1A01_HUMAN A100E Polymorphism 1A01_HUMAN D114A Polymorphism 1A01_HUMAN F33S Polymorphism 1A01_HUMAN G80R Polymorphism 1A01_HUMAN I121M Polymorphism 1A01_HUMAN M91V Polymorphism 1A01_HUMAN R180L Polymorphism 1A01_HUMAN R41S Polymorphism 1A01_HUMAN V182A Polymorphism 1A02_HUMAN A173T Polymorphism 1A02_HUMAN A65G Polymorphism 1A02_HUMAN D54N Polymorphism 1A02_HUMAN E190D Polymorphism 1A02_HUMAN F33Y Polymorphism 1A02_HUMAN H94Q Polymorphism 1A02_HUMAN H98D Polymorphism 1A02_HUMAN K90N Polymorphism 1A02_HUMAN L180Q Polymorphism 1A02_HUMAN L180W Polymorphism 1A02_HUMAN M162K Polymorphism 1A02_HUMAN Q67R Polymorphism 1A02_HUMAN R121M Polymorphism 1A02_HUMAN T187E Polymorphism 1A02_HUMAN T97I Polymorphism 1A02_HUMAN V119L Polymorphism 1A02_HUMAN V176E Polymorphism 1A02_HUMAN W131G Polymorphism 1A02_HUMAN W191G Polymorphism 1A02_HUMAN Y123C Polymorphism 1A02_HUMAN Y123F Polymorphism 1A03_HUMAN D185E Polymorphism 1A03_HUMAN E176V Polymorphism 1A03_HUMAN G199R Polymorphism 1A03_HUMAN L180Q Polymorphism 1A11_HUMAN A176E Polymorphism 1A11_HUMAN E43K Polymorphism 1A11_HUMAN F133L Polymorphism 1A11_HUMAN H175R Polymorphism 1A11_HUMAN K168E Polymorphism 1A11_HUMAN R187T Polymorphism 1A11_HUMAN T345S Polymorphism 1A23_HUMAN K151N Polymorphism 1A23_HUMAN L180W Polymorphism 1A24_HUMAN A5G Polymorphism 1A24_HUMAN E86G Polymorphism 1A24_HUMAN F123Y Polymorphism 1A24_HUMAN G131W Polymorphism 1A24_HUMAN G89R Polymorphism 1A24_HUMAN L119V Polymorphism 1A24_HUMAN M121R Polymorphism 1A24_HUMAN Q180L Polymorphism 1A24_HUMAN Q180W Polymorphism 1A24_HUMAN T187R Polymorphism 1A24_HUMAN T206A Polymorphism 1A25_HUMAN H94Q Polymorphism 1A25_HUMAN Y33F Polymorphism 1A26_HUMAN A100E Polymorphism 1A26_HUMAN E176V Polymorphism 1A26_HUMAN F60L Polymorphism 1A26_HUMAN I306V Polymorphism 1A26_HUMAN N90K Polymorphism 1A26_HUMAN R187L Polymorphism 1A26_HUMAN W180Q Polymorphism 1A29_HUMAN H126D Polymorphism 1A30_HUMAN H21Q Polymorphism 1A30_HUMAN L180W Polymorphism 1A30_HUMAN Q86E Polymorphism 1A30_HUMAN Q94H Polymorphism 1A30_HUMAN R80G Polymorphism 1A30_HUMAN S33Y Polymorphism 1A30_HUMAN T55A Polymorphism 1A30_HUMAN W176R Polymorphism 1A31_HUMAN A114D Polymorphism 1A31_HUMAN M121I Polymorphism 1A31_HUMAN N90K Polymorphism 1A31_HUMAN Q138R Polymorphism 1A32_HUMAN E185D Polymorphism 1A32_HUMAN L133F Polymorphism 1A32_HUMAN L180Q Polymorphism 1A32_HUMAN M121I Polymorphism 1A32_HUMAN P129S Polymorphism 1A32_HUMAN Q138R Polymorphism 1A32_HUMAN Q168K Polymorphism 1A32_HUMAN R175H Polymorphism 1A32_HUMAN S101N Polymorphism 1A32_HUMAN V176E Polymorphism 1A33_HUMAN H195Y Polymorphism 1A33_HUMAN M358V Polymorphism 1A33_HUMAN R41S Polymorphism 1A34_HUMAN I3V Polymorphism 1A34_HUMAN K90N Polymorphism 1A34_HUMAN L312I Polymorphism 1A34_HUMAN P129S Polymorphism 1A34_HUMAN Q138R Polymorphism 1A34_HUMAN R121I Polymorphism 1A34_HUMAN W180L Polymorphism 1A36_HUMAN E185D Polymorphism 1A36_HUMAN V182A Polymorphism 1A66_HUMAN D114A Polymorphism 1A66_HUMAN R187E Polymorphism 1A66_HUMAN S28W Polymorphism 1A68_HUMAN D140H Polymorphism 1A68_HUMAN D140V Polymorphism 1A68_HUMAN D140Y Polymorphism 1A68_HUMAN D98H Polymorphism 1A68_HUMAN M121R Polymorphism 1A68_HUMAN Q94H Polymorphism 1A68_HUMAN R138E Polymorphism 1A68_HUMAN R138H Polymorphism 1A68_HUMAN S129P Polymorphism 1A68_HUMAN T97I Polymorphism 1A68_HUMAN V36M Polymorphism 1A68_HUMAN W180L Polymorphism 1A68_HUMAN W180Q Polymorphism 1A74_HUMAN G103A Polymorphism 1A74_HUMAN N90K Polymorphism 1A74_HUMAN Q86G Polymorphism 1A74_HUMAN R23W Polymorphism 1A74_HUMAN T97A Polymorphism 1B07_HUMAN D138N Polymorphism 1B07_HUMAN E187L Polymorphism 1B07_HUMAN R180D Polymorphism 1B07_HUMAN S121R Polymorphism 1B07_HUMAN V306I Polymorphism 1B08_HUMAN D180L Polymorphism 1B08_HUMAN D180R Polymorphism 1B08_HUMAN F91S Polymorphism 1B08_HUMAN L119W Polymorphism 1B08_HUMAN N138D Polymorphism 1B08_HUMAN S101N Polymorphism 1B08_HUMAN S121R Polymorphism 1B08_HUMAN S121T Polymorphism 1B08_HUMAN V176E Polymorphism 1B08_HUMAN Y140D Polymorphism 1B13_HUMAN E187L Polymorphism 1B13_HUMAN L140S Polymorphism 1B13_HUMAN L169R Polymorphism 1B13_HUMAN N138D Polymorphism 1B13_HUMAN T121R Polymorphism 1B14_HUMAN L180R Polymorphism 1B14_HUMAN S35A Polymorphism 1B15_HUMAN A48S Polymorphism 1B15_HUMAN E87N Polymorphism 1B15_HUMAN H137Y Polymorphism 1B15_HUMAN L119W Polymorphism 1B15_HUMAN P274L Polymorphism 1B15_HUMAN R121T Polymorphism 1B15_HUMAN S91C Polymorphism 1B15_HUMAN S91Y Polymorphism 1B15_HUMAN W180L Polymorphism 1B18_HUMAN H195Y Polymorphism 1B18_HUMAN L180R Polymorphism 1B18_HUMAN N87E Polymorphism 1B18_HUMAN R121N Polymorphism 1B18_HUMAN S91F Polymorphism 1B18_HUMAN T187E Polymorphism 1B18_HUMAN Y98D Polymorphism 1B27_HUMAN D101N Polymorphism 1B27_HUMAN D101S Polymorphism 1B27_HUMAN D140H Polymorphism 1B27_HUMAN D140Y Polymorphism 1B27_HUMAN H138D Polymorphism 1B27_HUMAN N121S Polymorphism 1B27_HUMAN S155R Polymorphism 1B27_HUMAN T104N Polymorphism 1B27_HUMAN V176E Polymorphism 1B27_HUMAN Y83H Polymorphism 1B35_HUMAN A48S Polymorphism 1B35_HUMAN D138N Polymorphism 1B35_HUMAN F91S Polymorphism 1B35_HUMAN G107D Polymorphism 1B35_HUMAN G40V Polymorphism 1B35_HUMAN L127V Polymorphism 1B35_HUMAN L133F Polymorphism 1B35_HUMAN L180R Polymorphism 1B35_HUMAN N87E Polymorphism 1B35_HUMAN R121S Polymorphism 1B35_HUMAN S140F Polymorphism 1B35_HUMAN S140Y Polymorphism 1B35_HUMAN T69E Polymorphism 1B35_HUMAN Y98D Polymorphism 1B37_HUMAN T104N Polymorphism 1B37_HUMAN Y195H Polymorphism 1B38_HUMAN C91F Polymorphism 1B38_HUMAN C91S Polymorphism 1B38_HUMAN E69T Polymorphism 1B38_HUMAN E82G Polymorphism 1B38_HUMAN I104T Polymorphism 1B38_HUMAN N101S Polymorphism 1B38_HUMAN N87E Polymorphism 1B38_HUMAN S35A Polymorphism 1B38_HUMAN T187M Polymorphism 1B38_HUMAN Y98D Polymorphism 1B39_HUMAN C91S Polymorphism 1B39_HUMAN C91Y Polymorphism 1B39_HUMAN D98Y Polymorphism 1B39_HUMAN F140S Polymorphism 1B39_HUMAN L119W Polymorphism 1B39_HUMAN L180R Polymorphism 1B39_HUMAN M122T Polymorphism 1B39_HUMAN N138D Polymorphism 1B39_HUMAN N87E Polymorphism 1B39_HUMAN Q168R Polymorphism 1B39_HUMAN R121S Polymorphism 1B39_HUMAN R121T Polymorphism 1B39_HUMAN S35A Polymorphism 1B39_HUMAN V36M Polymorphism 1B39_HUMAN Y123S Polymorphism 1B39_HUMAN Y33D Polymorphism 1B40_HUMAN E187L Polymorphism 1B40_HUMAN E87N Polymorphism 1B40_HUMAN H137Y Polymorphism 1B40_HUMAN L119W Polymorphism 1B40_HUMAN L180R Polymorphism 1B40_HUMAN L9V Polymorphism 1B40_HUMAN N138D Polymorphism 1B40_HUMAN Q204E Polymorphism 1B40_HUMAN S121R Polymorphism 1B40_HUMAN S121T Polymorphism 1B40_HUMAN S91F Polymorphism 1B40_HUMAN T167S Polymorphism 1B40_HUMAN V127L Polymorphism 1B40_HUMAN V176E Polymorphism 1B40_HUMAN V17L Polymorphism 1B40_HUMAN W171L Polymorphism 1B40_HUMAN Y140S Polymorphism 1B41_HUMAN N104K Polymorphism 1B41_HUMAN N138D Polymorphism 1B41_HUMAN R121S Polymorphism 1B41_HUMAN V127L Polymorphism 1B41_HUMAN W119L Polymorphism 1B42_HUMAN Y33H Polymorphism 1B44_HUMAN D140Y Polymorphism 1B44_HUMAN D180L Polymorphism 1B44_HUMAN D180R Polymorphism 1B44_HUMAN D85E Polymorphism 1B44_HUMAN E87N Polymorphism 1B44_HUMAN L187T Polymorphism 1B44_HUMAN N101S Polymorphism 1B44_HUMAN T65A Polymorphism 1B45_HUMAN Q139R Polymorphism 1B45_HUMAN S191W Polymorphism 1B46_HUMAN D98G Polymorphism 1B47_HUMAN D101S Polymorphism 1B47_HUMAN T104N Polymorphism 1B48_HUMAN S121R Polymorphism 1B49_HUMAN I104T Polymorphism 1B49_HUMAN K69T Polymorphism 1B49_HUMAN L56Q Polymorphism 1B49_HUMAN T48A Polymorphism 1B49_HUMAN T65A Polymorphism 1B50_HUMAN L127V Polymorphism 1B50_HUMAN W191S Polymorphism 1B51_HUMAN E176V Polymorphism 1B51_HUMAN H195Y Polymorphism 1B51_HUMAN L180D Polymorphism 1B51_HUMAN S155R Polymorphism 1B51_HUMAN W191G Polymorphism 1B52_HUMAN E176V Polymorphism 1B52_HUMAN H195Y Polymorphism 1B53_HUMAN I118T Polymorphism 1B53_HUMAN L127V Polymorphism 1B53_HUMAN N101D Polymorphism 1B53_HUMAN N101S Polymorphism 1B53_HUMAN S140F Polymorphism 1B53_HUMAN V176E Polymorphism 1B53_HUMAN Y123S Polymorphism 1B53_HUMAN Y195H Polymorphism 1B54_HUMAN Y33H Polymorphism 1B55_HUMAN E176V Polymorphism 1B55_HUMAN L127V Polymorphism 1B55_HUMAN L140Y Polymorphism 1B55_HUMAN L180R Polymorphism 1B55_HUMAN S101N Polymorphism 1B55_HUMAN S155R Polymorphism 1B55_HUMAN T121R Polymorphism 1B55_HUMAN T121S Polymorphism 1B55_HUMAN T187E Polymorphism 1B55_HUMAN T187L Polymorphism 1B55_HUMAN W119L Polymorphism 1B56_HUMAN E69T Polymorphism 1B56_HUMAN L127V Polymorphism 1B56_HUMAN L140S Polymorphism 1B56_HUMAN L140Y Polymorphism 1B56_HUMAN L180W Polymorphism 1B56_HUMAN N138D Polymorphism 1B56_HUMAN S101N Polymorphism 1B56_HUMAN T121R Polymorphism 1B56_HUMAN V176E Polymorphism 1B56_HUMAN W119L Polymorphism 1B56_HUMAN Y195H Polymorphism 1B57_HUMAN D138N Polymorphism 1B57_HUMAN H137Y Polymorphism 1B57_HUMAN L180R Polymorphism 1B57_HUMAN S140Y Polymorphism 1B57_HUMAN V121R Polymorphism 1B57_HUMAN V127L Polymorphism 1B58_HUMAN G86E Polymorphism 1B58_HUMAN L187T Polymorphism 1B58_HUMAN R121W Polymorphism 1B58_HUMAN V176A Polymorphism 1B58_HUMAN W171L Polymorphism 1B67_HUMAN A93R Polymorphism 1B67_HUMAN E100V Polymorphism 1B67_HUMAN E69G Polymorphism 1B67_HUMAN I76V Polymorphism 1B67_HUMAN I90K Polymorphism 1B67_HUMAN N87E Polymorphism 1B67_HUMAN T97A Polymorphism 1B78_HUMAN D98Y Polymorphism 1B78_HUMAN F91C Polymorphism 1B82_HUMAN D186G Polymorphism 1C01_HUMAN D138N Polymorphism 1C01_HUMAN E179Q Polymorphism 1C01_HUMAN E5A Polymorphism 1C01_HUMAN M272V Polymorphism 1C01_HUMAN N92K Polymorphism 1C01_HUMAN R180W Polymorphism 1C01_HUMAN S202T Polymorphism 1C01_HUMAN W243R Polymorphism 1C01_HUMAN Y140F Polymorphism 1C01_HUMAN Y140S Polymorphism 1C02_HUMAN E179Q Polymorphism 1C02_HUMAN E5A Polymorphism 1C02_HUMAN I10L Polymorphism 1C02_HUMAN K202T Polymorphism 1C02_HUMAN N92K Polymorphism 1C03_HUMAN D138V Polymorphism 1C03_HUMAN G115R Polymorphism 1C03_HUMAN I118T Polymorphism 1C03_HUMAN I119L Polymorphism 1C03_HUMAN K90N Polymorphism 1C03_HUMAN N104K Polymorphism 1C03_HUMAN R121S Polymorphism 1C03_HUMAN S101N Polymorphism 1C03_HUMAN V127L Polymorphism 1C03_HUMAN Y140S Polymorphism 1C04_HUMAN E73A Polymorphism 1C04_HUMAN G40S Polymorphism 1C04_HUMAN M327V Polymorphism 1C04_HUMAN R180L Polymorphism 1C04_HUMAN R45H Polymorphism 1C04_HUMAN S33Y Polymorphism 1C04_HUMAN S35A Polymorphism 1C04_HUMAN V52L Polymorphism 1C04_HUMAN W38R Polymorphism 1C05_HUMAN A223V Polymorphism 1C05_HUMAN F140S Polymorphism 1C05_HUMAN K201E Polymorphism 1C05_HUMAN N138D Polymorphism 1C05_HUMAN V218I Polymorphism 1C06_HUMAN D33Y Polymorphism 1C06_HUMAN W180L Polymorphism 1C07_HUMAN E201K Polymorphism 1C07_HUMAN L119F Polymorphism 1C07_HUMAN L171W Polymorphism 1C07_HUMAN L180D Polymorphism 1C07_HUMAN N104K Polymorphism 1C07_HUMAN N90K Polymorphism 1C07_HUMAN S101N Polymorphism 1C07_HUMAN S140F Polymorphism 1C07_HUMAN T187L Polymorphism 1C07_HUMAN T363A Polymorphism 1C07_HUMAN Y123S Polymorphism 1C08_HUMAN G199R Polymorphism 1C08_HUMAN L180R Polymorphism 1C08_HUMAN T162K Polymorphism 1C08_HUMAN T176E Polymorphism 1C12_HUMAN A97T Polymorphism 1C12_HUMAN K90N Polymorphism 1C12_HUMAN N104K Polymorphism 1C12_HUMAN R121W Polymorphism 1C12_HUMAN S101G Polymorphism 1C12_HUMAN S101N Polymorphism 1C12_HUMAN W180R Polymorphism 1C14_HUMAN R45H Polymorphism 1C14_HUMAN S101N Polymorphism 1C14_HUMAN T97A Polymorphism 1C15_HUMAN G40S Polymorphism 1C15_HUMAN H137Y Polymorphism 1C15_HUMAN H45R Polymorphism 1C15_HUMAN L140F Polymorphism 1C15_HUMAN L140S Polymorphism 1C15_HUMAN N90K Polymorphism 1C15_HUMAN T97A Polymorphism 1C16_HUMAN C157W Polymorphism 1C16_HUMAN H153D Polymorphism 1C16_HUMAN N104K Polymorphism 1C16_HUMAN Q180W Polymorphism 1C16_HUMAN S101N Polymorphism 1C17_HUMAN A24T Polymorphism 1C17_HUMAN L10I Polymorphism 1C18_HUMAN V319A Polymorphism 209L1_HUMAN D291N Polymorphism 2AAB_HUMAN G90D Disease 2AAB_HUMAN K343E Disease 2AAB_HUMAN L499I Disease 2AAB_HUMAN S365P Disease 2AAB_HUMAN V500G Disease 2B11_HUMAN G115V Polymorphism 2B11_HUMAN L96I Polymorphism 2B11_HUMAN Q39E Polymorphism 2B11_HUMAN Q99D Polymorphism 2B11_HUMAN R100A Polymorphism 2B11_HUMAN R100E Polymorphism 2B11_HUMAN T106N Polymorphism 2B11_HUMAN V114A Polymorphism 2B14_HUMAN A103E Polymorphism 2B14_HUMAN D86S Polymorphism 2B14_HUMAN G115V Polymorphism 2B14_HUMAN K100E Polymorphism 2B14_HUMAN K100R Polymorphism 2B14_HUMAN L96I Polymorphism 2B14_HUMAN Q99D Polymorphism 2B17_HUMAN R58S Polymorphism 2B17_HUMAN T106N Polymorphism 2B17_HUMAN V107Y Polymorphism 2B18_HUMAN F96I Polymorphism 2B18_HUMAN G115V Polymorphism 2B18_HUMAN S86D Polymorphism 2B1B_HUMAN G115V Polymorphism 2B1B_HUMAN R100E Polymorphism 2B31_HUMAN R40C Polymorphism 2B32_HUMAN D86S Polymorphism 2B32_HUMAN D86V Polymorphism 2B32_HUMAN G115V Polymorphism 2B32_HUMAN H59S Polymorphism 2B32_HUMAN H59Y Polymorphism 2B32_HUMAN L96I Polymorphism 2B32_HUMAN R80T Polymorphism 2B32_HUMAN Y66N Polymorphism 2B32_HUMAN Y89S Polymorphism 2DMA_HUMAN D163H Polymorphism 2DMA_HUMAN H162Q Polymorphism 2DMA_HUMAN V166I Polymorphism 2DMB_HUMAN A162E Polymorphism 2DMB_HUMAN A162V Polymorphism 2DMB_HUMAN I197T Polymorphism 2DMB_HUMAN S45F Polymorphism 2DOB_HUMAN R18Q Polymorphism 2DOB_HUMAN V244I Polymorphism 2DRA_HUMAN V242L Polymorphism 3BHS1_HUMAN F285L Polymorphism 3BHS1_HUMAN I78V Polymorphism 3BHS1_HUMAN T366N Polymorphism 3BHS2_HUMAN A81T Disease 3BHS2_HUMAN E141K Disease 3BHS2_HUMAN E93Q Polymorphism 3BHS2_HUMAN G128R Disease 3BHS2_HUMAN G293V Disease 3BHS2_HUMAN K215E Disease 3BHS2_HUMAN L172R Disease 3BHS2_HUMAN L235S Disease 3BHS2_HUMAN P185L Disease 3BHS2_HUMAN P221H Disease 3BHS2_HUMAN P221T Disease 3BHS2_HUMAN S212G Disease 3BHS2_HUMAN T258R Disease 3HAO_HUMAN V37I Polymorphism 3MG_HUMAN A258V Polymorphism 3MG_HUMAN A298S Polymorphism 41_HUMAN V214I Polymorphism 5HT1A_HUMAN G22S Polymorphism 5HT1A_HUMAN I28V Polymorphism 5HT1A_HUMAN P16L Polymorphism 5HT1A_HUMAN P184L Polymorphism 5HT1A_HUMAN R220L Polymorphism 5HT1B_HUMAN E374K Polymorphism 5HT1B_HUMAN F219L Polymorphism 5HT1B_HUMAN I367V Polymorphism 5HT1D_HUMAN S265L Polymorphism 5HT1E_HUMAN A208T Polymorphism 5HT1E_HUMAN S262F Polymorphism 5HT2A_HUMAN I197V Polymorphism 5HT7R_HUMAN P279L Polymorphism 5NTD_HUMAN T376A Polymorphism 68MP_HUMAN I9V Polymorphism 8ODP_HUMAN M124V Polymorphism A1AG1_HUMAN Q38R Polymorphism A1AG1_HUMAN V174M Polymorphism A1AG2_HUMAN R38Q Polymorphism A1AT_HUMAN A360T Polymorphism A1AT_HUMAN E288V Polymorphism A1AT_HUMAN E400D Polymorphism A1AT_HUMAN G139S Polymorphism A1AT_HUMAN V237A Polymorphism A1BG_HUMAN H395R Polymorphism A2AP_HUMAN R434K Polymorphism A2AP_HUMAN V411M Disease A2MG_HUMAN R704H Polymorphism A2MG_HUMAN V1000I Polymorphism A4GAT_HUMAN Q163R Polymorphism A4GCT_HUMAN A218D Polymorphism A4_HUMAN E665D Disease A4_HUMAN E693K Disease AA2AR_HUMAN A50V Polymorphism AA2AR_HUMAN R300H Polymorphism AAAD_HUMAN I280V Polymorphism AAAT_HUMAN V512L Polymorphism AACT_HUMAN D407G Polymorphism AACT_HUMAN L78P Disease AACT_HUMAN P252A Disease AAKG2_HUMAN H383R Disease AAKG2_HUMAN N488I Disease ABC3B_HUMAN K62E Polymorphism ABC3B_HUMAN P98L Polymorphism ABC3B_HUMAN T146K Polymorphism ABC3F_HUMAN P97L Polymorphism ABC3F_HUMAN S108A Polymorphism ABC3F_HUMAN V231I Polymorphism ABCA1_HUMAN A937V Disease ABCA1_HUMAN E1172D Polymorphism ABCA1_HUMAN I883M Polymorphism ABCA1_HUMAN K776N Polymorphism ABCA1_HUMAN N1800H Disease ABCA1_HUMAN N935S Disease ABCA1_HUMAN P1648L Polymorphism ABCA1_HUMAN P2150L Disease ABCA1_HUMAN P2168L Polymorphism ABCA1_HUMAN P85L Disease ABCA1_HUMAN R1587K Polymorphism ABCA1_HUMAN R219K Polymorphism ABCA1_HUMAN S1181F Polymorphism ABCA1_HUMAN T1555I Polymorphism ABCA1_HUMAN T774P Polymorphism ABCA1_HUMAN T929I Disease ABCA1_HUMAN V399A Polymorphism ABCA1_HUMAN V771M Polymorphism ABCA1_HUMAN V825I Polymorphism ABCA1_HUMAN W590S Disease ABCA3_HUMAN N568D Disease ABCA4_HUMAN A1038V Disease ABCA4_HUMAN A2216V Polymorphism ABCA4_HUMAN A407V Disease ABCA4_HUMAN A854T Disease ABCA4_HUMAN C2150Y Disease ABCA4_HUMAN D1204N Disease ABCA4_HUMAN D1532N Disease ABCA4_HUMAN D2177N Polymorphism ABCA4_HUMAN D523E Disease ABCA4_HUMAN D645N Disease ABCA4_HUMAN E1022K Disease ABCA4_HUMAN E1036K Disease ABCA4_HUMAN E1399K Disease ABCA4_HUMAN E1817D Polymorphism ABCA4_HUMAN E2131K Disease ABCA4_HUMAN E471K Disease ABCA4_HUMAN G1508C Disease ABCA4_HUMAN G1578R Disease ABCA4_HUMAN G1961E Disease ABCA4_HUMAN G2059A Polymorphism ABCA4_HUMAN G863A Disease ABCA4_HUMAN G978C Disease ABCA4_HUMAN H1838Y Disease ABCA4_HUMAN H423R Polymorphism ABCA4_HUMAN H914R Polymorphism ABCA4_HUMAN I156V Disease ABCA4_HUMAN I1846T Polymorphism ABCA4_HUMAN K1148T Polymorphism ABCA4_HUMAN K2160R Disease ABCA4_HUMAN L1201R Disease ABCA4_HUMAN L1250P Disease ABCA4_HUMAN L1970F Disease ABCA4_HUMAN L2027F Disease ABCA4_HUMAN L2060R Disease ABCA4_HUMAN L2229P Disease ABCA4_HUMAN M1733T Disease ABCA4_HUMAN N965S Disease ABCA4_HUMAN P1314T Polymorphism ABCA4_HUMAN P1776L Disease ABCA4_HUMAN P1780A Disease ABCA4_HUMAN P1948L Polymorphism ABCA4_HUMAN Q1703K Disease ABCA4_HUMAN Q635K Disease ABCA4_HUMAN Q636H Disease ABCA4_HUMAN Q957R Disease ABCA4_HUMAN R1108H Disease ABCA4_HUMAN R1108L Disease ABCA4_HUMAN R1129L Disease ABCA4_HUMAN R1300Q Disease ABCA4_HUMAN R1517S Disease ABCA4_HUMAN R152Q Polymorphism ABCA4_HUMAN R1640Q Disease ABCA4_HUMAN R1640W Disease ABCA4_HUMAN R1820P Disease ABCA4_HUMAN R1843W Disease ABCA4_HUMAN R1898H Disease ABCA4_HUMAN R2030Q Disease ABCA4_HUMAN R2107H Disease ABCA4_HUMAN R2139W Disease ABCA4_HUMAN R2149L Disease ABCA4_HUMAN R2263L Disease ABCA4_HUMAN R602Q Disease ABCA4_HUMAN R943Q Polymorphism ABCA4_HUMAN S1063P Disease ABCA4_HUMAN S1071L Disease ABCA4_HUMAN S1689P Disease ABCA4_HUMAN S1696N Disease ABCA4_HUMAN S1736P Disease ABCA4_HUMAN T1253M Disease ABCA4_HUMAN T1428M Disease ABCA4_HUMAN T716M Disease ABCA4_HUMAN T897I Disease ABCA4_HUMAN T901A Polymorphism ABCA4_HUMAN T959I Disease ABCA4_HUMAN V1429A Disease ABCA4_HUMAN V1693I Disease ABCA4_HUMAN V1921M Polymorphism ABCA4_HUMAN V2050L Disease ABCA4_HUMAN V552I Polymorphism ABCA4_HUMAN V643M Disease ABCA4_HUMAN V931M Disease ABCA4_HUMAN V935A Disease ABCA4_HUMAN V989A Disease ABCA4_HUMAN Y2071F Disease ABCAC_HUMAN G1651S Disease ABCAC_HUMAN N1380S Disease ABCB7_HUMAN E433K Disease ABCB7_HUMAN I400M Disease ABCB7_HUMAN R315G Polymorphism ABCB7_HUMAN V411L Disease ABCB8_HUMAN V152I Polymorphism ABCBA_HUMAN A150S Polymorphism ABCBB_HUMAN D482G Disease ABCBB_HUMAN E297G Disease ABCBB_HUMAN G982R Disease ABCBB_HUMAN R1268Q Disease ABCBB_HUMAN V444A Polymorphism ABCC8_HUMAN D672N Polymorphism ABCC8_HUMAN D809N Polymorphism ABCC8_HUMAN F590L Disease ABCC8_HUMAN H124Q Disease ABCC8_HUMAN L1542P Disease ABCC8_HUMAN N405D Disease ABCC8_HUMAN R1213Q Disease ABCC8_HUMAN R1392H Disease ABCC8_HUMAN R1419C Disease ABCC8_HUMAN R1435Q Disease ABCC8_HUMAN R274Q Polymorphism ABCC8_HUMAN S1368A Polymorphism ABCC8_HUMAN T1137M Disease ABCC8_HUMAN V1571I Polymorphism ABCC8_HUMAN V559M Polymorphism ABCC9_HUMAN A1513T Disease ABCD1_HUMAN A141T Disease ABCD1_HUMAN A294T Disease ABCD1_HUMAN A616V Disease ABCD1_HUMAN A626T Disease ABCD1_HUMAN A99D Disease ABCD1_HUMAN D200V Disease ABCD1_HUMAN E271K Disease ABCD1_HUMAN E291D Disease ABCD1_HUMAN F540S Disease ABCD1_HUMAN G116R Disease ABCD1_HUMAN G343S Disease ABCD1_HUMAN G529S Disease ABCD1_HUMAN G608D Disease ABCD1_HUMAN H667D Disease ABCD1_HUMAN K217E Disease ABCD1_HUMAN K276E Disease ABCD1_HUMAN M566K Disease ABCD1_HUMAN N13T Polymorphism ABCD1_HUMAN N148S Disease ABCD1_HUMAN N214D Disease ABCD1_HUMAN P218T Disease ABCD1_HUMAN P263L Disease ABCD1_HUMAN P484R Disease ABCD1_HUMAN P534L Disease ABCD1_HUMAN P543L Disease ABCD1_HUMAN P560L Disease ABCD1_HUMAN P560R Disease ABCD1_HUMAN P560S Disease ABCD1_HUMAN Q178E Disease ABCD1_HUMAN Q544R Disease ABCD1_HUMAN R152L Disease ABCD1_HUMAN R152S Disease ABCD1_HUMAN R389G Disease ABCD1_HUMAN R401Q Disease ABCD1_HUMAN R401W Disease ABCD1_HUMAN R418W Disease ABCD1_HUMAN R518Q Disease ABCD1_HUMAN R554H Disease ABCD1_HUMAN R591P Disease ABCD1_HUMAN R591Q Disease ABCD1_HUMAN S149N Disease ABCD1_HUMAN S342P Disease ABCD1_HUMAN S606P Disease ABCD1_HUMAN S98L Disease ABCD1_HUMAN T254M Disease ABCD1_HUMAN V635M Disease ABCD1_HUMAN Y296C Disease ABCD4_HUMAN A304T Polymorphism ABCD4_HUMAN E368K Polymorphism ABCG1_HUMAN F668L Polymorphism ABCG2_HUMAN D620N Polymorphism ABCG2_HUMAN F208S Polymorphism ABCG2_HUMAN F431L Polymorphism ABCG2_HUMAN F489L Polymorphism ABCG2_HUMAN F571I Polymorphism ABCG2_HUMAN I206L Polymorphism ABCG2_HUMAN Q141K Polymorphism ABCG2_HUMAN Q166E Polymorphism ABCG2_HUMAN T316P Polymorphism ABCG2_HUMAN V12M Polymorphism ABCG5_HUMAN C600Y Polymorphism ABCG5_HUMAN E146Q Disease ABCG5_HUMAN I523V Polymorphism ABCG5_HUMAN M622V Polymorphism ABCG5_HUMAN N437K Disease ABCG5_HUMAN Q604E Polymorphism ABCG5_HUMAN R389H Disease ABCG8_HUMAN A259V Polymorphism ABCG8_HUMAN M655V Polymorphism ABCG8_HUMAN P231T Disease ABCG8_HUMAN R263Q Disease ABCG8_HUMAN R405H Disease ABCG8_HUMAN R543S Disease ABCG8_HUMAN T400K Polymorphism ABCG8_HUMAN V210M Polymorphism ABCG8_HUMAN V632A Polymorphism ABI3_HUMAN R44Q Polymorphism ABP1_HUMAN H645D Polymorphism ABTB2_HUMAN H64Q Polymorphism ACADL_HUMAN Q333K Disease ACADL_HUMAN T303S Polymorphism ACADM_HUMAN C116Y Disease ACADM_HUMAN I375T Disease ACADM_HUMAN I78T Disease ACADM_HUMAN K329E Disease ACADM_HUMAN M149I Disease ACADM_HUMAN R206L Disease ACADM_HUMAN S245L Disease ACADM_HUMAN T121I Disease ACADM_HUMAN Y67H Disease ACADS_HUMAN G209S Polymorphism ACADS_HUMAN R380W Disease ACADS_HUMAN R383C Disease ACADV_HUMAN A359S Polymorphism ACADV_HUMAN D405H Disease ACADV_HUMAN D454N Disease ACADV_HUMAN E534K Disease ACADV_HUMAN F458L Disease ACADV_HUMAN G185S Disease ACADV_HUMAN G290D Disease ACADV_HUMAN G294E Disease ACADV_HUMAN K299N Disease ACADV_HUMAN K382Q Disease ACADV_HUMAN L602I Disease ACADV_HUMAN Q159R Disease ACADV_HUMAN R450H Disease ACADV_HUMAN R453Q Disease ACADV_HUMAN R469Q Disease ACADV_HUMAN R615Q Disease ACADV_HUMAN T260M Disease ACADV_HUMAN V174M Disease ACADV_HUMAN V283A Disease ACADV_HUMAN V317A Disease ACDSB_HUMAN L255F Disease ACDSB_HUMAN S209G Polymorphism ACE2_HUMAN K26R Polymorphism ACE2_HUMAN N638S Polymorphism ACE_HUMAN A261S Polymorphism ACE_HUMAN D592G Polymorphism ACE_HUMAN P351L Polymorphism ACES_HUMAN H353N Polymorphism ACES_HUMAN R34Q Polymorphism ACET_HUMAN S32P Polymorphism ACET_HUMAN S49G Polymorphism ACHA4_HUMAN E387G Polymorphism ACHA4_HUMAN S280F Disease ACHA4_HUMAN S280L Disease ACHA4_HUMAN S517L Polymorphism ACHA_HUMAN F301L Disease ACHA_HUMAN G198S Disease ACHA_HUMAN S314I Disease ACHA_HUMAN T299I Disease ACHA_HUMAN V201M Disease ACHA_HUMAN V330I Disease ACHB2_HUMAN Q397H Polymorphism ACHB2_HUMAN V287L Disease ACHB2_HUMAN V287M Disease ACHB4_HUMAN M467V Polymorphism ACHB4_HUMAN R136W Polymorphism ACHB4_HUMAN S140G Polymorphism ACHB_HUMAN L285M Disease ACHB_HUMAN V289M Disease ACHD_HUMAN E80K Disease ACHE_HUMAN L241F Disease ACHE_HUMAN P141L Disease ACHE_HUMAN R167L Disease ACHE_HUMAN S163L Disease ACINU_HUMAN I311M Polymorphism ACO11_HUMAN G202D Polymorphism ACO11_HUMAN P165L Polymorphism ACOX1_HUMAN M312I Polymorphism ACRO_HUMAN F166L Polymorphism ACRO_HUMAN L120V Polymorphism ACSL5_HUMAN M182V Polymorphism ACTA_HUMAN T196S Polymorphism ACTA_HUMAN T320A Polymorphism ACTC_HUMAN A297S Disease ACTC_HUMAN A333P Disease ACTC_HUMAN E101K Disease ACTC_HUMAN P166A Disease ACTHR_HUMAN D103N Disease ACTHR_HUMAN D107N Disease ACTHR_HUMAN R146H Disease ACTHR_HUMAN S74I Disease ACTHR_HUMAN Y254C Disease ACTS_HUMAN H42Y Disease ACTS_HUMAN I138M Disease ACTS_HUMAN I359L Disease ACTS_HUMAN M134V Disease ACTS_HUMAN M271R Disease ACTS_HUMAN N117S Disease ACTS_HUMAN N282K Disease ACTS_HUMAN R185G Disease ACTS_HUMAN V165L Disease ACTS_HUMAN V372F Disease ACV1B_HUMAN L408V Polymorphism ACVL1_HUMAN C51Y Disease ACVL1_HUMAN I245N Polymorphism ACVL1_HUMAN P424T Disease ACVL1_HUMAN R411Q Disease ACY2_HUMAN G274R Disease ADA1A_HUMAN C347R Polymorphism ADA2A_HUMAN N251K Polymorphism ADA33_HUMAN M764T Polymorphism ADA_HUMAN D7N Polymorphism ADA_HUMAN G139E Disease ADA_HUMAN G73C Disease ADA_HUMAN K79R Polymorphism ADA_HUMAN L151M Disease ADA_HUMAN P273L Disease ADA_HUMAN P296Q Disease ADA_HUMAN Q198P Disease ADA_HUMAN R100Q Disease ADA_HUMAN R141Q Disease ADA_HUMAN R148Q Disease ADA_HUMAN R210C Disease ADA_HUMAN T232I Disease ADA_HUMAN V128M Disease ADA_HUMAN V176M Disease ADDA_HUMAN E376D Polymorphism ADDB_HUMAN D28N Polymorphism ADDB_HUMAN E335D Polymorphism ADEC1_HUMAN N444S Polymorphism ADH1B_HUMAN N56K Polymorphism ADH1B_HUMAN R47H Polymorphism ADH1B_HUMAN T59S Polymorphism ADH1G_HUMAN I349V Polymorphism ADH1G_HUMAN P165S Polymorphism ADH1G_HUMAN P351T Polymorphism ADH1G_HUMAN R271Q Polymorphism ADH1G_HUMAN R47H Polymorphism ADH4_HUMAN I373V Polymorphism ADH4_HUMAN R317H Polymorphism ADH4_HUMAN V308I Polymorphism ADH6_HUMAN I114V Polymorphism ADIPO_HUMAN H241P Polymorphism ADIPO_HUMAN R221S Polymorphism ADRB1_HUMAN S49G Polymorphism ADRB2_HUMAN I159F Polymorphism ADRB2_HUMAN I159L Polymorphism ADRB2_HUMAN Q27E Polymorphism ADRB2_HUMAN R16G Polymorphism ADRB2_HUMAN T164I Polymorphism ADRB2_HUMAN V34M Polymorphism ADRB3_HUMAN T265M Polymorphism ADRB3_HUMAN W64R Polymorphism ADRO_HUMAN Q123R Polymorphism ADT1_HUMAN A113P Disease ADT1_HUMAN D103G Disease ADT1_HUMAN L97P Disease ADT1_HUMAN V288M Disease AGAL_HUMAN A143P Disease AGAL_HUMAN A156V Disease AGAL_HUMAN A230T Disease AGAL_HUMAN A377D Disease AGAL_HUMAN A97V Disease AGAL_HUMAN C223G Disease AGAL_HUMAN C378Y Disease AGAL_HUMAN C52R Disease AGAL_HUMAN C52S Disease AGAL_HUMAN D170V Disease AGAL_HUMAN D244N Disease AGAL_HUMAN D93G Disease AGAL_HUMAN E341K Disease AGAL_HUMAN E358K Disease AGAL_HUMAN G144V Disease AGAL_HUMAN G183D Disease AGAL_HUMAN G258R Disease AGAL_HUMAN G260A Disease AGAL_HUMAN G328A Disease AGAL_HUMAN G328R Disease AGAL_HUMAN G361R Disease AGAL_HUMAN G373D Disease AGAL_HUMAN H46R Disease AGAL_HUMAN I242N Disease AGAL_HUMAN I91T Disease AGAL_HUMAN L131P Disease AGAL_HUMAN M187V Disease AGAL_HUMAN M267I Disease AGAL_HUMAN M296I Disease AGAL_HUMAN M296V Disease AGAL_HUMAN M72V Disease AGAL_HUMAN N224D Disease AGAL_HUMAN N224S Disease AGAL_HUMAN N263S Disease AGAL_HUMAN N272K Disease AGAL_HUMAN N298S Disease AGAL_HUMAN P146S Disease AGAL_HUMAN Q279E Disease AGAL_HUMAN R356W Disease AGAL_HUMAN R49S Disease AGAL_HUMAN S235C Disease AGAL_HUMAN W236C Disease AGAL_HUMAN W236L Disease AGAL_HUMAN Y134S Disease AGAL_HUMAN Y86C Disease AGM1_HUMAN D466N Polymorphism AGT2_HUMAN S102N Polymorphism AGT2_HUMAN T212I Polymorphism AGT2_HUMAN V140I Polymorphism AGTR1_HUMAN C289W Polymorphism AGTR1_HUMAN L48V Polymorphism AGTR1_HUMAN T336P Polymorphism AGTR2_HUMAN R248K Polymorphism AHR_HUMAN M786V Polymorphism AHR_HUMAN P517S Polymorphism AHR_HUMAN R554K Polymorphism AK1BA_HUMAN D313N Polymorphism AK1BA_HUMAN M286T Polymorphism AK1BA_HUMAN P87S Polymorphism AK1C2_HUMAN L172Q Polymorphism AK1C3_HUMAN M175I Polymorphism AK1C3_HUMAN Q5H Polymorphism AK1C4_HUMAN L311V Polymorphism AK1C4_HUMAN S145C Polymorphism AL1A1_HUMAN I176F Polymorphism AL1A3_HUMAN M386V Polymorphism AL1B1_HUMAN A86V Polymorphism AL1B1_HUMAN L107R Polymorphism AL2S3_HUMAN T528I Polymorphism AL3A1_HUMAN A134S Polymorphism AL3A1_HUMAN G309E Polymorphism AL3A1_HUMAN P329A Polymorphism AL3A2_HUMAN C214Y Disease AL3A2_HUMAN D245N Disease AL3A2_HUMAN H411Y Disease AL3A2_HUMAN K266N Disease AL3A2_HUMAN K447E Disease AL3A2_HUMAN M328I Disease AL3A2_HUMAN N386S Disease AL3A2_HUMAN R228C Disease AL3A2_HUMAN V64D Disease AL3A2_HUMAN Y279N Disease AL3B2_HUMAN A50T Polymorphism AL4A1_HUMAN S352L Disease AL9A1_HUMAN C116S Polymorphism ALAT_HUMAN H13N Polymorphism ALBU_HUMAN A215T Polymorphism ALBU_HUMAN A215V Polymorphism ALBU_HUMAN E121G Polymorphism ALBU_HUMAN E420K Polymorphism ALBU_HUMAN F73Y Polymorphism ALBU_HUMAN K490E Polymorphism ALBU_HUMAN L90P Disease ALBU_HUMAN Q220L Polymorphism ALBU_HUMAN R242H Disease ALDH2_HUMAN E496K Polymorphism ALDH2_HUMAN E504K Polymorphism ALDOB_HUMAN E206Q Polymorphism ALDR_HUMAN G203S Polymorphism ALDR_HUMAN H41L Polymorphism ALDR_HUMAN L72V Polymorphism ALDR_HUMAN T287I Polymorphism ALG1_HUMAN D429E Polymorphism ALG8_HUMAN N222S Polymorphism ALG9_HUMAN P506L Polymorphism ALG9_HUMAN V289I Polymorphism ALS_HUMAN P498S Polymorphism ALS_HUMAN R548W Polymorphism ALX4_HUMAN S102P Polymorphism ALX4_HUMAN T35R Polymorphism AMACR_HUMAN G175D Polymorphism AMACR_HUMAN K277E Polymorphism AMACR_HUMAN S201L Polymorphism AMHR2_HUMAN D426G Disease AMHR2_HUMAN D491H Disease AMHR2_HUMAN H282Q Disease AMHR2_HUMAN R406Q Disease AMHR2_HUMAN V458A Disease AMOL2_HUMAN D731E Polymorphism AMPN_HUMAN L242P Polymorphism AMPN_HUMAN Q85R Polymorphism AMPN_HUMAN S751N Polymorphism AMPO_HUMAN V179A Polymorphism ANAG_HUMAN Y92H Disease ANDR_HUMAN A645D Polymorphism ANDR_HUMAN A721T Disease ANDR_HUMAN A748T Disease ANDR_HUMAN A896T Disease ANDR_HUMAN D528G Disease ANDR_HUMAN D890N Disease ANDR_HUMAN E793D Polymorphism ANDR_HUMAN F754L Disease ANDR_HUMAN F891L Disease ANDR_HUMAN G683A Disease ANDR_HUMAN G750S Disease ANDR_HUMAN H874Y Disease ANDR_HUMAN I672T Disease ANDR_HUMAN K717E Disease ANDR_HUMAN K720E Disease ANDR_HUMAN K910R Disease ANDR_HUMAN L574P Disease ANDR_HUMAN L57Q Disease ANDR_HUMAN L744F Disease ANDR_HUMAN L830P Disease ANDR_HUMAN M749I Disease ANDR_HUMAN P269S Disease ANDR_HUMAN Q64R Disease ANDR_HUMAN Q670R Disease ANDR_HUMAN Q798E Disease ANDR_HUMAN Q919R Disease ANDR_HUMAN R607Q Disease ANDR_HUMAN R629Q Disease ANDR_HUMAN R726L Disease ANDR_HUMAN R846G Disease ANDR_HUMAN S647N Disease ANDR_HUMAN S759P Disease ANDR_HUMAN S782N Disease ANDR_HUMAN S791P Disease ANDR_HUMAN T575A Disease ANDR_HUMAN T755A Disease ANDR_HUMAN T877A Disease ANDR_HUMAN T877S Disease ANDR_HUMAN V715M Disease ANDR_HUMAN V730M Disease ANDR_HUMAN V757A Disease ANDR_HUMAN V866M Disease ANDR_HUMAN Y763C Disease ANF_HUMAN V32M Polymorphism ANGI_HUMAN K84E Polymorphism ANGL4_HUMAN T266M Polymorphism ANGT_HUMAN L392M Polymorphism ANGT_HUMAN M268T Polymorphism ANGT_HUMAN T207M Polymorphism ANK1_HUMAN D844E Polymorphism ANK1_HUMAN R20T Polymorphism ANK1_HUMAN S1391T Polymorphism ANK1_HUMAN V462I Disease ANK1_HUMAN V749A Polymorphism ANKS1_HUMAN L693S Polymorphism ANPRB_HUMAN A409T Disease ANPRB_HUMAN D176E Disease ANPRB_HUMAN G413E Disease ANPRB_HUMAN Q771E Polymorphism ANPRB_HUMAN T297M Disease ANPRB_HUMAN W115G Disease ANR12_HUMAN T171S Polymorphism ANR15_HUMAN S464A Polymorphism ANR21_HUMAN S113G Polymorphism ANR21_HUMAN V135I Polymorphism ANT3_HUMAN A414T Disease ANT3_HUMAN A416P Disease ANT3_HUMAN A416S Disease ANT3_HUMAN A419V Disease ANT3_HUMAN E269K Disease ANT3_HUMAN E334K Disease ANT3_HUMAN F434L Disease ANT3_HUMAN F90L Disease ANT3_HUMAN G424D Disease ANT3_HUMAN H152Y Disease ANT3_HUMAN N167T Polymorphism ANT3_HUMAN N219D Disease ANT3_HUMAN P439T Disease ANT3_HUMAN R161Q Disease ANT3_HUMAN R391Q Polymorphism ANT3_HUMAN R425C Disease ANT3_HUMAN R425P Disease ANT3_HUMAN R457T Disease ANT3_HUMAN R79H Disease ANT3_HUMAN R79S Disease ANT3_HUMAN S426L Disease ANT3_HUMAN T147A Polymorphism ANT3_HUMAN Y95S Disease ANTR2_HUMAN P357A Polymorphism ANX11_HUMAN I457V Polymorphism ANX11_HUMAN R230C Polymorphism ANXA2_HUMAN V97L Polymorphism ANXA3_HUMAN I218N Polymorphism ANXA3_HUMAN P250L Polymorphism ANXA3_HUMAN S18N Polymorphism ANXA8_HUMAN A6S Polymorphism ANXA9_HUMAN G166D Polymorphism AOAH_HUMAN A166T Polymorphism AOC3_HUMAN Y317H Polymorphism AOFA_HUMAN F314V Polymorphism AOFA_HUMAN K520R Polymorphism AP1G1_HUMAN H684P Polymorphism AP3D1_HUMAN I1072V Polymorphism APC_HUMAN D1822V Polymorphism APC_HUMAN E1317Q Polymorphism APC_HUMAN I2738T Disease APC_HUMAN R1171H Disease APC_HUMAN S784T Disease APC_HUMAN T1313A Disease APEX1_HUMAN D147E Polymorphism APEX1_HUMAN I63V Polymorphism APEX2_HUMAN R141C Polymorphism APG16_HUMAN T300A Polymorphism APG9L_HUMAN S592G Polymorphism APMAP_HUMAN I65V Polymorphism APOA1_HUMAN D113E Polymorphism APOA1_HUMAN E163G Polymorphism APOA1_HUMAN K131M Polymorphism APOA4_HUMAN E185K Polymorphism APOA4_HUMAN E250K Polymorphism APOA4_HUMAN G74S Polymorphism APOA4_HUMAN N147S Polymorphism APOA4_HUMAN Q380H Polymorphism APOA4_HUMAN T367S Polymorphism APOA4_HUMAN V307L Polymorphism APOA5_HUMAN V153M Polymorphism APOB_HUMAN A4481T Polymorphism APOB_HUMAN A618V Polymorphism APOB_HUMAN E1218Q Polymorphism APOB_HUMAN E3432Q Polymorphism APOB_HUMAN F1437L Polymorphism APOB_HUMAN F3964Y Polymorphism APOB_HUMAN H3319D Polymorphism APOB_HUMAN K3427T Polymorphism APOB_HUMAN K4181E Polymorphism APOB_HUMAN L3949F Polymorphism APOB_HUMAN N273K Polymorphism APOB_HUMAN P145S Polymorphism APOB_HUMAN Q2680L Polymorphism APOB_HUMAN R3638Q Polymorphism APOB_HUMAN T2365A Polymorphism APOB_HUMAN T3732I Polymorphism APOB_HUMAN T4484M Polymorphism APOB_HUMAN V2092L Polymorphism APOB_HUMAN V3921I Polymorphism APOB_HUMAN V4128M Polymorphism APOB_HUMAN V730I Polymorphism APOB_HUMAN V733I Polymorphism APOC1_HUMAN I16M Polymorphism APOC2_HUMAN E60K Polymorphism APOC4_HUMAN L36P Polymorphism APOC4_HUMAN L96R Polymorphism APOD_HUMAN S115L Polymorphism APOD_HUMAN T178K Polymorphism APOE_HUMAN C130R Disease APOE_HUMAN G145D Polymorphism APOE_HUMAN Q99K Polymorphism APOE_HUMAN R152Q Polymorphism APOE_HUMAN R242Q Polymorphism APOH_HUMAN R154H Polymorphism APOH_HUMAN S107N Polymorphism APOH_HUMAN V266L Polymorphism APOL1_HUMAN K150E Polymorphism APOL1_HUMAN K255R Polymorphism APOL2_HUMAN I245V Polymorphism APT_HUMAN L109P Disease APT_HUMAN M135T Disease APT_HUMAN Q120R Polymorphism AQP1_HUMAN G164D Polymorphism AQP2_HUMAN A147T Disease AQP2_HUMAN A47V Disease AQP2_HUMAN G100V Disease AQP2_HUMAN L22V Disease AQP2_HUMAN T125M Disease AQP2_HUMAN V194I Polymorphism ARFG3_HUMAN S355R Polymorphism ARGI1_HUMAN G138V Disease ARGI1_HUMAN I11T Disease ARGI1_HUMAN T290S Polymorphism ARHG3_HUMAN L335V Polymorphism ARHGC_HUMAN Y973F Polymorphism ARK72_HUMAN A142T Polymorphism ARK72_HUMAN C214Y Polymorphism ARK72_HUMAN Q157H Polymorphism ARK73_HUMAN N215D Polymorphism ARK73_HUMAN T323A Polymorphism ARK73_HUMAN V138M Polymorphism ARL11_HUMAN C148R Polymorphism ARL11_HUMAN E164K Polymorphism ARL11_HUMAN P131L Polymorphism ARL14_HUMAN I170L Polymorphism ARL3_HUMAN L34M Polymorphism ARNT_HUMAN D517E Polymorphism ARPM2_HUMAN G247R Polymorphism ARRS_HUMAN I76V Polymorphism ARRS_HUMAN R84C Polymorphism ARRS_HUMAN V378I Polymorphism ARSA1_HUMAN N332S Polymorphism ARSA_HUMAN A212V Disease ARSA_HUMAN A314T Disease ARSA_HUMAN C172Y Disease ARSA_HUMAN D152Y Disease ARSA_HUMAN D169N Disease ARSA_HUMAN D335V Disease ARSA_HUMAN E382K Disease ARSA_HUMAN F356V Polymorphism ARSA_HUMAN G154D Disease ARSA_HUMAN G245R Disease ARSA_HUMAN G309S Disease ARSA_HUMAN G86D Disease ARSA_HUMAN G99D Disease ARSA_HUMAN H397Y Disease ARSA_HUMAN I179S Disease ARSA_HUMAN K367N Disease ARSA_HUMAN N350S Polymorphism ARSA_HUMAN N440S Polymorphism ARSA_HUMAN P155R Disease ARSA_HUMAN P167R Disease ARSA_HUMAN P231T Disease ARSA_HUMAN P377L Disease ARSA_HUMAN P425T Disease ARSA_HUMAN P426L Disease ARSA_HUMAN R244C Disease ARSA_HUMAN R244H Disease ARSA_HUMAN R370Q Disease ARSA_HUMAN R390Q Disease ARSA_HUMAN R496H Polymorphism ARSA_HUMAN R84Q Disease ARSA_HUMAN S95N Disease ARSA_HUMAN S96F Disease ARSA_HUMAN S96L Disease ARSA_HUMAN T391S Polymorphism ARSA_HUMAN W193C Polymorphism ARSB_HUMAN C117R Disease ARSB_HUMAN C192R Disease ARSB_HUMAN C521Y Disease ARSB_HUMAN F399L Disease ARSB_HUMAN H393P Disease ARSB_HUMAN L321P Disease ARSB_HUMAN M142I Disease ARSB_HUMAN P116H Disease ARSB_HUMAN Q239R Disease ARSB_HUMAN R152W Disease ARSB_HUMAN R160Q Disease ARSB_HUMAN R315Q Disease ARSB_HUMAN S384N Disease ARSB_HUMAN V358M Polymorphism ARSB_HUMAN V376M Polymorphism ARSB_HUMAN W146L Disease ARSE_HUMAN G117R Disease ARSE_HUMAN R111P Disease ARTS1_HUMAN D563N Polymorphism ARTS1_HUMAN G334D Polymorphism ARTS1_HUMAN I264M Polymorphism ARTS1_HUMAN K516R Polymorphism ARTS1_HUMAN M337V Polymorphism ARTS1_HUMAN Q718E Polymorphism ARTS1_HUMAN R115P Polymorphism ARTS1_HUMAN R713Q Polymorphism ARVC_HUMAN V175A Polymorphism ARX_HUMAN P353L Disease ARY1_HUMAN I263V Polymorphism ARY1_HUMAN M205V Polymorphism ARY1_HUMAN R117T Polymorphism ARY1_HUMAN R187Q Polymorphism ARY1_HUMAN S214A Polymorphism ARY1_HUMAN V149I Polymorphism ARY2_HUMAN I114T Polymorphism ARY2_HUMAN K268R Polymorphism ARY2_HUMAN L137F Polymorphism ARY2_HUMAN P228L Polymorphism ARY2_HUMAN R197Q Polymorphism ASAH1_HUMAN M72V Polymorphism ASAH1_HUMAN V369I Polymorphism ASAH1_HUMAN V93I Polymorphism ASB2_HUMAN P160S Polymorphism ASCC2_HUMAN Q509R Polymorphism ASM_HUMAN G577S Disease ASM_HUMAN H421Y Disease ASM_HUMAN P371S Disease ASM_HUMAN P475L Disease ASM_HUMAN S248R Disease ASM_HUMAN W391G Disease ASNS_HUMAN V209E Polymorphism ASPG_HUMAN C163S Disease ASPG_HUMAN R161Q Disease ASPG_HUMAN S72P Disease ASPG_HUMAN V12L Disease ASPM_HUMAN L3132R Polymorphism ASSY_HUMAN G390R Disease ASSY_HUMAN K310R Disease ASSY_HUMAN R108L Disease ASSY_HUMAN T389I Disease ASSY_HUMAN V269M Disease ASSY_HUMAN V69A Disease AT10A_HUMAN A1179T Polymorphism AT10A_HUMAN A784T Polymorphism AT10A_HUMAN I1188V Polymorphism AT10A_HUMAN R1298S Polymorphism AT10A_HUMAN W1172C Polymorphism AT10D_HUMAN V1240I Polymorphism AT11C_HUMAN C114W Polymorphism AT12A_HUMAN P866L Polymorphism AT1A2_HUMAN R689Q Disease AT1A2_HUMAN W887R Disease AT2A2_HUMAN A803T Disease AT2A2_HUMAN C268F Disease AT2A2_HUMAN C875G Disease AT2A2_HUMAN E412G Disease AT2A2_HUMAN G310V Disease AT2A2_HUMAN G769R Disease AT2A2_HUMAN L65S Disease AT2A2_HUMAN N767S Disease AT2A2_HUMAN P602L Disease AT2A2_HUMAN S186P Disease AT2A2_HUMAN S765L Disease AT2A2_HUMAN V843F Disease AT2B1_HUMAN M267R Polymorphism AT2C1_HUMAN A304T Disease AT2C1_HUMAN P201L Disease AT8A1_HUMAN T673M Polymorphism AT8B1_HUMAN G308V Disease ATCAY_HUMAN S301R Disease ATD3A_HUMAN G15D Polymorphism ATF6A_HUMAN A145P Polymorphism ATF6A_HUMAN M67L Polymorphism ATF6A_HUMAN P157S Polymorphism ATG4B_HUMAN Q354L Polymorphism ATL1_HUMAN S242N Polymorphism ATM_HUMAN A2726V Disease ATM_HUMAN A3006P Disease ATM_HUMAN C2824Y Disease ATM_HUMAN D1853N Polymorphism ATM_HUMAN D2625Q Disease ATM_HUMAN D3003N Polymorphism ATM_HUMAN E2139G Disease ATM_HUMAN E2164K Disease ATM_HUMAN F2732L Disease ATM_HUMAN F2827C Disease ATM_HUMAN G2287A Polymorphism ATM_HUMAN K3018N Disease ATM_HUMAN M1040V Disease ATM_HUMAN N750K Disease ATM_HUMAN P2829L Disease ATM_HUMAN R2486G Disease ATM_HUMAN T1953R Disease ATM_HUMAN T2438I Polymorphism ATM_HUMAN V2079I Polymorphism ATP4A_HUMAN A264V Polymorphism ATP6_HUMAN A11T Polymorphism ATP6_HUMAN A155T Polymorphism ATP6_HUMAN A177T Polymorphism ATP6_HUMAN A7T Polymorphism ATP6_HUMAN A80T Polymorphism ATP6_HUMAN F117L Polymorphism ATP6_HUMAN F193L Polymorphism ATP6_HUMAN H61Y Polymorphism ATP6_HUMAN H90Y Polymorphism ATP6_HUMAN I121V Polymorphism ATP6_HUMAN I14V Polymorphism ATP6_HUMAN I192T Disease ATP6_HUMAN I192V Polymorphism ATP6_HUMAN I204T Polymorphism ATP6_HUMAN M60T Polymorphism ATP6_HUMAN S182L Polymorphism ATP6_HUMAN T112A Polymorphism ATP6_HUMAN T133A Polymorphism ATP6_HUMAN T178A Polymorphism ATP6_HUMAN T33S Polymorphism ATP6_HUMAN T53I Polymorphism ATP6_HUMAN T59A Polymorphism ATP6_HUMAN V213I Polymorphism ATP7A_HUMAN A1007V Disease ATP7A_HUMAN A1325V Disease ATP7A_HUMAN A1362V Disease ATP7A_HUMAN A629P Disease ATP7A_HUMAN G1118D Disease ATP7A_HUMAN G860V Disease ATP7A_HUMAN I1345F Disease ATP7A_HUMAN L1100P Disease ATP7A_HUMAN Q924R Disease ATP7A_HUMAN R703H Polymorphism ATP7A_HUMAN S637L Disease ATP7A_HUMAN T669I Polymorphism ATP7A_HUMAN V767L Disease ATP7B_HUMAN A1003T Disease ATP7B_HUMAN A1003V Disease ATP7B_HUMAN A1018V Disease ATP7B_HUMAN A1063V Disease ATP7B_HUMAN A1168S Disease ATP7B_HUMAN A1183G Disease ATP7B_HUMAN A1183T Disease ATP7B_HUMAN C1104F Disease ATP7B_HUMAN D642H Disease ATP7B_HUMAN D765G Disease ATP7B_HUMAN D765N Disease ATP7B_HUMAN D918E Disease ATP7B_HUMAN D918N Disease ATP7B_HUMAN D96G Polymorphism ATP7B_HUMAN E1064A Disease ATP7B_HUMAN E1068G Disease ATP7B_HUMAN E1173K Disease ATP7B_HUMAN F1094L Disease ATP7B_HUMAN G1061E Disease ATP7B_HUMAN G1089E Disease ATP7B_HUMAN G1089V Disease ATP7B_HUMAN G1099S Disease ATP7B_HUMAN G1111D Disease ATP7B_HUMAN G1186S Disease ATP7B_HUMAN G626A Disease ATP7B_HUMAN G691R Disease ATP7B_HUMAN G710A Disease ATP7B_HUMAN G710S Disease ATP7B_HUMAN G891V Disease ATP7B_HUMAN G943D Disease ATP7B_HUMAN G943S Disease ATP7B_HUMAN H1207R Polymorphism ATP7B_HUMAN I1102T Disease ATP7B_HUMAN I1148T Disease ATP7B_HUMAN I1336T Disease ATP7B_HUMAN I390V Polymorphism ATP7B_HUMAN I747F Disease ATP7B_HUMAN I967F Disease ATP7B_HUMAN K832R Polymorphism ATP7B_HUMAN K952R Polymorphism ATP7B_HUMAN L1083F Disease ATP7B_HUMAN L1255I Disease ATP7B_HUMAN L1305P Disease ATP7B_HUMAN L1327V Disease ATP7B_HUMAN L466V Polymorphism ATP7B_HUMAN L641S Disease ATP7B_HUMAN L776V Polymorphism ATP7B_HUMAN M1169T Disease ATP7B_HUMAN M1169V Polymorphism ATP7B_HUMAN M645R Disease ATP7B_HUMAN M665I Disease ATP7B_HUMAN M769I Disease ATP7B_HUMAN M769V Disease ATP7B_HUMAN N565S Polymorphism ATP7B_HUMAN P1052L Disease ATP7B_HUMAN P1098R Disease ATP7B_HUMAN P1273L Disease ATP7B_HUMAN P690L Disease ATP7B_HUMAN P760L Disease ATP7B_HUMAN P840L Disease ATP7B_HUMAN Q1142H Disease ATP7B_HUMAN Q898R Disease ATP7B_HUMAN R1038K Disease ATP7B_HUMAN R1151H Disease ATP7B_HUMAN R616Q Disease ATP7B_HUMAN R723G Polymorphism ATP7B_HUMAN R778G Disease ATP7B_HUMAN R778L Disease ATP7B_HUMAN R778Q Disease ATP7B_HUMAN R875G Polymorphism ATP7B_HUMAN R969Q Disease ATP7B_HUMAN S406A Polymorphism ATP7B_HUMAN T1143N Polymorphism ATP7B_HUMAN T933P Disease ATP7B_HUMAN T935M Disease ATP7B_HUMAN V1106D Disease ATP7B_HUMAN V1109M Polymorphism ATP7B_HUMAN V1140A Polymorphism ATP7B_HUMAN V1146M Disease ATP7B_HUMAN V1216M Disease ATP7B_HUMAN V1239G Disease ATP7B_HUMAN V1297I Polymorphism ATP7B_HUMAN V446L Polymorphism ATP7B_HUMAN V456L Polymorphism ATP7B_HUMAN V864I Polymorphism ATP7B_HUMAN V949G Disease ATP7B_HUMAN V995A Polymorphism ATP7B_HUMAN W1153R Disease ATPO_HUMAN K98R Polymorphism ATRX_HUMAN C1614R Disease ATRX_HUMAN G740E Polymorphism ATRX_HUMAN H1609R Disease ATRX_HUMAN K1650N Disease ATRX_HUMAN L1645S Disease ATRX_HUMAN N1860S Polymorphism ATRX_HUMAN P596S Polymorphism ATRX_HUMAN Q929E Polymorphism ATRX_HUMAN R1742K Disease ATRX_HUMAN R2131Q Disease ATRX_HUMAN V1538G Disease ATRX_HUMAN Y2084H Disease ATS2_HUMAN V245I Polymorphism ATS4_HUMAN R626Q Polymorphism ATTY_HUMAN G362V Disease ATX7_HUMAN V862M Polymorphism AVR2B_HUMAN V494I Disease AXN1_HUMAN G425S Disease B3AT_HUMAN E90K Disease B3AT_HUMAN I442F Polymorphism B3AT_HUMAN K56E Polymorphism B3AT_HUMAN M586L Polymorphism B3AT_HUMAN P147S Disease B3AT_HUMAN P854L Polymorphism B3AT_HUMAN P868L Disease B3AT_HUMAN R112S Polymorphism B3AT_HUMAN R589S Disease B3AT_HUMAN V862I Polymorphism B3GT5_HUMAN M85T Polymorphism B4GT2_HUMAN Q122H Polymorphism B4GT4_HUMAN Q116E Polymorphism BAF2_HUMAN T78S Polymorphism BARD1_HUMAN C557S Polymorphism BARD1_HUMAN V507M Polymorphism BARX1_HUMAN T19A Polymorphism BAT1_HUMAN A126T Disease BAT1_HUMAN A182T Disease BAT1_HUMAN A224V Disease BAT1_HUMAN A331V Disease BAT1_HUMAN A354T Disease BAT1_HUMAN A382T Disease BAT1_HUMAN A70V Disease BAT1_HUMAN G105R Disease BAT1_HUMAN I187F Disease BAT1_HUMAN L223M Polymorphism BAT1_HUMAN P261L Disease BAT1_HUMAN S379R Disease BAT1_HUMAN V170M Disease BAT1_HUMAN V330M Disease BAT2_HUMAN D742E Polymorphism BAT2_HUMAN G1285A Polymorphism BAT2_HUMAN K544T Polymorphism BAT2_HUMAN P57R Polymorphism BAT3_HUMAN S625P Polymorphism BAT4_HUMAN A235V Polymorphism BAXA_HUMAN G67R Disease BBS4_HUMAN T354I Polymorphism BCA3_HUMAN K23R Polymorphism BCAT1_HUMAN E321K Polymorphism BCL2_HUMAN A43T Polymorphism BCL2_HUMAN P59S Disease BCL6_HUMAN A493T Polymorphism BCN1_HUMAN A103V Polymorphism BCS1_HUMAN S277N Disease BCS1_HUMAN V327A Disease BCS1_HUMAN V353M Disease BDNF_HUMAN Q75H Polymorphism BDNF_HUMAN T2I Disease BDNF_HUMAN V66M Polymorphism BFL1_HUMAN C19Y Polymorphism BGAL_HUMAN D491N Disease BGAL_HUMAN G438E Disease BGAL_HUMAN N266S Disease BGAL_HUMAN R148S Disease BGAL_HUMAN R457Q Disease BGAL_HUMAN R482H Disease BGAL_HUMAN R59H Disease BGAL_HUMAN T82M Disease BGAL_HUMAN V216A Disease BGAL_HUMAN V240M Disease BGAL_HUMAN Y83H Disease BGAT_HUMAN F216I Polymorphism BGAT_HUMAN P156L Polymorphism BGAT_HUMAN P74S Polymorphism BGAT_HUMAN R161H Polymorphism BGAT_HUMAN R199C Polymorphism BGAT_HUMAN R63H Polymorphism BGAT_HUMAN V36F Polymorphism BGH3_HUMAN I200F Polymorphism BGH3_HUMAN P501T Disease BGH3_HUMAN R124L Disease BGH3_HUMAN R555Q Disease BGLR_HUMAN A619V Disease BGLR_HUMAN P649L Polymorphism BGLR_HUMAN R382C Disease BHMT_HUMAN Q239R Polymorphism BID_HUMAN S10G Polymorphism BIEA_HUMAN A3T Polymorphism BIRC3_HUMAN K260R Polymorphism BIRC3_HUMAN R401K Polymorphism BIRC4_HUMAN D242E Polymorphism BIRC4_HUMAN N107S Polymorphism BIRC4_HUMAN Q423P Polymorphism BIRC4_HUMAN S133F Polymorphism BKRB1_HUMAN A250V Polymorphism BKRB2_HUMAN G354E Polymorphism BLMH_HUMAN I443V Polymorphism BLM_HUMAN C1055S Disease BLM_HUMAN C878R Disease BLM_HUMAN E1213K Polymorphism BLM_HUMAN P868L Polymorphism BLM_HUMAN S1209T Polymorphism BLM_HUMAN T843I Disease BLM_HUMAN V1205I Polymorphism BLVRB_HUMAN R45Q Polymorphism BMP2_HUMAN A106T Polymorphism BMP2_HUMAN S37A Polymorphism BMP4_HUMAN V152A Polymorphism BMP8B_HUMAN H293R Polymorphism BMPR2_HUMAN C420R Disease BMPR2_HUMAN E224D Polymorphism BMPR2_HUMAN K512T Disease BMPR2_HUMAN N519K Disease BMPR2_HUMAN S775N Polymorphism BMR1A_HUMAN M470T Disease BMR1B_HUMAN I200K Disease BORIS_HUMAN A177T Polymorphism BPI_HUMAN K212E Polymorphism BPI_HUMAN V12A Polymorphism BPL1_HUMAN G581S Disease BPL1_HUMAN N511K Disease BRAC_HUMAN G177D Polymorphism BRAC_HUMAN N369S Polymorphism BRAF1_HUMAN E586K Disease BRAF1_HUMAN F595L Disease BRAF1_HUMAN G469A Disease BRAF1_HUMAN K601E Disease BRAF1_HUMAN L597V Disease BRAF1_HUMAN R462I Disease BRAF1_HUMAN V600D Disease BRAF1_HUMAN V600E Disease BRCA1_HUMAN A1641P Disease BRCA1_HUMAN D749Y Disease BRCA1_HUMAN E1038G Polymorphism BRCA1_HUMAN F989S Polymorphism BRCA1_HUMAN G275S Polymorphism BRCA1_HUMAN G552V Disease BRCA1_HUMAN G960D Disease BRCA1_HUMAN H835Y Disease BRCA1_HUMAN H888Y Disease BRCA1_HUMAN K1183R Polymorphism BRCA1_HUMAN K820E Polymorphism BRCA1_HUMAN L892S Disease BRCA1_HUMAN M1008I Polymorphism BRCA1_HUMAN M1652I Polymorphism BRCA1_HUMAN N723D Polymorphism BRCA1_HUMAN P1150S Disease BRCA1_HUMAN P1812S Disease BRCA1_HUMAN P346S Disease BRCA1_HUMAN P871L Polymorphism BRCA1_HUMAN Q1200H Disease BRCA1_HUMAN R1204I Disease BRCA1_HUMAN R1243G Disease BRCA1_HUMAN R1443Q Polymorphism BRCA1_HUMAN S1040N Polymorphism BRCA1_HUMAN S1139I Disease BRCA1_HUMAN S1140G Polymorphism BRCA1_HUMAN S1613G Polymorphism BRCA1_HUMAN T1025I Disease BRCA1_HUMAN T1620A Polymorphism BRCA1_HUMAN T826K Disease BRCA1_HUMAN V1047A Disease BRCA1_HUMAN V772A Polymorphism BRCA1_HUMAN Y856H Disease BRCA2_HUMAN A2951T Polymorphism BRCA2_HUMAN C1290Y Polymorphism BRCA2_HUMAN C1580Y Disease BRCA2_HUMAN E1901K Disease BRCA2_HUMAN E2856A Polymorphism BRCA2_HUMAN G1771D Polymorphism BRCA2_HUMAN H372N Polymorphism BRCA2_HUMAN K2729N Disease BRCA2_HUMAN K3257R Polymorphism BRCA2_HUMAN K327E Disease BRCA2_HUMAN M3118T Disease BRCA2_HUMAN M784V Polymorphism BRCA2_HUMAN N2706S Polymorphism BRCA2_HUMAN N991D Polymorphism BRCA2_HUMAN Q2421H Disease BRCA2_HUMAN R2502H Disease BRCA2_HUMAN R2787H Disease BRCA2_HUMAN R448H Disease BRCA2_HUMAN S1179N Disease BRCA2_HUMAN S2835P Polymorphism BRCA2_HUMAN T1414M Polymorphism BRCA2_HUMAN T1679I Disease BRCA2_HUMAN T1915M Disease BRCA2_HUMAN T598A Polymorphism BRCA2_HUMAN V211A Disease BRCA2_HUMAN V2728I Polymorphism BRCA2_HUMAN Y2094C Disease BRCA2_HUMAN Y3098H Disease BRS3_HUMAN L162Q Polymorphism BRS3_HUMAN T53P Polymorphism BT1A1_HUMAN T213A Polymorphism BT3A1_HUMAN S224N Polymorphism BTBDC_HUMAN A538V Polymorphism BTBDC_HUMAN P439L Polymorphism BTD_HUMAN G431D Disease BTG1_HUMAN N139S Polymorphism BTK_HUMAN A621P Disease BTK_HUMAN D307E Disease BTK_HUMAN D520N Disease BTK_HUMAN F558S Disease BTK_HUMAN F643L Disease BTK_HUMAN G301E Disease BTK_HUMAN G301R Disease BTK_HUMAN G593E Disease BTK_HUMAN G593R Disease BTK_HUMAN G612D Disease BTK_HUMAN H361Q Disease BTK_HUMAN I369M Disease BTK_HUMAN L357F Disease BTK_HUMAN L368F Disease BTK_HUMAN L651P Disease BTK_HUMAN M508I Disease BTK_HUMAN M508V Disease BTK_HUMAN M586L Disease BTK_HUMAN M629I Polymorphism BTK_HUMAN M629T Disease BTK_HUMAN N364Y Disease BTK_HUMAN N525K Disease BTK_HUMAN P618S Disease BTK_HUMAN R287W Disease BTK_HUMAN R371G Disease BTK_HUMAN R524P Disease BTK_HUMAN R543K Disease BTK_HUMAN T183P Disease BTK_HUMAN T32P Disease BTK_HUMAN V318A Disease BTK_HUMAN Y417H Disease BTNL2_HUMAN K196E Polymorphism BTNL2_HUMAN S360G Polymorphism BUB1B_HUMAN M15T Disease BUB1B_HUMAN V618A Disease BUB1_HUMAN E36D Disease BZRP_HUMAN A147T Polymorphism BZRP_HUMAN H162R Polymorphism C11B1_HUMAN A348T Polymorphism C11B1_HUMAN C494F Polymorphism C11B1_HUMAN D63H Polymorphism C11B1_HUMAN F257L Polymorphism C11B1_HUMAN K173R Polymorphism C11B1_HUMAN L293V Polymorphism C11B1_HUMAN M160I Polymorphism C11B1_HUMAN N133H Disease C11B1_HUMAN P42S Disease C11B1_HUMAN Q43R Polymorphism C11B1_HUMAN R448H Disease C11B1_HUMAN S281N Polymorphism C11B1_HUMAN V386A Polymorphism C11B1_HUMAN Y439H Polymorphism C11B2_HUMAN A29T Polymorphism C11B2_HUMAN E198D Disease C11B2_HUMAN E383V Polymorphism C11B2_HUMAN G435S Polymorphism C11B2_HUMAN I248T Polymorphism C11B2_HUMAN I339T Polymorphism C11B2_HUMAN K173R Polymorphism C11B2_HUMAN N222T Polymorphism C11B2_HUMAN N281S Polymorphism C11B2_HUMAN R30Q Polymorphism C11B2_HUMAN T185I Disease C11B2_HUMAN T498A Disease C11B2_HUMAN V386A Disease C1QR1_HUMAN V318A Polymorphism C1R_HUMAN E184K Polymorphism C1R_HUMAN G261R Polymorphism C1R_HUMAN H163Y Polymorphism C1R_HUMAN S152L Polymorphism C1R_HUMAN Y131H Polymorphism C1S_HUMAN R383H Polymorphism C1TC_HUMAN R133K Polymorphism C1TC_HUMAN R652Q Polymorphism C2TA_HUMAN A500G Polymorphism C3AR_HUMAN V136A Polymorphism C4BB_HUMAN P198S Polymorphism C4BP_HUMAN Y357H Polymorphism CA037_HUMAN T80A Polymorphism CABC1_HUMAN H85Q Polymorphism CABP5_HUMAN V128A Polymorphism CABYR_HUMAN S490A Polymorphism CAC1A_HUMAN E918D Polymorphism CAC1A_HUMAN I1810L Disease CAC1A_HUMAN R192Q Disease CAC1A_HUMAN V627I Polymorphism CAC1C_HUMAN A2169T Polymorphism CAC1I_HUMAN I1040V Polymorphism CAC1S_HUMAN L458H Polymorphism CAC1S_HUMAN R1539C Polymorphism CAD12_HUMAN E86K Polymorphism CAD16_HUMAN H257Y Polymorphism CAD16_HUMAN L191F Polymorphism CAD23_HUMAN A1222T Polymorphism CAD23_HUMAN A366T Disease CAD23_HUMAN D1351N Polymorphism CAD23_HUMAN D2045N Disease CAD23_HUMAN D2202N Disease CAD23_HUMAN D990N Disease CAD23_HUMAN E2044K Polymorphism CAD23_HUMAN E2588Q Polymorphism CAD23_HUMAN G490A Polymorphism CAD23_HUMAN P2380L Polymorphism CAD23_HUMAN P3059T Disease CAD23_HUMAN Q1496H Disease CAD23_HUMAN R1507Q Disease CAD23_HUMAN R1746Q Disease CAD23_HUMAN R1804Q Polymorphism CAD23_HUMAN R2358Q Polymorphism CAD23_HUMAN S496N Polymorphism CAD23_HUMAN T1209A Disease CAD23_HUMAN T1575A Polymorphism CAD23_HUMAN T1671S Polymorphism CAD23_HUMAN T1999S Polymorphism CAD23_HUMAN V1675I Polymorphism CADH1_HUMAN A592T Disease CADH1_HUMAN A617T Disease CADH1_HUMAN D244G Disease CADH1_HUMAN E336D Polymorphism CADH1_HUMAN E463Q Disease CADH1_HUMAN H123Y Disease CADH1_HUMAN L478P Polymorphism CADH1_HUMAN L630V Polymorphism CADH1_HUMAN L711V Disease CADH1_HUMAN N315S Disease CADH1_HUMAN R598Q Disease CADH1_HUMAN S838G Disease CADH1_HUMAN T340A Disease CADH1_HUMAN T470I Polymorphism CADH1_HUMAN V473D Disease CADH1_HUMAN V487A Disease CADH3_HUMAN R503H Disease CAH2_HUMAN G143R Disease CAH2_HUMAN H93Y Disease CAH2_HUMAN N251D Polymorphism CAH3_HUMAN I30V Polymorphism CAH9_HUMAN Q326R Polymorphism CAH9_HUMAN V33M Polymorphism CALC_HUMAN D57N Polymorphism CALC_HUMAN S76R Polymorphism CALU_HUMAN R4Q Polymorphism CAN10_HUMAN A341V Polymorphism CAN1_HUMAN R433P Polymorphism CAN1_HUMAN T103A Polymorphism CAN1_HUMAN V676I Polymorphism CAN2_HUMAN E21D Polymorphism CAN2_HUMAN E520Q Polymorphism CAN2_HUMAN K475R Polymorphism CAN2_HUMAN K567Q Polymorphism CAN2_HUMAN K676Q Polymorphism CAN2_HUMAN S67G Polymorphism CAN3_HUMAN A236T Polymorphism CAN3_HUMAN A702V Disease CAN3_HUMAN A798E Disease CAN3_HUMAN E107K Polymorphism CAN3_HUMAN G214S Disease CAN3_HUMAN G441D Disease CAN3_HUMAN G496R Disease CAN3_HUMAN H774D Disease CAN3_HUMAN L189P Disease CAN3_HUMAN P319L Disease CAN3_HUMAN R118G Disease CAN3_HUMAN R448H Disease CAN3_HUMAN R489W Disease CAN3_HUMAN R490Q Disease CAN3_HUMAN R493W Disease CAN3_HUMAN R541Q Disease CAN3_HUMAN R748Q Disease CAN3_HUMAN S479G Disease CAN3_HUMAN S606L Disease CAN3_HUMAN S744G Disease CAN3_HUMAN T184M Disease CAN6_HUMAN V277L Polymorphism CAN9_HUMAN A102V Polymorphism CAN9_HUMAN A239T Polymorphism CAN9_HUMAN D164N Polymorphism CAN9_HUMAN E342K Polymorphism CAN9_HUMAN H327Q Polymorphism CAN9_HUMAN I234T Polymorphism CAN9_HUMAN K322Q Polymorphism CAN9_HUMAN M611I Polymorphism CAN9_HUMAN R277W Polymorphism CAR14_HUMAN R883H Polymorphism CAR15_HUMAN A140T Disease CAR15_HUMAN A432V Disease CAR15_HUMAN A755V Disease CAR15_HUMAN A758V Disease CAR15_HUMAN A885T Disease CAR15_HUMAN A918D Disease CAR15_HUMAN D382E Disease CAR15_HUMAN E383K Disease CAR15_HUMAN E441K Disease CAR15_HUMAN E778K Disease CAR15_HUMAN E843K Disease CAR15_HUMAN G908R Disease CAR15_HUMAN G924D Disease CAR15_HUMAN H496L Disease CAR15_HUMAN M863V Disease CAR15_HUMAN N289S Polymorphism CAR15_HUMAN N414S Disease CAR15_HUMAN N853S Disease CAR15_HUMAN S431L Disease CAR15_HUMAN V793M Disease CAR15_HUMAN W157R Disease CART_HUMAN S66T Polymorphism CASP6_HUMAN A109T Polymorphism CASP6_HUMAN T182S Polymorphism CASP8_HUMAN D285H Polymorphism CASP9_HUMAN E114D Polymorphism CASP9_HUMAN G176R Polymorphism CASP9_HUMAN I185M Polymorphism CASP9_HUMAN L106V Polymorphism CASP9_HUMAN Q221R Polymorphism CASP9_HUMAN R173H Polymorphism CASP9_HUMAN S99L Polymorphism CASP9_HUMAN T102I Polymorphism CASPA_HUMAN L285F Disease CASPA_HUMAN V410I Polymorphism CASQ2_HUMAN T66A Polymorphism CASR_HUMAN A116T Disease CASR_HUMAN E297K Disease CASR_HUMAN F806S Disease CASR_HUMAN G143E Disease CASR_HUMAN G557E Disease CASR_HUMAN L616V Disease CASR_HUMAN P39A Disease CASR_HUMAN Q681H Disease CASR_HUMAN R185Q Disease CASR_HUMAN R227L Disease CASR_HUMAN R227Q Disease CATB_HUMAN L26V Polymorphism CATB_HUMAN S235N Polymorphism CATC_HUMAN E319G Disease CATC_HUMAN E401K Polymorphism CATC_HUMAN E447G Disease CATC_HUMAN G300S Disease CATC_HUMAN I453V Polymorphism CATC_HUMAN Q312R Disease CATC_HUMAN R272H Disease CATC_HUMAN T153I Polymorphism CATC_HUMAN Y304N Disease CATC_HUMAN Y340C Disease CATD_HUMAN A58V Polymorphism CATE_HUMAN T329I Polymorphism CATG_HUMAN N125S Polymorphism CATK_HUMAN A277V Disease CATZ_HUMAN P36S Polymorphism CBG_HUMAN D389N Disease CBG_HUMAN L115H Disease CBPA4_HUMAN G303C Polymorphism CBPA4_HUMAN P157T Polymorphism CBPA5_HUMAN E338D Polymorphism CBPA5_HUMAN L336S Polymorphism CBPA5_HUMAN P79S Polymorphism CBPB2_HUMAN T347I Polymorphism CBS_HUMAN A113V Disease CBS_HUMAN A154T Disease CBS_HUMAN A225T Disease CBS_HUMAN D197V Disease CBS_HUMAN D233N Disease CBS_HUMAN E127D Disease CBS_HUMAN E175K Disease CBS_HUMAN E301K Disease CBS_HUMAN G115R Disease CBS_HUMAN G306S Disease CBS_HUMAN I151M Disease CBS_HUMAN I277T Disease CBS_HUMAN I434T Disease CBS_HUMAN K101N Disease CBS_HUMAN K101Q Disease CBS_HUMAN K383E Disease CBS_HUMAN L100P Disease CBS_HUMAN M125V Disease CBS_HUMAN M390I Disease CBS_HUMAN P289L Disease CBS_HUMAN P421L Disease CBS_HUMAN P77R Disease CBS_HUMAN P87S Disease CBS_HUMAN R124Q Disease CBS_HUMAN R124W Disease CBS_HUMAN R223H Disease CBS_HUMAN R265G Disease CBS_HUMAN R265K Disease CBS_HUMAN R335H Disease CBS_HUMAN R368H Disease CBS_HUMAN R378Q Disease CBS_HUMAN R438Q Disease CBS_HUMAN S465L Disease CBS_HUMAN T261M Disease CBS_HUMAN T433N Disease CBS_HUMAN V179A Disease CBS_HUMAN V319A Disease CBS_HUMAN V353M Disease CBS_HUMAN V453E Disease CBX8_HUMAN G317V Polymorphism CC14A_HUMAN R345Q Polymorphism CC45L_HUMAN V81I Polymorphism CCHCR_HUMAN E275D Polymorphism CCKN_HUMAN G32E Polymorphism CCL11_HUMAN A23T Polymorphism CCL15_HUMAN I24T Polymorphism CCL23_HUMAN M106V Polymorphism CCL27_HUMAN I78V Polymorphism CCL8_HUMAN K69Q Polymorphism CCM2_HUMAN V120I Polymorphism CCM2_HUMAN V53I Polymorphism CCNA2_HUMAN V163I Polymorphism CCNB2_HUMAN M100T Polymorphism CCND3_HUMAN P134S Polymorphism CCND3_HUMAN S259A Polymorphism CCNE2_HUMAN N387S Polymorphism CCNG1_HUMAN F179L Polymorphism CCNG1_HUMAN N178H Polymorphism CCNH_HUMAN V270A Polymorphism CCNI_HUMAN V207I Polymorphism CCR2_HUMAN L45V Polymorphism CCR2_HUMAN V64I Polymorphism CCR3_HUMAN C218S Polymorphism CCR3_HUMAN G21D Polymorphism CCR4_HUMAN C178S Polymorphism CCR4_HUMAN L130V Polymorphism CCR5_HUMAN A29S Polymorphism CCR5_HUMAN A335V Polymorphism CCR5_HUMAN A73V Polymorphism CCR5_HUMAN C20S Polymorphism CCR5_HUMAN I12L Polymorphism CCR5_HUMAN I42F Polymorphism CCR5_HUMAN R223Q Polymorphism CCR5_HUMAN R60S Polymorphism CCR5_HUMAN S215L Polymorphism CCR5_HUMAN Y339F Polymorphism CCR9_HUMAN M272V Polymorphism CD008_HUMAN M192V Polymorphism CD151_HUMAN R132K Polymorphism CD151_HUMAN S137P Polymorphism CD166_HUMAN M301T Polymorphism CD166_HUMAN N258S Polymorphism CD180_HUMAN N53K Polymorphism CD1A_HUMAN I30T Polymorphism CD1D_HUMAN T64S Polymorphism CD1E_HUMAN Q96R Polymorphism CD1E_HUMAN R154W Polymorphism CD226_HUMAN G307S Polymorphism CD22_HUMAN A34T Polymorphism CD22_HUMAN E203K Polymorphism CD22_HUMAN S664G Polymorphism CD22_HUMAN Y639H Polymorphism CD2A1_HUMAN A57V Disease CD2A1_HUMAN E119Q Disease CD2A1_HUMAN E120K Disease CD2A1_HUMAN E33D Disease CD2A1_HUMAN G35A Disease CD2A1_HUMAN H66Y Disease CD2A1_HUMAN R107C Disease CD2A1_HUMAN R124H Disease CD2A1_HUMAN R80L Disease CD2A1_HUMAN R99Q Disease CD2A1_HUMAN V95A Disease CD2_HUMAN Q266H Polymorphism CD2L5_HUMAN R700L Polymorphism CD36_HUMAN F253L Disease CD36_HUMAN I412L Disease CD44_HUMAN R417K Polymorphism CD4_HUMAN K191E Polymorphism CD68_HUMAN A340T Polymorphism CD68_HUMAN K254Q Polymorphism CD8A_HUMAN G111S Disease CD97_HUMAN Q367R Polymorphism CDC6_HUMAN D295N Polymorphism CDC6_HUMAN V441I Polymorphism CDC7_HUMAN F162L Polymorphism CDC7_HUMAN I99V Polymorphism CDC7_HUMAN K441R Polymorphism CDC7_HUMAN Q23P Polymorphism CDD_HUMAN K27Q Polymorphism CDK2_HUMAN T290S Polymorphism CDK2_HUMAN Y15S Polymorphism CDK3_HUMAN M264T Polymorphism CDK3_HUMAN T226I Polymorphism CDK4_HUMAN N41S Disease CDK4_HUMAN R24H Disease CDK7_HUMAN G163A Polymorphism CDK9_HUMAN G231A Polymorphism CDKL1_HUMAN K341N Polymorphism CDKL1_HUMAN L329V Polymorphism CDKL1_HUMAN Q274E Polymorphism CDKN3_HUMAN F78L Disease CDKN3_HUMAN I108V Disease CDKN3_HUMAN L95F Disease CDN1A_HUMAN S30R Polymorphism CDSN_HUMAN S408A Polymorphism CDX1_HUMAN P130R Polymorphism CEAM3_HUMAN S7P Polymorphism CEAM8_HUMAN R114K Polymorphism CELR1_HUMAN C1126R Polymorphism CELR1_HUMAN S664W Polymorphism CELR3_HUMAN S805T Polymorphism CEP2_HUMAN R1441Q Polymorphism CEP68_HUMAN G74S Polymorphism CEP70_HUMAN S135N Polymorphism CER1_HUMAN A65G Polymorphism CER1_HUMAN V179I Polymorphism CETP_HUMAN G331S Polymorphism CETP_HUMAN R468Q Polymorphism CETP_HUMAN V385M Polymorphism CETP_HUMAN V422I Polymorphism CF010_HUMAN P128L Polymorphism CF010_HUMAN S170P Polymorphism CF010_HUMAN S227P Polymorphism CF010_HUMAN Y36H Polymorphism CF010_HUMAN Y69C Polymorphism CF015_HUMAN E165K Polymorphism CF015_HUMAN P83A Polymorphism CF047_HUMAN R68G Polymorphism CF118_HUMAN I256M Polymorphism CF118_HUMAN V363L Polymorphism CF142_HUMAN T320S Polymorphism CF152_HUMAN L24S Polymorphism CFAB_HUMAN A736S Polymorphism CFAB_HUMAN D651E Polymorphism CFAB_HUMAN G252S Polymorphism CFAB_HUMAN K565E Polymorphism CFAB_HUMAN R32Q Polymorphism CFAH_HUMAN E936D Polymorphism CFAH_HUMAN H402Y Polymorphism CFAH_HUMAN I63V Polymorphism CFAH_HUMAN S1191L Disease CFTR_HUMAN A1067T Disease CFTR_HUMAN A1067V Polymorphism CFTR_HUMAN A120T Disease CFTR_HUMAN A559T Disease CFTR_HUMAN A613T Disease CFTR_HUMAN A800G Disease CFTR_HUMAN C866Y Disease CFTR_HUMAN D110H Disease CFTR_HUMAN D1152H Disease CFTR_HUMAN D1270N Disease CFTR_HUMAN D44G Disease CFTR_HUMAN D513G Disease CFTR_HUMAN D614G Disease CFTR_HUMAN D648V Disease CFTR_HUMAN D651N Disease CFTR_HUMAN E193K Disease CFTR_HUMAN E504Q Disease CFTR_HUMAN E822K Disease CFTR_HUMAN F1052V Disease CFTR_HUMAN F311L Disease CFTR_HUMAN F693L Polymorphism CFTR_HUMAN F87L Disease CFTR_HUMAN G149R Disease CFTR_HUMAN G314E Disease CFTR_HUMAN G314R Disease CFTR_HUMAN G576A Polymorphism CFTR_HUMAN G91R Disease CFTR_HUMAN H1085R Disease CFTR_HUMAN H139R Disease CFTR_HUMAN H199Q Disease CFTR_HUMAN H199Y Disease CFTR_HUMAN H620Q Disease CFTR_HUMAN H949Y Disease CFTR_HUMAN I105S Disease CFTR_HUMAN I1234V Disease CFTR_HUMAN I148T Disease CFTR_HUMAN I506M Polymorphism CFTR_HUMAN I506V Polymorphism CFTR_HUMAN I507V Polymorphism CFTR_HUMAN I601F Disease CFTR_HUMAN I618T Disease CFTR_HUMAN L346P Disease CFTR_HUMAN L467F Polymorphism CFTR_HUMAN L997F Disease CFTR_HUMAN M1028I Disease CFTR_HUMAN M1137V Disease CFTR_HUMAN M244K Disease CFTR_HUMAN M470V Polymorphism CFTR_HUMAN M952I Disease CFTR_HUMAN N287Y Disease CFTR_HUMAN P1013L Disease CFTR_HUMAN P111L Disease CFTR_HUMAN P205S Disease CFTR_HUMAN P67L Disease CFTR_HUMAN Q353H Polymorphism CFTR_HUMAN Q359K Disease CFTR_HUMAN Q98R Disease CFTR_HUMAN R1066H Disease CFTR_HUMAN R1070Q Disease CFTR_HUMAN R1070W Disease CFTR_HUMAN R1162L Polymorphism CFTR_HUMAN R117H Disease CFTR_HUMAN R117L Disease CFTR_HUMAN R117P Disease CFTR_HUMAN R170H Polymorphism CFTR_HUMAN R258G Disease CFTR_HUMAN R297Q Disease CFTR_HUMAN R31C Polymorphism CFTR_HUMAN R31L Disease CFTR_HUMAN R347H Disease CFTR_HUMAN R347L Disease CFTR_HUMAN R347P Disease CFTR_HUMAN R352Q Disease CFTR_HUMAN R553Q Disease CFTR_HUMAN R74W Disease CFTR_HUMAN R75Q Polymorphism CFTR_HUMAN S1235R Disease CFTR_HUMAN S182G Polymorphism CFTR_HUMAN S307N Disease CFTR_HUMAN S42F Disease CFTR_HUMAN S50Y Disease CFTR_HUMAN S654G Polymorphism CFTR_HUMAN S909I Polymorphism CFTR_HUMAN S912L Polymorphism CFTR_HUMAN T1220I Polymorphism CFTR_HUMAN T338I Disease CFTR_HUMAN T351S Polymorphism CFTR_HUMAN T665S Disease CFTR_HUMAN V322M Polymorphism CFTR_HUMAN V456F Disease CFTR_HUMAN V562I Polymorphism CFTR_HUMAN V562L Disease CFTR_HUMAN V754M Disease CFTR_HUMAN W57G Disease CFTR_HUMAN Y109C Disease CFTR_HUMAN Y301C Disease CFTR_HUMAN Y903H Polymorphism CG031_HUMAN S187T Polymorphism CG031_HUMAN Y82C Polymorphism CG69_HUMAN L247F Polymorphism CGHB_HUMAN D137A Polymorphism CGHB_HUMAN F4L Polymorphism CGHB_HUMAN K22R Polymorphism CGHB_HUMAN N97D Polymorphism CGHB_HUMAN R28W Polymorphism CGHB_HUMAN R30H Polymorphism CGHB_HUMAN T18A Polymorphism CGHB_HUMAN T35I Polymorphism CGL_HUMAN S403I Polymorphism CH3L1_HUMAN R145G Polymorphism CH3L1_HUMAN T311I Polymorphism CHD6_HUMAN H2161Q Polymorphism CHD7_HUMAN I266V Disease CHDH_HUMAN E40A Polymorphism CHIO_HUMAN H204R Polymorphism CHIT1_HUMAN G102S Polymorphism CHK1_HUMAN R156Q Polymorphism CHK2_HUMAN E239K Disease CHK2_HUMAN E501K Polymorphism CHK2_HUMAN F447I Polymorphism CHK2_HUMAN I251F Disease CHK2_HUMAN I448S Polymorphism CHK2_HUMAN L436M Polymorphism CHK2_HUMAN L512V Polymorphism CHK2_HUMAN N446K Polymorphism CHK2_HUMAN R180C Disease CHK2_HUMAN R180H Disease CHK2_HUMAN R181C Disease CHK2_HUMAN R318H Disease CHK2_HUMAN T476K Disease CHK2_HUMAN Y327C Disease CHLE_HUMAN A567T Polymorphism CHLE_HUMAN D98G Polymorphism CHM4A_HUMAN R153G Polymorphism CHRC1_HUMAN C55Y Polymorphism CHRD_HUMAN L630M Polymorphism CHSS1_HUMAN P359S Polymorphism CHSS3_HUMAN D764G Polymorphism CHST3_HUMAN I348M Polymorphism CHST3_HUMAN R357Q Polymorphism CHST6_HUMAN A128V Disease CHST6_HUMAN D221E Disease CHST6_HUMAN D221Y Disease CHST6_HUMAN R162G Disease CHST6_HUMAN R93H Disease CHSTC_HUMAN T61S Polymorphism CHSTD_HUMAN A271E Polymorphism CHSTD_HUMAN A271G Polymorphism CHSTD_HUMAN R317Q Polymorphism CI079_HUMAN D1202G Polymorphism CI079_HUMAN D682E Polymorphism CI079_HUMAN R1350H Polymorphism CI079_HUMAN T335P Polymorphism CI093_HUMAN I17N Polymorphism CI093_HUMAN K1069R Polymorphism CI126_HUMAN T37A Polymorphism CI138_HUMAN P63S Polymorphism CIAS1_HUMAN A439T Disease CIAS1_HUMAN A439V Disease CIAS1_HUMAN E627G Disease CIAS1_HUMAN F573S Disease CIAS1_HUMAN H358R Disease CIAS1_HUMAN L305P Disease CIAS1_HUMAN T436N Disease CIAS1_HUMAN V198M Disease CIAS1_HUMAN Y859C Disease CILP1_HUMAN L59W Polymorphism CILP1_HUMAN R979Q Polymorphism CJ003_HUMAN L378H Polymorphism CJ006_HUMAN S541Y Polymorphism CJ047_HUMAN A412V Polymorphism CJ092_HUMAN A492T Polymorphism CJ092_HUMAN S701G Polymorphism CJ118_HUMAN R179Q Polymorphism CK5P2_HUMAN E289Q Polymorphism CLAT_HUMAN A392G Polymorphism CLAT_HUMAN I305T Disease CLAT_HUMAN P211A Disease CLAT_HUMAN R420C Disease CLAT_HUMAN S498L Disease CLAT_HUMAN V506L Disease CLC10_HUMAN C35R Polymorphism CLC3A_HUMAN Q197K Polymorphism CLC4A_HUMAN H36L Polymorphism CLCKA_HUMAN A447T Polymorphism CLCKA_HUMAN R83G Polymorphism CLCKA_HUMAN Y315F Polymorphism CLCKB_HUMAN A204T Disease CLCKB_HUMAN T562M Polymorphism CLCKB_HUMAN V334L Polymorphism CLCN1_HUMAN A313T Disease CLCN1_HUMAN A415V Disease CLCN1_HUMAN A437T Polymorphism CLCN1_HUMAN F161V Disease CLCN1_HUMAN F167L Disease CLCN1_HUMAN F307S Disease CLCN1_HUMAN F708L Disease CLCN1_HUMAN G200R Disease CLCN1_HUMAN I290M Disease CLCN1_HUMAN M485V Disease CLCN1_HUMAN R300Q Polymorphism CLCN1_HUMAN R317Q Disease CLCN1_HUMAN R338Q Disease CLCN1_HUMAN R496S Disease CLCN1_HUMAN V165G Disease CLCN1_HUMAN V327I Disease CLCN1_HUMAN V563I Disease CLCN2_HUMAN G715E Disease CLCN5_HUMAN G57V Disease CLCN5_HUMAN R280P Disease CLCN7_HUMAN L490F Disease CLCN7_HUMAN L766P Disease CLCN7_HUMAN M332V Disease CLCN7_HUMAN R762Q Disease CLCN7_HUMAN R767Q Disease CLCN7_HUMAN V418M Polymorphism CLD14_HUMAN T4M Polymorphism CLD6_HUMAN V143I Polymorphism CLD7_HUMAN A197V Polymorphism CLD8_HUMAN S151P Polymorphism CLN5_HUMAN K368R Polymorphism CLN6_HUMAN E72Q Disease CLN8_HUMAN V155A Polymorphism CLUS_HUMAN D328N Polymorphism CLUS_HUMAN S396L Polymorphism CM018_HUMAN G152R Polymorphism CN029_HUMAN F334L Polymorphism CN103_HUMAN Q214E Polymorphism CN159_HUMAN D502N Polymorphism CN159_HUMAN R10C Polymorphism CNGA1_HUMAN S316F Disease CNGA3_HUMAN E198K Polymorphism CNGA3_HUMAN F547L Disease CNGA3_HUMAN G557R Disease CNGA3_HUMAN R283Q Disease CNGA3_HUMAN R410W Disease CNGA3_HUMAN V529M Disease CNGB3_HUMAN T298P Polymorphism CNTN1_HUMAN V798L Polymorphism CNTN2_HUMAN A145T Polymorphism CNTN3_HUMAN S630N Polymorphism CNTN5_HUMAN I530V Polymorphism CNTN5_HUMAN L70R Polymorphism CNTN5_HUMAN N81S Polymorphism CNTN5_HUMAN S23A Polymorphism CNTN5_HUMAN Y1065F Polymorphism CNTN6_HUMAN A440S Polymorphism CO1A1_HUMAN A1075T Polymorphism CO1A1_HUMAN G1058S Disease CO1A1_HUMAN R564H Polymorphism CO1A1_HUMAN T1434S Polymorphism CO1A2_HUMAN E1189D Polymorphism CO1A2_HUMAN F1022L Polymorphism CO1A2_HUMAN N249I Polymorphism CO1A2_HUMAN P1101L Polymorphism CO1A2_HUMAN P1198S Polymorphism CO1A2_HUMAN T276A Polymorphism CO2A1_HUMAN L89P Polymorphism CO2A1_HUMAN T1370M Disease CO2A1_HUMAN V1262I Polymorphism CO2_HUMAN E318D Polymorphism CO2_HUMAN F533L Polymorphism CO3_HUMAN D549N Disease CO3_HUMAN E469D Polymorphism CO3_HUMAN G1224D Polymorphism CO3_HUMAN I1367T Polymorphism CO3_HUMAN L314P Polymorphism CO3_HUMAN R102G Polymorphism CO3_HUMAN R1320Q Disease CO3_HUMAN R863K Polymorphism CO4A3_HUMAN D1269E Polymorphism CO4A3_HUMAN D1347E Disease CO4A3_HUMAN D326Y Polymorphism CO4A3_HUMAN G1334E Disease CO4A3_HUMAN G162E Polymorphism CO4A3_HUMAN H451R Polymorphism CO4A3_HUMAN L574P Polymorphism CO4A3_HUMAN Q1495R Polymorphism CO4A3_HUMAN R1215Q Disease CO4A3_HUMAN R408H Polymorphism CO4A4_HUMAN A931T Polymorphism CO4A4_HUMAN L1004P Polymorphism CO4A5_HUMAN L1428M Polymorphism CO4A6_HUMAN N1110K Polymorphism CO4A_HUMAN A907T Polymorphism CO4A_HUMAN D1073G Polymorphism CO4A_HUMAN D727N Polymorphism CO4A_HUMAN L1210R Polymorphism CO4A_HUMAN N1176S Polymorphism CO4A_HUMAN P726L Polymorphism CO4A_HUMAN R477W Polymorphism CO4A_HUMAN S1201T Polymorphism CO4A_HUMAN S1286A Polymorphism CO4A_HUMAN V1207A Polymorphism CO4B_HUMAN A907T Polymorphism CO4B_HUMAN D1073G Polymorphism CO4B_HUMAN L1210R Polymorphism CO4B_HUMAN N1176S Polymorphism CO4B_HUMAN S1201T Polymorphism CO4B_HUMAN S1286A Polymorphism CO4B_HUMAN V1207A Polymorphism CO5A1_HUMAN G530S Disease CO5A3_HUMAN R134H Polymorphism CO5A3_HUMAN V1691I Polymorphism CO5_HUMAN E1437D Polymorphism CO5_HUMAN F518S Polymorphism CO5_HUMAN I389T Polymorphism CO5_HUMAN I802V Polymorphism CO5_HUMAN M1053L Polymorphism CO5_HUMAN S1310N Polymorphism CO6A1_HUMAN K121R Disease CO6_HUMAN E119A Polymorphism CO7A1_HUMAN G1703E Disease CO7A1_HUMAN G1791E Disease CO7A1_HUMAN G2006A Disease CO7A1_HUMAN G2006D Disease CO7A1_HUMAN G2015E Disease CO7A1_HUMAN G2040V Disease CO7A1_HUMAN G2046V Disease CO7A1_HUMAN G2049E Disease CO7A1_HUMAN G2055E Disease CO7A1_HUMAN G2064R Disease CO7A1_HUMAN G2073D Disease CO7A1_HUMAN G2076D Disease CO7A1_HUMAN G2079E Disease CO7A1_HUMAN G2079R Disease CO7A1_HUMAN G2316R Disease CO7A1_HUMAN K142R Disease CO7A1_HUMAN P595L Disease CO7A1_HUMAN R2008G Disease CO7_HUMAN R220Q Disease CO8A2_HUMAN T645I Polymorphism CO8A_HUMAN E561Q Polymorphism CO8A_HUMAN Q93K Polymorphism CO8A_HUMAN T407I Polymorphism CO8B_HUMAN R117G Polymorphism CO9A1_HUMAN K870R Polymorphism CO9A1_HUMAN L882V Polymorphism CO9A2_HUMAN Q326R Polymorphism CO9A2_HUMAN V581I Polymorphism COAA1_HUMAN M27T Polymorphism COAA1_HUMAN N617K Disease COBA2_HUMAN D593G Polymorphism COBA2_HUMAN E824K Polymorphism COBA2_HUMAN G661R Disease COBA2_HUMAN R1600Q Polymorphism COCH_HUMAN D281N Polymorphism COCH_HUMAN P532S Polymorphism COCH_HUMAN T352S Polymorphism COHA1_HUMAN I231M Polymorphism COHA1_HUMAN S428G Polymorphism COHA1_HUMAN T210M Polymorphism COIA1_HUMAN V841I Polymorphism COLI_HUMAN E214G Polymorphism COLI_HUMAN S9L Polymorphism COMD5_HUMAN A6T Polymorphism COMP_HUMAN D290N Disease COMP_HUMAN D50E Polymorphism COMP_HUMAN G109A Polymorphism COMP_HUMAN G224R Polymorphism COMP_HUMAN P285R Polymorphism COMP_HUMAN R256G Polymorphism COMP_HUMAN R256P Polymorphism COMP_HUMAN W51L Polymorphism COMT_HUMAN A102T Polymorphism COMT_HUMAN A146V Polymorphism COMT_HUMAN C34S Polymorphism COMT_HUMAN V158M Polymorphism COPD_HUMAN F186L Polymorphism COPD_HUMAN K309N Polymorphism COQ3_HUMAN G272S Polymorphism COQ3_HUMAN H329Y Polymorphism COQ6_HUMAN V406M Polymorphism COR1A_HUMAN R415K Polymorphism COX1_HUMAN G224A Polymorphism COX1_HUMAN T415A Polymorphism COX1_HUMAN V155L Polymorphism COX2_HUMAN A148T Polymorphism COX2_HUMAN I30V Polymorphism COX2_HUMAN T187M Polymorphism COX2_HUMAN V142M Disease COX3_HUMAN A200T Disease COX3_HUMAN G78S Disease COX3_HUMAN H3R Polymorphism COX3_HUMAN V254I Polymorphism COX3_HUMAN V91I Polymorphism CP11A_HUMAN A189V Disease CP11A_HUMAN E314K Polymorphism CP17A_HUMAN D116V Disease CP17A_HUMAN F114V Disease CP17A_HUMAN F93C Disease CP17A_HUMAN N177D Disease CP17A_HUMAN P35L Disease CP17A_HUMAN P428L Disease CP17A_HUMAN R347H Disease CP17A_HUMAN R358Q Disease CP17A_HUMAN R440H Disease CP17A_HUMAN S106P Disease CP17A_HUMAN Y64S Disease CP19A_HUMAN R263C Polymorphism CP19A_HUMAN T200M Polymorphism CP19A_HUMAN W38R Polymorphism CP1A1_HUMAN I286T Polymorphism CP1A1_HUMAN I462V Polymorphism CP1A1_HUMAN I78T Polymorphism CP1A1_HUMAN M331I Polymorphism CP1A1_HUMAN R464S Polymorphism CP1A1_HUMAN T461N Polymorphism CP1A2_HUMAN C405Y Polymorphism CP1A2_HUMAN D347N Polymorphism CP1A2_HUMAN E167Q Polymorphism CP1A2_HUMAN F185L Polymorphism CP1A2_HUMAN F20L Polymorphism CP1A2_HUMAN G298S Polymorphism CP1A2_HUMAN I385F Polymorphism CP1A2_HUMAN S211C Polymorphism CP1A2_HUMAN T437I Polymorphism CP1A2_HUMAN T82M Polymorphism CP1B1_HUMAN A119S Polymorphism CP1B1_HUMAN A443G Polymorphism CP1B1_HUMAN D374N Disease CP1B1_HUMAN L432V Polymorphism CP1B1_HUMAN N453S Polymorphism CP1B1_HUMAN P379L Polymorphism CP1B1_HUMAN R266L Polymorphism CP1B1_HUMAN R368H Disease CP1B1_HUMAN S206N Polymorphism CP21A_HUMAN A362V Disease CP21A_HUMAN C169Y Disease CP21A_HUMAN D183E Polymorphism CP21A_HUMAN G291R Disease CP21A_HUMAN K102R Polymorphism CP21A_HUMAN K98R Polymorphism CP21A_HUMAN M239K Disease CP21A_HUMAN N493S Polymorphism CP21A_HUMAN P105L Disease CP21A_HUMAN P30L Disease CP21A_HUMAN P453S Disease CP21A_HUMAN R339H Disease CP21A_HUMAN R356P Disease CP21A_HUMAN R356W Disease CP21A_HUMAN R483Q Disease CP21A_HUMAN S268T Polymorphism CP21A_HUMAN S301Y Disease CP21A_HUMAN V237E Disease CP21A_HUMAN V281L Disease CP26C_HUMAN R245Q Polymorphism CP27A_HUMAN R405Q Disease CP27B_HUMAN V166L Polymorphism CP2A6_HUMAN E419D Polymorphism CP2A6_HUMAN G479V Polymorphism CP2A6_HUMAN H160L Polymorphism CP2A6_HUMAN I471T Polymorphism CP2A6_HUMAN K194E Polymorphism CP2A6_HUMAN R203S Polymorphism CP2A6_HUMAN R485L Polymorphism CP2A6_HUMAN S29N Polymorphism CP2AD_HUMAN D158E Polymorphism CP2AD_HUMAN R25Q Polymorphism CP2AD_HUMAN V323L Polymorphism CP2B6_HUMAN G99E Polymorphism CP2B6_HUMAN I391N Polymorphism CP2B6_HUMAN K139E Polymorphism CP2B6_HUMAN K262R Polymorphism CP2B6_HUMAN M46V Polymorphism CP2B6_HUMAN P167A Polymorphism CP2B6_HUMAN Q172H Polymorphism CP2B6_HUMAN R140Q Polymorphism CP2B6_HUMAN R487C Polymorphism CP2B6_HUMAN S259R Polymorphism CP2C8_HUMAN I244V Polymorphism CP2C8_HUMAN I264M Polymorphism CP2C8_HUMAN I269F Polymorphism CP2C8_HUMAN K399R Polymorphism CP2C8_HUMAN L390S Polymorphism CP2C8_HUMAN R139K Polymorphism CP2C9_HUMAN E272G Polymorphism CP2C9_HUMAN G417D Polymorphism CP2C9_HUMAN H251R Polymorphism CP2C9_HUMAN I359L Polymorphism CP2C9_HUMAN I359T Polymorphism CP2C9_HUMAN P489S Polymorphism CP2C9_HUMAN R150H Polymorphism CP2C9_HUMAN R335W Polymorphism CP2C9_HUMAN Y358C Polymorphism CP2CI_HUMAN T385M Polymorphism CP2CJ_HUMAN E122A Polymorphism CP2CJ_HUMAN E92D Polymorphism CP2CJ_HUMAN I19L Polymorphism CP2CJ_HUMAN P227L Polymorphism CP2CJ_HUMAN R132Q Polymorphism CP2CJ_HUMAN R144H Polymorphism CP2CJ_HUMAN R150H Polymorphism CP2CJ_HUMAN V331I Polymorphism CP2D6_HUMAN A237S Polymorphism CP2D6_HUMAN E410K Polymorphism CP2D6_HUMAN G169R Polymorphism CP2D6_HUMAN G212E Polymorphism CP2D6_HUMAN I297L Polymorphism CP2D6_HUMAN I369T Polymorphism CP2D6_HUMAN P34S Polymorphism CP2D6_HUMAN R26H Polymorphism CP2D6_HUMAN R296C Polymorphism CP2D6_HUMAN R343G Polymorphism CP2D6_HUMAN S311L Polymorphism CP2D6_HUMAN S486T Polymorphism CP2D6_HUMAN T107I Polymorphism CP2E1_HUMAN R76H Polymorphism CP2E1_HUMAN V179I Polymorphism CP2E1_HUMAN V389I Polymorphism CP2J2_HUMAN D342N Polymorphism CP2J2_HUMAN N124S Polymorphism CP2J2_HUMAN N404Y Polymorphism CP2J2_HUMAN T143A Polymorphism CP343_HUMAN P340A Polymorphism CP3A4_HUMAN D173H Polymorphism CP3A4_HUMAN G55D Polymorphism CP3A4_HUMAN I117V Polymorphism CP3A4_HUMAN L372F Polymorphism CP3A4_HUMAN M444T Polymorphism CP3A4_HUMAN P217R Polymorphism CP3A4_HUMAN P466S Polymorphism CP3A4_HUMAN R161Q Polymorphism CP3A4_HUMAN S221P Polymorphism CP3A4_HUMAN T184S Polymorphism CP3A4_HUMAN V169I Polymorphism CP3A5_HUMAN T398N Polymorphism CP3A7_HUMAN T409R Polymorphism CP4AB_HUMAN F434S Polymorphism CP4B1_HUMAN M331I Polymorphism CP4B1_HUMAN S322G Polymorphism CP4B1_HUMAN V345I Polymorphism CP4F2_HUMAN A269D Polymorphism CP4F2_HUMAN G185V Polymorphism CP4F2_HUMAN W12G Polymorphism CP4F3_HUMAN A269D Polymorphism CP4F3_HUMAN I271T Polymorphism CP4F3_HUMAN V270I Polymorphism CP4FC_HUMAN D76N Polymorphism CP4FC_HUMAN P13L Polymorphism CP4FC_HUMAN R188C Polymorphism CP4FC_HUMAN V90I Polymorphism CP4V2_HUMAN E79D Disease CP4V2_HUMAN G61S Disease CP4V2_HUMAN I111T Disease CP4V2_HUMAN M123V Disease CP4V2_HUMAN R508H Disease CP4V2_HUMAN W44R Disease CP7A1_HUMAN D347N Polymorphism CP7A1_HUMAN F100S Polymorphism CP7A1_HUMAN N233S Polymorphism CPN2_HUMAN A305T Polymorphism CPN2_HUMAN W509R Polymorphism CPNE5_HUMAN R582H Polymorphism CPNE7_HUMAN F77L Polymorphism CPNS1_HUMAN M224V Polymorphism CPSM_HUMAN G1376S Polymorphism CPSM_HUMAN K875E Disease CPSM_HUMAN M1283L Polymorphism CPSM_HUMAN T1406N Polymorphism CPSM_HUMAN T344A Polymorphism CPT1A_HUMAN A275T Polymorphism CPT1A_HUMAN D454G Disease CPT1A_HUMAN P479L Disease CPT1A_HUMAN T314I Disease CPT1B_HUMAN E531K Polymorphism CPT1B_HUMAN G320D Polymorphism CPT1B_HUMAN I66V Polymorphism CPT2_HUMAN D553N Disease CPT2_HUMAN F352C Polymorphism CPT2_HUMAN F383Y Disease CPT2_HUMAN M214T Disease CPT2_HUMAN M647V Polymorphism CPT2_HUMAN Q550R Disease CPT2_HUMAN R151Q Disease CPT2_HUMAN R503C Disease CPT2_HUMAN R631C Disease CPT2_HUMAN S113L Disease CPT2_HUMAN V368I Polymorphism CPT2_HUMAN Y210D Disease CPT2_HUMAN Y479F Disease CPT2_HUMAN Y628S Disease CPVL_HUMAN A435V Polymorphism CR1_HUMAN H1208R Polymorphism CR1_HUMAN H1850D Polymorphism CR1_HUMAN I1615V Polymorphism CR1_HUMAN K1590E Polymorphism CR1_HUMAN P1827R Polymorphism CR1_HUMAN R1601G Polymorphism CR1_HUMAN T1408I Polymorphism CR1_HUMAN T1408M Polymorphism CR2_HUMAN E1003A Polymorphism CR2_HUMAN I993V Polymorphism CR2_HUMAN S639N Polymorphism CRAL_HUMAN R150Q Disease CRBA4_HUMAN T83M Polymorphism CRGA_HUMAN L147P Polymorphism CRGB_HUMAN L110I Polymorphism CRGC_HUMAN R47H Polymorphism CRGD_HUMAN M101V Polymorphism CRGD_HUMAN P23T Disease CRGD_HUMAN R58H Disease CRIS3_HUMAN A134S Polymorphism CRIS3_HUMAN S106P Polymorphism CRUM1_HUMAN A161V Disease CRUM1_HUMAN C587Y Disease CRUM1_HUMAN F144V Disease CRUM1_HUMAN G1205R Disease CRUM1_HUMAN G846R Disease CRUM1_HUMAN G850S Disease CRUM1_HUMAN G959S Disease CRUM1_HUMAN I1100R Disease CRUM1_HUMAN I1100T Disease CRUM1_HUMAN I205T Polymorphism CRUM1_HUMAN L1071P Disease CRUM1_HUMAN L1107P Disease CRUM1_HUMAN L1107R Disease CRUM1_HUMAN M1041T Disease CRUM1_HUMAN N1317H Disease CRUM1_HUMAN N894S Disease CRUM1_HUMAN P836T Disease CRUM1_HUMAN Q679E Polymorphism CRUM1_HUMAN R1331H Polymorphism CRUM1_HUMAN R764C Disease CRUM1_HUMAN R769H Polymorphism CRUM1_HUMAN R769Q Polymorphism CRUM1_HUMAN R905Q Polymorphism CRUM1_HUMAN T289M Polymorphism CRUM1_HUMAN V162M Disease CRUM1_HUMAN V578E Disease CRUM1_HUMAN Y433C Disease CRUM2_HUMAN A351T Disease CRUM2_HUMAN E187D Disease CRUM2_HUMAN G159A Polymorphism CRUM2_HUMAN H746Q Polymorphism CRUM2_HUMAN M145T Polymorphism CRUM2_HUMAN P116L Disease CRUM2_HUMAN R534Q Disease CRUM2_HUMAN T1110M Polymorphism CRUM2_HUMAN V97L Disease CRX_HUMAN V242M Disease CRYAB_HUMAN P51L Polymorphism CRYAB_HUMAN S41Y Polymorphism CSF1_HUMAN A531V Polymorphism CSF1_HUMAN L408P Polymorphism CSF1_HUMAN S496F Polymorphism CSF2_HUMAN I117T Polymorphism CSF2_HUMAN T115I Polymorphism CSF3_HUMAN A174T Polymorphism CSF3R_HUMAN D320N Polymorphism CSF3R_HUMAN D510H Polymorphism CSF3R_HUMAN E405K Polymorphism CSF3R_HUMAN M231T Polymorphism CSF3R_HUMAN R440Q Polymorphism CSH_HUMAN P3A Polymorphism CSMD3_HUMAN I182M Polymorphism CSMD3_HUMAN V2963L Polymorphism CSPG2_HUMAN F2301Y Polymorphism CSPG2_HUMAN G428D Polymorphism CSPG2_HUMAN S300L Polymorphism CSPG3_HUMAN V1254A Polymorphism CST9_HUMAN H109P Polymorphism CT031_HUMAN A456T Polymorphism CT081_HUMAN Q22H Polymorphism CT103_HUMAN Q103E Polymorphism CTAG2_HUMAN E89Q Polymorphism CTAG2_HUMAN W138R Polymorphism CTCF_HUMAN H345R Disease CTCF_HUMAN K344E Disease CTCF_HUMAN R448Q Disease CTDP1_HUMAN T340M Polymorphism CTDSL_HUMAN N127S Polymorphism CTL2_HUMAN R154Q Polymorphism CTL3_HUMAN I438V Polymorphism CTL4_HUMAN I187V Polymorphism CTL4_HUMAN V326M Polymorphism CTN1_HUMAN A179V Polymorphism CTNB1_HUMAN M688V Polymorphism CTNB1_HUMAN S23R Disease CTND1_HUMAN R915K Polymorphism CTNL1_HUMAN E203K Polymorphism CTNL1_HUMAN E527Q Polymorphism CTNS_HUMAN G197R Disease CTNS_HUMAN K292R Disease CTNS_HUMAN S298N Disease CTRB1_HUMAN T250A Polymorphism CTRL_HUMAN H173R Polymorphism CU013_HUMAN G17S Polymorphism CU070_HUMAN V212L Polymorphism CUL3_HUMAN V567I Polymorphism CUL4A_HUMAN K544R Polymorphism CV008_HUMAN H239R Polymorphism CV008_HUMAN L129V Polymorphism CV019_HUMAN I579V Polymorphism CX3C1_HUMAN T57A Polymorphism CX3C1_HUMAN V122I Polymorphism CX3C1_HUMAN V147I Polymorphism CX3C1_HUMAN V249I Polymorphism CX7A2_HUMAN E40D Polymorphism CXA12_HUMAN P90S Disease CXA1_HUMAN A167T Polymorphism CXA1_HUMAN A39V Disease CXA1_HUMAN D123E Polymorphism CXA1_HUMAN G137R Disease CXA1_HUMAN I129T Disease CXA1_HUMAN K101N Disease CXA1_HUMAN K133E Disease CXA1_HUMAN L89V Disease CXA1_HUMAN Q48K Disease CXA1_HUMAN R147Q Polymorphism CXA1_HUMAN R201H Disease CXA1_HUMAN T203M Polymorphism CXA1_HUMAN T289N Polymorphism CXA1_HUMAN V215L Disease CXA1_HUMAN Y184H Polymorphism CXA3_HUMAN N62S Disease CXA3_HUMAN P186L Disease CXA4_HUMAN A127V Polymorphism CXA4_HUMAN P318S Polymorphism CXA4_HUMAN V129I Polymorphism CXA8_HUMAN P87S Disease CXB1_HUMAN A39V Disease CXB1_HUMAN A40V Disease CXB1_HUMAN E102G Disease CXB1_HUMAN E41K Disease CXB1_HUMAN F141L Disease CXB1_HUMAN F29L Disease CXB1_HUMAN G12S Disease CXB1_HUMAN G159S Disease CXB1_HUMAN G199R Disease CXB1_HUMAN H100Y Disease CXB1_HUMAN H94Y Disease CXB1_HUMAN I28T Disease CXB1_HUMAN K103E Disease CXB1_HUMAN K124N Disease CXB1_HUMAN L156F Disease CXB1_HUMAN L204F Disease CXB1_HUMAN L25F Disease CXB1_HUMAN L81F Disease CXB1_HUMAN M194V Disease CXB1_HUMAN M34V Disease CXB1_HUMAN M93V Disease CXB1_HUMAN N205S Disease CXB1_HUMAN P158S Disease CXB1_HUMAN P87S Disease CXB1_HUMAN R15Q Disease CXB1_HUMAN R164W Disease CXB1_HUMAN R183H Disease CXB1_HUMAN R219C Disease CXB1_HUMAN R219H Disease CXB1_HUMAN R220G Disease CXB1_HUMAN S11G Disease CXB1_HUMAN S128P Disease CXB1_HUMAN S85C Disease CXB1_HUMAN S85F Disease CXB1_HUMAN T55I Disease CXB1_HUMAN T86A Disease CXB1_HUMAN T86S Disease CXB1_HUMAN V120E Disease CXB1_HUMAN V13L Disease CXB1_HUMAN V181M Disease CXB1_HUMAN V189I Disease CXB1_HUMAN V35M Disease CXB1_HUMAN V63I Disease CXB1_HUMAN V84I Disease CXB1_HUMAN V95M Disease CXB1_HUMAN W133C Disease CXB1_HUMAN W133R Disease CXB1_HUMAN Y160H Disease CXB2_HUMAN A197S Disease CXB2_HUMAN D50N Disease CXB2_HUMAN E114G Polymorphism CXB2_HUMAN E129K Disease CXB2_HUMAN F191L Polymorphism CXB2_HUMAN F83L Polymorphism CXB2_HUMAN G12R Disease CXB2_HUMAN G160S Polymorphism CXB2_HUMAN M93I Disease CXB2_HUMAN R127H Polymorphism CXB2_HUMAN R143Q Disease CXB2_HUMAN R165W Polymorphism CXB2_HUMAN S113R Disease CXB2_HUMAN T123N Polymorphism CXB2_HUMAN V27I Polymorphism CXB2_HUMAN V84L Disease CXB2_HUMAN V95M Disease CXB3_HUMAN C86S Disease CXB3_HUMAN F137L Disease CXB3_HUMAN G12D Disease CXB3_HUMAN G12R Disease CXB3_HUMAN I141V Disease CXB3_HUMAN R42P Disease CXB3_HUMAN V200I Polymorphism CXB4_HUMAN F137L Disease CXB6_HUMAN S199T Polymorphism CXCR1_HUMAN A306T Polymorphism CXCR1_HUMAN M31R Polymorphism CXCR1_HUMAN R71C Polymorphism CXCR1_HUMAN T276S Polymorphism CXCR2_HUMAN R80C Polymorphism CXCR3_HUMAN R292Q Polymorphism CXCR5_HUMAN G344S Polymorphism CY1_HUMAN L89V Polymorphism CY24A_HUMAN H71Y Polymorphism CY24B_HUMAN A155T Disease CY24B_HUMAN C243S Disease CY24B_HUMAN D499G Disease CY24B_HUMAN E308K Disease CYB_HUMAN A122T Polymorphism CYB_HUMAN A191T Polymorphism CYB_HUMAN A229T Polymorphism CYB_HUMAN A329T Polymorphism CYB_HUMAN A330T Polymorphism CYB_HUMAN A39T Polymorphism CYB_HUMAN A39V Polymorphism CYB_HUMAN D171N Disease CYB_HUMAN F18L Polymorphism CYB_HUMAN F276L Disease CYB_HUMAN I153T Polymorphism CYB_HUMAN I164V Polymorphism CYB_HUMAN I306T Polymorphism CYB_HUMAN I334V Polymorphism CYB_HUMAN I78T Polymorphism CYB_HUMAN I78V Polymorphism CYB_HUMAN I7T Polymorphism CYB_HUMAN L236I Polymorphism CYB_HUMAN M316T Polymorphism CYB_HUMAN N260D Polymorphism CYB_HUMAN T194A Polymorphism CYB_HUMAN T360A Polymorphism CYB_HUMAN T368I Polymorphism CYB_HUMAN V353M Polymorphism CYB_HUMAN V356M Disease CYLN2_HUMAN R977P Polymorphism CYTD_HUMAN C46R Polymorphism DAD1_HUMAN A82T Polymorphism DAOA_HUMAN K30R Polymorphism DAX1_HUMAN R425T Disease DAZL_HUMAN T12A Polymorphism DAZL_HUMAN T54A Disease DCC_HUMAN M168T Disease DCC_HUMAN P1375H Disease DCC_HUMAN R201G Polymorphism DCDC2_HUMAN G221S Polymorphism DCE1_HUMAN F565L Polymorphism DCE1_HUMAN I228L Polymorphism DCE1_HUMAN R532Q Polymorphism DCE1_HUMAN V474G Polymorphism DCE2_HUMAN K124N Polymorphism DCE2_HUMAN K286R Polymorphism DCE2_HUMAN R375Q Polymorphism DCR1A_HUMAN G71D Polymorphism DCR1A_HUMAN H317D Polymorphism DCUP_HUMAN A80G Disease DCUP_HUMAN A80S Disease DCUP_HUMAN E167K Disease DCUP_HUMAN F229L Disease DCUP_HUMAN F232L Disease DCUP_HUMAN G318R Disease DCUP_HUMAN I260T Disease DCUP_HUMAN L195F Disease DCUP_HUMAN M324T Disease DCUP_HUMAN P235S Disease DCUP_HUMAN R142Q Disease DCUP_HUMAN R144P Disease DCUP_HUMAN R193P Disease DCUP_HUMAN R332H Disease DCUP_HUMAN V134Q Disease DCX_HUMAN G142A Disease DCX_HUMAN L85S Disease DDC_HUMAN E61D Polymorphism DDC_HUMAN M217V Polymorphism DDC_HUMAN M239I Polymorphism DDC_HUMAN M239L Polymorphism DDC_HUMAN P210L Polymorphism DDC_HUMAN R462Q Polymorphism DDC_HUMAN V17M Polymorphism DDEF2_HUMAN E748D Polymorphism DDX23_HUMAN F309L Polymorphism DDX58_HUMAN D580E Polymorphism DEAF1_HUMAN A545V Disease DEAF1_HUMAN E186V Disease DEAF1_HUMAN E202D Disease DEAF1_HUMAN E356H Disease DEAF1_HUMAN E498K Disease DEAF1_HUMAN K191N Disease DEAF1_HUMAN Q367H Disease DEAF1_HUMAN Q468H Disease DEAF1_HUMAN Q542H Disease DEAF1_HUMAN R218K Disease DEAF1_HUMAN R530L Disease DEAF1_HUMAN S364N Disease DEAF1_HUMAN T526N Disease DEAF1_HUMAN V442A Disease DEAF1_HUMAN Y397F Disease DECR_HUMAN K333N Polymorphism DERL1_HUMAN I171V Polymorphism DESM_HUMAN I450M Disease DESP_HUMAN R1255K Disease DFFB_HUMAN R196K Polymorphism DGKG_HUMAN R370W Polymorphism DHB1_HUMAN A237V Polymorphism DHB1_HUMAN S312G Polymorphism DHB2_HUMAN A121T Polymorphism DHB3_HUMAN C268Y Disease DHB3_HUMAN E215D Disease DHB3_HUMAN F208I Disease DHB3_HUMAN G289S Polymorphism DHB3_HUMAN M235V Disease DHB3_HUMAN N130S Disease DHB3_HUMAN P282L Disease DHB3_HUMAN Q176P Disease DHB3_HUMAN R80Q Disease DHB3_HUMAN R80W Disease DHB3_HUMAN S232L Disease DHB3_HUMAN V31I Polymorphism DHB4_HUMAN I559V Polymorphism DHB4_HUMAN R106H Polymorphism DHB4_HUMAN W511R Polymorphism DHC24_HUMAN N294T Disease DHCR7_HUMAN A247V Disease DHCR7_HUMAN C380Y Disease DHCR7_HUMAN E448Q Disease DHCR7_HUMAN F255L Disease DHCR7_HUMAN G410S Disease DHCR7_HUMAN I145L Disease DHCR7_HUMAN L68P Disease DHCR7_HUMAN S113C Disease DHCR7_HUMAN S169L Disease DHCR7_HUMAN V326L Disease DHCR7_HUMAN V353A Disease DHCR7_HUMAN W182L Disease DHE3_HUMAN E349A Disease DHE3_HUMAN G499D Disease DHE3_HUMAN H507Y Disease DHE3_HUMAN R318K Disease DHE3_HUMAN R318T Disease DHE3_HUMAN R322H Disease DHE3_HUMAN Y319C Disease DHI2_HUMAN A237V Disease DHI2_HUMAN D244N Disease DHI2_HUMAN L179R Disease DHI2_HUMAN R208H Disease DHI2_HUMAN R213C Disease DHI2_HUMAN S180F Disease DHPR_HUMAN T51S Polymorphism DHPR_HUMAN W36R Disease DHRS6_HUMAN S70N Polymorphism DHRSX_HUMAN E297K Polymorphism DHSB_HUMAN R242H Disease DHSD_HUMAN G12S Polymorphism DHSO_HUMAN L238Q Polymorphism DISC1_HUMAN Q264R Polymorphism DKC1_HUMAN A352V Disease DKC1_HUMAN K38E Disease DKC1_HUMAN L320V Disease DKC1_HUMAN L71Y Disease DKC1_HUMAN M349I Disease DKC1_HUMAN S120G Disease DLDH_HUMAN K72E Disease DLDH_HUMAN L331V Polymorphism DLDH_HUMAN P488L Disease DLDH_HUMAN R495G Disease DLL3_HUMAN G385D Disease DLL3_HUMAN L218P Polymorphism DMC1_HUMAN M200V Polymorphism DMD_HUMAN A3421V Disease DMD_HUMAN A784G Polymorphism DMD_HUMAN E2910V Polymorphism DMD_HUMAN F3228L Disease DMD_HUMAN H2921R Disease DMD_HUMAN K1377N Polymorphism DMD_HUMAN K18N Disease DMD_HUMAN K2366Q Polymorphism DMD_HUMAN K773E Disease DMD_HUMAN L54R Disease DMD_HUMAN L623I Polymorphism DMD_HUMAN Q133P Polymorphism DMD_HUMAN Q2937R Polymorphism DMD_HUMAN Q365H Polymorphism DMD_HUMAN R1745H Polymorphism DMD_HUMAN R1844S Polymorphism DMD_HUMAN T279A Disease DMD_HUMAN V1197F Polymorphism DMN_HUMAN A272V Polymorphism DMN_HUMAN P567L Polymorphism DMN_HUMAN R1067P Polymorphism DMN_HUMAN V330I Polymorphism DMRT1_HUMAN R281S Polymorphism DMRT1_HUMAN S45T Polymorphism DNAS1_HUMAN P154A Polymorphism DNAS1_HUMAN Q31E Polymorphism DNAS1_HUMAN R244Q Polymorphism DNJB7_HUMAN E41A Polymorphism DNJBB_HUMAN I264V Polymorphism DNJBC_HUMAN E304K Polymorphism DNL1_HUMAN M480V Polymorphism DNL1_HUMAN R409H Polymorphism DNL1_HUMAN V349M Polymorphism DNL1_HUMAN V369I Polymorphism DNL4_HUMAN I591V Polymorphism DNL4_HUMAN L472F Polymorphism DNL4_HUMAN P164S Polymorphism DNM1L_HUMAN T71S Polymorphism DNM3B_HUMAN G663S Disease DNM3B_HUMAN V726G Disease DOC2A_HUMAN G48S Polymorphism DOCK2_HUMAN S1746T Polymorphism DOCK4_HUMAN E606Q Polymorphism DOCK4_HUMAN V1884M Disease DOPO_HUMAN A197T Polymorphism DOPO_HUMAN A304S Polymorphism DOPO_HUMAN E236Q Polymorphism DOPO_HUMAN K225N Polymorphism DOT1L_HUMAN G1386S Polymorphism DOT1L_HUMAN V1418L Polymorphism DP13B_HUMAN V433A Polymorphism DPM1_HUMAN R92G Disease DPM1_HUMAN S248P Disease DPOD1_HUMAN R1086Q Polymorphism DPOD1_HUMAN R119H Polymorphism DPOD1_HUMAN R177H Polymorphism DPOD1_HUMAN R849H Polymorphism DPOD1_HUMAN S173N Polymorphism DPOD2_HUMAN N303S Polymorphism DPOE1_HUMAN A252V Polymorphism DPOE1_HUMAN E1399Q Polymorphism DPOE1_HUMAN N1396S Polymorphism DPOG1_HUMAN A467T Disease DPOG1_HUMAN A957S Disease DPOG1_HUMAN N468D Disease DPOG1_HUMAN P324S Polymorphism DPOG1_HUMAN R227W Disease DPOLM_HUMAN E107D Polymorphism DPOLM_HUMAN L484F Polymorphism DPOLZ_HUMAN D1812H Polymorphism DPOLZ_HUMAN R2762Q Polymorphism DPOLZ_HUMAN S2607T Polymorphism DPOLZ_HUMAN V3064I Polymorphism DPOLZ_HUMAN Y1156C Polymorphism DPYD_HUMAN C29R Polymorphism DPYD_HUMAN I543V Polymorphism DPYD_HUMAN V732I Polymorphism DPYL2_HUMAN A118T Polymorphism DPYL3_HUMAN A442S Polymorphism DPYS_HUMAN G435R Disease DPYS_HUMAN Q334R Disease DRD1_HUMAN R50S Polymorphism DRD1_HUMAN S199A Polymorphism DRD2_HUMAN P310S Polymorphism DRD2_HUMAN V154I Disease DRD3_HUMAN S9G Polymorphism DRD4_HUMAN V194G Polymorphism DRD5_HUMAN A269V Polymorphism DRD5_HUMAN P330Q Polymorphism DSCAM_HUMAN D232E Polymorphism DSRAD_HUMAN R384K Polymorphism DTX2_HUMAN G384E Polymorphism DTX2_HUMAN T421A Polymorphism DUFFY_HUMAN A100T Polymorphism DUFFY_HUMAN G42D Polymorphism DUS21_HUMAN M186T Polymorphism DUS5_HUMAN E154D Polymorphism DUS6_HUMAN L114V Polymorphism DYH11_HUMAN A3474T Polymorphism DYH11_HUMAN I2682V Polymorphism DYH11_HUMAN L3715V Polymorphism DYH11_HUMAN Q639R Polymorphism DYH11_HUMAN R3004Q Disease DYH11_HUMAN S2641N Polymorphism DYH11_HUMAN S3765P Polymorphism DYH11_HUMAN T4177I Polymorphism DYH11_HUMAN V1023A Polymorphism DYH5_HUMAN A4134V Polymorphism DYH5_HUMAN G24E Polymorphism DYH5_HUMAN H12Q Polymorphism DYH5_HUMAN I4450V Polymorphism DYH5_HUMAN L2862F Polymorphism DYH5_HUMAN Q2463R Polymorphism DYH5_HUMAN T4220A Polymorphism DYH5_HUMAN T558A Polymorphism DYHC_HUMAN D3902N Polymorphism DYHC_HUMAN H4029Q Polymorphism DYI3_HUMAN A8S Polymorphism DYI3_HUMAN G515S Disease DYJ1_HUMAN R277Q Polymorphism DYNA_HUMAN A163P Polymorphism DYR1A_HUMAN Y415F Polymorphism DYRK4_HUMAN N189S Polymorphism DYRK4_HUMAN V95I Polymorphism DYSF_HUMAN H1857R Disease DYSF_HUMAN I1298V Disease DYSF_HUMAN R1242H Polymorphism DYXC1_HUMAN G191E Polymorphism DYXC1_HUMAN V91I Polymorphism E2AK1_HUMAN K558R Polymorphism E2F1_HUMAN G393S Polymorphism E2F1_HUMAN R252H Polymorphism E2F2_HUMAN G205R Polymorphism E2F2_HUMAN Q226H Polymorphism E2F3_HUMAN D389N Polymorphism E2F4_HUMAN T293P Polymorphism EAA1_HUMAN E219D Polymorphism EAA3_HUMAN A27G Polymorphism ECE1_HUMAN T341I Polymorphism ECEL1_HUMAN Y328H Polymorphism ECH1_HUMAN E41A Polymorphism ECHB_HUMAN D264G Disease ECHB_HUMAN G281D Disease ECHB_HUMAN G302S Disease ECHB_HUMAN P295L Disease ECHB_HUMAN R118G Disease ECHB_HUMAN R248H Disease ECHM_HUMAN T75I Polymorphism ECHM_HUMAN V11A Polymorphism ECM1_HUMAN G415S Polymorphism EDN2_HUMAN P168L Polymorphism EDNRB_HUMAN A183G Disease EDNRB_HUMAN F112V Polymorphism EDNRB_HUMAN F292L Disease EDNRB_HUMAN G57S Disease EDNRB_HUMAN L17F Polymorphism EDNRB_HUMAN M374I Disease EDNRB_HUMAN R319W Disease EDNRB_HUMAN S305N Disease EDNRB_HUMAN T244M Polymorphism EDNRB_HUMAN W276C Disease EFHC1_HUMAN F229L Disease EFHC1_HUMAN R182H Disease EFNA1_HUMAN D159V Polymorphism EFNB1_HUMAN V189A Polymorphism EGF_HUMAN D257H Polymorphism EGF_HUMAN D784V Polymorphism EGF_HUMAN D981E Polymorphism EGF_HUMAN G723R Polymorphism EGF_HUMAN I708M Polymorphism EGF_HUMAN M842T Polymorphism EGF_HUMAN R431K Polymorphism EGF_HUMAN V920E Polymorphism EGFL7_HUMAN I153V Polymorphism EGFL8_HUMAN A204E Polymorphism EGFR_HUMAN H988P Polymorphism EGFR_HUMAN P266R Polymorphism EGFR_HUMAN R521K Polymorphism EGFR_HUMAN R962G Polymorphism EGFR_HUMAN R98Q Polymorphism EGFR_HUMAN V674I Polymorphism EGR2_HUMAN D355V Disease EGR2_HUMAN R381H Disease EGR2_HUMAN R409W Disease EI2BD_HUMAN A228V Disease EI2BD_HUMAN C465R Disease EI2BD_HUMAN R357Q Disease EI2BE_HUMAN L106F Disease EI2BE_HUMAN R113H Disease EI2BE_HUMAN R315G Disease EI2BE_HUMAN R315H Disease EI2BE_HUMAN R339P Disease EI2BE_HUMAN V587I Polymorphism EKI2_HUMAN R227Q Polymorphism ELK1_HUMAN G144S Polymorphism ELK1_HUMAN S183N Polymorphism ELNE_HUMAN P257L Polymorphism ELNE_HUMAN R191Q Disease ELNE_HUMAN V177F Disease ELNE_HUMAN V219I Polymorphism ELOV4_HUMAN I267T Polymorphism ELOV4_HUMAN M299V Polymorphism EM55_HUMAN E448Q Polymorphism EMD_HUMAN P183T Disease EMID1_HUMAN A107G Polymorphism ENH1_HUMAN V81L Polymorphism ENK7_HUMAN C97Y Polymorphism ENK7_HUMAN V348I Polymorphism ENOB_HUMAN N70S Polymorphism ENOB_HUMAN V84A Polymorphism ENOG_HUMAN P263A Polymorphism ENOG_HUMAN T394A Polymorphism ENP1_HUMAN V293I Polymorphism ENP4_HUMAN K354E Polymorphism ENP6_HUMAN L138V Polymorphism ENPP1_HUMAN S287F Disease ENPP1_HUMAN Y268H Polymorphism ENPP5_HUMAN L6I Polymorphism ENW1_HUMAN R138Q Polymorphism ENW1_HUMAN S307N Polymorphism EP15_HUMAN I822M Polymorphism EPB42_HUMAN A111T Disease EPHA7_HUMAN P278S Polymorphism EPHA7_HUMAN V138I Polymorphism EPHA8_HUMAN V444M Polymorphism EPHB1_HUMAN G152R Polymorphism EPHB1_HUMAN M847T Polymorphism EPHB1_HUMAN R367G Polymorphism EPHB1_HUMAN R485S Polymorphism EPHB1_HUMAN T87S Polymorphism EPHB6_HUMAN G107S Polymorphism EPHB6_HUMAN R484Q Polymorphism EPHB6_HUMAN S309A Polymorphism ERBB2_HUMAN I654V Polymorphism ERBB2_HUMAN I655V Polymorphism ERBB2_HUMAN P1170A Polymorphism ERCC2_HUMAN A594P Disease ERCC2_HUMAN D312N Polymorphism ERCC2_HUMAN H201Y Polymorphism ERCC2_HUMAN I199M Polymorphism ERCC2_HUMAN K751Q Polymorphism ERCC2_HUMAN L485P Disease ERCC2_HUMAN R601W Disease ERCC2_HUMAN R658H Disease ERCC3_HUMAN K117R Polymorphism ERCC4_HUMAN A157V Polymorphism ERCC4_HUMAN E864G Polymorphism ERCC4_HUMAN G692D Polymorphism ERCC4_HUMAN I214M Disease ERCC4_HUMAN I695T Polymorphism ERCC4_HUMAN I862V Polymorphism ERCC4_HUMAN S651P Polymorphism ERCC5_HUMAN H1104D Polymorphism ERCC5_HUMAN N879S Polymorphism ERCC5_HUMAN R1009H Polymorphism ERCC5_HUMAN V145I Polymorphism ERCC6_HUMAN G399D Polymorphism ERCC6_HUMAN P1095R Polymorphism ERCC6_HUMAN T942M Polymorphism ERCC6_HUMAN W851R Disease ERCC8_HUMAN Y200C Polymorphism ERG24_HUMAN I299T Polymorphism ERG7_HUMAN L642V Polymorphism ES1_HUMAN L248V Polymorphism ESR1_HUMAN G77S Polymorphism EST1A_HUMAN R291P Polymorphism EST1_HUMAN D203E Polymorphism EST1_HUMAN R199H Polymorphism EST1_HUMAN S75N Polymorphism EST2_HUMAN R206H Polymorphism ESTD_HUMAN G190E Polymorphism ESTD_HUMAN G257D Polymorphism ETFA_HUMAN T171I Polymorphism ETFA_HUMAN V157G Disease ETFB_HUMAN R164Q Disease ETFB_HUMAN T154M Polymorphism ETHE1_HUMAN T136A Disease ETV7_HUMAN P212L Polymorphism EVC_HUMAN G403S Polymorphism EVC_HUMAN T449K Polymorphism EXT1_HUMAN A486V Disease EXT1_HUMAN D164H Disease EXT1_HUMAN G339D Disease EXT1_HUMAN N316S Disease EXT1_HUMAN P496L Disease EXT1_HUMAN R340H Disease EXT1_HUMAN R340L Disease EXT1_HUMAN R340S Disease EXT2_HUMAN A202V Disease EXT2_HUMAN I380T Disease EXTL1_HUMAN N379H Polymorphism EYA4_HUMAN G277S Polymorphism EZRI_HUMAN V531L Polymorphism F10A1_HUMAN M297I Polymorphism F10C1_HUMAN H16R Polymorphism F10C1_HUMAN R78T Polymorphism F13A_HUMAN L588Q Polymorphism F13A_HUMAN P564L Polymorphism F13A_HUMAN Q651E Polymorphism F13A_HUMAN R681H Disease F13A_HUMAN V34L Polymorphism F13A_HUMAN V650I Polymorphism F13B_HUMAN D569E Polymorphism F13B_HUMAN E388V Polymorphism F13B_HUMAN H115R Polymorphism F13B_HUMAN H350R Polymorphism F13B_HUMAN I342T Polymorphism F13B_HUMAN L529P Polymorphism F13B_HUMAN M49V Polymorphism F16P1_HUMAN K217R Polymorphism FA10_HUMAN A152T Polymorphism FA10_HUMAN Q30H Polymorphism FA11_HUMAN E341K Disease FA11_HUMAN F460V Disease FA11_HUMAN T322I Disease FA11_HUMAN T404N Disease FA11_HUMAN W399R Polymorphism FA12_HUMAN G545D Polymorphism FA12_HUMAN Y605H Polymorphism FA5_HUMAN D107H Polymorphism FA5_HUMAN H865R Polymorphism FA5_HUMAN K858R Polymorphism FA5_HUMAN K925E Polymorphism FA5_HUMAN L1749V Polymorphism FA5_HUMAN M1820I Polymorphism FA5_HUMAN R334G Disease FA5_HUMAN R334T Disease FA5_HUMAN R513K Polymorphism FA5_HUMAN T1685S Polymorphism FA5_HUMAN V1764M Polymorphism FA7_HUMAN A352T Polymorphism FA7_HUMAN E445K Polymorphism FA7_HUMAN R413Q Polymorphism FA7_HUMAN T367S Polymorphism FA7_HUMAN V295D Polymorphism FA8_HUMAN A1853T Disease FA8_HUMAN A1853V Disease FA8_HUMAN A488G Disease FA8_HUMAN A663V Disease FA8_HUMAN A723T Disease FA8_HUMAN C348R Disease FA8_HUMAN C348S Disease FA8_HUMAN D1260E Polymorphism FA8_HUMAN E132D Disease FA8_HUMAN E1723K Disease FA8_HUMAN E291G Disease FA8_HUMAN E72K Disease FA8_HUMAN E739K Disease FA8_HUMAN F2120L Disease FA8_HUMAN F312S Disease FA8_HUMAN F677L Disease FA8_HUMAN G130R Disease FA8_HUMAN G1769R Disease FA8_HUMAN G439S Disease FA8_HUMAN H1980Y Disease FA8_HUMAN I2051S Disease FA8_HUMAN I2204T Disease FA8_HUMAN I331V Disease FA8_HUMAN I405S Disease FA8_HUMAN I585T Disease FA8_HUMAN K185T Disease FA8_HUMAN K529E Disease FA8_HUMAN L1481P Polymorphism FA8_HUMAN L431F Disease FA8_HUMAN M1791T Disease FA8_HUMAN M1842I Disease FA8_HUMAN M2183V Disease FA8_HUMAN M2257V Polymorphism FA8_HUMAN M586V Disease FA8_HUMAN M699V Disease FA8_HUMAN N2038S Disease FA8_HUMAN P2319S Disease FA8_HUMAN Q584K Disease FA8_HUMAN R1800H Disease FA8_HUMAN R1960Q Disease FA8_HUMAN R2178H Disease FA8_HUMAN R2228L Disease FA8_HUMAN R301H Disease FA8_HUMAN R391P Disease FA8_HUMAN R550G Disease FA8_HUMAN R550H Disease FA8_HUMAN S189L Disease FA8_HUMAN S202R Disease FA8_HUMAN S308L Disease FA8_HUMAN T2141N Disease FA8_HUMAN T2173I Disease FA8_HUMAN T294I Disease FA8_HUMAN T314I Disease FA8_HUMAN V181E Disease FA8_HUMAN V653A Disease FA8_HUMAN V653M Disease FA8_HUMAN W2065R Disease FA8_HUMAN Y605S Disease FA9_HUMAN A265T Disease FA9_HUMAN A279T Disease FA9_HUMAN A366D Disease FA9_HUMAN C108S Disease FA9_HUMAN D110N Disease FA9_HUMAN D93G Disease FA9_HUMAN E124K Disease FA9_HUMAN E291V Disease FA9_HUMAN E433A Disease FA9_HUMAN E433K Disease FA9_HUMAN F395I Disease FA9_HUMAN F395L Disease FA9_HUMAN F424V Disease FA9_HUMAN G106D Disease FA9_HUMAN G106S Disease FA9_HUMAN G125E Disease FA9_HUMAN G139D Disease FA9_HUMAN G139S Disease FA9_HUMAN G351D Disease FA9_HUMAN G363W Disease FA9_HUMAN G432S Disease FA9_HUMAN G432V Disease FA9_HUMAN G58A Disease FA9_HUMAN I112S Disease FA9_HUMAN I136T Disease FA9_HUMAN I316F Disease FA9_HUMAN I344L Disease FA9_HUMAN I390F Disease FA9_HUMAN K362E Disease FA9_HUMAN K387E Disease FA9_HUMAN L383F Disease FA9_HUMAN L383I Disease FA9_HUMAN N113K Disease FA9_HUMAN N283D Disease FA9_HUMAN N306S Disease FA9_HUMAN P101R Disease FA9_HUMAN P333T Disease FA9_HUMAN Q167H Disease FA9_HUMAN Q241H Disease FA9_HUMAN Q96P Disease FA9_HUMAN R191C Disease FA9_HUMAN R191H Disease FA9_HUMAN R226G Disease FA9_HUMAN R226Q Disease FA9_HUMAN R294G Disease FA9_HUMAN R294Q Disease FA9_HUMAN R379G Disease FA9_HUMAN R379Q Disease FA9_HUMAN R404T Disease FA9_HUMAN R43Q Disease FA9_HUMAN R449Q Disease FA9_HUMAN R75Q Disease FA9_HUMAN S169C Disease FA9_HUMAN S411G Disease FA9_HUMAN S430T Disease FA9_HUMAN T194A Polymorphism FA9_HUMAN T342K Disease FA9_HUMAN V228F Disease FA9_HUMAN V228L Disease FA9_HUMAN V30I Disease FA9_HUMAN V419E Disease FA9_HUMAN W431G Disease FAAA_HUMAN G158D Disease FAAA_HUMAN G337S Disease FAAH_HUMAN P129T Polymorphism FABPI_HUMAN A54T Polymorphism FABPL_HUMAN A54T Polymorphism FAK2_HUMAN K838T Polymorphism FAM3A_HUMAN C213W Polymorphism FANCA_HUMAN T266A Polymorphism FANCA_HUMAN V1287I Polymorphism FANCC_HUMAN Q465R Polymorphism FANCE_HUMAN A502T Polymorphism FANCE_HUMAN R343Q Polymorphism FANCG_HUMAN K430E Polymorphism FANCG_HUMAN R513Q Polymorphism FANCG_HUMAN S378L Polymorphism FANCJ_HUMAN A349P Disease FANCJ_HUMAN L195P Polymorphism FANCJ_HUMAN M299I Disease FANCJ_HUMAN R707C Disease FANCJ_HUMAN W647C Disease FANCM_HUMAN P1812A Polymorphism FASTK_HUMAN A436V Polymorphism FBLI1_HUMAN F191S Polymorphism FBLN1_HUMAN R695H Polymorphism FBLN3_HUMAN I220F Polymorphism FBLN3_HUMAN R345W Disease FBLN5_HUMAN A363T Disease FBLN5_HUMAN G412E Disease FBLN5_HUMAN I169T Disease FBLN5_HUMAN P87S Disease FBLN5_HUMAN R71Q Disease FBLN5_HUMAN S227P Disease FBLN5_HUMAN V60L Disease FBN1_HUMAN A1337P Disease FBN1_HUMAN A2160P Disease FBN1_HUMAN A2385T Disease FBN1_HUMAN A705T Disease FBN1_HUMAN C1055G Disease FBN1_HUMAN C1129Y Disease FBN1_HUMAN C1153S Disease FBN1_HUMAN C1153Y Disease FBN1_HUMAN C1249S Disease FBN1_HUMAN C1278S Disease FBN1_HUMAN C1284G Disease FBN1_HUMAN C1333S Disease FBN1_HUMAN C1374S Disease FBN1_HUMAN C1513R Disease FBN1_HUMAN C154S Disease FBN1_HUMAN C1564F Disease FBN1_HUMAN C166S Disease FBN1_HUMAN C1806S Disease FBN1_HUMAN C1928G Disease FBN1_HUMAN C1928R Disease FBN1_HUMAN C1928Y Disease FBN1_HUMAN C1971Y Disease FBN1_HUMAN C2085R Disease FBN1_HUMAN C2111Y Disease FBN1_HUMAN C2258R Disease FBN1_HUMAN C2307S Disease FBN1_HUMAN C2571R Disease FBN1_HUMAN C2605R Disease FBN1_HUMAN C2605Y Disease FBN1_HUMAN C2663S Disease FBN1_HUMAN C652S Disease FBN1_HUMAN C661Y Disease FBN1_HUMAN C683R Disease FBN1_HUMAN C711Y Disease FBN1_HUMAN C776G Disease FBN1_HUMAN C781Y Disease FBN1_HUMAN C816S Disease FBN1_HUMAN C832Y Disease FBN1_HUMAN C862R Disease FBN1_HUMAN C890G Disease FBN1_HUMAN C890R Disease FBN1_HUMAN C908R Disease FBN1_HUMAN C921G Disease FBN1_HUMAN D1072G Disease FBN1_HUMAN D1113V Disease FBN1_HUMAN D1155N Disease FBN1_HUMAN D1404Y Disease FBN1_HUMAN D2127E Disease FBN1_HUMAN D490Y Disease FBN1_HUMAN D654N Disease FBN1_HUMAN D723A Disease FBN1_HUMAN E1073K Disease FBN1_HUMAN E1200G Disease FBN1_HUMAN E1325Q Disease FBN1_HUMAN E1366K Disease FBN1_HUMAN E2447K Disease FBN1_HUMAN E2570K Disease FBN1_HUMAN E2610K Disease FBN1_HUMAN G1013R Disease FBN1_HUMAN G1058D Disease FBN1_HUMAN G1475E Disease FBN1_HUMAN G1475S Disease FBN1_HUMAN G1796E Disease FBN1_HUMAN G2536R Disease FBN1_HUMAN G2618R Disease FBN1_HUMAN G2627R Disease FBN1_HUMAN G592D Disease FBN1_HUMAN G985E Disease FBN1_HUMAN G985R Disease FBN1_HUMAN I1048T Disease FBN1_HUMAN I1909T Disease FBN1_HUMAN I2269T Disease FBN1_HUMAN I2585T Disease FBN1_HUMAN K1023N Disease FBN1_HUMAN K1043R Disease FBN1_HUMAN M1576T Disease FBN1_HUMAN N1382S Disease FBN1_HUMAN N1893K Disease FBN1_HUMAN N2144S Disease FBN1_HUMAN N2223H Disease FBN1_HUMAN P1148A Polymorphism FBN1_HUMAN P1424A Disease FBN1_HUMAN P1424S Disease FBN1_HUMAN P1837S Disease FBN1_HUMAN P2154R Disease FBN1_HUMAN R1137P Disease FBN1_HUMAN R114C Disease FBN1_HUMAN R1170H Disease FBN1_HUMAN R122C Disease FBN1_HUMAN R1530C Disease FBN1_HUMAN R1915S Disease FBN1_HUMAN R2335W Disease FBN1_HUMAN R439G Disease FBN1_HUMAN R545C Disease FBN1_HUMAN R627C Disease FBN1_HUMAN R636I Disease FBN1_HUMAN S115C Disease FBN1_HUMAN S681Y Disease FBN1_HUMAN T1887I Disease FBN1_HUMAN T2101M Polymorphism FBN1_HUMAN V984I Disease FBN1_HUMAN W217G Disease FBN1_HUMAN W366C Disease FBN1_HUMAN Y1101C Disease FBN1_HUMAN Y635C Disease FBN2_HUMAN D1114H Disease FBN2_HUMAN E390K Disease FBN2_HUMAN P2427T Polymorphism FBN2_HUMAN P2770S Polymorphism FBN2_HUMAN V964I Polymorphism FBN3_HUMAN D2610E Polymorphism FBN3_HUMAN L1904P Polymorphism FBN3_HUMAN N1869K Polymorphism FBN3_HUMAN N662D Polymorphism FBN3_HUMAN P1958H Polymorphism FBN3_HUMAN R1806Q Polymorphism FBN3_HUMAN R473Q Polymorphism FBN3_HUMAN R935L Polymorphism FBN3_HUMAN S1293N Polymorphism FBN3_HUMAN S1614G Polymorphism FBN3_HUMAN V1326I Polymorphism FBN3_HUMAN V938F Polymorphism FBW1A_HUMAN A543S Polymorphism FBX34_HUMAN L533P Polymorphism FBX7_HUMAN M115I Polymorphism FBXW7_HUMAN R465C Disease FBXW7_HUMAN R505L Disease FBXW7_HUMAN S668G Polymorphism FCERA_HUMAN K84R Polymorphism FCG2A_HUMAN R167H Polymorphism FCG2B_HUMAN I232T Polymorphism FCG3A_HUMAN F157V Polymorphism FCG3A_HUMAN F176V Polymorphism FCG3A_HUMAN L66R Polymorphism FCG3B_HUMAN A78D Polymorphism FCG3B_HUMAN I106V Polymorphism FCG3B_HUMAN N82D Polymorphism FCG3B_HUMAN S36R Polymorphism FCG3B_HUMAN S65N Polymorphism FDFT_HUMAN K45R Polymorphism FER_HUMAN V439L Polymorphism FETA_HUMAN A570G Polymorphism FGD1_HUMAN R522H Disease FGD1_HUMAN R610Q Disease FGD2_HUMAN Q32H Polymorphism FGD3_HUMAN V275I Polymorphism FGF11_HUMAN R163G Polymorphism FGF20_HUMAN G116R Polymorphism FGF20_HUMAN P175A Polymorphism FGF6_HUMAN V36A Polymorphism FGF9_HUMAN I94V Polymorphism FGFR1_HUMAN A167S Disease FGFR1_HUMAN P252R Disease FGFR1_HUMAN P772S Disease FGFR2_HUMAN A337P Disease FGFR2_HUMAN A344G Disease FGFR2_HUMAN A362S Disease FGFR2_HUMAN C278F Disease FGFR2_HUMAN C342F Disease FGFR2_HUMAN F276V Disease FGFR2_HUMAN G613R Polymorphism FGFR2_HUMAN G663E Disease FGFR2_HUMAN K292E Disease FGFR2_HUMAN K526E Disease FGFR2_HUMAN K641R Disease FGFR2_HUMAN M186T Polymorphism FGFR2_HUMAN N549H Disease FGFR2_HUMAN P253R Disease FGFR2_HUMAN P263L Disease FGFR2_HUMAN R678G Disease FGFR2_HUMAN S252F Disease FGFR2_HUMAN S252L Disease FGFR2_HUMAN S354Y Disease FGFR2_HUMAN V359F Disease FGFR2_HUMAN Y301C Disease FGFR3_HUMAN A441T Polymorphism FGFR3_HUMAN A717T Polymorphism FGFR3_HUMAN E322K Disease FGFR3_HUMAN F384L Polymorphism FGFR3_HUMAN G65R Polymorphism FGFR3_HUMAN I538V Disease FGFR3_HUMAN I726F Polymorphism FGFR3_HUMAN K650E Disease FGFR3_HUMAN K650M Disease FGFR3_HUMAN K650Q Disease FGFR3_HUMAN N540K Disease FGFR3_HUMAN N540S Disease FGFR3_HUMAN N540T Disease FGFR3_HUMAN P250R Polymorphism FGL1_HUMAN I15T Polymorphism FGL1_HUMAN P105L Polymorphism FGL1_HUMAN Y111H Polymorphism FGRL1_HUMAN P362Q Polymorphism FHL5_HUMAN V211M Polymorphism FHR1_HUMAN Q175E Polymorphism FHR1_HUMAN V159L Polymorphism FHR1_HUMAN Y157H Polymorphism FIBA_HUMAN I6V Polymorphism FIBA_HUMAN T331A Polymorphism FIBB_HUMAN P100S Polymorphism FIBB_HUMAN P265L Polymorphism FIBB_HUMAN R478K Polymorphism FIBG_HUMAN G191R Polymorphism FIBG_HUMAN M410V Polymorphism FKBP2_HUMAN A25T Polymorphism FLNA_HUMAN A1187T Disease FLNA_HUMAN A199S Disease FLNA_HUMAN A38G Disease FLNA_HUMAN D1158A Disease FLNA_HUMAN D1183E Disease FLNA_HUMAN E253K Disease FLNA_HUMAN F369L Polymorphism FLNA_HUMAN S1185L Disease FLNA_HUMAN T554K Disease FLNA_HUMAN V319A Polymorphism FLNA_HUMAN V551A Polymorphism FLNB_HUMAN N1157D Polymorphism FLNB_HUMAN V1018M Polymorphism FLNC_HUMAN A1599T Polymorphism FLNC_HUMAN G1580D Polymorphism FLNC_HUMAN K2135R Polymorphism FLNC_HUMAN P2203R Polymorphism FLRT3_HUMAN H400Q Polymorphism FLVC2_HUMAN V16A Polymorphism FMO1_HUMAN F326L Polymorphism FMO1_HUMAN H96Q Polymorphism FMO1_HUMAN I302T Polymorphism FMO1_HUMAN I302V Polymorphism FMO1_HUMAN I321V Polymorphism FMO1_HUMAN K372R Polymorphism FMO1_HUMAN R222Q Polymorphism FMO1_HUMAN S226T Polymorphism FMO2_HUMAN D35G Polymorphism FMO2_HUMAN F68Y Polymorphism FMO2_HUMAN N412K Polymorphism FMO2_HUMAN R237Q Polymorphism FMO2_HUMAN V58I Polymorphism FMO3_HUMAN A51T Disease FMO3_HUMAN D131H Polymorphism FMO3_HUMAN D197E Polymorphism FMO3_HUMAN E157K Polymorphism FMO3_HUMAN E307G Polymorphism FMO3_HUMAN E361Q Polymorphism FMO3_HUMAN L359P Polymorphism FMO3_HUMAN M65I Disease FMO3_HUMAN R386L Disease FMO3_HUMAN V256M Polymorphism FMO3_HUMAN V276A Polymorphism FMO4_HUMAN E338Q Polymorphism FMO4_HUMAN F535L Polymorphism FMO4_HUMAN G371S Polymorphism FMO4_HUMAN I36T Polymorphism FMO4_HUMAN V322A Polymorphism FMO5_HUMAN R505S Polymorphism FMO6_HUMAN V127I Polymorphism FMO6_HUMAN V257I Polymorphism FOSB_HUMAN G33S Polymorphism FOXC1_HUMAN M161K Polymorphism FOXC1_HUMAN S82T Disease FOXE1_HUMAN A65V Disease FOXH1_HUMAN S113T Polymorphism FOXH1_HUMAN T125S Polymorphism FOXL2_HUMAN A66V Disease FOXL2_HUMAN E69K Disease FOXL2_HUMAN N105S Disease FOXM1_HUMAN S643P Polymorphism FOXN1_HUMAN A283V Polymorphism FOXN1_HUMAN A599P Polymorphism FOXP3_HUMAN I363V Disease FPR1_HUMAN A346E Polymorphism FPR1_HUMAN L101V Polymorphism FPR1_HUMAN N192K Polymorphism FREM2_HUMAN T2153S Polymorphism FREM2_HUMAN T2326I Polymorphism FRK_HUMAN G122R Polymorphism FSHB_HUMAN S20I Polymorphism FSHR_HUMAN D567N Disease FSHR_HUMAN N680S Polymorphism FSHR_HUMAN S524R Polymorphism FSHR_HUMAN T307A Polymorphism FTCD_HUMAN A438E Polymorphism FUCO2_HUMAN V356M Polymorphism FUCO2_HUMAN Y371H Polymorphism FUCO_HUMAN C264S Polymorphism FUCO_HUMAN L405R Disease FUCO_HUMAN Q281R Polymorphism FUK_HUMAN R571H Polymorphism FUMH_HUMAN A308T Disease FUMH_HUMAN N107T Disease FUT1_HUMAN E348K Polymorphism FUT2_HUMAN D172N Polymorphism FUT2_HUMAN G258S Polymorphism FUT2_HUMAN I25V Polymorphism FUT3_HUMAN G170S Polymorphism FUT3_HUMAN R327Q Polymorphism FUT5_HUMAN P187L Polymorphism FXL13_HUMAN M74I Polymorphism FXR1_HUMAN N429D Polymorphism FYN_HUMAN I444F Polymorphism G3P2_HUMAN A21G Polymorphism G3ST4_HUMAN R353Q Polymorphism G6PD_HUMAN G409D Disease G6PD_HUMAN N125D Polymorphism G6PD_HUMAN V393L Disease G6PI_HUMAN D538N Disease G6PI_HUMAN I207T Polymorphism G6PI_HUMAN L486F Disease G6PI_HUMAN L516V Disease G6PI_HUMAN R346C Disease G6PI_HUMAN R346H Disease G6PI_HUMAN R471H Disease G6PI_HUMAN T194I Disease G6PI_HUMAN T4I Disease G6PI_HUMAN V100M Disease G6PT1_HUMAN G149E Disease G6PT_HUMAN W156L Disease GA45G_HUMAN G112S Polymorphism GA6S_HUMAN A231G Polymorphism GA6S_HUMAN A257T Disease GA6S_HUMAN A291D Disease GA6S_HUMAN A291T Disease GA6S_HUMAN A393S Polymorphism GA6S_HUMAN D60N Disease GA6S_HUMAN E185G Disease GA6S_HUMAN F284V Disease GA6S_HUMAN F346L Disease GA6S_HUMAN F97V Disease GA6S_HUMAN G168R Disease GA6S_HUMAN G247D Disease GA6S_HUMAN G301C Disease GA6S_HUMAN G309R Disease GA6S_HUMAN H166Q Disease GA6S_HUMAN I113F Disease GA6S_HUMAN I178V Polymorphism GA6S_HUMAN L395P Disease GA6S_HUMAN L395V Disease GA6S_HUMAN L67M Disease GA6S_HUMAN M391V Disease GA6S_HUMAN M494V Disease GA6S_HUMAN N204K Disease GA6S_HUMAN N407H Disease GA6S_HUMAN N487S Disease GA6S_HUMAN P151S Disease GA6S_HUMAN P179H Disease GA6S_HUMAN P179L Disease GA6S_HUMAN P77R Disease GA6S_HUMAN Q111R Disease GA6S_HUMAN R259Q Disease GA6S_HUMAN R361G Disease GA6S_HUMAN R376Q Disease GA6S_HUMAN R386C Disease GA6S_HUMAN R94G Disease GA6S_HUMAN T312S Disease GA6S_HUMAN V138A Disease GA6S_HUMAN V488M Polymorphism GA6S_HUMAN W409S Disease GABPA_HUMAN E345K Polymorphism GABR1_HUMAN G489S Polymorphism GABR2_HUMAN Y628F Polymorphism GABT_HUMAN Q56R Polymorphism GABT_HUMAN R220K Disease GALC_HUMAN T96A Disease GALE_HUMAN A180V Polymorphism GALE_HUMAN D103G Disease GALE_HUMAN G319E Disease GALE_HUMAN K257R Disease GALE_HUMAN N34S Disease GALK1_HUMAN A198V Disease GALK1_HUMAN G274D Polymorphism GALK1_HUMAN G349S Disease GALK1_HUMAN H44Y Disease GALK1_HUMAN R68C Disease GALK1_HUMAN V338A Polymorphism GALR1_HUMAN N334S Polymorphism GALR1_HUMAN P342L Polymorphism GALT2_HUMAN V554M Polymorphism GALT4_HUMAN I270T Polymorphism GALT4_HUMAN V506I Polymorphism GALT6_HUMAN V423I Polymorphism GALT8_HUMAN A337V Polymorphism GALT8_HUMAN D438G Polymorphism GALT8_HUMAN E267G Polymorphism GALT8_HUMAN F312S Polymorphism GALT8_HUMAN V515F Polymorphism GALT_HUMAN A199T Disease GALT_HUMAN A81T Disease GALT_HUMAN D113N Disease GALT_HUMAN E291K Disease GALT_HUMAN E308K Disease GALT_HUMAN F194L Disease GALT_HUMAN H114L Disease GALT_HUMAN K127E Disease GALT_HUMAN K229N Disease GALT_HUMAN L139P Disease GALT_HUMAN L217P Disease GALT_HUMAN L282V Disease GALT_HUMAN L74P Disease GALT_HUMAN M336L Disease GALT_HUMAN N314D Polymorphism GALT_HUMAN P183T Disease GALT_HUMAN Q118H Disease GALT_HUMAN Q317H Disease GALT_HUMAN Q317R Disease GALT_HUMAN Q38P Disease GALT_HUMAN R123Q Disease GALT_HUMAN R148G Disease GALT_HUMAN R262P Disease GALT_HUMAN R67C Disease GALT_HUMAN S135L Disease GALT_HUMAN S192N Disease GALT_HUMAN V125A Disease GALT_HUMAN V150L Disease GALT_HUMAN V151A Disease GALT_HUMAN V44M Disease GALT_HUMAN Y323H Disease GANAB_HUMAN R173Q Polymorphism GANC_HUMAN D443E Polymorphism GANC_HUMAN F845S Polymorphism GANC_HUMAN Q848R Polymorphism GANC_HUMAN R44Q Polymorphism GAN_HUMAN E486K Disease GAN_HUMAN G368R Disease GAN_HUMAN I86F Disease GAN_HUMAN L309R Disease GAN_HUMAN R138H Disease GAN_HUMAN R15S Disease GAN_HUMAN R269Q Disease GAN_HUMAN S79L Disease GAS8_HUMAN E199K Polymorphism GASR_HUMAN R319Q Polymorphism GATA1_HUMAN D218G Disease GATM_HUMAN Q110H Polymorphism GBA3_HUMAN C354R Polymorphism GBA3_HUMAN D106N Polymorphism GBA3_HUMAN R213P Polymorphism GBB3_HUMAN D76N Polymorphism GBB3_HUMAN G272S Polymorphism GBGT1_HUMAN L20F Polymorphism GBP1_HUMAN S349T Polymorphism GBRP_HUMAN F391L Polymorphism GCDH_HUMAN A122V Disease GCDH_HUMAN A293T Disease GCDH_HUMAN A298T Polymorphism GCDH_HUMAN A298V Polymorphism GCDH_HUMAN A349T Disease GCDH_HUMAN A382T Disease GCDH_HUMAN A421T Disease GCDH_HUMAN A421V Disease GCDH_HUMAN A433E Disease GCDH_HUMAN C308S Disease GCDH_HUMAN E365K Disease GCDH_HUMAN F236L Disease GCDH_HUMAN G101R Disease GCDH_HUMAN G354R Disease GCDH_HUMAN G354S Disease GCDH_HUMAN G390A Disease GCDH_HUMAN H403R Disease GCDH_HUMAN L309W Disease GCDH_HUMAN M191T Disease GCDH_HUMAN N392D Disease GCDH_HUMAN P278S Disease GCDH_HUMAN R138G Disease GCDH_HUMAN R161Q Disease GCDH_HUMAN R257Q Disease GCDH_HUMAN R257W Disease GCDH_HUMAN R313W Disease GCDH_HUMAN R355C Disease GCDH_HUMAN R355H Disease GCDH_HUMAN R383H Disease GCDH_HUMAN R386Q Disease GCDH_HUMAN R402Q Disease GCDH_HUMAN R94L Disease GCDH_HUMAN S139L Disease GCDH_HUMAN S305L Disease GCDH_HUMAN T429M Disease GCDH_HUMAN V148I Disease GCDH_HUMAN V400M Disease GCH1_HUMAN D115N Disease GCH1_HUMAN K224R Disease GCH1_HUMAN M211I Disease GCH1_HUMAN M213V Disease GCH1_HUMAN R184H Disease GCH1_HUMAN R249S Disease GCH1_HUMAN S176T Disease GCH1_HUMAN V191I Disease GCKR_HUMAN R540Q Polymorphism GCP60_HUMAN E186D Polymorphism GCR_HUMAN D641V Disease GCR_HUMAN F29L Polymorphism GCR_HUMAN G679S Disease GCR_HUMAN I559N Disease GCR_HUMAN I747M Disease GCR_HUMAN L753F Disease GCR_HUMAN N363S Polymorphism GCR_HUMAN V729I Disease GCS1_HUMAN D239N Polymorphism GCSH_HUMAN N73S Polymorphism GCST_HUMAN E211K Disease GCST_HUMAN G47R Disease GCST_HUMAN H42R Disease GCYB2_HUMAN N316H Polymorphism GDAP1_HUMAN R120Q Disease GDE_HUMAN E1343K Polymorphism GDE_HUMAN G1115R Polymorphism GDE_HUMAN R387Q Polymorphism GDF8_HUMAN A55T Polymorphism GDF8_HUMAN K153R Polymorphism GELS_HUMAN D214N Disease GELS_HUMAN D214Y Disease GFAP_HUMAN A244V Disease GFAP_HUMAN D78E Disease GFAP_HUMAN E223Q Disease GFAP_HUMAN E362D Disease GFAP_HUMAN P47L Disease GFAP_HUMAN R239H Disease GFAP_HUMAN R79C Disease GFI1_HUMAN K403R Disease GFI1_HUMAN N382S Disease GFPT2_HUMAN I470V Polymorphism GGABP_HUMAN M261V Polymorphism GGT1_HUMAN A177V Polymorphism GGT1_HUMAN A272V Polymorphism GGT1_HUMAN K52E Polymorphism GHC1_HUMAN P206L Disease GHRHR_HUMAN A176V Disease GHR_HUMAN C440F Disease GHR_HUMAN D170H Disease GHR_HUMAN E242D Disease GHR_HUMAN I544L Polymorphism GHR_HUMAN R179H Polymorphism GHR_HUMAN R229H Disease GHR_HUMAN R89K Disease GHR_HUMAN V162D Disease GHR_HUMAN V162I Disease GIDRP_HUMAN H656R Polymorphism GIMA2_HUMAN H161R Polymorphism GIMA4_HUMAN E128D Polymorphism GIP_HUMAN S103G Polymorphism GIPR_HUMAN A207V Polymorphism GIPR_HUMAN E354Q Polymorphism GIPR_HUMAN L262V Polymorphism GLCM_HUMAN A229E Disease GLCM_HUMAN A357D Disease GLCM_HUMAN A380T Disease GLCM_HUMAN A495P Disease GLCM_HUMAN D179H Disease GLCM_HUMAN D419A Disease GLCM_HUMAN D438N Disease GLCM_HUMAN D448H Disease GLCM_HUMAN D448V Disease GLCM_HUMAN E365K Disease GLCM_HUMAN E80K Disease GLCM_HUMAN F252I Disease GLCM_HUMAN F255Y Disease GLCM_HUMAN F298L Disease GLCM_HUMAN F450I Disease GLCM_HUMAN G152E Disease GLCM_HUMAN G234E Disease GLCM_HUMAN G241E Disease GLCM_HUMAN G241R Disease GLCM_HUMAN G304D Disease GLCM_HUMAN G364R Disease GLCM_HUMAN G517S Disease GLCM_HUMAN H294Q Disease GLCM_HUMAN I158T Disease GLCM_HUMAN I441T Disease GLCM_HUMAN L483P Disease GLCM_HUMAN N227K Disease GLCM_HUMAN N227S Disease GLCM_HUMAN N409S Disease GLCM_HUMAN P161S Disease GLCM_HUMAN P198L Disease GLCM_HUMAN P217S Disease GLCM_HUMAN P305R Disease GLCM_HUMAN P328L Disease GLCM_HUMAN P426L Disease GLCM_HUMAN P430L Disease GLCM_HUMAN P440L Disease GLCM_HUMAN R159W Disease GLCM_HUMAN R209P Disease GLCM_HUMAN R392G Disease GLCM_HUMAN R398Q Disease GLCM_HUMAN R87W Disease GLCM_HUMAN S146L Disease GLCM_HUMAN S235P Disease GLCM_HUMAN S310N Disease GLCM_HUMAN S403T Disease GLCM_HUMAN S405G Disease GLCM_HUMAN T362I Disease GLCM_HUMAN V230G Disease GLCM_HUMAN V391L Disease GLCM_HUMAN V414L Disease GLCM_HUMAN V433L Disease GLCM_HUMAN V437L Disease GLCM_HUMAN W223R Disease GLCM_HUMAN W351C Disease GLCM_HUMAN W432R Disease GLCM_HUMAN Y244C Disease GLCM_HUMAN Y343C Disease GLCM_HUMAN Y352H Disease GLCNE_HUMAN A460V Disease GLCNE_HUMAN A600T Disease GLCNE_HUMAN A630T Disease GLCNE_HUMAN A631T Disease GLCNE_HUMAN A631V Disease GLCNE_HUMAN C303V Disease GLCNE_HUMAN D225N Disease GLCNE_HUMAN G206S Disease GLCNE_HUMAN G576E Disease GLCNE_HUMAN I200F Disease GLCNE_HUMAN I557T Disease GLCNE_HUMAN I587T Disease GLCNE_HUMAN P27S Disease GLCNE_HUMAN P36L Disease GLCNE_HUMAN R246Q Disease GLCNE_HUMAN R263L Disease GLCNE_HUMAN R266Q Disease GLCNE_HUMAN R306Q Disease GLCNE_HUMAN V216A Disease GLCNE_HUMAN V572L Disease GLCNE_HUMAN Y675H Disease GLE1_HUMAN G130D Polymorphism GLE1_HUMAN I243V Polymorphism GLE1_HUMAN R590Q Polymorphism GLGB_HUMAN L224P Disease GLGB_HUMAN R190G Polymorphism GLGB_HUMAN R524Q Disease GLI1_HUMAN E1100Q Polymorphism GLI1_HUMAN G933D Polymorphism GLI3_HUMAN C515G Disease GLI3_HUMAN D440E Polymorphism GLP1R_HUMAN A316T Polymorphism GLP1R_HUMAN F260L Polymorphism GLP1R_HUMAN G168S Polymorphism GLP1R_HUMAN R131Q Polymorphism GLP1R_HUMAN R421Q Polymorphism GLP1R_HUMAN R44H Polymorphism GLPB_HUMAN T48M Polymorphism GLPK_HUMAN A376T Polymorphism GLPK_HUMAN N232H Polymorphism GLPK_HUMAN S185N Polymorphism GLPT_HUMAN D247N Polymorphism GLPT_HUMAN I414V Polymorphism GLRA1_HUMAN K304E Disease GLRA1_HUMAN P278T Disease GLRA1_HUMAN Q294H Disease GLRA1_HUMAN R299L Disease GLRA1_HUMAN R299Q Disease GLRA1_HUMAN Y307C Disease GLR_HUMAN G40S Polymorphism GLR_HUMAN P114A Polymorphism GLT11_HUMAN D197Y Polymorphism GLT12_HUMAN V119E Polymorphism GLT15_HUMAN R124C Polymorphism GLTL2_HUMAN H510Y Polymorphism GLUC_HUMAN A115V Polymorphism GLYG2_HUMAN V270A Polymorphism GMPR1_HUMAN F256I Polymorphism GNA13_HUMAN V221L Polymorphism GNAS_HUMAN P115L Disease GNAS_HUMAN Q227R Disease GNAS_HUMAN R165C Disease GNAS_HUMAN R258W Disease GNAS_HUMAN R385H Disease GNL3_HUMAN Q39R Polymorphism GNRHR_HUMAN A171T Disease GNRHR_HUMAN N10K Disease GNRHR_HUMAN Q106R Disease GNRHR_HUMAN S217R Disease GP154_HUMAN N107I Polymorphism GP154_HUMAN Q344R Polymorphism GP154_HUMAN S241R Polymorphism GP1BA_HUMAN L86F Polymorphism GP1BA_HUMAN R72H Polymorphism GP1BA_HUMAN T161M Polymorphism GPA33_HUMAN D20N Polymorphism GPC4_HUMAN A442V Polymorphism GPC4_HUMAN E391D Polymorphism GPC6A_HUMAN P91S Polymorphism GPM6A_HUMAN V242L Polymorphism GPR10_HUMAN V283I Polymorphism GPR15_HUMAN P37S Polymorphism GPR1_HUMAN I307V Polymorphism GPR32_HUMAN F327L Polymorphism GPR35_HUMAN R125S Polymorphism GPR35_HUMAN S294R Polymorphism GPR35_HUMAN T108M Polymorphism GPR35_HUMAN T253M Polymorphism GPR39_HUMAN A50V Polymorphism GPR40_HUMAN R211H Polymorphism GPR43_HUMAN L211H Polymorphism GPR56_HUMAN Q306H Polymorphism GPR56_HUMAN S281R Polymorphism GPR8_HUMAN R206Q Polymorphism GPT_HUMAN I393V Polymorphism GPX1_HUMAN A192T Polymorphism GPX2_HUMAN I176M Polymorphism GPX2_HUMAN P126L Polymorphism GPX2_HUMAN R146C Polymorphism GPX4_HUMAN A120T Disease GPX5_HUMAN L85V Polymorphism GRAB_HUMAN Q55R Polymorphism GRAB_HUMAN Y247H Polymorphism GRAH_HUMAN R84Q Polymorphism GRAP2_HUMAN L319F Polymorphism GRID1_HUMAN V529I Polymorphism GRIK1_HUMAN A332V Polymorphism GRIK1_HUMAN I757V Polymorphism GRIK1_HUMAN R862Q Polymorphism GRIK3_HUMAN A310S Polymorphism GRK4_HUMAN V247I Polymorphism GRN_HUMAN G515A Polymorphism GSCR2_HUMAN R389Q Polymorphism GSHB_HUMAN L254R Disease GSHR_HUMAN E297D Polymorphism GSHR_HUMAN G232S Polymorphism GSHR_HUMAN I261V Polymorphism GSHR_HUMAN P314H Polymorphism GSTA2_HUMAN E209A Polymorphism GSTA2_HUMAN P109S Polymorphism GSTA2_HUMAN T111S Polymorphism GSTA2_HUMAN V148A Polymorphism GSTA4_HUMAN T163A Polymorphism GSTM1_HUMAN K172N Polymorphism GSTM1_HUMAN S209T Polymorphism GSTM3_HUMAN V223I Polymorphism GSTO1_HUMAN A140D Polymorphism GSTO2_HUMAN N142D Polymorphism GSTP1_HUMAN A113V Polymorphism GSTP1_HUMAN I104V Polymorphism GSTT1_HUMAN A20T Polymorphism GSTT1_HUMAN D140N Polymorphism GSTT1_HUMAN E172K Polymorphism GSTT1_HUMAN V168I Polymorphism GT2D1_HUMAN M652V Polymorphism GTR2_HUMAN L389P Disease GTR2_HUMAN L478V Polymorphism GTR2_HUMAN P68L Polymorphism GTR2_HUMAN T110I Polymorphism GTR2_HUMAN V101I Polymorphism GTR4_HUMAN A358V Polymorphism GTR4_HUMAN I385T Polymorphism GTR4_HUMAN T78S Polymorphism GTR4_HUMAN V383I Disease GTR9_HUMAN L350P Polymorphism GTR9_HUMAN R25G Polymorphism GTR9_HUMAN R294H Polymorphism GTR9_HUMAN V282I Polymorphism GUC1A_HUMAN P49L Disease GUC1B_HUMAN E154D Polymorphism GUC2D_HUMAN A362S Disease GUC2D_HUMAN A52S Disease GUC2D_HUMAN E837D Disease GUC2D_HUMAN F565S Disease GUC2D_HUMAN I573V Disease GUC2D_HUMAN L782H Polymorphism GUC2D_HUMAN P701S Disease GUC2D_HUMAN P858S Disease GUC2D_HUMAN R838H Disease GUC2F_HUMAN Q296R Polymorphism GUP1_HUMAN M403V Polymorphism GYS1_HUMAN M416V Polymorphism HA23_HUMAN Q57E Polymorphism HABP2_HUMAN E393Q Polymorphism HABP2_HUMAN V90I Polymorphism HAIR_HUMAN T1022A Disease HAPIP_HUMAN E1326D Polymorphism HB21_HUMAN D167G Polymorphism HBA_HUMAN N68K Polymorphism HBG1_HUMAN I75T Polymorphism HCD2_HUMAN L121V Disease HCDH_HUMAN A40T Disease HCDH_HUMAN D57E Disease HCDH_HUMAN P258L Disease HEATR_HUMAN E2017G Polymorphism HEATR_HUMAN N1694S Polymorphism HEATR_HUMAN V1854A Polymorphism HEM0_HUMAN R204Q Disease HEM0_HUMAN R448Q Disease HEM0_HUMAN T388S Disease HEM2_HUMAN K59N Polymorphism HEM2_HUMAN V153M Disease HEM3_HUMAN A252T Disease HEM3_HUMAN A252V Disease HEM3_HUMAN A270D Disease HEM3_HUMAN A270G Disease HEM3_HUMAN A55S Disease HEM3_HUMAN D178N Disease HEM3_HUMAN E209K Disease HEM3_HUMAN G280R Disease HEM3_HUMAN H256N Disease HEM3_HUMAN H256Y Disease HEM3_HUMAN L245R Disease HEM3_HUMAN R195C Disease HEM3_HUMAN R225G Disease HEM3_HUMAN T269I Disease HEM3_HUMAN V202L Disease HEM3_HUMAN V222M Disease HEM4_HUMAN A66V Disease HEM4_HUMAN A69T Disease HEM4_HUMAN G188R Disease HEM4_HUMAN T62A Disease HEM6_HUMAN G189S Disease HEM6_HUMAN H295D Disease HEM6_HUMAN L214R Disease HEM6_HUMAN N272H Polymorphism HEM6_HUMAN V294I Polymorphism HEMH_HUMAN I186T Disease HEMH_HUMAN M267I Disease HEMH_HUMAN R96Q Polymorphism HEP2_HUMAN A7T Polymorphism HEP2_HUMAN K237R Polymorphism HEP2_HUMAN R208H Disease HEP2_HUMAN T442M Polymorphism HES6_HUMAN R218Q Polymorphism HESX1_HUMAN N125S Polymorphism HEXA_HUMAN D314V Disease HEXA_HUMAN G250S Disease HEXA_HUMAN G269S Disease HEXA_HUMAN G455R Disease HEXA_HUMAN H204R Disease HEXA_HUMAN L127R Disease HEXA_HUMAN L484Q Disease HEXA_HUMAN N196S Disease HEXA_HUMAN N295S Disease HEXA_HUMAN N399D Polymorphism HEXA_HUMAN R178H Disease HEXA_HUMAN R252H Disease HEXA_HUMAN R252L Disease HEXA_HUMAN R504C Disease HEXA_HUMAN S279P Disease HEXA_HUMAN V192L Disease HEXA_HUMAN V436I Polymorphism HEXA_HUMAN W420C Disease HEXA_HUMAN Y180H Disease HEXB_HUMAN A543T Disease HEXB_HUMAN C309Y Disease HEXB_HUMAN C534Y Disease HEXB_HUMAN I207V Polymorphism HEXB_HUMAN K121R Polymorphism HEXB_HUMAN P417L Disease HEXB_HUMAN Y456S Disease HFE_HUMAN E277K Polymorphism HFE_HUMAN G93R Disease HFE_HUMAN I105T Disease HFE_HUMAN Q127H Disease HFE_HUMAN R330M Disease HFE_HUMAN V59M Polymorphism HGD_HUMAN I216T Disease HGD_HUMAN M368V Disease HGF_HUMAN E304K Polymorphism HGF_HUMAN S153I Polymorphism HGFL_HUMAN E676K Polymorphism HGFL_HUMAN Y13C Polymorphism HHIP_HUMAN I341V Polymorphism HIP1R_HUMAN V782M Polymorphism HLAE_HUMAN G104R Polymorphism HLAE_HUMAN R128G Polymorphism HLAF_HUMAN S272P Polymorphism HLXB9_HUMAN T248S Disease HMDH_HUMAN I638V Polymorphism HMGCL_HUMAN D42E Disease HMGCL_HUMAN V70L Disease HMOX2_HUMAN R137Q Polymorphism HNF1A_HUMAN K117E Disease HNF1A_HUMAN S487N Polymorphism HNF3A_HUMAN A72G Polymorphism HNF3A_HUMAN R186Q Polymorphism HNF4A_HUMAN T130I Polymorphism HNF4G_HUMAN I190M Polymorphism HNF6_HUMAN P75A Polymorphism HNRPU_HUMAN L711F Polymorphism HOME3_HUMAN S342R Polymorphism HOOK2_HUMAN H488Q Polymorphism HPPD_HUMAN A32T Polymorphism HPPD_HUMAN I266F Polymorphism HPPD_HUMAN V339L Polymorphism HPRT_HUMAN A160S Disease HPRT_HUMAN C205Y Disease HPRT_HUMAN D134G Disease HPRT_HUMAN D193E Disease HPRT_HUMAN D193N Disease HPRT_HUMAN D200G Disease HPRT_HUMAN D200N Disease HPRT_HUMAN D200Y Disease HPRT_HUMAN F73L Disease HPRT_HUMAN G57R Disease HPRT_HUMAN H203D Disease HPRT_HUMAN I131M Disease HPRT_HUMAN L77V Disease HPRT_HUMAN M53L Disease HPRT_HUMAN M56T Disease HPRT_HUMAN P175L Disease HPRT_HUMAN R44K Disease HPRT_HUMAN R50G Disease HPRT_HUMAN S103R Disease HPRT_HUMAN T167I Disease HPRT_HUMAN V52A Disease HPRT_HUMAN V52M Disease HPRT_HUMAN Y194C Disease HPS1_HUMAN Q603R Polymorphism HPS4_HUMAN Q625H Polymorphism HPS5_HUMAN L417M Polymorphism HPSE2_HUMAN F579Y Polymorphism HPT_HUMAN D397H Polymorphism HPT_HUMAN E194K Polymorphism HPT_HUMAN N193D Polymorphism HPTR_HUMAN D339H Polymorphism HRG_HUMAN P204S Polymorphism HRH2_HUMAN K231R Polymorphism HRH2_HUMAN N217D Polymorphism HRH2_HUMAN V268M Polymorphism HRX_HUMAN G30A Polymorphism HRX_HUMAN V3714I Polymorphism HS70L_HUMAN T493M Polymorphism HSF4_HUMAN I87V Disease HSPB1_HUMAN S135F Disease HUTH_HUMAN P259L Disease HUTH_HUMAN R206T Disease HUTH_HUMAN R208L Disease HUTH_HUMAN V439I Polymorphism HXA1_HUMAN H73R Polymorphism HXK1_HUMAN L776M Polymorphism HXK1_HUMAN T680S Disease HXK2_HUMAN A314V Polymorphism HXK2_HUMAN A387S Polymorphism HXK2_HUMAN D881N Polymorphism HXK2_HUMAN L148F Polymorphism HXK2_HUMAN Q142H Polymorphism HXK2_HUMAN R497Q Polymorphism HXK2_HUMAN R775Q Polymorphism HXK2_HUMAN R801Q Polymorphism HXK2_HUMAN R844K Polymorphism HXK4_HUMAN A11T Polymorphism HXK4_HUMAN A188T Disease HXK4_HUMAN A384T Disease HXK4_HUMAN A53S Disease HXK4_HUMAN C213R Disease HXK4_HUMAN C382Y Disease HXK4_HUMAN E221K Disease HXK4_HUMAN E279Q Disease HXK4_HUMAN E70K Disease HXK4_HUMAN G175R Disease HXK4_HUMAN G261R Disease HXK4_HUMAN G385V Disease HXK4_HUMAN G80S Disease HXK4_HUMAN H137R Disease HXK4_HUMAN I110T Disease HXK4_HUMAN K414E Disease HXK4_HUMAN L309P Disease HXK4_HUMAN M107T Polymorphism HXK4_HUMAN R392C Disease HXK4_HUMAN S336L Disease HXK4_HUMAN T228M Disease HXK4_HUMAN V203A Disease HXK4_HUMAN V226M Disease HXK4_HUMAN V367M Disease HXK4_HUMAN V455M Disease HXK4_HUMAN Y108H Disease HYAL1_HUMAN E268K Disease HYEP_HUMAN E44Q Polymorphism HYEP_HUMAN H139R Polymorphism HYEP_HUMAN L260P Polymorphism HYEP_HUMAN R43T Polymorphism HYEP_HUMAN R454Q Polymorphism HYEP_HUMAN T396I Polymorphism HYEP_HUMAN V285L Polymorphism HYEP_HUMAN Y113H Polymorphism HYES_HUMAN R287Q Polymorphism I10R1_HUMAN V113I Polymorphism I11RA_HUMAN P65T Polymorphism I12R1_HUMAN G378R Polymorphism I12R1_HUMAN M365T Polymorphism I12R1_HUMAN Q214R Polymorphism I12R2_HUMAN A625V Polymorphism I12R2_HUMAN G420R Polymorphism I12R2_HUMAN G465D Polymorphism I12R2_HUMAN H720R Polymorphism I12R2_HUMAN I185V Polymorphism I12R2_HUMAN M13V Polymorphism I12R2_HUMAN T201I Polymorphism I15RA_HUMAN N182T Polymorphism I17RC_HUMAN L182S Polymorphism I17RD_HUMAN M255T Polymorphism I17RD_HUMAN V301M Polymorphism IBP3_HUMAN H158P Polymorphism IC1_HUMAN A456E Disease IC1_HUMAN A458T Disease IC1_HUMAN A458V Disease IC1_HUMAN A465V Disease IC1_HUMAN G429R Disease IC1_HUMAN Q474E Polymorphism IC1_HUMAN R466C Disease IC1_HUMAN R466H Disease IC1_HUMAN R466L Disease IC1_HUMAN R466S Disease IC1_HUMAN T308S Polymorphism IC1_HUMAN T467P Disease IC1_HUMAN V454E Disease IC1_HUMAN V473M Disease IC1_HUMAN V480M Polymorphism ICAL_HUMAN C408S Polymorphism ICAL_HUMAN G592E Polymorphism ICAM1_HUMAN G241R Polymorphism ICAM1_HUMAN K469E Polymorphism ICAM2_HUMAN R199H Polymorphism ICLN_HUMAN Q20H Polymorphism IDH3B_HUMAN V3A Polymorphism IDS_HUMAN A346D Disease IDS_HUMAN A346V Disease IDS_HUMAN A68E Disease IDS_HUMAN A85T Disease IDS_HUMAN C184F Disease IDS_HUMAN C184W Disease IDS_HUMAN D198G Disease IDS_HUMAN D252N Disease IDS_HUMAN D269V Disease IDS_HUMAN E341K Disease IDS_HUMAN E434K Disease IDS_HUMAN G224E Disease IDS_HUMAN H159P Disease IDS_HUMAN H229Y Disease IDS_HUMAN H342Y Disease IDS_HUMAN I485K Disease IDS_HUMAN K135R Disease IDS_HUMAN K227Q Disease IDS_HUMAN K347T Disease IDS_HUMAN L196S Disease IDS_HUMAN N115Y Disease IDS_HUMAN P120H Disease IDS_HUMAN P160R Disease IDS_HUMAN P228L Disease IDS_HUMAN P266H Disease IDS_HUMAN P266R Disease IDS_HUMAN P86Q Disease IDS_HUMAN S132W Disease IDS_HUMAN S349I Disease IDS_HUMAN S87N Disease IDS_HUMAN T118I Disease IDS_HUMAN Y108C Disease IDS_HUMAN Y264N Disease IDS_HUMAN Y348H Disease IDS_HUMAN Y54D Disease IDUA_HUMAN A361T Polymorphism IDUA_HUMAN F602I Disease IDUA_HUMAN P496L Disease IDUA_HUMAN R105Q Polymorphism IDUA_HUMAN T388R Disease IDUA_HUMAN V454I Polymorphism IF2G_HUMAN K124R Polymorphism IF2M_HUMAN I556V Polymorphism IFIH1_HUMAN R843H Polymorphism IFIT2_HUMAN D352E Polymorphism IFM2_HUMAN T41M Polymorphism IFN17_HUMAN I184R Polymorphism IFNA1_HUMAN A137V Polymorphism IFNA4_HUMAN A74T Polymorphism IFNA4_HUMAN E137V Polymorphism IFNA8_HUMAN E137K Polymorphism IFNG_HUMAN R160Q Polymorphism IFNW1_HUMAN R95S Polymorphism IGHA1_HUMAN E176D Polymorphism IGHA2_HUMAN D296E Polymorphism IGHA2_HUMAN F279Y Polymorphism IGHA2_HUMAN P102R Polymorphism IGHA2_HUMAN P93S Polymorphism IGHA2_HUMAN V326I Polymorphism IGHA2_HUMAN V335A Polymorphism IKKA_HUMAN I268V Polymorphism IL10_HUMAN G15R Disease IL12B_HUMAN V33I Polymorphism IL16_HUMAN R188Q Polymorphism IL19_HUMAN S175F Polymorphism IL1A_HUMAN N125D Polymorphism IL1F7_HUMAN D218N Polymorphism IL1F7_HUMAN G31V Polymorphism IL1F7_HUMAN P108L Polymorphism IL1F7_HUMAN T42A Polymorphism IL1F7_HUMAN W164R Polymorphism IL1FA_HUMAN A51D Polymorphism IL1R1_HUMAN A124G Polymorphism IL1R2_HUMAN E181K Polymorphism IL24_HUMAN Y124H Polymorphism IL2RB_HUMAN D391E Polymorphism IL2RB_HUMAN S83F Polymorphism IL2RG_HUMAN E109K Polymorphism IL2RG_HUMAN H123P Disease IL3_HUMAN P27S Polymorphism IL3RA_HUMAN S123T Polymorphism IL3RA_HUMAN V323L Polymorphism IL3RB_HUMAN V652M Polymorphism IL4_HUMAN C27R Polymorphism IL4RA_HUMAN E400A Polymorphism IL4RA_HUMAN I75V Polymorphism IL4RA_HUMAN Q576R Polymorphism IL4RA_HUMAN S436L Polymorphism IL5RA_HUMAN I129V Polymorphism IL6_HUMAN D162V Polymorphism IL7RA_HUMAN I138V Polymorphism IL9_HUMAN T117M Polymorphism ILF3_HUMAN D50H Polymorphism ILRL1_HUMAN A78E Polymorphism IMA2_HUMAN T430P Polymorphism IMA3_HUMAN P291S Polymorphism IMB3_HUMAN E525K Polymorphism IMB3_HUMAN E549K Polymorphism IMB3_HUMAN L286I Polymorphism IMB3_HUMAN T969I Polymorphism IMDH1_HUMAN D226N Disease IMDH1_HUMAN V268I Disease INAR1_HUMAN L168V Polymorphism INAR1_HUMAN T359M Polymorphism INAR2_HUMAN F8S Polymorphism INAR2_HUMAN I196V Polymorphism ING1_HUMAN N359S Disease INGR1_HUMAN L467P Polymorphism INGR2_HUMAN R64Q Polymorphism INMT_HUMAN V205M Polymorphism INP4B_HUMAN F311Y Polymorphism INPP_HUMAN T228A Polymorphism INS_HUMAN H34D Disease INS_HUMAN R89L Disease INSL3_HUMAN R102H Polymorphism INSR_HUMAN A1055V Disease INSR_HUMAN A119V Disease INSR_HUMAN C280Y Disease INSR_HUMAN C301Y Disease INSR_HUMAN D86G Disease INSR_HUMAN I1023F Polymorphism INSR_HUMAN I1143T Disease INSR_HUMAN K487E Disease INSR_HUMAN K492Q Polymorphism INSR_HUMAN M1180I Disease INSR_HUMAN P1205L Disease INSR_HUMAN P220L Disease INSR_HUMAN P997T Disease INSR_HUMAN R1020Q Disease INSR_HUMAN R1191Q Disease INSR_HUMAN R1201Q Disease INSR_HUMAN R1378Q Disease INSR_HUMAN R762S Disease INSR_HUMAN T448I Polymorphism INSR_HUMAN T858A Disease INSR_HUMAN V1012M Polymorphism INSR_HUMAN V167L Disease INSR_HUMAN V55A Disease INVS_HUMAN P482R Disease IP3KB_HUMAN P552Q Polymorphism IPK1_HUMAN N34S Disease IPK1_HUMAN P55S Polymorphism IPSP_HUMAN A55V Polymorphism IPSP_HUMAN G217R Polymorphism IPSP_HUMAN G94V Polymorphism IPSP_HUMAN K105E Polymorphism IPSP_HUMAN N64S Polymorphism IPSP_HUMAN P121A Polymorphism IPSP_HUMAN S44G Polymorphism IPYR2_HUMAN K282N Polymorphism IRAK3_HUMAN V147I Polymorphism IRAK4_HUMAN A428T Polymorphism IRAK4_HUMAN H390R Polymorphism IRAK4_HUMAN S98R Polymorphism IRF3_HUMAN R96Q Polymorphism IRF3_HUMAN S427T Polymorphism IRF6_HUMAN D430N Disease IRF6_HUMAN F369S Disease IRF6_HUMAN G325E Disease IRF6_HUMAN N88H Disease IRF6_HUMAN Q273R Disease IRF6_HUMAN R250Q Disease IRF6_HUMAN V274I Polymorphism IRK10_HUMAN R271H Polymorphism IRK11_HUMAN E23K Polymorphism IRK11_HUMAN I337V Polymorphism IRK11_HUMAN L355P Disease IRK11_HUMAN R195H Polymorphism IRK13_HUMAN T175I Polymorphism IRK15_HUMAN G98D Polymorphism IRK1_HUMAN A214V Disease IRK1_HUMAN N124K Disease IRK1_HUMAN P110L Disease IRK1_HUMAN W99C Disease IRK2_HUMAN D172N Disease IRK2_HUMAN P186L Disease IRS1_HUMAN D1137N Polymorphism IRS1_HUMAN M209T Polymorphism IRS2_HUMAN G879S Polymorphism IRS2_HUMAN G882A Polymorphism ISK5_HUMAN K420E Polymorphism ITA11_HUMAN L972P Polymorphism ITA11_HUMAN M471L Polymorphism ITA11_HUMAN Q891K Polymorphism ITA11_HUMAN R524L Polymorphism ITA2B_HUMAN I874S Polymorphism ITA2B_HUMAN Q778P Disease ITA2B_HUMAN T40I Polymorphism ITA2_HUMAN K534E Polymorphism ITA2_HUMAN N927S Polymorphism ITA4_HUMAN R884Q Polymorphism ITA7_HUMAN H695R Polymorphism ITA8_HUMAN A994V Polymorphism ITA8_HUMAN I993V Polymorphism ITA8_HUMAN Q581P Polymorphism ITA8_HUMAN R748H Polymorphism ITA8_HUMAN S577F Polymorphism ITA8_HUMAN V216L Polymorphism ITAE_HUMAN D360E Polymorphism ITAE_HUMAN Q892H Polymorphism ITAX_HUMAN W48R Polymorphism ITB2_HUMAN G284S Disease ITB2_HUMAN K196T Disease ITB3_HUMAN G598S Disease ITB3_HUMAN L59P Polymorphism ITB3_HUMAN R169Q Polymorphism ITB3_HUMAN S188L Disease ITB3_HUMAN V453I Polymorphism ITB4_HUMAN H1216Q Polymorphism ITB4_HUMAN R1225H Disease ITLN1_HUMAN V109D Polymorphism ITM2C_HUMAN G53S Polymorphism ITPA_HUMAN P32T Disease ITSN2_HUMAN A1533T Polymorphism IVD_HUMAN A311V Disease IVD_HUMAN D69N Disease IVD_HUMAN G199V Disease IVD_HUMAN R411L Disease IVD_HUMAN V371A Disease JAD1C_HUMAN E698K Disease JAG1_HUMAN A127T Disease JAG1_HUMAN G274D Disease JAG1_HUMAN G386R Disease JAG1_HUMAN P163L Disease JAG1_HUMAN R184H Disease K0020_HUMAN R289P Polymorphism K0020_HUMAN V297L Polymorphism K0141_HUMAN A247T Polymorphism K0141_HUMAN F128L Polymorphism K0195_HUMAN I1040T Polymorphism K0319_HUMAN A311T Disease K0319_HUMAN T142P Polymorphism K0562_HUMAN A686V Polymorphism K0853_HUMAN E1429D Polymorphism K1199_HUMAN H783R Polymorphism K1404_HUMAN Q924H Polymorphism K1404_HUMAN T1351I Polymorphism K1683_HUMAN L235V Polymorphism K1683_HUMAN L44P Polymorphism K1683_HUMAN M359T Polymorphism K1683_HUMAN P908H Polymorphism K1683_HUMAN S285T Polymorphism K1849_HUMAN G884S Polymorphism K1C10_HUMAN R156C Disease K1C12_HUMAN Y429D Disease K1C14_HUMAN A246D Disease K1C14_HUMAN A273D Disease K1C14_HUMAN A412T Disease K1C14_HUMAN A93T Polymorphism K1C14_HUMAN D272G Disease K1C14_HUMAN E143A Disease K1C14_HUMAN L407M Disease K1C14_HUMAN M118V Disease K1C14_HUMAN M271R Disease K1C14_HUMAN Q119R Disease K1C14_HUMAN R124C Disease K1C14_HUMAN V269M Disease K1C16_HUMAN K353N Disease K1C16_HUMAN R126C Disease K1C17_HUMAN R93C Disease K1C17_HUMAN V101M Disease K1C18_HUMAN G339R Disease K1C18_HUMAN H127L Disease K1C18_HUMAN R260Q Disease K1C18_HUMAN S229T Polymorphism K1C18_HUMAN T102A Disease K1C9_HUMAN M157V Disease K1C9_HUMAN R163Q Disease K1H6_HUMAN T315M Polymorphism K22E_HUMAN E493D Disease K2C1_HUMAN D339V Disease K2C1_HUMAN I311V Polymorphism K2C1_HUMAN I329T Polymorphism K2C5_HUMAN A438D Disease K2C5_HUMAN D328V Disease K2C5_HUMAN E475G Disease K2C5_HUMAN K173N Disease K2C5_HUMAN K404E Disease K2C5_HUMAN M327K Disease K2C5_HUMAN M327T Disease K2C5_HUMAN N193K Disease K2C5_HUMAN P152L Disease K2C5_HUMAN R331C Disease K2C5_HUMAN V323A Disease K2C6B_HUMAN S226N Polymorphism K2C6B_HUMAN V364I Polymorphism K2C8_HUMAN I62V Polymorphism K6PF_HUMAN D542A Disease K6PF_HUMAN R38L Disease K6PF_HUMAN R695H Disease K6PF_HUMAN R99Q Disease K6PF_HUMAN W685C Disease K6PL_HUMAN G80A Polymorphism K6PL_HUMAN W150R Polymorphism KCC1G_HUMAN V329I Polymorphism KCMA1_HUMAN D434G Disease KCMB3_HUMAN L75V Polymorphism KCMB3_HUMAN T53A Polymorphism KCNA1_HUMAN E325D Disease KCNA1_HUMAN F249I Disease KCNA1_HUMAN L329I Disease KCNA1_HUMAN R204H Polymorphism KCNA1_HUMAN R239S Disease KCNA1_HUMAN T226A Disease KCNA1_HUMAN T226M Disease KCNA1_HUMAN V174F Disease KCNA1_HUMAN V404I Disease KCNA1_HUMAN V408A Disease KCNE1_HUMAN D85N Polymorphism KCNE1_HUMAN V109I Disease KCNH2_HUMAN A561T Disease KCNH2_HUMAN A561V Disease KCNH2_HUMAN D609N Disease KCNH2_HUMAN F627L Disease KCNH2_HUMAN F640L Disease KCNH2_HUMAN F805C Disease KCNH2_HUMAN F805S Disease KCNH2_HUMAN G572C Disease KCNH2_HUMAN G572R Disease KCNH2_HUMAN G584S Disease KCNH2_HUMAN G601S Disease KCNH2_HUMAN G604S Disease KCNH2_HUMAN G626S Disease KCNH2_HUMAN G628S Disease KCNH2_HUMAN I593R Disease KCNH2_HUMAN I593T Disease KCNH2_HUMAN L615V Disease KCNH2_HUMAN M645L Disease KCNH2_HUMAN N588D Disease KCNH2_HUMAN N588K Disease KCNH2_HUMAN N629D Disease KCNH2_HUMAN N629K Disease KCNH2_HUMAN N629S Disease KCNH2_HUMAN N633S Disease KCNH2_HUMAN P451L Disease KCNH2_HUMAN P632S Disease KCNH2_HUMAN P72Q Disease KCNH2_HUMAN R534C Disease KCNH2_HUMAN R582C Disease KCNH2_HUMAN S818L Disease KCNH2_HUMAN T436M Disease KCNH2_HUMAN T474I Disease KCNH2_HUMAN T613M Disease KCNH2_HUMAN V612L Disease KCNH2_HUMAN V630A Disease KCNH2_HUMAN V630L Disease KCNH2_HUMAN Y569H Disease KCNKF_HUMAN G95E Polymorphism KCNKF_HUMAN P260T Polymorphism KCNKF_HUMAN P323L Polymorphism KCNQ1_HUMAN A178P Disease KCNQ1_HUMAN A178T Disease KCNQ1_HUMAN A344V Disease KCNQ1_HUMAN D242N Disease KCNQ1_HUMAN E261D Disease KCNQ1_HUMAN E261K Disease KCNQ1_HUMAN G179S Disease KCNQ1_HUMAN G189R Disease KCNQ1_HUMAN G216R Disease KCNQ1_HUMAN G269S Disease KCNQ1_HUMAN L250H Disease KCNQ1_HUMAN L273F Disease KCNQ1_HUMAN L342F Disease KCNQ1_HUMAN R243H Disease KCNQ1_HUMAN R366Q Disease KCNQ1_HUMAN R366W Disease KCNQ1_HUMAN R594Q Disease KCNQ1_HUMAN S140G Disease KCNQ1_HUMAN S225L Disease KCNQ1_HUMAN S373P Disease KCNQ1_HUMAN V254M Disease KCNQ1_HUMAN V307L Disease KCNQ1_HUMAN V310I Disease KCNQ1_HUMAN V417M Disease KCNQ1_HUMAN Y184S Disease KCNQ2_HUMAN N780T Polymorphism KCNQ2_HUMAN Y284C Disease KCNQ4_HUMAN G321S Disease KCNS1_HUMAN I489V Polymorphism KCRM_HUMAN L127V Polymorphism KELL_HUMAN A163T Polymorphism KELL_HUMAN L597P Polymorphism KELL_HUMAN S726A Polymorphism KELL_HUMAN T193M Polymorphism KERA_HUMAN N247S Disease KERA_HUMAN T215K Disease KERA_HUMAN V235G Polymorphism KHK_HUMAN A43T Disease KHK_HUMAN R159G Polymorphism KI21A_HUMAN M356T Disease KI2L1_HUMAN D184N Polymorphism KI2L1_HUMAN H203R Polymorphism KI2L1_HUMAN K237E Polymorphism KI2L1_HUMAN P135L Polymorphism KI2L1_HUMAN P175T Polymorphism KI2L1_HUMAN P37R Polymorphism KI2L1_HUMAN R266C Polymorphism KI2L1_HUMAN V5F Polymorphism KI2L2_HUMAN R37P Polymorphism KI2L3_HUMAN A304T Polymorphism KI2L3_HUMAN H34Q Polymorphism KI2L3_HUMAN H71R Polymorphism KI2L3_HUMAN L32R Polymorphism KI2L3_HUMAN P229L Polymorphism KI2L3_HUMAN Q56E Polymorphism KI2L3_HUMAN R318H Polymorphism KI2L3_HUMAN V9A Polymorphism KI2L4_HUMAN A209P Polymorphism KI2L4_HUMAN D271N Polymorphism KI2L4_HUMAN H371N Polymorphism KI2L4_HUMAN L87V Polymorphism KI2L4_HUMAN T138A Polymorphism KI2L4_HUMAN Y53C Polymorphism KI2S1_HUMAN R91K Polymorphism KI2S2_HUMAN K237E Polymorphism KI3L1_HUMAN G259R Polymorphism KI3L1_HUMAN I68V Polymorphism KI3L1_HUMAN I75L Polymorphism KI3L1_HUMAN L13F Polymorphism KI3L1_HUMAN M23V Polymorphism KI3L1_HUMAN S2L Polymorphism KI3L2_HUMAN A228P Polymorphism KI3L2_HUMAN E158D Polymorphism KI3L2_HUMAN I252T Polymorphism KI3L2_HUMAN L113V Polymorphism KI3L2_HUMAN P40A Polymorphism KI3L2_HUMAN R166H Polymorphism KI3L3_HUMAN I168V Polymorphism KI3S1_HUMAN R166H Polymorphism KI67_HUMAN K3217E Polymorphism KI67_HUMAN T1247I Polymorphism KI67_HUMAN T3150S Polymorphism KIF17_HUMAN E933D Polymorphism KIF17_HUMAN M402V Polymorphism KIF9_HUMAN G96A Polymorphism KIF9_HUMAN V78I Polymorphism KIME_HUMAN A148T Disease KIME_HUMAN P167L Disease KIME_HUMAN S52N Polymorphism KIME_HUMAN V377I Disease KIP1_HUMAN T43S Polymorphism KISSR_HUMAN C223R Disease KISSR_HUMAN H364L Polymorphism KISSR_HUMAN L148S Disease KISSR_HUMAN R297L Disease KIT_HUMAN A829P Disease KIT_HUMAN D816V Disease KIT_HUMAN D816Y Disease KIT_HUMAN F584L Disease KIT_HUMAN G664R Disease KIT_HUMAN N822K Disease KIT_HUMAN R791G Disease KITM_HUMAN H121N Disease KITM_HUMAN R192K Disease KKCC1_HUMAN E375G Polymorphism KKCC2_HUMAN R363C Polymorphism KKCC2_HUMAN S85T Polymorphism KLC2_HUMAN P517S Polymorphism KLK15_HUMAN P134L Polymorphism KLK1_HUMAN E186K Polymorphism KLK1_HUMAN Q145E Polymorphism KLK1_HUMAN R77H Polymorphism KLK1_HUMAN V193E Polymorphism KLK2_HUMAN V18L Polymorphism KLK3_HUMAN E32K Polymorphism KLK3_HUMAN L132I Polymorphism KLKB1_HUMAN A178T Polymorphism KLKB1_HUMAN Q442P Polymorphism KLKB1_HUMAN R560Q Polymorphism KLKB1_HUMAN S381A Polymorphism KLOT_HUMAN C370S Polymorphism KLOT_HUMAN F352V Polymorphism KNG1_HUMAN G163S Polymorphism KNG1_HUMAN L212P Polymorphism KNG1_HUMAN M178T Polymorphism KPB2_HUMAN R186C Disease KPBB_HUMAN Q656K Polymorphism KPCD_HUMAN M494V Polymorphism KPCD_HUMAN M593V Polymorphism KPCD_HUMAN S375F Polymorphism KPCG_HUMAN H415Q Polymorphism KPCG_HUMAN R659S Polymorphism KPCT_HUMAN P330L Polymorphism KPYR_HUMAN A295V Disease KPYR_HUMAN A336S Disease KPYR_HUMAN A392T Disease KPYR_HUMAN A431T Disease KPYR_HUMAN A459V Disease KPYR_HUMAN A468G Disease KPYR_HUMAN A468V Disease KPYR_HUMAN A495T Disease KPYR_HUMAN A495V Disease KPYR_HUMAN D281N Disease KPYR_HUMAN D293N Disease KPYR_HUMAN D331E Disease KPYR_HUMAN D331N Disease KPYR_HUMAN E172Q Disease KPYR_HUMAN E315K Disease KPYR_HUMAN E427A Disease KPYR_HUMAN E427D Disease KPYR_HUMAN G111R Disease KPYR_HUMAN G222A Disease KPYR_HUMAN G332S Disease KPYR_HUMAN G341A Disease KPYR_HUMAN G364D Disease KPYR_HUMAN G458D Disease KPYR_HUMAN G557A Disease KPYR_HUMAN I153T Disease KPYR_HUMAN I357T Disease KPYR_HUMAN K348N Disease KPYR_HUMAN N393K Disease KPYR_HUMAN N393S Disease KPYR_HUMAN N566K Disease KPYR_HUMAN R359H Disease KPYR_HUMAN R426Q Disease KPYR_HUMAN R479H Disease KPYR_HUMAN R488Q Disease KPYR_HUMAN R498C Disease KPYR_HUMAN R498H Disease KPYR_HUMAN R510Q Disease KPYR_HUMAN R532Q Disease KPYR_HUMAN R559G Disease KPYR_HUMAN R569Q Disease KPYR_HUMAN R86P Disease KPYR_HUMAN S130Y Disease KPYR_HUMAN T408A Disease KPYR_HUMAN T477A Disease KPYR_HUMAN V288L Disease KPYR_HUMAN V335M Disease KPYR_HUMAN V368F Disease KPYR_HUMAN V460M Disease KPYR_HUMAN V506I Polymorphism KPYR_HUMAN V552M Disease KR10A_HUMAN T72P Polymorphism KRHB1_HUMAN G52R Polymorphism KRHB1_HUMAN R248L Polymorphism KRHB2_HUMAN M458T Polymorphism KRHB3_HUMAN C149R Polymorphism KRHB3_HUMAN M279I Polymorphism KRHB4_HUMAN I206V Polymorphism KRHB4_HUMAN R184Q Polymorphism KRHB6_HUMAN E413D Disease KS6A1_HUMAN K335T Polymorphism KS6A3_HUMAN A225V Disease KS6A3_HUMAN H127Q Disease KS6A3_HUMAN I38S Polymorphism KS6A3_HUMAN S227A Disease KYNU_HUMAN K412E Polymorphism L1CAM_HUMAN D598N Disease L1CAM_HUMAN E309K Disease L1CAM_HUMAN G121S Disease L1CAM_HUMAN G370R Disease L1CAM_HUMAN H210Q Disease L1CAM_HUMAN I179S Disease L1CAM_HUMAN I219T Disease L1CAM_HUMAN P240L Disease L1CAM_HUMAN R184Q Disease L1CAM_HUMAN R473C Disease L1CAM_HUMAN V752M Disease L1CAM_HUMAN V768F Disease L1CAM_HUMAN W335R Disease LACTB_HUMAN R469K Polymorphism LAMA2_HUMAN C862R Disease LAMA2_HUMAN E2614K Polymorphism LAMA2_HUMAN L545Q Polymorphism LAMA2_HUMAN R619H Polymorphism LAMA2_HUMAN R919L Polymorphism LAMA_HUMAN E145K Disease LAMA_HUMAN E161K Disease LAMA_HUMAN G465D Disease LAMA_HUMAN H222Y Disease LAMA_HUMAN K486N Disease LAMA_HUMAN L140R Disease LAMA_HUMAN N195K Disease LAMA_HUMAN R133L Disease LAMA_HUMAN R482L Disease LAMA_HUMAN R482Q Disease LAMA_HUMAN R527H Disease LAMA_HUMAN R60G Disease LAMB1_HUMAN R1022Q Polymorphism LAMB3_HUMAN E210K Disease LAMC1_HUMAN P888L Polymorphism LAMC1_HUMAN R1121Q Polymorphism LAMC1_HUMAN V458I Polymorphism LAMC2_HUMAN D247E Polymorphism LAMC2_HUMAN S733T Polymorphism LAP2_HUMAN S274L Polymorphism LAP4_HUMAN L422P Polymorphism LASS4_HUMAN G301S Polymorphism LASS5_HUMAN C75R Polymorphism LBN_HUMAN T699A Polymorphism LBR_HUMAN T311A Polymorphism LCAP_HUMAN A763T Polymorphism LCAT_HUMAN A117T Disease LCAT_HUMAN M317I Disease LCAT_HUMAN R164H Disease LCAT_HUMAN S232T Polymorphism LCAT_HUMAN T147I Disease LCB1_HUMAN V144D Disease LCK_HUMAN A352V Disease LCK_HUMAN P446L Disease LCMT2_HUMAN R141S Polymorphism LCMT2_HUMAN V67L Polymorphism LCTL_HUMAN A240T Polymorphism LDB3_HUMAN D673N Disease LDB3_HUMAN V55I Polymorphism LDB3_HUMAN V635I Polymorphism LDHA_HUMAN K221E Polymorphism LDLR_HUMAN A399D Disease LDLR_HUMAN A50S Disease LDLR_HUMAN C261F Disease LDLR_HUMAN C313Y Disease LDLR_HUMAN C368R Disease LDLR_HUMAN D168N Disease LDLR_HUMAN D175Y Disease LDLR_HUMAN D221N Disease LDLR_HUMAN D342N Disease LDLR_HUMAN D356Y Disease LDLR_HUMAN D482H Disease LDLR_HUMAN D700E Disease LDLR_HUMAN D90N Disease LDLR_HUMAN E277K Disease LDLR_HUMAN E288K Disease LDLR_HUMAN E714K Disease LDLR_HUMAN F403L Disease LDLR_HUMAN H327Y Disease LDLR_HUMAN I423T Disease LDLR_HUMAN L401V Disease LDLR_HUMAN L414R Disease LDLR_HUMAN L432V Disease LDLR_HUMAN L568V Disease LDLR_HUMAN N564H Disease LDLR_HUMAN P608S Disease LDLR_HUMAN P649L Disease LDLR_HUMAN Q366R Disease LDLR_HUMAN Q92E Disease LDLR_HUMAN R350P Disease LDLR_HUMAN R416Q Disease LDLR_HUMAN R78C Disease LDLR_HUMAN R814Q Polymorphism LDLR_HUMAN V468I Polymorphism LDLR_HUMAN V797M Disease LDLR_HUMAN W483R Disease LECT2_HUMAN V58I Polymorphism LEG8_HUMAN C35R Polymorphism LEG8_HUMAN Y18F Polymorphism LEG9_HUMAN G5S Polymorphism LEP_HUMAN V94M Polymorphism LEPR_HUMAN K109R Polymorphism LEPR_HUMAN K204R Polymorphism LGI1_HUMAN L26R Disease LGP2_HUMAN Q425R Polymorphism LGP2_HUMAN R523Q Polymorphism LGR8_HUMAN I604V Polymorphism LGR8_HUMAN T222P Disease LGUL_HUMAN A110E Polymorphism LHR2A_HUMAN H759R Polymorphism LHR2A_HUMAN R506K Polymorphism LHR2A_HUMAN S499I Polymorphism LICH_HUMAN H129R Disease LICH_HUMAN L200P Disease LIPA3_HUMAN A563S Polymorphism LIPE_HUMAN G96S Polymorphism LIPE_HUMAN T111I Polymorphism LIPG_HUMAN F224I Polymorphism LIPG_HUMAN P348T Polymorphism LIPG_HUMAN T161A Polymorphism LIPH_HUMAN D70S Polymorphism LIPH_HUMAN L356F Polymorphism LIPH_HUMAN N215S Polymorphism LIPH_HUMAN S440N Polymorphism LIPH_HUMAN V342I Polymorphism LIPH_HUMAN V95M Polymorphism LIPI_HUMAN D444E Polymorphism LIPL_HUMAN A288T Polymorphism LIPL_HUMAN A427T Polymorphism LIPL_HUMAN D36N Polymorphism LIPL_HUMAN N318S Disease LIPL_HUMAN P234L Disease LIPL_HUMAN R102S Disease LIPL_HUMAN S199C Disease LIPL_HUMAN T379A Polymorphism LIPR1_HUMAN E414D Polymorphism LIRA2_HUMAN H25L Polymorphism LIRA2_HUMAN H25N Polymorphism LIRA3_HUMAN L107R Polymorphism LIRA3_HUMAN S3P Polymorphism LIRA3_HUMAN Y301H Polymorphism LIRB1_HUMAN I142T Polymorphism LIRB1_HUMAN L620F Polymorphism LIRB1_HUMAN L68P Polymorphism LIRB1_HUMAN S155I Polymorphism LIRB2_HUMAN D161E Polymorphism LIRB2_HUMAN H20R Polymorphism LIRB2_HUMAN Y300H Polymorphism LIRB3_HUMAN A574V Polymorphism LIRB3_HUMAN H539Q Polymorphism LIRB3_HUMAN L69W Polymorphism LIRB3_HUMAN Q59R Polymorphism LIRB3_HUMAN Q90E Polymorphism LIRB3_HUMAN R205Q Polymorphism LIRB3_HUMAN S122N Polymorphism LIRB3_HUMAN V21M Polymorphism LIRB3_HUMAN Y400F Polymorphism LIRB3_HUMAN Y400H Polymorphism LIRB3_HUMAN Y405H Polymorphism LIRB4_HUMAN G223D Polymorphism LIRB4_HUMAN K362E Polymorphism LIS1_HUMAN G161S Disease LIS1_HUMAN H148R Disease LITAF_HUMAN I92V Polymorphism LMAN1_HUMAN M410L Polymorphism LMAN1_HUMAN R14Q Polymorphism LMAN1_HUMAN V39A Polymorphism LMBL3_HUMAN T183N Polymorphism LMX1B_HUMAN A230V Disease LMX1B_HUMAN C60Y Disease LOX12_HUMAN A297T Polymorphism LOX12_HUMAN Q260R Polymorphism LOX12_HUMAN S321N Polymorphism LOX15_HUMAN N102K Polymorphism LOX15_HUMAN R204Q Polymorphism LOXE3_HUMAN R396S Disease LOXE3_HUMAN V500F Disease LOXL1_HUMAN G153D Polymorphism LPIN1_HUMAN P610S Polymorphism LPLC1_HUMAN S298P Polymorphism LPPB_HUMAN P53L Polymorphism LPPRC_HUMAN A233V Disease LRP1_HUMAN A217V Polymorphism LRP1_HUMAN N166D Polymorphism LRP2_HUMAN A1287P Polymorphism LRP2_HUMAN A2872T Polymorphism LRP2_HUMAN I2065T Polymorphism LRP2_HUMAN I4210L Polymorphism LRP2_HUMAN K4094E Polymorphism LRP2_HUMAN R3305H Polymorphism LRP3_HUMAN A708V Polymorphism LRP5_HUMAN A1330V Polymorphism LRP5_HUMAN A214T Disease LRP5_HUMAN G171R Disease LRP5_HUMAN Q89R Polymorphism LRP5_HUMAN R494Q Disease LRP5_HUMAN R570Q Disease LRP5_HUMAN R570W Disease LRP5_HUMAN R752C Disease LRP5_HUMAN T253I Disease LRP5_HUMAN V667M Polymorphism LRRC1_HUMAN I193V Polymorphism LRRC6_HUMAN I232T Polymorphism LRRN5_HUMAN L518V Polymorphism LRSM1_HUMAN N318D Polymorphism LRTM1_HUMAN S330N Polymorphism LSHB_HUMAN G122S Polymorphism LSHB_HUMAN I35T Polymorphism LSHB_HUMAN W28R Polymorphism LSHR_HUMAN A568V Disease LSHR_HUMAN A572V Disease LSHR_HUMAN E354K Disease LSHR_HUMAN I542L Disease LSHR_HUMAN I575L Disease LSHR_HUMAN M571I Disease LSHR_HUMAN N284S Polymorphism LSHR_HUMAN S306N Polymorphism LSP1_HUMAN A100T Polymorphism LTB4D_HUMAN A27S Polymorphism LU_HUMAN A539T Polymorphism LU_HUMAN K451Q Polymorphism LU_HUMAN M204K Polymorphism LU_HUMAN V196I Polymorphism LU_HUMAN V381I Polymorphism LXN_HUMAN R53H Polymorphism LYAG_HUMAN A880D Disease LYAG_HUMAN D91N Polymorphism LYAG_HUMAN E579K Disease LYAG_HUMAN E689K Polymorphism LYAG_HUMAN G219R Disease LYAG_HUMAN G549R Disease LYAG_HUMAN G576A Polymorphism LYAG_HUMAN G576S Polymorphism LYAG_HUMAN H223R Polymorphism LYAG_HUMAN I780V Polymorphism LYAG_HUMAN L405P Disease LYAG_HUMAN L552P Disease LYAG_HUMAN M318T Disease LYAG_HUMAN M519V Disease LYAG_HUMAN P545L Disease LYAG_HUMAN R672Q Disease LYAG_HUMAN S529V Disease LYAG_HUMAN S566P Disease LYAG_HUMAN V816I Polymorphism LYAG_HUMAN W481R Disease LYAG_HUMAN Y455F Disease LYAG_HUMAN Y575S Disease LYAM1_HUMAN N369D Polymorphism LYAM1_HUMAN P213S Polymorphism LYAM2_HUMAN A21S Polymorphism LYAM2_HUMAN E295K Polymorphism LYAM2_HUMAN E421Q Polymorphism LYAM2_HUMAN H468Y Polymorphism LYAM2_HUMAN L575F Polymorphism LYAM2_HUMAN P550S Polymorphism LYAM2_HUMAN Q257P Polymorphism LYAM3_HUMAN E542K Polymorphism LYAM3_HUMAN G179R Polymorphism LYAM3_HUMAN G631V Polymorphism LYAM3_HUMAN I274T Polymorphism LYAM3_HUMAN L640V Polymorphism LYAM3_HUMAN M365V Polymorphism LYAM3_HUMAN N603D Polymorphism LYAM3_HUMAN N673S Polymorphism LYAM3_HUMAN P301L Polymorphism LYAM3_HUMAN S331N Polymorphism LYAM3_HUMAN S385L Polymorphism LYAM3_HUMAN S619A Polymorphism LYAM3_HUMAN T661N Polymorphism LYAM3_HUMAN T756P Polymorphism LYAR_HUMAN H265R Polymorphism LYSC_HUMAN D85H Disease LYSC_HUMAN T88N Polymorphism LZTS1_HUMAN K118E Disease M10L1_HUMAN A1179E Polymorphism M10L1_HUMAN I454L Polymorphism M10L1_HUMAN Q820R Polymorphism M10L1_HUMAN R182C Polymorphism M2GD_HUMAN G530A Polymorphism M2GD_HUMAN H109R Disease M2GD_HUMAN P646S Polymorphism M2GD_HUMAN S279P Polymorphism M6PBP_HUMAN I56V Polymorphism MA2B1_HUMAN E401K Disease MA2B1_HUMAN L277V Polymorphism MA2B1_HUMAN R336Q Polymorphism MA2B1_HUMAN T311I Polymorphism MA2C1_HUMAN V960I Polymorphism MAAI_HUMAN K32E Polymorphism MAAI_HUMAN N133H Polymorphism MAAI_HUMAN R42G Polymorphism MAAI_HUMAN T82M Polymorphism MAGA1_HUMAN R72Q Polymorphism MAGA1_HUMAN T32A Polymorphism MAGA4_HUMAN T173A Polymorphism MAGB3_HUMAN H107R Polymorphism MAGD2_HUMAN Q266R Polymorphism MANA_HUMAN R218Q Disease MANS1_HUMAN V55I Polymorphism MAP2_HUMAN R423K Polymorphism MAP4_HUMAN S427Y Polymorphism MAPE_HUMAN W7R Polymorphism MASP_HUMAN I319V Polymorphism MASTL_HUMAN E167D Disease MATN2_HUMAN E356K Polymorphism MATN3_HUMAN E252K Polymorphism MATN3_HUMAN T120M Disease MATN3_HUMAN T303M Disease MBD1_HUMAN P401A Polymorphism MBD4_HUMAN A273T Polymorphism MC3R_HUMAN V81I Polymorphism MC4R_HUMAN I251L Polymorphism MC4R_HUMAN V103I Polymorphism MC5R_HUMAN F209L Polymorphism MCAT_HUMAN Q238R Disease MCCA_HUMAN P464H Polymorphism MCCC2_HUMAN E99Q Disease MCCC2_HUMAN I437V Disease MCCC2_HUMAN P310R Disease MCCC2_HUMAN R155Q Disease MCCC2_HUMAN R268T Disease MCEE_HUMAN R104L Polymorphism MCHR1_HUMAN N32D Polymorphism MCL1_HUMAN E173D Polymorphism MCM2_HUMAN A396T Polymorphism MCM2_HUMAN D68E Polymorphism MCM2_HUMAN V667M Polymorphism MCM3_HUMAN D280V Polymorphism MCM3_HUMAN F287L Polymorphism MCM3_HUMAN I590L Polymorphism MCM4_HUMAN E460G Polymorphism MCM4_HUMAN L650M Polymorphism MCM5_HUMAN S136T Polymorphism MCM5_HUMAN T180S Polymorphism MCM5_HUMAN V258I Polymorphism MCM7_HUMAN N144S Polymorphism MCP_HUMAN A353V Polymorphism MCP_HUMAN D266N Polymorphism MCPT1_HUMAN G46R Polymorphism MCPT1_HUMAN H66R Polymorphism MCR_HUMAN I180V Polymorphism MCR_HUMAN N554S Polymorphism MCR_HUMAN R537Q Polymorphism MD1L1_HUMAN E516K Disease MD1L1_HUMAN N160S Polymorphism MD1L1_HUMAN R558H Disease MD1L1_HUMAN T299A Disease MDC1_HUMAN E1509D Polymorphism MDC1_HUMAN E251K Polymorphism MDC1_HUMAN R268K Polymorphism MDC1_HUMAN S1540P Polymorphism MDC1_HUMAN S586A Polymorphism MDM4_HUMAN I175T Polymorphism MDM4_HUMAN T406I Polymorphism MDR1_HUMAN A893S Polymorphism MDR1_HUMAN A893T Polymorphism MDR1_HUMAN A999T Polymorphism MDR1_HUMAN E108K Polymorphism MDR1_HUMAN F103L Polymorphism MDR1_HUMAN F17L Polymorphism MDR1_HUMAN I836V Polymorphism MDR1_HUMAN M986V Polymorphism MDR1_HUMAN P1051A Polymorphism MDR1_HUMAN Q1107P Polymorphism MDR1_HUMAN S1141T Polymorphism MDR1_HUMAN S400N Polymorphism MDR1_HUMAN V1251I Polymorphism MDR3_HUMAN E528D Polymorphism MDR3_HUMAN L238V Polymorphism MDR3_HUMAN P1161S Disease MDR3_HUMAN R652G Polymorphism MDR3_HUMAN T175A Disease MECP2_HUMAN A439T Polymorphism MECP2_HUMAN A444T Polymorphism MECP2_HUMAN E397K Polymorphism MECP2_HUMAN L100V Disease MECP2_HUMAN L124F Disease MECP2_HUMAN S291A Polymorphism MECP2_HUMAN V412I Polymorphism MEFV_HUMAN A744S Disease MEFV_HUMAN F479L Disease MEFV_HUMAN I591T Disease MEFV_HUMAN K695R Disease MEFV_HUMAN M680I Disease MEFV_HUMAN M680L Disease MEFV_HUMAN M694I Disease MEFV_HUMAN M694V Disease MEFV_HUMAN R202Q Polymorphism MEFV_HUMAN R408Q Disease MEFV_HUMAN R653H Disease MEFV_HUMAN R653H Disease MEFV_HUMAN R761H Disease MEFV_HUMAN S675N Disease MEFV_HUMAN T681I Disease MEFV_HUMAN V726A Disease MELPH_HUMAN G172D Polymorphism MELPH_HUMAN H347R Polymorphism MELPH_HUMAN L153P Polymorphism MELPH_HUMAN V374A Polymorphism MERL_HUMAN E106G Disease MERTK_HUMAN E540K Disease MERTK_HUMAN I518V Polymorphism MERTK_HUMAN I871T Disease MERTK_HUMAN I871V Polymorphism MERTK_HUMAN N498S Polymorphism MERTK_HUMAN R293H Polymorphism MERTK_HUMAN R466K Polymorphism METH_HUMAN C255Y Polymorphism METH_HUMAN D919G Polymorphism METH_HUMAN H920D Disease METH_HUMAN R61K Polymorphism MET_HUMAN A320V Polymorphism MET_HUMAN D1228H Disease MET_HUMAN D1228N Disease MET_HUMAN L1195V Disease MET_HUMAN M1250T Disease MET_HUMAN V1188L Disease MET_HUMAN V1220I Disease MET_HUMAN Y1230H Disease METL_HUMAN G378S Disease MFN2_HUMAN V69F Disease MGMT_HUMAN E166D Polymorphism MGMT_HUMAN I143V Polymorphism MGMT_HUMAN L84F Polymorphism MGR4_HUMAN V797I Polymorphism MGR7_HUMAN Y433F Polymorphism MGR8_HUMAN R392Q Polymorphism MGST3_HUMAN P48S Polymorphism MICA1_HUMAN A758E Polymorphism MICA2_HUMAN I220V Polymorphism MICA3_HUMAN M778L Polymorphism MILK1_HUMAN A519S Polymorphism MINP1_HUMAN Q270R Disease MINT_HUMAN L1091P Polymorphism MIS_HUMAN I49S Polymorphism MITF_HUMAN S405P Disease MJD1_HUMAN M212V Polymorphism MK12_HUMAN T244M Polymorphism MKKS_HUMAN A242S Disease MKKS_HUMAN D286A Disease MKKS_HUMAN G52D Disease MKKS_HUMAN I32M Disease MKKS_HUMAN R155L Disease MKKS_HUMAN R517C Polymorphism MKKS_HUMAN R518H Disease MKKS_HUMAN S236P Disease MKRN1_HUMAN V243L Polymorphism MLH1_HUMAN A492T Disease MLH1_HUMAN I219V Polymorphism MLH1_HUMAN I32V Polymorphism MLH1_HUMAN I565F Disease MLH1_HUMAN K751R Disease MLH1_HUMAN L729V Polymorphism MLH1_HUMAN N64S Disease MLH1_HUMAN P28L Disease MLH1_HUMAN Q62K Disease MLH1_HUMAN R182K Disease MLH1_HUMAN R217C Disease MLH1_HUMAN R217G Polymorphism MLH1_HUMAN R226L Disease MLH1_HUMAN R325Q Polymorphism MLH1_HUMAN R69K Disease MLH1_HUMAN S295T Disease MLH1_HUMAN S93G Disease MLH1_HUMAN T662P Disease MLH1_HUMAN V213M Disease MLH1_HUMAN V716M Disease MLH3_HUMAN F120S Polymorphism MLH3_HUMAN H494R Polymorphism MLH3_HUMAN K231Q Polymorphism MLH3_HUMAN R600Q Polymorphism MLH3_HUMAN R797H Polymorphism MLH3_HUMAN S966P Polymorphism MLH3_HUMAN V420I Polymorphism MLH3_HUMAN Y720C Polymorphism MLRV_HUMAN E21K Disease MLRV_HUMAN F17L Disease MLRV_HUMAN P94A Disease MLRV_HUMAN R57Q Disease MLTK_HUMAN L531S Polymorphism MMAA_HUMAN Q363H Polymorphism MMAA_HUMAN R145Q Disease MMAA_HUMAN R359Q Disease MMAB_HUMAN A135T Disease MMAB_HUMAN M239K Polymorphism MMAB_HUMAN R19Q Polymorphism MMP10_HUMAN F226L Polymorphism MMP10_HUMAN G282E Polymorphism MMP10_HUMAN G65R Polymorphism MMP10_HUMAN H475L Polymorphism MMP10_HUMAN L440F Polymorphism MMP10_HUMAN L4V Polymorphism MMP10_HUMAN R53K Polymorphism MMP11_HUMAN S86P Polymorphism MMP12_HUMAN G469R Polymorphism MMP12_HUMAN N357S Polymorphism MMP13_HUMAN D390G Polymorphism MMP14_HUMAN D273N Polymorphism MMP14_HUMAN I233V Polymorphism MMP14_HUMAN M355I Polymorphism MMP1_HUMAN I191V Polymorphism MMP1_HUMAN Q29P Polymorphism MMP1_HUMAN R405Q Polymorphism MMP1_HUMAN S406T Polymorphism MMP20_HUMAN D139N Polymorphism MMP20_HUMAN I169L Polymorphism MMP20_HUMAN T18K Polymorphism MMP20_HUMAN T281P Polymorphism MMP20_HUMAN V275A Polymorphism MMP21_HUMAN A191V Polymorphism MMP21_HUMAN A454V Polymorphism MMP2_HUMAN A447V Polymorphism MMP2_HUMAN V621L Polymorphism MMP3_HUMAN K45E Polymorphism MMP7_HUMAN G137D Polymorphism MMP7_HUMAN P241L Polymorphism MMP7_HUMAN R77H Polymorphism MMP8_HUMAN K87E Polymorphism MMP9_HUMAN A20V Polymorphism MMP9_HUMAN E82K Polymorphism MMP9_HUMAN N127K Polymorphism MMP9_HUMAN R279Q Polymorphism MMP9_HUMAN R668Q Polymorphism MMS19_HUMAN A558V Polymorphism MMS19_HUMAN G68A Polymorphism MMS19_HUMAN G790D Polymorphism MMS19_HUMAN M365V Polymorphism MMS19_HUMAN Q434E Polymorphism MMS19_HUMAN R983H Polymorphism MMS19_HUMAN V197I Polymorphism MMS19_HUMAN V526I Polymorphism MNDA_HUMAN H357Y Polymorphism MOD5_HUMAN F202L Polymorphism MOT1_HUMAN K204E Disease MOT8_HUMAN A224V Disease MOTI_HUMAN V15A Polymorphism MOX2R_HUMAN P121T Polymorphism MOX2R_HUMAN Q177H Polymorphism MOX2R_HUMAN R89K Polymorphism MP2K3_HUMAN L215V Disease MPIP1_HUMAN R182G Polymorphism MPIP2_HUMAN E548K Polymorphism MPP4_HUMAN S44G Polymorphism MPRI_HUMAN G1619R Polymorphism MPRI_HUMAN G1860D Polymorphism MPRI_HUMAN G604S Polymorphism MPRI_HUMAN G856S Polymorphism MPRI_HUMAN K512Q Polymorphism MPRI_HUMAN L817V Polymorphism MPRI_HUMAN N2020S Polymorphism MPRI_HUMAN R1335H Polymorphism MPRI_HUMAN R1832H Polymorphism MPRI_HUMAN T1184S Polymorphism MPRI_HUMAN V1124I Polymorphism MRE11_HUMAN M157V Polymorphism MRGX1_HUMAN I36V Polymorphism MRGX2_HUMAN N62S Polymorphism MRGX3_HUMAN D169N Polymorphism MRGX4_HUMAN F8L Polymorphism MRGX4_HUMAN N25K Polymorphism MRGX4_HUMAN S83L Polymorphism MRGX4_HUMAN Y54C Polymorphism MRP1_HUMAN C43S Polymorphism MRP1_HUMAN R1058Q Polymorphism MRP1_HUMAN R433S Polymorphism MRP1_HUMAN R633Q Polymorphism MRP1_HUMAN R723Q Polymorphism MRP1_HUMAN S1512L Polymorphism MRP1_HUMAN T117M Polymorphism MRP1_HUMAN T73I Polymorphism MRP2_HUMAN A1450T Polymorphism MRP2_HUMAN C1515Y Polymorphism MRP2_HUMAN D333G Polymorphism MRP2_HUMAN I1036T Polymorphism MRP2_HUMAN I670T Polymorphism MRP2_HUMAN L849R Polymorphism MRP2_HUMAN P1291L Polymorphism MRP2_HUMAN R1150H Disease MRP2_HUMAN R1181L Polymorphism MRP2_HUMAN R353H Polymorphism MRP2_HUMAN S281N Polymorphism MRP2_HUMAN V1188E Polymorphism MRP2_HUMAN V417I Polymorphism MRP3_HUMAN Q1365R Polymorphism MRP3_HUMAN R1297H Polymorphism MRP3_HUMAN R1348C Polymorphism MRP3_HUMAN R1381S Polymorphism MRP3_HUMAN S346F Polymorphism MRP3_HUMAN S607N Polymorphism MRP4_HUMAN E757K Polymorphism MRP4_HUMAN K304N Polymorphism MRP4_HUMAN K498E Polymorphism MRP4_HUMAN M184T Polymorphism MRP4_HUMAN M744V Polymorphism MRP4_HUMAN V860M Polymorphism MRP4_HUMAN V900L Polymorphism MRP6_HUMAN A455P Disease MRP6_HUMAN D1361N Disease MRP6_HUMAN F568S Disease MRP6_HUMAN G1203D Disease MRP6_HUMAN G1354R Disease MRP6_HUMAN G207R Polymorphism MRP6_HUMAN G61D Polymorphism MRP6_HUMAN H632Q Polymorphism MRP6_HUMAN I319V Polymorphism MRP6_HUMAN K281E Polymorphism MRP6_HUMAN R1138Q Disease MRP6_HUMAN R1268Q Polymorphism MRP6_HUMAN R1314Q Disease MRP6_HUMAN R265G Polymorphism MRP6_HUMAN T1301I Disease MRP6_HUMAN T364R Disease MRP6_HUMAN V614A Polymorphism MRP6_HUMAN W1241C Polymorphism MRP6_HUMAN W64R Polymorphism MSH2_HUMAN A305T Disease MSH2_HUMAN C641G Polymorphism MSH2_HUMAN D660G Disease MSH2_HUMAN G322D Polymorphism MSH2_HUMAN I145M Polymorphism MSH2_HUMAN I216V Polymorphism MSH2_HUMAN I770V Polymorphism MSH2_HUMAN K845E Disease MSH2_HUMAN N139S Disease MSH2_HUMAN N596S Polymorphism MSH2_HUMAN R524P Disease MSH2_HUMAN S323C Disease MSH2_HUMAN S554R Polymorphism MSH2_HUMAN T905R Disease MSH2_HUMAN V163G Disease MSH3_HUMAN F709L Polymorphism MSH3_HUMAN R949Q Polymorphism MSH3_HUMAN T1045A Polymorphism MSH3_HUMAN T1054A Polymorphism MSH4_HUMAN A60V Polymorphism MSH4_HUMAN S914N Polymorphism MSH4_HUMAN Y589C Polymorphism MSH6_HUMAN I886V Polymorphism MSH6_HUMAN L396V Polymorphism MSH6_HUMAN Q698E Polymorphism MSH6_HUMAN V1260I Polymorphism MSH6_HUMAN V800L Polymorphism MSH6_HUMAN V878A Polymorphism MSHR_HUMAN F196L Polymorphism MSHR_HUMAN R163Q Polymorphism MSHR_HUMAN R67Q Polymorphism MSHR_HUMAN V60L Polymorphism MSMB_HUMAN I25M Polymorphism MSMB_HUMAN Q53R Polymorphism MSX1_HUMAN E78V Disease MSX1_HUMAN G116E Disease MSX1_HUMAN R151S Disease MSX2_HUMAN T129M Polymorphism MTHR_HUMAN A222V Polymorphism MTHR_HUMAN E429A Polymorphism MTHR_HUMAN N324S Disease MTHR_HUMAN R594Q Polymorphism MTHR_HUMAN R68Q Polymorphism MTM1_HUMAN D431N Disease MTM1_HUMAN D433N Disease MTM1_HUMAN E157K Disease MTM1_HUMAN E404K Disease MTM1_HUMAN H232R Disease MTM1_HUMAN I264S Disease MTM1_HUMAN K510N Disease MTM1_HUMAN N180K Disease MTM1_HUMAN P179S Disease MTM1_HUMAN P199S Disease MTM1_HUMAN R241C Disease MTM1_HUMAN V49F Disease MTM1_HUMAN Y397C Disease MTP_HUMAN Q95H Polymorphism MTR1A_HUMAN A157V Polymorphism MTR1B_HUMAN G24E Polymorphism MTR1B_HUMAN L66F Polymorphism MTRR_HUMAN G581R Disease MTRR_HUMAN I49M Polymorphism MTRR_HUMAN L360V Polymorphism MTRR_HUMAN V83M Disease MUC15_HUMAN I184T Polymorphism MUC15_HUMAN I202T Polymorphism MUC1_HUMAN S1142N Polymorphism MUC1_HUMAN V1117M Polymorphism MUC5B_HUMAN T5137S Polymorphism MUC_HUMAN S192G Polymorphism MUC_HUMAN V216G Polymorphism MUSK_HUMAN M413I Polymorphism MUTA_HUMAN A137V Disease MUTA_HUMAN A191E Disease MUTA_HUMAN A499T Polymorphism MUTA_HUMAN A535P Disease MUTA_HUMAN D156N Disease MUTA_HUMAN G648D Disease MUTA_HUMAN I69V Polymorphism MUTA_HUMAN K621N Disease MUTA_HUMAN N219Y Disease MUTA_HUMAN P615T Disease MUTA_HUMAN Q293P Disease MUTA_HUMAN R228Q Disease MUTA_HUMAN R532H Polymorphism MUTA_HUMAN R616C Disease MUTA_HUMAN R694W Disease MUTA_HUMAN R93H Disease MUTA_HUMAN S262N Disease MUTA_HUMAN V671I Polymorphism MUTA_HUMAN W105R Disease MUTYH_HUMAN R531Q Polymorphism MY18B_HUMAN A835G Disease MY18B_HUMAN E1708K Disease MY18B_HUMAN E1715D Disease MY18B_HUMAN P1238Q Disease MY18B_HUMAN P1238T Disease MY18B_HUMAN Q2347R Polymorphism MY18B_HUMAN R1095L Disease MY18B_HUMAN R1195Q Disease MYBB_HUMAN S427G Polymorphism MYC_HUMAN A322V Polymorphism MYC_HUMAN G160C Polymorphism MYC_HUMAN V170I Polymorphism MYEOV_HUMAN A159V Polymorphism MYG_HUMAN K133N Polymorphism MYH14_HUMAN I266V Polymorphism MYH14_HUMAN N1559S Polymorphism MYH14_HUMAN R726S Disease MYH4_HUMAN T883M Polymorphism MYH7_HUMAN A1124S Polymorphism MYH7_HUMAN A1379T Disease MYH7_HUMAN A1777T Disease MYH7_HUMAN A223T Disease MYH7_HUMAN A26V Disease MYH7_HUMAN A355T Disease MYH7_HUMAN A428V Disease MYH7_HUMAN A728V Disease MYH7_HUMAN A797T Disease MYH7_HUMAN D107E Polymorphism MYH7_HUMAN D587V Disease MYH7_HUMAN D778E Disease MYH7_HUMAN D778G Disease MYH7_HUMAN E1218Q Disease MYH7_HUMAN E1555K Disease MYH7_HUMAN E483K Disease MYH7_HUMAN E499K Disease MYH7_HUMAN E743D Disease MYH7_HUMAN E846Q Disease MYH7_HUMAN E924K Disease MYH7_HUMAN E930K Disease MYH7_HUMAN E935K Disease MYH7_HUMAN E949K Disease MYH7_HUMAN F244L Disease MYH7_HUMAN F764L Disease MYH7_HUMAN G716R Disease MYH7_HUMAN G733E Disease MYH7_HUMAN G741R Disease MYH7_HUMAN G768R Disease MYH7_HUMAN I263T Disease MYH7_HUMAN I443T Disease MYH7_HUMAN I736M Disease MYH7_HUMAN K615N Disease MYH7_HUMAN L1135R Disease MYH7_HUMAN L390V Disease MYH7_HUMAN L601V Disease MYH7_HUMAN L908V Disease MYH7_HUMAN M659I Disease MYH7_HUMAN M852T Disease MYH7_HUMAN M877K Disease MYH7_HUMAN N232S Disease MYH7_HUMAN N602S Disease MYH7_HUMAN N696S Disease MYH7_HUMAN P731L Disease MYH7_HUMAN Q222K Disease MYH7_HUMAN Q595R Disease MYH7_HUMAN R143Q Disease MYH7_HUMAN R204H Disease MYH7_HUMAN R249Q Disease MYH7_HUMAN R403Q Disease MYH7_HUMAN R453C Disease MYH7_HUMAN R663H Disease MYH7_HUMAN R663S Disease MYH7_HUMAN R723C Disease MYH7_HUMAN R723G Disease MYH7_HUMAN R870C Disease MYH7_HUMAN R870H Disease MYH7_HUMAN S1776G Disease MYH7_HUMAN S532P Disease MYH7_HUMAN S642L Disease MYH7_HUMAN S782N Disease MYH7_HUMAN T1377M Disease MYH7_HUMAN V1692M Polymorphism MYH7_HUMAN V320M Disease MYH7_HUMAN V406M Disease MYH7_HUMAN V59I Disease MYH7_HUMAN V606M Disease MYH9_HUMAN A94T Disease MYH9_HUMAN D1423N Disease MYH9_HUMAN E1840K Disease MYH9_HUMAN I1625V Polymorphism MYH9_HUMAN K372N Disease MYH9_HUMAN R1164L Disease MYH9_HUMAN R701H Disease MYH9_HUMAN R704H Disease MYH9_HUMAN T1154I Disease MYL3_HUMAN E142K Disease MYL3_HUMAN E55G Disease MYL3_HUMAN R153H Disease MYLIP_HUMAN S342N Polymorphism MYLK_HUMAN D914E Polymorphism MYLK_HUMAN L861P Polymorphism MYO1A_HUMAN F600L Polymorphism MYO1A_HUMAN G662E Disease MYO1A_HUMAN V306M Disease MYO3A_HUMAN D204N Polymorphism MYO3A_HUMAN S1313R Polymorphism MYO3A_HUMAN S956N Polymorphism MYO5C_HUMAN L634S Polymorphism MYO5C_HUMAN P522L Polymorphism MYO6_HUMAN E216V Disease MYO7A_HUMAN A26E Disease MYO7A_HUMAN A457V Disease MYO7A_HUMAN A826T Disease MYO7A_HUMAN C1666S Polymorphism MYO7A_HUMAN F1992I Polymorphism MYO7A_HUMAN G2163S Disease MYO7A_HUMAN G955S Disease MYO7A_HUMAN I1954L Polymorphism MYO7A_HUMAN I205V Polymorphism MYO7A_HUMAN L16S Disease MYO7A_HUMAN M599I Disease MYO7A_HUMAN P1887L Disease MYO7A_HUMAN P503L Disease MYO7A_HUMAN R212C Disease MYO7A_HUMAN R302H Disease MYO7A_HUMAN V597I Polymorphism MYO7A_HUMAN V67M Disease MYOC_HUMAN A445V Disease MYOC_HUMAN C433R Disease MYOC_HUMAN D208E Polymorphism MYOC_HUMAN E352K Disease MYOC_HUMAN G246R Disease MYOC_HUMAN G364V Disease MYOC_HUMAN G367R Disease MYOC_HUMAN K398R Polymorphism MYOC_HUMAN K500R Polymorphism MYOC_HUMAN P361S Disease MYOC_HUMAN P370L Disease MYOC_HUMAN Q19H Polymorphism MYOC_HUMAN R189Q Polymorphism MYOC_HUMAN R82H Polymorphism MYOC_HUMAN T293K Disease MYOC_HUMAN T353I Disease MYOC_HUMAN V426F Disease MYOC_HUMAN V495I Polymorphism MYOM2_HUMAN L1022F Polymorphism MYOM2_HUMAN T776M Polymorphism MYP0_HUMAN D90E Disease MYP0_HUMAN I30M Disease MYP0_HUMAN K130R Disease MYP0_HUMAN R98H Disease MYP0_HUMAN S78L Disease MYPC1_HUMAN H481Q Polymorphism MYPC2_HUMAN V625I Polymorphism MYPC3_HUMAN A1194T Disease MYPC3_HUMAN A522T Polymorphism MYPC3_HUMAN A833V Disease MYPC3_HUMAN E258K Disease MYPC3_HUMAN G278E Disease MYPC3_HUMAN G279A Disease MYPC3_HUMAN K811R Disease MYPC3_HUMAN L383V Polymorphism MYPC3_HUMAN Q998E Polymorphism MYPC3_HUMAN S236G Polymorphism MYPC3_HUMAN V189I Polymorphism MYPR_HUMAN L45R Disease MYPR_HUMAN T155I Disease MYPT2_HUMAN I182V Polymorphism N2DL4_HUMAN Y82N Polymorphism NADC_HUMAN A158V Polymorphism NAGAB_HUMAN R329Q Disease NAGAB_HUMAN S160C Disease NALP1_HUMAN R404Q Polymorphism NALP4_HUMAN Q925L Polymorphism NAR4_HUMAN D135E Polymorphism NAR4_HUMAN N265D Polymorphism NAR4_HUMAN T189M Polymorphism NBR1_HUMAN R923H Polymorphism NCB5R_HUMAN R57Q Disease NCB5R_HUMAN S65P Polymorphism NCB5R_HUMAN T116S Polymorphism NCB5R_HUMAN V105M Disease NCF1_HUMAN A308V Polymorphism NCF1_HUMAN D166N Polymorphism NCF1_HUMAN R90H Polymorphism NCF1_HUMAN S99G Polymorphism NCF1_HUMAN T160S Polymorphism NCF2_HUMAN K181R Polymorphism NCF2_HUMAN R77Q Disease NCF4_HUMAN I147L Polymorphism NCLN_HUMAN K551R Polymorphism NCOA1_HUMAN A685E Polymorphism NCOA1_HUMAN F999S Polymorphism NCOA1_HUMAN K457Q Polymorphism NCOA1_HUMAN K466N Polymorphism NCOA1_HUMAN P474S Polymorphism NCOA1_HUMAN P794A Polymorphism NCOA1_HUMAN T1154M Polymorphism NCOA1_HUMAN T591I Polymorphism NCOA3_HUMAN G460R Polymorphism NCOA3_HUMAN P559S Polymorphism NCOA3_HUMAN Q586H Polymorphism NCPR_HUMAN A283P Disease NCPR_HUMAN A499V Polymorphism NCPR_HUMAN R550Q Polymorphism NCPR_HUMAN Y574C Disease NCTR1_HUMAN K82Q Polymorphism NCTR2_HUMAN P139S Polymorphism NEBL_HUMAN M351V Polymorphism NEBL_HUMAN N654K Polymorphism NEBL_HUMAN Q187H Polymorphism NEBL_HUMAN T728A Polymorphism NEBU_HUMAN G5934E Polymorphism NEC1_HUMAN G483R Disease NEC1_HUMAN N221D Polymorphism NEC1_HUMAN Q665E Polymorphism NED4L_HUMAN P355L Polymorphism NEIL2_HUMAN R102Q Polymorphism NEIL2_HUMAN R256L Polymorphism NEIL3_HUMAN L443P Polymorphism NET4_HUMAN Y205H Polymorphism NEU2_HUMAN G48V Disease NEU2_HUMAN G88R Disease NEU2_HUMAN G88S Disease NEU2_HUMAN P82L Polymorphism NEU2_HUMAN R97P Disease NEUR1_HUMAN A298V Disease NEUR1_HUMAN G219A Disease NEUR1_HUMAN G227R Disease NEUR1_HUMAN G328S Disease NEUR1_HUMAN L363P Disease NEUR1_HUMAN P316S Disease NEUR1_HUMAN R225P Disease NEUR1_HUMAN S182G Disease NEUR1_HUMAN V217M Disease NF1_HUMAN G1166D Disease NF1_HUMAN I1605V Disease NF1_HUMAN K583R Disease NF1_HUMAN L2164M Disease NF1_HUMAN V2511L Polymorphism NF1_HUMAN Y1422H Polymorphism NF1_HUMAN Y491C Disease NF2L2_HUMAN S99P Polymorphism NFASC_HUMAN T159M Polymorphism NFKB1_HUMAN H711Q Polymorphism NFKB1_HUMAN M506V Polymorphism NFKB1_HUMAN R578K Polymorphism NFKB1_HUMAN T566I Polymorphism NGF_HUMAN V35A Polymorphism NIDO_HUMAN Q669R Polymorphism NIPA_HUMAN T271A Polymorphism NIPBL_HUMAN A2390T Disease NIPBL_HUMAN G2381A Disease NIPS1_HUMAN E245K Polymorphism NK2R_HUMAN R375H Polymorphism NKG2C_HUMAN S102F Polymorphism NKG2C_HUMAN S2N Polymorphism NKG2D_HUMAN A72T Polymorphism NKG2E_HUMAN P19R Polymorphism NKG2E_HUMAN R135S Polymorphism NKG2F_HUMAN S104N Polymorphism NKX25_HUMAN R25C Disease NLK_HUMAN V165A Polymorphism NMD3A_HUMAN M362V Polymorphism NMD3A_HUMAN N835D Polymorphism NMD3A_HUMAN R1041Q Polymorphism NMD3A_HUMAN R487G Polymorphism NMD3B_HUMAN T577M Polymorphism NMD3B_HUMAN W414R Polymorphism NMDE2_HUMAN S407N Polymorphism NMUR2_HUMAN F315L Polymorphism NMUR2_HUMAN S298T Polymorphism NO55_HUMAN Q186R Polymorphism NOC3L_HUMAN E472A Polymorphism NODAL_HUMAN R183Q Disease NOE2_HUMAN R106Q Polymorphism NOMO1_HUMAN E1081K Polymorphism NOMO1_HUMAN I404V Polymorphism NOMO1_HUMAN M493V Polymorphism NOMO1_HUMAN M580V Polymorphism NOMO1_HUMAN N490D Polymorphism NOP56_HUMAN V576A Polymorphism NOS1_HUMAN D394A Polymorphism NOS1_HUMAN G864D Polymorphism NOS1_HUMAN N725D Polymorphism NOS1_HUMAN Q1064R Polymorphism NOS3_HUMAN E297D Polymorphism NOTC3_HUMAN C212S Disease NOTC3_HUMAN C222G Disease NOTC3_HUMAN H1133Q Polymorphism NOTC3_HUMAN H170R Polymorphism NOTC3_HUMAN P496L Polymorphism NOTC3_HUMAN R1006C Disease NOTC3_HUMAN R1231C Disease NOTC3_HUMAN R133C Disease NOTC3_HUMAN R169C Disease NOTC3_HUMAN R182C Disease NOTC3_HUMAN R558C Disease NOTC3_HUMAN V1183M Polymorphism NOTC3_HUMAN V2223A Polymorphism NOTC3_HUMAN W71C Disease NOTC3_HUMAN Y258C Disease NOTC4_HUMAN D272G Polymorphism NOTC4_HUMAN E317Q Polymorphism NOTC4_HUMAN K117Q Polymorphism NOTC4_HUMAN K851R Polymorphism NOTC4_HUMAN T320A Polymorphism NPC1_HUMAN C177G Disease NPC1_HUMAN F1167L Disease NPC1_HUMAN G333D Polymorphism NPC1_HUMAN H215R Polymorphism NPC1_HUMAN H510P Disease NPC1_HUMAN I1220T Polymorphism NPC1_HUMAN I858V Polymorphism NPC1_HUMAN M642I Polymorphism NPC1_HUMAN N1156S Disease NPC1_HUMAN Q928P Disease NPC1_HUMAN R1266Q Polymorphism NPC1_HUMAN R518Q Disease NPC1_HUMAN S473P Disease NPC1_HUMAN V378A Disease NPC1_HUMAN V889M Disease NPC1_HUMAN V950M Disease NPH4_HUMAN R740H Polymorphism NPH4_HUMAN T946A Disease NPH4_HUMAN V765I Polymorphism NPHN_HUMAN E117K Polymorphism NPHN_HUMAN R408Q Polymorphism NPHP3_HUMAN A1221V Disease NPHP3_HUMAN S1252R Disease NPHP3_HUMAN S1314T Disease NQO1_HUMAN P187S Polymorphism NQO2_HUMAN E28G Polymorphism NQO2_HUMAN G57D Polymorphism NQO2_HUMAN K15R Polymorphism NR2E3_HUMAN E121K Disease NR2E3_HUMAN E140G Polymorphism NR2E3_HUMAN L336P Disease NR2E3_HUMAN L353V Disease NR2E3_HUMAN M163T Polymorphism NR2E3_HUMAN R309G Disease NR2E3_HUMAN R311Q Disease NR2E3_HUMAN R76Q Disease NR2E3_HUMAN R76W Disease NR2E3_HUMAN V232I Polymorphism NR2E3_HUMAN V302I Polymorphism NRAM1_HUMAN A318V Polymorphism NRAM2_HUMAN L435I Polymorphism NRG1_HUMAN R37Q Polymorphism NSD1_HUMAN G1955D Disease NSD1_HUMAN R2005Q Disease NSDHL_HUMAN A105V Disease NSF1C_HUMAN D290N Polymorphism NT3_HUMAN G76E Polymorphism NTCP2_HUMAN A171S Polymorphism NTCP2_HUMAN P290S Disease NTCP_HUMAN S267F Polymorphism NTR1_HUMAN V304I Polymorphism NTRK1_HUMAN D674Y Disease NTRK1_HUMAN G613V Polymorphism NTRK1_HUMAN H604Y Polymorphism NTRK1_HUMAN M587V Disease NTRK1_HUMAN R780Q Polymorphism NTRK2_HUMAN N338Y Polymorphism NU1M_HUMAN A4T Disease NU1M_HUMAN M31T Disease NU1M_HUMAN M31V Disease NU1M_HUMAN T168A Polymorphism NU1M_HUMAN T87A Polymorphism NU1M_HUMAN Y255C Polymorphism NU1M_HUMAN Y304H Disease NU1M_HUMAN Y30H Disease NU2M_HUMAN A331S Disease NU2M_HUMAN A331T Polymorphism NU2M_HUMAN F325L Polymorphism NU2M_HUMAN I159T Polymorphism NU2M_HUMAN I278T Polymorphism NU2M_HUMAN I57T Polymorphism NU2M_HUMAN I69V Polymorphism NU2M_HUMAN L237M Polymorphism NU2M_HUMAN N150D Disease NU2M_HUMAN N150S Polymorphism NU2M_HUMAN N88S Polymorphism NU2M_HUMAN S148P Polymorphism NU2M_HUMAN T119A Polymorphism NU2M_HUMAN T185A Polymorphism NU2M_HUMAN T333A Polymorphism NU2M_HUMAN V43I Polymorphism NU3M_HUMAN T114A Polymorphism NU4LM_HUMAN N57S Polymorphism NU4LM_HUMAN V65A Disease NU4M_HUMAN T109A Disease NU4M_HUMAN V313I Disease NU5M_HUMAN A458T Disease NU5M_HUMAN A475T Polymorphism NU5M_HUMAN F95S Polymorphism NU5M_HUMAN I257V Polymorphism NU5M_HUMAN M314V Polymorphism NU5M_HUMAN N165S Polymorphism NU5M_HUMAN T211P Polymorphism NU6M_HUMAN A72V Disease NU6M_HUMAN A74V Disease NU6M_HUMAN G36S Disease NU6M_HUMAN I33V Polymorphism NU6M_HUMAN I58V Polymorphism NU6M_HUMAN V31A Polymorphism NUAM_HUMAN F649V Polymorphism NUBM_HUMAN A341V Disease NUBM_HUMAN I76V Polymorphism NUCB1_HUMAN Q399R Polymorphism NUHM_HUMAN V29A Polymorphism NUP62_HUMAN A233S Polymorphism O10H3_HUMAN V224M Polymorphism O11A1_HUMAN A165T Polymorphism O12D3_HUMAN T97I Polymorphism OAT_HUMAN A226V Disease OAT_HUMAN C394R Disease OAT_HUMAN H319Y Disease OAT_HUMAN L437F Polymorphism OAT_HUMAN P241L Disease OAT_HUMAN R154L Disease OAT_HUMAN R180T Disease OAT_HUMAN R271K Disease OAT_HUMAN Y245C Disease OAT_HUMAN Y55H Disease OAZ1_HUMAN A146V Polymorphism OAZ1_HUMAN R31L Polymorphism OAZ1_HUMAN S49F Polymorphism OBFC1_HUMAN S248C Polymorphism OBFC1_HUMAN T151A Polymorphism OCRL_HUMAN I533S Disease OCRL_HUMAN R337P Disease OCRL_HUMAN Y513C Disease OCTN1_HUMAN L503F Disease OCTN1_HUMAN T306I Polymorphism OCTN2_HUMAN F17L Polymorphism OCTN2_HUMAN L144F Polymorphism OCTN2_HUMAN M179L Disease OCTN2_HUMAN V446F Disease OCTN2_HUMAN V481F Polymorphism OCTN2_HUMAN Y211C Disease ODB2_HUMAN G384S Disease ODBA_HUMAN F409C Disease ODBA_HUMAN Q190K Disease ODBA_HUMAN Y438N Disease ODO2_HUMAN A213P Polymorphism ODPA_HUMAN A199T Disease ODPA_HUMAN D315N Disease ODPA_HUMAN H113D Disease ODPA_HUMAN M210V Disease ODPA_HUMAN M282L Polymorphism ODPA_HUMAN R10P Disease ODPA_HUMAN T231A Disease ODPB_HUMAN V31L Polymorphism OFD1_HUMAN S435R Disease OGG1_HUMAN A288V Polymorphism OGG1_HUMAN D322N Polymorphism OGG1_HUMAN R229Q Polymorphism OGG1_HUMAN R46Q Disease OGG1_HUMAN S320T Polymorphism OLR1_HUMAN K167N Polymorphism OPA1_HUMAN N158S Polymorphism OPA1_HUMAN R290Q Disease OPHN1_HUMAN T301M Polymorphism OPN4_HUMAN T394I Polymorphism OPRM_HUMAN A6V Polymorphism OPRM_HUMAN D274N Polymorphism OPRM_HUMAN N40D Polymorphism OPRM_HUMAN R260H Polymorphism OPRM_HUMAN S147C Polymorphism OPSD_HUMAN A164V Disease OPSD_HUMAN A292E Disease OPSD_HUMAN C140S Disease OPSD_HUMAN D190N Disease OPSD_HUMAN E150K Disease OPSD_HUMAN E181K Disease OPSD_HUMAN F220C Disease OPSD_HUMAN F45L Disease OPSD_HUMAN G182S Disease OPSD_HUMAN G188E Disease OPSD_HUMAN G188R Disease OPSD_HUMAN M44T Disease OPSD_HUMAN P171L Disease OPSD_HUMAN P171Q Disease OPSD_HUMAN P171S Disease OPSD_HUMAN P347S Disease OPSD_HUMAN Q28H Disease OPSD_HUMAN S127F Disease OPSD_HUMAN S186P Disease OPSD_HUMAN T94I Disease OPSD_HUMAN V104I Polymorphism OPSD_HUMAN V345L Disease OPSD_HUMAN V345M Disease OPSD_HUMAN Y178N Disease OPSR_HUMAN A174V Polymorphism OPSR_HUMAN A298P Polymorphism OPSR_HUMAN I111V Polymorphism OPSR_HUMAN I230T Polymorphism OPSR_HUMAN L153M Polymorphism OPSR_HUMAN P307L Disease OPSR_HUMAN S116Y Polymorphism OPSR_HUMAN S180A Polymorphism OPSR_HUMAN T65I Polymorphism OPSR_HUMAN Y309F Polymorphism OPTN_HUMAN E322K Polymorphism OPTN_HUMAN M98K Polymorphism OPTN_HUMAN P201S Polymorphism OPTN_HUMAN R545Q Disease OPTN_HUMAN S216R Polymorphism OPTN_HUMAN T357P Polymorphism OR1A2_HUMAN G256C Polymorphism OR1D2_HUMAN R25Q Polymorphism OR1E1_HUMAN A143T Polymorphism OR2B2_HUMAN Q234R Polymorphism OR2F2_HUMAN A98V Polymorphism OR2H2_HUMAN A48V Polymorphism OR2H2_HUMAN F30I Polymorphism OR2H2_HUMAN F30S Polymorphism OR2H2_HUMAN T220A Polymorphism OR2J1_HUMAN I14L Polymorphism OR2J2_HUMAN A111T Polymorphism OR2J2_HUMAN A146V Polymorphism OR2J2_HUMAN H74Y Polymorphism OR2J3_HUMAN I261M Polymorphism OR2J3_HUMAN R226Q Polymorphism OR2J3_HUMAN T113A Polymorphism OR2J3_HUMAN V228I Polymorphism OR2W1_HUMAN D296N Polymorphism OR2W1_HUMAN M81V Polymorphism ORC3_HUMAN I247V Polymorphism ORC3_HUMAN Q126R Polymorphism ORC3_HUMAN V217I Polymorphism ORC4_HUMAN L56V Polymorphism ORCT2_HUMAN R70C Disease ORNT1_HUMAN G27E Disease ORNT1_HUMAN G27R Disease ORNT1_HUMAN I254L Polymorphism ORNT2_HUMAN G181V Polymorphism ORNT2_HUMAN I226V Polymorphism OSR10_HUMAN N254D Polymorphism OTC_HUMAN A102E Disease OTC_HUMAN A208T Disease OTC_HUMAN A209V Disease OTC_HUMAN A336S Disease OTC_HUMAN E87K Disease OTC_HUMAN G269E Disease OTC_HUMAN G50R Disease OTC_HUMAN G79E Disease OTC_HUMAN H117R Disease OTC_HUMAN H182L Disease OTC_HUMAN H202Y Disease OTC_HUMAN H255P Disease OTC_HUMAN I159T Disease OTC_HUMAN I172M Disease OTC_HUMAN K46R Polymorphism OTC_HUMAN K88N Disease OTC_HUMAN L148F Disease OTC_HUMAN L191F Disease OTC_HUMAN L201P Disease OTC_HUMAN L244Q Disease OTC_HUMAN L301F Disease OTC_HUMAN L43F Polymorphism OTC_HUMAN L45P Disease OTC_HUMAN L45V Disease OTC_HUMAN M206I Disease OTC_HUMAN M206R Disease OTC_HUMAN M268T Disease OTC_HUMAN N198K Disease OTC_HUMAN P220A Disease OTC_HUMAN P225L Disease OTC_HUMAN P225T Disease OTC_HUMAN Q180H Disease OTC_HUMAN Q216E Disease OTC_HUMAN Q270R Polymorphism OTC_HUMAN R129H Disease OTC_HUMAN R26Q Disease OTC_HUMAN R330G Disease OTC_HUMAN S207R Disease OTC_HUMAN S267R Disease OTC_HUMAN S60L Disease OTC_HUMAN T242I Disease OTC_HUMAN T264A Disease OTC_HUMAN T264I Disease OTC_HUMAN T333A Polymorphism OTC_HUMAN T343K Disease OTC_HUMAN V337L Disease OTC_HUMAN V339L Disease OTC_HUMAN W265L Disease OTC_HUMAN Y183C Disease OTC_HUMAN Y55D Disease OVGP1_HUMAN E676Q Polymorphism OX1R_HUMAN I408V Polymorphism OXA1L_HUMAN V44A Polymorphism OXDD_HUMAN H230Y Polymorphism OXDD_HUMAN L255R Polymorphism OXDD_HUMAN Q189E Polymorphism OXSR1_HUMAN T304I Polymorphism OZF_HUMAN K8R Polymorphism P2RX7_HUMAN H155Y Polymorphism P2RX7_HUMAN Q460R Polymorphism P2RX7_HUMAN R270H Polymorphism P2RY4_HUMAN N178T Polymorphism P2RY4_HUMAN P191L Polymorphism P2RY4_HUMAN V168M Polymorphism P2RY5_HUMAN I33V Polymorphism P34_HUMAN I132L Polymorphism P53_HUMAN A129D Disease P53_HUMAN A161S Disease P53_HUMAN A307T Disease P53_HUMAN C182S Disease P53_HUMAN C277G Disease P53_HUMAN D228E Disease P53_HUMAN E339K Polymorphism P53_HUMAN G187S Disease P53_HUMAN G302E Disease P53_HUMAN H193R Disease P53_HUMAN I162V Disease P53_HUMAN I251N Disease P53_HUMAN M169T Disease P53_HUMAN N131K Disease P53_HUMAN P128S Disease P53_HUMAN P152L Disease P53_HUMAN P190L Disease P53_HUMAN P301L Disease P53_HUMAN P309S Disease P53_HUMAN P47S Polymorphism P53_HUMAN P72R Polymorphism P53_HUMAN Q165R Disease P53_HUMAN R158H Disease P53_HUMAN R181L Disease P53_HUMAN R273H Disease P53_HUMAN R306Q Disease P53_HUMAN S166L Disease P53_HUMAN S366A Polymorphism P53_HUMAN S94T Disease P53_HUMAN T155A Disease P53_HUMAN T284A Disease P53_HUMAN V157I Disease P53_HUMAN V172A Disease P53_HUMAN Y220H Disease P73L_HUMAN S560A Disease PA21B_HUMAN N89K Polymorphism PA21B_HUMAN N89T Polymorphism PA24A_HUMAN V224I Polymorphism PA24C_HUMAN A38P Polymorphism PA24C_HUMAN D411N Polymorphism PA24C_HUMAN I143V Polymorphism PA24C_HUMAN R148G Polymorphism PA24C_HUMAN T226S Polymorphism PA2G3_HUMAN L157V Polymorphism PA2G6_HUMAN A343T Polymorphism PA2G6_HUMAN D183N Polymorphism PA2G6_HUMAN V58I Polymorphism PA2GA_HUMAN H19Y Polymorphism PA2GD_HUMAN S80G Polymorphism PACA_HUMAN D54G Polymorphism PADI3_HUMAN I52V Polymorphism PADI3_HUMAN V171M Polymorphism PADI4_HUMAN A112G Polymorphism PADI4_HUMAN A82V Polymorphism PADI4_HUMAN S275F Polymorphism PADI4_HUMAN S55G Polymorphism PAFA_HUMAN I198T Polymorphism PAFA_HUMAN R92H Polymorphism PAHX_HUMAN N269H Disease PAHX_HUMAN P173S Disease PAI1_HUMAN A15T Polymorphism PAI1_HUMAN H25P Polymorphism PAI1_HUMAN R209H Polymorphism PAI1_HUMAN T255N Polymorphism PAI1_HUMAN V17I Polymorphism PAI2_HUMAN N120D Polymorphism PAI2_HUMAN N404K Polymorphism PAI2_HUMAN R229H Polymorphism PAI2_HUMAN S413C Polymorphism PAK6_HUMAN H215R Polymorphism PAK6_HUMAN M76V Polymorphism PAK7_HUMAN S511N Polymorphism PANK2_HUMAN L282V Disease PANK2_HUMAN T528M Disease PANK4_HUMAN Q684R Polymorphism PAPPA_HUMAN R945S Polymorphism PAPPA_HUMAN S1225Y Polymorphism PAPS2_HUMAN V291M Polymorphism PAR1_HUMAN S166G Polymorphism PAR2_HUMAN R270Q Polymorphism PAR2_HUMAN T291A Polymorphism PAR3_HUMAN M177V Polymorphism PAR3_HUMAN N250D Polymorphism PAR3L_HUMAN L165P Polymorphism PAR4_HUMAN P310L Polymorphism PARK7_HUMAN D149A Disease PARK7_HUMAN E64D Disease PARK7_HUMAN R98Q Polymorphism PARP1_HUMAN A187T Polymorphism PARP1_HUMAN K939R Polymorphism PARP1_HUMAN V333I Polymorphism PARP1_HUMAN V761A Polymorphism PARP2_HUMAN I285V Polymorphism PARP2_HUMAN N168S Polymorphism PARP2_HUMAN R296Q Polymorphism PARP2_HUMAN S161N Polymorphism PARVB_HUMAN V58A Polymorphism PAX2_HUMAN A334V Polymorphism PAX6_HUMAN A79E Disease PAX6_HUMAN M381V Disease PAX6_HUMAN Q178H Disease PAX6_HUMAN R44Q Disease PAX6_HUMAN S353A Disease PAX8_HUMAN F329L Polymorphism PAX9_HUMAN G51S Disease PCCA_HUMAN A50P Disease PCCA_HUMAN G172E Disease PCCA_HUMAN G606R Disease PCCA_HUMAN I450V Polymorphism PCCA_HUMAN P398L Disease PCCA_HUMAN V526F Polymorphism PCCA_HUMAN W534L Disease PCCB_HUMAN A468T Disease PCCB_HUMAN A497V Disease PCCB_HUMAN E168K Disease PCCB_HUMAN G188R Disease PCCB_HUMAN G198D Disease PCCB_HUMAN I430L Disease PCCB_HUMAN R67S Disease PCCB_HUMAN T428I Disease PCCB_HUMAN V107M Disease PCD12_HUMAN H385N Polymorphism PCD12_HUMAN S640N Polymorphism PCD15_HUMAN G262D Disease PCD15_HUMAN Q1342K Disease PCD15_HUMAN R134G Disease PCDA1_HUMAN Y732C Polymorphism PCDA3_HUMAN I318V Polymorphism PCDA8_HUMAN N403T Polymorphism PCDA8_HUMAN S78N Polymorphism PCDB2_HUMAN V128I Polymorphism PCDB3_HUMAN R414S Polymorphism PCDB4_HUMAN A421T Polymorphism PCDB6_HUMAN V231I Polymorphism PCDB7_HUMAN V389L Polymorphism PCDB8_HUMAN K305E Polymorphism PCDBB_HUMAN Q4R Polymorphism PCDBF_HUMAN R494Q Polymorphism PCDBF_HUMAN S474R Polymorphism PCDG1_HUMAN V152I Polymorphism PCDGI_HUMAN A722T Polymorphism PCDGI_HUMAN P684S Polymorphism PCOC2_HUMAN P292T Polymorphism PCP_HUMAN E112D Polymorphism PCSK9_HUMAN A443T Polymorphism PCSK9_HUMAN A53V Polymorphism PCSK9_HUMAN E670G Polymorphism PCSK9_HUMAN F216L Disease PCSK9_HUMAN I474V Polymorphism PCSK9_HUMAN N425S Polymorphism PDE6B_HUMAN E166K Polymorphism PDE6B_HUMAN G576D Disease PDE6B_HUMAN L699R Disease PDE6B_HUMAN R552Q Disease PDE6B_HUMAN Y219H Disease PDGFB_HUMAN I88V Polymorphism PDIA6_HUMAN K214R Polymorphism PDL2_HUMAN F229S Polymorphism PDLI1_HUMAN N174S Polymorphism PDRN4_HUMAN G429S Polymorphism PE2R1_HUMAN A71T Polymorphism PE2R3_HUMAN M169L Polymorphism PECA1_HUMAN L125V Polymorphism PECR_HUMAN E149K Polymorphism PEDF_HUMAN M72T Polymorphism PELO_HUMAN M221L Polymorphism PEMT_HUMAN M174V Polymorphism PEND_HUMAN A411P Disease PEND_HUMAN D271H Disease PEND_HUMAN E29Q Disease PEND_HUMAN F335L Disease PEND_HUMAN G139A Disease PEND_HUMAN G209V Disease PEND_HUMAN G497S Disease PEND_HUMAN H723R Disease PEND_HUMAN I455F Disease PEND_HUMAN I490L Disease PEND_HUMAN K369E Disease PEND_HUMAN L597S Disease PEND_HUMAN S133T Disease PEND_HUMAN S137P Disease PEND_HUMAN S252P Disease PEND_HUMAN S28R Disease PEND_HUMAN T193I Disease PEND_HUMAN V138F Disease PEND_HUMAN Y530H Disease PEO1_HUMAN V368I Disease PEPA_HUMAN A265T Polymorphism PEPA_HUMAN L353V Polymorphism PEPA_HUMAN Q222K Polymorphism PEPD_HUMAN L434F Polymorphism PER3_HUMAN P827L Polymorphism PERE_HUMAN N572Y Polymorphism PERL_HUMAN A244T Polymorphism PERL_HUMAN D700N Polymorphism PERL_HUMAN I614T Polymorphism PERL_HUMAN R514Q Polymorphism PERL_HUMAN V421M Polymorphism PERM_HUMAN E683Q Polymorphism PERM_HUMAN I717V Polymorphism PERM_HUMAN M251T Disease PERT_HUMAN A257S Polymorphism PERT_HUMAN A373S Polymorphism PERT_HUMAN D240N Disease PERT_HUMAN G493S Disease PERT_HUMAN P725T Polymorphism PERT_HUMAN R648Q Disease PERT_HUMAN R693W Disease PERT_HUMAN S398T Polymorphism PGAM4_HUMAN R90Q Polymorphism PGH1_HUMAN I443V Polymorphism PGH1_HUMAN K359R Polymorphism PGH1_HUMAN L237M Polymorphism PGH1_HUMAN R53H Polymorphism PGH2_HUMAN G587R Polymorphism PGH2_HUMAN P428A Polymorphism PGH2_HUMAN R228H Polymorphism PGH2_HUMAN V511A Polymorphism PGK1_HUMAN E251A Disease PGK1_HUMAN G157V Disease PGM1_HUMAN K67M Polymorphism PGM1_HUMAN R220C Polymorphism PGM1_HUMAN Y419H Polymorphism PGS2_HUMAN E273Q Polymorphism PGS2_HUMAN T268M Polymorphism PGTA_HUMAN T420A Polymorphism PH4H_HUMAN A104D Disease PH4H_HUMAN A246D Disease PH4H_HUMAN A300S Disease PH4H_HUMAN A322G Disease PH4H_HUMAN A322T Disease PH4H_HUMAN A403V Disease PH4H_HUMAN C217G Disease PH4H_HUMAN C334S Disease PH4H_HUMAN D394A Disease PH4H_HUMAN D394H Disease PH4H_HUMAN D415N Disease PH4H_HUMAN E205A Disease PH4H_HUMAN E221G Disease PH4H_HUMAN E56D Disease PH4H_HUMAN E76A Disease PH4H_HUMAN F233L Disease PH4H_HUMAN F263L Disease PH4H_HUMAN F39L Disease PH4H_HUMAN F55L Disease PH4H_HUMAN G171A Disease PH4H_HUMAN G171R Disease PH4H_HUMAN G218V Disease PH4H_HUMAN G46S Disease PH4H_HUMAN H170R Disease PH4H_HUMAN H201R Disease PH4H_HUMAN H201Y Disease PH4H_HUMAN H264L Disease PH4H_HUMAN I164T Disease PH4H_HUMAN I174T Disease PH4H_HUMAN I174V Disease PH4H_HUMAN I269L Disease PH4H_HUMAN I283F Disease PH4H_HUMAN I306V Disease PH4H_HUMAN I318T Disease PH4H_HUMAN K274E Polymorphism PH4H_HUMAN K341R Disease PH4H_HUMAN L348V Disease PH4H_HUMAN L41P Disease PH4H_HUMAN L98S Disease PH4H_HUMAN N167S Disease PH4H_HUMAN N207D Disease PH4H_HUMAN P175A Disease PH4H_HUMAN P314H Disease PH4H_HUMAN P362T Disease PH4H_HUMAN P407S Disease PH4H_HUMAN Q20L Disease PH4H_HUMAN R176L Disease PH4H_HUMAN R241C Disease PH4H_HUMAN R252G Disease PH4H_HUMAN R252Q Disease PH4H_HUMAN R261P Disease PH4H_HUMAN R261Q Disease PH4H_HUMAN R297H Disease PH4H_HUMAN R68S Disease PH4H_HUMAN S231P Disease PH4H_HUMAN S273F Disease PH4H_HUMAN S87R Disease PH4H_HUMAN T278A Disease PH4H_HUMAN T92I Disease PH4H_HUMAN V177L Disease PH4H_HUMAN V190A Disease PH4H_HUMAN V230I Disease PH4H_HUMAN V245A Disease PH4H_HUMAN V245L Disease PH4H_HUMAN V388L Disease PH4H_HUMAN V388M Disease PH4H_HUMAN Y343C Disease PH4H_HUMAN Y377C Disease PHB_HUMAN R105H Disease PHEX_HUMAN A720T Disease PHEX_HUMAN C142F Disease PHEX_HUMAN C85Y Disease PHEX_HUMAN D237G Disease PHEX_HUMAN F252S Disease PHEX_HUMAN F731Y Disease PHEX_HUMAN M253I Disease PHEX_HUMAN N680K Disease PHEX_HUMAN P534L Disease PHEX_HUMAN Q621R Disease PHEX_HUMAN R567P Disease PHEX_HUMAN S141P Disease PHEX_HUMAN Y317F Disease PHF14_HUMAN R115K Polymorphism PHF6_HUMAN K234E Disease PHS1_HUMAN R714S Polymorphism PHS1_HUMAN V221I Polymorphism PHS1_HUMAN V230E Polymorphism PHS2_HUMAN A703V Disease PHS2_HUMAN G204S Disease PHS2_HUMAN G685R Disease PHS2_HUMAN T487N Disease PHS3_HUMAN D501N Polymorphism PHS_HUMAN R87Q Disease P_HUMAN A334V Disease P_HUMAN A368V Disease P_HUMAN A481T Disease P_HUMAN C112F Disease P_HUMAN D257A Polymorphism P_HUMAN G27R Disease P_HUMAN H615R Polymorphism P_HUMAN I473S Disease P_HUMAN I617L Disease P_HUMAN I722T Polymorphism P_HUMAN K614E Disease P_HUMAN L440F Polymorphism P_HUMAN M446V Disease P_HUMAN R419Q Polymorphism PHX2A_HUMAN A72V Disease PIGA_HUMAN G239R Disease PIGA_HUMAN H128R Disease PIGA_HUMAN N297D Disease PIGC_HUMAN P266S Polymorphism PIGQ_HUMAN T13A Polymorphism PIGR_HUMAN A580V Polymorphism PIMT_HUMAN I119V Polymorphism PINK1_HUMAN A340T Polymorphism PK1L1_HUMAN E2410K Polymorphism PKD1_HUMAN A88V Polymorphism PKD1_HUMAN E2548Q Polymorphism PKD1_HUMAN F3066L Polymorphism PKD1_HUMAN G2814R Polymorphism PKD1_HUMAN G3139V Polymorphism PKD1_HUMAN H3311R Polymorphism PKD1_HUMAN I4045V Polymorphism PKD1_HUMAN L2696R Disease PKD1_HUMAN L2816P Disease PKD1_HUMAN M3678T Disease PKD1_HUMAN P1786L Polymorphism PKD1_HUMAN P2674S Polymorphism PKD1_HUMAN R2746P Polymorphism PKD1_HUMAN R2791Q Disease PKD1_HUMAN R2985G Disease PKD1_HUMAN R3247H Disease PKD1_HUMAN T2582M Polymorphism PKD1_HUMAN V2905I Polymorphism PKD1_HUMAN V3285I Disease PKD1_HUMAN V4058A Polymorphism PKD1_HUMAN W1399R Polymorphism PKD2_HUMAN I452V Polymorphism PKHD1_HUMAN A1262V Polymorphism PKHD1_HUMAN D3088N Polymorphism PKHD1_HUMAN G1122S Disease PKHD1_HUMAN L1870V Polymorphism PKHD1_HUMAN R760C Polymorphism PKHD1_HUMAN S2861G Disease PKHD1_HUMAN S3505R Polymorphism PKHD1_HUMAN T2938M Polymorphism PKHD1_HUMAN V2032L Disease PKN1_HUMAN V901I Polymorphism PLCB_HUMAN A239V Disease PLCG1_HUMAN I813T Polymorphism PLCG1_HUMAN S279G Polymorphism PLD1_HUMAN A622S Polymorphism PLD1_HUMAN V820M Polymorphism PLK3_HUMAN L283F Polymorphism PLK3_HUMAN S498L Polymorphism PLK3_HUMAN T61S Polymorphism PLK4_HUMAN T232S Polymorphism PLMN_HUMAN A620T Disease PLMN_HUMAN E57K Polymorphism PLMN_HUMAN I46R Polymorphism PLMN_HUMAN K453I Polymorphism PLMN_HUMAN R235H Disease PLMN_HUMAN R408W Polymorphism PLMN_HUMAN R523W Polymorphism PLMN_HUMAN V374F Disease PLOD1_HUMAN A99T Polymorphism PLS3_HUMAN I293V Polymorphism PLS4_HUMAN S34N Polymorphism PLS4_HUMAN V155I Polymorphism PLSL_HUMAN D24E Polymorphism PLTP_HUMAN F444L Polymorphism PLTP_HUMAN R282Q Polymorphism PLTP_HUMAN S124Y Polymorphism PLXB3_HUMAN M1535T Polymorphism PLXB3_HUMAN V598I Polymorphism PLXD1_HUMAN M870V Polymorphism PMM2_HUMAN A233T Disease PMM2_HUMAN D148N Disease PMM2_HUMAN D223E Disease PMM2_HUMAN E197A Disease PMM2_HUMAN F172V Disease PMM2_HUMAN G15E Disease PMM2_HUMAN I153T Disease PMM2_HUMAN N101K Disease PMM2_HUMAN P20S Disease PMM2_HUMAN P69S Disease PMM2_HUMAN V129M Disease PMM2_HUMAN Y64C Disease PMP22_HUMAN I137V Polymorphism PMS1_HUMAN E27Q Polymorphism PMS1_HUMAN M394T Polymorphism PMS1_HUMAN R202K Polymorphism PMS1_HUMAN Y793H Polymorphism PMS2_HUMAN H479Q Polymorphism PMS2_HUMAN M622I Polymorphism PMS2_HUMAN N775S Polymorphism PMS2_HUMAN P470S Polymorphism PMS2_HUMAN R20Q Polymorphism PMS2_HUMAN T277K Polymorphism PMS2_HUMAN T597S Polymorphism PNKP_HUMAN R180S Polymorphism PNPH_HUMAN D128G Disease PNPH_HUMAN R234P Disease PNPH_HUMAN S51G Polymorphism PO3F4_HUMAN R330S Disease PODO_HUMAN D160G Disease PODO_HUMAN R138Q Disease PODO_HUMAN V180M Disease PODXL_HUMAN L196S Polymorphism POLH_HUMAN M595V Polymorphism POLH_HUMAN M647L Polymorphism POLI_HUMAN E251K Polymorphism POLI_HUMAN I236M Polymorphism POLI_HUMAN T706A Polymorphism POLK_HUMAN I612V Polymorphism POLK_HUMAN T595I Polymorphism PON1_HUMAN I101V Polymorphism PON1_HUMAN M54L Polymorphism PON1_HUMAN Q191R Polymorphism PON2_HUMAN A148G Polymorphism PON2_HUMAN C311S Polymorphism PON2_HUMAN V172L Polymorphism PON3_HUMAN E146K Polymorphism POT15_HUMAN C64W Polymorphism POT15_HUMAN C68R Polymorphism POT15_HUMAN K511E Polymorphism POT15_HUMAN M43V Polymorphism POT15_HUMAN M535K Polymorphism POT15_HUMAN N88D Polymorphism POT15_HUMAN Q286E Polymorphism POT15_HUMAN T77K Polymorphism PPA5_HUMAN V148M Polymorphism PPA6_HUMAN M316V Polymorphism PPAC_HUMAN Q105R Polymorphism PPARA_HUMAN A268V Polymorphism PPARA_HUMAN L162V Polymorphism PPARA_HUMAN V227A Polymorphism PPARG_HUMAN F388L Disease PPARG_HUMAN R316H Disease PPARG_HUMAN R425C Disease PPBI_HUMAN H298L Polymorphism PPBT_HUMAN A116T Disease PPBT_HUMAN A132V Disease PPBT_HUMAN A176T Disease PPBT_HUMAN A177T Disease PPBT_HUMAN A179T Disease PPBT_HUMAN A348T Disease PPBT_HUMAN A399S Disease PPBT_HUMAN A40V Disease PPBT_HUMAN A51V Disease PPBT_HUMAN D294A Disease PPBT_HUMAN D294Y Disease PPBT_HUMAN D306V Disease PPBT_HUMAN D406G Disease PPBT_HUMAN E191G Disease PPBT_HUMAN E191K Disease PPBT_HUMAN G326R Disease PPBT_HUMAN G426C Disease PPBT_HUMAN G75S Disease PPBT_HUMAN K224E Disease PPBT_HUMAN M62L Disease PPBT_HUMAN N170D Disease PPBT_HUMAN N211D Disease PPBT_HUMAN Q207P Disease PPBT_HUMAN R136H Disease PPBT_HUMAN R152H Disease PPBT_HUMAN R223W Disease PPBT_HUMAN R246S Disease PPBT_HUMAN R450H Disease PPBT_HUMAN S181L Disease PPBT_HUMAN T134N Disease PPBT_HUMAN V423A Disease PPBT_HUMAN Y263H Polymorphism PPBT_HUMAN Y436H Disease PPCKC_HUMAN E276K Polymorphism PPCKC_HUMAN I267V Polymorphism PPCKC_HUMAN M60T Polymorphism PPCKC_HUMAN R55Q Polymorphism PPCKC_HUMAN T138I Polymorphism PPCKC_HUMAN V368I Polymorphism PPE2_HUMAN S120R Polymorphism PPGB_HUMAN F440V Disease PPID_HUMAN G334E Polymorphism PPID_HUMAN L301I Polymorphism PPID_HUMAN R48C Polymorphism PPIL3_HUMAN D146E Polymorphism PPIP1_HUMAN R149L Polymorphism PPOX_HUMAN R168C Polymorphism PPOX_HUMAN R304H Polymorphism PPT1_HUMAN D79G Disease PPT1_HUMAN G250V Disease PPT1_HUMAN G42E Disease PPT1_HUMAN T75P Disease PR285_HUMAN E2049Q Polymorphism PR285_HUMAN L2016P Polymorphism PR285_HUMAN N788S Polymorphism PR285_HUMAN R1123H Polymorphism PRAX_HUMAN A406T Polymorphism PRAX_HUMAN E1259K Polymorphism PRAX_HUMAN E495Q Polymorphism PRAX_HUMAN R1132G Polymorphism PRAX_HUMAN V882A Polymorphism PRD10_HUMAN T487A Polymorphism PRDM1_HUMAN G38S Polymorphism PRELP_HUMAN N348H Polymorphism PRGC1_HUMAN G482S Polymorphism PRGR_HUMAN A444S Polymorphism PRGR_HUMAN L651V Polymorphism PRGR_HUMAN L660V Polymorphism PRGR_HUMAN Q536P Polymorphism PRGR_HUMAN S865L Polymorphism PRGR_HUMAN V529L Polymorphism PRIO_HUMAN E211Q Disease PRIO_HUMAN E219K Polymorphism PRIO_HUMAN H187R Disease PRIO_HUMAN N171S Polymorphism PRIO_HUMAN V180I Disease PRIO_HUMAN V203I Disease PRIO_HUMAN V210I Disease PRKDC_HUMAN G3404E Polymorphism PRKDC_HUMAN I3434T Polymorphism PRKDC_HUMAN I680M Polymorphism PRKDC_HUMAN K2702E Polymorphism PRKDC_HUMAN L3562M Polymorphism PRKDC_HUMAN N1071S Polymorphism PRKDC_HUMAN N3459S Polymorphism PRKDC_HUMAN P3201S Polymorphism PRKDC_HUMAN P3836L Polymorphism PRKN2_HUMAN D280N Disease PRKN2_HUMAN G328E Disease PRKN2_HUMAN K211R Disease PRKN2_HUMAN R33Q Disease PRKN2_HUMAN R366W Polymorphism PRKN2_HUMAN T351P Disease PRKN2_HUMAN V380L Polymorphism PRND_HUMAN F70L Polymorphism PRND_HUMAN P56L Polymorphism PROC_HUMAN A178P Disease PROC_HUMAN A301T Disease PROC_HUMAN A301V Disease PROC_HUMAN A309T Disease PROC_HUMAN A388T Disease PROC_HUMAN A388V Disease PROC_HUMAN F118L Disease PROC_HUMAN G114R Disease PROC_HUMAN G324R Disease PROC_HUMAN G334S Disease PROC_HUMAN G392R Disease PROC_HUMAN G423S Disease PROC_HUMAN G433S Disease PROC_HUMAN H108N Disease PROC_HUMAN I445M Disease PROC_HUMAN L265F Disease PROC_HUMAN M385I Disease PROC_HUMAN N298D Disease PROC_HUMAN P321L Disease PROC_HUMAN P369L Disease PROC_HUMAN Q226H Disease PROC_HUMAN R189W Disease PROC_HUMAN R194C Disease PROC_HUMAN R211Q Disease PROC_HUMAN R220P Disease PROC_HUMAN R220Q Disease PROC_HUMAN R271Q Disease PROC_HUMAN R271W Disease PROC_HUMAN R328C Disease PROC_HUMAN R328H Disease PROC_HUMAN R38W Disease PROC_HUMAN S161R Disease PROC_HUMAN S294N Disease PROC_HUMAN S312P Disease PROC_HUMAN T340M Disease PROC_HUMAN V367A Disease PROC_HUMAN Y441H Disease PROP1_HUMAN A142T Polymorphism PROP_HUMAN G250S Polymorphism PROP_HUMAN P204L Polymorphism PROP_HUMAN Q343R Disease PROP_HUMAN Y414D Disease PROS_HUMAN K196E Disease PROS_HUMAN N258S Disease PRP16_HUMAN A1217T Polymorphism PRP8_HUMAN N1293H Polymorphism PRP8_HUMAN P874L Polymorphism PRPS1_HUMAN A189V Disease PRPS1_HUMAN D51H Disease PRPS1_HUMAN H192Q Disease PRPS1_HUMAN L128I Disease PRPS1_HUMAN N113S Disease PRTN3_HUMAN A135T Polymorphism PRTN3_HUMAN T136S Polymorphism PRTN3_HUMAN V119I Polymorphism PS1C2_HUMAN G25D Polymorphism PSARL_HUMAN L262V Polymorphism PSB4_HUMAN M95I Polymorphism PSB4_HUMAN T234I Polymorphism PSB6_HUMAN P107A Polymorphism PSB7_HUMAN V39A Polymorphism PSB9_HUMAN R60H Polymorphism PSCBP_HUMAN D37N Polymorphism PSG2_HUMAN V20L Polymorphism PSG3_HUMAN P30L Polymorphism PSG4_HUMAN V75L Polymorphism PSG5_HUMAN K154N Polymorphism PSG6_HUMAN A258T Polymorphism PSG6_HUMAN I167T Polymorphism PSG6_HUMAN I404S Polymorphism PSG6_HUMAN K196E Polymorphism PSG6_HUMAN K253N Polymorphism PSG6_HUMAN L155F Polymorphism PSG6_HUMAN L180W Polymorphism PSG6_HUMAN L181M Polymorphism PSG6_HUMAN L257S Polymorphism PSG6_HUMAN N185S Polymorphism PSG6_HUMAN R165L Polymorphism PSG6_HUMAN R191S Polymorphism PSG6_HUMAN R344H Polymorphism PSMF1_HUMAN H174R Polymorphism PSN1_HUMAN A231V Disease PSN1_HUMAN E120D Disease PSN1_HUMAN E120K Disease PSN1_HUMAN E318G Polymorphism PSN1_HUMAN M146V Disease PSN1_HUMAN M233T Disease PSN1_HUMAN N135D Disease PSN1_HUMAN P117L Disease PSN1_HUMAN V82L Disease PSN2_HUMAN M239V Disease PSPB_HUMAN T131I Polymorphism PSPC_HUMAN N138T Polymorphism PSPC_HUMAN N186S Polymorphism PSYR_HUMAN I231L Polymorphism PTAFR_HUMAN A224D Polymorphism PTC1_HUMAN L1315P Polymorphism PTC2_HUMAN E493K Polymorphism PTEN_HUMAN C124S Disease PTEN_HUMAN D19N Disease PTEN_HUMAN G129E Disease PTEN_HUMAN G165V Disease PTEN_HUMAN I135V Disease PTEN_HUMAN L42R Disease PTEN_HUMAN M134L Disease PTEN_HUMAN P246L Disease PTEN_HUMAN R130L Disease PTEN_HUMAN R234Q Disease PTEN_HUMAN V158L Disease PTEN_HUMAN V217I Disease PTGDS_HUMAN A12V Polymorphism PTGDS_HUMAN A99G Polymorphism PTGDS_HUMAN D19G Polymorphism PTGDS_HUMAN G100D Polymorphism PTGDS_HUMAN L77F Polymorphism PTGDS_HUMAN Q127H Polymorphism PTGDS_HUMAN Q36P Polymorphism PTGDS_HUMAN R56Q Polymorphism PTGDS_HUMAN T176S Polymorphism PTGDS_HUMAN T73A Polymorphism PTGDS_HUMAN V16L Polymorphism PTGIS_HUMAN E154A Polymorphism PTGIS_HUMAN F171L Polymorphism PTGIS_HUMAN R379S Polymorphism PTN11_HUMAN A72G Disease PTN11_HUMAN A72S Disease PTN11_HUMAN E76A Disease PTN11_HUMAN E76D Disease PTN11_HUMAN F285L Disease PTN11_HUMAN F285S Disease PTN11_HUMAN G503A Disease PTN11_HUMAN G503R Disease PTN11_HUMAN I282V Disease PTN11_HUMAN I309V Disease PTN11_HUMAN M504V Disease PTN11_HUMAN N308S Disease PTN11_HUMAN R501K Disease PTN11_HUMAN T468M Disease PTN12_HUMAN I322V Polymorphism PTN12_HUMAN K61R Disease PTN1_HUMAN G381S Polymorphism PTN23_HUMAN A944T Polymorphism PTN23_HUMAN P1099S Disease PTPR2_HUMAN V343M Polymorphism PTPRF_HUMAN D552N Polymorphism PTPRJ_HUMAN Q276P Disease PTPRT_HUMAN A707V Disease PTPRT_HUMAN D927G Disease PTPRT_HUMAN I395V Disease PTPRT_HUMAN M1259L Disease PTPRT_HUMAN N1128I Disease PTPRT_HUMAN N510K Disease PTPRT_HUMAN Q987K Disease PTPRT_HUMAN R1346L Disease PTPRT_HUMAN V1269M Disease PTPS_HUMAN D96N Disease PTPS_HUMAN I114V Disease PTPS_HUMAN K129E Disease PTPS_HUMAN N52S Disease PTPS_HUMAN P87S Disease PTPS_HUMAN R25Q Disease PTPS_HUMAN T106M Disease PUR2_HUMAN D752G Polymorphism PUR2_HUMAN L21F Polymorphism PUR2_HUMAN V421I Polymorphism PUR8_HUMAN D268N Disease PUR8_HUMAN D430N Disease PUR8_HUMAN I72V Disease PUR8_HUMAN K246E Disease PUR8_HUMAN L311V Disease PUR8_HUMAN L423V Disease PUR8_HUMAN M26L Disease PUR8_HUMAN P100A Disease PUR8_HUMAN R190Q Disease PUR8_HUMAN R194C Disease PUR8_HUMAN S395R Disease PUR9_HUMAN K426R Disease PUR9_HUMAN T116S Polymorphism PVR_HUMAN A67T Polymorphism PVR_HUMAN I340M Polymorphism PXMP4_HUMAN V203I Polymorphism PXR_HUMAN G36R Polymorphism PXR_HUMAN I403V Polymorphism PXR_HUMAN P27S Polymorphism PXR_HUMAN R122Q Polymorphism PXR_HUMAN R148Q Polymorphism PYC_HUMAN V145A Disease PYR5_HUMAN G213A Polymorphism PYR5_HUMAN I446V Polymorphism PYRD_HUMAN K7Q Polymorphism PZP_HUMAN V691M Polymorphism PZP_HUMAN V813A Polymorphism QOR_HUMAN I176V Polymorphism QOR_HUMAN P66S Polymorphism QPCT_HUMAN Q71R Polymorphism RA51C_HUMAN T287A Polymorphism RA51D_HUMAN R165Q Polymorphism RA51D_HUMAN R232Q Polymorphism RA54B_HUMAN D418Y Disease RA54B_HUMAN N593S Disease RAB14_HUMAN T4A Polymorphism RAB17_HUMAN L191P Polymorphism RAB20_HUMAN N134S Polymorphism RAB23_HUMAN G207S Polymorphism RAB34_HUMAN V197L Polymorphism RAC1_HUMAN F28L Polymorphism RAC1_HUMAN K130R Polymorphism RAC1_HUMAN K133E Polymorphism RAC1_HUMAN N26D Polymorphism RAC1_HUMAN T108I Polymorphism RAC1_HUMAN V93I Polymorphism RAD17_HUMAN V32I Polymorphism RAD18_HUMAN I307V Polymorphism RAD18_HUMAN Q302R Polymorphism RAD51_HUMAN R150Q Disease RAD52_HUMAN Q221E Polymorphism RAD54_HUMAN K151E Polymorphism RAD54_HUMAN V444E Disease RAE1_HUMAN Q471L Disease RAF1_HUMAN P308L Polymorphism RAG1_HUMAN D302E Polymorphism RAG1_HUMAN E880K Polymorphism RAG1_HUMAN K820R Polymorphism RAG1_HUMAN R244G Polymorphism RAG1_HUMAN R249H Polymorphism RAGE_HUMAN Q100R Polymorphism RALY_HUMAN G251S Polymorphism RASA1_HUMAN I401V Disease RASF7_HUMAN R156Q Polymorphism RASH_HUMAN G12S Disease RASH_HUMAN G12V Disease RASH_HUMAN Q61L Disease RASK_HUMAN A59T Disease RASK_HUMAN G12R Disease RASK_HUMAN G12S Disease RASK_HUMAN G12V Disease RASN_HUMAN G13R Disease RBCC1_HUMAN T234M Polymorphism RBFAL_HUMAN M122V Polymorphism RB_HUMAN A635P Disease RB_HUMAN H549Y Disease RB_HUMAN K447Q Disease RB_HUMAN Q436K Polymorphism RB_HUMAN R358Q Disease RB_HUMAN R500G Disease RBM13_HUMAN Q277R Polymorphism RBM19_HUMAN A665T Polymorphism RBM19_HUMAN T623I Polymorphism RBP2_HUMAN P1892A Polymorphism RBP2_HUMAN R784K Polymorphism RCN1_HUMAN Q74E Polymorphism RD23A_HUMAN R179Q Polymorphism RD23A_HUMAN T131A Polymorphism RD23A_HUMAN T200M Polymorphism RD23B_HUMAN A249V Polymorphism RDH12_HUMAN H151N Disease RDH12_HUMAN L99I Disease RDH12_HUMAN Y226C Disease RDH1_HUMAN A294P Disease RDH1_HUMAN C267W Disease RDH1_HUMAN I33V Polymorphism RDH1_HUMAN R280H Disease RDH1_HUMAN S73F Disease RDH1_HUMAN V132M Disease RDH1_HUMAN V164F Disease RDH1_HUMAN V177G Disease RDS_HUMAN S212T Disease RDS_HUMAN V268I Disease RECQ1_HUMAN K487T Polymorphism RECQ4_HUMAN R1005Q Polymorphism REL1_HUMAN K28M Polymorphism REL2_HUMAN P68Q Polymorphism RENI_HUMAN G217R Polymorphism REST_HUMAN D1069E Polymorphism RET_HUMAN A432E Disease RET_HUMAN A639G Disease RET_HUMAN A640G Disease RET_HUMAN A641G Disease RET_HUMAN A883F Disease RET_HUMAN C618F Disease RET_HUMAN C618Y Disease RET_HUMAN C620R Disease RET_HUMAN D489N Polymorphism RET_HUMAN E251K Disease RET_HUMAN E762Q Disease RET_HUMAN E768D Disease RET_HUMAN F174S Disease RET_HUMAN F893L Disease RET_HUMAN G691S Polymorphism RET_HUMAN G93S Disease RET_HUMAN K907E Disease RET_HUMAN L790F Disease RET_HUMAN M918T Disease RET_HUMAN N359K Disease RET_HUMAN P1039Q Polymorphism RET_HUMAN Q626K Disease RET_HUMAN R600Q Polymorphism RET_HUMAN R67H Disease RET_HUMAN R813Q Disease RET_HUMAN R844L Disease RET_HUMAN R982C Polymorphism RET_HUMAN S32L Disease RET_HUMAN S690P Disease RET_HUMAN S765P Disease RET_HUMAN S767R Disease RET_HUMAN S891A Disease RET_HUMAN T946M Disease RET_HUMAN V804L Disease RET_HUMAN V804M Disease RET_HUMAN Y791F Disease REV1_HUMAN F257S Polymorphism REV1_HUMAN N373S Polymorphism REXO4_HUMAN R141K Polymorphism RFA1_HUMAN T351A Polymorphism RFA2_HUMAN N203S Polymorphism RFC1_HUMAN E692D Polymorphism RFC1_HUMAN I598V Polymorphism RFC1_HUMAN Q955K Polymorphism RFC1_HUMAN R613L Polymorphism RFC2_HUMAN A232V Polymorphism RFC3_HUMAN L16V Polymorphism RFC4_HUMAN V292A Polymorphism RFIP1_HUMAN M1185T Polymorphism RFP2_HUMAN S355T Polymorphism RFRP_HUMAN D42G Polymorphism RFXK_HUMAN Q251E Polymorphism RGDSR_HUMAN H241Y Polymorphism RGDSR_HUMAN M342R Polymorphism RGDSR_HUMAN V378A Polymorphism RGR_HUMAN A234T Polymorphism RGR_HUMAN H152N Polymorphism RGR_HUMAN S241F Polymorphism RGR_HUMAN V132L Polymorphism RGS10_HUMAN A94V Polymorphism RGS12_HUMAN N1124S Polymorphism RHAG_HUMAN G279E Disease RHAG_HUMAN G280R Disease RHAG_HUMAN V270I Disease RHCE_HUMAN L59I Polymorphism RHCE_HUMAN N67S Polymorphism RHCE_HUMAN W15C Polymorphism RHD_HUMAN M217I Polymorphism RHG07_HUMAN E762V Polymorphism RHG07_HUMAN S772C Polymorphism RHG07_HUMAN V588A Polymorphism RHG26_HUMAN N417S Disease RIF1_HUMAN G836S Polymorphism RIF1_HUMAN L2418V Polymorphism RIF1_HUMAN N2021Y Polymorphism RIMB1_HUMAN A1140P Polymorphism RIMB1_HUMAN H1118L Polymorphism RIMB1_HUMAN Q514R Polymorphism RIP_HUMAN K103N Polymorphism RIPK1_HUMAN E234K Polymorphism RL10_HUMAN S201N Polymorphism RL3R2_HUMAN L329S Polymorphism RL8_HUMAN I97V Polymorphism RM03_HUMAN M261T Polymorphism RM40_HUMAN R129H Polymorphism RM49_HUMAN T9A Polymorphism RN5A_HUMAN G59S Polymorphism RN5A_HUMAN R462Q Polymorphism RNAS6_HUMAN R89Q Polymorphism RNF39_HUMAN A245T Polymorphism RNF39_HUMAN A304E Polymorphism RNF39_HUMAN D268N Polymorphism RNF39_HUMAN S203P Polymorphism RNPC1_HUMAN A155V Polymorphism RNPC1_HUMAN A177D Polymorphism RNPC1_HUMAN P189H Polymorphism RNZ2_HUMAN A541T Polymorphism RNZ2_HUMAN G806R Disease RNZ2_HUMAN R211Q Disease RNZ2_HUMAN S627L Polymorphism RO52_HUMAN E231K Polymorphism RO52_HUMAN G96R Polymorphism ROA1_HUMAN N72S Polymorphism ROBO3_HUMAN E319K Disease ROBO3_HUMAN G361E Disease ROBO3_HUMAN I66L Disease ROM1_HUMAN R229H Polymorphism ROM1_HUMAN R242Q Polymorphism ROR2_HUMAN A245T Polymorphism ROR2_HUMAN N620K Disease ROR2_HUMAN V819I Polymorphism RP1_HUMAN A1670T Polymorphism RP1_HUMAN S1691P Polymorphism RP1L1_HUMAN E795K Polymorphism RP1L1_HUMAN G2322E Polymorphism RP1L1_HUMAN P792L Polymorphism RP1L1_HUMAN R136H Polymorphism RP21_HUMAN Q77H Polymorphism RP9_HUMAN D170G Disease RPC62_HUMAN H243R Polymorphism RPE65_HUMAN A131T Disease RPE65_HUMAN L340S Disease RPE65_HUMAN N320K Disease RPE65_HUMAN P362T Disease RPE65_HUMAN R90Q Disease RPE65_HUMAN V286F Disease RPE65_HUMAN Y367H Disease RPF53_HUMAN R445K Polymorphism RPGR1_HUMAN K192E Polymorphism RPGR_HUMAN A262G Disease RPGR_HUMAN D312N Disease RPGR_HUMAN F130C Disease RPGR_HUMAN G173R Disease RPGR_HUMAN G275S Disease RPGR_HUMAN G43E Disease RPGR_HUMAN H98Q Disease RPGR_HUMAN I289V Disease RPGR_HUMAN I75V Disease RPGR_HUMAN N345D Polymorphism RPGR_HUMAN P235S Disease RPGR_HUMAN R127G Disease RPGR_HUMAN S76I Polymorphism RPGR_HUMAN T533M Polymorphism RPGR_HUMAN T99N Disease RPP38_HUMAN A114V Polymorphism RPP38_HUMAN A181G Polymorphism RRAS2_HUMAN Q72L Disease RRMJ3_HUMAN E91Q Polymorphism RRP44_HUMAN N269S Polymorphism RRP44_HUMAN T326R Polymorphism RS19_HUMAN G119R Disease RS19_HUMAN R100H Disease RS19_HUMAN R55Q Disease RS19_HUMAN T54M Disease RSF1_HUMAN D133E Polymorphism RSF1_HUMAN R53C Polymorphism RUNX1_HUMAN S431R Polymorphism RUNX1_HUMAN S433R Polymorphism RX_HUMAN D44E Polymorphism RXRA_HUMAN P261L Polymorphism RYR1_HUMAN R533H Disease RYR2_HUMAN Q2958R Polymorphism RYR3_HUMAN C693Y Polymorphism RYR3_HUMAN I494V Polymorphism RYR3_HUMAN S261R Polymorphism RYR3_HUMAN V731I Polymorphism S10A5_HUMAN D54G Polymorphism S12A1_HUMAN D648N Disease S12A3_HUMAN A728T Disease S12A3_HUMAN G741R Disease S12A3_HUMAN R655H Disease S13A1_HUMAN N174S Polymorphism S13A2_HUMAN I550V Polymorphism S13A2_HUMAN P385S Polymorphism S14L3_HUMAN D335E Polymorphism S15A1_HUMAN G419A Polymorphism S15A1_HUMAN S117N Polymorphism S15A1_HUMAN T451N Polymorphism S15A1_HUMAN V122M Polymorphism S15A1_HUMAN V450I Polymorphism S17A5_HUMAN K136E Disease S19A1_HUMAN H27R Polymorphism S22A3_HUMAN A116S Polymorphism S23IP_HUMAN K644E Polymorphism S26A2_HUMAN C653S Disease S26A2_HUMAN T689S Polymorphism S26A3_HUMAN C307W Polymorphism S26A3_HUMAN H124L Disease S26A3_HUMAN S206P Disease S26A6_HUMAN V206M Polymorphism S28A1_HUMAN E34G Polymorphism S28A1_HUMAN I189V Polymorphism S28A1_HUMAN N409S Polymorphism S28A1_HUMAN N521D Polymorphism S29A3_HUMAN F158S Polymorphism S29A3_HUMAN I239V Polymorphism S29A3_HUMAN R18G Polymorphism S29A3_HUMAN V326I Polymorphism S35B2_HUMAN L342V Polymorphism S39A2_HUMAN G129E Polymorphism S39A2_HUMAN M80V Polymorphism S39A4_HUMAN A357T Polymorphism S39A4_HUMAN C309Y Disease S39A4_HUMAN T114A Polymorphism S3TC1_HUMAN R785C Polymorphism S3TC2_HUMAN A468S Polymorphism S40A1_HUMAN A77D Disease S40A1_HUMAN Q248H Polymorphism S45A2_HUMAN D157N Disease S45A2_HUMAN E272K Polymorphism S45A2_HUMAN F374L Polymorphism S45A2_HUMAN G188V Disease S45A2_HUMAN W202C Disease S4A11_HUMAN T708A Polymorphism S5A2_HUMAN G183S Disease S5A2_HUMAN L113V Polymorphism S5A2_HUMAN V89L Polymorphism S6A13_HUMAN V398I Polymorphism S6A19_HUMAN D173N Disease S6A19_HUMAN R240Q Polymorphism S6A19_HUMAN V252I Polymorphism S6A20_HUMAN A9G Polymorphism SAA_HUMAN G15S Polymorphism SAC3_HUMAN M364L Polymorphism SAC3_HUMAN V654A Polymorphism SAHH_HUMAN D85N Polymorphism SALF_HUMAN Q544H Polymorphism SALL2_HUMAN R746G Polymorphism SALL2_HUMAN S122P Polymorphism SALL3_HUMAN V593L Polymorphism SALL4_HUMAN I798L Polymorphism SALL4_HUMAN L507R Polymorphism SAM50_HUMAN V345I Polymorphism SARDH_HUMAN M648V Polymorphism SARDH_HUMAN R614H Polymorphism SATT_HUMAN V399I Polymorphism SBDS_HUMAN R126T Disease SC10A_HUMAN A1073V Polymorphism SC10A_HUMAN L1092P Polymorphism SC10A_HUMAN V1713M Polymorphism SC5A1_HUMAN A468V Disease SC5A4_HUMAN A46T Polymorphism SC5A5_HUMAN A102P Polymorphism SC5A7_HUMAN I89V Polymorphism SC6A2_HUMAN F528C Polymorphism SC6A2_HUMAN G478S Polymorphism SC6A2_HUMAN I549T Polymorphism SC6A2_HUMAN K463R Polymorphism SC6A2_HUMAN N292T Polymorphism SC6A2_HUMAN N375S Polymorphism SC6A2_HUMAN T99I Polymorphism SC6A2_HUMAN V245I Polymorphism SC6A2_HUMAN V356L Polymorphism SC6A2_HUMAN V449I Polymorphism SC6A2_HUMAN V69I Polymorphism SC6A2_HUMAN Y548H Polymorphism SC6A3_HUMAN R237Q Polymorphism SC6A4_HUMAN G56A Polymorphism SC6A4_HUMAN K605N Polymorphism SC6A5_HUMAN D463N Polymorphism SC6A5_HUMAN Q184R Polymorphism SC6A5_HUMAN V751A Polymorphism SC6A6_HUMAN I17M Polymorphism SC6A6_HUMAN L18V Polymorphism SC6A6_HUMAN W236C Polymorphism SC6A7_HUMAN L345V Polymorphism SCAM3_HUMAN A235V Polymorphism SCAM3_HUMAN D242V Polymorphism SCAM3_HUMAN N239I Polymorphism SCAM3_HUMAN R38L Polymorphism SCAP_HUMAN V798I Polymorphism SCFD1_HUMAN K62R Polymorphism SCG1_HUMAN R417H Polymorphism SCG3_HUMAN S125N Polymorphism SCN1A_HUMAN A1067T Polymorphism SCN1A_HUMAN I1656M Disease SCN1A_HUMAN L986F Disease SCN1A_HUMAN V1353L Disease SCN1A_HUMAN W1204R Disease SCN4A_HUMAN A1156T Disease SCN4A_HUMAN A861D Polymorphism SCN4A_HUMAN D1376N Polymorphism SCN4A_HUMAN G1306A Disease SCN4A_HUMAN G1306E Disease SCN4A_HUMAN G524S Polymorphism SCN4A_HUMAN M135V Polymorphism SCN4A_HUMAN M1592V Disease SCN4A_HUMAN N559D Polymorphism SCN4A_HUMAN P1158S Disease SCN4A_HUMAN R1448H Disease SCN4A_HUMAN S804F Disease SCN4A_HUMAN T1313M Disease SCN4A_HUMAN V1293I Disease SCN4A_HUMAN V1589M Disease SCN5A_HUMAN A1924T Disease SCN5A_HUMAN A997S Disease SCN5A_HUMAN D1114N Disease SCN5A_HUMAN D1790G Disease SCN5A_HUMAN E1784K Disease SCN5A_HUMAN G298S Disease SCN5A_HUMAN H558R Polymorphism SCN5A_HUMAN K1500N Polymorphism SCN5A_HUMAN L1501V Disease SCN5A_HUMAN N1325S Disease SCN5A_HUMAN R1193Q Disease SCN5A_HUMAN R1623L Disease SCN5A_HUMAN R1623Q Disease SCN5A_HUMAN R1644H Disease SCN5A_HUMAN S1710L Disease SCN5A_HUMAN S1787N Disease SCN5A_HUMAN S941N Disease SCN5A_HUMAN T1645M Disease SCN5A_HUMAN T220I Disease SCN5A_HUMAN Y1795H Disease SCN9A_HUMAN R1161W Polymorphism SCNNB_HUMAN G589S Polymorphism SCNNB_HUMAN R597H Polymorphism SCNNB_HUMAN T594M Polymorphism SCNNB_HUMAN V434M Polymorphism SCNNG_HUMAN A614S Polymorphism SCNNG_HUMAN G183S Polymorphism SCNNG_HUMAN P502A Polymorphism SCO1_HUMAN P58S Polymorphism SCO2_HUMAN R20P Polymorphism SCOT_HUMAN T58M Polymorphism SCRB1_HUMAN G167S Polymorphism SCRB1_HUMAN S229G Polymorphism SCRB1_HUMAN V135I Polymorphism SCYBG_HUMAN I123T Polymorphism SCYBG_HUMAN V181A Polymorphism SDC4_HUMAN F12L Polymorphism SDCB1_HUMAN N69S Polymorphism SELPL_HUMAN M62I Polymorphism SEM3B_HUMAN T415I Disease SEM3D_HUMAN K701Q Polymorphism SEM3F_HUMAN A474G Polymorphism SEM3F_HUMAN L503M Polymorphism SEM5B_HUMAN D782V Polymorphism SEM5B_HUMAN T162I Polymorphism SEMG1_HUMAN S79T Polymorphism SEN54_HUMAN N347K Polymorphism SENP6_HUMAN Y1106C Polymorphism SENP8_HUMAN T207A Polymorphism SEPR_HUMAN R354T Polymorphism SEPT9_HUMAN V576M Polymorphism SERA_HUMAN V424M Disease SERA_HUMAN V489M Disease SERHL_HUMAN S46N Polymorphism SESN1_HUMAN L44I Polymorphism SESN2_HUMAN T320A Polymorphism SETB1_HUMAN A824P Polymorphism SETB2_HUMAN M473V Polymorphism SETX_HUMAN E1192D Polymorphism SETX_HUMAN I2587V Polymorphism SETX_HUMAN P1061L Polymorphism SETX_HUMAN R1252G Polymorphism SETX_HUMAN R2136H Disease SETX_HUMAN T1855A Polymorphism SEZ6L_HUMAN M430I Polymorphism SFR14_HUMAN S206G Polymorphism SFRS8_HUMAN P421L 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 SFTPD_HUMAN E309K Polymorphism SFTPD_HUMAN S290T Polymorphism SGCA_HUMAN P30L Disease SGCD_HUMAN Q97R Polymorphism SGCD_HUMAN S151A Disease SHBG_HUMAN D356N Polymorphism SHBG_HUMAN P185L Polymorphism SHBG_HUMAN R25H Polymorphism SHH_HUMAN A226T Disease SHH_HUMAN D222N Disease SHH_HUMAN D88V Disease SHOX_HUMAN R153L Disease SHPS1_HUMAN A388E Polymorphism SHPS1_HUMAN A75G Polymorphism SHPS1_HUMAN D40E Polymorphism SHPS1_HUMAN E100N Polymorphism SHPS1_HUMAN E189Q Polymorphism SHPS1_HUMAN E219G Polymorphism SHPS1_HUMAN E77K Polymorphism SHPS1_HUMAN E95D Polymorphism SHPS1_HUMAN F133L Polymorphism SHPS1_HUMAN G356S Polymorphism SHPS1_HUMAN H54R Polymorphism SHPS1_HUMAN I52T Polymorphism SHPS1_HUMAN K213N Polymorphism SHPS1_HUMAN N81H Polymorphism SHPS1_HUMAN P338S Polymorphism SHPS1_HUMAN P352L Polymorphism SHPS1_HUMAN P459L Polymorphism SHPS1_HUMAN P490L Polymorphism SHPS1_HUMAN Q162D Polymorphism SHPS1_HUMAN Q235R Polymorphism SHPS1_HUMAN Q442R Polymorphism SHPS1_HUMAN R125Q Polymorphism SHPS1_HUMAN R250Q Polymorphism SHPS1_HUMAN R275T Polymorphism SHPS1_HUMAN R369Q Polymorphism SHPS1_HUMAN S107C Polymorphism SHPS1_HUMAN S107R Polymorphism SHPS1_HUMAN S109G Polymorphism SHPS1_HUMAN S366P Polymorphism SHPS1_HUMAN S44L Polymorphism SHPS1_HUMAN S50T Polymorphism SHPS1_HUMAN S96L Polymorphism SHPS1_HUMAN T131V Polymorphism SHPS1_HUMAN T180S Polymorphism SHPS1_HUMAN V221I Polymorphism SHPS1_HUMAN V262M Polymorphism SHPS1_HUMAN V270I Polymorphism SHPS1_HUMAN V301L Polymorphism SHPS1_HUMAN V57A Polymorphism SIA8C_HUMAN K91T Polymorphism SIAS_HUMAN E68D Polymorphism SIG10_HUMAN R520S Polymorphism SIG10_HUMAN V226A Polymorphism SIGL1_HUMAN T478M Polymorphism SIGL1_HUMAN Y494S Polymorphism SIGL5_HUMAN F322S Polymorphism SIGL5_HUMAN M215V Polymorphism SIGL5_HUMAN P499A Polymorphism SIGL6_HUMAN L46V Polymorphism SIGL8_HUMAN S170P Polymorphism SIGL9_HUMAN A315E Polymorphism SIGL9_HUMAN K100E Polymorphism SIGL9_HUMAN N147K Polymorphism SIGL9_HUMAN S125N Polymorphism SIRT6_HUMAN S46N Polymorphism SIX3_HUMAN I105V Disease SIX3_HUMAN L226V Disease SKIL_HUMAN V38A Polymorphism SLC31_HUMAN E268K Disease SLC31_HUMAN M467K Disease SLC31_HUMAN M467T Disease SLC31_HUMAN M618I Polymorphism SLC31_HUMAN P508A Disease SLC31_HUMAN R181Q Disease SLC31_HUMAN R452W Disease SLC31_HUMAN T216M Disease SLC31_HUMAN T341A Disease SLC31_HUMAN Y461H Disease SLC31_HUMAN Y582H Disease SLIT2_HUMAN S1277F Polymorphism SLIT3_HUMAN E994G Polymorphism SLIT3_HUMAN R395Q Polymorphism SLUG_HUMAN D119E Disease SMAL1_HUMAN D424V Polymorphism SMAL1_HUMAN D649N Polymorphism SMAL1_HUMAN E377Q Polymorphism SMAL1_HUMAN K647Q Disease SMAL1_HUMAN K647T Disease SMAL1_HUMAN R764Q Disease SMAL1_HUMAN T705I Disease SMAL1_HUMAN T742M Polymorphism SMAL1_HUMAN Y206D Polymorphism SMBP2_HUMAN E334K Disease SMBP2_HUMAN G586C Disease SMBP2_HUMAN L364P Disease SMCA1_HUMAN R578Q Polymorphism SMRD3_HUMAN P170S Polymorphism SMYD2_HUMAN G165E Polymorphism SNAI_HUMAN V118A Polymorphism SN_HUMAN A1519P Polymorphism SN_HUMAN A974V Polymorphism SN_HUMAN H919P Polymorphism SN_HUMAN K239R Polymorphism SNPC2_HUMAN L118V Polymorphism SNTB2_HUMAN D424E Polymorphism SNX23_HUMAN M1027T Polymorphism SNX23_HUMAN N1119S Polymorphism SO1A2_HUMAN I355V Polymorphism SO1B1_HUMAN D241N Polymorphism SO1B1_HUMAN D462G Polymorphism SO1B1_HUMAN N130D Polymorphism SO1B1_HUMAN R152K Polymorphism SO2B1_HUMAN S486F Polymorphism SO5A1_HUMAN L33F Polymorphism SOAT2_HUMAN T254I Polymorphism SODC_HUMAN A4V Disease SODC_HUMAN A89V Disease SODC_HUMAN D101G Disease SODC_HUMAN D101N Disease SODC_HUMAN D90A Disease SODC_HUMAN D90V Disease SODC_HUMAN E100K Disease SODC_HUMAN E21K Disease SODC_HUMAN G41D Disease SODC_HUMAN G41S Disease SODC_HUMAN G72S Disease SODC_HUMAN G85R Disease SODC_HUMAN G93A Disease SODC_HUMAN H43R Disease SODC_HUMAN I112T Disease SODC_HUMAN I151T Disease SODC_HUMAN L106V Disease SODC_HUMAN L67R Disease SODC_HUMAN L84F Disease SODC_HUMAN L8V Disease SODC_HUMAN S105L Disease SODC_HUMAN V148I Disease SODC_HUMAN V7E Disease SODE_HUMAN A91T Polymorphism SODE_HUMAN T58A Polymorphism SODM_HUMAN A16V Polymorphism SODM_HUMAN E66V Polymorphism SODM_HUMAN I82T Polymorphism SODM_HUMAN R156W Polymorphism SOMA_HUMAN D37N Disease SOMA_HUMAN E100K Disease SOMA_HUMAN K67R Disease SOMA_HUMAN N73D Disease SOMA_HUMAN Q117L Disease SOMA_HUMAN R209H Disease SOMA_HUMAN S134R Disease SOMA_HUMAN T201A Disease SOMA_HUMAN T3A Disease SOMA_HUMAN T53I Disease SOMA_HUMAN V136I Polymorphism SPAST_HUMAN D584H Disease SPAST_HUMAN L534P Disease SPAST_HUMAN N386S Disease SPAST_HUMAN R503L Disease SPAST_HUMAN S407R Disease SPAST_HUMAN T614I Disease SPAT7_HUMAN V74M Polymorphism SPB11_HUMAN I181T Polymorphism SPB11_HUMAN M148T Polymorphism SPEB_HUMAN R105G Polymorphism SPEE_HUMAN L149V Polymorphism SPESP_HUMAN E191G Polymorphism SPG16_HUMAN Q361H Polymorphism SPG16_HUMAN T425K Polymorphism SPG3A_HUMAN H247P Disease SPG3A_HUMAN H258R Disease SPG7_HUMAN R688Q Polymorphism SPG7_HUMAN T503A Polymorphism SPHM_HUMAN A234G Disease SPHM_HUMAN A354P Disease SPHM_HUMAN A44T Disease SPHM_HUMAN D179N Disease SPHM_HUMAN E369K Disease SPHM_HUMAN F193L Disease SPHM_HUMAN G90R Disease SPHM_HUMAN L146P Disease SPHM_HUMAN P227R Disease SPHM_HUMAN Q380R Disease SPHM_HUMAN Q85R Disease SPHM_HUMAN R150Q Disease SPHM_HUMAN R245H Disease SPHM_HUMAN S298P Disease SPHM_HUMAN S364R Disease SPHM_HUMAN T139M Disease SPHM_HUMAN V131M Disease SPHM_HUMAN V226A Polymorphism SPHM_HUMAN V361I Polymorphism SPNXB_HUMAN V74L Polymorphism SPNXE_HUMAN V68L Polymorphism SPO11_HUMAN T36A Polymorphism SPON2_HUMAN E122A Polymorphism SPON2_HUMAN L242V Polymorphism SPON2_HUMAN P40L Polymorphism SPR1A_HUMAN I61V Polymorphism SPR1A_HUMAN Q42H Polymorphism SPRR3_HUMAN L149V Polymorphism SPTA1_HUMAN A970D Polymorphism SPTA1_HUMAN D791E Disease SPTA1_HUMAN G151D Disease SPTA1_HUMAN H469P Disease SPTA1_HUMAN I809V Polymorphism SPTA1_HUMAN K48R Disease SPTA1_HUMAN L1857V Polymorphism SPTA1_HUMAN R28C Disease SPTA1_HUMAN R28L Disease SPTA1_HUMAN R28S Disease SPTA1_HUMAN R701H Polymorphism SPTA1_HUMAN T853R Polymorphism SPTA1_HUMAN V31A Disease SPTA2_HUMAN T1300I Polymorphism SPTB1_HUMAN A2017G Disease SPTB1_HUMAN D1150N Polymorphism SPTB1_HUMAN H1373R Polymorphism SPTB1_HUMAN N438S Polymorphism SPTB1_HUMAN R1402Q Polymorphism SPTB1_HUMAN W2023R Disease SPYA_HUMAN F152I Disease SPYA_HUMAN G170R Disease SPYA_HUMAN G41V Disease SPYA_HUMAN I340M Polymorphism SPYA_HUMAN P11L Polymorphism SPYA_HUMAN R233C Disease SPYA_HUMAN R233H Disease SQRD_HUMAN I264T Polymorphism SQSTM_HUMAN A117V Polymorphism SRCH_HUMAN S43N Polymorphism SREC2_HUMAN E773D Polymorphism SREC2_HUMAN L774V Polymorphism SRPX_HUMAN P225S Polymorphism SRTD1_HUMAN T31A Polymorphism SRY_HUMAN S18N Disease SSDH_HUMAN H180Y Polymorphism SSDH_HUMAN P182L Polymorphism SSR4_HUMAN N83T Polymorphism SSR4_HUMAN S321F Polymorphism SSR4_HUMAN V284F Polymorphism SSR5_HUMAN P335L Polymorphism SSRA_HUMAN L28S Polymorphism ST17A_HUMAN E362K Polymorphism ST1A1_HUMAN M223V Polymorphism ST1A1_HUMAN N235T Polymorphism ST1A1_HUMAN R213H Polymorphism ST1A1_HUMAN R37Q Polymorphism ST1A2_HUMAN T235N Polymorphism ST1A2_HUMAN T7I Polymorphism ST1B1_HUMAN L145V Polymorphism ST1C1_HUMAN S255A Polymorphism ST1C1_HUMAN Y128H Polymorphism ST1E1_HUMAN D22Y Polymorphism ST2B1_HUMAN L51S Polymorphism ST2B1_HUMAN V240I Polymorphism STAB2_HUMAN H510P Polymorphism STAR7_HUMAN R65P Polymorphism STAT2_HUMAN M594I Polymorphism STAT2_HUMAN Q66H Polymorphism STAT3_HUMAN M143I Polymorphism STAT6_HUMAN M181R Polymorphism STF1_HUMAN R92Q Disease STK10_HUMAN K277E Disease STNB_HUMAN S307P Polymorphism STS_HUMAN C446Y Disease STS_HUMAN H444R Disease STS_HUMAN Q560P Disease STS_HUMAN W372S Disease STTP1_HUMAN V305M Polymorphism STX11_HUMAN E31Q Polymorphism STX2_HUMAN S42T Polymorphism STXB2_HUMAN V526I Polymorphism STXB3_HUMAN G433E Polymorphism STXB3_HUMAN G546C Polymorphism STYK1_HUMAN G204S Polymorphism SUCB1_HUMAN T199S Polymorphism SUFU_HUMAN A340S Polymorphism SUMF1_HUMAN A177P Disease SUMF1_HUMAN A279V Disease SUMF1_HUMAN A348P Disease SUMF1_HUMAN N259I Disease SUMF1_HUMAN P266L Disease SUMF1_HUMAN R345C Disease SUMF1_HUMAN S155P Disease SUMF1_HUMAN S63N Polymorphism SUMO4_HUMAN M55V Polymorphism SUOX_HUMAN A208D Disease SUOX_HUMAN I201L Disease SVIL_HUMAN A1235P Polymorphism SVIL_HUMAN A189V Polymorphism SYG_HUMAN E125G Disease SYG_HUMAN G294R Disease SYM_HUMAN A683D Polymorphism SYNE1_HUMAN A8323G Polymorphism SYR_HUMAN F397Y Polymorphism SYTL4_HUMAN V420I Polymorphism SYUA_HUMAN A53T Disease SYWM_HUMAN A267P Polymorphism T240L_HUMAN E251G Disease T2R13_HUMAN N259S Polymorphism T2R16_HUMAN R222H Polymorphism T2R38_HUMAN A262V Polymorphism T2R38_HUMAN A49P Polymorphism T2R38_HUMAN I296V Polymorphism TA2R4_HUMAN S171N Polymorphism TA2R4_HUMAN T74M Polymorphism TA2R4_HUMAN V96L Polymorphism TA2R5_HUMAN S26I Polymorphism TA2R7_HUMAN T263S Polymorphism TA2R9_HUMAN V187A Polymorphism TA2R_HUMAN C68S Polymorphism TA2R_HUMAN V217I Polymorphism TAAR6_HUMAN A228V Polymorphism TAAR6_HUMAN C291Y Polymorphism TAAR6_HUMAN G165S Polymorphism TAAR6_HUMAN I37T Polymorphism TAAR6_HUMAN V265I Polymorphism TAAR6_HUMAN V326I Polymorphism TAAR6_HUMAN Y173C Polymorphism TACC2_HUMAN A810T Polymorphism TACC2_HUMAN N180S Polymorphism TACC2_HUMAN V275A Polymorphism TACC2_HUMAN V796I Polymorphism TACD1_HUMAN T115M Polymorphism TACD2_HUMAN E216D Polymorphism TAF1C_HUMAN L575M Polymorphism TAF6_HUMAN C36S Polymorphism TAF7_HUMAN S178R Polymorphism TAF9_HUMAN T6M Polymorphism TAOK3_HUMAN S47N Polymorphism TAP1_HUMAN A370V Polymorphism TAP1_HUMAN D637G Polymorphism TAP1_HUMAN G419C Polymorphism TAP1_HUMAN I333V Polymorphism TAP1_HUMAN R648Q Polymorphism TAP1_HUMAN R659Q Disease TAP1_HUMAN V458L Polymorphism TAP1_HUMAN V518I Polymorphism TAP2_HUMAN A374T Polymorphism TAP2_HUMAN A513S Polymorphism TAP2_HUMAN A565T Polymorphism TAP2_HUMAN M577V Polymorphism TAP2_HUMAN T665A Polymorphism TAP2_HUMAN V379I Polymorphism TAP2_HUMAN V467I Polymorphism TAU_HUMAN E658V Disease TAU_HUMAN G588V Disease TAU_HUMAN H440Y Polymorphism TAU_HUMAN N595K Disease TAU_HUMAN S446P Polymorphism TAU_HUMAN S621N Disease TBCC_HUMAN P169S Polymorphism TBCD8_HUMAN M865V Polymorphism TBCD8_HUMAN R836G Polymorphism TBG2_HUMAN M413V Polymorphism TBL3_HUMAN P336R Polymorphism TBL3_HUMAN S343P Polymorphism TBX10_HUMAN K101T Polymorphism TBX22_HUMAN E187K Polymorphism TBX22_HUMAN M121V Disease TBX22_HUMAN P183L Disease TBX3_HUMAN L143P Disease TBX5_HUMAN I54T Disease TBX5_HUMAN Q49K Disease TBX5_HUMAN R237Q Disease TCF19_HUMAN P241L Polymorphism TCL1B_HUMAN G93R Polymorphism TCO2_HUMAN I219L Polymorphism TCO2_HUMAN P259R Polymorphism TCO2_HUMAN S376L Polymorphism TCP1L_HUMAN H145R Polymorphism TDG_HUMAN G199S Polymorphism TDP2_HUMAN P81S Polymorphism TECTA_HUMAN A932V Polymorphism TECTA_HUMAN C1057S Disease TECTA_HUMAN C1619S Disease TECTA_HUMAN G1824D Disease TECTA_HUMAN G371R Polymorphism TECTA_HUMAN L1820F Disease TECTA_HUMAN N1724S Polymorphism TEKT1_HUMAN V332I Polymorphism TENA_HUMAN A1781T Polymorphism TENA_HUMAN Q2008E Polymorphism TENR_HUMAN A128S Polymorphism TENR_HUMAN G293S Polymorphism TENX_HUMAN G2555S Polymorphism TENX_HUMAN P2363H Polymorphism TENX_HUMAN R511H Polymorphism TEP1_HUMAN C1468Y Polymorphism TEP1_HUMAN I2486M Polymorphism TEP1_HUMAN S1447T Polymorphism TEP1_HUMAN V2214I Polymorphism TETN_HUMAN A55S Polymorphism TETN_HUMAN S106G Polymorphism TETN_HUMAN V58M Polymorphism TF2H1_HUMAN R234W Polymorphism TF2H2_HUMAN I151M Polymorphism TF2H2_HUMAN V236L Polymorphism TF2H4_HUMAN R337Q Polymorphism TF2LX_HUMAN V197I Polymorphism TF3A_HUMAN V303L Polymorphism TFF1_HUMAN T32I Disease TF_HUMAN T36A Polymorphism TFPI2_HUMAN V102A Polymorphism TGFB1_HUMAN H222D Disease TGFB1_HUMAN L10P Polymorphism TGFB1_HUMAN R218H Disease TGFB1_HUMAN R25P Polymorphism TGFB1_HUMAN T263I Polymorphism TGFB1_HUMAN Y81H Disease TGFB2_HUMAN R91H Polymorphism TGFB2_HUMAN V207L Polymorphism TGFB4_HUMAN S92L Polymorphism TGFR1_HUMAN M318R Disease TGFR1_HUMAN T200I Disease TGFR2_HUMAN E526Q Disease TGFR2_HUMAN L452M Disease TGFR2_HUMAN M36V Polymorphism TGFR2_HUMAN N435S Disease TGFR2_HUMAN R537C Disease TGFR2_HUMAN T315M Disease TGFR2_HUMAN V191I Polymorphism TGFR2_HUMAN V387M Disease TGFR2_HUMAN Y336N Disease TGIF_HUMAN T280A Disease TGM1_HUMAN G218S Disease TGM1_HUMAN N289T Disease TGM3L_HUMAN M58V Polymorphism TGM5_HUMAN A351G Polymorphism THAS_HUMAN A429T Polymorphism THAS_HUMAN D160E Polymorphism THAS_HUMAN E388K Polymorphism THAS_HUMAN E449K Polymorphism THAS_HUMAN I331T Polymorphism THAS_HUMAN K257E Polymorphism THAS_HUMAN L162I Polymorphism THAS_HUMAN L356V Polymorphism THAS_HUMAN N245S Polymorphism THAS_HUMAN Q316K Polymorphism THAS_HUMAN Q416E Polymorphism THAS_HUMAN R260G Polymorphism THAS_HUMAN R465Q Polymorphism THAS_HUMAN R501Q Polymorphism THAS_HUMAN R60H Polymorphism THAS_HUMAN T450N Polymorphism THAS_HUMAN V124I Polymorphism THB1_HUMAN A234T Disease THB1_HUMAN A317T Disease THB1_HUMAN G332R Disease THB1_HUMAN G345R Disease THB1_HUMAN G345S Disease THB1_HUMAN G345V Disease THB1_HUMAN G347E Disease THB1_HUMAN M442V Disease THB1_HUMAN Q340H Disease THB1_HUMAN R316H Disease THB1_HUMAN R320C Disease THB1_HUMAN R438H Disease THB1_HUMAN T337I Polymorphism THB1_HUMAN V348E Disease THBG_HUMAN I116N Disease THBG_HUMAN L303F Polymorphism THBG_HUMAN P383L Disease THBG_HUMAN S43T Disease THIC_HUMAN K211R Polymorphism THIK_HUMAN E172D Polymorphism THIL_HUMAN G152A Disease THIL_HUMAN G183R Disease THIL_HUMAN N158D Disease THIL_HUMAN N93S Disease THRB_HUMAN P386T Polymorphism THRB_HUMAN T165M Polymorphism THYG_HUMAN D1838N Polymorphism THYG_HUMAN M1028V Polymorphism THYG_HUMAN R2530Q Polymorphism THYG_HUMAN S734A Polymorphism THYG_HUMAN W2501R Polymorphism TIE2_HUMAN R849W Disease TIE2_HUMAN Y897S Disease TIM16_HUMAN Q114K Polymorphism TIM_HUMAN Q831R Polymorphism TIP30_HUMAN L144I Disease TIP30_HUMAN R197S Polymorphism TLN1_HUMAN S1227L Polymorphism TLN2_HUMAN A1148S Polymorphism TLN2_HUMAN F2266L Polymorphism TLR1_HUMAN H118Y Polymorphism TLR3_HUMAN L412F Polymorphism TLR4_HUMAN C246S Polymorphism TLR4_HUMAN D299G Polymorphism TLR4_HUMAN E474K Polymorphism TLR4_HUMAN F342Y Polymorphism TLR4_HUMAN F443L Polymorphism TLR4_HUMAN K694R Polymorphism TLR4_HUMAN N329S Polymorphism TLR4_HUMAN Q188R Polymorphism TLR4_HUMAN Q510H Polymorphism TLR4_HUMAN R763H Polymorphism TLR4_HUMAN S400N Polymorphism TLR4_HUMAN T175A Polymorphism TLR4_HUMAN T399I Polymorphism TLR5_HUMAN F616L Polymorphism TLR5_HUMAN N592S Polymorphism TM16B_HUMAN S501A Polymorphism TM16B_HUMAN V108A Polymorphism TM16E_HUMAN C356G Disease TM16E_HUMAN C356R Disease TM50A_HUMAN F141L Polymorphism TMBI1_HUMAN L21P Polymorphism TMBI4_HUMAN T88I Polymorphism TMC1_HUMAN M654V Disease TMC6_HUMAN W125R Polymorphism TMC8_HUMAN N306I Polymorphism TMED5_HUMAN T175I Polymorphism TMEDA_HUMAN S64Y Polymorphism TMM25_HUMAN Q342R Polymorphism TMPS2_HUMAN K449N Polymorphism TMPS3_HUMAN A426T Polymorphism TMPS3_HUMAN D173N Polymorphism TMPS3_HUMAN G111S Polymorphism TMPS3_HUMAN I253V Polymorphism TMPS9_HUMAN E938K Polymorphism TMPS9_HUMAN S793N Polymorphism TNAP2_HUMAN E282Q Polymorphism TNAP2_HUMAN T580M Polymorphism TNAP3_HUMAN F127C Polymorphism TNFA_HUMAN P84L Polymorphism TNFB_HUMAN C13R Polymorphism TNFB_HUMAN H51P Polymorphism TNFB_HUMAN T125P Polymorphism TNFB_HUMAN T60N Polymorphism TNFL5_HUMAN K143T Disease TNNI3_HUMAN K177E Disease TNNI3_HUMAN P81S Disease TNNT2_HUMAN K262R Polymorphism TNNT2_HUMAN R101Q Disease TNNT2_HUMAN R138K Polymorphism TNNT2_HUMAN S248T Polymorphism TNPO1_HUMAN D26E Polymorphism TNR11_HUMAN A192V Polymorphism TNR14_HUMAN A117T Polymorphism TNR17_HUMAN I65V Polymorphism TNR17_HUMAN S81N Polymorphism TNR1A_HUMAN R121Q Disease TNR1B_HUMAN A236T Polymorphism TNR1B_HUMAN M196R Polymorphism TNR1B_HUMAN V187M Polymorphism TNR5_HUMAN S124L Polymorphism TNR6_HUMAN A25T Disease TNR6_HUMAN L180F Disease TNR6_HUMAN L278F Disease TNR6_HUMAN P183L Disease TNR6_HUMAN T122I Polymorphism TNR6_HUMAN T198I Disease TNR6_HUMAN T241K Disease TNR6_HUMAN T28A Disease TNR8_HUMAN S402G Polymorphism TNR9_HUMAN A56T Polymorphism TOPK_HUMAN N107S Polymorphism TOR1A_HUMAN D216H Polymorphism TP53B_HUMAN D353E Polymorphism TP53B_HUMAN G412S Polymorphism TP53B_HUMAN I1174V Polymorphism TP53B_HUMAN K1136Q Polymorphism TPIS_HUMAN C41Y Disease TPIS_HUMAN E104D Disease TPIS_HUMAN F240L Disease TPIS_HUMAN I170V Disease TPMT_HUMAN R215H Polymorphism TPO_HUMAN G116E Polymorphism TPP1_HUMAN E343K Disease TPP1_HUMAN G77R Disease TPP1_HUMAN H175R Polymorphism TPP1_HUMAN K428N Disease TPP1_HUMAN Q100R Polymorphism TPP1_HUMAN R127Q Disease TPP1_HUMAN V277M Disease TPPC1_HUMAN R129G Disease TR10A_HUMAN R209T Polymorphism TR10B_HUMAN P32L Polymorphism TR11B_HUMAN K3N Polymorphism TRAF5_HUMAN N186H Polymorphism TRBM_HUMAN G79A Polymorphism TRBM_HUMAN P495S Polymorphism TRFE_HUMAN D296G Polymorphism TRFE_HUMAN G142S Polymorphism TRFE_HUMAN G277S Polymorphism TRFE_HUMAN H319R Polymorphism TRFE_HUMAN K646E Polymorphism TRFE_HUMAN P589S Polymorphism TRFL_HUMAN A30T Polymorphism TRFL_HUMAN E580D Polymorphism TRFL_HUMAN K48R Polymorphism TRI15_HUMAN I29V Polymorphism TRI16_HUMAN E121D Polymorphism TRI18_HUMAN L626P Disease TRI31_HUMAN E421K Polymorphism TRI31_HUMAN V232I Polymorphism TRI34_HUMAN D282H Polymorphism TRI34_HUMAN T276S Polymorphism TRI36_HUMAN K428R Polymorphism TRI38_HUMAN G421R Polymorphism TRI50_HUMAN L8P Polymorphism TRI63_HUMAN K237E Polymorphism TRIB3_HUMAN Q84R Polymorphism TRIM5_HUMAN H43Y Polymorphism TRIM5_HUMAN R136Q Polymorphism TRIM7_HUMAN P73S Polymorphism TRIM7_HUMAN Q95E Polymorphism TRIM9_HUMAN L653F Polymorphism TRIP6_HUMAN L296F Polymorphism TRPA1_HUMAN C3R Polymorphism TRPA1_HUMAN E179K Polymorphism TRPA1_HUMAN H1018R Polymorphism TRPA1_HUMAN N186K Polymorphism TRPM2_HUMAN D543E Polymorphism TRPS1_HUMAN T901P Disease TRPV5_HUMAN A563T Polymorphism TRPV6_HUMAN C157R Polymorphism TRPV6_HUMAN M378V Polymorphism TRPV6_HUMAN M681T Polymorphism TRY1_HUMAN A16V Disease TRY1_HUMAN D22G Disease TRY1_HUMAN K23R Disease TRY1_HUMAN L104P Disease TRY1_HUMAN N29I Disease TRY1_HUMAN N29T Disease TRY1_HUMAN R122C Disease TRY1_HUMAN R122H Disease TRYA1_HUMAN K221Q Polymorphism TRYB1_HUMAN A18V Polymorphism TRYB1_HUMAN A85T Polymorphism TRYB1_HUMAN D162N Polymorphism TRYB1_HUMAN G23V Polymorphism TRYB1_HUMAN N132K Polymorphism TRYB1_HUMAN P170S Polymorphism TRYB1_HUMAN R216Q Polymorphism TRYB1_HUMAN T141A Polymorphism TRYB1_HUMAN T215S Polymorphism TRYD_HUMAN V76M Polymorphism TS1R2_HUMAN A574T Polymorphism TS1R3_HUMAN C757R Polymorphism TSC1_HUMAN G1108S Polymorphism TSC1_HUMAN M322T Polymorphism TSC1_HUMAN Q654E Disease TSC1_HUMAN T899S Disease TSC2_HUMAN D1636N Polymorphism TSC2_HUMAN E1783Q Disease TSC2_HUMAN F320L Disease TSC2_HUMAN G1787S Polymorphism TSC2_HUMAN H137R Disease TSC2_HUMAN L1594M Disease TSC2_HUMAN L826M Disease TSC2_HUMAN M286T Polymorphism TSC2_HUMAN M449I Disease TSC2_HUMAN N1651S Disease TSC2_HUMAN T94P Polymorphism TSG6_HUMAN Q144R Polymorphism TSHR_HUMAN A623I Disease TSHR_HUMAN A623V Disease TSHR_HUMAN A647V Disease TSHR_HUMAN C41S Disease TSHR_HUMAN D219E Disease TSHR_HUMAN D410N Disease TSHR_HUMAN D727E Polymorphism TSHR_HUMAN F631L Disease TSHR_HUMAN I486F Disease TSHR_HUMAN I568T Disease TSHR_HUMAN I630L Disease TSHR_HUMAN K183R Disease TSHR_HUMAN L629F Disease TSHR_HUMAN P162A Disease TSHR_HUMAN P52T Polymorphism TSHR_HUMAN Q720E Polymorphism TSHR_HUMAN R109Q Disease TSHR_HUMAN R450H Disease TSHR_HUMAN R528H Polymorphism TSHR_HUMAN S281I Disease TSHR_HUMAN S281N Disease TSHR_HUMAN S281T Disease TSHR_HUMAN T632A Disease TSHR_HUMAN V597L Disease TSN6_HUMAN A108T Polymorphism TSN8_HUMAN S213A Polymorphism TSP4_HUMAN A387P Polymorphism TSP4_HUMAN A420V Polymorphism TSP4_HUMAN V646I Polymorphism TSPY1_HUMAN I216F Polymorphism TSPY1_HUMAN P195R Polymorphism TSYL1_HUMAN A74P Polymorphism TTC3_HUMAN F1117L Polymorphism TTC3_HUMAN M840T Polymorphism TTC7A_HUMAN V538L Polymorphism TTHY_HUMAN A65T Disease TTHY_HUMAN E109Q Disease TTHY_HUMAN G26S Disease TTHY_HUMAN I104S Disease TTHY_HUMAN I127V Disease TTHY_HUMAN P122R Polymorphism TTHY_HUMAN V50L Disease TTLL3_HUMAN M290R Polymorphism TTPA_HUMAN A120T Disease TTPA_HUMAN E141K Disease TTPA_HUMAN H101Q Disease TTP_HUMAN P37S Polymorphism TTRAP_HUMAN R268Q Polymorphism TULP1_HUMAN A496T Disease TULP1_HUMAN I459K Disease TULP1_HUMAN K489R Disease TULP1_HUMAN R378H Disease TXD10_HUMAN P61S Polymorphism TXD11_HUMAN V783L Polymorphism TXLNG_HUMAN I246V Polymorphism TXND2_HUMAN A461T Polymorphism TXND2_HUMAN K341E Polymorphism TXNL2_HUMAN P123S Polymorphism TXNL2_HUMAN Q21H Polymorphism TY3H_HUMAN V112M Polymorphism TY3H_HUMAN V499M Polymorphism TYK2_HUMAN G363S Polymorphism TYK2_HUMAN I684S Polymorphism TYPH_HUMAN E289A Disease TYPH_HUMAN R44Q Disease TYPH_HUMAN S471L Polymorphism TYRO_HUMAN A201S Disease TYRO_HUMAN A355P Disease TYRO_HUMAN A416S Disease TYRO_HUMAN C289G Disease TYRO_HUMAN D42G Disease TYRO_HUMAN D448N Disease TYRO_HUMAN E294G Disease TYRO_HUMAN E398A Disease TYRO_HUMAN E409D Disease TYRO_HUMAN F176I Disease TYRO_HUMAN G253R Disease TYRO_HUMAN H19Q Disease TYRO_HUMAN H256Y Disease TYRO_HUMAN H404N Disease TYRO_HUMAN K243T Disease TYRO_HUMAN L216M Disease TYRO_HUMAN M179L Disease TYRO_HUMAN M370T Disease TYRO_HUMAN N382K Disease TYRO_HUMAN N435D Disease TYRO_HUMAN P152S Disease TYRO_HUMAN Q68H Disease TYRO_HUMAN R217Q Disease TYRO_HUMAN R217S Disease TYRO_HUMAN R217W Disease TYRO_HUMAN R308T Polymorphism TYRO_HUMAN R402L Disease TYRO_HUMAN R402Q Polymorphism TYRO_HUMAN S192Y Polymorphism TYRO_HUMAN S329P Disease TYRO_HUMAN S339G Disease TYRO_HUMAN S361R Disease TYRO_HUMAN S395N Disease TYRO_HUMAN S395R Disease TYRO_HUMAN S424F Disease TYRO_HUMAN S44G Disease TYRO_HUMAN S79L Disease TYRO_HUMAN T155S Disease TYRO_HUMAN T325A Disease U2AFL_HUMAN S155G Polymorphism U5S1_HUMAN G773V Polymorphism UAP1_HUMAN P418H Polymorphism UB2E3_HUMAN W201R Polymorphism UBE3A_HUMAN G290V Polymorphism UBP16_HUMAN Q141H Polymorphism UBP29_HUMAN E586K Polymorphism UBP40_HUMAN R1111C Polymorphism UBP44_HUMAN A91T Polymorphism UBP8_HUMAN A827G Polymorphism UBQL3_HUMAN R624Q Polymorphism UCHL5_HUMAN F197I Polymorphism UCP1_HUMAN A64T Polymorphism UCP1_HUMAN M229L Polymorphism UCP2_HUMAN A268G Polymorphism UCP2_HUMAN A55V Polymorphism UCP2_HUMAN R154Q Polymorphism UCP2_HUMAN R76Q Polymorphism UCP3_HUMAN V102I Polymorphism UCRP_HUMAN S82N Polymorphism UD110_HUMAN M59I Polymorphism UD110_HUMAN T202I Polymorphism UD11_HUMAN A292V Disease UD11_HUMAN A368T Disease UD11_HUMAN G71R Disease UD11_HUMAN K428E Disease UD11_HUMAN L175Q Disease UD11_HUMAN P229Q Disease UD11_HUMAN Q331R Disease UD11_HUMAN R367G Disease UD16_HUMAN R184S Polymorphism UD16_HUMAN T181A Polymorphism UD17_HUMAN N129K Polymorphism UD17_HUMAN R131K Polymorphism UD17_HUMAN W208R Polymorphism UD18_HUMAN A173G Polymorphism UD18_HUMAN C277Y Polymorphism UD18_HUMAN G154A Polymorphism UD18_HUMAN K132R Polymorphism UD18_HUMAN M212L Polymorphism UDB15_HUMAN D85Y Polymorphism UDB15_HUMAN T523K Polymorphism UDB4_HUMAN D458E Polymorphism UDB4_HUMAN F109L Polymorphism UDB4_HUMAN F396L Polymorphism UHRF1_HUMAN E379K Polymorphism ULA4_HUMAN H257R Polymorphism ULA4_HUMAN R17C Polymorphism UN93A_HUMAN M403T Polymorphism UN93A_HUMAN V292I Polymorphism UN93A_HUMAN V409I Polymorphism UNC5C_HUMAN T721M Polymorphism UNG_HUMAN F251S Disease UPK1A_HUMAN M257T Polymorphism UPK3A_HUMAN A154P Polymorphism UQCR1_HUMAN S301N Polymorphism UROK_HUMAN P141L Polymorphism URP1_HUMAN R526K Polymorphism USH1C_HUMAN D519E Polymorphism USP9Y_HUMAN T1060A Polymorphism UT14C_HUMAN G85V Polymorphism UT14C_HUMAN T101A Polymorphism UT1_HUMAN E44K Polymorphism UTX_HUMAN T726K Polymorphism V2R_HUMAN A147V Polymorphism V2R_HUMAN A163P Disease V2R_HUMAN A294P Disease V2R_HUMAN A42V Polymorphism V2R_HUMAN A61V Polymorphism V2R_HUMAN D191G Disease V2R_HUMAN D85N Disease V2R_HUMAN G185C Disease V2R_HUMAN G201D Disease V2R_HUMAN I209F Disease V2R_HUMAN L83P Disease V2R_HUMAN N321D Disease V2R_HUMAN P173S Disease V2R_HUMAN P95L Disease V2R_HUMAN R139S Polymorphism V2R_HUMAN S126F Disease V2R_HUMAN S318T Polymorphism V2R_HUMAN T7S Polymorphism V2R_HUMAN V206D Disease V2R_HUMAN V277A Disease V2R_HUMAN V88M Disease VATB1_HUMAN E161K Polymorphism VATB1_HUMAN T30I Polymorphism VCAM1_HUMAN G413A Polymorphism VCAM1_HUMAN S318F Polymorphism VCAM1_HUMAN T384A Polymorphism VDAC2_HUMAN A39V Polymorphism VGFR2_HUMAN V297I Polymorphism VGFR3_HUMAN H890Q Polymorphism VGFR3_HUMAN P1114L Disease VGFR3_HUMAN P1137S Disease VGFR3_HUMAN P954S Disease VGFR3_HUMAN R1041P Disease VGFR3_HUMAN R1146H Polymorphism VGFR3_HUMAN T494A Polymorphism VHL_HUMAN F76I Disease VHL_HUMAN G106D Disease VHL_HUMAN G114S Disease VHL_HUMAN R161Q Disease VHL_HUMAN S111N Disease VIPR2_HUMAN R412H Polymorphism VKOR1_HUMAN R58G Disease VLDLR_HUMAN E379K Polymorphism VLDLR_HUMAN V59I Polymorphism VMAT1_HUMAN I136T Polymorphism VMAT1_HUMAN S98T Polymorphism VMAT1_HUMAN T4P Polymorphism VMD2_HUMAN A146K Disease VMD2_HUMAN A195V Disease VMD2_HUMAN A243V Disease VMD2_HUMAN D104E Disease VMD2_HUMAN E119Q Disease VMD2_HUMAN E300D Disease VMD2_HUMAN F17C Disease VMD2_HUMAN F305S Disease VMD2_HUMAN G135S Disease VMD2_HUMAN I73N Disease VMD2_HUMAN K30R Disease VMD2_HUMAN L67V Polymorphism VMD2_HUMAN Q58L Disease VMD2_HUMAN R13H Disease VMD2_HUMAN R218H Disease VMD2_HUMAN R218Q Disease VMD2_HUMAN R47H Disease VMD2_HUMAN S209N Disease VMD2_HUMAN T307I Disease VMD2_HUMAN V235M Disease VMD2_HUMAN V9A Disease VMD2_HUMAN W24C Disease VMD2_HUMAN Y227C Disease VN1R1_HUMAN A269D Polymorphism VN1R1_HUMAN I139T Polymorphism VN1R1_HUMAN S241F Polymorphism VN1R4_HUMAN A52V Polymorphism VN1R4_HUMAN D220N Polymorphism VN1R4_HUMAN R58L Polymorphism VNN1_HUMAN A325E Polymorphism VNN1_HUMAN D146N Polymorphism VNN1_HUMAN I373T Polymorphism VNN1_HUMAN T26I Polymorphism VNN1_HUMAN V136L Polymorphism VNN2_HUMAN M404L Polymorphism VP33B_HUMAN S514G Polymorphism VPP3_HUMAN G405R Disease VPP4_HUMAN M580T Disease VPS4B_HUMAN I58M Polymorphism VRK2_HUMAN V167I Polymorphism VSX1_HUMAN D144E Disease VSX1_HUMAN G160D Disease VSX1_HUMAN L159M Disease VTDB_HUMAN D432E Polymorphism VTDB_HUMAN K436T Polymorphism VTDB_HUMAN R445H Polymorphism VWF_HUMAN A1381T Polymorphism VWF_HUMAN A1461V Disease VWF_HUMAN G550R Disease VWF_HUMAN H1268D Disease VWF_HUMAN L1460V Disease VWF_HUMAN N857D Polymorphism VWF_HUMAN P1648S Disease VWF_HUMAN P2063S Disease VWF_HUMAN R1341Q Disease VWF_HUMAN R1399H Polymorphism VWF_HUMAN R1597Q Disease VWF_HUMAN R852Q Polymorphism VWF_HUMAN S1613P Disease VWF_HUMAN T789A Polymorphism VWF_HUMAN V1318L Disease VWF_HUMAN V1565L Polymorphism VWF_HUMAN W1313C Disease WASP_HUMAN G88D Disease WDR12_HUMAN E286G Polymorphism WDR12_HUMAN M72V Polymorphism WDR12_HUMAN Y89C Polymorphism WDR1_HUMAN I184V Polymorphism WDR23_HUMAN R207H Polymorphism WFS1_HUMAN A684V Polymorphism WFS1_HUMAN G780R Disease WHRN_HUMAN V783A Polymorphism WISP3_HUMAN C78R Disease WN10A_HUMAN P302T Polymorphism WNT2_HUMAN R299W Polymorphism WRN_HUMAN E343K Polymorphism WRN_HUMAN F1074L Polymorphism WRN_HUMAN I912S Polymorphism WRN_HUMAN K1269E Polymorphism WRN_HUMAN N240K Polymorphism WRN_HUMAN N533S Polymorphism WRN_HUMAN Q724L Polymorphism WRN_HUMAN S612C Polymorphism WRN_HUMAN T172P Polymorphism WRN_HUMAN T324A Polymorphism WRN_HUMAN V114I Polymorphism WT1_HUMAN D396G Disease WT1_HUMAN D396N Disease WT1_HUMAN M342R Disease WT1_HUMAN P181S Disease WT1_HUMAN R312Q Disease WT1_HUMAN R366C Disease WT1_HUMAN R366H Disease WT1_HUMAN R394Q Disease WT1_HUMAN R394W Disease WWOX_HUMAN A179T Polymorphism WWOX_HUMAN L272F Polymorphism WWOX_HUMAN L291P Disease WWOX_HUMAN P282A Polymorphism WWOX_HUMAN R314H Disease WWOX_HUMAN T111S Disease XAB2_HUMAN A702T Polymorphism XAB2_HUMAN R454Q Polymorphism XAB2_HUMAN V126I Polymorphism XDH_HUMAN D583A Polymorphism XDH_HUMAN E132K Polymorphism XDH_HUMAN G171R Polymorphism XDH_HUMAN I645V Polymorphism XDH_HUMAN I702V Polymorphism XDH_HUMAN K616N Polymorphism XDH_HUMAN N1108T Polymorphism XDH_HUMAN P554S Polymorphism XDH_HUMAN R606Q Polymorphism XDH_HUMAN T234M Polymorphism XDH_HUMAN T622I Polymorphism XDH_HUMAN V1090L Polymorphism XLRS1_HUMAN D158N Polymorphism XLRS1_HUMAN E146D Disease XLRS1_HUMAN E146K Disease XLRS1_HUMAN E72K Disease XLRS1_HUMAN G70A Disease XLRS1_HUMAN G70S Disease XLRS1_HUMAN H207Q Disease XLRS1_HUMAN L216P Disease XLRS1_HUMAN P192R Disease XLRS1_HUMAN P192S Disease XLRS1_HUMAN P193S Disease XLRS1_HUMAN R102Q Disease XLRS1_HUMAN R141G Disease XLRS1_HUMAN R209H Disease XLRS1_HUMAN Y155C Disease XLRS1_HUMAN Y65C Disease XPA_HUMAN L252V Polymorphism XPA_HUMAN R130K Disease XPA_HUMAN R228Q Polymorphism XPC_HUMAN M512I Polymorphism XPC_HUMAN Q631E Polymorphism XPC_HUMAN V498A Polymorphism XRCC1_HUMAN R194W Polymorphism XRCC1_HUMAN R399Q Polymorphism XRCC3_HUMAN R94H Polymorphism XRCC3_HUMAN T241M Polymorphism XRCC4_HUMAN E142Q Polymorphism XRCC4_HUMAN Q240P Polymorphism XYLT2_HUMAN T305R Polymorphism Y0555_HUMAN V106I Polymorphism ZAP70_HUMAN S518R Disease ZC3H3_HUMAN E151D Polymorphism ZC3H3_HUMAN S399G Polymorphism ZCC2_HUMAN I851T Polymorphism ZCPW1_HUMAN T153A Polymorphism ZDH13_HUMAN R99K Polymorphism ZFY16_HUMAN T192I Polymorphism ZIC2_HUMAN Q36P Disease ZIC3_HUMAN T323M Disease ZIM2_HUMAN A110T Polymorphism ZMY10_HUMAN R407Q Disease ZN132_HUMAN P135L Polymorphism ZN141_HUMAN K124E Polymorphism ZN141_HUMAN K358N Polymorphism ZN141_HUMAN R349K Polymorphism ZN192_HUMAN P163L Polymorphism ZN202_HUMAN A154V Polymorphism ZN202_HUMAN G533A Polymorphism ZN214_HUMAN I185R Polymorphism ZN214_HUMAN L128H Polymorphism ZN215_HUMAN M376V Polymorphism ZN224_HUMAN K640E Polymorphism ZN234_HUMAN V16I Polymorphism ZN238_HUMAN E132G Polymorphism ZN266_HUMAN P170L Polymorphism ZN286_HUMAN Y90H Polymorphism ZN291_HUMAN P1088T Polymorphism ZN297_HUMAN T310A Polymorphism ZN300_HUMAN Q336H Polymorphism ZN323_HUMAN T50S Polymorphism ZN350_HUMAN P66L Polymorphism ZN510_HUMAN C89R Polymorphism ZN510_HUMAN Q43R Polymorphism ZN562_HUMAN F178L Polymorphism ZN562_HUMAN K205E Polymorphism ZN565_HUMAN I188T Polymorphism ZN571_HUMAN E252D Polymorphism ZN571_HUMAN H189Q Polymorphism ZN638_HUMAN V1726M Polymorphism ZNF24_HUMAN S220N Polymorphism ZNF41_HUMAN D357E Polymorphism ZNF41_HUMAN I167R Polymorphism ZNF41_HUMAN P153L Disease ZNF42_HUMAN I331V Polymorphism ZNF45_HUMAN A187T Polymorphism ZNF45_HUMAN P303R Polymorphism ZNF45_HUMAN R255K Polymorphism ZNF45_HUMAN R504K Polymorphism ZNF45_HUMAN T299A Polymorphism ZNF74_HUMAN E117K Polymorphism ZNF80_HUMAN D253A Polymorphism ZNF81_HUMAN A3V Polymorphism ZNF81_HUMAN I499V Polymorphism ZNF81_HUMAN N157S Polymorphism ZNF81_HUMAN S179N Disease ZNF81_HUMAN S185L Polymorphism ZPI_HUMAN T161S Polymorphism