UROK_HUMAN P141L Polymorphism UROK_HUMAN M214I Polymorphism GFRA1_HUMAN T366A Polymorphism GFRA1_HUMAN Y85N Polymorphism RP1_HUMAN C2033Y Polymorphism RP1_HUMAN R872H Polymorphism RP1_HUMAN N985Y Polymorphism RP1_HUMAN S1691P Polymorphism RP1_HUMAN A1670T Polymorphism EST1_HUMAN R199H Polymorphism EST1_HUMAN D203E Polymorphism EST1_HUMAN S75N Polymorphism OPSD_HUMAN P347A Disease OPSD_HUMAN D190N Disease OPSD_HUMAN V345M Disease OPSD_HUMAN P347L Disease OPSD_HUMAN P23L Disease OPSD_HUMAN D190G Disease OPSD_HUMAN P171L Disease OPSD_HUMAN G109R Disease OPSD_HUMAN P171S Disease OPSD_HUMAN D190Y Disease OPSD_HUMAN P171Q Disease OPSD_HUMAN P347Q Disease OPSD_HUMAN L40R Disease OPSD_HUMAN P347R Disease OPSD_HUMAN M207R Disease OPSD_HUMAN G188R Disease OPSD_HUMAN F45L Disease OPSD_HUMAN L125R Disease OPSD_HUMAN K296E Disease OPSD_HUMAN T342M Disease OPSD_HUMAN E150K Disease OPSD_HUMAN C222R Disease OPSD_HUMAN G51V Disease OPSD_HUMAN G114D Disease OPSD_HUMAN G90D Disease OPSD_HUMAN S297R Disease OPSD_HUMAN E181K Disease OPSD_HUMAN C110Y Disease OPSD_HUMAN T4K Disease OPSD_HUMAN A164V Disease OPSD_HUMAN G106R Disease OPSD_HUMAN P347S Disease OPSD_HUMAN G106W Disease OPSD_HUMAN V345L Disease OPSD_HUMAN G89D Disease OPSD_HUMAN G182S Disease OPSD_HUMAN H211P Disease OPSD_HUMAN H211R Disease OPSD_HUMAN L46R Disease OPSD_HUMAN R135W Disease OPSD_HUMAN G188E Disease OPSD_HUMAN V87D Disease OPSD_HUMAN P267R Disease OPSD_HUMAN C167R Disease OPSD_HUMAN Y178N Disease OPSD_HUMAN P23H Disease OPSD_HUMAN F220C Disease OPSD_HUMAN R135G Disease OPSD_HUMAN S127F Disease OPSD_HUMAN M216K Disease OPSD_HUMAN P267L Disease OPSD_HUMAN R135L Disease OPSD_HUMAN Y178C Disease OPSD_HUMAN V104I Polymorphism OPSD_HUMAN P53R Disease OPSD_HUMAN A292E Disease OPSD_HUMAN G51R Disease OPSD_HUMAN A164E Disease OPSD_HUMAN C110F Disease OPSD_HUMAN Q28H Disease OPSD_HUMAN T94I Disease OPSD_HUMAN S186P Disease OPSD_HUMAN M44T Disease OPSD_HUMAN T17M Disease OPSD_HUMAN C140S Disease OPSD_HUMAN N15S Disease OPSD_HUMAN L131P Disease OPSD_HUMAN T58R Disease PTC1_HUMAN S1132Y Disease PTC1_HUMAN E1438D Disease PTC1_HUMAN T230P Disease PTC1_HUMAN F376S Disease PTC1_HUMAN G1069R Disease PTC1_HUMAN D513Y Disease PTC1_HUMAN G509R Disease PTC1_HUMAN V829M Disease PTC1_HUMAN G509V Disease PTC1_HUMAN L175P Disease PTC1_HUMAN P1282L Polymorphism PTC1_HUMAN S1132P Disease PTC1_HUMAN R1114W Disease PTC1_HUMAN T1195S Polymorphism PTC1_HUMAN L1315P Polymorphism PTC1_HUMAN E1242K Disease PHEX_HUMAN L138P Disease PHEX_HUMAN C746W Disease PHEX_HUMAN S141P Disease PHEX_HUMAN R567P Disease PHEX_HUMAN W530C Disease PHEX_HUMAN G579R Disease PHEX_HUMAN A573D Disease PHEX_HUMAN G579V Disease PHEX_HUMAN C77S Disease PHEX_HUMAN Y317F Disease PHEX_HUMAN F252S Disease PHEX_HUMAN Q621R Disease PHEX_HUMAN D237G Disease PHEX_HUMAN P534L Disease PHEX_HUMAN W749R Disease PHEX_HUMAN M253I Disease PHEX_HUMAN N680K Disease PHEX_HUMAN L160R Disease PHEX_HUMAN R166C Disease PHEX_HUMAN R651P Disease PHEX_HUMAN L555P Disease PHEX_HUMAN C693Y Disease PHEX_HUMAN C85R Disease PHEX_HUMAN C733S Disease PHEX_HUMAN C85Y Disease PHEX_HUMAN C85F Disease PHEX_HUMAN C142F Disease PHEX_HUMAN F731Y Disease PHEX_HUMAN F80S Disease PHEX_HUMAN A720T Disease ALDOB_HUMAN A174D Disease ALDOB_HUMAN V221F Disease ALDOB_HUMAN A149P Disease ALDOB_HUMAN A337V Disease ALDOB_HUMAN L256P Disease ALDOB_HUMAN L228P Disease ALDOB_HUMAN R303W Disease ALDOB_HUMAN I73T Disease ALDOB_HUMAN P184R Disease ALDOB_HUMAN C134R Disease ALDOB_HUMAN N334K Disease ALDOB_HUMAN E206Q Polymorphism ALDOB_HUMAN R303Q Disease BIRC7_HUMAN E223Q Polymorphism CO3A1_HUMAN G666D Disease CO3A1_HUMAN G738S Disease CO3A1_HUMAN G738V Disease CO3A1_HUMAN G726R Disease CO3A1_HUMAN G903E Disease CO3A1_HUMAN G1101E Disease CO3A1_HUMAN G417R Disease CO3A1_HUMAN G1071V Disease CO3A1_HUMAN G444R Disease CO3A1_HUMAN G960V Disease CO3A1_HUMAN G345R Disease CO3A1_HUMAN G267V Disease CO3A1_HUMAN G882D Disease CO3A1_HUMAN G540R Disease CO3A1_HUMAN G192V Disease CO3A1_HUMAN G999R Disease CO3A1_HUMAN G1182E Disease CO3A1_HUMAN G1170V Disease CO3A1_HUMAN I1205V Polymorphism CO3A1_HUMAN G240R Disease CO3A1_HUMAN A698T Polymorphism CO3A1_HUMAN G984T Disease CO3A1_HUMAN G264R Disease CO3A1_HUMAN G1173R Disease CO3A1_HUMAN G327D Disease CO3A1_HUMAN G852C Disease CO3A1_HUMAN G204S Disease CO3A1_HUMAN G183D Disease CO3A1_HUMAN G1170D Disease CO3A1_HUMAN G582S Disease CO3A1_HUMAN G183S Disease CO3A1_HUMAN G183C Disease CO3A1_HUMAN G1032V Disease CO3A1_HUMAN G1164E Disease CO3A1_HUMAN G1164R Disease CO3A1_HUMAN G744V Disease CO3A1_HUMAN G219C Disease CO3A1_HUMAN G804S Disease CO3A1_HUMAN G756E Disease CO3A1_HUMAN G966V Disease CO3A1_HUMAN G918E Disease CO3A1_HUMAN G1173E Disease CO3A1_HUMAN G1044D Disease CO3A1_HUMAN G321V Disease CO3A1_HUMAN G972A Disease CO3A1_HUMAN G549E Disease CO3A1_HUMAN G1014E Disease CO3A1_HUMAN G501R Disease CO3A1_HUMAN G1179R Disease CO3A1_HUMAN G1185D Disease CO3A1_HUMAN P668T Polymorphism CO3A1_HUMAN G210D Disease CO3A1_HUMAN G1185V Disease CO3A1_HUMAN G1098D Disease CO3A1_HUMAN G762C Disease CO3A1_HUMAN G243V Disease CO3A1_HUMAN G924C Disease CO3A1_HUMAN G699R Disease CO3A1_HUMAN G1011E Disease CO3A1_HUMAN G567E Disease CO3A1_HUMAN G660D Disease CO3A1_HUMAN G1161V Disease CO3A1_HUMAN G552E Disease CO3A1_HUMAN G1050V Disease CO3A1_HUMAN G1089D Disease CO3A1_HUMAN G1050D Disease CO3A1_HUMAN G252R Disease CO3A1_HUMAN G996E Disease CO3A1_HUMAN G1035C Disease CO3A1_HUMAN G228E Disease CO3A1_HUMAN P635L Polymorphism CO3A1_HUMAN G252D Disease CO3A1_HUMAN G828R Disease CO3A1_HUMAN G828W Disease CO3A1_HUMAN P602T Polymorphism CO3A1_HUMAN G936R Disease CO3A1_HUMAN G936S Disease CO3A1_HUMAN G204D Disease CO3A1_HUMAN G957S Disease CO3A1_HUMAN G1077V Disease CO3A1_HUMAN G1188R Disease CO3A1_HUMAN G255V Disease CO3A1_HUMAN G1098V Disease CO3A1_HUMAN G1176V Disease CO3A1_HUMAN G1188E Disease CO3A1_HUMAN G252V Disease CO3A1_HUMAN G942E Disease CO3A1_HUMAN G879V Disease CO3A1_HUMAN G657E Disease CO3A1_HUMAN G1167V Disease CO3A1_HUMAN G201R Disease CO3A1_HUMAN G249D Disease CO3A1_HUMAN G489E Disease CO3A1_HUMAN G249V Disease CO3A1_HUMAN G636R Disease CO3A1_HUMAN G1104A Disease CO3A1_HUMAN G900D Disease CO3A1_HUMAN G519V Disease CO3A1_HUMAN G588D Disease CO3A1_HUMAN G939D Disease CO3A1_HUMAN G909D Disease CO3A1_HUMAN G225V Disease CO3A1_HUMAN G909V Disease RRMJ3_HUMAN E91Q Polymorphism RRMJ3_HUMAN C424S Polymorphism PLCB_HUMAN A239V Disease PLCB_HUMAN L228P Disease PLCB_HUMAN G136R Disease COLI_HUMAN D106N Polymorphism COLI_HUMAN R236G Polymorphism COLI_HUMAN S9L Polymorphism COLI_HUMAN E214G Polymorphism COLI_HUMAN R236Q Polymorphism COLI_HUMAN S7T Polymorphism BTG1_HUMAN N139S Polymorphism BTG1_HUMAN Q141E Polymorphism GPC5D_HUMAN A18D Polymorphism ZBTB3_HUMAN I574M Polymorphism IDLC_HUMAN A65V Polymorphism CXCR2_HUMAN R80C Polymorphism PSB6_HUMAN P107A Polymorphism MMP2_HUMAN V621L Polymorphism MMP2_HUMAN A447V Polymorphism INVS_HUMAN P482R Disease INVS_HUMAN L493S Disease CP4F2_HUMAN A269D Polymorphism CP4F2_HUMAN G185V Polymorphism CP4F2_HUMAN W12G Polymorphism CP4F2_HUMAN S7Y Polymorphism CP4F2_HUMAN V433M Polymorphism CP4F2_HUMAN L519M Polymorphism CP4F3_HUMAN V270I Polymorphism CP4F3_HUMAN I271T Polymorphism CP4F3_HUMAN A269D Polymorphism MMAB_HUMAN E193K Disease MMAB_HUMAN I96T Disease MMAB_HUMAN R186W Polymorphism MMAB_HUMAN R191W Disease MMAB_HUMAN R19Q Polymorphism MMAB_HUMAN M239K Polymorphism MMAB_HUMAN A135T Disease CHDH_HUMAN E40A Polymorphism GANC_HUMAN Q848R Polymorphism GANC_HUMAN R44Q Polymorphism GANC_HUMAN V11L Polymorphism GANC_HUMAN D443E Polymorphism GANC_HUMAN F845S Polymorphism GANC_HUMAN I153M Polymorphism UPK1A_HUMAN M257T Polymorphism LEG9_HUMAN G5S Polymorphism WASP_HUMAN W96C Disease WASP_HUMAN S81P Disease WASP_HUMAN A133T Disease WASP_HUMAN Y82C Disease WASP_HUMAN T44M Disease WASP_HUMAN R85H Disease WASP_HUMAN R85L Disease WASP_HUMAN G186C Disease WASP_HUMAN R85C Disease WASP_HUMAN F83L Disease WASP_HUMAN E132K Disease WASP_HUMAN A235E Disease WASP_HUMAN T47I Disease WASP_HUMAN E30K Disease WASP_HUMAN K475E Disease WASP_HUMAN V74M Disease WASP_HUMAN C72R Disease WASP_HUMAN E130K Disease WASP_HUMAN A55V Disease WASP_HUMAN C42W Disease WASP_HUMAN L26F Disease WASP_HUMAN P57L Disease WASP_HUMAN R476K Disease WASP_HUMAN G69W Disease WASP_HUMAN Q51H Disease WASP_HUMAN G88D Disease BARD1_HUMAN P24S Polymorphism BARD1_HUMAN S761N Disease BARD1_HUMAN Q564H Disease BARD1_HUMAN V695L Disease BARD1_HUMAN C557S Polymorphism BARD1_HUMAN S241C Polymorphism BARD1_HUMAN V507M Polymorphism BARD1_HUMAN R658C Polymorphism CLIC6_HUMAN D632G Polymorphism NCTR1_HUMAN K82Q Polymorphism PGS2_HUMAN T268M Polymorphism PGS2_HUMAN E273Q Polymorphism IPSP_HUMAN G94V Polymorphism IPSP_HUMAN G217R Polymorphism IPSP_HUMAN L115P Polymorphism IPSP_HUMAN A55V Polymorphism IPSP_HUMAN P121A Polymorphism IPSP_HUMAN N64S Polymorphism IPSP_HUMAN S44G Polymorphism IPSP_HUMAN K105E Polymorphism UBIM_HUMAN T53I Polymorphism BGLR_HUMAN A354V Disease BGLR_HUMAN R382C Disease BGLR_HUMAN W627C Disease BGLR_HUMAN P649L Polymorphism BGLR_HUMAN A619V Disease BGLR_HUMAN R216W Disease BGLR_HUMAN R611W Disease VNN1_HUMAN T336A Polymorphism VNN1_HUMAN I373T Polymorphism VNN1_HUMAN V136L Polymorphism VNN1_HUMAN N131S Polymorphism VNN1_HUMAN A63T Polymorphism VNN1_HUMAN E296D Polymorphism VNN1_HUMAN D146N Polymorphism VNN1_HUMAN A325E Polymorphism VNN1_HUMAN T26I Polymorphism POLH_HUMAN K535E Disease POLH_HUMAN L584P Polymorphism POLH_HUMAN T122P Disease POLH_HUMAN K589T Disease POLH_HUMAN M647L Polymorphism POLH_HUMAN G209V Polymorphism POLH_HUMAN R334W Polymorphism POLH_HUMAN T478M Polymorphism POLH_HUMAN R361S Disease POLH_HUMAN R111H Disease POLH_HUMAN M595V Polymorphism POLH_HUMAN G263V Disease CASP3_HUMAN E190D Polymorphism ITPA_HUMAN P32T Disease NCLN_HUMAN K551R Polymorphism PIGC_HUMAN P266S Polymorphism FBXW7_HUMAN R133G Polymorphism FBXW7_HUMAN R465C Disease FBXW7_HUMAN T144R Polymorphism FBXW7_HUMAN E115K Polymorphism FBXW7_HUMAN R505L Disease FBXW7_HUMAN S668G Polymorphism APOC4_HUMAN L96R Polymorphism APOC4_HUMAN L36P Polymorphism APOC4_HUMAN G52D Polymorphism APOC4_HUMAN Q126L Polymorphism NB4M_HUMAN A8V Polymorphism TGFB2_HUMAN R91H Polymorphism TGFB2_HUMAN V207L Polymorphism DCDC2_HUMAN G221S Polymorphism EPM2A_HUMAN R91P Disease EPM2A_HUMAN E28K Disease EPM2A_HUMAN R108C Disease EPM2A_HUMAN T194I Disease EPM2A_HUMAN P301L Disease EPM2A_HUMAN R171H Disease EPM2A_HUMAN G279S Disease EPM2A_HUMAN Y294N Disease EPM2A_HUMAN G240S Disease EPM2A_HUMAN S25P Disease EPM2A_HUMAN W32G Disease EPM2A_HUMAN Q293L Disease EPM2A_HUMAN F84L Disease EPM2A_HUMAN F88L Disease EPM2A_HUMAN T187A Disease EPM2A_HUMAN E114D Polymorphism ZN137_HUMAN Q181H Polymorphism DPOLL_HUMAN T221P Polymorphism DPOLL_HUMAN R438W Polymorphism OBF1_HUMAN Q194R Polymorphism OBF1_HUMAN T141A Polymorphism GTR9_HUMAN R25G Polymorphism GTR9_HUMAN V282I Polymorphism GTR9_HUMAN R294H Polymorphism GTR9_HUMAN L350P Polymorphism AGTR2_HUMAN C268W Polymorphism AGTR2_HUMAN R248K Polymorphism TBX5_HUMAN I54T Disease TBX5_HUMAN Q49K Disease TBX5_HUMAN R237W Disease TBX5_HUMAN R237Q Disease TBX5_HUMAN G80R Disease GPR43_HUMAN L211H Polymorphism TGFB1_HUMAN R218H Disease TGFB1_HUMAN C225R Disease TGFB1_HUMAN R218C Disease TGFB1_HUMAN H222D Disease TGFB1_HUMAN Y81H Disease TGFB1_HUMAN L10P Polymorphism TGFB1_HUMAN T263I Polymorphism TGFB1_HUMAN R25P Polymorphism TCF19_HUMAN P241L Polymorphism TCF19_HUMAN V211M Polymorphism WRN_HUMAN S1133A Polymorphism WRN_HUMAN F1074L Polymorphism WRN_HUMAN E343K Polymorphism WRN_HUMAN Q329R Polymorphism WRN_HUMAN S708F Polymorphism WRN_HUMAN S612C Polymorphism WRN_HUMAN M387I Polymorphism WRN_HUMAN N240K Polymorphism WRN_HUMAN L383F Polymorphism WRN_HUMAN C1367R Polymorphism WRN_HUMAN T172P Polymorphism WRN_HUMAN V1339I Polymorphism WRN_HUMAN K32R Polymorphism WRN_HUMAN L383W Polymorphism WRN_HUMAN Q724L Polymorphism WRN_HUMAN V114I Polymorphism WRN_HUMAN I912S Polymorphism WRN_HUMAN S1079L Polymorphism WRN_HUMAN K1269E Polymorphism WRN_HUMAN R834C Polymorphism WRN_HUMAN N533S Polymorphism WRN_HUMAN T324A Polymorphism FETUA_HUMAN D276N Polymorphism FETUA_HUMAN R317C Polymorphism FETUA_HUMAN T248M Polymorphism FETUA_HUMAN T256S Polymorphism GNEFR_HUMAN K429E Polymorphism GNEFR_HUMAN G457E Polymorphism SODE_HUMAN T58A Polymorphism SODE_HUMAN A91T Polymorphism SODE_HUMAN R231G Polymorphism CST8_HUMAN A142P Polymorphism MRS2L_HUMAN P35S Polymorphism GUC2D_HUMAN F565S Disease GUC2D_HUMAN L954P Disease GUC2D_HUMAN L325P Disease GUC2D_HUMAN A52S Disease GUC2D_HUMAN C105Y Disease GUC2D_HUMAN P701S Disease GUC2D_HUMAN R838H Disease GUC2D_HUMAN E837D Disease GUC2D_HUMAN A362S Disease GUC2D_HUMAN I573V Disease GUC2D_HUMAN P858S Disease GUC2D_HUMAN L782H Polymorphism GUC2D_HUMAN R838C Disease PRB4M_HUMAN P200A Polymorphism CO6A1_HUMAN G341D Disease CO6A1_HUMAN G305V Disease CO6A1_HUMAN K121R Disease LIRB3_HUMAN H539Q Polymorphism LIRB3_HUMAN Y400F Polymorphism LIRB3_HUMAN Y400H Polymorphism LIRB3_HUMAN V21M Polymorphism LIRB3_HUMAN Q90E Polymorphism LIRB3_HUMAN R205Q Polymorphism LIRB3_HUMAN S122N Polymorphism LIRB3_HUMAN A574V Polymorphism LIRB3_HUMAN Q59R Polymorphism LIRB3_HUMAN Y405H Polymorphism LIRB3_HUMAN L69W Polymorphism ZN215_HUMAN M376V Polymorphism RRP44_HUMAN T326R Polymorphism RRP44_HUMAN N269S Polymorphism CY24A_HUMAN G23R Disease CY24A_HUMAN H93R Disease CY24A_HUMAN H71Y Polymorphism CY24A_HUMAN R89Q Disease CY24A_HUMAN P155Q Disease CY24A_HUMAN S117R Disease ATX7_HUMAN P663S Polymorphism ATX7_HUMAN K264R Polymorphism ATX7_HUMAN V862M Polymorphism CSF2_HUMAN T115I Polymorphism CSF2_HUMAN I117T Polymorphism CJ006_HUMAN S541Y Polymorphism LMBL3_HUMAN T183N Polymorphism AMPO_HUMAN V179A Polymorphism CLN3_HUMAN L101P Disease CLN3_HUMAN R334C Disease CLN3_HUMAN L170P Disease CLN3_HUMAN R334H Disease CLN3_HUMAN V330F Disease CLN3_HUMAN E295K Disease MTR1A_HUMAN A157V Polymorphism MTR1A_HUMAN R54W Polymorphism TRI63_HUMAN K237E Polymorphism ABCD3_HUMAN G17D Disease EXOS7_HUMAN L274V Polymorphism OXER1_HUMAN L407V Polymorphism SYR_HUMAN V3I Polymorphism SYR_HUMAN F397Y Polymorphism PIGR_HUMAN A580V Polymorphism SESN1_HUMAN L44I Polymorphism IL16_HUMAN R188Q Polymorphism IL16_HUMAN N446K Polymorphism IL16_HUMAN S205L Polymorphism ELNE_HUMAN V219I Polymorphism ELNE_HUMAN P257L Polymorphism ELNE_HUMAN R191Q Disease ELNE_HUMAN P262L Polymorphism ELNE_HUMAN G32V Disease ELNE_HUMAN V177F Disease DLL3_HUMAN G385D Disease DLL3_HUMAN L218P Polymorphism DHB4_HUMAN W511R Polymorphism DHB4_HUMAN R106H Polymorphism DHB4_HUMAN I559V Polymorphism OTOSP_HUMAN P7L Polymorphism S10A5_HUMAN D54G Polymorphism INGR2_HUMAN R64Q Polymorphism INGR2_HUMAN E147K Polymorphism INGR2_HUMAN T168N Disease INGR2_HUMAN K182E Polymorphism INGR2_HUMAN T58R Polymorphism NRAM1_HUMAN D543N Polymorphism NRAM1_HUMAN A318V Polymorphism NRAM1_HUMAN Q30R Polymorphism CATD_HUMAN A58V Polymorphism STAT6_HUMAN M181R Polymorphism BAT1_HUMAN W230R Disease BAT1_HUMAN R333W Disease BAT1_HUMAN T123M Disease BAT1_HUMAN A382T Disease BAT1_HUMAN A224V Disease BAT1_HUMAN G63R Disease BAT1_HUMAN A331V Disease BAT1_HUMAN V170M Disease BAT1_HUMAN W69L Disease BAT1_HUMAN P261L Disease BAT1_HUMAN I187F Disease BAT1_HUMAN G259R Disease BAT1_HUMAN P52L Disease BAT1_HUMAN A354T Disease BAT1_HUMAN I241T Disease BAT1_HUMAN G195R Disease BAT1_HUMAN S379R Disease BAT1_HUMAN A70V Disease BAT1_HUMAN A126T Disease BAT1_HUMAN L223M Polymorphism BAT1_HUMAN G105R Disease BAT1_HUMAN V330M Disease BAT1_HUMAN A182T Disease BAT1_HUMAN I44T Disease RASK_HUMAN A59T Disease RASK_HUMAN G12V Disease RASK_HUMAN G12R Disease RASK_HUMAN G12S Disease RASK_HUMAN G12C Disease RASK_HUMAN Q61H Disease RASK_HUMAN G12D Disease RASK_HUMAN G13D Disease RASH_HUMAN G12V Disease RASH_HUMAN Q61L Disease RASH_HUMAN G12S Disease RASN_HUMAN G13R Disease RASN_HUMAN Q61R Disease RASN_HUMAN G12C Disease SHPS1_HUMAN A388E Polymorphism SHPS1_HUMAN V270I Polymorphism SHPS1_HUMAN P490L Polymorphism SHPS1_HUMAN V301L Polymorphism SHPS1_HUMAN V262M Polymorphism SHPS1_HUMAN V221I Polymorphism SHPS1_HUMAN L78K Polymorphism SHPS1_HUMAN H54R Polymorphism SHPS1_HUMAN T180S Polymorphism SHPS1_HUMAN P338S Polymorphism SHPS1_HUMAN H54E Polymorphism SHPS1_HUMAN Q260L Polymorphism SHPS1_HUMAN E95D Polymorphism SHPS1_HUMAN R369Q Polymorphism SHPS1_HUMAN E100T Polymorphism SHPS1_HUMAN Q162D Polymorphism SHPS1_HUMAN I61N Polymorphism SHPS1_HUMAN E189Q Polymorphism SHPS1_HUMAN V57A Polymorphism SHPS1_HUMAN T131V Polymorphism SHPS1_HUMAN Q235R Polymorphism SHPS1_HUMAN A20P Polymorphism SHPS1_HUMAN F133L Polymorphism SHPS1_HUMAN S366P Polymorphism SHPS1_HUMAN S109G Polymorphism SHPS1_HUMAN E219G Polymorphism SHPS1_HUMAN R250Q Polymorphism SHPS1_HUMAN D40E Polymorphism SHPS1_HUMAN K213N Polymorphism SHPS1_HUMAN A75G Polymorphism SHPS1_HUMAN E77K Polymorphism SHPS1_HUMAN R125Q Polymorphism SHPS1_HUMAN N81H Polymorphism SHPS1_HUMAN P352L Polymorphism SHPS1_HUMAN R275T Polymorphism SHPS1_HUMAN Q442R Polymorphism SHPS1_HUMAN S96L Polymorphism SHPS1_HUMAN S107C Polymorphism SHPS1_HUMAN S50T Polymorphism SHPS1_HUMAN I52A Polymorphism SHPS1_HUMAN A485L Polymorphism SHPS1_HUMAN S44L Polymorphism SHPS1_HUMAN W68R Polymorphism SHPS1_HUMAN I52T Polymorphism SHPS1_HUMAN S107R Polymorphism SHPS1_HUMAN G356S Polymorphism SHPS1_HUMAN E100N Polymorphism SHPS1_HUMAN P459L Polymorphism BAT3_HUMAN S625P Polymorphism PK1L1_HUMAN E2410K Polymorphism PGCB_HUMAN E504K Polymorphism EGFL7_HUMAN I153V Polymorphism RDS_HUMAN P219R Disease RDS_HUMAN S212G Disease RDS_HUMAN R220Q Disease RDS_HUMAN I32V Disease RDS_HUMAN F211L Disease RDS_HUMAN G305D Disease RDS_HUMAN V268I Disease RDS_HUMAN S212T Disease RDS_HUMAN D157N Disease RDS_HUMAN R13W Disease RDS_HUMAN K153R Disease RDS_HUMAN G68R Disease RDS_HUMAN P210R Disease RDS_HUMAN P210S Disease RDS_HUMAN G167D Disease RDS_HUMAN R172W Disease RDS_HUMAN P216S Disease RDS_HUMAN P216L Disease RDS_HUMAN K310R Polymorphism RDS_HUMAN C214S Disease RDS_HUMAN R172G Disease RDS_HUMAN R142W Disease RDS_HUMAN R220W Disease RDS_HUMAN N244H Disease RDS_HUMAN N244K Disease RDS_HUMAN L45F Disease RDS_HUMAN C165Y Disease RDS_HUMAN C213R Disease RDS_HUMAN P313L Polymorphism RDS_HUMAN G208D Disease RDS_HUMAN L126R Disease RDS_HUMAN R172Q Disease RDS_HUMAN D173V Disease RDS_HUMAN Y184S Disease RDS_HUMAN L185P Disease RDS_HUMAN G266D Disease PREX1_HUMAN E1340K Polymorphism PREX1_HUMAN V1240I Polymorphism PREX1_HUMAN S1559T Polymorphism EBP_HUMAN R146H Disease EBP_HUMAN E79K Disease EBP_HUMAN R146G Disease EBP_HUMAN R109Q Disease HSPB8_HUMAN K141N Disease HSPB8_HUMAN K141E Disease LASS3_HUMAN G370R Polymorphism DCR1C_HUMAN G135E Disease DCR1C_HUMAN H35D Disease DCR1C_HUMAN G118V Disease BCL6_HUMAN A493T Polymorphism BCL6_HUMAN H676Y Polymorphism DYXC1_HUMAN G191E Polymorphism DYXC1_HUMAN S420C Polymorphism DYXC1_HUMAN V91I Polymorphism DYXC1_HUMAN P2S Polymorphism HOME3_HUMAN S342R Polymorphism CHRD_HUMAN L630M Polymorphism RL7A_HUMAN A23V Polymorphism AA2AR_HUMAN R300H Polymorphism AA2AR_HUMAN A50V Polymorphism AA2AR_HUMAN G392R Polymorphism ELN_HUMAN S422G Polymorphism NCB5R_HUMAN V105M Disease NCB5R_HUMAN C203R Disease NCB5R_HUMAN T116S Polymorphism NCB5R_HUMAN C203Y Disease NCB5R_HUMAN A178V Disease NCB5R_HUMAN S127P Disease NCB5R_HUMAN R57Q Disease NCB5R_HUMAN L72P Disease NCB5R_HUMAN S65P Polymorphism NCB5R_HUMAN L148P Disease G6PT_HUMAN R83I Disease G6PT_HUMAN R83H Disease G6PT_HUMAN V338F Disease G6PT_HUMAN R83C Disease G6PT_HUMAN G188D Disease G6PT_HUMAN W156L Disease G6PT_HUMAN G184E Disease G6PT_HUMAN G188R Disease G6PT_HUMAN D38V Disease G6PT_HUMAN G222R Disease G6PT_HUMAN Q54P Disease G6PT_HUMAN V166G Disease G6PT_HUMAN G81R Disease G6PT_HUMAN W77R Disease G6PT_HUMAN R295C Disease G6PT_HUMAN T108I Disease G6PT_HUMAN Q20R Disease G6PT_HUMAN A124T Disease G6PT_HUMAN L211P Disease G6PT_HUMAN G266V Disease G6PT_HUMAN G270V Disease G6PT_HUMAN I341N Disease G6PT_HUMAN E110K Disease DPOD2_HUMAN N303S Polymorphism CU099_HUMAN T42M Polymorphism ARHGC_HUMAN Y973F Polymorphism TPM1_HUMAN E180G Disease TPM1_HUMAN D175N Disease TPM1_HUMAN A63V Disease DHB2_HUMAN A121T Polymorphism CAH3_HUMAN I30V Polymorphism TTC3_HUMAN M840T Polymorphism TTC3_HUMAN F1117L Polymorphism MYLK_HUMAN L861P Polymorphism MYLK_HUMAN D914E Polymorphism TFPI1_HUMAN V292M Polymorphism TAZ_HUMAN R94S Disease TAZ_HUMAN C118R Disease TAZ_HUMAN G197R Disease CJ092_HUMAN A492T Polymorphism CJ092_HUMAN S701G Polymorphism KCNA1_HUMAN F249I Disease KCNA1_HUMAN S342I Disease KCNA1_HUMAN V404I Disease KCNA1_HUMAN R204H Polymorphism KCNA1_HUMAN V408A Disease KCNA1_HUMAN L329I Disease KCNA1_HUMAN T226M Disease KCNA1_HUMAN I177R Disease KCNA1_HUMAN E325D Disease KCNA1_HUMAN F184C Disease KCNA1_HUMAN V174F Disease KCNA1_HUMAN R239S Disease KCNA1_HUMAN T226A Disease ULAH_HUMAN A3L Polymorphism EYA4_HUMAN G277S Polymorphism NOS1_HUMAN G864D Polymorphism NOS1_HUMAN P228S Polymorphism NOS1_HUMAN N725D Polymorphism NOS1_HUMAN Q1064R Polymorphism NOS1_HUMAN D394A Polymorphism VIPR1_HUMAN R445L Polymorphism AOC3_HUMAN Y317H Polymorphism 2ACA_HUMAN D745N Polymorphism CP2B6_HUMAN R487C Polymorphism CP2B6_HUMAN K262R Polymorphism CP2B6_HUMAN R140Q Polymorphism CP2B6_HUMAN Q172H Polymorphism CP2B6_HUMAN I391N Polymorphism CP2B6_HUMAN K139E Polymorphism CP2B6_HUMAN G99E Polymorphism CP2B6_HUMAN S259R Polymorphism CP2B6_HUMAN P167A Polymorphism CP2B6_HUMAN R22C Polymorphism CP2B6_HUMAN Q21L Polymorphism CP2B6_HUMAN M46V Polymorphism TDG_HUMAN V367M Polymorphism TDG_HUMAN G199S Polymorphism GLP1R_HUMAN A316T Polymorphism GLP1R_HUMAN R131Q Polymorphism GLP1R_HUMAN S333C Polymorphism GLP1R_HUMAN R421Q Polymorphism GLP1R_HUMAN G168S Polymorphism GLP1R_HUMAN P7L Polymorphism GLP1R_HUMAN R20K Polymorphism GLP1R_HUMAN R44H Polymorphism GLP1R_HUMAN F260L Polymorphism LRRN5_HUMAN L518V Polymorphism LRRN5_HUMAN P7L Polymorphism E41L2_HUMAN Q17H Polymorphism APBB1_HUMAN M327V Polymorphism APBB1_HUMAN N396S Polymorphism ITA11_HUMAN L972P Polymorphism ITA11_HUMAN Q891K Polymorphism ITA11_HUMAN R524L Polymorphism ITA11_HUMAN L1094V Polymorphism ITA11_HUMAN V433M Polymorphism ITA11_HUMAN M471L Polymorphism ITA11_HUMAN I1003M Polymorphism ZN238_HUMAN E132G Polymorphism SO5A1_HUMAN L33F Polymorphism RAB17_HUMAN L191P Polymorphism B4GT7_HUMAN A186D Disease B4GT7_HUMAN L206P Disease ATF5_HUMAN L121P Polymorphism MRGX2_HUMAN N62S Polymorphism HAIR_HUMAN D1012N Disease HAIR_HUMAN T1022A Disease HAIR_HUMAN R620Q Polymorphism HAIR_HUMAN V1136D Disease SP1_HUMAN T737A Polymorphism TMPS9_HUMAN S30T Polymorphism TMPS9_HUMAN S793N Polymorphism TMPS9_HUMAN E938K Polymorphism TAF11_HUMAN T68R Polymorphism TGFB4_HUMAN P286L Polymorphism TGFB4_HUMAN S92L Polymorphism CAH2_HUMAN H106Y Disease CAH2_HUMAN N251D Polymorphism CAH2_HUMAN H93Y Disease CAH2_HUMAN G143R Disease CAH2_HUMAN Q91P Disease RFC2_HUMAN A232V Polymorphism SUIS_HUMAN Q1097P Disease IF35_HUMAN W172L Polymorphism AL3B2_HUMAN A50T Polymorphism TGM1_HUMAN S42Y Disease TGM1_HUMAN V379L Disease TGM1_HUMAN D102V Disease TGM1_HUMAN G218S Disease TGM1_HUMAN R307W Disease TGM1_HUMAN R143H Disease TGM1_HUMAN R396L Disease TGM1_HUMAN R143C Disease TGM1_HUMAN R323Q Disease TGM1_HUMAN R389H Disease TGM1_HUMAN N289T Disease TGM1_HUMAN R142H Disease HIF1A_HUMAN T796A Polymorphism MMP8_HUMAN K87E Polymorphism TIM16_HUMAN Q114K Polymorphism HCDH_HUMAN P258L Disease HCDH_HUMAN D57E Disease HCDH_HUMAN A40T Disease CBX8_HUMAN G317V Polymorphism MYO5C_HUMAN P522L Polymorphism MYO5C_HUMAN L634S Polymorphism SFR14_HUMAN S206G Polymorphism ICT1_HUMAN R8P Polymorphism UBQL3_HUMAN R624Q Polymorphism SGCG_HUMAN G68D Disease SGCG_HUMAN S286N Polymorphism SGCG_HUMAN G68R Disease SGCG_HUMAN R115H Polymorphism SGCG_HUMAN C282Y Disease UTX_HUMAN A30T Polymorphism UTX_HUMAN T726K Polymorphism UTX_HUMAN Q497H Polymorphism ACOX1_HUMAN M312I Polymorphism HXK1_HUMAN L529S Disease HXK1_HUMAN T680S Disease HXK1_HUMAN L776M Polymorphism ICAM1_HUMAN G241R Polymorphism ICAM1_HUMAN K155N Polymorphism ICAM1_HUMAN K469E Polymorphism ICAM1_HUMAN R397Q Polymorphism ICAM1_HUMAN V315M Polymorphism ICAM1_HUMAN R478W Polymorphism ICAM1_HUMAN K56M Polymorphism ICAM1_HUMAN P352L Polymorphism EST2_HUMAN R34W Polymorphism EST2_HUMAN R206H Polymorphism STAR7_HUMAN R65P Polymorphism PCD15_HUMAN G262D Disease PCD15_HUMAN R134G Disease PCD15_HUMAN Q1342K Disease S35B1_HUMAN R81H Polymorphism ZMY10_HUMAN R407Q Disease AAAD_HUMAN I280V Polymorphism CP2C8_HUMAN K399R Polymorphism CP2C8_HUMAN R139K Polymorphism CP2C8_HUMAN I264M Polymorphism CP2C8_HUMAN I244V Polymorphism CP2C8_HUMAN I269F Polymorphism CP2C8_HUMAN L390S Polymorphism TCP1L_HUMAN H145R Polymorphism TNR17_HUMAN I65V Polymorphism TNR17_HUMAN S81N Polymorphism TNR17_HUMAN A54V Polymorphism TNR17_HUMAN C165S Polymorphism TNR17_HUMAN F75V Polymorphism TNR17_HUMAN A153T Polymorphism SALL2_HUMAN S122P Polymorphism SALL2_HUMAN S75C Polymorphism SALL2_HUMAN R746G Polymorphism CXCR1_HUMAN R335C Polymorphism CXCR1_HUMAN M31R Polymorphism CXCR1_HUMAN S342L Polymorphism CXCR1_HUMAN R71C Polymorphism CXCR1_HUMAN A306T Polymorphism CXCR1_HUMAN T276S Polymorphism FA49B_HUMAN N169K Polymorphism K2C7_HUMAN A363G Polymorphism HBA_HUMAN V10F Polymorphism HBA_HUMAN N68K Polymorphism APG9L_HUMAN S592G Polymorphism E2AK3_HUMAN R587Q Disease E2AK3_HUMAN R165Q Polymorphism E2AK3_HUMAN S135C Polymorphism E2AK3_HUMAN S703A Polymorphism JAG1_HUMAN A127T Disease JAG1_HUMAN L37S Disease JAG1_HUMAN C187S Disease JAG1_HUMAN W288C Disease JAG1_HUMAN P163L Disease JAG1_HUMAN C284F Disease JAG1_HUMAN C740R Disease JAG1_HUMAN C438F Disease JAG1_HUMAN I152T Disease JAG1_HUMAN C229Y Disease JAG1_HUMAN L79H Disease JAG1_HUMAN C753R Disease JAG1_HUMAN R184L Disease JAG1_HUMAN C229G Disease JAG1_HUMAN R184H Disease JAG1_HUMAN G274D Disease JAG1_HUMAN R184G Disease JAG1_HUMAN R184C Disease JAG1_HUMAN C731S Disease JAG1_HUMAN P129R Disease JAG1_HUMAN G386R Disease JAG1_HUMAN C220F Disease TTPA_HUMAN R59W Disease TTPA_HUMAN H101Q Disease TTPA_HUMAN A120T Disease TTPA_HUMAN G246R Disease TTPA_HUMAN R192H Disease TTPA_HUMAN R221W Disease TTPA_HUMAN E141K Disease OAZ1_HUMAN G43D Polymorphism OAZ1_HUMAN S49F Polymorphism OAZ1_HUMAN R31L Polymorphism OAZ1_HUMAN A146V Polymorphism OAZ1_HUMAN S52F Polymorphism BNIP1_HUMAN Q14H Polymorphism CLN8_HUMAN R24G Disease CLN8_HUMAN V155A Polymorphism NPY1R_HUMAN K374T Polymorphism NPC2_HUMAN S67P Disease NPC2_HUMAN P86L Polymorphism NPC2_HUMAN V39M Disease NEC1_HUMAN G483R Disease NEC1_HUMAN Q665E Polymorphism NEC1_HUMAN R80Q Polymorphism NEC1_HUMAN N221D Polymorphism NEC1_HUMAN S690T Polymorphism SC6A5_HUMAN D463N Polymorphism SC6A5_HUMAN V751A Polymorphism SC6A5_HUMAN Q184R Polymorphism CCKN_HUMAN G32E Polymorphism MPP4_HUMAN S44G Polymorphism CP2E1_HUMAN R76H Polymorphism CP2E1_HUMAN V389I Polymorphism CP2E1_HUMAN V179I Polymorphism ORC1_HUMAN A372V Polymorphism ORC1_HUMAN K456E Polymorphism ORC1_HUMAN C469Y Polymorphism ORC1_HUMAN Q180H Polymorphism ORC1_HUMAN V190M Polymorphism ORC1_HUMAN R19S Polymorphism ORC1_HUMAN T466M Polymorphism ORC1_HUMAN R441M Polymorphism RED2_HUMAN A44T Polymorphism CA048_HUMAN V254M Polymorphism PPT1_HUMAN G250V Disease PPT1_HUMAN R122W Disease PPT1_HUMAN T75P Disease PPT1_HUMAN Q177E Disease PPT1_HUMAN Y109D Disease PPT1_HUMAN G42E Disease PPT1_HUMAN G108R Disease PPT1_HUMAN L219Q Disease PPT1_HUMAN Y247H Disease PPT1_HUMAN D79G Disease PPT1_HUMAN I134T Polymorphism PPT1_HUMAN H39Q Disease PPT1_HUMAN V181M Disease PPT1_HUMAN V181L Disease CI079_HUMAN D682E Polymorphism CI079_HUMAN R1350H Polymorphism CI079_HUMAN D1202G Polymorphism CI079_HUMAN D704E Polymorphism CI079_HUMAN T335P Polymorphism MLH1_HUMAN I107R Disease MLH1_HUMAN I565F Disease MLH1_HUMAN Q689R Polymorphism MLH1_HUMAN P603R Disease MLH1_HUMAN G67W Disease MLH1_HUMAN N551T Disease MLH1_HUMAN A441T Disease MLH1_HUMAN G67R Disease MLH1_HUMAN M35R Disease MLH1_HUMAN R18C Disease MLH1_HUMAN R687W Disease MLH1_HUMAN L549P Disease MLH1_HUMAN R325Q Polymorphism MLH1_HUMAN F80V Disease MLH1_HUMAN L559R Disease MLH1_HUMAN S93G Disease MLH1_HUMAN E578G Disease MLH1_HUMAN R265H Polymorphism MLH1_HUMAN A681T Disease MLH1_HUMAN L588P Disease MLH1_HUMAN V506A Disease MLH1_HUMAN L607H Disease MLH1_HUMAN A492T Disease MLH1_HUMAN S295T Disease MLH1_HUMAN R659P Disease MLH1_HUMAN K618A Disease MLH1_HUMAN A128P Disease MLH1_HUMAN R226L Disease MLH1_HUMAN C77R Disease MLH1_HUMAN P28L Disease MLH1_HUMAN V384D Polymorphism MLH1_HUMAN L622H Disease MLH1_HUMAN R659L Disease MLH1_HUMAN K84E Disease MLH1_HUMAN K618T Disease MLH1_HUMAN V185G Disease MLH1_HUMAN R217G Polymorphism MLH1_HUMAN P648S Disease MLH1_HUMAN R217C Disease MLH1_HUMAN T117R Disease MLH1_HUMAN I32V Polymorphism MLH1_HUMAN T662P Disease MLH1_HUMAN Q62K Disease MLH1_HUMAN S406N Polymorphism MLH1_HUMAN T117M Disease MLH1_HUMAN G244D Disease MLH1_HUMAN L729V Polymorphism MLH1_HUMAN Q542L Disease MLH1_HUMAN R182G Disease MLH1_HUMAN A111V Disease MLH1_HUMAN S44F Disease MLH1_HUMAN R69K Disease MLH1_HUMAN S193P Disease MLH1_HUMAN I219V Polymorphism MLH1_HUMAN R182K Disease MLH1_HUMAN L574P Disease MLH1_HUMAN V716M Disease MLH1_HUMAN Y379C Disease MLH1_HUMAN K751R Disease MLH1_HUMAN V213M Disease MLH1_HUMAN G101D Disease MLH1_HUMAN A586P Disease MLH1_HUMAN N64S Disease MLH1_HUMAN H329P Disease MLH1_HUMAN G244V Polymorphism MLH1_HUMAN I68N Disease MLH1_HUMAN H718Y Polymorphism MLH1_HUMAN V326A Disease MLH1_HUMAN L582V Disease H12_HUMAN A17V Polymorphism WT1_HUMAN R394Q Disease WT1_HUMAN R394W Disease WT1_HUMAN R366C Disease WT1_HUMAN P181S Disease WT1_HUMAN R366H Disease WT1_HUMAN G253A Disease WT1_HUMAN H377Y Disease WT1_HUMAN H373Q Disease WT1_HUMAN H377R Disease WT1_HUMAN M342R Disease WT1_HUMAN C360G Disease WT1_HUMAN C388F Disease WT1_HUMAN H373Y Disease WT1_HUMAN C355Y Disease WT1_HUMAN L398P Disease WT1_HUMAN R312Q Disease WT1_HUMAN S223N Disease WT1_HUMAN D396N Disease WT1_HUMAN C330Y Disease WT1_HUMAN D396G Disease WT1_HUMAN F383L Disease WT1_HUMAN C385R Disease WT1_HUMAN F392L Disease FXL13_HUMAN M74I Polymorphism EPCR_HUMAN S219G Polymorphism HEXA_HUMAN S210F Disease HEXA_HUMAN G269S Disease HEXA_HUMAN W485R Disease HEXA_HUMAN H204R Disease HEXA_HUMAN L484Q Disease HEXA_HUMAN G269D Disease HEXA_HUMAN K197T Disease HEXA_HUMAN R504C Disease HEXA_HUMAN L39R Disease HEXA_HUMAN S279P Disease HEXA_HUMAN G250S Disease HEXA_HUMAN C458Y Disease HEXA_HUMAN L127R Disease HEXA_HUMAN M301R Disease HEXA_HUMAN S226F Disease HEXA_HUMAN D258H Disease HEXA_HUMAN L127F Disease HEXA_HUMAN G454S Disease HEXA_HUMAN V200M Disease HEXA_HUMAN F211S Disease HEXA_HUMAN W420C Disease HEXA_HUMAN R499H Disease HEXA_HUMAN R252L Disease HEXA_HUMAN V436I Polymorphism HEXA_HUMAN R252H Disease HEXA_HUMAN R499C Disease HEXA_HUMAN N399D Polymorphism HEXA_HUMAN P25S Disease HEXA_HUMAN R170W Disease HEXA_HUMAN G250D Disease HEXA_HUMAN R178L Disease HEXA_HUMAN W474C Disease HEXA_HUMAN R170Q Disease HEXA_HUMAN R178H Disease HEXA_HUMAN Y180H Disease HEXA_HUMAN R178C Disease HEXA_HUMAN R166G Disease HEXA_HUMAN V391M Disease HEXA_HUMAN R504H Disease HEXA_HUMAN D314V Disease HEXA_HUMAN N295S Disease HEXA_HUMAN G455R Disease HEXA_HUMAN E482K Disease HEXA_HUMAN I335F Disease HEXA_HUMAN N196S Disease HEXA_HUMAN V192L Disease AGGF1_HUMAN P698T Polymorphism AGGF1_HUMAN E133K Disease DGC14_HUMAN A31V Polymorphism DGC14_HUMAN V336M Polymorphism DGC14_HUMAN A423V Polymorphism PEX13_HUMAN I326T Disease UD110_HUMAN M59I Polymorphism UD110_HUMAN T202I Polymorphism UD17_HUMAN W208R Polymorphism UD17_HUMAN N129K Polymorphism UD17_HUMAN R131K Polymorphism UD18_HUMAN M212L Polymorphism UD18_HUMAN K132R Polymorphism UD18_HUMAN T202A Polymorphism UD18_HUMAN A173G Polymorphism UD18_HUMAN C277Y Polymorphism UD18_HUMAN G154A Polymorphism TNFL5_HUMAN L258S Disease TNFL5_HUMAN G38R Disease TNFL5_HUMAN G257S Disease TNFL5_HUMAN L155P Disease TNFL5_HUMAN V237E Disease TNFL5_HUMAN T176I Disease TNFL5_HUMAN A123E Disease TNFL5_HUMAN T147N Disease TNFL5_HUMAN Q174R Disease TNFL5_HUMAN G257D Disease TNFL5_HUMAN A235P Disease TNFL5_HUMAN K143T Disease TNFL5_HUMAN G226A Disease TNFL5_HUMAN G219R Polymorphism TNFL5_HUMAN T254M Disease TNFL5_HUMAN G116R Disease TNFL5_HUMAN G116S Disease TNFL5_HUMAN V126A Disease TNFL5_HUMAN M36R Disease TNFL5_HUMAN W140R Disease TNFL5_HUMAN V126D Disease TNFL5_HUMAN W140G Disease TNFL5_HUMAN H125R Disease TNFL5_HUMAN W140C Disease TNFL5_HUMAN L195P Disease TNFL5_HUMAN T211N Disease TNFL5_HUMAN H224Y Disease TNFL5_HUMAN L231S Disease TNFL5_HUMAN A173D Disease TNFL5_HUMAN A208D Disease TNFL5_HUMAN G144E Disease TNFL5_HUMAN G227V Disease TNFL5_HUMAN Y170C Disease PEMT_HUMAN M174V Polymorphism TA2R4_HUMAN V96L Polymorphism TA2R4_HUMAN T74M Polymorphism TA2R4_HUMAN S171N Polymorphism SEMG1_HUMAN S79T Polymorphism SEMG1_HUMAN R372L Polymorphism ST2B1_HUMAN V240I Polymorphism ST2B1_HUMAN L51S Polymorphism ST2B1_HUMAN P345L Polymorphism CCNG1_HUMAN F179L Polymorphism CCNG1_HUMAN N178H Polymorphism PA2G3_HUMAN L157V Polymorphism KCNS1_HUMAN I489V Polymorphism ABHD5_HUMAN E7K Disease ABHD5_HUMAN Q130P Disease ABHD5_HUMAN E260K Disease APOC2_HUMAN K41T Polymorphism APOC2_HUMAN K77Q Polymorphism APOC2_HUMAN E60K Polymorphism APOC2_HUMAN W48R Disease TA2R5_HUMAN S26I Polymorphism CO1A1_HUMAN G776S Disease CO1A1_HUMAN P205A Polymorphism CO1A1_HUMAN G809S Disease CO1A1_HUMAN G1142S Disease CO1A1_HUMAN G842R Disease CO1A1_HUMAN G1025R Disease CO1A1_HUMAN G1061D Disease CO1A1_HUMAN G764V Disease CO1A1_HUMAN G1061S Disease CO1A1_HUMAN D1277H Disease CO1A1_HUMAN G1124C Disease CO1A1_HUMAN G1022S Disease CO1A1_HUMAN G815V Disease CO1A1_HUMAN G737D Disease CO1A1_HUMAN G275D Disease CO1A1_HUMAN G332R Disease CO1A1_HUMAN G1022V Disease CO1A1_HUMAN G728R Disease CO1A1_HUMAN G1100S Disease CO1A1_HUMAN G1049S Disease CO1A1_HUMAN G701C Disease CO1A1_HUMAN G896C Disease CO1A1_HUMAN P823A Polymorphism CO1A1_HUMAN G224C Disease CO1A1_HUMAN G569R Disease CO1A1_HUMAN G743V Disease CO1A1_HUMAN G560R Disease CO1A1_HUMAN G263R Disease CO1A1_HUMAN G1010S Disease CO1A1_HUMAN G719S Disease CO1A1_HUMAN G851D Disease CO1A1_HUMAN G401C Disease CO1A1_HUMAN L1464P Disease CO1A1_HUMAN G1091S Disease CO1A1_HUMAN G869C Disease CO1A1_HUMAN G353C Disease CO1A1_HUMAN G422C Disease CO1A1_HUMAN G533D Disease CO1A1_HUMAN G1151S Disease CO1A1_HUMAN G719D Disease CO1A1_HUMAN G560S Disease CO1A1_HUMAN G383C Disease CO1A1_HUMAN G767S Disease CO1A1_HUMAN G1058S Disease CO1A1_HUMAN G527C Disease CO1A1_HUMAN G434V Disease CO1A1_HUMAN G1076S Disease CO1A1_HUMAN G476R Disease CO1A1_HUMAN G398D Disease CO1A1_HUMAN G389R Disease CO1A1_HUMAN G1106A Disease CO1A1_HUMAN G398A Disease CO1A1_HUMAN G560C Disease CO1A1_HUMAN G1195C Disease CO1A1_HUMAN L1388R Disease CO1A1_HUMAN G845R Disease CO1A1_HUMAN G1151V Disease CO1A1_HUMAN R564H Polymorphism CO1A1_HUMAN W1312C Disease CO1A1_HUMAN G743S Disease CO1A1_HUMAN G272C Disease CO1A1_HUMAN G821S Disease CO1A1_HUMAN G1166C Disease CO1A1_HUMAN R312C Disease CO1A1_HUMAN G980V Disease CO1A1_HUMAN G1181S Disease CO1A1_HUMAN G1154R Disease CO1A1_HUMAN G1184V Disease CO1A1_HUMAN G704C Disease CO1A1_HUMAN G1082C Disease CO1A1_HUMAN T1434S Polymorphism CO1A1_HUMAN G1043S Disease CO1A1_HUMAN G356C Disease CO1A1_HUMAN G656S Disease CO1A1_HUMAN G839S Disease CO1A1_HUMAN G425S Disease CO1A1_HUMAN G1088A Disease CO1A1_HUMAN G1172D Disease CO1A1_HUMAN G350R Disease CO1A1_HUMAN G866S Disease CO1A1_HUMAN G926C Disease CO1A1_HUMAN A1075T Polymorphism CO1A1_HUMAN G1187V Disease GAN_HUMAN R545C Disease GAN_HUMAN S52G Disease GAN_HUMAN L309R Disease GAN_HUMAN R269Q Disease GAN_HUMAN E486K Disease GAN_HUMAN G368R Disease GAN_HUMAN S79L Disease GAN_HUMAN R138H Disease GAN_HUMAN C570Y Disease GAN_HUMAN V82F Disease GAN_HUMAN R15S Disease GAN_HUMAN I423T Disease GAN_HUMAN I86F Disease TFR2_HUMAN M172K Disease BMR1A_HUMAN R443C Disease BMR1A_HUMAN C376Y Disease BMR1A_HUMAN Y62D Disease BMR1A_HUMAN A338D Disease BMR1A_HUMAN C130R Disease BMR1A_HUMAN C124R Disease BMR1A_HUMAN C82Y Disease BMR1A_HUMAN M470T Disease RAB23_HUMAN G207S Polymorphism RALY_HUMAN G251S Polymorphism RALY_HUMAN Q215R Polymorphism CXB4_HUMAN F137L Disease CXB4_HUMAN R103C Polymorphism CXB4_HUMAN E204A Polymorphism DDC_HUMAN V17M Polymorphism DDC_HUMAN G102S Disease DDC_HUMAN E61D Polymorphism DDC_HUMAN R462Q Polymorphism DDC_HUMAN P210L Polymorphism DDC_HUMAN M217V Polymorphism DDC_HUMAN M239I Polymorphism DDC_HUMAN M239L Polymorphism STAR_HUMAN M225T Disease STAR_HUMAN A218V Disease STAR_HUMAN L275P Disease STAR_HUMAN A203D Polymorphism STAR_HUMAN R217T Disease STAR_HUMAN E169G Disease STAR_HUMAN R182L Disease STAR_HUMAN E169K Disease SAT2_HUMAN R126C Polymorphism TCL1B_HUMAN G93R Polymorphism ZIC2_HUMAN Q36P Disease ZIC2_HUMAN D152F Disease TY3H_HUMAN V499M Polymorphism TY3H_HUMAN V112M Polymorphism NOTC4_HUMAN K117Q Polymorphism NOTC4_HUMAN T320A Polymorphism NOTC4_HUMAN E317Q Polymorphism NOTC4_HUMAN D272G Polymorphism NOTC4_HUMAN K851R Polymorphism PSPB_HUMAN L176F Polymorphism PSPB_HUMAN T131I Polymorphism PSPB_HUMAN R272H Polymorphism FGF6_HUMAN V36A Polymorphism FGF6_HUMAN R191W Polymorphism FGF6_HUMAN A63V Polymorphism FGF6_HUMAN D174V Polymorphism 2DMB_HUMAN S45F Polymorphism 2DMB_HUMAN A162V Polymorphism 2DMB_HUMAN A162E Polymorphism 2DMB_HUMAN I197T Polymorphism SOAT2_HUMAN E14G Polymorphism SOAT2_HUMAN T254I Polymorphism SAA_HUMAN G15S Polymorphism UBE2C_HUMAN G25D Polymorphism UQCR1_HUMAN S301N Polymorphism PAWR_HUMAN E202A Polymorphism PAWR_HUMAN G137A Polymorphism PAWR_HUMAN P42L Polymorphism PAWR_HUMAN P78R Polymorphism SPB10_HUMAN R246C Polymorphism GPR1_HUMAN I307V Polymorphism SO2B1_HUMAN S486F Polymorphism HME2_HUMAN L121F Polymorphism IRS1_HUMAN S809F Polymorphism IRS1_HUMAN A512P Polymorphism IRS1_HUMAN M209T Polymorphism IRS1_HUMAN C1095Y Disease IRS1_HUMAN D1137N Polymorphism IRS1_HUMAN S892G Polymorphism IRS1_HUMAN P158R Polymorphism IRS1_HUMAN S1043Y Disease IRS1_HUMAN G971R Polymorphism NSD1_HUMAN G1955D Disease NSD1_HUMAN C2183S Disease NSD1_HUMAN H1616L Disease NSD1_HUMAN H2143Q Disease NSD1_HUMAN C1674W Disease NSD1_HUMAN A1036P Polymorphism NSD1_HUMAN Y1997C Disease NSD1_HUMAN I1687N Disease NSD1_HUMAN G1792V Disease NSD1_HUMAN S726P Polymorphism NSD1_HUMAN V614L Polymorphism NSD1_HUMAN L1091I Polymorphism NSD1_HUMAN M2261T Polymorphism NSD1_HUMAN C1925R Disease NSD1_HUMAN R1984Q Disease NSD1_HUMAN A691T Polymorphism NSD1_HUMAN R2017W Disease NSD1_HUMAN L1637P Disease NSD1_HUMAN R2005Q Disease NSD1_HUMAN M2250I Polymorphism NSD1_HUMAN R2017Q Disease TPPC1_HUMAN R129G Disease HGFL_HUMAN E676K Polymorphism HGFL_HUMAN Y13C Polymorphism HGFL_HUMAN C212F Polymorphism TGBR3_HUMAN A634T Polymorphism TGBR3_HUMAN G764R Polymorphism TGBR3_HUMAN S15F Polymorphism TGBR3_HUMAN S14N Polymorphism TGBR3_HUMAN W163L Polymorphism CCG1_HUMAN G196S Polymorphism NIMM_HUMAN G32R Polymorphism BORIS_HUMAN A177T Polymorphism BORIS_HUMAN E50Q Polymorphism DRD2_HUMAN S311C Polymorphism DRD2_HUMAN V154I Disease DRD2_HUMAN P310S Polymorphism K0195_HUMAN I1040T Polymorphism NTCP_HUMAN S267F Polymorphism C2TA_HUMAN A500G Polymorphism C2TA_HUMAN A658G Polymorphism TBX21_HUMAN H33Q Polymorphism ESTD_HUMAN G257D Polymorphism ESTD_HUMAN G190E Polymorphism MMP19_HUMAN R103C Polymorphism MMP19_HUMAN P488T Polymorphism MMP19_HUMAN T491M Polymorphism DZIP1_HUMAN P736S Polymorphism FBN2_HUMAN P2770S Polymorphism FBN2_HUMAN P2427T Polymorphism FBN2_HUMAN C1141F Disease FBN2_HUMAN C1433S Disease FBN2_HUMAN E390K Disease FBN2_HUMAN V964I Polymorphism FBN2_HUMAN C1252Y Disease FBN2_HUMAN C1252W Disease FBN2_HUMAN D1114H Disease TSHR_HUMAN V509A Disease TSHR_HUMAN C41S Disease TSHR_HUMAN D219E Disease TSHR_HUMAN M463V Disease TSHR_HUMAN L677V Disease TSHR_HUMAN S505R Disease TSHR_HUMAN C390W Disease TSHR_HUMAN S505N Disease TSHR_HUMAN P639S Disease TSHR_HUMAN T632I Disease TSHR_HUMAN M453T Disease TSHR_HUMAN G431S Disease TSHR_HUMAN R109Q Disease TSHR_HUMAN C672Y Disease TSHR_HUMAN T632A Disease TSHR_HUMAN K723M Disease TSHR_HUMAN S281I Disease TSHR_HUMAN N650Y Disease TSHR_HUMAN L512R Disease TSHR_HUMAN A703G Polymorphism TSHR_HUMAN F525L Disease TSHR_HUMAN N670S Disease TSHR_HUMAN I606M Polymorphism TSHR_HUMAN A553T Disease TSHR_HUMAN G498S Disease TSHR_HUMAN K183R Disease TSHR_HUMAN S281T Disease TSHR_HUMAN F631C Disease TSHR_HUMAN P162A Disease TSHR_HUMAN I167N Disease TSHR_HUMAN D633H Disease TSHR_HUMAN L467P Disease TSHR_HUMAN F631L Disease TSHR_HUMAN I630L Disease TSHR_HUMAN A623I Disease TSHR_HUMAN C600R Disease TSHR_HUMAN R528H Polymorphism TSHR_HUMAN R310C Disease TSHR_HUMAN F197I Disease TSHR_HUMAN A623V Disease TSHR_HUMAN L629F Disease TSHR_HUMAN D727E Polymorphism TSHR_HUMAN Q720E Polymorphism TSHR_HUMAN S281N Disease TSHR_HUMAN V597L Disease TSHR_HUMAN L252P Disease TSHR_HUMAN T477I Disease TSHR_HUMAN D633A Disease TSHR_HUMAN V597F Disease TSHR_HUMAN P52T Polymorphism TSHR_HUMAN D633E Disease TSHR_HUMAN D619G Disease TSHR_HUMAN D633Y Disease TSHR_HUMAN A647V Disease TSHR_HUMAN I486M Disease TSHR_HUMAN I568T Disease TSHR_HUMAN R450H Disease TSHR_HUMAN I486F Disease TSHR_HUMAN N715D Disease TSHR_HUMAN D410N Disease FMR1_HUMAN R546H Polymorphism FMR1_HUMAN I304N Disease CYTD_HUMAN C46R Polymorphism CABP5_HUMAN V128A Polymorphism IKKB_HUMAN R554W Polymorphism PLEC1_HUMAN R2110W Disease CLD6_HUMAN V143I Polymorphism ORC2_HUMAN R521Q Polymorphism ORC2_HUMAN M106K Polymorphism CI093_HUMAN I17N Polymorphism CI093_HUMAN S121T Polymorphism CI093_HUMAN K1069R Polymorphism CPSM_HUMAN H337R Disease CPSM_HUMAN T544M Disease CPSM_HUMAN M1283L Polymorphism CPSM_HUMAN G1376S Polymorphism CPSM_HUMAN L843S Disease CPSM_HUMAN K875E Disease CPSM_HUMAN V457G Disease CPSM_HUMAN Q810R Disease CPSM_HUMAN T344A Polymorphism CPSM_HUMAN T1406N Polymorphism CPSM_HUMAN F1266S Polymorphism TRPA1_HUMAN E179K Polymorphism TRPA1_HUMAN N186K Polymorphism TRPA1_HUMAN H1018R Polymorphism TRPA1_HUMAN C3R Polymorphism SCNNG_HUMAN R178W Polymorphism SCNNG_HUMAN G49C Polymorphism SCNNG_HUMAN G183S Polymorphism SCNNG_HUMAN A614S Polymorphism SCNNG_HUMAN P502A Polymorphism FGFR3_HUMAN K650E Disease FGFR3_HUMAN A717T Polymorphism FGFR3_HUMAN G65R Polymorphism FGFR3_HUMAN F384L Polymorphism FGFR3_HUMAN G375C Disease FGFR3_HUMAN Y373C Disease FGFR3_HUMAN I538V Disease FGFR3_HUMAN N540S Disease FGFR3_HUMAN P250R Polymorphism FGFR3_HUMAN E322K Disease FGFR3_HUMAN N540K Disease FGFR3_HUMAN N540T Disease FGFR3_HUMAN K650M Disease FGFR3_HUMAN K650Q Disease FGFR3_HUMAN R248C Disease FGFR3_HUMAN A441T Polymorphism FGFR3_HUMAN S371C Disease FGFR3_HUMAN S249C Disease FGFR3_HUMAN G370C Disease FGFR3_HUMAN G380R Disease FGFR3_HUMAN I726F Polymorphism KCMA1_HUMAN D434G Disease LMBL2_HUMAN R300W Polymorphism ECHA_HUMAN E510Q Disease ECHA_HUMAN I305N Disease ECHA_HUMAN L342P Disease ECHA_HUMAN V282D Disease ZF276_HUMAN E530D Polymorphism ABCC8_HUMAN G715V Disease ABCC8_HUMAN G1380S Disease ABCC8_HUMAN G1477R Disease ABCC8_HUMAN G1377R Disease ABCC8_HUMAN R1435Q Disease ABCC8_HUMAN H124Q Disease ABCC8_HUMAN R274Q Polymorphism ABCC8_HUMAN R1492W Disease ABCC8_HUMAN T1137M Disease ABCC8_HUMAN R1419C Disease ABCC8_HUMAN R1213Q Disease ABCC8_HUMAN L1542P Disease ABCC8_HUMAN R833C Polymorphism ABCC8_HUMAN N187S Disease ABCC8_HUMAN F590L Disease ABCC8_HUMAN V1571I Polymorphism ABCC8_HUMAN R1351P Disease ABCC8_HUMAN N405D Disease ABCC8_HUMAN V1359M Disease ABCC8_HUMAN R73Q Disease ABCC8_HUMAN V1359G Polymorphism ABCC8_HUMAN R1392H Disease ABCC8_HUMAN S1368A Polymorphism ABCC8_HUMAN V559M Polymorphism ABCC8_HUMAN D672N Polymorphism ABCC8_HUMAN E1505K Disease ABCC8_HUMAN D809N Polymorphism ABCC8_HUMAN V186D Disease RA51D_HUMAN R165Q Polymorphism RA51D_HUMAN R232Q Polymorphism RA51D_HUMAN A225T Polymorphism RA51D_HUMAN E233G Polymorphism RA51D_HUMAN R24S Polymorphism SAM50_HUMAN V345I Polymorphism K0562_HUMAN A686V Polymorphism CACB4_HUMAN C104F Disease FGD2_HUMAN Q32H Polymorphism LEG3_HUMAN P97T Polymorphism LEG3_HUMAN H63P Polymorphism FBX30_HUMAN H583Q Polymorphism RGR_HUMAN S66R Disease RGR_HUMAN S241F Polymorphism RGR_HUMAN H152N Polymorphism RGR_HUMAN A234T Polymorphism RGR_HUMAN V132L Polymorphism CHD7_HUMAN I266V Disease CHD7_HUMAN L495R Disease S13A2_HUMAN I550V Polymorphism S13A2_HUMAN P385S Polymorphism LBR_HUMAN P569R Disease LBR_HUMAN T311A Polymorphism LBR_HUMAN P119L Disease TGM5_HUMAN A351G Polymorphism TGM5_HUMAN P66S Polymorphism TTLL3_HUMAN M290R Polymorphism CBLC_HUMAN Y405H Polymorphism MYO15_HUMAN I2113F Disease MYO15_HUMAN N2111Y Disease NRG1_HUMAN M462K Polymorphism NRG1_HUMAN R37Q Polymorphism TITF1_HUMAN R213S Disease TITF1_HUMAN W208L Disease K1C18_HUMAN G339R Disease K1C18_HUMAN T102A Disease K1C18_HUMAN H127L Disease K1C18_HUMAN R260Q Disease K1C18_HUMAN S229T Polymorphism E2F2_HUMAN G205R Polymorphism E2F2_HUMAN Q226H Polymorphism IL1R1_HUMAN A124G Polymorphism LRAT_HUMAN S175R Disease ESCO2_HUMAN W539G Disease TEKT1_HUMAN V332I Polymorphism TEKT1_HUMAN R254C Polymorphism SYUA_HUMAN E46K Disease SYUA_HUMAN A53T Disease SYUA_HUMAN A30P Disease C1S_HUMAN R383H Polymorphism MECP2_HUMAN L100R Disease MECP2_HUMAN P302L Disease MECP2_HUMAN L100V Disease MECP2_HUMAN E137G Disease MECP2_HUMAN R167W Disease MECP2_HUMAN P302A Disease MECP2_HUMAN P480S Polymorphism MECP2_HUMAN R111G Disease MECP2_HUMAN R106W Disease MECP2_HUMAN A444T Polymorphism MECP2_HUMAN P402L Polymorphism MECP2_HUMAN P302R Disease MECP2_HUMAN P399L Disease MECP2_HUMAN A439T Polymorphism MECP2_HUMAN A181V Polymorphism MECP2_HUMAN G232A Polymorphism MECP2_HUMAN D97Y Disease MECP2_HUMAN R453Q Disease MECP2_HUMAN P225R Disease MECP2_HUMAN Y120D Disease MECP2_HUMAN G161V Disease MECP2_HUMAN S291A Polymorphism MECP2_HUMAN P251L Polymorphism MECP2_HUMAN K135E Disease MECP2_HUMAN K305R Disease MECP2_HUMAN P302H Disease MECP2_HUMAN D97E Disease MECP2_HUMAN S359P Polymorphism MECP2_HUMAN E397K Polymorphism MECP2_HUMAN P101H Disease MECP2_HUMAN P322L Disease MECP2_HUMAN K284E Disease MECP2_HUMAN E10Q Disease MECP2_HUMAN R133C Disease MECP2_HUMAN T228S Polymorphism MECP2_HUMAN P388L Polymorphism MECP2_HUMAN S229L Polymorphism MECP2_HUMAN E394K Polymorphism MECP2_HUMAN P322A Disease MECP2_HUMAN R133H Disease MECP2_HUMAN T197M Polymorphism MECP2_HUMAN A140V Disease MECP2_HUMAN D156G Disease MECP2_HUMAN F155I Disease MECP2_HUMAN Q128P Disease MECP2_HUMAN S86C Polymorphism MECP2_HUMAN S134C Disease MECP2_HUMAN T196S Polymorphism MECP2_HUMAN A201V Polymorphism MECP2_HUMAN R344W Disease MECP2_HUMAN R106Q Disease MECP2_HUMAN T158M Disease MECP2_HUMAN A287P Polymorphism MECP2_HUMAN P152R Disease MECP2_HUMAN P101T Disease MECP2_HUMAN R306C Disease MECP2_HUMAN R306H Disease MECP2_HUMAN V412I Polymorphism MECP2_HUMAN P101S Disease MECP2_HUMAN P101R Disease MECP2_HUMAN P101L Disease MECP2_HUMAN P376S Polymorphism MECP2_HUMAN K210I Disease MECP2_HUMAN F155S Disease MECP2_HUMAN G428S Polymorphism MECP2_HUMAN T158A Disease MECP2_HUMAN L124F Disease MECP2_HUMAN T203M Polymorphism OXA1L_HUMAN V91I Polymorphism OXA1L_HUMAN V44A Polymorphism AQP11_HUMAN G102S Polymorphism MFN1_HUMAN R523P Polymorphism TTF2_HUMAN K167E Polymorphism DCE2_HUMAN K286R Polymorphism DCE2_HUMAN R375Q Polymorphism DCE2_HUMAN G12R Polymorphism DCE2_HUMAN K124N Polymorphism ACADL_HUMAN Q333K Disease ACADL_HUMAN T303S Polymorphism SURF2_HUMAN G213S Polymorphism MGST2_HUMAN A101V Polymorphism CSF3_HUMAN L157M Polymorphism CSF3_HUMAN A174T Polymorphism RAD21_HUMAN G481R Polymorphism SMRD3_HUMAN P170S Polymorphism IL9R_HUMAN E239Q Polymorphism I10R2_HUMAN K47E Polymorphism PRAX_HUMAN P1083R Polymorphism PRAX_HUMAN R1132G Polymorphism PRAX_HUMAN A406T Polymorphism PRAX_HUMAN K935E Polymorphism PRAX_HUMAN I921M Polymorphism PRAX_HUMAN R1411C Polymorphism PRAX_HUMAN E495Q Polymorphism PRAX_HUMAN V882A Polymorphism PRAX_HUMAN E1259K Polymorphism THB1_HUMAN R243W Disease THB1_HUMAN G332R Disease THB1_HUMAN P453H Disease THB1_HUMAN A234T Disease THB1_HUMAN P453T Disease THB1_HUMAN P453S Disease THB1_HUMAN G345R Disease THB1_HUMAN G345S Disease THB1_HUMAN G345V Disease THB1_HUMAN C446R Disease THB1_HUMAN M442V Disease THB1_HUMAN G347E Disease THB1_HUMAN K443E Disease THB1_HUMAN Q340H Disease THB1_HUMAN T337I Polymorphism THB1_HUMAN K342I Disease THB1_HUMAN R320C Disease THB1_HUMAN T426I Disease THB1_HUMAN R320H Disease THB1_HUMAN V348E Disease THB1_HUMAN R316H Disease THB1_HUMAN A317T Disease THB1_HUMAN R338W Disease THB1_HUMAN R438H Disease SP3_HUMAN T164A Polymorphism EST1A_HUMAN K294Q Polymorphism EST1A_HUMAN A972T Polymorphism EST1A_HUMAN R291P Polymorphism EST1A_HUMAN T341N Polymorphism EST1A_HUMAN H1233R Polymorphism CATE_HUMAN T329I Polymorphism RNZ1_HUMAN M355V Polymorphism CNTN2_HUMAN A145T Polymorphism CNTN2_HUMAN R657W Polymorphism GSTA2_HUMAN E209A Polymorphism GSTA2_HUMAN V148A Polymorphism GSTA2_HUMAN P109S Polymorphism GSTA2_HUMAN T111S Polymorphism AK1C2_HUMAN L172Q Polymorphism AK1C3_HUMAN Q5H Polymorphism AK1C3_HUMAN M175I Polymorphism FAK2_HUMAN K838T Polymorphism LHX3_HUMAN Y111C Disease SUMF1_HUMAN S155P Disease SUMF1_HUMAN N259I Disease SUMF1_HUMAN A177P Disease SUMF1_HUMAN R345C Disease SUMF1_HUMAN A279V Disease SUMF1_HUMAN S63N Polymorphism SUMF1_HUMAN C336R Disease SUMF1_HUMAN C218Y Disease SUMF1_HUMAN A348P Disease SUMF1_HUMAN R224W Disease SUMF1_HUMAN L20F Disease SUMF1_HUMAN R349Q Disease SUMF1_HUMAN P266L Disease SUMF1_HUMAN R349W Disease PAPPA_HUMAN R945S Polymorphism PAPPA_HUMAN S1225Y Polymorphism SHOX_HUMAN R153L Disease SHOX_HUMAN L132V Disease SHOX_HUMAN R168W Disease SHOX_HUMAN R173C Disease CDK7_HUMAN T285M Polymorphism CDK7_HUMAN G163A Polymorphism NTRK2_HUMAN G309R Polymorphism NTRK2_HUMAN N338Y Polymorphism MCM4_HUMAN L650M Polymorphism MCM4_HUMAN E460G Polymorphism KIF1B_HUMAN Q98L Disease VMD2_HUMAN L100R Disease VMD2_HUMAN A243V Disease VMD2_HUMAN R218C Disease VMD2_HUMAN R13H Disease VMD2_HUMAN P297S Disease VMD2_HUMAN D312N Disease VMD2_HUMAN E578V Polymorphism VMD2_HUMAN L21V Disease VMD2_HUMAN T6P Disease VMD2_HUMAN G299E Disease VMD2_HUMAN T6R Disease VMD2_HUMAN I310T Disease VMD2_HUMAN Q293K Disease VMD2_HUMAN V235M Disease VMD2_HUMAN P297A Disease VMD2_HUMAN G26R Disease VMD2_HUMAN A10V Disease VMD2_HUMAN E300K Disease VMD2_HUMAN A10T Disease VMD2_HUMAN D104E Disease VMD2_HUMAN L224M Disease VMD2_HUMAN T561A Polymorphism VMD2_HUMAN E525A Polymorphism VMD2_HUMAN L567F Polymorphism VMD2_HUMAN T307I Disease VMD2_HUMAN F305S Disease VMD2_HUMAN D104H Disease VMD2_HUMAN I73N Disease VMD2_HUMAN S16F Disease VMD2_HUMAN W24C Disease VMD2_HUMAN V9A Disease VMD2_HUMAN Q96H Disease VMD2_HUMAN W102R Disease VMD2_HUMAN Q58L Disease VMD2_HUMAN N296S Disease VMD2_HUMAN A195V Disease VMD2_HUMAN E557K Polymorphism VMD2_HUMAN A146K Disease VMD2_HUMAN V9M Disease VMD2_HUMAN V89A Disease VMD2_HUMAN L82V Disease VMD2_HUMAN S231R Disease VMD2_HUMAN K30R Disease VMD2_HUMAN V311G Disease VMD2_HUMAN Y85H Disease VMD2_HUMAN D301N Disease VMD2_HUMAN R92S Disease VMD2_HUMAN N99K Disease VMD2_HUMAN L67V Polymorphism VMD2_HUMAN W93C Disease VMD2_HUMAN T237R Disease VMD2_HUMAN S27R Disease VMD2_HUMAN S209N Disease VMD2_HUMAN L41P Disease VMD2_HUMAN R218Q Disease VMD2_HUMAN R92C Disease VMD2_HUMAN E119Q Disease VMD2_HUMAN F17C Disease VMD2_HUMAN R47H Disease VMD2_HUMAN F80L Disease VMD2_HUMAN R218S Disease VMD2_HUMAN L140R Disease VMD2_HUMAN R92H Disease VMD2_HUMAN P101T Disease VMD2_HUMAN R218H Disease VMD2_HUMAN N11I Disease VMD2_HUMAN G135S Disease VMD2_HUMAN Y227C Disease VMD2_HUMAN V235L Disease VMD2_HUMAN N133K Disease VMD2_HUMAN E300D Disease VMD2_HUMAN T91I Disease VMD2_HUMAN R25W Disease VMD2_HUMAN Y29H Disease VMD2_HUMAN R141H Disease VMD2_HUMAN D301E Disease VMD2_HUMAN R25Q Disease VMD2_HUMAN Y227N Disease CU122_HUMAN L11V Polymorphism TTRAP_HUMAN Q249E Polymorphism TTRAP_HUMAN R268Q Polymorphism PO5F1_HUMAN T322A Polymorphism PO5F1_HUMAN M357L Polymorphism FRDA_HUMAN L106S Disease FRDA_HUMAN L198R Disease FRDA_HUMAN D122Y Disease FRDA_HUMAN R165C Disease FRDA_HUMAN G130V Disease FRDA_HUMAN L182F Disease FRDA_HUMAN I154F Disease FRDA_HUMAN W155R Disease DNM3B_HUMAN V699G Disease DNM3B_HUMAN A585V Disease DNM3B_HUMAN S270P Disease DNM3B_HUMAN V818M Disease DNM3B_HUMAN D817G Disease DNM3B_HUMAN L664P Disease DNM3B_HUMAN R840Q Disease DNM3B_HUMAN A603T Disease DNM3B_HUMAN H814R Disease DNM3B_HUMAN A766P Disease DNM3B_HUMAN V726G Disease DNM3B_HUMAN V606A Disease DNM3B_HUMAN G663S Disease VWF_HUMAN P1266L Disease VWF_HUMAN V1607D Disease VWF_HUMAN G1324S Disease VWF_HUMAN R1399H Polymorphism VWF_HUMAN R1306W Disease VWF_HUMAN N528S Disease VWF_HUMAN V1665E Disease VWF_HUMAN S1613P Disease VWF_HUMAN V1316M Disease VWF_HUMAN G1609R Disease VWF_HUMAN N2546Y Disease VWF_HUMAN R1597Q Disease VWF_HUMAN R1597W Disease VWF_HUMAN R1374C Disease VWF_HUMAN R1597G Disease VWF_HUMAN C2773R Disease VWF_HUMAN G550R Disease VWF_HUMAN L1540P Disease VWF_HUMAN P1648S Disease VWF_HUMAN R1308C Disease VWF_HUMAN I1628T Disease VWF_HUMAN A1381T Polymorphism VWF_HUMAN L1460V Disease VWF_HUMAN C2739Y Disease VWF_HUMAN T789A Polymorphism VWF_HUMAN A1461V Disease VWF_HUMAN F1514C Disease VWF_HUMAN V1565L Polymorphism VWF_HUMAN R852Q Polymorphism VWF_HUMAN E1638K Disease VWF_HUMAN W377C Disease VWF_HUMAN C1272R Disease VWF_HUMAN R1341Q Disease VWF_HUMAN W1313C Disease VWF_HUMAN C2362F Disease VWF_HUMAN C788Y Disease VWF_HUMAN Y1584C Polymorphism VWF_HUMAN R1374H Disease VWF_HUMAN V1318L Disease VWF_HUMAN V1314L Disease VWF_HUMAN P2063S Disease VWF_HUMAN R273W Disease VWF_HUMAN N857D Polymorphism VWF_HUMAN H1268D Disease CAN10_HUMAN A341V Polymorphism CAN10_HUMAN P200T Polymorphism CAN10_HUMAN A529S Polymorphism CAN10_HUMAN V666I Polymorphism CAN10_HUMAN T504A Polymorphism CAN10_HUMAN S613N Polymorphism CAN10_HUMAN R202H Polymorphism CXCR5_HUMAN G344S Polymorphism UHRF1_HUMAN L713F Polymorphism UHRF1_HUMAN D240H Polymorphism UHRF1_HUMAN T642M Polymorphism UHRF1_HUMAN A638T Polymorphism UHRF1_HUMAN E379K Polymorphism GCSH_HUMAN N73S Polymorphism GCSH_HUMAN L21S Polymorphism SEM3D_HUMAN K701Q Polymorphism CO8A2_HUMAN G3R Polymorphism CO8A2_HUMAN G357R Disease CO8A2_HUMAN R155Q Disease CO8A2_HUMAN R434H Disease CO8A2_HUMAN T645I Polymorphism CO8A2_HUMAN R304Q Disease CO8A2_HUMAN Q455K Disease CO8A2_HUMAN T502M Polymorphism CO8A2_HUMAN P575L Disease MYPT2_HUMAN I182V Polymorphism RGS10_HUMAN A94V Polymorphism AFF1_HUMAN P209A Polymorphism K22E_HUMAN E493D Disease K22E_HUMAN N192Y Disease K22E_HUMAN T485P Disease K22E_HUMAN E493K Disease K22E_HUMAN N192K Disease K22E_HUMAN Q187P Disease K22E_HUMAN L490P Disease K22E_HUMAN E482K Disease K22E_HUMAN N192D Disease K22E_HUMAN I188N Disease HPTR_HUMAN D339H Polymorphism IRK11_HUMAN E23K Polymorphism IRK11_HUMAN I337V Polymorphism IRK11_HUMAN E10K Polymorphism IRK11_HUMAN S385C Polymorphism IRK11_HUMAN L270V Polymorphism IRK11_HUMAN L147P Disease IRK11_HUMAN L355P Disease IRK11_HUMAN R195H Polymorphism LGR8_HUMAN I604V Polymorphism LGR8_HUMAN T222P Disease RIMB1_HUMAN Q514R Polymorphism RIMB1_HUMAN A1140P Polymorphism RIMB1_HUMAN G1830E Polymorphism RIMB1_HUMAN H1118L Polymorphism RIMB1_HUMAN A586T Polymorphism RIMB1_HUMAN R1253C Polymorphism CCL15_HUMAN I24T Polymorphism APBA3_HUMAN K276T Polymorphism APBA3_HUMAN I527F Polymorphism SUOX_HUMAN R309H Disease SUOX_HUMAN R211Q Disease SUOX_HUMAN G473D Disease SUOX_HUMAN K322R Disease SUOX_HUMAN G305S Disease SUOX_HUMAN W393R Disease SUOX_HUMAN A208D Disease SUOX_HUMAN Q339R Disease SUOX_HUMAN I201L Disease SUOX_HUMAN S370Y Disease SUOX_HUMAN R160Q Disease OPSG_HUMAN C203R Disease OPSR_HUMAN C203R Disease OPSR_HUMAN A298P Polymorphism OPSR_HUMAN I230T Polymorphism OPSR_HUMAN I111V Polymorphism OPSR_HUMAN T65I Polymorphism OPSR_HUMAN L153M Polymorphism OPSR_HUMAN Y309F Polymorphism OPSR_HUMAN S180A Polymorphism OPSR_HUMAN A174V Polymorphism OPSR_HUMAN S116Y Polymorphism OPSR_HUMAN P307L Disease AT10A_HUMAN R1298S Polymorphism AT10A_HUMAN W1172C Polymorphism AT10A_HUMAN I1188V Polymorphism AT10A_HUMAN A1179T Polymorphism AT10A_HUMAN T532M Polymorphism AT10A_HUMAN A784T Polymorphism CTN1_HUMAN P219S Polymorphism CTN1_HUMAN A179V Polymorphism STH_HUMAN Q7R Polymorphism MDC1_HUMAN S586A Polymorphism MDC1_HUMAN E371K Polymorphism MDC1_HUMAN E1509D Polymorphism MDC1_HUMAN E251K Polymorphism MDC1_HUMAN R268K Polymorphism MDC1_HUMAN S1540P Polymorphism ADIPO_HUMAN V117M Polymorphism ADIPO_HUMAN G84R Polymorphism ADIPO_HUMAN I164T Polymorphism ADIPO_HUMAN R221S Polymorphism ADIPO_HUMAN H241P Polymorphism ADIPO_HUMAN R112C Disease LRP3_HUMAN A708V Polymorphism ZN141_HUMAN K358N Polymorphism ZN141_HUMAN K124E Polymorphism ZN141_HUMAN R349K Polymorphism PGH2_HUMAN P428A Polymorphism PGH2_HUMAN V511A Polymorphism PGH2_HUMAN E488G Polymorphism PGH2_HUMAN M1I Polymorphism PGH2_HUMAN G587R Polymorphism PGH2_HUMAN R228H Polymorphism PPBT_HUMAN R136H Disease PPBT_HUMAN A51V Disease PPBT_HUMAN I490F Disease PPBT_HUMAN A33V Disease PPBT_HUMAN G456R Disease PPBT_HUMAN V423A Disease PPBT_HUMAN A40V Disease PPBT_HUMAN A179T Disease PPBT_HUMAN V382I Disease PPBT_HUMAN A116T Disease PPBT_HUMAN Y436H Disease PPBT_HUMAN G63V Disease PPBT_HUMAN E291K Disease PPBT_HUMAN D378V Disease PPBT_HUMAN G334D Disease PPBT_HUMAN E191K Disease PPBT_HUMAN N478I Disease PPBT_HUMAN G120R Disease PPBT_HUMAN E191G Disease PPBT_HUMAN D294Y Disease PPBT_HUMAN A348T Disease PPBT_HUMAN A176T Disease PPBT_HUMAN D294A Disease PPBT_HUMAN G326R Disease PPBT_HUMAN G426C Disease PPBT_HUMAN R152H Disease PPBT_HUMAN G220V Disease PPBT_HUMAN G249V Disease PPBT_HUMAN Y28C Disease PPBT_HUMAN K224E Disease PPBT_HUMAN R71P Disease PPBT_HUMAN M62L Disease PPBT_HUMAN A132V Disease PPBT_HUMAN F327L Disease PPBT_HUMAN L289F Disease PPBT_HUMAN N170D Disease PPBT_HUMAN R223W Disease PPBT_HUMAN C201Y Disease PPBT_HUMAN R184W Disease PPBT_HUMAN R246S Disease PPBT_HUMAN G491R Disease PPBT_HUMAN F327G Disease PPBT_HUMAN N211D Disease PPBT_HUMAN A399S Disease PPBT_HUMAN R71C Disease PPBT_HUMAN T134N Disease PPBT_HUMAN H381R Disease PPBT_HUMAN R71H Disease PPBT_HUMAN A111T Disease PPBT_HUMAN Q207P Disease PPBT_HUMAN D306V Disease PPBT_HUMAN V522A Polymorphism PPBT_HUMAN E476K Disease PPBT_HUMAN H171Y Disease PPBT_HUMAN G162V Disease PPBT_HUMAN E235G Disease PPBT_HUMAN C489S Disease PPBT_HUMAN A177T Disease PPBT_HUMAN G75S Disease PPBT_HUMAN S445P Disease PPBT_HUMAN G473S Disease PPBT_HUMAN G129R Disease PPBT_HUMAN R450H Disease PPBT_HUMAN D406G Disease PPBT_HUMAN S181L Disease PPBT_HUMAN R391C Disease PPBT_HUMAN V459M Disease PPBT_HUMAN R450C Disease PPBT_HUMAN Y263H Polymorphism CLCN2_HUMAN G715E Disease UPK3A_HUMAN A154P Polymorphism PAR4_HUMAN P310L Polymorphism PAR4_HUMAN F296V Polymorphism PPID_HUMAN G334E Polymorphism PPID_HUMAN L301I Polymorphism PPID_HUMAN R48C Polymorphism DTX2_HUMAN T421A Polymorphism DTX2_HUMAN A94T Polymorphism DTX2_HUMAN G384E Polymorphism PRG4_HUMAN R180W Polymorphism DNJBB_HUMAN I264V Polymorphism KPCT_HUMAN P330L Polymorphism KCNE1_HUMAN D85N Polymorphism KCNE1_HUMAN L51H Disease KCNE1_HUMAN T7I Disease KCNE1_HUMAN R98W Disease KCNE1_HUMAN V47F Disease KCNE1_HUMAN D76N Disease KCNE1_HUMAN S38G Polymorphism KCNE1_HUMAN S74L Disease KCNE1_HUMAN W87R Disease KCNE1_HUMAN R32H Disease KCNE1_HUMAN V109I Disease KCNE1_HUMAN P127T Disease GLR_HUMAN P114A Polymorphism GLR_HUMAN G40S Polymorphism ARH_HUMAN P202H Disease OSR10_HUMAN N254D Polymorphism RB33A_HUMAN M102T Polymorphism TRPS1_HUMAN R908P Disease TRPS1_HUMAN R908Q Disease TRPS1_HUMAN V894D Disease TRPS1_HUMAN A919T Disease TRPS1_HUMAN T901P Disease MYH7_HUMAN R204H Disease MYH7_HUMAN R1382W Disease MYH7_HUMAN R719Q Disease MYH7_HUMAN A355T Disease MYH7_HUMAN S532P Disease MYH7_HUMAN A1777T Disease MYH7_HUMAN A1124S Polymorphism MYH7_HUMAN P731L Disease MYH7_HUMAN V1692M Polymorphism MYH7_HUMAN G741R Disease MYH7_HUMAN G741W Disease MYH7_HUMAN V406M Disease MYH7_HUMAN G768R Disease MYH7_HUMAN G716R Disease MYH7_HUMAN M877K Disease MYH7_HUMAN T188N Disease MYH7_HUMAN G256E Disease MYH7_HUMAN R143Q Disease MYH7_HUMAN Y162C Disease MYH7_HUMAN D778G Disease MYH7_HUMAN K615N Disease MYH7_HUMAN L908V Disease MYH7_HUMAN E949K Disease MYH7_HUMAN A1663P Disease MYH7_HUMAN M852T Disease MYH7_HUMAN A797T Disease MYH7_HUMAN E1218Q Disease MYH7_HUMAN L390V Disease MYH7_HUMAN A223T Disease MYH7_HUMAN N479S Disease MYH7_HUMAN R870C Disease MYH7_HUMAN S1776G Disease MYH7_HUMAN R870H Disease MYH7_HUMAN E1555K Disease MYH7_HUMAN R719W Disease MYH7_HUMAN E924K Disease MYH7_HUMAN T1377M Disease MYH7_HUMAN N602S Disease MYH7_HUMAN R190T Disease MYH7_HUMAN R1845W Disease MYH7_HUMAN N232S Disease MYH7_HUMAN G584R Disease MYH7_HUMAN A428V Disease MYH7_HUMAN L1135R Disease MYH7_HUMAN V39M Disease MYH7_HUMAN R671C Disease MYH7_HUMAN Q595R Disease MYH7_HUMAN S1491C Polymorphism MYH7_HUMAN I443T Disease MYH7_HUMAN R712L Disease MYH7_HUMAN N187K Disease MYH7_HUMAN E499K Disease MYH7_HUMAN L601V Disease MYH7_HUMAN A26V Disease MYH7_HUMAN A728V Disease MYH7_HUMAN E930K Disease MYH7_HUMAN F244L Disease MYH7_HUMAN R694C Disease MYH7_HUMAN S642L Disease MYH7_HUMAN R663S Disease MYH7_HUMAN D107E Polymorphism MYH7_HUMAN R249Q Disease MYH7_HUMAN T124I Disease MYH7_HUMAN M349T Disease MYH7_HUMAN F764L Disease MYH7_HUMAN F513C Disease MYH7_HUMAN R663H Disease MYH7_HUMAN R869C Disease MYH7_HUMAN R869G Disease MYH7_HUMAN R1500P Disease MYH7_HUMAN E846Q Disease MYH7_HUMAN E935K Disease MYH7_HUMAN N696S Disease MYH7_HUMAN V320M Disease MYH7_HUMAN S782N Disease MYH7_HUMAN I263T Disease MYH7_HUMAN E743D Disease MYH7_HUMAN E483K Disease MYH7_HUMAN R453C Disease MYH7_HUMAN D587V Disease MYH7_HUMAN L1706P Disease MYH7_HUMAN D778E Disease MYH7_HUMAN A1379T Disease MYH7_HUMAN M659I Disease MYH7_HUMAN R787H Disease MYH7_HUMAN V59I Disease MYH7_HUMAN V606M Disease MYH7_HUMAN R403W Disease MYH7_HUMAN R723G Disease MYH7_HUMAN G733E Disease MYH7_HUMAN R723C Disease MYH7_HUMAN R403Q Disease MYH7_HUMAN Q222K Disease MYH7_HUMAN I736M Disease MYH7_HUMAN R403L Disease S10A6_HUMAN N69S Polymorphism S10A6_HUMAN H27R Polymorphism S10A6_HUMAN I83T Polymorphism DPOD4_HUMAN R39P Polymorphism PDRN4_HUMAN G429S Polymorphism TXD10_HUMAN P61S Polymorphism 5HT2A_HUMAN H452Y Polymorphism 5HT2A_HUMAN I197V Polymorphism 5HT2A_HUMAN A447V Polymorphism 5HT2A_HUMAN T25N Polymorphism NFIP2_HUMAN A136V Polymorphism F13A_HUMAN T550I Polymorphism F13A_HUMAN R681H Disease F13A_HUMAN Y204F Polymorphism F13A_HUMAN V650I Polymorphism F13A_HUMAN V34L Polymorphism F13A_HUMAN V39I Polymorphism F13A_HUMAN P564L Polymorphism F13A_HUMAN Q651E Polymorphism F13A_HUMAN L588Q Polymorphism P53_HUMAN R282L Disease P53_HUMAN P278A Disease P53_HUMAN P300R Disease P53_HUMAN P177L Disease P53_HUMAN R156P Disease P53_HUMAN P278H Disease P53_HUMAN Y126N Disease P53_HUMAN P278T Disease P53_HUMAN L35F Disease P53_HUMAN P278S Disease P53_HUMAN R282W Disease P53_HUMAN I232T Disease P53_HUMAN L257P Disease P53_HUMAN G245V Disease P53_HUMAN Y205C Disease P53_HUMAN V172A Disease P53_HUMAN C277G Disease P53_HUMAN P278L Disease P53_HUMAN Y234C Disease P53_HUMAN C141Y Disease P53_HUMAN E258K Disease P53_HUMAN Y163H Disease P53_HUMAN R273C Disease P53_HUMAN R273G Disease P53_HUMAN P301L Disease P53_HUMAN H193R Disease P53_HUMAN R273H Disease P53_HUMAN C182S Disease P53_HUMAN P72R Polymorphism P53_HUMAN P128S Disease P53_HUMAN R213Q Disease P53_HUMAN H193D Disease P53_HUMAN Q136E Disease P53_HUMAN Q165L Disease P53_HUMAN I162S Disease P53_HUMAN D281G Disease P53_HUMAN I162V Disease P53_HUMAN P60S Disease P53_HUMAN Q165R Disease P53_HUMAN C176F Disease P53_HUMAN E285K Disease P53_HUMAN T230I Disease P53_HUMAN A189P Disease P53_HUMAN T155A Disease P53_HUMAN G302V Disease P53_HUMAN C176W Disease P53_HUMAN T125M Disease P53_HUMAN D184Y Disease P53_HUMAN K292I Disease P53_HUMAN E285V Disease P53_HUMAN V272L Disease P53_HUMAN E286Q Disease P53_HUMAN P153T Disease P53_HUMAN G245D Disease P53_HUMAN G245C Disease P53_HUMAN L194R Disease P53_HUMAN G245A Disease P53_HUMAN C275W Disease P53_HUMAN C275Y Disease P53_HUMAN C141F Disease P53_HUMAN C141G Disease P53_HUMAN W53C Disease P53_HUMAN I195T Disease P53_HUMAN Q144P Disease P53_HUMAN G245S Disease P53_HUMAN Q136K Disease P53_HUMAN G334V Disease P53_HUMAN F113C Disease P53_HUMAN E258D Disease P53_HUMAN Y220H Disease P53_HUMAN R283H Disease P53_HUMAN S127F Disease P53_HUMAN T170M Disease P53_HUMAN G325V Disease P53_HUMAN H168R Disease P53_HUMAN R283C Disease P53_HUMAN S94T Disease P53_HUMAN R248W Disease P53_HUMAN R283G Disease P53_HUMAN T170S Disease P53_HUMAN R283P Disease P53_HUMAN I251N Disease P53_HUMAN E198K Disease P53_HUMAN L43S Disease P53_HUMAN V173L Disease P53_HUMAN V173M Disease P53_HUMAN K132Q Disease P53_HUMAN P152S Disease P53_HUMAN L130R Disease P53_HUMAN R110C Disease P53_HUMAN M237I Disease P53_HUMAN K132M Disease P53_HUMAN D7H Disease P53_HUMAN Y205D Disease P53_HUMAN A129D Disease P53_HUMAN E286A Disease P53_HUMAN V274F Disease P53_HUMAN E285Q Disease P53_HUMAN N247I Disease P53_HUMAN M160I Disease P53_HUMAN I254T Disease P53_HUMAN D186Y Disease P53_HUMAN R337C Disease P53_HUMAN I254N Disease P53_HUMAN P190L Disease P53_HUMAN T284A Disease P53_HUMAN V143A Disease P53_HUMAN S240I Disease P53_HUMAN S149P Disease P53_HUMAN M169I Disease P53_HUMAN R248Q Disease P53_HUMAN K164Q Disease P53_HUMAN P151T Disease P53_HUMAN P151S Disease P53_HUMAN R248G Disease P53_HUMAN R248L Disease P53_HUMAN R174H Disease P53_HUMAN H296P Disease P53_HUMAN P151A Disease P53_HUMAN M169T Disease P53_HUMAN N131K Disease P53_HUMAN M246R Disease P53_HUMAN N131S Disease P53_HUMAN M246T Disease P53_HUMAN M246V Disease P53_HUMAN Y234H Disease P53_HUMAN P87Q Disease P53_HUMAN Y220C Disease P53_HUMAN A161S Disease P53_HUMAN D281A Disease P53_HUMAN D281E Disease P53_HUMAN P47S Polymorphism P53_HUMAN G187C Disease P53_HUMAN D281H Disease P53_HUMAN S241F Disease P53_HUMAN L137Q Disease P53_HUMAN G154V Disease P53_HUMAN T284P Disease P53_HUMAN D281V Disease P53_HUMAN G187S Disease P53_HUMAN Y126D Disease P53_HUMAN V173E Disease P53_HUMAN R280I Disease P53_HUMAN E339K Polymorphism P53_HUMAN K164N Disease P53_HUMAN L252P Disease P53_HUMAN A307T Disease P53_HUMAN R280T Disease P53_HUMAN K139N Disease P53_HUMAN P309S Disease P53_HUMAN C238Y Disease P53_HUMAN L145Q Disease P53_HUMAN G302E Disease P53_HUMAN R181L Disease P53_HUMAN S366A Polymorphism P53_HUMAN C135F Disease P53_HUMAN M133T Disease P53_HUMAN C242F Disease P53_HUMAN V216M Disease P53_HUMAN C238F Disease P53_HUMAN C135S Disease P53_HUMAN G279E Disease P53_HUMAN R110P Disease P53_HUMAN R158H Disease P53_HUMAN R158G Disease P53_HUMAN L194P Disease P53_HUMAN P191T Disease P53_HUMAN R158C Disease P53_HUMAN E286D Disease P53_HUMAN V147D Disease P53_HUMAN V147G Disease P53_HUMAN E286G Disease P53_HUMAN V157I Disease P53_HUMAN P152L Disease P53_HUMAN V157D Disease P53_HUMAN V157F Disease P53_HUMAN R110L Disease P53_HUMAN E286K Disease P53_HUMAN D228E Disease P53_HUMAN A138P Disease P53_HUMAN R249S Disease P53_HUMAN Y220S Disease P53_HUMAN R175P Disease P53_HUMAN S166L Disease P53_HUMAN R175L Disease P53_HUMAN R249G Disease P53_HUMAN R175H Disease P53_HUMAN R306Q Disease P53_HUMAN L145P Disease P53_HUMAN Q192R Disease P53_HUMAN R175G Disease P53_HUMAN R280K Disease P53_HUMAN R175C Disease SNAG_HUMAN K281N Polymorphism S22A3_HUMAN T44M Polymorphism S22A3_HUMAN A116S Polymorphism RBCC1_HUMAN T234M Polymorphism HPS5_HUMAN L417M Polymorphism ERG7_HUMAN L642V Polymorphism NOC3L_HUMAN E472A Polymorphism NOC3L_HUMAN P194L Polymorphism PPOX_HUMAN R152C Disease PPOX_HUMAN R59W Disease PPOX_HUMAN R168C Polymorphism PPOX_HUMAN R304H Polymorphism PPOX_HUMAN G232R Disease SN1L1_HUMAN A615V Polymorphism CT051_HUMAN A32V Polymorphism EMID1_HUMAN A107G Polymorphism I17RD_HUMAN M255T Polymorphism I17RD_HUMAN V301M Polymorphism S28A1_HUMAN I189V Polymorphism S28A1_HUMAN E34G Polymorphism S28A1_HUMAN N521D Polymorphism S28A1_HUMAN N409S Polymorphism LIFR_HUMAN I633M Polymorphism K1434_HUMAN T273I Polymorphism PSCA_HUMAN E39K Polymorphism ECEL1_HUMAN H10Q Polymorphism ECEL1_HUMAN Y328H Polymorphism LAP2A_HUMAN Q598E Polymorphism ABCG5_HUMAN E146Q Disease ABCG5_HUMAN R419P Disease ABCG5_HUMAN I523V Polymorphism ABCG5_HUMAN R389H Disease ABCG5_HUMAN N437K Disease ABCG5_HUMAN C600Y Polymorphism ABCG5_HUMAN R419H Disease ABCG5_HUMAN R550S Disease ABCG5_HUMAN Q604E Polymorphism ABCG5_HUMAN M622V Polymorphism PEO1_HUMAN R374Q Disease PEO1_HUMAN K319E Disease PEO1_HUMAN I367T Disease PEO1_HUMAN L381P Disease PEO1_HUMAN V368I Disease PEO1_HUMAN W315L Disease PEO1_HUMAN W474C Disease PEO1_HUMAN A359T Disease PEO1_HUMAN K319T Disease PEO1_HUMAN S369P Disease PEO1_HUMAN P335L Disease PEO1_HUMAN R354P Disease PEO1_HUMAN A475P Disease PEO1_HUMAN S369Y Disease TS1R2_HUMAN A574T Polymorphism LRP5_HUMAN A242T Disease LRP5_HUMAN T253I Disease LRP5_HUMAN A214T Disease LRP5_HUMAN A1330V Polymorphism LRP5_HUMAN R570Q Disease LRP5_HUMAN G171R Disease LRP5_HUMAN R570W Disease LRP5_HUMAN C1361G Disease LRP5_HUMAN R494Q Disease LRP5_HUMAN V667M Polymorphism LRP5_HUMAN D111Y Disease LRP5_HUMAN R752C Disease LRP5_HUMAN G171V Disease LRP5_HUMAN A1525V Polymorphism LRP5_HUMAN E1367K Disease LRP5_HUMAN Q89R Polymorphism KR123_HUMAN R17H Polymorphism ATNG_HUMAN G41R Disease GIDRP_HUMAN H566R Polymorphism GIDRP_HUMAN H656R Polymorphism IBP5_HUMAN R138W Polymorphism HPSE2_HUMAN F579Y Polymorphism PEX10_HUMAN H290Q Disease MKL1_HUMAN S648G Polymorphism TF3A_HUMAN V303L Polymorphism DERL1_HUMAN I171V Polymorphism GP1BA_HUMAN A172V Disease GP1BA_HUMAN C225S Disease GP1BA_HUMAN A254S Polymorphism GP1BA_HUMAN L145P Disease GP1BA_HUMAN T161M Polymorphism GP1BA_HUMAN C81R Disease GP1BA_HUMAN L86F Polymorphism GP1BA_HUMAN L73F Disease GP1BA_HUMAN R72H Polymorphism RASA1_HUMAN I401V Disease RASA1_HUMAN C540Y Disease RASA1_HUMAN K400G Disease RASA1_HUMAN R398L Disease SN_HUMAN H919P Polymorphism SN_HUMAN K239R Polymorphism SN_HUMAN A974V Polymorphism SN_HUMAN A1519P Polymorphism SN_HUMAN S1335Y Polymorphism CSRP3_HUMAN W4R Disease ACHB_HUMAN L285M Disease ACHB_HUMAN V289M Disease HRG_HUMAN D118G Polymorphism HRG_HUMAN H340R Polymorphism HRG_HUMAN P204S Polymorphism HRG_HUMAN I180T Polymorphism TNAP3_HUMAN A125V Polymorphism TNAP3_HUMAN F127C Polymorphism CPT1B_HUMAN G320D Polymorphism CPT1B_HUMAN S664Y Polymorphism CPT1B_HUMAN E531K Polymorphism CPT1B_HUMAN I66V Polymorphism ROBO3_HUMAN L5P Disease ROBO3_HUMAN S705P Disease ROBO3_HUMAN R703P Disease ROBO3_HUMAN E319K Disease ROBO3_HUMAN G361E Disease ROBO3_HUMAN I66L Disease CP21A_HUMAN K98R Polymorphism CP21A_HUMAN I236N Disease CP21A_HUMAN P105L Disease CP21A_HUMAN R341W Disease CP21A_HUMAN A362V Disease CP21A_HUMAN R341P Disease CP21A_HUMAN N493S Polymorphism CP21A_HUMAN M239K Disease CP21A_HUMAN V237E Disease CP21A_HUMAN R356Q Disease CP21A_HUMAN R356W Disease CP21A_HUMAN P453S Disease CP21A_HUMAN H62L Disease CP21A_HUMAN P30L Disease CP21A_HUMAN G291R Disease CP21A_HUMAN G291S Disease CP21A_HUMAN R339H Disease CP21A_HUMAN S301Y Disease CP21A_HUMAN R356P Disease CP21A_HUMAN C169Y Disease CP21A_HUMAN K102R Polymorphism CP21A_HUMAN R483P Disease CP21A_HUMAN R483Q Disease CP21A_HUMAN V281L Disease CP21A_HUMAN G64E Disease CP21A_HUMAN D183E Polymorphism CP21A_HUMAN S268T Polymorphism CP21A_HUMAN I172N Disease CP21A_HUMAN E380D Disease UDB15_HUMAN D85Y Polymorphism UDB15_HUMAN T523K Polymorphism UTER_HUMAN R56G Polymorphism UTER_HUMAN T68A Polymorphism DSCAM_HUMAN D232E Polymorphism GLPT_HUMAN I414V Polymorphism GLPT_HUMAN D247N Polymorphism ODPA_HUMAN R302H Disease ODPA_HUMAN R288H Disease ODPA_HUMAN G162R Disease ODPA_HUMAN V167M Disease ODPA_HUMAN H113D Disease ODPA_HUMAN Y243N Disease ODPA_HUMAN H292L Disease ODPA_HUMAN T231A Disease ODPA_HUMAN R302C Disease ODPA_HUMAN A199T Disease ODPA_HUMAN R263Q Disease ODPA_HUMAN R72C Disease ODPA_HUMAN R263G Disease ODPA_HUMAN D315N Disease ODPA_HUMAN R10P Disease ODPA_HUMAN M282L Polymorphism ODPA_HUMAN M210V Disease ODPA_HUMAN P217L Disease PE2R1_HUMAN A71T Polymorphism HEM6_HUMAN N272H Polymorphism HEM6_HUMAN H295D Disease HEM6_HUMAN E201K Disease HEM6_HUMAN K404E Disease HEM6_HUMAN R447C Disease HEM6_HUMAN V294I Polymorphism HEM6_HUMAN G197W Disease HEM6_HUMAN R328C Disease HEM6_HUMAN S208F Disease HEM6_HUMAN L214R Disease HEM6_HUMAN G280R Disease HEM6_HUMAN W427R Disease HEM6_HUMAN G189S Disease HEM6_HUMAN P249R Disease HEM6_HUMAN P249S Disease HEM6_HUMAN R331W Disease HEM6_HUMAN V135A Disease IL11_HUMAN V108M Polymorphism IL11_HUMAN R112H Polymorphism JUNB_HUMAN L230V Polymorphism ZBT10_HUMAN I174M Polymorphism ZBT10_HUMAN T50P Polymorphism PLXD1_HUMAN M870V Polymorphism MCR_HUMAN N554S Polymorphism MCR_HUMAN N444T Polymorphism MCR_HUMAN L924P Disease MCR_HUMAN I180V Polymorphism MCR_HUMAN R537Q Polymorphism BT3A1_HUMAN S224N Polymorphism PTGIS_HUMAN R379S Polymorphism PTGIS_HUMAN R236C Polymorphism PTGIS_HUMAN F171L Polymorphism PTGIS_HUMAN E154A Polymorphism PTGIS_HUMAN P500S Polymorphism PTGIS_HUMAN P38L Polymorphism PTGIS_HUMAN S118R Polymorphism PLK3_HUMAN L68F Polymorphism PLK3_HUMAN S498L Polymorphism PLK3_HUMAN S618P Polymorphism PLK3_HUMAN L283F Polymorphism PLK3_HUMAN T61S Polymorphism PLK3_HUMAN R483C Polymorphism USH1C_HUMAN D519E Polymorphism BFL1_HUMAN N39K Polymorphism BFL1_HUMAN C19Y Polymorphism BFL1_HUMAN G82D Polymorphism EFHC1_HUMAN F229L Disease EFHC1_HUMAN D253Y Disease EFHC1_HUMAN R221H Disease EFHC1_HUMAN R182H Disease EFHC1_HUMAN P77T Disease EFHC1_HUMAN D210N Disease ETFA_HUMAN V157G Disease ETFA_HUMAN G116R Disease ETFA_HUMAN T266M Disease ETFA_HUMAN T171I Polymorphism HMOX1_HUMAN D7H Polymorphism HMOX1_HUMAN P106L Polymorphism GALGT_HUMAN L35V Polymorphism GALGT_HUMAN G172R Polymorphism HXC13_HUMAN S50I Polymorphism HNF1B_HUMAN G492S Polymorphism HNF1B_HUMAN S465R Disease PSD9_HUMAN A17V Polymorphism GPX4_HUMAN S2N Polymorphism GPX4_HUMAN A120T Disease TBCC_HUMAN P169S Polymorphism AT1A2_HUMAN M731T Disease AT1A2_HUMAN R689Q Disease AT1A2_HUMAN T378N Disease AT1A2_HUMAN L764P Disease AT1A2_HUMAN W887R Disease RPGR1_HUMAN G746E Disease RPGR1_HUMAN K192E Polymorphism RPGR1_HUMAN Q1033E Polymorphism RPGR1_HUMAN A547S Disease RPGR1_HUMAN R827L Disease RPGR1_HUMAN D1114G Disease RPGR1_HUMAN S601L Polymorphism RPF1_HUMAN S9G Polymorphism ACES_HUMAN V333E Polymorphism ACES_HUMAN P135A Polymorphism ACES_HUMAN R34Q Polymorphism ACES_HUMAN H353N Polymorphism CART_HUMAN S66T Polymorphism PHS2_HUMAN E654K Disease PHS2_HUMAN G685R Disease PHS2_HUMAN E348K Disease PHS2_HUMAN G204S Disease PHS2_HUMAN L115P Disease PHS2_HUMAN N684Y Disease PHS2_HUMAN T487N Disease PHS2_HUMAN K542T Disease PHS2_HUMAN R601W Disease PHS2_HUMAN L396P Disease PHS2_HUMAN A659D Disease PHS2_HUMAN L291P Disease PHS2_HUMAN A703V Disease PHS2_HUMAN R193W Disease PHS2_HUMAN W797R Disease PHS2_HUMAN Q665E Disease PHS2_HUMAN A686P Disease PHS3_HUMAN D501N Polymorphism GA6S_HUMAN P179L Disease GA6S_HUMAN L395P Disease GA6S_HUMAN A351V Disease GA6S_HUMAN M318R Disease GA6S_HUMAN S135R Disease GA6S_HUMAN W141R Disease GA6S_HUMAN R376Q Disease GA6S_HUMAN M494V Disease GA6S_HUMAN W230G Disease GA6S_HUMAN M343R Disease GA6S_HUMAN I113F Disease GA6S_HUMAN N204K Disease GA6S_HUMAN E185G Disease GA6S_HUMAN D60N Disease GA6S_HUMAN G247D Disease GA6S_HUMAN A257T Disease GA6S_HUMAN F156C Disease GA6S_HUMAN F156S Disease GA6S_HUMAN G290S Disease GA6S_HUMAN E450V Disease GA6S_HUMAN M391V Disease GA6S_HUMAN V488M Polymorphism GA6S_HUMAN Q111R Disease GA6S_HUMAN A291D Disease GA6S_HUMAN G155R Disease GA6S_HUMAN P151S Disease GA6S_HUMAN P151L Disease GA6S_HUMAN A231G Polymorphism GA6S_HUMAN S295F Disease GA6S_HUMAN F284V Disease GA6S_HUMAN A291T Disease GA6S_HUMAN S287L Disease GA6S_HUMAN A459V Polymorphism GA6S_HUMAN R90W Disease GA6S_HUMAN D344N Disease GA6S_HUMAN R94G Disease GA6S_HUMAN R361G Disease GA6S_HUMAN L67M Disease GA6S_HUMAN R94C Disease GA6S_HUMAN D344E Disease GA6S_HUMAN A393S Polymorphism GA6S_HUMAN L395V Disease GA6S_HUMAN G96C Disease GA6S_HUMAN N407H Disease GA6S_HUMAN P125L Disease GA6S_HUMAN G96V Disease GA6S_HUMAN G139S Disease GA6S_HUMAN F346L Disease GA6S_HUMAN R259Q Disease GA6S_HUMAN G301C Disease GA6S_HUMAN T312S Disease GA6S_HUMAN N487S Disease GA6S_HUMAN W409S Disease GA6S_HUMAN S80L Disease GA6S_HUMAN P179H Disease GA6S_HUMAN G47R Disease GA6S_HUMAN H166Q Disease GA6S_HUMAN F97V Disease GA6S_HUMAN T200M Polymorphism GA6S_HUMAN G168R Disease GA6S_HUMAN V138A Disease GA6S_HUMAN I178V Polymorphism GA6S_HUMAN P77R Disease GA6S_HUMAN G309R Disease GA6S_HUMAN R386C Disease DHX35_HUMAN P703L Polymorphism GPS2_HUMAN T306A Polymorphism DHC24_HUMAN Y471S Disease DHC24_HUMAN N294T Disease DHC24_HUMAN E191K Disease DHC24_HUMAN K306N Disease SPG3A_HUMAN A161P Disease SPG3A_HUMAN R239C Disease SPG3A_HUMAN H247P Disease SPG3A_HUMAN S259Y Disease SPG3A_HUMAN R217Q Disease SPG3A_HUMAN H258R Disease SNTA1_HUMAN L364F Polymorphism PTPRR_HUMAN R314K Polymorphism PLK4_HUMAN T232S Polymorphism MYO6_HUMAN C442Y Disease MYO6_HUMAN E216V Disease CLCKB_HUMAN Y432H Disease CLCKB_HUMAN A204T Disease CLCKB_HUMAN S88R Polymorphism CLCKB_HUMAN R438C Disease CLCKB_HUMAN V334L Polymorphism CLCKB_HUMAN T562M Polymorphism CLCKB_HUMAN N143H Polymorphism CLCKB_HUMAN P124L Disease CLCKB_HUMAN A349D Disease CLCKA_HUMAN R83G Polymorphism CLCKA_HUMAN Y315F Polymorphism CLCKA_HUMAN A447T Polymorphism IDH3B_HUMAN V3A Polymorphism ATTY_HUMAN G362V Disease PDLI5_HUMAN S135F Polymorphism RAD50_HUMAN K973M Polymorphism RAD50_HUMAN R1038G Polymorphism RAD50_HUMAN V697A Polymorphism RAD50_HUMAN T191I Polymorphism RAD50_HUMAN Y964H Polymorphism RAD50_HUMAN K616E Polymorphism JMJ2C_HUMAN D396N Polymorphism DYH5_HUMAN G24E Polymorphism DYH5_HUMAN A4134V Polymorphism DYH5_HUMAN Q2463R Polymorphism DYH5_HUMAN G3519R Disease DYH5_HUMAN I4450V Polymorphism DYH5_HUMAN T558A Polymorphism DYH5_HUMAN H12Q Polymorphism DYH5_HUMAN L2862F Polymorphism DYH5_HUMAN T4220A Polymorphism NCF1_HUMAN R90H Polymorphism NCF1_HUMAN G262S Polymorphism NCF1_HUMAN S99G Polymorphism NCF1_HUMAN R42Q Disease NCF1_HUMAN K258E Polymorphism NCF1_HUMAN D166N Polymorphism NCF1_HUMAN A308V Polymorphism NCF1_HUMAN T160S Polymorphism GUC1A_HUMAN E154G Disease GUC1A_HUMAN Y98C Disease GUC1A_HUMAN P49L Disease TP53B_HUMAN V1026A Polymorphism TP53B_HUMAN D353E Polymorphism TP53B_HUMAN A1170G Polymorphism TP53B_HUMAN K1136Q Polymorphism TP53B_HUMAN Q699R Polymorphism TP53B_HUMAN E1014G Polymorphism TP53B_HUMAN M648V Polymorphism TP53B_HUMAN G412S Polymorphism TP53B_HUMAN I1174V Polymorphism CF047_HUMAN R68G Polymorphism IRK1_HUMAN W99C Disease IRK1_HUMAN P110L Disease IRK1_HUMAN A214V Disease IRK1_HUMAN V72E Disease IRK1_HUMAN D108H Disease IRK1_HUMAN G167E Disease IRK1_HUMAN S219R Disease IRK1_HUMAN A198T Disease IRK1_HUMAN D74Y Disease IRK1_HUMAN M357T Disease IRK1_HUMAN N124K Disease IRK1_HUMAN V122E Disease IRK1_HUMAN V315G Disease F10C1_HUMAN H16R Polymorphism F10C1_HUMAN R78T Polymorphism ENAM_HUMAN P724L Polymorphism TRIM9_HUMAN L653F Polymorphism IKAP_HUMAN R696P Disease KCNQ3_HUMAN G310V Disease KCNQ3_HUMAN W309R Disease LYAR_HUMAN H265R Polymorphism LYAR_HUMAN D151Y Polymorphism FGF14_HUMAN F145S Disease FGF14_HUMAN G42C Polymorphism ZO2_HUMAN V48A Disease MOS1A_HUMAN R73W Disease MOS1A_HUMAN G324E Disease MOS1A_HUMAN G126D Disease MOS1A_HUMAN G127D Disease MOS1A_HUMAN R319Q Disease OR2H1_HUMAN D63N Polymorphism OR2H2_HUMAN F30I Polymorphism OR2H2_HUMAN T220A Polymorphism OR2H2_HUMAN A48V Polymorphism OR2H2_HUMAN F30S Polymorphism GPR35_HUMAN A25T Polymorphism GPR35_HUMAN S294R Polymorphism GPR35_HUMAN R125S Polymorphism GPR35_HUMAN T253M Polymorphism GPR35_HUMAN V29I Polymorphism GPR35_HUMAN T108M Polymorphism GLPB_HUMAN T48M Polymorphism PARP4_HUMAN G1265A Polymorphism PARP4_HUMAN G1280R Polymorphism PAPS1_HUMAN S587L Polymorphism PAPS1_HUMAN L270F Polymorphism TR10A_HUMAN E228A Polymorphism TR10A_HUMAN H141R Polymorphism TR10A_HUMAN R209T Polymorphism TR10A_HUMAN T33I Polymorphism CT165_HUMAN P94L Polymorphism PAI1_HUMAN A15T Polymorphism PAI1_HUMAN R209H Polymorphism PAI1_HUMAN T255N Polymorphism PAI1_HUMAN H25P Polymorphism PAI1_HUMAN V17I Polymorphism TSN7_HUMAN P172H Disease SYWM_HUMAN A267P Polymorphism MTRR_HUMAN G514R Disease MTRR_HUMAN L360V Polymorphism MTRR_HUMAN A156T Disease MTRR_HUMAN C432R Disease MTRR_HUMAN H622Y Polymorphism MTRR_HUMAN I49M Polymorphism MTRR_HUMAN G581R Disease MTRR_HUMAN V83M Disease GBRP_HUMAN F391L Polymorphism GLT15_HUMAN R124C Polymorphism FSHR_HUMAN T307A Polymorphism FSHR_HUMAN F591S Disease FSHR_HUMAN A189V Disease FSHR_HUMAN D567N Disease FSHR_HUMAN R573C Disease FSHR_HUMAN I418T Disease FSHR_HUMAN I160T Disease FSHR_HUMAN T449I Disease FSHR_HUMAN N680S Polymorphism FSHR_HUMAN S524R Polymorphism TRPV6_HUMAN M378V Polymorphism TRPV6_HUMAN M681T Polymorphism TRPV6_HUMAN C157R Polymorphism ARSA_HUMAN N350S Polymorphism ARSA_HUMAN E382K Disease ARSA_HUMAN C300F Disease ARSA_HUMAN C172Y Disease ARSA_HUMAN K367N Disease ARSA_HUMAN A224V Disease ARSA_HUMAN R370W Disease ARSA_HUMAN P377L Disease ARSA_HUMAN R370Q Disease ARSA_HUMAN G119R Disease ARSA_HUMAN A212V Disease ARSA_HUMAN T274M Disease ARSA_HUMAN D169N Disease ARSA_HUMAN L135P Disease ARSA_HUMAN R244C Disease ARSA_HUMAN S295Y Disease ARSA_HUMAN R496H Polymorphism ARSA_HUMAN P426L Disease ARSA_HUMAN G122S Disease ARSA_HUMAN I179S Disease ARSA_HUMAN T391S Polymorphism ARSA_HUMAN A464V Polymorphism ARSA_HUMAN G245R Disease ARSA_HUMAN G99D Disease ARSA_HUMAN S250Y Disease ARSA_HUMAN L76P Polymorphism ARSA_HUMAN P136L Disease ARSA_HUMAN R311Q Disease ARSA_HUMAN D152Y Disease ARSA_HUMAN H397Y Disease ARSA_HUMAN D335V Disease ARSA_HUMAN R84Q Disease ARSA_HUMAN W193C Polymorphism ARSA_HUMAN G86D Disease ARSA_HUMAN A314T Disease ARSA_HUMAN R244H Disease ARSA_HUMAN P231T Disease ARSA_HUMAN S96F Disease ARSA_HUMAN R390Q Disease ARSA_HUMAN R390W Disease ARSA_HUMAN Y201C Disease ARSA_HUMAN F356V Polymorphism ARSA_HUMAN G154D Disease ARSA_HUMAN S96L Disease ARSA_HUMAN G309S Disease ARSA_HUMAN P155R Disease ARSA_HUMAN P167R Disease ARSA_HUMAN R384C Disease ARSA_HUMAN P82L Disease ARSA_HUMAN N440S Polymorphism ARSA_HUMAN P425T Disease ARSA_HUMAN R288C Disease ARSA_HUMAN S95N Disease G6PI_HUMAN A299P Disease G6PI_HUMAN R272H Disease G6PI_HUMAN I524T Disease G6PI_HUMAN T194I Disease G6PI_HUMAN L486F Disease G6PI_HUMAN E494K Disease G6PI_HUMAN H19P Disease G6PI_HUMAN S277L Disease G6PI_HUMAN D538N Disease G6PI_HUMAN L338P Disease G6PI_HUMAN R74G Disease G6PI_HUMAN R471H Disease G6PI_HUMAN T223M Disease G6PI_HUMAN L516V Disease G6PI_HUMAN G158S Disease G6PI_HUMAN R346C Disease G6PI_HUMAN T374R Disease G6PI_HUMAN R346H Disease G6PI_HUMAN R82W Disease G6PI_HUMAN Q342R Disease G6PI_HUMAN V100M Disease G6PI_HUMAN T4I Disease G6PI_HUMAN H388R Disease G6PI_HUMAN I207T Polymorphism LBN_HUMAN T699A Polymorphism LBN_HUMAN I283R Disease LBN_HUMAN R950W Disease FANCM_HUMAN V878L Polymorphism FANCM_HUMAN P1812A Polymorphism FANCM_HUMAN S175F Polymorphism MMS19_HUMAN A558V Polymorphism MMS19_HUMAN G790D Polymorphism MMS19_HUMAN R983H Polymorphism MMS19_HUMAN Q409P Polymorphism MMS19_HUMAN R306H Polymorphism MMS19_HUMAN Q434E Polymorphism MMS19_HUMAN M365V Polymorphism MMS19_HUMAN R98W Polymorphism MMS19_HUMAN V526I Polymorphism MMS19_HUMAN G68A Polymorphism MMS19_HUMAN V197I Polymorphism S5A2_HUMAN A228T Disease S5A2_HUMAN E200K Disease S5A2_HUMAN S245Y Disease S5A2_HUMAN E197D Disease S5A2_HUMAN A49T Polymorphism S5A2_HUMAN G115D Disease S5A2_HUMAN R246W Disease S5A2_HUMAN L55Q Disease S5A2_HUMAN G196S Disease S5A2_HUMAN R246Q Disease S5A2_HUMAN V89L Polymorphism S5A2_HUMAN P212R Disease S5A2_HUMAN H231R Disease S5A2_HUMAN G85D Disease S5A2_HUMAN L113V Polymorphism S5A2_HUMAN G183S Disease EP15_HUMAN I822M Polymorphism SDC4_HUMAN F12L Polymorphism INAR2_HUMAN F10V Polymorphism INAR2_HUMAN I196V Polymorphism INAR2_HUMAN F8S Polymorphism ST17A_HUMAN E362K Polymorphism EPHB6_HUMAN P267R Polymorphism EPHB6_HUMAN S309A Polymorphism EPHB6_HUMAN R484Q Polymorphism EPHB6_HUMAN G107S Polymorphism TDP2_HUMAN I64T Polymorphism TDP2_HUMAN P81S Polymorphism BTK_HUMAN Y475D Disease BTK_HUMAN A507D Disease BTK_HUMAN S13F Disease BTK_HUMAN R306T Disease BTK_HUMAN V63D Disease BTK_HUMAN V63F Disease BTK_HUMAN N364Y Disease BTK_HUMAN E588D Disease BTK_HUMAN S591P Disease BTK_HUMAN G593E Disease BTK_HUMAN S114F Disease BTK_HUMAN A606D Disease BTK_HUMAN Q126H Disease BTK_HUMAN C505Y Disease BTK_HUMAN C505R Disease BTK_HUMAN F558S Disease BTK_HUMAN G593R Disease BTK_HUMAN M476R Disease BTK_HUMAN R371G Disease BTK_HUMAN W580R Disease BTK_HUMAN C632Y Disease BTK_HUMAN H363P Disease BTK_HUMAN L294P Disease BTK_HUMAN V534F Disease BTK_HUMAN V625G Disease BTK_HUMAN I369M Disease BTK_HUMAN L541P Disease BTK_HUMAN R640C Disease BTK_HUMAN C154G Disease BTK_HUMAN I428N Disease BTK_HUMAN R640H Disease BTK_HUMAN E588K Disease BTK_HUMAN F582S Disease BTK_HUMAN E588G Disease BTK_HUMAN G612D Disease BTK_HUMAN R519Q Disease BTK_HUMAN D520G Disease BTK_HUMAN L357F Disease BTK_HUMAN D520N Disease BTK_HUMAN D520H Disease BTK_HUMAN W562L Disease BTK_HUMAN R524G Disease BTK_HUMAN R524P Disease BTK_HUMAN R524Q Disease BTK_HUMAN T183P Disease BTK_HUMAN R27P Disease BTK_HUMAN Y38S Disease BTK_HUMAN R27C Disease BTK_HUMAN R27H Disease BTK_HUMAN T116P Disease BTK_HUMAN K11R Disease BTK_HUMAN G413R Disease BTK_HUMAN V318A Disease BTK_HUMAN D307E Disease BTK_HUMAN C501W Disease BTK_HUMAN R561P Disease BTK_HUMAN H361Q Disease BTK_HUMAN M508V Disease BTK_HUMAN L511P Disease BTK_HUMAN L511Q Disease BTK_HUMAN M508I Disease BTK_HUMAN E566K Disease BTK_HUMAN R561W Disease BTK_HUMAN Y417H Disease BTK_HUMAN C153S Disease BTK_HUMAN M629K Disease BTK_HUMAN A522E Disease BTK_HUMAN T32P Disease BTK_HUMAN L10P Disease BTK_HUMAN K18E Disease BTK_HUMAN V112D Disease BTK_HUMAN P618T Disease BTK_HUMAN P618S Disease BTK_HUMAN N525K Disease BTK_HUMAN F643S Disease BTK_HUMAN F24S Disease BTK_HUMAN A581V Disease BTK_HUMAN I60N Disease BTK_HUMAN P618A Disease BTK_HUMAN F643L Disease BTK_HUMAN K26R Disease BTK_HUMAN C154R Disease BTK_HUMAN R543K Disease BTK_HUMAN L517R Disease BTK_HUMAN L646P Disease BTK_HUMAN K429R Disease BTK_HUMAN R543G Disease BTK_HUMAN C501F Disease BTK_HUMAN K429E Disease BTK_HUMAN M586L Disease BTK_HUMAN L407P Disease BTK_HUMAN G461D Disease BTK_HUMAN E444D Disease BTK_HUMAN S577Y Disease BTK_HUMAN Y360C Disease BTK_HUMAN G461V Disease BTK_HUMAN R287W Disease BTK_HUMAN R287Q Disease BTK_HUMAN L368F Disease BTK_HUMAN M629I Polymorphism BTK_HUMAN R306G Disease BTK_HUMAN S365F Disease BTK_HUMAN G301E Disease BTK_HUMAN L651P Disease BTK_HUMAN Y333S Disease BTK_HUMAN G301R Disease BTK_HUMAN Y39C Disease BTK_HUMAN A621P Disease BTK_HUMAN Y39N Disease BTK_HUMAN Y597C Disease BTK_HUMAN M629T Disease TWST1_HUMAN I156V Disease TWST1_HUMAN Q119P Disease TWST1_HUMAN L131P Disease TWST1_HUMAN G84S Polymorphism TWST1_HUMAN S31G Polymorphism CLN5_HUMAN D279N Disease CLN5_HUMAN K368R Polymorphism LEP_HUMAN V110M Polymorphism LEP_HUMAN V94M Polymorphism AN32C_HUMAN E204G Polymorphism AN32C_HUMAN R71K Polymorphism E2F3_HUMAN D389N Polymorphism E2F3_HUMAN G344R Polymorphism CYR61_HUMAN R334W Polymorphism CASP9_HUMAN L106V Polymorphism CASP9_HUMAN S99L Polymorphism CASP9_HUMAN R192C Polymorphism CASP9_HUMAN T102I Polymorphism CASP9_HUMAN G176R Polymorphism CASP9_HUMAN Q221R Polymorphism CASP9_HUMAN R173H Polymorphism CASP9_HUMAN A28V Polymorphism CASP9_HUMAN I185M Polymorphism CASP9_HUMAN E114D Polymorphism BKRB2_HUMAN G354E Polymorphism BKRB2_HUMAN R14C Polymorphism 8ODP_HUMAN M124V Polymorphism NIDO_HUMAN Q669R Polymorphism IPF1_HUMAN Q59L Disease IPF1_HUMAN R197H Disease IPF1_HUMAN C18R Disease IPF1_HUMAN D76N Disease IFNA1_HUMAN A137V Polymorphism SPTA2_HUMAN T1300I Polymorphism CXCR3_HUMAN A363T Polymorphism CXCR3_HUMAN R292Q Polymorphism NUBP1_HUMAN P39A Polymorphism EFNA1_HUMAN D159V Polymorphism LTB4D_HUMAN A27S Polymorphism T2EA_HUMAN P366S Polymorphism PLOD1_HUMAN W446G Disease PLOD1_HUMAN G678R Disease PLOD1_HUMAN H706R Disease PLOD1_HUMAN A667T Disease PLOD1_HUMAN W612C Disease PLOD1_HUMAN A99T Polymorphism APMAP_HUMAN I65V Polymorphism PLTP_HUMAN S124Y Polymorphism PLTP_HUMAN R372H Polymorphism PLTP_HUMAN T487K Polymorphism PLTP_HUMAN R380W Polymorphism PLTP_HUMAN M425I Polymorphism PLTP_HUMAN F444L Polymorphism PLTP_HUMAN R282Q Polymorphism IGHA1_HUMAN E176D Polymorphism IGHA2_HUMAN F279Y Polymorphism IGHA2_HUMAN P93S Polymorphism IGHA2_HUMAN V326I Polymorphism IGHA2_HUMAN P102R Polymorphism IGHA2_HUMAN V335A Polymorphism IGHA2_HUMAN D296E Polymorphism TFPI2_HUMAN V102A Polymorphism MYEOV_HUMAN A159V Polymorphism UCP2_HUMAN R154Q Polymorphism UCP2_HUMAN R76Q Polymorphism UCP2_HUMAN A268G Polymorphism UCP2_HUMAN S282C Polymorphism UCP2_HUMAN A55V Polymorphism LCMT2_HUMAN R141S Polymorphism LCMT2_HUMAN V67L Polymorphism LCMT2_HUMAN C149Y Polymorphism LCMT2_HUMAN T518A Polymorphism ABCA3_HUMAN L1553P Disease ABCA3_HUMAN L101P Disease ABCA3_HUMAN N568D Disease ABCA3_HUMAN Q1591P Disease ENR1_HUMAN L522P Polymorphism ENR1_HUMAN T90I Polymorphism ENR1_HUMAN N481S Polymorphism ENR1_HUMAN Y236C Polymorphism ENR1_HUMAN N569S Polymorphism ENR1_HUMAN C192Y Polymorphism TPIS_HUMAN V231M Disease TPIS_HUMAN F240L Disease TPIS_HUMAN C41Y Disease TPIS_HUMAN I170V Disease TPIS_HUMAN V154M Disease TPIS_HUMAN G72A Disease TPIS_HUMAN E104D Disease TIM8A_HUMAN C66W Disease CATZ_HUMAN P36S Polymorphism KERA_HUMAN T215K Disease KERA_HUMAN V235G Polymorphism KERA_HUMAN N247S Disease NLK_HUMAN V165A Polymorphism TNFL9_HUMAN P17A Polymorphism RAPSN_HUMAN L13P Disease RAPSN_HUMAN N87K Disease SOX18_HUMAN W95R Disease SOX18_HUMAN A104P Disease CGHB_HUMAN T35I Polymorphism CGHB_HUMAN N97D Polymorphism CGHB_HUMAN R28W Polymorphism CGHB_HUMAN R30H Polymorphism CGHB_HUMAN D137A Polymorphism CGHB_HUMAN K22R Polymorphism CGHB_HUMAN T18A Polymorphism CGHB_HUMAN F4L Polymorphism CGHB_HUMAN S147C Polymorphism HEP2_HUMAN R208H Disease HEP2_HUMAN H60P Polymorphism HEP2_HUMAN A7T Polymorphism HEP2_HUMAN K237R Polymorphism HEP2_HUMAN T442M Polymorphism WWOX_HUMAN P98L Polymorphism WWOX_HUMAN L272F Polymorphism WWOX_HUMAN R314H Disease WWOX_HUMAN T111S Disease WWOX_HUMAN L291P Disease WWOX_HUMAN P282A Polymorphism WWOX_HUMAN R120W Disease WWOX_HUMAN A179T Polymorphism KPB1_HUMAN D299V Disease RAD54_HUMAN G325R Disease RAD54_HUMAN V444E Disease RAD54_HUMAN K151E Polymorphism RAD54_HUMAN P63H Disease CASP6_HUMAN A109T Polymorphism CASP6_HUMAN T182S Polymorphism MCLN1_HUMAN F465L Disease MCLN1_HUMAN L106P Disease MCLN1_HUMAN D362Y Disease MCLN1_HUMAN V446L Disease MCLN1_HUMAN L447P Disease MCLN1_HUMAN T232P Disease LIRA3_HUMAN L107R Polymorphism LIRA3_HUMAN S3P Polymorphism LIRA3_HUMAN Y301H Polymorphism ODB2_HUMAN G384S Disease ODB2_HUMAN I98M Disease ODB2_HUMAN F276C Disease ACTHR_HUMAN R128C Disease ACTHR_HUMAN P27R Polymorphism ACTHR_HUMAN Y254C Disease ACTHR_HUMAN D107N Disease ACTHR_HUMAN R137W Disease ACTHR_HUMAN R146H Disease ACTHR_HUMAN C251F Disease ACTHR_HUMAN S74I Disease ACTHR_HUMAN D103N Disease ACTHR_HUMAN S120R Disease TMEDA_HUMAN S64Y Polymorphism DIRC1_HUMAN S51A Polymorphism S13A1_HUMAN N174S Polymorphism MCCC2_HUMAN R155Q Disease MCCC2_HUMAN E99Q Disease MCCC2_HUMAN R268T Disease MCCC2_HUMAN A218T Disease MCCC2_HUMAN C167R Disease MCCC2_HUMAN R193C Disease MCCC2_HUMAN I437V Disease MCCC2_HUMAN V339M Disease MCCC2_HUMAN S173L Disease MCCC2_HUMAN P310R Disease NUIM_HUMAN R102H Disease NUIM_HUMAN P79L Disease MLL2_HUMAN R4949H Polymorphism I12R1_HUMAN P47S Polymorphism I12R1_HUMAN R156H Polymorphism I12R1_HUMAN M365T Polymorphism I12R1_HUMAN Q214R Polymorphism I12R1_HUMAN G378R Polymorphism I12R1_HUMAN H339Q Polymorphism I12R1_HUMAN P3Q Polymorphism I12R1_HUMAN R213W Disease SPTB1_HUMAN A2052P Disease SPTB1_HUMAN D1150N Polymorphism SPTB1_HUMAN W2023R Disease SPTB1_HUMAN L2024R Disease SPTB1_HUMAN S2018P Disease SPTB1_HUMAN H1373R Polymorphism SPTB1_HUMAN R1402Q Polymorphism SPTB1_HUMAN A2022V Disease SPTB1_HUMAN A2017G Disease SPTB1_HUMAN N438S Polymorphism PHF14_HUMAN R115K Polymorphism LYOX_HUMAN R158Q Polymorphism RAB7_HUMAN L129F Disease RAB7_HUMAN V162M Disease GPX3_HUMAN F128L Polymorphism MRP1_HUMAN C43S Polymorphism MRP1_HUMAN R633Q Polymorphism MRP1_HUMAN R433S Polymorphism MRP1_HUMAN R723Q Polymorphism MRP1_HUMAN R1058Q Polymorphism MRP1_HUMAN T117M Polymorphism MRP1_HUMAN S1512L Polymorphism MRP1_HUMAN T73I Polymorphism TNFB_HUMAN T60N Polymorphism TNFB_HUMAN T125P Polymorphism TNFB_HUMAN H51P Polymorphism TNFB_HUMAN C13R Polymorphism FOXH1_HUMAN T125S Polymorphism FOXH1_HUMAN S113T Polymorphism CASL_HUMAN T577M Polymorphism USH1G_HUMAN L48P Disease NTR1_HUMAN V304I Polymorphism TPM3_HUMAN M8R Disease FOLR1_HUMAN W160C Polymorphism CLC10_HUMAN C35R Polymorphism ANGI_HUMAN K84E Polymorphism SPIT2_HUMAN V200L Polymorphism IVD_HUMAN G199V Disease IVD_HUMAN A311V Disease IVD_HUMAN D69N Disease IVD_HUMAN C357R Disease IVD_HUMAN L42P Disease IVD_HUMAN V371A Disease IVD_HUMAN R411L Disease IVD_HUMAN R392C Disease IVD_HUMAN R50P Disease RS30_HUMAN V19M Polymorphism MOT5_HUMAN N264H Polymorphism EGFL8_HUMAN R86K Polymorphism EGFL8_HUMAN A204E Polymorphism SCRG1_HUMAN P42L Polymorphism SERC3_HUMAN T437A Polymorphism TENX_HUMAN E2578G Polymorphism TENX_HUMAN G2555S Polymorphism TENX_HUMAN P2363H Polymorphism TENX_HUMAN R511H Polymorphism PSG2_HUMAN V20L Polymorphism ZAP70_HUMAN R465H Disease ZAP70_HUMAN S518R Disease NSF1C_HUMAN D290N Polymorphism PRP16_HUMAN A1217T Polymorphism KI2L4_HUMAN A209P Polymorphism KI2L4_HUMAN T138A Polymorphism KI2L4_HUMAN D271N Polymorphism KI2L4_HUMAN H371N Polymorphism KI2L4_HUMAN L87V Polymorphism KI2L4_HUMAN Y53C Polymorphism TOPK_HUMAN N107S Polymorphism RAC2_HUMAN D57N Disease RAC1_HUMAN F28L Polymorphism RAC1_HUMAN A59T Polymorphism RAC1_HUMAN V93G Polymorphism RAC1_HUMAN V93I Polymorphism RAC1_HUMAN K133E Polymorphism RAC1_HUMAN V182E Polymorphism RAC1_HUMAN D63G Polymorphism RAC1_HUMAN P180S Polymorphism RAC1_HUMAN N26D Polymorphism RAC1_HUMAN T108I Polymorphism RAC1_HUMAN K130R Polymorphism ARGI1_HUMAN G235R Disease ARGI1_HUMAN G138V Disease ARGI1_HUMAN I11T Disease ARGI1_HUMAN T290S Polymorphism CG1_HUMAN N589S Polymorphism RBM13_HUMAN Q277R Polymorphism CN159_HUMAN R10C Polymorphism CN159_HUMAN D502N Polymorphism SGCB_HUMAN R91P Disease SGCB_HUMAN T151R Disease SGCB_HUMAN L108R Disease SGCB_HUMAN R91L Disease SGCB_HUMAN R91C Disease SGCB_HUMAN M100K Disease SGCB_HUMAN G167S Disease SGCB_HUMAN I119F Disease SCG1_HUMAN R417H Polymorphism SCG1_HUMAN R178Q Polymorphism DUS5_HUMAN E154D Polymorphism PERF_HUMAN I224N Disease PERF_HUMAN P345L Disease PERF_HUMAN V183G Disease PERF_HUMAN V50M Disease PERF_HUMAN N252S Disease PERF_HUMAN R225W Disease PERF_HUMAN C279Y Disease PERF_HUMAN G429E Disease PERF_HUMAN R123H Polymorphism SYTL4_HUMAN V420I Polymorphism TRI32_HUMAN D487N Disease IMA2_HUMAN P165R Polymorphism IMA2_HUMAN T430P Polymorphism FANCG_HUMAN S378L Polymorphism FANCG_HUMAN R513Q Polymorphism FANCG_HUMAN T297I Polymorphism FANCG_HUMAN L71P Disease FANCG_HUMAN P330S Polymorphism FANCG_HUMAN S603F Polymorphism FANCG_HUMAN G294E Polymorphism FANCG_HUMAN K430E Polymorphism LGP2_HUMAN R523Q Polymorphism LGP2_HUMAN Q425R Polymorphism APOA5_HUMAN S19W Polymorphism APOA5_HUMAN G185C Polymorphism APOA5_HUMAN V153M Polymorphism BKRB1_HUMAN A250V Polymorphism KCNE2_HUMAN I57T Disease KCNE2_HUMAN A66V Polymorphism KCNE2_HUMAN T8A Polymorphism KCNE2_HUMAN V65M Disease KCNE2_HUMAN M54T Disease KCNE2_HUMAN Q9E Disease KCNQ4_HUMAN G285S Disease KCNQ4_HUMAN G321S Disease KCNQ4_HUMAN L281S Disease KCNQ4_HUMAN L274H Disease KCNQ4_HUMAN G285C Disease KCNQ4_HUMAN W276S Disease CD1E_HUMAN L184P Polymorphism CD1E_HUMAN Q96R Polymorphism CD1E_HUMAN R154W Polymorphism CO3_HUMAN E469D Polymorphism CO3_HUMAN G1224D Polymorphism CO3_HUMAN D549N Disease CO3_HUMAN R1320Q Disease CO3_HUMAN L314P Polymorphism CO3_HUMAN R102G Polymorphism CO3_HUMAN R863K Polymorphism CO3_HUMAN I1367T Polymorphism DHI2_HUMAN R208C Disease DHI2_HUMAN L250R Disease DHI2_HUMAN A328V Disease DHI2_HUMAN R213C Disease DHI2_HUMAN R337C Disease DHI2_HUMAN D244N Disease DHI2_HUMAN S180F Disease DHI2_HUMAN L179R Disease DHI2_HUMAN R186C Disease DHI2_HUMAN A237V Disease DHI2_HUMAN R208H Disease DHI2_HUMAN R279C Disease TRPM6_HUMAN K1584E Polymorphism TRPM6_HUMAN N1071D Polymorphism TRPM6_HUMAN S141L Disease TRPM6_HUMAN V1393I Polymorphism EI2BE_HUMAN R315H Disease EI2BE_HUMAN E650K Disease EI2BE_HUMAN V73G Disease EI2BE_HUMAN G386V Disease EI2BE_HUMAN V587I Polymorphism EI2BE_HUMAN V430A Disease EI2BE_HUMAN R315G Disease EI2BE_HUMAN R113H Disease EI2BE_HUMAN R339P Disease EI2BE_HUMAN R339Q Disease EI2BE_HUMAN R339W Disease EI2BE_HUMAN L106F Disease EI2BE_HUMAN R299H Disease EI2BE_HUMAN W628R Disease EI2BE_HUMAN R195H Disease EI2BE_HUMAN T91A Disease NKX31_HUMAN R52C Polymorphism ZSWM1_HUMAN R101Q Polymorphism PDIA6_HUMAN K214R Polymorphism MA2B1_HUMAN T354P Disease MA2B1_HUMAN T311I Polymorphism MA2B1_HUMAN W713R Disease MA2B1_HUMAN R749W Disease MA2B1_HUMAN L808P Disease MA2B1_HUMAN L277V Polymorphism MA2B1_HUMAN N412S Polymorphism MA2B1_HUMAN R336Q Polymorphism MA2B1_HUMAN P355R Disease MA2B1_HUMAN E401K Disease MA2B1_HUMAN H71L Disease BIRC5_HUMAN K129E Polymorphism AAKG3_HUMAN P71A Polymorphism DDB2_HUMAN M215T Polymorphism DDB2_HUMAN A293T Polymorphism ACHD_HUMAN E80K Disease ACHD_HUMAN P271Q Disease ACHD_HUMAN Q288E Disease ACHD_HUMAN S289F Disease PA2G6_HUMAN D183N Polymorphism PA2G6_HUMAN R63G Polymorphism PA2G6_HUMAN A343T Polymorphism PA2G6_HUMAN V58I Polymorphism PA2G6_HUMAN R70Q Polymorphism CU123_HUMAN A97V Polymorphism ASSY_HUMAN R157C Disease ASSY_HUMAN E270Q Disease ASSY_HUMAN R157H Disease ASSY_HUMAN G324S Disease ASSY_HUMAN R272C Disease ASSY_HUMAN P96S Disease ASSY_HUMAN G280R Disease ASSY_HUMAN E283K Disease ASSY_HUMAN R265H Disease ASSY_HUMAN T389I Disease ASSY_HUMAN R95S Disease ASSY_HUMAN G390R Disease ASSY_HUMAN C19R Disease ASSY_HUMAN E191K Disease ASSY_HUMAN S18L Disease ASSY_HUMAN G362V Disease ASSY_HUMAN A118T Disease ASSY_HUMAN K310R Disease ASSY_HUMAN K310Q Disease ASSY_HUMAN R363L Disease ASSY_HUMAN R304W Disease ASSY_HUMAN R363G Disease ASSY_HUMAN R279Q Disease ASSY_HUMAN R86C Disease ASSY_HUMAN R86H Disease ASSY_HUMAN R363W Disease ASSY_HUMAN R363Q Disease ASSY_HUMAN G14S Disease ASSY_HUMAN G117D Disease ASSY_HUMAN S180N Disease ASSY_HUMAN V269M Disease ASSY_HUMAN V69A Disease ASSY_HUMAN A192V Disease ASSY_HUMAN G117S Disease ASSY_HUMAN R108L Disease ASSY_HUMAN T119I Disease ASSY_HUMAN W179R Disease TTHY_HUMAN H110N Polymorphism TTHY_HUMAN S70I Disease TTHY_HUMAN R124C Polymorphism TTHY_HUMAN T79K Disease TTHY_HUMAN G67V Disease TTHY_HUMAN V91A Disease TTHY_HUMAN G121S Polymorphism TTHY_HUMAN D38G Disease TTHY_HUMAN D94H Polymorphism TTHY_HUMAN D38E Disease TTHY_HUMAN L78H Disease TTHY_HUMAN A65T Disease TTHY_HUMAN E74G Disease TTHY_HUMAN S70R Disease TTHY_HUMAN F53L Disease TTHY_HUMAN S72P Disease TTHY_HUMAN G26S Disease TTHY_HUMAN G67A Disease TTHY_HUMAN K90N Disease TTHY_HUMAN Y134H Disease TTHY_HUMAN V48M Disease TTHY_HUMAN Y89H Disease TTHY_HUMAN Y134C Disease TTHY_HUMAN T69A Disease TTHY_HUMAN T80A Disease TTHY_HUMAN E81K Disease TTHY_HUMAN P122R Polymorphism TTHY_HUMAN Y136S Disease TTHY_HUMAN L131M Disease TTHY_HUMAN S97Y Disease TTHY_HUMAN F53I Disease TTHY_HUMAN P44S Disease TTHY_HUMAN A117G Disease TTHY_HUMAN C30R Disease TTHY_HUMAN I104S Disease TTHY_HUMAN F84L Disease TTHY_HUMAN A111S Disease TTHY_HUMAN E109Q Disease TTHY_HUMAN E109K Disease TTHY_HUMAN A56P Disease TTHY_HUMAN I127V Disease TTHY_HUMAN I93V Disease TTHY_HUMAN A129T Disease TTHY_HUMAN L75P Disease TTHY_HUMAN G67R Disease TTHY_HUMAN A65D Disease TTHY_HUMAN V50M Disease TTHY_HUMAN V50L Disease TTHY_HUMAN V50A Disease TTHY_HUMAN V40I Disease TTHY_HUMAN E62G Disease TTHY_HUMAN L78R Disease HNF4G_HUMAN I190M Polymorphism BRD2_HUMAN L238F Polymorphism FBLN5_HUMAN R71Q Disease FBLN5_HUMAN V60L Disease FBLN5_HUMAN G412E Disease FBLN5_HUMAN A363T Disease FBLN5_HUMAN R351W Disease FBLN5_HUMAN I169T Disease FBLN5_HUMAN P87S Disease FBLN5_HUMAN S227P Disease PGK1_HUMAN T351N Polymorphism PGK1_HUMAN E251A Disease PGK1_HUMAN D163V Disease PGK1_HUMAN D284V Disease PGK1_HUMAN G157V Disease PGK1_HUMAN C315R Disease PGK1_HUMAN R205P Disease PYRD_HUMAN K7Q Polymorphism CXA3_HUMAN P186L Disease CXA3_HUMAN N62S Disease CXA3_HUMAN M298L Polymorphism C1TC_HUMAN R652Q Polymorphism C1TC_HUMAN R133K Polymorphism SCYBG_HUMAN V181A Polymorphism SCYBG_HUMAN I123T Polymorphism ANXA3_HUMAN I218N Polymorphism ANXA3_HUMAN P250L Polymorphism ANXA3_HUMAN S18N Polymorphism ANXA3_HUMAN F290S Polymorphism TIP30_HUMAN G134V Disease TIP30_HUMAN R197S Polymorphism TIP30_HUMAN L144I Disease TIP30_HUMAN A116T Disease TIP30_HUMAN D108Y Disease TIP30_HUMAN R106S Disease BCAT1_HUMAN E321K Polymorphism DHB1_HUMAN A237V Polymorphism DHB1_HUMAN S312G Polymorphism UBP40_HUMAN V666A Polymorphism UBP40_HUMAN R1111C Polymorphism NAGAB_HUMAN R329W Disease NAGAB_HUMAN S160C Disease NAGAB_HUMAN E325K Disease NAGAB_HUMAN R329Q Disease TM16E_HUMAN C356R Disease TM16E_HUMAN C356G Disease PPA6_HUMAN M316V Polymorphism OREX_HUMAN L16R Disease LECT2_HUMAN V58I Polymorphism NTHL1_HUMAN D239Y Polymorphism NTHL1_HUMAN R33K Polymorphism NTHL1_HUMAN R21W Polymorphism NTHL1_HUMAN I176T Polymorphism SQSTM_HUMAN G411S Disease SQSTM_HUMAN G425R Disease SQSTM_HUMAN E274Q Polymorphism SQSTM_HUMAN P392L Disease SQSTM_HUMAN S399P Disease SQSTM_HUMAN A117V Polymorphism SQSTM_HUMAN M404T Disease SQSTM_HUMAN M404V Disease SQSTM_HUMAN P387L Disease PSB7_HUMAN V39A Polymorphism HXA1_HUMAN H73R Polymorphism MICA1_HUMAN A758E Polymorphism CASQ2_HUMAN V76M Polymorphism CASQ2_HUMAN D307H Disease CASQ2_HUMAN T66A Polymorphism NED4L_HUMAN S497R Polymorphism NED4L_HUMAN P355L Polymorphism RM40_HUMAN R129H Polymorphism KCNKF_HUMAN P260T Polymorphism KCNKF_HUMAN G95E Polymorphism KCNKF_HUMAN P261H Polymorphism KCNKF_HUMAN P323L Polymorphism AVEN_HUMAN Q228R Polymorphism TAF1_HUMAN L269V Polymorphism CDK3_HUMAN M264T Polymorphism CDK3_HUMAN T226I Polymorphism ABCB9_HUMAN V121M Polymorphism NALP2_HUMAN A1052E Polymorphism DHE3_HUMAN S270C Disease DHE3_HUMAN R322H Disease DHE3_HUMAN G499D Disease DHE3_HUMAN R318K Disease DHE3_HUMAN R322C Disease DHE3_HUMAN H507Y Disease DHE3_HUMAN R318T Disease DHE3_HUMAN E349A Disease DHE3_HUMAN Y319C Disease DHE3_HUMAN S501P Disease DHE3_HUMAN G499S Disease DHE3_HUMAN R274C Disease DHE3_HUMAN S498L Disease SERA_HUMAN V424M Disease SERA_HUMAN V489M Disease PNKP_HUMAN Y196N Polymorphism PNKP_HUMAN R180S Polymorphism PNKP_HUMAN P20S Polymorphism PNKP_HUMAN A63V Polymorphism PNKP_HUMAN V478G Polymorphism S12A3_HUMAN G741R Disease S12A3_HUMAN P349L Disease S12A3_HUMAN A728T Disease S12A3_HUMAN G630V Disease S12A3_HUMAN L850P Disease S12A3_HUMAN C421R Disease S12A3_HUMAN G496C Disease S12A3_HUMAN A588V Disease S12A3_HUMAN R955Q Disease S12A3_HUMAN R655H Disease S12A3_HUMAN R655L Disease S12A3_HUMAN D486N Disease S12A3_HUMAN R209W Disease ZN317_HUMAN Q19H Polymorphism 3BP2_HUMAN P418H Disease 3BP2_HUMAN R415Q Disease 3BP2_HUMAN R415P Disease 3BP2_HUMAN G420E Disease 3BP2_HUMAN P418L Disease 3BP2_HUMAN P418R Disease 3BP2_HUMAN G420R Disease JUN_HUMAN T297M Polymorphism SMN_HUMAN P245L Disease SMN_HUMAN T274I Disease SMN_HUMAN S262I Disease SMN_HUMAN G279V Disease SMN_HUMAN G275S Disease SMN_HUMAN Y272C Disease SMN_HUMAN A2G Disease SMN_HUMAN G279C Disease VPP4_HUMAN P524L Disease VPP4_HUMAN R449H Disease VPP4_HUMAN A2V Polymorphism VPP4_HUMAN G175D Disease VPP4_HUMAN G820R Disease VPP4_HUMAN R807Q Disease VPP4_HUMAN M580T Disease TNFA_HUMAN P84L Polymorphism TNFA_HUMAN A94T Polymorphism FATE1_HUMAN A10V Polymorphism TF2H5_HUMAN L21P Disease TF2H5_HUMAN M1T Disease OPHN1_HUMAN A45T Polymorphism OPHN1_HUMAN T301M Polymorphism GCH1_HUMAN M211V Disease GCH1_HUMAN T186K Disease GCH1_HUMAN R241W Disease GCH1_HUMAN M213V Disease GCH1_HUMAN G83A Disease GCH1_HUMAN M211I Disease GCH1_HUMAN H153P Disease GCH1_HUMAN R88P Disease GCH1_HUMAN G203R Disease GCH1_HUMAN R88W Disease GCH1_HUMAN K224R Disease GCH1_HUMAN A74V Disease GCH1_HUMAN C141R Disease GCH1_HUMAN G201E Disease GCH1_HUMAN P199L Disease GCH1_HUMAN C141W Disease GCH1_HUMAN V191I Disease GCH1_HUMAN Q180R Disease GCH1_HUMAN R178S Disease GCH1_HUMAN L71Q Disease GCH1_HUMAN G90V Disease GCH1_HUMAN L79P Disease GCH1_HUMAN P23L Disease GCH1_HUMAN H144P Disease GCH1_HUMAN S176T Disease GCH1_HUMAN M102K Disease GCH1_HUMAN D134V Disease GCH1_HUMAN R249S Disease GCH1_HUMAN L163R Disease GCH1_HUMAN F234S Disease GCH1_HUMAN I135K Disease GCH1_HUMAN R184H Disease GCH1_HUMAN M102R Disease GCH1_HUMAN D115N Disease FREA_HUMAN P292A Polymorphism CO4A5_HUMAN G298S Disease CO4A5_HUMAN G524D Disease CO4A5_HUMAN R1410C Disease CO4A5_HUMAN G1015E Disease CO4A5_HUMAN G1030S Disease CO4A5_HUMAN G1015V Disease CO4A5_HUMAN G573D Disease CO4A5_HUMAN G621C Disease CO4A5_HUMAN G669A Disease CO4A5_HUMAN G1182R Disease CO4A5_HUMAN G681D Disease CO4A5_HUMAN M898V Disease CO4A5_HUMAN G192R Disease CO4A5_HUMAN G1357S Disease CO4A5_HUMAN G629D Disease CO4A5_HUMAN E633K Disease CO4A5_HUMAN L1649R Disease CO4A5_HUMAN G420E Disease CO4A5_HUMAN G1442D Disease CO4A5_HUMAN G1333S Disease CO4A5_HUMAN G796R Disease CO4A5_HUMAN G808E Disease CO4A5_HUMAN G902V Disease CO4A5_HUMAN G420V Disease CO4A5_HUMAN G1170S Disease CO4A5_HUMAN G264R Disease CO4A5_HUMAN S1488F Disease CO4A5_HUMAN G177R Disease CO4A5_HUMAN G852E Disease CO4A5_HUMAN G872R Disease CO4A5_HUMAN G953V Disease CO4A5_HUMAN G177C Disease CO4A5_HUMAN P739S Disease CO4A5_HUMAN G216R Disease CO4A5_HUMAN G852R Disease CO4A5_HUMAN G409D Disease CO4A5_HUMAN G1451S Disease CO4A5_HUMAN L1428M Polymorphism CO4A5_HUMAN G219S Disease CO4A5_HUMAN G911E Disease CO4A5_HUMAN G687E Disease CO4A5_HUMAN G561R Disease CO4A5_HUMAN G822R Disease CO4A5_HUMAN G292V Disease CO4A5_HUMAN G292R Disease CO4A5_HUMAN G1220D Disease CO4A5_HUMAN G415R Disease CO4A5_HUMAN G331V Disease CO4A5_HUMAN G1196R Disease CO4A5_HUMAN G653R Disease CO4A5_HUMAN P619S Polymorphism CO4A5_HUMAN G1039S Disease CO4A5_HUMAN G869R Disease CO4A5_HUMAN A1498D Disease CO4A5_HUMAN G325R Disease CO4A5_HUMAN G1241C Disease CO4A5_HUMAN G374A Disease CO4A5_HUMAN G289V Disease CO4A5_HUMAN G114S Disease CO4A5_HUMAN G1229D Disease CO4A5_HUMAN G319R Disease CO4A5_HUMAN G400E Disease CO4A5_HUMAN K664N Polymorphism CO4A5_HUMAN G802R Disease CO4A5_HUMAN G1086D Disease CO4A5_HUMAN G466E Disease CO4A5_HUMAN C1564S Disease CO4A5_HUMAN G1205C Disease CO4A5_HUMAN G1252S Disease CO4A5_HUMAN G811V Disease CO4A5_HUMAN G491E Disease CO4A5_HUMAN G635D Disease CO4A5_HUMAN G1104V Disease CO4A5_HUMAN G406V Disease CO4A5_HUMAN G423E Disease CO4A5_HUMAN G558R Disease CO4A5_HUMAN G1158R Disease CO4A5_HUMAN G1211R Disease CO4A5_HUMAN G567A Disease CO4A5_HUMAN G1161R Disease CO4A5_HUMAN G1066R Disease CO4A5_HUMAN G1066S Disease CO4A5_HUMAN G638A Disease CO4A5_HUMAN G230R Disease CO4A5_HUMAN G722E Disease CO4A5_HUMAN G638V Disease CO4A5_HUMAN G295D Disease CO4A5_HUMAN G638S Disease CO4A5_HUMAN G1486A Disease CO4A5_HUMAN P1517T Disease CO4A5_HUMAN G383D Disease CO4A5_HUMAN R1511H Disease CO4A5_HUMAN I444S Polymorphism CO4A5_HUMAN G1421W Disease CO4A5_HUMAN P739A Polymorphism CO4A5_HUMAN A430D Polymorphism CO4A5_HUMAN G1143S Disease CO4A5_HUMAN G412V Disease CO4A5_HUMAN G204V Disease CO4A5_HUMAN G1107R Disease CO4A5_HUMAN G1270S Disease CO4A5_HUMAN C1567R Disease CO4A5_HUMAN P1559A Polymorphism CO4A5_HUMAN G947D Disease CO4A5_HUMAN G603V Disease CO4A5_HUMAN G1045E Disease CO4A5_HUMAN G472R Disease CO4A5_HUMAN G239E Disease CO4A5_HUMAN G772D Disease CO4A5_HUMAN R1563Q Disease CO4A5_HUMAN G1379V Disease CO4A5_HUMAN G740E Disease CO4A5_HUMAN G1211E Disease CO4A5_HUMAN G1036V Disease CO4A5_HUMAN G866E Disease CO4A5_HUMAN G1261E Disease CO4A5_HUMAN G579R Disease CO4A5_HUMAN R1422C Disease CO4A5_HUMAN G1143D Disease CO4A5_HUMAN G1167S Disease CO4A5_HUMAN C1678W Disease CO4A5_HUMAN G494D Disease CO4A5_HUMAN G632D Disease CO4A5_HUMAN G579E Disease CO4A5_HUMAN G174R Disease CO4A5_HUMAN G54D Disease CO4A5_HUMAN G609R Disease CO4A5_HUMAN G521S Disease CO4A5_HUMAN G609V Disease CO4A5_HUMAN G684V Disease CO4A5_HUMAN G545V Disease CO4A5_HUMAN G1006A Disease CO4A5_HUMAN G545R Disease CO4A5_HUMAN G743D Disease CO4A5_HUMAN R1677Q Disease CO4A5_HUMAN R1677P Disease CO4A5_HUMAN G521C Disease CO4A5_HUMAN G1427V Disease CO4A5_HUMAN G371E Disease CO4A5_HUMAN G1006V Disease CO4A5_HUMAN G325E Disease CO4A5_HUMAN G1596D Disease CO4A5_HUMAN G941C Disease CO4A5_HUMAN G129E Disease CO4A5_HUMAN G365E Disease CO4A5_HUMAN G497C Disease CO4A5_HUMAN G624D Disease CO4A5_HUMAN G878R Disease CO4A5_HUMAN W1538S Disease CO4A5_HUMAN G1244D Disease CO4A5_HUMAN G129V Disease C1QC_HUMAN G43R Disease FACE1_HUMAN W340R Disease SRTD1_HUMAN T31A Polymorphism CP19A_HUMAN C436Y Disease CP19A_HUMAN R364Q Disease CP19A_HUMAN R434C Disease CP19A_HUMAN R374C Disease CP19A_HUMAN R263C Polymorphism CP19A_HUMAN T200M Polymorphism CP19A_HUMAN W38R Polymorphism GNAT1_HUMAN G37D Disease PXMP4_HUMAN V203I Polymorphism OGG1_HUMAN R46Q Disease OGG1_HUMAN S320T Polymorphism OGG1_HUMAN S326C Polymorphism OGG1_HUMAN R154H Disease OGG1_HUMAN D322N Polymorphism OGG1_HUMAN A288V Polymorphism OGG1_HUMAN R229Q Polymorphism TSP4_HUMAN A387P Polymorphism TSP4_HUMAN A420V Polymorphism TSP4_HUMAN V646I Polymorphism TSP4_HUMAN L55Q Polymorphism KCNQ1_HUMAN L266P Disease KCNQ1_HUMAN R366P Disease KCNQ1_HUMAN R366Q Disease KCNQ1_HUMAN A341V Disease KCNQ1_HUMAN R366W Disease KCNQ1_HUMAN G269S Disease KCNQ1_HUMAN G306R Disease KCNQ1_HUMAN A194P Disease KCNQ1_HUMAN A341E Disease KCNQ1_HUMAN Y111C Disease KCNQ1_HUMAN V310I Disease KCNQ1_HUMAN S225L Disease KCNQ1_HUMAN G269D Disease KCNQ1_HUMAN G589D Disease KCNQ1_HUMAN D242N Disease KCNQ1_HUMAN G179S Disease KCNQ1_HUMAN R243C Disease KCNQ1_HUMAN R243H Disease KCNQ1_HUMAN A525T Disease KCNQ1_HUMAN R555C Disease KCNQ1_HUMAN A300T Disease KCNQ1_HUMAN G345R Disease KCNQ1_HUMAN T311I Disease KCNQ1_HUMAN P448R Disease KCNQ1_HUMAN L273F Disease KCNQ1_HUMAN Y315S Disease KCNQ1_HUMAN E160K Disease KCNQ1_HUMAN A371T Disease KCNQ1_HUMAN R174C Disease KCNQ1_HUMAN G325R Disease KCNQ1_HUMAN D317N Disease KCNQ1_HUMAN Y281C Disease KCNQ1_HUMAN R594Q Disease KCNQ1_HUMAN T391I Disease KCNQ1_HUMAN G643S Polymorphism KCNQ1_HUMAN R174H Disease KCNQ1_HUMAN L353P Disease KCNQ1_HUMAN W392R Disease KCNQ1_HUMAN G345E Disease KCNQ1_HUMAN A178T Disease KCNQ1_HUMAN S566F Disease KCNQ1_HUMAN A178P Disease KCNQ1_HUMAN R533W Disease KCNQ1_HUMAN P320A Disease KCNQ1_HUMAN R190Q Disease KCNQ1_HUMAN K318N Disease KCNQ1_HUMAN S373P Disease KCNQ1_HUMAN E261D Disease KCNQ1_HUMAN V307L Disease KCNQ1_HUMAN I313M Disease KCNQ1_HUMAN R539W Disease KCNQ1_HUMAN G189R Disease KCNQ1_HUMAN V254M Disease KCNQ1_HUMAN A344V Disease KCNQ1_HUMAN T309R Disease KCNQ1_HUMAN S140G Disease KCNQ1_HUMAN W305S Disease KCNQ1_HUMAN L342F Disease KCNQ1_HUMAN R583C Disease KCNQ1_HUMAN S349W Disease KCNQ1_HUMAN Y315C Disease KCNQ1_HUMAN T587M Disease KCNQ1_HUMAN R591H Disease KCNQ1_HUMAN F157C Disease KCNQ1_HUMAN E261K Disease KCNQ1_HUMAN G314S Disease KCNQ1_HUMAN L250H Disease KCNQ1_HUMAN V417M Disease KCNQ1_HUMAN Y184S Disease KCNQ1_HUMAN G168R Disease KCNQ1_HUMAN W248R Disease KCNQ1_HUMAN G216R Disease KCNQ1_HUMAN T312I Disease DPOLB_HUMAN P241R Polymorphism AL3A1_HUMAN P329A Polymorphism AL3A1_HUMAN G309E Polymorphism AL3A1_HUMAN A134S Polymorphism RNPC1_HUMAN A155V Polymorphism RNPC1_HUMAN P189H Polymorphism RNPC1_HUMAN A177D Polymorphism AUTS2_HUMAN A303S Polymorphism STAT2_HUMAN Q826H Polymorphism STAT2_HUMAN M594I Polymorphism STAT2_HUMAN I464V Polymorphism STAT2_HUMAN S501I Polymorphism STAT2_HUMAN Q66H Polymorphism STAT2_HUMAN L220P Polymorphism STAT2_HUMAN T448M Polymorphism IL19_HUMAN S175F Polymorphism MBB1A_HUMAN Q8E Polymorphism HEMH_HUMAN H386P Disease HEMH_HUMAN R96Q Polymorphism HEMH_HUMAN M267I Disease HEMH_HUMAN F417S Disease HEMH_HUMAN G55C Disease HEMH_HUMAN I186T Disease CA037_HUMAN T80A Polymorphism CA037_HUMAN R10M Polymorphism KCNK4_HUMAN P328L Polymorphism DIAC_HUMAN D310Y Polymorphism EI2BG_HUMAN A87V Disease EI2BG_HUMAN R225Q Disease MBIP1_HUMAN H7L Polymorphism ADA2A_HUMAN N251K Polymorphism PTPR2_HUMAN S325N Polymorphism PTPR2_HUMAN V343M Polymorphism DUT_HUMAN P100S Polymorphism HPRT_HUMAN T167I Disease HPRT_HUMAN D200N Disease HPRT_HUMAN M53L Disease HPRT_HUMAN D200G Disease HPRT_HUMAN I131M Disease HPRT_HUMAN F198V Disease HPRT_HUMAN V52M Disease HPRT_HUMAN G57R Disease HPRT_HUMAN L40P Disease HPRT_HUMAN D200Y Disease HPRT_HUMAN R44K Disease HPRT_HUMAN V7G Disease HPRT_HUMAN G15S Disease HPRT_HUMAN I41T Disease HPRT_HUMAN A160S Disease HPRT_HUMAN I182T Disease HPRT_HUMAN R50G Disease HPRT_HUMAN F73L Disease HPRT_HUMAN I41F Disease HPRT_HUMAN D79V Disease HPRT_HUMAN M142K Disease HPRT_HUMAN R50P Disease HPRT_HUMAN D193N Disease HPRT_HUMAN G15D Disease HPRT_HUMAN A49P Disease HPRT_HUMAN A49V Disease HPRT_HUMAN H203D Disease HPRT_HUMAN D193E Disease HPRT_HUMAN G69E Disease HPRT_HUMAN M56T Disease HPRT_HUMAN D19V Disease HPRT_HUMAN G70R Disease HPRT_HUMAN Y194C Disease HPRT_HUMAN V52A Disease HPRT_HUMAN H203R Disease HPRT_HUMAN R47H Disease HPRT_HUMAN S161R Disease HPRT_HUMAN V129D Disease HPRT_HUMAN D134G Disease HPRT_HUMAN G6D Disease HPRT_HUMAN S109L Disease HPRT_HUMAN D176V Disease HPRT_HUMAN P175L Disease HPRT_HUMAN I131T Disease HPRT_HUMAN D176Y Disease HPRT_HUMAN S103R Disease HPRT_HUMAN L77V Disease HPRT_HUMAN L130S Disease HPRT_HUMAN C205Y Disease KCRM_HUMAN E83G Polymorphism KCRM_HUMAN L127V Polymorphism KCRM_HUMAN G243A Polymorphism DYSF_HUMAN P791R Disease DYSF_HUMAN I1298V Disease DYSF_HUMAN R2042C Disease DYSF_HUMAN H1857R Disease DYSF_HUMAN R1242H Polymorphism SIA8C_HUMAN K91T Polymorphism SALL4_HUMAN I798L Polymorphism SALL4_HUMAN L507R Polymorphism CXA10_HUMAN V497I Polymorphism IGF1B_HUMAN A187D Polymorphism PIGA_HUMAN G48V Disease PIGA_HUMAN D40H Disease PIGA_HUMAN N297D Disease PIGA_HUMAN G48D Disease PIGA_HUMAN G48A Disease PIGA_HUMAN S155F Disease PIGA_HUMAN G239R Disease PIGA_HUMAN R19W Disease PIGA_HUMAN H128R Disease CD97_HUMAN Q367R Polymorphism SPEB_HUMAN R105G Polymorphism DNL4_HUMAN G402E Disease DNL4_HUMAN I591V Polymorphism DNL4_HUMAN A790T Polymorphism DNL4_HUMAN L472F Polymorphism DNL4_HUMAN P164S Polymorphism DNL4_HUMAN R211H Disease PDL2_HUMAN F229S Polymorphism CHSS3_HUMAN D764G Polymorphism IFIH1_HUMAN A946T Polymorphism IFIH1_HUMAN R843H Polymorphism CHM2B_HUMAN D148Y Disease PRIO_HUMAN P105L Disease PRIO_HUMAN F198S Disease PRIO_HUMAN D202N Disease PRIO_HUMAN G131V Disease PRIO_HUMAN N171S Polymorphism PRIO_HUMAN M129V Polymorphism PRIO_HUMAN R208H Disease PRIO_HUMAN Q217R Disease PRIO_HUMAN V210I Disease PRIO_HUMAN E211Q Disease PRIO_HUMAN V180I Disease PRIO_HUMAN P102L Disease PRIO_HUMAN E219K Polymorphism PRIO_HUMAN D178N Disease PRIO_HUMAN M232R Disease PRIO_HUMAN E200K Disease PRIO_HUMAN P238S Polymorphism PRIO_HUMAN H187R Disease PRIO_HUMAN E196K Disease PRIO_HUMAN V203I Disease PRIO_HUMAN T188R Polymorphism PRIO_HUMAN Q212P Disease ENP1_HUMAN V293I Polymorphism EDA_HUMAN G269V Disease EDA_HUMAN H54Y Disease EDA_HUMAN G255D Disease EDA_HUMAN G255C Disease EDA_HUMAN P209L Disease EDA_HUMAN R156C Disease EDA_HUMAN D298H Disease EDA_HUMAN G224A Disease EDA_HUMAN G291R Disease EDA_HUMAN T378M Disease EDA_HUMAN G291W Disease EDA_HUMAN Y61H Disease EDA_HUMAN F302S Disease EDA_HUMAN W274G Disease EDA_HUMAN G299S Disease EDA_HUMAN L55R Disease EDA_HUMAN E63K Disease EDA_HUMAN A356D Disease EDA_HUMAN R156H Disease EDA_HUMAN R357P Disease EDA_HUMAN R69L Disease EDA_HUMAN H252Y Disease EDA_HUMAN A349T Disease EDA_HUMAN H252L Disease EDA_HUMAN C60R Disease EDA_HUMAN C332Y Disease EDA_HUMAN R155C Disease ADRB2_HUMAN I159L Polymorphism ADRB2_HUMAN R16G Polymorphism ADRB2_HUMAN I159F Polymorphism ADRB2_HUMAN K375R Polymorphism ADRB2_HUMAN T164I Polymorphism ADRB2_HUMAN V34M Polymorphism ADRB2_HUMAN Q27E Polymorphism GPA33_HUMAN D20N Polymorphism MCEE_HUMAN R104L Polymorphism ASPG_HUMAN G252R Disease ASPG_HUMAN G302R Disease ASPG_HUMAN F135S Disease ASPG_HUMAN V12L Disease ASPG_HUMAN G60D Disease ASPG_HUMAN G100E Disease ASPG_HUMAN C163S Disease ASPG_HUMAN R161Q Disease ASPG_HUMAN T257I Disease ASPG_HUMAN C306R Disease ASPG_HUMAN G252E Disease ASPG_HUMAN A101V Disease ASPG_HUMAN S72P Disease NEUM_HUMAN V59I Polymorphism UB2J1_HUMAN L229V Polymorphism UB2J1_HUMAN G55V Polymorphism FOXM1_HUMAN S643P Polymorphism K1024_HUMAN I832V Polymorphism NK2R_HUMAN I23T Polymorphism NK2R_HUMAN R375H Polymorphism NUKM_HUMAN V122M Disease NUKM_HUMAN L23P Polymorphism S6A13_HUMAN V398I Polymorphism TREM2_HUMAN K186N Disease TREM2_HUMAN D134G Disease GSHR_HUMAN P314H Polymorphism GSHR_HUMAN I261V Polymorphism GSHR_HUMAN E297D Polymorphism GSHR_HUMAN G232S Polymorphism GSHR_HUMAN R153C Polymorphism BBS2_HUMAN N70S Disease BBS2_HUMAN D104A Disease BBS2_HUMAN R632P Disease BBS2_HUMAN I123V Polymorphism BBS2_HUMAN R315Q Disease BBS2_HUMAN T558I Disease BBS2_HUMAN V75G Disease BBS2_HUMAN R315W Disease CP1B1_HUMAN P379L Polymorphism CP1B1_HUMAN R266L Polymorphism CP1B1_HUMAN A443G Polymorphism CP1B1_HUMAN S206N Polymorphism CP1B1_HUMAN R469W Disease CP1B1_HUMAN P437L Polymorphism CP1B1_HUMAN N453S Polymorphism CP1B1_HUMAN L432V Polymorphism CP1B1_HUMAN A119S Polymorphism CP1B1_HUMAN G365W Disease CP1B1_HUMAN R368H Disease CP1B1_HUMAN D374N Disease CP1B1_HUMAN E387K Polymorphism CP1B1_HUMAN R48G Polymorphism CP1B1_HUMAN R390H Polymorphism CP1B1_HUMAN G61E Disease CP1B1_HUMAN W57C Polymorphism GSTP1_HUMAN A113V Polymorphism GSTP1_HUMAN I104V Polymorphism PDLI1_HUMAN N174S Polymorphism GUC1B_HUMAN E154D Polymorphism VSX1_HUMAN H244R Disease VSX1_HUMAN G160D Disease VSX1_HUMAN D144E Disease VSX1_HUMAN L159M Disease VSX1_HUMAN R166W Disease DYR1A_HUMAN Y415F Polymorphism DYR1A_HUMAN Q681H Polymorphism CB017_HUMAN Q419P Polymorphism RSF1_HUMAN Y329C Polymorphism RSF1_HUMAN R53C Polymorphism RSF1_HUMAN K21Q Polymorphism RSF1_HUMAN D133E Polymorphism RSF1_HUMAN A137S Polymorphism RSF1_HUMAN S135F Polymorphism SCN4A_HUMAN N559D Polymorphism SCN4A_HUMAN G1306V Disease SCN4A_HUMAN S804F Disease SCN4A_HUMAN G524S Polymorphism SCN4A_HUMAN S246L Polymorphism SCN4A_HUMAN G1306A Disease SCN4A_HUMAN R669H Disease SCN4A_HUMAN M135V Polymorphism SCN4A_HUMAN P1158S Disease SCN4A_HUMAN A861D Polymorphism SCN4A_HUMAN T704M Disease SCN4A_HUMAN R1448C Disease SCN4A_HUMAN T1313M Disease SCN4A_HUMAN R1448H Disease SCN4A_HUMAN R672G Disease SCN4A_HUMAN R672H Disease SCN4A_HUMAN R672S Disease SCN4A_HUMAN A1152D Disease SCN4A_HUMAN L1433R Disease SCN4A_HUMAN D1376N Polymorphism SCN4A_HUMAN V1293I Disease SCN4A_HUMAN G1306E Disease SCN4A_HUMAN M1592V Disease SCN4A_HUMAN V1589M Disease SCN4A_HUMAN A1156T Disease I12R2_HUMAN M13V Polymorphism I12R2_HUMAN Q426H Polymorphism I12R2_HUMAN A625V Polymorphism I12R2_HUMAN I185V Polymorphism I12R2_HUMAN L808R Polymorphism I12R2_HUMAN H720R Polymorphism I12R2_HUMAN T201I Polymorphism I12R2_HUMAN R313G Polymorphism I12R2_HUMAN R149Q Polymorphism I12R2_HUMAN G420R Polymorphism I12R2_HUMAN G465D Polymorphism CO5A1_HUMAN G1489D Disease CO5A1_HUMAN C1639S Disease CO5A1_HUMAN G530S Disease CILP1_HUMAN V1168A Polymorphism CILP1_HUMAN D1101N Polymorphism CILP1_HUMAN L59W Polymorphism CILP1_HUMAN R979Q Polymorphism CILP1_HUMAN S1166G Polymorphism CILP1_HUMAN I395T Polymorphism CILP1_HUMAN E575K Polymorphism CILP1_HUMAN A895V Polymorphism CILP1_HUMAN S327F Polymorphism MKKS_HUMAN H84Y Disease MKKS_HUMAN A242S Disease MKKS_HUMAN G52D Disease MKKS_HUMAN T57A Disease MKKS_HUMAN L277P Disease MKKS_HUMAN S511A Disease MKKS_HUMAN C499S Disease MKKS_HUMAN G532V Polymorphism MKKS_HUMAN D286A Disease MKKS_HUMAN G345E Disease MKKS_HUMAN R155L Disease MKKS_HUMAN I32M Disease MKKS_HUMAN I339V Disease MKKS_HUMAN Y37C Disease MKKS_HUMAN R517C Polymorphism MKKS_HUMAN G49V Polymorphism MKKS_HUMAN R518H Disease MKKS_HUMAN S236P Disease ADRO_HUMAN Q123R Polymorphism TACD1_HUMAN T115M Polymorphism HNF3A_HUMAN A72G Polymorphism HNF3A_HUMAN S449N Polymorphism HNF3A_HUMAN A83T Polymorphism HNF3A_HUMAN R186Q Polymorphism PTPRG_HUMAN G574S Polymorphism IL1F5_HUMAN N47S Polymorphism TMBI4_HUMAN T88I Polymorphism ANXA2_HUMAN V97L Polymorphism O12D3_HUMAN T97I Polymorphism IL21R_HUMAN S318R Polymorphism IL21R_HUMAN G484S Polymorphism IL21R_HUMAN R191C Polymorphism HLAE_HUMAN R178G Polymorphism HLAE_HUMAN R128G Polymorphism HLAE_HUMAN G104R Polymorphism CA036_HUMAN R47C Polymorphism NCPR_HUMAN V488E Disease NCPR_HUMAN A283P Disease NCPR_HUMAN C565Y Disease NCPR_HUMAN R453H Disease NCPR_HUMAN V604F Disease NCPR_HUMAN A499V Polymorphism NCPR_HUMAN Y177D Disease NCPR_HUMAN R550Q Polymorphism NCPR_HUMAN Y574C Disease LZTS1_HUMAN L474V Polymorphism LZTS1_HUMAN K118E Disease LZTS1_HUMAN S28P Disease BCS1_HUMAN R155P Disease BCS1_HUMAN V353M Disease BCS1_HUMAN P99L Disease BCS1_HUMAN R144Q Disease BCS1_HUMAN S277N Disease BCS1_HUMAN S78G Disease BCS1_HUMAN V327A Disease UPA8_HUMAN S4H Polymorphism EDG6_HUMAN R365L Polymorphism DCE1_HUMAN I228L Polymorphism DCE1_HUMAN R532Q Polymorphism DCE1_HUMAN V474G Polymorphism DCE1_HUMAN F565L Polymorphism KYNU_HUMAN K412E Polymorphism ATRX_HUMAN R1742K Disease ATRX_HUMAN K1650N Disease ATRX_HUMAN P1713S Disease ATRX_HUMAN C1614R Disease ATRX_HUMAN P190S Disease ATRX_HUMAN C200S Disease ATRX_HUMAN G740E Polymorphism ATRX_HUMAN P190L Disease ATRX_HUMAN Y2163C Disease ATRX_HUMAN P190A Disease ATRX_HUMAN R2131Q Disease ATRX_HUMAN L192F Disease ATRX_HUMAN G249C Disease ATRX_HUMAN G249D Disease ATRX_HUMAN W222S Disease ATRX_HUMAN I2050T Disease ATRX_HUMAN Q929E Polymorphism ATRX_HUMAN Y1847C Disease ATRX_HUMAN C220R Disease ATRX_HUMAN D2035V Disease ATRX_HUMAN N179S Disease ATRX_HUMAN N1860S Polymorphism ATRX_HUMAN Y2084H Disease ATRX_HUMAN V1538G Disease ATRX_HUMAN Q219P Disease ATRX_HUMAN R246C Disease ATRX_HUMAN T1621M Disease ATRX_HUMAN H1609R Disease ATRX_HUMAN V1552F Disease ATRX_HUMAN P596S Polymorphism ATRX_HUMAN G175E Disease ATRX_HUMAN V194I Disease ATRX_HUMAN R246L Disease ATRX_HUMAN C243F Disease ATRX_HUMAN L1645S Disease ANT3_HUMAN I453T Disease ANT3_HUMAN L23P Disease ANT3_HUMAN A416S Disease ANT3_HUMAN A414T Disease ANT3_HUMAN Q133K Disease ANT3_HUMAN A416P Disease ANT3_HUMAN I316N Disease ANT3_HUMAN E334K Disease ANT3_HUMAN C462F Disease ANT3_HUMAN L302P Disease ANT3_HUMAN P461L Disease ANT3_HUMAN R425P Disease ANT3_HUMAN N167T Polymorphism ANT3_HUMAN F90L Disease ANT3_HUMAN R161Q Disease ANT3_HUMAN L158P Disease ANT3_HUMAN V30E Polymorphism ANT3_HUMAN A419V Disease ANT3_HUMAN R391Q Polymorphism ANT3_HUMAN T147A Polymorphism ANT3_HUMAN P439T Disease ANT3_HUMAN R425H Disease ANT3_HUMAN N219D Disease ANT3_HUMAN N219K Disease ANT3_HUMAN P73L Disease ANT3_HUMAN L131F Disease ANT3_HUMAN P112T Disease ANT3_HUMAN M283I Disease ANT3_HUMAN G456R Disease ANT3_HUMAN P439L Disease ANT3_HUMAN I39N Disease ANT3_HUMAN A436T Disease ANT3_HUMAN H152Y Disease ANT3_HUMAN G424D Disease ANT3_HUMAN Y190C Polymorphism ANT3_HUMAN A459D Disease ANT3_HUMAN R457T Disease ANT3_HUMAN M52T Disease ANT3_HUMAN R56C Disease ANT3_HUMAN E269K Disease ANT3_HUMAN S214Y Disease ANT3_HUMAN R79H Disease ANT3_HUMAN F434C Disease ANT3_HUMAN R79C Disease ANT3_HUMAN N437K Disease ANT3_HUMAN F434L Disease ANT3_HUMAN S426L Disease ANT3_HUMAN R425C Disease ANT3_HUMAN Y198C Disease ANT3_HUMAN F434S Disease ANT3_HUMAN Y95S Disease ANT3_HUMAN R438G Disease ANT3_HUMAN S381P Disease ANT3_HUMAN R79S Disease ANT3_HUMAN R438M Disease ANT3_HUMAN R89C Disease MYO7A_HUMAN Y1719C Disease MYO7A_HUMAN R212H Disease MYO7A_HUMAN G2187D Disease MYO7A_HUMAN V67M Disease MYO7A_HUMAN R212C Disease MYO7A_HUMAN L16S Disease MYO7A_HUMAN R241C Disease MYO7A_HUMAN C1666S Polymorphism MYO7A_HUMAN C1666G Polymorphism MYO7A_HUMAN A397D Disease MYO7A_HUMAN A1288P Disease MYO7A_HUMAN R241S Disease MYO7A_HUMAN L1858P Disease MYO7A_HUMAN E450Q Disease MYO7A_HUMAN P503L Disease MYO7A_HUMAN A826T Disease MYO7A_HUMAN A26E Disease MYO7A_HUMAN I205V Polymorphism MYO7A_HUMAN M599I Disease MYO7A_HUMAN I134N Disease MYO7A_HUMAN R1343S Disease MYO7A_HUMAN G519D Disease MYO7A_HUMAN R1602Q Disease MYO7A_HUMAN A1628S Disease MYO7A_HUMAN R244P Disease MYO7A_HUMAN G2163S Disease MYO7A_HUMAN R90P Disease MYO7A_HUMAN I1954L Polymorphism MYO7A_HUMAN A457V Disease MYO7A_HUMAN E968D Disease MYO7A_HUMAN L1087P Disease MYO7A_HUMAN P1887L Disease MYO7A_HUMAN G25R Disease MYO7A_HUMAN T165M Disease MYO7A_HUMAN E1170K Disease MYO7A_HUMAN R1743W Disease MYO7A_HUMAN G2137E Disease MYO7A_HUMAN R302H Disease MYO7A_HUMAN G955S Disease MYO7A_HUMAN V597I Polymorphism MYO7A_HUMAN R756W Disease MYO7A_HUMAN L651P Disease MYO7A_HUMAN F1992I Polymorphism MYO7A_HUMAN R1240Q Disease MYO7A_HUMAN R1883Q Disease MYO7A_HUMAN G214R Disease CASR_HUMAN F806S Disease CASR_HUMAN A986S Polymorphism CASR_HUMAN R185Q Disease CASR_HUMAN A116T Disease CASR_HUMAN E297K Disease CASR_HUMAN Q1011E Polymorphism CASR_HUMAN C582Y Disease CASR_HUMAN R62M Disease CASR_HUMAN P951T Polymorphism CASR_HUMAN R66C Disease CASR_HUMAN G143E Disease CASR_HUMAN C851S Polymorphism CASR_HUMAN R795W Disease CASR_HUMAN T138M Disease CASR_HUMAN L174R Disease CASR_HUMAN P39A Disease CASR_HUMAN G557E Disease CASR_HUMAN R990G Polymorphism CASR_HUMAN R227L Disease CASR_HUMAN Q681H Disease CASR_HUMAN R227Q Disease CASR_HUMAN L616V Disease NFKB2_HUMAN G351R Polymorphism NFKB2_HUMAN E14K Polymorphism NFKB2_HUMAN G452R Polymorphism ACTN4_HUMAN S262P Disease ACTN4_HUMAN T259I Disease ACTN4_HUMAN K255E Disease EDAD_HUMAN E152K Disease MK12_HUMAN T244M Polymorphism KISS1_HUMAN E20K Polymorphism KISS1_HUMAN Q36R Polymorphism KISS1_HUMAN R81P Polymorphism SC5A4_HUMAN A46T Polymorphism PSN1_HUMAN L392V Disease PSN1_HUMAN L282R Disease PSN1_HUMAN F205L Polymorphism PSN1_HUMAN R269G Disease PSN1_HUMAN R269H Disease PSN1_HUMAN M139T Disease PSN1_HUMAN R278T Disease PSN1_HUMAN M233L Disease PSN1_HUMAN A260V Disease PSN1_HUMAN S169L Disease PSN1_HUMAN L173W Disease PSN1_HUMAN M233T Disease PSN1_HUMAN A426P Disease PSN1_HUMAN I213T Disease PSN1_HUMAN T116N Disease PSN1_HUMAN L271V Disease PSN1_HUMAN L286V Disease PSN1_HUMAN V82L Disease PSN1_HUMAN A231V Disease PSN1_HUMAN M139K Disease PSN1_HUMAN A231T Disease PSN1_HUMAN P267S Disease PSN1_HUMAN P267T Disease PSN1_HUMAN C263R Disease PSN1_HUMAN T147I Disease PSN1_HUMAN G209V Disease PSN1_HUMAN G266S Disease PSN1_HUMAN S390I Disease PSN1_HUMAN M139V Disease PSN1_HUMAN M146V Disease PSN1_HUMAN M146I Disease PSN1_HUMAN C92S Disease PSN1_HUMAN M139I Disease PSN1_HUMAN F105L Disease PSN1_HUMAN G209R Disease PSN1_HUMAN E120K Disease PSN1_HUMAN L262F Disease PSN1_HUMAN N135D Disease PSN1_HUMAN E120D Disease PSN1_HUMAN M146L Disease PSN1_HUMAN A409T Disease PSN1_HUMAN I143F Disease PSN1_HUMAN L219P Disease PSN1_HUMAN S169P Disease PSN1_HUMAN P436S Disease PSN1_HUMAN L174M Disease PSN1_HUMAN A285V Disease PSN1_HUMAN L166P Disease PSN1_HUMAN E280A Disease PSN1_HUMAN E280G Disease PSN1_HUMAN I143T Disease PSN1_HUMAN V96F Disease PSN1_HUMAN C410Y Disease PSN1_HUMAN L113P Disease PSN1_HUMAN G378E Disease PSN1_HUMAN H163Y Disease PSN1_HUMAN S289C Disease PSN1_HUMAN P264L Disease PSN1_HUMAN E318G Polymorphism PSN1_HUMAN L250S Disease PSN1_HUMAN P117L Disease PSN1_HUMAN H163R Disease PSN1_HUMAN L171P Disease PSN1_HUMAN G206A Disease PSN1_HUMAN A246E Disease PSN1_HUMAN P436Q Disease PSN1_HUMAN Y115H Disease PSN1_HUMAN W165C Disease PSN1_HUMAN N405S Disease PSN1_HUMAN G384A Disease PSN1_HUMAN A79V Disease PSN1_HUMAN Y115C Disease ZN132_HUMAN P135L Polymorphism ZCC2_HUMAN R485K Polymorphism ZCC2_HUMAN H565Q Polymorphism ZCC2_HUMAN I851T Polymorphism COG1_HUMAN N392S Polymorphism ITSN2_HUMAN I1286T Polymorphism ITSN2_HUMAN A1533T Polymorphism INPP_HUMAN T228A Polymorphism SPNXB_HUMAN V74L Polymorphism CP1A1_HUMAN G45D Polymorphism CP1A1_HUMAN I78T Polymorphism CP1A1_HUMAN R279W Polymorphism CP1A1_HUMAN I286T Polymorphism CP1A1_HUMAN I462V Polymorphism CP1A1_HUMAN P492R Polymorphism CP1A1_HUMAN I448N Polymorphism CP1A1_HUMAN R464C Polymorphism CP1A1_HUMAN M331I Polymorphism CP1A1_HUMAN R464S Polymorphism CP1A1_HUMAN T461N Polymorphism CP1A1_HUMAN R477W Polymorphism PHX2A_HUMAN A72V Disease GNA13_HUMAN V221L Polymorphism RFA4_HUMAN A33T Polymorphism HNRH3_HUMAN N163S Polymorphism EPHA7_HUMAN V138I Polymorphism EPHA7_HUMAN P278S Polymorphism ALDR_HUMAN H41L Polymorphism ALDR_HUMAN G203S Polymorphism ALDR_HUMAN L72V Polymorphism ALDR_HUMAN I14F Polymorphism ALDR_HUMAN T287I Polymorphism A1BG_HUMAN H395R Polymorphism A1BG_HUMAN R52H Polymorphism PEX6_HUMAN R812W Disease PEX6_HUMAN R812Q Disease P2RY4_HUMAN N178T Polymorphism P2RY4_HUMAN P191L Polymorphism P2RY4_HUMAN V168M Polymorphism ITA4_HUMAN R884Q Polymorphism SEPR_HUMAN R354T Polymorphism TYDP1_HUMAN H493R Disease KS6A1_HUMAN K335T Polymorphism CSPG3_HUMAN P92S Polymorphism CSPG3_HUMAN V1254A Polymorphism RFRP_HUMAN D42G Polymorphism RFRP_HUMAN M32I Polymorphism T2R16_HUMAN R222H Polymorphism CLCN5_HUMAN S520P Disease CLCN5_HUMAN L200R Disease CLCN5_HUMAN E527D Disease CLCN5_HUMAN R280P Disease CLCN5_HUMAN G506E Disease CLCN5_HUMAN G512R Disease CLCN5_HUMAN G57V Disease CLCN5_HUMAN S244L Disease VN1R1_HUMAN S241F Polymorphism VN1R1_HUMAN A269D Polymorphism VN1R1_HUMAN I139T Polymorphism GALK1_HUMAN G346S Disease GALK1_HUMAN T288M Disease GALK1_HUMAN V338A Polymorphism GALK1_HUMAN P28T Disease GALK1_HUMAN G349S Disease GALK1_HUMAN A198V Disease GALK1_HUMAN H44Y Disease GALK1_HUMAN R68C Disease GALK1_HUMAN A384P Disease GALK1_HUMAN G274D Polymorphism GALK1_HUMAN R239Q Disease GALK1_HUMAN I184M Polymorphism GALK1_HUMAN V32M Disease GALK1_HUMAN G36R Disease CC14A_HUMAN R345Q Polymorphism CC14A_HUMAN S589F Polymorphism TR10B_HUMAN P32L Polymorphism TR10B_HUMAN A67V Polymorphism IDS_HUMAN K347T Disease IDS_HUMAN D269V Disease IDS_HUMAN S87N Disease IDS_HUMAN P469H Disease IDS_HUMAN H159P Disease IDS_HUMAN L102R Disease IDS_HUMAN K135R Disease IDS_HUMAN P86L Disease IDS_HUMAN D334G Disease IDS_HUMAN E125V Disease IDS_HUMAN S333L Disease IDS_HUMAN K227Q Disease IDS_HUMAN E434K Disease IDS_HUMAN Q293H Disease IDS_HUMAN A85T Disease IDS_HUMAN D45N Disease IDS_HUMAN K347I Disease IDS_HUMAN Y108C Disease IDS_HUMAN T118I Disease IDS_HUMAN G224E Disease IDS_HUMAN P120H Disease IDS_HUMAN S143F Disease IDS_HUMAN R468L Disease IDS_HUMAN I485R Disease IDS_HUMAN Y54D Disease IDS_HUMAN S71R Disease IDS_HUMAN G134R Disease IDS_HUMAN D478G Disease IDS_HUMAN R48P Disease IDS_HUMAN E341K Disease IDS_HUMAN I485K Disease IDS_HUMAN R88C Disease IDS_HUMAN D478Y Disease IDS_HUMAN A68E Disease IDS_HUMAN C422G Disease IDS_HUMAN S491F Disease IDS_HUMAN P358R Disease IDS_HUMAN L196S Disease IDS_HUMAN L92P Disease IDS_HUMAN E521V Disease IDS_HUMAN P120R Disease IDS_HUMAN K135N Disease IDS_HUMAN Q465P Disease IDS_HUMAN C184F Disease IDS_HUMAN H229Y Disease IDS_HUMAN Y523C Disease IDS_HUMAN A82E Disease IDS_HUMAN Y348H Disease IDS_HUMAN S132W Disease IDS_HUMAN N115Y Disease IDS_HUMAN R88P Disease IDS_HUMAN L403R Disease IDS_HUMAN A346D Disease IDS_HUMAN G94D Disease IDS_HUMAN P86R Disease IDS_HUMAN W345C Disease IDS_HUMAN D252N Disease IDS_HUMAN S349I Disease IDS_HUMAN P160R Disease IDS_HUMAN H342Y Disease IDS_HUMAN A346V Disease IDS_HUMAN C184W Disease IDS_HUMAN P266R Disease IDS_HUMAN W502S Disease IDS_HUMAN Y264N Disease IDS_HUMAN C432Y Disease IDS_HUMAN G340D Disease IDS_HUMAN R468W Disease IDS_HUMAN R88H Disease IDS_HUMAN R468Q Disease IDS_HUMAN A79E Disease IDS_HUMAN W502C Disease IDS_HUMAN P86Q Disease IDS_HUMAN P228L Disease IDS_HUMAN D198G Disease IDS_HUMAN R88L Disease IDS_HUMAN L221P Disease IDS_HUMAN N63D Disease IDS_HUMAN W337R Disease IDS_HUMAN R468G Disease IDS_HUMAN Y225D Disease IDS_HUMAN P266H Disease PDE10_HUMAN L303P Polymorphism ALS_HUMAN P498S Polymorphism ALS_HUMAN R548W Polymorphism ABC3F_HUMAN P97L Polymorphism ABC3F_HUMAN Q61L Polymorphism ABC3F_HUMAN S108A Polymorphism ABC3F_HUMAN V231I Polymorphism ANR12_HUMAN S818N Polymorphism ANR12_HUMAN T171S Polymorphism PRPC_HUMAN R119C Polymorphism PRPC_HUMAN D66N Polymorphism PRPC_HUMAN D20N Polymorphism PRPC_HUMAN I42L Polymorphism PRPC_HUMAN Q163K Polymorphism MYO1A_HUMAN F600L Polymorphism MYO1A_HUMAN S797F Disease MYO1A_HUMAN G674D Disease MYO1A_HUMAN G662E Disease MYO1A_HUMAN E385D Disease MYO1A_HUMAN V306M Disease MYO1A_HUMAN S910P Disease GUC2F_HUMAN L284P Polymorphism GUC2F_HUMAN Q296R Polymorphism GPC6A_HUMAN P91S Polymorphism MASP_HUMAN I319V Polymorphism SHAN1_HUMAN V1504A Polymorphism OPSB_HUMAN S214P Disease OPSB_HUMAN P264S Disease OPSB_HUMAN G79R Disease CATK_HUMAN A277V Disease CATK_HUMAN G79E Disease CATK_HUMAN G146R Disease CATK_HUMAN L309P Disease CM003_HUMAN T254A Polymorphism CU128_HUMAN F98V Polymorphism CI138_HUMAN K27E Polymorphism CI138_HUMAN P63S Polymorphism WNK4_HUMAN E562K Disease WNK4_HUMAN Q565E Disease WNK4_HUMAN D564A Disease WNK4_HUMAN R1185C Disease INMT_HUMAN E219G Polymorphism INMT_HUMAN V205M Polymorphism NEUR1_HUMAN R341G Disease NEUR1_HUMAN G243R Disease NEUR1_HUMAN F260Y Disease NEUR1_HUMAN P316S Disease NEUR1_HUMAN R294S Disease NEUR1_HUMAN G219A Disease NEUR1_HUMAN G68V Disease NEUR1_HUMAN L363P Disease NEUR1_HUMAN Y370C Disease NEUR1_HUMAN S182G Disease NEUR1_HUMAN G328S Disease NEUR1_HUMAN A298V Disease NEUR1_HUMAN P335Q Disease NEUR1_HUMAN L270F Disease NEUR1_HUMAN L270P Disease NEUR1_HUMAN W240R Disease NEUR1_HUMAN L91R Disease NEUR1_HUMAN L231H Disease NEUR1_HUMAN P80L Disease NEUR1_HUMAN G227R Disease NEUR1_HUMAN V217M Disease NEUR1_HUMAN R225P Disease NEUR1_HUMAN V54M Disease K2C5_HUMAN L175F Disease K2C5_HUMAN R331C Disease K2C5_HUMAN G138E Polymorphism K2C5_HUMAN E477K Disease K2C5_HUMAN I161S Disease K2C5_HUMAN N193K Disease K2C5_HUMAN V323A Disease K2C5_HUMAN L463P Disease K2C5_HUMAN E475G Disease K2C5_HUMAN E475K Disease K2C5_HUMAN I467T Disease K2C5_HUMAN M327T Disease K2C5_HUMAN K404E Disease K2C5_HUMAN P25L Disease K2C5_HUMAN P152L Disease K2C5_HUMAN M327K Disease K2C5_HUMAN N176S Disease K2C5_HUMAN L325P Disease K2C5_HUMAN S181P Disease K2C5_HUMAN D328V Disease K2C5_HUMAN A438D Disease K2C5_HUMAN D328H Disease K2C5_HUMAN V186L Disease K2C5_HUMAN N329K Disease K2C5_HUMAN K173N Disease K2C5_HUMAN F179S Disease CP4V2_HUMAN H331P Disease CP4V2_HUMAN W44R Disease CP4V2_HUMAN I111T Disease CP4V2_HUMAN E79D Disease CP4V2_HUMAN R508H Disease CP4V2_HUMAN S341P Disease CP4V2_HUMAN M123V Disease CP4V2_HUMAN G61S Disease LDB3_HUMAN S189L Disease LDB3_HUMAN D673N Disease LDB3_HUMAN V635I Polymorphism LDB3_HUMAN T206I Disease LDB3_HUMAN I345M Disease LDB3_HUMAN V55I Polymorphism NUP62_HUMAN A233S Polymorphism CI126_HUMAN T37A Polymorphism WDR23_HUMAN R207H Polymorphism DAX1_HUMAN Y380D Disease DAX1_HUMAN N440I Disease DAX1_HUMAN K382N Disease DAX1_HUMAN A300P Disease DAX1_HUMAN I439S Disease DAX1_HUMAN W291C Disease DAX1_HUMAN R425T Disease DAX1_HUMAN A300V Disease DAX1_HUMAN E377K Disease DAX1_HUMAN R267P Disease DAX1_HUMAN L295P Disease DAX1_HUMAN R425G Disease DAX1_HUMAN L466R Disease DAX1_HUMAN V385G Disease DAX1_HUMAN L381H Disease TRPV5_HUMAN A563T Polymorphism TRPV5_HUMAN A8V Polymorphism TRPV5_HUMAN L712F Polymorphism TRPV5_HUMAN R154H Polymorphism CDX1_HUMAN P130R Polymorphism APTX_HUMAN R213H Disease APTX_HUMAN W293R Disease APTX_HUMAN V277G Disease APTX_HUMAN D281G Disease APTX_HUMAN P220L Disease APTX_HUMAN K211Q Disease APTX_HUMAN A212V Disease APTX_HUMAN H215R Disease PAHX_HUMAN H220Y Disease PAHX_HUMAN Q176K Disease PAHX_HUMAN R245Q Disease PAHX_HUMAN H175R Disease PAHX_HUMAN G204S Disease PAHX_HUMAN P29S Disease PAHX_HUMAN D177G Disease PAHX_HUMAN F257S Disease PAHX_HUMAN N83Y Disease PAHX_HUMAN W193R Disease PAHX_HUMAN E197Q Disease PAHX_HUMAN R275Q Disease PAHX_HUMAN N269H Disease PAHX_HUMAN I199F Disease PAHX_HUMAN P173S Disease PAHX_HUMAN R275W Disease HEM2_HUMAN K59N Polymorphism HEM2_HUMAN V275M Disease HEM2_HUMAN V153M Disease HEM2_HUMAN A274T Disease HEM2_HUMAN R240W Disease HEM2_HUMAN G133R Disease PSYR_HUMAN I231L Polymorphism IRS2_HUMAN G882A Polymorphism IRS2_HUMAN G879S Polymorphism IRS2_HUMAN G1057D Polymorphism EPHB1_HUMAN R485S Polymorphism EPHB1_HUMAN G152R Polymorphism EPHB1_HUMAN M847T Polymorphism EPHB1_HUMAN R367G Polymorphism EPHB1_HUMAN T87S Polymorphism HES6_HUMAN R218Q Polymorphism MATN3_HUMAN P11S Polymorphism MATN3_HUMAN E134K Disease MATN3_HUMAN T303M Disease MATN3_HUMAN T120M Disease MATN3_HUMAN A128P Disease MATN3_HUMAN F105S Disease MATN3_HUMAN E252K Polymorphism MATN3_HUMAN A219D Disease MATN3_HUMAN I192N Disease MATN3_HUMAN C304S Disease MATN3_HUMAN V194D Disease MATN3_HUMAN R121W Disease EGF_HUMAN D257H Polymorphism EGF_HUMAN I708M Polymorphism EGF_HUMAN L1043F Polymorphism EGF_HUMAN M842T Polymorphism EGF_HUMAN V920E Polymorphism EGF_HUMAN D981E Polymorphism EGF_HUMAN S638R Polymorphism EGF_HUMAN R431K Polymorphism EGF_HUMAN G723R Polymorphism EGF_HUMAN S16R Polymorphism EGF_HUMAN D784V Polymorphism EGF_HUMAN A1084G Polymorphism A4GAT_HUMAN M37V Polymorphism A4GAT_HUMAN Q163R Polymorphism OTC_HUMAN D263G Disease OTC_HUMAN T264I Disease OTC_HUMAN N47I Disease OTC_HUMAN L101F Polymorphism OTC_HUMAN D263N Disease OTC_HUMAN Y183D Disease OTC_HUMAN Y183C Disease OTC_HUMAN G79E Disease OTC_HUMAN A209V Disease OTC_HUMAN H255P Disease OTC_HUMAN H302L Disease OTC_HUMAN W265L Disease OTC_HUMAN L45V Disease OTC_HUMAN L341P Disease OTC_HUMAN T242I Disease OTC_HUMAN H302Q Disease OTC_HUMAN H182L Disease OTC_HUMAN R26Q Disease OTC_HUMAN T262K Disease OTC_HUMAN H302Y Disease OTC_HUMAN Q216E Disease OTC_HUMAN L111P Polymorphism OTC_HUMAN A336S Disease OTC_HUMAN V337L Disease OTC_HUMAN M56T Disease OTC_HUMAN R94T Disease OTC_HUMAN L201P Disease OTC_HUMAN Y345D Disease OTC_HUMAN Y345C Disease OTC_HUMAN G39C Disease OTC_HUMAN L191F Disease OTC_HUMAN A102E Disease OTC_HUMAN S267R Disease OTC_HUMAN D196V Disease OTC_HUMAN D196Y Disease OTC_HUMAN G83R Disease OTC_HUMAN D175V Disease OTC_HUMAN G269E Disease OTC_HUMAN Q270R Polymorphism OTC_HUMAN L244Q Disease OTC_HUMAN H214Y Disease OTC_HUMAN G83D Disease OTC_HUMAN E326K Disease OTC_HUMAN S192R Disease OTC_HUMAN G50R Disease OTC_HUMAN H117R Disease OTC_HUMAN H117L Disease OTC_HUMAN L301F Disease OTC_HUMAN T333A Polymorphism OTC_HUMAN V339L Disease OTC_HUMAN S203C Disease OTC_HUMAN H168Q Disease OTC_HUMAN H168R Disease OTC_HUMAN L43F Polymorphism OTC_HUMAN T178M Disease OTC_HUMAN N198K Disease OTC_HUMAN L63P Disease OTC_HUMAN A208T Disease OTC_HUMAN R141P Disease OTC_HUMAN I172M Disease OTC_HUMAN M268T Disease OTC_HUMAN P220A Disease OTC_HUMAN L148F Disease OTC_HUMAN T44I Disease OTC_HUMAN G100D Disease OTC_HUMAN G188R Disease OTC_HUMAN G188V Disease OTC_HUMAN E181G Disease OTC_HUMAN S340P Disease OTC_HUMAN R277W Disease OTC_HUMAN L139S Disease OTC_HUMAN M206R Disease OTC_HUMAN R141Q Disease OTC_HUMAN G197R Disease OTC_HUMAN A174P Disease OTC_HUMAN P305H Disease OTC_HUMAN G197E Disease OTC_HUMAN L45P Disease OTC_HUMAN R320L Disease OTC_HUMAN M206I Disease OTC_HUMAN G162R Disease OTC_HUMAN T343K Disease OTC_HUMAN T93A Disease OTC_HUMAN R129H Disease OTC_HUMAN L304F Disease OTC_HUMAN M213K Disease OTC_HUMAN T247K Disease OTC_HUMAN K88N Disease OTC_HUMAN H202Y Disease OTC_HUMAN I159T Disease OTC_HUMAN N161S Disease OTC_HUMAN S60L Disease OTC_HUMAN R277Q Disease OTC_HUMAN C303Y Disease OTC_HUMAN P225T Disease OTC_HUMAN P225R Disease OTC_HUMAN R40H Disease OTC_HUMAN P225L Disease OTC_HUMAN E87K Disease OTC_HUMAN S90R Disease OTC_HUMAN R92Q Disease OTC_HUMAN G195R Disease OTC_HUMAN R330G Disease OTC_HUMAN K46R Polymorphism OTC_HUMAN I172F Disease OTC_HUMAN Q180H Disease OTC_HUMAN A140P Disease OTC_HUMAN T264A Disease OTC_HUMAN S207R Disease OTC_HUMAN R40C Disease OTC_HUMAN F354C Disease OTC_HUMAN D126G Disease OTC_HUMAN Y55D Disease OTC_HUMAN I160S Disease OTC_HUMAN Y176C Disease OTC_HUMAN C303R Disease OTC_HUMAN T125M Disease TNR8_HUMAN C273Y Polymorphism TNR8_HUMAN S402G Polymorphism ZN224_HUMAN K640E Polymorphism CF118_HUMAN I256M Polymorphism CF118_HUMAN V363L Polymorphism NDF1_HUMAN A45T Polymorphism NDF1_HUMAN R111L Disease COX1_HUMAN T10A Polymorphism COX1_HUMAN G224A Polymorphism COX1_HUMAN F305L Polymorphism COX1_HUMAN T415A Polymorphism COX1_HUMAN M273T Disease COX1_HUMAN F235S Polymorphism COX1_HUMAN F94C Polymorphism COX1_HUMAN I280T Disease COX1_HUMAN V155L Polymorphism CJ118_HUMAN Q271K Polymorphism CJ118_HUMAN T85I Polymorphism CJ118_HUMAN R179Q Polymorphism PROP1_HUMAN R120C Disease PROP1_HUMAN F117I Disease PROP1_HUMAN R73H Disease PROP1_HUMAN A142T Polymorphism PROP1_HUMAN R73C Disease NRIP1_HUMAN H221R Polymorphism NRIP1_HUMAN R448G Polymorphism NRIP1_HUMAN S803L Polymorphism NRIP1_HUMAN I441V Polymorphism NRIP1_HUMAN V1079F Polymorphism CO4A4_HUMAN A931T Polymorphism CO4A4_HUMAN E570Q Polymorphism CO4A4_HUMAN G897E Disease CO4A4_HUMAN P1572L Disease CO4A4_HUMAN P1402S Polymorphism CO4A4_HUMAN G1030V Disease CO4A4_HUMAN G1201S Disease CO4A4_HUMAN G545A Polymorphism CO4A4_HUMAN P482S Polymorphism CO4A4_HUMAN L1004P Polymorphism CUL2_HUMAN N109S Polymorphism CEP2_HUMAN R1441Q Polymorphism CEP2_HUMAN Q995H Polymorphism TNR25_HUMAN P254R Polymorphism TNR25_HUMAN R23Q Polymorphism TNR25_HUMAN D159G Polymorphism TNR25_HUMAN R370L Polymorphism TNR25_HUMAN R381H Polymorphism SLIT3_HUMAN R395Q Polymorphism SLIT3_HUMAN E994G Polymorphism LU_HUMAN Q581L Polymorphism LU_HUMAN M204K Polymorphism LU_HUMAN R282H Polymorphism LU_HUMAN V196I Polymorphism LU_HUMAN A539T Polymorphism LU_HUMAN R77H Polymorphism LU_HUMAN K451Q Polymorphism LU_HUMAN V381I Polymorphism TRFL_HUMAN A30T Polymorphism TRFL_HUMAN K48R Polymorphism TRFL_HUMAN I149T Polymorphism TRFL_HUMAN G423C Polymorphism TRFL_HUMAN E580D Polymorphism FAM3A_HUMAN C213W Polymorphism TFF1_HUMAN T32I Disease TFF1_HUMAN T32K Disease TFF1_HUMAN A34D Disease TFF1_HUMAN G55V Disease TFF1_HUMAN E37K Disease GLUC_HUMAN A115V Polymorphism HPPD_HUMAN V339L Polymorphism HPPD_HUMAN I266F Polymorphism HPPD_HUMAN A32T Polymorphism HPPD_HUMAN I334M Disease HPPD_HUMAN A267V Disease HPPD_HUMAN Y159C Disease TRIM5_HUMAN H43Y Polymorphism TRIM5_HUMAN R136Q Polymorphism K1C17_HUMAN L94P Disease K1C17_HUMAN Y97D Disease K1C17_HUMAN R93H Disease K1C17_HUMAN M87T Disease K1C17_HUMAN N91S Disease K1C17_HUMAN N91H Disease K1C17_HUMAN R93P Disease K1C17_HUMAN V101M Disease K1C17_HUMAN N91D Disease K1C17_HUMAN L98P Disease K1C17_HUMAN L94Q Disease K1C17_HUMAN R93C Disease PECA1_HUMAN L125V Polymorphism CRGB_HUMAN L110I Polymorphism CRGB_HUMAN S72I Polymorphism ERR3_HUMAN T50M Polymorphism O11A1_HUMAN A165T Polymorphism DDX58_HUMAN R7C Polymorphism DDX58_HUMAN D580E Polymorphism STAB1_HUMAN M2506T Polymorphism CXB2_HUMAN V95M Disease CXB2_HUMAN V84L Disease CXB2_HUMAN G59A Disease CXB2_HUMAN S17F Disease CXB2_HUMAN C202F Disease CXB2_HUMAN V178A Disease CXB2_HUMAN T123N Polymorphism CXB2_HUMAN I111T Polymorphism CXB2_HUMAN L90P Disease CXB2_HUMAN R165W Polymorphism CXB2_HUMAN I203T Polymorphism CXB2_HUMAN R184P Disease CXB2_HUMAN D159V Disease CXB2_HUMAN F83L Polymorphism CXB2_HUMAN W77R Disease CXB2_HUMAN M93I Disease CXB2_HUMAN A197S Disease CXB2_HUMAN R32H Disease CXB2_HUMAN C169Y Polymorphism CXB2_HUMAN D66H Disease CXB2_HUMAN M34T Polymorphism CXB2_HUMAN D50Y Disease CXB2_HUMAN F191L Polymorphism CXB2_HUMAN R127H Polymorphism CXB2_HUMAN G12R Disease CXB2_HUMAN R184Q Disease CXB2_HUMAN S113R Disease CXB2_HUMAN I203K Disease CXB2_HUMAN L214P Disease CXB2_HUMAN L79P Disease CXB2_HUMAN D50N Disease CXB2_HUMAN V37I Disease CXB2_HUMAN R143W Disease CXB2_HUMAN R143Q Disease CXB2_HUMAN G160S Polymorphism CXB2_HUMAN E129K Disease CXB2_HUMAN R75W Disease CXB2_HUMAN W44C Disease CXB2_HUMAN R75Q Disease CXB2_HUMAN V27I Polymorphism CXB2_HUMAN R32L Polymorphism CXB2_HUMAN Q80K Disease CXB2_HUMAN E114G Polymorphism LIPI_HUMAN D444E Polymorphism LIPI_HUMAN G364E Polymorphism LIPI_HUMAN E431K Polymorphism DSPP_HUMAN V18F Disease DSPP_HUMAN P17T Disease LHR2A_HUMAN R506K Polymorphism LHR2A_HUMAN H759R Polymorphism LHR2A_HUMAN S499I Polymorphism LHR2A_HUMAN R757C Polymorphism ZN571_HUMAN L573H Polymorphism ZN571_HUMAN H189Q Polymorphism ZN571_HUMAN E252D Polymorphism CHST5_HUMAN T297M Polymorphism CO9A2_HUMAN Q326W Disease CO9A2_HUMAN V581I Polymorphism CO9A2_HUMAN Q326R Polymorphism K1199_HUMAN P1169A Polymorphism K1199_HUMAN V1109I Polymorphism K1199_HUMAN H783R Polymorphism K1199_HUMAN R187C Disease K1199_HUMAN H783Y Disease K1199_HUMAN R187H Disease CD68_HUMAN K254Q Polymorphism CD68_HUMAN A340T Polymorphism CIAS1_HUMAN A439T Disease CIAS1_HUMAN V198M Disease CIAS1_HUMAN A439V Disease CIAS1_HUMAN H358R Disease CIAS1_HUMAN A352V Disease CIAS1_HUMAN G569R Disease CIAS1_HUMAN M662T Disease CIAS1_HUMAN T348M Disease CIAS1_HUMAN R260W Disease CIAS1_HUMAN F573S Disease CIAS1_HUMAN L305P Disease CIAS1_HUMAN T436N Disease CIAS1_HUMAN Y859C Disease CIAS1_HUMAN E627G Disease CIAS1_HUMAN D303N Disease CIAS1_HUMAN F309S Disease PYY_HUMAN T72R Polymorphism MMP21_HUMAN A95E Polymorphism MMP21_HUMAN E349G Polymorphism MMP21_HUMAN A191V Polymorphism MMP21_HUMAN P115Q Polymorphism MMP21_HUMAN A454V Polymorphism FA61A_HUMAN R448Q Polymorphism FBX6_HUMAN P201T Polymorphism FGF9_HUMAN I94V Polymorphism GPT_HUMAN I393V Polymorphism GPT_HUMAN Y170C Disease TPOR_HUMAN E168K Polymorphism TPOR_HUMAN A58V Polymorphism BFSP2_HUMAN R287W Disease CG031_HUMAN S187T Polymorphism CG031_HUMAN T158A Polymorphism CG031_HUMAN Y82C Polymorphism CG031_HUMAN H300R Polymorphism AL1A3_HUMAN M386V Polymorphism PMM2_HUMAN V231M Disease PMM2_HUMAN N216S Disease PMM2_HUMAN D217E Disease PMM2_HUMAN F183S Disease PMM2_HUMAN V44A Disease PMM2_HUMAN V67M Disease PMM2_HUMAN C241S Disease PMM2_HUMAN G15E Disease PMM2_HUMAN D65Y Disease PMM2_HUMAN A108V Disease PMM2_HUMAN G228C Disease PMM2_HUMAN I120T Disease PMM2_HUMAN C9Y Disease PMM2_HUMAN G208A Disease PMM2_HUMAN L104V Disease PMM2_HUMAN F119L Disease PMM2_HUMAN N216I Disease PMM2_HUMAN R238P Disease PMM2_HUMAN F144L Disease PMM2_HUMAN T237R Disease PMM2_HUMAN G42R Polymorphism PMM2_HUMAN G176V Disease PMM2_HUMAN A233T Disease PMM2_HUMAN Q37H Disease PMM2_HUMAN F172V Disease PMM2_HUMAN Q37L Polymorphism PMM2_HUMAN I132T Disease PMM2_HUMAN I132N Disease PMM2_HUMAN P20S Disease PMM2_HUMAN E93A Disease PMM2_HUMAN Y76C Disease PMM2_HUMAN I132F Disease PMM2_HUMAN V44L Disease PMM2_HUMAN E197A Disease PMM2_HUMAN Y229S Disease PMM2_HUMAN D223E Disease PMM2_HUMAN Y106C Disease PMM2_HUMAN R162W Disease PMM2_HUMAN F206S Disease PMM2_HUMAN R123Q Disease PMM2_HUMAN M212V Polymorphism PMM2_HUMAN D185G Disease PMM2_HUMAN H195R Disease PMM2_HUMAN R238G Disease PMM2_HUMAN G228R Disease PMM2_HUMAN N101K Disease PMM2_HUMAN C192G Disease PMM2_HUMAN Y64C Disease PMM2_HUMAN P69S Disease PMM2_HUMAN D148N Disease PMM2_HUMAN F11C Disease PMM2_HUMAN E151G Disease PMM2_HUMAN V129M Disease PMM2_HUMAN Q177H Disease PMM2_HUMAN G175R Disease PMM2_HUMAN P113L Disease PMM2_HUMAN I153T Disease PMM2_HUMAN E139K Disease PMM2_HUMAN T237M Disease PMM2_HUMAN P131A Disease PMM2_HUMAN T226S Disease PMM2_HUMAN D188G Disease PMM2_HUMAN R141C Disease PMM2_HUMAN C103F Disease PMM2_HUMAN L32R Disease PMM2_HUMAN H218L Disease PMM2_HUMAN G117R Disease PMM2_HUMAN R141H Disease PMM2_HUMAN D223N Disease PMM2_HUMAN G214S Disease PMM2_HUMAN F157S Disease RA54B_HUMAN N593S Disease RA54B_HUMAN D418Y Disease TMC1_HUMAN D572N Disease TMC1_HUMAN M654V Disease FA9_HUMAN R46T Disease FA9_HUMAN R294G Disease FA9_HUMAN E66V Disease FA9_HUMAN R46S Disease FA9_HUMAN E54G Disease FA9_HUMAN R294Q Disease FA9_HUMAN V228F Disease FA9_HUMAN C170F Disease FA9_HUMAN S169C Disease FA9_HUMAN R226Q Disease FA9_HUMAN E433A Disease FA9_HUMAN G357R Disease FA9_HUMAN D110N Disease FA9_HUMAN A279T Disease FA9_HUMAN E79D Disease FA9_HUMAN H302R Disease FA9_HUMAN S430T Disease FA9_HUMAN N113K Disease FA9_HUMAN G58R Disease FA9_HUMAN C119R Disease FA9_HUMAN E433K Disease FA9_HUMAN C119F Disease FA9_HUMAN E67K Disease FA9_HUMAN W356C Disease FA9_HUMAN C134Y Disease FA9_HUMAN V419E Disease FA9_HUMAN E291V Disease FA9_HUMAN C108S Disease FA9_HUMAN G125E Disease FA9_HUMAN P414T Disease FA9_HUMAN R191H Disease FA9_HUMAN L52S Disease FA9_HUMAN S411I Disease FA9_HUMAN I443T Disease FA9_HUMAN R191C Disease FA9_HUMAN G125R Disease FA9_HUMAN S411G Disease FA9_HUMAN G125V Disease FA9_HUMAN V30I Disease FA9_HUMAN G442E Disease FA9_HUMAN R226G Disease FA9_HUMAN C407S Disease FA9_HUMAN C407R Disease FA9_HUMAN Y91C Disease FA9_HUMAN R226W Disease FA9_HUMAN D93G Disease FA9_HUMAN I112S Disease FA9_HUMAN S49P Disease FA9_HUMAN F71S Disease FA9_HUMAN K362E Disease FA9_HUMAN R449Q Disease FA9_HUMAN L383F Disease FA9_HUMAN A265T Disease FA9_HUMAN C97S Disease FA9_HUMAN W431R Disease FA9_HUMAN N283D Disease FA9_HUMAN G139D Disease FA9_HUMAN P101R Disease FA9_HUMAN Q241H Disease FA9_HUMAN Q241K Disease FA9_HUMAN R379Q Disease FA9_HUMAN C435Y Disease FA9_HUMAN Q167H Disease FA9_HUMAN G139S Disease FA9_HUMAN D410H Disease FA9_HUMAN Y115C Disease FA9_HUMAN I316F Disease FA9_HUMAN G58A Disease FA9_HUMAN F55C Disease FA9_HUMAN Q96P Disease FA9_HUMAN K387E Disease FA9_HUMAN A366D Disease FA9_HUMAN G253R Disease FA9_HUMAN G351D Disease FA9_HUMAN K45N Disease FA9_HUMAN C268W Disease FA9_HUMAN G413R Disease FA9_HUMAN G253E Disease FA9_HUMAN C396F Disease FA9_HUMAN I136T Disease FA9_HUMAN T342M Disease FA9_HUMAN T342K Disease FA9_HUMAN C252Y Disease FA9_HUMAN N48I Disease FA9_HUMAN C252S Disease FA9_HUMAN C102R Disease FA9_HUMAN R449W Disease FA9_HUMAN T84R Disease FA9_HUMAN E73V Disease FA9_HUMAN C28Y Disease FA9_HUMAN E124K Disease FA9_HUMAN G412E Disease FA9_HUMAN C28R Disease FA9_HUMAN F424V Disease FA9_HUMAN C396S Disease FA9_HUMAN E53A Disease FA9_HUMAN R404T Disease FA9_HUMAN W453R Disease FA9_HUMAN G432V Disease FA9_HUMAN T461P Polymorphism FA9_HUMAN E73K Disease FA9_HUMAN L321Q Disease FA9_HUMAN G363W Disease FA9_HUMAN R75Q Disease FA9_HUMAN C178R Disease FA9_HUMAN L318R Disease FA9_HUMAN C178W Disease FA9_HUMAN N306S Disease FA9_HUMAN I7F Polymorphism FA9_HUMAN C382Y Disease FA9_HUMAN T194A Polymorphism FA9_HUMAN G442R Disease FA9_HUMAN I390F Disease FA9_HUMAN G357E Disease FA9_HUMAN W431G Disease FA9_HUMAN G106S Disease FA9_HUMAN R379G Disease FA9_HUMAN F395L Disease FA9_HUMAN I344L Disease FA9_HUMAN F395I Disease FA9_HUMAN Y450C Disease FA9_HUMAN L383I Disease FA9_HUMAN I454T Disease FA9_HUMAN P333T Disease FA9_HUMAN R43Q Disease FA9_HUMAN R43W Disease FA9_HUMAN T426P Disease FA9_HUMAN A436V Disease FA9_HUMAN R43L Disease FA9_HUMAN P333H Disease FA9_HUMAN C155F Disease FA9_HUMAN G432S Disease FA9_HUMAN I17N Disease FA9_HUMAN G106D Disease FA9_HUMAN V227F Disease FA9_HUMAN A397P Disease FA9_HUMAN V227D Disease FA9_HUMAN V228L Disease FA9_HUMAN G160E Disease FA9_HUMAN M394K Disease CD45_HUMAN S1283R Polymorphism TAP2_HUMAN T665A Polymorphism TAP2_HUMAN A513S Polymorphism TAP2_HUMAN A565T Polymorphism TAP2_HUMAN R651C Polymorphism TAP2_HUMAN V467I Polymorphism TAP2_HUMAN M577V Polymorphism TAP2_HUMAN A374T Polymorphism TAP2_HUMAN V379I Polymorphism HGF_HUMAN S153I Polymorphism HGF_HUMAN D330Y Polymorphism HGF_HUMAN E304K Polymorphism CP11A_HUMAN A189V Disease CP11A_HUMAN R353W Disease CP11A_HUMAN E314K Polymorphism Y0040_HUMAN Q26K Polymorphism I17RC_HUMAN L182S Polymorphism UB2E3_HUMAN W201R Polymorphism GCKR_HUMAN R540Q Polymorphism GCKR_HUMAN P446L Polymorphism GCKR_HUMAN G256S Polymorphism GCKR_HUMAN E77G Polymorphism ZBT39_HUMAN P689A Polymorphism UBP16_HUMAN Q141H Polymorphism MYPR_HUMAN L209H Disease MYPR_HUMAN R204G Disease MYPR_HUMAN C219Y Disease MYPR_HUMAN D202E Disease MYPR_HUMAN T155I Disease MYPR_HUMAN D202G Disease MYPR_HUMAN D202H Disease MYPR_HUMAN D202N Disease MYPR_HUMAN H147Y Disease MYPR_HUMAN C34Y Disease MYPR_HUMAN D202V Disease MYPR_HUMAN A241P Disease MYPR_HUMAN S169F Disease MYPR_HUMAN G245E Disease MYPR_HUMAN F31V Disease MYPR_HUMAN A247E Disease MYPR_HUMAN C168R Disease MYPR_HUMAN A38T Disease MYPR_HUMAN G220C Disease MYPR_HUMAN P14L Disease MYPR_HUMAN W211R Disease MYPR_HUMAN Y206C Disease MYPR_HUMAN P210L Disease MYPR_HUMAN H129Y Disease MYPR_HUMAN Q233P Disease MYPR_HUMAN F31L Disease MYPR_HUMAN H139Y Disease MYPR_HUMAN V208D Disease MYPR_HUMAN L30P Disease MYPR_HUMAN Y59C Disease MYPR_HUMAN T181P Disease MYPR_HUMAN V218F Disease MYPR_HUMAN T42I Disease MYPR_HUMAN F50S Disease MYPR_HUMAN L45R Disease MYPR_HUMAN T182N Disease MYPR_HUMAN F236S Disease MYPR_HUMAN C227Y Disease MYPR_HUMAN P215S Disease MYPR_HUMAN V165E Disease MYPR_HUMAN G73R Disease MYPR_HUMAN T115K Disease MYPR_HUMAN W180C Disease MYPR_HUMAN S225P Disease MYPR_HUMAN A248P Disease MYPR_HUMAN W162R Disease MYPR_HUMAN P215A Disease MYPR_HUMAN V171A Disease MYPR_HUMAN K150N Disease MYPR_HUMAN S252F Disease MYPR_HUMAN G216S Disease MYPR_HUMAN Y174C Disease MYPR_HUMAN L223P Disease MYPR_HUMAN I186T Disease NPC1_HUMAN L1213V Disease NPC1_HUMAN R958Q Disease NPC1_HUMAN V889M Disease NPC1_HUMAN R1186H Disease NPC1_HUMAN L1213F Disease NPC1_HUMAN I858V Polymorphism NPC1_HUMAN R934Q Disease NPC1_HUMAN V757A Polymorphism NPC1_HUMAN C177Y Disease NPC1_HUMAN P1007A Disease NPC1_HUMAN R978C Disease NPC1_HUMAN F1167L Disease NPC1_HUMAN P237S Disease NPC1_HUMAN Y1088C Disease NPC1_HUMAN C177G Disease NPC1_HUMAN D948N Disease NPC1_HUMAN I1220T Polymorphism NPC1_HUMAN S954L Disease NPC1_HUMAN S940L Disease NPC1_HUMAN N1156S Disease NPC1_HUMAN G333D Polymorphism NPC1_HUMAN C956Y Disease NPC1_HUMAN G992R Disease NPC1_HUMAN S473P Disease NPC1_HUMAN G992W Disease NPC1_HUMAN H215R Polymorphism NPC1_HUMAN L472P Polymorphism NPC1_HUMAN Q928P Disease NPC1_HUMAN H510P Disease NPC1_HUMAN R518Q Disease NPC1_HUMAN V950M Disease NPC1_HUMAN R1266Q Polymorphism NPC1_HUMAN A1035V Disease NPC1_HUMAN T1036M Disease NPC1_HUMAN V378A Disease NPC1_HUMAN M642I Polymorphism NPC1_HUMAN I1061T Disease CAV1_HUMAN P131L Disease NCTR2_HUMAN P139S Polymorphism NCTR2_HUMAN I218K Polymorphism NCTR2_HUMAN M75V Polymorphism NCTR2_HUMAN V223M Polymorphism BCL10_HUMAN T168A Disease BCL10_HUMAN V230I Disease BCL10_HUMAN V16E Disease BCL10_HUMAN S134P Disease BCL10_HUMAN D101E Disease BCL10_HUMAN L174S Disease BCL10_HUMAN R58G Disease BCL10_HUMAN A5S Disease BCL10_HUMAN R64K Disease BCL10_HUMAN K31E Disease BCL10_HUMAN S218F Disease BCL10_HUMAN G213E Disease BCL10_HUMAN C57R Disease ACDSB_HUMAN L255F Disease ACDSB_HUMAN S209G Polymorphism FETA_HUMAN A570G Polymorphism ADH4_HUMAN I373V Polymorphism ADH4_HUMAN R317H Polymorphism ADH4_HUMAN V308I Polymorphism SH3K1_HUMAN P382L Polymorphism GPR8_HUMAN R206Q Polymorphism ANKH_HUMAN P5L Disease ANKH_HUMAN G389R Disease ANKH_HUMAN C331R Disease ANKH_HUMAN M48T Disease ANKH_HUMAN P5T Disease ANKH_HUMAN W292R Disease IFN17_HUMAN I184R Polymorphism IFNA4_HUMAN A74T Polymorphism IFNA4_HUMAN E137V Polymorphism GATA4_HUMAN G296S Disease AMRP_HUMAN V311M Polymorphism FIBG_HUMAN M410V Polymorphism FIBG_HUMAN G191R Polymorphism TRBM_HUMAN P495S Polymorphism TRBM_HUMAN P501L Polymorphism TRBM_HUMAN D486Y Disease TRBM_HUMAN A43T Polymorphism TRBM_HUMAN G79A Polymorphism TRBM_HUMAN A473V Polymorphism ICAM2_HUMAN R199H Polymorphism ICAM2_HUMAN R256Q Polymorphism ICAM2_HUMAN A37T Polymorphism GALT6_HUMAN V423I Polymorphism ASB2_HUMAN P160S Polymorphism PRKN2_HUMAN R366W Polymorphism PRKN2_HUMAN A92V Disease PRKN2_HUMAN R42P Disease PRKN2_HUMAN C212Y Disease PRKN2_HUMAN V15M Disease PRKN2_HUMAN M192V Disease PRKN2_HUMAN V380L Polymorphism PRKN2_HUMAN T415N Disease PRKN2_HUMAN C289G Disease PRKN2_HUMAN G328E Disease PRKN2_HUMAN D280N Disease PRKN2_HUMAN K211R Disease PRKN2_HUMAN K211N Disease PRKN2_HUMAN T240M Disease PRKN2_HUMAN S167N Polymorphism PRKN2_HUMAN G430D Disease PRKN2_HUMAN R334C Disease PRKN2_HUMAN C253Y Disease PRKN2_HUMAN A82E Disease PRKN2_HUMAN R256C Disease PRKN2_HUMAN R271S Polymorphism PRKN2_HUMAN P437L Disease PRKN2_HUMAN R275W Disease PRKN2_HUMAN R33Q Disease PRKN2_HUMAN K161N Disease PRKN2_HUMAN D394N Polymorphism PRKN2_HUMAN A339S Polymorphism PRKN2_HUMAN A46P Disease PRKN2_HUMAN G284R Disease PRKN2_HUMAN P37L Disease PRKN2_HUMAN C431F Disease PRKN2_HUMAN T240R Disease PRKN2_HUMAN Q100H Polymorphism PRKN2_HUMAN T351P Disease PRKN2_HUMAN C441R Disease LIMD1_HUMAN G415R Polymorphism GEMI4_HUMAN R1033C Polymorphism GEMI4_HUMAN R684Q Polymorphism PERM_HUMAN V53F Polymorphism PERM_HUMAN R604C Polymorphism PERM_HUMAN I717V Polymorphism PERM_HUMAN Y173C Disease PERM_HUMAN M251T Disease PERM_HUMAN E683Q Polymorphism PERM_HUMAN R569W Disease ADPN_HUMAN C99G Polymorphism ADPN_HUMAN G115C Polymorphism ADPN_HUMAN I148M Polymorphism ADPN_HUMAN K434E Polymorphism TTP_HUMAN I259F Polymorphism TTP_HUMAN P37S Polymorphism TTP_HUMAN V324F Polymorphism LACTB_HUMAN R469K Polymorphism KLK15_HUMAN P134L Polymorphism MGST3_HUMAN P48S Polymorphism MGST3_HUMAN G15C Polymorphism KISSR_HUMAN C223R Disease KISSR_HUMAN H364L Polymorphism KISSR_HUMAN L148S Disease KISSR_HUMAN R297L Disease ARHG3_HUMAN L335V Polymorphism ARHG3_HUMAN K13R Polymorphism CD008_HUMAN M192V Polymorphism DHSB_HUMAN R242H Disease DHSB_HUMAN L87S Disease PCDA3_HUMAN C759Y Polymorphism PCDA3_HUMAN I318V Polymorphism UCP3_HUMAN V102I Polymorphism GHC1_HUMAN P206L Disease RFA2_HUMAN Y14S Polymorphism RFA2_HUMAN G15R Polymorphism RFA2_HUMAN N203S Polymorphism AL1A1_HUMAN I176F Polymorphism PEX1_HUMAN L664P Disease PEX1_HUMAN G843D Disease DNL1_HUMAN R62W Polymorphism DNL1_HUMAN T614I Polymorphism DNL1_HUMAN D72G Polymorphism DNL1_HUMAN A24V Polymorphism DNL1_HUMAN V349M Polymorphism DNL1_HUMAN G249E Polymorphism DNL1_HUMAN N267S Polymorphism DNL1_HUMAN V369I Polymorphism DNL1_HUMAN P52L Polymorphism DNL1_HUMAN R409H Polymorphism DNL1_HUMAN M480V Polymorphism DNL1_HUMAN R677L Polymorphism 5HT1A_HUMAN G22S Polymorphism 5HT1A_HUMAN P184L Polymorphism 5HT1A_HUMAN P16L Polymorphism 5HT1A_HUMAN R220L Polymorphism 5HT1A_HUMAN I28V Polymorphism 5HT1A_HUMAN G273D Polymorphism VNN2_HUMAN M404L Polymorphism DP13B_HUMAN V433A Polymorphism ADT1_HUMAN D103G Disease ADT1_HUMAN V288M Disease ADT1_HUMAN L97P Disease ADT1_HUMAN A113P Disease DNS2A_HUMAN R314L Polymorphism ECHM_HUMAN T75I Polymorphism ECHM_HUMAN V11A Polymorphism STTP1_HUMAN E795G Polymorphism STTP1_HUMAN H359R Polymorphism STTP1_HUMAN T128P Polymorphism STTP1_HUMAN V305M Polymorphism STTP1_HUMAN H806P Polymorphism LRRC1_HUMAN I193V Polymorphism 5NTD_HUMAN T376A Polymorphism ARFG3_HUMAN S355R Polymorphism CSH_HUMAN P3A Polymorphism HXD10_HUMAN M319K Disease TMEM1_HUMAN V257E Polymorphism TMEM1_HUMAN V726M Polymorphism TMEM1_HUMAN I633M Polymorphism TMPS2_HUMAN K449N Polymorphism UPAR_HUMAN K220R Polymorphism UPAR_HUMAN T86A Polymorphism UPAR_HUMAN N281K Polymorphism UPAR_HUMAN E55G Polymorphism UPAR_HUMAN L317P Polymorphism UPAR_HUMAN R105Q Polymorphism CRUM1_HUMAN N986I Disease CRUM1_HUMAN G1103R Disease CRUM1_HUMAN C1218F Disease CRUM1_HUMAN C195F Disease CRUM1_HUMAN T745M Disease CRUM1_HUMAN G846R Disease CRUM1_HUMAN L1107R Disease CRUM1_HUMAN C1321S Disease CRUM1_HUMAN C948Y Disease CRUM1_HUMAN C587Y Disease CRUM1_HUMAN C250W Disease CRUM1_HUMAN V578E Disease CRUM1_HUMAN L1071P Disease CRUM1_HUMAN I205T Polymorphism CRUM1_HUMAN C891G Disease CRUM1_HUMAN R905Q Polymorphism CRUM1_HUMAN C681Y Disease CRUM1_HUMAN P836T Disease CRUM1_HUMAN V162M Disease CRUM1_HUMAN F144V Disease CRUM1_HUMAN A1354T Disease CRUM1_HUMAN C480R Disease CRUM1_HUMAN R764C Disease CRUM1_HUMAN R1383H Disease CRUM1_HUMAN Y433C Disease CRUM1_HUMAN S1025I Disease CRUM1_HUMAN C383Y Disease CRUM1_HUMAN D837H Disease CRUM1_HUMAN C480G Disease CRUM1_HUMAN M1041T Disease CRUM1_HUMAN N1317H Disease CRUM1_HUMAN N894S Disease CRUM1_HUMAN E710Q Disease CRUM1_HUMAN A161V Disease CRUM1_HUMAN I1100R Disease CRUM1_HUMAN I852T Disease CRUM1_HUMAN G850S Disease CRUM1_HUMAN T289M Polymorphism CRUM1_HUMAN R769Q Polymorphism CRUM1_HUMAN I1100T Disease CRUM1_HUMAN G959S Disease CRUM1_HUMAN M741T Disease CRUM1_HUMAN C1181R Disease CRUM1_HUMAN R1331H Polymorphism CRUM1_HUMAN Q679E Polymorphism CRUM1_HUMAN G1205R Disease CRUM1_HUMAN I989T Disease CRUM1_HUMAN D584Y Disease CRUM1_HUMAN L1107P Disease CRUM1_HUMAN R769H Polymorphism BMP4_HUMAN V152A Polymorphism FA12_HUMAN G545D Polymorphism FA12_HUMAN P207A Polymorphism FA12_HUMAN Y605H Polymorphism PROS_HUMAN T78M Polymorphism PROS_HUMAN I559M Polymorphism PROS_HUMAN R561G Disease PROS_HUMAN K196E Disease PROS_HUMAN Y485C Disease PROS_HUMAN G482C Disease PROS_HUMAN N258S Disease MBD1_HUMAN P401A Polymorphism CARD4_HUMAN E266K Polymorphism FYN_HUMAN I444F Polymorphism ROR2_HUMAN V819I Polymorphism ROR2_HUMAN R366W Disease ROR2_HUMAN N620K Disease ROR2_HUMAN A245T Polymorphism ROR2_HUMAN R189W Disease ROR2_HUMAN C182Y Disease ROR2_HUMAN R184C Disease PAFA_HUMAN R92H Polymorphism PAFA_HUMAN Q281R Disease PAFA_HUMAN V379A Polymorphism PAFA_HUMAN I198T Polymorphism PAFA_HUMAN V279F Disease DGKG_HUMAN R370W Polymorphism DGKG_HUMAN T142S Polymorphism K1C16_HUMAN N124S Disease K1C16_HUMAN L127Q Disease K1C16_HUMAN K353N Disease K1C16_HUMAN L131P Disease K1C16_HUMAN L123R Disease K1C16_HUMAN R126C Disease K1C16_HUMAN M120T Disease K1C16_HUMAN Q121P Disease K1C16_HUMAN R126P Disease GSTM1_HUMAN K172N Polymorphism GSTM1_HUMAN S209T Polymorphism NCOA1_HUMAN A685E Polymorphism NCOA1_HUMAN F999S Polymorphism NCOA1_HUMAN T591I Polymorphism NCOA1_HUMAN K466N Polymorphism NCOA1_HUMAN K457Q Polymorphism NCOA1_HUMAN P794A Polymorphism NCOA1_HUMAN T1154M Polymorphism NCOA1_HUMAN P474S Polymorphism MCFD2_HUMAN D129E Disease MCFD2_HUMAN I136T Disease SATT_HUMAN G37R Polymorphism SATT_HUMAN V399I Polymorphism ALG9_HUMAN P506L Polymorphism ALG9_HUMAN V289I Polymorphism GCP2_HUMAN A111T Polymorphism APG10_HUMAN P220H Polymorphism APG10_HUMAN T212M Polymorphism VDAC2_HUMAN A39V Polymorphism VDAC2_HUMAN W90C Polymorphism MUCDL_HUMAN D389N Polymorphism MUCDL_HUMAN S357R Polymorphism PROC_HUMAN R211W Disease PROC_HUMAN G418D Disease PROC_HUMAN P369L Disease PROC_HUMAN P321L Disease PROC_HUMAN R220Q Disease PROC_HUMAN G324R Disease PROC_HUMAN R220W Disease PROC_HUMAN E62A Disease PROC_HUMAN R272C Disease PROC_HUMAN G109R Disease PROC_HUMAN A388T Disease PROC_HUMAN I445M Disease PROC_HUMAN A388V Disease PROC_HUMAN G392R Disease PROC_HUMAN G423S Disease PROC_HUMAN E49D Disease PROC_HUMAN A301V Disease PROC_HUMAN A309T Disease PROC_HUMAN R42C Disease PROC_HUMAN C183R Disease PROC_HUMAN G433S Disease PROC_HUMAN D401N Disease PROC_HUMAN G343D Disease PROC_HUMAN S161R Disease PROC_HUMAN M385I Disease PROC_HUMAN R189W Disease PROC_HUMAN T436N Disease PROC_HUMAN R32C Disease PROC_HUMAN V76M Disease PROC_HUMAN G334S Disease PROC_HUMAN C147Y Disease PROC_HUMAN P210L Disease PROC_HUMAN C426Y Disease PROC_HUMAN T340M Disease PROC_HUMAN H253Q Disease PROC_HUMAN G89C Disease PROC_HUMAN G114R Disease PROC_HUMAN N298D Disease PROC_HUMAN G145R Disease PROC_HUMAN R220P Disease PROC_HUMAN A178P Disease PROC_HUMAN R38W Disease PROC_HUMAN R211Q Disease PROC_HUMAN R57Q Disease PROC_HUMAN I243T Disease PROC_HUMAN V367A Disease PROC_HUMAN H244Y Disease PROC_HUMAN R271W Disease PROC_HUMAN H108N Disease PROC_HUMAN A301T Disease PROC_HUMAN R194C Disease PROC_HUMAN R57G Disease PROC_HUMAN F118L Disease PROC_HUMAN R328H Disease PROC_HUMAN R42H Disease PROC_HUMAN Q226H Disease PROC_HUMAN P289L Disease PROC_HUMAN S312P Disease PROC_HUMAN H149P Disease PROC_HUMAN R328C Disease PROC_HUMAN R394W Disease PROC_HUMAN W444C Disease PROC_HUMAN R51C Disease PROC_HUMAN Y441H Disease PROC_HUMAN A43T Polymorphism PROC_HUMAN S312L Disease PROC_HUMAN R57W Disease PROC_HUMAN L265F Disease PROC_HUMAN R271Q Disease PROC_HUMAN W14G Disease PROC_HUMAN S294N Disease K1C9_HUMAN N161K Disease K1C9_HUMAN M157V Disease K1C9_HUMAN M157T Disease K1C9_HUMAN N161Y Disease K1C9_HUMAN L160V Disease K1C9_HUMAN Q172P Disease K1C9_HUMAN N161S Disease K1C9_HUMAN R163W Disease K1C9_HUMAN R163Q Disease K1C9_HUMAN L168S Disease ENP4_HUMAN K354E Polymorphism FEZ1_HUMAN D123E Polymorphism GALT5_HUMAN P77L Polymorphism GALT5_HUMAN Q489H Polymorphism AT8A1_HUMAN T673M Polymorphism USP9Y_HUMAN T1060A Polymorphism RTP2_HUMAN Q82R Polymorphism K2C6B_HUMAN S20N Polymorphism K2C6B_HUMAN V364I Polymorphism K2C6B_HUMAN S226N Polymorphism K2C6B_HUMAN E471K Disease K2C6A_HUMAN F173V Disease K2C6A_HUMAN L468R Disease K2C6A_HUMAN E471K Disease K2C6A_HUMAN N20S Polymorphism FGF13_HUMAN K197Q Polymorphism MRP6_HUMAN I1424T Disease MRP6_HUMAN F568S Disease MRP6_HUMAN G61D Polymorphism MRP6_HUMAN G1302R Disease MRP6_HUMAN W64R Polymorphism MRP6_HUMAN R265G Polymorphism MRP6_HUMAN N497K Polymorphism MRP6_HUMAN N411K Disease MRP6_HUMAN R1314Q Disease MRP6_HUMAN G1354R Disease MRP6_HUMAN R1314W Disease MRP6_HUMAN T1301I Disease MRP6_HUMAN L953H Polymorphism MRP6_HUMAN I319V Polymorphism MRP6_HUMAN R1138Q Disease MRP6_HUMAN R1138P Disease MRP6_HUMAN R1138W Disease MRP6_HUMAN R1114P Disease MRP6_HUMAN R1268Q Polymorphism MRP6_HUMAN L673P Disease MRP6_HUMAN D1361N Disease MRP6_HUMAN K281E Polymorphism MRP6_HUMAN R518Q Disease MRP6_HUMAN A455P Disease MRP6_HUMAN A1303P Disease MRP6_HUMAN V614A Polymorphism MRP6_HUMAN H632Q Polymorphism MRP6_HUMAN G1321S Disease MRP6_HUMAN W1241C Polymorphism MRP6_HUMAN G1203D Disease MRP6_HUMAN R765Q Disease MRP6_HUMAN R1339C Disease MRP6_HUMAN Q1347H Disease MRP6_HUMAN S1121W Disease MRP6_HUMAN V1298F Disease MRP6_HUMAN T364R Disease MRP6_HUMAN G207R Polymorphism E2F1_HUMAN G393S Polymorphism E2F1_HUMAN V276M Polymorphism E2F1_HUMAN T311N Polymorphism E2F1_HUMAN R252H Polymorphism GLRA1_HUMAN Q294H Disease GLRA1_HUMAN R299L Disease GLRA1_HUMAN R299Q Disease GLRA1_HUMAN I272N Disease GLRA1_HUMAN P278T Disease GLRA1_HUMAN K304E Disease GLRA1_HUMAN R280H Disease GLRA1_HUMAN Y307C Disease GLRA1_HUMAN R420H Disease NMDE1_HUMAN K270E Polymorphism IBP4_HUMAN V42G Polymorphism ATBF1_HUMAN A3374V Polymorphism ATBF1_HUMAN E460Q Polymorphism K1279_HUMAN G66S Polymorphism DPOG1_HUMAN R309L Disease DPOG1_HUMAN T251I Disease DPOG1_HUMAN N864S Disease DPOG1_HUMAN W748S Disease DPOG1_HUMAN Q1236H Polymorphism DPOG1_HUMAN G431V Disease DPOG1_HUMAN L304R Disease DPOG1_HUMAN R1096C Disease DPOG1_HUMAN H932Y Disease DPOG1_HUMAN R579W Disease DPOG1_HUMAN V1106I Disease DPOG1_HUMAN E662K Polymorphism DPOG1_HUMAN A957S Disease DPOG1_HUMAN R1047Q Disease DPOG1_HUMAN P18S Polymorphism DPOG1_HUMAN R193Q Polymorphism DPOG1_HUMAN R627W Disease DPOG1_HUMAN G923D Disease DPOG1_HUMAN W312R Disease DPOG1_HUMAN A889T Disease DPOG1_HUMAN A1105T Disease DPOG1_HUMAN P587L Disease DPOG1_HUMAN R546C Polymorphism DPOG1_HUMAN R953C Disease DPOG1_HUMAN G1076V Disease DPOG1_HUMAN Y955C Disease DPOG1_HUMAN P324S Polymorphism DPOG1_HUMAN R3P Disease DPOG1_HUMAN G848S Disease DPOG1_HUMAN R943H Disease DPOG1_HUMAN G1051R Disease DPOG1_HUMAN A467T Disease DPOG1_HUMAN E1143G Polymorphism DPOG1_HUMAN Y831C Disease DPOG1_HUMAN N468D Disease DPOG1_HUMAN R227W Disease DPOG1_HUMAN S1104C Disease DPOG1_HUMAN R1146C Polymorphism DPOG1_HUMAN S1176L Disease DPOG1_HUMAN R1142W Polymorphism CP3A4_HUMAN P217R Polymorphism CP3A4_HUMAN T362M Polymorphism CP3A4_HUMAN M444T Polymorphism CP3A4_HUMAN L292P Polymorphism CP3A4_HUMAN T184S Polymorphism CP3A4_HUMAN S221P Polymorphism CP3A4_HUMAN L372F Polymorphism CP3A4_HUMAN R129Q Polymorphism CP3A4_HUMAN D173H Polymorphism CP3A4_HUMAN L14P Polymorphism CP3A4_HUMAN F188S Polymorphism CP3A4_HUMAN V169I Polymorphism CP3A4_HUMAN P415L Polymorphism CP3A4_HUMAN R161Q Polymorphism CP3A4_HUMAN I117V Polymorphism CP3A4_HUMAN P466S Polymorphism CP3A4_HUMAN G55D Polymorphism CP3A7_HUMAN T409R Polymorphism AHR_HUMAN M786V Polymorphism AHR_HUMAN R554K Polymorphism AHR_HUMAN V570I Polymorphism AHR_HUMAN P517S Polymorphism ELK1_HUMAN G144S Polymorphism ELK1_HUMAN S183N Polymorphism DCR1A_HUMAN I859F Polymorphism DCR1A_HUMAN G71D Polymorphism DCR1A_HUMAN K58E Polymorphism DCR1A_HUMAN P287L Polymorphism DCR1A_HUMAN H317D Polymorphism DCR1A_HUMAN E59D Polymorphism UD11_HUMAN P229Q Disease UD11_HUMAN G276R Disease UD11_HUMAN L15R Disease UD11_HUMAN C177R Disease UD11_HUMAN Y486D Disease UD11_HUMAN N400D Disease UD11_HUMAN Q331R Disease UD11_HUMAN G71R Disease UD11_HUMAN L175Q Disease UD11_HUMAN R209W Disease UD11_HUMAN R367G Disease UD11_HUMAN S375F Disease UD11_HUMAN A292V Disease UD11_HUMAN G308E Disease UD11_HUMAN Q357R Disease UD11_HUMAN A368T Disease UD11_HUMAN K428E Disease UD11_HUMAN S381R Disease UD11_HUMAN A401P Disease ANR10_HUMAN P320L Polymorphism POLI_HUMAN I236M Polymorphism POLI_HUMAN E251K Polymorphism POLI_HUMAN T706A Polymorphism POLI_HUMAN H449R Polymorphism POLI_HUMAN R71G Polymorphism POLI_HUMAN C535R Polymorphism POLI_HUMAN F507S Polymorphism NF2L2_HUMAN S99P Polymorphism ITA8_HUMAN A994V Polymorphism ITA8_HUMAN S577F Polymorphism ITA8_HUMAN V216L Polymorphism ITA8_HUMAN Q581P Polymorphism ITA8_HUMAN I993V Polymorphism ITA8_HUMAN R748H Polymorphism GLCM_HUMAN F255Y Disease GLCM_HUMAN R87W Disease GLCM_HUMAN V437L Disease GLCM_HUMAN R502C Disease GLCM_HUMAN D419A Disease GLCM_HUMAN T530I Disease GLCM_HUMAN G85E Disease GLCM_HUMAN F76V Disease GLCM_HUMAN W351C Disease GLCM_HUMAN D419N Disease GLCM_HUMAN L509P Polymorphism GLCM_HUMAN G234W Disease GLCM_HUMAN F450I Disease GLCM_HUMAN P426L Disease GLCM_HUMAN G234E Disease GLCM_HUMAN S403T Disease GLCM_HUMAN A215D Disease GLCM_HUMAN R324H Disease GLCM_HUMAN T408M Disease GLCM_HUMAN H294Q Disease GLCM_HUMAN R324C Disease GLCM_HUMAN G416S Disease GLCM_HUMAN G517S Disease GLCM_HUMAN S235P Disease GLCM_HUMAN P217S Disease GLCM_HUMAN G428E Disease GLCM_HUMAN D513Y Disease GLCM_HUMAN V414L Disease GLCM_HUMAN W417G Disease GLCM_HUMAN R392G Disease GLCM_HUMAN A485P Disease GLCM_HUMAN Y451H Disease GLCM_HUMAN S310N Disease GLCM_HUMAN G304D Disease GLCM_HUMAN F298L Disease GLCM_HUMAN S405G Disease GLCM_HUMAN R398Q Disease GLCM_HUMAN S405N Disease GLCM_HUMAN W432R Disease GLCM_HUMAN T82I Disease GLCM_HUMAN R170C Disease GLCM_HUMAN S276P Disease GLCM_HUMAN R170L Disease GLCM_HUMAN Y251H Disease GLCM_HUMAN K342I Disease GLCM_HUMAN L483P Disease GLCM_HUMAN L483R Disease GLCM_HUMAN C381G Disease GLCM_HUMAN S146L Disease GLCM_HUMAN V230G Disease GLCM_HUMAN E80K Disease GLCM_HUMAN N435T Disease GLCM_HUMAN Y244C Disease GLCM_HUMAN V433L Disease GLCM_HUMAN P198L Disease GLCM_HUMAN K464E Disease GLCM_HUMAN K452Q Disease GLCM_HUMAN T173P Disease GLCM_HUMAN V391L Disease GLCM_HUMAN P430L Disease GLCM_HUMAN D438N Disease GLCM_HUMAN I158T Disease GLCM_HUMAN A380T Disease GLCM_HUMAN G364R Disease GLCM_HUMAN P440L Disease GLCM_HUMAN D448H Disease GLCM_HUMAN P305R Disease GLCM_HUMAN P328L Disease GLCM_HUMAN G228V Disease GLCM_HUMAN P221T Disease GLCM_HUMAN D448V Disease GLCM_HUMAN T362I Disease GLCM_HUMAN F252I Disease GLCM_HUMAN N501K Disease GLCM_HUMAN W223R Disease GLCM_HUMAN A495P Disease GLCM_HUMAN K118N Disease GLCM_HUMAN G241R Disease GLCM_HUMAN A357D Disease GLCM_HUMAN Y457C Disease GLCM_HUMAN G241E Disease GLCM_HUMAN E365K Disease GLCM_HUMAN R159W Disease GLCM_HUMAN P161S Disease GLCM_HUMAN I441T Disease GLCM_HUMAN Y352H Disease GLCM_HUMAN D179H Disease GLCM_HUMAN L363P Disease GLCM_HUMAN A348V Disease GLCM_HUMAN D354H Disease GLCM_HUMAN F456V Disease GLCM_HUMAN R159Q Disease GLCM_HUMAN N409S Disease GLCM_HUMAN N227K Disease GLCM_HUMAN P454R Disease GLCM_HUMAN A229E Disease GLCM_HUMAN N431I Disease GLCM_HUMAN K196Q Disease GLCM_HUMAN R535C Disease GLCM_HUMAN R535H Disease GLCM_HUMAN N227S Disease GLCM_HUMAN V54L Disease GLCM_HUMAN I200S Disease GLCM_HUMAN G152E Disease GLCM_HUMAN R296Q Disease GLCM_HUMAN R209P Disease GLCM_HUMAN Y343C Disease SPHM_HUMAN R456H Polymorphism SPHM_HUMAN F193L Disease SPHM_HUMAN S66W Disease SPHM_HUMAN P227R Disease SPHM_HUMAN T139M Disease SPHM_HUMAN L146P Disease SPHM_HUMAN R206P Disease SPHM_HUMAN L386R Disease SPHM_HUMAN R182C Disease SPHM_HUMAN R245H Disease SPHM_HUMAN T79P Disease SPHM_HUMAN Q380R Disease SPHM_HUMAN D179N Disease SPHM_HUMAN R74C Disease SPHM_HUMAN R150Q Disease SPHM_HUMAN V131M Disease SPHM_HUMAN R74H Disease SPHM_HUMAN Q85R Disease SPHM_HUMAN Y40N Disease SPHM_HUMAN N389K Disease SPHM_HUMAN G122R Disease SPHM_HUMAN E369K Disease SPHM_HUMAN V226A Polymorphism SPHM_HUMAN T321A Disease SPHM_HUMAN A354P Disease SPHM_HUMAN S298P Disease SPHM_HUMAN P128L Disease SPHM_HUMAN G90R Disease SPHM_HUMAN R377H Disease SPHM_HUMAN V361I Polymorphism SPHM_HUMAN D235V Disease SPHM_HUMAN R377C Disease SPHM_HUMAN A44T Disease SPHM_HUMAN E447K Disease SPHM_HUMAN S364R Disease SPHM_HUMAN A234G Disease MAPE_HUMAN W7R Polymorphism CLCN7_HUMAN L490F Disease CLCN7_HUMAN L766P Disease CLCN7_HUMAN R526W Disease CLCN7_HUMAN S744F Disease CLCN7_HUMAN R286Q Disease CLCN7_HUMAN V418M Polymorphism CLCN7_HUMAN R767Q Disease CLCN7_HUMAN G240R Disease CLCN7_HUMAN R762Q Disease CLCN7_HUMAN G677V Disease CLCN7_HUMAN M332V Disease CLCN7_HUMAN L614P Disease CLCN7_HUMAN P249R Disease CLCN7_HUMAN G215R Disease CLCN7_HUMAN R767W Disease PTAFR_HUMAN A224D Polymorphism PTAFR_HUMAN N338S Polymorphism TTDN1_HUMAN M144V Disease ZN638_HUMAN V1726M Polymorphism ZN638_HUMAN A1912V Polymorphism ZN638_HUMAN I110V Polymorphism ZN638_HUMAN N980S Polymorphism B3GT5_HUMAN M85T Polymorphism ORC4_HUMAN N78S Polymorphism ORC4_HUMAN L56V Polymorphism K2C3_HUMAN E509K Disease TSC1_HUMAN L191H Disease TSC1_HUMAN E809Q Polymorphism TSC1_HUMAN K587R Disease TSC1_HUMAN T417I Disease TSC1_HUMAN S829R Polymorphism TSC1_HUMAN R190S Polymorphism TSC1_HUMAN M224R Disease TSC1_HUMAN G1108S Polymorphism TSC1_HUMAN H732Y Disease TSC1_HUMAN A726E Disease TSC1_HUMAN Q654E Disease TSC1_HUMAN T899S Disease TSC1_HUMAN M322T Polymorphism TSC1_HUMAN E577D Polymorphism TSC1_HUMAN E51D Disease TSC1_HUMAN G1035S Polymorphism EI2BD_HUMAN A228V Disease EI2BD_HUMAN R306G Polymorphism EI2BD_HUMAN Y489H Disease EI2BD_HUMAN R374C Disease EI2BD_HUMAN C465R Disease EI2BD_HUMAN R357Q Disease BRAC_HUMAN G177D Polymorphism BRAC_HUMAN N369S Polymorphism IFNA8_HUMAN E137K Polymorphism SIG10_HUMAN V226A Polymorphism SIG10_HUMAN R520S Polymorphism MIC2_HUMAN M166V Polymorphism MIC2_HUMAN N173I Polymorphism ABCB7_HUMAN I400M Disease ABCB7_HUMAN E433K Disease ABCB7_HUMAN V411L Disease ABCB7_HUMAN F346I Polymorphism ABCB7_HUMAN R315G Polymorphism FANCE_HUMAN G340R Polymorphism FANCE_HUMAN R343Q Polymorphism FANCE_HUMAN S204L Polymorphism FANCE_HUMAN A502T Polymorphism FANCE_HUMAN R89L Polymorphism TRPV1_HUMAN I585V Polymorphism CU002_HUMAN T150I Polymorphism KCMB4_HUMAN V199I Polymorphism LCB1_HUMAN V144D Disease LCB1_HUMAN C133Y Disease LCB1_HUMAN C133W Disease FIBA_HUMAN S66T Polymorphism FIBA_HUMAN E545V Disease FIBA_HUMAN T331A Polymorphism FIBA_HUMAN R573L Disease FIBA_HUMAN I6V Polymorphism FIBA_HUMAN T456A Polymorphism FIBA_HUMAN K446E Polymorphism S26A2_HUMAN A715V Disease S26A2_HUMAN N425D Disease S26A2_HUMAN R279W Disease S26A2_HUMAN T689S Polymorphism S26A2_HUMAN G678V Disease S26A2_HUMAN C653S Disease S26A2_HUMAN G255E Disease IRK15_HUMAN G98D Polymorphism MRE11_HUMAN M698V Polymorphism MRE11_HUMAN S104C Disease MRE11_HUMAN D468G Polymorphism MRE11_HUMAN R503H Disease MRE11_HUMAN R572Q Disease MRE11_HUMAN N117S Disease MRE11_HUMAN M157V Polymorphism PTPS_HUMAN E35G Disease PTPS_HUMAN F100V Disease PTPS_HUMAN P87L Disease PTPS_HUMAN N47D Disease PTPS_HUMAN R25G Disease PTPS_HUMAN N52S Disease PTPS_HUMAN V70D Disease PTPS_HUMAN D116G Disease PTPS_HUMAN D136V Disease PTPS_HUMAN V56M Disease PTPS_HUMAN T106M Disease PTPS_HUMAN T67M Disease PTPS_HUMAN D96N Disease PTPS_HUMAN R16C Disease PTPS_HUMAN N36K Disease PTPS_HUMAN P87S Disease PTPS_HUMAN I114V Disease PTPS_HUMAN K129E Disease PTPS_HUMAN R25Q Disease DHRS6_HUMAN S70N Polymorphism CCL23_HUMAN M106V Polymorphism LRP8_HUMAN R952Q Polymorphism LRP8_HUMAN E46D Polymorphism RFPL1_HUMAN M127T Polymorphism SSR5_HUMAN P335L Polymorphism ABCB8_HUMAN V152I Polymorphism NOS2A_HUMAN S608L Polymorphism NHLC1_HUMAN C26S Disease NHLC1_HUMAN P69A Disease NHLC1_HUMAN F33S Disease NHLC1_HUMAN Q302P Disease NHLC1_HUMAN D146N Disease NHLC1_HUMAN P111L Polymorphism NHLC1_HUMAN L87P Disease REST_HUMAN D1069E Polymorphism LGI1_HUMAN S473L Disease LGI1_HUMAN E383A Disease LGI1_HUMAN C42G Disease LGI1_HUMAN L26R Disease LGI1_HUMAN F318C Disease LGI1_HUMAN C46R Disease GLT11_HUMAN D197Y Polymorphism GLT11_HUMAN P151S Polymorphism GABR1_HUMAN A20V Polymorphism GABR1_HUMAN G489S Polymorphism A2MG_HUMAN C972Y Polymorphism A2MG_HUMAN R704H Polymorphism A2MG_HUMAN V1000I Polymorphism FCG2B_HUMAN I232T Polymorphism FCG2B_HUMAN Y258D Polymorphism S39A2_HUMAN G129E Polymorphism S39A2_HUMAN M80V Polymorphism S39A2_HUMAN H154Y Polymorphism ANDR_HUMAN E793D Polymorphism ANDR_HUMAN L54S Disease ANDR_HUMAN G683A Disease ANDR_HUMAN M266T Disease ANDR_HUMAN Q112H Disease ANDR_HUMAN C619Y Disease ANDR_HUMAN G750S Disease ANDR_HUMAN H874Y Disease ANDR_HUMAN A748T Disease ANDR_HUMAN A748V Disease ANDR_HUMAN V730M Disease ANDR_HUMAN D890N Disease ANDR_HUMAN R629Q Disease ANDR_HUMAN G724D Disease ANDR_HUMAN L830P Disease ANDR_HUMAN A896T Disease ANDR_HUMAN T755A Disease ANDR_HUMAN A721T Disease ANDR_HUMAN R607Q Disease ANDR_HUMAN D528G Disease ANDR_HUMAN K910R Disease ANDR_HUMAN R726L Disease ANDR_HUMAN Q443R Polymorphism ANDR_HUMAN P269S Disease ANDR_HUMAN K180R Disease ANDR_HUMAN V866M Disease ANDR_HUMAN L701H Disease ANDR_HUMAN Q798E Disease ANDR_HUMAN K630T Disease ANDR_HUMAN S759P Disease ANDR_HUMAN A586V Disease ANDR_HUMAN T575A Disease ANDR_HUMAN S647N Disease ANDR_HUMAN Q919R Disease ANDR_HUMAN T877S Disease ANDR_HUMAN S205R Polymorphism ANDR_HUMAN R846G Disease ANDR_HUMAN S782N Disease ANDR_HUMAN L880Q Disease ANDR_HUMAN K717E Disease ANDR_HUMAN S791P Disease ANDR_HUMAN L57Q Disease ANDR_HUMAN T877A Disease ANDR_HUMAN Y763C Disease ANDR_HUMAN A587S Disease ANDR_HUMAN P340L Disease ANDR_HUMAN A645D Polymorphism ANDR_HUMAN Q670R Disease ANDR_HUMAN K720E Disease ANDR_HUMAN K580R Disease ANDR_HUMAN F891L Disease ANDR_HUMAN Q64R Disease ANDR_HUMAN F754L Disease ANDR_HUMAN G909E Disease ANDR_HUMAN M749I Disease ANDR_HUMAN V715M Disease ANDR_HUMAN R608K Disease ANDR_HUMAN I672T Disease ANDR_HUMAN L744F Disease ANDR_HUMAN V757A Disease ANDR_HUMAN L574P Disease ANDR_HUMAN Q902R Disease MICA2_HUMAN I220V Polymorphism MICA2_HUMAN R1089Q Polymorphism CD151_HUMAN R178H Polymorphism CD151_HUMAN R132K Polymorphism CD151_HUMAN S137P Polymorphism LCAP_HUMAN A763T Polymorphism RTDR1_HUMAN T42M Polymorphism ACTA_HUMAN T196S Polymorphism ACTA_HUMAN T320A Polymorphism ACTA_HUMAN H373P Polymorphism ACTS_HUMAN I359L Disease ACTS_HUMAN V165L Disease ACTS_HUMAN G270C Disease ACTS_HUMAN E261V Disease ACTS_HUMAN M134V Disease ACTS_HUMAN G17R Disease ACTS_HUMAN N282K Disease ACTS_HUMAN L96P Disease ACTS_HUMAN M271R Disease ACTS_HUMAN R185C Disease ACTS_HUMAN G184D Disease ACTS_HUMAN N117S Disease ACTS_HUMAN R185G Disease ACTS_HUMAN I138M Disease ACTS_HUMAN Q265L Disease ACTS_HUMAN D288G Disease ACTS_HUMAN V372F Disease ACTS_HUMAN R258H Disease ACTS_HUMAN H42Y Disease ACTC_HUMAN E101K Disease ACTC_HUMAN R314H Disease ACTC_HUMAN A297S Disease ACTC_HUMAN A333P Disease ACTC_HUMAN E363G Disease ACTC_HUMAN P166A Disease FGFR2_HUMAN S267P Disease FGFR2_HUMAN A362S Disease FGFR2_HUMAN N331I Disease FGFR2_HUMAN F276V Disease FGFR2_HUMAN Y105C Disease FGFR2_HUMAN A337P Disease FGFR2_HUMAN R6P Polymorphism FGFR2_HUMAN K526E Disease FGFR2_HUMAN K292E Disease FGFR2_HUMAN S354C Disease FGFR2_HUMAN S372C Disease FGFR2_HUMAN Y281C Disease FGFR2_HUMAN P263L Disease FGFR2_HUMAN Y340H Disease FGFR2_HUMAN V359F Disease FGFR2_HUMAN C342R Disease FGFR2_HUMAN C342W Disease FGFR2_HUMAN C342Y Disease FGFR2_HUMAN P253R Disease FGFR2_HUMAN Y340C Disease FGFR2_HUMAN Y301C Disease FGFR2_HUMAN A344P Disease FGFR2_HUMAN A172F Disease FGFR2_HUMAN G338E Disease FGFR2_HUMAN C342G Disease FGFR2_HUMAN C342F Disease FGFR2_HUMAN S252W Disease FGFR2_HUMAN A344G Disease FGFR2_HUMAN N549H Disease FGFR2_HUMAN I288S Disease FGFR2_HUMAN S351C Disease FGFR2_HUMAN G663E Disease FGFR2_HUMAN C342S Disease FGFR2_HUMAN Q289P Disease FGFR2_HUMAN D321A Disease FGFR2_HUMAN S252L Disease FGFR2_HUMAN R678G Disease FGFR2_HUMAN M186T Polymorphism FGFR2_HUMAN S347C Disease FGFR2_HUMAN C278Y Disease FGFR2_HUMAN T341P Disease FGFR2_HUMAN Y328C Disease FGFR2_HUMAN G338R Disease FGFR2_HUMAN G613R Polymorphism FGFR2_HUMAN G384R Disease FGFR2_HUMAN S354Y Disease FGFR2_HUMAN W290G Disease FGFR2_HUMAN C278F Disease FGFR2_HUMAN K641R Disease FGFR2_HUMAN E565G Disease FGFR2_HUMAN S252F Disease FGFR2_HUMAN W290R Disease FGFR2_HUMAN W290C Disease FGFR2_HUMAN Y375C Disease C1QB_HUMAN G40D Disease MOT8_HUMAN L471P Disease MOT8_HUMAN A224V Disease MOT8_HUMAN L512P Disease CT166_HUMAN V27A Polymorphism PROM1_HUMAN A31G Polymorphism PROM1_HUMAN A31S Polymorphism ACV1B_HUMAN L408V Polymorphism BMPR2_HUMAN C123R Disease BMPR2_HUMAN C123S Disease BMPR2_HUMAN D485G Disease BMPR2_HUMAN C117Y Disease BMPR2_HUMAN C420R Disease BMPR2_HUMAN C118W Disease BMPR2_HUMAN S775N Polymorphism BMPR2_HUMAN K512T Disease BMPR2_HUMAN C483R Disease BMPR2_HUMAN E224D Polymorphism BMPR2_HUMAN R491W Disease BMPR2_HUMAN C347Y Disease BMPR2_HUMAN N519K Disease BMPR2_HUMAN C60Y Disease BMPR2_HUMAN R491Q Disease RFP2_HUMAN S355T Polymorphism MLF1_HUMAN P226T Polymorphism MFN2_HUMAN R280H Disease MFN2_HUMAN V69F Disease MFN2_HUMAN K357N Disease MFN2_HUMAN W740S Disease MFN2_HUMAN L76P Disease MFN2_HUMAN P251A Disease MFN2_HUMAN R94Q Disease IKBB_HUMAN R339W Polymorphism WN10A_HUMAN P302T Polymorphism DCC_HUMAN M168T Disease DCC_HUMAN P1375H Disease DCC_HUMAN R201G Polymorphism MICA3_HUMAN M778L Polymorphism TNR7_HUMAN A59T Polymorphism ZN266_HUMAN P170L Polymorphism SMAL1_HUMAN I207F Polymorphism SMAL1_HUMAN R114H Polymorphism SMAL1_HUMAN K647T Disease SMAL1_HUMAN R820H Disease SMAL1_HUMAN S579L Disease SMAL1_HUMAN R644W Disease SMAL1_HUMAN I548N Disease SMAL1_HUMAN E377Q Polymorphism SMAL1_HUMAN T742M Polymorphism SMAL1_HUMAN A43T Polymorphism SMAL1_HUMAN Y206D Polymorphism SMAL1_HUMAN D649N Polymorphism SMAL1_HUMAN A468P Disease SMAL1_HUMAN K647Q Disease SMAL1_HUMAN R645C Disease SMAL1_HUMAN R586W Disease SMAL1_HUMAN S315R Polymorphism SMAL1_HUMAN D424V Polymorphism SMAL1_HUMAN T705I Disease SMAL1_HUMAN R764Q Disease PR285_HUMAN N788S Polymorphism PR285_HUMAN L2016P Polymorphism PR285_HUMAN R1123H Polymorphism PR285_HUMAN E2049Q Polymorphism CAN3_HUMAN R748Q Disease CAN3_HUMAN S86F Disease CAN3_HUMAN I502T Disease CAN3_HUMAN R541Q Disease CAN3_HUMAN R448H Disease CAN3_HUMAN R448G Disease CAN3_HUMAN R448C Disease CAN3_HUMAN G567W Disease CAN3_HUMAN H774D Disease CAN3_HUMAN L189P Disease CAN3_HUMAN Q486E Disease CAN3_HUMAN P26L Disease CAN3_HUMAN P183L Disease CAN3_HUMAN R437C Disease CAN3_HUMAN D705G Disease CAN3_HUMAN E217K Disease CAN3_HUMAN G222R Disease CAN3_HUMAN E226K Disease CAN3_HUMAN S606L Disease CAN3_HUMAN R698P Disease CAN3_HUMAN H334Q Disease CAN3_HUMAN D705H Disease CAN3_HUMAN Q638P Disease CAN3_HUMAN G234E Disease CAN3_HUMAN R490Q Disease CAN3_HUMAN R490W Disease CAN3_HUMAN P319L Disease CAN3_HUMAN R118G Disease CAN3_HUMAN G496R Disease CAN3_HUMAN S744G Disease CAN3_HUMAN A798E Disease CAN3_HUMAN G445R Disease CAN3_HUMAN R572W Disease CAN3_HUMAN R572Q Disease CAN3_HUMAN W360C Disease CAN3_HUMAN G21E Polymorphism CAN3_HUMAN V354G Disease CAN3_HUMAN D77N Disease CAN3_HUMAN S479G Disease CAN3_HUMAN S215P Disease CAN3_HUMAN R489W Disease CAN3_HUMAN R489Q Disease CAN3_HUMAN Y336N Disease CAN3_HUMAN C137R Disease CAN3_HUMAN R440W Disease CAN3_HUMAN L182Q Disease CAN3_HUMAN A160G Polymorphism CAN3_HUMAN R769Q Disease CAN3_HUMAN T232I Disease CAN3_HUMAN V4I Disease CAN3_HUMAN G441D Disease CAN3_HUMAN A702V Disease CAN3_HUMAN T184M Disease CAN3_HUMAN E107K Polymorphism CAN3_HUMAN I162L Disease CAN3_HUMAN R493W Disease CAN3_HUMAN F731S Disease CAN3_HUMAN G214S Disease CAN3_HUMAN A236T Polymorphism NAR4_HUMAN N265D Polymorphism NAR4_HUMAN D135E Polymorphism NAR4_HUMAN T189M Polymorphism SALF_HUMAN Q607H Polymorphism SALF_HUMAN Q544H Polymorphism SALF_HUMAN R127T Polymorphism TAP1_HUMAN V518I Polymorphism TAP1_HUMAN D637G Polymorphism TAP1_HUMAN I333V Polymorphism TAP1_HUMAN R659Q Disease TAP1_HUMAN G17R Polymorphism TAP1_HUMAN G419C Polymorphism TAP1_HUMAN R648Q Polymorphism TAP1_HUMAN A370V Polymorphism TAP1_HUMAN V458L Polymorphism TAP1_HUMAN P7S Polymorphism STA13_HUMAN K132R Polymorphism KR105_HUMAN D20N Polymorphism KR105_HUMAN V235L Polymorphism KR105_HUMAN P268R Polymorphism KR101_HUMAN P39L Polymorphism KR109_HUMAN C182Y Polymorphism KR102_HUMAN R241G Polymorphism KR102_HUMAN A117P Polymorphism KR102_HUMAN P107T Polymorphism KR102_HUMAN N15D Polymorphism KR10B_HUMAN Y213S Polymorphism IFNG_HUMAN K29Q Polymorphism IFNG_HUMAN R160Q Polymorphism DNL3_HUMAN P899S Polymorphism DNL3_HUMAN K811T Polymorphism DNL3_HUMAN R137W Polymorphism DNL3_HUMAN R780H Polymorphism A4GCT_HUMAN A218D Polymorphism GATA1_HUMAN D218G Disease GATA1_HUMAN G208S Disease GATA1_HUMAN V205M Disease RPIA_HUMAN A61V Disease BIEA_HUMAN Q56R Polymorphism BIEA_HUMAN L37V Polymorphism BIEA_HUMAN A3T Polymorphism FUCT1_HUMAN R147C Disease FUCT1_HUMAN T308R Disease CSF3R_HUMAN R583C Polymorphism CSF3R_HUMAN R440Q Polymorphism CSF3R_HUMAN Q346R Polymorphism CSF3R_HUMAN E405K Polymorphism CSF3R_HUMAN M231T Polymorphism CSF3R_HUMAN Y562H Polymorphism CSF3R_HUMAN D510H Polymorphism CSF3R_HUMAN D320N Polymorphism CP51A_HUMAN V13A Polymorphism GLE1_HUMAN I243V Polymorphism GLE1_HUMAN R590Q Polymorphism GLE1_HUMAN G130D Polymorphism KCMB3_HUMAN L75V Polymorphism KCMB3_HUMAN D44G Polymorphism KCMB3_HUMAN T53A Polymorphism KCMB3_HUMAN N165S Polymorphism KCMB3_HUMAN M230T Polymorphism LOXE3_HUMAN R396S Disease LOXE3_HUMAN V500F Disease GPR3_HUMAN R222H Polymorphism LAMB3_HUMAN E210K Disease LAMB3_HUMAN P679L Disease LIPR1_HUMAN A271V Polymorphism LIPR1_HUMAN L461P Polymorphism LIPR1_HUMAN E414D Polymorphism 3HAO_HUMAN V37I Polymorphism GOGA3_HUMAN K1185R Polymorphism GOGA3_HUMAN G70E Polymorphism GOGA3_HUMAN P264L Polymorphism AT2C1_HUMAN G309C Disease AT2C1_HUMAN L584P Disease AT2C1_HUMAN A304T Disease AT2C1_HUMAN C490F Disease AT2C1_HUMAN P201L Disease AT2C1_HUMAN G645R Disease AT2C1_HUMAN P744R Disease AT2C1_HUMAN L341P Disease AT2C1_HUMAN T709M Disease AT2C1_HUMAN L318P Disease AT2C1_HUMAN M641R Disease ING1_HUMAN C358S Disease ING1_HUMAN A335D Disease ING1_HUMAN N359S Disease SC5D_HUMAN R29Q Disease SC5D_HUMAN G211D Disease SC5D_HUMAN Y46S Disease COHA1_HUMAN G627V Disease COHA1_HUMAN D1370G Polymorphism COHA1_HUMAN S265C Disease COHA1_HUMAN R1303Q Disease COHA1_HUMAN T210M Polymorphism COHA1_HUMAN V703M Polymorphism COHA1_HUMAN I231M Polymorphism COHA1_HUMAN G633D Disease COHA1_HUMAN S428G Polymorphism COHA1_HUMAN M238T Polymorphism ASCL1_HUMAN E158G Polymorphism CCNB2_HUMAN M100T Polymorphism CCNB2_HUMAN I395T Polymorphism PCDG1_HUMAN V152I Polymorphism GFPT2_HUMAN I470V Polymorphism MERL_HUMAN L234R Disease MERL_HUMAN Q538P Disease MERL_HUMAN N220Y Disease MERL_HUMAN I273F Disease MERL_HUMAN L535P Disease MERL_HUMAN F62S Disease MERL_HUMAN L360P Disease MERL_HUMAN T352M Disease MERL_HUMAN K364I Disease MERL_HUMAN E106G Disease ANGT_HUMAN M268T Polymorphism ANGT_HUMAN L392M Polymorphism ANGT_HUMAN T207M Polymorphism ANGT_HUMAN L244R Polymorphism MYPC1_HUMAN H481Q Polymorphism LMX1B_HUMAN H54Y Disease LMX1B_HUMAN W243C Disease LMX1B_HUMAN H54Q Disease LMX1B_HUMAN S218P Disease LMX1B_HUMAN H54N Disease LMX1B_HUMAN R200Q Disease LMX1B_HUMAN C36R Disease LMX1B_HUMAN C36S Disease LMX1B_HUMAN A213P Disease LMX1B_HUMAN C120S Disease LMX1B_HUMAN R226P Disease LMX1B_HUMAN L58W Disease LMX1B_HUMAN C123F Disease LMX1B_HUMAN C80W Disease LMX1B_HUMAN C57R Disease LMX1B_HUMAN C63R Disease LMX1B_HUMAN N246K Disease LMX1B_HUMAN D83G Disease LMX1B_HUMAN C142W Disease LMX1B_HUMAN H114Y Disease LMX1B_HUMAN A230V Disease LMX1B_HUMAN C60G Disease LMX1B_HUMAN C60F Disease LMX1B_HUMAN C117Y Disease LMX1B_HUMAN C123Y Disease LMX1B_HUMAN C95F Disease LMX1B_HUMAN L229P Disease LMX1B_HUMAN C95Y Disease LMX1B_HUMAN C60W Disease LMX1B_HUMAN C60Y Disease CD1D_HUMAN T64S Polymorphism SRPX_HUMAN S413F Polymorphism SRPX_HUMAN P225S Polymorphism I11RA_HUMAN P65T Polymorphism I11RA_HUMAN R395W Polymorphism IDUA_HUMAN P533R Disease IDUA_HUMAN N350I Disease IDUA_HUMAN L490P Disease IDUA_HUMAN Q33H Polymorphism IDUA_HUMAN G409R Disease IDUA_HUMAN R105Q Polymorphism IDUA_HUMAN R628P Disease IDUA_HUMAN M504T Disease IDUA_HUMAN R489P Disease IDUA_HUMAN M133I Disease IDUA_HUMAN P496L Disease IDUA_HUMAN G51D Disease IDUA_HUMAN G116R Polymorphism IDUA_HUMAN L218P Disease IDUA_HUMAN R492P Disease IDUA_HUMAN Q380R Disease IDUA_HUMAN R619G Disease IDUA_HUMAN T366P Disease IDUA_HUMAN T388R Disease IDUA_HUMAN R363C Disease IDUA_HUMAN R383H Disease IDUA_HUMAN E182K Disease IDUA_HUMAN L238Q Disease IDUA_HUMAN A361T Polymorphism IDUA_HUMAN S260F Disease IDUA_HUMAN V279A Polymorphism IDUA_HUMAN H82P Disease IDUA_HUMAN G208D Disease IDUA_HUMAN A327P Disease IDUA_HUMAN R89W Disease IDUA_HUMAN A75T Disease IDUA_HUMAN R89Q Disease IDUA_HUMAN D349N Disease IDUA_HUMAN V454I Polymorphism IDUA_HUMAN W626R Disease IDUA_HUMAN S423R Disease IDUA_HUMAN L346R Disease IDUA_HUMAN D349Y Disease IDUA_HUMAN A79V Disease IDUA_HUMAN F602I Disease OR1A2_HUMAN G256C Polymorphism CNTN3_HUMAN S630N Polymorphism RFA1_HUMAN T351A Polymorphism SEM3C_HUMAN V337M Polymorphism GALT8_HUMAN A337V Polymorphism GALT8_HUMAN V611M Polymorphism GALT8_HUMAN Y53N Polymorphism GALT8_HUMAN V515F Polymorphism GALT8_HUMAN D438G Polymorphism GALT8_HUMAN F312S Polymorphism GALT8_HUMAN Y53D Polymorphism GALT8_HUMAN E267G Polymorphism NEBL_HUMAN Q187H Polymorphism NEBL_HUMAN N654K Polymorphism NEBL_HUMAN A219D Polymorphism NEBL_HUMAN M351V Polymorphism NEBL_HUMAN T728A Polymorphism TRYD_HUMAN V76M Polymorphism TRYD_HUMAN P15R Polymorphism TRYD_HUMAN V18A Polymorphism K1C13_HUMAN L115P Disease K1C13_HUMAN L111P Disease K1C13_HUMAN M108T Disease K1C13_HUMAN L119P Disease K1C13_HUMAN N112S Disease MXI1_HUMAN E152A Disease TSC2_HUMAN F320L Disease TSC2_HUMAN L826M Disease TSC2_HUMAN N331K Disease TSC2_HUMAN V769E Disease TSC2_HUMAN L1594M Disease TSC2_HUMAN G440S Polymorphism TSC2_HUMAN N1643K Disease TSC2_HUMAN P1315S Disease TSC2_HUMAN H593R Polymorphism TSC2_HUMAN G1791S Polymorphism TSC2_HUMAN N1681K Disease TSC2_HUMAN A1712E Disease TSC2_HUMAN Y1650C Disease TSC2_HUMAN P1450R Polymorphism TSC2_HUMAN D1295V Disease TSC2_HUMAN M449I Disease TSC2_HUMAN I490V Polymorphism TSC2_HUMAN M895V Disease TSC2_HUMAN L717R Disease TSC2_HUMAN S1704T Disease TSC2_HUMAN D1084E Disease TSC2_HUMAN D647N Disease TSC2_HUMAN H1620Y Disease TSC2_HUMAN T94P Polymorphism TSC2_HUMAN L309Q Polymorphism TSC2_HUMAN L1750F Disease TSC2_HUMAN P1675L Disease TSC2_HUMAN L292P Disease TSC2_HUMAN K599M Disease TSC2_HUMAN L361P Disease TSC2_HUMAN E1783Q Disease TSC2_HUMAN F615S Polymorphism TSC2_HUMAN Y407D Disease TSC2_HUMAN R905Q Disease TSC2_HUMAN S1498N Disease TSC2_HUMAN R611W Disease TSC2_HUMAN A583T Polymorphism TSC2_HUMAN P1227L Disease TSC2_HUMAN C696Y Disease TSC2_HUMAN V963M Disease TSC2_HUMAN A614D Disease TSC2_HUMAN N486I Disease TSC2_HUMAN P1709L Disease TSC2_HUMAN R367Q Polymorphism TSC2_HUMAN D1690Y Disease TSC2_HUMAN N1651S Disease TSC2_HUMAN Y1549C Disease TSC2_HUMAN R1240W Disease TSC2_HUMAN R261P Disease TSC2_HUMAN R905W Disease TSC2_HUMAN H137R Disease TSC2_HUMAN R611Q Disease TSC2_HUMAN L1744P Disease TSC2_HUMAN L160V Polymorphism TSC2_HUMAN I463V Polymorphism TSC2_HUMAN R1743Q Disease TSC2_HUMAN R1743P Disease TSC2_HUMAN A1429S Polymorphism TSC2_HUMAN R261W Polymorphism TSC2_HUMAN A536V Polymorphism TSC2_HUMAN V1673L Polymorphism TSC2_HUMAN S1341R Polymorphism TSC2_HUMAN N1643I Disease TSC2_HUMAN S1282G Polymorphism TSC2_HUMAN V1144M Disease TSC2_HUMAN R1329H Disease TSC2_HUMAN A862V Polymorphism TSC2_HUMAN H1773P Disease TSC2_HUMAN L1027P Disease TSC2_HUMAN R1200W Disease TSC2_HUMAN P816L Disease TSC2_HUMAN P1497R Disease TSC2_HUMAN G294E Disease TSC2_HUMAN M286V Polymorphism TSC2_HUMAN C227Y Disease TSC2_HUMAN P378L Polymorphism TSC2_HUMAN M286T Polymorphism TSC2_HUMAN G1787S Polymorphism TSC2_HUMAN K258N Disease TSC2_HUMAN D1636N Polymorphism TSC2_HUMAN S1653F Disease TSC2_HUMAN N525S Disease TSC2_HUMAN A607T Polymorphism CU077_HUMAN E2G Polymorphism OZF_HUMAN K8R Polymorphism QPCT_HUMAN Q71R Polymorphism TA2R9_HUMAN V187A Polymorphism DCR1B_HUMAN R46L Polymorphism DCR1B_HUMAN D462N Polymorphism DCR1B_HUMAN H61Y Polymorphism C1QA_HUMAN E23K Polymorphism TNR16_HUMAN S205L Polymorphism AP3B1_HUMAN L580R Disease CP27B_HUMAN V166L Polymorphism SCFD1_HUMAN K62R Polymorphism HXD13_HUMAN S308C Disease HXD13_HUMAN I314L Disease FOXC1_HUMAN S82T Disease FOXC1_HUMAN M161K Polymorphism FOXC1_HUMAN I87M Disease FOXC1_HUMAN F112S Disease FOXC1_HUMAN S131L Disease FOXC1_HUMAN I126M Disease GNAS_HUMAN P115L Disease GNAS_HUMAN R201H Disease GNAS_HUMAN R201L Disease GNAS_HUMAN R201C Disease GNAS_HUMAN R258W Disease GNAS_HUMAN R201G Disease GNAS_HUMAN R165C Disease GNAS_HUMAN S250R Disease GNAS_HUMAN R231H Disease GNAS_HUMAN R201S Disease GNAS_HUMAN A366S Disease GNAS_HUMAN Q227R Disease GNAS_HUMAN R385H Disease GNAS_HUMAN L99P Disease HNF6_HUMAN P75A Polymorphism SNX23_HUMAN R824S Polymorphism SNX23_HUMAN M1027T Polymorphism SNX23_HUMAN N1119S Polymorphism ECHB_HUMAN G281D Disease ECHB_HUMAN R445K Disease ECHB_HUMAN D243G Disease ECHB_HUMAN G302S Disease ECHB_HUMAN G60D Disease ECHB_HUMAN T134P Disease ECHB_HUMAN P295R Disease ECHB_HUMAN R62C Disease ECHB_HUMAN P295L Disease ECHB_HUMAN D264G Disease ECHB_HUMAN R118G Disease ECHB_HUMAN R62H Disease ECHB_HUMAN R248H Disease ECHB_HUMAN L122P Disease LYAG_HUMAN A880D Disease LYAG_HUMAN Y455F Disease LYAG_HUMAN P545L Disease LYAG_HUMAN W481R Disease LYAG_HUMAN G219R Disease LYAG_HUMAN M318T Disease LYAG_HUMAN V816I Polymorphism LYAG_HUMAN L299R Disease LYAG_HUMAN G549R Disease LYAG_HUMAN M519T Disease LYAG_HUMAN M519V Disease LYAG_HUMAN G648S Disease LYAG_HUMAN R199H Polymorphism LYAG_HUMAN E521K Disease LYAG_HUMAN P768R Disease LYAG_HUMAN C374R Disease LYAG_HUMAN L312R Disease LYAG_HUMAN D645E Disease LYAG_HUMAN L355P Disease LYAG_HUMAN L552P Disease LYAG_HUMAN D645N Disease LYAG_HUMAN G643R Disease LYAG_HUMAN D645H Disease LYAG_HUMAN L405P Disease LYAG_HUMAN D91N Polymorphism LYAG_HUMAN G615R Disease LYAG_HUMAN R600H Disease LYAG_HUMAN W402R Disease LYAG_HUMAN T927I Polymorphism LYAG_HUMAN Y292C Disease LYAG_HUMAN E689K Polymorphism LYAG_HUMAN G576S Polymorphism LYAG_HUMAN R672Q Disease LYAG_HUMAN H223R Polymorphism LYAG_HUMAN H308P Disease LYAG_HUMAN S566P Disease LYAG_HUMAN C647W Disease LYAG_HUMAN R672W Disease LYAG_HUMAN E579K Disease LYAG_HUMAN G478R Disease LYAG_HUMAN G576A Polymorphism LYAG_HUMAN I780V Polymorphism LYAG_HUMAN R725W Disease LYAG_HUMAN S529V Disease LYAG_HUMAN V949D Disease LYAG_HUMAN Y575S Disease LYAG_HUMAN R600C Disease LYAG_HUMAN G309R Disease LYAG_HUMAN G293R Disease LYAG_HUMAN C103G Disease LYAG_HUMAN G607D Disease LYAG_HUMAN W746C Polymorphism LYAG_HUMAN P285R Disease CLN6_HUMAN M241T Disease CLN6_HUMAN P299L Disease CLN6_HUMAN Y221S Disease CLN6_HUMAN G123D Disease CLN6_HUMAN E72Q Disease CLN6_HUMAN R62H Disease CLN6_HUMAN W300R Disease TRI36_HUMAN K428R Polymorphism TRI36_HUMAN N678D Polymorphism TRI36_HUMAN N456S Polymorphism MET_HUMAN Y1230H Disease MET_HUMAN V1188L Disease MET_HUMAN D1228H Disease MET_HUMAN D1228N Disease MET_HUMAN Y1230C Disease MET_HUMAN M1250T Disease MET_HUMAN A320V Polymorphism MET_HUMAN L1195V Disease MET_HUMAN V1220I Disease MET_HUMAN M1131T Disease CR1_HUMAN T1408M Polymorphism CR1_HUMAN P1827R Polymorphism CR1_HUMAN T1408I Polymorphism CR1_HUMAN H1850D Polymorphism CR1_HUMAN R1601G Polymorphism CR1_HUMAN K1590E Polymorphism CR1_HUMAN I1615V Polymorphism CR1_HUMAN H1208R Polymorphism MYBB_HUMAN S427G Polymorphism KIF9_HUMAN V78I Polymorphism KIF9_HUMAN G96A Polymorphism CDK9_HUMAN G231A Polymorphism CMC2_HUMAN E601K Disease LPPB_HUMAN P53L Polymorphism LPPB_HUMAN V80A Polymorphism ATP7A_HUMAN G1019D Disease ATP7A_HUMAN D1305A Disease ATP7A_HUMAN G1302R Disease ATP7A_HUMAN G1015D Disease ATP7A_HUMAN S637L Disease ATP7A_HUMAN G1302V Disease ATP7A_HUMAN S1344R Disease ATP7A_HUMAN L873R Disease ATP7A_HUMAN D1044G Disease ATP7A_HUMAN S1397F Disease ATP7A_HUMAN K1282E Disease ATP7A_HUMAN I1345F Disease ATP7A_HUMAN G1300E Disease ATP7A_HUMAN G1118D Disease ATP7A_HUMAN G1315R Disease ATP7A_HUMAN L1100P Disease ATP7A_HUMAN V767L Disease ATP7A_HUMAN N1304K Disease ATP7A_HUMAN L1006P Disease ATP7A_HUMAN A1325V Disease ATP7A_HUMAN G853R Disease ATP7A_HUMAN A1362V Disease ATP7A_HUMAN G1255R Disease ATP7A_HUMAN A1007V Disease ATP7A_HUMAN Q924R Disease ATP7A_HUMAN L706R Disease ATP7A_HUMAN T669I Polymorphism ATP7A_HUMAN C1000R Disease ATP7A_HUMAN G876R Disease ATP7A_HUMAN A629P Disease ATP7A_HUMAN G876E Disease ATP7A_HUMAN R703H Polymorphism ATP7A_HUMAN I1464V Polymorphism ATP7A_HUMAN G727R Disease ATP7A_HUMAN R844H Disease ATP7A_HUMAN G860V Disease ATP7A_HUMAN G1369R Disease RM03_HUMAN M261T Polymorphism TF2B_HUMAN P19S Polymorphism HGD_HUMAN R225H Disease HGD_HUMAN M368V Disease HGD_HUMAN A122D Disease HGD_HUMAN E168K Disease HGD_HUMAN S189I Disease HGD_HUMAN D291E Disease HGD_HUMAN I216T Disease HGD_HUMAN G161R Disease HGD_HUMAN E42A Disease HGD_HUMAN H371R Disease HGD_HUMAN D153G Disease HGD_HUMAN L25P Disease HGD_HUMAN F227S Disease HGD_HUMAN Y62C Disease HGD_HUMAN V300G Disease HGD_HUMAN W60G Disease HGD_HUMAN R330S Disease HGD_HUMAN P230S Disease HGD_HUMAN P230T Disease HGD_HUMAN W97G Disease HGD_HUMAN G270R Disease AICDA_HUMAN W80R Disease AICDA_HUMAN L106P Disease AICDA_HUMAN R25C Polymorphism AICDA_HUMAN M139V Disease AICDA_HUMAN F151S Disease AICDA_HUMAN R24W Disease AACT_HUMAN L78P Disease AACT_HUMAN A9T Polymorphism AACT_HUMAN A167G Polymorphism AACT_HUMAN P252A Disease AACT_HUMAN D407G Polymorphism CCNG2_HUMAN L4V Polymorphism CCNG2_HUMAN E28G Polymorphism LIS1_HUMAN H148R Disease LIS1_HUMAN D316H Disease LIS1_HUMAN S168P Disease LIS1_HUMAN G161S Disease LIS1_HUMAN F30S Disease K2C1_HUMAN I478F Disease K2C1_HUMAN L213P Disease K2C1_HUMAN I329T Polymorphism K2C1_HUMAN S192P Disease K2C1_HUMAN I311V Polymorphism K2C1_HUMAN S185P Disease K2C1_HUMAN G536C Polymorphism K2C1_HUMAN L485P Disease K2C1_HUMAN R632K Polymorphism K2C1_HUMAN V154D Disease K2C1_HUMAN V154G Disease K2C1_HUMAN I478T Disease K2C1_HUMAN L160P Disease K2C1_HUMAN N187T Disease K2C1_HUMAN K73I Disease K2C1_HUMAN N187S Disease K2C1_HUMAN N357Y Polymorphism K2C1_HUMAN Y481C Disease K2C1_HUMAN D339V Disease K2C1_HUMAN N187K Disease K2C1_HUMAN E489Q Disease UT14A_HUMAN V487A Polymorphism UT14C_HUMAN T101A Polymorphism UT14C_HUMAN G85V Polymorphism PEDF_HUMAN M72T Polymorphism VN1R5_HUMAN R350C Polymorphism PZRN3_HUMAN A783V Polymorphism SSDH_HUMAN P182L Polymorphism SSDH_HUMAN H180Y Polymorphism RBGPR_HUMAN S1092T Polymorphism RBGPR_HUMAN T863A Polymorphism SFRS8_HUMAN P421L Polymorphism MANA_HUMAN Y128C Disease MANA_HUMAN R151Q Disease MANA_HUMAN Y254C Disease MANA_HUMAN I139T Disease MANA_HUMAN R294H Disease MANA_HUMAN M50T Disease MANA_HUMAN I397T Disease MANA_HUMAN S101L Disease MANA_HUMAN G249S Disease MANA_HUMAN R218Q Disease MANA_HUMAN R417H Disease MANA_HUMAN M137T Disease MANA_HUMAN D130N Disease AT2B1_HUMAN M267R Polymorphism FGF23_HUMAN R176Q Disease FGF23_HUMAN P195S Polymorphism FGF23_HUMAN R179Q Disease FGF23_HUMAN R179W Disease FGF23_HUMAN S71G Disease FGF23_HUMAN T239M Polymorphism MMRN2_HUMAN D731H Polymorphism MMRN2_HUMAN S49G Polymorphism 3MG_HUMAN R141Q Polymorphism 3MG_HUMAN Y71H Polymorphism 3MG_HUMAN A298S Polymorphism 3MG_HUMAN R120C Polymorphism 3MG_HUMAN A258V Polymorphism 3MG_HUMAN K22Q Polymorphism 3MG_HUMAN P64L Polymorphism ABCA4_HUMAN V1693I Disease ABCA4_HUMAN G991R Disease ABCA4_HUMAN R333W Disease ABCA4_HUMAN L1201R Disease ABCA4_HUMAN R212C Disease ABCA4_HUMAN G72R Disease ABCA4_HUMAN G2059A Polymorphism ABCA4_HUMAN R2263L Disease ABCA4_HUMAN C2150Y Disease ABCA4_HUMAN G65E Disease ABCA4_HUMAN R220C Disease ABCA4_HUMAN C2150R Disease ABCA4_HUMAN S1689P Disease ABCA4_HUMAN S1063P Disease ABCA4_HUMAN G1508C Disease ABCA4_HUMAN G550R Disease ABCA4_HUMAN T901A Polymorphism ABCA4_HUMAN A1038V Disease ABCA4_HUMAN T1537M Disease ABCA4_HUMAN G863A Disease ABCA4_HUMAN E471K Disease ABCA4_HUMAN A1794D Disease ABCA4_HUMAN E328V Disease ABCA4_HUMAN L797P Disease ABCA4_HUMAN F608I Disease ABCA4_HUMAN S1736P Disease ABCA4_HUMAN E1817D Polymorphism ABCA4_HUMAN M1733T Disease ABCA4_HUMAN C1488F Disease ABCA4_HUMAN K2160R Disease ABCA4_HUMAN H2128R Disease ABCA4_HUMAN L1763P Disease ABCA4_HUMAN Q957R Disease ABCA4_HUMAN R1108C Disease ABCA4_HUMAN R1108H Disease ABCA4_HUMAN T1253M Disease ABCA4_HUMAN R1108L Disease ABCA4_HUMAN P1780A Disease ABCA4_HUMAN A549P Disease ABCA4_HUMAN R1097C Disease ABCA4_HUMAN W339G Disease ABCA4_HUMAN S974P Disease ABCA4_HUMAN N965S Disease ABCA4_HUMAN V849A Disease ABCA4_HUMAN G607R Disease ABCA4_HUMAN H423R Polymorphism ABCA4_HUMAN T1526M Disease ABCA4_HUMAN G607W Disease ABCA4_HUMAN G1748R Disease ABCA4_HUMAN D523E Disease ABCA4_HUMAN D846H Polymorphism ABCA4_HUMAN R1443H Disease ABCA4_HUMAN P68R Disease ABCA4_HUMAN D1204N Disease ABCA4_HUMAN V1429A Disease ABCA4_HUMAN P68L Disease ABCA4_HUMAN L541P Disease ABCA4_HUMAN I824T Disease ABCA4_HUMAN S752I Polymorphism ABCA4_HUMAN T972N Disease ABCA4_HUMAN L2241V Disease ABCA4_HUMAN C764Y Disease ABCA4_HUMAN Q636H Disease ABCA4_HUMAN L1631P Disease ABCA4_HUMAN L1940P Disease ABCA4_HUMAN G2146D Disease ABCA4_HUMAN P1380L Disease ABCA4_HUMAN G1975R Disease ABCA4_HUMAN L244P Disease ABCA4_HUMAN R1820P Disease ABCA4_HUMAN V1921M Polymorphism ABCA4_HUMAN E1885K Disease ABCA4_HUMAN L2060R Disease ABCA4_HUMAN V767D Disease ABCA4_HUMAN V2050L Disease ABCA4_HUMAN S765N Disease ABCA4_HUMAN P1486L Disease ABCA4_HUMAN G1886E Disease ABCA4_HUMAN C75G Disease ABCA4_HUMAN R212H Polymorphism ABCA4_HUMAN S765R Disease ABCA4_HUMAN R1300Q Disease ABCA4_HUMAN I1562T Disease ABCA4_HUMAN T971N Disease ABCA4_HUMAN V1072A Disease ABCA4_HUMAN G1091E Disease ABCA4_HUMAN N1799D Disease ABCA4_HUMAN A407V Disease ABCA4_HUMAN Q635K Disease ABCA4_HUMAN G818E Disease ABCA4_HUMAN D1532N Disease ABCA4_HUMAN N1868I Polymorphism ABCA4_HUMAN V935A Disease ABCA4_HUMAN R1055W Disease ABCA4_HUMAN K1031E Disease ABCA4_HUMAN V1896D Disease ABCA4_HUMAN A192T Disease ABCA4_HUMAN N1805D Disease ABCA4_HUMAN D2177N Polymorphism ABCA4_HUMAN A1637T Polymorphism ABCA4_HUMAN R943W Disease ABCA4_HUMAN D249G Disease ABCA4_HUMAN R943Q Polymorphism ABCA4_HUMAN G1961E Disease ABCA4_HUMAN L1430P Disease ABCA4_HUMAN L1525P Disease ABCA4_HUMAN E1122K Disease ABCA4_HUMAN V552I Polymorphism ABCA4_HUMAN C230S Disease ABCA4_HUMAN L1971R Disease ABCA4_HUMAN W821R Disease ABCA4_HUMAN Y340D Disease ABCA4_HUMAN G851D Disease ABCA4_HUMAN R18W Disease ABCA4_HUMAN R2149L Disease ABCA4_HUMAN L2035P Disease ABCA4_HUMAN F1440V Disease ABCA4_HUMAN A1598D Disease ABCA4_HUMAN F1440S Disease ABCA4_HUMAN N247S Disease ABCA4_HUMAN N96H Disease ABCA4_HUMAN V989A Disease ABCA4_HUMAN F525C Disease ABCA4_HUMAN T1112N Disease ABCA4_HUMAN W1408L Disease ABCA4_HUMAN R2106C Disease ABCA4_HUMAN N96D Disease ABCA4_HUMAN G1977S Disease ABCA4_HUMAN L1970F Disease ABCA4_HUMAN L1014R Disease ABCA4_HUMAN A854T Disease ABCA4_HUMAN C1490Y Disease ABCA4_HUMAN E2131K Disease ABCA4_HUMAN S2255I Polymorphism ABCA4_HUMAN T1428M Disease ABCA4_HUMAN S1696N Disease ABCA4_HUMAN Y2071F Disease ABCA4_HUMAN A60E Disease ABCA4_HUMAN R537C Disease ABCA4_HUMAN E1399K Disease ABCA4_HUMAN E2096K Disease ABCA4_HUMAN A60T Disease ABCA4_HUMAN E1036K Disease ABCA4_HUMAN A60V Disease ABCA4_HUMAN R1640Q Disease ABCA4_HUMAN R2107C Disease ABCA4_HUMAN R1640W Disease ABCA4_HUMAN L2027F Disease ABCA4_HUMAN R2107H Disease ABCA4_HUMAN Q190H Disease ABCA4_HUMAN R2077W Disease ABCA4_HUMAN R1129C Disease ABCA4_HUMAN P1776L Disease ABCA4_HUMAN R602Q Disease ABCA4_HUMAN R602W Disease ABCA4_HUMAN V77E Disease ABCA4_HUMAN R2077G Disease ABCA4_HUMAN H1406Y Disease ABCA4_HUMAN L11P Disease ABCA4_HUMAN V1433I Disease ABCA4_HUMAN L1250P Disease ABCA4_HUMAN R1898H Disease ABCA4_HUMAN L2229P Disease ABCA4_HUMAN S100P Disease ABCA4_HUMAN R2139W Disease ABCA4_HUMAN R1129L Disease ABCA4_HUMAN A2216V Polymorphism ABCA4_HUMAN L1388P Disease ABCA4_HUMAN R2038W Disease ABCA4_HUMAN W1408R Disease ABCA4_HUMAN S206R Disease ABCA4_HUMAN G1439D Disease ABCA4_HUMAN H1838Y Disease ABCA4_HUMAN S1071L Disease ABCA4_HUMAN C1488R Disease ABCA4_HUMAN H914R Polymorphism ABCA4_HUMAN R152Q Polymorphism ABCA4_HUMAN R24H Disease ABCA4_HUMAN G978C Disease ABCA4_HUMAN F873L Disease ABCA4_HUMAN C1488Y Disease ABCA4_HUMAN R1843W Disease ABCA4_HUMAN G1578R Disease ABCA4_HUMAN T897I Disease ABCA4_HUMAN Q1513R Disease ABCA4_HUMAN L1729P Disease ABCA4_HUMAN D645N Disease ABCA4_HUMAN N380K Disease ABCA4_HUMAN R653C Disease ABCA4_HUMAN N58K Disease ABCA4_HUMAN L686S Disease ABCA4_HUMAN Q1703K Disease ABCA4_HUMAN K1148T Polymorphism ABCA4_HUMAN P309R Disease ABCA4_HUMAN T959I Disease ABCA4_HUMAN R572P Disease ABCA4_HUMAN V1884E Disease ABCA4_HUMAN R572Q Disease ABCA4_HUMAN Y1652D Disease ABCA4_HUMAN S336C Disease ABCA4_HUMAN I156V Disease ABCA4_HUMAN P1314T Polymorphism ABCA4_HUMAN R1517S Disease ABCA4_HUMAN T716M Disease ABCA4_HUMAN C54Y Disease ABCA4_HUMAN I1846T Polymorphism ABCA4_HUMAN V643G Polymorphism ABCA4_HUMAN T1019M Disease ABCA4_HUMAN R1705L Disease ABCA4_HUMAN T1019A Disease ABCA4_HUMAN V643M Disease ABCA4_HUMAN E1087D Disease ABCA4_HUMAN V931M Disease ABCA4_HUMAN E1022K Disease ABCA4_HUMAN E1087K Disease ABCA4_HUMAN P1948L Polymorphism ABCA4_HUMAN S445R Disease ABCA4_HUMAN R2030Q Disease ABCA4_HUMAN T300N Disease POLK_HUMAN I612V Polymorphism POLK_HUMAN S832N Polymorphism POLK_HUMAN T595I Polymorphism CRYAB_HUMAN P51L Polymorphism CRYAB_HUMAN R120G Disease CRYAB_HUMAN S41Y Polymorphism DDX4_HUMAN G148D Polymorphism CHLE_HUMAN A567T Polymorphism CHLE_HUMAN D98G Polymorphism DLDH_HUMAN K72E Disease DLDH_HUMAN G229C Disease DLDH_HUMAN L331V Polymorphism DLDH_HUMAN R495G Disease DLDH_HUMAN P488L Disease HYAL1_HUMAN E268K Disease 5NT3_HUMAN G241R Disease 5NT3_HUMAN L142P Disease 5NT3_HUMAN N190S Disease 5NT3_HUMAN D98V Disease CELR1_HUMAN C1126R Polymorphism CELR1_HUMAN S664W Polymorphism ZPI_HUMAN T161S Polymorphism ZPI_HUMAN K46R Polymorphism ZPI_HUMAN S61G Polymorphism GEM_HUMAN R43G Polymorphism DLG7_HUMAN G69E Polymorphism NEU2_HUMAN Y21H Disease NEU2_HUMAN C105Y Disease NEU2_HUMAN V67A Disease NEU2_HUMAN C52R Disease NEU2_HUMAN R97C Disease NEU2_HUMAN S17F Disease NEU2_HUMAN G45R Disease NEU2_HUMAN P26L Disease NEU2_HUMAN G119V Polymorphism NEU2_HUMAN R97P Disease NEU2_HUMAN A19T Disease NEU2_HUMAN S87F Disease NEU2_HUMAN A19V Disease NEU2_HUMAN C116R Disease NEU2_HUMAN C116W Disease NEU2_HUMAN C59R Disease NEU2_HUMAN G54R Disease NEU2_HUMAN G54V Disease NEU2_HUMAN C92S Disease NEU2_HUMAN C116G Disease NEU2_HUMAN C104G Disease NEU2_HUMAN C104F Disease NEU2_HUMAN C59Y Disease NEU2_HUMAN C98G Disease NEU2_HUMAN G48V Disease NEU2_HUMAN G96V Disease NEU2_HUMAN G93W Disease NEU2_HUMAN G96C Disease NEU2_HUMAN G96D Disease NEU2_HUMAN C105R Disease NEU2_HUMAN C92Y Disease NEU2_HUMAN P55L Disease NEU2_HUMAN G88S Disease NEU2_HUMAN G88R Disease NEU2_HUMAN R51C Disease NEU2_HUMAN E78G Disease NEU2_HUMAN P82L Polymorphism NEU2_HUMAN L81P Disease PHS_HUMAN C81R Disease PHS_HUMAN R87Q Disease PHS_HUMAN E96K Disease PHS_HUMAN T78I Disease TFR1_HUMAN S142G Polymorphism PPCKC_HUMAN T138I Polymorphism PPCKC_HUMAN R55Q Polymorphism PPCKC_HUMAN I267V Polymorphism PPCKC_HUMAN V368I Polymorphism PPCKC_HUMAN E276K Polymorphism PPCKC_HUMAN L184V Polymorphism PPCKC_HUMAN P427S Polymorphism PPCKC_HUMAN M60T Polymorphism POMT2_HUMAN A54E Polymorphism INAR1_HUMAN L168V Polymorphism INAR1_HUMAN T359M Polymorphism INAR1_HUMAN V307I Polymorphism SIGL9_HUMAN K100E Polymorphism SIGL9_HUMAN S125N Polymorphism SIGL9_HUMAN A315E Polymorphism SIGL9_HUMAN N147K Polymorphism SIGL9_HUMAN A316D Polymorphism SESN2_HUMAN T320A Polymorphism ABTB2_HUMAN H64Q Polymorphism FSBP_HUMAN R226K Polymorphism CNTN6_HUMAN A440S Polymorphism GABT_HUMAN R220K Disease GABT_HUMAN Q56R Polymorphism PUR8_HUMAN A2V Disease PUR8_HUMAN R452P Disease PUR8_HUMAN V364M Disease PUR8_HUMAN S438P Disease PUR8_HUMAN R374W Disease PUR8_HUMAN D430N Disease PUR8_HUMAN R303C Disease PUR8_HUMAN T450S Disease PUR8_HUMAN Y114H Disease PUR8_HUMAN K246E Disease PUR8_HUMAN P100A Disease PUR8_HUMAN A3V Disease PUR8_HUMAN R190Q Disease PUR8_HUMAN L423V Disease PUR8_HUMAN M26L Disease PUR8_HUMAN L311V Disease PUR8_HUMAN R194C Disease PUR8_HUMAN S395R Disease PUR8_HUMAN D268N Disease PUR8_HUMAN R141W Disease PUR8_HUMAN D422Y Disease PUR8_HUMAN I72V Disease PUR8_HUMAN R396H Disease PUR8_HUMAN R426H Disease PUR8_HUMAN P318L Disease PUR8_HUMAN R396C Disease PUR8_HUMAN S447P Disease SLIT2_HUMAN S636P Polymorphism SLIT2_HUMAN S1277F Polymorphism CPNE7_HUMAN F77L Polymorphism CPNE7_HUMAN P633L Polymorphism RXRA_HUMAN P261L Polymorphism RXRA_HUMAN S336I Polymorphism STNB_HUMAN S307P Polymorphism STNB_HUMAN S851A Polymorphism CP2AD_HUMAN F453Y Polymorphism CP2AD_HUMAN R257C Polymorphism CP2AD_HUMAN R101Q Polymorphism CP2AD_HUMAN V323L Polymorphism CP2AD_HUMAN D158E Polymorphism CP2AD_HUMAN R494C Polymorphism CP2AD_HUMAN R25Q Polymorphism CP2A6_HUMAN S29N Polymorphism CP2A6_HUMAN R203S Polymorphism CP2A6_HUMAN R485L Polymorphism CP2A6_HUMAN H160L Polymorphism CP2A6_HUMAN E419D Polymorphism CP2A6_HUMAN I471T Polymorphism CP2A6_HUMAN K194E Polymorphism CP2A6_HUMAN G5R Polymorphism CP2A6_HUMAN R128Q Polymorphism CP2A6_HUMAN G479V Polymorphism SYUG_HUMAN V110E Polymorphism OFD1_HUMAN S74F Disease OFD1_HUMAN S435R Disease COBA1_HUMAN G1516V Disease COBA1_HUMAN G676R Disease COBA1_HUMAN G625V Disease RPOM_HUMAN E555A Polymorphism CRGA_HUMAN L147P Polymorphism RHCE_HUMAN L59I Polymorphism RHCE_HUMAN W15C Polymorphism RHCE_HUMAN N67S Polymorphism RHD_HUMAN M217I Polymorphism GMPR1_HUMAN A234T Polymorphism GMPR1_HUMAN F256I Polymorphism CEP68_HUMAN G74S Polymorphism CD44_HUMAN R417K Polymorphism TYPH_HUMAN G145R Disease TYPH_HUMAN R44Q Disease TYPH_HUMAN S471L Polymorphism TYPH_HUMAN K222R Disease TYPH_HUMAN E289A Disease TYPH_HUMAN G153S Disease PMS1_HUMAN M394T Polymorphism PMS1_HUMAN N632S Polymorphism PMS1_HUMAN Y793H Polymorphism PMS1_HUMAN G501R Polymorphism PMS1_HUMAN E27Q Polymorphism PMS1_HUMAN E720D Polymorphism PMS1_HUMAN R202K Polymorphism PIGQ_HUMAN T13A Polymorphism SLAF1_HUMAN F11L Polymorphism SLAF1_HUMAN P333T Polymorphism NEIL3_HUMAN L443P Polymorphism NEIL3_HUMAN R520G Polymorphism NEIL3_HUMAN P117R Polymorphism EAA3_HUMAN F50Y Polymorphism EAA3_HUMAN A27G Polymorphism KI2L1_HUMAN D184N Polymorphism KI2L1_HUMAN V5F Polymorphism KI2L1_HUMAN P135L Polymorphism KI2L1_HUMAN P175T Polymorphism KI2L1_HUMAN P37R Polymorphism KI2L1_HUMAN R266C Polymorphism KI2L1_HUMAN K237E Polymorphism KI2L1_HUMAN H203R Polymorphism KI2L2_HUMAN R37P Polymorphism KI2L3_HUMAN H71R Polymorphism KI2L3_HUMAN R242I Polymorphism KI2L3_HUMAN P229L Polymorphism KI2L3_HUMAN H34Q Polymorphism KI2L3_HUMAN R318H Polymorphism KI2L3_HUMAN Q56E Polymorphism KI2L3_HUMAN A304T Polymorphism KI2L3_HUMAN L32R Polymorphism KI2L3_HUMAN V9A Polymorphism SC6A3_HUMAN R237Q Polymorphism AUMH_HUMAN A240V Disease ASCC2_HUMAN Q509R Polymorphism CUED1_HUMAN P205S Polymorphism BMP3_HUMAN R192Q Polymorphism S12A6_HUMAN F415S Polymorphism OPA1_HUMAN G300E Disease OPA1_HUMAN R445H Disease OPA1_HUMAN L396R Disease OPA1_HUMAN N158S Polymorphism OPA1_HUMAN R571H Disease OPA1_HUMAN A192V Polymorphism OPA1_HUMAN P167L Polymorphism OPA1_HUMAN T503K Disease OPA1_HUMAN R290Q Disease CR2_HUMAN I993V Polymorphism CR2_HUMAN S639N Polymorphism CR2_HUMAN E1003A Polymorphism GRIK1_HUMAN A332V Polymorphism GRIK1_HUMAN L902S Polymorphism GRIK1_HUMAN A870V Polymorphism GRIK1_HUMAN R862Q Polymorphism GRIK1_HUMAN I757V Polymorphism UCHL1_HUMAN S18Y Polymorphism CCND2_HUMAN G268R Polymorphism SC5A2_HUMAN N654S Disease TRIP6_HUMAN L296F Polymorphism AT5G3_HUMAN G93E Polymorphism CD180_HUMAN N53K Polymorphism CD180_HUMAN S99R Polymorphism CD38_HUMAN R140W Polymorphism KLK3_HUMAN E32K Polymorphism KLK3_HUMAN L132I Polymorphism IMDH1_HUMAN D226N Disease IMDH1_HUMAN V268I Disease IMDH1_HUMAN R224P Disease AP3D1_HUMAN I1072V Polymorphism DEAF1_HUMAN E186V Disease DEAF1_HUMAN R218K Disease DEAF1_HUMAN A545G Disease DEAF1_HUMAN H479L Disease DEAF1_HUMAN Q367H Disease DEAF1_HUMAN E449K Disease DEAF1_HUMAN Q542H Disease DEAF1_HUMAN E498K Disease DEAF1_HUMAN Y397F Disease DEAF1_HUMAN E356H Disease DEAF1_HUMAN K191I Disease DEAF1_HUMAN R530L Disease DEAF1_HUMAN E202D Disease DEAF1_HUMAN K191N Disease DEAF1_HUMAN A545V Disease DEAF1_HUMAN V442A Disease DEAF1_HUMAN S364N Disease DEAF1_HUMAN V370L Disease DEAF1_HUMAN Q468H Disease DEAF1_HUMAN T526N Disease TS1R3_HUMAN C757R Polymorphism FPR1_HUMAN N192K Polymorphism FPR1_HUMAN A346E Polymorphism FPR1_HUMAN L101V Polymorphism NPHP3_HUMAN S360T Disease NPHP3_HUMAN S1252R Disease NPHP3_HUMAN A1221V Disease NPHP3_HUMAN R397H Disease NPHP3_HUMAN L1141P Disease NPHP3_HUMAN N386S Disease NPHP3_HUMAN S1314T Disease TR11B_HUMAN K3N Polymorphism TR11B_HUMAN V104M Polymorphism PROZ_HUMAN R295H Polymorphism PROZ_HUMAN E70K Polymorphism RAD17_HUMAN K535E Polymorphism RAD17_HUMAN L557R Polymorphism RAD17_HUMAN R487L Polymorphism RAD17_HUMAN V32I Polymorphism ATPO_HUMAN K98R Polymorphism CP17A_HUMAN R362C Disease CP17A_HUMAN N177D Disease CP17A_HUMAN P428L Disease CP17A_HUMAN R347C Disease CP17A_HUMAN R358Q Disease CP17A_HUMAN Y64S Disease CP17A_HUMAN R347H Disease CP17A_HUMAN Y329D Disease CP17A_HUMAN R496C Disease CP17A_HUMAN R496H Disease CP17A_HUMAN H373L Disease CP17A_HUMAN F417C Disease CP17A_HUMAN D116V Disease CP17A_HUMAN R96W Disease CP17A_HUMAN W406R Disease CP17A_HUMAN F93C Disease CP17A_HUMAN C22W Polymorphism CP17A_HUMAN P342T Disease CP17A_HUMAN F114V Disease CP17A_HUMAN S106P Disease CP17A_HUMAN P35L Disease CP17A_HUMAN R440H Disease FXR1_HUMAN A614V Polymorphism FXR1_HUMAN N429D Polymorphism NODAL_HUMAN R183Q Disease FREM2_HUMAN T2153S Polymorphism FREM2_HUMAN T2326I Polymorphism FREM2_HUMAN E1972K Disease FREM2_HUMAN R2066C Polymorphism DDX27_HUMAN G766S Polymorphism CXB1_HUMAN F180L Disease CXB1_HUMAN V63I Disease CXB1_HUMAN V95M Disease CXB1_HUMAN E208K Disease CXB1_HUMAN E41K Disease CXB1_HUMAN H94Q Disease CXB1_HUMAN I30N Disease CXB1_HUMAN V120E Disease CXB1_HUMAN H94Y Disease CXB1_HUMAN K103E Disease CXB1_HUMAN M194V Disease CXB1_HUMAN T8P Disease CXB1_HUMAN R142W Disease CXB1_HUMAN S182T Disease CXB1_HUMAN M93V Disease CXB1_HUMAN L156R Disease CXB1_HUMAN R142E Disease CXB1_HUMAN L90H Disease CXB1_HUMAN L156F Disease CXB1_HUMAN P158A Disease CXB1_HUMAN C201R Disease CXB1_HUMAN V189I Disease CXB1_HUMAN C64S Disease CXB1_HUMAN K187E Disease CXB1_HUMAN V136A Disease CXB1_HUMAN Q80R Disease CXB1_HUMAN V23A Disease CXB1_HUMAN V13L Disease CXB1_HUMAN V13M Disease CXB1_HUMAN S128P Disease CXB1_HUMAN W133R Disease CXB1_HUMAN R107W Disease CXB1_HUMAN L204F Disease CXB1_HUMAN R220G Disease CXB1_HUMAN T55I Disease CXB1_HUMAN W3S Disease CXB1_HUMAN W3R Disease CXB1_HUMAN Y7C Disease CXB1_HUMAN C179R Disease CXB1_HUMAN M34V Disease CXB1_HUMAN F29L Disease CXB1_HUMAN G199R Disease CXB1_HUMAN E102G Disease CXB1_HUMAN S49Y Disease CXB1_HUMAN K124N Disease CXB1_HUMAN S85F Disease CXB1_HUMAN A161P Disease CXB1_HUMAN R219H Disease CXB1_HUMAN R219C Disease CXB1_HUMAN W44L Disease CXB1_HUMAN C53S Disease CXB1_HUMAN V84I Disease CXB1_HUMAN F149I Disease CXB1_HUMAN R183S Disease CXB1_HUMAN G59C Disease CXB1_HUMAN S26L Disease CXB1_HUMAN R183H Disease CXB1_HUMAN L89P Disease CXB1_HUMAN P158S Disease CXB1_HUMAN P158R Disease CXB1_HUMAN R183C Disease CXB1_HUMAN H100Y Disease CXB1_HUMAN F235C Disease CXB1_HUMAN L25F Disease CXB1_HUMAN R22P Disease CXB1_HUMAN R22Q Disease CXB1_HUMAN R22G Disease CXB1_HUMAN N205S Disease CXB1_HUMAN R164Q Disease CXB1_HUMAN P87L Disease CXB1_HUMAN P87A Disease CXB1_HUMAN G21D Disease CXB1_HUMAN P87S Disease CXB1_HUMAN P172S Disease CXB1_HUMAN C60F Disease CXB1_HUMAN S50P Disease CXB1_HUMAN L81F Disease CXB1_HUMAN R75W Disease CXB1_HUMAN Y157C Disease CXB1_HUMAN R75P Disease CXB1_HUMAN R75Q Disease CXB1_HUMAN F141L Disease CXB1_HUMAN W133C Disease CXB1_HUMAN G159S Disease CXB1_HUMAN R238H Disease CXB1_HUMAN L56F Disease CXB1_HUMAN I28T Disease CXB1_HUMAN V139M Disease CXB1_HUMAN R164W Disease CXB1_HUMAN N14K Disease CXB1_HUMAN R230C Disease CXB1_HUMAN T86N Disease CXB1_HUMAN S85C Disease CXB1_HUMAN T86A Disease CXB1_HUMAN R230L Disease CXB1_HUMAN V38M Disease CXB1_HUMAN R15W Disease CXB1_HUMAN W77S Disease CXB1_HUMAN R15Q Disease CXB1_HUMAN I20S Disease CXB1_HUMAN T86S Disease CXB1_HUMAN V43M Disease CXB1_HUMAN I203N Disease CXB1_HUMAN V181M Disease CXB1_HUMAN Y65C Disease CXB1_HUMAN M34T Disease CXB1_HUMAN V189G Disease CXB1_HUMAN Y65H Disease CXB1_HUMAN G12S Disease CXB1_HUMAN F193C Disease CXB1_HUMAN S198F Disease CXB1_HUMAN R215W Disease CXB1_HUMAN P184R Disease CXB1_HUMAN C173R Disease CXB1_HUMAN E186K Disease CXB1_HUMAN Y135C Disease CXB1_HUMAN L83P Disease CXB1_HUMAN Y160H Disease CXB1_HUMAN A39V Disease CXB1_HUMAN A40V Disease CXB1_HUMAN A39P Disease CXB1_HUMAN C168R Disease CXB1_HUMAN H16P Disease CXB1_HUMAN D178Y Disease CXB1_HUMAN S11G Disease CXB1_HUMAN V35M Disease APOC1_HUMAN I16M Polymorphism IL1FA_HUMAN A51D Polymorphism IL1FA_HUMAN I44T Polymorphism MLTK_HUMAN L531S Polymorphism RT02_HUMAN H294R Polymorphism RAG1_HUMAN R561C Disease RAG1_HUMAN L885R Disease RAG1_HUMAN K820R Polymorphism RAG1_HUMAN D429G Disease RAG1_HUMAN R561H Disease RAG1_HUMAN R624H Disease RAG1_HUMAN A156V Polymorphism RAG1_HUMAN R396H Disease RAG1_HUMAN Y912C Disease RAG1_HUMAN R244G Polymorphism RAG1_HUMAN R737H Disease RAG1_HUMAN E722K Disease RAG1_HUMAN E880K Polymorphism RAG1_HUMAN R396C Disease RAG1_HUMAN R249H Polymorphism RAG1_HUMAN D302E Polymorphism SERHL_HUMAN S46N Polymorphism SYG_HUMAN G294R Disease SYG_HUMAN G580R Disease SYG_HUMAN E125G Disease SYG_HUMAN L183P Disease CDK4_HUMAN R24H Disease CDK4_HUMAN N41S Disease CDK4_HUMAN R24C Disease AL4A1_HUMAN S352L Disease AL4A1_HUMAN P16L Polymorphism MAGD2_HUMAN Q266R Polymorphism F16P1_HUMAN G163S Disease F16P1_HUMAN V324A Polymorphism F16P1_HUMAN F232I Polymorphism F16P1_HUMAN R254L Polymorphism F16P1_HUMAN K217R Polymorphism F16P1_HUMAN A176D Disease DPYD_HUMAN V995F Polymorphism DPYD_HUMAN I543V Polymorphism DPYD_HUMAN R235W Polymorphism DPYD_HUMAN R886H Polymorphism DPYD_HUMAN C29R Polymorphism DPYD_HUMAN V732I Polymorphism DPYD_HUMAN S534N Polymorphism TPO_HUMAN G116E Polymorphism TPO_HUMAN L14P Polymorphism XRCC3_HUMAN T241M Polymorphism XRCC3_HUMAN R94H Polymorphism ODBB_HUMAN H206R Disease IFNW1_HUMAN R95S Polymorphism ORC3_HUMAN A626T Polymorphism ORC3_HUMAN R588C Polymorphism ORC3_HUMAN Q126R Polymorphism ORC3_HUMAN T287M Polymorphism ORC3_HUMAN V217I Polymorphism ORC3_HUMAN Q94K Polymorphism ORC3_HUMAN T389P Polymorphism ORC3_HUMAN I247V Polymorphism STF1_HUMAN R92Q Disease STF1_HUMAN R255L Disease STF1_HUMAN G35E Disease BAT2_HUMAN P106L Polymorphism BAT2_HUMAN P1503L Polymorphism BAT2_HUMAN P2130L Polymorphism BAT2_HUMAN Q694K Polymorphism BAT2_HUMAN V1775M Polymorphism BAT2_HUMAN G1285A Polymorphism BAT2_HUMAN K544T Polymorphism BAT2_HUMAN G1744A Polymorphism BAT2_HUMAN D742E Polymorphism BAT2_HUMAN V1895L Polymorphism BAT2_HUMAN R1740H Polymorphism BAT2_HUMAN G1415A Polymorphism BAT2_HUMAN P57R Polymorphism BAT2_HUMAN P2006S Polymorphism SEM5B_HUMAN D782V Polymorphism SEM5B_HUMAN G970V Polymorphism SEM5B_HUMAN T162I Polymorphism CYTC_HUMAN A25T Polymorphism CYTC_HUMAN L94Q Disease NUD11_HUMAN S39N Polymorphism TECTA_HUMAN S2100T Polymorphism TECTA_HUMAN Y1870C Disease TECTA_HUMAN N1724S Polymorphism TECTA_HUMAN G371R Polymorphism TECTA_HUMAN L1820F Disease TECTA_HUMAN C1057S Disease TECTA_HUMAN G1824D Disease TECTA_HUMAN A932V Polymorphism TECTA_HUMAN C1619S Disease S39A4_HUMAN Q303H Disease S39A4_HUMAN T114A Polymorphism S39A4_HUMAN G374R Disease S39A4_HUMAN L410P Disease S39A4_HUMAN P84L Disease S39A4_HUMAN G630R Disease S39A4_HUMAN R95C Disease S39A4_HUMAN N106K Disease S39A4_HUMAN L372P Disease S39A4_HUMAN C309Y Disease S39A4_HUMAN G526R Disease S39A4_HUMAN G330D Disease S39A4_HUMAN A357T Polymorphism S39A4_HUMAN R251W Disease S39A4_HUMAN T58A Polymorphism S39A4_HUMAN P200L Disease TRPM2_HUMAN D543E Polymorphism MINT_HUMAN L1091P Polymorphism MINT_HUMAN A970V Polymorphism MINT_HUMAN N2360D Polymorphism S28A2_HUMAN L163W Polymorphism CLSPN_HUMAN N525S Polymorphism PGAM4_HUMAN R90Q Polymorphism PGAM4_HUMAN I175T Polymorphism PGAM4_HUMAN R40C Polymorphism PTN22_HUMAN R620W Polymorphism AMPD1_HUMAN P48L Polymorphism AMPD1_HUMAN R388W Disease AMPD1_HUMAN R425H Disease QOR_HUMAN P66S Polymorphism QOR_HUMAN I176V Polymorphism PERT_HUMAN Y453D Disease PERT_HUMAN V433M Disease PERT_HUMAN R665W Disease PERT_HUMAN E799K Disease PERT_HUMAN I447F Disease PERT_HUMAN A257S Polymorphism PERT_HUMAN R693W Disease PERT_HUMAN A326T Disease PERT_HUMAN A53P Disease PERT_HUMAN L458P Disease PERT_HUMAN W527C Disease PERT_HUMAN S398T Polymorphism PERT_HUMAN P499L Disease PERT_HUMAN N307T Disease PERT_HUMAN A373S Polymorphism PERT_HUMAN D240N Disease PERT_HUMAN G771R Disease PERT_HUMAN D796Y Disease PERT_HUMAN G493S Disease PERT_HUMAN C808R Disease PERT_HUMAN Q660E Disease PERT_HUMAN R491H Disease PERT_HUMAN P725T Polymorphism PERT_HUMAN R648Q Disease SEPT9_HUMAN R76C Polymorphism SEPT9_HUMAN P145L Polymorphism SEPT9_HUMAN V576M Polymorphism SC5A7_HUMAN I89V Polymorphism AREG_HUMAN D80V Polymorphism AREG_HUMAN Y81C Polymorphism VP13B_HUMAN L2193R Disease BZRP_HUMAN H162R Polymorphism BZRP_HUMAN A147T Polymorphism BZRP_HUMAN E169Q Polymorphism RNAS6_HUMAN R89Q Polymorphism CCR4_HUMAN C178S Polymorphism CCR4_HUMAN L130V Polymorphism HPSE_HUMAN N260S Disease NELF_HUMAN T480A Disease OPRM_HUMAN A6V Polymorphism OPRM_HUMAN R260H Polymorphism OPRM_HUMAN D274N Polymorphism OPRM_HUMAN R265C Polymorphism OPRM_HUMAN N152D Polymorphism OPRM_HUMAN N40D Polymorphism OPRM_HUMAN S147C Polymorphism PEND_HUMAN R409P Disease PEND_HUMAN C565Y Disease PEND_HUMAN A372V Disease PEND_HUMAN S133T Disease PEND_HUMAN Y105C Disease PEND_HUMAN Y530H Disease PEND_HUMAN S694P Disease PEND_HUMAN D271H Disease PEND_HUMAN T721M Disease PEND_HUMAN Q446R Disease PEND_HUMAN I455F Disease PEND_HUMAN R409H Disease PEND_HUMAN S28R Disease PEND_HUMAN N457K Disease PEND_HUMAN N392Y Disease PEND_HUMAN Y78C Disease PEND_HUMAN G102R Disease PEND_HUMAN V653A Disease PEND_HUMAN K369E Disease PEND_HUMAN A411P Disease PEND_HUMAN G209V Disease PEND_HUMAN S137P Disease PEND_HUMAN L236P Disease PEND_HUMAN V480D Disease PEND_HUMAN H723R Disease PEND_HUMAN E29Q Disease PEND_HUMAN L676Q Disease PEND_HUMAN E384G Disease PEND_HUMAN F335L Disease PEND_HUMAN S391N Disease PEND_HUMAN T193I Disease PEND_HUMAN A106D Disease PEND_HUMAN V138F Disease PEND_HUMAN L117F Disease PEND_HUMAN Y556C Disease PEND_HUMAN S90L Disease PEND_HUMAN S552I Disease PEND_HUMAN Y556H Disease PEND_HUMAN T132I Disease PEND_HUMAN G139A Disease PEND_HUMAN T410M Disease PEND_HUMAN L597S Disease PEND_HUMAN I490L Disease PEND_HUMAN V239D Disease PEND_HUMAN T416P Disease PEND_HUMAN G672E Disease PEND_HUMAN L445W Disease PEND_HUMAN S252P Disease PEND_HUMAN D724N Disease PEND_HUMAN G497S Disease PEND_HUMAN F667C Disease PGAM2_HUMAN E88A Disease PGAM2_HUMAN R89W Disease PGAM2_HUMAN G96D Disease COIA1_HUMAN V841I Polymorphism COIA1_HUMAN Q49L Polymorphism COIA1_HUMAN G111R Polymorphism COIA1_HUMAN P886R Polymorphism NALP4_HUMAN Q925L Polymorphism CRLF1_HUMAN L374R Disease CRLF1_HUMAN R81H Disease IRK13_HUMAN T175I Polymorphism CO8B_HUMAN R117G Polymorphism DYH11_HUMAN S3765P Polymorphism DYH11_HUMAN L3715V Polymorphism DYH11_HUMAN A1038T Polymorphism DYH11_HUMAN R3004Q Disease DYH11_HUMAN A3474T Polymorphism DYH11_HUMAN Q639R Polymorphism DYH11_HUMAN S654C Polymorphism DYH11_HUMAN S2641N Polymorphism DYH11_HUMAN T4177I Polymorphism DYH11_HUMAN I2682V Polymorphism DYH11_HUMAN D1640G Polymorphism DYH11_HUMAN V1023A Polymorphism CREG2_HUMAN P96Q Polymorphism PADI3_HUMAN V171M Polymorphism PADI3_HUMAN I52V Polymorphism ANXA8_HUMAN A6S Polymorphism PTN1_HUMAN G381S Polymorphism PTN1_HUMAN P387L Polymorphism IBP3_HUMAN H158P Polymorphism TA2R_HUMAN A160T Polymorphism TA2R_HUMAN V217I Polymorphism TA2R_HUMAN V176E Polymorphism TA2R_HUMAN E94V Polymorphism TA2R_HUMAN C68S Polymorphism TA2R_HUMAN V80E Polymorphism HLAF_HUMAN S272P Polymorphism PHYIP_HUMAN R21S Polymorphism ULE1B_HUMAN L307R Polymorphism THEX1_HUMAN L15P Polymorphism CYLC2_HUMAN K190E Polymorphism CYLC2_HUMAN G208D Polymorphism CYLC2_HUMAN A319E Polymorphism MCM3_HUMAN S105G Polymorphism MCM3_HUMAN R774W Polymorphism MCM3_HUMAN E777K Polymorphism MCM3_HUMAN D280V Polymorphism MCM3_HUMAN I590L Polymorphism MCM3_HUMAN F287L Polymorphism MUS81_HUMAN L189F Polymorphism IL12B_HUMAN V33I Polymorphism ST1E1_HUMAN D22Y Polymorphism TSN6_HUMAN A108T Polymorphism CTDSL_HUMAN S121P Polymorphism CTDSL_HUMAN N127S Polymorphism CTDSL_HUMAN V132G Polymorphism CHSTA_HUMAN D258N Polymorphism RFC5_HUMAN A13T Polymorphism S15A1_HUMAN R459C Polymorphism S15A1_HUMAN G419A Polymorphism S15A1_HUMAN S117N Polymorphism S15A1_HUMAN V122M Polymorphism S15A1_HUMAN V450I Polymorphism S15A1_HUMAN T451N Polymorphism ZN294_HUMAN S403L Polymorphism FCGR1_HUMAN L105P Polymorphism FSHB_HUMAN S20I Polymorphism HBXAP_HUMAN S465P Polymorphism SODC_HUMAN G85R Disease SODC_HUMAN H46R Disease SODC_HUMAN L106V Disease SODC_HUMAN D90A Disease SODC_HUMAN R115G Disease SODC_HUMAN A89V Disease SODC_HUMAN I113T Disease SODC_HUMAN E21G Disease SODC_HUMAN F45C Disease SODC_HUMAN D101G Disease SODC_HUMAN E49K Disease SODC_HUMAN V7E Disease SODC_HUMAN E21K Disease SODC_HUMAN D90V Disease SODC_HUMAN G93A Disease SODC_HUMAN H48Q Disease SODC_HUMAN G93C Disease SODC_HUMAN D125H Disease SODC_HUMAN I149T Disease SODC_HUMAN G93D Disease SODC_HUMAN G41S Disease SODC_HUMAN G72S Disease SODC_HUMAN G114A Disease SODC_HUMAN A4V Disease SODC_HUMAN V148I Disease SODC_HUMAN L84V Disease SODC_HUMAN G93R Disease SODC_HUMAN A4S Disease SODC_HUMAN G93V Disease SODC_HUMAN C6F Disease SODC_HUMAN D76Y Disease SODC_HUMAN V148G Disease SODC_HUMAN L8V Disease SODC_HUMAN V14G Disease SODC_HUMAN L8Q Disease SODC_HUMAN I151T Disease SODC_HUMAN E100G Disease SODC_HUMAN G12R Disease SODC_HUMAN I112T Disease SODC_HUMAN L84F Disease SODC_HUMAN V14M Disease SODC_HUMAN N139K Disease SODC_HUMAN S134N Disease SODC_HUMAN I112M Disease SODC_HUMAN G108V Disease SODC_HUMAN E100K Disease SODC_HUMAN I104F Disease SODC_HUMAN G37R Disease SODC_HUMAN N86S Disease SODC_HUMAN L126S Disease SODC_HUMAN L38R Disease SODC_HUMAN D124V Disease SODC_HUMAN L38V Disease SODC_HUMAN D101N Disease SODC_HUMAN A145T Disease SODC_HUMAN L144S Disease SODC_HUMAN S105L Disease SODC_HUMAN C146R Disease SODC_HUMAN H43R Disease SODC_HUMAN N65S Disease SODC_HUMAN G41D Disease SODC_HUMAN A4T Disease SODC_HUMAN L144F Disease SODC_HUMAN L67R Disease FHR1_HUMAN Q175E Polymorphism FHR1_HUMAN V159L Polymorphism FHR1_HUMAN Y157H Polymorphism ZC3H3_HUMAN M6I Polymorphism ZC3H3_HUMAN F149Y Polymorphism ZC3H3_HUMAN S399G Polymorphism ZC3H3_HUMAN G452S Polymorphism ZC3H3_HUMAN E151D Polymorphism N2DL4_HUMAN Y82N Polymorphism RBP2_HUMAN P1892A Polymorphism RBP2_HUMAN R784K Polymorphism TLR4_HUMAN N329S Polymorphism TLR4_HUMAN Q834H Polymorphism TLR4_HUMAN Q510H Polymorphism TLR4_HUMAN R763H Polymorphism TLR4_HUMAN F443L Polymorphism TLR4_HUMAN T175A Polymorphism TLR4_HUMAN Q188R Polymorphism TLR4_HUMAN D299G Polymorphism TLR4_HUMAN T399I Polymorphism TLR4_HUMAN S400N Polymorphism TLR4_HUMAN K694R Polymorphism TLR4_HUMAN F342Y Polymorphism TLR4_HUMAN E474K Polymorphism TLR4_HUMAN C246S Polymorphism TAF1C_HUMAN A591G Polymorphism TAF1C_HUMAN L575M Polymorphism TAF1C_HUMAN S387L Polymorphism TAF1C_HUMAN R357H Polymorphism TAF1C_HUMAN G635S Polymorphism TAF1C_HUMAN P793L Polymorphism TAF1C_HUMAN P573L Polymorphism TAF1C_HUMAN H518Y Polymorphism TAF1C_HUMAN T791M Polymorphism TAF1C_HUMAN R816H Polymorphism TAF1C_HUMAN S304F Polymorphism LCTL_HUMAN A240T Polymorphism IL7RA_HUMAN V356I Polymorphism IL7RA_HUMAN I138V Polymorphism IL7RA_HUMAN T66I Polymorphism IL7RA_HUMAN T244I Polymorphism IL7RA_HUMAN E113D Polymorphism I15RA_HUMAN N182T Polymorphism K1683_HUMAN L44P Polymorphism K1683_HUMAN L235V Polymorphism K1683_HUMAN S285T Polymorphism K1683_HUMAN P908H Polymorphism K1683_HUMAN M359T Polymorphism 2DMA_HUMAN G181A Polymorphism 2DMA_HUMAN H162Q Polymorphism 2DMA_HUMAN V166I Polymorphism 2DMA_HUMAN R210C Polymorphism 2DMA_HUMAN R210H Polymorphism 2DMA_HUMAN D163H Polymorphism RINI_HUMAN P169L Polymorphism IF2M_HUMAN I556V Polymorphism MANR1_HUMAN T167I Polymorphism GELS_HUMAN D214Y Disease GELS_HUMAN D214N Disease ING3_HUMAN D20G Disease LYAM1_HUMAN E201Q Polymorphism LYAM1_HUMAN F193L Polymorphism LYAM1_HUMAN N369D Polymorphism LYAM1_HUMAN P213S Polymorphism API5_HUMAN G493S Polymorphism API5_HUMAN M300V Polymorphism API5_HUMAN P276S Polymorphism CAV3_HUMAN N33K Disease CAV3_HUMAN C72W Disease CAV3_HUMAN R27Q Disease CAV3_HUMAN D28E Disease CAV3_HUMAN A46T Disease CAV3_HUMAN T64P Disease CAV3_HUMAN A46V Disease CAV3_HUMAN P105L Disease CAV3_HUMAN A93T Disease CAV3_HUMAN V44E Disease CAV3_HUMAN G56S Disease CAV3_HUMAN L87P Disease S19A2_HUMAN D93H Disease S19A2_HUMAN G172D Disease S19A2_HUMAN S143F Disease BHMT_HUMAN Q239R Polymorphism ESR1_HUMAN G160C Polymorphism ESR1_HUMAN G77S Polymorphism MY18B_HUMAN G234V Disease MY18B_HUMAN W389C Disease MY18B_HUMAN Q2347R Polymorphism MY18B_HUMAN E1715D Disease MY18B_HUMAN R1195Q Disease MY18B_HUMAN T590M Disease MY18B_HUMAN R661W Disease MY18B_HUMAN R1095L Disease MY18B_HUMAN R2381H Disease MY18B_HUMAN R379Q Disease MY18B_HUMAN G2295C Disease MY18B_HUMAN D2554E Disease MY18B_HUMAN K347N Disease MY18B_HUMAN A1970E Disease MY18B_HUMAN E1708K Disease MY18B_HUMAN A835G Disease MY18B_HUMAN P1238T Disease MY18B_HUMAN P1238Q Disease CBG_HUMAN L115H Disease CBG_HUMAN D389N Disease IL4RA_HUMAN C431R Polymorphism IL4RA_HUMAN I75V Polymorphism IL4RA_HUMAN S387L Polymorphism IL4RA_HUMAN V579I Polymorphism IL4RA_HUMAN S752A Polymorphism IL4RA_HUMAN P675S Polymorphism IL4RA_HUMAN S786P Polymorphism IL4RA_HUMAN S436L Polymorphism IL4RA_HUMAN S503P Polymorphism IL4RA_HUMAN Q576R Polymorphism IL4RA_HUMAN E400A Polymorphism TMED5_HUMAN T175I Polymorphism VIPR2_HUMAN R412H Polymorphism VIPR2_HUMAN A39T Polymorphism PRGC1_HUMAN T612M Polymorphism PRGC1_HUMAN G482S Polymorphism AGAL_HUMAN H46R Disease AGAL_HUMAN E66Q Disease AGAL_HUMAN H46Y Disease AGAL_HUMAN N263S Disease AGAL_HUMAN W226R Disease AGAL_HUMAN G85D Disease AGAL_HUMAN I91T Disease AGAL_HUMAN D264V Disease AGAL_HUMAN D165V Disease AGAL_HUMAN G328A Disease AGAL_HUMAN G328R Disease AGAL_HUMAN C56F Disease AGAL_HUMAN C56G Disease AGAL_HUMAN N215S Disease AGAL_HUMAN S235C Disease AGAL_HUMAN G138R Disease AGAL_HUMAN S148R Disease AGAL_HUMAN R112H Disease AGAL_HUMAN C56Y Disease AGAL_HUMAN R112C Disease AGAL_HUMAN V269A Disease AGAL_HUMAN A230T Disease AGAL_HUMAN R49P Disease AGAL_HUMAN R49S Disease AGAL_HUMAN G183D Disease AGAL_HUMAN Q327K Disease AGAL_HUMAN D266N Disease AGAL_HUMAN L32P Disease AGAL_HUMAN R49L Disease AGAL_HUMAN A143P Disease AGAL_HUMAN C378Y Disease AGAL_HUMAN D92H Disease AGAL_HUMAN Q280H Disease AGAL_HUMAN P205T Disease AGAL_HUMAN A143T Disease AGAL_HUMAN M187V Disease AGAL_HUMAN D92Y Disease AGAL_HUMAN P146S Disease AGAL_HUMAN Q279H Disease AGAL_HUMAN D266V Disease AGAL_HUMAN F113S Disease AGAL_HUMAN Y216D Disease AGAL_HUMAN L131P Disease AGAL_HUMAN Q279E Disease AGAL_HUMAN D231N Disease AGAL_HUMAN P259R Disease AGAL_HUMAN F113L Disease AGAL_HUMAN D266H Disease AGAL_HUMAN A20P Disease AGAL_HUMAN S297F Disease AGAL_HUMAN R363H Disease AGAL_HUMAN D93G Disease AGAL_HUMAN A156T Disease AGAL_HUMAN A156V Disease AGAL_HUMAN D313Y Disease AGAL_HUMAN I242N Disease AGAL_HUMAN R342Q Disease AGAL_HUMAN G361R Disease AGAL_HUMAN N272K Disease AGAL_HUMAN M284T Disease AGAL_HUMAN E358K Disease AGAL_HUMAN I219N Disease AGAL_HUMAN M296V Disease AGAL_HUMAN N298S Disease AGAL_HUMAN L89R Disease AGAL_HUMAN L89P Disease AGAL_HUMAN R356W Disease AGAL_HUMAN P40S Disease AGAL_HUMAN G163V Disease AGAL_HUMAN G128E Disease AGAL_HUMAN P40L Disease AGAL_HUMAN M296I Disease AGAL_HUMAN G35R Disease AGAL_HUMAN C52R Disease AGAL_HUMAN C52S Disease AGAL_HUMAN M267I Disease AGAL_HUMAN R100T Disease AGAL_HUMAN R100K Disease AGAL_HUMAN W95S Disease AGAL_HUMAN A97V Disease AGAL_HUMAN N224D Disease AGAL_HUMAN G373S Disease AGAL_HUMAN P409A Disease AGAL_HUMAN C142R Disease AGAL_HUMAN P259L Disease AGAL_HUMAN N34S Disease AGAL_HUMAN C142Y Disease AGAL_HUMAN G260A Disease AGAL_HUMAN R227Q Disease AGAL_HUMAN G373D Disease AGAL_HUMAN P409T Disease AGAL_HUMAN S148N Disease AGAL_HUMAN C202W Disease AGAL_HUMAN W340R Disease AGAL_HUMAN Y86C Disease AGAL_HUMAN C202Y Disease AGAL_HUMAN C172Y Disease AGAL_HUMAN I289F Disease AGAL_HUMAN W236L Disease AGAL_HUMAN N224S Disease AGAL_HUMAN C172R Disease AGAL_HUMAN E341K Disease AGAL_HUMAN W287G Disease AGAL_HUMAN W287C Disease AGAL_HUMAN A288D Disease AGAL_HUMAN W236C Disease AGAL_HUMAN W47G Disease AGAL_HUMAN R301Q Disease AGAL_HUMAN C94Y Disease AGAL_HUMAN M42V Disease AGAL_HUMAN P265R Disease AGAL_HUMAN C94S Disease AGAL_HUMAN Y134S Disease AGAL_HUMAN D170V Disease AGAL_HUMAN A377D Disease AGAL_HUMAN M72V Disease AGAL_HUMAN E59K Disease AGAL_HUMAN N298H Disease AGAL_HUMAN N320Y Disease AGAL_HUMAN N298K Disease AGAL_HUMAN D244N Disease AGAL_HUMAN D244H Disease AGAL_HUMAN N320K Disease AGAL_HUMAN W162C Disease AGAL_HUMAN G144V Disease AGAL_HUMAN C223G Disease AGAL_HUMAN V316E Disease AGAL_HUMAN A31V Disease AGAL_HUMAN W162R Disease AGAL_HUMAN Q321E Disease AGAL_HUMAN G261D Disease AGAL_HUMAN L166V Disease AGAL_HUMAN G258R Disease TRYB1_HUMAN G23V Polymorphism TRYB1_HUMAN A85T Polymorphism TRYB1_HUMAN N132K Polymorphism TRYB1_HUMAN A18V Polymorphism TRYB1_HUMAN P170S Polymorphism TRYB1_HUMAN R216Q Polymorphism TRYB1_HUMAN D162N Polymorphism TRYB1_HUMAN T215S Polymorphism TRYB1_HUMAN T141A Polymorphism TRYA1_HUMAN K221Q Polymorphism ITA2B_HUMAN Y968N Polymorphism ITA2B_HUMAN E355K Disease ITA2B_HUMAN Q778P Disease ITA2B_HUMAN R358H Disease ITA2B_HUMAN G449D Disease ITA2B_HUMAN P176L Disease ITA2B_HUMAN P176A Disease ITA2B_HUMAN F320S Disease ITA2B_HUMAN I874S Polymorphism ITA2B_HUMAN G273D Disease ITA2B_HUMAN T40I Polymorphism S40A1_HUMAN A77D Disease S40A1_HUMAN R561G Polymorphism S40A1_HUMAN G323V Disease S40A1_HUMAN D157G Disease S40A1_HUMAN Q182H Disease S40A1_HUMAN M432V Polymorphism S40A1_HUMAN Q248H Polymorphism S40A1_HUMAN N144H Disease SPO11_HUMAN T36A Polymorphism CHM4A_HUMAN R153G Polymorphism LSP1_HUMAN Q229K Polymorphism LSP1_HUMAN A100T Polymorphism ASM_HUMAN G577S Disease ASM_HUMAN Y446C Disease ASM_HUMAN S248R Disease ASM_HUMAN G242R Disease ASM_HUMAN H421Y Disease ASM_HUMAN P371S Disease ASM_HUMAN H319Y Disease ASM_HUMAN N383S Disease ASM_HUMAN Y537H Disease ASM_HUMAN F463S Disease ASM_HUMAN W391G Disease ASM_HUMAN S436R Disease ASM_HUMAN N389T Disease ASM_HUMAN L302P Disease ASM_HUMAN M382I Disease ASM_HUMAN E246Q Disease ASM_HUMAN R496L Disease ASM_HUMAN P475L Disease HNF4A_HUMAN T130I Polymorphism HNF4A_HUMAN V393I Disease HNF4A_HUMAN R127W Disease HNF4A_HUMAN E276Q Disease HNF4A_HUMAN P436S Polymorphism CCNE2_HUMAN N387S Polymorphism NOE2_HUMAN R106Q Polymorphism RAF1_HUMAN P308L Polymorphism DYM_HUMAN E87K Disease DYM_HUMAN N469Y Disease FUMH_HUMAN M328R Disease FUMH_HUMAN D425V Disease FUMH_HUMAN R233H Disease FUMH_HUMAN F312C Disease FUMH_HUMAN G282V Disease FUMH_HUMAN N107T Disease FUMH_HUMAN A117P Disease FUMH_HUMAN A308T Disease FUMH_HUMAN Q185R Disease FUMH_HUMAN H180R Disease FUMH_HUMAN K230R Disease VMAT1_HUMAN S98T Polymorphism VMAT1_HUMAN I136T Polymorphism VMAT1_HUMAN T4P Polymorphism KLK11_HUMAN G17E Polymorphism CBPB2_HUMAN T347I Polymorphism HUTH_HUMAN P259L Disease HUTH_HUMAN R322P Disease HUTH_HUMAN R208L Disease HUTH_HUMAN V439I Polymorphism HUTH_HUMAN R206T Disease DRR1_HUMAN P19L Disease DRR1_HUMAN L15M Disease LPPL_HUMAN V27A Polymorphism ERG24_HUMAN I299T Polymorphism HHIP_HUMAN I341V Polymorphism LIRB2_HUMAN H20R Polymorphism LIRB2_HUMAN D161E Polymorphism LIRB2_HUMAN W306C Polymorphism LIRB2_HUMAN Y300H Polymorphism MASTL_HUMAN E167D Disease MASTL_HUMAN P620A Polymorphism GNPAT_HUMAN R211C Disease GNPAT_HUMAN R211H Disease PPIL3_HUMAN D146E Polymorphism COLQ_HUMAN C445Y Disease COLQ_HUMAN R411Q Disease COLQ_HUMAN D342E Disease COLQ_HUMAN P59Q Disease COLQ_HUMAN Y431S Disease SKIL_HUMAN V38A Polymorphism CO5A3_HUMAN V1691I Polymorphism CO5A3_HUMAN I1594M Polymorphism CO5A3_HUMAN R1207P Polymorphism CO5A3_HUMAN V1428M Polymorphism CO5A3_HUMAN R134H Polymorphism SFRP5_HUMAN A7G Polymorphism ACADV_HUMAN R456H Disease ACADV_HUMAN G294E Disease ACADV_HUMAN S623F Polymorphism ACADV_HUMAN R366C Disease ACADV_HUMAN A359S Polymorphism ACADV_HUMAN R366H Disease ACADV_HUMAN K382Q Disease ACADV_HUMAN E218K Disease ACADV_HUMAN D454N Disease ACADV_HUMAN T260M Disease ACADV_HUMAN R615Q Disease ACADV_HUMAN M352V Disease ACADV_HUMAN R469W Disease ACADV_HUMAN R453Q Disease ACADV_HUMAN V174M Disease ACADV_HUMAN R469Q Disease ACADV_HUMAN R613W Disease ACADV_HUMAN V317A Disease ACADV_HUMAN A490P Disease ACADV_HUMAN D405H Disease ACADV_HUMAN K247T Disease ACADV_HUMAN G185S Disease ACADV_HUMAN F458L Disease ACADV_HUMAN A281D Disease ACADV_HUMAN K247E Disease ACADV_HUMAN L243R Disease ACADV_HUMAN G463E Disease ACADV_HUMAN R459W Disease ACADV_HUMAN G441D Disease ACADV_HUMAN K299N Disease ACADV_HUMAN T158N Disease ACADV_HUMAN L502P Disease ACADV_HUMAN V283A Disease ACADV_HUMAN E534K Disease ACADV_HUMAN L602I Disease ACADV_HUMAN G290D Disease ACADV_HUMAN G43D Disease ACADV_HUMAN R450H Disease ACADV_HUMAN Q159R Disease ACADV_HUMAN A213P Disease ODO2_HUMAN A213P Polymorphism ODO2_HUMAN P384T Polymorphism ECM1_HUMAN F167I Disease ECM1_HUMAN S535F Polymorphism ECM1_HUMAN T130M Polymorphism ECM1_HUMAN G528R Polymorphism ECM1_HUMAN G415S Polymorphism CRBA4_HUMAN T83M Polymorphism K6PL_HUMAN G80A Polymorphism K6PL_HUMAN W150R Polymorphism FOXP2_HUMAN R553H Disease AQP2_HUMAN V71M Disease AQP2_HUMAN T125M Disease AQP2_HUMAN S216P Disease AQP2_HUMAN P185A Disease AQP2_HUMAN C181W Disease AQP2_HUMAN R187C Disease AQP2_HUMAN V168M Disease AQP2_HUMAN A47V Disease AQP2_HUMAN E258K Disease AQP2_HUMAN G100V Disease AQP2_HUMAN G64R Disease AQP2_HUMAN L22V Disease AQP2_HUMAN N68S Disease AQP2_HUMAN W202C Disease AQP2_HUMAN A147T Disease AQP2_HUMAN G175R Disease AQP2_HUMAN A190T Disease AQP2_HUMAN P262L Disease AQP2_HUMAN V194I Polymorphism AQP2_HUMAN T126M Disease AQP2_HUMAN L28P Disease AQP2_HUMAN Q57P Disease IL24_HUMAN V131L Polymorphism IL24_HUMAN H125R Polymorphism IL24_HUMAN Y124H Polymorphism SETBP_HUMAN P1076T Polymorphism HEM4_HUMAN A104V Disease HEM4_HUMAN Y19C Disease HEM4_HUMAN I219S Disease HEM4_HUMAN S47P Disease HEM4_HUMAN G225S Disease HEM4_HUMAN I129T Disease HEM4_HUMAN T62A Disease HEM4_HUMAN A66V Disease HEM4_HUMAN A69T Disease HEM4_HUMAN C73R Disease HEM4_HUMAN S212P Disease HEM4_HUMAN L4F Disease HEM4_HUMAN V3F Disease HEM4_HUMAN T228M Disease HEM4_HUMAN V82F Disease HEM4_HUMAN G188R Disease HEM4_HUMAN P53L Disease HEM4_HUMAN V99A Disease HEM4_HUMAN G188W Disease OPRD_HUMAN F27C Polymorphism MCHR1_HUMAN N32D Polymorphism PADI4_HUMAN S55G Polymorphism PADI4_HUMAN A82V Polymorphism PADI4_HUMAN S275F Polymorphism PADI4_HUMAN A112G Polymorphism PCDB4_HUMAN A421T Polymorphism GNMT_HUMAN N140S Disease GNMT_HUMAN H176N Disease GNMT_HUMAN L49P Disease LOX15_HUMAN D89H Polymorphism LOX15_HUMAN R204Q Polymorphism LOX15_HUMAN N102K Polymorphism TACC2_HUMAN V796I Polymorphism TACC2_HUMAN A810T Polymorphism TACC2_HUMAN V275A Polymorphism TACC2_HUMAN L339H Polymorphism TACC2_HUMAN N180S Polymorphism HM13_HUMAN A259P Polymorphism PTPRJ_HUMAN Q276P Disease PTPRJ_HUMAN R214C Disease OCTN2_HUMAN M179L Disease OCTN2_HUMAN Y211C Disease OCTN2_HUMAN R169Q Disease OCTN2_HUMAN S467C Disease OCTN2_HUMAN F17L Polymorphism OCTN2_HUMAN P549S Polymorphism OCTN2_HUMAN P478L Disease OCTN2_HUMAN E452K Disease OCTN2_HUMAN W283R Disease OCTN2_HUMAN L144F Polymorphism OCTN2_HUMAN W283C Disease OCTN2_HUMAN V481F Polymorphism OCTN2_HUMAN V446F Disease RP21_HUMAN Q77H Polymorphism TGIF_HUMAN P192R Disease TGIF_HUMAN P292L Polymorphism TGIF_HUMAN S157C Disease TGIF_HUMAN S291F Disease TGIF_HUMAN T280A Disease TGIF_HUMAN Q236L Disease TRIM7_HUMAN Q95E Polymorphism TRIM7_HUMAN A18S Polymorphism TRIM7_HUMAN P73S Polymorphism POLS_HUMAN N326S Polymorphism POLS_HUMAN G396S Polymorphism HSPB9_HUMAN Q2P Polymorphism MD1L1_HUMAN R556C Disease MD1L1_HUMAN S29L Disease MD1L1_HUMAN T299A Disease MD1L1_HUMAN R360Q Disease MD1L1_HUMAN R558H Disease MD1L1_HUMAN E511K Polymorphism MD1L1_HUMAN R556H Disease MD1L1_HUMAN E516K Disease MD1L1_HUMAN R572H Disease MD1L1_HUMAN R59C Disease MD1L1_HUMAN N160S Polymorphism MD1L1_HUMAN T500M Polymorphism MD1L1_HUMAN E569K Disease OST1_HUMAN P22T Polymorphism SC6A7_HUMAN L345V Polymorphism PARP1_HUMAN V761A Polymorphism PARP1_HUMAN S382Y Polymorphism PARP1_HUMAN V333I Polymorphism PARP1_HUMAN A187T Polymorphism PARP1_HUMAN K939R Polymorphism ZDH13_HUMAN R99K Polymorphism IRAK4_HUMAN A428T Polymorphism IRAK4_HUMAN S98R Polymorphism IRAK4_HUMAN H390R Polymorphism ELL3_HUMAN Q11E Polymorphism FUT2_HUMAN I25V Polymorphism FUT2_HUMAN I140F Polymorphism FUT2_HUMAN G258S Polymorphism FUT2_HUMAN D172N Polymorphism FUT2_HUMAN R138C Polymorphism SC6A6_HUMAN I17M Polymorphism SC6A6_HUMAN W236C Polymorphism SC6A6_HUMAN L18V Polymorphism ITIH1_HUMAN G695C Polymorphism ITIH1_HUMAN Q595R Polymorphism ITIH1_HUMAN D844E Polymorphism ITIH1_HUMAN S263T Polymorphism ITIH1_HUMAN E585V Polymorphism CALCR_HUMAN P463L Polymorphism PUR9_HUMAN T116S Polymorphism PUR9_HUMAN K426R Disease CI045_HUMAN R121C Polymorphism ZN207_HUMAN A224S Polymorphism XRCC2_HUMAN R188H Polymorphism XRCC2_HUMAN A16S Polymorphism RAB34_HUMAN V197L Polymorphism TLR5_HUMAN F616L Polymorphism TLR5_HUMAN N592S Polymorphism NU4M_HUMAN T109P Polymorphism NU4M_HUMAN M294T Polymorphism NU4M_HUMAN R340H Disease NU4M_HUMAN T109A Disease NU4M_HUMAN V313I Disease NU4M_HUMAN I132T Polymorphism NU4M_HUMAN A79P Polymorphism COQ3_HUMAN G272S Polymorphism COQ3_HUMAN H329Y Polymorphism DSG1_HUMAN Y841F Polymorphism DNC_HUMAN G177A Disease HDA10_HUMAN G584C Polymorphism PLOD2_HUMAN T608I Disease PLOD2_HUMAN G601V Disease PLOD2_HUMAN R598H Disease IBP7_HUMAN L11F Polymorphism CT086_HUMAN R287C Polymorphism SOX10_HUMAN S135T Disease PCDBB_HUMAN Q4R Polymorphism GSTO1_HUMAN A140D Polymorphism CC45L_HUMAN V81I Polymorphism CC45L_HUMAN V376M Polymorphism SIGL5_HUMAN V72A Polymorphism SIGL5_HUMAN F322S Polymorphism SIGL5_HUMAN P499A Polymorphism SIGL5_HUMAN M215V Polymorphism CPT1A_HUMAN E360G Disease CPT1A_HUMAN A414V Disease CPT1A_HUMAN G709E Disease CPT1A_HUMAN D454G Disease CPT1A_HUMAN T314I Disease CPT1A_HUMAN L484P Disease CPT1A_HUMAN R123C Disease CPT1A_HUMAN C304W Disease CPT1A_HUMAN R357W Disease CPT1A_HUMAN Y498C Disease CPT1A_HUMAN A275T Polymorphism CPT1A_HUMAN P479L Disease CPT1A_HUMAN G710E Disease GTR2_HUMAN P417L Disease GTR2_HUMAN V101I Polymorphism GTR2_HUMAN L478V Polymorphism GTR2_HUMAN P68L Polymorphism GTR2_HUMAN V423E Disease GTR2_HUMAN T110I Polymorphism GTR2_HUMAN L389P Disease ANXA9_HUMAN G166D Polymorphism SC10A_HUMAN A1073V Polymorphism SC10A_HUMAN S509P Polymorphism SC10A_HUMAN L1092P Polymorphism SC10A_HUMAN V1713M Polymorphism CAN2_HUMAN S67G Polymorphism CAN2_HUMAN K567Q Polymorphism CAN2_HUMAN K475R Polymorphism CAN2_HUMAN E21D Polymorphism CAN2_HUMAN K676Q Polymorphism CAN2_HUMAN E520Q Polymorphism CJ027_HUMAN Q237R Polymorphism CEP63_HUMAN S651L Polymorphism EGR2_HUMAN R381H Disease EGR2_HUMAN R409W Disease EGR2_HUMAN D355V Disease EGR2_HUMAN I268N Disease EGR2_HUMAN R359W Disease METL_HUMAN P357L Disease METL_HUMAN R264H Disease METL_HUMAN A55D Disease METL_HUMAN L305P Disease METL_HUMAN I322M Disease METL_HUMAN R199C Disease METL_HUMAN G378S Disease METL_HUMAN R356Q Disease KIF4A_HUMAN L422W Polymorphism IRAK3_HUMAN V147I Polymorphism SARDH_HUMAN R614H Polymorphism SARDH_HUMAN M648V Polymorphism IRK9_HUMAN V366A Polymorphism MYH4_HUMAN T883M Polymorphism MYH8_HUMAN R674Q Disease GDF3_HUMAN V328L Polymorphism KI3L2_HUMAN A228P Polymorphism KI3L2_HUMAN R166H Polymorphism KI3L2_HUMAN P40A Polymorphism KI3L2_HUMAN L113V Polymorphism KI3L2_HUMAN I252T Polymorphism KI3L2_HUMAN E158D Polymorphism KI3L1_HUMAN L13F Polymorphism KI3L1_HUMAN S2L Polymorphism KI3L1_HUMAN I68V Polymorphism KI3L1_HUMAN M23V Polymorphism KI3L1_HUMAN S333C Polymorphism KI3L1_HUMAN I75L Polymorphism KI3L1_HUMAN G259R Polymorphism ODPB_HUMAN Y132C Disease ODPB_HUMAN V31L Polymorphism ODPB_HUMAN P344S Disease VN1R2_HUMAN R38C Polymorphism PODXL_HUMAN L196S Polymorphism PODXL_HUMAN T62R Polymorphism SALL1_HUMAN G1265E Polymorphism SALL1_HUMAN S159G Polymorphism PCDB6_HUMAN V231I Polymorphism ZBP1_HUMAN E88K Polymorphism ENTK_HUMAN K77R Polymorphism ENTK_HUMAN E641K Polymorphism SNAI_HUMAN V118A Polymorphism PPB1_HUMAN P25L Polymorphism NTCP2_HUMAN A171S Polymorphism NTCP2_HUMAN P290S Disease NTCP2_HUMAN T262M Disease NTCP2_HUMAN L243P Disease MGR8_HUMAN F21C Polymorphism MGR8_HUMAN V548G Polymorphism MGR8_HUMAN R392Q Polymorphism MGR8_HUMAN S10C Polymorphism PECR_HUMAN F297L Polymorphism PECR_HUMAN E149K Polymorphism BRAF1_HUMAN G596R Disease BRAF1_HUMAN G464E Disease BRAF1_HUMAN D594G Disease BRAF1_HUMAN G469R Disease BRAF1_HUMAN G466V Disease BRAF1_HUMAN K601E Disease BRAF1_HUMAN L597R Disease BRAF1_HUMAN G469E Disease BRAF1_HUMAN I463S Disease BRAF1_HUMAN L597V Disease BRAF1_HUMAN G464V Disease BRAF1_HUMAN E586K Disease BRAF1_HUMAN G469A Disease BRAF1_HUMAN R462I Disease BRAF1_HUMAN F595L Disease BRAF1_HUMAN G466E Disease BRAF1_HUMAN V600E Disease BRAF1_HUMAN V600D Disease BRAF1_HUMAN G466A Disease KPB2_HUMAN P1205L Disease KPB2_HUMAN H132Y Disease KPB2_HUMAN K189E Disease KPB2_HUMAN T1114I Disease KPB2_HUMAN E1125K Disease KPB2_HUMAN G1207W Disease KPB2_HUMAN H132P Disease KPB2_HUMAN P399S Disease KPB2_HUMAN D299G Disease KPB2_HUMAN R295H Disease KPB2_HUMAN R186C Disease KPB2_HUMAN G193V Disease KPB2_HUMAN R186H Disease LRSM1_HUMAN N318D Polymorphism GSTM3_HUMAN V223I Polymorphism CTCF_HUMAN H345R Disease CTCF_HUMAN K344E Disease CTCF_HUMAN R339W Disease CTCF_HUMAN R448Q Disease EFNB1_HUMAN P119H Disease EFNB1_HUMAN S182R Disease EFNB1_HUMAN P119S Disease EFNB1_HUMAN M158V Disease EFNB1_HUMAN P27R Disease EFNB1_HUMAN S138F Disease EFNB1_HUMAN T155P Disease EFNB1_HUMAN V189A Polymorphism EFNB1_HUMAN Q115P Disease EFNB1_HUMAN I62T Disease EFNB1_HUMAN C153Y Disease EFNB1_HUMAN R154H Polymorphism EFNB1_HUMAN L98S Disease EFNB1_HUMAN T111I Disease EFNB1_HUMAN G151S Disease EFNB1_HUMAN P54L Disease EFNB1_HUMAN C153S Disease EFNB1_HUMAN M158I Disease EFNB1_HUMAN P119T Disease EFNB1_HUMAN G151V Disease EFNB1_HUMAN T137A Disease PCDA1_HUMAN Y732C Polymorphism PCDA1_HUMAN N449H Polymorphism EDAR_HUMAN R420Q Disease EDAR_HUMAN V370A Polymorphism EDAR_HUMAN C87R Disease EDAR_HUMAN R89H Disease KIP1_HUMAN T43S Polymorphism POT15_HUMAN M535K Polymorphism POT15_HUMAN K511E Polymorphism POT15_HUMAN C64W Polymorphism POT15_HUMAN N88D Polymorphism POT15_HUMAN M43V Polymorphism POT15_HUMAN T77K Polymorphism POT15_HUMAN H30D Polymorphism POT15_HUMAN Q286E Polymorphism POT15_HUMAN C68R Polymorphism POT15_HUMAN A568V Polymorphism ANR21_HUMAN S113G Polymorphism ANR21_HUMAN V135I Polymorphism LEG8_HUMAN Y18F Polymorphism LEG8_HUMAN V55M Polymorphism LEG8_HUMAN C35R Polymorphism CASP8_HUMAN R248W Disease CASP8_HUMAN D285H Polymorphism MEP1A_HUMAN V469L Polymorphism MEP1A_HUMAN M634V Polymorphism WIT1_HUMAN A13T Polymorphism SCRB1_HUMAN G167S Polymorphism SCRB1_HUMAN S229G Polymorphism SCRB1_HUMAN C511R Polymorphism SCRB1_HUMAN V135I Polymorphism SCRB1_HUMAN G2S Polymorphism GBP1_HUMAN S349T Polymorphism RS19_HUMAN R61W Disease RS19_HUMAN R55Q Disease RS19_HUMAN T54M Disease RS19_HUMAN R61Q Disease RS19_HUMAN P46L Disease RS19_HUMAN L130P Disease RS19_HUMAN L17P Disease RS19_HUMAN R100H Disease RS19_HUMAN W51R Disease RS19_HUMAN A60E Disease RS19_HUMAN G119R Disease RS19_HUMAN V14F Disease LAMB1_HUMAN R1022Q Polymorphism LAMB1_HUMAN V670A Polymorphism TXNL2_HUMAN Q21H Polymorphism TXNL2_HUMAN P123S Polymorphism FOXL2_HUMAN I84S Disease FOXL2_HUMAN N109K Disease FOXL2_HUMAN G187D Polymorphism FOXL2_HUMAN H104R Disease FOXL2_HUMAN A66V Disease FOXL2_HUMAN A179G Polymorphism FOXL2_HUMAN Y258N Disease FOXL2_HUMAN K193R Disease FOXL2_HUMAN L106F Disease FOXL2_HUMAN N105S Disease FOXL2_HUMAN S217F Disease FOXL2_HUMAN Y215C Disease FOXL2_HUMAN E69K Disease FOXL2_HUMAN P285S Polymorphism FOXL2_HUMAN S58L Disease THIC_HUMAN K211R Polymorphism I17RB_HUMAN N458S Polymorphism I17RB_HUMAN I451T Polymorphism I17RB_HUMAN C499R Polymorphism I17RB_HUMAN F278L Polymorphism S4A11_HUMAN Q408H Polymorphism S4A11_HUMAN M483T Polymorphism S4A11_HUMAN T708A Polymorphism S4A11_HUMAN K409N Polymorphism MILK1_HUMAN P583L Polymorphism MILK1_HUMAN A519S Polymorphism S12A1_HUMAN D648N Disease S12A1_HUMAN V272F Disease PMS2_HUMAN R20Q Polymorphism PMS2_HUMAN T597S Polymorphism PMS2_HUMAN N775S Polymorphism PMS2_HUMAN T277K Polymorphism PMS2_HUMAN T485K Polymorphism PMS2_HUMAN H479Q Polymorphism PMS2_HUMAN P470S Polymorphism PMS2_HUMAN T511A Polymorphism PMS2_HUMAN E705K Disease PMS2_HUMAN M622I Polymorphism RHG07_HUMAN S772C Polymorphism RHG07_HUMAN E762V Polymorphism RHG07_HUMAN N275S Polymorphism RHG07_HUMAN H561Q Polymorphism RHG07_HUMAN V588A Polymorphism RHG07_HUMAN M354V Polymorphism RHG07_HUMAN T522A Polymorphism TYOBP_HUMAN Y111H Polymorphism CT038_HUMAN P149A Polymorphism ABI3_HUMAN R44Q Polymorphism MYO5A_HUMAN R1246C Polymorphism TDIF1_HUMAN A183T Polymorphism HESX1_HUMAN N125S Polymorphism HESX1_HUMAN R160C Disease CBP_HUMAN R1378P Disease MEN1_HUMAN A169D Disease MEN1_HUMAN A546T Polymorphism MEN1_HUMAN E45G Disease MEN1_HUMAN A247V Disease MEN1_HUMAN E260K Disease MEN1_HUMAN P12L Disease MEN1_HUMAN R319P Disease MEN1_HUMAN S560N Disease MEN1_HUMAN H139D Disease MEN1_HUMAN F452S Disease MEN1_HUMAN A181P Disease MEN1_HUMAN L39W Disease MEN1_HUMAN A342D Disease MEN1_HUMAN L228P Disease MEN1_HUMAN D423N Disease MEN1_HUMAN G42D Disease MEN1_HUMAN K135I Disease MEN1_HUMAN D177Y Disease MEN1_HUMAN F144V Disease MEN1_HUMAN G161D Disease MEN1_HUMAN H139Y Disease MEN1_HUMAN T349R Disease MEN1_HUMAN L22R Disease MEN1_HUMAN W346R Disease MEN1_HUMAN V189E Disease MEN1_HUMAN A314P Disease MEN1_HUMAN L272P Disease MEN1_HUMAN A373D Disease MEN1_HUMAN E184D Disease MEN1_HUMAN E364K Disease MEN1_HUMAN R176Q Polymorphism MEN1_HUMAN W441R Disease MEN1_HUMAN A289E Disease MEN1_HUMAN C246R Disease MEN1_HUMAN A165P Disease MEN1_HUMAN L269P Disease MEN1_HUMAN W188S Disease MEN1_HUMAN L291P Disease RGDSR_HUMAN V378A Polymorphism RGDSR_HUMAN H241Y Polymorphism RGDSR_HUMAN Q24R Polymorphism RGDSR_HUMAN M342R Polymorphism IL4_HUMAN C27R Polymorphism GP154_HUMAN N107I Polymorphism GP154_HUMAN S241R Polymorphism GP154_HUMAN Q344R Polymorphism GRK4_HUMAN V247I Polymorphism MSH6_HUMAN G39E Polymorphism MSH6_HUMAN I886V Polymorphism MSH6_HUMAN D1213V Polymorphism MSH6_HUMAN Q698E Polymorphism MSH6_HUMAN V1260I Polymorphism MSH6_HUMAN L396V Polymorphism MSH6_HUMAN V800L Polymorphism MSH6_HUMAN E220D Polymorphism MSH6_HUMAN V878A Polymorphism MPP10_HUMAN L425M Polymorphism MPP10_HUMAN E634K Polymorphism ACHA_HUMAN G198S Disease ACHA_HUMAN F278V Disease ACHA_HUMAN S314I Disease ACHA_HUMAN T299I Disease ACHA_HUMAN V294F Disease ACHA_HUMAN F301L Disease ACHA_HUMAN N262K Disease ACHA_HUMAN V201M Disease ACHA_HUMAN V330I Disease CPVL_HUMAN A435V Polymorphism TBA2_HUMAN V440M Polymorphism ZN192_HUMAN P163L Polymorphism CLD14_HUMAN V85D Disease CLD14_HUMAN T4M Polymorphism PA21B_HUMAN N89K Polymorphism PA21B_HUMAN N89T Polymorphism PA21B_HUMAN D16A Polymorphism HEM0_HUMAN D159Y Disease HEM0_HUMAN I476N Disease HEM0_HUMAN R452C Disease HEM0_HUMAN R560H Disease HEM0_HUMAN T388S Disease HEM0_HUMAN R204Q Disease HEM0_HUMAN Y199H Disease HEM0_HUMAN R411C Disease HEM0_HUMAN R448Q Disease CFAH_HUMAN C959Y Disease CFAH_HUMAN E936D Polymorphism CFAH_HUMAN S1191L Disease CFAH_HUMAN I63V Polymorphism CFAH_HUMAN H402Y Polymorphism CFAH_HUMAN L1189R Disease CFAH_HUMAN C536R Disease TFAM_HUMAN S12T Polymorphism P85A_HUMAN M326I Polymorphism P85A_HUMAN R409Q Disease CCNI_HUMAN V207I Polymorphism GCDH_HUMAN R257Q Disease GCDH_HUMAN Y295H Disease GCDH_HUMAN R257W Disease GCDH_HUMAN R313W Disease GCDH_HUMAN P278S Disease GCDH_HUMAN A421T Disease GCDH_HUMAN A382T Disease GCDH_HUMAN E414K Disease GCDH_HUMAN A433E Disease GCDH_HUMAN M266V Disease GCDH_HUMAN N406K Disease GCDH_HUMAN E365K Disease GCDH_HUMAN H403R Disease GCDH_HUMAN R161Q Disease GCDH_HUMAN T429M Disease GCDH_HUMAN L309W Disease GCDH_HUMAN S139L Disease GCDH_HUMAN R402W Disease GCDH_HUMAN G390R Disease GCDH_HUMAN R128G Disease GCDH_HUMAN R88C Disease GCDH_HUMAN R138G Disease GCDH_HUMAN G178R Disease GCDH_HUMAN V148I Disease GCDH_HUMAN R94L Disease GCDH_HUMAN N392D Disease GCDH_HUMAN S305L Disease GCDH_HUMAN A293T Disease GCDH_HUMAN G390A Disease GCDH_HUMAN A195T Disease GCDH_HUMAN A298V Polymorphism GCDH_HUMAN L283P Disease GCDH_HUMAN A298T Polymorphism GCDH_HUMAN R383C Disease GCDH_HUMAN A122V Disease GCDH_HUMAN G354R Disease GCDH_HUMAN R383H Disease GCDH_HUMAN M191T Disease GCDH_HUMAN R355C Disease GCDH_HUMAN R402Q Disease GCDH_HUMAN V400M Disease GCDH_HUMAN A421V Disease GCDH_HUMAN R355H Disease GCDH_HUMAN F236L Disease GCDH_HUMAN C375R Disease GCDH_HUMAN C115Y Disease GCDH_HUMAN T416I Disease GCDH_HUMAN R386Q Disease GCDH_HUMAN A349T Disease GCDH_HUMAN L407P Disease GCDH_HUMAN R227P Disease GCDH_HUMAN R294W Disease GCDH_HUMAN L179R Disease GCDH_HUMAN G354S Disease GCDH_HUMAN G101R Disease GCDH_HUMAN C308S Disease GCDH_HUMAN Q333E Disease FA7_HUMAN E445K Polymorphism FA7_HUMAN V295D Polymorphism FA7_HUMAN T367S Polymorphism FA7_HUMAN A352T Polymorphism FA7_HUMAN R413Q Polymorphism CLD7_HUMAN A197V Polymorphism TIM_HUMAN P1018L Polymorphism TIM_HUMAN Q831R Polymorphism TIM_HUMAN L455I Polymorphism CATB_HUMAN S235N Polymorphism CATB_HUMAN L26V Polymorphism GATM_HUMAN Q110H Polymorphism PKD1_HUMAN T2649I Disease PKD1_HUMAN G4032D Disease PKD1_HUMAN I2826T Disease PKD1_HUMAN L2763V Disease PKD1_HUMAN R2392P Disease PKD1_HUMAN P3193L Polymorphism PKD1_HUMAN Y2336D Disease PKD1_HUMAN D2604N Polymorphism PKD1_HUMAN H3311R Polymorphism PKD1_HUMAN L2816P Disease PKD1_HUMAN W139C Disease PKD1_HUMAN W967R Disease PKD1_HUMAN H2921P Disease PKD1_HUMAN F3066L Polymorphism PKD1_HUMAN T2582M Polymorphism PKD1_HUMAN R4136G Disease PKD1_HUMAN M3678T Disease PKD1_HUMAN E2966D Polymorphism PKD1_HUMAN L3511V Disease PKD1_HUMAN L13Q Disease PKD1_HUMAN M2764T Disease PKD1_HUMAN A2752D Disease PKD1_HUMAN Q3016R Disease PKD1_HUMAN R2329W Disease PKD1_HUMAN P2734T Polymorphism PKD1_HUMAN E2548Q Polymorphism PKD1_HUMAN R1995H Polymorphism PKD1_HUMAN V2905I Polymorphism PKD1_HUMAN R4276W Disease PKD1_HUMAN Q4225P Disease PKD1_HUMAN Y2379C Polymorphism PKD1_HUMAN L2993P Disease PKD1_HUMAN L2696R Disease PKD1_HUMAN G3560R Disease PKD1_HUMAN P2471L Disease PKD1_HUMAN Q2519L Disease PKD1_HUMAN G2858S Disease PKD1_HUMAN R324L Disease PKD1_HUMAN R2985G Disease PKD1_HUMAN S4190F Polymorphism PKD1_HUMAN P1786L Polymorphism PKD1_HUMAN E3632D Polymorphism PKD1_HUMAN R3247H Disease PKD1_HUMAN A88V Polymorphism PKD1_HUMAN L3852P Disease PKD1_HUMAN T3382M Disease PKD1_HUMAN S3562N Polymorphism PKD1_HUMAN D2972N Polymorphism PKD1_HUMAN D3815N Disease PKD1_HUMAN V3008L Disease PKD1_HUMAN V4058A Polymorphism PKD1_HUMAN R2408C Disease PKD1_HUMAN P2674S Polymorphism PKD1_HUMAN A4059V Polymorphism PKD1_HUMAN V2768M Disease PKD1_HUMAN I4045V Polymorphism PKD1_HUMAN T3510M Polymorphism PKD1_HUMAN V3375M Disease PKD1_HUMAN T2250M Disease PKD1_HUMAN S75F Disease PKD1_HUMAN R2746P Polymorphism PKD1_HUMAN Q2735L Polymorphism PKD1_HUMAN V3285I Disease PKD1_HUMAN V1956E Disease PKD1_HUMAN R2765C Polymorphism PKD1_HUMAN S2423F Disease PKD1_HUMAN A3512V Polymorphism PKD1_HUMAN M2760T Disease PKD1_HUMAN G1166S Disease PKD1_HUMAN R2791Q Disease PKD1_HUMAN R4154C Disease PKD1_HUMAN R3753W Disease PKD1_HUMAN E2771K Disease PKD1_HUMAN G3139V Polymorphism PKD1_HUMAN V2782M Polymorphism PKD1_HUMAN G2814R Polymorphism PKD1_HUMAN L845S Disease PKD1_HUMAN T2708M Polymorphism PKD1_HUMAN R2761P Disease PKD1_HUMAN W1399R Polymorphism PKD1_HUMAN R3039C Disease PKD1_HUMAN R2888G Polymorphism PKD1_HUMAN R3719Q Disease PKD1_HUMAN H2638R Polymorphism SAC3_HUMAN V654A Polymorphism SAC3_HUMAN M364L Polymorphism RL14_HUMAN A137S Polymorphism PHF3_HUMAN H1834Y Polymorphism ASAH1_HUMAN T222K Disease ASAH1_HUMAN G235R Disease ASAH1_HUMAN V93I Polymorphism ASAH1_HUMAN V369I Polymorphism ASAH1_HUMAN N320D Disease ASAH1_HUMAN V97E Disease ASAH1_HUMAN M72V Polymorphism ASAH1_HUMAN P362R Disease ASAH1_HUMAN Y36C Disease ASAH1_HUMAN E138V Disease ASAH1_HUMAN R254G Disease DAMS_HUMAN K85N Polymorphism CD166_HUMAN N258S Polymorphism CD166_HUMAN M301T Polymorphism TAU_HUMAN G588V Disease TAU_HUMAN N595K Disease TAU_HUMAN R4L Disease TAU_HUMAN L582V Disease TAU_HUMAN P617S Disease TAU_HUMAN R4H Disease TAU_HUMAN S621N Disease TAU_HUMAN V653M Disease TAU_HUMAN P617L Disease TAU_HUMAN E658V Disease TAU_HUMAN S446P Polymorphism TAU_HUMAN N612H Disease TAU_HUMAN H440Y Polymorphism TF2LX_HUMAN V197I Polymorphism COMD5_HUMAN A6T Polymorphism OR2W1_HUMAN D296N Polymorphism OR2W1_HUMAN M81V Polymorphism 209L1_HUMAN D291N Polymorphism SKP2_HUMAN L87I Polymorphism SKP2_HUMAN P85L Polymorphism UPA5_HUMAN G9Y Polymorphism MYLIP_HUMAN S342N Polymorphism TGFR2_HUMAN L308P Disease TGFR2_HUMAN L452M Disease TGFR2_HUMAN S449F Disease TGFR2_HUMAN V387M Disease TGFR2_HUMAN T315M Disease TGFR2_HUMAN M36V Polymorphism TGFR2_HUMAN R537C Disease TGFR2_HUMAN A355P Disease TGFR2_HUMAN E526Q Disease TGFR2_HUMAN G357W Disease TGFR2_HUMAN R528H Disease TGFR2_HUMAN V447A Disease TGFR2_HUMAN N435S Disease TGFR2_HUMAN R528C Disease TGFR2_HUMAN Y336N Disease TGFR2_HUMAN V191I Polymorphism AQP8_HUMAN A260P Polymorphism PITX3_HUMAN S13N Disease YLA1_HUMAN G338D Disease YLA1_HUMAN S386R Disease YLA1_HUMAN L334R Disease YLA1_HUMAN G54V Disease CO2A1_HUMAN R920C Disease CO2A1_HUMAN G1104R Disease CO2A1_HUMAN G306R Disease CO2A1_HUMAN G726R Disease CO2A1_HUMAN V1262I Polymorphism CO2A1_HUMAN G711R Disease CO2A1_HUMAN G378S Disease CO2A1_HUMAN G384V Disease CO2A1_HUMAN G1128S Disease CO2A1_HUMAN G423V Disease CO2A1_HUMAN G198D Disease CO2A1_HUMAN G1101S Disease CO2A1_HUMAN G435S Disease CO2A1_HUMAN G648S Disease CO2A1_HUMAN G1107S Disease CO2A1_HUMAN G705S Disease CO2A1_HUMAN R496C Disease CO2A1_HUMAN G948V Disease CO2A1_HUMAN G1050R Disease CO2A1_HUMAN L598F Disease CO2A1_HUMAN G234D Disease CO2A1_HUMAN G1119R Disease CO2A1_HUMAN G249R Disease CO2A1_HUMAN G879D Disease CO2A1_HUMAN R835C Disease CO2A1_HUMAN G825E Disease CO2A1_HUMAN G1074S Disease CO2A1_HUMAN R650C Disease CO2A1_HUMAN R923G Disease CO2A1_HUMAN G996V Disease CO2A1_HUMAN G702D Disease CO2A1_HUMAN G900S Disease CO2A1_HUMAN S9T Polymorphism CO2A1_HUMAN G441D Disease CO2A1_HUMAN G822R Disease CO2A1_HUMAN G828V Disease CO2A1_HUMAN G912S Disease CO2A1_HUMAN G786S Disease CO2A1_HUMAN L89P Polymorphism CO2A1_HUMAN G1041C Disease CO2A1_HUMAN T1370M Disease CO2A1_HUMAN G840C Disease CO2A1_HUMAN G384D Disease RFIP1_HUMAN M1185T Polymorphism WASIP_HUMAN A495G Polymorphism CLCR_HUMAN R80W Polymorphism VATB1_HUMAN R465H Disease VATB1_HUMAN R157C Disease VATB1_HUMAN R124W Disease VATB1_HUMAN G123V Disease VATB1_HUMAN E161K Polymorphism VATB1_HUMAN T275P Disease VATB1_HUMAN P346R Disease VATB1_HUMAN M174R Disease VATB1_HUMAN T30I Polymorphism VATB1_HUMAN L81P Disease VATB1_HUMAN G316E Disease VATB1_HUMAN G364S Disease CHST3_HUMAN R304Q Disease CHST3_HUMAN I348M Polymorphism CHST3_HUMAN R357Q Polymorphism CHST6_HUMAN R127C Disease CHST6_HUMAN S210F Disease CHST6_HUMAN R202S Disease CHST6_HUMAN S131P Disease CHST6_HUMAN V198E Disease CHST6_HUMAN R50C Disease CHST6_HUMAN Y268C Disease CHST6_HUMAN A206T Disease CHST6_HUMAN A206V Disease CHST6_HUMAN N61T Disease CHST6_HUMAN E274K Disease CHST6_HUMAN R93H Disease CHST6_HUMAN R97P Disease CHST6_HUMAN Y68H Disease CHST6_HUMAN A217T Disease CHST6_HUMAN L200R Disease CHST6_HUMAN D221Y Disease CHST6_HUMAN C102G Disease CHST6_HUMAN C102Y Disease CHST6_HUMAN L276P Disease CHST6_HUMAN A128V Disease CHST6_HUMAN L22R Disease CHST6_HUMAN V76M Disease CHST6_HUMAN K174R Disease CHST6_HUMAN G52D Disease CHST6_HUMAN S51L Disease CHST6_HUMAN D221E Disease CHST6_HUMAN M70L Disease CHST6_HUMAN L59P Disease CHST6_HUMAN H42Y Disease CHST6_HUMAN R211W Disease CHST6_HUMAN Y110C Disease CHST6_HUMAN V66L Disease CHST6_HUMAN R211Q Disease CHST6_HUMAN D203E Disease CHST6_HUMAN R166P Disease CHST6_HUMAN R205L Disease CHST6_HUMAN Y358D Disease CHST6_HUMAN F107S Disease CHST6_HUMAN S53L Disease CHST6_HUMAN L152P Disease CHST6_HUMAN R162G Disease CHST6_HUMAN L15P Disease CHST6_HUMAN P204Q Disease CHST6_HUMAN R205Q Disease CHST6_HUMAN Q122P Disease CHST6_HUMAN H249P Disease CHST6_HUMAN P72S Disease CHST6_HUMAN F121L Disease CHST6_HUMAN M104V Disease CHST6_HUMAN S98W Disease CHST6_HUMAN R177H Disease CHST6_HUMAN P31S Disease LAMP2_HUMAN P256H Polymorphism BIRC4_HUMAN D242E Polymorphism BIRC4_HUMAN N107S Polymorphism BIRC4_HUMAN S133F Polymorphism BIRC4_HUMAN Q423P Polymorphism SENP8_HUMAN T207A Polymorphism SUCB1_HUMAN T199S Polymorphism NUYM_HUMAN T174P Polymorphism CAN1_HUMAN R433P Polymorphism CAN1_HUMAN G492R Polymorphism CAN1_HUMAN T103A Polymorphism CAN1_HUMAN V676I Polymorphism SUFU_HUMAN A340S Polymorphism SUFU_HUMAN P15L Polymorphism K0141_HUMAN F128L Polymorphism K0141_HUMAN A247T Polymorphism SPAT7_HUMAN V74M Polymorphism PRND_HUMAN T26P Polymorphism PRND_HUMAN P56L Polymorphism PRND_HUMAN T174M Polymorphism PRND_HUMAN H31R Polymorphism PRND_HUMAN S6I Polymorphism PRND_HUMAN S22P Polymorphism PRND_HUMAN F70L Polymorphism PRND_HUMAN L149S Polymorphism KRIT1_HUMAN F97S Disease KRIT1_HUMAN K569E Disease TM6S1_HUMAN I17T Polymorphism PON2_HUMAN A148G Polymorphism PON2_HUMAN V172L Polymorphism PON2_HUMAN C311S Polymorphism KPCG_HUMAN R659S Polymorphism KPCG_HUMAN G128D Disease KPCG_HUMAN A523D Polymorphism KPCG_HUMAN H415Q Polymorphism KPCG_HUMAN H101Y Disease KPCG_HUMAN R141C Polymorphism KPCG_HUMAN S119P Disease MADCA_HUMAN P324H Polymorphism ADA22_HUMAN P81R Polymorphism HNF3G_HUMAN G91R Polymorphism TIE2_HUMAN Y897S Disease TIE2_HUMAN R849W Disease CDD_HUMAN K27Q Polymorphism EAA1_HUMAN E219D Polymorphism GPR39_HUMAN A50V Polymorphism KI21A_HUMAN M947R Disease KI21A_HUMAN R954Q Disease KI21A_HUMAN M947V Disease KI21A_HUMAN R954W Disease KI21A_HUMAN I1010T Disease KI21A_HUMAN M356T Disease CU013_HUMAN G17S Polymorphism VPP3_HUMAN A141P Disease VPP3_HUMAN D517N Disease VPP3_HUMAN G405R Disease VPP3_HUMAN P775R Disease VPP3_HUMAN R444L Disease PHKG2_HUMAN E157K Disease PHKG2_HUMAN G189E Disease PHKG2_HUMAN D215N Disease PHKG2_HUMAN V106E Disease MAP2_HUMAN A82G Polymorphism MAP2_HUMAN R423K Polymorphism NIPA1_HUMAN G106R Disease NIPA1_HUMAN T45R Disease PTC2_HUMAN E493K Polymorphism PTC2_HUMAN H622Y Polymorphism PTC2_HUMAN E346Q Polymorphism PTC2_HUMAN I1121M Polymorphism PTC2_HUMAN V1019M Polymorphism PTC2_HUMAN T988M Polymorphism PAX6_HUMAN R44Q Disease PAX6_HUMAN I87R Disease PAX6_HUMAN Q422R Disease PAX6_HUMAN S353A Disease PAX6_HUMAN R128C Disease PAX6_HUMAN M381V Disease PAX6_HUMAN S43P Disease PAX6_HUMAN R26G Disease PAX6_HUMAN G18W Disease PAX6_HUMAN R208Q Disease PAX6_HUMAN R208W Disease PAX6_HUMAN P375Q Disease PAX6_HUMAN V53D Disease PAX6_HUMAN F258S Disease PAX6_HUMAN G64V Disease PAX6_HUMAN R125C Disease PAX6_HUMAN V53L Disease PAX6_HUMAN Q178H Disease PAX6_HUMAN S119R Disease PAX6_HUMAN T63P Disease PAX6_HUMAN I29V Disease PAX6_HUMAN V126D Disease PAX6_HUMAN S292I Disease PAX6_HUMAN N17S Disease PAX6_HUMAN I29S Disease PAX6_HUMAN I42S Disease PAX6_HUMAN A79E Disease PAX6_HUMAN S363P Disease PAX6_HUMAN A33P Disease IRK10_HUMAN R271H Polymorphism STAU2_HUMAN M198V Polymorphism ZDH12_HUMAN L172Q Polymorphism ZDH12_HUMAN P69S Polymorphism SLUG_HUMAN D119E Disease DDEF2_HUMAN E748D Polymorphism TMC6_HUMAN W125R Polymorphism TBCD8_HUMAN R836G Polymorphism TBCD8_HUMAN M865V Polymorphism SHBG_HUMAN D356N Polymorphism SHBG_HUMAN P185L Polymorphism SHBG_HUMAN R22H Polymorphism SHBG_HUMAN R25H Polymorphism FGD3_HUMAN V275I Polymorphism SACS_HUMAN V2619A Polymorphism DHB3_HUMAN M235V Disease DHB3_HUMAN S65L Disease DHB3_HUMAN E215D Disease DHB3_HUMAN C268Y Disease DHB3_HUMAN S232L Disease DHB3_HUMAN A56T Disease DHB3_HUMAN V31I Polymorphism DHB3_HUMAN G289S Polymorphism DHB3_HUMAN A203V Disease DHB3_HUMAN P282L Disease DHB3_HUMAN N130S Disease DHB3_HUMAN F208I Disease DHB3_HUMAN Q176P Disease DHB3_HUMAN R80Q Disease DHB3_HUMAN R80W Disease DHB3_HUMAN V205E Disease CT031_HUMAN A456T Polymorphism CM018_HUMAN G152R Polymorphism SYCP2_HUMAN P523L Polymorphism APEX2_HUMAN R141C Polymorphism CRIS3_HUMAN A134S Polymorphism CRIS3_HUMAN S106P Polymorphism M4A6E_HUMAN V47F Polymorphism 2B32_HUMAN H59Y Polymorphism 2B32_HUMAN D86S Polymorphism 2B32_HUMAN D86V Polymorphism 2B32_HUMAN H59S Polymorphism 2B32_HUMAN L96I Polymorphism 2B32_HUMAN Y66N Polymorphism 2B32_HUMAN G115V Polymorphism 2B32_HUMAN Y89S Polymorphism 2B32_HUMAN F193V Polymorphism 2B32_HUMAN R80T Polymorphism 2B11_HUMAN G74R Polymorphism 2B11_HUMAN V114A Polymorphism 2B11_HUMAN Q39E Polymorphism 2B11_HUMAN L96I Polymorphism 2B11_HUMAN T106N Polymorphism 2B11_HUMAN Q253E Polymorphism 2B11_HUMAN G115V Polymorphism 2B11_HUMAN R100A Polymorphism 2B11_HUMAN R100E Polymorphism 2B11_HUMAN Q99D Polymorphism 2B14_HUMAN A103E Polymorphism 2B14_HUMAN K100R Polymorphism 2B14_HUMAN D86S Polymorphism 2B14_HUMAN L96I Polymorphism 2B14_HUMAN K100E Polymorphism 2B14_HUMAN G115V Polymorphism 2B14_HUMAN Q99D Polymorphism 2B17_HUMAN V107Y Polymorphism 2B17_HUMAN T106N Polymorphism 2B17_HUMAN R58S Polymorphism 2B31_HUMAN R40C Polymorphism 2B18_HUMAN F96I Polymorphism 2B18_HUMAN G115V Polymorphism 2B18_HUMAN S86D Polymorphism 2B1B_HUMAN G115V Polymorphism 2B1B_HUMAN R100E Polymorphism CDX2_HUMAN S293P Polymorphism TIRAP_HUMAN D96N Polymorphism TIRAP_HUMAN A9P Polymorphism TIRAP_HUMAN R13W Polymorphism TIRAP_HUMAN S180L Polymorphism UB2R1_HUMAN D227H Polymorphism HYEP_HUMAN L452Q Polymorphism HYEP_HUMAN Y113H Polymorphism HYEP_HUMAN T408M Polymorphism HYEP_HUMAN V285L Polymorphism HYEP_HUMAN R43T Polymorphism HYEP_HUMAN L260P Polymorphism HYEP_HUMAN T396I Polymorphism HYEP_HUMAN R454Q Polymorphism HYEP_HUMAN H139R Polymorphism HYEP_HUMAN E44Q Polymorphism HYEP_HUMAN R49C Polymorphism APC_HUMAN I1304V Polymorphism APC_HUMAN D1422H Disease APC_HUMAN A1508V Disease APC_HUMAN A1296V Disease APC_HUMAN E1317Q Polymorphism APC_HUMAN V890I Disease APC_HUMAN E911G Disease APC_HUMAN R1348W Disease APC_HUMAN G1120E Disease APC_HUMAN G1312E Disease APC_HUMAN I2738T Disease APC_HUMAN V1472I Disease APC_HUMAN S1495G Disease APC_HUMAN S722G Disease APC_HUMAN S906Y Disease APC_HUMAN G2502S Polymorphism APC_HUMAN R414C Disease APC_HUMAN T1496S Polymorphism APC_HUMAN S171I Disease APC_HUMAN T1313A Disease APC_HUMAN P1176L Disease APC_HUMAN L2839F Disease APC_HUMAN I1259T Disease APC_HUMAN F1197S Disease APC_HUMAN I880T Disease APC_HUMAN I1307K Polymorphism APC_HUMAN D1822V Polymorphism APC_HUMAN S784T Disease APC_HUMAN N1118D Polymorphism APC_HUMAN R1171C Disease APC_HUMAN Y1027C Disease APC_HUMAN T1292M Polymorphism APC_HUMAN R1171H Disease APC_HUMAN A1184P Disease APC_HUMAN V1326A Disease APC_HUMAN G817C Disease APC_HUMAN S2621C Disease APC_HUMAN S1973T Polymorphism APC_HUMAN N942D Disease APC_HUMAN R99W Disease SEZ6L_HUMAN M430I Polymorphism APOL5_HUMAN T323M Polymorphism APOL5_HUMAN S406C Polymorphism APOL5_HUMAN T272M Polymorphism TRI16_HUMAN E121D Polymorphism MUC1_HUMAN S1142N Polymorphism MUC1_HUMAN V1117M Polymorphism CEBPB_HUMAN G195S Polymorphism ANX11_HUMAN R230C Polymorphism ANX11_HUMAN I457V Polymorphism MSMB_HUMAN D80A Polymorphism MSMB_HUMAN I25M Polymorphism MSMB_HUMAN D92G Polymorphism MSMB_HUMAN I87T Polymorphism MSMB_HUMAN L17S Polymorphism MSMB_HUMAN W52R Polymorphism MSMB_HUMAN V98L Polymorphism MSMB_HUMAN Q53R Polymorphism MSMB_HUMAN E91G Polymorphism POPD1_HUMAN R129W Polymorphism S10A9_HUMAN H20R Polymorphism HPT_HUMAN N193D Polymorphism HPT_HUMAN E194K Polymorphism HPT_HUMAN D397H Polymorphism SAR1B_HUMAN D137N Disease SAR1B_HUMAN S179R Disease MAVS_HUMAN S409F Polymorphism IL3_HUMAN P27S Polymorphism IL3_HUMAN R15H Polymorphism PCDH8_HUMAN E39A Polymorphism PCDH8_HUMAN V743A Polymorphism PCDH8_HUMAN W7R Polymorphism FABPI_HUMAN A54T Polymorphism TNPO1_HUMAN D26E Polymorphism CV019_HUMAN I579V Polymorphism NIPS1_HUMAN E245K Polymorphism GSCL_HUMAN R47C Polymorphism HB21_HUMAN D167G Polymorphism DSRAD_HUMAN F1165S Disease DSRAD_HUMAN L923P Disease DSRAD_HUMAN R384K Polymorphism DSRAD_HUMAN C966F Disease IPK1_HUMAN P55S Polymorphism IPK1_HUMAN N34S Disease IPK1_HUMAN L14P Disease HSPB1_HUMAN P182L Disease HSPB1_HUMAN T151I Disease HSPB1_HUMAN R127W Disease HSPB1_HUMAN R136W Disease HSPB1_HUMAN S135F Disease RNT2_HUMAN R236W Polymorphism Y0555_HUMAN V106I Polymorphism RFXK_HUMAN Q251E Polymorphism LIPB1_HUMAN L148V Polymorphism CD2L5_HUMAN P356A Polymorphism CD2L5_HUMAN R410Q Polymorphism CD2L5_HUMAN R700L Polymorphism CD2L5_HUMAN V1062M Polymorphism CD2L5_HUMAN T500A Polymorphism CD2L5_HUMAN S624G Polymorphism CD2L5_HUMAN L403F Polymorphism S6A19_HUMAN L242P Disease S6A19_HUMAN E501K Disease S6A19_HUMAN D173N Disease S6A19_HUMAN V252I Polymorphism S6A19_HUMAN R240Q Polymorphism S6A19_HUMAN R57C Disease CADH1_HUMAN T470I Polymorphism CADH1_HUMAN H123Y Disease CADH1_HUMAN E463Q Disease CADH1_HUMAN A617T Disease CADH1_HUMAN N315S Disease CADH1_HUMAN L711V Disease CADH1_HUMAN T193P Disease CADH1_HUMAN V832M Polymorphism CADH1_HUMAN R598Q Disease CADH1_HUMAN D370A Disease CADH1_HUMAN V487A Disease CADH1_HUMAN A592T Disease CADH1_HUMAN L478P Polymorphism CADH1_HUMAN L630V Polymorphism CADH1_HUMAN D244G Disease CADH1_HUMAN T340A Disease CADH1_HUMAN S838G Disease CADH1_HUMAN E880K Polymorphism CADH1_HUMAN C695R Polymorphism CADH1_HUMAN E336D Polymorphism CADH1_HUMAN V473D Disease UBP8_HUMAN A827G Polymorphism UBP8_HUMAN D443G Polymorphism CP8B1_HUMAN R234H Polymorphism CST9_HUMAN H109P Polymorphism AAAT_HUMAN P17A Polymorphism AAAT_HUMAN V512L Polymorphism IDD_HUMAN V473A Polymorphism PS1C2_HUMAN G25D Polymorphism PS1C2_HUMAN P84L Polymorphism FAM3B_HUMAN V14M Polymorphism RAB14_HUMAN T4A Polymorphism MOX2R_HUMAN Q177H Polymorphism MOX2R_HUMAN R89K Polymorphism MOX2R_HUMAN P121T Polymorphism IBP1_HUMAN I253M Polymorphism IBP1_HUMAN V183I Polymorphism MTR1B_HUMAN G24E Polymorphism MTR1B_HUMAN L66F Polymorphism PEX2_HUMAN E55K Disease EKI2_HUMAN R227Q Polymorphism P2RX7_HUMAN H155Y Polymorphism P2RX7_HUMAN T357S Polymorphism P2RX7_HUMAN Q460R Polymorphism P2RX7_HUMAN E496A Polymorphism P2RX7_HUMAN R270H Polymorphism ANFC_HUMAN R82Q Polymorphism PANK4_HUMAN Q684R Polymorphism ALG8_HUMAN G275D Disease ALG8_HUMAN T47P Disease ALG8_HUMAN N222S Polymorphism PPARA_HUMAN R409T Polymorphism PPARA_HUMAN L162V Polymorphism PPARA_HUMAN D304N Polymorphism PPARA_HUMAN R127Q Polymorphism PPARA_HUMAN A268V Polymorphism PPARA_HUMAN V227A Polymorphism ACHB2_HUMAN Q397H Polymorphism ACHB2_HUMAN V287L Disease ACHB2_HUMAN V287M Disease LX12B_HUMAN H578Q Disease LX12B_HUMAN L426P Disease S45A2_HUMAN P58A Disease S45A2_HUMAN W202C Disease S45A2_HUMAN T500P Polymorphism S45A2_HUMAN V507L Polymorphism S45A2_HUMAN A477T Disease S45A2_HUMAN L361P Disease S45A2_HUMAN A486V Disease S45A2_HUMAN F374L Polymorphism S45A2_HUMAN P58S Disease S45A2_HUMAN Y317C Disease S45A2_HUMAN E272K Polymorphism S45A2_HUMAN D157N Disease S45A2_HUMAN G188V Disease CDKN3_HUMAN L95F Disease CDKN3_HUMAN I108V Disease CDKN3_HUMAN K195I Disease CDKN3_HUMAN F78L Disease CDKN3_HUMAN W31R Disease CDKN3_HUMAN N187S Disease CDKN3_HUMAN D94V Disease CDKN3_HUMAN C79Y Disease CDKN3_HUMAN N91K Disease ERCC8_HUMAN Y200C Polymorphism CHIO_HUMAN H204R Polymorphism CAD16_HUMAN L191F Polymorphism CAD16_HUMAN H257Y Polymorphism DKK2_HUMAN R146Q Polymorphism OLR1_HUMAN K167N Polymorphism PGBM_HUMAN C1532Y Disease MMP20_HUMAN T281P Polymorphism MMP20_HUMAN D139N Polymorphism MMP20_HUMAN I169L Polymorphism MMP20_HUMAN V275A Polymorphism MMP20_HUMAN T18K Polymorphism URP1_HUMAN R526K Polymorphism URP1_HUMAN A534T Polymorphism CAC1I_HUMAN G1782A Polymorphism CAC1I_HUMAN I1040V Polymorphism CAC1I_HUMAN G1782R Polymorphism SGCD_HUMAN E262K Disease SGCD_HUMAN S151A Disease SGCD_HUMAN Q97R Polymorphism MRGX3_HUMAN D169N Polymorphism CF114_HUMAN S134C Polymorphism OR3A1_HUMAN Q125R Polymorphism A1AG2_HUMAN R38Q Polymorphism A1AG1_HUMAN V174M Polymorphism A1AG1_HUMAN Q38R Polymorphism TRH_HUMAN L8V Polymorphism PP4R1_HUMAN E43K Polymorphism PP4R1_HUMAN S595N Polymorphism PP4R1_HUMAN I470V Polymorphism MOD5_HUMAN F202L Polymorphism FUK_HUMAN R901W Polymorphism FUK_HUMAN V861M Polymorphism FUK_HUMAN R939W Polymorphism FUK_HUMAN R571H Polymorphism FUK_HUMAN A858T Polymorphism FUK_HUMAN A521T Polymorphism FUK_HUMAN P701L Polymorphism FUK_HUMAN V146M Polymorphism FUK_HUMAN R939Q Polymorphism CDAN1_HUMAN F867I Disease CDAN1_HUMAN D1042V Disease CDAN1_HUMAN N598S Disease CDAN1_HUMAN E697K Disease CDAN1_HUMAN R1041W Disease CDAN1_HUMAN P671L Disease CDAN1_HUMAN P1129L Disease CDAN1_HUMAN V868M Disease CDAN1_HUMAN R713W Disease CJ047_HUMAN A412V Polymorphism FGRL1_HUMAN P362Q Polymorphism JIP1_HUMAN S59N Disease DUS23_HUMAN G131S Polymorphism PA24C_HUMAN A127V Polymorphism PA24C_HUMAN D411N Polymorphism PA24C_HUMAN T226S Polymorphism PA24C_HUMAN R430C Polymorphism PA24C_HUMAN A38P Polymorphism PA24C_HUMAN P151L Polymorphism PA24C_HUMAN R148G Polymorphism PA24C_HUMAN I143V Polymorphism PA24C_HUMAN T360P Polymorphism PA24C_HUMAN V142F Polymorphism PA24C_HUMAN E21K Polymorphism PA24C_HUMAN P203S Polymorphism EGFR_HUMAN G719S Disease EGFR_HUMAN P266R Polymorphism EGFR_HUMAN L858R Disease EGFR_HUMAN R98Q Polymorphism EGFR_HUMAN R962G Polymorphism EGFR_HUMAN R521K Polymorphism EGFR_HUMAN V674I Polymorphism EGFR_HUMAN H988P Polymorphism ABCC9_HUMAN A1513T Disease XPA_HUMAN Q185H Disease XPA_HUMAN P94L Disease XPA_HUMAN R130K Disease XPA_HUMAN H244R Disease XPA_HUMAN R228Q Polymorphism XPA_HUMAN C108F Disease XPA_HUMAN L252V Polymorphism RBM6_HUMAN S353F Disease FLVC2_HUMAN V16A Polymorphism PAK3_HUMAN A380E Disease PAK3_HUMAN R67C Disease TAOK3_HUMAN S47N Polymorphism ACADM_HUMAN C116Y Disease ACADM_HUMAN I78T Disease ACADM_HUMAN M326T Disease ACADM_HUMAN C244R Disease ACADM_HUMAN T121I Disease ACADM_HUMAN Y352C Disease ACADM_HUMAN S245L Disease ACADM_HUMAN Y67H Disease ACADM_HUMAN G267R Disease ACADM_HUMAN R206L Disease ACADM_HUMAN R53C Disease ACADM_HUMAN I375T Disease ACADM_HUMAN R281T Disease ACADM_HUMAN G195R Disease ACADM_HUMAN S336R Disease ACADM_HUMAN K329E Disease ACADM_HUMAN G310R Disease ACADM_HUMAN M149I Disease ACADM_HUMAN T193A Disease UBP44_HUMAN A91T Polymorphism FMO6_HUMAN V257I Polymorphism FMO6_HUMAN V127I Polymorphism VN1R4_HUMAN A52V Polymorphism VN1R4_HUMAN R58L Polymorphism VN1R4_HUMAN D220N Polymorphism GDF6_HUMAN K110E Polymorphism SOX9_HUMAN A158T Disease SOX9_HUMAN R152P Disease SOX9_HUMAN F112L Disease SOX9_HUMAN F154L Disease SOX9_HUMAN H165Y Disease SOX9_HUMAN P170R Disease SOX9_HUMAN W143R Disease SOX9_HUMAN A119V Disease SOX9_HUMAN F112S Disease SOX9_HUMAN P108L Disease ARX_HUMAN L343Q Disease ARX_HUMAN P353L Disease ARX_HUMAN G286S Disease ARX_HUMAN L33P Disease ARX_HUMAN R332H Disease ICAL_HUMAN C408S Polymorphism ICAL_HUMAN G592E Polymorphism SCO1_HUMAN P174L Disease SCO1_HUMAN P58S Polymorphism SAP_HUMAN C241S Disease SAP_HUMAN T217I Disease LIPL_HUMAN L392V Disease LIPL_HUMAN A427T Polymorphism LIPL_HUMAN P234L Disease LIPL_HUMAN D36N Polymorphism LIPL_HUMAN S199C Disease LIPL_HUMAN T379A Polymorphism LIPL_HUMAN N318S Disease LIPL_HUMAN G222E Disease LIPL_HUMAN R102S Disease LIPL_HUMAN V370M Polymorphism LIPL_HUMAN A288T Polymorphism TRPM3_HUMAN Q1695R Polymorphism PRPK_HUMAN A25T Polymorphism CPT2_HUMAN S588C Polymorphism CPT2_HUMAN V368I Polymorphism CPT2_HUMAN Q550R Disease CPT2_HUMAN G600R Disease CPT2_HUMAN D553N Disease CPT2_HUMAN P50H Disease CPT2_HUMAN M647V Polymorphism CPT2_HUMAN F448L Disease CPT2_HUMAN Y210D Disease CPT2_HUMAN R631C Disease CPT2_HUMAN P227L Disease CPT2_HUMAN M214T Disease CPT2_HUMAN G549D Disease CPT2_HUMAN S113L Disease CPT2_HUMAN R503C Disease CPT2_HUMAN F352C Polymorphism CPT2_HUMAN P604S Disease CPT2_HUMAN R151Q Disease CPT2_HUMAN R296Q Disease CPT2_HUMAN Y628S Disease CPT2_HUMAN Y479F Disease CPT2_HUMAN E174K Disease CPT2_HUMAN F383Y Disease COBA2_HUMAN R1034C Disease COBA2_HUMAN R1600Q Polymorphism COBA2_HUMAN P1316T Polymorphism COBA2_HUMAN D593G Polymorphism COBA2_HUMAN G955E Disease COBA2_HUMAN G661R Disease COBA2_HUMAN P879L Polymorphism COBA2_HUMAN G808E Disease COBA2_HUMAN E824K Polymorphism GLI1_HUMAN G933D Polymorphism GLI1_HUMAN D884A Polymorphism GLI1_HUMAN E1100Q Polymorphism PRDM1_HUMAN G38S Polymorphism MELPH_HUMAN G172D Polymorphism MELPH_HUMAN V374A Polymorphism MELPH_HUMAN H347R Polymorphism MELPH_HUMAN L153P Polymorphism MELPH_HUMAN R139W Polymorphism MELPH_HUMAN D163N Polymorphism MELPH_HUMAN R35W Disease EPHA8_HUMAN V444M Polymorphism C3AR_HUMAN V136A Polymorphism GASR_HUMAN V125I Polymorphism GASR_HUMAN R215H Polymorphism GASR_HUMAN L37F Polymorphism GASR_HUMAN R319Q Polymorphism GNAT2_HUMAN G182D Polymorphism HNMT_HUMAN T105I Polymorphism IL5RA_HUMAN I129V Polymorphism IL5RA_HUMAN V262A Polymorphism SLC31_HUMAN M467K Disease SLC31_HUMAN L678P Disease SLC31_HUMAN P615T Disease SLC31_HUMAN F648S Disease SLC31_HUMAN R365W Disease SLC31_HUMAN T341A Disease SLC31_HUMAN P508A Disease SLC31_HUMAN R362C Disease SLC31_HUMAN T652R Disease SLC31_HUMAN T216M Disease SLC31_HUMAN Y582H Disease SLC31_HUMAN R452W Disease SLC31_HUMAN P128Q Disease SLC31_HUMAN R181Q Disease SLC31_HUMAN M618I Polymorphism SLC31_HUMAN M467T Disease SLC31_HUMAN Y461H Disease SLC31_HUMAN E268K Disease FUCO_HUMAN L405R Disease FUCO_HUMAN G60D Disease FUCO_HUMAN S63L Disease FUCO_HUMAN C264S Polymorphism FUCO_HUMAN Q281R Polymorphism FUCO_HUMAN P5R Polymorphism ARY2_HUMAN K282T Polymorphism ARY2_HUMAN P228L Polymorphism ARY2_HUMAN K268R Polymorphism ARY2_HUMAN R64Q Polymorphism ARY2_HUMAN R197Q Polymorphism ARY2_HUMAN L24I Polymorphism ARY2_HUMAN G286E Polymorphism ARY2_HUMAN D122N Polymorphism ARY2_HUMAN L137F Polymorphism ARY2_HUMAN R64W Polymorphism ARY2_HUMAN Q145P Polymorphism ARY2_HUMAN I114T Polymorphism BUB1B_HUMAN Q349R Disease BUB1B_HUMAN V618A Disease BUB1B_HUMAN M15T Disease CHK2_HUMAN R145W Disease CHK2_HUMAN E64K Disease CHK2_HUMAN I157T Polymorphism CHK2_HUMAN R145P Disease CHK2_HUMAN I448S Polymorphism CHK2_HUMAN R181C Disease CHK2_HUMAN Y327C Disease CHK2_HUMAN R181H Disease CHK2_HUMAN L436M Polymorphism CHK2_HUMAN G167R Disease CHK2_HUMAN P85L Disease CHK2_HUMAN T476K Disease CHK2_HUMAN R318H Disease CHK2_HUMAN E501K Polymorphism CHK2_HUMAN E239K Disease CHK2_HUMAN I251F Disease CHK2_HUMAN R180C Disease CHK2_HUMAN L512V Polymorphism CHK2_HUMAN T323P Disease CHK2_HUMAN F447I Polymorphism CHK2_HUMAN R180H Disease CHK2_HUMAN A17S Disease CHK2_HUMAN N446K Polymorphism RBM19_HUMAN R921Q Polymorphism RBM19_HUMAN T623I Polymorphism RBM19_HUMAN A665T Polymorphism RBM19_HUMAN R609H Polymorphism DHSO_HUMAN L238Q Polymorphism LY86_HUMAN M160V Polymorphism AKIP_HUMAN Q107H Polymorphism C1QR1_HUMAN V318A Polymorphism CHIT1_HUMAN G102S Polymorphism CFAB_HUMAN D651E Polymorphism CFAB_HUMAN G252S Polymorphism CFAB_HUMAN R32Q Polymorphism CFAB_HUMAN R32W Polymorphism CFAB_HUMAN W28R Polymorphism CFAB_HUMAN A736S Polymorphism CFAB_HUMAN W28Q Polymorphism CFAB_HUMAN K565E Polymorphism CFAB_HUMAN L9H Polymorphism HMGCL_HUMAN D42H Disease HMGCL_HUMAN E279K Disease HMGCL_HUMAN H233R Disease HMGCL_HUMAN D42G Disease HMGCL_HUMAN D42E Disease HMGCL_HUMAN R41Q Disease HMGCL_HUMAN V70L Disease VTDB_HUMAN D432E Polymorphism VTDB_HUMAN K436T Polymorphism VTDB_HUMAN R445H Polymorphism VTDB_HUMAN R445C Polymorphism NFL_HUMAN P7R Disease NFL_HUMAN P7Q Disease NFL_HUMAN D467N Polymorphism NFL_HUMAN Q331P Disease NFL_HUMAN L335P Disease NFL_HUMAN P21S Disease NFL_HUMAN E395K Disease NFL_HUMAN P7L Disease NFL_HUMAN E89K Disease NFL_HUMAN N97S Disease CTDP1_HUMAN T340M Polymorphism MMP11_HUMAN E44K Polymorphism MMP11_HUMAN P61L Polymorphism MMP11_HUMAN S86P Polymorphism MMP11_HUMAN V38A Polymorphism CN103_HUMAN T398I Polymorphism CN103_HUMAN Q214E Polymorphism MMP14_HUMAN M355I Polymorphism MMP14_HUMAN R6K Polymorphism MMP14_HUMAN A4T Polymorphism MMP14_HUMAN S8P Polymorphism MMP14_HUMAN I233V Polymorphism MMP14_HUMAN D273N Polymorphism MMP14_HUMAN R302W Polymorphism CDN2C_HUMAN A72P Disease EDN3_HUMAN C159F Disease EDN3_HUMAN A17T Disease EDN3_HUMAN A224T Disease EDN3_HUMAN Y127C Disease IFNK_HUMAN E133K Polymorphism SYT8_HUMAN R143Q Polymorphism SYT8_HUMAN T152M Polymorphism FDFT_HUMAN K45R Polymorphism FDFT_HUMAN L392P Polymorphism UBA3_HUMAN K9R Polymorphism ACHE_HUMAN S163L Disease ACHE_HUMAN P265L Disease ACHE_HUMAN L289F Disease ACHE_HUMAN G13R Disease ACHE_HUMAN A431P Disease ACHE_HUMAN R167L Disease ACHE_HUMAN T284P Disease ACHE_HUMAN P141L Disease ACHE_HUMAN L98P Disease ACHE_HUMAN L241F Disease ACHE_HUMAN R331W Disease CD1A_HUMAN I30T Polymorphism CD1A_HUMAN W68C Polymorphism DISC1_HUMAN S704C Polymorphism DISC1_HUMAN Q264R Polymorphism OR2B2_HUMAN Q234R Polymorphism LOXL1_HUMAN G153D Polymorphism HPS1_HUMAN A186V Polymorphism HPS1_HUMAN E100D Polymorphism HPS1_HUMAN G283W Polymorphism HPS1_HUMAN P491R Polymorphism HPS1_HUMAN V630I Polymorphism HPS1_HUMAN Q603R Polymorphism CO9A1_HUMAN L882V Polymorphism CO9A1_HUMAN K870R Polymorphism CY24B_HUMAN P414L Disease CY24B_HUMAN P414H Disease CY24B_HUMAN A155T Disease CY24B_HUMAN P338H Disease CY24B_HUMAN V533D Disease CY24B_HUMAN W452R Disease CY24B_HUMAN W515C Disease CY24B_HUMAN M404R Disease CY24B_HUMAN E224V Disease CY24B_HUMAN H221Y Disease CY24B_HUMAN H100R Disease CY24B_HUMAN H221R Disease CY24B_HUMAN G407E Disease CY24B_HUMAN H100Y Disease CY24B_HUMAN H221N Disease CY24B_HUMAN G222L Disease CY24B_HUMAN G407R Disease CY24B_HUMAN C536R Disease CY24B_HUMAN R355P Disease CY24B_HUMAN S332P Disease CY24B_HUMAN C243S Disease CY24B_HUMAN E308K Disease CY24B_HUMAN G321E Disease CY24B_HUMAN D499G Disease CY24B_HUMAN P303R Disease CY24B_HUMAN H208Q Disease CY24B_HUMAN C243R Disease CY24B_HUMAN H118R Disease CY24B_HUMAN C243Y Disease CY24B_HUMAN G19R Disease CY24B_HUMAN H208Y Disease CY24B_HUMAN A56E Disease CY24B_HUMAN H302N Disease CY24B_HUMAN C58R Disease CY24B_HUMAN G388A Disease CY24B_HUMAN R53S Disease CY24B_HUMAN I324F Disease CY24B_HUMAN S421P Disease GRAH_HUMAN R84Q Polymorphism UNG_HUMAN F251S Disease ADDA_HUMAN R6C Polymorphism ADDA_HUMAN S586C Polymorphism ADDA_HUMAN Y270N Polymorphism ADDA_HUMAN N510I Polymorphism ADDA_HUMAN E376D Polymorphism ADDA_HUMAN G460W Polymorphism TRIB3_HUMAN Q84R Polymorphism CO4A3_HUMAN R1661C Disease CO4A3_HUMAN G640R Disease CO4A3_HUMAN R408H Polymorphism CO4A3_HUMAN G1277S Disease CO4A3_HUMAN G43R Polymorphism CO4A3_HUMAN G1167R Disease CO4A3_HUMAN R1215Q Disease CO4A3_HUMAN D326Y Polymorphism CO4A3_HUMAN G407R Disease CO4A3_HUMAN H451R Polymorphism CO4A3_HUMAN G162E Polymorphism CO4A3_HUMAN D1269E Polymorphism CO4A3_HUMAN I1330T Disease CO4A3_HUMAN G297E Disease CO4A3_HUMAN G1207E Disease CO4A3_HUMAN G1334E Disease CO4A3_HUMAN Q1495R Polymorphism CO4A3_HUMAN L574P Polymorphism CO4A3_HUMAN D1347E Disease CO4A3_HUMAN L1474P Polymorphism ALAT_HUMAN H13N Polymorphism INHA_HUMAN A257T Polymorphism LYAM2_HUMAN S149R Polymorphism LYAM2_HUMAN A21S Polymorphism LYAM2_HUMAN L575F Polymorphism LYAM2_HUMAN M31I Polymorphism LYAM2_HUMAN P550S Polymorphism LYAM2_HUMAN C130W Polymorphism LYAM2_HUMAN E295K Polymorphism LYAM2_HUMAN H468Y Polymorphism LYAM2_HUMAN E421Q Polymorphism LYAM2_HUMAN Q257P Polymorphism TNR5_HUMAN P227A Polymorphism TNR5_HUMAN C83R Disease TNR5_HUMAN S124L Polymorphism HRH2_HUMAN K231R Polymorphism HRH2_HUMAN N217D Polymorphism HRH2_HUMAN V268M Polymorphism ZN576_HUMAN P81L Polymorphism CENPF_HUMAN K3202N Polymorphism P2RX4_HUMAN S242G Polymorphism MCAT_HUMAN R133W Disease MCAT_HUMAN D231H Disease MCAT_HUMAN Q238R Disease PLMN_HUMAN K453I Polymorphism PLMN_HUMAN E57K Polymorphism PLMN_HUMAN D472N Polymorphism PLMN_HUMAN I46R Polymorphism PLMN_HUMAN R523W Polymorphism PLMN_HUMAN V374F Disease PLMN_HUMAN R261H Polymorphism PLMN_HUMAN A494V Polymorphism PLMN_HUMAN A620T Disease PLMN_HUMAN R235H Disease PLMN_HUMAN S591P Disease PLMN_HUMAN R408W Polymorphism PLMN_HUMAN H133Q Polymorphism CTL2_HUMAN R154Q Polymorphism ABCCD_HUMAN S228N Polymorphism SMRC1_HUMAN P1075H Polymorphism TPM2_HUMAN E117A Disease TPM2_HUMAN Q147P Disease TPM2_HUMAN R91G Disease MAGA1_HUMAN T32A Polymorphism MAGA1_HUMAN R72Q Polymorphism GDE_HUMAN G1448R Disease GDE_HUMAN G1115R Polymorphism GDE_HUMAN R387Q Polymorphism GDE_HUMAN P1067S Polymorphism GDE_HUMAN E1343K Polymorphism MAGB3_HUMAN T112I Polymorphism MAGB3_HUMAN H107R Polymorphism BLVRB_HUMAN R45Q Polymorphism DHCR7_HUMAN C380S Disease DHCR7_HUMAN C380R Disease DHCR7_HUMAN I297T Disease DHCR7_HUMAN R352W Disease DHCR7_HUMAN V353A Disease DHCR7_HUMAN C380Y Disease DHCR7_HUMAN R362C Disease DHCR7_HUMAN Y408H Disease DHCR7_HUMAN W182L Disease DHCR7_HUMAN A247V Disease DHCR7_HUMAN R352Q Disease DHCR7_HUMAN F255L Disease DHCR7_HUMAN G410S Disease DHCR7_HUMAN W182C Disease DHCR7_HUMAN L99P Disease DHCR7_HUMAN H119L Disease DHCR7_HUMAN K198E Disease DHCR7_HUMAN H405Y Disease DHCR7_HUMAN H426P Disease DHCR7_HUMAN E448K Disease DHCR7_HUMAN F235S Disease DHCR7_HUMAN E448Q Disease DHCR7_HUMAN Q107H Disease DHCR7_HUMAN G138V Disease DHCR7_HUMAN G244R Disease DHCR7_HUMAN L68P Disease DHCR7_HUMAN R242H Disease DHCR7_HUMAN R404C Disease DHCR7_HUMAN G410R Disease DHCR7_HUMAN C311G Disease DHCR7_HUMAN T289I Disease DHCR7_HUMAN I145L Disease DHCR7_HUMAN T154M Disease DHCR7_HUMAN S397L Disease DHCR7_HUMAN V281M Disease DHCR7_HUMAN R404S Disease DHCR7_HUMAN C311Y Disease DHCR7_HUMAN S113C Disease DHCR7_HUMAN S169L Disease DHCR7_HUMAN Y324H Disease DHCR7_HUMAN G344R Disease DHCR7_HUMAN W248C Disease DHCR7_HUMAN G147D Disease DHCR7_HUMAN R242C Disease DHCR7_HUMAN P51S Disease DHCR7_HUMAN L157P Disease DHCR7_HUMAN R443C Disease DHCR7_HUMAN R450L Disease DHCR7_HUMAN R446Q Disease DHCR7_HUMAN V326L Disease DHCR7_HUMAN L109P Disease DHCR7_HUMAN T93M Disease DHCR7_HUMAN C183Y Disease FBN3_HUMAN L1904P Polymorphism FBN3_HUMAN D2610E Polymorphism FBN3_HUMAN R935L Polymorphism FBN3_HUMAN G119A Polymorphism FBN3_HUMAN R1083W Polymorphism FBN3_HUMAN R473Q Polymorphism FBN3_HUMAN P1958H Polymorphism FBN3_HUMAN N1869K Polymorphism FBN3_HUMAN V938F Polymorphism FBN3_HUMAN S1293N Polymorphism FBN3_HUMAN V1326I Polymorphism FBN3_HUMAN S1614G Polymorphism FBN3_HUMAN N662D Polymorphism FBN3_HUMAN R1806Q Polymorphism ELOV4_HUMAN I267T Polymorphism ELOV4_HUMAN M299V Polymorphism ZN286_HUMAN Y90H Polymorphism ENW1_HUMAN S307N Polymorphism ENW1_HUMAN R138Q Polymorphism ENW1_HUMAN V129A Polymorphism ENW1_HUMAN S477F Polymorphism SMDF_HUMAN G46R Polymorphism KI3S1_HUMAN R166H Polymorphism DECR_HUMAN K333N Polymorphism PMP22_HUMAN S72L Disease PMP22_HUMAN R157G Polymorphism PMP22_HUMAN L16P Disease PMP22_HUMAN M69K Disease PMP22_HUMAN R157W Disease PMP22_HUMAN S76I Disease PMP22_HUMAN S72W Disease PMP22_HUMAN S72P Disease PMP22_HUMAN V30M Disease PMP22_HUMAN T118M Polymorphism PMP22_HUMAN G100E Disease PMP22_HUMAN S79P Disease PMP22_HUMAN G93R Disease PMP22_HUMAN L80P Disease PMP22_HUMAN G100R Disease PMP22_HUMAN S79C Disease PMP22_HUMAN L19P Disease PMP22_HUMAN D37V Disease PMP22_HUMAN H12Q Disease PMP22_HUMAN L147R Disease PMP22_HUMAN L105R Disease PMP22_HUMAN I137V Polymorphism PMP22_HUMAN A67P Disease PMP22_HUMAN G150D Disease PMP22_HUMAN G150C Disease PMP22_HUMAN G107V Disease TDGF1_HUMAN Y43D Polymorphism UPA10_HUMAN F5P Polymorphism GLYG2_HUMAN V270A Polymorphism M2GD_HUMAN P646S Polymorphism M2GD_HUMAN H109R Disease M2GD_HUMAN S279P Polymorphism M2GD_HUMAN G530A Polymorphism ALG3_HUMAN G118D Disease CP4FC_HUMAN P13L Polymorphism CP4FC_HUMAN R188C Polymorphism CP4FC_HUMAN V90I Polymorphism CP4FC_HUMAN D76N Polymorphism HA23_HUMAN Q57E Polymorphism CH015_HUMAN R6H Polymorphism TNNI2_HUMAN R173Q Disease TPP1_HUMAN R206C Disease TPP1_HUMAN S153P Disease TPP1_HUMAN R206H Disease TPP1_HUMAN A454E Disease TPP1_HUMAN E343K Disease TPP1_HUMAN N286S Disease TPP1_HUMAN R447H Disease TPP1_HUMAN I287N Disease TPP1_HUMAN G389E Disease TPP1_HUMAN G473R Disease TPP1_HUMAN F481C Disease TPP1_HUMAN S475L Disease TPP1_HUMAN V277M Disease TPP1_HUMAN R127Q Disease TPP1_HUMAN K428N Disease TPP1_HUMAN Q422H Disease TPP1_HUMAN T353P Disease TPP1_HUMAN V385D Disease TPP1_HUMAN C365R Disease TPP1_HUMAN Q100R Polymorphism TPP1_HUMAN H175R Polymorphism TPP1_HUMAN G77R Disease TPP1_HUMAN G284V Disease TPP1_HUMAN C365Y Disease TPP1_HUMAN Q278P Disease U2AFL_HUMAN S155G Polymorphism COQ6_HUMAN V406M Polymorphism FCMD_HUMAN N446D Polymorphism FCMD_HUMAN C250G Disease APOL1_HUMAN I228M Polymorphism APOL1_HUMAN K255R Polymorphism APOL1_HUMAN K150E Polymorphism GPX2_HUMAN R146C Polymorphism GPX2_HUMAN P126L Polymorphism GPX2_HUMAN I176M Polymorphism LIPG_HUMAN F224I Polymorphism LIPG_HUMAN P348T Polymorphism LIPG_HUMAN T161A Polymorphism GYS2_HUMAN N39S Disease GYS2_HUMAN M491R Disease GYS2_HUMAN A339P Disease GYS2_HUMAN P479Q Disease GYS2_HUMAN H446D Disease GYS2_HUMAN S483P Disease TRFE_HUMAN G671E Polymorphism TRFE_HUMAN P589S Polymorphism TRFE_HUMAN G277S Polymorphism TRFE_HUMAN H319R Polymorphism TRFE_HUMAN K646E Polymorphism TRFE_HUMAN T645P Polymorphism TRFE_HUMAN A477P Disease TRFE_HUMAN G142S Polymorphism TRFE_HUMAN W377C Polymorphism TRFE_HUMAN D296G Polymorphism FCERA_HUMAN S101N Polymorphism FCERA_HUMAN K84R Polymorphism NPHN_HUMAN E117K Polymorphism NPHN_HUMAN R408Q Polymorphism NPHN_HUMAN N1077S Polymorphism ADA_HUMAN L106P Disease ADA_HUMAN L151M Disease ADA_HUMAN R210C Disease ADA_HUMAN T232I Disease ADA_HUMAN R210H Disease ADA_HUMAN V128M Disease ADA_HUMAN P273L Disease ADA_HUMAN P296Q Disease ADA_HUMAN R100Q Disease ADA_HUMAN G215R Disease ADA_HUMAN A328V Disease ADA_HUMAN R148W Disease ADA_HUMAN R148Q Disease ADA_HUMAN A82D Disease ADA_HUMAN R100W Disease ADA_HUMAN A178D Disease ADA_HUMAN L303R Disease ADA_HUMAN R100L Disease ADA_HUMAN Q198P Disease ADA_HUMAN S290L Disease ADA_HUMAN R141Q Disease ADA_HUMAN K79R Polymorphism ADA_HUMAN V176M Disease ADA_HUMAN A214T Disease ADA_HUMAN G139E Disease ADA_HUMAN H14D Disease ADA_HUMAN R75W Disease ADA_HUMAN R155H Disease ADA_HUMAN G19R Disease ADA_HUMAN G73C Disease ADA_HUMAN R155C Disease ADA_HUMAN D7N Polymorphism GPR40_HUMAN R211H Polymorphism AXN1_HUMAN G650S Disease AXN1_HUMAN G425S Disease AXN1_HUMAN L106R Disease AXN1_HUMAN P345L Disease BDNF_HUMAN T2I Disease BDNF_HUMAN R125M Polymorphism BDNF_HUMAN V66M Polymorphism BDNF_HUMAN Q75H Polymorphism BDNF_HUMAN R127L Polymorphism HMMR_HUMAN V368A Polymorphism K1C12_HUMAN L140R Disease K1C12_HUMAN R20W Polymorphism K1C12_HUMAN M129T Disease K1C12_HUMAN R135I Disease K1C12_HUMAN V143L Disease K1C12_HUMAN R135G Disease K1C12_HUMAN Q130P Disease K1C12_HUMAN R135T Disease K1C12_HUMAN Y429D Disease RRP5_HUMAN D1871A Polymorphism NUDT6_HUMAN R209Q Polymorphism BRCA2_HUMAN F1524V Disease BRCA2_HUMAN E1901K Disease BRCA2_HUMAN R448H Disease BRCA2_HUMAN D935N Disease BRCA2_HUMAN K2729N Disease BRCA2_HUMAN V355L Disease BRCA2_HUMAN N2706S Polymorphism BRCA2_HUMAN Y42C Disease BRCA2_HUMAN A2466V Polymorphism BRCA2_HUMAN N1147S Polymorphism BRCA2_HUMAN I3412V Polymorphism BRCA2_HUMAN N60S Disease BRCA2_HUMAN D1902N Polymorphism BRCA2_HUMAN E2856A Polymorphism BRCA2_HUMAN V2728I Polymorphism BRCA2_HUMAN D1513N Polymorphism BRCA2_HUMAN T3013I Disease BRCA2_HUMAN Q2421H Disease BRCA2_HUMAN E2275G Disease BRCA2_HUMAN N886I Polymorphism BRCA2_HUMAN S1179N Disease BRCA2_HUMAN H2074N Polymorphism BRCA2_HUMAN R2502H Disease BRCA2_HUMAN N1805S Polymorphism BRCA2_HUMAN N289H Polymorphism BRCA2_HUMAN E462G Disease BRCA2_HUMAN D707Y Polymorphism BRCA2_HUMAN S2835P Polymorphism BRCA2_HUMAN K2950N Disease BRCA2_HUMAN T2031A Disease BRCA2_HUMAN R2787H Disease BRCA2_HUMAN G1771D Polymorphism BRCA2_HUMAN N987I Polymorphism BRCA2_HUMAN H2415N Disease BRCA2_HUMAN Y2094C Disease BRCA2_HUMAN A2951T Polymorphism BRCA2_HUMAN L613R Disease BRCA2_HUMAN P222S Disease BRCA2_HUMAN I2490T Polymorphism BRCA2_HUMAN E2089D Disease BRCA2_HUMAN G2793R Disease BRCA2_HUMAN V1804A Disease BRCA2_HUMAN T1679I Disease BRCA2_HUMAN T1915M Disease BRCA2_HUMAN V2118L Disease BRCA2_HUMAN G2274V Disease BRCA2_HUMAN C1580Y Disease BRCA2_HUMAN K322Q Polymorphism BRCA2_HUMAN A75P Disease BRCA2_HUMAN I1929V Disease BRCA2_HUMAN T3357R Disease BRCA2_HUMAN T2515I Disease BRCA2_HUMAN S2072C Disease BRCA2_HUMAN D3095E Polymorphism BRCA2_HUMAN N991D Polymorphism BRCA2_HUMAN T3374I Polymorphism BRCA2_HUMAN N108H Polymorphism BRCA2_HUMAN I3103M Disease BRCA2_HUMAN C1290Y Polymorphism BRCA2_HUMAN F81L Disease BRCA2_HUMAN I2944F Polymorphism BRCA2_HUMAN T630I Disease BRCA2_HUMAN L2480V Polymorphism BRCA2_HUMAN H2440R Polymorphism BRCA2_HUMAN P2096L Disease BRCA2_HUMAN K3257R Polymorphism BRCA2_HUMAN K1445T Disease BRCA2_HUMAN G2353R Disease BRCA2_HUMAN Y3098H Disease BRCA2_HUMAN V2969M Polymorphism BRCA2_HUMAN L929S Polymorphism BRCA2_HUMAN M784V Polymorphism BRCA2_HUMAN K2128N Disease BRCA2_HUMAN V3244I Polymorphism BRCA2_HUMAN E1036K Disease BRCA2_HUMAN G1529R Disease BRCA2_HUMAN R2034C Polymorphism BRCA2_HUMAN H1561N Polymorphism BRCA2_HUMAN E1593D Polymorphism BRCA2_HUMAN V211A Disease BRCA2_HUMAN F32L Disease BRCA2_HUMAN M3118T Disease BRCA2_HUMAN R2488K Disease BRCA2_HUMAN T2722R Disease BRCA2_HUMAN T1414M Polymorphism BRCA2_HUMAN S1106R Disease BRCA2_HUMAN K3196E Disease BRCA2_HUMAN D1420Y Polymorphism BRCA2_HUMAN N1880K Polymorphism BRCA2_HUMAN D2723H Disease BRCA2_HUMAN N3124I Disease BRCA2_HUMAN K327E Disease BRCA2_HUMAN G405R Disease BRCA2_HUMAN R3276S Polymorphism BRCA2_HUMAN K53R Disease BRCA2_HUMAN K2162R Polymorphism BRCA2_HUMAN T582P Polymorphism BRCA2_HUMAN F2293L Disease BRCA2_HUMAN D728A Disease BRCA2_HUMAN V2138F Polymorphism BRCA2_HUMAN T431I Disease BRCA2_HUMAN S976F Polymorphism BRCA2_HUMAN T598A Polymorphism BRCA2_HUMAN G3076E Polymorphism BRCA2_HUMAN P201R Disease BRCA2_HUMAN C554W Disease BRCA2_HUMAN P3063S Disease BRCA2_HUMAN H372N Polymorphism BRCA2_HUMAN N1279S Polymorphism WDR41_HUMAN I329V Polymorphism SRRM1_HUMAN R170H Polymorphism GTR4_HUMAN V383I Disease GTR4_HUMAN T78S Polymorphism GTR4_HUMAN A358V Polymorphism GTR4_HUMAN I385T Polymorphism CX020_HUMAN F154L Polymorphism MYO3A_HUMAN S956N Polymorphism MYO3A_HUMAN D204N Polymorphism MYO3A_HUMAN S1313R Polymorphism ZMY12_HUMAN L316F Polymorphism AL2S3_HUMAN V142I Polymorphism AL2S3_HUMAN T528I Polymorphism TBX19_HUMAN S128F Disease GBRA1_HUMAN A322D Disease CN050_HUMAN T83I Polymorphism APOA4_HUMAN G74S Polymorphism APOA4_HUMAN T367S Polymorphism APOA4_HUMAN Q380H Polymorphism APOA4_HUMAN E185K Polymorphism APOA4_HUMAN E250K Polymorphism APOA4_HUMAN K187E Polymorphism APOA4_HUMAN V307L Polymorphism APOA4_HUMAN V13M Polymorphism APOA4_HUMAN N147S Polymorphism APOD_HUMAN S115L Polymorphism APOD_HUMAN T178K Polymorphism APOD_HUMAN F15S Polymorphism OBFC1_HUMAN T151A Polymorphism OBFC1_HUMAN S248C Polymorphism NRTN_HUMAN A96S Disease BCAS4_HUMAN E56D Polymorphism CYTB_HUMAN G4R Disease USE1_HUMAN S154L Polymorphism CAC1F_HUMAN L1364H Disease CAC1F_HUMAN R1049W Disease CAC1F_HUMAN R508Q Disease CAC1F_HUMAN G369D Disease DOC2A_HUMAN G48S Polymorphism SCN5A_HUMAN G298S Disease SCN5A_HUMAN S1710L Disease SCN5A_HUMAN A1924T Disease SCN5A_HUMAN S941N Disease SCN5A_HUMAN N1325S Disease SCN5A_HUMAN D1595N Disease SCN5A_HUMAN R1512W Disease SCN5A_HUMAN L1501V Disease SCN5A_HUMAN R1623Q Disease SCN5A_HUMAN T1645M Disease SCN5A_HUMAN Y1795C Disease SCN5A_HUMAN K1500N Polymorphism SCN5A_HUMAN S1787N Disease SCN5A_HUMAN R1232W Disease SCN5A_HUMAN E1784K Disease SCN5A_HUMAN A735V Disease SCN5A_HUMAN R1623L Disease SCN5A_HUMAN A997S Disease SCN5A_HUMAN L619F Disease SCN5A_HUMAN P1298L Disease SCN5A_HUMAN R367H Disease SCN5A_HUMAN H558R Polymorphism SCN5A_HUMAN D1114N Disease SCN5A_HUMAN D1790G Disease SCN5A_HUMAN G1408R Disease SCN5A_HUMAN T220I Disease SCN5A_HUMAN R1644H Disease SCN5A_HUMAN D1839G Disease SCN5A_HUMAN Y1795H Disease SCN5A_HUMAN T1620M Disease SCN5A_HUMAN R1193Q Disease SCN5A_HUMAN R1826H Disease SCN5A_HUMAN P1090L Polymorphism SCN5A_HUMAN T1304M Disease UCRP_HUMAN S82N Polymorphism IL6RA_HUMAN D358A Polymorphism E2F4_HUMAN T293P Polymorphism E2AK1_HUMAN K558R Polymorphism ID3_HUMAN A105T Polymorphism IKKA_HUMAN I268V Polymorphism RUNX2_HUMAN C123R Disease RUNX2_HUMAN L199F Disease RUNX2_HUMAN F197S Disease RUNX2_HUMAN R169Q Disease RUNX2_HUMAN T205R Disease RUNX2_HUMAN F121C Disease RUNX2_HUMAN R190Q Disease RUNX2_HUMAN M175R Disease RUNX2_HUMAN R190W Disease RUNX2_HUMAN G511S Disease RUNX2_HUMAN R193C Disease RUNX2_HUMAN S118R Disease RUNX2_HUMAN Q209R Disease RUNX2_HUMAN R225Q Disease RUNX2_HUMAN L113R Disease RUNX2_HUMAN S191N Disease RUNX2_HUMAN T200A Disease RUNX2_HUMAN R225W Disease DUFFY_HUMAN G42D Polymorphism DUFFY_HUMAN A100T Polymorphism CP3A5_HUMAN T398N Polymorphism PAX2_HUMAN A334V Polymorphism PAX2_HUMAN G76S Disease ACY2_HUMAN G274R Disease ACY2_HUMAN D68A Disease ACY2_HUMAN F295S Disease ACY2_HUMAN E24G Disease ACY2_HUMAN E285A Disease ACY2_HUMAN Y231C Disease ACY2_HUMAN D114Y Disease ACY2_HUMAN A57T Disease ACY2_HUMAN P181T Disease ACY2_HUMAN I143T Disease ACY2_HUMAN H244R Disease ACY2_HUMAN C152R Disease ACY2_HUMAN H21P Disease ACY2_HUMAN C152W Disease ACY2_HUMAN D249V Disease ACY2_HUMAN R168H Disease ACY2_HUMAN A305E Disease LRC21_HUMAN S591G Polymorphism GALE_HUMAN D103G Disease GALE_HUMAN L313M Disease GALE_HUMAN V94M Disease GALE_HUMAN L183P Disease GALE_HUMAN N34S Disease GALE_HUMAN K257R Disease GALE_HUMAN G90E Disease GALE_HUMAN G319E Disease GALE_HUMAN A180V Polymorphism THIK_HUMAN E172D Polymorphism KIFC1_HUMAN R219Q Polymorphism PRD14_HUMAN K244E Polymorphism GGABP_HUMAN M314V Polymorphism GGABP_HUMAN M261V Polymorphism CDKL1_HUMAN Q274E Polymorphism CDKL1_HUMAN L66P Polymorphism CDKL1_HUMAN K341N Polymorphism CDKL1_HUMAN L329V Polymorphism AT10D_HUMAN V1240I Polymorphism MSX1_HUMAN E78V Disease MSX1_HUMAN G116E Disease MSX1_HUMAN R151S Disease MSX1_HUMAN V114G Disease MSX1_HUMAN M61K Disease MSX1_HUMAN R196P Disease MSX1_HUMAN G91D Disease GUP1_HUMAN M403V Polymorphism FMO2_HUMAN F68Y Polymorphism FMO2_HUMAN R390T Polymorphism FMO2_HUMAN R237Q Polymorphism FMO2_HUMAN S194L Polymorphism FMO2_HUMAN F181S Polymorphism FMO2_HUMAN E313G Polymorphism FMO2_HUMAN N412K Polymorphism FMO2_HUMAN V58I Polymorphism FMO2_HUMAN D35G Polymorphism FMO2_HUMAN F80S Polymorphism ST1C1_HUMAN Y128H Polymorphism ST1C1_HUMAN S255A Polymorphism COX41_HUMAN Y38F Polymorphism SAMP_HUMAN E155G Polymorphism SAMP_HUMAN S158G Polymorphism FUCO2_HUMAN Y371H Polymorphism FUCO2_HUMAN V356M Polymorphism DYNA_HUMAN G59S Disease DYNA_HUMAN A163P Polymorphism NU3M_HUMAN N10D Polymorphism NU3M_HUMAN M53V Polymorphism NU3M_HUMAN T114A Polymorphism DYJ1_HUMAN R277Q Polymorphism ITA2_HUMAN K1127Q Polymorphism ITA2_HUMAN N927S Polymorphism ITA2_HUMAN K534E Polymorphism SFRS5_HUMAN A160S Polymorphism CF015_HUMAN L40F Polymorphism CF015_HUMAN N43D Polymorphism CF015_HUMAN P83A Polymorphism CF015_HUMAN E165K Polymorphism PLEK_HUMAN W92R Polymorphism GCP60_HUMAN E186D Polymorphism PP11_HUMAN E31Q Polymorphism PP11_HUMAN E31V Polymorphism ECH1_HUMAN E41A Polymorphism ADRB1_HUMAN S49G Polymorphism ADRB1_HUMAN R389L Polymorphism ADRB1_HUMAN R389G Polymorphism ADEC1_HUMAN N444S Polymorphism PARK7_HUMAN A171S Polymorphism PARK7_HUMAN A104T Disease PARK7_HUMAN G150S Polymorphism PARK7_HUMAN R98Q Polymorphism PARK7_HUMAN L166P Disease PARK7_HUMAN D149A Disease PARK7_HUMAN M26I Disease PARK7_HUMAN E64D Disease WDR46_HUMAN V341A Polymorphism TAAR6_HUMAN A228V Polymorphism TAAR6_HUMAN C291Y Polymorphism TAAR6_HUMAN G165S Polymorphism TAAR6_HUMAN Y173C Polymorphism TAAR6_HUMAN V326I Polymorphism TAAR6_HUMAN V265I Polymorphism TAAR6_HUMAN I37T Polymorphism DBPA_HUMAN A75T Polymorphism PSME1_HUMAN S55N Polymorphism PSME1_HUMAN T244K Polymorphism K6PF_HUMAN G208D Disease K6PF_HUMAN D542A Disease K6PF_HUMAN R695H Disease K6PF_HUMAN R38L Disease K6PF_HUMAN R38P Disease K6PF_HUMAN R99Q Disease K6PF_HUMAN W685C Disease CLC3A_HUMAN Q197K Polymorphism GCR_HUMAN R477H Disease GCR_HUMAN F29L Polymorphism GCR_HUMAN C421Y Disease GCR_HUMAN L753F Disease GCR_HUMAN I559N Disease GCR_HUMAN L112F Polymorphism GCR_HUMAN D641V Disease GCR_HUMAN R23K Polymorphism GCR_HUMAN D233N Polymorphism GCR_HUMAN V729I Disease GCR_HUMAN F65V Polymorphism GCR_HUMAN N363S Polymorphism GCR_HUMAN I747M Disease GCR_HUMAN G679S Disease RP1L1_HUMAN R136H Polymorphism RP1L1_HUMAN T112S Polymorphism RP1L1_HUMAN A624T Polymorphism RP1L1_HUMAN P1575R Polymorphism RP1L1_HUMAN E2026A Polymorphism RP1L1_HUMAN G1420E Polymorphism RP1L1_HUMAN E795K Polymorphism RP1L1_HUMAN G2365R Polymorphism RP1L1_HUMAN G2149V Polymorphism RP1L1_HUMAN K2251E Polymorphism RP1L1_HUMAN Q2168H Polymorphism RP1L1_HUMAN A1789V Polymorphism RP1L1_HUMAN G1896D Polymorphism RP1L1_HUMAN P44A Polymorphism RP1L1_HUMAN G2322E Polymorphism RP1L1_HUMAN R56C Polymorphism RP1L1_HUMAN H2415R Polymorphism RP1L1_HUMAN R860W Polymorphism RP1L1_HUMAN A1285S Polymorphism RP1L1_HUMAN S1585L Polymorphism RP1L1_HUMAN D1969V Polymorphism RP1L1_HUMAN E2220K Polymorphism RP1L1_HUMAN W1146R Polymorphism RP1L1_HUMAN A1563V Polymorphism RP1L1_HUMAN P2279L Polymorphism RP1L1_HUMAN G1335R Polymorphism RP1L1_HUMAN P792L Polymorphism RP1L1_HUMAN E1324G Polymorphism RP1L1_HUMAN G1319A Polymorphism RP1L1_HUMAN A487V Polymorphism RP1L1_HUMAN A2034T Polymorphism MP2K3_HUMAN R175W Disease MP2K3_HUMAN L215V Disease MPIP1_HUMAN S88F Polymorphism MPIP1_HUMAN R182G Polymorphism MPIP1_HUMAN R182W Polymorphism RAGE_HUMAN Q100R Polymorphism LRP2_HUMAN A2872T Polymorphism LRP2_HUMAN R3305H Polymorphism LRP2_HUMAN I2065T Polymorphism LRP2_HUMAN I4210L Polymorphism LRP2_HUMAN A1287P Polymorphism LRP2_HUMAN K4094E Polymorphism LPIN2_HUMAN S734L Disease BARX1_HUMAN T19A Polymorphism PPR3A_HUMAN R883S Polymorphism PPR3A_HUMAN A931E Disease PPR3A_HUMAN D905Y Disease C4BP_HUMAN W473L Polymorphism C4BP_HUMAN Y357H Polymorphism DPOLZ_HUMAN K1540E Polymorphism DPOLZ_HUMAN S1724T Polymorphism DPOLZ_HUMAN P1791S Polymorphism DPOLZ_HUMAN I2075M Polymorphism DPOLZ_HUMAN E2015V Polymorphism DPOLZ_HUMAN Q1469P Polymorphism DPOLZ_HUMAN I1224T Polymorphism DPOLZ_HUMAN R2762Q Polymorphism DPOLZ_HUMAN G1923R Polymorphism DPOLZ_HUMAN S2607T Polymorphism DPOLZ_HUMAN Q231H Polymorphism DPOLZ_HUMAN V3064I Polymorphism DPOLZ_HUMAN R1970H Polymorphism DPOLZ_HUMAN D1812H Polymorphism DPOLZ_HUMAN Q397P Polymorphism DPOLZ_HUMAN Q1309H Polymorphism DPOLZ_HUMAN M693T Polymorphism DPOLZ_HUMAN P1339T Polymorphism DPOLZ_HUMAN D1713N Polymorphism DPOLZ_HUMAN Y1156C Polymorphism DPOLZ_HUMAN S389T Polymorphism DPOLZ_HUMAN S1302T Polymorphism DPOLZ_HUMAN S1576L Polymorphism DPOLZ_HUMAN R962Q Polymorphism BUB1_HUMAN P648R Disease BUB1_HUMAN H265N Disease BUB1_HUMAN S492Y Disease BUB1_HUMAN E36D Disease BUB1_HUMAN Y259C Disease IL9_HUMAN T117M Polymorphism TSN8_HUMAN G73A Polymorphism TSN8_HUMAN S213A Polymorphism PKD2_HUMAN R28P Polymorphism PKD2_HUMAN W414G Disease PKD2_HUMAN I452V Polymorphism PKD2_HUMAN A356P Disease HXK2_HUMAN Q142H Polymorphism HXK2_HUMAN R844K Polymorphism HXK2_HUMAN L148F Polymorphism HXK2_HUMAN R274C Polymorphism HXK2_HUMAN R497Q Polymorphism HXK2_HUMAN T331I Polymorphism HXK2_HUMAN R775Q Polymorphism HXK2_HUMAN A314P Polymorphism HXK2_HUMAN R353C Polymorphism HXK2_HUMAN A314V Polymorphism HXK2_HUMAN R801Q Polymorphism HXK2_HUMAN A387S Polymorphism HXK2_HUMAN D881N Polymorphism SC6A4_HUMAN K605N Polymorphism SC6A4_HUMAN G56A Polymorphism CLC4D_HUMAN S32G Polymorphism PFD1_HUMAN M67R Polymorphism P73L_HUMAN A187P Disease P73L_HUMAN R243W Disease P73L_HUMAN R243Q Disease P73L_HUMAN C345R Disease P73L_HUMAN K233E Disease P73L_HUMAN R318H Disease P73L_HUMAN Q204L Disease P73L_HUMAN R319C Disease P73L_HUMAN R343Q Disease P73L_HUMAN P279H Disease P73L_HUMAN S184L Disease P73L_HUMAN S560A Disease P73L_HUMAN D351G Disease P73L_HUMAN R337Q Disease ATF4_HUMAN E322D Polymorphism THRB_HUMAN T165M Polymorphism THRB_HUMAN P386T Polymorphism VACHT_HUMAN A13P Polymorphism VACHT_HUMAN R29W Polymorphism GGT1_HUMAN A272V Polymorphism GGT1_HUMAN K52E Polymorphism GGT1_HUMAN A177V Polymorphism CATG_HUMAN N125S Polymorphism HIP1R_HUMAN V782M Polymorphism SYK_HUMAN T595S Polymorphism SPTA1_HUMAN S261P Disease SPTA1_HUMAN R28S Disease SPTA1_HUMAN R41W Disease SPTA1_HUMAN R28H Disease SPTA1_HUMAN R28L Disease SPTA1_HUMAN R28C Disease SPTA1_HUMAN T853R Polymorphism SPTA1_HUMAN R34W Disease SPTA1_HUMAN G46V Disease SPTA1_HUMAN G151D Disease SPTA1_HUMAN A970D Polymorphism SPTA1_HUMAN I24S Disease SPTA1_HUMAN K48R Disease SPTA1_HUMAN I809V Polymorphism SPTA1_HUMAN R45T Disease SPTA1_HUMAN R45S Disease SPTA1_HUMAN Q471P Disease SPTA1_HUMAN L260P Disease SPTA1_HUMAN L1857V Polymorphism SPTA1_HUMAN H469P Disease SPTA1_HUMAN L49F Disease SPTA1_HUMAN V31A Disease SPTA1_HUMAN R701H Polymorphism SPTA1_HUMAN L207P Disease SPTA1_HUMAN D791E Disease PVR_HUMAN A67T Polymorphism PVR_HUMAN I340M Polymorphism FOXP3_HUMAN I363V Disease FOXP3_HUMAN F371C Disease FOXP3_HUMAN A384T Disease FOXP3_HUMAN R397W Disease FANCJ_HUMAN L195P Polymorphism FANCJ_HUMAN P1034L Disease FANCJ_HUMAN P919S Polymorphism FANCJ_HUMAN R419W Polymorphism FANCJ_HUMAN Q255H Disease FANCJ_HUMAN A349P Disease FANCJ_HUMAN R707C Disease FANCJ_HUMAN M299I Disease FANCJ_HUMAN Q540L Polymorphism FANCJ_HUMAN P47A Disease FANCJ_HUMAN V193I Polymorphism FANCJ_HUMAN W647C Disease FANCJ_HUMAN R173C Polymorphism FANCJ_HUMAN F531V Polymorphism FANCJ_HUMAN V935G Polymorphism FANCJ_HUMAN R264W Polymorphism FANCJ_HUMAN C832Y Polymorphism ABCG2_HUMAN S248P Polymorphism ABCG2_HUMAN D620N Polymorphism ABCG2_HUMAN V12M Polymorphism ABCG2_HUMAN F571I Polymorphism ABCG2_HUMAN I206L Polymorphism ABCG2_HUMAN F208S Polymorphism ABCG2_HUMAN Q166E Polymorphism ABCG2_HUMAN T316P Polymorphism ABCG2_HUMAN Q141K Polymorphism ABCG2_HUMAN F489L Polymorphism ABCG2_HUMAN F431L Polymorphism AIRE_HUMAN V301M Disease AIRE_HUMAN P326Q Disease AIRE_HUMAN Y85C Disease AIRE_HUMAN L29P Disease AIRE_HUMAN R15L Disease AIRE_HUMAN K83E Disease AIRE_HUMAN G305S Polymorphism AIRE_HUMAN Y90C Disease AIRE_HUMAN V80L Disease AIRE_HUMAN G228W Disease AIRE_HUMAN C311Y Disease AIRE_HUMAN S278R Polymorphism AIRE_HUMAN T16M Disease AIRE_HUMAN W78R Disease AIRE_HUMAN L28P Disease AIRE_HUMAN L93R Disease AMACR_HUMAN G175D Polymorphism AMACR_HUMAN S201L Polymorphism AMACR_HUMAN S52P Disease AMACR_HUMAN K277E Polymorphism AMACR_HUMAN L107P Disease AMACR_HUMAN V9M Polymorphism MAGA4_HUMAN T173A Polymorphism SPR1B_HUMAN I11T Polymorphism SPR1A_HUMAN I61V Polymorphism SPR1A_HUMAN Q42H Polymorphism ROA1_HUMAN N72S Polymorphism CDSN_HUMAN S202F Polymorphism CDSN_HUMAN M18L Polymorphism CDSN_HUMAN L56F Polymorphism CDSN_HUMAN S150N Polymorphism CDSN_HUMAN S408A Polymorphism CDSN_HUMAN S143N Polymorphism CDSN_HUMAN D527N Polymorphism CDSN_HUMAN S401G Polymorphism CDSN_HUMAN S410L Polymorphism CAV2_HUMAN Q130E Polymorphism CDKL5_HUMAN R175S Disease CDKL5_HUMAN C152F Disease CDKL5_HUMAN Q791P Polymorphism GIMA2_HUMAN H161R Polymorphism RAE1_HUMAN Q471L Disease IBP6_HUMAN R217L Polymorphism IBP6_HUMAN T236P Polymorphism IBP6_HUMAN R217Q Polymorphism IBP6_HUMAN R128G Polymorphism CCL27_HUMAN L96F Polymorphism CCL27_HUMAN I78V Polymorphism EDN1_HUMAN K198N Polymorphism TAF9_HUMAN T6M Polymorphism CHSS1_HUMAN P359S Polymorphism ADRB3_HUMAN W64R Polymorphism ADRB3_HUMAN T265M Polymorphism CF142_HUMAN T320S Polymorphism CF142_HUMAN I159V Polymorphism INADL_HUMAN C744R Polymorphism NU4LM_HUMAN N57S Polymorphism NU4LM_HUMAN C32R Disease NU4LM_HUMAN M36A Polymorphism NU4LM_HUMAN I61T Polymorphism NU4LM_HUMAN V65A Disease TCO2_HUMAN M198T Polymorphism TCO2_HUMAN I219L Polymorphism TCO2_HUMAN S376L Polymorphism TCO2_HUMAN P259R Polymorphism KPCD_HUMAN M593V Polymorphism KPCD_HUMAN M494V Polymorphism KPCD_HUMAN S375F Polymorphism ECP_HUMAN R124T Polymorphism ECP_HUMAN R72C Polymorphism GRID1_HUMAN V529I Polymorphism NCOA4_HUMAN P474R Polymorphism NCOA4_HUMAN F154L Polymorphism NCOA4_HUMAN S94L Polymorphism NCOA4_HUMAN C350R Polymorphism NCOA4_HUMAN L561P Polymorphism CASPA_HUMAN L285F Disease CASPA_HUMAN V410I Polymorphism RFC4_HUMAN V292A Polymorphism HRH3_HUMAN A280V Disease SC23B_HUMAN H489Q Polymorphism TNR14_HUMAN A117T Polymorphism TNR14_HUMAN V241I Polymorphism TNR14_HUMAN K17R Polymorphism TNR14_HUMAN G174E Polymorphism WDR1_HUMAN I184V Polymorphism ATRAP_HUMAN A143V Polymorphism CD2A1_HUMAN A102E Disease CD2A1_HUMAN H83N Disease CD2A1_HUMAN M53I Disease CD2A1_HUMAN R87P Disease CD2A1_HUMAN H98Q Disease CD2A1_HUMAN D74N Disease CD2A1_HUMAN A127S Disease CD2A1_HUMAN D14E Disease CD2A1_HUMAN V95A Disease CD2A1_HUMAN I49S Disease CD2A1_HUMAN I49T Polymorphism CD2A1_HUMAN A132P Disease CD2A1_HUMAN R107C Disease CD2A1_HUMAN A100L Disease CD2A1_HUMAN E26D Disease CD2A1_HUMAN P48L Disease CD2A1_HUMAN E33D Disease CD2A1_HUMAN E88D Disease CD2A1_HUMAN L62P Disease CD2A1_HUMAN R87W Disease CD2A1_HUMAN P114L Disease CD2A1_HUMAN A85T Polymorphism CD2A1_HUMAN D74V Disease CD2A1_HUMAN H98P Disease CD2A1_HUMAN D108Y Disease CD2A1_HUMAN E69V Disease CD2A1_HUMAN A68T Disease CD2A1_HUMAN L94Q Disease CD2A1_HUMAN H66Y Disease CD2A1_HUMAN H123Q Disease CD2A1_HUMAN A57V Disease CD2A1_HUMAN G122S Disease CD2A1_HUMAN R24C Disease CD2A1_HUMAN Q50R Disease CD2A1_HUMAN P81L Disease CD2A1_HUMAN R107H Polymorphism CD2A1_HUMAN G89S Disease CD2A1_HUMAN A118T Disease CD2A1_HUMAN E69K Disease CD2A1_HUMAN G89D Disease CD2A1_HUMAN R24P Disease CD2A1_HUMAN A68L Disease CD2A1_HUMAN A20S Disease CD2A1_HUMAN H83Y Disease CD2A1_HUMAN H142Y Disease CD2A1_HUMAN A134V Disease CD2A1_HUMAN R144C Disease CD2A1_HUMAN D84E Disease CD2A1_HUMAN E120K Disease CD2A1_HUMAN R80L Disease CD2A1_HUMAN D108H Disease CD2A1_HUMAN A148T Polymorphism CD2A1_HUMAN N71S Polymorphism CD2A1_HUMAN G35A Disease CD2A1_HUMAN G23D Disease CD2A1_HUMAN L16P Disease CD2A1_HUMAN R124H Disease CD2A1_HUMAN L32P Disease CD2A1_HUMAN V59G Disease CD2A1_HUMAN V126D Disease CD2A1_HUMAN C72G Disease CD2A1_HUMAN E119Q Disease CD2A1_HUMAN A60T Polymorphism CD2A1_HUMAN L117M Disease CD2A1_HUMAN G150V Disease CD2A1_HUMAN D84Y Disease CD2A1_HUMAN R99P Disease CD2A1_HUMAN E120A Disease CD2A1_HUMAN A68V Polymorphism CD2A1_HUMAN G101W Disease CD2A1_HUMAN A20P Disease CD2A1_HUMAN T93A Disease CD2A1_HUMAN D84N Disease CD2A1_HUMAN A100P Polymorphism CD2A1_HUMAN D84H Disease CD2A1_HUMAN L97R Polymorphism CD2A1_HUMAN R99Q Disease CD2A1_HUMAN G35E Disease CD2A1_HUMAN S56I Polymorphism CD2A1_HUMAN N71K Disease LMAN1_HUMAN M410L Polymorphism LMAN1_HUMAN V39A Polymorphism LMAN1_HUMAN R14Q Polymorphism SALL3_HUMAN V593L Polymorphism ST1B1_HUMAN L145V Polymorphism IF2G_HUMAN K124R Polymorphism K1C10_HUMAN Y160N Disease K1C10_HUMAN R156C Disease K1C10_HUMAN N154H Disease K1C10_HUMAN I446T Disease K1C10_HUMAN L161S Disease K1C10_HUMAN Y160D Disease K1C10_HUMAN K439E Disease K1C10_HUMAN M150T Disease K1C10_HUMAN R156H Disease K1C10_HUMAN M150R Disease K1C10_HUMAN G126S Polymorphism K1C10_HUMAN R156S Disease K1C10_HUMAN L442Q Disease K1C10_HUMAN R156P Disease K1C10_HUMAN Y160S Disease MCM6_HUMAN E35V Polymorphism MCM6_HUMAN E806K Polymorphism ANF_HUMAN V32M Polymorphism PEX3_HUMAN G138E Disease EM55_HUMAN E448Q Polymorphism MMP7_HUMAN R77H Polymorphism MMP7_HUMAN P241L Polymorphism MMP7_HUMAN G137D Polymorphism ATP4A_HUMAN A264V Polymorphism DUS6_HUMAN L114V Polymorphism TGFR1_HUMAN R487P Disease TGFR1_HUMAN M318R Disease TGFR1_HUMAN D400G Disease TGFR1_HUMAN T200I Disease PCSK9_HUMAN A53V Polymorphism PCSK9_HUMAN F216L Disease PCSK9_HUMAN A443T Polymorphism PCSK9_HUMAN S127R Disease PCSK9_HUMAN E670G Polymorphism PCSK9_HUMAN I474V Polymorphism PCSK9_HUMAN N425S Polymorphism PCSK9_HUMAN R46L Polymorphism PCSK9_HUMAN Q619P Polymorphism PCSK9_HUMAN H553R Polymorphism SVIL_HUMAN A189V Polymorphism SVIL_HUMAN A1235P Polymorphism GALP_HUMAN I72M Polymorphism CPNE5_HUMAN R582H Polymorphism CPNE5_HUMAN N33S Polymorphism DYRK4_HUMAN N189S Polymorphism DYRK4_HUMAN V95I Polymorphism DYRK4_HUMAN D454V Polymorphism GOGB1_HUMAN Y1212C Polymorphism GOGB1_HUMAN T911S Polymorphism SC5A1_HUMAN A468V Disease SC5A1_HUMAN D28N Disease SC5A1_HUMAN G318R Disease SC5A1_HUMAN D28G Disease SC5A1_HUMAN R135W Disease CP4AB_HUMAN F434S Polymorphism WNK1_HUMAN T665I Polymorphism MC5R_HUMAN F209L Polymorphism CV003_HUMAN T86M Polymorphism CO8A_HUMAN Q93K Polymorphism CO8A_HUMAN T407I Polymorphism CO8A_HUMAN R485L Polymorphism CO8A_HUMAN E561Q Polymorphism PAX3_HUMAN R270C Disease PAX3_HUMAN N47K Disease PAX3_HUMAN N47H Disease PAX3_HUMAN I59N Disease PAX3_HUMAN I59F Disease PAX3_HUMAN F45L Disease PAX3_HUMAN G81A Disease PAX3_HUMAN T315K Polymorphism PAX3_HUMAN R56L Disease PAX3_HUMAN G99D Disease PAX3_HUMAN V78M Disease PAX3_HUMAN P50L Disease PAX3_HUMAN R271G Disease PAX3_HUMAN Q391H Disease PAX3_HUMAN R271C Disease PAX3_HUMAN G48R Disease PAX3_HUMAN R271H Disease PAX3_HUMAN V60M Disease PAX3_HUMAN M62V Disease PAX3_HUMAN F238S Disease PAX3_HUMAN V265F Disease PAX3_HUMAN S73L Disease PAX3_HUMAN S84F Disease PAX3_HUMAN W266C Disease PAX3_HUMAN K85E Disease PAX3_HUMAN Y90H Disease NEIL2_HUMAN P303T Polymorphism NEIL2_HUMAN T69S Polymorphism NEIL2_HUMAN R102Q Polymorphism NEIL2_HUMAN R102W Polymorphism NEIL2_HUMAN R256L Polymorphism ARFG1_HUMAN V184M Polymorphism AT2A2_HUMAN P975R Disease AT2A2_HUMAN N39T Disease AT2A2_HUMAN K683E Disease AT2A2_HUMAN S495F Disease AT2A2_HUMAN E412G Disease AT2A2_HUMAN C268F Disease AT2A2_HUMAN N767S Disease AT2A2_HUMAN S920Y Disease AT2A2_HUMAN A838P Disease AT2A2_HUMAN H943R Disease AT2A2_HUMAN G211D Disease AT2A2_HUMAN G310V Disease AT2A2_HUMAN F675S Disease AT2A2_HUMAN C560R Disease AT2A2_HUMAN A803T Disease AT2A2_HUMAN P160L Disease AT2A2_HUMAN I348T Disease AT2A2_HUMAN C875G Disease AT2A2_HUMAN G769R Disease AT2A2_HUMAN G23E Disease AT2A2_HUMAN S186P Disease AT2A2_HUMAN D702N Disease AT2A2_HUMAN R131Q Disease AT2A2_HUMAN L65S Disease AT2A2_HUMAN A745D Disease AT2A2_HUMAN T357K Disease AT2A2_HUMAN V843F Disease AT2A2_HUMAN P602L Disease AT2A2_HUMAN V223M Disease AT2A2_HUMAN C318R Disease AT2A2_HUMAN G749R Disease AT2A2_HUMAN S765L Disease CHFR_HUMAN A497V Polymorphism CHFR_HUMAN G270R Polymorphism CHFR_HUMAN V580M Polymorphism RET_HUMAN Y791F Disease RET_HUMAN R313Q Disease RET_HUMAN S891A Disease RET_HUMAN P20L Disease RET_HUMAN R972G Disease RET_HUMAN C157Y Disease RET_HUMAN F393L Disease RET_HUMAN C620R Disease RET_HUMAN C620S Disease RET_HUMAN C620W Disease RET_HUMAN C620Y Disease RET_HUMAN S32L Disease RET_HUMAN Q626K Disease RET_HUMAN D489N Polymorphism RET_HUMAN C620F Disease RET_HUMAN C620G Disease RET_HUMAN F174S Disease RET_HUMAN T946M Disease RET_HUMAN E768D Disease RET_HUMAN N394K Disease RET_HUMAN R180P Disease RET_HUMAN R813Q Disease RET_HUMAN R873Q Disease RET_HUMAN R897Q Disease RET_HUMAN V804M Disease RET_HUMAN V804L Disease RET_HUMAN C609Y Disease RET_HUMAN C609W Disease RET_HUMAN C609R Disease RET_HUMAN A640G Disease RET_HUMAN R844L Disease RET_HUMAN C609G Disease RET_HUMAN K907E Disease RET_HUMAN P1039L Disease RET_HUMAN S690P Disease RET_HUMAN G93S Disease RET_HUMAN S765P Disease RET_HUMAN A883F Disease RET_HUMAN R114H Disease RET_HUMAN C630F Disease RET_HUMAN A432E Disease RET_HUMAN C630Y Disease RET_HUMAN L790F Disease RET_HUMAN C630S Disease RET_HUMAN R77C Disease RET_HUMAN R67H Disease RET_HUMAN A641G Disease RET_HUMAN M1064T Disease RET_HUMAN D631G Disease RET_HUMAN R600Q Polymorphism RET_HUMAN A639G Disease RET_HUMAN L1061P Disease RET_HUMAN R360W Disease RET_HUMAN P1039Q Polymorphism RET_HUMAN C197Y Disease RET_HUMAN R330Q Disease RET_HUMAN M980T Disease RET_HUMAN G691S Polymorphism RET_HUMAN R475Q Disease RET_HUMAN P973L Disease RET_HUMAN S922F Disease RET_HUMAN S922Y Polymorphism RET_HUMAN C618Y Disease RET_HUMAN S767R Disease RET_HUMAN N359K Disease RET_HUMAN C142S Disease RET_HUMAN E251K Disease RET_HUMAN P399L Disease RET_HUMAN C611S Disease RET_HUMAN P64L Disease RET_HUMAN E921K Disease RET_HUMAN L40P Disease RET_HUMAN M918T Disease RET_HUMAN C618S Disease RET_HUMAN C618R Disease RET_HUMAN C634Y Disease RET_HUMAN C634W Disease RET_HUMAN C634S Disease RET_HUMAN C634R Disease RET_HUMAN R287Q Disease RET_HUMAN C618G Disease RET_HUMAN C618F Disease RET_HUMAN C634G Disease RET_HUMAN C634F Disease RET_HUMAN R982C Polymorphism RET_HUMAN C611Y Disease RET_HUMAN C611R Disease RET_HUMAN R231H Disease RET_HUMAN E762Q Disease RET_HUMAN C611W Disease RET_HUMAN F893L Disease RET_HUMAN C611G Disease TYRO_HUMAN A416S Disease TYRO_HUMAN A206T Disease TYRO_HUMAN A355E Disease TYRO_HUMAN P406L Disease TYRO_HUMAN C36Y Disease TYRO_HUMAN V427G Disease TYRO_HUMAN A355P Disease TYRO_HUMAN E328Q Disease TYRO_HUMAN S79L Disease TYRO_HUMAN D199N Disease TYRO_HUMAN N371T Disease TYRO_HUMAN M179L Disease TYRO_HUMAN D42G Disease TYRO_HUMAN N371Y Disease TYRO_HUMAN R308T Polymorphism TYRO_HUMAN C89R Disease TYRO_HUMAN D383N Disease TYRO_HUMAN Q408H Disease TYRO_HUMAN E398V Disease TYRO_HUMAN G109R Disease TYRO_HUMAN H19Q Disease TYRO_HUMAN P205T Disease TYRO_HUMAN Q378K Disease TYRO_HUMAN E345G Disease TYRO_HUMAN T155S Disease TYRO_HUMAN S424F Disease TYRO_HUMAN R299S Disease TYRO_HUMAN S192Y Polymorphism TYRO_HUMAN S339G Disease TYRO_HUMAN R299H Disease TYRO_HUMAN R77Q Disease TYRO_HUMAN M426K Disease TYRO_HUMAN S361R Disease TYRO_HUMAN P417H Disease TYRO_HUMAN R77W Disease TYRO_HUMAN D240V Disease TYRO_HUMAN A201S Disease TYRO_HUMAN P152S Disease TYRO_HUMAN N435D Disease TYRO_HUMAN W400L Disease TYRO_HUMAN K243T Disease TYRO_HUMAN G47V Disease TYRO_HUMAN E409D Disease TYRO_HUMAN P21S Disease TYRO_HUMAN H404N Disease TYRO_HUMAN G47D Disease TYRO_HUMAN W80R Disease TYRO_HUMAN H390D Disease TYRO_HUMAN R405L Disease TYRO_HUMAN G253R Disease TYRO_HUMAN N382K Disease TYRO_HUMAN S380P Disease TYRO_HUMAN H256Y Disease TYRO_HUMAN V318E Disease TYRO_HUMAN R402Q Polymorphism TYRO_HUMAN R402G Disease TYRO_HUMAN P81L Disease TYRO_HUMAN R402L Disease TYRO_HUMAN T325A Disease TYRO_HUMAN F439V Disease TYRO_HUMAN R217G Disease TYRO_HUMAN V275F Disease TYRO_HUMAN L216M Disease TYRO_HUMAN D448N Disease TYRO_HUMAN R217W Disease TYRO_HUMAN R217Q Disease TYRO_HUMAN R217S Disease TYRO_HUMAN G446S Disease TYRO_HUMAN M370T Disease TYRO_HUMAN P431L Disease TYRO_HUMAN T373K Disease TYRO_HUMAN W236S Disease TYRO_HUMAN M332T Disease TYRO_HUMAN R434I Disease TYRO_HUMAN G97R Disease TYRO_HUMAN L288S Disease TYRO_HUMAN W236L Disease TYRO_HUMAN E398A Disease TYRO_HUMAN C55Y Disease TYRO_HUMAN H180N Disease TYRO_HUMAN D444G Disease TYRO_HUMAN C289G Disease TYRO_HUMAN C289R Disease TYRO_HUMAN R422Q Disease TYRO_HUMAN G419R Disease TYRO_HUMAN F176I Disease TYRO_HUMAN W272C Disease TYRO_HUMAN S395N Disease TYRO_HUMAN S329P Disease TYRO_HUMAN S395R Disease TYRO_HUMAN E294G Disease TYRO_HUMAN V393F Disease TYRO_HUMAN R239W Disease TYRO_HUMAN R403S Disease TYRO_HUMAN Q68H Disease TYRO_HUMAN G346E Disease TYRO_HUMAN S44R Disease TYRO_HUMAN V177F Disease TYRO_HUMAN S44G Disease MUTYH_HUMAN G500E Polymorphism MUTYH_HUMAN R531Q Polymorphism MUTYH_HUMAN L526M Polymorphism MUTYH_HUMAN G393D Disease MUTYH_HUMAN V22M Polymorphism MUTYH_HUMAN Y176C Disease MUTYH_HUMAN Q335H Polymorphism CAC1C_HUMAN A2169T Polymorphism CAC1C_HUMAN A752T Polymorphism UBE3A_HUMAN A201T Polymorphism UBE3A_HUMAN R62H Polymorphism UBE3A_HUMAN C44Y Polymorphism UBE3A_HUMAN S372P Polymorphism UBE3A_HUMAN G290V Polymorphism FANCF_HUMAN P320L Polymorphism HXD3_HUMAN S113C Polymorphism EMD_HUMAN Q133H Disease EMD_HUMAN S54F Disease EMD_HUMAN P183H Disease EMD_HUMAN P183T Disease GEMI6_HUMAN G140D Polymorphism NKX28_HUMAN G16A Polymorphism LAMA2_HUMAN C862R Disease LAMA2_HUMAN E2614K Polymorphism LAMA2_HUMAN R919L Polymorphism LAMA2_HUMAN L2564P Disease LAMA2_HUMAN R619H Polymorphism LAMA2_HUMAN L545Q Polymorphism LAMA2_HUMAN C527Y Disease LAMA2_HUMAN Y2586H Polymorphism S35B2_HUMAN L342V Polymorphism RCN1_HUMAN R188P Polymorphism RCN1_HUMAN Q74E Polymorphism RCN1_HUMAN T71N Polymorphism RCN1_HUMAN D73Y Polymorphism GIPR_HUMAN A207V Polymorphism GIPR_HUMAN E354Q Polymorphism GIPR_HUMAN L262V Polymorphism GHRHR_HUMAN A176V Disease GHRHR_HUMAN L144H Disease GHRHR_HUMAN A222E Disease GHRHR_HUMAN F242C Disease GHRHR_HUMAN K329E Disease RN5A_HUMAN D541E Polymorphism RN5A_HUMAN R462Q Polymorphism RN5A_HUMAN G59S Polymorphism RN5A_HUMAN S406F Polymorphism XAB2_HUMAN V126I Polymorphism XAB2_HUMAN A702T Polymorphism XAB2_HUMAN R454Q Polymorphism UCHL5_HUMAN F197I Polymorphism PLS3_HUMAN I293V Polymorphism CHK1_HUMAN R156Q Polymorphism S17A5_HUMAN H183R Disease S17A5_HUMAN P334R Disease S17A5_HUMAN K136E Disease S17A5_HUMAN R39C Disease S17A5_HUMAN G371V Disease NKG2E_HUMAN P19R Polymorphism NKG2E_HUMAN R135S Polymorphism NKG2C_HUMAN S2N Polymorphism NKG2C_HUMAN S102F Polymorphism CEAM3_HUMAN S7P Polymorphism MMP12_HUMAN N357S Polymorphism MMP12_HUMAN G469R Polymorphism MMSA_HUMAN G446R Disease PSMF1_HUMAN H174R Polymorphism TTLL4_HUMAN R418H Polymorphism RL10_HUMAN S201N Polymorphism TAF5_HUMAN S130A Polymorphism LIPH_HUMAN V95M Polymorphism LIPH_HUMAN N215S Polymorphism LIPH_HUMAN T405M Disease LIPH_HUMAN S440N Polymorphism LIPH_HUMAN L356F Polymorphism LIPH_HUMAN D70S Polymorphism LIPH_HUMAN S289F Disease LIPH_HUMAN D409A Polymorphism LIPH_HUMAN V342I Polymorphism KAZD1_HUMAN C76G Polymorphism TA2R7_HUMAN T263S Polymorphism MCL1_HUMAN E173D Polymorphism MCL1_HUMAN A227V Polymorphism DHRSX_HUMAN E297K Polymorphism ZBTB4_HUMAN M550I Polymorphism MCCA_HUMAN P464H Polymorphism MCCA_HUMAN R385S Disease MCCA_HUMAN M325R Disease MCCA_HUMAN D532H Disease MCCA_HUMAN L437P Disease MCCA_HUMAN S535F Disease MCCA_HUMAN A289V Disease KRHB2_HUMAN M458T Polymorphism MLC1_HUMAN G211R Disease MLC1_HUMAN T117R Disease MLC1_HUMAN P91S Disease MLC1_HUMAN N140S Disease MLC1_HUMAN N140K Disease MLC1_HUMAN G58E Disease MLC1_HUMAN S279L Disease MLC1_HUMAN L308M Disease MLC1_HUMAN S92L Disease CN153_HUMAN A14P Polymorphism GLYC_HUMAN L474F Polymorphism MCM5_HUMAN T180S Polymorphism MCM5_HUMAN S136T Polymorphism MCM5_HUMAN V258I Polymorphism S25BP_HUMAN S112C Polymorphism WDR4_HUMAN K71N Polymorphism GNL3_HUMAN M367V Polymorphism GNL3_HUMAN Q39R Polymorphism ATPF2_HUMAN W94G Disease HLXB9_HUMAN Q292P Disease HLXB9_HUMAN W290L Disease HLXB9_HUMAN R295Q Disease HLXB9_HUMAN R295W Disease HLXB9_HUMAN W290G Disease HLXB9_HUMAN T248S Disease HLXB9_HUMAN R294W Disease HLXB9_HUMAN R247H Disease HLXB9_HUMAN R247G Disease HMOX2_HUMAN P146L Polymorphism HMOX2_HUMAN R137Q Polymorphism ERCC4_HUMAN E864G Polymorphism ERCC4_HUMAN I862V Polymorphism ERCC4_HUMAN G692D Polymorphism ERCC4_HUMAN R565T Polymorphism ERCC4_HUMAN I518T Disease ERCC4_HUMAN G901E Polymorphism ERCC4_HUMAN L597P Disease ERCC4_HUMAN I706T Polymorphism ERCC4_HUMAN T556A Disease ERCC4_HUMAN G502R Disease ERCC4_HUMAN I214M Disease ERCC4_HUMAN A157V Polymorphism ERCC4_HUMAN E491K Disease ERCC4_HUMAN R404Q Polymorphism ERCC4_HUMAN R788W Disease ERCC4_HUMAN P368S Polymorphism ERCC4_HUMAN R443W Disease ERCC4_HUMAN I695T Polymorphism ERCC4_HUMAN R479Q Disease ERCC4_HUMAN S651P Polymorphism MUC5B_HUMAN T5137S Polymorphism JAD1C_HUMAN D402Y Disease JAD1C_HUMAN E698K Disease JAD1C_HUMAN A388P Disease JAD1C_HUMAN L731F Disease SYNE1_HUMAN A8323G Polymorphism CCHCR_HUMAN R417Q Polymorphism CCHCR_HUMAN R102Q Polymorphism CCHCR_HUMAN R417W Polymorphism CCHCR_HUMAN S776C Polymorphism CCHCR_HUMAN R103W Polymorphism CCHCR_HUMAN A733V Polymorphism CCHCR_HUMAN Q639H Polymorphism CCHCR_HUMAN L179Q Polymorphism CCHCR_HUMAN S164R Polymorphism CCHCR_HUMAN R109W Polymorphism CCHCR_HUMAN E275D Polymorphism CCHCR_HUMAN G575C Polymorphism CCHCR_HUMAN R627Q Polymorphism CCHCR_HUMAN K546R Polymorphism CCHCR_HUMAN A367T Polymorphism SCOT_HUMAN T58M Polymorphism SCOT_HUMAN V133E Disease SCOT_HUMAN V221M Disease SCOT_HUMAN C456F Disease SCOT_HUMAN G324E Disease SCOT_HUMAN G219E Disease DAZL_HUMAN T54A Disease DAZL_HUMAN T12A Polymorphism SCN3A_HUMAN S606T Polymorphism CR014_HUMAN A429P Polymorphism CR014_HUMAN C346F Polymorphism NTRK1_HUMAN D674Y Disease NTRK1_HUMAN G613V Polymorphism NTRK1_HUMAN L213P Disease NTRK1_HUMAN M587V Disease NTRK1_HUMAN G714S Disease NTRK1_HUMAN G577R Disease NTRK1_HUMAN R85S Polymorphism NTRK1_HUMAN R654C Disease NTRK1_HUMAN H604Y Polymorphism NTRK1_HUMAN P695L Disease NTRK1_HUMAN R780P Disease NTRK1_HUMAN R780Q Polymorphism NTRK1_HUMAN L93P Disease NTRK1_HUMAN G522R Disease NTRK1_HUMAN R649W Disease FABPL_HUMAN A54T Polymorphism FABPL_HUMAN T94A Polymorphism AT2A1_HUMAN P789L Disease FHL5_HUMAN V211M Polymorphism NT3_HUMAN G76E Polymorphism PRELP_HUMAN N348H Polymorphism TF2H1_HUMAN L517V Polymorphism TF2H1_HUMAN R234W Polymorphism TF2H1_HUMAN S285F Polymorphism GDF15_HUMAN T48S Polymorphism MYH9_HUMAN A94T Disease MYH9_HUMAN R1164L Disease MYH9_HUMAN I1625V Polymorphism MYH9_HUMAN D1423H Disease MYH9_HUMAN R704H Disease MYH9_HUMAN R1164C Disease MYH9_HUMAN D1423N Disease MYH9_HUMAN S1113P Disease MYH9_HUMAN R701H Disease MYH9_HUMAN S95L Disease MYH9_HUMAN K372N Disease MYH9_HUMAN D1423Y Disease MYH9_HUMAN N92K Disease MYH9_HUMAN T1154I Disease MYH9_HUMAN R701C Disease MYH9_HUMAN E1840K Disease GANAB_HUMAN R173Q Polymorphism ZN230_HUMAN D441E Polymorphism LICH_HUMAN H129R Disease LICH_HUMAN H129P Disease LICH_HUMAN L200P Disease LICH_HUMAN T16P Polymorphism LAMC2_HUMAN S733T Polymorphism LAMC2_HUMAN D247E Polymorphism GBRG2_HUMAN K328M Disease GBRG2_HUMAN R82Q Disease NIN_HUMAN E1320G Polymorphism NIN_HUMAN S1837T Polymorphism NIN_HUMAN P1111A Polymorphism RAD52_HUMAN R70W Polymorphism RAD52_HUMAN Q221E Polymorphism RAD52_HUMAN S287N Polymorphism SMYD2_HUMAN G165E Polymorphism UAP1_HUMAN P418H Polymorphism CCNH_HUMAN K138R Polymorphism CCNH_HUMAN R28L Polymorphism CCNH_HUMAN V270A Polymorphism CCNH_HUMAN M54V Polymorphism GIP_HUMAN S103G Polymorphism TBL3_HUMAN S343P Polymorphism TBL3_HUMAN P336R Polymorphism GA45G_HUMAN G112S Polymorphism RHAG_HUMAN G380V Disease RHAG_HUMAN G280R Disease RHAG_HUMAN V270I Disease RHAG_HUMAN G279E Disease RHAG_HUMAN S79N Disease KRHB4_HUMAN I206V Polymorphism KRHB4_HUMAN R184Q Polymorphism KRHB4_HUMAN R446C Polymorphism PSB4_HUMAN M95I Polymorphism PSB4_HUMAN T234I Polymorphism AK1C4_HUMAN L311V Polymorphism AK1C4_HUMAN S145C Polymorphism MDR3_HUMAN E528D Polymorphism MDR3_HUMAN P1161S Disease MDR3_HUMAN T175A Disease MDR3_HUMAN L238V Polymorphism MDR3_HUMAN S320F Disease MDR3_HUMAN A546D Disease MDR3_HUMAN R652G Polymorphism ACO11_HUMAN M212I Polymorphism ACO11_HUMAN G202D Polymorphism ACO11_HUMAN P165L Polymorphism ALG12_HUMAN T67M Disease ALG12_HUMAN R146Q Disease ALG12_HUMAN F142V Disease ALG12_HUMAN L158P Disease FOG2_HUMAN E30G Disease FOG2_HUMAN E782D Polymorphism FOG2_HUMAN S657G Disease ALBU_HUMAN Q220L Polymorphism ALBU_HUMAN L90P Disease ALBU_HUMAN R242H Disease ALBU_HUMAN E420K Polymorphism ALBU_HUMAN K490E Polymorphism ALBU_HUMAN A215T Polymorphism ALBU_HUMAN F73Y Polymorphism ALBU_HUMAN A215V Polymorphism ALBU_HUMAN E121G Polymorphism ALBU_HUMAN R242P Disease SPRR3_HUMAN L149V Polymorphism TOP3A_HUMAN C596Y Polymorphism I13R2_HUMAN W111R Polymorphism PLD1_HUMAN A622S Polymorphism PLD1_HUMAN V820M Polymorphism GRIK3_HUMAN A310S Polymorphism NF1_HUMAN K1444R Disease NF1_HUMAN L920P Disease NF1_HUMAN I157N Disease NF1_HUMAN P678L Polymorphism NF1_HUMAN L1446P Disease NF1_HUMAN D338G Disease NF1_HUMAN L847P Disease NF1_HUMAN L549P Disease NF1_HUMAN K1444E Disease NF1_HUMAN I117S Disease NF1_HUMAN E2357K Disease NF1_HUMAN K1440R Disease NF1_HUMAN L695P Disease NF1_HUMAN K1440Q Disease NF1_HUMAN L2164M Disease NF1_HUMAN G2001R Disease NF1_HUMAN M968R Disease NF1_HUMAN L508P Disease NF1_HUMAN S1489G Disease NF1_HUMAN W777S Disease NF1_HUMAN K1444N Disease NF1_HUMAN K583R Disease NF1_HUMAN L844R Disease NF1_HUMAN W784R Disease NF1_HUMAN G629R Disease NF1_HUMAN Y491C Disease NF1_HUMAN D2012N Disease NF1_HUMAN I1605V Disease NF1_HUMAN A74D Disease NF1_HUMAN A1785S Disease NF1_HUMAN H781P Disease NF1_HUMAN W784C Disease NF1_HUMAN L844F Disease NF1_HUMAN L2088P Disease NF1_HUMAN L357P Disease NF1_HUMAN L578R Disease NF1_HUMAN L1953P Disease NF1_HUMAN H712R Disease NF1_HUMAN R1250P Disease NF1_HUMAN R1276Q Disease NF1_HUMAN T2631A Disease NF1_HUMAN Y2192N Disease NF1_HUMAN N1156S Disease NF1_HUMAN L763P Disease NF1_HUMAN L1147P Disease NF1_HUMAN G1166D Disease NF1_HUMAN L216P Disease NF1_HUMAN R1412S Disease NF1_HUMAN M1035R Disease NF1_HUMAN R1276P Disease NF1_HUMAN Y1422H Polymorphism NF1_HUMAN T2507I Disease NF1_HUMAN W1952R Disease NF1_HUMAN L604V Disease NF1_HUMAN D176E Disease NF1_HUMAN G848E Disease NF1_HUMAN I581T Disease NF1_HUMAN F1193C Disease NF1_HUMAN S82F Disease NF1_HUMAN L898P Disease NF1_HUMAN S665F Disease NF1_HUMAN R1204G Disease NF1_HUMAN V2511L Polymorphism NF1_HUMAN R765H Polymorphism NF1_HUMAN C93Y Disease NF1_HUMAN P2221A Disease NF1_HUMAN R1611W Disease NF1_HUMAN T780K Disease NF1_HUMAN Y80C Polymorphism NF1_HUMAN R1204W Disease PUR2_HUMAN D752G Polymorphism PUR2_HUMAN L21F Polymorphism PUR2_HUMAN V421I Polymorphism LSHR_HUMAN D564G Disease LSHR_HUMAN D578E Disease LSHR_HUMAN D578G Disease LSHR_HUMAN D578H Disease LSHR_HUMAN C543R Disease LSHR_HUMAN I575L Disease LSHR_HUMAN T577I Disease LSHR_HUMAN D578Y Disease LSHR_HUMAN M571I Disease LSHR_HUMAN C581R Disease LSHR_HUMAN I625K Disease LSHR_HUMAN A593P Disease LSHR_HUMAN C131R Disease LSHR_HUMAN A572V Disease LSHR_HUMAN N284S Polymorphism LSHR_HUMAN A373V Disease LSHR_HUMAN I542L Disease LSHR_HUMAN S616Y Disease LSHR_HUMAN A568V Disease LSHR_HUMAN C343S Disease LSHR_HUMAN E354K Disease LSHR_HUMAN M398T Disease LSHR_HUMAN L457R Disease LSHR_HUMAN S306N Polymorphism SFTPD_HUMAN E309K Polymorphism SFTPD_HUMAN L123V Polymorphism SFTPD_HUMAN M31T Polymorphism SFTPD_HUMAN A180T Polymorphism SFTPD_HUMAN S290T Polymorphism MLH3_HUMAN Y720C Polymorphism MLH3_HUMAN T606P Polymorphism MLH3_HUMAN G1319R Polymorphism MLH3_HUMAN K231Q Polymorphism MLH3_HUMAN T942I Polymorphism MLH3_HUMAN R797H Polymorphism MLH3_HUMAN L492V Polymorphism MLH3_HUMAN S966P Polymorphism MLH3_HUMAN V420I Polymorphism MLH3_HUMAN G1163D Polymorphism MLH3_HUMAN V723I Polymorphism MLH3_HUMAN S845G Polymorphism MLH3_HUMAN V741F Polymorphism MLH3_HUMAN R600Q Polymorphism MLH3_HUMAN F120S Polymorphism MLH3_HUMAN D1073N Polymorphism MLH3_HUMAN R93G Polymorphism MLH3_HUMAN D1105E Polymorphism MLH3_HUMAN P844L Polymorphism MLH3_HUMAN H494R Polymorphism TN13B_HUMAN A105T Polymorphism C4BB_HUMAN P198S Polymorphism COMT_HUMAN A102T Polymorphism COMT_HUMAN A146V Polymorphism COMT_HUMAN V158M Polymorphism COMT_HUMAN A72S Polymorphism COMT_HUMAN C34S Polymorphism TLR1_HUMAN H118Y Polymorphism ITB3_HUMAN S188L Disease ITB3_HUMAN L143W Disease ITB3_HUMAN D145Y Disease ITB3_HUMAN L59P Polymorphism ITB3_HUMAN G605S Disease ITB3_HUMAN C568R Disease ITB3_HUMAN V453I Polymorphism ITB3_HUMAN G598S Disease ITB3_HUMAN C400Y Disease ITB3_HUMAN C586F Disease ITB3_HUMAN S778P Disease ITB3_HUMAN R169Q Polymorphism ITB3_HUMAN H306P Disease ITB3_HUMAN R240Q Disease ITB3_HUMAN R240W Disease GCYB2_HUMAN N316H Polymorphism FLNC_HUMAN S2626N Polymorphism FLNC_HUMAN K2135R Polymorphism FLNC_HUMAN A1599T Polymorphism FLNC_HUMAN R1567Q Polymorphism FLNC_HUMAN K2637Q Polymorphism FLNC_HUMAN P2203R Polymorphism FLNC_HUMAN G1580D Polymorphism IL2RB_HUMAN S83F Polymorphism IL2RB_HUMAN D391E Polymorphism PRD15_HUMAN T1376S Polymorphism PRD15_HUMAN S1481P Polymorphism PRD15_HUMAN V1342I Polymorphism GCC1_HUMAN C87W Polymorphism GCC1_HUMAN R86W Polymorphism RND1_HUMAN P44R Polymorphism FBLN1_HUMAN R141Q Polymorphism FBLN1_HUMAN R695H Polymorphism I22RA_HUMAN E190K Polymorphism I22RA_HUMAN L16P Polymorphism CH3L1_HUMAN R145G Polymorphism CH3L1_HUMAN T311I Polymorphism UN93A_HUMAN Y387H Polymorphism UN93A_HUMAN M403T Polymorphism UN93A_HUMAN V292I Polymorphism UN93A_HUMAN V445A Polymorphism UN93A_HUMAN V409I Polymorphism MYG_HUMAN E54K Polymorphism MYG_HUMAN R139W Polymorphism MYG_HUMAN K133N Polymorphism MYG_HUMAN R139Q Polymorphism NUHM_HUMAN V29A Polymorphism PIT1_HUMAN W193R Disease PIT1_HUMAN Q4R Polymorphism PIT1_HUMAN A158P Disease PIT1_HUMAN P239S Disease PIT1_HUMAN D227Y Polymorphism PIT1_HUMAN R271W Disease PIT1_HUMAN F135C Disease PIT1_HUMAN R143Q Disease PIT1_HUMAN E174G Disease PIT1_HUMAN P24L Disease SGT1_HUMAN R281G Polymorphism IL3RA_HUMAN V323L Polymorphism IL3RA_HUMAN A12T Polymorphism IL3RA_HUMAN E77G Polymorphism IL3RA_HUMAN S123T Polymorphism PACA_HUMAN D54G Polymorphism MNDA_HUMAN V286L Polymorphism MNDA_HUMAN H357Y Polymorphism AGTR1_HUMAN T336P Polymorphism AGTR1_HUMAN L48V Polymorphism AGTR1_HUMAN C289W Polymorphism NCF2_HUMAN R328K Polymorphism NCF2_HUMAN R77Q Disease NCF2_HUMAN K181R Polymorphism NCF2_HUMAN A128V Disease NCF2_HUMAN R395W Disease NCF2_HUMAN G78E Disease SNPC2_HUMAN L118V Polymorphism TXLNG_HUMAN I246V Polymorphism MSH3_HUMAN T1045A Polymorphism MSH3_HUMAN R949Q Polymorphism MSH3_HUMAN T1054A Polymorphism MSH3_HUMAN F709L Polymorphism MSH3_HUMAN V79I Polymorphism CUL4A_HUMAN K544R Polymorphism RAD18_HUMAN E6A Polymorphism RAD18_HUMAN I307V Polymorphism RAD18_HUMAN Q302R Polymorphism SPESP_HUMAN E191G Polymorphism HIS3_HUMAN R41Q Polymorphism CT081_HUMAN Q22H Polymorphism RHG26_HUMAN N417S Disease PEX26_HUMAN G89R Disease PEX26_HUMAN L45P Disease PEX26_HUMAN R98W Disease REXO4_HUMAN R141K Polymorphism REXO4_HUMAN T283A Polymorphism SQRD_HUMAN I264T Polymorphism GHR_HUMAN E62K Disease GHR_HUMAN R179H Polymorphism GHR_HUMAN P495T Polymorphism GHR_HUMAN S58L Disease GHR_HUMAN P579T Polymorphism GHR_HUMAN R179C Disease GHR_HUMAN Y226C Disease GHR_HUMAN C440F Disease GHR_HUMAN S244I Disease GHR_HUMAN I171T Disease GHR_HUMAN E242D Disease GHR_HUMAN V162I Disease GHR_HUMAN Q172P Disease GHR_HUMAN V162D Disease GHR_HUMAN V162F Polymorphism GHR_HUMAN P149Q Disease GHR_HUMAN R229H Disease GHR_HUMAN D262N Disease GHR_HUMAN R229G Disease GHR_HUMAN C56S Disease GHR_HUMAN V143A Disease GHR_HUMAN D170H Disease GHR_HUMAN F114S Disease GHR_HUMAN I544L Polymorphism GHR_HUMAN V173G Disease GHR_HUMAN W68R Disease GHR_HUMAN R89K Disease CF141_HUMAN E137Q Polymorphism DKC1_HUMAN A1V Disease DKC1_HUMAN A352V Disease DKC1_HUMAN L71Y Disease DKC1_HUMAN P39R Disease DKC1_HUMAN S120G Disease DKC1_HUMAN E40K Disease DKC1_HUMAN K38E Disease DKC1_HUMAN L320V Disease DKC1_HUMAN G401R Disease DKC1_HUMAN F35V Disease DKC1_HUMAN M349T Disease DKC1_HUMAN G222D Polymorphism DKC1_HUMAN T48M Disease DKC1_HUMAN G401E Disease DKC1_HUMAN T65A Disease DKC1_HUMAN R64T Disease DKC1_HUMAN M349I Disease DKC1_HUMAN I37T Disease SSR4_HUMAN N83T Polymorphism SSR4_HUMAN S321F Polymorphism SSR4_HUMAN V284F Polymorphism O10H3_HUMAN S293N Polymorphism O10H3_HUMAN V224M Polymorphism ZN234_HUMAN V16I Polymorphism CF010_HUMAN S170P Polymorphism CF010_HUMAN K400Q Polymorphism CF010_HUMAN P128L Polymorphism CF010_HUMAN Y69C Polymorphism CF010_HUMAN I150F Polymorphism CF010_HUMAN Y36H Polymorphism CF010_HUMAN I315V Polymorphism CF010_HUMAN R30C Polymorphism CF010_HUMAN S227P Polymorphism BPL1_HUMAN T462I Disease BPL1_HUMAN G582R Disease BPL1_HUMAN D571N Disease BPL1_HUMAN V550M Disease BPL1_HUMAN R508W Disease BPL1_HUMAN N511K Disease BPL1_HUMAN L237P Disease BPL1_HUMAN V333E Disease BPL1_HUMAN L216R Disease BPL1_HUMAN G581S Disease TACD2_HUMAN D173A Polymorphism TACD2_HUMAN E216D Polymorphism NU6M_HUMAN V31A Polymorphism NU6M_HUMAN I58V Polymorphism NU6M_HUMAN L60S Disease NU6M_HUMAN M64V Disease NU6M_HUMAN A74V Disease NU6M_HUMAN I26M Disease NU6M_HUMAN A72V Disease NU6M_HUMAN I33V Polymorphism NU6M_HUMAN Y59C Disease NU6M_HUMAN M64I Disease NU6M_HUMAN Y165C Polymorphism NU6M_HUMAN G36S Disease PS1C1_HUMAN P133L Polymorphism PS1C1_HUMAN K34Q Polymorphism PS1C1_HUMAN R37H Polymorphism PS1C1_HUMAN P24T Polymorphism TF2H4_HUMAN R337Q Polymorphism SPON2_HUMAN E122A Polymorphism SPON2_HUMAN L242V Polymorphism SPON2_HUMAN P40L Polymorphism PANK2_HUMAN T528M Disease PANK2_HUMAN G521R Disease PANK2_HUMAN L413P Disease PANK2_HUMAN L282V Disease PANK2_HUMAN S471N Disease PANK2_HUMAN N500I Disease PANK2_HUMAN A126G Polymorphism PANK2_HUMAN G219V Disease PANK2_HUMAN S351P Disease PANK2_HUMAN R278C Disease PANK2_HUMAN I497T Disease PANK2_HUMAN T327I Disease PANK2_HUMAN R286C Disease PANK2_HUMAN T234A Disease PANK2_HUMAN N355S Disease PANK2_HUMAN R264W Disease PANK2_HUMAN N404I Disease PANK2_HUMAN L111Q Polymorphism NUAM_HUMAN F649V Polymorphism NEIL1_HUMAN D251N Polymorphism IGF2_HUMAN K120N Polymorphism IGF2_HUMAN K180N Polymorphism IGF2_HUMAN P173Q Polymorphism RNPC2_HUMAN A2V Polymorphism APOB_HUMAN T3945A Polymorphism APOB_HUMAN R4270T Polymorphism APOB_HUMAN A618V Polymorphism APOB_HUMAN P2739L Polymorphism APOB_HUMAN F3964Y Polymorphism APOB_HUMAN V730I Polymorphism APOB_HUMAN K3427T Polymorphism APOB_HUMAN A3121T Polymorphism APOB_HUMAN E1218Q Polymorphism APOB_HUMAN Q2680L Polymorphism APOB_HUMAN A2456D Polymorphism APOB_HUMAN T741N Polymorphism APOB_HUMAN A4481T Polymorphism APOB_HUMAN N273K Polymorphism APOB_HUMAN P145S Polymorphism APOB_HUMAN R1128H Polymorphism APOB_HUMAN P554L Polymorphism APOB_HUMAN V3921I Polymorphism APOB_HUMAN N4338S Polymorphism APOB_HUMAN R3527Q Disease APOB_HUMAN R490W Disease APOB_HUMAN V4128M Polymorphism APOB_HUMAN T2365A Polymorphism APOB_HUMAN T4484M Polymorphism APOB_HUMAN R3638Q Polymorphism APOB_HUMAN E3432Q Polymorphism APOB_HUMAN N1914S Polymorphism APOB_HUMAN H1923R Polymorphism APOB_HUMAN F1437L Polymorphism APOB_HUMAN S3294P Polymorphism APOB_HUMAN N2785H Polymorphism APOB_HUMAN V2092L Polymorphism APOB_HUMAN H3319D Polymorphism APOB_HUMAN T3732I Polymorphism APOB_HUMAN V733I Polymorphism APOB_HUMAN L3949F Polymorphism APOB_HUMAN T98I Polymorphism APOB_HUMAN Y103H Polymorphism APOB_HUMAN K4181E Polymorphism APOB_HUMAN R3558C Disease APOB_HUMAN E2566K Polymorphism CCR2_HUMAN G355E Polymorphism CCR2_HUMAN L45V Polymorphism CCR2_HUMAN V64I Polymorphism FMO1_HUMAN K372R Polymorphism FMO1_HUMAN F326L Polymorphism FMO1_HUMAN H96Q Polymorphism FMO1_HUMAN R222Q Polymorphism FMO1_HUMAN I302V Polymorphism FMO1_HUMAN I302T Polymorphism FMO1_HUMAN R473H Polymorphism FMO1_HUMAN S226T Polymorphism FMO1_HUMAN I321V Polymorphism CCM2_HUMAN L198R Disease CCM2_HUMAN V120I Polymorphism CCM2_HUMAN V53I Polymorphism CRGD_HUMAN P23T Disease CRGD_HUMAN R14C Disease CRGD_HUMAN M101V Polymorphism CRGD_HUMAN R58H Disease CHSTC_HUMAN A145P Polymorphism CHSTC_HUMAN T61S Polymorphism CHSTC_HUMAN P52H Polymorphism CHSTC_HUMAN R109S Polymorphism MMAA_HUMAN R359Q Disease MMAA_HUMAN L89P Disease MMAA_HUMAN Y207C Disease MMAA_HUMAN R145Q Disease MMAA_HUMAN G218E Disease MMAA_HUMAN Q363H Polymorphism DPOE3_HUMAN T83A Polymorphism DPOE3_HUMAN E135D Polymorphism IL1A_HUMAN R85Q Polymorphism IL1A_HUMAN D138N Polymorphism IL1A_HUMAN A114S Polymorphism IL1A_HUMAN N125D Polymorphism IL1A_HUMAN D176H Polymorphism 2DOB_HUMAN R18Q Polymorphism 2DOB_HUMAN V244I Polymorphism 2DOB_HUMAN L234F Polymorphism NELL1_HUMAN R354W Polymorphism BID_HUMAN S10G Polymorphism CD48_HUMAN E102Q Polymorphism RYR1_HUMAN R2163P Disease RYR1_HUMAN R163C Disease RYR1_HUMAN T2206R Disease RYR1_HUMAN T2206M Disease RYR1_HUMAN R2163C Disease RYR1_HUMAN P1787L Polymorphism RYR1_HUMAN R2163H Disease RYR1_HUMAN R471C Polymorphism RYR1_HUMAN R2454H Disease RYR1_HUMAN R2454C Disease RYR1_HUMAN G341R Disease RYR1_HUMAN R552W Disease RYR1_HUMAN R2458H Disease RYR1_HUMAN I403M Disease RYR1_HUMAN C35R Disease RYR1_HUMAN R2458C Disease RYR1_HUMAN G2060C Polymorphism RYR1_HUMAN R533H Disease RYR1_HUMAN V2168M Disease RYR1_HUMAN R2435H Disease RYR1_HUMAN G248R Disease RYR1_HUMAN R2435L Disease RYR1_HUMAN Y522S Disease RYR1_HUMAN R614C Disease RYR1_HUMAN G2434R Disease RYR1_HUMAN R614L Disease RYR2_HUMAN L433P Disease RYR2_HUMAN N2386I Disease RYR2_HUMAN R4497C Disease RYR2_HUMAN Q4201R Disease RYR2_HUMAN Q2958R Polymorphism RYR2_HUMAN P2328S Disease RYR2_HUMAN R4959Q Disease RYR2_HUMAN R2474S Disease RYR2_HUMAN P4902L Disease RYR2_HUMAN V4653F Disease RYR2_HUMAN N4104K Disease RYR2_HUMAN G1886S Polymorphism RYR2_HUMAN S2246L Disease RYR2_HUMAN V2306I Disease VGFR2_HUMAN V297I Polymorphism VGFR2_HUMAN Q472H Polymorphism CD5_HUMAN P224L Polymorphism T240L_HUMAN R1872H Disease T240L_HUMAN D2023G Disease T240L_HUMAN E251G Disease FA5_HUMAN V1764M Polymorphism FA5_HUMAN H1327R Polymorphism FA5_HUMAN K925E Polymorphism FA5_HUMAN P809S Polymorphism FA5_HUMAN R534Q Polymorphism FA5_HUMAN M2148T Polymorphism FA5_HUMAN G15S Polymorphism FA5_HUMAN M1820I Polymorphism FA5_HUMAN L1749V Polymorphism FA5_HUMAN N969S Polymorphism FA5_HUMAN P1404S Polymorphism FA5_HUMAN N817T Polymorphism FA5_HUMAN E1530A Polymorphism FA5_HUMAN T915S Polymorphism FA5_HUMAN R334G Disease FA5_HUMAN H1146Q Polymorphism FA5_HUMAN M413T Polymorphism FA5_HUMAN K858R Polymorphism FA5_HUMAN R513K Polymorphism FA5_HUMAN R2102H Disease FA5_HUMAN R980L Polymorphism FA5_HUMAN D2222G Polymorphism FA5_HUMAN R334T Disease FA5_HUMAN T1685S Polymorphism FA5_HUMAN D107H Polymorphism FA5_HUMAN H865R Polymorphism FA5_HUMAN L1285I Polymorphism AF17_HUMAN A198T Polymorphism CO6_HUMAN E119A Polymorphism APLP2_HUMAN D632N Polymorphism CRGC_HUMAN T4P Disease CRGC_HUMAN R47H Polymorphism HABP2_HUMAN E393Q Polymorphism HABP2_HUMAN V90I Polymorphism HABP2_HUMAN G534E Polymorphism G3ST4_HUMAN R353Q Polymorphism ZFY16_HUMAN T192I Polymorphism ZFY16_HUMAN T598I Polymorphism ZFY16_HUMAN G1055S Polymorphism TXD11_HUMAN V783L Polymorphism ROBO1_HUMAN E1533D Disease ROBO1_HUMAN S1055N Disease SMO_HUMAN R562Q Disease SMO_HUMAN W535L Disease EFNA5_HUMAN N55K Polymorphism TF2H2_HUMAN I151M Polymorphism TF2H2_HUMAN V236L Polymorphism CXB6_HUMAN G11R Disease CXB6_HUMAN A88V Disease CXB6_HUMAN S139G Polymorphism CXB6_HUMAN V37E Disease CXB6_HUMAN T5M Disease CXB6_HUMAN S199T Polymorphism ETHE1_HUMAN T136A Disease ETHE1_HUMAN L185R Disease ETHE1_HUMAN R163W Disease ETHE1_HUMAN Y38C Disease RL8_HUMAN I97V Polymorphism NIPBL_HUMAN N674S Polymorphism NIPBL_HUMAN A2390T Disease NIPBL_HUMAN G2312R Disease NIPBL_HUMAN C1311R Disease NIPBL_HUMAN G2381A Disease NIPBL_HUMAN Y2430C Disease NIPBL_HUMAN L1348R Disease NIPBL_HUMAN I1206V Polymorphism NIPBL_HUMAN Y2440H Disease NIPBL_HUMAN L1312P Disease NIPBL_HUMAN R1856T Disease NIPBL_HUMAN R1789L Disease NIPBL_HUMAN R2298C Disease NIPBL_HUMAN S135N Polymorphism NIPBL_HUMAN A1246G Disease NIPBL_HUMAN D1803V Disease NIPBL_HUMAN R2298H Disease RHBD2_HUMAN L273M Polymorphism CNGA1_HUMAN D114N Polymorphism CNGA1_HUMAN S316F Disease CNGA1_HUMAN R28Q Polymorphism PO6F2_HUMAN Q184H Disease FANCC_HUMAN Q465R Polymorphism FANCC_HUMAN L190F Polymorphism FANCC_HUMAN S26F Polymorphism FANCC_HUMAN I312V Polymorphism FANCC_HUMAN L554P Disease FANCC_HUMAN G139E Polymorphism FANCC_HUMAN D195V Disease FANCC_HUMAN L496R Disease FANCC_HUMAN V449M Polymorphism FANCC_HUMAN I80T Polymorphism MSH2_HUMAN T8M Polymorphism MSH2_HUMAN A636P Disease MSH2_HUMAN A834T Disease MSH2_HUMAN C199R Disease MSH2_HUMAN T905R Disease MSH2_HUMAN D167H Polymorphism MSH2_HUMAN H46Q Disease MSH2_HUMAN G322D Polymorphism MSH2_HUMAN N596S Polymorphism MSH2_HUMAN G674S Disease MSH2_HUMAN S323C Disease MSH2_HUMAN I770V Polymorphism MSH2_HUMAN I216V Polymorphism MSH2_HUMAN C641G Polymorphism MSH2_HUMAN E562V Disease MSH2_HUMAN S554R Polymorphism MSH2_HUMAN I145M Polymorphism MSH2_HUMAN N139S Disease MSH2_HUMAN N127S Polymorphism MSH2_HUMAN G692R Disease MSH2_HUMAN R524P Disease MSH2_HUMAN R96H Polymorphism MSH2_HUMAN C697R Disease MSH2_HUMAN K845E Disease MSH2_HUMAN D660G Disease MSH2_HUMAN Y43C Polymorphism MSH2_HUMAN A305T Disease MSH2_HUMAN C697F Disease MSH2_HUMAN V161D Polymorphism MSH2_HUMAN V163G Disease MSH2_HUMAN H639Y Disease MSH2_HUMAN P622L Disease SPYA_HUMAN G156R Disease SPYA_HUMAN G41R Disease SPYA_HUMAN G41V Disease SPYA_HUMAN S187F Disease SPYA_HUMAN S205P Disease SPYA_HUMAN F152I Disease SPYA_HUMAN R233H Disease SPYA_HUMAN R233C Disease SPYA_HUMAN G116R Disease SPYA_HUMAN D183N Disease SPYA_HUMAN I340M Polymorphism SPYA_HUMAN P11L Polymorphism SPYA_HUMAN G170R Disease SPYA_HUMAN I244T Disease SPYA_HUMAN G82E Disease DLGP2_HUMAN P384Q Polymorphism K0830_HUMAN G446V Polymorphism K0830_HUMAN V350M Polymorphism GABPA_HUMAN E345K Polymorphism GABPA_HUMAN A291V Polymorphism SCAM3_HUMAN A235V Polymorphism SCAM3_HUMAN D242V Polymorphism SCAM3_HUMAN N239I Polymorphism SCAM3_HUMAN R38L Polymorphism AMPN_HUMAN L242P Polymorphism AMPN_HUMAN Q85R Polymorphism AMPN_HUMAN D241Y Polymorphism AMPN_HUMAN S751N Polymorphism PRI1_HUMAN D5A Polymorphism VKGC_HUMAN R485P Disease VKGC_HUMAN W501S Disease VKGC_HUMAN Q325R Polymorphism VKGC_HUMAN L394R Disease K1C19_HUMAN G60A Polymorphism NCF4_HUMAN I147L Polymorphism DUS21_HUMAN M186T Polymorphism PCD12_HUMAN H385N Polymorphism PCD12_HUMAN S640N Polymorphism MIZF_HUMAN V493A Polymorphism WDR12_HUMAN E286G Polymorphism WDR12_HUMAN M72V Polymorphism WDR12_HUMAN Y89C Polymorphism RYR3_HUMAN C693Y Polymorphism RYR3_HUMAN E1380G Polymorphism RYR3_HUMAN S261R Polymorphism RYR3_HUMAN V731I Polymorphism RYR3_HUMAN I494V Polymorphism PARP2_HUMAN D235G Polymorphism PARP2_HUMAN N168S Polymorphism PARP2_HUMAN S161N Polymorphism PARP2_HUMAN I285V Polymorphism PARP2_HUMAN R296Q Polymorphism PENK_HUMAN G247D Polymorphism PLP2_HUMAN A91S Polymorphism TNR1B_HUMAN M196R Polymorphism TNR1B_HUMAN Q295R Polymorphism TNR1B_HUMAN L264P Polymorphism TNR1B_HUMAN T269P Polymorphism TNR1B_HUMAN A236T Polymorphism TNR1B_HUMAN V187M Polymorphism TNR1B_HUMAN P301R Polymorphism TNR1B_HUMAN E232K Polymorphism ACE2_HUMAN N638S Polymorphism ACE2_HUMAN K26R Polymorphism CLIC3_HUMAN P38H Polymorphism BST1_HUMAN R125H Polymorphism BST1_HUMAN R145Q Polymorphism BCOR_HUMAN P85L Disease VAX2_HUMAN P254R Polymorphism CU094_HUMAN C49Y Polymorphism CXA8_HUMAN P87S Disease BTD_HUMAN Q436H Disease BTD_HUMAN G431D Disease BTD_HUMAN D424H Disease BTD_HUMAN F108V Disease BTD_HUMAN T512M Disease BTD_HUMAN D208Y Disease BTD_HUMAN R518C Disease BTD_HUMAN H303R Disease BTD_HUMAN A151T Disease L1CAM_HUMAN H210Q Disease L1CAM_HUMAN G452R Disease L1CAM_HUMAN A691D Disease L1CAM_HUMAN E309K Disease L1CAM_HUMAN R632P Disease L1CAM_HUMAN G121S Disease L1CAM_HUMAN W9S Disease L1CAM_HUMAN R473C Disease L1CAM_HUMAN G370R Disease L1CAM_HUMAN I179S Disease L1CAM_HUMAN Y784C Disease L1CAM_HUMAN R386C Disease L1CAM_HUMAN S1224L Disease L1CAM_HUMAN P941L Disease L1CAM_HUMAN W335R Disease L1CAM_HUMAN V768F Disease L1CAM_HUMAN R184Q Disease L1CAM_HUMAN G698R Disease L1CAM_HUMAN Y194C Disease L1CAM_HUMAN S1194L Disease L1CAM_HUMAN L935P Disease L1CAM_HUMAN Y1070C Disease L1CAM_HUMAN D598N Disease L1CAM_HUMAN I219T Disease L1CAM_HUMAN V752M Disease L1CAM_HUMAN P240L Disease L1CAM_HUMAN C264Y Disease GPR32_HUMAN F327L Polymorphism ZN510_HUMAN C89R Polymorphism ZN510_HUMAN Q43R Polymorphism LOX12_HUMAN Q260R Polymorphism LOX12_HUMAN A297T Polymorphism LOX12_HUMAN S321N Polymorphism LOX12_HUMAN R429H Polymorphism KCNQ2_HUMAN Y284C Disease KCNQ2_HUMAN A306T Disease KCNQ2_HUMAN R214W Disease KCNQ2_HUMAN N780T Polymorphism GRIA3_HUMAN F525L Polymorphism APOA1_HUMAN K131M Polymorphism APOA1_HUMAN D113E Polymorphism APOA1_HUMAN P27R Polymorphism APOA1_HUMAN D126H Polymorphism APOA1_HUMAN E163G Polymorphism APOA1_HUMAN R184P Polymorphism APOA1_HUMAN P189R Polymorphism APOA1_HUMAN E171V Polymorphism APOA1_HUMAN L84R Disease APOA1_HUMAN T92I Polymorphism IL10_HUMAN G15R Disease NU5M_HUMAN A160V Polymorphism NU5M_HUMAN D503G Polymorphism NU5M_HUMAN T331A Polymorphism NU5M_HUMAN A458T Disease NU5M_HUMAN M314V Polymorphism NU5M_HUMAN F95S Polymorphism NU5M_HUMAN P17S Polymorphism NU5M_HUMAN F304S Polymorphism NU5M_HUMAN T211P Polymorphism NU5M_HUMAN N165S Polymorphism NU5M_HUMAN A475T Polymorphism NU5M_HUMAN I257V Polymorphism NU5M_HUMAN G146D Polymorphism NU5M_HUMAN G465E Disease NU5M_HUMAN S99P Polymorphism AMFR1_HUMAN I181V Polymorphism BGAL_HUMAN D332N Disease BGAL_HUMAN R521C Polymorphism BGAL_HUMAN E632G Disease BGAL_HUMAN Q408P Disease BGAL_HUMAN R482H Disease BGAL_HUMAN K578R Disease BGAL_HUMAN R482C Disease BGAL_HUMAN I51T Disease BGAL_HUMAN R208C Disease BGAL_HUMAN D214Y Disease BGAL_HUMAN W273L Disease BGAL_HUMAN S532G Polymorphism BGAL_HUMAN G494C Disease BGAL_HUMAN R59H Disease BGAL_HUMAN R590H Disease BGAL_HUMAN Y83H Disease BGAL_HUMAN T82M Disease BGAL_HUMAN G579D Disease BGAL_HUMAN N484K Disease BGAL_HUMAN L10P Polymorphism BGAL_HUMAN V216A Disease BGAL_HUMAN P263S Disease BGAL_HUMAN R201H Disease BGAL_HUMAN R148S Disease BGAL_HUMAN R201C Disease BGAL_HUMAN D491N Disease BGAL_HUMAN W509C Disease BGAL_HUMAN T500A Disease BGAL_HUMAN G438E Disease BGAL_HUMAN R121S Disease BGAL_HUMAN V240M Disease BGAL_HUMAN R457Q Disease BGAL_HUMAN Y591N Disease BGAL_HUMAN G123R Disease BGAL_HUMAN Y591C Disease BGAL_HUMAN Y316C Disease BGAL_HUMAN N266S Disease BGAL_HUMAN R49C Disease PACN2_HUMAN M294I Polymorphism PACN2_HUMAN V324F Polymorphism AK1BA_HUMAN M286T Polymorphism AK1BA_HUMAN P87S Polymorphism AK1BA_HUMAN D313N Polymorphism PHS1_HUMAN N376K Disease PHS1_HUMAN R714S Polymorphism PHS1_HUMAN V230E Polymorphism PHS1_HUMAN N338S Disease PHS1_HUMAN V221I Polymorphism PERE_HUMAN N572Y Polymorphism PERE_HUMAN R286H Disease KIF17_HUMAN M402V Polymorphism KIF17_HUMAN E933D Polymorphism MYP0_HUMAN Y82C Disease MYP0_HUMAN N122S Disease MYP0_HUMAN D90E Disease MYP0_HUMAN I99T Disease MYP0_HUMAN N116H Disease MYP0_HUMAN I30M Disease MYP0_HUMAN V58F Disease MYP0_HUMAN T143M Disease MYP0_HUMAN P132L Disease MYP0_HUMAN G163R Disease MYP0_HUMAN V32F Disease MYP0_HUMAN G93E Disease MYP0_HUMAN H81R Disease MYP0_HUMAN R98S Disease MYP0_HUMAN Y68C Disease MYP0_HUMAN R98P Disease MYP0_HUMAN G167A Disease MYP0_HUMAN R98H Disease MYP0_HUMAN D118N Disease MYP0_HUMAN R98C Disease MYP0_HUMAN K96E Disease MYP0_HUMAN G167R Disease MYP0_HUMAN V92M Disease MYP0_HUMAN D35Y Disease MYP0_HUMAN T34I Disease MYP0_HUMAN N131K Disease MYP0_HUMAN I112T Disease MYP0_HUMAN C127Y Disease MYP0_HUMAN S63F Disease MYP0_HUMAN W101C Disease MYP0_HUMAN I114T Disease MYP0_HUMAN S63C Disease MYP0_HUMAN I62F Disease MYP0_HUMAN D75V Disease MYP0_HUMAN D134N Disease MYP0_HUMAN S54P Disease MYP0_HUMAN D128E Disease MYP0_HUMAN I135T Disease MYP0_HUMAN D134E Disease MYP0_HUMAN T124M Disease MYP0_HUMAN D128N Disease MYP0_HUMAN G137S Disease MYP0_HUMAN R244L Polymorphism MYP0_HUMAN G103E Disease MYP0_HUMAN I162M Disease MYP0_HUMAN S54C Disease MYP0_HUMAN K236E Disease MYP0_HUMAN V136E Disease MYP0_HUMAN I89N Disease MYP0_HUMAN S44F Disease MYP0_HUMAN K130R Disease MYP0_HUMAN G123C Disease MYP0_HUMAN S78L Disease MYP0_HUMAN I135L Disease PKN1_HUMAN V901I Polymorphism SCND2_HUMAN A185T Polymorphism TNR6_HUMAN N255D Disease TNR6_HUMAN A257D Disease TNR6_HUMAN T241K Disease TNR6_HUMAN E272G Disease TNR6_HUMAN I310S Disease TNR6_HUMAN E272K Disease TNR6_HUMAN N118S Disease TNR6_HUMAN D260Y Disease TNR6_HUMAN Y232C Disease TNR6_HUMAN T305I Polymorphism TNR6_HUMAN L180F Disease TNR6_HUMAN D260V Disease TNR6_HUMAN A16T Polymorphism TNR6_HUMAN T28A Disease TNR6_HUMAN C82R Disease TNR6_HUMAN L278F Disease TNR6_HUMAN T270I Disease TNR6_HUMAN D260G Disease TNR6_HUMAN R250P Disease TNR6_HUMAN R250Q Disease TNR6_HUMAN P183L Disease TNR6_HUMAN R121W Disease TNR6_HUMAN K299N Disease TNR6_HUMAN A25T Disease TNR6_HUMAN N264K Disease TNR6_HUMAN T198I Disease TNR6_HUMAN T122I Polymorphism TNR6_HUMAN C178R Disease TNR6_HUMAN T241P Disease NEUS_HUMAN S52R Disease NEUS_HUMAN S49P Disease MCPT1_HUMAN G46R Polymorphism MCPT1_HUMAN H66R Polymorphism PLCG1_HUMAN I813T Polymorphism PLCG1_HUMAN S279G Polymorphism DHSD_HUMAN L139P Disease DHSD_HUMAN G12S Polymorphism DHSD_HUMAN H102L Disease DHSD_HUMAN H50R Polymorphism DHSD_HUMAN P81L Disease DHSD_HUMAN D92Y Disease DHSD_HUMAN Y114C Disease ATP7B_HUMAN R1322P Disease ATP7B_HUMAN D1271N Disease ATP7B_HUMAN G85V Disease ATP7B_HUMAN G1213V Disease ATP7B_HUMAN R1038K Disease ATP7B_HUMAN G711R Disease ATP7B_HUMAN Q1142H Disease ATP7B_HUMAN G711W Disease ATP7B_HUMAN C985Y Disease ATP7B_HUMAN P840L Disease ATP7B_HUMAN G1101R Disease ATP7B_HUMAN P690L Disease ATP7B_HUMAN G711E Disease ATP7B_HUMAN G1099S Disease ATP7B_HUMAN R1041W Disease ATP7B_HUMAN R1041P Disease ATP7B_HUMAN A1358S Disease ATP7B_HUMAN I857T Disease ATP7B_HUMAN I1148T Disease ATP7B_HUMAN R919G Disease ATP7B_HUMAN C1104F Disease ATP7B_HUMAN V1297I Polymorphism ATP7B_HUMAN R919W Disease ATP7B_HUMAN D918E Disease ATP7B_HUMAN P1273L Disease ATP7B_HUMAN R969Q Disease ATP7B_HUMAN D918N Disease ATP7B_HUMAN A874V Disease ATP7B_HUMAN D765G Disease ATP7B_HUMAN L1083F Disease ATP7B_HUMAN G943D Disease ATP7B_HUMAN D765N Disease ATP7B_HUMAN G626A Disease ATP7B_HUMAN D1279G Disease ATP7B_HUMAN S1310R Disease ATP7B_HUMAN D642H Disease ATP7B_HUMAN S921N Disease ATP7B_HUMAN G943S Disease ATP7B_HUMAN T933P Disease ATP7B_HUMAN S1363F Disease ATP7B_HUMAN I390V Polymorphism ATP7B_HUMAN D1222Y Disease ATP7B_HUMAN D1222V Disease ATP7B_HUMAN E1064A Disease ATP7B_HUMAN R778L Disease ATP7B_HUMAN E1064K Disease ATP7B_HUMAN G869V Disease ATP7B_HUMAN R778G Disease ATP7B_HUMAN R778Q Disease ATP7B_HUMAN R778W Disease ATP7B_HUMAN K1248N Disease ATP7B_HUMAN Q898R Disease ATP7B_HUMAN G710R Disease ATP7B_HUMAN G710S Disease ATP7B_HUMAN I1336T Disease ATP7B_HUMAN T1220M Disease ATP7B_HUMAN L795F Disease ATP7B_HUMAN G710A Disease ATP7B_HUMAN M665I Disease ATP7B_HUMAN H1069Q Disease ATP7B_HUMAN F1094L Disease ATP7B_HUMAN L492S Disease ATP7B_HUMAN G891V Disease ATP7B_HUMAN S721P Disease ATP7B_HUMAN R616Q Disease ATP7B_HUMAN R616W Disease ATP7B_HUMAN A1018V Disease ATP7B_HUMAN V1262F Disease ATP7B_HUMAN G1061E Disease ATP7B_HUMAN L1373P Disease ATP7B_HUMAN L1373R Disease ATP7B_HUMAN G1111D Disease ATP7B_HUMAN M1169V Polymorphism ATP7B_HUMAN M769I Disease ATP7B_HUMAN M1169T Disease ATP7B_HUMAN M769V Disease ATP7B_HUMAN G691R Disease ATP7B_HUMAN V446L Polymorphism ATP7B_HUMAN M769R Disease ATP7B_HUMAN V890M Disease ATP7B_HUMAN E1173K Disease ATP7B_HUMAN R1151H Disease ATP7B_HUMAN G1186S Disease ATP7B_HUMAN A14D Polymorphism ATP7B_HUMAN G1089V Disease ATP7B_HUMAN P1052L Disease ATP7B_HUMAN N1270S Disease ATP7B_HUMAN A1183T Disease ATP7B_HUMAN G1089E Disease ATP7B_HUMAN M645R Disease ATP7B_HUMAN G1186C Disease ATP7B_HUMAN Q1095P Disease ATP7B_HUMAN A1183G Disease ATP7B_HUMAN L1043P Disease ATP7B_HUMAN G1266R Disease ATP7B_HUMAN T1031I Disease ATP7B_HUMAN G1266V Disease ATP7B_HUMAN V1109M Polymorphism ATP7B_HUMAN N565S Polymorphism ATP7B_HUMAN G1035V Disease ATP7B_HUMAN I967F Disease ATP7B_HUMAN A1278V Disease ATP7B_HUMAN W1153C Disease ATP7B_HUMAN T935M Disease ATP7B_HUMAN P768H Disease ATP7B_HUMAN L1327V Disease ATP7B_HUMAN W1153R Disease ATP7B_HUMAN V1146M Disease ATP7B_HUMAN L466V Polymorphism ATP7B_HUMAN E1068G Disease ATP7B_HUMAN G1176R Disease ATP7B_HUMAN L776V Polymorphism ATP7B_HUMAN L795R Disease ATP7B_HUMAN V1239G Disease ATP7B_HUMAN L1305P Disease ATP7B_HUMAN V456L Polymorphism ATP7B_HUMAN D1267A Disease ATP7B_HUMAN T737R Disease ATP7B_HUMAN N41S Disease ATP7B_HUMAN K952R Polymorphism ATP7B_HUMAN K832R Polymorphism ATP7B_HUMAN H1207R Polymorphism ATP7B_HUMAN P1098R Disease ATP7B_HUMAN S744P Disease ATP7B_HUMAN P1245S Polymorphism ATP7B_HUMAN G1355C Disease ATP7B_HUMAN L1255I Disease ATP7B_HUMAN T1033S Disease ATP7B_HUMAN G1341D Disease ATP7B_HUMAN S975Y Disease ATP7B_HUMAN G1355S Disease ATP7B_HUMAN T1033A Disease ATP7B_HUMAN P992L Disease ATP7B_HUMAN V864I Polymorphism ATP7B_HUMAN V1216M Disease ATP7B_HUMAN Y713C Disease ATP7B_HUMAN L708P Disease ATP7B_HUMAN T1434M Disease ATP7B_HUMAN P760L Disease ATP7B_HUMAN V995A Polymorphism ATP7B_HUMAN W1353R Disease ATP7B_HUMAN A1168S Disease ATP7B_HUMAN V1106D Disease ATP7B_HUMAN A1003T Disease ATP7B_HUMAN A1003V Disease ATP7B_HUMAN T1232P Disease ATP7B_HUMAN Y741C Disease ATP7B_HUMAN S406A Polymorphism ATP7B_HUMAN V949G Disease ATP7B_HUMAN R723G Polymorphism ATP7B_HUMAN T1143N Polymorphism ATP7B_HUMAN R875G Polymorphism ATP7B_HUMAN S693C Disease ATP7B_HUMAN A1063V Disease ATP7B_HUMAN L641S Disease ATP7B_HUMAN I747F Disease ATP7B_HUMAN G869R Disease ATP7B_HUMAN D96G Polymorphism ATP7B_HUMAN V1140A Polymorphism ATP7B_HUMAN I1102T Disease ATP7B_HUMAN T977M Disease NVL_HUMAN C359G Polymorphism PE2R3_HUMAN P375L Polymorphism PE2R3_HUMAN M169L Polymorphism CT103_HUMAN I81V Polymorphism CT103_HUMAN Q103E Polymorphism CT103_HUMAN D12G Polymorphism CT103_HUMAN S158G Polymorphism CCR9_HUMAN M272V Polymorphism CDK2_HUMAN T290S Polymorphism CDK2_HUMAN Y15S Polymorphism MTP_HUMAN G746E Disease MTP_HUMAN I128T Polymorphism MTP_HUMAN N780Y Disease MTP_HUMAN Q95H Polymorphism MTP_HUMAN E354Q Polymorphism MTP_HUMAN H297Q Polymorphism MTP_HUMAN Q244E Polymorphism MTP_HUMAN D384A Polymorphism MTP_HUMAN R540H Disease MTP_HUMAN S590I Disease MTP_HUMAN V168I Polymorphism GSH1_HUMAN L54S Polymorphism GSH1_HUMAN P461S Polymorphism GSH1_HUMAN H369L Disease GSH1_HUMAN P157L Disease GSH1_HUMAN R126C Disease PMGT1_HUMAN S550N Disease PMGT1_HUMAN V623M Polymorphism PMGT1_HUMAN R442C Disease PMGT1_HUMAN C490Y Disease PMGT1_HUMAN P493R Disease PMGT1_HUMAN W425S Disease PMGT1_HUMAN R311Q Disease PMGT1_HUMAN C269Y Disease PMGT1_HUMAN E223K Disease PMGT1_HUMAN R265H Disease CBS_HUMAN G304R Disease CBS_HUMAN L100P Disease CBS_HUMAN R335C Disease CBS_HUMAN G306S Disease CBS_HUMAN C108R Disease CBS_HUMAN R120C Disease CBS_HUMAN V353M Disease CBS_HUMAN E127D Disease CBS_HUMAN R120H Disease CBS_HUMAN R335H Disease CBS_HUMAN R124W Disease CBS_HUMAN E238K Disease CBS_HUMAN R265G Disease CBS_HUMAN P48L Disease CBS_HUMAN C274Y Disease CBS_HUMAN C164Y Disease CBS_HUMAN R124Q Disease CBS_HUMAN K101N Disease CBS_HUMAN S348N Disease CBS_HUMAN S351N Disease CBS_HUMAN V370M Disease CBS_HUMAN R265K Disease CBS_HUMAN R490C Disease CBS_HUMAN R120L Disease CBS_HUMAN T352M Disease CBS_HUMAN G115R Disease CBS_HUMAN I277T Disease CBS_HUMAN G147R Disease CBS_HUMAN K101Q Disease CBS_HUMAN H64R Disease CBS_HUMAN I142M Disease CBS_HUMAN V179A Disease CBS_HUMAN P77R Disease CBS_HUMAN V533D Disease CBS_HUMAN D233N Disease CBS_HUMAN G138R Disease CBS_HUMAN E301K Disease CBS_HUMAN I434T Disease CBS_HUMAN M125V Disease CBS_HUMAN E130D Disease CBS_HUMAN A113V Disease CBS_HUMAN A330E Disease CBS_HUMAN D197V Disease CBS_HUMAN N227K Disease CBS_HUMAN A154T Disease CBS_HUMAN T256M Disease CBS_HUMAN K383E Disease CBS_HUMAN C369Y Disease CBS_HUMAN E175K Disease CBS_HUMAN E143K Disease CBS_HUMAN A225T Disease CBS_HUMAN R223H Disease CBS_HUMAN G346S Disease CBS_HUMAN A330V Disease CBS_HUMAN V319A Disease CBS_HUMAN P87S Disease CBS_HUMAN S465L Disease CBS_HUMAN T433N Disease CBS_HUMAN R438Q Disease CBS_HUMAN V453E Disease CBS_HUMAN R378Q Disease CBS_HUMAN G150R Disease CBS_HUMAN V167M Disease CBS_HUMAN T261M Disease CBS_HUMAN P421L Disease CBS_HUMAN R57W Disease CBS_HUMAN L337P Disease CBS_HUMAN K383N Disease CBS_HUMAN A354P Disease CBS_HUMAN G84R Disease CBS_HUMAN P289L Disease CBS_HUMAN M390I Disease CBS_HUMAN R368H Disease CBS_HUMAN D443N Disease CBS_HUMAN T190M Disease CBS_HUMAN I151M Disease CBS_HUMAN T261R Disease CBS_HUMAN P144L Disease CBS_HUMAN L455P Disease CBS_HUMAN L538S Disease CBS_HUMAN R368C Disease 68MP_HUMAN I9V Polymorphism DPYL2_HUMAN A118T Polymorphism CNTF_HUMAN H182R Polymorphism CNTN5_HUMAN N81S Polymorphism CNTN5_HUMAN Y1065F Polymorphism CNTN5_HUMAN I530V Polymorphism CNTN5_HUMAN S1079T Polymorphism CNTN5_HUMAN L70R Polymorphism CNTN5_HUMAN S23A Polymorphism GPX5_HUMAN L85V Polymorphism STK10_HUMAN K277E Disease ZN214_HUMAN L128H Polymorphism ZN214_HUMAN I185R Polymorphism ERO1B_HUMAN H465Q Polymorphism RPE65_HUMAN R43Q Disease RPE65_HUMAN R90Q Disease RPE65_HUMAN R90W Disease RPE65_HUMAN Y143D Disease RPE65_HUMAN Y430C Disease RPE65_HUMAN V286F Disease RPE65_HUMAN Y367H Disease RPE65_HUMAN A131T Disease RPE65_HUMAN G39S Disease RPE65_HUMAN L21P Disease RPE65_HUMAN H181Y Disease RPE65_HUMAN E416Q Disease RPE65_HUMAN A392G Disease RPE65_HUMAN L340S Disease RPE65_HUMAN P362T Disease RPE65_HUMAN H67Y Disease RPE65_HUMAN V451G Disease RPE65_HUMAN N320K Disease CO4B_HUMAN L1210R Polymorphism CO4B_HUMAN S1286A Polymorphism CO4B_HUMAN S347Y Polymorphism CO4B_HUMAN V1207A Polymorphism CO4B_HUMAN N1176S Polymorphism CO4B_HUMAN S1201T Polymorphism CO4B_HUMAN A907T Polymorphism CO4B_HUMAN D1073G Polymorphism CO4A_HUMAN P726L Polymorphism CO4A_HUMAN L1210R Polymorphism CO4A_HUMAN S1201T Polymorphism CO4A_HUMAN S347Y Polymorphism CO4A_HUMAN S1286A Polymorphism CO4A_HUMAN N1176S Polymorphism CO4A_HUMAN D727N Polymorphism CO4A_HUMAN D1073G Polymorphism CO4A_HUMAN A907T Polymorphism CO4A_HUMAN V1207A Polymorphism CO4A_HUMAN R477W Polymorphism REL1_HUMAN K28M Polymorphism ZDHC2_HUMAN M356I Disease ZDHC2_HUMAN S306F Disease ACY1_HUMAN R386C Polymorphism FGF1_HUMAN G21E Polymorphism CCL11_HUMAN A23T Polymorphism ARTS1_HUMAN G334D Polymorphism ARTS1_HUMAN D563N Polymorphism ARTS1_HUMAN Q718E Polymorphism ARTS1_HUMAN I264M Polymorphism ARTS1_HUMAN K516R Polymorphism ARTS1_HUMAN R713Q Polymorphism ARTS1_HUMAN M337V Polymorphism ARTS1_HUMAN R115P Polymorphism MITF_HUMAN R310K Disease MITF_HUMAN N385D Disease MITF_HUMAN N317K Disease MITF_HUMAN S405P Disease MITF_HUMAN S357P Disease ERCC3_HUMAN T119P Disease ERCC3_HUMAN S704L Polymorphism ERCC3_HUMAN G402C Polymorphism ERCC3_HUMAN K117R Polymorphism ERCC3_HUMAN S735P Polymorphism ERCC3_HUMAN F99S Disease K1H6_HUMAN T315M Polymorphism AGT2_HUMAN V140I Polymorphism AGT2_HUMAN S102N Polymorphism AGT2_HUMAN T212I Polymorphism GATA3_HUMAN W274R Disease GATA3_HUMAN G242S Polymorphism INSL3_HUMAN P49S Polymorphism INSL3_HUMAN P93L Disease INSL3_HUMAN R102C Disease INSL3_HUMAN A24G Polymorphism INSL3_HUMAN R102H Polymorphism INSL3_HUMAN V43L Polymorphism INSL3_HUMAN A60T Polymorphism INSL3_HUMAN N110K Disease GAS8_HUMAN E199K Polymorphism MERTK_HUMAN R20S Polymorphism MERTK_HUMAN N498S Polymorphism MERTK_HUMAN S661C Disease MERTK_HUMAN A282T Polymorphism MERTK_HUMAN R293H Polymorphism MERTK_HUMAN I871T Disease MERTK_HUMAN R865W Polymorphism MERTK_HUMAN I871V Polymorphism MERTK_HUMAN E540K Disease MERTK_HUMAN R466K Polymorphism MERTK_HUMAN I518V Polymorphism MERTK_HUMAN N118S Polymorphism TXLNB_HUMAN P650A Polymorphism TXLNB_HUMAN A11T Polymorphism LARGE_HUMAN R665H Polymorphism LARGE_HUMAN R68G Polymorphism LARGE_HUMAN R68P Polymorphism LARGE_HUMAN E509K Disease IL22_HUMAN S158G Polymorphism RRAS2_HUMAN Q72L Disease ZDH11_HUMAN R372H Polymorphism IRF6_HUMAN A2V Disease IRF6_HUMAN A61G Disease IRF6_HUMAN V274I Polymorphism IRF6_HUMAN L294P Disease IRF6_HUMAN N88H Disease IRF6_HUMAN L345P Disease IRF6_HUMAN D430N Disease IRF6_HUMAN V18M Disease IRF6_HUMAN C374W Disease IRF6_HUMAN K66T Disease IRF6_HUMAN V321M Disease IRF6_HUMAN K388E Disease IRF6_HUMAN F369S Disease IRF6_HUMAN R250Q Disease IRF6_HUMAN S90G Disease IRF6_HUMAN G70R Disease IRF6_HUMAN P39A Disease IRF6_HUMAN R84H Disease IRF6_HUMAN K89E Disease IRF6_HUMAN Q273R Disease IRF6_HUMAN R84C Disease IRF6_HUMAN G325E Disease IRF6_HUMAN V18A Disease IRF6_HUMAN C347F Disease IRF6_HUMAN V297I Disease IRF6_HUMAN K320E Disease IRF6_HUMAN Q82K Disease IRF6_HUMAN W60G Disease IRF6_HUMAN D98H Disease IRF6_HUMAN P76S Disease SCN1B_HUMAN C121W Disease MCM3A_HUMAN V1576I Polymorphism MCM3A_HUMAN A1795T Polymorphism MCM3A_HUMAN P413L Polymorphism MCM3A_HUMAN R1314W Polymorphism MCM3A_HUMAN D1449E Polymorphism MCM3A_HUMAN M288V Polymorphism MCM3A_HUMAN P1051L Polymorphism MCM3A_HUMAN L1870R Polymorphism MCM3A_HUMAN S102L Polymorphism MCM3A_HUMAN V1062M Polymorphism MCM3A_HUMAN R333L Polymorphism MCM3A_HUMAN A1941V Polymorphism SL9A9_HUMAN I589V Polymorphism FBLI1_HUMAN F191S Polymorphism CYB_HUMAN A39T Polymorphism CYB_HUMAN A87P Polymorphism CYB_HUMAN V353M Polymorphism CYB_HUMAN A329T Polymorphism CYB_HUMAN T194A Polymorphism CYB_HUMAN F276L Disease CYB_HUMAN G251D Disease CYB_HUMAN I164V Polymorphism CYB_HUMAN D171N Disease CYB_HUMAN I306T Polymorphism CYB_HUMAN T123A Polymorphism CYB_HUMAN L236I Polymorphism CYB_HUMAN A191T Polymorphism CYB_HUMAN N8S Polymorphism CYB_HUMAN I334V Polymorphism CYB_HUMAN N260D Polymorphism CYB_HUMAN R80H Disease CYB_HUMAN V356M Disease CYB_HUMAN A122T Polymorphism CYB_HUMAN I7T Polymorphism CYB_HUMAN A330T Polymorphism CYB_HUMAN A229T Polymorphism CYB_HUMAN M316T Polymorphism CYB_HUMAN I78T Polymorphism CYB_HUMAN I78V Polymorphism CYB_HUMAN T360A Polymorphism CYB_HUMAN A39V Polymorphism CYB_HUMAN I153T Polymorphism CYB_HUMAN T368I Polymorphism CYB_HUMAN F18L Polymorphism CALU_HUMAN R4Q Polymorphism NRAM2_HUMAN L435I Polymorphism KAD7_HUMAN R102Q Polymorphism PPIP1_HUMAN Q156H Polymorphism PPIP1_HUMAN A230T Disease PPIP1_HUMAN E106K Polymorphism PPIP1_HUMAN R149L Polymorphism PPIP1_HUMAN E155D Polymorphism PPIP1_HUMAN Q48H Polymorphism PPIP1_HUMAN Q146H Polymorphism PPIP1_HUMAN E250Q Disease PPIP1_HUMAN A151S Polymorphism FA10_HUMAN A152T Polymorphism FA10_HUMAN G192R Polymorphism FA10_HUMAN L7I Polymorphism FA10_HUMAN Q30H Polymorphism HEM3_HUMAN S28N Disease HEM3_HUMAN C247F Disease HEM3_HUMAN P119L Disease HEM3_HUMAN K98R Disease HEM3_HUMAN R149L Disease HEM3_HUMAN R167W Disease HEM3_HUMAN T269I Disease HEM3_HUMAN L245R Disease HEM3_HUMAN H256N Disease HEM3_HUMAN L42S Disease HEM3_HUMAN G280R Disease HEM3_HUMAN G24S Disease HEM3_HUMAN A270D Disease HEM3_HUMAN A270G Disease HEM3_HUMAN D61N Disease HEM3_HUMAN H256Y Disease HEM3_HUMAN L177R Disease HEM3_HUMAN G216D Disease HEM3_HUMAN D178N Disease HEM3_HUMAN R149Q Disease HEM3_HUMAN V124D Disease HEM3_HUMAN L278P Disease HEM3_HUMAN R26H Disease HEM3_HUMAN E250A Disease HEM3_HUMAN R26C Disease HEM3_HUMAN V93F Disease HEM3_HUMAN E250K Disease HEM3_HUMAN Q217H Disease HEM3_HUMAN E250V Disease HEM3_HUMAN A31T Disease HEM3_HUMAN V222M Disease HEM3_HUMAN T35M Disease HEM3_HUMAN E250Q Disease HEM3_HUMAN R22C Disease HEM3_HUMAN V202L Disease HEM3_HUMAN V90G Disease HEM3_HUMAN G274R Disease HEM3_HUMAN V267M Disease HEM3_HUMAN Q34P Disease HEM3_HUMAN E209K Disease HEM3_HUMAN A252T Disease HEM3_HUMAN A55S Disease HEM3_HUMAN A252V Disease HEM3_HUMAN R167Q Disease HEM3_HUMAN L238R Disease HEM3_HUMAN R116Q Disease HEM3_HUMAN R116W Disease HEM3_HUMAN R201W Disease HEM3_HUMAN G335D Disease HEM3_HUMAN G111R Disease HEM3_HUMAN Q34K Disease HEM3_HUMAN R173Q Disease HEM3_HUMAN R173W Disease HEM3_HUMAN R225G Disease HEM3_HUMAN A219D Disease HEM3_HUMAN G335S Disease HEM3_HUMAN L85R Disease HEM3_HUMAN A31P Disease HEM3_HUMAN E223K Disease HEM3_HUMAN C247R Disease HEM3_HUMAN Q217L Disease HEM3_HUMAN R195C Disease OAT_HUMAN A270P Disease OAT_HUMAN L402P Disease OAT_HUMAN C394R Disease OAT_HUMAN G353D Disease OAT_HUMAN N54K Disease OAT_HUMAN R154L Disease OAT_HUMAN P241L Disease OAT_HUMAN Y245C Disease OAT_HUMAN R250P Disease OAT_HUMAN P417L Disease OAT_HUMAN Q90E Disease OAT_HUMAN R271K Disease OAT_HUMAN Y55H Disease OAT_HUMAN N89K Disease OAT_HUMAN T267I Disease OAT_HUMAN H319Y Disease OAT_HUMAN G375A Disease OAT_HUMAN C93F Disease OAT_HUMAN A226V Disease OAT_HUMAN R180T Disease OAT_HUMAN L437F Polymorphism OAT_HUMAN V332M Disease GDIA_HUMAN R423P Disease GDIA_HUMAN L92P Disease CDN2B_HUMAN A50V Disease CDN2B_HUMAN G47E Disease CXB3_HUMAN F137L Disease CXB3_HUMAN R32W Polymorphism CXB3_HUMAN R42P Disease CXB3_HUMAN G12R Disease CXB3_HUMAN E183K Disease CXB3_HUMAN C86S Disease CXB3_HUMAN G12D Disease CXB3_HUMAN V200I Polymorphism CXB3_HUMAN I141V Disease TGFB3_HUMAN T60M Polymorphism APEX1_HUMAN D147E Polymorphism APEX1_HUMAN Q50H Polymorphism APEX1_HUMAN I63V Polymorphism SPRL1_HUMAN D49A Polymorphism TRI15_HUMAN I29V Polymorphism M4A6A_HUMAN A183S Polymorphism M4A6A_HUMAN T185S Polymorphism CP343_HUMAN P340A Polymorphism PNPH_HUMAN Y192C Disease PNPH_HUMAN D128G Disease PNPH_HUMAN R234P Disease PNPH_HUMAN A174P Disease PNPH_HUMAN E89K Disease PNPH_HUMAN S51G Polymorphism TPMT_HUMAN Y240C Polymorphism TPMT_HUMAN A154T Polymorphism TPMT_HUMAN R215H Polymorphism TPMT_HUMAN L49S Polymorphism TPMT_HUMAN H227Q Polymorphism TPMT_HUMAN Y180F Polymorphism TPMT_HUMAN A80P Polymorphism MYF6_HUMAN A90D Disease MYF6_HUMAN A112S Disease PER3_HUMAN P827L Polymorphism PER3_HUMAN P856A Polymorphism ATM_HUMAN V1913G Disease ATM_HUMAN F858L Polymorphism ATM_HUMAN A2067D Disease ATM_HUMAN A3006P Disease ATM_HUMAN E2164K Disease ATM_HUMAN L1465P Disease ATM_HUMAN D1682H Disease ATM_HUMAN A2274T Disease ATM_HUMAN G2063E Disease ATM_HUMAN N750K Disease ATM_HUMAN L1420P Disease ATM_HUMAN D2725V Disease ATM_HUMAN L2890V Disease ATM_HUMAN N768D Disease ATM_HUMAN G2867R Disease ATM_HUMAN M1040V Disease ATM_HUMAN R2486G Disease ATM_HUMAN A2726V Disease ATM_HUMAN L950R Disease ATM_HUMAN P1054R Polymorphism ATM_HUMAN H2554D Disease ATM_HUMAN L1420F Polymorphism ATM_HUMAN R2909G Disease ATM_HUMAN D2725G Disease ATM_HUMAN H1082L Disease ATM_HUMAN V1570A Polymorphism ATM_HUMAN P292L Disease ATM_HUMAN F1463S Disease ATM_HUMAN G2695A Disease ATM_HUMAN P2829L Disease ATM_HUMAN D3003N Polymorphism ATM_HUMAN E2423G Disease ATM_HUMAN C2824Y Disease ATM_HUMAN I352T Disease ATM_HUMAN Y332C Disease ATM_HUMAN D2016G Disease ATM_HUMAN L2656P Disease ATM_HUMAN T1743I Disease ATM_HUMAN S2855R Disease ATM_HUMAN E2668G Disease ATM_HUMAN R2832C Disease ATM_HUMAN F570S Disease ATM_HUMAN K3018N Disease ATM_HUMAN R785C Disease ATM_HUMAN K224E Disease ATM_HUMAN Q2442P Disease ATM_HUMAN L2722R Disease ATM_HUMAN L1910H Disease ATM_HUMAN D1853V Polymorphism ATM_HUMAN R2227C Disease ATM_HUMAN P1566R Disease ATM_HUMAN V2424G Disease ATM_HUMAN A350T Disease ATM_HUMAN E1091D Disease ATM_HUMAN E2139G Disease ATM_HUMAN V2079I Polymorphism ATM_HUMAN I2702R Disease ATM_HUMAN R3008H Disease ATM_HUMAN I323V Disease ATM_HUMAN F2827C Disease ATM_HUMAN F2732L Disease ATM_HUMAN G2287A Polymorphism ATM_HUMAN R3008C Disease ATM_HUMAN W2491R Disease ATM_HUMAN T2438I Polymorphism ATM_HUMAN S49C Polymorphism ATM_HUMAN I1407T Disease ATM_HUMAN D2625Q Disease ATM_HUMAN L1001Q Disease ATM_HUMAN D1853N Polymorphism ATM_HUMAN D126E Polymorphism ATM_HUMAN S1691R Disease ATM_HUMAN T1953R Disease ATM_HUMAN E2904G Disease ATM_HUMAN S2218C Disease ATM_HUMAN Y2470D Disease ATM_HUMAN T2396S Disease ATM_HUMAN G514D Polymorphism ATM_HUMAN V182L Polymorphism ATM_HUMAN A2420P Disease ATM_HUMAN K1454N Polymorphism ATM_HUMAN S707P Polymorphism ATM_HUMAN R2849P Disease SEN15_HUMAN Q59H Polymorphism SEN15_HUMAN G19D Polymorphism SFRP3_HUMAN R324G Polymorphism SFRP3_HUMAN R200W Polymorphism RM49_HUMAN T9A Polymorphism CP2J2_HUMAN N124S Polymorphism CP2J2_HUMAN N404Y Polymorphism CP2J2_HUMAN R158C Polymorphism CP2J2_HUMAN D342N Polymorphism CP2J2_HUMAN T143A Polymorphism CP2J2_HUMAN I192N Polymorphism ITAX_HUMAN W48R Polymorphism LDLR_HUMAN W483R Disease LDLR_HUMAN D175Y Disease LDLR_HUMAN H327Y Disease LDLR_HUMAN C368R Disease LDLR_HUMAN D482H Disease LDLR_HUMAN P608S Disease LDLR_HUMAN R350P Disease LDLR_HUMAN N564H Disease LDLR_HUMAN F403L Disease LDLR_HUMAN D224V Disease LDLR_HUMAN C197R Disease LDLR_HUMAN C116R Disease LDLR_HUMAN D221N Disease LDLR_HUMAN L432V Disease LDLR_HUMAN C338S Disease LDLR_HUMAN D221Y Disease LDLR_HUMAN P649L Disease LDLR_HUMAN V797M Disease LDLR_HUMAN R416Q Disease LDLR_HUMAN C261F Disease LDLR_HUMAN D342N Disease LDLR_HUMAN E288K Disease LDLR_HUMAN L414R Disease LDLR_HUMAN E714K Disease LDLR_HUMAN R78C Disease LDLR_HUMAN R633C Disease LDLR_HUMAN C248Y Disease LDLR_HUMAN R814Q Polymorphism LDLR_HUMAN L401V Disease LDLR_HUMAN Q92E Disease LDLR_HUMAN D301A Disease LDLR_HUMAN A399D Disease LDLR_HUMAN V468I Polymorphism LDLR_HUMAN C379Y Disease LDLR_HUMAN C160Y Disease LDLR_HUMAN E277K Disease LDLR_HUMAN C184Y Disease LDLR_HUMAN D90N Disease LDLR_HUMAN C46S Disease LDLR_HUMAN D356Y Disease LDLR_HUMAN C173W Disease LDLR_HUMAN D700E Disease LDLR_HUMAN C329Y Disease LDLR_HUMAN A50S Disease LDLR_HUMAN S56P Disease LDLR_HUMAN C89Y Disease LDLR_HUMAN G2R Polymorphism LDLR_HUMAN C231G Disease LDLR_HUMAN C302W Disease LDLR_HUMAN Q366R Disease LDLR_HUMAN C95G Disease LDLR_HUMAN D168Y Disease LDLR_HUMAN C276Y Disease LDLR_HUMAN R416W Disease LDLR_HUMAN L568V Disease LDLR_HUMAN D168N Disease LDLR_HUMAN I423T Disease LDLR_HUMAN C313Y Disease LDLR_HUMAN C302Y Disease GPR15_HUMAN P37S Polymorphism NR1I3_HUMAN V133G Polymorphism ERCC1_HUMAN A266T Polymorphism IGF1R_HUMAN R605H Polymorphism IGF1R_HUMAN V388M Polymorphism GNRHR_HUMAN R262Q Disease GNRHR_HUMAN S168R Disease GNRHR_HUMAN S217R Disease GNRHR_HUMAN Y284C Disease GNRHR_HUMAN A171T Disease GNRHR_HUMAN N10K Disease GNRHR_HUMAN Q106R Disease GNRHR_HUMAN R139H Disease GNRHR_HUMAN E90K Disease GNRHR_HUMAN A129D Disease LZTS2_HUMAN R299W Polymorphism INSR_HUMAN T937M Disease INSR_HUMAN G58R Disease INSR_HUMAN R113P Disease INSR_HUMAN N489S Disease INSR_HUMAN P220L Disease INSR_HUMAN V1012M Polymorphism INSR_HUMAN L89P Disease INSR_HUMAN R1119W Disease INSR_HUMAN W439S Disease INSR_HUMAN K487E Disease INSR_HUMAN E1206K Disease INSR_HUMAN E1206D Disease INSR_HUMAN R1201W Disease INSR_HUMAN R1201Q Disease INSR_HUMAN F409V Disease INSR_HUMAN C280Y Disease INSR_HUMAN A1055V Disease INSR_HUMAN W1227S Disease INSR_HUMAN R1378Q Disease INSR_HUMAN Y1361C Polymorphism INSR_HUMAN R279C Disease INSR_HUMAN M1180I Disease INSR_HUMAN N42K Disease INSR_HUMAN T448I Polymorphism INSR_HUMAN A1161T Disease INSR_HUMAN T858A Disease INSR_HUMAN V55A Disease INSR_HUMAN W1220L Disease INSR_HUMAN R1158W Disease INSR_HUMAN I925T Disease INSR_HUMAN P997T Disease INSR_HUMAN R1158Q Disease INSR_HUMAN G1035V Disease INSR_HUMAN L260P Disease INSR_HUMAN S350L Disease INSR_HUMAN C301Y Disease INSR_HUMAN P1205L Disease INSR_HUMAN G393R Disease INSR_HUMAN R1020Q Disease INSR_HUMAN H236R Disease INSR_HUMAN R762S Disease INSR_HUMAN V167L Disease INSR_HUMAN A1075D Disease INSR_HUMAN D86G Disease INSR_HUMAN R1191Q Disease INSR_HUMAN I146M Disease INSR_HUMAN A1162E Disease INSR_HUMAN R926W Disease INSR_HUMAN K492Q Polymorphism INSR_HUMAN A119V Disease INSR_HUMAN I1143T Disease INSR_HUMAN I1023F Polymorphism TBG2_HUMAN M413V Polymorphism ARSE_HUMAN I80N Disease ARSE_HUMAN R111P Disease ARSE_HUMAN P578S Disease ARSE_HUMAN G137V Disease ARSE_HUMAN C492Y Disease ARSE_HUMAN G245R Disease ARSE_HUMAN G117R Disease ARSE_HUMAN R12S Disease ARSE_HUMAN T481M Disease XLRS1_HUMAN E72K Disease XLRS1_HUMAN P192S Disease XLRS1_HUMAN A98E Disease XLRS1_HUMAN G109E Disease XLRS1_HUMAN R200C Disease XLRS1_HUMAN E72D Disease XLRS1_HUMAN G109R Disease XLRS1_HUMAN P192R Disease XLRS1_HUMAN R197H Disease XLRS1_HUMAN G109W Disease XLRS1_HUMAN W112C Disease XLRS1_HUMAN E146K Disease XLRS1_HUMAN R197C Disease XLRS1_HUMAN E215Q Disease XLRS1_HUMAN I136T Disease XLRS1_HUMAN G74V Disease XLRS1_HUMAN L127P Disease XLRS1_HUMAN Y89C Disease XLRS1_HUMAN L12H Disease XLRS1_HUMAN C110Y Disease XLRS1_HUMAN C59S Disease XLRS1_HUMAN L113F Disease XLRS1_HUMAN K222N Polymorphism XLRS1_HUMAN R141C Disease XLRS1_HUMAN P193L Disease XLRS1_HUMAN G178D Disease XLRS1_HUMAN E215K Disease XLRS1_HUMAN D143V Disease XLRS1_HUMAN P193S Disease XLRS1_HUMAN H207Q Disease XLRS1_HUMAN R102W Disease XLRS1_HUMAN W163C Disease XLRS1_HUMAN T138A Disease XLRS1_HUMAN R200H Disease XLRS1_HUMAN L103R Disease XLRS1_HUMAN G140R Disease XLRS1_HUMAN I199T Disease XLRS1_HUMAN R102Q Disease XLRS1_HUMAN L216P Disease XLRS1_HUMAN R182C Disease XLRS1_HUMAN R213W Disease XLRS1_HUMAN F108C Disease XLRS1_HUMAN C142W Disease XLRS1_HUMAN W96R Disease XLRS1_HUMAN E146D Disease XLRS1_HUMAN G140E Disease XLRS1_HUMAN C219G Disease XLRS1_HUMAN Y155C Disease XLRS1_HUMAN G135V Disease XLRS1_HUMAN G70A Disease XLRS1_HUMAN L13P Disease XLRS1_HUMAN D158N Polymorphism XLRS1_HUMAN Y65C Disease XLRS1_HUMAN R141G Disease XLRS1_HUMAN C223R Disease XLRS1_HUMAN P203L Disease XLRS1_HUMAN R141H Disease XLRS1_HUMAN C219R Disease XLRS1_HUMAN R209H Disease XLRS1_HUMAN G70S Disease INGR1_HUMAN I87T Disease INGR1_HUMAN C77Y Disease INGR1_HUMAN H335P Polymorphism INGR1_HUMAN L467P Polymorphism INGR1_HUMAN V61I Polymorphism CC14B_HUMAN I341T Polymorphism CC14B_HUMAN I302T Polymorphism VKOR1_HUMAN R58G Disease VKOR1_HUMAN V45A Disease VKOR1_HUMAN L128R Disease VKOR1_HUMAN V29L Disease VKOR1_HUMAN R98W Disease BTBDC_HUMAN A538V Polymorphism BTBDC_HUMAN P439L Polymorphism BTBDC_HUMAN S588F Polymorphism HSPB2_HUMAN G111S Polymorphism IC1_HUMAN T467P Disease IC1_HUMAN P498S Disease IC1_HUMAN R466S Disease IC1_HUMAN A465V Disease IC1_HUMAN A458T Disease IC1_HUMAN G429R Disease IC1_HUMAN A458V Disease IC1_HUMAN V473M Disease IC1_HUMAN L481R Disease IC1_HUMAN L481P Disease IC1_HUMAN T308S Polymorphism IC1_HUMAN V480M Polymorphism IC1_HUMAN V454E Disease IC1_HUMAN R466C Disease IC1_HUMAN Q474E Polymorphism IC1_HUMAN A456E Disease IC1_HUMAN P489R Disease IC1_HUMAN R466L Disease IC1_HUMAN F477S Disease IC1_HUMAN R466H Disease CDC7_HUMAN F162L Polymorphism CDC7_HUMAN I99V Polymorphism CDC7_HUMAN Q23P Polymorphism CDC7_HUMAN G112W Polymorphism CDC7_HUMAN K441R Polymorphism BNIP2_HUMAN S24T Polymorphism RAI3_HUMAN S118G Polymorphism PERL_HUMAN R514Q Polymorphism PERL_HUMAN R414Q Polymorphism PERL_HUMAN V421M Polymorphism PERL_HUMAN A244T Polymorphism PERL_HUMAN D700N Polymorphism PERL_HUMAN I614T Polymorphism PERL_HUMAN T105I Polymorphism MJD1_HUMAN M212V Polymorphism RO52_HUMAN G96R Polymorphism RO52_HUMAN E231K Polymorphism RO52_HUMAN P52A Polymorphism UT1_HUMAN E44K Polymorphism UT1_HUMAN D280N Polymorphism CNGB3_HUMAN S435F Disease CNGB3_HUMAN E755G Polymorphism CNGB3_HUMAN W234C Polymorphism CNGB3_HUMAN T298P Polymorphism FGD1_HUMAN R443H Disease FGD1_HUMAN R522H Disease FGD1_HUMAN P312L Disease FGD1_HUMAN E380A Disease FGD1_HUMAN R610Q Disease FGD1_HUMAN S205I Disease UBP47_HUMAN V163G Polymorphism SERB_HUMAN M52T Disease SERB_HUMAN D32N Disease STAT4_HUMAN I115V Polymorphism AT5F1_HUMAN T152N Polymorphism CP2D6_HUMAN P34S Polymorphism CP2D6_HUMAN R26H Polymorphism CP2D6_HUMAN R343G Polymorphism CP2D6_HUMAN G42R Polymorphism CP2D6_HUMAN I369T Polymorphism CP2D6_HUMAN E410K Polymorphism CP2D6_HUMAN G169R Polymorphism CP2D6_HUMAN R296C Polymorphism CP2D6_HUMAN S486T Polymorphism CP2D6_HUMAN V11M Polymorphism CP2D6_HUMAN H324P Polymorphism CP2D6_HUMAN A237S Polymorphism CP2D6_HUMAN I297L Polymorphism CP2D6_HUMAN G212E Polymorphism CP2D6_HUMAN T107I Polymorphism CP2D6_HUMAN R28C Polymorphism CP2D6_HUMAN S311L Polymorphism CP2D6_HUMAN A85V Polymorphism OSTP_HUMAN R301H Polymorphism DMC1_HUMAN M200V Polymorphism SUMO4_HUMAN M55V Polymorphism NGF_HUMAN V35A Polymorphism TNAP2_HUMAN E282Q Polymorphism TNAP2_HUMAN T565I Polymorphism TNAP2_HUMAN T580M Polymorphism CRYAA_HUMAN R116C Disease THAS_HUMAN I331T Polymorphism THAS_HUMAN A429T Polymorphism THAS_HUMAN G389V Polymorphism THAS_HUMAN L356V Polymorphism THAS_HUMAN D160E Polymorphism THAS_HUMAN E449K Polymorphism THAS_HUMAN Q416E Polymorphism THAS_HUMAN V124I Polymorphism THAS_HUMAN Q316K Polymorphism THAS_HUMAN T450N Polymorphism THAS_HUMAN L162I Polymorphism THAS_HUMAN R260G Polymorphism THAS_HUMAN K257E Polymorphism THAS_HUMAN E388K Polymorphism THAS_HUMAN R465Q Polymorphism THAS_HUMAN R60H Polymorphism THAS_HUMAN R501Q Polymorphism THAS_HUMAN R424C Polymorphism THAS_HUMAN N245S Polymorphism CCND3_HUMAN P134S Polymorphism CCND3_HUMAN S259A Polymorphism GTSE1_HUMAN S470L Polymorphism CD8A_HUMAN G111S Disease 5HT1E_HUMAN A208T Polymorphism 5HT1E_HUMAN S262F Polymorphism CTF1_HUMAN A92T Polymorphism KCC1G_HUMAN V329I Polymorphism K1C14_HUMAN R124G Disease K1C14_HUMAN R124C Disease K1C14_HUMAN N122S Disease K1C14_HUMAN R124H Disease K1C14_HUMAN L407M Disease K1C14_HUMAN R124S Disease K1C14_HUMAN N122K Disease K1C14_HUMAN L418Q Disease K1C14_HUMAN K115N Disease K1C14_HUMAN M271R Disease K1C14_HUMAN R387C Disease K1C14_HUMAN A412T Disease K1C14_HUMAN D272G Disease K1C14_HUMAN L121F Disease K1C14_HUMAN Q119R Disease K1C14_HUMAN Y128D Disease K1C14_HUMAN A93T Polymorphism K1C14_HUMAN A246D Disease K1C14_HUMAN L129P Disease K1C14_HUMAN L383P Disease K1C14_HUMAN I376N Disease K1C14_HUMAN E143A Disease K1C14_HUMAN A273D Disease K1C14_HUMAN E421K Disease K1C14_HUMAN V269M Disease K1C14_HUMAN L142P Disease K1C14_HUMAN V132L Disease K1C14_HUMAN M118V Disease K1C14_HUMAN M118T Disease K1C14_HUMAN Y414H Disease PSARL_HUMAN L262V Polymorphism K2C8_HUMAN G52V Disease K2C8_HUMAN Y53C Disease K2C8_HUMAN I62V Polymorphism K2C8_HUMAN G61C Disease SETX_HUMAN R2136H Disease SETX_HUMAN R332W Disease SETX_HUMAN P1331L Polymorphism SETX_HUMAN A660G Polymorphism SETX_HUMAN F1756S Disease SETX_HUMAN P413L Disease SETX_HUMAN T3I Disease SETX_HUMAN F1152C Polymorphism SETX_HUMAN S2612G Polymorphism SETX_HUMAN E1192D Polymorphism SETX_HUMAN W305C Disease SETX_HUMAN T1855A Polymorphism SETX_HUMAN I2587V Polymorphism SETX_HUMAN P2213L Disease SETX_HUMAN R1252G Polymorphism SETX_HUMAN L389S Disease SETX_HUMAN V1386I Polymorphism SETX_HUMAN P1061L Polymorphism RAD51_HUMAN R150Q Disease NET4_HUMAN Y205H Polymorphism MAP4_HUMAN S427Y Polymorphism MAP4_HUMAN E441Q Polymorphism PODO_HUMAN G92C Disease PODO_HUMAN R138Q Disease PODO_HUMAN V180M Disease PODO_HUMAN R291W Disease PODO_HUMAN D160G Disease PODO_HUMAN P20L Disease AAKG2_HUMAN R302Q Disease AAKG2_HUMAN H383R Disease AAKG2_HUMAN T400N Disease AAKG2_HUMAN N488I Disease AAKG2_HUMAN R531G Disease CRX_HUMAN A158T Polymorphism CRX_HUMAN R41Q Disease CRX_HUMAN V242M Disease CRX_HUMAN R41W Disease CRX_HUMAN G122D Disease CRX_HUMAN E80A Disease KI3L3_HUMAN I168V Polymorphism KCNE3_HUMAN R83H Disease SMCA1_HUMAN R578Q Polymorphism CP1A2_HUMAN G298S Polymorphism CP1A2_HUMAN S211C Polymorphism CP1A2_HUMAN C405Y Polymorphism CP1A2_HUMAN S17C Polymorphism CP1A2_HUMAN E167Q Polymorphism CP1A2_HUMAN T437I Polymorphism CP1A2_HUMAN D347N Polymorphism CP1A2_HUMAN T82M Polymorphism CP1A2_HUMAN F20L Polymorphism CP1A2_HUMAN F185L Polymorphism CP1A2_HUMAN I385F Polymorphism CP1A2_HUMAN R430W Polymorphism STYK1_HUMAN G204S Polymorphism DERL3_HUMAN A211V Polymorphism ENPP7_HUMAN P4L Polymorphism K0853_HUMAN E1429D Polymorphism PPE2_HUMAN S120R Polymorphism TRI50_HUMAN L8P Polymorphism ENOB_HUMAN N70S Polymorphism ENOB_HUMAN V84A Polymorphism CAN6_HUMAN V277L Polymorphism DRD1_HUMAN T37R Polymorphism DRD1_HUMAN S199A Polymorphism DRD1_HUMAN R50S Polymorphism DRD1_HUMAN T37P Polymorphism CPN2_HUMAN V536M Polymorphism CPN2_HUMAN W509R Polymorphism CPN2_HUMAN A305T Polymorphism SSRA_HUMAN L28S Polymorphism GRAP2_HUMAN L319F Polymorphism UNC5C_HUMAN T721M Polymorphism UNC5C_HUMAN G37V Polymorphism IF_HUMAN N255S Polymorphism IF_HUMAN S46L Disease IF_HUMAN Q23R Disease S23IP_HUMAN K644E Polymorphism TXND2_HUMAN A461T Polymorphism TXND2_HUMAN K341E Polymorphism TXND2_HUMAN R487T Polymorphism TXND2_HUMAN D357G Polymorphism CCR5_HUMAN S215L Polymorphism CCR5_HUMAN L55Q Polymorphism CCR5_HUMAN A29S Polymorphism CCR5_HUMAN A335V Polymorphism CCR5_HUMAN I12L Polymorphism CCR5_HUMAN R223Q Polymorphism CCR5_HUMAN C20S Polymorphism CCR5_HUMAN G301V Polymorphism CCR5_HUMAN A73V Polymorphism CCR5_HUMAN Y339F Polymorphism CCR5_HUMAN R60S Polymorphism CCR5_HUMAN I42F Polymorphism COCH_HUMAN P532S Polymorphism COCH_HUMAN W117R Disease COCH_HUMAN G88E Disease COCH_HUMAN P51S Disease COCH_HUMAN D281N Polymorphism COCH_HUMAN G135R Polymorphism COCH_HUMAN I109N Disease COCH_HUMAN A119T Disease COCH_HUMAN T352S Polymorphism COCH_HUMAN I402V Polymorphism COCH_HUMAN V66G Disease DRD5_HUMAN N351D Polymorphism DRD5_HUMAN A269V Polymorphism DRD5_HUMAN L88R Polymorphism DRD5_HUMAN P330Q Polymorphism DRD5_HUMAN S453C Polymorphism XK_HUMAN E327K Disease XK_HUMAN R222G Disease XK_HUMAN C294R Disease RDH12_HUMAN L99I Disease RDH12_HUMAN P230A Disease RDH12_HUMAN T49M Disease RDH12_HUMAN H151D Disease RDH12_HUMAN Y226C Disease RDH12_HUMAN H151N Disease RDH12_HUMAN I51N Disease RDH12_HUMAN S175P Disease CP26C_HUMAN R245Q Polymorphism WNT2_HUMAN R299W Polymorphism WNT2_HUMAN L5R Polymorphism VPS4B_HUMAN I58M Polymorphism IL3RB_HUMAN G647V Polymorphism IL3RB_HUMAN V652M Polymorphism IL3RB_HUMAN P603T Disease ABEC1_HUMAN I80M Polymorphism RAG2_HUMAN C41W Disease RAG2_HUMAN C478Y Disease RAG2_HUMAN R229Q Disease RAG2_HUMAN M285R Disease FOSB_HUMAN G33S Polymorphism CO7_HUMAN R220Q Disease CO7_HUMAN R687H Disease CO7_HUMAN K420Q Polymorphism CO7_HUMAN E682Q Disease CO7_HUMAN R521S Disease CO7_HUMAN G379R Disease ZNF42_HUMAN I331V Polymorphism TMPS3_HUMAN A426T Polymorphism TMPS3_HUMAN I253V Polymorphism TMPS3_HUMAN D173N Polymorphism TMPS3_HUMAN G111S Polymorphism TMPS3_HUMAN V53I Polymorphism EXT1_HUMAN R340C Disease EXT1_HUMAN R280G Disease EXT1_HUMAN D164H Disease EXT1_HUMAN R340L Disease EXT1_HUMAN P496L Disease EXT1_HUMAN R340H Disease EXT1_HUMAN G339D Disease EXT1_HUMAN A486V Disease EXT1_HUMAN R280S Disease EXT1_HUMAN Q27K Disease EXT1_HUMAN R340S Disease EXT1_HUMAN N316S Disease CTNS_HUMAN K292R Disease CTNS_HUMAN L338P Disease CTNS_HUMAN G169D Disease CTNS_HUMAN N323K Disease CTNS_HUMAN L158P Disease CTNS_HUMAN W182R Disease CTNS_HUMAN D205N Disease CTNS_HUMAN S139F Disease CTNS_HUMAN D346N Disease CTNS_HUMAN G308R Disease CTNS_HUMAN K280R Disease CTNS_HUMAN G197R Disease CTNS_HUMAN D305G Disease CTNS_HUMAN I133F Disease CTNS_HUMAN G339R Disease CTNS_HUMAN S298N Disease CTNS_HUMAN V42I Disease CTNS_HUMAN D305Y Disease ARNT_HUMAN P706L Polymorphism ARNT_HUMAN D517E Polymorphism ARNT_HUMAN D511N Polymorphism HOOK2_HUMAN H488Q Polymorphism HOOK2_HUMAN G10R Polymorphism PAX9_HUMAN G51S Disease GRN_HUMAN G515A Polymorphism HBG1_HUMAN I75T Polymorphism PZP_HUMAN V691M Polymorphism PZP_HUMAN V813A Polymorphism FLRT3_HUMAN H400Q Polymorphism TMIE_HUMAN R84W Disease TMIE_HUMAN R81C Disease TMIE_HUMAN R92W Disease DAOA_HUMAN K30R Polymorphism ATS5_HUMAN R614H Polymorphism PROP_HUMAN P204L Polymorphism PROP_HUMAN G250S Polymorphism PROP_HUMAN G298V Disease PROP_HUMAN V53M Polymorphism PROP_HUMAN R100W Disease PROP_HUMAN Y414D Disease PROP_HUMAN Q343R Disease PRKDC_HUMAN G1314V Polymorphism PRKDC_HUMAN I3434T Polymorphism PRKDC_HUMAN M3932V Polymorphism PRKDC_HUMAN P3201S Polymorphism PRKDC_HUMAN N3459S Polymorphism PRKDC_HUMAN A2095V Polymorphism PRKDC_HUMAN R2899C Polymorphism PRKDC_HUMAN G3149D Polymorphism PRKDC_HUMAN P695S Polymorphism PRKDC_HUMAN T605S Polymorphism PRKDC_HUMAN L3562M Polymorphism PRKDC_HUMAN A6S Polymorphism PRKDC_HUMAN P3836L Polymorphism PRKDC_HUMAN N1071S Polymorphism PRKDC_HUMAN G3404E Polymorphism PRKDC_HUMAN M333I Polymorphism PRKDC_HUMAN Q1603H Polymorphism PRKDC_HUMAN I680M Polymorphism PRKDC_HUMAN D1588V Polymorphism PRKDC_HUMAN K2702E Polymorphism DHSA_HUMAN R554W Disease DHSA_HUMAN G555E Disease DHSA_HUMAN A524V Disease NOTC3_HUMAN C212S Disease NOTC3_HUMAN H170R Polymorphism NOTC3_HUMAN R1006C Disease NOTC3_HUMAN R985C Disease NOTC3_HUMAN V1183M Polymorphism NOTC3_HUMAN C185R Disease NOTC3_HUMAN C1261R Disease NOTC3_HUMAN R1031C Disease NOTC3_HUMAN C224Y Disease NOTC3_HUMAN W71C Disease NOTC3_HUMAN C222G Disease NOTC3_HUMAN C49Y Disease NOTC3_HUMAN R578C Disease NOTC3_HUMAN R133C Disease NOTC3_HUMAN R728C Disease NOTC3_HUMAN C542Y Disease NOTC3_HUMAN H1133Q Polymorphism NOTC3_HUMAN R90C Disease NOTC3_HUMAN R110C Disease NOTC3_HUMAN R182C Disease NOTC3_HUMAN Y258C Disease NOTC3_HUMAN R558C Disease NOTC3_HUMAN G171C Disease NOTC3_HUMAN V2223A Polymorphism NOTC3_HUMAN R1231C Disease NOTC3_HUMAN R141C Disease NOTC3_HUMAN C146R Disease NOTC3_HUMAN P496L Polymorphism NOTC3_HUMAN R169C Disease NOTC3_HUMAN R153C Disease ULA4_HUMAN R17C Polymorphism ULA4_HUMAN H257R Polymorphism PAR3L_HUMAN L165P Polymorphism PAR3L_HUMAN R192K Polymorphism PAR3L_HUMAN Q295K Polymorphism DKKL1_HUMAN M109R Polymorphism DKKL1_HUMAN E214K Polymorphism OS9_HUMAN R398W Polymorphism EGLN_HUMAN C53R Disease EGLN_HUMAN G52V Disease EGLN_HUMAN W149C Disease EGLN_HUMAN D366H Polymorphism EGLN_HUMAN L306P Disease EGLN_HUMAN A160D Disease EGLN_HUMAN T5M Polymorphism EGLN_HUMAN L221P Disease BPI_HUMAN V12A Polymorphism BPI_HUMAN A192V Polymorphism BPI_HUMAN K212E Polymorphism MBD4_HUMAN D568H Polymorphism MBD4_HUMAN I358T Polymorphism MBD4_HUMAN E346K Polymorphism MBD4_HUMAN A273S Polymorphism MBD4_HUMAN A273T Polymorphism MBD4_HUMAN S342P Polymorphism CENG1_HUMAN G171S Polymorphism SPG16_HUMAN Q361H Polymorphism SPG16_HUMAN T425K Polymorphism GPR10_HUMAN V283I Polymorphism ARL3_HUMAN L34M Polymorphism TRI31_HUMAN R118C Polymorphism TRI31_HUMAN V232I Polymorphism TRI31_HUMAN E421K Polymorphism KPYR_HUMAN R163C Disease KPYR_HUMAN Q421K Disease KPYR_HUMAN G332S Disease KPYR_HUMAN S376I Disease KPYR_HUMAN A394D Disease KPYR_HUMAN A295V Disease KPYR_HUMAN R479H Disease KPYR_HUMAN R486W Disease KPYR_HUMAN A394V Disease KPYR_HUMAN R86P Disease KPYR_HUMAN T408A Disease KPYR_HUMAN A336S Disease KPYR_HUMAN T408I Disease KPYR_HUMAN G557A Disease KPYR_HUMAN I153T Disease KPYR_HUMAN D390N Disease KPYR_HUMAN A392T Disease KPYR_HUMAN G275R Disease KPYR_HUMAN D281N Disease KPYR_HUMAN V506I Polymorphism KPYR_HUMAN N393K Disease KPYR_HUMAN R385W Disease KPYR_HUMAN S120F Disease KPYR_HUMAN G458D Disease KPYR_HUMAN M107T Disease KPYR_HUMAN D339H Disease KPYR_HUMAN V460M Disease KPYR_HUMAN N393S Disease KPYR_HUMAN E387G Disease KPYR_HUMAN G37E Disease KPYR_HUMAN R531C Disease KPYR_HUMAN V134D Disease KPYR_HUMAN I357T Disease KPYR_HUMAN I219T Disease KPYR_HUMAN D293N Disease KPYR_HUMAN R426Q Disease KPYR_HUMAN E172Q Disease KPYR_HUMAN R426W Disease KPYR_HUMAN S485F Disease KPYR_HUMAN A468G Disease KPYR_HUMAN R498H Disease KPYR_HUMAN G95R Disease KPYR_HUMAN A431T Disease KPYR_HUMAN R498C Disease KPYR_HUMAN V552M Disease KPYR_HUMAN A468V Disease KPYR_HUMAN L155P Disease KPYR_HUMAN R569Q Disease KPYR_HUMAN R337P Disease KPYR_HUMAN R337Q Disease KPYR_HUMAN R559G Disease KPYR_HUMAN G341D Disease KPYR_HUMAN G364D Disease KPYR_HUMAN G341A Disease KPYR_HUMAN G222A Disease KPYR_HUMAN R490W Disease KPYR_HUMAN V335M Disease KPYR_HUMAN G263R Disease KPYR_HUMAN G263W Disease KPYR_HUMAN I310N Disease KPYR_HUMAN R359C Disease KPYR_HUMAN A459V Disease KPYR_HUMAN S80P Disease KPYR_HUMAN D331E Disease KPYR_HUMAN N361D Disease KPYR_HUMAN A352D Disease KPYR_HUMAN D331N Disease KPYR_HUMAN T477A Disease KPYR_HUMAN F287V Disease KPYR_HUMAN A495V Disease KPYR_HUMAN K348N Disease KPYR_HUMAN A495T Disease KPYR_HUMAN E427D Disease KPYR_HUMAN E427A Disease KPYR_HUMAN R532Q Disease KPYR_HUMAN G159V Disease KPYR_HUMAN R532W Disease KPYR_HUMAN V288L Disease KPYR_HUMAN R488Q Disease KPYR_HUMAN R504L Disease KPYR_HUMAN I314T Disease KPYR_HUMAN E315K Disease KPYR_HUMAN N566K Disease KPYR_HUMAN R359H Disease KPYR_HUMAN I342F Disease KPYR_HUMAN I90N Disease KPYR_HUMAN S130Y Disease KPYR_HUMAN G511R Disease KPYR_HUMAN A115P Disease KPYR_HUMAN G111R Disease KPYR_HUMAN R510Q Disease KPYR_HUMAN T384M Disease KPYR_HUMAN V368F Disease MGAT2_HUMAN H262R Disease MGAT2_HUMAN N318D Disease MGAT2_HUMAN S290F Disease ZN291_HUMAN P1088T Polymorphism GDF5_HUMAN L441P Disease NKG2F_HUMAN S29I Polymorphism NKG2F_HUMAN S104N Polymorphism LASS4_HUMAN G301S Polymorphism LASS4_HUMAN A366T Polymorphism CAD12_HUMAN E86K Polymorphism IRF3_HUMAN E377K Polymorphism IRF3_HUMAN R96Q Polymorphism IRF3_HUMAN S427T Polymorphism RX_HUMAN D44E Polymorphism ZFP91_HUMAN S207G Polymorphism MPRI_HUMAN A724T Polymorphism MPRI_HUMAN R1832H Polymorphism MPRI_HUMAN G1860D Polymorphism MPRI_HUMAN R529Q Polymorphism MPRI_HUMAN G1619R Polymorphism MPRI_HUMAN L252V Polymorphism MPRI_HUMAN R91H Polymorphism MPRI_HUMAN L817V Polymorphism MPRI_HUMAN T1107M Polymorphism MPRI_HUMAN G604S Polymorphism MPRI_HUMAN N2020S Polymorphism MPRI_HUMAN V1124I Polymorphism MPRI_HUMAN I1908M Polymorphism MPRI_HUMAN G1315E Polymorphism MPRI_HUMAN T1184S Polymorphism MPRI_HUMAN G231D Polymorphism MPRI_HUMAN K512Q Polymorphism MPRI_HUMAN R1335H Polymorphism MPRI_HUMAN G856S Polymorphism MPRI_HUMAN P203L Polymorphism MPRI_HUMAN A2459V Polymorphism MPRI_HUMAN D273G Polymorphism ICLN_HUMAN Q20H Polymorphism ICLN_HUMAN M218T Polymorphism FA26C_HUMAN L86P Polymorphism CO9_HUMAN C119G Disease CO9_HUMAN R5W Polymorphism DPP3_HUMAN R678H Polymorphism CELR3_HUMAN S805T Polymorphism CELR3_HUMAN A157P Polymorphism FA8_HUMAN R1888I Disease FA8_HUMAN S189L Disease FA8_HUMAN E1904K Disease FA8_HUMAN L644V Disease FA8_HUMAN V2242M Polymorphism FA8_HUMAN H1867R Disease FA8_HUMAN S2088F Disease FA8_HUMAN S2138Y Disease FA8_HUMAN F2120L Disease FA8_HUMAN G2344C Disease FA8_HUMAN R2182C Disease FA8_HUMAN Q2265R Disease FA8_HUMAN G2107S Disease FA8_HUMAN N631S Disease FA8_HUMAN G1869V Disease FA8_HUMAN T294I Disease FA8_HUMAN T137I Disease FA8_HUMAN D561Y Disease FA8_HUMAN C348S Disease FA8_HUMAN C348R Disease FA8_HUMAN C2193G Disease FA8_HUMAN N2148S Disease FA8_HUMAN Y1728C Disease FA8_HUMAN C348Y Disease FA8_HUMAN N631K Disease FA8_HUMAN N254I Disease FA8_HUMAN L1481P Polymorphism FA8_HUMAN V727F Disease FA8_HUMAN S1803Y Disease FA8_HUMAN D1865N Disease FA8_HUMAN E1894G Disease FA8_HUMAN A1853V Disease FA8_HUMAN E30V Disease FA8_HUMAN Y133C Disease FA8_HUMAN L431F Disease FA8_HUMAN D222V Disease FA8_HUMAN N2038S Disease FA8_HUMAN R2135P Disease FA8_HUMAN E129V Disease FA8_HUMAN G41C Disease FA8_HUMAN I2051S Disease FA8_HUMAN R2182H Disease FA8_HUMAN A723T Disease FA8_HUMAN Y1699C Disease FA8_HUMAN G1942A Disease FA8_HUMAN E72K Disease FA8_HUMAN G439V Disease FA8_HUMAN T314I Disease FA8_HUMAN L1963P Disease FA8_HUMAN T2173I Disease FA8_HUMAN G439S Disease FA8_HUMAN Q584K Disease FA8_HUMAN R1715G Disease FA8_HUMAN E291G Disease FA8_HUMAN S202R Disease FA8_HUMAN K185T Disease FA8_HUMAN V253F Disease FA8_HUMAN F312S Disease FA8_HUMAN R2169H Disease FA8_HUMAN G1779E Disease FA8_HUMAN G720D Disease FA8_HUMAN L1775F Disease FA8_HUMAN D135G Disease FA8_HUMAN N1941S Disease FA8_HUMAN R391P Disease FA8_HUMAN E1057K Disease FA8_HUMAN R391H Disease FA8_HUMAN G498R Disease FA8_HUMAN L1775V Disease FA8_HUMAN E132D Disease FA8_HUMAN N1941D Disease FA8_HUMAN R391C Disease FA8_HUMAN L117R Disease FA8_HUMAN W2248C Disease FA8_HUMAN L26R Disease FA8_HUMAN R1800C Disease FA8_HUMAN I405S Disease FA8_HUMAN R2323H Disease FA8_HUMAN S554G Disease FA8_HUMAN A488G Disease FA8_HUMAN D75V Polymorphism FA8_HUMAN M2183V Disease FA8_HUMAN R1708H Disease FA8_HUMAN Y155H Disease FA8_HUMAN F1804S Disease FA8_HUMAN L327P Disease FA8_HUMAN P165S Disease FA8_HUMAN E1723K Disease FA8_HUMAN R1708C Disease FA8_HUMAN E409G Disease FA8_HUMAN T2141N Disease FA8_HUMAN D544N Disease FA8_HUMAN R717W Disease FA8_HUMAN Y1699F Disease FA8_HUMAN Y605S Disease FA8_HUMAN Y492H Disease FA8_HUMAN I585T Disease FA8_HUMAN M1842I Disease FA8_HUMAN Y492C Disease FA8_HUMAN G266E Disease FA8_HUMAN S392P Disease FA8_HUMAN H1980Y Disease FA8_HUMAN Y2124C Disease FA8_HUMAN G1967D Disease FA8_HUMAN V345L Disease FA8_HUMAN P2319S Disease FA8_HUMAN P2319L Disease FA8_HUMAN T2105N Disease FA8_HUMAN S392L Disease FA8_HUMAN M699V Disease FA8_HUMAN G89V Disease FA8_HUMAN W604C Disease FA8_HUMAN R1800H Disease FA8_HUMAN Y2036C Disease FA8_HUMAN E739K Disease FA8_HUMAN M2257V Polymorphism FA8_HUMAN K529E Disease FA8_HUMAN R2016W Disease FA8_HUMAN S308L Disease FA8_HUMAN R1800G Disease FA8_HUMAN R550H Disease FA8_HUMAN R550C Disease FA8_HUMAN R550G Disease FA8_HUMAN I2204T Disease FA8_HUMAN G130R Disease FA8_HUMAN R546W Disease FA8_HUMAN P2172R Disease FA8_HUMAN G323E Disease FA8_HUMAN P2172Q Disease FA8_HUMAN G89D Disease FA8_HUMAN W2065R Disease FA8_HUMAN A97P Disease FA8_HUMAN I331V Disease FA8_HUMAN T314A Disease FA8_HUMAN V285G Disease FA8_HUMAN V104D Disease FA8_HUMAN N299I Disease FA8_HUMAN D1865Y Disease FA8_HUMAN S596P Disease FA8_HUMAN I494T Disease FA8_HUMAN A1853T Disease FA8_HUMAN L1808F Disease FA8_HUMAN R2326Q Disease FA8_HUMAN M586V Disease FA8_HUMAN A663V Disease FA8_HUMAN G255V Disease FA8_HUMAN G278R Disease FA8_HUMAN D2093G Disease FA8_HUMAN I567T Disease FA8_HUMAN R2326L Disease FA8_HUMAN V556D Disease FA8_HUMAN P1844S Disease FA8_HUMAN D2307A Disease FA8_HUMAN K444R Disease FA8_HUMAN S577F Disease FA8_HUMAN R301L Disease FA8_HUMAN G1769R Disease FA8_HUMAN G224W Disease FA8_HUMAN Y450N Disease FA8_HUMAN V181E Disease FA8_HUMAN P1873R Disease FA8_HUMAN R1960L Disease FA8_HUMAN F677L Disease FA8_HUMAN R48C Disease FA8_HUMAN V181M Disease FA8_HUMAN A2211P Disease FA8_HUMAN R2323C Disease FA8_HUMAN R2228Q Disease FA8_HUMAN S603I Disease FA8_HUMAN G474R Disease FA8_HUMAN V653M Disease FA8_HUMAN D1260E Polymorphism FA8_HUMAN L2185S Disease FA8_HUMAN M1791T Disease FA8_HUMAN V653A Disease FA8_HUMAN R1960Q Disease FA8_HUMAN I2209N Disease FA8_HUMAN R2228G Disease FA8_HUMAN R2178L Disease FA8_HUMAN R612C Disease FA8_HUMAN R2178H Disease FA8_HUMAN M110V Disease FA8_HUMAN T1845P Disease FA8_HUMAN R2228L Disease FA8_HUMAN R2178C Disease FA8_HUMAN V99D Disease FA8_HUMAN G164V Disease FA8_HUMAN G1979V Disease FA8_HUMAN R301H Disease FA8_HUMAN K108T Disease FBN1_HUMAN Y1261C Disease FBN1_HUMAN C2221F Disease FBN1_HUMAN C1265R Disease FBN1_HUMAN C1374S Disease FBN1_HUMAN C1793W Disease FBN1_HUMAN R2282W Disease FBN1_HUMAN C598W Disease FBN1_HUMAN C1249S Disease FBN1_HUMAN C166S Disease FBN1_HUMAN G985E Disease FBN1_HUMAN G985R Disease FBN1_HUMAN W366C Disease FBN1_HUMAN C2663S Disease FBN1_HUMAN C1589F Disease FBN1_HUMAN D1113V Disease FBN1_HUMAN C1631G Disease FBN1_HUMAN C224R Disease FBN1_HUMAN G2618R Disease FBN1_HUMAN C587Y Disease FBN1_HUMAN C177R Disease FBN1_HUMAN C1770F Disease FBN1_HUMAN C1835Y Disease FBN1_HUMAN C1278S Disease FBN1_HUMAN C2339Y Disease FBN1_HUMAN C996R Disease FBN1_HUMAN C1429S Disease FBN1_HUMAN C2489R Disease FBN1_HUMAN D1404Y Disease FBN1_HUMAN I2585T Disease FBN1_HUMAN N548I Disease FBN1_HUMAN G2627R Disease FBN1_HUMAN C2581F Disease FBN1_HUMAN R2335W Disease FBN1_HUMAN C734F Disease FBN1_HUMAN R1790P Disease FBN1_HUMAN N1893K Disease FBN1_HUMAN C2099W Disease FBN1_HUMAN C1153S Disease FBN1_HUMAN T1887I Disease FBN1_HUMAN G2536R Disease FBN1_HUMAN C2151W Disease FBN1_HUMAN C1086W Disease FBN1_HUMAN C816S Disease FBN1_HUMAN Y1101C Disease FBN1_HUMAN C652S Disease FBN1_HUMAN C748Y Disease FBN1_HUMAN C504F Disease FBN1_HUMAN S115C Disease FBN1_HUMAN C1998Y Disease FBN1_HUMAN D723V Disease FBN1_HUMAN R122C Disease FBN1_HUMAN S681Y Disease FBN1_HUMAN C129Y Disease FBN1_HUMAN E2610K Disease FBN1_HUMAN C685W Disease FBN1_HUMAN D1072G Disease FBN1_HUMAN D490Y Disease FBN1_HUMAN G1013R Disease FBN1_HUMAN R636I Disease FBN1_HUMAN C1971Y Disease FBN1_HUMAN N1131Y Disease FBN1_HUMAN G2668C Disease FBN1_HUMAN G1475S Disease FBN1_HUMAN C1610G Disease FBN1_HUMAN G1475E Disease FBN1_HUMAN C1171W Disease FBN1_HUMAN C476G Disease FBN1_HUMAN W217G Disease FBN1_HUMAN D654N Disease FBN1_HUMAN C1928R Disease FBN1_HUMAN C2038Y Disease FBN1_HUMAN E913G Disease FBN1_HUMAN Y635C Disease FBN1_HUMAN C1928Y Disease FBN1_HUMAN C1928G Disease FBN1_HUMAN C781R Disease FBN1_HUMAN R1530C Disease FBN1_HUMAN C1876Y Disease FBN1_HUMAN C781Y Disease FBN1_HUMAN N2223H Disease FBN1_HUMAN A1337P Disease FBN1_HUMAN G560S Disease FBN1_HUMAN C2511R Disease FBN1_HUMAN C1055G Disease FBN1_HUMAN D1155N Disease FBN1_HUMAN C2535W Disease FBN1_HUMAN C1117G Disease FBN1_HUMAN R114C Disease FBN1_HUMAN R2680C Disease FBN1_HUMAN C1117Y Disease FBN1_HUMAN E1073K Disease FBN1_HUMAN A2160P Disease FBN1_HUMAN C111R Disease FBN1_HUMAN C2442W Disease FBN1_HUMAN C1055Y Disease FBN1_HUMAN C1389R Disease FBN1_HUMAN P1148A Polymorphism FBN1_HUMAN R627C Disease FBN1_HUMAN C683R Disease FBN1_HUMAN A2385T Disease FBN1_HUMAN I2269T Disease FBN1_HUMAN C89F Disease FBN1_HUMAN C2307S Disease FBN1_HUMAN N1382S Disease FBN1_HUMAN C596Y Disease FBN1_HUMAN H2623P Disease FBN1_HUMAN C1806S Disease FBN1_HUMAN P1424A Disease FBN1_HUMAN C1806Y Disease FBN1_HUMAN R545C Disease FBN1_HUMAN C2221G Disease FBN1_HUMAN A705T Disease FBN1_HUMAN C1153Y Disease FBN1_HUMAN V984I Disease FBN1_HUMAN C1055W Disease FBN1_HUMAN C1402R Disease FBN1_HUMAN C541Y Disease FBN1_HUMAN R62C Disease FBN1_HUMAN C2500Y Disease FBN1_HUMAN C2221S Disease FBN1_HUMAN C2500R Disease FBN1_HUMAN E1200G Disease FBN1_HUMAN C2251R Disease FBN1_HUMAN C1895R Disease FBN1_HUMAN C1044Y Disease FBN1_HUMAN R439G Disease FBN1_HUMAN D2127E Disease FBN1_HUMAN C921G Disease FBN1_HUMAN C711Y Disease FBN1_HUMAN N2144S Disease FBN1_HUMAN I1048T Disease FBN1_HUMAN C908R Disease FBN1_HUMAN T2101M Polymorphism FBN1_HUMAN C1333S Disease FBN1_HUMAN C1284G Disease FBN1_HUMAN P1837S Disease FBN1_HUMAN C661R Disease FBN1_HUMAN C2085R Disease FBN1_HUMAN R1137P Disease FBN1_HUMAN Y20C Disease FBN1_HUMAN C1053R Disease FBN1_HUMAN G1796E Disease FBN1_HUMAN C832Y Disease FBN1_HUMAN R1915S Disease FBN1_HUMAN R2726W Disease FBN1_HUMAN C2592S Disease FBN1_HUMAN C1977Y Disease FBN1_HUMAN C776Y Disease FBN1_HUMAN C2258R Disease FBN1_HUMAN C776G Disease FBN1_HUMAN C1663Y Disease FBN1_HUMAN A27T Polymorphism FBN1_HUMAN G592D Disease FBN1_HUMAN C154S Disease FBN1_HUMAN C862R Disease FBN1_HUMAN C1339Y Disease FBN1_HUMAN C1791R Disease FBN1_HUMAN Y2629C Disease FBN1_HUMAN C1791Y Disease FBN1_HUMAN E2447K Disease FBN1_HUMAN C1074R Disease FBN1_HUMAN I1909T Disease FBN1_HUMAN C2605Y Disease FBN1_HUMAN C750G Disease FBN1_HUMAN C166F Disease FBN1_HUMAN K1043R Disease FBN1_HUMAN C2605R Disease FBN1_HUMAN N1173K Disease FBN1_HUMAN Y2474C Disease FBN1_HUMAN C926R Disease FBN1_HUMAN Y1261D Disease FBN1_HUMAN C1129Y Disease FBN1_HUMAN D723A Disease FBN1_HUMAN P1424S Disease FBN1_HUMAN C628K Disease FBN1_HUMAN C2111R Disease FBN1_HUMAN C1900Y Disease FBN1_HUMAN E1366K Disease FBN1_HUMAN C2652G Disease FBN1_HUMAN Y1219C Disease FBN1_HUMAN C2111Y Disease FBN1_HUMAN C1833S Disease FBN1_HUMAN E1325Q Disease FBN1_HUMAN C1564F Disease FBN1_HUMAN N2624K Disease FBN1_HUMAN C1223Y Disease FBN1_HUMAN C1242Y Disease FBN1_HUMAN R240C Disease FBN1_HUMAN M1576T Disease FBN1_HUMAN G1058D Disease FBN1_HUMAN C2571R Disease FBN1_HUMAN C1513R Disease FBN1_HUMAN P2154R Disease FBN1_HUMAN Y746C Disease FBN1_HUMAN C1564Y Disease FBN1_HUMAN E2570K Disease FBN1_HUMAN K1023N Disease FBN1_HUMAN C890G Disease FBN1_HUMAN C123Y Disease FBN1_HUMAN C661Y Disease FBN1_HUMAN R1170H Disease FBN1_HUMAN C1663R Disease FBN1_HUMAN C2142Y Disease FBN1_HUMAN C570Y Disease FBN1_HUMAN C890R Disease FBN1_HUMAN C2406Y Disease RON_HUMAN Q322R Polymorphism FGFR1_HUMAN W666R Disease FGFR1_HUMAN R822C Polymorphism FGFR1_HUMAN P772S Disease FGFR1_HUMAN R22S Polymorphism FGFR1_HUMAN V607M Disease FGFR1_HUMAN C277Y Disease FGFR1_HUMAN A167S Disease FGFR1_HUMAN P252R Disease FGFR1_HUMAN M719R Disease FGFR1_HUMAN G97D Disease FGFR1_HUMAN G818R Polymorphism FGFR1_HUMAN Y99C Disease FACD2_HUMAN P714L Polymorphism FACD2_HUMAN R1236H Disease FACD2_HUMAN S126G Disease FACD2_HUMAN R302W Disease GBA3_HUMAN C354R Polymorphism GBA3_HUMAN R213P Polymorphism GBA3_HUMAN D106N Polymorphism TAF10_HUMAN I92T Polymorphism PMYT1_HUMAN V445A Polymorphism PMYT1_HUMAN P417R Polymorphism PMYT1_HUMAN R140C Polymorphism SAHH_HUMAN D85N Polymorphism P34_HUMAN I132L Polymorphism CN152_HUMAN T28A Polymorphism EZRI_HUMAN V531L Polymorphism ZN300_HUMAN Q336H Polymorphism BGAT_HUMAN G35R Polymorphism BGAT_HUMAN R161H Polymorphism BGAT_HUMAN R352W Polymorphism BGAT_HUMAN V36F Polymorphism BGAT_HUMAN V277M Polymorphism BGAT_HUMAN R199C Polymorphism BGAT_HUMAN F216I Polymorphism BGAT_HUMAN P74S Polymorphism BGAT_HUMAN P156L Polymorphism BGAT_HUMAN R63H Polymorphism GALC_HUMAN D171V Disease GALC_HUMAN S52F Disease GALC_HUMAN V550G Disease GALC_HUMAN I289V Polymorphism GALC_HUMAN G95S Disease GALC_HUMAN T452S Disease GALC_HUMAN Y551S Disease GALC_HUMAN T652R Disease GALC_HUMAN P302A Disease GALC_HUMAN Y319C Disease GALC_HUMAN L618S Disease GALC_HUMAN D528N Disease GALC_HUMAN G95D Disease GALC_HUMAN A247T Disease GALC_HUMAN N279T Disease GALC_HUMAN T96A Disease GALC_HUMAN F498S Disease GALC_HUMAN R168C Polymorphism GALC_HUMAN S287F Disease GALC_HUMAN P384L Disease GALC_HUMAN T262I Disease GALC_HUMAN G178A Disease GALC_HUMAN W410G Disease GALC_HUMAN G268S Disease GALC_HUMAN L629R Disease GALC_HUMAN A576S Disease GALC_HUMAN R515C Disease GALC_HUMAN I234T Disease GALC_HUMAN R515H Disease GALC_HUMAN I66M Disease GALC_HUMAN G270D Disease GALC_HUMAN G43R Disease GALC_HUMAN M101L Disease GALC_HUMAN Y298C Disease GALC_HUMAN R380W Disease GALC_HUMAN T513M Disease GALC_HUMAN D232N Polymorphism GALC_HUMAN I546T Polymorphism GALC_HUMAN I583S Disease GALC_HUMAN G537R Disease GALC_HUMAN R63H Disease ADA1A_HUMAN C347R Polymorphism A1AT_HUMAN E400D Polymorphism A1AT_HUMAN G139S Polymorphism A1AT_HUMAN E288V Polymorphism A1AT_HUMAN V237A Polymorphism A1AT_HUMAN A360T Polymorphism PKHD1_HUMAN P3783S Disease PKHD1_HUMAN I3177T Disease PKHD1_HUMAN E3502V Disease PKHD1_HUMAN C1249W Disease PKHD1_HUMAN S1867N Disease PKHD1_HUMAN D2761Y Disease PKHD1_HUMAN I3167L Disease PKHD1_HUMAN I3553T Disease PKHD1_HUMAN I222V Disease PKHD1_HUMAN E3529Q Disease PKHD1_HUMAN V2032L Disease PKHD1_HUMAN P805L Disease PKHD1_HUMAN Y1136C Polymorphism PKHD1_HUMAN T2938M Polymorphism PKHD1_HUMAN I3468V Disease PKHD1_HUMAN Y1838C Disease PKHD1_HUMAN L2772P Disease PKHD1_HUMAN S1833L Disease PKHD1_HUMAN T36M Disease PKHD1_HUMAN S2983L Disease PKHD1_HUMAN Y486H Disease PKHD1_HUMAN P739L Disease PKHD1_HUMAN V1741M Disease PKHD1_HUMAN R3107P Polymorphism PKHD1_HUMAN T1781I Disease PKHD1_HUMAN L1407R Disease PKHD1_HUMAN D1942G Disease PKHD1_HUMAN C2688F Disease PKHD1_HUMAN A2615G Polymorphism PKHD1_HUMAN A1030E Disease PKHD1_HUMAN V732F Polymorphism PKHD1_HUMAN R760C Polymorphism PKHD1_HUMAN P1486L Disease PKHD1_HUMAN F253L Disease PKHD1_HUMAN R496P Disease PKHD1_HUMAN C1204Y Polymorphism PKHD1_HUMAN V3960I Polymorphism PKHD1_HUMAN E3551K Polymorphism PKHD1_HUMAN R760H Disease PKHD1_HUMAN L1709F Polymorphism PKHD1_HUMAN V1789L Disease PKHD1_HUMAN C3346R Disease PKHD1_HUMAN C3622Y Disease PKHD1_HUMAN C2422G Disease PKHD1_HUMAN S2861G Disease PKHD1_HUMAN S3018F Disease PKHD1_HUMAN I2303F Disease PKHD1_HUMAN T752M Polymorphism PKHD1_HUMAN T899P Disease PKHD1_HUMAN T2641A Disease PKHD1_HUMAN I25V Polymorphism PKHD1_HUMAN R3482C Disease PKHD1_HUMAN I473S Disease PKHD1_HUMAN G1122S Disease PKHD1_HUMAN N830S Polymorphism PKHD1_HUMAN R3842L Polymorphism PKHD1_HUMAN Q3899R Polymorphism PKHD1_HUMAN L1870V Polymorphism PKHD1_HUMAN E1995G Disease PKHD1_HUMAN I2957T Disease PKHD1_HUMAN I2331K Disease PKHD1_HUMAN I3081V Disease PKHD1_HUMAN D3088N Polymorphism PKHD1_HUMAN N3175S Disease PKHD1_HUMAN N3175D Disease PKHD1_HUMAN G1123S Disease PKHD1_HUMAN R3143I Polymorphism PKHD1_HUMAN A1150P Polymorphism PKHD1_HUMAN L2134P Disease PKHD1_HUMAN P1389T Disease PKHD1_HUMAN A1262V Polymorphism PKHD1_HUMAN I307T Disease PKHD1_HUMAN G223S Disease PKHD1_HUMAN I1998T Disease PKHD1_HUMAN D3139Y Polymorphism PKHD1_HUMAN D2962G Disease PKHD1_HUMAN Q1917R Disease PKHD1_HUMAN E457D Polymorphism PKHD1_HUMAN A17V Disease PKHD1_HUMAN D3293V Disease PKHD1_HUMAN R1624W Disease PKHD1_HUMAN C1472Y Disease PKHD1_HUMAN R488P Polymorphism PKHD1_HUMAN S1584I Disease PKHD1_HUMAN D703N Disease PKHD1_HUMAN Y2863C Disease PKHD1_HUMAN M997K Disease PKHD1_HUMAN V3440D Polymorphism PKHD1_HUMAN S3505R Polymorphism PKHD1_HUMAN S3289I Polymorphism PKHD1_HUMAN H3124Y Disease PKHD1_HUMAN Q4048R Polymorphism PKHD1_HUMAN G326V Disease PKHD1_HUMAN T579M Polymorphism PKHD1_HUMAN S1664F Disease PKHD1_HUMAN W852R Polymorphism PKHD1_HUMAN W656C Disease PKHD1_HUMAN V3471G Disease PKHD1_HUMAN I757L Disease PKHD1_HUMAN T2869K Polymorphism PKHD1_HUMAN V3036G Disease PKHD1_HUMAN A3072V Polymorphism PKHD1_HUMAN S1283L Polymorphism PKHD1_HUMAN G1971D Disease NADC_HUMAN A158V Polymorphism MDM4_HUMAN I175T Polymorphism MDM4_HUMAN T406I Polymorphism ANGL4_HUMAN T266M Polymorphism MLRV_HUMAN P94A Disease MLRV_HUMAN R57Q Disease MLRV_HUMAN D165V Disease MLRV_HUMAN F17L Disease MLRV_HUMAN A12T Disease MLRV_HUMAN E21K Disease OPTN_HUMAN S216R Polymorphism OPTN_HUMAN E103D Disease OPTN_HUMAN T357P Polymorphism OPTN_HUMAN M98K Polymorphism OPTN_HUMAN E322K Polymorphism OPTN_HUMAN P201S Polymorphism OPTN_HUMAN H486R Disease OPTN_HUMAN R545Q Disease OPTN_HUMAN E50K Disease OPTN_HUMAN H26D Disease ACE_HUMAN T1187M Polymorphism ACE_HUMAN R1286S Polymorphism ACE_HUMAN P351L Polymorphism ACE_HUMAN I1018T Polymorphism ACE_HUMAN R1279Q Polymorphism ACE_HUMAN A261S Polymorphism ACE_HUMAN D592G Polymorphism ACE_HUMAN Y244C Polymorphism ACE_HUMAN F1051V Polymorphism ACE_HUMAN R561W Polymorphism ACE_HUMAN Q1296P Polymorphism ACE_HUMAN T916M Polymorphism EP300_HUMAN S1650Y Disease EP300_HUMAN L827P Disease EP300_HUMAN E1013G Disease EP300_HUMAN I997V Polymorphism EP300_HUMAN P2221Q Disease HS70L_HUMAN T493M Polymorphism STAT3_HUMAN Q32K Polymorphism STAT3_HUMAN M143I Polymorphism PCDGI_HUMAN P684S Polymorphism PCDGI_HUMAN A722T Polymorphism SLAF9_HUMAN L127I Polymorphism CCNA2_HUMAN V163I Polymorphism DMN_HUMAN P761L Polymorphism DMN_HUMAN R1067P Polymorphism DMN_HUMAN S1077L Polymorphism DMN_HUMAN F1462C Polymorphism DMN_HUMAN G1386E Polymorphism DMN_HUMAN A272V Polymorphism DMN_HUMAN P1059L Polymorphism DMN_HUMAN Q976R Polymorphism DMN_HUMAN R338W Polymorphism DMN_HUMAN E612A Polymorphism DMN_HUMAN V330I Polymorphism DMN_HUMAN P567L Polymorphism DMN_HUMAN R946W Polymorphism GSTA4_HUMAN L100P Polymorphism GSTA4_HUMAN T163A Polymorphism WHRN_HUMAN A440T Polymorphism WHRN_HUMAN N796K Polymorphism WHRN_HUMAN T813M Polymorphism WHRN_HUMAN V783A Polymorphism KAD1_HUMAN R128W Disease CLC4A_HUMAN H36L Polymorphism MYOC_HUMAN I477N Disease MYOC_HUMAN Y473C Polymorphism MYOC_HUMAN R422H Disease MYOC_HUMAN R422C Polymorphism MYOC_HUMAN R76K Polymorphism MYOC_HUMAN I465M Disease MYOC_HUMAN Q337R Disease MYOC_HUMAN V495I Polymorphism MYOC_HUMAN I499F Disease MYOC_HUMAN R189Q Polymorphism MYOC_HUMAN I477S Disease MYOC_HUMAN Q19H Polymorphism MYOC_HUMAN P361S Disease MYOC_HUMAN D380G Disease MYOC_HUMAN G364V Disease MYOC_HUMAN V402I Polymorphism MYOC_HUMAN A445V Disease MYOC_HUMAN S203F Polymorphism MYOC_HUMAN R82H Polymorphism MYOC_HUMAN S393R Disease MYOC_HUMAN V329M Polymorphism MYOC_HUMAN V53A Disease MYOC_HUMAN G246R Disease MYOC_HUMAN N480K Disease MYOC_HUMAN S425P Polymorphism MYOC_HUMAN G12R Polymorphism MYOC_HUMAN P481L Disease MYOC_HUMAN R82C Disease MYOC_HUMAN T293K Disease MYOC_HUMAN V426F Disease MYOC_HUMAN P481T Disease MYOC_HUMAN P370L Disease MYOC_HUMAN Y437H Disease MYOC_HUMAN E352K Disease MYOC_HUMAN F4S Polymorphism MYOC_HUMAN T377M Disease MYOC_HUMAN C9S Polymorphism MYOC_HUMAN G367R Disease MYOC_HUMAN K398R Polymorphism MYOC_HUMAN C433R Disease MYOC_HUMAN K500R Polymorphism MYOC_HUMAN R470C Disease MYOC_HUMAN D208E Polymorphism MYOC_HUMAN W286R Disease MYOC_HUMAN D380A Disease MYOC_HUMAN N73S Polymorphism MYOC_HUMAN K423E Disease MYOC_HUMAN T353I Disease MYOC_HUMAN S502P Disease CT116_HUMAN A303T Polymorphism GSTO2_HUMAN N142D Polymorphism FMO5_HUMAN R505S Polymorphism FMO5_HUMAN P456L Polymorphism FMO5_HUMAN P399A Polymorphism MPU1_HUMAN L74S Disease MPU1_HUMAN L119P Disease MPU1_HUMAN G73E Disease MPIP2_HUMAN E548K Polymorphism B3AT_HUMAN P327R Disease B3AT_HUMAN D38A Polymorphism B3AT_HUMAN P854L Polymorphism B3AT_HUMAN L707P Disease B3AT_HUMAN G701D Disease B3AT_HUMAN I688V Polymorphism B3AT_HUMAN M586L Polymorphism B3AT_HUMAN I783N Disease B3AT_HUMAN P868L Disease B3AT_HUMAN P147S Disease B3AT_HUMAN R490C Disease B3AT_HUMAN V862I Polymorphism B3AT_HUMAN S690G Polymorphism B3AT_HUMAN R870W Disease B3AT_HUMAN V488M Disease B3AT_HUMAN A858D Disease B3AT_HUMAN R760W Disease B3AT_HUMAN G714R Disease B3AT_HUMAN R518C Disease B3AT_HUMAN G771D Disease B3AT_HUMAN I442F Polymorphism B3AT_HUMAN R112S Polymorphism B3AT_HUMAN G130R Disease B3AT_HUMAN T837M Disease B3AT_HUMAN R760Q Disease B3AT_HUMAN T837A Disease B3AT_HUMAN A285D Disease B3AT_HUMAN K56E Polymorphism B3AT_HUMAN R808C Disease B3AT_HUMAN G455E Disease B3AT_HUMAN R832H Polymorphism B3AT_HUMAN R589S Disease B3AT_HUMAN R808H Disease B3AT_HUMAN H834P Disease B3AT_HUMAN R589H Disease B3AT_HUMAN S613F Disease B3AT_HUMAN R589C Disease B3AT_HUMAN E90K Disease FBLN3_HUMAN I220F Polymorphism FBLN3_HUMAN R345W Disease EPB42_HUMAN R279Q Disease EPB42_HUMAN A111T Disease CD24_HUMAN A57V Polymorphism FLNA_HUMAN R195W Disease FLNA_HUMAN A199S Disease FLNA_HUMAN A272P Disease FLNA_HUMAN R195G Disease FLNA_HUMAN D1158A Disease FLNA_HUMAN A1187T Disease FLNA_HUMAN E81V Disease FLNA_HUMAN P206L Disease FLNA_HUMAN A1763T Disease FLNA_HUMAN C1644F Disease FLNA_HUMAN A38G Disease FLNA_HUMAN S1185L Disease FLNA_HUMAN V551A Polymorphism FLNA_HUMAN E253K Disease FLNA_HUMAN V319A Polymorphism FLNA_HUMAN F369L Polymorphism FLNA_HUMAN D1183E Disease FLNA_HUMAN Q169P Disease FLNA_HUMAN S1198L Disease FLNA_HUMAN T554K Disease FLNA_HUMAN L655F Disease FLNA_HUMAN L171F Disease T2R13_HUMAN N259S Polymorphism UD16_HUMAN T181A Polymorphism UD16_HUMAN R184S Polymorphism LAMA_HUMAN R527P Disease LAMA_HUMAN R482W Disease LAMA_HUMAN R482Q Disease LAMA_HUMAN G608S Disease LAMA_HUMAN R482L Disease LAMA_HUMAN R60G Disease LAMA_HUMAN R527C Disease LAMA_HUMAN H222Y Disease LAMA_HUMAN R527H Disease LAMA_HUMAN R471C Disease LAMA_HUMAN N195K Disease LAMA_HUMAN A57P Disease LAMA_HUMAN R453W Disease LAMA_HUMAN R582H Disease LAMA_HUMAN E203G Disease LAMA_HUMAN E161K Disease LAMA_HUMAN G465D Disease LAMA_HUMAN L530P Disease LAMA_HUMAN R133L Disease LAMA_HUMAN R377H Disease LAMA_HUMAN E145K Disease LAMA_HUMAN R133P Disease LAMA_HUMAN K486N Disease LAMA_HUMAN L140R Disease LAMA_HUMAN R298C Disease LAMA_HUMAN L85R Disease CHD6_HUMAN H2161Q Polymorphism FGF20_HUMAN D206N Polymorphism FGF20_HUMAN G116R Polymorphism FGF20_HUMAN P175A Polymorphism CP2CJ_HUMAN P227L Polymorphism CP2CJ_HUMAN R442C Polymorphism CP2CJ_HUMAN L17P Polymorphism CP2CJ_HUMAN I19L Polymorphism CP2CJ_HUMAN E92D Polymorphism CP2CJ_HUMAN R144H Polymorphism CP2CJ_HUMAN R132Q Polymorphism CP2CJ_HUMAN R433W Polymorphism CP2CJ_HUMAN R410C Polymorphism CP2CJ_HUMAN W120R Polymorphism CP2CJ_HUMAN E122A Polymorphism CP2CJ_HUMAN R150H Polymorphism CP2CJ_HUMAN V331I Polymorphism CP2C9_HUMAN I359L Polymorphism CP2C9_HUMAN G417D Polymorphism CP2C9_HUMAN R144C Polymorphism CP2C9_HUMAN H251R Polymorphism CP2C9_HUMAN I359T Polymorphism CP2C9_HUMAN R335W Polymorphism CP2C9_HUMAN D360E Polymorphism CP2C9_HUMAN E272G Polymorphism CP2C9_HUMAN Y358C Polymorphism CP2C9_HUMAN P489S Polymorphism CP2C9_HUMAN R150H Polymorphism CP2C9_HUMAN L19I Polymorphism CPNS1_HUMAN M224V Polymorphism COX3_HUMAN G78S Disease COX3_HUMAN V91I Polymorphism COX3_HUMAN H3R Polymorphism COX3_HUMAN F35S Polymorphism COX3_HUMAN A200T Disease COX3_HUMAN Q177R Polymorphism COX3_HUMAN V254I Polymorphism CE110_HUMAN M252I Polymorphism CE110_HUMAN M375I Polymorphism PCDB8_HUMAN K305E Polymorphism MINP1_HUMAN Q270R Disease TSG6_HUMAN Q144R Polymorphism UCP1_HUMAN A64T Polymorphism UCP1_HUMAN M229L Polymorphism OVGP1_HUMAN E676Q Polymorphism PANX1_HUMAN H5Q Polymorphism RHBT3_HUMAN D262N Polymorphism RHBT3_HUMAN P21R Polymorphism OR2J3_HUMAN R226Q Polymorphism OR2J3_HUMAN I261M Polymorphism OR2J3_HUMAN V228I Polymorphism OR2J3_HUMAN T113A Polymorphism OR2J2_HUMAN A218T Polymorphism OR2J2_HUMAN A146V Polymorphism OR2J2_HUMAN H74Y Polymorphism OR2J2_HUMAN A111T Polymorphism OR2J1_HUMAN I14L Polymorphism DYHC_HUMAN D3902N Polymorphism DYHC_HUMAN H4029Q Polymorphism CTLA4_HUMAN T17A Polymorphism GLPK_HUMAN N232H Polymorphism GLPK_HUMAN W503R Disease GLPK_HUMAN S185N Polymorphism GLPK_HUMAN A376T Polymorphism GLPK_HUMAN N288D Disease GLPK_HUMAN D440V Disease ARHGA_HUMAN T127I Disease ORC5_HUMAN K52N Polymorphism ORC5_HUMAN G37R Polymorphism ORC5_HUMAN R166C Polymorphism CSR2B_HUMAN R442T Polymorphism CF146_HUMAN V431I Polymorphism NQO1_HUMAN R139W Polymorphism NQO1_HUMAN P187S Polymorphism CXA4_HUMAN P70S Polymorphism CXA4_HUMAN A127V Polymorphism CXA4_HUMAN V129I Polymorphism CXA4_HUMAN P318S Polymorphism SFR16_HUMAN E159K Polymorphism AIM2_HUMAN E32K Polymorphism ENPP3_HUMAN V620M Polymorphism KI67_HUMAN K3217E Polymorphism KI67_HUMAN T3150S Polymorphism KI67_HUMAN T1247I Polymorphism KI67_HUMAN E1403V Polymorphism PDIA3_HUMAN K415R Polymorphism OPN4_HUMAN T394I Polymorphism DPOE1_HUMAN A2040V Polymorphism DPOE1_HUMAN R2165H Polymorphism DPOE1_HUMAN E1399Q Polymorphism DPOE1_HUMAN N336S Polymorphism DPOE1_HUMAN F695I Polymorphism DPOE1_HUMAN A252V Polymorphism DPOE1_HUMAN N1396S Polymorphism DPOE1_HUMAN Y1395C Polymorphism EFG1_HUMAN N174S Disease MYPC2_HUMAN R1090H Polymorphism MYPC2_HUMAN G52S Polymorphism MYPC2_HUMAN V625I Polymorphism FBW1A_HUMAN A543S Polymorphism FBW1A_HUMAN P592H Polymorphism THYG_HUMAN W2501R Polymorphism THYG_HUMAN C1996S Disease THYG_HUMAN Q830E Polymorphism THYG_HUMAN P2149L Polymorphism THYG_HUMAN G1312D Polymorphism THYG_HUMAN Q870H Disease THYG_HUMAN D1838N Polymorphism THYG_HUMAN G653D Polymorphism THYG_HUMAN A1936T Polymorphism THYG_HUMAN S734A Polymorphism THYG_HUMAN R1999W Polymorphism THYG_HUMAN R2530Q Polymorphism THYG_HUMAN C1264R Disease THYG_HUMAN R2242H Polymorphism THYG_HUMAN P1463H Polymorphism THYG_HUMAN W1437R Polymorphism THYG_HUMAN D2091E Polymorphism THYG_HUMAN H1043Y Polymorphism THYG_HUMAN M1028V Polymorphism THYG_HUMAN Q2170R Polymorphism THYG_HUMAN Q135H Polymorphism THYG_HUMAN Q515E Polymorphism THYG_HUMAN I1059T Polymorphism CLD8_HUMAN S151P Polymorphism CD226_HUMAN G307S Polymorphism MMP1_HUMAN S406T Polymorphism MMP1_HUMAN R405Q Polymorphism MMP1_HUMAN Q29P Polymorphism MMP1_HUMAN D252G Polymorphism MMP1_HUMAN I191V Polymorphism PININ_HUMAN S671G Polymorphism RD23B_HUMAN A249V Polymorphism NUCB1_HUMAN Q399R Polymorphism PEPD_HUMAN R183Q Disease PEPD_HUMAN G447R Disease PEPD_HUMAN G277D Disease PEPD_HUMAN L434F Polymorphism PEPD_HUMAN D275N Disease ANKS1_HUMAN L693S Polymorphism ALX4_HUMAN R218Q Disease ALX4_HUMAN S102P Polymorphism ALX4_HUMAN R272P Disease ALX4_HUMAN T35R Polymorphism F10A1_HUMAN M297I Polymorphism STOX1_HUMAN R18P Disease STOX1_HUMAN E608D Polymorphism STOX1_HUMAN Y153H Disease STOX1_HUMAN N825I Disease PSG5_HUMAN K154N Polymorphism RGS12_HUMAN N1124S Polymorphism DDX23_HUMAN F309L Polymorphism FASTK_HUMAN A436V Polymorphism SDCB1_HUMAN N69S Polymorphism SPTN5_HUMAN R1345H Polymorphism CU018_HUMAN I387V Polymorphism MBL2_HUMAN G54D Polymorphism MBL2_HUMAN G57E Polymorphism MBL2_HUMAN R52C Polymorphism ARPM2_HUMAN G247R Polymorphism PTHY_HUMAN S23P Disease PTHY_HUMAN C18R Disease PEPA_HUMAN D376E Polymorphism PEPA_HUMAN L353V Polymorphism PEPA_HUMAN Q222K Polymorphism PEPA_HUMAN A265T Polymorphism CD22_HUMAN G745D Polymorphism CD22_HUMAN A34T Polymorphism CD22_HUMAN S664G Polymorphism CD22_HUMAN Y639H Polymorphism CD22_HUMAN R669C Polymorphism CD22_HUMAN E203K Polymorphism C11B2_HUMAN V386A Disease C11B2_HUMAN N222T Polymorphism C11B2_HUMAN K173R Polymorphism C11B2_HUMAN F487V Polymorphism C11B2_HUMAN A29T Polymorphism C11B2_HUMAN V403E Polymorphism C11B2_HUMAN R181W Disease C11B2_HUMAN R30Q Polymorphism C11B2_HUMAN E198D Disease C11B2_HUMAN T185I Disease C11B2_HUMAN N281S Polymorphism C11B2_HUMAN E383V Polymorphism C11B2_HUMAN G435S Polymorphism C11B2_HUMAN I339T Polymorphism C11B2_HUMAN I248T Polymorphism C11B2_HUMAN L461P Disease C11B2_HUMAN T498A Disease C11B1_HUMAN R374Q Disease C11B1_HUMAN V386A Polymorphism C11B1_HUMAN D63H Polymorphism C11B1_HUMAN Q43R Polymorphism C11B1_HUMAN K173R Polymorphism C11B1_HUMAN R448H Disease C11B1_HUMAN M160I Polymorphism C11B1_HUMAN T318M Disease C11B1_HUMAN A348T Polymorphism C11B1_HUMAN P42S Disease C11B1_HUMAN F257L Polymorphism C11B1_HUMAN N133H Disease C11B1_HUMAN Y439H Polymorphism C11B1_HUMAN C10Y Polymorphism C11B1_HUMAN C494F Polymorphism C11B1_HUMAN T319M Disease C11B1_HUMAN L293V Polymorphism C11B1_HUMAN S281N Polymorphism CNGA3_HUMAN T153M Polymorphism CNGA3_HUMAN P163L Disease CNGA3_HUMAN R410W Disease CNGA3_HUMAN F547L Disease CNGA3_HUMAN R283Q Disease CNGA3_HUMAN G557R Disease CNGA3_HUMAN T291R Disease CNGA3_HUMAN V529M Disease CNGA3_HUMAN E198K Polymorphism CNGA3_HUMAN R283W Disease DOPO_HUMAN V87M Disease DOPO_HUMAN A304S Polymorphism DOPO_HUMAN K225N Polymorphism DOPO_HUMAN E167Q Polymorphism DOPO_HUMAN D100E Disease DOPO_HUMAN L303P Polymorphism DOPO_HUMAN R535C Polymorphism DOPO_HUMAN D276N Polymorphism DOPO_HUMAN D331N Disease DOPO_HUMAN E236Q Polymorphism DOPO_HUMAN A197T Polymorphism KELL_HUMAN A163T Polymorphism KELL_HUMAN L597P Polymorphism KELL_HUMAN T193M Polymorphism KELL_HUMAN M1T Polymorphism KELL_HUMAN S726A Polymorphism KELL_HUMAN R281W Polymorphism FGL2_HUMAN G53E Polymorphism ERCC5_HUMAN V590I Polymorphism ERCC5_HUMAN V597L Polymorphism ERCC5_HUMAN R1009H Polymorphism ERCC5_HUMAN A874T Disease ERCC5_HUMAN L858P Disease ERCC5_HUMAN Q680R Polymorphism ERCC5_HUMAN Q256R Polymorphism ERCC5_HUMAN M254V Polymorphism ERCC5_HUMAN A1119V Polymorphism ERCC5_HUMAN R1080Q Polymorphism ERCC5_HUMAN S311C Polymorphism ERCC5_HUMAN E399K Polymorphism ERCC5_HUMAN C529S Polymorphism ERCC5_HUMAN N879S Polymorphism ERCC5_HUMAN P72H Disease ERCC5_HUMAN V145I Polymorphism ERCC5_HUMAN H181R Polymorphism ERCC5_HUMAN H1104D Polymorphism ERCC5_HUMAN A792V Disease PSCBP_HUMAN D37N Polymorphism TOR1A_HUMAN D216H Polymorphism TOR1A_HUMAN D264H Polymorphism A2AP_HUMAN V411M Disease A2AP_HUMAN R33W Polymorphism A2AP_HUMAN A27V Polymorphism A2AP_HUMAN R434K Polymorphism HBB_HUMAN E6V Polymorphism HBD_HUMAN T4I Polymorphism RIP_HUMAN K103N Polymorphism ABC3G_HUMAN H186R Polymorphism DNM1L_HUMAN T71S Polymorphism SH21A_HUMAN P101L Disease SH21A_HUMAN R32T Disease SH21A_HUMAN R55L Disease SH21A_HUMAN T68I Disease XRP2_HUMAN P95L Disease XRP2_HUMAN C67Y Disease XRP2_HUMAN D338Y Polymorphism XRP2_HUMAN E138G Disease XRP2_HUMAN C108G Disease XRP2_HUMAN L188P Disease XRP2_HUMAN R118H Disease XRP2_HUMAN C86Y Disease XRP2_HUMAN L253R Disease XRP2_HUMAN R282W Polymorphism XRP2_HUMAN R118L Disease CHSTD_HUMAN R317Q Polymorphism CHSTD_HUMAN A271V Polymorphism CHSTD_HUMAN A271G Polymorphism CHSTD_HUMAN A271E Polymorphism GBGT1_HUMAN L20F Polymorphism PCDB3_HUMAN R414S Polymorphism P_HUMAN R419Q Polymorphism P_HUMAN I473S Disease P_HUMAN A787V Disease P_HUMAN R419W Disease P_HUMAN D257A Polymorphism P_HUMAN P198L Disease P_HUMAN A368V Disease P_HUMAN W679R Disease P_HUMAN R290G Disease P_HUMAN T387M Polymorphism P_HUMAN A724P Disease P_HUMAN N489D Disease P_HUMAN W679C Disease P_HUMAN M446V Disease P_HUMAN P241R Polymorphism P_HUMAN M395L Disease P_HUMAN C112F Disease P_HUMAN R720C Disease P_HUMAN T592I Disease P_HUMAN K614N Disease P_HUMAN L440F Polymorphism P_HUMAN K614E Disease P_HUMAN L440H Polymorphism P_HUMAN R305W Polymorphism P_HUMAN S736L Disease P_HUMAN P211L Disease P_HUMAN A334V Disease P_HUMAN S86R Disease P_HUMAN G27R Disease P_HUMAN H615R Polymorphism P_HUMAN V443I Disease P_HUMAN F385I Disease P_HUMAN I722T Polymorphism P_HUMAN A481T Disease P_HUMAN T404M Disease P_HUMAN G795R Disease P_HUMAN H549Q Disease P_HUMAN W652R Disease P_HUMAN I617L Disease P_HUMAN P743L Disease P_HUMAN R10W Disease P_HUMAN M394I Disease P_HUMAN Q799H Disease OSR5_HUMAN A774T Polymorphism DYI3_HUMAN A8S Polymorphism DYI3_HUMAN G515S Disease CCL8_HUMAN K69Q Polymorphism BRS3_HUMAN T53P Polymorphism BRS3_HUMAN L162Q Polymorphism KLK2_HUMAN R250W Polymorphism KLK2_HUMAN V18L Polymorphism CAD23_HUMAN P2380L Polymorphism CAD23_HUMAN D990N Disease CAD23_HUMAN E2588Q Polymorphism CAD23_HUMAN R1746Q Disease CAD23_HUMAN A366T Disease CAD23_HUMAN R1804Q Polymorphism CAD23_HUMAN T1575A Polymorphism CAD23_HUMAN D2045N Disease CAD23_HUMAN A1222T Polymorphism CAD23_HUMAN R3189W Disease CAD23_HUMAN R2956C Disease CAD23_HUMAN I2950N Disease CAD23_HUMAN R2358Q Polymorphism CAD23_HUMAN G490A Polymorphism CAD23_HUMAN R1507Q Disease CAD23_HUMAN R1349C Polymorphism CAD23_HUMAN D1351N Polymorphism CAD23_HUMAN E2044K Polymorphism CAD23_HUMAN S496N Polymorphism CAD23_HUMAN D2202N Disease CAD23_HUMAN R3C Polymorphism CAD23_HUMAN V1675I Polymorphism CAD23_HUMAN T1999S Polymorphism CAD23_HUMAN F3125L Polymorphism CAD23_HUMAN T1671S Polymorphism CAD23_HUMAN T1209A Disease CAD23_HUMAN S3245F Disease CAD23_HUMAN P3059T Disease CAD23_HUMAN Q1496H Disease ATL1_HUMAN S242N Polymorphism IKKE_HUMAN P713L Polymorphism EI2BA_HUMAN N208Y Disease BIRC3_HUMAN K260R Polymorphism BIRC3_HUMAN R401K Polymorphism PKP2_HUMAN K654Q Disease PKP2_HUMAN S615F Disease PKP2_HUMAN C796R Disease PKP2_HUMAN S140F Disease ACHB4_HUMAN R136W Polymorphism ACHB4_HUMAN M467V Polymorphism ACHB4_HUMAN S140G Polymorphism SOMA_HUMAN K67R Disease SOMA_HUMAN S105C Polymorphism SOMA_HUMAN R42C Disease SOMA_HUMAN E100K Disease SOMA_HUMAN S97F Disease SOMA_HUMAN S134R Disease SOMA_HUMAN R209H Disease SOMA_HUMAN N73D Disease SOMA_HUMAN L16P Disease SOMA_HUMAN R103C Disease SOMA_HUMAN V136I Polymorphism SOMA_HUMAN T53I Disease SOMA_HUMAN T201A Disease SOMA_HUMAN D37N Disease SOMA_HUMAN S134C Disease SOMA_HUMAN T3A Disease SOMA_HUMAN D138G Disease SOMA_HUMAN Q117L Disease SOM2_HUMAN R90W Polymorphism GALT2_HUMAN V554M Polymorphism PTN23_HUMAN P1099S Disease PTN23_HUMAN A944T Polymorphism TLN1_HUMAN R1919W Polymorphism TLN1_HUMAN S1227L Polymorphism ARK73_HUMAN V138M Polymorphism ARK73_HUMAN N215D Polymorphism ARK73_HUMAN T323A Polymorphism ARK72_HUMAN C214Y Polymorphism ARK72_HUMAN A142T Polymorphism ARK72_HUMAN Q157H Polymorphism GML_HUMAN R54C Polymorphism TBX4_HUMAN G6A Polymorphism TBX4_HUMAN A314V Polymorphism DNJBC_HUMAN E304K Polymorphism SIX3_HUMAN L226V Disease SIX3_HUMAN R257W Disease SIX3_HUMAN R257P Disease SIX3_HUMAN V92G Disease SIX3_HUMAN I105V Disease SIX3_HUMAN H173P Disease SIX3_HUMAN T202I Disease SIX3_HUMAN V250A Disease SIX3_HUMAN P231R Disease SRCH_HUMAN S43N Polymorphism SRCH_HUMAN S96A Polymorphism MRGX4_HUMAN N25K Polymorphism MRGX4_HUMAN F8L Polymorphism MRGX4_HUMAN Y54C Polymorphism MRGX4_HUMAN S83L Polymorphism GPIX_HUMAN N61S Disease GPIX_HUMAN D37G Disease WFDC9_HUMAN N27T Polymorphism SYM_HUMAN A683D Polymorphism ILF3_HUMAN D50H Polymorphism DAD1_HUMAN A82T Polymorphism ADA33_HUMAN M764T Polymorphism IKBL_HUMAN C224R Polymorphism KIME_HUMAN G202R Disease KIME_HUMAN H20N Disease KIME_HUMAN A148T Disease KIME_HUMAN A334T Disease KIME_HUMAN N301T Disease KIME_HUMAN S52N Polymorphism KIME_HUMAN I268T Disease KIME_HUMAN V310M Disease KIME_HUMAN G309S Disease KIME_HUMAN S150L Disease KIME_HUMAN L265P Disease KIME_HUMAN P167L Disease KIME_HUMAN R215Q Disease KIME_HUMAN S135L Disease KIME_HUMAN L39P Disease KIME_HUMAN T243I Disease KIME_HUMAN L264F Disease KIME_HUMAN V377I Disease KIME_HUMAN H20P Disease KIME_HUMAN G326R Disease ACTN3_HUMAN Q523R Polymorphism VRK2_HUMAN V167I Polymorphism MC3R_HUMAN V81I Polymorphism MC3R_HUMAN T6K Polymorphism RGS9_HUMAN W299R Disease NCOA3_HUMAN G460R Polymorphism NCOA3_HUMAN P559S Polymorphism NCOA3_HUMAN Q586H Polymorphism RPP38_HUMAN A114V Polymorphism RPP38_HUMAN A181G Polymorphism RPP38_HUMAN E88D Polymorphism JAK3_HUMAN G589S Disease JAK3_HUMAN C759R Disease JAK3_HUMAN P151R Disease JAK3_HUMAN L910S Disease JAK3_HUMAN R582W Disease JAK3_HUMAN V722I Disease JAK3_HUMAN D169E Disease JAK3_HUMAN P132T Polymorphism JAK3_HUMAN Y100C Disease JAK3_HUMAN E481G Disease PSPC_HUMAN N186S Polymorphism PSPC_HUMAN N138T Polymorphism STAB2_HUMAN H510P Polymorphism RL37_HUMAN G80E Polymorphism PHB_HUMAN R105H Disease PHB_HUMAN V88A Disease PA2GA_HUMAN H19Y Polymorphism CAN9_HUMAN R277W Polymorphism CAN9_HUMAN A102V Polymorphism CAN9_HUMAN M611I Polymorphism CAN9_HUMAN K322Q Polymorphism CAN9_HUMAN R458W Polymorphism CAN9_HUMAN S122R Polymorphism CAN9_HUMAN D164N Polymorphism CAN9_HUMAN E342K Polymorphism CAN9_HUMAN A239T Polymorphism CAN9_HUMAN R522W Polymorphism CAN9_HUMAN H327Q Polymorphism CAN9_HUMAN I234T Polymorphism CF139_HUMAN G63R Polymorphism TPR_HUMAN S960N Polymorphism APOL2_HUMAN I245V Polymorphism GDAP1_HUMAN R310Q Disease GDAP1_HUMAN R120Q Disease GDAP1_HUMAN R282C Disease GDAP1_HUMAN R161H Disease NHS_HUMAN S1535T Polymorphism NHS_HUMAN F1319L Polymorphism MDR1_HUMAN F103L Polymorphism MDR1_HUMAN M986V Polymorphism MDR1_HUMAN A999T Polymorphism MDR1_HUMAN S1141T Polymorphism MDR1_HUMAN V1251I Polymorphism MDR1_HUMAN N21D Polymorphism MDR1_HUMAN Q1107P Polymorphism MDR1_HUMAN R593C Polymorphism MDR1_HUMAN A893T Polymorphism MDR1_HUMAN F17L Polymorphism MDR1_HUMAN E566K Polymorphism MDR1_HUMAN A893S Polymorphism MDR1_HUMAN P1051A Polymorphism MDR1_HUMAN S400N Polymorphism MDR1_HUMAN I836V Polymorphism MDR1_HUMAN E108K Polymorphism ZN562_HUMAN K205E Polymorphism ZN562_HUMAN F178L Polymorphism MTHR_HUMAN R325C Disease MTHR_HUMAN R335C Disease MTHR_HUMAN P572L Disease MTHR_HUMAN L323P Disease MTHR_HUMAN R157Q Disease MTHR_HUMAN E586K Disease MTHR_HUMAN E428A Polymorphism MTHR_HUMAN R52Q Disease MTHR_HUMAN P251L Disease MTHR_HUMAN T227M Disease MTHR_HUMAN R594Q Polymorphism MTHR_HUMAN G387D Disease MTHR_HUMAN R68Q Polymorphism MTHR_HUMAN R519C Polymorphism MTHR_HUMAN N324S Disease MTHR_HUMAN R357C Disease MTHR_HUMAN E429A Polymorphism MTHR_HUMAN R377C Disease MTHR_HUMAN W339G Disease MTHR_HUMAN T653M Polymorphism MTHR_HUMAN A222V Polymorphism MTHR_HUMAN G422R Polymorphism MTHR_HUMAN R51P Disease GPR56_HUMAN S281R Polymorphism GPR56_HUMAN Q306H Polymorphism PRTN3_HUMAN T136S Polymorphism PRTN3_HUMAN A135T Polymorphism PRTN3_HUMAN V119I Polymorphism ACSL5_HUMAN M182V Polymorphism RASF7_HUMAN P89A Polymorphism RASF7_HUMAN R156Q Polymorphism RENAL_HUMAN E37D Polymorphism DPYL3_HUMAN A442S Polymorphism CBPA4_HUMAN G303C Polymorphism CBPA4_HUMAN P157T Polymorphism ANAG_HUMAN R643H Disease ANAG_HUMAN Y92H Disease ANAG_HUMAN H100R Polymorphism ANAG_HUMAN P243L Disease ANAG_HUMAN A664V Disease ANAG_HUMAN C277F Disease ANAG_HUMAN R482W Disease ANAG_HUMAN E452K Disease ANAG_HUMAN R565Q Disease ANAG_HUMAN P358L Disease ANAG_HUMAN L682R Disease ANAG_HUMAN L561R Disease ANAG_HUMAN E153K Disease ANAG_HUMAN G292R Disease ANAG_HUMAN P115S Disease ANAG_HUMAN E705K Disease ANAG_HUMAN G79C Disease ANAG_HUMAN L280P Disease ANAG_HUMAN Y140C Disease ANAG_HUMAN R674H Disease ANAG_HUMAN G737R Polymorphism LYSC_HUMAN I74T Disease LYSC_HUMAN T88N Polymorphism LYSC_HUMAN D85H Disease PCDLK_HUMAN L1164M Polymorphism COMP_HUMAN T585R Disease COMP_HUMAN D482G Disease COMP_HUMAN G440R Disease COMP_HUMAN N453S Disease COMP_HUMAN C328R Disease COMP_HUMAN T585M Disease COMP_HUMAN G440E Disease COMP_HUMAN D290N Disease COMP_HUMAN D361V Disease COMP_HUMAN D342Y Disease COMP_HUMAN D518N Disease COMP_HUMAN W51L Polymorphism COMP_HUMAN D361Y Disease COMP_HUMAN C468Y Disease COMP_HUMAN D473G Disease COMP_HUMAN G224R Polymorphism COMP_HUMAN C348R Disease COMP_HUMAN W51R Polymorphism COMP_HUMAN G299R Disease COMP_HUMAN R256P Polymorphism COMP_HUMAN D408Y Disease COMP_HUMAN D50E Polymorphism COMP_HUMAN D472Y Disease COMP_HUMAN G109A Polymorphism COMP_HUMAN R256G Polymorphism COMP_HUMAN C387G Disease COMP_HUMAN G719D Disease COMP_HUMAN N523K Disease COMP_HUMAN D349V Disease COMP_HUMAN C371S Disease COMP_HUMAN P285R Polymorphism SIRT6_HUMAN S46N Polymorphism PIMT_HUMAN I119V Polymorphism TAF7_HUMAN S178R Polymorphism S3TC1_HUMAN R785C Polymorphism MANS1_HUMAN V55I Polymorphism MANS1_HUMAN N375Y Polymorphism BORG1_HUMAN N176S Polymorphism BORG1_HUMAN I191F Polymorphism MGMT_HUMAN L84F Polymorphism MGMT_HUMAN E30K Polymorphism MGMT_HUMAN G160R Polymorphism MGMT_HUMAN K178R Polymorphism MGMT_HUMAN W65C Polymorphism MGMT_HUMAN I143V Polymorphism MGMT_HUMAN E166D Polymorphism MRP2_HUMAN Q1382R Disease MRP2_HUMAN I1036T Polymorphism MRP2_HUMAN V417I Polymorphism MRP2_HUMAN R768W Disease MRP2_HUMAN A1450T Polymorphism MRP2_HUMAN C1515Y Polymorphism MRP2_HUMAN V1188E Polymorphism MRP2_HUMAN R1181L Polymorphism MRP2_HUMAN S789F Polymorphism MRP2_HUMAN I670T Polymorphism MRP2_HUMAN I1173F Disease MRP2_HUMAN P1291L Polymorphism MRP2_HUMAN D333G Polymorphism MRP2_HUMAN R1150H Disease MRP2_HUMAN L849R Polymorphism MRP2_HUMAN R353H Polymorphism MRP2_HUMAN S281N Polymorphism B4GT4_HUMAN Q116E Polymorphism PAI2_HUMAN N404K Polymorphism PAI2_HUMAN N120D Polymorphism PAI2_HUMAN R229H Polymorphism PAI2_HUMAN S413C Polymorphism KI2S2_HUMAN K237E Polymorphism KI2S1_HUMAN R91K Polymorphism KCNS3_HUMAN A450T Polymorphism SURF1_HUMAN I246T Disease SURF1_HUMAN Y274D Disease SURF1_HUMAN G124E Disease SURF1_HUMAN G124R Disease SURF1_HUMAN D202H Polymorphism VP13A_HUMAN S1452P Disease PSN2_HUMAN M239V Disease PSN2_HUMAN V148I Disease PSN2_HUMAN T122P Disease PSN2_HUMAN N141I Disease PSN2_HUMAN R62H Disease PSN2_HUMAN M239I Disease NO55_HUMAN Q186R Polymorphism METH_HUMAN H920D Disease METH_HUMAN P1173L Disease METH_HUMAN D919G Polymorphism METH_HUMAN R61K Polymorphism METH_HUMAN C255Y Polymorphism PGM1_HUMAN R220C Polymorphism PGM1_HUMAN Y419H Polymorphism PGM1_HUMAN K67M Polymorphism ALDOA_HUMAN D128G Disease STA5B_HUMAN A630P Disease RD23A_HUMAN R179Q Polymorphism RD23A_HUMAN T200M Polymorphism RD23A_HUMAN T131A Polymorphism NPHP1_HUMAN G342R Disease EFNB3_HUMAN R166Q Polymorphism TPPC2_HUMAN D47Y Disease TPPC2_HUMAN F83S Disease TPPC2_HUMAN S73L Disease TPPC2_HUMAN V130D Disease BBS1_HUMAN M390R Disease BBS1_HUMAN E234K Disease BBS1_HUMAN L518P Disease DOCK2_HUMAN T1779S Polymorphism DOCK2_HUMAN S1746T Polymorphism S19A1_HUMAN H27R Polymorphism 3BP1_HUMAN L431P Polymorphism XRCC1_HUMAN E157K Polymorphism XRCC1_HUMAN P309S Polymorphism XRCC1_HUMAN R194W Polymorphism XRCC1_HUMAN P514L Polymorphism XRCC1_HUMAN S485Y Polymorphism XRCC1_HUMAN R399Q Polymorphism XRCC1_HUMAN R280H Polymorphism XRCC1_HUMAN R7L Polymorphism XRCC1_HUMAN T304A Polymorphism XRCC1_HUMAN K298N Polymorphism XRCC1_HUMAN V10M Polymorphism XRCC1_HUMAN R559Q Polymorphism XRCC1_HUMAN R560W Polymorphism XRCC1_HUMAN V72A Polymorphism XRCC1_HUMAN P161L Polymorphism XRCC1_HUMAN Y576S Polymorphism INS_HUMAN R89L Disease INS_HUMAN R89H Disease INS_HUMAN H34D Disease DOT1L_HUMAN V1418L Polymorphism DOT1L_HUMAN L726M Polymorphism DOT1L_HUMAN G1386S Polymorphism CDC23_HUMAN E72Q Polymorphism GP153_HUMAN R209H Polymorphism CSF1R_HUMAN Y969C Polymorphism BT1A1_HUMAN T213A Polymorphism SCAP_HUMAN V798I Polymorphism ADML_HUMAN S50R Polymorphism CO5A2_HUMAN G960R Disease RECQ1_HUMAN D495H Polymorphism RECQ1_HUMAN K487T Polymorphism CIA30_HUMAN R31L Polymorphism CIA30_HUMAN E176K Polymorphism CIA30_HUMAN R9H Polymorphism CIA30_HUMAN A314G Polymorphism TACT_HUMAN A142P Polymorphism PTPRF_HUMAN D552N Polymorphism PTPRF_HUMAN Y440C Polymorphism CXA12_HUMAN M286T Disease CXA12_HUMAN Y272D Disease CXA12_HUMAN P90S Disease K1404_HUMAN T1351I Polymorphism K1404_HUMAN T910A Polymorphism K1404_HUMAN L864V Polymorphism K1404_HUMAN Q924H Polymorphism KALM_HUMAN N267K Disease KALM_HUMAN E514K Disease KALM_HUMAN I534V Polymorphism INP4B_HUMAN F311Y Polymorphism IPYR2_HUMAN K282N Polymorphism XRCC4_HUMAN I134T Polymorphism XRCC4_HUMAN Q240P Polymorphism XRCC4_HUMAN A56T Polymorphism XRCC4_HUMAN A247S Polymorphism XRCC4_HUMAN S12C Polymorphism XRCC4_HUMAN E142Q Polymorphism AHI1_HUMAN V443D Disease PFD3_HUMAN V123M Polymorphism KLK1_HUMAN R77H Polymorphism KLK1_HUMAN Q145E Polymorphism KLK1_HUMAN E186K Polymorphism KLK1_HUMAN V193E Polymorphism NAT6_HUMAN R145S Disease NAT6_HUMAN T207S Disease 5HT2C_HUMAN C23S Polymorphism CCL20_HUMAN V47M Polymorphism K0427_HUMAN P82L Polymorphism PH4H_HUMAN R243Q Disease PH4H_HUMAN A309D Disease PH4H_HUMAN G247V Disease PH4H_HUMAN F161S Disease PH4H_HUMAN A104D Disease PH4H_HUMAN E205A Disease PH4H_HUMAN D282N Disease PH4H_HUMAN A309V Disease PH4H_HUMAN Y277C Disease PH4H_HUMAN I174T Disease PH4H_HUMAN R408Q Disease PH4H_HUMAN I174V Disease PH4H_HUMAN G257C Disease PH4H_HUMAN I283N Disease PH4H_HUMAN G46S Disease PH4H_HUMAN D143G Disease PH4H_HUMAN A322T Disease PH4H_HUMAN N167I Disease PH4H_HUMAN A322G Disease PH4H_HUMAN L41F Disease PH4H_HUMAN S350T Disease PH4H_HUMAN I224M Disease PH4H_HUMAN A246D Disease PH4H_HUMAN G337V Disease PH4H_HUMAN L249F Disease PH4H_HUMAN L212P Disease PH4H_HUMAN L41P Disease PH4H_HUMAN E280K Disease PH4H_HUMAN F263L Disease PH4H_HUMAN R408W Disease PH4H_HUMAN I283F Disease PH4H_HUMAN G344V Disease PH4H_HUMAN G344R Disease PH4H_HUMAN A395G Disease PH4H_HUMAN K42I Disease PH4H_HUMAN D222V Disease PH4H_HUMAN F240S Disease PH4H_HUMAN S310F Disease PH4H_HUMAN A395P Disease PH4H_HUMAN M276I Disease PH4H_HUMAN E390G Disease PH4H_HUMAN R261P Disease PH4H_HUMAN R261Q Disease PH4H_HUMAN E183Q Disease PH4H_HUMAN S40L Disease PH4H_HUMAN L348V Disease PH4H_HUMAN I164T Disease PH4H_HUMAN F233L Disease PH4H_HUMAN I306V Disease PH4H_HUMAN T372S Disease PH4H_HUMAN Y154N Disease PH4H_HUMAN H201R Disease PH4H_HUMAN D145V Disease PH4H_HUMAN Y277D Disease PH4H_HUMAN H170R Disease PH4H_HUMAN L347F Disease PH4H_HUMAN C357G Disease PH4H_HUMAN Q160P Disease PH4H_HUMAN R176L Disease PH4H_HUMAN H170D Disease PH4H_HUMAN D129Y Disease PH4H_HUMAN R68S Disease PH4H_HUMAN H201Y Disease PH4H_HUMAN G239S Disease PH4H_HUMAN G148S Disease PH4H_HUMAN V230I Disease PH4H_HUMAN R252G Disease PH4H_HUMAN F331L Disease PH4H_HUMAN A342T Disease PH4H_HUMAN A447D Disease PH4H_HUMAN G218V Disease PH4H_HUMAN F299C Disease PH4H_HUMAN Q20L Disease PH4H_HUMAN I269L Disease PH4H_HUMAN R252W Disease PH4H_HUMAN L98S Disease PH4H_HUMAN P407S Disease PH4H_HUMAN H271Y Disease PH4H_HUMAN G171A Disease PH4H_HUMAN D84Y Disease PH4H_HUMAN C217G Disease PH4H_HUMAN Y204C Disease PH4H_HUMAN D338Y Disease PH4H_HUMAN P366H Disease PH4H_HUMAN P211T Disease PH4H_HUMAN P244L Disease PH4H_HUMAN V190A Disease PH4H_HUMAN Y414C Disease PH4H_HUMAN G171R Disease PH4H_HUMAN Y377C Disease PH4H_HUMAN F410S Disease PH4H_HUMAN V245L Disease PH4H_HUMAN F55L Disease PH4H_HUMAN S87R Disease PH4H_HUMAN V245E Disease PH4H_HUMAN R157N Disease PH4H_HUMAN V245A Disease PH4H_HUMAN N167S Disease PH4H_HUMAN Y386C Disease PH4H_HUMAN A345T Disease PH4H_HUMAN P173T Disease PH4H_HUMAN A345S Disease PH4H_HUMAN E178G Disease PH4H_HUMAN I65T Disease PH4H_HUMAN S110C Disease PH4H_HUMAN F39L Disease PH4H_HUMAN S349L Disease PH4H_HUMAN K341R Disease PH4H_HUMAN A259T Disease PH4H_HUMAN D415N Disease PH4H_HUMAN A259V Disease PH4H_HUMAN K341T Disease PH4H_HUMAN R297H Disease PH4H_HUMAN Y325C Disease PH4H_HUMAN T92I Disease PH4H_HUMAN R252Q Disease PH4H_HUMAN R297C Disease PH4H_HUMAN S231P Disease PH4H_HUMAN H146Y Disease PH4H_HUMAN R241C Disease PH4H_HUMAN S231F Disease PH4H_HUMAN S67P Disease PH4H_HUMAN R158Q Disease PH4H_HUMAN S16P Disease PH4H_HUMAN T380M Disease PH4H_HUMAN Q304R Disease PH4H_HUMAN D394H Disease PH4H_HUMAN D394A Disease PH4H_HUMAN T124I Disease PH4H_HUMAN L242F Disease PH4H_HUMAN Y206D Disease PH4H_HUMAN S303P Disease PH4H_HUMAN E221G Disease PH4H_HUMAN N207D Disease PH4H_HUMAN R155P Disease PH4H_HUMAN R241L Disease PH4H_HUMAN L213P Disease PH4H_HUMAN R241H Disease PH4H_HUMAN E56D Disease PH4H_HUMAN L430P Disease PH4H_HUMAN R270K Disease PH4H_HUMAN L48S Disease PH4H_HUMAN S273F Disease PH4H_HUMAN R413S Disease PH4H_HUMAN R270S Disease PH4H_HUMAN M276V Disease PH4H_HUMAN P314H Disease PH4H_HUMAN L248P Disease PH4H_HUMAN I65N Disease PH4H_HUMAN E76A Disease PH4H_HUMAN C265G Disease PH4H_HUMAN A300V Disease PH4H_HUMAN A300S Disease PH4H_HUMAN P225T Disease PH4H_HUMAN P225R Disease PH4H_HUMAN E330D Disease PH4H_HUMAN H264L Disease PH4H_HUMAN S349P Disease PH4H_HUMAN K274E Polymorphism PH4H_HUMAN T278N Disease PH4H_HUMAN T278A Disease PH4H_HUMAN N207S Disease PH4H_HUMAN T238P Disease PH4H_HUMAN V388L Disease PH4H_HUMAN I318T Disease PH4H_HUMAN L311P Disease PH4H_HUMAN L255V Disease PH4H_HUMAN R413P Disease PH4H_HUMAN Y387H Disease PH4H_HUMAN A47V Disease PH4H_HUMAN R158W Disease PH4H_HUMAN T418P Disease PH4H_HUMAN R176P Disease PH4H_HUMAN R53H Disease PH4H_HUMAN L255S Disease PH4H_HUMAN P281L Disease PH4H_HUMAN L194P Disease PH4H_HUMAN V388M Disease PH4H_HUMAN L333F Disease PH4H_HUMAN D151H Disease PH4H_HUMAN Y343C Disease PH4H_HUMAN A403V Disease PH4H_HUMAN C334S Disease PH4H_HUMAN P362T Disease PH4H_HUMAN R169H Disease PH4H_HUMAN V177L Disease PH4H_HUMAN P175A Disease P3C2A_HUMAN T1415A Polymorphism SODM_HUMAN R156W Polymorphism SODM_HUMAN I82T Polymorphism SODM_HUMAN A16V Polymorphism SODM_HUMAN E66V Polymorphism SODM_HUMAN S10I Polymorphism TAF6_HUMAN C36S Polymorphism G6PT1_HUMAN G339C Disease G6PT1_HUMAN R28H Disease G6PT1_HUMAN W118R Disease G6PT1_HUMAN G149E Disease DDX31_HUMAN I799V Polymorphism DDX31_HUMAN R843Q Polymorphism IMMT_HUMAN P124S Polymorphism K0406_HUMAN A671V Polymorphism K0406_HUMAN A979T Polymorphism IP3KB_HUMAN P552Q Polymorphism IP3KB_HUMAN S408A Polymorphism LRRC6_HUMAN I232T Polymorphism ITIH4_HUMAN I86N Polymorphism HXA2_HUMAN M196L Polymorphism GBB3_HUMAN G272S Polymorphism GBB3_HUMAN D76N Polymorphism GBB3_HUMAN W339L Polymorphism FCG3B_HUMAN A78D Polymorphism FCG3B_HUMAN S65N Polymorphism FCG3B_HUMAN N82D Polymorphism FCG3B_HUMAN S36R Polymorphism FCG3B_HUMAN I106V Polymorphism FCG3A_HUMAN F157V Polymorphism FCG3A_HUMAN L66H Polymorphism FCG3A_HUMAN L66R Polymorphism FCG3A_HUMAN F176V Polymorphism AAAS_HUMAN H160R Disease AAAS_HUMAN Q15K Disease AAAS_HUMAN S263P Disease ABCBA_HUMAN A150S Polymorphism ABCD4_HUMAN E368K Polymorphism ABCD4_HUMAN A304T Polymorphism GALR1_HUMAN N334S Polymorphism GALR1_HUMAN C15W Polymorphism GALR1_HUMAN P342L Polymorphism K1849_HUMAN G884S Polymorphism PCDB2_HUMAN V128I Polymorphism CSMD3_HUMAN I182M Polymorphism CSMD3_HUMAN N3584H Polymorphism CSMD3_HUMAN V2963L Polymorphism RDH1_HUMAN G35S Disease RDH1_HUMAN V164F Disease RDH1_HUMAN R280H Disease RDH1_HUMAN A294P Disease RDH1_HUMAN G238W Disease RDH1_HUMAN I33V Polymorphism RDH1_HUMAN C267W Disease RDH1_HUMAN V177G Disease RDH1_HUMAN S73F Disease RDH1_HUMAN V132M Disease RDH1_HUMAN G107R Disease RDH1_HUMAN Y281H Disease NMDE2_HUMAN S407N Polymorphism TMC8_HUMAN N306I Polymorphism MSX2_HUMAN R172H Disease MSX2_HUMAN P148H Disease MSX2_HUMAN L154P Disease MSX2_HUMAN T129M Polymorphism BAK_HUMAN S69R Polymorphism BAK_HUMAN A28V Polymorphism LRP10_HUMAN R48W Polymorphism BRCA1_HUMAN E23K Disease BRCA1_HUMAN M1628T Disease BRCA1_HUMAN S1613G Polymorphism BRCA1_HUMAN V1047A Disease BRCA1_HUMAN R1699W Disease BRCA1_HUMAN D749Y Disease BRCA1_HUMAN H888Y Disease BRCA1_HUMAN E10K Disease BRCA1_HUMAN G275S Polymorphism BRCA1_HUMAN K820E Polymorphism BRCA1_HUMAN R841W Disease BRCA1_HUMAN S1140G Polymorphism BRCA1_HUMAN F1226L Disease BRCA1_HUMAN K1690Q Disease BRCA1_HUMAN T1620A Polymorphism BRCA1_HUMAN E1060A Polymorphism BRCA1_HUMAN E1210G Disease BRCA1_HUMAN C61G Disease BRCA1_HUMAN D693N Polymorphism BRCA1_HUMAN S1431P Polymorphism BRCA1_HUMAN V1665M Polymorphism BRCA1_HUMAN Q356R Polymorphism BRCA1_HUMAN N723D Polymorphism BRCA1_HUMAN R1347G Polymorphism BRCA1_HUMAN V1713G Polymorphism BRCA1_HUMAN S1297P Disease BRCA1_HUMAN R866Q Disease BRCA1_HUMAN N656I Polymorphism BRCA1_HUMAN G552V Disease BRCA1_HUMAN S1187I Disease BRCA1_HUMAN K1207N Disease BRCA1_HUMAN H835Y Disease BRCA1_HUMAN S1040N Polymorphism BRCA1_HUMAN Y465D Disease BRCA1_HUMAN F461L Disease BRCA1_HUMAN T1025I Disease BRCA1_HUMAN A1708E Disease BRCA1_HUMAN G960D Disease BRCA1_HUMAN F989S Polymorphism BRCA1_HUMAN V271M Disease BRCA1_HUMAN L22S Disease BRCA1_HUMAN L892S Disease BRCA1_HUMAN M1411T Disease BRCA1_HUMAN P1812S Disease BRCA1_HUMAN H239R Polymorphism BRCA1_HUMAN K1406N Polymorphism BRCA1_HUMAN M1008I Polymorphism BRCA1_HUMAN Q1200H Disease BRCA1_HUMAN P1637L Polymorphism BRCA1_HUMAN L1786P Disease BRCA1_HUMAN C1697R Disease BRCA1_HUMAN P1749R Disease BRCA1_HUMAN C64G Disease BRCA1_HUMAN R71K Disease BRCA1_HUMAN V772A Polymorphism BRCA1_HUMAN Y856H Disease BRCA1_HUMAN D1692N Disease BRCA1_HUMAN P1150S Disease BRCA1_HUMAN S1217Y Disease BRCA1_HUMAN R1443G Polymorphism BRCA1_HUMAN E227K Disease BRCA1_HUMAN R1243G Disease BRCA1_HUMAN S1139I Disease BRCA1_HUMAN K1183R Polymorphism BRCA1_HUMAN P871L Polymorphism BRCA1_HUMAN P1776S Disease BRCA1_HUMAN A1641P Disease BRCA1_HUMAN M1775R Disease BRCA1_HUMAN R1443Q Polymorphism BRCA1_HUMAN I925L Polymorphism BRCA1_HUMAN M1652I Polymorphism BRCA1_HUMAN S1512I Polymorphism BRCA1_HUMAN E1038G Polymorphism BRCA1_HUMAN T826K Disease BRCA1_HUMAN R1204I Disease BRCA1_HUMAN P346S Disease NUGM_HUMAN P249Q Polymorphism PRPF3_HUMAN T494M Disease TGM3L_HUMAN M58V Polymorphism DPCA2_HUMAN C91R Polymorphism SYNP2_HUMAN T573A Polymorphism CO7A1_HUMAN G2040D Disease CO7A1_HUMAN G2046V Disease CO7A1_HUMAN G1519D Disease CO7A1_HUMAN G2003R Disease CO7A1_HUMAN G2348R Disease CO7A1_HUMAN G1776R Disease CO7A1_HUMAN G2055E Disease CO7A1_HUMAN G2040V Disease CO7A1_HUMAN G2034R Disease CO7A1_HUMAN G2040S Disease CO7A1_HUMAN R2008C Disease CO7A1_HUMAN G1791E Disease CO7A1_HUMAN G2749R Disease CO7A1_HUMAN R1772W Disease CO7A1_HUMAN M2798K Disease CO7A1_HUMAN R2008G Disease CO7A1_HUMAN G2025A Disease CO7A1_HUMAN G2034W Disease CO7A1_HUMAN G1347R Disease CO7A1_HUMAN G2006D Disease CO7A1_HUMAN G1982W Disease CO7A1_HUMAN G2006A Disease CO7A1_HUMAN G2674D Disease CO7A1_HUMAN G2028A Disease CO7A1_HUMAN G1812R Disease CO7A1_HUMAN G2251E Disease CO7A1_HUMAN G1703E Disease CO7A1_HUMAN G2740A Disease CO7A1_HUMAN G2064R Disease CO7A1_HUMAN G2028R Disease CO7A1_HUMAN G2076D Disease CO7A1_HUMAN G2674R Disease CO7A1_HUMAN G2713D Disease CO7A1_HUMAN G2653R Disease CO7A1_HUMAN G2623C Disease CO7A1_HUMAN G2287R Disease CO7A1_HUMAN G2569R Disease CO7A1_HUMAN G1522E Disease CO7A1_HUMAN G2316R Disease CO7A1_HUMAN G2037E Disease CO7A1_HUMAN P595L Disease CO7A1_HUMAN R2063W Disease CO7A1_HUMAN G1782R Disease CO7A1_HUMAN G2043R Disease CO7A1_HUMAN G2192S Disease CO7A1_HUMAN G2713R Disease CO7A1_HUMAN G2043W Disease CO7A1_HUMAN G2351R Disease CO7A1_HUMAN G2575R Disease CO7A1_HUMAN G2031S Disease CO7A1_HUMAN G2366S Disease CO7A1_HUMAN G2207R Disease CO7A1_HUMAN G1652R Disease CO7A1_HUMAN G2263V Disease CO7A1_HUMAN G2009R Disease CO7A1_HUMAN G2775S Disease CO7A1_HUMAN G2369S Disease CO7A1_HUMAN G2079R Disease CO7A1_HUMAN K142R Disease CO7A1_HUMAN G2015E Disease CO7A1_HUMAN G2132D Disease CO7A1_HUMAN G2079E Disease CO7A1_HUMAN G2671V Disease CO7A1_HUMAN G2073D Disease CO7A1_HUMAN P1277L Disease CO7A1_HUMAN G2242R Disease CO7A1_HUMAN G2049E Disease CO7A1_HUMAN R2791W Disease CO7A1_HUMAN G1604R Disease CO7A1_HUMAN G1557R Disease FCERB_HUMAN E237G Polymorphism CT052_HUMAN A28P Polymorphism MUC_HUMAN S192G Polymorphism MUC_HUMAN V216G Polymorphism CDC6_HUMAN T299M Polymorphism CDC6_HUMAN D295N Polymorphism CDC6_HUMAN T238A Polymorphism CDC6_HUMAN V441I Polymorphism CDC6_HUMAN R378H Polymorphism TRY1_HUMAN N29T Disease TRY1_HUMAN C139F Disease TRY1_HUMAN K23R Disease TRY1_HUMAN R116C Disease TRY1_HUMAN A16V Disease TRY1_HUMAN R122C Disease TRY1_HUMAN N29I Disease TRY1_HUMAN R122H Disease TRY1_HUMAN D22G Disease TRY1_HUMAN L104P Disease CLD16_HUMAN A209T Disease CLD16_HUMAN G233D Disease CLD16_HUMAN F232C Disease CLD16_HUMAN G198A Disease CLD16_HUMAN L145P Disease CLD16_HUMAN S235F Disease CLD16_HUMAN R149L Disease CLD16_HUMAN L151F Disease CLD16_HUMAN L167P Disease CLD16_HUMAN R216T Disease CLD16_HUMAN G198D Disease CLD16_HUMAN M71R Disease CLD16_HUMAN G239R Disease CLD16_HUMAN L151P Disease CLD16_HUMAN L151W Disease CLD16_HUMAN S235P Disease CLD16_HUMAN G191R Disease CLD16_HUMAN H141D Disease TPSN_HUMAN R260T Polymorphism CTRB1_HUMAN T250A Polymorphism SIAS_HUMAN E68D Polymorphism PO3F4_HUMAN A312V Disease PO3F4_HUMAN K334E Disease PO3F4_HUMAN R330S Disease PO3F4_HUMAN L317W Disease PO3F4_HUMAN R323G Disease LSHB_HUMAN W28R Polymorphism LSHB_HUMAN Q74R Disease LSHB_HUMAN G122S Polymorphism LSHB_HUMAN I35T Polymorphism SMAD2_HUMAN P445H Disease SMAD2_HUMAN L440R Disease SMAD2_HUMAN D450E Disease SMAD2_HUMAN R133C Disease SCG3_HUMAN S125N Polymorphism CDC37_HUMAN G360E Polymorphism UROM_HUMAN C148Y Disease UROM_HUMAN C217R Disease UROM_HUMAN G103C Disease ERCC2_HUMAN R683W Disease ERCC2_HUMAN R683Q Disease ERCC2_HUMAN D234N Disease ERCC2_HUMAN D312N Polymorphism ERCC2_HUMAN D681N Disease ERCC2_HUMAN S541R Disease ERCC2_HUMAN R722W Disease ERCC2_HUMAN A725P Disease ERCC2_HUMAN R601L Disease ERCC2_HUMAN R666W Disease ERCC2_HUMAN R601W Disease ERCC2_HUMAN R592P Disease ERCC2_HUMAN G713R Disease ERCC2_HUMAN L461V Disease ERCC2_HUMAN T76A Disease ERCC2_HUMAN C259Y Disease ERCC2_HUMAN I199M Polymorphism ERCC2_HUMAN H201Y Polymorphism ERCC2_HUMAN Y542C Disease ERCC2_HUMAN L485P Disease ERCC2_HUMAN R112H Disease ERCC2_HUMAN G675R Disease ERCC2_HUMAN R616P Disease ERCC2_HUMAN R511Q Disease ERCC2_HUMAN C663R Disease ERCC2_HUMAN R487G Disease ERCC2_HUMAN K751Q Polymorphism ERCC2_HUMAN R616C Polymorphism ERCC2_HUMAN G47R Disease ERCC2_HUMAN R616W Disease ERCC2_HUMAN R658C Disease ERCC2_HUMAN R658G Disease ERCC2_HUMAN R658H Disease ERCC2_HUMAN A594P Disease ERCC2_HUMAN G602D Disease ERCC2_HUMAN D673G Disease ANFB_HUMAN M93L Polymorphism ANFB_HUMAN R25L Polymorphism ANFB_HUMAN R47H Polymorphism SRBS1_HUMAN R74W Polymorphism UNC5B_HUMAN A516T Polymorphism THAP8_HUMAN K112R Polymorphism AOFA_HUMAN K520R Polymorphism AOFA_HUMAN F314V Polymorphism RK_HUMAN V380D Disease GSCR2_HUMAN R389Q Polymorphism TPA_HUMAN A34D Polymorphism TPA_HUMAN R164W Polymorphism BD01_HUMAN C67S Polymorphism BD01_HUMAN V38I Polymorphism BD01_HUMAN A48V Polymorphism CT128_HUMAN R607Q Polymorphism OXDD_HUMAN Q189E Polymorphism OXDD_HUMAN L255R Polymorphism OXDD_HUMAN H230Y Polymorphism ACRO_HUMAN F166L Polymorphism ACRO_HUMAN L120V Polymorphism LAP4_HUMAN L422P Polymorphism LAP4_HUMAN E674V Polymorphism TR19L_HUMAN A332V Polymorphism NYX_HUMAN A187K Disease NYX_HUMAN N216S Disease NYX_HUMAN N312S Disease NYX_HUMAN L285P Disease NYX_HUMAN L184P Disease NYX_HUMAN A143P Disease NYX_HUMAN P175R Disease NYX_HUMAN L307P Disease NYX_HUMAN G370V Disease NYX_HUMAN F298S Disease NYX_HUMAN P151L Disease NYX_HUMAN C31S Disease NYX_HUMAN L232P Disease NYX_HUMAN L347P Disease NYX_HUMAN N264K Disease NYX_HUMAN L213Q Disease EYA1_HUMAN L583P Disease EYA1_HUMAN R440Q Disease EYA1_HUMAN D429G Disease EYA1_HUMAN S487P Disease EYA1_HUMAN L505R Disease EYA1_HUMAN G426S Disease ANPRB_HUMAN Q771E Polymorphism ANPRB_HUMAN P32T Disease ANPRB_HUMAN D176E Disease ANPRB_HUMAN A409T Disease ANPRB_HUMAN R776W Disease ANPRB_HUMAN T297M Disease ANPRB_HUMAN G413E Disease ANPRB_HUMAN W115G Disease ANPRB_HUMAN Y338C Disease ANPRB_HUMAN Y708C Disease ANPRB_HUMAN R957C Disease ANPRB_HUMAN G959A Disease KKCC2_HUMAN S85T Polymorphism KKCC2_HUMAN R363C Polymorphism ANR15_HUMAN S464A Polymorphism SO1B1_HUMAN E667G Polymorphism SO1B1_HUMAN N130D Polymorphism SO1B1_HUMAN D241N Polymorphism SO1B1_HUMAN R152K Polymorphism SO1B1_HUMAN D462G Polymorphism SO1B1_HUMAN N432D Polymorphism BLMH_HUMAN I443V Polymorphism TENR_HUMAN A128S Polymorphism TENR_HUMAN G293S Polymorphism TENR_HUMAN V17I Polymorphism COX15_HUMAN R217W Disease JMJ2A_HUMAN E482A Polymorphism AP2B_HUMAN R274Q Disease AP2B_HUMAN R289C Disease AP2B_HUMAN R225C Disease AP2B_HUMAN A264D Disease AP2B_HUMAN P62R Disease AP2B_HUMAN R225S Disease GCST_HUMAN N145I Disease GCST_HUMAN E211K Disease GCST_HUMAN G47R Disease GCST_HUMAN G269D Disease GCST_HUMAN H42R Disease GCST_HUMAN R320H Disease GCST_HUMAN D276H Disease KKCC1_HUMAN E375G Polymorphism HSF4_HUMAN I87V Disease HSF4_HUMAN A20D Disease HSF4_HUMAN L115P Disease HSF4_HUMAN R120C Disease AL9A1_HUMAN C116S Polymorphism SNN_HUMAN G88S Polymorphism SNN_HUMAN V17I Polymorphism I10R1_HUMAN G351R Polymorphism I10R1_HUMAN S420L Polymorphism I10R1_HUMAN L61V Polymorphism I10R1_HUMAN V113I Polymorphism I10R1_HUMAN S159G Polymorphism I10R1_HUMAN R212Q Polymorphism I10R1_HUMAN I224V Polymorphism NLGN3_HUMAN R451C Disease HCD2_HUMAN L121V Disease HCD2_HUMAN R129C Disease ARSB_HUMAN L498P Disease ARSB_HUMAN V376M Polymorphism ARSB_HUMAN F399L Disease ARSB_HUMAN G302R Disease ARSB_HUMAN P531R Disease ARSB_HUMAN S384N Disease ARSB_HUMAN R95Q Disease ARSB_HUMAN R152W Disease ARSB_HUMAN W312C Disease ARSB_HUMAN R484G Disease ARSB_HUMAN W146L Disease ARSB_HUMAN Q239R Disease ARSB_HUMAN P116H Disease ARSB_HUMAN R315Q Disease ARSB_HUMAN L236P Disease ARSB_HUMAN M142I Disease ARSB_HUMAN T92M Disease ARSB_HUMAN H393P Disease ARSB_HUMAN S65F Disease ARSB_HUMAN C117R Disease ARSB_HUMAN C192R Disease ARSB_HUMAN V358M Polymorphism ARSB_HUMAN R160Q Disease ARSB_HUMAN Y210C Disease ARSB_HUMAN G144R Disease ARSB_HUMAN C405Y Disease ARSB_HUMAN G137V Disease ARSB_HUMAN C521Y Disease ARSB_HUMAN L321P Disease ARSB_HUMAN W146S Disease ARSB_HUMAN W146R Disease STAT1_HUMAN L706S Disease STAT1_HUMAN L600P Disease CTRL_HUMAN H173R Polymorphism CTL4_HUMAN I187V Polymorphism CTL4_HUMAN R6L Polymorphism CTL4_HUMAN R493C Polymorphism CTL4_HUMAN V326M Polymorphism ESCO1_HUMAN T221M Polymorphism TBX22_HUMAN T260M Disease TBX22_HUMAN G118C Disease TBX22_HUMAN P183L Disease TBX22_HUMAN M121V Disease TBX22_HUMAN L214P Disease TBX22_HUMAN N264Y Disease TBX22_HUMAN E187K Polymorphism WFS1_HUMAN R456H Polymorphism WFS1_HUMAN G437R Disease WFS1_HUMAN A133T Disease WFS1_HUMAN P724L Disease WFS1_HUMAN G736S Disease WFS1_HUMAN A58V Disease WFS1_HUMAN G674R Polymorphism WFS1_HUMAN A559T Polymorphism WFS1_HUMAN C690R Disease WFS1_HUMAN R708C Polymorphism WFS1_HUMAN Y669C Disease WFS1_HUMAN G780R Disease WFS1_HUMAN R611H Polymorphism WFS1_HUMAN P885L Disease WFS1_HUMAN P292S Disease WFS1_HUMAN E737K Polymorphism WFS1_HUMAN R818C Disease WFS1_HUMAN G695V Disease WFS1_HUMAN W700C Disease WFS1_HUMAN I296S Disease WFS1_HUMAN G576S Polymorphism WFS1_HUMAN A684V Polymorphism WFS1_HUMAN S443I Disease WFS1_HUMAN E169K Disease WFS1_HUMAN A126T Disease WFS1_HUMAN I333V Polymorphism WFS1_HUMAN V871M Polymorphism WFS1_HUMAN K193Q Polymorphism WFS1_HUMAN P504L Disease WFS1_HUMAN I720V Polymorphism MPIP3_HUMAN G297R Polymorphism NEK2_HUMAN N354S Polymorphism GP143_HUMAN D78V Disease GP143_HUMAN D78N Disease GP143_HUMAN G229V Disease GP143_HUMAN I244V Disease GP143_HUMAN C116R Disease GP143_HUMAN C116S Disease GP143_HUMAN L39R Disease GP143_HUMAN Q124R Disease GP143_HUMAN I261N Disease GP143_HUMAN R5C Disease GP143_HUMAN G118E Disease GP143_HUMAN G84R Disease GP143_HUMAN E271G Disease GP143_HUMAN S152N Disease GP143_HUMAN G35D Disease GP143_HUMAN A138V Disease GP143_HUMAN G84D Disease GP143_HUMAN T232K Disease GP143_HUMAN E235K Disease GP143_HUMAN W133R Disease GP143_HUMAN W292G Disease GP143_HUMAN A173D Disease GP143_HUMAN E233K Disease GP143_HUMAN W292C Disease RFC3_HUMAN L16V Polymorphism TRPM7_HUMAN T1482I Polymorphism TBX3_HUMAN L143P Disease TBX3_HUMAN Y149S Disease ATCAY_HUMAN S301R Disease MCM8_HUMAN Q63K Polymorphism SCO2_HUMAN E140K Disease SCO2_HUMAN R20P Polymorphism SCO2_HUMAN R171W Disease SCO2_HUMAN S225F Disease RNF39_HUMAN A245T Polymorphism RNF39_HUMAN A304E Polymorphism RNF39_HUMAN S203P Polymorphism RNF39_HUMAN D268N Polymorphism CTNB1_HUMAN S23R Disease CTNB1_HUMAN D32Y Disease CTNB1_HUMAN S45P Disease CTNB1_HUMAN G34R Disease CTNB1_HUMAN S33F Disease CTNB1_HUMAN S37Y Disease CTNB1_HUMAN D32A Disease CTNB1_HUMAN D32G Disease CTNB1_HUMAN S33L Disease CTNB1_HUMAN I35S Disease CTNB1_HUMAN G34E Disease CTNB1_HUMAN S45F Disease CTNB1_HUMAN S37A Disease CTNB1_HUMAN T41I Disease CTNB1_HUMAN M688V Polymorphism CTNB1_HUMAN S37F Disease CTNB1_HUMAN S33Y Disease CTNB1_HUMAN S37C Disease CTNB1_HUMAN T41A Disease BWR1B_HUMAN R133G Polymorphism CCDCF_HUMAN S154T Polymorphism CCDCF_HUMAN Q99H Polymorphism CABC1_HUMAN H85Q Polymorphism TA2R1_HUMAN R111H Polymorphism TA2R1_HUMAN R206W Polymorphism TMBI1_HUMAN L21P Polymorphism COX2_HUMAN L123P Polymorphism COX2_HUMAN I30V Polymorphism COX2_HUMAN A148T Polymorphism COX2_HUMAN V142M Disease COX2_HUMAN T187M Polymorphism COX2_HUMAN D11A Polymorphism NOMO1_HUMAN E1081K Polymorphism NOMO1_HUMAN M493V Polymorphism NOMO1_HUMAN I1141F Polymorphism NOMO1_HUMAN M580V Polymorphism NOMO1_HUMAN K458N Polymorphism NOMO1_HUMAN I404V Polymorphism NOMO1_HUMAN N490D Polymorphism NOMO1_HUMAN R1195G Polymorphism BMR1B_HUMAN I200K Disease BMR1B_HUMAN R486W Disease THIL_HUMAN T297M Disease THIL_HUMAN A301P Disease THIL_HUMAN G379V Disease THIL_HUMAN A380T Disease THIL_HUMAN I312T Disease THIL_HUMAN G152A Disease THIL_HUMAN A5P Polymorphism THIL_HUMAN N93S Disease THIL_HUMAN G183R Disease THIL_HUMAN A333P Disease THIL_HUMAN N158D Disease BMP15_HUMAN Y235C Disease ARRS_HUMAN I76V Polymorphism ARRS_HUMAN V378I Polymorphism ARRS_HUMAN P364L Polymorphism ARRS_HUMAN R384C Polymorphism ARRS_HUMAN T125M Polymorphism ARRS_HUMAN R84C Polymorphism CENG2_HUMAN E829K Polymorphism OR1D2_HUMAN R25Q Polymorphism ES1_HUMAN L248V Polymorphism PLOD3_HUMAN R286W Polymorphism PSB9_HUMAN R60H Polymorphism PDE6B_HUMAN H258N Disease PDE6B_HUMAN R74C Disease PDE6B_HUMAN G576D Disease PDE6B_HUMAN R552Q Disease PDE6B_HUMAN Y219H Disease PDE6B_HUMAN L527P Disease PDE6B_HUMAN L699R Disease PDE6B_HUMAN I535N Disease PDE6B_HUMAN L854R Disease PDE6B_HUMAN L228I Polymorphism PDE6B_HUMAN L228H Disease PDE6B_HUMAN E166K Polymorphism PDE6B_HUMAN Y212H Polymorphism PDE6B_HUMAN H557Y Disease P2RY5_HUMAN C137W Polymorphism P2RY5_HUMAN I33V Polymorphism LPIN1_HUMAN P610S Polymorphism AL3A2_HUMAN C214Y Disease AL3A2_HUMAN R228C Disease AL3A2_HUMAN K447E Disease AL3A2_HUMAN L106R Disease AL3A2_HUMAN D245N Disease AL3A2_HUMAN P114L Disease AL3A2_HUMAN N386S Disease AL3A2_HUMAN F419S Disease AL3A2_HUMAN I45F Disease AL3A2_HUMAN S415N Disease AL3A2_HUMAN C226W Disease AL3A2_HUMAN V64D Disease AL3A2_HUMAN R423H Disease AL3A2_HUMAN P315S Disease AL3A2_HUMAN Y279N Disease AL3A2_HUMAN C237Y Disease AL3A2_HUMAN H411Y Disease AL3A2_HUMAN K266N Disease AL3A2_HUMAN G412R Disease AL3A2_HUMAN M328I Disease AL3A2_HUMAN G185A Disease AL3A2_HUMAN T184R Disease AL3A2_HUMAN S365L Disease AL3A2_HUMAN P121L Disease AL3A2_HUMAN T184M Disease AL3A2_HUMAN G406R Disease IRK2_HUMAN G300V Disease IRK2_HUMAN D71V Disease IRK2_HUMAN R67W Disease IRK2_HUMAN V302M Disease IRK2_HUMAN N216H Disease IRK2_HUMAN P186L Disease IRK2_HUMAN D172N Disease IRK2_HUMAN R218W Disease STX11_HUMAN E31Q Polymorphism STX11_HUMAN L204H Polymorphism ZIM2_HUMAN A110T Polymorphism IAPP_HUMAN S53G Polymorphism ARL14_HUMAN I170L Polymorphism SPNXE_HUMAN V68L Polymorphism S6A20_HUMAN A9G Polymorphism FAAA_HUMAN W234G Disease FAAA_HUMAN F62C Disease FAAA_HUMAN P342L Disease FAAA_HUMAN G207D Disease FAAA_HUMAN P261L Disease FAAA_HUMAN D233V Disease FAAA_HUMAN G369V Disease FAAA_HUMAN R341W Disease FAAA_HUMAN Q64H Disease FAAA_HUMAN A134D Disease FAAA_HUMAN G158D Disease FAAA_HUMAN T294P Disease FAAA_HUMAN V166G Disease FAAA_HUMAN F405H Disease FAAA_HUMAN C193R Disease FAAA_HUMAN N16I Disease FAAA_HUMAN P249T Disease FAAA_HUMAN G337S Disease FAAA_HUMAN R381G Disease CNTN1_HUMAN V798L Polymorphism XYLT2_HUMAN T801R Polymorphism XYLT2_HUMAN T305R Polymorphism S14L3_HUMAN D335E Polymorphism BAAT_HUMAN M76V Disease NDF4_HUMAN K68T Polymorphism NU1M_HUMAN A52T Disease NU1M_HUMAN Y304H Disease NU1M_HUMAN L285P Disease NU1M_HUMAN T168A Polymorphism NU1M_HUMAN S205P Polymorphism NU1M_HUMAN Y255C Polymorphism NU1M_HUMAN Y277C Polymorphism NU1M_HUMAN A4T Disease NU1M_HUMAN T87A Polymorphism NU1M_HUMAN M31V Disease NU1M_HUMAN L288P Polymorphism NU1M_HUMAN Y30H Disease NU1M_HUMAN M31T Disease SRY_HUMAN F109S Disease SRY_HUMAN G95R Disease SRY_HUMAN R76S Disease SRY_HUMAN S91G Disease SRY_HUMAN G95E Disease SRY_HUMAN F67V Disease SRY_HUMAN R62G Disease SRY_HUMAN S18N Disease SRY_HUMAN P108R Disease SRY_HUMAN V60A Disease SRY_HUMAN A113T Disease SRY_HUMAN M78T Disease SRY_HUMAN I90M Disease SRY_HUMAN V60L Disease SRY_HUMAN R133W Disease SRY_HUMAN M64I Disease SRY_HUMAN L101H Disease SRY_HUMAN M64R Disease SRY_HUMAN N87Y Disease SRY_HUMAN Y127F Disease SRY_HUMAN I68T Disease SRY_HUMAN K106I Disease SRY_HUMAN Y127C Disease SRY_HUMAN P131R Disease SRY_HUMAN P125L Disease PCDA8_HUMAN S78N Polymorphism PCDA8_HUMAN N403T Polymorphism GGH_HUMAN C6R Polymorphism SCN1A_HUMAN R1648H Disease SCN1A_HUMAN T875M Disease SCN1A_HUMAN D188V Disease SCN1A_HUMAN L986F Disease SCN1A_HUMAN A1067T Polymorphism SCN1A_HUMAN I1656M Disease SCN1A_HUMAN W1204R Disease SCN1A_HUMAN K1270T Disease SCN1A_HUMAN V1353L Disease TR13B_HUMAN A181G Disease TR13B_HUMAN C104R Disease TR13B_HUMAN R202H Disease MOS2L_HUMAN E168K Disease ASIP_HUMAN V13A Polymorphism ASIP_HUMAN Q61P Polymorphism K0310_HUMAN R861C Polymorphism 1C02_HUMAN S364C Polymorphism 1C02_HUMAN K202T Polymorphism 1C02_HUMAN E5A Polymorphism 1C02_HUMAN I10L Polymorphism 1C02_HUMAN N92K Polymorphism 1C02_HUMAN E179Q Polymorphism 1B48_HUMAN S121R Polymorphism 1A30_HUMAN Q86E Polymorphism 1A30_HUMAN W176R Polymorphism 1A30_HUMAN R80G Polymorphism 1A30_HUMAN Q94H Polymorphism 1A30_HUMAN H21Q Polymorphism 1A30_HUMAN S33Y Polymorphism 1A30_HUMAN T55A Polymorphism 1A30_HUMAN L180W Polymorphism 1C03_HUMAN K90N Polymorphism 1C03_HUMAN V127L Polymorphism 1C03_HUMAN N104K Polymorphism 1C03_HUMAN Y140S Polymorphism 1C03_HUMAN I118T Polymorphism 1C03_HUMAN D138V Polymorphism 1C03_HUMAN S101N Polymorphism 1C03_HUMAN G115R Polymorphism 1C03_HUMAN I119L Polymorphism 1C03_HUMAN R121S Polymorphism 1A31_HUMAN A114D Polymorphism 1A31_HUMAN N90K Polymorphism 1A31_HUMAN Q138R Polymorphism 1A31_HUMAN M121I Polymorphism 1B38_HUMAN N101S Polymorphism 1B38_HUMAN C91F Polymorphism 1B38_HUMAN N87E Polymorphism 1B38_HUMAN S35A Polymorphism 1B38_HUMAN E69T Polymorphism 1B38_HUMAN E82G Polymorphism 1B38_HUMAN Y98D Polymorphism 1B38_HUMAN I104T Polymorphism 1B38_HUMAN C91S Polymorphism 1B38_HUMAN T187M Polymorphism 1C07_HUMAN E201K Polymorphism 1C07_HUMAN Y123S Polymorphism 1C07_HUMAN L171W Polymorphism 1C07_HUMAN N104K Polymorphism 1C07_HUMAN T363A Polymorphism 1C07_HUMAN L180D Polymorphism 1C07_HUMAN A348V Polymorphism 1C07_HUMAN S101N Polymorphism 1C07_HUMAN N90K Polymorphism 1C07_HUMAN T187L Polymorphism 1C07_HUMAN M331K Polymorphism 1C07_HUMAN L119F Polymorphism 1C07_HUMAN S140F Polymorphism 1A34_HUMAN R121I Polymorphism 1A34_HUMAN K90N Polymorphism 1A34_HUMAN L312I Polymorphism 1A34_HUMAN P129S Polymorphism 1A34_HUMAN Q138R Polymorphism 1A34_HUMAN I3V Polymorphism 1A34_HUMAN W180L Polymorphism 1B67_HUMAN A93R Polymorphism 1B67_HUMAN N87E Polymorphism 1B67_HUMAN I76V Polymorphism 1B67_HUMAN I90K Polymorphism 1B67_HUMAN T97A Polymorphism 1B67_HUMAN E69G Polymorphism 1B67_HUMAN E100V Polymorphism 1B27_HUMAN H138D Polymorphism 1B27_HUMAN D140H Polymorphism 1B27_HUMAN D101N Polymorphism 1B27_HUMAN Y83H Polymorphism 1B27_HUMAN V176E Polymorphism 1B27_HUMAN D140Y Polymorphism 1B27_HUMAN T104N Polymorphism 1B27_HUMAN D101S Polymorphism 1B27_HUMAN S155R Polymorphism 1B27_HUMAN A235G Polymorphism 1B27_HUMAN N121S Polymorphism 1A74_HUMAN G103A Polymorphism 1A74_HUMAN N90K Polymorphism 1A74_HUMAN Q86G Polymorphism 1A74_HUMAN R23W Polymorphism 1A74_HUMAN T97A Polymorphism 1C08_HUMAN L180R Polymorphism 1C08_HUMAN T176E Polymorphism 1C08_HUMAN G199R Polymorphism 1C08_HUMAN T162K Polymorphism 1B53_HUMAN N101S Polymorphism 1B53_HUMAN Y123S Polymorphism 1B53_HUMAN I118T Polymorphism 1B53_HUMAN L127V Polymorphism 1B53_HUMAN V176E Polymorphism 1B53_HUMAN N101D Polymorphism 1B53_HUMAN Y195H Polymorphism 1B53_HUMAN S140F Polymorphism 1B58_HUMAN V176A Polymorphism 1B58_HUMAN W171L Polymorphism 1B58_HUMAN G86E Polymorphism 1B58_HUMAN R121W Polymorphism 1B58_HUMAN L187T Polymorphism 1C16_HUMAN S101N Polymorphism 1C16_HUMAN C157W Polymorphism 1C16_HUMAN N104K Polymorphism 1C16_HUMAN Q180W Polymorphism 1C16_HUMAN H153D Polymorphism 1B15_HUMAN A48S Polymorphism 1B15_HUMAN E87N Polymorphism 1B15_HUMAN L119W Polymorphism 1B15_HUMAN S91Y Polymorphism 1B15_HUMAN R121T Polymorphism 1B15_HUMAN H137Y Polymorphism 1B15_HUMAN S91C Polymorphism 1B15_HUMAN P274L Polymorphism 1B15_HUMAN W180L Polymorphism 1C17_HUMAN L10I Polymorphism 1C17_HUMAN A24T Polymorphism 1B35_HUMAN A48S Polymorphism 1B35_HUMAN S140Y Polymorphism 1B35_HUMAN N87E Polymorphism 1B35_HUMAN L127V Polymorphism 1B35_HUMAN L133F Polymorphism 1B35_HUMAN F91S Polymorphism 1B35_HUMAN G107D Polymorphism 1B35_HUMAN Y98D Polymorphism 1B35_HUMAN G40V Polymorphism 1B35_HUMAN T69E Polymorphism 1B35_HUMAN D138N Polymorphism 1B35_HUMAN L180R Polymorphism 1B35_HUMAN R121S Polymorphism 1B35_HUMAN S140F Polymorphism 1A26_HUMAN D140N Polymorphism 1A26_HUMAN E176V Polymorphism 1A26_HUMAN A100E Polymorphism 1A26_HUMAN N90K Polymorphism 1A26_HUMAN R187L Polymorphism 1A26_HUMAN I306V Polymorphism 1A26_HUMAN F60L Polymorphism 1A26_HUMAN W180Q Polymorphism 1B45_HUMAN S191W Polymorphism 1B45_HUMAN Q139R Polymorphism 1A02_HUMAN M162K Polymorphism 1A02_HUMAN V119L Polymorphism 1A02_HUMAN H94Q Polymorphism 1A02_HUMAN H98D Polymorphism 1A02_HUMAN A260E Polymorphism 1A02_HUMAN K90N Polymorphism 1A02_HUMAN F33Y Polymorphism 1A02_HUMAN V176E Polymorphism 1A02_HUMAN L180Q Polymorphism 1A02_HUMAN L180W Polymorphism 1A02_HUMAN Q67R Polymorphism 1A02_HUMAN R121M Polymorphism 1A02_HUMAN W131G Polymorphism 1A02_HUMAN D54N Polymorphism 1A02_HUMAN W191G Polymorphism 1A02_HUMAN A173T Polymorphism 1A02_HUMAN T97I Polymorphism 1A02_HUMAN E190D Polymorphism 1A02_HUMAN Y123C Polymorphism 1A02_HUMAN T187E Polymorphism 1A02_HUMAN Y123F Polymorphism 1A02_HUMAN A65G Polymorphism 1B52_HUMAN E176V Polymorphism 1B52_HUMAN H195Y Polymorphism 1B44_HUMAN D180R Polymorphism 1B44_HUMAN N101S Polymorphism 1B44_HUMAN T65A Polymorphism 1B44_HUMAN D140Y Polymorphism 1B44_HUMAN L187T Polymorphism 1B44_HUMAN D85E Polymorphism 1B44_HUMAN E87N Polymorphism 1B44_HUMAN D180L Polymorphism 1B78_HUMAN D98Y Polymorphism 1B78_HUMAN F91C Polymorphism 1A03_HUMAN D185E Polymorphism 1A03_HUMAN E176V Polymorphism 1A03_HUMAN L180Q Polymorphism 1A03_HUMAN G199R Polymorphism 1C06_HUMAN W180L Polymorphism 1C06_HUMAN D33Y Polymorphism 1B56_HUMAN L127V Polymorphism 1B56_HUMAN L140S Polymorphism 1B56_HUMAN E69T Polymorphism 1B56_HUMAN L180W Polymorphism 1B56_HUMAN L140Y Polymorphism 1B56_HUMAN S101N Polymorphism 1B56_HUMAN W119L Polymorphism 1B56_HUMAN V176E Polymorphism 1B56_HUMAN T121R Polymorphism 1B56_HUMAN N138D Polymorphism 1B56_HUMAN Y195H Polymorphism 1A29_HUMAN H126D Polymorphism 1A29_HUMAN N90H Polymorphism 1B07_HUMAN V306I Polymorphism 1B07_HUMAN E187L Polymorphism 1B07_HUMAN R180D Polymorphism 1B07_HUMAN S121R Polymorphism 1B07_HUMAN D138N Polymorphism 1B57_HUMAN S140Y Polymorphism 1B57_HUMAN V121R Polymorphism 1B57_HUMAN V127L Polymorphism 1B57_HUMAN H137Y Polymorphism 1B57_HUMAN D138N Polymorphism 1B57_HUMAN L180R Polymorphism 1B47_HUMAN T104N Polymorphism 1B47_HUMAN D101S Polymorphism 1B39_HUMAN N87E Polymorphism 1B39_HUMAN F140S Polymorphism 1B39_HUMAN S35A Polymorphism 1B39_HUMAN V36M Polymorphism 1B39_HUMAN D98Y Polymorphism 1B39_HUMAN L119W Polymorphism 1B39_HUMAN Q168R Polymorphism 1B39_HUMAN Y33D Polymorphism 1B39_HUMAN Y123S Polymorphism 1B39_HUMAN C91S Polymorphism 1B39_HUMAN M122T Polymorphism 1B39_HUMAN L180R Polymorphism 1B39_HUMAN R121S Polymorphism 1B39_HUMAN N138D Polymorphism 1B39_HUMAN R121T Polymorphism 1B39_HUMAN C91Y Polymorphism 1B37_HUMAN T104N Polymorphism 1B37_HUMAN Y195H Polymorphism 1B42_HUMAN Y33H Polymorphism 1B54_HUMAN Y33H Polymorphism 1A66_HUMAN R187E Polymorphism 1A66_HUMAN S28W Polymorphism 1A66_HUMAN D114A Polymorphism 1C15_HUMAN H45R Polymorphism 1C15_HUMAN T97A Polymorphism 1C15_HUMAN G40S Polymorphism 1C15_HUMAN L140F Polymorphism 1C15_HUMAN H137Y Polymorphism 1C15_HUMAN N90K Polymorphism 1C15_HUMAN L140S Polymorphism 1B14_HUMAN L180R Polymorphism 1B14_HUMAN S35A Polymorphism 1C18_HUMAN V319A Polymorphism 1C14_HUMAN S101N Polymorphism 1C14_HUMAN R45H Polymorphism 1C14_HUMAN T97A Polymorphism 1C04_HUMAN M327V Polymorphism 1C04_HUMAN R180L Polymorphism 1C04_HUMAN V52L Polymorphism 1C04_HUMAN G40S Polymorphism 1C04_HUMAN E73A Polymorphism 1C04_HUMAN R45H Polymorphism 1C04_HUMAN W38R Polymorphism 1C04_HUMAN S35A Polymorphism 1C04_HUMAN S33Y Polymorphism 1A11_HUMAN R187T Polymorphism 1A11_HUMAN H175R Polymorphism 1A11_HUMAN E43K Polymorphism 1A11_HUMAN T345S Polymorphism 1A11_HUMAN F133L Polymorphism 1A11_HUMAN K168E Polymorphism 1A11_HUMAN A176E Polymorphism 1B08_HUMAN D180R Polymorphism 1B08_HUMAN N87D Polymorphism 1B08_HUMAN N138D Polymorphism 1B08_HUMAN F91S Polymorphism 1B08_HUMAN L119W Polymorphism 1B08_HUMAN S101N Polymorphism 1B08_HUMAN V176E Polymorphism 1B08_HUMAN S121R Polymorphism 1B08_HUMAN Y140D Polymorphism 1B08_HUMAN S121T Polymorphism 1B08_HUMAN D180L Polymorphism 1C01_HUMAN S364C Polymorphism 1C01_HUMAN Y140S Polymorphism 1C01_HUMAN W243R Polymorphism 1C01_HUMAN E5A Polymorphism 1C01_HUMAN M272V Polymorphism 1C01_HUMAN N92K Polymorphism 1C01_HUMAN S202T Polymorphism 1C01_HUMAN E179Q Polymorphism 1C01_HUMAN D138N Polymorphism 1C01_HUMAN V328M Polymorphism 1C01_HUMAN R180W Polymorphism 1C01_HUMAN Y140F Polymorphism 1B41_HUMAN V127L Polymorphism 1B41_HUMAN R121S Polymorphism 1B41_HUMAN N104K Polymorphism 1B41_HUMAN N138D Polymorphism 1B41_HUMAN W119L Polymorphism 1A68_HUMAN S129P Polymorphism 1A68_HUMAN W180Q Polymorphism 1A68_HUMAN V36M Polymorphism 1A68_HUMAN T97I Polymorphism 1A68_HUMAN D140H Polymorphism 1A68_HUMAN Q94H Polymorphism 1A68_HUMAN R138H Polymorphism 1A68_HUMAN M121R Polymorphism 1A68_HUMAN D140Y Polymorphism 1A68_HUMAN D140V Polymorphism 1A68_HUMAN D98H Polymorphism 1A68_HUMAN H175L Polymorphism 1A68_HUMAN W180L Polymorphism 1A68_HUMAN R138E Polymorphism 1B13_HUMAN L140S Polymorphism 1B13_HUMAN L169R Polymorphism 1B13_HUMAN Y183C Polymorphism 1B13_HUMAN E187L Polymorphism 1B13_HUMAN N138D Polymorphism 1B13_HUMAN T121R Polymorphism 1B82_HUMAN D186G Polymorphism 1B49_HUMAN K69T Polymorphism 1B49_HUMAN L56Q Polymorphism 1B49_HUMAN I104T Polymorphism 1B49_HUMAN T65A Polymorphism 1B49_HUMAN T48A Polymorphism 1A24_HUMAN A5G Polymorphism 1A24_HUMAN T187R Polymorphism 1A24_HUMAN L119V Polymorphism 1A24_HUMAN Q180L Polymorphism 1A24_HUMAN Q180W Polymorphism 1A24_HUMAN T206A Polymorphism 1A24_HUMAN H27Q Polymorphism 1A24_HUMAN M121R Polymorphism 1A24_HUMAN G131W Polymorphism 1A24_HUMAN G89R Polymorphism 1A24_HUMAN E86G Polymorphism 1A24_HUMAN F123Y Polymorphism 1A23_HUMAN K151N Polymorphism 1A23_HUMAN Y31C Polymorphism 1A23_HUMAN L180W Polymorphism 1B51_HUMAN E176V Polymorphism 1B51_HUMAN S155R Polymorphism 1B51_HUMAN W191G Polymorphism 1B51_HUMAN H195Y Polymorphism 1B51_HUMAN L180D Polymorphism 1C05_HUMAN F140S Polymorphism 1C05_HUMAN N138D Polymorphism 1C05_HUMAN A223V Polymorphism 1C05_HUMAN K201E Polymorphism 1C05_HUMAN V218I Polymorphism 1B55_HUMAN E176V Polymorphism 1B55_HUMAN E82A Polymorphism 1B55_HUMAN L127V Polymorphism 1B55_HUMAN S155R Polymorphism 1B55_HUMAN L140Y Polymorphism 1B55_HUMAN S101N Polymorphism 1B55_HUMAN W119L Polymorphism 1B55_HUMAN T187L Polymorphism 1B55_HUMAN L180R Polymorphism 1B55_HUMAN T121S Polymorphism 1B55_HUMAN T121R Polymorphism 1B55_HUMAN T187E Polymorphism 1C12_HUMAN K90N Polymorphism 1C12_HUMAN W180R Polymorphism 1C12_HUMAN G144V Polymorphism 1C12_HUMAN N104K Polymorphism 1C12_HUMAN S101N Polymorphism 1C12_HUMAN S101G Polymorphism 1C12_HUMAN A97T Polymorphism 1C12_HUMAN R121W Polymorphism 1A33_HUMAN M358V Polymorphism 1A33_HUMAN R41S Polymorphism 1A33_HUMAN H195Y Polymorphism 1A25_HUMAN H94Q Polymorphism 1A25_HUMAN Y33F Polymorphism 1A01_HUMAN A100E Polymorphism 1A01_HUMAN F33S Polymorphism 1A01_HUMAN M91V Polymorphism 1A01_HUMAN I121M Polymorphism 1A01_HUMAN R180L Polymorphism 1A01_HUMAN R41S Polymorphism 1A01_HUMAN G80R Polymorphism 1A01_HUMAN D114A Polymorphism 1A01_HUMAN V182A Polymorphism 1B40_HUMAN L9V Polymorphism 1B40_HUMAN L119W Polymorphism 1B40_HUMAN N138D Polymorphism 1B40_HUMAN Q204E Polymorphism 1B40_HUMAN E87N Polymorphism 1B40_HUMAN V127L Polymorphism 1B40_HUMAN Y140S Polymorphism 1B40_HUMAN V17L Polymorphism 1B40_HUMAN S121R Polymorphism 1B40_HUMAN S91F Polymorphism 1B40_HUMAN V176E Polymorphism 1B40_HUMAN L180R Polymorphism 1B40_HUMAN W171L Polymorphism 1B40_HUMAN T167S Polymorphism 1B40_HUMAN Y140N Polymorphism 1B40_HUMAN S121T Polymorphism 1B40_HUMAN E187L Polymorphism 1B40_HUMAN H137Y Polymorphism 1A32_HUMAN Q138R Polymorphism 1A32_HUMAN L133F Polymorphism 1A32_HUMAN P129S Polymorphism 1A32_HUMAN M121I Polymorphism 1A32_HUMAN S101N Polymorphism 1A32_HUMAN R175H Polymorphism 1A32_HUMAN Q168K Polymorphism 1A32_HUMAN E185D Polymorphism 1A32_HUMAN V176E Polymorphism 1A32_HUMAN L180Q Polymorphism 1B46_HUMAN D98G Polymorphism 1B18_HUMAN N87E Polymorphism 1B18_HUMAN H195Y Polymorphism 1B18_HUMAN R121N Polymorphism 1B18_HUMAN Y98D Polymorphism 1B18_HUMAN S91F Polymorphism 1B18_HUMAN L180R Polymorphism 1B18_HUMAN T187E Polymorphism 1B50_HUMAN L127V Polymorphism 1B50_HUMAN W191S Polymorphism 1A36_HUMAN E185D Polymorphism 1A36_HUMAN V182A Polymorphism SSF1_HUMAN G358V Polymorphism RRS1_HUMAN R191L Polymorphism CRUM2_HUMAN H746Q Polymorphism CRUM2_HUMAN P46L Disease CRUM2_HUMAN P116L Disease CRUM2_HUMAN A351T Disease CRUM2_HUMAN E187D Disease CRUM2_HUMAN T1110M Polymorphism CRUM2_HUMAN G159A Polymorphism CRUM2_HUMAN M145T Polymorphism CRUM2_HUMAN V97L Disease CRUM2_HUMAN R610W Polymorphism CRUM2_HUMAN R534Q Disease IL2RG_HUMAN F227C Disease IL2RG_HUMAN N84K Disease IL2RG_HUMAN Y105C Disease IL2RG_HUMAN L293Q Disease IL2RG_HUMAN R222C Disease IL2RG_HUMAN R226C Disease IL2RG_HUMAN Y89C Disease IL2RG_HUMAN G114D Disease IL2RG_HUMAN R226H Disease IL2RG_HUMAN L172Q Disease IL2RG_HUMAN L172P Disease IL2RG_HUMAN H123P Disease IL2RG_HUMAN R285Q Disease IL2RG_HUMAN Q144P Disease IL2RG_HUMAN L162H Disease IL2RG_HUMAN G232R Disease IL2RG_HUMAN R224W Disease IL2RG_HUMAN L230P Disease IL2RG_HUMAN D39N Disease IL2RG_HUMAN A156V Disease IL2RG_HUMAN W240C Disease IL2RG_HUMAN C182R Disease IL2RG_HUMAN C231Y Disease IL2RG_HUMAN L183S Disease IL2RG_HUMAN S241I Disease IL2RG_HUMAN Y125N Disease IL2RG_HUMAN C115R Disease IL2RG_HUMAN C62G Disease IL2RG_HUMAN M270R Disease IL2RG_HUMAN E68K Disease IL2RG_HUMAN C115F Disease IL2RG_HUMAN E68G Disease IL2RG_HUMAN E109K Polymorphism IL2RG_HUMAN I153N Disease CI055_HUMAN T977A Polymorphism CI055_HUMAN N1054H Polymorphism MYH14_HUMAN I266V Polymorphism MYH14_HUMAN L976F Disease MYH14_HUMAN N1559S Polymorphism MYH14_HUMAN G376C Disease MYH14_HUMAN R726S Disease LIPA1_HUMAN V71I Polymorphism SAP3_HUMAN C138R Disease SAP3_HUMAN R169P Disease SAP3_HUMAN T19A Polymorphism MMP3_HUMAN K45E Polymorphism SPEE_HUMAN L149V Polymorphism VTNC_HUMAN T400M Polymorphism VTNC_HUMAN A122S Polymorphism VTNC_HUMAN R268Q Polymorphism CKLF2_HUMAN I122T Polymorphism DFFB_HUMAN R196K Polymorphism STK11_HUMAN D194N Disease STK11_HUMAN R297K Disease STK11_HUMAN L67P Disease FOXN1_HUMAN R69C Polymorphism FOXN1_HUMAN A283V Polymorphism FOXN1_HUMAN R411W Polymorphism FOXN1_HUMAN A599P Polymorphism ERD23_HUMAN V199G Polymorphism UDB7_HUMAN H268Y Polymorphism UDB4_HUMAN F396L Polymorphism UDB4_HUMAN D458E Polymorphism UDB4_HUMAN F109L Polymorphism ITA7_HUMAN H695R Polymorphism RL3R2_HUMAN L329S Polymorphism NALP1_HUMAN R1366C Polymorphism NALP1_HUMAN R404Q Polymorphism AMBN_HUMAN L354P Polymorphism PYC_HUMAN M743I Disease PYC_HUMAN V145A Disease PYC_HUMAN R451C Disease PYC_HUMAN A610T Disease NMD3B_HUMAN R404W Polymorphism NMD3B_HUMAN T577M Polymorphism NMD3B_HUMAN A845T Polymorphism NMD3B_HUMAN T157M Polymorphism NMD3B_HUMAN W414R Polymorphism CJ078_HUMAN D81G Polymorphism ITLN2_HUMAN R103H Polymorphism ITLN1_HUMAN R313P Polymorphism ITLN1_HUMAN V109D Polymorphism LRBA_HUMAN S2809L Polymorphism TRAF5_HUMAN N186H Polymorphism ZBT11_HUMAN G44S Polymorphism ZN304_HUMAN L121P Polymorphism PELO_HUMAN M221L Polymorphism TM50A_HUMAN F141L Polymorphism TM50A_HUMAN A58V Polymorphism MYL3_HUMAN E55G Disease MYL3_HUMAN R153H Disease MYL3_HUMAN M148V Disease MYL3_HUMAN E142K Disease AT12A_HUMAN P866L Polymorphism AOAH_HUMAN A166T Polymorphism AP1G1_HUMAN H684P Polymorphism PDE6A_HUMAN S343R Disease ADAS_HUMAN R419H Disease CUL3_HUMAN D13H Polymorphism CUL3_HUMAN V567I Polymorphism M10L1_HUMAN R182C Polymorphism M10L1_HUMAN Q820R Polymorphism M10L1_HUMAN I454L Polymorphism M10L1_HUMAN A1179E Polymorphism M10L1_HUMAN V650I Polymorphism LPLC1_HUMAN S479T Polymorphism LPLC1_HUMAN I84V Polymorphism LPLC1_HUMAN S313I Polymorphism LPLC1_HUMAN S298P Polymorphism MRP4_HUMAN V860M Polymorphism MRP4_HUMAN E757K Polymorphism MRP4_HUMAN V900L Polymorphism MRP4_HUMAN G187W Polymorphism MRP4_HUMAN K304N Polymorphism MRP4_HUMAN M744V Polymorphism MRP4_HUMAN K498E Polymorphism MRP4_HUMAN M184T Polymorphism STS_HUMAN C446Y Disease STS_HUMAN S341L Disease STS_HUMAN Q560P Disease STS_HUMAN W372R Disease STS_HUMAN W372S Disease STS_HUMAN H444R Disease STS_HUMAN G380R Disease GFI1_HUMAN K403R Disease GFI1_HUMAN N382S Disease AMHR2_HUMAN R406Q Disease AMHR2_HUMAN D426G Disease AMHR2_HUMAN D491H Disease AMHR2_HUMAN R54C Disease AMHR2_HUMAN V458A Disease AMHR2_HUMAN H282Q Disease AMHR2_HUMAN R504C Disease AMHR2_HUMAN G142V Disease KNG1_HUMAN G163S Polymorphism KNG1_HUMAN L212P Polymorphism KNG1_HUMAN M178T Polymorphism CBPA5_HUMAN L336S Polymorphism CBPA5_HUMAN P79S Polymorphism CBPA5_HUMAN E338D Polymorphism ATP8_HUMAN F21S Polymorphism ATP8_HUMAN L17P Polymorphism ATP8_HUMAN M28T Polymorphism MYOM2_HUMAN T776M Polymorphism MYOM2_HUMAN L1022F Polymorphism VCAM1_HUMAN I716L Polymorphism VCAM1_HUMAN G413A Polymorphism VCAM1_HUMAN S318F Polymorphism VCAM1_HUMAN T384A Polymorphism SCN9A_HUMAN L869H Disease SCN9A_HUMAN D1919G Polymorphism SCN9A_HUMAN R1161W Polymorphism SCN9A_HUMAN I859T Disease G6PD_HUMAN R438P Disease G6PD_HUMAN G409D Disease G6PD_HUMAN V67M Polymorphism G6PD_HUMAN R197P Disease G6PD_HUMAN V393L Disease G6PD_HUMAN N125D Polymorphism G6PD_HUMAN R386C Disease DGKI_HUMAN L153F Polymorphism ORCT2_HUMAN R293Q Polymorphism ORCT2_HUMAN R70C Disease ORCT2_HUMAN S217F Disease 2AAB_HUMAN L101P Disease 2AAB_HUMAN P65S Disease 2AAB_HUMAN G8R Disease 2AAB_HUMAN L499I Disease 2AAB_HUMAN D504G Disease 2AAB_HUMAN G15A Disease 2AAB_HUMAN V500G Disease 2AAB_HUMAN S365P Disease 2AAB_HUMAN V545A Disease 2AAB_HUMAN V498E Disease 2AAB_HUMAN G90D Disease 2AAB_HUMAN V448A Disease 2AAB_HUMAN K343E Disease GIMA4_HUMAN E128D Polymorphism STX2_HUMAN S42T Polymorphism MKRN1_HUMAN V243L Polymorphism REL2_HUMAN P68Q Polymorphism S3TC2_HUMAN E657K Disease S3TC2_HUMAN R658C Disease S3TC2_HUMAN R529Q Disease S3TC2_HUMAN A468S Polymorphism CO6A3_HUMAN D2831H Polymorphism CO6A3_HUMAN G1679E Disease TYK2_HUMAN R197H Polymorphism TYK2_HUMAN G363S Polymorphism TYK2_HUMAN V362F Polymorphism TYK2_HUMAN I684S Polymorphism TYK2_HUMAN R4H Polymorphism ABCG8_HUMAN R263Q Disease ABCG8_HUMAN G574R Disease ABCG8_HUMAN M655V Polymorphism ABCG8_HUMAN D19H Polymorphism ABCG8_HUMAN G575R Polymorphism ABCG8_HUMAN R405H Disease ABCG8_HUMAN Y641F Polymorphism ABCG8_HUMAN A259V Polymorphism ABCG8_HUMAN L596R Disease ABCG8_HUMAN V210M Polymorphism ABCG8_HUMAN E238K Polymorphism ABCG8_HUMAN G574E Disease ABCG8_HUMAN R184H Disease ABCG8_HUMAN T400K Polymorphism ABCG8_HUMAN V632A Polymorphism ABCG8_HUMAN R543S Disease ABCG8_HUMAN P231T Disease ABCG8_HUMAN Y54C Polymorphism ABCG8_HUMAN L501P Disease ABCG8_HUMAN L572P Disease DSS1_HUMAN D17G Polymorphism ZNF24_HUMAN S220N Polymorphism ZNF24_HUMAN G331W Polymorphism ENP6_HUMAN L138V Polymorphism SPB11_HUMAN I181T Polymorphism SPB11_HUMAN M148T Polymorphism MYLK2_HUMAN A86V Disease MYLK2_HUMAN A94E Disease VGFR3_HUMAN T494A Polymorphism VGFR3_HUMAN H890Q Polymorphism VGFR3_HUMAN P1114L Disease VGFR3_HUMAN L1044P Disease VGFR3_HUMAN P954S Disease VGFR3_HUMAN H1035R Disease VGFR3_HUMAN G857R Disease VGFR3_HUMAN R1041P Disease VGFR3_HUMAN R1146H Polymorphism VGFR3_HUMAN P1137S Disease MMP9_HUMAN N127K Polymorphism MMP9_HUMAN E82K Polymorphism MMP9_HUMAN A20V Polymorphism MMP9_HUMAN R279Q Polymorphism MMP9_HUMAN R668Q Polymorphism NOGG_HUMAN P35R Disease NOGG_HUMAN P35S Disease NOGG_HUMAN P223L Disease NOGG_HUMAN G189C Disease NOGG_HUMAN I220N Disease NOGG_HUMAN Y222C Disease NOGG_HUMAN C184Y Disease NOGG_HUMAN W217G Disease NOGG_HUMAN R204L Disease NOGG_HUMAN Y222D Disease TMM25_HUMAN Q342R Polymorphism SPAST_HUMAN A551Y Disease SPAST_HUMAN R503L Disease SPAST_HUMAN T615I Disease SPAST_HUMAN S407R Disease SPAST_HUMAN L534P Disease SPAST_HUMAN D584H Disease SPAST_HUMAN T614I Disease SPAST_HUMAN M390V Disease SPAST_HUMAN C448Y Disease SPAST_HUMAN S44L Disease SPAST_HUMAN L378Q Disease SPAST_HUMAN S362C Disease SPAST_HUMAN R424G Disease SPAST_HUMAN N386S Disease SPAST_HUMAN R499C Disease SPAST_HUMAN I344K Disease CNRG_HUMAN P27H Polymorphism GAB2_HUMAN P344L Polymorphism FKBP2_HUMAN C97Y Polymorphism FKBP2_HUMAN A25T Polymorphism SIA7A_HUMAN V80A Polymorphism APG16_HUMAN T300A Polymorphism GLPC_HUMAN K124E Polymorphism GLI3_HUMAN D440E Polymorphism GLI3_HUMAN C515G Disease GLI3_HUMAN R1537C Polymorphism GLI3_HUMAN I808M Disease GLI3_HUMAN G727R Disease GLI3_HUMAN C520Y Disease GLI3_HUMAN R625W Disease GLI3_HUMAN A934P Disease GLI3_HUMAN P707S Disease AMNLS_HUMAN T41I Disease PAR1_HUMAN S166G Polymorphism DRD3_HUMAN S9G Polymorphism ZNF74_HUMAN E117K Polymorphism RB_HUMAN K530R Disease RB_HUMAN R358G Disease RB_HUMAN L662P Disease RB_HUMAN E137D Disease RB_HUMAN S567L Disease RB_HUMAN A525G Polymorphism RB_HUMAN V654E Disease RB_HUMAN R500G Disease RB_HUMAN C712R Disease RB_HUMAN K447Q Disease RB_HUMAN H673P Disease RB_HUMAN E72Q Disease RB_HUMAN C706Y Disease RB_HUMAN G310E Disease RB_HUMAN N803K Disease RB_HUMAN R358Q Disease RB_HUMAN K616E Disease RB_HUMAN Q436K Polymorphism RB_HUMAN A635P Disease RB_HUMAN I185T Disease RB_HUMAN Q685P Disease RB_HUMAN R661W Disease RB_HUMAN M457R Disease RB_HUMAN L657P Disease RB_HUMAN H549Y Disease PARD3_HUMAN E107D Polymorphism 2DRA_HUMAN V242L Polymorphism CRCM_HUMAN R267L Disease CRCM_HUMAN R506Q Disease CRCM_HUMAN A698V Disease CRCM_HUMAN P486L Disease CRCM_HUMAN S490L Disease F13B_HUMAN E388V Polymorphism F13B_HUMAN D569E Polymorphism F13B_HUMAN M49V Polymorphism F13B_HUMAN H350R Polymorphism F13B_HUMAN H115R Polymorphism F13B_HUMAN L529P Polymorphism F13B_HUMAN Y543S Polymorphism F13B_HUMAN I342T Polymorphism MGR4_HUMAN V797I Polymorphism DDX18_HUMAN T94S Polymorphism HRX_HUMAN A53V Polymorphism HRX_HUMAN S3773A Polymorphism HRX_HUMAN G30A Polymorphism HRX_HUMAN S2319T Polymorphism HRX_HUMAN V3714I Polymorphism HRX_HUMAN P2354R Polymorphism HRX_HUMAN E502K Polymorphism HRX_HUMAN Q2387R Polymorphism IHH_HUMAN D100N Disease IHH_HUMAN P46L Disease IHH_HUMAN E95K Disease IHH_HUMAN D100E Disease IHH_HUMAN E131K Disease IHH_HUMAN V190A Disease NMD3A_HUMAN N835D Polymorphism NMD3A_HUMAN R487G Polymorphism NMD3A_HUMAN M362V Polymorphism NMD3A_HUMAN R1041Q Polymorphism MUTA_HUMAN Q293P Disease MUTA_HUMAN G703R Disease MUTA_HUMAN G717V Disease MUTA_HUMAN A535P Disease MUTA_HUMAN H627R Disease MUTA_HUMAN G648D Disease MUTA_HUMAN G94V Disease MUTA_HUMAN R228Q Disease MUTA_HUMAN R93H Disease MUTA_HUMAN H678R Disease MUTA_HUMAN R532H Polymorphism MUTA_HUMAN A137V Disease MUTA_HUMAN V671I Polymorphism MUTA_HUMAN Q624R Disease MUTA_HUMAN G312V Disease MUTA_HUMAN G203R Disease MUTA_HUMAN A377E Disease MUTA_HUMAN A324T Disease MUTA_HUMAN I69V Polymorphism MUTA_HUMAN N219Y Disease MUTA_HUMAN Q218H Disease MUTA_HUMAN L617R Disease MUTA_HUMAN A191E Disease MUTA_HUMAN K621N Disease MUTA_HUMAN V633G Disease MUTA_HUMAN V368D Disease MUTA_HUMAN R369H Disease MUTA_HUMAN L685R Disease MUTA_HUMAN L328P Disease MUTA_HUMAN W105R Disease MUTA_HUMAN P615T Disease MUTA_HUMAN Q109R Disease MUTA_HUMAN R108H Disease MUTA_HUMAN G158V Disease MUTA_HUMAN R694W Disease MUTA_HUMAN L328F Disease MUTA_HUMAN V669E Disease MUTA_HUMAN D156N Disease MUTA_HUMAN F174S Disease MUTA_HUMAN G630E Disease MUTA_HUMAN M700K Disease MUTA_HUMAN Y231N Disease MUTA_HUMAN F638I Disease MUTA_HUMAN D640Y Disease MUTA_HUMAN G623R Disease MUTA_HUMAN R616C Disease MUTA_HUMAN G637E Disease MUTA_HUMAN S262N Disease MUTA_HUMAN G215S Disease MUTA_HUMAN G626C Disease MUTA_HUMAN G642R Disease MUTA_HUMAN A499T Polymorphism MUTA_HUMAN S148L Disease MUTA_HUMAN Y587C Disease HPS3_HUMAN R397W Disease PEX7_HUMAN A218V Disease PEX7_HUMAN T14P Disease PEX7_HUMAN G217R Disease BSCL2_HUMAN S90L Disease BSCL2_HUMAN A212P Disease BSCL2_HUMAN N88S Disease PTHR1_HUMAN H223R Disease PTHR1_HUMAN I458R Disease PTHR1_HUMAN T410P Disease PTHR1_HUMAN R150C Disease PTHR1_HUMAN P132L Disease NFASC_HUMAN T159M Polymorphism ADH6_HUMAN I114V Polymorphism ADH6_HUMAN C102G Polymorphism TRAP1_HUMAN R307G Polymorphism VHL_HUMAN F76L Disease VHL_HUMAN F119S Disease VHL_HUMAN F76I Disease VHL_HUMAN E70K Disease VHL_HUMAN P154L Disease VHL_HUMAN T157I Disease VHL_HUMAN F119L Disease VHL_HUMAN G114C Disease VHL_HUMAN F76S Disease VHL_HUMAN L128F Disease VHL_HUMAN L118P Disease VHL_HUMAN S38P Disease VHL_HUMAN L116V Disease VHL_HUMAN D143E Disease VHL_HUMAN L184R Disease VHL_HUMAN L184P Disease VHL_HUMAN G93C Disease VHL_HUMAN N78H Disease VHL_HUMAN V74G Disease VHL_HUMAN W117C Disease VHL_HUMAN Q145H Disease VHL_HUMAN N78S Disease VHL_HUMAN N78T Disease VHL_HUMAN Q164R Disease VHL_HUMAN R79P Disease VHL_HUMAN Y112H Disease VHL_HUMAN P86L Disease VHL_HUMAN P86H Disease VHL_HUMAN P86A Disease VHL_HUMAN E52K Disease VHL_HUMAN P86R Disease VHL_HUMAN P86S Disease VHL_HUMAN K159E Disease VHL_HUMAN G93D Disease VHL_HUMAN V170G Disease VHL_HUMAN V170F Disease VHL_HUMAN V170D Disease VHL_HUMAN G93S Disease VHL_HUMAN L178Q Disease VHL_HUMAN L178P Disease VHL_HUMAN D121G Disease VHL_HUMAN G114R Disease VHL_HUMAN G114S Disease VHL_HUMAN S65L Disease VHL_HUMAN S65W Disease VHL_HUMAN I180V Disease VHL_HUMAN V84L Disease VHL_HUMAN R167W Disease VHL_HUMAN Q96P Disease VHL_HUMAN L89H Disease VHL_HUMAN R167Q Disease VHL_HUMAN L89P Disease VHL_HUMAN R167G Disease VHL_HUMAN R107P Disease VHL_HUMAN R200W Disease VHL_HUMAN Y98H Disease VHL_HUMAN P81S Disease VHL_HUMAN Y156C Disease VHL_HUMAN Y156D Disease VHL_HUMAN W88S Disease VHL_HUMAN W88R Disease VHL_HUMAN L101R Disease VHL_HUMAN T105P Disease VHL_HUMAN S111R Disease VHL_HUMAN N131K Disease VHL_HUMAN S80R Disease VHL_HUMAN V155G Disease VHL_HUMAN S80N Disease VHL_HUMAN S80I Disease VHL_HUMAN S111N Disease VHL_HUMAN L101G Disease VHL_HUMAN S111C Disease VHL_HUMAN V155M Disease VHL_HUMAN R82P Disease VHL_HUMAN C162Y Disease VHL_HUMAN C162W Disease VHL_HUMAN C162R Disease VHL_HUMAN C162F Disease VHL_HUMAN R161G Disease VHL_HUMAN A149T Disease VHL_HUMAN R161Q Disease VHL_HUMAN R161P Disease VHL_HUMAN L158V Disease VHL_HUMAN G106D Disease VHL_HUMAN L198R Disease VHL_HUMAN V166D Disease VHL_HUMAN V166F Disease VHL_HUMAN Y175D Disease VHL_HUMAN Q164H Disease VHL_HUMAN R176W Disease VHL_HUMAN L188P Disease VHL_HUMAN L188Q Disease VHL_HUMAN L188V Disease VHL_HUMAN H115Q Disease VHL_HUMAN H115R Disease VHL_HUMAN H115Y Disease VHL_HUMAN E186K Disease VHL_HUMAN L118R Disease VHL_HUMAN V130L Disease VHL_HUMAN L158P Disease VHL_HUMAN S68W Disease VHL_HUMAN F136C Disease VHL_HUMAN F136Y Disease VHL_HUMAN N131T Disease VHL_HUMAN F136S Disease PLS4_HUMAN S34N Polymorphism PLS4_HUMAN V155I Polymorphism NOS3_HUMAN E297D Polymorphism RP9_HUMAN D170G Disease RP9_HUMAN H137L Disease RP9_HUMAN K210R Polymorphism ITB2_HUMAN L149P Disease ITB2_HUMAN P178L Disease ITB2_HUMAN G273R Disease ITB2_HUMAN D128N Disease ITB2_HUMAN G284S Disease ITB2_HUMAN G169R Disease ITB2_HUMAN K196T Disease ITB2_HUMAN N351S Disease ITB2_HUMAN R593C Disease ITB2_HUMAN R586W Disease ITB2_HUMAN S138P Disease CDC27_HUMAN Y496H Polymorphism SHH_HUMAN S236R Disease SHH_HUMAN A110D Disease SHH_HUMAN P347Q Disease SHH_HUMAN E188Q Disease SHH_HUMAN I111F Disease SHH_HUMAN L271P Disease SHH_HUMAN I354T Disease SHH_HUMAN R381P Disease SHH_HUMAN R6T Disease SHH_HUMAN P424A Disease SHH_HUMAN N115K Disease SHH_HUMAN S436L Disease SHH_HUMAN V224E Disease SHH_HUMAN T150R Disease SHH_HUMAN W117R Disease SHH_HUMAN W117G Disease SHH_HUMAN G31R Disease SHH_HUMAN A226T Disease SHH_HUMAN A383T Disease SHH_HUMAN V332A Disease SHH_HUMAN D222N Disease SHH_HUMAN Q100H Disease SHH_HUMAN G290D Disease SHH_HUMAN D88V Disease ATF6A_HUMAN A145P Polymorphism ATF6A_HUMAN M67L Polymorphism ATF6A_HUMAN M67V Polymorphism ATF6A_HUMAN P157S Polymorphism ALG6_HUMAN S308R Disease ALG6_HUMAN G227E Disease ALG6_HUMAN S478P Disease ALG6_HUMAN F304S Polymorphism ALG6_HUMAN S170I Disease ALG6_HUMAN A333V Disease ALG6_HUMAN Y131H Disease KIF6_HUMAN R719W Polymorphism ITB4_HUMAN C562R Disease ITB4_HUMAN R283C Disease ITB4_HUMAN L336P Disease ITB4_HUMAN R1281W Disease ITB4_HUMAN D131Y Disease ITB4_HUMAN C245G Disease ITB4_HUMAN L156P Disease ITB4_HUMAN R1225H Disease ITB4_HUMAN R252C Disease ITB4_HUMAN R98H Polymorphism ITB4_HUMAN C38R Disease ITB4_HUMAN V325D Disease ITB4_HUMAN C61Y Disease ITB4_HUMAN H1216Q Polymorphism ITB4_HUMAN G931D Disease ITB4_HUMAN G273D Disease ITB4_HUMAN R844L Polymorphism GYS1_HUMAN K130E Polymorphism GYS1_HUMAN E359G Polymorphism GYS1_HUMAN E619Q Polymorphism GYS1_HUMAN P691A Polymorphism GYS1_HUMAN M416V Polymorphism GYS1_HUMAN N283S Polymorphism TLR3_HUMAN L412F Polymorphism DNJB7_HUMAN E41A Polymorphism TRFR_HUMAN N10K Polymorphism PPBI_HUMAN H298L Polymorphism SETB2_HUMAN M473V Polymorphism 41_HUMAN V214I Polymorphism TIMP3_HUMAN G189C Disease TIMP3_HUMAN S179C Disease TIMP3_HUMAN S204C Disease TIMP3_HUMAN G190C Disease TIMP3_HUMAN Y191C Disease LGUL_HUMAN A110E Polymorphism SC6A2_HUMAN A457P Disease SC6A2_HUMAN F528C Polymorphism SC6A2_HUMAN V69I Polymorphism SC6A2_HUMAN V356L Polymorphism SC6A2_HUMAN V245I Polymorphism SC6A2_HUMAN K463R Polymorphism SC6A2_HUMAN I549T Polymorphism SC6A2_HUMAN N292T Polymorphism SC6A2_HUMAN A369P Polymorphism SC6A2_HUMAN N375S Polymorphism SC6A2_HUMAN T99I Polymorphism SC6A2_HUMAN T283R Polymorphism SC6A2_HUMAN G478S Polymorphism SC6A2_HUMAN Y548H Polymorphism SC6A2_HUMAN V449I Polymorphism MATN2_HUMAN E356K Polymorphism CLAT_HUMAN R420C Disease CLAT_HUMAN A120T Polymorphism CLAT_HUMAN R560H Disease CLAT_HUMAN L210P Disease CLAT_HUMAN S498L Disease CLAT_HUMAN V506L Disease CLAT_HUMAN E441K Disease CLAT_HUMAN I305T Disease CLAT_HUMAN P211A Disease CLAT_HUMAN A392G Polymorphism CLAT_HUMAN R482G Disease PTN12_HUMAN T573A Polymorphism PTN12_HUMAN K61R Disease PTN12_HUMAN I322V Polymorphism CGL_HUMAN S403I Polymorphism CY1_HUMAN L89V Polymorphism MEF2D_HUMAN P434S Polymorphism LDHA_HUMAN K221E Polymorphism SMAD4_HUMAN R361C Disease SMAD4_HUMAN G386D Disease SMAD4_HUMAN G352R Disease SMAD4_HUMAN D493H Disease SMAD4_HUMAN E330G Disease BMP8B_HUMAN H293R Polymorphism CRAL_HUMAN R233W Disease CRAL_HUMAN R150Q Disease GLGB_HUMAN R515C Disease GLGB_HUMAN H628R Disease GLGB_HUMAN F257L Disease GLGB_HUMAN H545R Disease GLGB_HUMAN Y329S Disease GLGB_HUMAN L224P Disease GLGB_HUMAN R515H Disease GLGB_HUMAN R524Q Disease GLGB_HUMAN R190G Polymorphism CP2CI_HUMAN T385M Polymorphism HNRPU_HUMAN L711F Polymorphism FER_HUMAN V439L Polymorphism LEPR_HUMAN S675T Polymorphism LEPR_HUMAN K656N Polymorphism LEPR_HUMAN K204R Polymorphism LEPR_HUMAN K109R Polymorphism LEPR_HUMAN Q223R Polymorphism PPA5_HUMAN V200M Polymorphism PPA5_HUMAN V148M Polymorphism TSYL3_HUMAN P246H Polymorphism DCUP_HUMAN N304K Disease DCUP_HUMAN L282R Disease DCUP_HUMAN G318R Disease DCUP_HUMAN R292G Disease DCUP_HUMAN M324T Disease DCUP_HUMAN I260T Disease DCUP_HUMAN F229L Disease DCUP_HUMAN R142Q Disease DCUP_HUMAN P235S Disease DCUP_HUMAN M165R Disease DCUP_HUMAN I334T Disease DCUP_HUMAN R193P Disease DCUP_HUMAN E167K Disease DCUP_HUMAN A80G Disease DCUP_HUMAN G25E Disease DCUP_HUMAN G281E Disease DCUP_HUMAN F46L Disease DCUP_HUMAN L195F Disease DCUP_HUMAN G303S Disease DCUP_HUMAN V134Q Disease DCUP_HUMAN R144P Disease DCUP_HUMAN G281V Disease DCUP_HUMAN A80S Disease DCUP_HUMAN P62L Disease DCUP_HUMAN L253Q Disease DCUP_HUMAN S219F Disease DCUP_HUMAN L216Q Disease DCUP_HUMAN R332H Disease DCUP_HUMAN F232L Disease DCUP_HUMAN H220P Disease DCUP_HUMAN L161Q Disease DCUP_HUMAN E218K Disease DCUP_HUMAN Y311C Disease DCUP_HUMAN G156D Disease SEPP1_HUMAN P112S Polymorphism SEPP1_HUMAN R278Q Polymorphism SEPP1_HUMAN A234T Polymorphism SEPP1_HUMAN S314P Polymorphism SEPP1_HUMAN R368C Polymorphism MAAI_HUMAN N133H Polymorphism MAAI_HUMAN T82M Polymorphism MAAI_HUMAN K32E Polymorphism MAAI_HUMAN R42G Polymorphism NUBM_HUMAN A341V Disease NUBM_HUMAN N277Y Polymorphism NUBM_HUMAN I76V Polymorphism NUBM_HUMAN T423M Disease MYO1B_HUMAN E969K Disease SEN54_HUMAN N347K Polymorphism SEN54_HUMAN V437A Polymorphism SEN54_HUMAN H38Q Polymorphism SEN54_HUMAN Q35E Polymorphism SEN54_HUMAN D4E Polymorphism ACVL1_HUMAN R67Q Disease ACVL1_HUMAN I245N Polymorphism ACVL1_HUMAN R374W Disease ACVL1_HUMAN W50C Disease ACVL1_HUMAN R411Q Disease ACVL1_HUMAN N96D Disease ACVL1_HUMAN S333I Disease ACVL1_HUMAN M376R Disease ACVL1_HUMAN C77W Disease ACVL1_HUMAN C51Y Disease ACVL1_HUMAN P424T Disease IMB3_HUMAN T969I Polymorphism IMB3_HUMAN Y905C Polymorphism IMB3_HUMAN L286I Polymorphism IMB3_HUMAN E525K Polymorphism IMB3_HUMAN E549K Polymorphism APT_HUMAN M135T Disease APT_HUMAN L109P Disease APT_HUMAN Q120R Polymorphism APT_HUMAN C152R Disease APT_HUMAN V149F Disease APT_HUMAN D64V Disease BCL2_HUMAN T7S Polymorphism BCL2_HUMAN A43T Polymorphism BCL2_HUMAN V93I Disease BCL2_HUMAN P59S Disease GLCNE_HUMAN F528C Disease GLCNE_HUMAN V572L Disease GLCNE_HUMAN A460V Disease GLCNE_HUMAN A630T Disease GLCNE_HUMAN I557T Disease GLCNE_HUMAN Y675H Disease GLCNE_HUMAN M171V Disease GLCNE_HUMAN R263L Disease GLCNE_HUMAN A600T Disease GLCNE_HUMAN C303V Disease GLCNE_HUMAN D378Y Disease GLCNE_HUMAN P36L Disease GLCNE_HUMAN V331A Disease GLCNE_HUMAN V216A Disease GLCNE_HUMAN R177C Disease GLCNE_HUMAN M712T Disease GLCNE_HUMAN V696M Disease GLCNE_HUMAN P27S Disease GLCNE_HUMAN I472T Disease GLCNE_HUMAN R246W Disease GLCNE_HUMAN A631V Disease GLCNE_HUMAN D225N Disease GLCNE_HUMAN A631T Disease GLCNE_HUMAN R246Q Disease GLCNE_HUMAN R162C Disease GLCNE_HUMAN G576E Disease GLCNE_HUMAN R266W Disease GLCNE_HUMAN R266Q Disease GLCNE_HUMAN A524V Disease GLCNE_HUMAN N519S Disease GLCNE_HUMAN H132Q Disease GLCNE_HUMAN I200F Disease GLCNE_HUMAN D176V Disease GLCNE_HUMAN I587T Disease GLCNE_HUMAN R306Q Disease GLCNE_HUMAN G206S Disease HXA13_HUMAN Q371L Disease HXA13_HUMAN N372H Disease OX1R_HUMAN I408V Polymorphism MSH4_HUMAN Y589C Polymorphism MSH4_HUMAN A90T Polymorphism MSH4_HUMAN E162K Polymorphism MSH4_HUMAN A97T Polymorphism MSH4_HUMAN S914N Polymorphism MSH4_HUMAN A60V Polymorphism COAA1_HUMAN L644R Disease COAA1_HUMAN Q653P Disease COAA1_HUMAN G618V Disease COAA1_HUMAN N617K Disease COAA1_HUMAN W651R Disease COAA1_HUMAN V603M Polymorphism COAA1_HUMAN Y598D Disease COAA1_HUMAN Y582D Disease COAA1_HUMAN S600P Disease COAA1_HUMAN S671P Disease COAA1_HUMAN G18R Disease COAA1_HUMAN G595R Disease COAA1_HUMAN M27T Polymorphism COAA1_HUMAN G595E Disease COAA1_HUMAN G18E Disease COAA1_HUMAN G545R Polymorphism COAA1_HUMAN C591R Disease COAA1_HUMAN D648G Disease COAA1_HUMAN L614P Disease COAA1_HUMAN Y597H Disease COAA1_HUMAN R198H Polymorphism COAA1_HUMAN Y597C Disease PTPRT_HUMAN Y412F Disease PTPRT_HUMAN V648G Disease PTPRT_HUMAN F74S Disease PTPRT_HUMAN A707T Disease PTPRT_HUMAN A707V Disease PTPRT_HUMAN N510K Disease PTPRT_HUMAN R790I Disease PTPRT_HUMAN A209T Disease PTPRT_HUMAN K218T Disease PTPRT_HUMAN R453C Disease PTPRT_HUMAN T1368M Disease PTPRT_HUMAN L708P Disease PTPRT_HUMAN Q987K Disease PTPRT_HUMAN Y1351F Disease PTPRT_HUMAN M1259L Disease PTPRT_HUMAN A1118P Disease PTPRT_HUMAN Y280H Disease PTPRT_HUMAN F248S Disease PTPRT_HUMAN V1269M Disease PTPRT_HUMAN N1128I Disease PTPRT_HUMAN R1346L Disease PTPRT_HUMAN R1212W Disease PTPRT_HUMAN D927G Disease PTPRT_HUMAN I395V Disease PTPRT_HUMAN T605M Disease T2R38_HUMAN A49P Polymorphism T2R38_HUMAN I296V Polymorphism T2R38_HUMAN A262V Polymorphism PINK1_HUMAN P305L Polymorphism PINK1_HUMAN G309D Disease PINK1_HUMAN A340T Polymorphism PINK1_HUMAN N521T Polymorphism BAT4_HUMAN A235V Polymorphism DRIM_HUMAN E2612Q Polymorphism DRIM_HUMAN S502C Polymorphism 3BHS1_HUMAN F285L Polymorphism 3BHS1_HUMAN I78V Polymorphism 3BHS1_HUMAN T366N Polymorphism 3BHS2_HUMAN S212G Disease 3BHS2_HUMAN P185L Disease 3BHS2_HUMAN P154L Disease 3BHS2_HUMAN A81T Disease 3BHS2_HUMAN E93Q Polymorphism 3BHS2_HUMAN T258M Disease 3BHS2_HUMAN L172R Disease 3BHS2_HUMAN G128R Disease 3BHS2_HUMAN L204P Disease 3BHS2_HUMAN T258R Disease 3BHS2_HUMAN Y253D Disease 3BHS2_HUMAN K215E Disease 3BHS2_HUMAN G14D Disease 3BHS2_HUMAN P221H Disease 3BHS2_HUMAN A166V Disease 3BHS2_HUMAN P221Q Disease 3BHS2_HUMAN P221T Disease 3BHS2_HUMAN N99S Disease 3BHS2_HUMAN L107W Disease 3BHS2_HUMAN E141K Disease 3BHS2_HUMAN L235S Disease 3BHS2_HUMAN A244P Disease 3BHS2_HUMAN A9E Disease 3BHS2_HUMAN Y252N Disease 3BHS2_HUMAN G293V Disease 3BHS2_HUMAN A9V Disease SREC2_HUMAN L774V Polymorphism SREC2_HUMAN E773D Polymorphism SREC2_HUMAN A815G Polymorphism SREC2_HUMAN A833G Polymorphism GPNMB_HUMAN N197H Polymorphism GPNMB_HUMAN S195C Polymorphism 5HT7R_HUMAN T92K Polymorphism 5HT7R_HUMAN P279L Polymorphism STXB2_HUMAN V526I Polymorphism FBX34_HUMAN I470N Polymorphism FBX34_HUMAN L533P Polymorphism SURF6_HUMAN T175M Polymorphism SURF6_HUMAN R163W Polymorphism SURF6_HUMAN T311M Polymorphism HMDH_HUMAN I638V Polymorphism NFKB1_HUMAN M506V Polymorphism NFKB1_HUMAN T489I Polymorphism NFKB1_HUMAN R578K Polymorphism NFKB1_HUMAN A901T Polymorphism NFKB1_HUMAN H711Q Polymorphism NFKB1_HUMAN T566I Polymorphism ATG4B_HUMAN Q354L Polymorphism ODBA_HUMAN Y413C Disease ODBA_HUMAN I326T Disease ODBA_HUMAN G290R Disease ODBA_HUMAN A253T Disease ODBA_HUMAN Q190K Disease ODBA_HUMAN R159W Disease ODBA_HUMAN F409C Disease ODBA_HUMAN Y438N Disease GRIPE_HUMAN T931A Polymorphism ACET_HUMAN R705Q Polymorphism ACET_HUMAN T342M Polymorphism ACET_HUMAN I444T Polymorphism ACET_HUMAN Q722P Polymorphism ACET_HUMAN S32P Polymorphism ACET_HUMAN T613M Polymorphism ACET_HUMAN S49G Polymorphism ACET_HUMAN R712S Polymorphism ACET_HUMAN F477V Polymorphism MRP3_HUMAN R1348C Polymorphism MRP3_HUMAN S607N Polymorphism MRP3_HUMAN R1297H Polymorphism MRP3_HUMAN R1381S Polymorphism MRP3_HUMAN S346F Polymorphism MRP3_HUMAN Q1365R Polymorphism GDNF_HUMAN T154S Disease GDNF_HUMAN D150N Disease GDNF_HUMAN P21S Disease GDNF_HUMAN I211M Disease GDNF_HUMAN R93W Disease DRD4_HUMAN P329A Polymorphism DRD4_HUMAN G332S Polymorphism DRD4_HUMAN V194G Polymorphism KPBB_HUMAN A117P Disease KPBB_HUMAN Q656K Polymorphism KPBB_HUMAN Y769C Polymorphism B4GT2_HUMAN Q122H Polymorphism USH3A_HUMAN M44K Disease ABCA1_HUMAN I1517R Disease ABCA1_HUMAN A255T Disease ABCA1_HUMAN I883M Polymorphism ABCA1_HUMAN V399A Polymorphism ABCA1_HUMAN V771M Polymorphism ABCA1_HUMAN A1046D Disease ABCA1_HUMAN N935S Disease ABCA1_HUMAN D1289N Disease ABCA1_HUMAN R230C Disease ABCA1_HUMAN T929I Disease ABCA1_HUMAN S1181F Polymorphism ABCA1_HUMAN V825I Polymorphism ABCA1_HUMAN R1587K Polymorphism ABCA1_HUMAN A937V Disease ABCA1_HUMAN Q597R Disease ABCA1_HUMAN T774P Polymorphism ABCA1_HUMAN T1555I Polymorphism ABCA1_HUMAN N1800H Disease ABCA1_HUMAN P1648L Polymorphism ABCA1_HUMAN P2168L Polymorphism ABCA1_HUMAN P2150L Disease ABCA1_HUMAN C1477R Disease ABCA1_HUMAN P85L Disease ABCA1_HUMAN S1506L Disease ABCA1_HUMAN E1172D Polymorphism ABCA1_HUMAN R219K Polymorphism ABCA1_HUMAN S1731C Polymorphism ABCA1_HUMAN M1091T Disease ABCA1_HUMAN D1099Y Disease ABCA1_HUMAN R2081W Disease ABCA1_HUMAN K776N Polymorphism ABCA1_HUMAN W590S Disease ABCA1_HUMAN R587W Disease AGM1_HUMAN D466N Polymorphism ETFB_HUMAN R164Q Disease ETFB_HUMAN T154M Polymorphism SMOX_HUMAN H522Y Polymorphism KLKB1_HUMAN A178T Polymorphism KLKB1_HUMAN A210E Polymorphism KLKB1_HUMAN H208P Polymorphism KLKB1_HUMAN Q442P Polymorphism KLKB1_HUMAN F311V Polymorphism KLKB1_HUMAN N143S Polymorphism KLKB1_HUMAN S381A Polymorphism KLKB1_HUMAN S269C Polymorphism KLKB1_HUMAN R560Q Polymorphism KLKB1_HUMAN T358A Polymorphism KLKB1_HUMAN H202Q Polymorphism PCCB_HUMAN R165Q Disease PCCB_HUMAN R44P Disease PCCB_HUMAN R165W Disease PCCB_HUMAN R512C Disease PCCB_HUMAN A468T Disease PCCB_HUMAN G131R Disease PCCB_HUMAN G198D Disease PCCB_HUMAN G112D Disease PCCB_HUMAN I430L Disease PCCB_HUMAN E168K Disease PCCB_HUMAN A153P Disease PCCB_HUMAN G188R Disease PCCB_HUMAN L519P Disease PCCB_HUMAN V107M Disease PCCB_HUMAN R410W Disease PCCB_HUMAN M442T Disease PCCB_HUMAN N536D Disease PCCB_HUMAN S106R Disease PCCB_HUMAN Y439C Disease PCCB_HUMAN G246V Disease PCCB_HUMAN L17M Disease PCCB_HUMAN Y435C Disease PCCB_HUMAN T428I Disease PCCB_HUMAN P228L Disease PCCB_HUMAN R67S Disease PCCB_HUMAN A497V Disease PCCB_HUMAN V205D Disease CP4B1_HUMAN S322G Polymorphism CP4B1_HUMAN R340C Polymorphism CP4B1_HUMAN V345I Polymorphism CP4B1_HUMAN R173W Polymorphism CP4B1_HUMAN R375C Polymorphism CP4B1_HUMAN M331I Polymorphism ABCG1_HUMAN F668L Polymorphism MOTI_HUMAN V15A Polymorphism NUAK1_HUMAN P543R Polymorphism IL1F7_HUMAN D218N Polymorphism IL1F7_HUMAN G31V Polymorphism IL1F7_HUMAN R152W Polymorphism IL1F7_HUMAN W164R Polymorphism IL1F7_HUMAN P108L Polymorphism IL1F7_HUMAN T42A Polymorphism SFTA1_HUMAN R219W Polymorphism SFTA1_HUMAN L50V Polymorphism SFTA1_HUMAN N9T Polymorphism SFTA1_HUMAN Q223K Polymorphism SFTA1_HUMAN V19A Polymorphism SFTA2_HUMAN A91P Polymorphism SFTA2_HUMAN N9T Polymorphism SFTA2_HUMAN Q223K Polymorphism SFTA2_HUMAN V50L Polymorphism AT5G2_HUMAN S58I Polymorphism AT5G2_HUMAN M141K Polymorphism SP100_HUMAN M433V Polymorphism TULP1_HUMAN R420P Disease TULP1_HUMAN I259T Disease TULP1_HUMAN I459K Disease TULP1_HUMAN N261T Disease TULP1_HUMAN T454M Disease TULP1_HUMAN K489R Disease TULP1_HUMAN R67T Polymorphism TULP1_HUMAN A496T Disease TULP1_HUMAN A245V Disease TULP1_HUMAN F491L Disease TULP1_HUMAN R378H Disease MIS_HUMAN R123W Disease MIS_HUMAN V12G Disease MIS_HUMAN V477A Disease MIS_HUMAN I49S Polymorphism MIS_HUMAN Q185E Polymorphism MIS_HUMAN L70P Disease MIS_HUMAN R194C Disease MIS_HUMAN Y167C Disease MIS_HUMAN G101V Disease MIS_HUMAN Q325R Polymorphism K0319_HUMAN T142P Polymorphism K0319_HUMAN A311T Disease S26A6_HUMAN V206M Polymorphism HEXB_HUMAN A543T Disease HEXB_HUMAN P417L Disease HEXB_HUMAN S255R Disease HEXB_HUMAN P504S Disease HEXB_HUMAN R505Q Disease HEXB_HUMAN I207V Polymorphism HEXB_HUMAN K121R Polymorphism HEXB_HUMAN C309Y Disease HEXB_HUMAN C534Y Disease HEXB_HUMAN Y456S Disease HEXB_HUMAN S62L Disease AT11C_HUMAN C114W Polymorphism ABP1_HUMAN H645D Polymorphism CAH9_HUMAN V33M Polymorphism CAH9_HUMAN Q326R Polymorphism AIPL1_HUMAN D90H Polymorphism AIPL1_HUMAN C239R Disease VLDLR_HUMAN V59I Polymorphism VLDLR_HUMAN E379K Polymorphism PARVB_HUMAN V58A Polymorphism LPPRC_HUMAN A233V Disease ARY1_HUMAN R117T Polymorphism ARY1_HUMAN M205V Polymorphism ARY1_HUMAN R187Q Polymorphism ARY1_HUMAN T207I Polymorphism ARY1_HUMAN S214A Polymorphism ARY1_HUMAN D251V Polymorphism ARY1_HUMAN I263V Polymorphism ARY1_HUMAN V149I Polymorphism ARY1_HUMAN E261K Polymorphism ARY1_HUMAN R64W Polymorphism HEATR_HUMAN E2017G Polymorphism HEATR_HUMAN N1967D Polymorphism HEATR_HUMAN V1854A Polymorphism HEATR_HUMAN N1694S Polymorphism PCDB7_HUMAN V389L Polymorphism MSHR_HUMAN R162P Polymorphism MSHR_HUMAN V60L Polymorphism MSHR_HUMAN I155T Polymorphism MSHR_HUMAN R67Q Polymorphism MSHR_HUMAN R151C Polymorphism MSHR_HUMAN D84E Polymorphism MSHR_HUMAN R160W Polymorphism MSHR_HUMAN D294H Polymorphism MSHR_HUMAN F196L Polymorphism MSHR_HUMAN R163Q Polymorphism MSHR_HUMAN V156L Polymorphism SPG7_HUMAN T503A Polymorphism SPG7_HUMAN R688Q Polymorphism SMUG1_HUMAN G15V Polymorphism SMUG1_HUMAN R105W Polymorphism KIT_HUMAN D816V Disease KIT_HUMAN G812V Disease KIT_HUMAN A829P Disease KIT_HUMAN G664R Disease KIT_HUMAN D816Y Disease KIT_HUMAN F584L Disease KIT_HUMAN N822K Disease KIT_HUMAN E583K Disease KIT_HUMAN R791G Disease KTN1_HUMAN V282M Polymorphism NPH4_HUMAN Q1287E Disease NPH4_HUMAN Q766R Disease NPH4_HUMAN A544G Polymorphism NPH4_HUMAN V765I Polymorphism NPH4_HUMAN P776R Disease NPH4_HUMAN R469W Disease NPH4_HUMAN R961H Disease NPH4_HUMAN G754R Disease NPH4_HUMAN R848W Polymorphism NPH4_HUMAN R1192W Disease NPH4_HUMAN R342C Disease NPH4_HUMAN T946A Disease NPH4_HUMAN T627M Disease NPH4_HUMAN H782Q Disease NPH4_HUMAN F91L Disease NPH4_HUMAN A1098T Disease NPH4_HUMAN A654G Disease NPH4_HUMAN F991S Disease NPH4_HUMAN D3Y Disease NPH4_HUMAN E618K Polymorphism NPH4_HUMAN T1225M Disease NPH4_HUMAN T29M Polymorphism NPH4_HUMAN R740H Polymorphism NPH4_HUMAN R1284C Disease NPH4_HUMAN R735W Disease GON1_HUMAN W16S Polymorphism IFIT2_HUMAN D352E Polymorphism DDB1_HUMAN L427F Polymorphism FGF11_HUMAN R163G Polymorphism CD86_HUMAN A310T Polymorphism CD86_HUMAN D323N Polymorphism CD86_HUMAN S170N Polymorphism KITM_HUMAN I53M Disease KITM_HUMAN R192K Disease KITM_HUMAN R183W Disease KITM_HUMAN I212N Disease KITM_HUMAN H121N Disease KITM_HUMAN T64M Disease KITM_HUMAN T108M Disease FIBB_HUMAN G430D Disease FIBB_HUMAN P265L Polymorphism FIBB_HUMAN N170H Polymorphism FIBB_HUMAN P100S Polymorphism FIBB_HUMAN R478K Polymorphism FIBB_HUMAN R196C Disease FIBB_HUMAN L383R Disease FIBB_HUMAN K2E Polymorphism ACSL4_HUMAN R570S Disease RIF1_HUMAN N2021Y Polymorphism RIF1_HUMAN G836S Polymorphism RIF1_HUMAN R1686G Polymorphism RIF1_HUMAN V1862I Polymorphism RIF1_HUMAN L2418V Polymorphism RIF1_HUMAN V1362M Polymorphism RIF1_HUMAN M2165R Polymorphism MCP_HUMAN A353V Polymorphism MCP_HUMAN D266N Polymorphism MCP_HUMAN P324L Polymorphism MCP_HUMAN V355G Polymorphism EVC_HUMAN S307P Disease EVC_HUMAN D953G Polymorphism EVC_HUMAN G403S Polymorphism EVC_HUMAN Y258H Polymorphism EVC_HUMAN R576Q Polymorphism EVC_HUMAN R760Q Polymorphism EVC_HUMAN T449K Polymorphism EVC_HUMAN R443Q Disease EVC_HUMAN Q74P Polymorphism ZIC3_HUMAN T323M Disease IL6_HUMAN D162V Polymorphism IL6_HUMAN P32S Polymorphism DMRT1_HUMAN Y221S Polymorphism DMRT1_HUMAN P295L Polymorphism DMRT1_HUMAN S45T Polymorphism DMRT1_HUMAN R281S Polymorphism AGRP_HUMAN A67T Polymorphism LYST_HUMAN V1999D Disease LYST_HUMAN R1563H Disease LYST_HUMAN H123R Polymorphism ILRL1_HUMAN A78E Polymorphism MMP15_HUMAN G609R Polymorphism ASNS_HUMAN V209E Polymorphism VP33B_HUMAN L30P Disease VP33B_HUMAN S514G Polymorphism NIPA_HUMAN R363H Polymorphism NIPA_HUMAN T271A Polymorphism PAR2_HUMAN S21F Polymorphism PAR2_HUMAN T291A Polymorphism PAR2_HUMAN R270Q Polymorphism LIPE_HUMAN G96S Polymorphism LIPE_HUMAN R312H Polymorphism LIPE_HUMAN T111I Polymorphism DPOLM_HUMAN E107D Polymorphism DPOLM_HUMAN G220A Polymorphism DPOLM_HUMAN V246F Polymorphism DPOLM_HUMAN L484F Polymorphism GPC4_HUMAN A442V Polymorphism GPC4_HUMAN E391D Polymorphism DMD_HUMAN Q1469L Polymorphism DMD_HUMAN L54R Disease DMD_HUMAN R2155W Polymorphism DMD_HUMAN T279A Disease DMD_HUMAN Q133P Polymorphism DMD_HUMAN R1844S Polymorphism DMD_HUMAN H2921R Disease DMD_HUMAN V1197F Polymorphism DMD_HUMAN A3421V Disease DMD_HUMAN G882D Polymorphism DMD_HUMAN A1278P Polymorphism DMD_HUMAN D645G Disease DMD_HUMAN D3335H Disease DMD_HUMAN R2191W Polymorphism DMD_HUMAN K773E Disease DMD_HUMAN R1745H Polymorphism DMD_HUMAN Q365H Polymorphism DMD_HUMAN A168D Disease DMD_HUMAN A784G Polymorphism DMD_HUMAN K18N Disease DMD_HUMAN C3340Y Disease DMD_HUMAN Y231N Disease DMD_HUMAN A171P Disease DMD_HUMAN N2299T Polymorphism DMD_HUMAN N1672K Disease DMD_HUMAN K1377N Polymorphism DMD_HUMAN L623I Polymorphism DMD_HUMAN T1245I Polymorphism DMD_HUMAN Q2937R Polymorphism DMD_HUMAN E2910V Polymorphism DMD_HUMAN F3228L Disease DMD_HUMAN K2366Q Polymorphism DMD_HUMAN N2912D Polymorphism MCM7_HUMAN G473S Polymorphism MCM7_HUMAN N144S Polymorphism DPM1_HUMAN S248P Disease DPM1_HUMAN R92G Disease ASB10_HUMAN R415C Polymorphism CO2_HUMAN F533L Polymorphism CO2_HUMAN E318D Polymorphism CO2_HUMAN R734C Polymorphism GFAP_HUMAN E223Q Disease GFAP_HUMAN R239H Disease GFAP_HUMAN R79H Disease GFAP_HUMAN R88S Disease GFAP_HUMAN R79C Disease GFAP_HUMAN R239C Disease GFAP_HUMAN R416W Disease GFAP_HUMAN R258P Disease GFAP_HUMAN L76F Disease GFAP_HUMAN A244V Disease GFAP_HUMAN R88C Disease GFAP_HUMAN P47L Disease GFAP_HUMAN D78E Disease GFAP_HUMAN D295N Polymorphism GFAP_HUMAN E362D Disease GFAP_HUMAN N77Y Disease CIR1A_HUMAN R565W Disease EXOS9_HUMAN S409T Polymorphism ENPP1_HUMAN Y268H Polymorphism ENPP1_HUMAN T779P Polymorphism ENPP1_HUMAN L91P Disease ENPP1_HUMAN K173Q Polymorphism ENPP1_HUMAN S287F Disease ENPP1_HUMAN L579F Disease ENPP1_HUMAN R774C Disease LIRB1_HUMAN S155I Polymorphism LIRB1_HUMAN I142T Polymorphism LIRB1_HUMAN L68P Polymorphism LIRB1_HUMAN L620F Polymorphism LAP2_HUMAN S274L Polymorphism LAP2_HUMAN K1207E Polymorphism LAP2_HUMAN S1112L Polymorphism CAC1S_HUMAN R1239G Disease CAC1S_HUMAN L458H Polymorphism CAC1S_HUMAN R1539C Polymorphism CAC1S_HUMAN R528H Disease CAC1S_HUMAN R1239H Disease PPGB_HUMAN Y249N Disease PPGB_HUMAN Q49R Disease PPGB_HUMAN W65R Disease PPGB_HUMAN Y395C Disease PPGB_HUMAN F440V Disease PPGB_HUMAN S90L Disease ACINU_HUMAN S467P Polymorphism ACINU_HUMAN S478F Polymorphism ACINU_HUMAN I311M Polymorphism TOP1M_HUMAN R525W Polymorphism MRGX1_HUMAN I36V Polymorphism SCNNB_HUMAN R624C Polymorphism SCNNB_HUMAN G589S Polymorphism SCNNB_HUMAN A336P Polymorphism SCNNB_HUMAN P616S Disease SCNNB_HUMAN E632G Polymorphism SCNNB_HUMAN G37S Disease SCNNB_HUMAN P616L Disease SCNNB_HUMAN G442V Polymorphism SCNNB_HUMAN R597H Polymorphism SCNNB_HUMAN V434M Polymorphism SCNNB_HUMAN T594M Polymorphism SORL_HUMAN A528T Polymorphism PAR3_HUMAN L15S Polymorphism PAR3_HUMAN M177V Polymorphism PAR3_HUMAN N250D Polymorphism KS6A3_HUMAN G431D Disease KS6A3_HUMAN D154Y Disease KS6A3_HUMAN G75V Disease KS6A3_HUMAN S227A Disease KS6A3_HUMAN H127Q Disease KS6A3_HUMAN A225V Disease KS6A3_HUMAN V82F Disease KS6A3_HUMAN I38S Polymorphism KS6A3_HUMAN R114W Disease KS6A3_HUMAN R729Q Disease ZNF81_HUMAN S179N Disease ZNF81_HUMAN I499V Polymorphism ZNF81_HUMAN A3V Polymorphism ZNF81_HUMAN S185L Polymorphism ZNF81_HUMAN N157S Polymorphism ENPP5_HUMAN L6I Polymorphism TETN_HUMAN S106G Polymorphism TETN_HUMAN A55S Polymorphism TETN_HUMAN V58M Polymorphism CO4A6_HUMAN N1110K Polymorphism CO4A6_HUMAN S455A Polymorphism FSCN3_HUMAN A24S Polymorphism RAB20_HUMAN N134S Polymorphism NAC1_HUMAN E692V Polymorphism THBG_HUMAN A133P Disease THBG_HUMAN L303F Polymorphism THBG_HUMAN P383L Disease THBG_HUMAN L247P Disease THBG_HUMAN S43T Disease THBG_HUMAN I116N Disease THBG_HUMAN H351Y Disease ABCD1_HUMAN G277W Disease ABCD1_HUMAN A626T Disease ABCD1_HUMAN R163H Disease ABCD1_HUMAN G277R Disease ABCD1_HUMAN R113P Disease ABCD1_HUMAN A626D Disease ABCD1_HUMAN G298D Disease ABCD1_HUMAN R163P Disease ABCD1_HUMAN N214D Disease ABCD1_HUMAN S515F Disease ABCD1_HUMAN R617H Disease ABCD1_HUMAN S161P Disease ABCD1_HUMAN R617C Disease ABCD1_HUMAN R617G Disease ABCD1_HUMAN A646P Disease ABCD1_HUMAN G116R Disease ABCD1_HUMAN G343S Disease ABCD1_HUMAN S606P Disease ABCD1_HUMAN G507V Disease ABCD1_HUMAN P534L Disease ABCD1_HUMAN K217E Disease ABCD1_HUMAN A294T Disease ABCD1_HUMAN L322P Disease ABCD1_HUMAN R389G Disease ABCD1_HUMAN R104C Disease ABCD1_HUMAN R389H Disease ABCD1_HUMAN R104H Disease ABCD1_HUMAN E271K Disease ABCD1_HUMAN K336M Disease ABCD1_HUMAN R401W Disease ABCD1_HUMAN M566K Disease ABCD1_HUMAN R401Q Disease ABCD1_HUMAN P484R Disease ABCD1_HUMAN E302K Disease ABCD1_HUMAN Y174C Disease ABCD1_HUMAN Y174D Disease ABCD1_HUMAN D200N Disease ABCD1_HUMAN Y174S Disease ABCD1_HUMAN Q544R Disease ABCD1_HUMAN P560R Disease ABCD1_HUMAN P560S Disease ABCD1_HUMAN C631Y Disease ABCD1_HUMAN E291D Disease ABCD1_HUMAN T632I Disease ABCD1_HUMAN P560L Disease ABCD1_HUMAN D200V Disease ABCD1_HUMAN R274W Disease ABCD1_HUMAN G522W Disease ABCD1_HUMAN E291K Disease ABCD1_HUMAN G343D Disease ABCD1_HUMAN R113C Disease ABCD1_HUMAN R285P Disease ABCD1_HUMAN S342P Disease ABCD1_HUMAN L220P Disease ABCD1_HUMAN L503P Disease ABCD1_HUMAN R182P Disease ABCD1_HUMAN P263L Disease ABCD1_HUMAN A99D Disease ABCD1_HUMAN T668I Disease ABCD1_HUMAN S213C Disease ABCD1_HUMAN C88W Disease ABCD1_HUMAN L107P Disease ABCD1_HUMAN T198K Disease ABCD1_HUMAN G266R Disease ABCD1_HUMAN S633R Disease ABCD1_HUMAN S103R Disease ABCD1_HUMAN S633I Disease ABCD1_HUMAN K276E Disease ABCD1_HUMAN W679R Disease ABCD1_HUMAN N148S Disease ABCD1_HUMAN G512S Disease ABCD1_HUMAN D194H Disease ABCD1_HUMAN T693M Disease ABCD1_HUMAN V635M Disease ABCD1_HUMAN R660P Disease ABCD1_HUMAN R660W Disease ABCD1_HUMAN T254P Disease ABCD1_HUMAN T254M Disease ABCD1_HUMAN E609K Disease ABCD1_HUMAN S149N Disease ABCD1_HUMAN T105P Disease ABCD1_HUMAN P218T Disease ABCD1_HUMAN D638Y Disease ABCD1_HUMAN P143S Disease ABCD1_HUMAN S552P Disease ABCD1_HUMAN F540S Disease ABCD1_HUMAN T105I Disease ABCD1_HUMAN R518W Disease ABCD1_HUMAN R518Q Disease ABCD1_HUMAN L211P Disease ABCD1_HUMAN L229P Disease ABCD1_HUMAN N13T Polymorphism ABCD1_HUMAN E90K Disease ABCD1_HUMAN R280C Disease ABCD1_HUMAN S108L Disease ABCD1_HUMAN D629H Disease ABCD1_HUMAN P543L Disease ABCD1_HUMAN S108W Disease ABCD1_HUMAN A141T Disease ABCD1_HUMAN G608D Disease ABCD1_HUMAN R152S Disease ABCD1_HUMAN L654P Disease ABCD1_HUMAN R152P Disease ABCD1_HUMAN A616V Disease ABCD1_HUMAN R189W Disease ABCD1_HUMAN S606L Disease ABCD1_HUMAN R152C Disease ABCD1_HUMAN L190P Disease ABCD1_HUMAN Q556R Disease ABCD1_HUMAN V224E Disease ABCD1_HUMAN W339R Disease ABCD1_HUMAN D221G Disease ABCD1_HUMAN R418W Disease ABCD1_HUMAN Y181C Disease ABCD1_HUMAN R152L Disease ABCD1_HUMAN S514R Disease ABCD1_HUMAN Y296C Disease ABCD1_HUMAN S636I Disease ABCD1_HUMAN Q178E Disease ABCD1_HUMAN R554H Disease ABCD1_HUMAN H667D Disease ABCD1_HUMAN S98L Disease ABCD1_HUMAN E630G Disease ABCD1_HUMAN R591W Disease ABCD1_HUMAN R591P Disease ABCD1_HUMAN R591Q Disease ABCD1_HUMAN E609G Disease ABCD1_HUMAN G529S Disease SENP6_HUMAN Y1106C Polymorphism TRI18_HUMAN L626P Disease TRI18_HUMAN C266R Disease TRI18_HUMAN I536T Disease A4_HUMAN T714I Disease A4_HUMAN E693K Disease A4_HUMAN A692G Disease A4_HUMAN L723P Disease A4_HUMAN E665D Disease A4_HUMAN I716V Disease A4_HUMAN E693Q Disease A4_HUMAN A713T Disease A4_HUMAN E693G Disease A4_HUMAN V717F Disease A4_HUMAN V715M Disease A4_HUMAN E501K Polymorphism A4_HUMAN D694N Disease A4_HUMAN V717I Disease A4_HUMAN A713V Polymorphism A4_HUMAN V717L Disease A4_HUMAN V717G Disease PON1_HUMAN I101V Polymorphism PON1_HUMAN Q191R Polymorphism PON1_HUMAN M54L Polymorphism CTAG2_HUMAN W138R Polymorphism CTAG2_HUMAN E89Q Polymorphism CTAG2_HUMAN R6Q Polymorphism EURL_HUMAN Q117R Polymorphism EURL_HUMAN D136E Polymorphism PTN13_HUMAN I1522M Polymorphism PTN13_HUMAN L1419P Polymorphism PCCA_HUMAN G606R Disease PCCA_HUMAN R374Q Disease PCCA_HUMAN A50P Disease PCCA_HUMAN A113T Disease PCCA_HUMAN M204K Disease PCCA_HUMAN G172E Disease PCCA_HUMAN I139T Disease PCCA_HUMAN R52W Disease PCCA_HUMAN M348K Disease PCCA_HUMAN Q272R Disease PCCA_HUMAN G354V Disease PCCA_HUMAN P398L Disease PCCA_HUMAN G643R Disease PCCA_HUMAN V526F Polymorphism PCCA_HUMAN I450V Polymorphism PCCA_HUMAN D343G Disease PCCA_HUMAN W534L Disease PCCA_HUMAN C373R Disease KR10A_HUMAN T72P Polymorphism UBR2_HUMAN A1095T Polymorphism U5S1_HUMAN G773V Polymorphism TEP1_HUMAN C1468Y Polymorphism TEP1_HUMAN S1447T Polymorphism TEP1_HUMAN N307K Polymorphism TEP1_HUMAN I2486M Polymorphism TEP1_HUMAN H2562R Polymorphism TEP1_HUMAN C1055R Polymorphism TEP1_HUMAN P116S Polymorphism TEP1_HUMAN V2214I Polymorphism TEP1_HUMAN P1195S Polymorphism PLXB3_HUMAN V598I Polymorphism PLXB3_HUMAN M1535T Polymorphism NQO2_HUMAN K15R Polymorphism NQO2_HUMAN F46L Polymorphism NQO2_HUMAN G57D Polymorphism NQO2_HUMAN E28G Polymorphism NQO2_HUMAN V183A Polymorphism MA2C1_HUMAN V960I Polymorphism CDO1_HUMAN T45I Polymorphism G3P2_HUMAN A21G Polymorphism MYC_HUMAN V170I Polymorphism MYC_HUMAN A322V Polymorphism MYC_HUMAN G160C Polymorphism MYC_HUMAN N11S Polymorphism ZN323_HUMAN T50S Polymorphism ZN565_HUMAN I188T Polymorphism KU86_HUMAN L462F Polymorphism SBDS_HUMAN E44G Disease SBDS_HUMAN I87S Disease SBDS_HUMAN I212T Disease SBDS_HUMAN R169C Disease SBDS_HUMAN K67E Disease SBDS_HUMAN R126T Disease SBDS_HUMAN N8K Disease RIPK1_HUMAN E234K Polymorphism OCTN1_HUMAN G462E Polymorphism OCTN1_HUMAN L503F Disease OCTN1_HUMAN T306I Polymorphism ADA1B_HUMAN V51G Polymorphism M6PBP_HUMAN I56V Polymorphism DOCK4_HUMAN K1059T Disease DOCK4_HUMAN S1755P Disease DOCK4_HUMAN V1884M Disease DOCK4_HUMAN S1926L Polymorphism DOCK4_HUMAN E606Q Polymorphism DOCK4_HUMAN P1917L Polymorphism DOCK4_HUMAN P1718L Disease DOCK4_HUMAN V1914I Polymorphism DOCK4_HUMAN T87I Disease DOCK4_HUMAN P1733A Polymorphism CTL3_HUMAN I438V Polymorphism VEZA_HUMAN D762G Polymorphism IBP2_HUMAN A140D Polymorphism CLUS_HUMAN S396L Polymorphism CLUS_HUMAN D328N Polymorphism CLUS_HUMAN N317H Polymorphism RUNX1_HUMAN S431R Polymorphism RUNX1_HUMAN R174Q Disease RUNX1_HUMAN S433R Polymorphism RUNX1_HUMAN R139Q Disease TRFM_HUMAN R294W Polymorphism ACHA4_HUMAN S280L Disease ACHA4_HUMAN S517L Polymorphism ACHA4_HUMAN S280F Disease ACHA4_HUMAN E387G Polymorphism FBX7_HUMAN M115I Polymorphism CHRC1_HUMAN H126R Polymorphism CHRC1_HUMAN C55Y Polymorphism CSF1_HUMAN L408P Polymorphism CSF1_HUMAN A531V Polymorphism CSF1_HUMAN S496F Polymorphism LIPA3_HUMAN A563S Polymorphism FANCA_HUMAN L244F Disease FANCA_HUMAN G809D Polymorphism FANCA_HUMAN H492R Disease FANCA_HUMAN L817P Disease FANCA_HUMAN H1110P Disease FANCA_HUMAN A181V Disease FANCA_HUMAN V1287I Polymorphism FANCA_HUMAN S501G Polymorphism FANCA_HUMAN S1088F Disease FANCA_HUMAN D1359Y Disease FANCA_HUMAN H1417D Disease FANCA_HUMAN L1082P Disease FANCA_HUMAN R435C Disease FANCA_HUMAN F1262L Disease FANCA_HUMAN P1324L Disease FANCA_HUMAN N8K Disease FANCA_HUMAN D598N Disease FANCA_HUMAN T266A Polymorphism FANCA_HUMAN M1360I Disease FANCA_HUMAN S858R Disease FANCA_HUMAN W1302R Disease FANCA_HUMAN D252G Disease FANCA_HUMAN R1055W Disease FANCA_HUMAN R1117G Disease FANCA_HUMAN V6D Polymorphism FANCA_HUMAN P739L Polymorphism FANCA_HUMAN L845P Disease FANCA_HUMAN T1328A Polymorphism FANCA_HUMAN Q1128E Disease FANCA_HUMAN T1131A Disease FANCA_HUMAN R1055L Disease EXTL1_HUMAN N379H Polymorphism OXSR1_HUMAN T304I Polymorphism AKA11_HUMAN S721C Polymorphism ST1A1_HUMAN R213H Polymorphism ST1A1_HUMAN M223V Polymorphism ST1A1_HUMAN R37Q Polymorphism ST1A1_HUMAN N235T Polymorphism ST1A2_HUMAN T235N Polymorphism ST1A2_HUMAN T7I Polymorphism WISP3_HUMAN C78R Disease WISP3_HUMAN Q56H Polymorphism MC4R_HUMAN I251L Polymorphism MC4R_HUMAN V103I Polymorphism NBR1_HUMAN R923H Polymorphism ADH1B_HUMAN R369C Polymorphism ADH1B_HUMAN T59S Polymorphism ADH1B_HUMAN N56K Polymorphism ADH1B_HUMAN R47H Polymorphism ADH1G_HUMAN P165S Polymorphism ADH1G_HUMAN I349V Polymorphism ADH1G_HUMAN R271Q Polymorphism ADH1G_HUMAN P351T Polymorphism ADH1G_HUMAN R47H Polymorphism NR2E3_HUMAN R97H Disease NR2E3_HUMAN R104W Disease NR2E3_HUMAN R385P Disease NR2E3_HUMAN R76Q Disease NR2E3_HUMAN L336P Disease NR2E3_HUMAN M407K Disease NR2E3_HUMAN R76W Disease NR2E3_HUMAN R309G Disease NR2E3_HUMAN V232I Polymorphism NR2E3_HUMAN M163T Polymorphism NR2E3_HUMAN E140G Polymorphism NR2E3_HUMAN W234S Disease NR2E3_HUMAN E121K Disease NR2E3_HUMAN L263P Disease NR2E3_HUMAN L353V Disease NR2E3_HUMAN G88V Disease NR2E3_HUMAN A256E Disease NR2E3_HUMAN V302I Polymorphism NR2E3_HUMAN R311Q Disease G3ST1_HUMAN V29M Polymorphism PLSL_HUMAN D24E Polymorphism CCR3_HUMAN G21D Polymorphism CCR3_HUMAN C218S Polymorphism NDP_HUMAN A63D Disease NDP_HUMAN C65Y Disease NDP_HUMAN C65W Disease NDP_HUMAN I123N Disease NDP_HUMAN L16P Disease NDP_HUMAN R121Q Disease NDP_HUMAN C69S Disease NDP_HUMAN Y44C Disease NDP_HUMAN C96W Disease NDP_HUMAN R74C Disease NDP_HUMAN Y120C Disease NDP_HUMAN C96Y Disease NDP_HUMAN C110G Disease NDP_HUMAN H42R Disease NDP_HUMAN L61P Disease NDP_HUMAN R90P Disease NDP_HUMAN A105T Disease NDP_HUMAN V60E Disease NDP_HUMAN K58N Disease NDP_HUMAN K104Q Disease NDP_HUMAN S75P Disease NDP_HUMAN R121G Disease NDP_HUMAN C39R Disease NDP_HUMAN L61F Disease NDP_HUMAN S101F Disease NDP_HUMAN S75C Disease NDP_HUMAN R121W Disease NDP_HUMAN R41K Disease NDP_HUMAN L13R Disease NDP_HUMAN L124F Disease BAF2_HUMAN T78S Polymorphism PGDH_HUMAN Y217C Polymorphism SEM4B_HUMAN S792A Polymorphism BTNL2_HUMAN S360G Polymorphism BTNL2_HUMAN K196E Polymorphism NI2M_HUMAN P145S Polymorphism V2R_HUMAN V215M Polymorphism V2R_HUMAN V88M Disease V2R_HUMAN W323S Disease V2R_HUMAN R113W Disease V2R_HUMAN A42V Polymorphism V2R_HUMAN L62P Disease V2R_HUMAN L309R Disease V2R_HUMAN L309P Disease V2R_HUMAN F105V Disease V2R_HUMAN Y205C Disease V2R_HUMAN A294P Disease V2R_HUMAN S318T Polymorphism V2R_HUMAN L289P Disease V2R_HUMAN R203C Disease V2R_HUMAN R104C Disease V2R_HUMAN T204N Disease V2R_HUMAN A147V Polymorphism V2R_HUMAN R143P Disease V2R_HUMAN P217T Disease V2R_HUMAN G107E Disease V2R_HUMAN T7S Polymorphism V2R_HUMAN V277A Disease V2R_HUMAN L44P Disease V2R_HUMAN P173S Disease V2R_HUMAN S167T Disease V2R_HUMAN W99R Disease V2R_HUMAN G122R Disease V2R_HUMAN D85N Disease V2R_HUMAN G352D Polymorphism V2R_HUMAN S167L Disease V2R_HUMAN S315R Disease V2R_HUMAN F214S Disease V2R_HUMAN A84D Disease V2R_HUMAN Q92R Disease V2R_HUMAN D191G Disease V2R_HUMAN L53R Disease V2R_HUMAN R252W Polymorphism V2R_HUMAN G185C Disease V2R_HUMAN R139S Polymorphism V2R_HUMAN N321K Disease V2R_HUMAN L282P Disease V2R_HUMAN N321D Disease V2R_HUMAN N321Y Disease V2R_HUMAN S126F Disease V2R_HUMAN L43P Disease V2R_HUMAN C319R Disease V2R_HUMAN L94Q Disease V2R_HUMAN R137H Disease V2R_HUMAN I130F Disease V2R_HUMAN W164S Disease V2R_HUMAN L59P Disease V2R_HUMAN Q174L Disease V2R_HUMAN A163P Disease V2R_HUMAN L81F Disease V2R_HUMAN F287L Disease V2R_HUMAN L219P Disease V2R_HUMAN L219R Disease V2R_HUMAN N317K Disease V2R_HUMAN R64W Polymorphism V2R_HUMAN A61V Polymorphism V2R_HUMAN R202C Disease V2R_HUMAN T207N Disease V2R_HUMAN R181C Disease V2R_HUMAN L135P Disease V2R_HUMAN M123K Disease V2R_HUMAN P286L Disease V2R_HUMAN P286S Disease V2R_HUMAN P286R Disease V2R_HUMAN C112Y Disease V2R_HUMAN G201D Disease V2R_HUMAN C112R Disease V2R_HUMAN P95L Disease V2R_HUMAN V206D Disease V2R_HUMAN P322H Disease V2R_HUMAN I209F Disease V2R_HUMAN R106C Disease V2R_HUMAN Y128S Disease V2R_HUMAN A132D Disease V2R_HUMAN S127F Disease V2R_HUMAN G12E Polymorphism V2R_HUMAN L292P Disease V2R_HUMAN W323R Disease V2R_HUMAN P322S Disease V2R_HUMAN L83Q Disease V2R_HUMAN L83P Disease V2R_HUMAN H80R Disease V2R_HUMAN M272K Disease V2R_HUMAN N55H Disease V2R_HUMAN N55D Disease V2R_HUMAN I46K Disease OR2F2_HUMAN A98V Polymorphism KBL_HUMAN R39C Polymorphism TENA_HUMAN A1781T Polymorphism TENA_HUMAN Q2008E Polymorphism MTM1_HUMAN R241L Disease MTM1_HUMAN H374D Disease MTM1_HUMAN I264S Disease MTM1_HUMAN P205L Disease MTM1_HUMAN R241C Disease MTM1_HUMAN K510N Disease MTM1_HUMAN L228P Disease MTM1_HUMAN N189S Disease MTM1_HUMAN W411C Disease MTM1_HUMAN N481Y Disease MTM1_HUMAN L70F Disease MTM1_HUMAN I225T Disease MTM1_HUMAN L391P Disease MTM1_HUMAN N180K Disease MTM1_HUMAN A389D Disease MTM1_HUMAN G378E Disease MTM1_HUMAN M317R Disease MTM1_HUMAN E404K Disease MTM1_HUMAN S376N Disease MTM1_HUMAN Y68D Disease MTM1_HUMAN G378R Disease MTM1_HUMAN L406P Disease MTM1_HUMAN L202S Disease MTM1_HUMAN A279G Disease MTM1_HUMAN E157K Disease MTM1_HUMAN W499R Disease MTM1_HUMAN P199S Disease MTM1_HUMAN W346S Disease MTM1_HUMAN T197I Disease MTM1_HUMAN T186I Disease MTM1_HUMAN R184L Disease MTM1_HUMAN V49F Disease MTM1_HUMAN S229P Disease MTM1_HUMAN H469P Disease MTM1_HUMAN W346C Disease MTM1_HUMAN R184G Disease MTM1_HUMAN R421Q Disease MTM1_HUMAN Y397C Disease MTM1_HUMAN W230C Disease MTM1_HUMAN G402A Disease MTM1_HUMAN H232R Disease MTM1_HUMAN R69S Disease MTM1_HUMAN D431N Disease MTM1_HUMAN R69C Disease MTM1_HUMAN D433N Disease MTM1_HUMAN P226T Disease MTM1_HUMAN G402V Disease MTM1_HUMAN V364G Disease MTM1_HUMAN C444Y Disease MTM1_HUMAN G402R Disease MTM1_HUMAN P179S Disease MTM1_HUMAN L470P Disease MTM1_HUMAN V227M Disease MTM1_HUMAN Y198N Disease MTM1_HUMAN L87P Disease MTM1_HUMAN R69P Disease CATC_HUMAN Q286R Disease CATC_HUMAN T153I Polymorphism CATC_HUMAN R272H Disease CATC_HUMAN W39S Disease CATC_HUMAN W429C Disease CATC_HUMAN I453V Polymorphism CATC_HUMAN Y412C Disease CATC_HUMAN D236Y Disease CATC_HUMAN R272P Disease CATC_HUMAN E319G Disease CATC_HUMAN R339C Disease CATC_HUMAN G300D Disease CATC_HUMAN C291Y Disease CATC_HUMAN Y340C Disease CATC_HUMAN Q312R Disease CATC_HUMAN Q252L Disease CATC_HUMAN H127P Disease CATC_HUMAN E401K Polymorphism CATC_HUMAN V129E Disease CATC_HUMAN E447G Disease CATC_HUMAN Y347C Disease CATC_HUMAN G301S Disease CATC_HUMAN G301V Disease CATC_HUMAN G300S Disease CATC_HUMAN G139R Disease CATC_HUMAN V249F Disease CATC_HUMAN Y304N Disease CCDC8_HUMAN K507N Polymorphism MOT1_HUMAN E490D Polymorphism MOT1_HUMAN G472R Disease MOT1_HUMAN K204E Disease ZN297_HUMAN T310A Polymorphism WFDC8_HUMAN M96T Polymorphism FOXE1_HUMAN S57N Disease FOXE1_HUMAN A65V Disease PAPS2_HUMAN V291M Polymorphism GSHB_HUMAN R330C Disease GSHB_HUMAN Y270H Disease GSHB_HUMAN L254R Disease GSHB_HUMAN D469E Disease GSHB_HUMAN D219G Disease GSHB_HUMAN R283C Disease GSHB_HUMAN D219A Disease GSHB_HUMAN L188P Disease GSHB_HUMAN A26D Disease GSHB_HUMAN G464V Disease GSHB_HUMAN R267W Disease GSHB_HUMAN L286Q Disease GSHB_HUMAN Y270C Disease SYP2L_HUMAN P707L Polymorphism CDN1B_HUMAN R15W Polymorphism CDN1B_HUMAN V109G Polymorphism KR104_HUMAN R62C Polymorphism KR104_HUMAN I159V Polymorphism WNT8B_HUMAN C11S Polymorphism HYES_HUMAN R287Q Polymorphism RFC1_HUMAN I598V Polymorphism RFC1_HUMAN R613L Polymorphism RFC1_HUMAN Q955K Polymorphism RFC1_HUMAN S1146L Polymorphism RFC1_HUMAN E692D Polymorphism CD2_HUMAN Q266H Polymorphism FRK_HUMAN G122R Polymorphism ATD3A_HUMAN G15D Polymorphism NU2M_HUMAN A265V Polymorphism NU2M_HUMAN S148P Polymorphism NU2M_HUMAN N150S Polymorphism NU2M_HUMAN L237M Polymorphism NU2M_HUMAN I278T Polymorphism NU2M_HUMAN I57T Polymorphism NU2M_HUMAN I69V Polymorphism NU2M_HUMAN T119A Polymorphism NU2M_HUMAN Q63R Polymorphism NU2M_HUMAN A265T Polymorphism NU2M_HUMAN N88S Polymorphism NU2M_HUMAN P42L Polymorphism NU2M_HUMAN N150D Disease NU2M_HUMAN A331T Polymorphism NU2M_HUMAN I159T Polymorphism NU2M_HUMAN A331S Disease NU2M_HUMAN F325L Polymorphism NU2M_HUMAN T185A Polymorphism NU2M_HUMAN G259S Disease NU2M_HUMAN V43I Polymorphism NU2M_HUMAN T333A Polymorphism CTND1_HUMAN R464C Polymorphism CTND1_HUMAN R915K Polymorphism CTND1_HUMAN Y217C Polymorphism BASI_HUMAN G269V Polymorphism RA51C_HUMAN I144T Polymorphism RA51C_HUMAN R249C Polymorphism RA51C_HUMAN T287A Polymorphism SO1A2_HUMAN E172D Polymorphism SO1A2_HUMAN N128Y Polymorphism SO1A2_HUMAN N135I Polymorphism SO1A2_HUMAN T668S Polymorphism SO1A2_HUMAN I355V Polymorphism CYLN2_HUMAN R977P Polymorphism ARVC_HUMAN V175A Polymorphism RECQ4_HUMAN P441S Polymorphism RECQ4_HUMAN E267D Polymorphism RECQ4_HUMAN R355Q Polymorphism RECQ4_HUMAN R1005Q Polymorphism ZNF80_HUMAN D253A Polymorphism MGP_HUMAN A102T Polymorphism MGP_HUMAN K53E Polymorphism KHK_HUMAN R159G Polymorphism KHK_HUMAN A43T Disease KHK_HUMAN V49I Polymorphism KHK_HUMAN G40R Disease KLOT_HUMAN P15Q Polymorphism KLOT_HUMAN F352V Polymorphism KLOT_HUMAN C370S Polymorphism KLOT_HUMAN F45V Polymorphism AT8B1_HUMAN D554N Disease AT8B1_HUMAN G892R Disease AT8B1_HUMAN L288S Disease AT8B1_HUMAN G308V Disease AT8B1_HUMAN I661T Disease GPM6A_HUMAN V242L Polymorphism APOH_HUMAN C325G Polymorphism APOH_HUMAN W335S Polymorphism APOH_HUMAN V266L Polymorphism APOH_HUMAN S107N Polymorphism APOH_HUMAN R154H Polymorphism ENK7_HUMAN C97Y Polymorphism ENK7_HUMAN V272I Polymorphism ENK7_HUMAN V348I Polymorphism ENK7_HUMAN V534I Polymorphism GPC3_HUMAN W296R Disease FMO3_HUMAN E157K Polymorphism FMO3_HUMAN V256M Polymorphism FMO3_HUMAN R204C Polymorphism FMO3_HUMAN E361Q Polymorphism FMO3_HUMAN A51T Disease FMO3_HUMAN V276A Polymorphism FMO3_HUMAN L359P Polymorphism FMO3_HUMAN R386L Disease FMO3_HUMAN G502R Polymorphism FMO3_HUMAN E307G Polymorphism FMO3_HUMAN R491W Disease FMO3_HUMAN D197E Polymorphism FMO3_HUMAN P152L Disease FMO3_HUMAN D131H Polymorphism FMO3_HUMAN M65I Disease LMD1_HUMAN T267M Polymorphism GDF8_HUMAN K153R Polymorphism GDF8_HUMAN A55T Polymorphism TCOF_HUMAN D1355G Polymorphism TCOF_HUMAN A810V Polymorphism TCOF_HUMAN A1313V Polymorphism TCOF_HUMAN W53R Disease TCOF_HUMAN P439L Polymorphism AA2BR_HUMAN A35V Polymorphism PAK7_HUMAN S511N Polymorphism HCFC1_HUMAN P1164S Polymorphism ATP6_HUMAN L37P Polymorphism ATP6_HUMAN A155T Polymorphism ATP6_HUMAN I121V Polymorphism ATP6_HUMAN I14V Polymorphism ATP6_HUMAN T33S Polymorphism ATP6_HUMAN T112A Polymorphism ATP6_HUMAN M60T Polymorphism ATP6_HUMAN L217P Disease ATP6_HUMAN T59A Polymorphism ATP6_HUMAN T133A Polymorphism ATP6_HUMAN L156P Disease ATP6_HUMAN L156R Disease ATP6_HUMAN F117L Polymorphism ATP6_HUMAN T53I Polymorphism ATP6_HUMAN S182L Polymorphism ATP6_HUMAN F193L Polymorphism ATP6_HUMAN A7T Polymorphism ATP6_HUMAN A80T Polymorphism ATP6_HUMAN S219G Polymorphism ATP6_HUMAN T178A Polymorphism ATP6_HUMAN I192T Disease ATP6_HUMAN A11T Polymorphism ATP6_HUMAN I192V Polymorphism ATP6_HUMAN G16S Polymorphism ATP6_HUMAN H61Y Polymorphism ATP6_HUMAN A177T Polymorphism ATP6_HUMAN I204T Polymorphism ATP6_HUMAN H90Y Polymorphism ATP6_HUMAN V213I Polymorphism OR1E1_HUMAN A143T Polymorphism FLNB_HUMAN V1018M Polymorphism FLNB_HUMAN N1157D Polymorphism PAX8_HUMAN L62R Disease PAX8_HUMAN Q40P Disease PAX8_HUMAN C57Y Disease PAX8_HUMAN R31H Disease PAX8_HUMAN F329L Polymorphism C1R_HUMAN E184K Polymorphism C1R_HUMAN H163Y Polymorphism C1R_HUMAN G261R Polymorphism C1R_HUMAN S152L Polymorphism C1R_HUMAN Y131H Polymorphism O10H2_HUMAN S171F Polymorphism CFTR_HUMAN R352Q Disease CFTR_HUMAN S13F Disease CFTR_HUMAN G91R Disease CFTR_HUMAN S549R Disease CFTR_HUMAN Y563N Disease CFTR_HUMAN F693L Polymorphism CFTR_HUMAN S549N Disease CFTR_HUMAN A1006E Disease CFTR_HUMAN S549I Disease CFTR_HUMAN P574H Disease CFTR_HUMAN D1152H Disease CFTR_HUMAN L571S Disease CFTR_HUMAN H949Y Disease CFTR_HUMAN D110H Disease CFTR_HUMAN M952I Disease CFTR_HUMAN L206W Disease CFTR_HUMAN S182G Polymorphism CFTR_HUMAN R1283M Disease CFTR_HUMAN R1066H Disease CFTR_HUMAN Q1071P Disease CFTR_HUMAN L1077P Disease CFTR_HUMAN R1070P Disease CFTR_HUMAN R1070Q Disease CFTR_HUMAN D1270N Disease CFTR_HUMAN L633P Disease CFTR_HUMAN A455E Disease CFTR_HUMAN I507V Polymorphism CFTR_HUMAN A1364V Disease CFTR_HUMAN H620Q Disease CFTR_HUMAN H620P Disease CFTR_HUMAN A559T Disease CFTR_HUMAN S1235R Disease CFTR_HUMAN C225R Disease CFTR_HUMAN G480C Disease CFTR_HUMAN R297Q Disease CFTR_HUMAN E822K Disease CFTR_HUMAN R31L Disease CFTR_HUMAN D513G Disease CFTR_HUMAN S1251N Disease CFTR_HUMAN S42F Disease CFTR_HUMAN I601F Disease CFTR_HUMAN Y917C Disease CFTR_HUMAN L138P Polymorphism CFTR_HUMAN G149R Disease CFTR_HUMAN F1052V Disease CFTR_HUMAN G85E Disease CFTR_HUMAN S1255P Disease CFTR_HUMAN Q1291R Disease CFTR_HUMAN P205S Disease CFTR_HUMAN Q1291H Disease CFTR_HUMAN C866Y Disease CFTR_HUMAN G1249E Disease CFTR_HUMAN E193K Disease CFTR_HUMAN Q98R Disease CFTR_HUMAN I1005R Disease CFTR_HUMAN P67L Disease CFTR_HUMAN L558S Disease CFTR_HUMAN I148T Disease CFTR_HUMAN G178R Disease CFTR_HUMAN F1286S Disease CFTR_HUMAN R766M Disease CFTR_HUMAN D614G Disease CFTR_HUMAN R258G Disease CFTR_HUMAN G458V Disease CFTR_HUMAN A120T Disease CFTR_HUMAN D44V Polymorphism CFTR_HUMAN T1220I Polymorphism CFTR_HUMAN S909I Polymorphism CFTR_HUMAN R170H Polymorphism CFTR_HUMAN L619S Disease CFTR_HUMAN D44G Disease CFTR_HUMAN V520F Disease CFTR_HUMAN L346P Disease CFTR_HUMAN H199Y Disease CFTR_HUMAN A1067T Disease CFTR_HUMAN R1066C Disease CFTR_HUMAN H199Q Disease CFTR_HUMAN G628R Disease CFTR_HUMAN R334W Disease CFTR_HUMAN H1085R Disease CFTR_HUMAN Y109C Disease CFTR_HUMAN D648V Disease CFTR_HUMAN L997F Disease CFTR_HUMAN L610S Disease CFTR_HUMAN I807M Disease CFTR_HUMAN T351S Polymorphism CFTR_HUMAN R1162L Polymorphism CFTR_HUMAN E92K Disease CFTR_HUMAN P1013L Disease CFTR_HUMAN R117P Disease CFTR_HUMAN R347P Disease CFTR_HUMAN Q353H Polymorphism CFTR_HUMAN G544V Disease CFTR_HUMAN G1061R Disease CFTR_HUMAN R792G Disease CFTR_HUMAN R117C Disease CFTR_HUMAN R117L Disease CFTR_HUMAN A141D Disease CFTR_HUMAN R347L Disease CFTR_HUMAN R117H Disease CFTR_HUMAN R347H Disease CFTR_HUMAN P1072L Disease CFTR_HUMAN M244K Disease CFTR_HUMAN L967S Polymorphism CFTR_HUMAN L467F Polymorphism CFTR_HUMAN Y301C Disease CFTR_HUMAN G576A Polymorphism CFTR_HUMAN H139R Disease CFTR_HUMAN R74W Disease CFTR_HUMAN W1098R Disease CFTR_HUMAN S307N Disease CFTR_HUMAN A1067V Polymorphism CFTR_HUMAN M1101R Disease CFTR_HUMAN I336K Disease CFTR_HUMAN P111L Disease CFTR_HUMAN M1101K Disease CFTR_HUMAN V754M Disease CFTR_HUMAN R1070W Disease CFTR_HUMAN N1303H Disease CFTR_HUMAN N1303K Disease CFTR_HUMAN I618T Disease CFTR_HUMAN S50Y Disease CFTR_HUMAN T338I Disease CFTR_HUMAN R1066L Disease CFTR_HUMAN S654G Polymorphism CFTR_HUMAN R75Q Polymorphism CFTR_HUMAN W1282R Disease CFTR_HUMAN A613T Disease CFTR_HUMAN V322M Polymorphism CFTR_HUMAN R31C Polymorphism CFTR_HUMAN I506M Polymorphism CFTR_HUMAN R553Q Disease CFTR_HUMAN D651N Disease CFTR_HUMAN G1349D Disease CFTR_HUMAN I105S Disease CFTR_HUMAN Y903H Polymorphism CFTR_HUMAN V1397E Disease CFTR_HUMAN Y569C Disease CFTR_HUMAN F87L Disease CFTR_HUMAN Y913C Disease CFTR_HUMAN Y569D Disease CFTR_HUMAN V456F Disease CFTR_HUMAN I506V Polymorphism CFTR_HUMAN Y569H Disease CFTR_HUMAN E504Q Disease CFTR_HUMAN G314R Disease CFTR_HUMAN A800G Disease CFTR_HUMAN V562L Disease CFTR_HUMAN S912L Polymorphism CFTR_HUMAN V562I Polymorphism CFTR_HUMAN T665S Disease CFTR_HUMAN W57G Disease CFTR_HUMAN G314E Disease CFTR_HUMAN S492F Disease CFTR_HUMAN I1234V Disease CFTR_HUMAN D579G Disease CFTR_HUMAN R668C Polymorphism CFTR_HUMAN M1137V Disease CFTR_HUMAN F508C Polymorphism CFTR_HUMAN G1244E Disease CFTR_HUMAN F311L Disease CFTR_HUMAN M470V Polymorphism CFTR_HUMAN N287Y Disease CFTR_HUMAN R560K Disease CFTR_HUMAN G551D Disease CFTR_HUMAN Q359K Disease CFTR_HUMAN R560S Disease CFTR_HUMAN M1028I Disease CFTR_HUMAN R560T Disease CFTR_HUMAN L1065R Disease CFTR_HUMAN D572N Disease CFTR_HUMAN L1065P Disease CFTR_HUMAN G551S Disease SPG11_HUMAN R85K Polymorphism SPG11_HUMAN D89G Polymorphism SPG11_HUMAN Q77R Polymorphism GRAB_HUMAN Q55R Polymorphism GRAB_HUMAN Y247H Polymorphism EPO_HUMAN P149Q Disease ISK5_HUMAN K420E Polymorphism IL1R2_HUMAN E181K Polymorphism IL1R2_HUMAN E292K Polymorphism FUT1_HUMAN Y241H Polymorphism FUT1_HUMAN Y154H Polymorphism FUT1_HUMAN A12V Polymorphism FUT1_HUMAN E348K Polymorphism FUT1_HUMAN D148Y Polymorphism PTEN_HUMAN G129E Disease PTEN_HUMAN I67R Disease PTEN_HUMAN V119L Disease PTEN_HUMAN M35R Disease PTEN_HUMAN L70P Disease PTEN_HUMAN L42R Disease PTEN_HUMAN R130Q Disease PTEN_HUMAN A121G Disease PTEN_HUMAN L112P Disease PTEN_HUMAN F347L Disease PTEN_HUMAN Y68H Disease PTEN_HUMAN G165V Disease PTEN_HUMAN A34D Disease PTEN_HUMAN H123R Disease PTEN_HUMAN G165E Disease PTEN_HUMAN R15S Disease PTEN_HUMAN C124S Disease PTEN_HUMAN C124R Disease PTEN_HUMAN V158L Disease PTEN_HUMAN D19N Disease PTEN_HUMAN G36E Disease PTEN_HUMAN R47G Disease PTEN_HUMAN R130L Disease PTEN_HUMAN L57W Disease PTEN_HUMAN S170R Disease PTEN_HUMAN I135V Disease PTEN_HUMAN P246L Disease PTEN_HUMAN C105Y Disease PTEN_HUMAN R234Q Disease PTEN_HUMAN V343E Disease PTEN_HUMAN K289E Disease PTEN_HUMAN V217I Disease PTEN_HUMAN C136Y Disease PTEN_HUMAN M134L Disease PTEN_HUMAN G129R Disease CABYR_HUMAN S490A Polymorphism CLCN6_HUMAN G198E Polymorphism E2F5_HUMAN G18A Polymorphism AES_HUMAN A168E Polymorphism LATS2_HUMAN A324V Polymorphism PXR_HUMAN R122Q Polymorphism PXR_HUMAN P27S Polymorphism PXR_HUMAN R148Q Polymorphism PXR_HUMAN R381W Polymorphism PXR_HUMAN R98C Polymorphism PXR_HUMAN G36R Polymorphism PXR_HUMAN I403V Polymorphism GALT4_HUMAN I270T Polymorphism GALT4_HUMAN V506I Polymorphism TNFC_HUMAN A111P Polymorphism TNFC_HUMAN G70E Polymorphism TNFC_HUMAN S84R Polymorphism TNFC_HUMAN L87F Polymorphism RIMS1_HUMAN R820H Disease SIGL8_HUMAN S170P Polymorphism OR1A1_HUMAN P285S Polymorphism LASS5_HUMAN C75R Polymorphism PHAR3_HUMAN P154L Polymorphism AL1B1_HUMAN L107R Polymorphism AL1B1_HUMAN A86V Polymorphism BBS4_HUMAN L327P Disease BBS4_HUMAN R295P Disease BBS4_HUMAN N165H Disease BBS4_HUMAN S457I Disease BBS4_HUMAN A364E Disease BBS4_HUMAN T354I Polymorphism BBS4_HUMAN M472V Polymorphism FGL1_HUMAN Y111H Polymorphism FGL1_HUMAN P105L Polymorphism FGL1_HUMAN I72V Polymorphism FGL1_HUMAN I15T Polymorphism FGL1_HUMAN Y140F Polymorphism FGL1_HUMAN T121S Polymorphism V1AR_HUMAN G6S Polymorphism SETB1_HUMAN A824P Polymorphism SETB1_HUMAN N236S Polymorphism SETB1_HUMAN A824G Polymorphism PTE2A_HUMAN R475H Polymorphism PGTA_HUMAN T420A Polymorphism NSDHL_HUMAN G205S Disease NSDHL_HUMAN A105V Disease AQP1_HUMAN G164D Polymorphism MUSK_HUMAN M413I Polymorphism APOE_HUMAN E31K Disease APOE_HUMAN L46P Polymorphism APOE_HUMAN R269G Polymorphism APOE_HUMAN R163C Disease APOE_HUMAN R292H Polymorphism APOE_HUMAN T60A Polymorphism APOE_HUMAN E21K Polymorphism APOE_HUMAN R152Q Polymorphism APOE_HUMAN K164Q Disease APOE_HUMAN R154S Disease APOE_HUMAN A170P Polymorphism APOE_HUMAN K164E Disease APOE_HUMAN G145D Polymorphism APOE_HUMAN R154C Disease APOE_HUMAN R176C Disease APOE_HUMAN L270E Polymorphism APOE_HUMAN R160C Disease APOE_HUMAN V254E Polymorphism APOE_HUMAN P102R Polymorphism APOE_HUMAN A117T Polymorphism APOE_HUMAN R242Q Polymorphism APOE_HUMAN A124V Polymorphism APOE_HUMAN R246C Polymorphism APOE_HUMAN C130R Disease APOE_HUMAN Q99K Polymorphism APOE_HUMAN S314R Polymorphism APOE_HUMAN Q64H Polymorphism SAS6_HUMAN A259V Polymorphism SEM3B_HUMAN D397H Disease SEM3B_HUMAN R348C Disease SEM3B_HUMAN T415I Disease GCS1_HUMAN D239N Polymorphism GCS1_HUMAN F652L Disease GCS1_HUMAN E236Q Polymorphism GCS1_HUMAN R486T Disease KCNH2_HUMAN S818L Disease KCNH2_HUMAN N588D Disease KCNH2_HUMAN K897T Polymorphism KCNH2_HUMAN P451L Disease KCNH2_HUMAN R534C Disease KCNH2_HUMAN C66G Disease KCNH2_HUMAN N588K Disease KCNH2_HUMAN H70R Disease KCNH2_HUMAN K638E Disease KCNH2_HUMAN P347S Disease KCNH2_HUMAN Y569H Disease KCNH2_HUMAN I593T Disease KCNH2_HUMAN R922W Disease KCNH2_HUMAN W585C Disease KCNH2_HUMAN A558P Disease KCNH2_HUMAN R823W Disease KCNH2_HUMAN R582C Disease KCNH2_HUMAN T474I Disease KCNH2_HUMAN R56Q Disease KCNH2_HUMAN A614V Disease KCNH2_HUMAN G604S Disease KCNH2_HUMAN T436M Disease KCNH2_HUMAN L86R Disease KCNH2_HUMAN L615V Disease KCNH2_HUMAN A561V Disease KCNH2_HUMAN L564P Disease KCNH2_HUMAN A561T Disease KCNH2_HUMAN A78P Disease KCNH2_HUMAN N629D Disease KCNH2_HUMAN F29L Disease KCNH2_HUMAN N633S Disease KCNH2_HUMAN L552S Disease KCNH2_HUMAN F640L Disease KCNH2_HUMAN R531Q Disease KCNH2_HUMAN F805S Disease KCNH2_HUMAN R752W Disease KCNH2_HUMAN F627L Disease KCNH2_HUMAN G53R Disease KCNH2_HUMAN N33T Disease KCNH2_HUMAN P917L Disease KCNH2_HUMAN G572C Disease KCNH2_HUMAN T65P Disease KCNH2_HUMAN V612L Disease KCNH2_HUMAN E637K Disease KCNH2_HUMAN F805C Disease KCNH2_HUMAN R312C Disease KCNH2_HUMAN N861I Disease KCNH2_HUMAN P72Q Disease KCNH2_HUMAN D609N Disease KCNH2_HUMAN G626S Disease KCNH2_HUMAN N470D Disease KCNH2_HUMAN P632S Disease KCNH2_HUMAN R176W Disease KCNH2_HUMAN I593R Disease KCNH2_HUMAN G628S Disease KCNH2_HUMAN G47V Disease KCNH2_HUMAN N629K Disease KCNH2_HUMAN T613M Disease KCNH2_HUMAN V630A Disease KCNH2_HUMAN Y611H Disease KCNH2_HUMAN N629S Disease KCNH2_HUMAN G601S Disease KCNH2_HUMAN G572R Disease KCNH2_HUMAN V822M Disease KCNH2_HUMAN M645L Disease KCNH2_HUMAN V630L Disease KCNH2_HUMAN G584S Disease TTC7A_HUMAN V538L Polymorphism XPC_HUMAN R491H Polymorphism XPC_HUMAN L15V Polymorphism XPC_HUMAN K938Q Polymorphism XPC_HUMAN R670H Polymorphism XPC_HUMAN K85R Polymorphism XPC_HUMAN T688M Polymorphism XPC_HUMAN L47F Polymorphism XPC_HUMAN Q631E Polymorphism XPC_HUMAN M512I Polymorphism XPC_HUMAN P333H Disease XPC_HUMAN R313Q Polymorphism XPC_HUMAN K927Q Polymorphism XPC_HUMAN V498A Polymorphism TNR11_HUMAN A192V Polymorphism DESM_HUMAN I450M Disease DESM_HUMAN L344P Disease DESM_HUMAN Q388P Disease DESM_HUMAN A336P Disease DESM_HUMAN N392I Disease DESM_HUMAN A359P Disease DESM_HUMAN L384P Disease RENI_HUMAN G217R Polymorphism RENI_HUMAN R33W Polymorphism GCC2_HUMAN R1197G Polymorphism ANK1_HUMAN R20T Polymorphism ANK1_HUMAN V462I Disease ANK1_HUMAN V749A Polymorphism ANK1_HUMAN S1391T Polymorphism ANK1_HUMAN D844E Polymorphism ANK1_HUMAN E1285D Polymorphism CO5_HUMAN M1053L Polymorphism CO5_HUMAN S1310N Polymorphism CO5_HUMAN F518S Polymorphism CO5_HUMAN E1437D Polymorphism CO5_HUMAN I802V Polymorphism CO5_HUMAN I389T Polymorphism SIGL1_HUMAN P81T Polymorphism SIGL1_HUMAN Y494S Polymorphism SIGL1_HUMAN T478M Polymorphism PEBP_HUMAN S8N Polymorphism ARLY_HUMAN Q286R Disease ARLY_HUMAN R111W Disease ARLY_HUMAN R95C Disease ARLY_HUMAN R193Q Disease ARLY_HUMAN R379C Disease ARLY_HUMAN R385C Disease ARLY_HUMAN V178M Disease LCAT_HUMAN N252K Disease LCAT_HUMAN M276K Disease LCAT_HUMAN T147I Disease LCAT_HUMAN G54S Disease LCAT_HUMAN T345M Disease LCAT_HUMAN Y180N Disease LCAT_HUMAN R159W Disease LCAT_HUMAN W170R Disease LCAT_HUMAN G57R Disease LCAT_HUMAN L233P Disease LCAT_HUMAN A117T Disease LCAT_HUMAN R182C Polymorphism LCAT_HUMAN R164H Disease LCAT_HUMAN P34L Disease LCAT_HUMAN M317I Disease LCAT_HUMAN S232T Polymorphism LCAT_HUMAN T371M Disease HXK4_HUMAN V367M Disease HXK4_HUMAN W257R Disease HXK4_HUMAN S131P Disease HXK4_HUMAN E70K Disease HXK4_HUMAN C382Y Disease HXK4_HUMAN V455M Disease HXK4_HUMAN A119D Disease HXK4_HUMAN E300Q Disease HXK4_HUMAN S336L Disease HXK4_HUMAN E256K Disease HXK4_HUMAN A53S Disease HXK4_HUMAN D4N Polymorphism HXK4_HUMAN L309P Disease HXK4_HUMAN G261E Disease HXK4_HUMAN Y108H Disease HXK4_HUMAN T209M Disease HXK4_HUMAN A259T Disease HXK4_HUMAN M107T Polymorphism HXK4_HUMAN A384T Disease HXK4_HUMAN R36W Disease HXK4_HUMAN E221K Disease HXK4_HUMAN F150S Disease HXK4_HUMAN G261R Disease HXK4_HUMAN M210K Disease HXK4_HUMAN G227C Disease HXK4_HUMAN I110T Disease HXK4_HUMAN A188T Disease HXK4_HUMAN H137R Disease HXK4_HUMAN C213R Disease HXK4_HUMAN V226M Disease HXK4_HUMAN G385V Disease HXK4_HUMAN L164P Disease HXK4_HUMAN T228M Disease HXK4_HUMAN K414E Disease HXK4_HUMAN G299R Disease HXK4_HUMAN M210T Disease HXK4_HUMAN G80A Disease HXK4_HUMAN G175R Disease HXK4_HUMAN A11T Polymorphism HXK4_HUMAN G80S Disease HXK4_HUMAN T168P Disease HXK4_HUMAN R392C Disease HXK4_HUMAN E300K Disease HXK4_HUMAN V182M Disease HXK4_HUMAN V203A Disease HXK4_HUMAN E279Q Disease SC5A5_HUMAN T354P Disease SC5A5_HUMAN G395R Disease SC5A5_HUMAN G543E Disease SC5A5_HUMAN G93R Disease SC5A5_HUMAN A102P Polymorphism SC5A5_HUMAN Q267E Disease CDN1A_HUMAN D148G Polymorphism CDN1A_HUMAN S30R Polymorphism CU070_HUMAN V212L Polymorphism NKG2D_HUMAN A72T Polymorphism IGHE_HUMAN W359L Polymorphism CD52_HUMAN I41M Polymorphism PHF6_HUMAN H229R Disease PHF6_HUMAN C99F Disease PHF6_HUMAN C45Y Disease PHF6_HUMAN K234E Disease PHF6_HUMAN R257G Disease FTCD_HUMAN R135C Disease FTCD_HUMAN A438E Polymorphism FTCD_HUMAN R299P Disease CX7A2_HUMAN E40D Polymorphism ATS4_HUMAN R626Q Polymorphism LIRB4_HUMAN G223D Polymorphism LIRB4_HUMAN K362E Polymorphism PSG6_HUMAN L257S Polymorphism PSG6_HUMAN L155F Polymorphism PSG6_HUMAN L181M Polymorphism PSG6_HUMAN L180W Polymorphism PSG6_HUMAN K196E Polymorphism PSG6_HUMAN R191S Polymorphism PSG6_HUMAN R344H Polymorphism PSG6_HUMAN K253N Polymorphism PSG6_HUMAN A258T Polymorphism PSG6_HUMAN I167T Polymorphism PSG6_HUMAN N185S Polymorphism PSG6_HUMAN R165L Polymorphism PSG6_HUMAN I404S Polymorphism PSG3_HUMAN P30L Polymorphism PSG4_HUMAN V75L Polymorphism PGH1_HUMAN R53H Polymorphism PGH1_HUMAN L237M Polymorphism PGH1_HUMAN K359R Polymorphism PGH1_HUMAN R149L Polymorphism PGH1_HUMAN P17L Polymorphism PGH1_HUMAN I443V Polymorphism PGH1_HUMAN R8W Polymorphism CTNL1_HUMAN M716R Polymorphism CTNL1_HUMAN N91T Polymorphism CTNL1_HUMAN E203K Polymorphism CTNL1_HUMAN E527Q Polymorphism CTNL1_HUMAN I593N Polymorphism FCG2A_HUMAN R167H Polymorphism ITM2C_HUMAN G53S Polymorphism CAR14_HUMAN R883H Polymorphism CAC1A_HUMAN I1810L Disease CAC1A_HUMAN T666M Disease CAC1A_HUMAN E1015K Polymorphism CAC1A_HUMAN P2394S Polymorphism CAC1A_HUMAN P914S Polymorphism CAC1A_HUMAN E918D Polymorphism CAC1A_HUMAN R949C Polymorphism CAC1A_HUMAN A21V Polymorphism CAC1A_HUMAN G1105S Polymorphism CAC1A_HUMAN R192Q Disease CAC1A_HUMAN V627I Polymorphism CAC1A_HUMAN V714A Disease FMO4_HUMAN L543R Polymorphism FMO4_HUMAN G371S Polymorphism FMO4_HUMAN E338Q Polymorphism FMO4_HUMAN V322A Polymorphism FMO4_HUMAN I36T Polymorphism FMO4_HUMAN F535L Polymorphism PRD10_HUMAN T487A Polymorphism ENOG_HUMAN T394A Polymorphism ENOG_HUMAN P263A Polymorphism REV1_HUMAN V138M Polymorphism REV1_HUMAN N373S Polymorphism REV1_HUMAN F257S Polymorphism SSR3_HUMAN S411T Polymorphism SSR3_HUMAN S251F Polymorphism HPS4_HUMAN Q625H Polymorphism BSND_HUMAN G47R Disease BSND_HUMAN G10S Disease BSND_HUMAN R8L Disease BSND_HUMAN R8W Disease KRHB6_HUMAN E402Q Disease KRHB6_HUMAN E402K Disease KRHB6_HUMAN N114H Disease KRHB6_HUMAN E413K Disease KRHB6_HUMAN E413D Disease KRHB6_HUMAN N114D Disease KRHB3_HUMAN C149R Polymorphism KRHB3_HUMAN Y493H Polymorphism KRHB3_HUMAN E407K Disease KRHB3_HUMAN M279I Polymorphism KRHB1_HUMAN G52R Polymorphism KRHB1_HUMAN R248L Polymorphism KRHB1_HUMAN R316C Polymorphism KRHB1_HUMAN E402K Disease KRHB1_HUMAN E413K Disease IL13_HUMAN R130Q Polymorphism ITAE_HUMAN C1041S Polymorphism ITAE_HUMAN D360E Polymorphism ITAE_HUMAN Q892H Polymorphism IFM2_HUMAN T41M Polymorphism TDRD7_HUMAN V150A Polymorphism MCM2_HUMAN L135F Polymorphism MCM2_HUMAN D68E Polymorphism MCM2_HUMAN A727T Polymorphism MCM2_HUMAN V667M Polymorphism MCM2_HUMAN A396T Polymorphism S26A3_HUMAN H124L Disease S26A3_HUMAN G120S Disease S26A3_HUMAN P131R Disease S26A3_HUMAN D468V Disease S26A3_HUMAN S206P Disease S26A3_HUMAN C307W Polymorphism TNNT2_HUMAN F119V Disease TNNT2_HUMAN A113V Disease TNNT2_HUMAN R150W Disease TNNT2_HUMAN S248T Polymorphism TNNT2_HUMAN R287C Disease TNNT2_HUMAN R101W Disease TNNT2_HUMAN F79L Disease TNNT2_HUMAN S188F Disease TNNT2_HUMAN N280I Disease TNNT2_HUMAN R101Q Disease TNNT2_HUMAN R103L Disease TNNT2_HUMAN R138K Polymorphism TNNT2_HUMAN E172K Disease TNNT2_HUMAN R101L Disease TNNT2_HUMAN R287P Disease TNNT2_HUMAN R295C Disease TNNT2_HUMAN I88N Disease TNNT2_HUMAN K262R Polymorphism TNNT2_HUMAN E253D Disease TNNT2_HUMAN F119I Disease ISK4_HUMAN V7I Polymorphism DPOD1_HUMAN R849H Polymorphism DPOD1_HUMAN R19H Polymorphism DPOD1_HUMAN R1086Q Polymorphism DPOD1_HUMAN S173N Polymorphism DPOD1_HUMAN R119H Polymorphism DPOD1_HUMAN R30W Polymorphism DPOD1_HUMAN R177H Polymorphism LITAF_HUMAN Y23H Disease LITAF_HUMAN T49M Disease LITAF_HUMAN L122V Disease LITAF_HUMAN I92V Polymorphism LITAF_HUMAN W116G Disease LITAF_HUMAN T115N Disease LITAF_HUMAN G112S Disease RPF53_HUMAN V418M Polymorphism RPF53_HUMAN D254H Polymorphism RPF53_HUMAN R445K Polymorphism TRI38_HUMAN G421R Polymorphism CADH3_HUMAN R503H Disease K0020_HUMAN R289P Polymorphism K0020_HUMAN V297L Polymorphism TBX10_HUMAN K101T Polymorphism LRTM1_HUMAN S330N Polymorphism CLCN1_HUMAN Q552R Disease CLCN1_HUMAN R105C Disease CLCN1_HUMAN P480L Disease CLCN1_HUMAN A437T Polymorphism CLCN1_HUMAN F161V Disease CLCN1_HUMAN E291K Disease CLCN1_HUMAN I329T Disease CLCN1_HUMAN Y150C Disease CLCN1_HUMAN G230E Disease CLCN1_HUMAN F413C Disease CLCN1_HUMAN V286A Disease CLCN1_HUMAN V327I Disease CLCN1_HUMAN R317Q Disease CLCN1_HUMAN Y261C Disease CLCN1_HUMAN I556N Disease CLCN1_HUMAN G285E Disease CLCN1_HUMAN R496S Disease CLCN1_HUMAN W118G Polymorphism CLCN1_HUMAN A415V Disease CLCN1_HUMAN V563I Disease CLCN1_HUMAN V236L Disease CLCN1_HUMAN A313T Disease CLCN1_HUMAN F708L Disease CLCN1_HUMAN I290M Disease CLCN1_HUMAN D136G Disease CLCN1_HUMAN V165G Disease CLCN1_HUMAN R338Q Disease CLCN1_HUMAN M485V Disease CLCN1_HUMAN R300Q Polymorphism CLCN1_HUMAN F167L Disease CLCN1_HUMAN F307S Disease CLCN1_HUMAN G200R Disease CLCN1_HUMAN G482R Disease TNR9_HUMAN K115N Polymorphism TNR9_HUMAN A56T Polymorphism TNR9_HUMAN A176D Polymorphism CO4A1_HUMAN Q1334H Polymorphism ALDH2_HUMAN E496K Polymorphism ALDH2_HUMAN E504K Polymorphism ALDH2_HUMAN E337V Polymorphism CD36_HUMAN S126L Polymorphism CD36_HUMAN I412L Disease CD36_HUMAN P89S Disease CD36_HUMAN F253L Disease CD36_HUMAN V153F Polymorphism PITX2_HUMAN R137P Disease PITX2_HUMAN L100Q Disease PITX2_HUMAN R89W Disease PITX2_HUMAN R115H Disease PITX2_HUMAN T114P Disease FUT3_HUMAN G5S Polymorphism FUT3_HUMAN R160C Polymorphism FUT3_HUMAN T325M Polymorphism FUT3_HUMAN R327Q Polymorphism FUT3_HUMAN G170S Polymorphism FUT3_HUMAN I356K Polymorphism FUT5_HUMAN P187L Polymorphism BBS7_HUMAN H323R Disease BBS7_HUMAN T211I Disease HFE_HUMAN E277K Polymorphism HFE_HUMAN R330M Disease HFE_HUMAN C282Y Disease HFE_HUMAN Q127H Disease HFE_HUMAN H63D Disease HFE_HUMAN I105T Disease HFE_HUMAN S65C Disease HFE_HUMAN V53M Polymorphism HFE_HUMAN G93R Disease HFE_HUMAN V59M Polymorphism HFE_HUMAN T217I Polymorphism UBP29_HUMAN E586K Polymorphism FKRP_HUMAN V405L Disease FKRP_HUMAN A114G Disease FKRP_HUMAN P316S Disease FKRP_HUMAN P316R Disease FKRP_HUMAN Y309C Disease FKRP_HUMAN D401N Disease FKRP_HUMAN R54W Disease FKRP_HUMAN R339H Disease FKRP_HUMAN R339L Disease FKRP_HUMAN Y307N Disease FKRP_HUMAN L276I Disease FKRP_HUMAN P448L Disease FKRP_HUMAN P462S Disease FKRP_HUMAN P315T Disease FKRP_HUMAN A455D Disease FKRP_HUMAN S221R Disease FKRP_HUMAN R312C Disease FKRP_HUMAN R143S Disease FKRP_HUMAN P217T Disease FKRP_HUMAN C318Y Disease FKRP_HUMAN Y328S Disease FKRP_HUMAN D360N Disease FKRP_HUMAN Y465S Disease TNR1A_HUMAN C62Y Disease TNR1A_HUMAN C117R Disease TNR1A_HUMAN C81F Disease TNR1A_HUMAN C59R Disease TNR1A_HUMAN P75L Disease TNR1A_HUMAN S115G Disease TNR1A_HUMAN P305T Polymorphism TNR1A_HUMAN C99S Disease TNR1A_HUMAN C62G Disease TNR1A_HUMAN C59S Disease TNR1A_HUMAN C117Y Disease TNR1A_HUMAN T79M Disease TNR1A_HUMAN H51Q Disease TNR1A_HUMAN R121Q Disease TNR1A_HUMAN R121P Disease ELOA1_HUMAN T119M Polymorphism LIRA2_HUMAN H25L Polymorphism LIRA2_HUMAN H25N Polymorphism ARSA1_HUMAN N332S Polymorphism NKX25_HUMAN R189G Disease NKX25_HUMAN T178M Disease NKX25_HUMAN Y191C Disease NKX25_HUMAN R25C Disease NKX25_HUMAN N188K Disease AVR2B_HUMAN V494I Disease AVR2B_HUMAN R40H Disease SF01_HUMAN S357T Polymorphism FGFR4_HUMAN G388R Polymorphism RB27A_HUMAN L130P Disease RB27A_HUMAN W73G Disease RB27A_HUMAN A152P Disease ORNT2_HUMAN G159C Polymorphism ORNT2_HUMAN G181V Polymorphism ORNT2_HUMAN I226V Polymorphism ORNT1_HUMAN G27E Disease ORNT1_HUMAN E180K Disease ORNT1_HUMAN G190D Disease ORNT1_HUMAN G27R Disease ORNT1_HUMAN P126R Disease ORNT1_HUMAN I254L Polymorphism ORNT1_HUMAN R275Q Disease BCN1_HUMAN A103V Polymorphism BCN1_HUMAN I403T Polymorphism MMP13_HUMAN H2L Polymorphism MMP13_HUMAN D390G Polymorphism BLM_HUMAN T843I Disease BLM_HUMAN G891E Disease BLM_HUMAN I841T Disease BLM_HUMAN R591Q Polymorphism BLM_HUMAN T298M Polymorphism BLM_HUMAN K137R Polymorphism BLM_HUMAN C901Y Disease BLM_HUMAN V1321I Polymorphism BLM_HUMAN C1055S Disease BLM_HUMAN C1036F Disease BLM_HUMAN C878R Disease BLM_HUMAN Q672R Disease BLM_HUMAN S1209T Polymorphism BLM_HUMAN V1205I Polymorphism BLM_HUMAN E1213K Polymorphism BLM_HUMAN P868L Polymorphism DPYS_HUMAN G435R Disease DPYS_HUMAN Q334R Disease DPYS_HUMAN W360R Disease DPYS_HUMAN T68R Disease DPYS_HUMAN R490T Disease TMC2_HUMAN K123R Polymorphism EI2BB_HUMAN G329V Disease EI2BB_HUMAN E213G Disease EI2BB_HUMAN S171F Disease EI2BB_HUMAN K273R Disease EI2BB_HUMAN V316D Disease GPX1_HUMAN R5P Polymorphism GPX1_HUMAN P198L Polymorphism GPX1_HUMAN A192T Polymorphism SGCA_HUMAN I124T Disease SGCA_HUMAN Y62H Disease SGCA_HUMAN R98H Disease SGCA_HUMAN L31P Disease SGCA_HUMAN G91R Disease SGCA_HUMAN E137K Disease SGCA_HUMAN P205H Disease SGCA_HUMAN G68E Disease SGCA_HUMAN P30L Disease SGCA_HUMAN L173P Disease SGCA_HUMAN R34C Disease SGCA_HUMAN R74W Disease SGCA_HUMAN V175A Disease SGCA_HUMAN L89P Disease SGCA_HUMAN V247M Disease SGCA_HUMAN R77C Disease SGCA_HUMAN R98C Disease SGCA_HUMAN R34H Disease SGCA_HUMAN V242A Disease SGCA_HUMAN R284C Disease LYAM3_HUMAN C230F Polymorphism LYAM3_HUMAN N603D Polymorphism LYAM3_HUMAN S619A Polymorphism LYAM3_HUMAN P301L Polymorphism LYAM3_HUMAN S331N Polymorphism LYAM3_HUMAN S500F Polymorphism LYAM3_HUMAN G631V Polymorphism LYAM3_HUMAN G179R Polymorphism LYAM3_HUMAN T661N Polymorphism LYAM3_HUMAN L640V Polymorphism LYAM3_HUMAN M365V Polymorphism LYAM3_HUMAN V209M Polymorphism LYAM3_HUMAN I274T Polymorphism LYAM3_HUMAN N673S Polymorphism LYAM3_HUMAN E542K Polymorphism LYAM3_HUMAN S385L Polymorphism LYAM3_HUMAN T756P Polymorphism CEP70_HUMAN S135N Polymorphism ROM1_HUMAN A118G Polymorphism ROM1_HUMAN R229H Polymorphism ROM1_HUMAN R16H Polymorphism ROM1_HUMAN M271T Polymorphism ROM1_HUMAN P60T Polymorphism ROM1_HUMAN G75D Polymorphism ROM1_HUMAN R242Q Polymorphism ROM1_HUMAN T108M Polymorphism ROM1_HUMAN A265T Polymorphism CASP2_HUMAN P178A Polymorphism CASP2_HUMAN V172L Polymorphism CASP2_HUMAN R441G Polymorphism MUC15_HUMAN I202T Polymorphism MUC15_HUMAN I184T Polymorphism IMA3_HUMAN P291S Polymorphism CV008_HUMAN L129V Polymorphism CV008_HUMAN H239R Polymorphism LXN_HUMAN R53H Polymorphism LAMC1_HUMAN P888L Polymorphism LAMC1_HUMAN V458I Polymorphism LAMC1_HUMAN R1121Q Polymorphism K2C4_HUMAN A72V Polymorphism K2C4_HUMAN E449K Disease IMPK_HUMAN M349I Polymorphism FA11_HUMAN T322I Disease FA11_HUMAN I308F Polymorphism FA11_HUMAN Q244R Disease FA11_HUMAN A430V Disease FA11_HUMAN F460V Disease FA11_HUMAN W246C Disease FA11_HUMAN L320P Disease FA11_HUMAN D34H Disease FA11_HUMAN T404N Disease FA11_HUMAN F301L Disease FA11_HUMAN S266N Disease FA11_HUMAN C339F Polymorphism FA11_HUMAN P66L Polymorphism FA11_HUMAN W399R Polymorphism FA11_HUMAN T493I Disease FA11_HUMAN E341K Disease FA11_HUMAN S594R Disease FA11_HUMAN R326C Disease CO6A2_HUMAN G271S Disease CO6A2_HUMAN D621N Disease GSH0_HUMAN I209M Polymorphism CXA1_HUMAN I129T Disease CXA1_HUMAN V215L Disease CXA1_HUMAN P282L Polymorphism CXA1_HUMAN A167T Polymorphism CXA1_HUMAN L89V Disease CXA1_HUMAN S17P Disease CXA1_HUMAN K101N Disease CXA1_HUMAN G20R Disease CXA1_HUMAN R238W Polymorphism CXA1_HUMAN Y97C Disease CXA1_HUMAN K133E Disease CXA1_HUMAN D123E Polymorphism CXA1_HUMAN T203M Polymorphism CXA1_HUMAN R201H Disease CXA1_HUMAN Q48K Disease CXA1_HUMAN R201C Polymorphism CXA1_HUMAN G21E Disease CXA1_HUMAN A252V Polymorphism CXA1_HUMAN Y16S Disease CXA1_HUMAN T289N Polymorphism CXA1_HUMAN R147Q Polymorphism CXA1_HUMAN A39V Disease CXA1_HUMAN Y184H Polymorphism CXA1_HUMAN K22T Disease CXA1_HUMAN R75S Disease CXA1_HUMAN G137R Disease ATS2_HUMAN P1177S Polymorphism ATS2_HUMAN V245I Polymorphism FOXC2_HUMAN S125L Disease RNZ2_HUMAN G487R Disease RNZ2_HUMAN R211Q Disease RNZ2_HUMAN A541T Polymorphism RNZ2_HUMAN R781H Disease RNZ2_HUMAN G806R Disease RNZ2_HUMAN S627L Polymorphism RNZ2_HUMAN E622V Disease RNZ2_HUMAN S217L Polymorphism ABCAC_HUMAN E1539K Disease ABCAC_HUMAN N1380S Disease ABCAC_HUMAN G1651S Disease ABCAC_HUMAN G1381E Disease ABCAC_HUMAN R1514H Disease ABCAC_HUMAN S459T Polymorphism RPGR_HUMAN I75V Disease RPGR_HUMAN I289V Disease RPGR_HUMAN H98Q Disease RPGR_HUMAN G320R Disease RPGR_HUMAN D312N Disease RPGR_HUMAN G275S Disease RPGR_HUMAN A262G Disease RPGR_HUMAN G60V Disease RPGR_HUMAN S76I Polymorphism RPGR_HUMAN D312Y Disease RPGR_HUMAN C250R Disease RPGR_HUMAN G43E Disease RPGR_HUMAN C250Y Disease RPGR_HUMAN R425K Polymorphism RPGR_HUMAN G215V Disease RPGR_HUMAN G267E Disease RPGR_HUMAN R127G Disease RPGR_HUMAN G436D Disease RPGR_HUMAN N345D Polymorphism RPGR_HUMAN G566E Polymorphism RPGR_HUMAN C302Y Disease RPGR_HUMAN G43R Disease RPGR_HUMAN T99N Disease RPGR_HUMAN T533M Polymorphism RPGR_HUMAN P235S Disease RPGR_HUMAN C302R Disease RPGR_HUMAN G173R Disease RPGR_HUMAN I431V Polymorphism RPGR_HUMAN F130C Disease TSPY1_HUMAN I216F Polymorphism TSPY1_HUMAN P195R Polymorphism GLTL2_HUMAN H510Y Polymorphism BST2_HUMAN V143F Polymorphism S29A3_HUMAN I239V Polymorphism S29A3_HUMAN F158S Polymorphism S29A3_HUMAN V326I Polymorphism S29A3_HUMAN R18G Polymorphism S29A3_HUMAN V452E Polymorphism ERBB2_HUMAN I655V Polymorphism ERBB2_HUMAN I654V Polymorphism ERBB2_HUMAN W452C Polymorphism ERBB2_HUMAN P1170A Polymorphism PDC10_HUMAN D102A Polymorphism TNNI3_HUMAN L143Q Disease TNNI3_HUMAN K177E Disease TNNI3_HUMAN R144G Disease TNNI3_HUMAN A170T Disease TNNI3_HUMAN P81S Disease TNNI3_HUMAN R140Q Disease TNNI3_HUMAN A156V Disease TNNI3_HUMAN D189H Disease TNNI3_HUMAN R191H Disease TNNI3_HUMAN D195N Disease TNNI3_HUMAN R144W Disease TNNI3_HUMAN R185Q Disease TNNI3_HUMAN R161P Disease TNNI3_HUMAN K205Q Disease TF_HUMAN R163W Polymorphism TF_HUMAN I145V Polymorphism TF_HUMAN T36A Polymorphism GALT_HUMAN R333Q Disease GALT_HUMAN K229N Disease GALT_HUMAN L62M Polymorphism GALT_HUMAN R333W Disease GALT_HUMAN W249R Disease GALT_HUMAN R272G Disease GALT_HUMAN S135W Disease GALT_HUMAN I198M Disease GALT_HUMAN R328H Disease GALT_HUMAN R204P Disease GALT_HUMAN I198T Disease GALT_HUMAN R333G Disease GALT_HUMAN D28Y Disease GALT_HUMAN L226P Disease GALT_HUMAN T350A Disease GALT_HUMAN E203K Disease GALT_HUMAN R262P Disease GALT_HUMAN R123Q Disease GALT_HUMAN N314D Polymorphism GALT_HUMAN R123G Disease GALT_HUMAN L289R Disease GALT_HUMAN P324S Disease GALT_HUMAN V151A Disease GALT_HUMAN Q317H Disease GALT_HUMAN D113N Disease GALT_HUMAN G55C Disease GALT_HUMAN Q317R Disease GALT_HUMAN Q38P Disease GALT_HUMAN R51L Disease GALT_HUMAN S135L Disease GALT_HUMAN W167R Disease GALT_HUMAN I32N Disease GALT_HUMAN P183T Disease GALT_HUMAN M336L Disease GALT_HUMAN E291K Disease GALT_HUMAN H184Q Disease GALT_HUMAN S192N Disease GALT_HUMAN Q252H Disease GALT_HUMAN R258C Disease GALT_HUMAN T138M Disease GALT_HUMAN Y251C Disease GALT_HUMAN Y251S Disease GALT_HUMAN A330V Disease GALT_HUMAN R67C Disease GALT_HUMAN R259W Disease GALT_HUMAN K334R Disease GALT_HUMAN K285N Disease GALT_HUMAN N97S Disease GALT_HUMAN G179D Disease GALT_HUMAN C130Y Disease GALT_HUMAN M142K Disease GALT_HUMAN L282V Disease GALT_HUMAN V44L Disease GALT_HUMAN V44M Disease GALT_HUMAN A81T Disease GALT_HUMAN K127E Disease GALT_HUMAN F171S Disease GALT_HUMAN Q118H Disease GALT_HUMAN F194L Disease GALT_HUMAN M142V Disease GALT_HUMAN M129T Disease GALT_HUMAN Y209S Disease GALT_HUMAN L74P Disease GALT_HUMAN Q344K Disease GALT_HUMAN S45L Disease GALT_HUMAN L139P Disease GALT_HUMAN R148W Disease GALT_HUMAN R148Q Disease GALT_HUMAN A320T Disease GALT_HUMAN V125A Disease GALT_HUMAN L195P Disease GALT_HUMAN Q212H Disease GALT_HUMAN Y209C Disease GALT_HUMAN H114L Disease GALT_HUMAN R51Q Disease GALT_HUMAN D98N Disease GALT_HUMAN P325L Disease GALT_HUMAN A199T Disease GALT_HUMAN V150L Disease GALT_HUMAN W154G Disease GALT_HUMAN F294Y Disease GALT_HUMAN F117S Disease GALT_HUMAN S143L Disease GALT_HUMAN S329F Disease GALT_HUMAN Y323D Disease GALT_HUMAN Y323H Disease GALT_HUMAN L217P Disease GALT_HUMAN R201H Disease GALT_HUMAN Q188R Disease GALT_HUMAN E308K Disease GALT_HUMAN H132Y Disease GALT_HUMAN R231H Disease GALT_HUMAN H319Q Disease GALT_HUMAN R148G Disease IL2RA_HUMAN I272T Polymorphism CK5P2_HUMAN E289Q Polymorphism CK5P2_HUMAN L1540V Polymorphism CCL24_HUMAN I29L Polymorphism RGMC_HUMAN G99R Disease RGMC_HUMAN G250V Disease RGMC_HUMAN S205R Disease RGMC_HUMAN L101P Disease RGMC_HUMAN F170S Disease RGMC_HUMAN A168D Disease RGMC_HUMAN D172E Disease RGMC_HUMAN I222N Disease RGMC_HUMAN G320V Disease RGMC_HUMAN S85P Disease RGMC_HUMAN W191C Disease RGMC_HUMAN C321W Disease RGMC_HUMAN R288W Disease RGMC_HUMAN C80R Disease PAK6_HUMAN M76V Polymorphism PAK6_HUMAN P337L Polymorphism PAK6_HUMAN H215R Polymorphism GT2D1_HUMAN M652V Polymorphism CER1_HUMAN R19W Polymorphism CER1_HUMAN A65G Polymorphism CER1_HUMAN V179I Polymorphism RPC62_HUMAN H243R Polymorphism PI51B_HUMAN A415T Polymorphism TREM1_HUMAN T25S Polymorphism GLT12_HUMAN V119E Polymorphism TXND3_HUMAN C208R Polymorphism ERCC6_HUMAN T942M Polymorphism ERCC6_HUMAN K255T Polymorphism ERCC6_HUMAN G1382R Polymorphism ERCC6_HUMAN G1410R Polymorphism ERCC6_HUMAN Q1413R Polymorphism ERCC6_HUMAN Y1002C Polymorphism ERCC6_HUMAN G399D Polymorphism ERCC6_HUMAN P1095R Polymorphism ERCC6_HUMAN T1441I Polymorphism ERCC6_HUMAN G1322V Polymorphism ERCC6_HUMAN R1230P Polymorphism ERCC6_HUMAN R670W Disease ERCC6_HUMAN W851R Disease ERCC6_HUMAN V957G Disease ERCC6_HUMAN P1042L Disease ERCC6_HUMAN G1372R Polymorphism ERCC6_HUMAN G446D Polymorphism ERCC6_HUMAN V1308L Polymorphism ERCC6_HUMAN R1213G Polymorphism ERCC6_HUMAN M1097V Polymorphism ERCC6_HUMAN D425A Polymorphism CG69_HUMAN L247F Polymorphism STXB3_HUMAN G546C Polymorphism STXB3_HUMAN G433E Polymorphism CETP_HUMAN G331S Polymorphism CETP_HUMAN V486M Polymorphism CETP_HUMAN D459G Disease CETP_HUMAN A15G Polymorphism CETP_HUMAN R468Q Polymorphism CETP_HUMAN A390P Polymorphism CETP_HUMAN V385M Polymorphism CETP_HUMAN V422I Polymorphism DHPR_HUMAN G17V Disease DHPR_HUMAN G149R Disease DHPR_HUMAN F212C Disease DHPR_HUMAN G17R Disease DHPR_HUMAN T51S Polymorphism DHPR_HUMAN H158Y Disease DHPR_HUMAN L14P Disease DHPR_HUMAN Q66R Disease DHPR_HUMAN G23D Disease DHPR_HUMAN L74P Disease DHPR_HUMAN G170S Disease DHPR_HUMAN W108G Disease DHPR_HUMAN G151S Disease DHPR_HUMAN P145L Disease DHPR_HUMAN G18D Disease DHPR_HUMAN W36R Disease DHPR_HUMAN Y150C Disease FBX16_HUMAN R75Q Polymorphism PON3_HUMAN E146K Polymorphism PON3_HUMAN A179D Polymorphism NOP56_HUMAN V576A Polymorphism OCRL_HUMAN R500Q Disease OCRL_HUMAN G421E Disease OCRL_HUMAN S522R Disease OCRL_HUMAN R500G Disease OCRL_HUMAN V508D Disease OCRL_HUMAN V372G Disease OCRL_HUMAN R337P Disease OCRL_HUMAN A797P Disease OCRL_HUMAN D451G Disease OCRL_HUMAN N424D Disease OCRL_HUMAN G357E Disease OCRL_HUMAN C498Y Disease OCRL_HUMAN F463S Disease OCRL_HUMAN R318C Disease OCRL_HUMAN I768N Disease OCRL_HUMAN P526L Disease OCRL_HUMAN H524Q Disease OCRL_HUMAN H524R Disease OCRL_HUMAN H375Y Disease OCRL_HUMAN I533S Disease OCRL_HUMAN Y513C Disease OCRL_HUMAN Y479C Disease PRP8_HUMAN H2309R Disease PRP8_HUMAN H2309P Disease PRP8_HUMAN P2301T Disease PRP8_HUMAN Y2334N Disease PRP8_HUMAN R227H Polymorphism PRP8_HUMAN F2304L Disease PRP8_HUMAN P874L Polymorphism PRP8_HUMAN F2314L Disease PRP8_HUMAN R2310K Disease PRP8_HUMAN K68E Polymorphism PRP8_HUMAN N1293H Polymorphism PRP8_HUMAN R2310G Disease COPD_HUMAN K309N Polymorphism COPD_HUMAN F186L Polymorphism CAR15_HUMAN G924D Disease CAR15_HUMAN M863V Disease CAR15_HUMAN H496L Disease CAR15_HUMAN V793M Disease CAR15_HUMAN L348V Disease CAR15_HUMAN A918D Disease CAR15_HUMAN L248R Disease CAR15_HUMAN A758V Disease CAR15_HUMAN T189M Polymorphism CAR15_HUMAN T294S Disease CAR15_HUMAN R311W Disease CAR15_HUMAN A612T Disease CAR15_HUMAN A612V Disease CAR15_HUMAN A725G Disease CAR15_HUMAN L469F Disease CAR15_HUMAN A432V Disease CAR15_HUMAN R684W Disease CAR15_HUMAN N414S Disease CAR15_HUMAN E383K Disease CAR15_HUMAN E843K Disease CAR15_HUMAN N853S Disease CAR15_HUMAN R334W Disease CAR15_HUMAN A140T Disease CAR15_HUMAN R334Q Disease CAR15_HUMAN R373C Disease CAR15_HUMAN A885T Disease CAR15_HUMAN H352R Disease CAR15_HUMAN R235C Disease CAR15_HUMAN A301V Disease CAR15_HUMAN E778K Disease CAR15_HUMAN D291N Disease CAR15_HUMAN W157R Disease CAR15_HUMAN V955I Polymorphism CAR15_HUMAN R713C Disease CAR15_HUMAN N289S Polymorphism CAR15_HUMAN S431L Disease CAR15_HUMAN P268S Polymorphism CAR15_HUMAN R702W Disease CAR15_HUMAN E441K Disease CAR15_HUMAN D382E Disease CAR15_HUMAN R703C Disease CAR15_HUMAN A755V Disease CAR15_HUMAN G908R Disease PTN11_HUMAN D61Y Disease PTN11_HUMAN E76V Disease PTN11_HUMAN Q79R Disease PTN11_HUMAN N308S Disease PTN11_HUMAN D61V Disease PTN11_HUMAN E76K Disease PTN11_HUMAN D61N Disease PTN11_HUMAN E76G Disease PTN11_HUMAN E76D Disease PTN11_HUMAN N308D Disease PTN11_HUMAN T468M Disease PTN11_HUMAN E76A Disease PTN11_HUMAN M504V Disease PTN11_HUMAN S502T Disease PTN11_HUMAN D106A Disease PTN11_HUMAN I309V Disease PTN11_HUMAN D61G Disease PTN11_HUMAN E69K Disease PTN11_HUMAN R501K Disease PTN11_HUMAN Y279C Disease PTN11_HUMAN A72G Disease PTN11_HUMAN Y63C Disease PTN11_HUMAN G503A Disease PTN11_HUMAN G60A Disease PTN11_HUMAN F71K Disease PTN11_HUMAN A72V Disease PTN11_HUMAN A72T Disease PTN11_HUMAN Y62D Disease PTN11_HUMAN A72S Disease PTN11_HUMAN G503R Disease PTN11_HUMAN F285S Disease PTN11_HUMAN I282V Disease PTN11_HUMAN T42A Disease PTN11_HUMAN E139D Disease PTN11_HUMAN T73I Disease PTN11_HUMAN F285L Disease ACADS_HUMAN R46W Disease ACADS_HUMAN R383C Disease ACADS_HUMAN G92C Disease ACADS_HUMAN G90S Disease ACADS_HUMAN R380W Disease ACADS_HUMAN R107C Disease ACADS_HUMAN A192V Disease ACADS_HUMAN R325W Disease ACADS_HUMAN W177R Disease ACADS_HUMAN R171W Polymorphism ACADS_HUMAN G209S Polymorphism ACADS_HUMAN S353L Disease SELPL_HUMAN M62I Polymorphism SELPL_HUMAN P246S Polymorphism SPA4L_HUMAN E16K Polymorphism PA2GD_HUMAN S80G Polymorphism PRPS1_HUMAN D51H Disease PRPS1_HUMAN H192Q Disease PRPS1_HUMAN A189V Disease PRPS1_HUMAN N113S Disease PRPS1_HUMAN D182H Disease PRPS1_HUMAN L128I Disease PCDBF_HUMAN S474R Polymorphism PCDBF_HUMAN R494Q Polymorphism XDH_HUMAN R1295W Polymorphism XDH_HUMAN K394M Polymorphism XDH_HUMAN T909M Polymorphism XDH_HUMAN R606Q Polymorphism XDH_HUMAN V1090L Polymorphism XDH_HUMAN R1175C Polymorphism XDH_HUMAN N1108T Polymorphism XDH_HUMAN I645V Polymorphism XDH_HUMAN T622I Polymorphism XDH_HUMAN E132K Polymorphism XDH_HUMAN G171R Polymorphism XDH_HUMAN P554S Polymorphism XDH_HUMAN I702V Polymorphism XDH_HUMAN D583A Polymorphism XDH_HUMAN K616N Polymorphism XDH_HUMAN T234M Polymorphism LCK_HUMAN P446L Disease LCK_HUMAN A352V Disease LCK_HUMAN V27L Disease TSYL1_HUMAN A74P Polymorphism TSYL1_HUMAN P62S Polymorphism ABC3B_HUMAN P98L Polymorphism ABC3B_HUMAN T146K Polymorphism ABC3B_HUMAN K62E Polymorphism TULP2_HUMAN E245K Polymorphism CP27A_HUMAN R474Q Disease CP27A_HUMAN R395C Disease CP27A_HUMAN R474W Disease CP27A_HUMAN R405Q Disease CP27A_HUMAN R395S Disease CP27A_HUMAN G145E Disease CP27A_HUMAN R479C Disease TELT_HUMAN R87Q Disease PRGR_HUMAN L660V Polymorphism PRGR_HUMAN R625I Polymorphism PRGR_HUMAN A50T Polymorphism PRGR_HUMAN A120V Polymorphism PRGR_HUMAN M301R Polymorphism PRGR_HUMAN Q536P Polymorphism PRGR_HUMAN S344T Polymorphism PRGR_HUMAN A444S Polymorphism PRGR_HUMAN S865L Polymorphism PRGR_HUMAN L651V Polymorphism PRGR_HUMAN P186L Polymorphism PRGR_HUMAN V529L Polymorphism SMBP2_HUMAN L426P Disease SMBP2_HUMAN E382K Disease SMBP2_HUMAN D565N Disease SMBP2_HUMAN L364P Disease SMBP2_HUMAN T671A Polymorphism SMBP2_HUMAN D974E Disease SMBP2_HUMAN L361P Disease SMBP2_HUMAN T221A Disease SMBP2_HUMAN L192P Disease SMBP2_HUMAN V580I Disease SMBP2_HUMAN R637C Disease SMBP2_HUMAN H213R Disease SMBP2_HUMAN R694W Polymorphism SMBP2_HUMAN E334K Disease SMBP2_HUMAN T879K Disease SMBP2_HUMAN N583I Disease SMBP2_HUMAN R603H Disease SMBP2_HUMAN C241R Disease SMBP2_HUMAN E514K Disease SMBP2_HUMAN E928K Polymorphism SMBP2_HUMAN L577P Disease SMBP2_HUMAN G586C Disease EXT2_HUMAN I380T Disease EXT2_HUMAN A202V Disease EXT2_HUMAN C85R Disease EXT2_HUMAN D227N Disease EXT2_HUMAN R179S Disease EXT2_HUMAN R223P Disease EXT2_HUMAN L152R Disease PCOC2_HUMAN P292T Polymorphism NEBU_HUMAN G5934E Polymorphism NAGPA_HUMAN I465T Polymorphism HAPIP_HUMAN E1326D Polymorphism LAP2B_HUMAN L426F Polymorphism NPS3A_HUMAN R100Q Polymorphism CP7A1_HUMAN N233S Polymorphism CP7A1_HUMAN D347N Polymorphism CP7A1_HUMAN F100S Polymorphism SIGL6_HUMAN L46V Polymorphism SIGL6_HUMAN L251F Polymorphism NAGS_HUMAN S410P Disease NAGS_HUMAN W484R Disease NAGS_HUMAN A279P Disease NAGS_HUMAN C200R Disease NAGS_HUMAN A518T Disease NAGS_HUMAN L430P Disease CD4_HUMAN F227S Polymorphism CD4_HUMAN K191E Polymorphism FXYD5_HUMAN S35A Polymorphism ARC1B_HUMAN K36N Polymorphism UBP10_HUMAN M200V Polymorphism UBP10_HUMAN S203P Polymorphism UBP10_HUMAN V204L Polymorphism PLCE_HUMAN Y77C Polymorphism ZN350_HUMAN S501R Polymorphism ZN350_HUMAN S472P Polymorphism ZN350_HUMAN P66L Polymorphism ZN350_HUMAN V524I Polymorphism CB024_HUMAN T262I Polymorphism NEUY_HUMAN L22M Polymorphism NEUY_HUMAN L7P Polymorphism ZCPW1_HUMAN T153A Polymorphism CJ003_HUMAN A99T Polymorphism CJ003_HUMAN L378H Polymorphism CF152_HUMAN L24S Polymorphism BCA3_HUMAN K23R Polymorphism BAXA_HUMAN G67R Disease BAXA_HUMAN G108V Disease ABCBB_HUMAN D482G Disease ABCBB_HUMAN G982R Disease ABCBB_HUMAN V444A Polymorphism ABCBB_HUMAN R1153C Disease ABCBB_HUMAN E297G Disease ABCBB_HUMAN R1268Q Disease ABCBB_HUMAN K461E Disease LRP1_HUMAN A217V Polymorphism LRP1_HUMAN N166D Polymorphism TLN2_HUMAN F2266L Polymorphism TLN2_HUMAN A1148S Polymorphism PPARG_HUMAN Q314P Disease PPARG_HUMAN R316H Disease PPARG_HUMAN P40A Polymorphism PPARG_HUMAN F388L Disease PPARG_HUMAN P12A Polymorphism PPARG_HUMAN P113Q Polymorphism PPARG_HUMAN R425C Disease TM16B_HUMAN S501A Polymorphism TM16B_HUMAN V108A Polymorphism FAAH_HUMAN P129T Polymorphism ZDHC4_HUMAN V53M Polymorphism ARL11_HUMAN S22L Polymorphism ARL11_HUMAN P131L Polymorphism ARL11_HUMAN C148R Polymorphism ARL11_HUMAN E164K Polymorphism ECE1_HUMAN T341I Polymorphism BGH3_HUMAN R124C Disease BGH3_HUMAN G623D Disease BGH3_HUMAN R555Q Disease BGH3_HUMAN R124L Disease BGH3_HUMAN L527R Disease BGH3_HUMAN A546T Disease BGH3_HUMAN N622K Disease BGH3_HUMAN L518R Disease BGH3_HUMAN I200F Polymorphism BGH3_HUMAN R555W Disease BGH3_HUMAN P501T Disease BGH3_HUMAN H626P Disease BGH3_HUMAN T538R Disease BGH3_HUMAN R124H Disease BGH3_HUMAN H626R Disease BGH3_HUMAN L518P Disease BGH3_HUMAN R124S Disease CEAM8_HUMAN R114K Polymorphism KLC2_HUMAN P517S Polymorphism NEMO_HUMAN L227P Disease NEMO_HUMAN A288G Disease NEMO_HUMAN D406V Disease NEMO_HUMAN C417F Disease NEMO_HUMAN R175P Disease NEMO_HUMAN D311N Disease NEMO_HUMAN M407V Disease NEMO_HUMAN C417R Disease COR1A_HUMAN T443P Polymorphism COR1A_HUMAN S356D Polymorphism COR1A_HUMAN K355D Polymorphism COR1A_HUMAN R415K Polymorphism MEFV_HUMAN F479L Disease MEFV_HUMAN T681I Disease MEFV_HUMAN R202Q Polymorphism MEFV_HUMAN R761H Disease MEFV_HUMAN K695R Disease MEFV_HUMAN V726A Disease MEFV_HUMAN P369S Disease MEFV_HUMAN L110P Disease MEFV_HUMAN G138A Disease MEFV_HUMAN A744S Disease MEFV_HUMAN E167D Disease MEFV_HUMAN M680L Disease MEFV_HUMAN M680I Disease MEFV_HUMAN R653H Disease MEFV_HUMAN S675N Disease MEFV_HUMAN R408Q Disease MEFV_HUMAN E230K Disease MEFV_HUMAN E148Q Disease MEFV_HUMAN T267I Disease MEFV_HUMAN I591T Disease MEFV_HUMAN M694V Disease MEFV_HUMAN M694I Disease DGUOK_HUMAN L250S Disease DGUOK_HUMAN R142K Disease DGUOK_HUMAN E227K Disease RBFAL_HUMAN K276Q Polymorphism RBFAL_HUMAN M122V Polymorphism RBFAL_HUMAN N245H Polymorphism PYR5_HUMAN V109G Disease PYR5_HUMAN S30G Polymorphism PYR5_HUMAN G429R Disease PYR5_HUMAN R96G Disease PYR5_HUMAN G213A Polymorphism PYR5_HUMAN I446V Polymorphism DNAS1_HUMAN R244Q Polymorphism DNAS1_HUMAN Q31E Polymorphism DNAS1_HUMAN V114M Polymorphism DNAS1_HUMAN P154A Polymorphism DNAS1_HUMAN R207C Polymorphism GCSP_HUMAN R515S Disease GCSP_HUMAN S564I Disease GCSP_HUMAN A283P Disease CO1A2_HUMAN G787C Disease CO1A2_HUMAN N249I Polymorphism CO1A2_HUMAN G766V Disease CO1A2_HUMAN G997D Disease CO1A2_HUMAN G433E Disease CO1A2_HUMAN G331D Disease CO1A2_HUMAN G973V Disease CO1A2_HUMAN G715D Disease CO1A2_HUMAN G409V Disease CO1A2_HUMAN E1189D Polymorphism CO1A2_HUMAN G676V Disease CO1A2_HUMAN G892D Disease CO1A2_HUMAN G736C Disease CO1A2_HUMAN G334C Disease CO1A2_HUMAN T276A Polymorphism CO1A2_HUMAN G337C Disease CO1A2_HUMAN G730C Disease CO1A2_HUMAN G835S Disease CO1A2_HUMAN G754R Disease CO1A2_HUMAN G1066D Disease CO1A2_HUMAN G877C Disease CO1A2_HUMAN G211D Disease CO1A2_HUMAN G778S Disease CO1A2_HUMAN G634V Disease CO1A2_HUMAN G328S Disease CO1A2_HUMAN G1102R Disease CO1A2_HUMAN G1012S Disease CO1A2_HUMAN P1101L Polymorphism CO1A2_HUMAN G1078C Disease CO1A2_HUMAN G790D Disease CO1A2_HUMAN G511D Disease CO1A2_HUMAN G337S Disease CO1A2_HUMAN G743A Polymorphism CO1A2_HUMAN G751S Disease CO1A2_HUMAN G640S Disease CO1A2_HUMAN G1096A Disease CO1A2_HUMAN G562C Disease CO1A2_HUMAN G796S Disease CO1A2_HUMAN T1148P Disease CO1A2_HUMAN G955S Disease CO1A2_HUMAN G349C Disease CO1A2_HUMAN G517R Disease CO1A2_HUMAN P1198S Polymorphism CO1A2_HUMAN G784R Disease CO1A2_HUMAN R822H Polymorphism CO1A2_HUMAN A549P Polymorphism CO1A2_HUMAN G637D Disease CO1A2_HUMAN G895D Disease CO1A2_HUMAN G949S Disease CO1A2_HUMAN F1022L Polymorphism CO1A2_HUMAN G586R Disease CO1A2_HUMAN G547R Disease CO1A2_HUMAN G460S Disease CO1A2_HUMAN G592S Disease CO1A2_HUMAN G670D Disease MLL3_HUMAN P526T Polymorphism MLL3_HUMAN I823N Polymorphism MLL3_HUMAN I823T Polymorphism SNTB2_HUMAN D424E Polymorphism CO8G_HUMAN H124N Polymorphism CO8G_HUMAN R69Q Polymorphism TRI34_HUMAN D282H Polymorphism TRI34_HUMAN T276S Polymorphism DESP_HUMAN R2366C Disease DESP_HUMAN R1738Q Polymorphism DESP_HUMAN S299R Disease DESP_HUMAN R1255K Disease DESP_HUMAN Y1512C Polymorphism DESP_HUMAN N287K Disease DESP_HUMAN R1775I Disease ZNF41_HUMAN I167R Polymorphism ZNF41_HUMAN P153L Disease ZNF41_HUMAN D357E Polymorphism PPAC_HUMAN Q105R Polymorphism TICN2_HUMAN G353S Polymorphism ASPM_HUMAN L3132R Polymorphism ASPM_HUMAN L2647I Polymorphism ASPM_HUMAN S2562G Polymorphism PDGFB_HUMAN I88V Polymorphism RNH1_HUMAN L4F Polymorphism NMUR2_HUMAN F315L Polymorphism NMUR2_HUMAN S298T Polymorphism NMUR2_HUMAN M388V Polymorphism NMUR2_HUMAN T395A Polymorphism MMP10_HUMAN R53K Polymorphism MMP10_HUMAN G65R Polymorphism MMP10_HUMAN L4V Polymorphism MMP10_HUMAN F226L Polymorphism MMP10_HUMAN H475L Polymorphism MMP10_HUMAN L440F Polymorphism MMP10_HUMAN G282E Polymorphism SCNAA_HUMAN W493R Polymorphism SCNAA_HUMAN C618F Polymorphism SCNAA_HUMAN S562L Disease SCNAA_HUMAN T663A Polymorphism ANTR2_HUMAN G105D Disease ANTR2_HUMAN L329R Disease ANTR2_HUMAN Y381C Disease ANTR2_HUMAN P357A Polymorphism ANTR2_HUMAN I189T Disease ANTR2_HUMAN L45P Disease ANTR2_HUMAN C218R Disease ALS2_HUMAN R1406K Polymorphism ALS2_HUMAN M368V Polymorphism ALS2_HUMAN H102R Polymorphism ETV7_HUMAN P212L Polymorphism ZN202_HUMAN G533A Polymorphism ZN202_HUMAN A154V Polymorphism ALG1_HUMAN D429E Polymorphism EDNRB_HUMAN F292L Disease EDNRB_HUMAN W276C Disease EDNRB_HUMAN A183G Disease EDNRB_HUMAN L7Q Polymorphism EDNRB_HUMAN T244M Polymorphism EDNRB_HUMAN G57S Disease EDNRB_HUMAN M374I Disease EDNRB_HUMAN S305N Disease EDNRB_HUMAN P383L Disease EDNRB_HUMAN P5T Polymorphism EDNRB_HUMAN L17F Polymorphism EDNRB_HUMAN R319W Disease EDNRB_HUMAN F112V Polymorphism TRI45_HUMAN C375Y Polymorphism TRI45_HUMAN R413Q Polymorphism TRI45_HUMAN T496M Polymorphism N4BM_HUMAN L46V Polymorphism TMG2_HUMAN G116C Polymorphism FOXJ2_HUMAN P310S Polymorphism EDN2_HUMAN P168L Polymorphism AMOL2_HUMAN D731E Polymorphism PCP_HUMAN E112D Polymorphism CN029_HUMAN F334L Polymorphism MCCD1_HUMAN T53M Polymorphism MCCD1_HUMAN N45S Polymorphism MCCD1_HUMAN K42E Polymorphism F10A4_HUMAN S71L Polymorphism BAD_HUMAN A107S Polymorphism SAV1_HUMAN A185D Disease GSTT1_HUMAN D140N Polymorphism GSTT1_HUMAN A20T Polymorphism GSTT1_HUMAN V168I Polymorphism GSTT1_HUMAN E172K Polymorphism DCX_HUMAN R101L Disease DCX_HUMAN D104N Disease DCX_HUMAN R234W Disease DCX_HUMAN G142A Disease DCX_HUMAN Y167H Disease DCX_HUMAN R144S Disease DCX_HUMAN L85S Disease DCX_HUMAN S89R Disease DCX_HUMAN T245R Disease HNF1A_HUMAN P519L Disease HNF1A_HUMAN V259D Disease HNF1A_HUMAN R272H Disease HNF1A_HUMAN H143Y Disease HNF1A_HUMAN T620I Disease HNF1A_HUMAN R263C Disease HNF1A_HUMAN P447L Disease HNF1A_HUMAN H514R Polymorphism HNF1A_HUMAN G20R Disease HNF1A_HUMAN R159W Disease HNF1A_HUMAN K117E Disease HNF1A_HUMAN R200W Disease HNF1A_HUMAN R159Q Disease HNF1A_HUMAN T260M Disease HNF1A_HUMAN L12H Disease HNF1A_HUMAN S432C Disease HNF1A_HUMAN V133M Disease HNF1A_HUMAN Y122C Disease HNF1A_HUMAN G415R Disease HNF1A_HUMAN R131Q Disease HNF1A_HUMAN E619K Disease HNF1A_HUMAN I618M Disease HNF1A_HUMAN S142F Disease HNF1A_HUMAN G31D Disease HNF1A_HUMAN A161T Disease HNF1A_HUMAN R271W Disease HNF1A_HUMAN R203C Disease HNF1A_HUMAN E48K Disease HNF1A_HUMAN R203H Disease HNF1A_HUMAN L107R Disease HNF1A_HUMAN R131W Disease HNF1A_HUMAN R229Q Disease HNF1A_HUMAN K205Q Disease HNF1A_HUMAN I128N Disease HNF1A_HUMAN A98V Polymorphism HNF1A_HUMAN R583G Disease HNF1A_HUMAN S594I Disease HNF1A_HUMAN I27L Polymorphism HNF1A_HUMAN K158N Disease HNF1A_HUMAN P129T Disease HNF1A_HUMAN S487N Polymorphism HNF1A_HUMAN C241G Disease HNF1A_HUMAN T537R Disease HNF1A_HUMAN L254M Polymorphism ENH1_HUMAN F150L Polymorphism ENH1_HUMAN V81L Polymorphism GABR2_HUMAN T869A Polymorphism GABR2_HUMAN Y628F Polymorphism KCMB1_HUMAN E64K Polymorphism MGR7_HUMAN Y433F Polymorphism ZNF45_HUMAN R255K Polymorphism ZNF45_HUMAN R504K Polymorphism ZNF45_HUMAN T299A Polymorphism ZNF45_HUMAN A187T Polymorphism ZNF45_HUMAN P303R Polymorphism POMT1_HUMAN V428D Disease POMT1_HUMAN A200P Disease POMT1_HUMAN G76R Disease MYPC3_HUMAN S236G Polymorphism MYPC3_HUMAN H257P Disease MYPC3_HUMAN R654H Disease MYPC3_HUMAN V896M Disease MYPC3_HUMAN R382W Polymorphism MYPC3_HUMAN R502W Disease MYPC3_HUMAN E542Q Disease MYPC3_HUMAN Q998E Polymorphism MYPC3_HUMAN A1255T Disease MYPC3_HUMAN E258K Disease MYPC3_HUMAN N755K Disease MYPC3_HUMAN G279A Disease MYPC3_HUMAN V158M Polymorphism MYPC3_HUMAN V189I Polymorphism MYPC3_HUMAN K811R Disease MYPC3_HUMAN A833V Disease MYPC3_HUMAN A1194T Disease MYPC3_HUMAN R281Q Polymorphism MYPC3_HUMAN R326Q Disease MYPC3_HUMAN L383V Polymorphism MYPC3_HUMAN A522T Polymorphism MYPC3_HUMAN L352P Disease MYPC3_HUMAN G278E Disease MYPC3_HUMAN R1048C Polymorphism 5HT1B_HUMAN E374K Polymorphism 5HT1B_HUMAN I367V Polymorphism 5HT1B_HUMAN F124C Polymorphism 5HT1B_HUMAN F219L Polymorphism ADDB_HUMAN E335D Polymorphism ADDB_HUMAN D28N Polymorphism ADDB_HUMAN S663R Polymorphism CX3C1_HUMAN T57A Polymorphism CX3C1_HUMAN T280M Polymorphism CX3C1_HUMAN V249I Polymorphism CX3C1_HUMAN V147I Polymorphism CX3C1_HUMAN V122I Polymorphism SEM3F_HUMAN A474G Polymorphism SEM3F_HUMAN L503M Polymorphism EMAL2_HUMAN R357H Polymorphism MYOTI_HUMAN S60C Disease MYOTI_HUMAN S55F Disease MYOTI_HUMAN S95I Disease MYOTI_HUMAN S60F Disease MYOTI_HUMAN T57I Disease CSPG2_HUMAN G428D Polymorphism CSPG2_HUMAN F2301Y Polymorphism CSPG2_HUMAN S300L Polymorphism CSPG2_HUMAN K1516R Polymorphism CSPG2_HUMAN D2937Y Polymorphism CSPG2_HUMAN V2315L Polymorphism PA24A_HUMAN V224I Polymorphism PA24A_HUMAN K651R Polymorphism PTGDS_HUMAN T176S Polymorphism PTGDS_HUMAN V16L Polymorphism PTGDS_HUMAN A99G Polymorphism PTGDS_HUMAN L77F Polymorphism PTGDS_HUMAN D19G Polymorphism PTGDS_HUMAN Q127H Polymorphism PTGDS_HUMAN G100D Polymorphism PTGDS_HUMAN R56Q Polymorphism PTGDS_HUMAN T73A Polymorphism PTGDS_HUMAN Q36P Polymorphism PTGDS_HUMAN A12V Polymorphism BMP2_HUMAN A106T Polymorphism BMP2_HUMAN S37A Polymorphism 5HT1D_HUMAN S265L Polymorphism CALC_HUMAN S76R Polymorphism CALC_HUMAN D57N Polymorphism