********************************************************************************************** ** ** ** SNPs&GO ** ** Predicting disease associated variation using GO terms ** ** ** ********************************************************************************************** WARNING: Incorrect mutation K284T WARNING: Incorrect mutation A720V WARNING: Incorrect mutation P717R WARNING: Incorrect mutation P717H WARNING: Incorrect mutation P717S WARNING: Incorrect mutation A713V WARNING: Incorrect mutation E711A WARNING: Incorrect mutation E711Q Sequence File: fileseq.seq Mutation Prediction RI Probability Method S2A Neutral 10 0.013 PhD-SNP: F[S]=40% F[A]=51% Nali=123 S2A Unclassified NA NA PANTHER: F[S]=NA F[A]=NA S2A Neutral 10 0.008 SNPs&GO V7A Neutral 9 0.043 PhD-SNP: F[V]=19% F[A]=23% Nali=123 V7A Unclassified NA NA PANTHER: F[V]=NA F[A]=NA V7A Neutral 10 0.022 SNPs&GO V7I Neutral 9 0.035 PhD-SNP: F[V]=19% F[I]=10% Nali=123 V7I Unclassified NA NA PANTHER: F[V]=NA F[I]=NA V7I Neutral 9 0.030 SNPs&GO Q9H Neutral 2 0.376 PhD-SNP: F[Q]=62% F[H]=1% Nali=124 Q9H Unclassified NA NA PANTHER: F[Q]=NA F[H]=NA Q9H Neutral 6 0.181 SNPs&GO F21L Neutral 7 0.129 PhD-SNP: F[F]=11% F[L]=69% Nali=126 F21L Unclassified NA NA PANTHER: F[F]=NA F[L]=NA F21L Neutral 9 0.037 SNPs&GO Y22C Disease 8 0.878 PhD-SNP: F[Y]=98% F[C]=0% Nali=127 Y22C Unclassified NA NA PANTHER: F[Y]=NA F[C]=NA Y22C Disease 5 0.764 SNPs&GO N25S Neutral 9 0.061 PhD-SNP: F[N]=19% F[S]=30% Nali=123 N25S Unclassified NA NA PANTHER: F[N]=NA F[S]=NA N25S Neutral 9 0.028 SNPs&GO R31Q Disease 7 0.839 PhD-SNP: F[R]=99% F[Q]=0% Nali=127 R31Q Unclassified NA NA PANTHER: F[R]=NA F[Q]=NA R31Q Disease 4 0.697 SNPs&GO H32Q Neutral 7 0.144 PhD-SNP: F[H]=49% F[Q]=45% Nali=127 H32Q Unclassified NA NA PANTHER: F[H]=NA F[Q]=NA H32Q Neutral 9 0.037 SNPs&GO I38L Neutral 4 0.317 PhD-SNP: F[I]=82% F[L]=16% Nali=127 I38L Unclassified NA NA PANTHER: F[I]=NA F[L]=NA I38L Neutral 7 0.143 SNPs&GO Q41E Disease 1 0.541 PhD-SNP: F[Q]=78% F[E]=0% Nali=127 Q41E Unclassified NA NA PANTHER: F[Q]=NA F[E]=NA Q41E Neutral 3 0.342 SNPs&GO D42G Disease 0 0.522 PhD-SNP: F[D]=46% F[G]=0% Nali=127 D42G Unclassified NA NA PANTHER: F[D]=NA F[G]=NA D42G Neutral 5 0.229 SNPs&GO W43R Disease 6 0.789 PhD-SNP: F[W]=95% F[R]=0% Nali=127 W43R Unclassified NA NA PANTHER: F[W]=NA F[R]=NA W43R Disease 0 0.524 SNPs&GO E44G Neutral 4 0.286 PhD-SNP: F[E]=35% F[G]=2% Nali=128 E44G Unclassified NA NA PANTHER: F[E]=NA F[G]=NA E44G Neutral 7 0.138 SNPs&GO A46V Neutral 6 0.186 PhD-SNP: F[A]=52% F[V]=14% Nali=129 A46V Unclassified NA NA PANTHER: F[A]=NA F[V]=NA A46V Neutral 8 0.095 SNPs&GO S47A Neutral 9 0.041 PhD-SNP: F[S]=16% F[A]=43% Nali=127 S47A Unclassified NA NA PANTHER: F[S]=NA F[A]=NA S47A Neutral 10 0.019 SNPs&GO N49S Neutral 8 0.115 PhD-SNP: F[N]=18% F[S]=4% Nali=129 N49S Unclassified NA NA PANTHER: F[N]=NA F[S]=NA N49S Neutral 8 0.077 SNPs&GO T51A Neutral 8 0.096 PhD-SNP: F[T]=9% F[A]=12% Nali=128 T51A Unclassified NA NA PANTHER: F[T]=NA F[A]=NA T51A Neutral 9 0.062 SNPs&GO M52T Neutral 5 0.242 PhD-SNP: F[M]=15% F[T]=0% Nali=128 M52T Unclassified NA NA PANTHER: F[M]=NA F[T]=NA M52T Neutral 7 0.151 SNPs&GO A53T Disease 2 0.613 PhD-SNP: F[A]=81% F[T]=2% Nali=127 A53T Unclassified NA NA PANTHER: F[A]=NA F[T]=NA A53T Neutral 4 0.279 SNPs&GO A53V Neutral 1 0.473 PhD-SNP: F[A]=81% F[V]=4% Nali=127 A53V Unclassified NA NA PANTHER: F[A]=NA F[V]=NA A53V Neutral 5 0.230 SNPs&GO T54A Neutral 7 0.149 PhD-SNP: F[T]=48% F[A]=10% Nali=127 T54A Unclassified NA NA PANTHER: F[T]=NA F[A]=NA T54A Neutral 9 0.070 SNPs&GO T54M Neutral 5 0.259 PhD-SNP: F[T]=48% F[M]=5% Nali=127 T54M Unclassified NA NA PANTHER: F[T]=NA F[M]=NA T54M Neutral 8 0.118 SNPs&GO I55S Neutral 4 0.295 PhD-SNP: F[I]=17% F[S]=1% Nali=126 I55S Unclassified NA NA PANTHER: F[I]=NA F[S]=NA I55S Neutral 8 0.113 SNPs&GO L56F Neutral 4 0.277 PhD-SNP: F[L]=61% F[F]=2% Nali=127 L56F Unclassified NA NA PANTHER: F[L]=NA F[F]=NA L56F Neutral 7 0.138 SNPs&GO Q58E Neutral 8 0.079 PhD-SNP: F[Q]=22% F[E]=15% Nali=128 Q58E Unclassified NA NA PANTHER: F[Q]=NA F[E]=NA Q58E Neutral 8 0.087 SNPs&GO Q58R Neutral 7 0.166 PhD-SNP: F[Q]=22% F[R]=2% Nali=128 Q58R Unclassified NA NA PANTHER: F[Q]=NA F[R]=NA Q58R Neutral 7 0.145 SNPs&GO I62M Neutral 8 0.119 PhD-SNP: F[I]=11% F[M]=1% Nali=129 I62M Unclassified NA NA PANTHER: F[I]=NA F[M]=NA I62M Neutral 8 0.102 SNPs&GO Q67L Neutral 4 0.322 PhD-SNP: F[Q]=50% F[L]=1% Nali=124 Q67L Unclassified NA NA PANTHER: F[Q]=NA F[L]=NA Q67L Neutral 8 0.119 SNPs&GO G69D Neutral 4 0.322 PhD-SNP: F[G]=17% F[D]=4% Nali=119 G69D Unclassified NA NA PANTHER: F[G]=NA F[D]=NA G69D Neutral 5 0.249 SNPs&GO R70C Neutral 1 0.474 PhD-SNP: F[R]=56% F[C]=0% Nali=123 R70C Unclassified NA NA PANTHER: F[R]=NA F[C]=NA R70C Neutral 4 0.311 SNPs&GO R70H Neutral 6 0.221 PhD-SNP: F[R]=56% F[H]=17% Nali=123 R70H Unclassified NA NA PANTHER: F[R]=NA F[H]=NA R70H Neutral 7 0.127 SNPs&GO R70L Disease 2 0.580 PhD-SNP: F[R]=56% F[L]=1% Nali=123 R70L Unclassified NA NA PANTHER: F[R]=NA F[L]=NA R70L Neutral 3 0.341 SNPs&GO S72F Neutral 5 0.265 PhD-SNP: F[S]=32% F[F]=0% Nali=127 S72F Unclassified NA NA PANTHER: F[S]=NA F[F]=NA S72F Neutral 8 0.125 SNPs&GO S72Y Neutral 3 0.351 PhD-SNP: F[S]=32% F[Y]=0% Nali=127 S72Y Unclassified NA NA PANTHER: F[S]=NA F[Y]=NA S72Y Neutral 7 0.172 SNPs&GO K73E Neutral 6 0.189 PhD-SNP: F[K]=11% F[E]=1% Nali=127 K73E Unclassified NA NA PANTHER: F[K]=NA F[E]=NA K73E Neutral 7 0.149 SNPs&GO L79F Neutral 4 0.307 PhD-SNP: F[L]=59% F[F]=1% Nali=129 L79F Unclassified NA NA PANTHER: F[L]=NA F[F]=NA L79F Neutral 7 0.170 SNPs&GO L79S Disease 1 0.560 PhD-SNP: F[L]=59% F[S]=1% Nali=129 L79S Unclassified NA NA PANTHER: F[L]=NA F[S]=NA L79S Neutral 4 0.315 SNPs&GO I80M Neutral 7 0.171 PhD-SNP: F[I]=9% F[M]=0% Nali=130 I80M Unclassified NA NA PANTHER: F[I]=NA F[M]=NA I80M Neutral 8 0.110 SNPs&GO N82S Neutral 2 0.401 PhD-SNP: F[N]=58% F[S]=0% Nali=130 N82S Unclassified NA NA PANTHER: F[N]=NA F[S]=NA N82S Neutral 6 0.218 SNPs&GO R85K Neutral 8 0.100 PhD-SNP: F[R]=31% F[K]=29% Nali=128 R85K Unclassified NA NA PANTHER: F[R]=NA F[K]=NA R85K Neutral 9 0.071 SNPs&GO I86L Neutral 3 0.371 PhD-SNP: F[I]=35% F[L]=1% Nali=127 I86L Unclassified NA NA PANTHER: F[I]=NA F[L]=NA I86L Neutral 6 0.179 SNPs&GO R87K Neutral 9 0.052 PhD-SNP: F[R]=10% F[K]=35% Nali=127 R87K Unclassified NA NA PANTHER: F[R]=NA F[K]=NA R87K Neutral 9 0.040 SNPs&GO V89I Neutral 9 0.072 PhD-SNP: F[V]=9% F[I]=0% Nali=128 V89I Unclassified NA NA PANTHER: F[V]=NA F[I]=NA V89I Neutral 9 0.053 SNPs&GO L90F Neutral 6 0.222 PhD-SNP: F[L]=60% F[F]=18% Nali=128 L90F Unclassified NA NA PANTHER: F[L]=NA F[F]=NA L90F Neutral 8 0.093 SNPs&GO Q91R Neutral 1 0.436 PhD-SNP: F[Q]=73% F[R]=9% Nali=127 Q91R Unclassified NA NA PANTHER: F[Q]=NA F[R]=NA Q91R Neutral 5 0.254 SNPs&GO H95N Neutral 5 0.232 PhD-SNP: F[H]=10% F[N]=1% Nali=125 H95N Unclassified NA NA PANTHER: F[H]=NA F[N]=NA H95N Neutral 7 0.172 SNPs&GO H95R Neutral 4 0.283 PhD-SNP: F[H]=10% F[R]=1% Nali=125 H95R Unclassified NA NA PANTHER: F[H]=NA F[R]=NA H95R Neutral 5 0.230 SNPs&GO H95Y Neutral 4 0.310 PhD-SNP: F[H]=10% F[Y]=2% Nali=125 H95Y Unclassified NA NA PANTHER: F[H]=NA F[Y]=NA H95Y Neutral 6 0.223 SNPs&GO N97K Neutral 1 0.431 PhD-SNP: F[N]=32% F[K]=7% Nali=127 N97K Unclassified NA NA PANTHER: F[N]=NA F[K]=NA N97K Neutral 5 0.250 SNPs&GO M99V Neutral 5 0.269 PhD-SNP: F[M]=30% F[V]=14% Nali=131 M99V Unclassified NA NA PANTHER: F[M]=NA F[V]=NA M99V Neutral 8 0.118 SNPs&GO H100L Neutral 4 0.291 PhD-SNP: F[H]=16% F[L]=2% Nali=130 H100L Unclassified NA NA PANTHER: F[H]=NA F[L]=NA H100L Neutral 7 0.151 SNPs&GO H100Q Neutral 8 0.107 PhD-SNP: F[H]=16% F[Q]=26% Nali=130 H100Q Unclassified NA NA PANTHER: F[H]=NA F[Q]=NA H100Q Neutral 9 0.046 SNPs&GO H100R Neutral 4 0.280 PhD-SNP: F[H]=16% F[R]=2% Nali=130 H100R Unclassified NA NA PANTHER: F[H]=NA F[R]=NA H100R Neutral 6 0.194 SNPs&GO V101A Neutral 5 0.271 PhD-SNP: F[V]=8% F[A]=0% Nali=129 V101A Unclassified NA NA PANTHER: F[V]=NA F[A]=NA V101A Neutral 7 0.133 SNPs&GO V101I Neutral 8 0.119 PhD-SNP: F[V]=8% F[I]=8% Nali=129 V101I Unclassified NA NA PANTHER: F[V]=NA F[I]=NA V101I Neutral 8 0.080 SNPs&GO V104F Disease 1 0.543 PhD-SNP: F[V]=18% F[F]=0% Nali=129 V104F Unclassified NA NA PANTHER: F[V]=NA F[F]=NA V104F Neutral 6 0.199 SNPs&GO V104I Neutral 9 0.054 PhD-SNP: F[V]=18% F[I]=40% Nali=129 V104I Unclassified NA NA PANTHER: F[V]=NA F[I]=NA V104I Neutral 10 0.018 SNPs&GO N107H Neutral 4 0.316 PhD-SNP: F[N]=36% F[H]=20% Nali=130 N107H Unclassified NA NA PANTHER: F[N]=NA F[H]=NA N107H Neutral 8 0.091 SNPs&GO N107Y Disease 3 0.650 PhD-SNP: F[N]=36% F[Y]=1% Nali=130 N107Y Unclassified NA NA PANTHER: F[N]=NA F[Y]=NA N107Y Neutral 3 0.334 SNPs&GO C108S Disease 7 0.869 PhD-SNP: F[C]=52% F[S]=0% Nali=131 C108S Unclassified NA NA PANTHER: F[C]=NA F[S]=NA C108S Disease 3 0.661 SNPs&GO R110K Neutral 6 0.194 PhD-SNP: F[R]=21% F[K]=16% Nali=130 R110K Unclassified NA NA PANTHER: F[R]=NA F[K]=NA R110K Neutral 6 0.179 SNPs&GO I115V Neutral 4 0.284 PhD-SNP: F[I]=56% F[V]=2% Nali=130 I115V Unclassified NA NA PANTHER: F[I]=NA F[V]=NA I115V Neutral 7 0.145 SNPs&GO A117V Neutral 7 0.175 PhD-SNP: F[A]=22% F[V]=1% Nali=134 A117V Unclassified NA NA PANTHER: F[A]=NA F[V]=NA A117V Neutral 8 0.112 SNPs&GO A118T Neutral 8 0.091 PhD-SNP: F[A]=19% F[T]=10% Nali=134 A118T Unclassified NA NA PANTHER: F[A]=NA F[T]=NA A118T Neutral 9 0.062 SNPs&GO N120D Neutral 6 0.198 PhD-SNP: F[N]=27% F[D]=4% Nali=128 N120D Unclassified NA NA PANTHER: F[N]=NA F[D]=NA N120D Neutral 6 0.190 SNPs&GO N120S Neutral 8 0.089 PhD-SNP: F[N]=27% F[S]=13% Nali=128 N120S Unclassified NA NA PANTHER: F[N]=NA F[S]=NA N120S Neutral 9 0.047 SNPs&GO V123F Neutral 6 0.221 PhD-SNP: F[V]=19% F[F]=3% Nali=117 V123F Unclassified NA NA PANTHER: F[V]=NA F[F]=NA V123F Neutral 8 0.090 SNPs&GO G125E Neutral 5 0.266 PhD-SNP: F[G]=47% F[E]=6% Nali=123 G125E Unclassified NA NA PANTHER: F[G]=NA F[E]=NA G125E Neutral 7 0.129 SNPs&GO G125R Neutral 3 0.361 PhD-SNP: F[G]=47% F[R]=0% Nali=123 G125R Unclassified NA NA PANTHER: F[G]=NA F[R]=NA G125R Neutral 7 0.175 SNPs&GO P126S Neutral 9 0.064 PhD-SNP: F[P]=36% F[S]=9% Nali=122 P126S Unclassified NA NA PANTHER: F[P]=NA F[S]=NA P126S Neutral 9 0.032 SNPs&GO E128V Neutral 8 0.106 PhD-SNP: F[E]=27% F[V]=4% Nali=106 E128V Unclassified NA NA PANTHER: F[E]=NA F[V]=NA E128V Neutral 9 0.050 SNPs&GO S130A Neutral 9 0.047 PhD-SNP: F[S]=29% F[A]=5% Nali=124 S130A Unclassified NA NA PANTHER: F[S]=NA F[A]=NA S130A Neutral 9 0.048 SNPs&GO Q132R Neutral 9 0.061 PhD-SNP: F[Q]=40% F[R]=1% Nali=125 Q132R Unclassified NA NA PANTHER: F[Q]=NA F[R]=NA Q132R Neutral 9 0.037 SNPs&GO E138A Neutral 7 0.168 PhD-SNP: F[E]=46% F[A]=1% Nali=131 E138A Unclassified NA NA PANTHER: F[E]=NA F[A]=NA E138A Neutral 9 0.051 SNPs&GO R141K Neutral 9 0.044 PhD-SNP: F[R]=16% F[K]=21% Nali=127 R141K Unclassified NA NA PANTHER: F[R]=NA F[K]=NA R141K Neutral 9 0.039 SNPs&GO R141T Neutral 7 0.131 PhD-SNP: F[R]=16% F[T]=4% Nali=127 R141T Unclassified NA NA PANTHER: F[R]=NA F[T]=NA R141T Neutral 8 0.082 SNPs&GO V143G Neutral 1 0.473 PhD-SNP: F[V]=21% F[G]=0% Nali=132 V143G Unclassified NA NA PANTHER: F[V]=NA F[G]=NA V143G Neutral 5 0.254 SNPs&GO V143L Neutral 9 0.060 PhD-SNP: F[V]=21% F[L]=38% Nali=132 V143L Unclassified NA NA PANTHER: F[V]=NA F[L]=NA V143L Neutral 10 0.019 SNPs&GO V143M Neutral 8 0.119 PhD-SNP: F[V]=21% F[M]=8% Nali=132 V143M Unclassified NA NA PANTHER: F[V]=NA F[M]=NA V143M Neutral 9 0.056 SNPs&GO E144D Neutral 8 0.097 PhD-SNP: F[E]=38% F[D]=25% Nali=132 E144D Unclassified NA NA PANTHER: F[E]=NA F[D]=NA E144D Neutral 9 0.039 SNPs&GO H145Q Neutral 8 0.089 PhD-SNP: F[H]=19% F[Q]=25% Nali=129 H145Q Unclassified NA NA PANTHER: F[H]=NA F[Q]=NA H145Q Neutral 9 0.043 SNPs&GO K146R Neutral 9 0.046 PhD-SNP: F[K]=35% F[R]=21% Nali=129 K146R Unclassified NA NA PANTHER: F[K]=NA F[R]=NA K146R Neutral 10 0.021 SNPs&GO V147G Disease 2 0.613 PhD-SNP: F[V]=47% F[G]=0% Nali=130 V147G Unclassified NA NA PANTHER: F[V]=NA F[G]=NA V147G Neutral 4 0.313 SNPs&GO A148P Neutral 3 0.369 PhD-SNP: F[A]=11% F[P]=1% Nali=130 A148P Unclassified NA NA PANTHER: F[A]=NA F[P]=NA A148P Neutral 6 0.185 SNPs&GO A149G Neutral 7 0.129 PhD-SNP: F[A]=12% F[G]=3% Nali=131 A149G Unclassified NA NA PANTHER: F[A]=NA F[G]=NA A149G Neutral 8 0.093 SNPs&GO A149V Neutral 8 0.088 PhD-SNP: F[A]=12% F[V]=4% Nali=131 A149V Unclassified NA NA PANTHER: F[A]=NA F[V]=NA A149V Neutral 9 0.059 SNPs&GO I150V Neutral 8 0.084 PhD-SNP: F[I]=24% F[V]=17% Nali=131 I150V Unclassified NA NA PANTHER: F[I]=NA F[V]=NA I150V Neutral 9 0.043 SNPs&GO N152K Neutral 8 0.110 PhD-SNP: F[N]=21% F[K]=8% Nali=130 N152K Unclassified NA NA PANTHER: F[N]=NA F[K]=NA N152K Neutral 8 0.107 SNPs&GO S153N Neutral 8 0.112 PhD-SNP: F[S]=23% F[N]=0% Nali=128 S153N Unclassified NA NA PANTHER: F[S]=NA F[N]=NA S153N Neutral 9 0.069 SNPs&GO V154M Neutral 5 0.272 PhD-SNP: F[V]=48% F[M]=6% Nali=129 V154M Unclassified NA NA PANTHER: F[V]=NA F[M]=NA V154M Neutral 8 0.085 SNPs&GO Q155K Disease 0 0.524 PhD-SNP: F[Q]=63% F[K]=2% Nali=130 Q155K Unclassified NA NA PANTHER: F[Q]=NA F[K]=NA Q155K Neutral 3 0.331 SNPs&GO M156T Neutral 7 0.151 PhD-SNP: F[M]=12% F[T]=4% Nali=131 M156T Unclassified NA NA PANTHER: F[M]=NA F[T]=NA M156T Neutral 8 0.119 SNPs&GO M156V Neutral 7 0.128 PhD-SNP: F[M]=12% F[V]=4% Nali=131 M156V Unclassified NA NA PANTHER: F[M]=NA F[V]=NA M156V Neutral 8 0.107 SNPs&GO T157A Neutral 8 0.111 PhD-SNP: F[T]=34% F[A]=5% Nali=128 T157A Unclassified NA NA PANTHER: F[T]=NA F[A]=NA T157A Neutral 8 0.077 SNPs&GO T161I Neutral 9 0.030 PhD-SNP: F[T]=9% F[I]=26% Nali=131 T161I Unclassified NA NA PANTHER: F[T]=NA F[I]=NA T161I Neutral 9 0.034 SNPs&GO K162N Neutral 2 0.405 PhD-SNP: F[K]=57% F[N]=1% Nali=132 K162N Unclassified NA NA PANTHER: F[K]=NA F[N]=NA K162N Neutral 5 0.248 SNPs&GO Y163H Neutral 7 0.134 PhD-SNP: F[Y]=17% F[H]=3% Nali=129 Y163H Unclassified NA NA PANTHER: F[Y]=NA F[H]=NA Y163H Neutral 8 0.091 SNPs&GO E165K Neutral 1 0.445 PhD-SNP: F[E]=61% F[K]=11% Nali=134 E165K Unclassified NA NA PANTHER: F[E]=NA F[K]=NA E165K Neutral 4 0.321 SNPs&GO Q168E Disease 1 0.566 PhD-SNP: F[Q]=84% F[E]=1% Nali=137 Q168E Unclassified NA NA PANTHER: F[Q]=NA F[E]=NA Q168E Neutral 1 0.428 SNPs&GO E170K Neutral 1 0.457 PhD-SNP: F[E]=35% F[K]=2% Nali=135 E170K Unclassified NA NA PANTHER: F[E]=NA F[K]=NA E170K Neutral 2 0.401 SNPs&GO E170Q Neutral 4 0.281 PhD-SNP: F[E]=35% F[Q]=1% Nali=135 E170Q Unclassified NA NA PANTHER: F[E]=NA F[Q]=NA E170Q Neutral 6 0.182 SNPs&GO F171Y Neutral 2 0.386 PhD-SNP: F[F]=62% F[Y]=20% Nali=135 F171Y Unclassified NA NA PANTHER: F[F]=NA F[Y]=NA F171Y Neutral 6 0.208 SNPs&GO R174G Neutral 4 0.287 PhD-SNP: F[R]=25% F[G]=1% Nali=136 R174G Unclassified NA NA PANTHER: F[R]=NA F[G]=NA R174G Neutral 3 0.352 SNPs&GO K176R Neutral 2 0.404 PhD-SNP: F[K]=50% F[R]=1% Nali=135 K176R Unclassified NA NA PANTHER: F[K]=NA F[R]=NA K176R Neutral 6 0.194 SNPs&GO T177A Neutral 5 0.250 PhD-SNP: F[T]=49% F[A]=1% Nali=134 T177A Unclassified NA NA PANTHER: F[T]=NA F[A]=NA T177A Neutral 6 0.194 SNPs&GO T177I Neutral 4 0.290 PhD-SNP: F[T]=49% F[I]=4% Nali=134 T177I Unclassified NA NA PANTHER: F[T]=NA F[I]=NA T177I Neutral 5 0.227 SNPs&GO I178V Neutral 7 0.145 PhD-SNP: F[I]=16% F[V]=5% Nali=135 I178V Unclassified NA NA PANTHER: F[I]=NA F[V]=NA I178V Neutral 8 0.112 SNPs&GO Q179L Neutral 1 0.432 PhD-SNP: F[Q]=44% F[L]=1% Nali=133 Q179L Unclassified NA NA PANTHER: F[Q]=NA F[L]=NA Q179L Neutral 6 0.194 SNPs&GO T180A Neutral 8 0.094 PhD-SNP: F[T]=14% F[A]=5% Nali=132 T180A Unclassified NA NA PANTHER: F[T]=NA F[A]=NA T180A Neutral 8 0.096 SNPs&GO T180S Neutral 9 0.040 PhD-SNP: F[T]=14% F[S]=30% Nali=132 T180S Unclassified NA NA PANTHER: F[T]=NA F[S]=NA T180S Neutral 9 0.033 SNPs&GO M181I Neutral 8 0.098 PhD-SNP: F[M]=13% F[I]=4% Nali=133 M181I Unclassified NA NA PANTHER: F[M]=NA F[I]=NA M181I Neutral 8 0.120 SNPs&GO D182N Neutral 5 0.237 PhD-SNP: F[D]=25% F[N]=0% Nali=132 D182N Unclassified NA NA PANTHER: F[D]=NA F[N]=NA D182N Neutral 8 0.120 SNPs&GO S184G Neutral 9 0.062 PhD-SNP: F[S]=15% F[G]=9% Nali=136 S184G Unclassified NA NA PANTHER: F[S]=NA F[G]=NA S184G Neutral 9 0.061 SNPs&GO S184N Neutral 9 0.063 PhD-SNP: F[S]=15% F[N]=10% Nali=136 S184N Unclassified NA NA PANTHER: F[S]=NA F[N]=NA S184N Neutral 9 0.050 SNPs&GO D185E Neutral 9 0.064 PhD-SNP: F[D]=26% F[E]=10% Nali=135 D185E Unclassified NA NA PANTHER: F[D]=NA F[E]=NA D185E Neutral 9 0.044 SNPs&GO N187I Neutral 4 0.281 PhD-SNP: F[N]=33% F[I]=0% Nali=135 N187I Unclassified NA NA PANTHER: F[N]=NA F[I]=NA N187I Neutral 6 0.193 SNPs&GO N187K Neutral 5 0.253 PhD-SNP: F[N]=33% F[K]=2% Nali=135 N187K Unclassified NA NA PANTHER: F[N]=NA F[K]=NA N187K Neutral 6 0.186 SNPs&GO N187Y Neutral 5 0.269 PhD-SNP: F[N]=33% F[Y]=0% Nali=135 N187Y Unclassified NA NA PANTHER: F[N]=NA F[Y]=NA N187Y Neutral 7 0.135 SNPs&GO M190I Neutral 9 0.061 PhD-SNP: F[M]=9% F[I]=1% Nali=134 M190I Unclassified NA NA PANTHER: F[M]=NA F[I]=NA M190I Neutral 8 0.076 SNPs&GO Q193L Neutral 2 0.384 PhD-SNP: F[Q]=63% F[L]=2% Nali=132 Q193L Unclassified NA NA PANTHER: F[Q]=NA F[L]=NA Q193L Neutral 7 0.137 SNPs&GO E194K Neutral 4 0.321 PhD-SNP: F[E]=58% F[K]=18% Nali=129 E194K Unclassified NA NA PANTHER: F[E]=NA F[K]=NA E194K Neutral 8 0.114 SNPs&GO L196S Neutral 6 0.214 PhD-SNP: F[L]=32% F[S]=6% Nali=129 L196S Unclassified NA NA PANTHER: F[L]=NA F[S]=NA L196S Neutral 8 0.105 SNPs&GO T197K Neutral 7 0.158 PhD-SNP: F[T]=20% F[K]=6% Nali=127 T197K Unclassified NA NA PANTHER: F[T]=NA F[K]=NA T197K Neutral 8 0.109 SNPs&GO M201I Neutral 6 0.213 PhD-SNP: F[M]=45% F[I]=4% Nali=139 M201I Unclassified NA NA PANTHER: F[M]=NA F[I]=NA M201I Neutral 7 0.147 SNPs&GO S204I Neutral 7 0.150 PhD-SNP: F[S]=12% F[I]=1% Nali=137 S204I Unclassified NA NA PANTHER: F[S]=NA F[I]=NA S204I Neutral 7 0.148 SNPs&GO S204R Neutral 7 0.172 PhD-SNP: F[S]=12% F[R]=7% Nali=137 S204R Unclassified NA NA PANTHER: F[S]=NA F[R]=NA S204R Neutral 7 0.140 SNPs&GO L205I Neutral 5 0.251 PhD-SNP: F[L]=74% F[I]=4% Nali=136 L205I Unclassified NA NA PANTHER: F[L]=NA F[I]=NA L205I Neutral 6 0.208 SNPs&GO D206N Neutral 7 0.171 PhD-SNP: F[D]=47% F[N]=4% Nali=136 D206N Unclassified NA NA PANTHER: F[D]=NA F[N]=NA D206N Neutral 8 0.084 SNPs&GO F207I Neutral 8 0.116 PhD-SNP: F[F]=16% F[I]=7% Nali=136 F207I Unclassified NA NA PANTHER: F[F]=NA F[I]=NA F207I Neutral 7 0.129 SNPs&GO F207L Neutral 8 0.113 PhD-SNP: F[F]=16% F[L]=4% Nali=136 F207L Unclassified NA NA PANTHER: F[F]=NA F[L]=NA F207L Neutral 8 0.088 SNPs&GO E211D Neutral 5 0.229 PhD-SNP: F[E]=52% F[D]=9% Nali=140 E211D Unclassified NA NA PANTHER: F[E]=NA F[D]=NA E211D Neutral 7 0.159 SNPs&GO A212T Neutral 8 0.083 PhD-SNP: F[A]=13% F[T]=5% Nali=139 A212T Unclassified NA NA PANTHER: F[A]=NA F[T]=NA A212T Neutral 9 0.056 SNPs&GO A212V Neutral 9 0.046 PhD-SNP: F[A]=13% F[V]=29% Nali=139 A212V Unclassified NA NA PANTHER: F[A]=NA F[V]=NA A212V Neutral 9 0.030 SNPs&GO L213F Neutral 6 0.208 PhD-SNP: F[L]=39% F[F]=1% Nali=139 L213F Unclassified NA NA PANTHER: F[L]=NA F[F]=NA L213F Neutral 8 0.097 SNPs&GO L213I Neutral 7 0.128 PhD-SNP: F[L]=39% F[I]=9% Nali=139 L213I Unclassified NA NA PANTHER: F[L]=NA F[I]=NA L213I Neutral 8 0.086 SNPs&GO S214G Neutral 6 0.184 PhD-SNP: F[S]=25% F[G]=1% Nali=141 S214G Unclassified NA NA PANTHER: F[S]=NA F[G]=NA S214G Neutral 7 0.148 SNPs&GO K215Q Neutral 7 0.168 PhD-SNP: F[K]=42% F[Q]=12% Nali=141 K215Q Unclassified NA NA PANTHER: F[K]=NA F[Q]=NA K215Q Neutral 9 0.068 SNPs&GO T217I Neutral 8 0.078 PhD-SNP: F[T]=12% F[I]=6% Nali=140 T217I Unclassified NA NA PANTHER: F[T]=NA F[I]=NA T217I Neutral 8 0.080 SNPs&GO I219T Neutral 8 0.088 PhD-SNP: F[I]=12% F[T]=19% Nali=132 I219T Unclassified NA NA PANTHER: F[I]=NA F[T]=NA I219T Neutral 9 0.039 SNPs&GO I219V Neutral 9 0.047 PhD-SNP: F[I]=12% F[V]=12% Nali=132 I219V Unclassified NA NA PANTHER: F[I]=NA F[V]=NA I219V Neutral 9 0.042 SNPs&GO I220N Neutral 0 0.494 PhD-SNP: F[I]=18% F[N]=0% Nali=133 I220N Unclassified NA NA PANTHER: F[I]=NA F[N]=NA I220N Neutral 4 0.276 SNPs&GO H221R Neutral 7 0.139 PhD-SNP: F[H]=10% F[R]=3% Nali=132 H221R Unclassified NA NA PANTHER: F[H]=NA F[R]=NA H221R Neutral 7 0.150 SNPs&GO E222D Neutral 8 0.112 PhD-SNP: F[E]=20% F[D]=0% Nali=131 E222D Unclassified NA NA PANTHER: F[E]=NA F[D]=NA E222D Neutral 8 0.099 SNPs&GO L225P Neutral 1 0.465 PhD-SNP: F[L]=16% F[P]=1% Nali=131 L225P Unclassified NA NA PANTHER: F[L]=NA F[P]=NA L225P Neutral 4 0.288 SNPs&GO M227T Neutral 6 0.190 PhD-SNP: F[M]=13% F[T]=0% Nali=139 M227T Unclassified NA NA PANTHER: F[M]=NA F[T]=NA M227T Neutral 7 0.143 SNPs&GO T229N Neutral 7 0.141 PhD-SNP: F[T]=18% F[N]=9% Nali=126 T229N Unclassified NA NA PANTHER: F[T]=NA F[N]=NA T229N Neutral 8 0.122 SNPs&GO M230I Neutral 8 0.096 PhD-SNP: F[M]=11% F[I]=18% Nali=151 M230I Unclassified NA NA PANTHER: F[M]=NA F[I]=NA M230I Neutral 8 0.080 SNPs&GO L231I Neutral 8 0.103 PhD-SNP: F[L]=51% F[I]=21% Nali=153 L231I Unclassified NA NA PANTHER: F[L]=NA F[I]=NA L231I Neutral 8 0.083 SNPs&GO I232L Neutral 8 0.124 PhD-SNP: F[I]=8% F[L]=12% Nali=153 I232L Unclassified NA NA PANTHER: F[I]=NA F[L]=NA I232L Neutral 8 0.092 SNPs&GO I232M Neutral 7 0.151 PhD-SNP: F[I]=8% F[M]=1% Nali=153 I232M Unclassified NA NA PANTHER: F[I]=NA F[M]=NA I232M Neutral 7 0.130 SNPs&GO I232T Neutral 7 0.158 PhD-SNP: F[I]=8% F[T]=6% Nali=153 I232T Unclassified NA NA PANTHER: F[I]=NA F[T]=NA I232T Neutral 8 0.087 SNPs&GO I232V Neutral 8 0.085 PhD-SNP: F[I]=8% F[V]=3% Nali=153 I232V Unclassified NA NA PANTHER: F[I]=NA F[V]=NA I232V Neutral 8 0.092 SNPs&GO E233K Neutral 3 0.326 PhD-SNP: F[E]=33% F[K]=9% Nali=152 E233K Unclassified NA NA PANTHER: F[E]=NA F[K]=NA E233K Neutral 5 0.243 SNPs&GO E234D Neutral 1 0.466 PhD-SNP: F[E]=78% F[D]=1% Nali=151 E234D Unclassified NA NA PANTHER: F[E]=NA F[D]=NA E234D Neutral 2 0.384 SNPs&GO E234K Disease 1 0.550 PhD-SNP: F[E]=78% F[K]=9% Nali=151 E234K Unclassified NA NA PANTHER: F[E]=NA F[K]=NA E234K Neutral 2 0.383 SNPs&GO R240L Disease 5 0.727 PhD-SNP: F[R]=62% F[L]=4% Nali=156 R240L Unclassified NA NA PANTHER: F[R]=NA F[L]=NA R240L Disease 0 0.514 SNPs&GO R240Q Neutral 0 0.477 PhD-SNP: F[R]=62% F[Q]=5% Nali=156 R240Q Unclassified NA NA PANTHER: F[R]=NA F[Q]=NA R240Q Neutral 4 0.302 SNPs&GO R240W Disease 4 0.717 PhD-SNP: F[R]=62% F[W]=4% Nali=156 R240W Unclassified NA NA PANTHER: F[R]=NA F[W]=NA R240W Disease 1 0.535 SNPs&GO R241Q Neutral 4 0.293 PhD-SNP: F[R]=59% F[Q]=15% Nali=156 R241Q Unclassified NA NA PANTHER: F[R]=NA F[Q]=NA R241Q Neutral 7 0.162 SNPs&GO R241W Disease 4 0.701 PhD-SNP: F[R]=59% F[W]=1% Nali=156 R241W Unclassified NA NA PANTHER: F[R]=NA F[W]=NA R241W Disease 0 0.507 SNPs&GO Q243K Disease 2 0.600 PhD-SNP: F[Q]=75% F[K]=6% Nali=156 Q243K Unclassified NA NA PANTHER: F[Q]=NA F[K]=NA Q243K Neutral 2 0.394 SNPs&GO I244M Neutral 5 0.235 PhD-SNP: F[I]=28% F[M]=5% Nali=154 I244M Unclassified NA NA PANTHER: F[I]=NA F[M]=NA I244M Neutral 8 0.121 SNPs&GO I244N Disease 3 0.668 PhD-SNP: F[I]=28% F[N]=0% Nali=154 I244N Unclassified NA NA PANTHER: F[I]=NA F[N]=NA I244N Neutral 3 0.375 SNPs&GO A245S Disease 0 0.512 PhD-SNP: F[A]=80% F[S]=7% Nali=155 A245S Unclassified NA NA PANTHER: F[A]=NA F[S]=NA A245S Neutral 5 0.246 SNPs&GO A245T Disease 5 0.732 PhD-SNP: F[A]=80% F[T]=0% Nali=155 A245T Unclassified NA NA PANTHER: F[A]=NA F[T]=NA A245T Neutral 3 0.342 SNPs&GO A245V Disease 3 0.659 PhD-SNP: F[A]=80% F[V]=0% Nali=155 A245V Unclassified NA NA PANTHER: F[A]=NA F[V]=NA A245V Neutral 3 0.350 SNPs&GO C246G Neutral 1 0.433 PhD-SNP: F[C]=56% F[G]=30% Nali=156 C246G Unclassified NA NA PANTHER: F[C]=NA F[G]=NA C246G Neutral 5 0.260 SNPs&GO C246R Disease 8 0.883 PhD-SNP: F[C]=56% F[R]=1% Nali=156 C246R Unclassified NA NA PANTHER: F[C]=NA F[R]=NA C246R Disease 3 0.674 SNPs&GO C246Y Disease 8 0.888 PhD-SNP: F[C]=56% F[Y]=1% Nali=156 C246Y Unclassified NA NA PANTHER: F[C]=NA F[Y]=NA C246Y Disease 4 0.702 SNPs&GO I247M Disease 3 0.650 PhD-SNP: F[I]=62% F[M]=0% Nali=155 I247M Unclassified NA NA PANTHER: F[I]=NA F[M]=NA I247M Neutral 4 0.307 SNPs&GO I247V Neutral 1 0.454 PhD-SNP: F[I]=62% F[V]=2% Nali=155 I247V Unclassified NA NA PANTHER: F[I]=NA F[V]=NA I247V Neutral 5 0.250 SNPs&GO G248R Disease 7 0.858 PhD-SNP: F[G]=96% F[R]=2% Nali=155 G248R Unclassified NA NA PANTHER: F[G]=NA F[R]=NA G248R Disease 2 0.602 SNPs&GO G249D Disease 6 0.795 PhD-SNP: F[G]=57% F[D]=0% Nali=155 G249D Unclassified NA NA PANTHER: F[G]=NA F[D]=NA G249D Disease 0 0.519 SNPs&GO H252Q Neutral 7 0.161 PhD-SNP: F[H]=11% F[Q]=2% Nali=154 H252Q Unclassified NA NA PANTHER: F[H]=NA F[Q]=NA H252Q Neutral 8 0.093 SNPs&GO H252R Neutral 6 0.208 PhD-SNP: F[H]=11% F[R]=1% Nali=154 H252R Unclassified NA NA PANTHER: F[H]=NA F[R]=NA H252R Neutral 7 0.140 SNPs&GO H252Y Neutral 5 0.237 PhD-SNP: F[H]=11% F[Y]=0% Nali=154 H252Y Unclassified NA NA PANTHER: F[H]=NA F[Y]=NA H252Y Neutral 7 0.143 SNPs&GO N253H Neutral 7 0.174 PhD-SNP: F[N]=10% F[H]=1% Nali=154 N253H Unclassified NA NA PANTHER: F[N]=NA F[H]=NA N253H Neutral 8 0.083 SNPs&GO N253S Neutral 9 0.066 PhD-SNP: F[N]=10% F[S]=11% Nali=154 N253S Unclassified NA NA PANTHER: F[N]=NA F[S]=NA N253S Neutral 9 0.035 SNPs&GO D256N Disease 3 0.656 PhD-SNP: F[D]=73% F[N]=4% Nali=156 D256N Unclassified NA NA PANTHER: F[D]=NA F[N]=NA D256N Neutral 3 0.333 SNPs&GO Q257R Neutral 5 0.269 PhD-SNP: F[Q]=46% F[R]=10% Nali=156 Q257R Unclassified NA NA PANTHER: F[Q]=NA F[R]=NA Q257R Neutral 8 0.118 SNPs&GO Q259H Disease 1 0.554 PhD-SNP: F[Q]=75% F[H]=0% Nali=155 Q259H Unclassified NA NA PANTHER: F[Q]=NA F[H]=NA Q259H Neutral 6 0.224 SNPs&GO N260D Neutral 5 0.237 PhD-SNP: F[N]=34% F[D]=2% Nali=154 N260D Unclassified NA NA PANTHER: F[N]=NA F[D]=NA N260D Neutral 7 0.136 SNPs&GO N260K Neutral 5 0.265 PhD-SNP: F[N]=34% F[K]=6% Nali=154 N260K Unclassified NA NA PANTHER: F[N]=NA F[K]=NA N260K Neutral 7 0.136 SNPs&GO F262C Neutral 4 0.323 PhD-SNP: F[F]=47% F[C]=27% Nali=151 F262C Unclassified NA NA PANTHER: F[F]=NA F[C]=NA F262C Neutral 8 0.099 SNPs&GO F262L Neutral 2 0.378 PhD-SNP: F[F]=47% F[L]=6% Nali=151 F262L Unclassified NA NA PANTHER: F[F]=NA F[L]=NA F262L Neutral 8 0.116 SNPs&GO L265S Disease 1 0.557 PhD-SNP: F[L]=60% F[S]=1% Nali=150 L265S Unclassified NA NA PANTHER: F[L]=NA F[S]=NA L265S Neutral 3 0.365 SNPs&GO L269I Neutral 9 0.064 PhD-SNP: F[L]=46% F[I]=31% Nali=148 L269I Unclassified NA NA PANTHER: F[L]=NA F[I]=NA L269I Neutral 9 0.044 SNPs&GO F270L Neutral 6 0.198 PhD-SNP: F[F]=29% F[L]=16% Nali=152 F270L Unclassified NA NA PANTHER: F[F]=NA F[L]=NA F270L Neutral 8 0.099 SNPs&GO Q271H Neutral 4 0.300 PhD-SNP: F[Q]=67% F[H]=12% Nali=152 Q271H Unclassified NA NA PANTHER: F[Q]=NA F[H]=NA Q271H Neutral 7 0.155 SNPs&GO Q271R Neutral 1 0.465 PhD-SNP: F[Q]=67% F[R]=1% Nali=152 Q271R Unclassified NA NA PANTHER: F[Q]=NA F[R]=NA Q271R Neutral 5 0.266 SNPs&GO R273G Disease 0 0.504 PhD-SNP: F[R]=76% F[G]=0% Nali=148 R273G Unclassified NA NA PANTHER: F[R]=NA F[G]=NA R273G Neutral 1 0.458 SNPs&GO R273K Neutral 5 0.260 PhD-SNP: F[R]=76% F[K]=10% Nali=148 R273K Unclassified NA NA PANTHER: F[R]=NA F[K]=NA R273K Neutral 5 0.236 SNPs&GO E277Q Neutral 8 0.077 PhD-SNP: F[E]=11% F[Q]=3% Nali=148 E277Q Unclassified NA NA PANTHER: F[E]=NA F[Q]=NA E277Q Neutral 9 0.066 SNPs&GO E280K Neutral 6 0.195 PhD-SNP: F[E]=45% F[K]=10% Nali=142 E280K Unclassified NA NA PANTHER: F[E]=NA F[K]=NA E280K Neutral 6 0.183 SNPs&GO Q282H Neutral 7 0.145 PhD-SNP: F[Q]=12% F[H]=1% Nali=145 Q282H Unclassified NA NA PANTHER: F[Q]=NA F[H]=NA Q282H Neutral 8 0.100 SNPs&GO T284I Neutral 8 0.091 PhD-SNP: F[T]=10% F[I]=3% Nali=144 T284I Unclassified NA NA PANTHER: F[T]=NA F[I]=NA T284I Neutral 8 0.103 SNPs&GO K285R Neutral 7 0.167 PhD-SNP: F[K]=56% F[R]=6% Nali=142 K285R Unclassified NA NA PANTHER: F[K]=NA F[R]=NA K285R Neutral 9 0.071 SNPs&GO M286I Neutral 9 0.067 PhD-SNP: F[M]=11% F[I]=5% Nali=148 M286I Unclassified NA NA PANTHER: F[M]=NA F[I]=NA M286I Neutral 9 0.072 SNPs&GO M286L Neutral 9 0.051 PhD-SNP: F[M]=11% F[L]=35% Nali=148 M286L Unclassified NA NA PANTHER: F[M]=NA F[L]=NA M286L Neutral 9 0.026 SNPs&GO M286T Neutral 7 0.136 PhD-SNP: F[M]=11% F[T]=1% Nali=148 M286T Unclassified NA NA PANTHER: F[M]=NA F[T]=NA M286T Neutral 8 0.101 SNPs&GO T287A Neutral 8 0.097 PhD-SNP: F[T]=40% F[A]=5% Nali=130 T287A Unclassified NA NA PANTHER: F[T]=NA F[A]=NA T287A Neutral 8 0.083 SNPs&GO T287K Neutral 5 0.257 PhD-SNP: F[T]=40% F[K]=2% Nali=130 T287K Unclassified NA NA PANTHER: F[T]=NA F[K]=NA T287K Neutral 6 0.191 SNPs&GO G290C Neutral 3 0.357 PhD-SNP: F[G]=44% F[C]=3% Nali=131 G290C Unclassified NA NA PANTHER: F[G]=NA F[C]=NA G290C Neutral 7 0.173 SNPs&GO G290S Neutral 6 0.196 PhD-SNP: F[G]=44% F[S]=6% Nali=131 G290S Unclassified NA NA PANTHER: F[G]=NA F[S]=NA G290S Neutral 8 0.076 SNPs&GO I293F Neutral 1 0.445 PhD-SNP: F[I]=59% F[F]=4% Nali=146 I293F Unclassified NA NA PANTHER: F[I]=NA F[F]=NA I293F Neutral 6 0.206 SNPs&GO P294L Neutral 2 0.378 PhD-SNP: F[P]=42% F[L]=0% Nali=145 P294L Unclassified NA NA PANTHER: F[P]=NA F[L]=NA P294L Neutral 6 0.207 SNPs&GO M295K Neutral 5 0.227 PhD-SNP: F[M]=6% F[K]=16% Nali=141 M295K Unclassified NA NA PANTHER: F[M]=NA F[K]=NA M295K Neutral 7 0.168 SNPs&GO R297G Neutral 0 0.484 PhD-SNP: F[R]=29% F[G]=1% Nali=146 R297G Unclassified NA NA PANTHER: F[R]=NA F[G]=NA R297G Neutral 2 0.413 SNPs&GO R297I Neutral 3 0.334 PhD-SNP: F[R]=29% F[I]=1% Nali=146 R297I Unclassified NA NA PANTHER: F[R]=NA F[I]=NA R297I Neutral 5 0.260 SNPs&GO T298I Neutral 6 0.212 PhD-SNP: F[T]=11% F[I]=3% Nali=149 T298I Unclassified NA NA PANTHER: F[T]=NA F[I]=NA T298I Neutral 6 0.182 SNPs&GO M300L Neutral 6 0.200 PhD-SNP: F[M]=16% F[L]=63% Nali=151 M300L Unclassified NA NA PANTHER: F[M]=NA F[L]=NA M300L Neutral 9 0.051 SNPs&GO M300T Neutral 1 0.469 PhD-SNP: F[M]=16% F[T]=2% Nali=151 M300T Unclassified NA NA PANTHER: F[M]=NA F[T]=NA M300T Neutral 4 0.306 SNPs&GO L301I Neutral 5 0.255 PhD-SNP: F[L]=28% F[I]=4% Nali=151 L301I Unclassified NA NA PANTHER: F[L]=NA F[I]=NA L301I Neutral 6 0.205 SNPs&GO E302K Disease 3 0.641 PhD-SNP: F[E]=42% F[K]=3% Nali=152 E302K Unclassified NA NA PANTHER: F[E]=NA F[K]=NA E302K Neutral 0 0.479 SNPs&GO V304A Neutral 4 0.312 PhD-SNP: F[V]=42% F[A]=9% Nali=151 V304A Unclassified NA NA PANTHER: F[V]=NA F[A]=NA V304A Neutral 7 0.153 SNPs&GO F306C Neutral 0 0.486 PhD-SNP: F[F]=11% F[C]=1% Nali=150 F306C Unclassified NA NA PANTHER: F[F]=NA F[C]=NA F306C Neutral 3 0.348 SNPs&GO F306S Neutral 4 0.293 PhD-SNP: F[F]=11% F[S]=12% Nali=150 F306S Unclassified NA NA PANTHER: F[F]=NA F[S]=NA F306S Neutral 6 0.210 SNPs&GO L307F Disease 3 0.652 PhD-SNP: F[L]=75% F[F]=1% Nali=152 L307F Unclassified NA NA PANTHER: F[L]=NA F[F]=NA L307F Disease 1 0.533 SNPs&GO I308S Disease 3 0.670 PhD-SNP: F[I]=22% F[S]=0% Nali=151 I308S Unclassified NA NA PANTHER: F[I]=NA F[S]=NA I308S Neutral 2 0.409 SNPs&GO I308V Neutral 4 0.293 PhD-SNP: F[I]=22% F[V]=0% Nali=151 I308V Unclassified NA NA PANTHER: F[I]=NA F[V]=NA I308V Neutral 6 0.225 SNPs&GO Y309C Neutral 1 0.434 PhD-SNP: F[Y]=15% F[C]=1% Nali=153 Y309C Unclassified NA NA PANTHER: F[Y]=NA F[C]=NA Y309C Neutral 3 0.333 SNPs&GO N310S Neutral 6 0.206 PhD-SNP: F[N]=29% F[S]=11% Nali=151 N310S Unclassified NA NA PANTHER: F[N]=NA F[S]=NA N310S Neutral 8 0.125 SNPs&GO L311F Disease 7 0.839 PhD-SNP: F[L]=97% F[F]=0% Nali=152 L311F Unclassified NA NA PANTHER: F[L]=NA F[F]=NA L311F Disease 6 0.790 SNPs&GO L311V Disease 6 0.801 PhD-SNP: F[L]=97% F[V]=1% Nali=152 L311V Unclassified NA NA PANTHER: F[L]=NA F[V]=NA L311V Disease 6 0.804 SNPs&GO F312L Neutral 6 0.201 PhD-SNP: F[F]=12% F[L]=20% Nali=152 F312L Unclassified NA NA PANTHER: F[F]=NA F[L]=NA F312L Neutral 8 0.121 SNPs&GO F312V Neutral 5 0.243 PhD-SNP: F[F]=12% F[V]=34% Nali=152 F312V Unclassified NA NA PANTHER: F[F]=NA F[V]=NA F312V Neutral 7 0.149 SNPs&GO K313N Neutral 2 0.385 PhD-SNP: F[K]=27% F[N]=1% Nali=152 K313N Unclassified NA NA PANTHER: F[K]=NA F[N]=NA K313N Neutral 4 0.292 SNPs&GO K313R Neutral 5 0.266 PhD-SNP: F[K]=27% F[R]=5% Nali=152 K313R Unclassified NA NA PANTHER: F[K]=NA F[R]=NA K313R Neutral 7 0.153 SNPs&GO R320Q Neutral 4 0.323 PhD-SNP: F[R]=32% F[Q]=0% Nali=150 R320Q Unclassified NA NA PANTHER: F[R]=NA F[Q]=NA R320Q Neutral 6 0.183 SNPs&GO C323R Disease 6 0.818 PhD-SNP: F[C]=80% F[R]=0% Nali=79 C323R Unclassified NA NA PANTHER: F[C]=NA F[R]=NA C323R Disease 3 0.642 SNPs&GO C323S Disease 3 0.646 PhD-SNP: F[C]=80% F[S]=6% Nali=79 C323S Unclassified NA NA PANTHER: F[C]=NA F[S]=NA C323S Neutral 2 0.404 SNPs&GO C323Y Disease 6 0.817 PhD-SNP: F[C]=80% F[Y]=0% Nali=79 C323Y Unclassified NA NA PANTHER: F[C]=NA F[Y]=NA C323Y Disease 3 0.658 SNPs&GO M324I Disease 3 0.672 PhD-SNP: F[M]=98% F[I]=0% Nali=81 M324I Unclassified NA NA PANTHER: F[M]=NA F[I]=NA M324I Neutral 1 0.454 SNPs&GO M324V Disease 5 0.725 PhD-SNP: F[M]=98% F[V]=0% Nali=81 M324V Unclassified NA NA PANTHER: F[M]=NA F[V]=NA M324V Disease 1 0.539 SNPs&GO P325L Disease 3 0.660 PhD-SNP: F[P]=87% F[L]=0% Nali=81 P325L Unclassified NA NA PANTHER: F[P]=NA F[L]=NA P325L Neutral 3 0.357 SNPs&GO T326A Neutral 5 0.229 PhD-SNP: F[T]=47% F[A]=0% Nali=74 T326A Unclassified NA NA PANTHER: F[T]=NA F[A]=NA T326A Neutral 7 0.146 SNPs&GO P331Q Disease 6 0.784 PhD-SNP: F[P]=99% F[Q]=0% Nali=148 P331Q Unclassified NA NA PANTHER: F[P]=NA F[Q]=NA P331Q Disease 1 0.543 SNPs&GO V333A Neutral 0 0.480 PhD-SNP: F[V]=81% F[A]=0% Nali=149 V333A Unclassified NA NA PANTHER: F[V]=NA F[A]=NA V333A Neutral 6 0.223 SNPs&GO L334F Neutral 2 0.405 PhD-SNP: F[L]=57% F[F]=1% Nali=150 L334F Unclassified NA NA PANTHER: F[L]=NA F[F]=NA L334F Neutral 6 0.184 SNPs&GO K335N Disease 5 0.726 PhD-SNP: F[K]=93% F[N]=0% Nali=151 K335N Unclassified NA NA PANTHER: F[K]=NA F[N]=NA K335N Neutral 1 0.471 SNPs&GO T336S Disease 4 0.680 PhD-SNP: F[T]=94% F[S]=0% Nali=151 T336S Unclassified NA NA PANTHER: F[T]=NA F[S]=NA T336S Neutral 1 0.472 SNPs&GO F340L Disease 7 0.859 PhD-SNP: F[F]=99% F[L]=0% Nali=149 F340L Unclassified NA NA PANTHER: F[F]=NA F[L]=NA F340L Disease 2 0.608 SNPs&GO F340V Disease 8 0.897 PhD-SNP: F[F]=99% F[V]=0% Nali=149 F340V Unclassified NA NA PANTHER: F[F]=NA F[V]=NA F340V Disease 6 0.789 SNPs&GO T341A Neutral 6 0.217 PhD-SNP: F[T]=53% F[A]=21% Nali=149 T341A Unclassified NA NA PANTHER: F[T]=NA F[A]=NA T341A Neutral 7 0.169 SNPs&GO T341S Neutral 5 0.254 PhD-SNP: F[T]=53% F[S]=15% Nali=149 T341S Unclassified NA NA PANTHER: F[T]=NA F[S]=NA T341S Neutral 7 0.145 SNPs&GO V342A Neutral 8 0.082 PhD-SNP: F[V]=37% F[A]=34% Nali=149 V342A Unclassified NA NA PANTHER: F[V]=NA F[A]=NA V342A Neutral 9 0.029 SNPs&GO K343Q Neutral 4 0.287 PhD-SNP: F[K]=39% F[Q]=1% Nali=149 K343Q Unclassified NA NA PANTHER: F[K]=NA F[Q]=NA K343Q Neutral 7 0.134 SNPs&GO L344V Neutral 9 0.037 PhD-SNP: F[L]=19% F[V]=63% Nali=149 L344V Unclassified NA NA PANTHER: F[L]=NA F[V]=NA L344V Neutral 10 0.015 SNPs&GO I348M Neutral 1 0.462 PhD-SNP: F[I]=18% F[M]=1% Nali=158 I348M Unclassified NA NA PANTHER: F[I]=NA F[M]=NA I348M Neutral 4 0.317 SNPs&GO I348T Disease 0 0.517 PhD-SNP: F[I]=18% F[T]=0% Nali=158 I348T Unclassified NA NA PANTHER: F[I]=NA F[T]=NA I348T Neutral 4 0.301 SNPs&GO K349N Neutral 2 0.421 PhD-SNP: F[K]=50% F[N]=8% Nali=158 K349N Unclassified NA NA PANTHER: F[K]=NA F[N]=NA K349N Neutral 4 0.283 SNPs&GO K349Q Neutral 1 0.472 PhD-SNP: F[K]=50% F[Q]=4% Nali=158 K349Q Unclassified NA NA PANTHER: F[K]=NA F[Q]=NA K349Q Neutral 5 0.244 SNPs&GO K349R Neutral 4 0.302 PhD-SNP: F[K]=50% F[R]=10% Nali=158 K349R Unclassified NA NA PANTHER: F[K]=NA F[R]=NA K349R Neutral 7 0.153 SNPs&GO L350F Neutral 5 0.238 PhD-SNP: F[L]=66% F[F]=16% Nali=123 L350F Unclassified NA NA PANTHER: F[L]=NA F[F]=NA L350F Neutral 7 0.153 SNPs&GO V357I Neutral 9 0.052 PhD-SNP: F[V]=17% F[I]=6% Nali=160 V357I Unclassified NA NA PANTHER: F[V]=NA F[I]=NA V357I Neutral 9 0.041 SNPs&GO A361T Neutral 6 0.220 PhD-SNP: F[A]=34% F[T]=7% Nali=157 A361T Unclassified NA NA PANTHER: F[A]=NA F[T]=NA A361T Neutral 8 0.105 SNPs&GO A361V Neutral 8 0.084 PhD-SNP: F[A]=34% F[V]=35% Nali=157 A361V Unclassified NA NA PANTHER: F[A]=NA F[V]=NA A361V Neutral 9 0.037 SNPs&GO I363F Neutral 3 0.340 PhD-SNP: F[I]=47% F[F]=20% Nali=157 I363F Unclassified NA NA PANTHER: F[I]=NA F[F]=NA I363F Neutral 8 0.095 SNPs&GO I363T Disease 1 0.548 PhD-SNP: F[I]=47% F[T]=2% Nali=157 I363T Unclassified NA NA PANTHER: F[I]=NA F[T]=NA I363T Neutral 6 0.177 SNPs&GO N366K Neutral 4 0.294 PhD-SNP: F[N]=23% F[K]=1% Nali=140 N366K Unclassified NA NA PANTHER: F[N]=NA F[K]=NA N366K Neutral 6 0.210 SNPs&GO V367L Neutral 8 0.100 PhD-SNP: F[V]=28% F[L]=18% Nali=145 V367L Unclassified NA NA PANTHER: F[V]=NA F[L]=NA V367L Neutral 9 0.042 SNPs&GO N372S Neutral 6 0.212 PhD-SNP: F[N]=32% F[S]=16% Nali=151 N372S Unclassified NA NA PANTHER: F[N]=NA F[S]=NA N372S Neutral 8 0.084 SNPs&GO R373Q Disease 3 0.655 PhD-SNP: F[R]=59% F[Q]=6% Nali=154 R373Q Unclassified NA NA PANTHER: F[R]=NA F[Q]=NA R373Q Neutral 3 0.326 SNPs&GO R374I Neutral 3 0.365 PhD-SNP: F[R]=32% F[I]=0% Nali=155 R374I Unclassified NA NA PANTHER: F[R]=NA F[I]=NA R374I Neutral 5 0.228 SNPs&GO F375L Disease 3 0.673 PhD-SNP: F[F]=62% F[L]=3% Nali=155 F375L Unclassified NA NA PANTHER: F[F]=NA F[L]=NA F375L Neutral 6 0.218 SNPs&GO V376A Neutral 5 0.254 PhD-SNP: F[V]=15% F[A]=4% Nali=154 V376A Unclassified NA NA PANTHER: F[V]=NA F[A]=NA V376A Neutral 7 0.136 SNPs&GO V376I Neutral 7 0.135 PhD-SNP: F[V]=15% F[I]=5% Nali=154 V376I Unclassified NA NA PANTHER: F[V]=NA F[I]=NA V376I Neutral 8 0.106 SNPs&GO N381H Neutral 2 0.396 PhD-SNP: F[N]=51% F[H]=13% Nali=155 N381H Unclassified NA NA PANTHER: F[N]=NA F[H]=NA N381H Neutral 7 0.137 SNPs&GO V382A Neutral 6 0.182 PhD-SNP: F[V]=13% F[A]=1% Nali=153 V382A Unclassified NA NA PANTHER: F[V]=NA F[A]=NA V382A Neutral 8 0.118 SNPs&GO V382L Neutral 8 0.111 PhD-SNP: F[V]=13% F[L]=14% Nali=153 V382L Unclassified NA NA PANTHER: F[V]=NA F[L]=NA V382L Neutral 9 0.067 SNPs&GO M385I Neutral 4 0.300 PhD-SNP: F[M]=48% F[I]=4% Nali=155 M385I Unclassified NA NA PANTHER: F[M]=NA F[I]=NA M385I Neutral 7 0.159 SNPs&GO M385T Neutral 2 0.418 PhD-SNP: F[M]=48% F[T]=4% Nali=155 M385T Unclassified NA NA PANTHER: F[M]=NA F[T]=NA M385T Neutral 6 0.196 SNPs&GO I387T Neutral 7 0.161 PhD-SNP: F[I]=12% F[T]=2% Nali=148 I387T Unclassified NA NA PANTHER: F[I]=NA F[T]=NA I387T Neutral 9 0.062 SNPs&GO I387V Neutral 9 0.037 PhD-SNP: F[I]=12% F[V]=16% Nali=148 I387V Unclassified NA NA PANTHER: F[I]=NA F[V]=NA I387V Neutral 10 0.018 SNPs&GO S390T Neutral 9 0.071 PhD-SNP: F[S]=41% F[T]=15% Nali=149 S390T Unclassified NA NA PANTHER: F[S]=NA F[T]=NA S390T Neutral 9 0.031 SNPs&GO N392S Neutral 7 0.137 PhD-SNP: F[N]=42% F[S]=14% Nali=151 N392S Unclassified NA NA PANTHER: F[N]=NA F[S]=NA N392S Neutral 9 0.058 SNPs&GO G393A Neutral 3 0.348 PhD-SNP: F[G]=71% F[A]=1% Nali=142 G393A Unclassified NA NA PANTHER: F[G]=NA F[A]=NA G393A Neutral 6 0.175 SNPs&GO V397A Neutral 9 0.054 PhD-SNP: F[V]=29% F[A]=56% Nali=157 V397A Unclassified NA NA PANTHER: F[V]=NA F[A]=NA V397A Neutral 10 0.008 SNPs&GO E398G Neutral 5 0.254 PhD-SNP: F[E]=43% F[G]=0% Nali=156 E398G Unclassified NA NA PANTHER: F[E]=NA F[G]=NA E398G Neutral 8 0.106 SNPs&GO R400L Disease 1 0.556 PhD-SNP: F[R]=69% F[L]=1% Nali=159 R400L Disease 2 0.596 PANTHER: F[R]=64% F[L]=1% R400L Disease 1 0.543 SNPs&GO R400Q Neutral 0 0.477 PhD-SNP: F[R]=69% F[Q]=1% Nali=159 R400Q Disease 0 0.509 PANTHER: F[R]=64% F[Q]=2% R400Q Neutral 1 0.430 SNPs&GO L402V Neutral 5 0.253 PhD-SNP: F[L]=56% F[V]=2% Nali=159 L402V Disease 1 0.538 PANTHER: F[L]=73% F[V]=4% L402V Neutral 4 0.284 SNPs&GO Q403L Neutral 7 0.169 PhD-SNP: F[Q]=42% F[L]=4% Nali=152 Q403L Disease 1 0.534 PANTHER: F[Q]=57% F[L]=2% Q403L Neutral 5 0.267 SNPs&GO P404L Neutral 7 0.147 PhD-SNP: F[P]=13% F[L]=76% Nali=150 P404L Neutral 9 0.043 PANTHER: F[P]=19% F[L]=15% P404L Neutral 9 0.071 SNPs&GO P404S Neutral 8 0.109 PhD-SNP: F[P]=13% F[S]=1% Nali=150 P404S Neutral 8 0.104 PANTHER: F[P]=19% F[S]=5% P404S Neutral 9 0.057 SNPs&GO P404T Neutral 8 0.085 PhD-SNP: F[P]=13% F[T]=0% Nali=150 P404T Neutral 8 0.116 PANTHER: F[P]=19% F[T]=4% P404T Neutral 9 0.036 SNPs&GO M407L Neutral 8 0.102 PhD-SNP: F[M]=11% F[L]=0% Nali=150 M407L Neutral 9 0.061 PANTHER: F[M]=15% F[L]=8% M407L Neutral 9 0.051 SNPs&GO S409C Neutral 7 0.134 PhD-SNP: F[S]=19% F[C]=9% Nali=139 S409C Neutral 8 0.108 PANTHER: F[S]=14% F[C]=35% S409C Neutral 10 0.015 SNPs&GO S410G Neutral 9 0.053 PhD-SNP: F[S]=27% F[G]=19% Nali=123 S410G Neutral 6 0.191 PANTHER: F[S]=17% F[G]=3% S410G Neutral 9 0.033 SNPs&GO G413A Neutral 7 0.139 PhD-SNP: F[G]=34% F[A]=4% Nali=113 G413A Neutral 8 0.094 PANTHER: F[G]=13% F[A]=6% G413A Neutral 8 0.081 SNPs&GO E417V Neutral 1 0.426 PhD-SNP: F[E]=48% F[V]=1% Nali=148 E417V Neutral 6 0.199 PANTHER: F[E]=25% F[V]=4% E417V Neutral 6 0.191 SNPs&GO C419Y Neutral 2 0.377 PhD-SNP: F[C]=11% F[Y]=0% Nali=121 C419Y Neutral 2 0.418 PANTHER: F[C]=21% F[Y]=1% C419Y Neutral 2 0.380 SNPs&GO H420P Disease 2 0.610 PhD-SNP: F[H]=14% F[P]=3% Nali=120 H420P Neutral 4 0.309 PANTHER: F[H]=15% F[P]=1% H420P Disease 1 0.535 SNPs&GO E425D Disease 2 0.613 PhD-SNP: F[E]=95% F[D]=0% Nali=154 E425D Disease 1 0.569 PANTHER: F[E]=75% F[D]=4% E425D Disease 2 0.586 SNPs&GO E425G Disease 4 0.681 PhD-SNP: F[E]=95% F[G]=0% Nali=154 E425G Disease 5 0.738 PANTHER: F[E]=75% F[G]=1% E425G Disease 4 0.715 SNPs&GO I429T Disease 3 0.674 PhD-SNP: F[I]=50% F[T]=0% Nali=154 I429T Neutral 4 0.304 PANTHER: F[I]=26% F[T]=2% I429T Neutral 2 0.406 SNPs&GO I429V Neutral 5 0.237 PhD-SNP: F[I]=50% F[V]=11% Nali=154 I429V Neutral 8 0.094 PANTHER: F[I]=26% F[V]=12% I429V Neutral 8 0.088 SNPs&GO T430M Neutral 5 0.239 PhD-SNP: F[T]=18% F[M]=0% Nali=154 T430M Neutral 3 0.367 PANTHER: F[T]=19% F[M]=1% T430M Neutral 6 0.178 SNPs&GO T430R Neutral 0 0.498 PhD-SNP: F[T]=18% F[R]=1% Nali=154 T430R Neutral 6 0.187 PANTHER: F[T]=19% F[R]=3% T430R Neutral 5 0.251 SNPs&GO F431C Disease 8 0.907 PhD-SNP: F[F]=97% F[C]=0% Nali=153 F431C Disease 8 0.922 PANTHER: F[F]=75% F[C]=0% F431C Disease 7 0.858 SNPs&GO I435V Neutral 7 0.160 PhD-SNP: F[I]=14% F[V]=8% Nali=153 I435V Neutral 8 0.094 PANTHER: F[I]=26% F[V]=12% I435V Neutral 9 0.072 SNPs&GO C436Y Neutral 1 0.465 PhD-SNP: F[C]=16% F[Y]=5% Nali=153 C436Y Neutral 5 0.237 PANTHER: F[C]=14% F[Y]=2% C436Y Neutral 4 0.277 SNPs&GO Y438C Neutral 3 0.347 PhD-SNP: F[Y]=10% F[C]=0% Nali=153 Y438C Neutral 0 0.485 PANTHER: F[Y]=18% F[C]=0% Y438C Neutral 4 0.309 SNPs&GO Y438H Neutral 6 0.177 PhD-SNP: F[Y]=10% F[H]=5% Nali=153 Y438H Neutral 5 0.247 PANTHER: F[Y]=18% F[H]=2% Y438H Neutral 7 0.163 SNPs&GO I442T Neutral 1 0.468 PhD-SNP: F[I]=39% F[T]=3% Nali=154 I442T Neutral 2 0.415 PANTHER: F[I]=48% F[T]=2% I442T Neutral 2 0.385 SNPs&GO I442V Neutral 6 0.197 PhD-SNP: F[I]=39% F[V]=8% Nali=154 I442V Neutral 7 0.135 PANTHER: F[I]=48% F[V]=14% I442V Neutral 8 0.083 SNPs&GO E445G Neutral 1 0.462 PhD-SNP: F[E]=38% F[G]=0% Nali=155 E445G Disease 5 0.746 PANTHER: F[E]=75% F[G]=1% E445G Disease 3 0.671 SNPs&GO E445K Neutral 4 0.321 PhD-SNP: F[E]=38% F[K]=16% Nali=155 E445K Disease 4 0.709 PANTHER: F[E]=75% F[K]=2% E445K Disease 3 0.654 SNPs&GO T446I Disease 4 0.716 PhD-SNP: F[T]=75% F[I]=4% Nali=159 T446I Disease 5 0.773 PANTHER: F[T]=72% F[I]=1% T446I Disease 5 0.726 SNPs&GO S447I Neutral 5 0.226 PhD-SNP: F[S]=18% F[I]=13% Nali=157 S447I Neutral 4 0.279 PANTHER: F[S]=26% F[I]=2% S447I Neutral 6 0.181 SNPs&GO S447R Neutral 2 0.419 PhD-SNP: F[S]=18% F[R]=0% Nali=157 S447R Neutral 3 0.339 PANTHER: F[S]=26% F[R]=2% S447R Neutral 3 0.356 SNPs&GO P450A Disease 1 0.549 PhD-SNP: F[P]=99% F[A]=0% Nali=158 P450A Disease 9 0.947 PANTHER: F[P]=95% F[A]=0% P450A Disease 4 0.702 SNPs&GO M453T Neutral 5 0.271 PhD-SNP: F[M]=10% F[T]=0% Nali=160 M453T Neutral 6 0.183 PANTHER: F[M]=16% F[T]=3% M453T Neutral 7 0.155 SNPs&GO N456K Disease 4 0.702 PhD-SNP: F[N]=53% F[K]=0% Nali=161 N456K Disease 5 0.733 PANTHER: F[N]=74% F[K]=1% N456K Disease 6 0.810 SNPs&GO P461S Neutral 0 0.480 PhD-SNP: F[P]=52% F[S]=13% Nali=161 P461S Disease 7 0.854 PANTHER: F[P]=89% F[S]=1% P461S Disease 4 0.683 SNPs&GO I467V Neutral 7 0.126 PhD-SNP: F[I]=64% F[V]=34% Nali=161 I467V Neutral 9 0.057 PANTHER: F[I]=30% F[V]=35% I467V Neutral 9 0.038 SNPs&GO I468V Neutral 5 0.254 PhD-SNP: F[I]=16% F[V]=4% Nali=160 I468V Neutral 8 0.093 PANTHER: F[I]=25% F[V]=12% I468V Neutral 8 0.080 SNPs&GO Y470C Disease 5 0.756 PhD-SNP: F[Y]=35% F[C]=2% Nali=160 Y470C Disease 5 0.765 PANTHER: F[Y]=58% F[C]=0% Y470C Disease 6 0.795 SNPs&GO N471H Disease 6 0.813 PhD-SNP: F[N]=90% F[H]=0% Nali=162 N471H Disease 9 0.949 PANTHER: F[N]=85% F[H]=0% N471H Disease 7 0.852 SNPs&GO V472M Neutral 7 0.128 PhD-SNP: F[V]=7% F[M]=31% Nali=162 V472M Neutral 5 0.233 PANTHER: F[V]=27% F[M]=3% V472M Neutral 7 0.162 SNPs&GO N475I Neutral 2 0.404 PhD-SNP: F[N]=16% F[I]=0% Nali=152 N475I Neutral 1 0.432 PANTHER: F[N]=21% F[I]=1% N475I Neutral 1 0.460 SNPs&GO N475S Neutral 8 0.103 PhD-SNP: F[N]=16% F[S]=18% Nali=152 N475S Neutral 7 0.160 PANTHER: F[N]=21% F[S]=5% N475S Neutral 8 0.103 SNPs&GO D476G Disease 0 0.507 PhD-SNP: F[D]=24% F[G]=0% Nali=150 D476G Neutral 1 0.436 PANTHER: F[D]=59% F[G]=2% D476G Disease 1 0.562 SNPs&GO D476N Neutral 5 0.270 PhD-SNP: F[D]=24% F[N]=11% Nali=150 D476N Neutral 3 0.368 PANTHER: F[D]=59% F[N]=4% D476N Neutral 1 0.432 SNPs&GO D476Y Disease 3 0.635 PhD-SNP: F[D]=24% F[Y]=1% Nali=150 D476Y Disease 4 0.712 PANTHER: F[D]=59% F[Y]=0% D476Y Disease 4 0.710 SNPs&GO N479H Disease 2 0.621 PhD-SNP: F[N]=71% F[H]=0% Nali=131 N479H Disease 8 0.898 PANTHER: F[N]=78% F[H]=0% N479H Disease 3 0.666 SNPs&GO N479K Disease 3 0.637 PhD-SNP: F[N]=71% F[K]=1% Nali=131 N479K Disease 6 0.793 PANTHER: F[N]=78% F[K]=1% N479K Disease 5 0.730 SNPs&GO N479S Disease 1 0.539 PhD-SNP: F[N]=71% F[S]=0% Nali=131 N479S Disease 5 0.752 PANTHER: F[N]=78% F[S]=2% N479S Disease 3 0.640 SNPs&GO V481F Neutral 2 0.411 PhD-SNP: F[V]=32% F[F]=5% Nali=154 V481F Neutral 3 0.337 PANTHER: F[V]=25% F[F]=2% V481F Neutral 5 0.265 SNPs&GO V481I Neutral 8 0.096 PhD-SNP: F[V]=32% F[I]=6% Nali=154 V481I Neutral 8 0.123 PANTHER: F[V]=25% F[I]=8% V481I Neutral 9 0.065 SNPs&GO N484K Neutral 8 0.120 PhD-SNP: F[N]=9% F[K]=0% Nali=160 N484K Neutral 7 0.147 PANTHER: F[N]=19% F[K]=5% N484K Neutral 8 0.088 SNPs&GO N485D Neutral 6 0.182 PhD-SNP: F[N]=32% F[D]=6% Nali=159 N485D Neutral 4 0.297 PANTHER: F[N]=52% F[D]=5% N485D Neutral 7 0.129 SNPs&GO N485T Neutral 5 0.238 PhD-SNP: F[N]=32% F[T]=1% Nali=159 N485T Neutral 2 0.397 PANTHER: F[N]=52% F[T]=3% N485T Neutral 6 0.192 SNPs&GO P488L Neutral 8 0.090 PhD-SNP: F[P]=12% F[L]=1% Nali=154 P488L Neutral 8 0.077 PANTHER: F[P]=5% F[L]=3% P488L Neutral 9 0.044 SNPs&GO P488S Neutral 9 0.063 PhD-SNP: F[P]=12% F[S]=5% Nali=154 P488S Neutral 8 0.105 PANTHER: F[P]=5% F[S]=13% P488S Neutral 9 0.041 SNPs&GO T490A Neutral 7 0.155 PhD-SNP: F[T]=30% F[A]=2% Nali=157 T490A Neutral 8 0.106 PANTHER: F[T]=22% F[A]=9% T490A Neutral 8 0.078 SNPs&GO T490K Neutral 5 0.266 PhD-SNP: F[T]=30% F[K]=10% Nali=157 T490K Neutral 6 0.213 PANTHER: F[T]=22% F[K]=3% T490K Neutral 7 0.155 SNPs&GO L491F Neutral 2 0.400 PhD-SNP: F[L]=10% F[F]=2% Nali=162 L491F Neutral 7 0.164 PANTHER: F[L]=28% F[F]=6% L491F Neutral 8 0.106 SNPs&GO S492C Neutral 3 0.338 PhD-SNP: F[S]=32% F[C]=2% Nali=162 S492C Neutral 0 0.500 PANTHER: F[S]=34% F[C]=1% S492C Neutral 6 0.217 SNPs&GO S492N Neutral 6 0.193 PhD-SNP: F[S]=32% F[N]=10% Nali=162 S492N Neutral 4 0.306 PANTHER: F[S]=34% F[N]=3% S492N Neutral 6 0.194 SNPs&GO V497A Neutral 7 0.132 PhD-SNP: F[V]=43% F[A]=34% Nali=165 V497A Disease 4 0.695 PANTHER: F[V]=71% F[A]=2% V497A Neutral 5 0.266 SNPs&GO V497M Neutral 4 0.278 PhD-SNP: F[V]=43% F[M]=8% Nali=165 V497M Disease 6 0.807 PANTHER: F[V]=71% F[M]=1% V497M Neutral 1 0.468 SNPs&GO M498L Neutral 5 0.250 PhD-SNP: F[M]=7% F[L]=86% Nali=165 M498L Neutral 8 0.087 PANTHER: F[M]=22% F[L]=38% M498L Neutral 8 0.105 SNPs&GO M498T Neutral 2 0.386 PhD-SNP: F[M]=7% F[T]=0% Nali=165 M498T Neutral 4 0.305 PANTHER: F[M]=22% F[T]=2% M498T Neutral 3 0.339 SNPs&GO M498V Neutral 2 0.419 PhD-SNP: F[M]=7% F[V]=1% Nali=165 M498V Neutral 7 0.128 PANTHER: F[M]=22% F[V]=7% M498V Neutral 6 0.188 SNPs&GO S499N Neutral 6 0.218 PhD-SNP: F[S]=61% F[N]=34% Nali=165 S499N Disease 8 0.888 PANTHER: F[S]=82% F[N]=1% S499N Neutral 1 0.469 SNPs&GO S499R Disease 5 0.762 PhD-SNP: F[S]=61% F[R]=2% Nali=165 S499R Disease 8 0.919 PANTHER: F[S]=82% F[R]=0% S499R Disease 7 0.847 SNPs&GO S504L Disease 5 0.730 PhD-SNP: F[S]=59% F[L]=2% Nali=166 S504L Disease 8 0.918 PANTHER: F[S]=82% F[L]=0% S504L Disease 7 0.841 SNPs&GO V506A Neutral 1 0.426 PhD-SNP: F[V]=40% F[A]=8% Nali=167 V506A Neutral 9 0.067 PANTHER: F[V]=28% F[A]=22% V506A Neutral 7 0.156 SNPs&GO V506I Neutral 3 0.367 PhD-SNP: F[V]=40% F[I]=1% Nali=167 V506I Neutral 7 0.142 PANTHER: F[V]=28% F[I]=8% V506I Neutral 7 0.167 SNPs&GO G507R Disease 3 0.633 PhD-SNP: F[G]=42% F[R]=4% Nali=167 G507R Disease 4 0.688 PANTHER: F[G]=73% F[R]=1% G507R Disease 3 0.652 SNPs&GO G507V Disease 3 0.637 PhD-SNP: F[G]=42% F[V]=0% Nali=167 G507V Disease 3 0.659 PANTHER: F[G]=73% F[V]=1% G507V Disease 4 0.697 SNPs&GO R508C Disease 7 0.860 PhD-SNP: F[R]=85% F[C]=0% Nali=168 R508C Disease 9 0.954 PANTHER: F[R]=82% F[C]=0% R508C Disease 8 0.875 SNPs&GO R508H Disease 6 0.795 PhD-SNP: F[R]=85% F[H]=1% Nali=168 R508H Disease 8 0.891 PANTHER: F[R]=82% F[H]=0% R508H Disease 7 0.839 SNPs&GO R508S Disease 6 0.779 PhD-SNP: F[R]=85% F[S]=1% Nali=168 R508S Disease 7 0.844 PANTHER: F[R]=82% F[S]=1% R508S Disease 7 0.857 SNPs&GO D513H Disease 1 0.527 PhD-SNP: F[D]=39% F[H]=0% Nali=168 D513H Neutral 3 0.326 PANTHER: F[D]=20% F[H]=1% D513H Neutral 6 0.187 SNPs&GO D513V Disease 2 0.622 PhD-SNP: F[D]=39% F[V]=0% Nali=168 D513V Neutral 3 0.373 PANTHER: F[D]=20% F[V]=1% D513V Neutral 2 0.387 SNPs&GO H516Y Neutral 8 0.118 PhD-SNP: F[H]=11% F[Y]=0% Nali=169 H516Y Neutral 7 0.159 PANTHER: F[H]=6% F[Y]=1% H516Y Neutral 9 0.065 SNPs&GO M517L Neutral 3 0.329 PhD-SNP: F[M]=42% F[L]=0% Nali=169 M517L Neutral 7 0.152 PANTHER: F[M]=46% F[L]=13% M517L Neutral 7 0.146 SNPs&GO M517R Disease 2 0.611 PhD-SNP: F[M]=42% F[R]=0% Nali=169 M517R Disease 1 0.528 PANTHER: F[M]=46% F[R]=1% M517R Disease 1 0.564 SNPs&GO M517V Neutral 4 0.323 PhD-SNP: F[M]=42% F[V]=0% Nali=169 M517V Neutral 5 0.255 PANTHER: F[M]=46% F[V]=6% M517V Neutral 5 0.241 SNPs&GO E520Q Neutral 7 0.132 PhD-SNP: F[E]=44% F[Q]=20% Nali=168 E520Q Neutral 5 0.240 PANTHER: F[E]=28% F[Q]=4% E520Q Neutral 9 0.071 SNPs&GO T523S Neutral 8 0.112 PhD-SNP: F[T]=10% F[S]=2% Nali=160 T523S Neutral 6 0.190 PANTHER: F[T]=19% F[S]=4% T523S Neutral 8 0.084 SNPs&GO S526C Neutral 3 0.334 PhD-SNP: F[S]=27% F[C]=4% Nali=161 S526C Neutral 0 0.494 PANTHER: F[S]=29% F[C]=1% S526C Neutral 5 0.225 SNPs&GO S526Y Neutral 1 0.443 PhD-SNP: F[S]=27% F[Y]=1% Nali=161 S526Y Disease 2 0.584 PANTHER: F[S]=29% F[Y]=0% S526Y Neutral 0 0.484 SNPs&GO S529G Neutral 5 0.268 PhD-SNP: F[S]=33% F[G]=8% Nali=163 S529G Neutral 6 0.177 PANTHER: F[S]=16% F[G]=3% S529G Neutral 8 0.090 SNPs&GO S529N Neutral 5 0.247 PhD-SNP: F[S]=33% F[N]=13% Nali=163 S529N Neutral 8 0.089 PANTHER: F[S]=16% F[N]=28% S529N Neutral 9 0.056 SNPs&GO S529R Neutral 2 0.393 PhD-SNP: F[S]=33% F[R]=10% Nali=163 S529R Neutral 6 0.197 PANTHER: F[S]=16% F[R]=3% S529R Neutral 6 0.185 SNPs&GO D530V Disease 2 0.607 PhD-SNP: F[D]=45% F[V]=0% Nali=163 D530V Disease 3 0.654 PANTHER: F[D]=62% F[V]=1% D530V Disease 2 0.614 SNPs&GO G531D Neutral 1 0.468 PhD-SNP: F[G]=26% F[D]=4% Nali=162 G531D Neutral 1 0.471 PANTHER: F[G]=29% F[D]=1% G531D Disease 1 0.532 SNPs&GO H532Q Neutral 8 0.117 PhD-SNP: F[H]=13% F[Q]=13% Nali=164 H532Q Neutral 9 0.060 PANTHER: F[H]=17% F[Q]=18% H532Q Neutral 9 0.045 SNPs&GO L533F Neutral 1 0.459 PhD-SNP: F[L]=24% F[F]=0% Nali=164 L533F Neutral 4 0.309 PANTHER: F[L]=31% F[F]=3% L533F Neutral 6 0.201 SNPs&GO T534N Disease 1 0.566 PhD-SNP: F[T]=25% F[N]=0% Nali=164 T534N Neutral 4 0.281 PANTHER: F[T]=25% F[N]=3% T534N Neutral 3 0.375 SNPs&GO W535R Disease 6 0.819 PhD-SNP: F[W]=92% F[R]=3% Nali=166 W535R Disease 9 0.964 PANTHER: F[W]=93% F[R]=0% W535R Disease 7 0.864 SNPs&GO W535S Disease 8 0.877 PhD-SNP: F[W]=92% F[S]=0% Nali=166 W535S Disease 9 0.966 PANTHER: F[W]=93% F[S]=0% W535S Disease 8 0.908 SNPs&GO A536T Neutral 6 0.182 PhD-SNP: F[A]=30% F[T]=17% Nali=166 A536T Neutral 6 0.209 PANTHER: F[A]=30% F[T]=5% A536T Neutral 7 0.137 SNPs&GO C539Y Disease 6 0.815 PhD-SNP: F[C]=52% F[Y]=1% Nali=165 C539Y Disease 9 0.952 PANTHER: F[C]=88% F[Y]=0% C539Y Disease 7 0.867 SNPs&GO H542Y Neutral 1 0.428 PhD-SNP: F[H]=10% F[Y]=1% Nali=164 H542Y Neutral 5 0.231 PANTHER: F[H]=16% F[Y]=2% H542Y Neutral 5 0.261 SNPs&GO P544L Disease 4 0.675 PhD-SNP: F[P]=69% F[L]=2% Nali=168 P544L Disease 4 0.678 PANTHER: F[P]=74% F[L]=1% P544L Disease 4 0.695 SNPs&GO S547L Disease 0 0.524 PhD-SNP: F[S]=19% F[L]=0% Nali=164 S547L Neutral 2 0.378 PANTHER: F[S]=34% F[L]=2% S547L Neutral 0 0.478 SNPs&GO S547P Disease 4 0.715 PhD-SNP: F[S]=19% F[P]=7% Nali=164 S547P Neutral 1 0.438 PANTHER: F[S]=34% F[P]=2% S547P Disease 3 0.651 SNPs&GO F550L Disease 7 0.832 PhD-SNP: F[F]=96% F[L]=2% Nali=169 F550L Disease 6 0.815 PANTHER: F[F]=86% F[L]=2% F550L Disease 8 0.881 SNPs&GO T552S Neutral 5 0.246 PhD-SNP: F[T]=16% F[S]=1% Nali=169 T552S Neutral 6 0.183 PANTHER: F[T]=19% F[S]=4% T552S Neutral 7 0.150 SNPs&GO L554F Neutral 9 0.074 PhD-SNP: F[L]=32% F[F]=49% Nali=171 L554F Neutral 0 0.486 PANTHER: F[L]=64% F[F]=3% L554F Neutral 8 0.081 SNPs&GO A556G Neutral 7 0.137 PhD-SNP: F[A]=25% F[G]=41% Nali=169 A556G Neutral 4 0.283 PANTHER: F[A]=32% F[G]=4% A556G Neutral 7 0.148 SNPs&GO L560I Disease 0 0.517 PhD-SNP: F[L]=75% F[I]=1% Nali=169 L560I Disease 5 0.740 PANTHER: F[L]=84% F[I]=3% L560I Disease 2 0.581 SNPs&GO K563I Disease 2 0.587 PhD-SNP: F[K]=55% F[I]=0% Nali=169 K563I Disease 4 0.687 PANTHER: F[K]=60% F[I]=1% K563I Disease 2 0.610 SNPs&GO I565V Neutral 1 0.470 PhD-SNP: F[I]=16% F[V]=2% Nali=169 I565V Neutral 7 0.133 PANTHER: F[I]=30% F[V]=12% I565V Neutral 6 0.217 SNPs&GO L566I Neutral 1 0.428 PhD-SNP: F[L]=39% F[I]=1% Nali=169 L566I Disease 3 0.631 PANTHER: F[L]=79% F[I]=4% L566I Neutral 1 0.474 SNPs&GO L566R Disease 4 0.680 PhD-SNP: F[L]=39% F[R]=14% Nali=169 L566R Disease 8 0.918 PANTHER: F[L]=79% F[R]=0% L566R Disease 6 0.782 SNPs&GO P567S Neutral 7 0.162 PhD-SNP: F[P]=28% F[S]=12% Nali=169 P567S Disease 2 0.593 PANTHER: F[P]=76% F[S]=2% P567S Neutral 2 0.387 SNPs&GO I570T Neutral 1 0.470 PhD-SNP: F[I]=12% F[T]=4% Nali=170 I570T Disease 0 0.524 PANTHER: F[I]=54% F[T]=2% I570T Disease 3 0.626 SNPs&GO G572E Disease 8 0.922 PhD-SNP: F[G]=84% F[E]=0% Nali=170 G572E Disease 9 0.955 PANTHER: F[G]=93% F[E]=0% G572E Disease 8 0.910 SNPs&GO Y573C Neutral 4 0.314 PhD-SNP: F[Y]=22% F[C]=17% Nali=168 Y573C Neutral 8 0.079 PANTHER: F[Y]=26% F[C]=20% Y573C Neutral 8 0.107 SNPs&GO M575I Disease 0 0.517 PhD-SNP: F[M]=55% F[I]=10% Nali=169 M575I Neutral 4 0.307 PANTHER: F[M]=51% F[I]=6% M575I Neutral 1 0.457 SNPs&GO E581K Neutral 3 0.352 PhD-SNP: F[E]=33% F[K]=9% Nali=170 E581K Neutral 1 0.458 PANTHER: F[E]=62% F[K]=3% E581K Neutral 1 0.446 SNPs&GO R584L Neutral 3 0.343 PhD-SNP: F[R]=41% F[L]=1% Nali=170 R584L Disease 2 0.605 PANTHER: F[R]=65% F[L]=1% R584L Neutral 1 0.430 SNPs&GO R584Q Neutral 7 0.163 PhD-SNP: F[R]=41% F[Q]=7% Nali=170 R584Q Disease 0 0.517 PANTHER: F[R]=65% F[Q]=2% R584Q Neutral 6 0.214 SNPs&GO R584W Neutral 4 0.324 PhD-SNP: F[R]=41% F[W]=0% Nali=170 R584W Disease 8 0.889 PANTHER: F[R]=65% F[W]=0% R584W Neutral 3 0.343 SNPs&GO L586V Neutral 3 0.352 PhD-SNP: F[L]=66% F[V]=0% Nali=170 L586V Neutral 1 0.469 PANTHER: F[L]=70% F[V]=4% L586V Neutral 3 0.362 SNPs&GO M591I Neutral 8 0.082 PhD-SNP: F[M]=9% F[I]=6% Nali=170 M591I Neutral 6 0.202 PANTHER: F[M]=16% F[I]=3% M591I Neutral 9 0.059 SNPs&GO M591K Neutral 4 0.319 PhD-SNP: F[M]=9% F[K]=1% Nali=170 M591K Neutral 7 0.142 PANTHER: F[M]=16% F[K]=6% M591K Neutral 7 0.157 SNPs&GO P592A Neutral 7 0.143 PhD-SNP: F[P]=42% F[A]=0% Nali=169 P592A Disease 7 0.848 PANTHER: F[P]=90% F[A]=1% P592A Neutral 2 0.403 SNPs&GO T594N Disease 4 0.715 PhD-SNP: F[T]=95% F[N]=0% Nali=169 T594N Disease 8 0.913 PANTHER: F[T]=84% F[N]=0% T594N Disease 6 0.789 SNPs&GO L597S Disease 4 0.691 PhD-SNP: F[L]=94% F[S]=0% Nali=170 L597S Disease 9 0.943 PANTHER: F[L]=84% F[S]=0% L597S Disease 6 0.794 SNPs&GO S602G Disease 5 0.747 PhD-SNP: F[S]=88% F[G]=1% Nali=167 S602G Disease 4 0.719 PANTHER: F[S]=76% F[G]=2% S602G Disease 5 0.758 SNPs&GO S602R Disease 8 0.897 PhD-SNP: F[S]=88% F[R]=1% Nali=167 S602R Disease 7 0.859 PANTHER: F[S]=76% F[R]=0% S602R Disease 8 0.907 SNPs&GO G605R Disease 8 0.924 PhD-SNP: F[G]=98% F[R]=0% Nali=167 G605R Disease 9 0.962 PANTHER: F[G]=93% F[R]=0% G605R Disease 8 0.910 SNPs&GO T608S Neutral 0 0.496 PhD-SNP: F[T]=92% F[S]=7% Nali=166 T608S Disease 6 0.797 PANTHER: F[T]=84% F[S]=2% T608S Disease 3 0.667 SNPs&GO E616A Neutral 3 0.367 PhD-SNP: F[E]=24% F[A]=2% Nali=159 E616A Neutral 0 0.499 PANTHER: F[E]=62% F[A]=2% E616A Neutral 2 0.406 SNPs&GO S617T Neutral 6 0.178 PhD-SNP: F[S]=18% F[T]=4% Nali=163 S617T Neutral 8 0.093 PANTHER: F[S]=11% F[T]=6% S617T Neutral 9 0.064 SNPs&GO G618A Disease 0 0.516 PhD-SNP: F[G]=66% F[A]=1% Nali=162 G618A Disease 0 0.521 PANTHER: F[G]=77% F[A]=3% G618A Neutral 1 0.460 SNPs&GO G618E Disease 3 0.671 PhD-SNP: F[G]=66% F[E]=1% Nali=162 G618E Disease 4 0.683 PANTHER: F[G]=77% F[E]=1% G618E Disease 4 0.708 SNPs&GO E619D Neutral 2 0.387 PhD-SNP: F[E]=45% F[D]=8% Nali=164 E619D Neutral 9 0.065 PANTHER: F[E]=30% F[D]=28% E619D Neutral 8 0.092 SNPs&GO V620A Neutral 2 0.407 PhD-SNP: F[V]=33% F[A]=2% Nali=162 V620A Neutral 6 0.197 PANTHER: F[V]=27% F[A]=6% V620A Neutral 5 0.257 SNPs&GO V625I Neutral 8 0.114 PhD-SNP: F[V]=54% F[I]=16% Nali=159 V625I Neutral 1 0.463 PANTHER: F[V]=72% F[I]=8% V625I Neutral 7 0.132 SNPs&GO E626Q Neutral 8 0.117 PhD-SNP: F[E]=40% F[Q]=41% Nali=159 E626Q Disease 6 0.803 PANTHER: F[E]=79% F[Q]=1% E626Q Neutral 5 0.262 SNPs&GO Y628H Disease 3 0.650 PhD-SNP: F[Y]=50% F[H]=1% Nali=162 Y628H Disease 7 0.845 PANTHER: F[Y]=81% F[H]=1% Y628H Disease 4 0.684 SNPs&GO R632Q Neutral 5 0.237 PhD-SNP: F[R]=19% F[Q]=7% Nali=161 R632Q Disease 0 0.517 PANTHER: F[R]=65% F[Q]=2% R632Q Neutral 3 0.366 SNPs&GO R632W Neutral 0 0.477 PhD-SNP: F[R]=19% F[W]=0% Nali=161 R632W Disease 8 0.889 PANTHER: F[R]=65% F[W]=0% R632W Disease 2 0.587 SNPs&GO F638L Neutral 5 0.257 PhD-SNP: F[F]=34% F[L]=61% Nali=157 F638L Neutral 8 0.091 PANTHER: F[F]=23% F[L]=14% F638L Neutral 7 0.142 SNPs&GO A639P Disease 1 0.537 PhD-SNP: F[A]=48% F[P]=20% Nali=157 A639P Disease 3 0.631 PANTHER: F[A]=61% F[P]=1% A639P Disease 1 0.553 SNPs&GO A639S Neutral 0 0.495 PhD-SNP: F[A]=48% F[S]=5% Nali=157 A639S Neutral 3 0.362 PANTHER: F[A]=61% F[S]=5% A639S Neutral 2 0.420 SNPs&GO A639T Neutral 4 0.309 PhD-SNP: F[A]=48% F[T]=12% Nali=157 A639T Neutral 1 0.429 PANTHER: F[A]=61% F[T]=4% A639T Neutral 4 0.321 SNPs&GO L642P Disease 8 0.906 PhD-SNP: F[L]=26% F[P]=0% Nali=158 L642P Disease 4 0.718 PANTHER: F[L]=36% F[P]=0% L642P Disease 7 0.861 SNPs&GO R643Q Disease 3 0.634 PhD-SNP: F[R]=64% F[Q]=0% Nali=157 R643Q Disease 3 0.657 PANTHER: F[R]=73% F[Q]=2% R643Q Disease 2 0.612 SNPs&GO I648V Neutral 4 0.278 PhD-SNP: F[I]=28% F[V]=0% Nali=109 I648V Neutral 6 0.186 PANTHER: F[I]=54% F[V]=13% I648V Neutral 8 0.116 SNPs&GO M649V Neutral 4 0.282 PhD-SNP: F[M]=14% F[V]=2% Nali=111 M649V Neutral 7 0.141 PANTHER: F[M]=20% F[V]=7% M649V Neutral 7 0.147 SNPs&GO E651G Neutral 3 0.371 PhD-SNP: F[E]=58% F[G]=13% Nali=98 E651G Neutral 8 0.078 PANTHER: F[E]=29% F[G]=22% E651G Neutral 8 0.076 SNPs&GO E651K Disease 4 0.717 PhD-SNP: F[E]=58% F[K]=0% Nali=98 E651K Neutral 5 0.248 PANTHER: F[E]=29% F[K]=4% E651K Neutral 0 0.494 SNPs&GO E651V Disease 4 0.687 PhD-SNP: F[E]=58% F[V]=0% Nali=98 E651V Neutral 1 0.437 PANTHER: F[E]=29% F[V]=1% E651V Disease 0 0.508 SNPs&GO I653M Disease 3 0.630 PhD-SNP: F[I]=62% F[M]=0% Nali=101 I653M Neutral 2 0.401 PANTHER: F[I]=34% F[M]=2% I653M Neutral 3 0.348 SNPs&GO I653V Neutral 6 0.196 PhD-SNP: F[I]=62% F[V]=23% Nali=101 I653V Neutral 9 0.066 PANTHER: F[I]=34% F[V]=35% I653V Neutral 9 0.042 SNPs&GO P654T Disease 4 0.689 PhD-SNP: F[P]=81% F[T]=0% Nali=101 P654T Disease 6 0.783 PANTHER: F[P]=83% F[T]=1% P654T Disease 3 0.668 SNPs&GO P657L Disease 3 0.670 PhD-SNP: F[P]=74% F[L]=0% Nali=127 P657L Disease 9 0.961 PANTHER: F[P]=93% F[L]=0% P657L Disease 5 0.753 SNPs&GO L661V Neutral 6 0.211 PhD-SNP: F[L]=83% F[V]=13% Nali=159 L661V Disease 6 0.785 PANTHER: F[L]=84% F[V]=2% L661V Neutral 2 0.383 SNPs&GO P666A Disease 1 0.533 PhD-SNP: F[P]=82% F[A]=1% Nali=159 P666A Disease 1 0.552 PANTHER: F[P]=76% F[A]=2% P666A Neutral 1 0.467 SNPs&GO D668G Disease 5 0.774 PhD-SNP: F[D]=77% F[G]=1% Nali=160 D668G Disease 4 0.678 PANTHER: F[D]=74% F[G]=2% D668G Disease 4 0.721 SNPs&GO K669R Neutral 4 0.300 PhD-SNP: F[K]=13% F[R]=5% Nali=158 K669R Neutral 6 0.186 PANTHER: F[K]=25% F[R]=6% K669R Neutral 8 0.122 SNPs&GO G672S Neutral 6 0.204 PhD-SNP: F[G]=65% F[S]=16% Nali=156 G672S Disease 1 0.563 PANTHER: F[G]=77% F[S]=2% G672S Neutral 5 0.240 SNPs&GO K673R Neutral 7 0.152 PhD-SNP: F[K]=59% F[R]=19% Nali=152 K673R Disease 2 0.586 PANTHER: F[K]=76% F[R]=4% K673R Neutral 5 0.267 SNPs&GO S677C Neutral 5 0.274 PhD-SNP: F[S]=43% F[C]=6% Nali=109 S677C Disease 4 0.706 PANTHER: F[S]=58% F[C]=1% S677C Neutral 4 0.291 SNPs&GO S677T Neutral 6 0.184 PhD-SNP: F[S]=43% F[T]=5% Nali=109 S677T Neutral 2 0.412 PANTHER: F[S]=58% F[T]=4% S677T Neutral 7 0.155 SNPs&GO P679L Neutral 0 0.491 PhD-SNP: F[P]=72% F[L]=1% Nali=88 P679L Neutral 6 0.199 PANTHER: F[P]=27% F[L]=3% P679L Neutral 6 0.201 SNPs&GO C680G Neutral 2 0.406 PhD-SNP: F[C]=24% F[G]=3% Nali=79 C680G Neutral 6 0.188 PANTHER: F[C]=29% F[G]=4% C680G Neutral 4 0.278 SNPs&GO C680R Neutral 2 0.404 PhD-SNP: F[C]=24% F[R]=0% Nali=79 C680R Neutral 5 0.247 PANTHER: F[C]=29% F[R]=2% C680R Neutral 4 0.302 SNPs&GO E681K Neutral 3 0.334 PhD-SNP: F[E]=66% F[K]=11% Nali=86 E681K Neutral 8 0.092 PANTHER: F[E]=30% F[K]=11% E681K Neutral 7 0.148 SNPs&GO R684S Neutral 4 0.319 PhD-SNP: F[R]=22% F[S]=2% Nali=80 R684S Neutral 6 0.192 PANTHER: F[R]=32% F[S]=4% R684S Neutral 5 0.241 SNPs&GO R684T Neutral 4 0.307 PhD-SNP: F[R]=22% F[T]=1% Nali=80 R684T Neutral 6 0.217 PANTHER: F[R]=32% F[T]=3% R684T Neutral 6 0.188 SNPs&GO P685A Neutral 4 0.304 PhD-SNP: F[P]=73% F[A]=5% Nali=78 P685A Neutral 7 0.134 PANTHER: F[P]=27% F[A]=6% P685A Neutral 8 0.106 SNPs&GO T686A Neutral 6 0.188 PhD-SNP: F[T]=38% F[A]=1% Nali=79 T686A Neutral 8 0.110 PANTHER: F[T]=29% F[A]=8% T686A Neutral 8 0.103 SNPs&GO T686K Neutral 5 0.255 PhD-SNP: F[T]=38% F[K]=4% Nali=79 T686K Neutral 7 0.158 PANTHER: F[T]=29% F[K]=5% T686K Neutral 7 0.130 SNPs&GO R688G Neutral 4 0.285 PhD-SNP: F[R]=18% F[G]=9% Nali=78 R688G Neutral 4 0.281 PANTHER: F[R]=31% F[G]=2% R688G Neutral 6 0.215 SNPs&GO R688K Neutral 8 0.076 PhD-SNP: F[R]=18% F[K]=19% Nali=78 R688K Neutral 8 0.082 PANTHER: F[R]=31% F[K]=13% R688K Neutral 9 0.060 SNPs&GO R688S Neutral 5 0.229 PhD-SNP: F[R]=18% F[S]=9% Nali=78 R688S Neutral 6 0.187 PANTHER: F[R]=31% F[S]=4% R688S Neutral 7 0.175 SNPs&GO G689D Disease 0 0.522 PhD-SNP: F[G]=44% F[D]=6% Nali=78 G689D Neutral 5 0.260 PANTHER: F[G]=33% F[D]=2% G689D Neutral 4 0.314 SNPs&GO G689S Neutral 4 0.303 PhD-SNP: F[G]=44% F[S]=8% Nali=78 G689S Neutral 7 0.133 PANTHER: F[G]=33% F[S]=7% G689S Neutral 7 0.130 SNPs&GO D690A Neutral 2 0.397 PhD-SNP: F[D]=32% F[A]=6% Nali=81 D690A Neutral 6 0.183 PANTHER: F[D]=35% F[A]=5% D690A Neutral 6 0.196 SNPs&GO D690G Neutral 1 0.468 PhD-SNP: F[D]=32% F[G]=5% Nali=81 D690G Neutral 5 0.230 PANTHER: F[D]=35% F[G]=3% D690G Neutral 6 0.216 SNPs&GO D690H Neutral 2 0.406 PhD-SNP: F[D]=32% F[H]=0% Nali=81 D690H Neutral 3 0.346 PANTHER: F[D]=35% F[H]=2% D690H Neutral 6 0.195 SNPs&GO D690N Neutral 7 0.168 PhD-SNP: F[D]=32% F[N]=17% Nali=81 D690N Neutral 7 0.171 PANTHER: F[D]=35% F[N]=5% D690N Neutral 8 0.094 SNPs&GO G692S Disease 5 0.733 PhD-SNP: F[G]=76% F[S]=1% Nali=95 G692S Neutral 7 0.156 PANTHER: F[G]=33% F[S]=6% G692S Neutral 2 0.419 SNPs&GO V697F Neutral 0 0.489 PhD-SNP: F[V]=25% F[F]=0% Nali=87 V697F Neutral 4 0.281 PANTHER: F[V]=30% F[F]=2% V697F Neutral 4 0.290 SNPs&GO R705Q Neutral 9 0.063 PhD-SNP: F[R]=12% F[Q]=7% Nali=73 R705Q Neutral 5 0.231 PANTHER: F[R]=46% F[Q]=4% R705Q Neutral 9 0.074 SNPs&GO D707E Neutral 7 0.143 PhD-SNP: F[D]=25% F[E]=0% Nali=72 D707E Neutral 7 0.141 PANTHER: F[D]=48% F[E]=8% D707E Neutral 9 0.070 SNPs&GO D707G Neutral 5 0.253 PhD-SNP: F[D]=25% F[G]=3% Nali=72 D707G Neutral 5 0.266 PANTHER: F[D]=48% F[G]=3% D707G Neutral 7 0.174 SNPs&GO T709A Neutral 9 0.053 PhD-SNP: F[T]=36% F[A]=14% Nali=72 T709A Neutral 8 0.095 PANTHER: F[T]=25% F[A]=7% T709A Neutral 9 0.035 SNPs&GO T709I Neutral 7 0.161 PhD-SNP: F[T]=36% F[I]=0% Nali=72 T709I Neutral 8 0.107 PANTHER: F[T]=25% F[I]=6% T709I Neutral 9 0.046 SNPs&GO T709K Neutral 6 0.191 PhD-SNP: F[T]=36% F[K]=0% Nali=72 T709K Neutral 7 0.140 PANTHER: F[T]=25% F[K]=4% T709K Neutral 8 0.106 SNPs&GO E710G Neutral 8 0.080 PhD-SNP: F[E]=13% F[G]=3% Nali=71 E710G Neutral 8 0.108 PANTHER: F[E]=12% F[G]=3% E710G Neutral 9 0.036 SNPs&GO P711L Neutral 7 0.144 PhD-SNP: F[P]=53% F[L]=4% Nali=54 P711L Unclassified NA NA PANTHER: F[P]=NA F[L]=NA P711L Neutral 9 0.060 SNPs&GO P711S Neutral 8 0.085 PhD-SNP: F[P]=53% F[S]=13% Nali=54 P711S Unclassified NA NA PANTHER: F[P]=NA F[S]=NA P711S Neutral 9 0.033 SNPs&GO H712R Neutral 9 0.073 PhD-SNP: F[H]=27% F[R]=0% Nali=50 H712R Unclassified NA NA PANTHER: F[H]=NA F[R]=NA H712R Neutral 9 0.042 SNPs&GO H712Y Neutral 9 0.057 PhD-SNP: F[H]=27% F[Y]=4% Nali=50 H712Y Unclassified NA NA PANTHER: F[H]=NA F[Y]=NA H712Y Neutral 9 0.036 SNPs&GO S715L Neutral 8 0.119 PhD-SNP: F[S]=48% F[L]=0% Nali=63 S715L Neutral 5 0.268 PANTHER: F[S]=41% F[L]=3% S715L Neutral 8 0.080 SNPs&GO D716E Neutral 8 0.102 PhD-SNP: F[D]=39% F[E]=6% Nali=61 D716E Neutral 7 0.141 PANTHER: F[D]=48% F[E]=8% D716E Neutral 9 0.049 SNPs&GO A726V Neutral 6 0.187 PhD-SNP: F[A]=23% F[V]=0% Nali=46 A726V Neutral 6 0.198 PANTHER: F[A]=44% F[V]=5% A726V Neutral 8 0.103 SNPs&GO E730Q Neutral 8 0.122 PhD-SNP: F[E]=36% F[Q]=18% Nali=38 E730Q Neutral 5 0.229 PANTHER: F[E]=43% F[Q]=4% E730Q Neutral 8 0.081 SNPs&GO T735A Neutral 9 0.066 PhD-SNP: F[T]=33% F[A]=17% Nali=29 T735A Neutral 7 0.125 PANTHER: F[T]=38% F[A]=8% T735A Neutral 9 0.052 SNPs&GO T736A Neutral 7 0.137 PhD-SNP: F[T]=28% F[A]=7% Nali=28 T736A Unclassified NA NA PANTHER: F[T]=NA F[A]=NA T736A Neutral 8 0.095 SNPs&GO T736I Neutral 4 0.276 PhD-SNP: F[T]=28% F[I]=0% Nali=28 T736I Unclassified NA NA PANTHER: F[T]=NA F[I]=NA T736I Neutral 6 0.196 SNPs&GO E738A Neutral 4 0.288 PhD-SNP: F[E]=48% F[A]=0% Nali=26 E738A Unclassified NA NA PANTHER: F[E]=NA F[A]=NA E738A Neutral 8 0.094 SNPs&GO E738Q Neutral 3 0.360 PhD-SNP: F[E]=48% F[Q]=0% Nali=26 E738Q Unclassified NA NA PANTHER: F[E]=NA F[Q]=NA E738Q Neutral 7 0.144 SNPs&GO A740V Neutral 9 0.054 PhD-SNP: F[A]=48% F[V]=35% Nali=22 A740V Unclassified NA NA PANTHER: F[A]=NA F[V]=NA A740V Neutral 10 0.021 SNPs&GO P744H Neutral 5 0.233 PhD-SNP: F[P]=78% F[H]=0% Nali=17 P744H Unclassified NA NA PANTHER: F[P]=NA F[H]=NA P744H Neutral 8 0.087 SNPs&GO P744R Neutral 5 0.267 PhD-SNP: F[P]=78% F[R]=0% Nali=17 P744R Unclassified NA NA PANTHER: F[P]=NA F[R]=NA P744R Neutral 7 0.148 SNPs&GO P744S Neutral 6 0.223 PhD-SNP: F[P]=78% F[S]=0% Nali=17 P744S Unclassified NA NA PANTHER: F[P]=NA F[S]=NA P744S Neutral 8 0.124 SNPs&GO A747V Neutral 8 0.087 PhD-SNP: F[A]=73% F[V]=0% Nali=10 A747V Unclassified NA NA PANTHER: F[A]=NA F[V]=NA A747V Neutral 9 0.065 SNPs&GO Mutation: WT+POS+NEW WT: Residue in wild-type protein POS: Residue position NEW: New residue after mutation Prediction: Neutral: Neutral variation Disease: Disease associated variation RI: Reliability Index Probability: Disease probability (if >0.5 mutation is predicted Disease) Method: SVM type and data PANTHER: Output of the PANTHER algorithm PhD-SNP: SVM input is the sequence and profile at the mutated position SNPs&GO: SVM input is all the input in PhD-SNP, PANTHER and GO term features F[X]: Frequency of residue X in the sequence profile Nali: Number of aligned sequences in the mutated site ********************************************************************************************** ** ** ** Calabrese R, Capriotti E, Fariselli P, Martelli PL, Casadio R. (2009). Functional ** ** annotations improve the predictive score of human disease-related mutations in ** ** proteins. Human Mutation. 30:1237-1244. ** ** ** ** Capriotti E, Altman RB. (2011). Improving the prediction of disease-related vari- ** ** ants using protein three-dimensional structure. BMC Bioinformatics. 12 (Sup.4) S3. ** ** ** **********************************************************************************************