Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.208326183_208326209delCA2754053494PIKFYVEc.3372_3398del (p.Ile1125_Leu1133del)
c.3204_3230del (p.Ile1069_Leu1077del)
c.3408_3434del (p.Ile1137_Leu1145del)
c.3405_3431del (p.Ile1136_Leu1144del)
c.3390_3416del (p.Ile1131_Leu1139del)
c.3240_3266del (p.Ile1081_Leu1089del)
c.3237_3263del (p.Ile1080_Leu1088del)
c.3222_3248del (p.Ile1075_Leu1083del)
c.3117_3143del (p.Ile1040_Leu1048del)
c.3114_3140del (p.Ile1039_Leu1047del)
c.3081_3107del (p.Ile1028_Leu1036del)
c.2931_2957del (p.Ile978_Leu986del)
c.2415_2441del (p.Ile806_Leu814del)
n.3545_3571del
c.3354_3380del (p.Ile1119_Leu1127del)
c.3186_3212del (p.Ile1063_Leu1071del)
c.2913_2939del (p.Ile972_Leu980del)
c.2763_2789del (p.Ile922_Leu930del)
2g.208326198C>ACA431117638PIKFYVEc.3387C>A (p.Pro1129=)
c.3219C>A (p.Pro1073=)
c.3423C>A (p.Pro1141=)
c.3420C>A (p.Pro1140=)
c.3405C>A (p.Pro1135=)
c.3255C>A (p.Pro1085=)
c.3252C>A (p.Pro1084=)
c.3237C>A (p.Pro1079=)
c.3132C>A (p.Pro1044=)
c.3129C>A (p.Pro1043=)
c.3096C>A (p.Pro1032=)
c.2946C>A (p.Pro982=)
c.2430C>A (p.Pro810=)
n.3560C>A
c.3369C>A (p.Pro1123=)
c.3201C>A (p.Pro1067=)
c.2928C>A (p.Pro976=)
c.2778C>A (p.Pro926=)
2g.208326198C=CA1324023414PIKFYVEc.3387C= (p.Pro1129=)
c.3219C= (p.Pro1073=)
c.3423C= (p.Pro1141=)
c.3420C= (p.Pro1140=)
c.3405C= (p.Pro1135=)
c.3255C= (p.Pro1085=)
c.3252C= (p.Pro1084=)
c.3237C= (p.Pro1079=)
c.3132C= (p.Pro1044=)
c.3129C= (p.Pro1043=)
c.3096C= (p.Pro1032=)
c.2946C= (p.Pro982=)
c.2430C= (p.Pro810=)
n.3560C=
c.3369C= (p.Pro1123=)
c.3201C= (p.Pro1067=)
c.2928C= (p.Pro976=)
c.2778C= (p.Pro926=)
2g.208326198C>GCA431117639PIKFYVEc.3387C>G (p.Pro1129=)
c.3219C>G (p.Pro1073=)
c.3423C>G (p.Pro1141=)
c.3420C>G (p.Pro1140=)
c.3405C>G (p.Pro1135=)
c.3255C>G (p.Pro1085=)
c.3252C>G (p.Pro1084=)
c.3237C>G (p.Pro1079=)
c.3132C>G (p.Pro1044=)
c.3129C>G (p.Pro1043=)
c.3096C>G (p.Pro1032=)
c.2946C>G (p.Pro982=)
c.2430C>G (p.Pro810=)
n.3560C>G
c.3369C>G (p.Pro1123=)
c.3201C>G (p.Pro1067=)
c.2928C>G (p.Pro976=)
c.2778C>G (p.Pro926=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.208326198C>TCA2080028PIKFYVEc.3387C>T (p.Pro1129=)
c.3219C>T (p.Pro1073=)
c.3423C>T (p.Pro1141=)
c.3420C>T (p.Pro1140=)
c.3405C>T (p.Pro1135=)
c.3255C>T (p.Pro1085=)
c.3252C>T (p.Pro1084=)
c.3237C>T (p.Pro1079=)
c.3132C>T (p.Pro1044=)
c.3129C>T (p.Pro1043=)
c.3096C>T (p.Pro1032=)
c.2946C>T (p.Pro982=)
c.2430C>T (p.Pro810=)
n.3560C>T
c.3369C>T (p.Pro1123=)
c.3201C>T (p.Pro1067=)
c.2928C>T (p.Pro976=)
c.2778C>T (p.Pro926=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.208326199T>ACA350115430PIKFYVEc.3388T>A (p.Ser1130Thr)
c.3220T>A (p.Ser1074Thr)
c.3424T>A (p.Ser1142Thr)
c.3421T>A (p.Ser1141Thr)
c.3406T>A (p.Ser1136Thr)
c.3256T>A (p.Ser1086Thr)
c.3253T>A (p.Ser1085Thr)
c.3238T>A (p.Ser1080Thr)
c.3133T>A (p.Ser1045Thr)
c.3130T>A (p.Ser1044Thr)
c.3097T>A (p.Ser1033Thr)
c.2947T>A (p.Ser983Thr)
c.2431T>A (p.Ser811Thr)
n.3561T>A
c.3370T>A (p.Ser1124Thr)
c.3202T>A (p.Ser1068Thr)
c.2929T>A (p.Ser977Thr)
c.2779T>A (p.Ser927Thr)
2g.208326199T>CCA350115429PIKFYVEc.3388T>C (p.Ser1130Pro)
c.3220T>C (p.Ser1074Pro)
c.3424T>C (p.Ser1142Pro)
c.3421T>C (p.Ser1141Pro)
c.3406T>C (p.Ser1136Pro)
c.3256T>C (p.Ser1086Pro)
c.3253T>C (p.Ser1085Pro)
c.3238T>C (p.Ser1080Pro)
c.3133T>C (p.Ser1045Pro)
c.3130T>C (p.Ser1044Pro)
c.3097T>C (p.Ser1033Pro)
c.2947T>C (p.Ser983Pro)
c.2431T>C (p.Ser811Pro)
n.3561T>C
c.3370T>C (p.Ser1124Pro)
c.3202T>C (p.Ser1068Pro)
c.2929T>C (p.Ser977Pro)
c.2779T>C (p.Ser927Pro)
2g.208326199T>GCA350115431PIKFYVEc.3388T>G (p.Ser1130Ala)
c.3220T>G (p.Ser1074Ala)
c.3424T>G (p.Ser1142Ala)
c.3421T>G (p.Ser1141Ala)
c.3406T>G (p.Ser1136Ala)
c.3256T>G (p.Ser1086Ala)
c.3253T>G (p.Ser1085Ala)
c.3238T>G (p.Ser1080Ala)
c.3133T>G (p.Ser1045Ala)
c.3130T>G (p.Ser1044Ala)
c.3097T>G (p.Ser1033Ala)
c.2947T>G (p.Ser983Ala)
c.2431T>G (p.Ser811Ala)
n.3561T>G
c.3370T>G (p.Ser1124Ala)
c.3202T>G (p.Ser1068Ala)
c.2929T>G (p.Ser977Ala)
c.2779T>G (p.Ser927Ala)
2g.208326200C>ACA350115432PIKFYVEc.3389C>A (p.Ser1130Ter)
c.3221C>A (p.Ser1074Ter)
c.3425C>A (p.Ser1142Ter)
c.3422C>A (p.Ser1141Ter)
c.3407C>A (p.Ser1136Ter)
c.3257C>A (p.Ser1086Ter)
c.3254C>A (p.Ser1085Ter)
c.3239C>A (p.Ser1080Ter)
c.3134C>A (p.Ser1045Ter)
c.3131C>A (p.Ser1044Ter)
c.3098C>A (p.Ser1033Ter)
c.2948C>A (p.Ser983Ter)
c.2432C>A (p.Ser811Ter)
n.3562C>A
c.3371C>A (p.Ser1124Ter)
c.3203C>A (p.Ser1068Ter)
c.2930C>A (p.Ser977Ter)
c.2780C>A (p.Ser927Ter)
2g.208326200C>GCA350115434PIKFYVEc.3389C>G (p.Ser1130Ter)
c.3221C>G (p.Ser1074Ter)
c.3425C>G (p.Ser1142Ter)
c.3422C>G (p.Ser1141Ter)
c.3407C>G (p.Ser1136Ter)
c.3257C>G (p.Ser1086Ter)
c.3254C>G (p.Ser1085Ter)
c.3239C>G (p.Ser1080Ter)
c.3134C>G (p.Ser1045Ter)
c.3131C>G (p.Ser1044Ter)
c.3098C>G (p.Ser1033Ter)
c.2948C>G (p.Ser983Ter)
c.2432C>G (p.Ser811Ter)
n.3562C>G
c.3371C>G (p.Ser1124Ter)
c.3203C>G (p.Ser1068Ter)
c.2930C>G (p.Ser977Ter)
c.2780C>G (p.Ser927Ter)
2g.208326200C>TCA350115433PIKFYVEc.3389C>T (p.Ser1130Leu)
c.3221C>T (p.Ser1074Leu)
c.3425C>T (p.Ser1142Leu)
c.3422C>T (p.Ser1141Leu)
c.3407C>T (p.Ser1136Leu)
c.3257C>T (p.Ser1086Leu)
c.3254C>T (p.Ser1085Leu)
c.3239C>T (p.Ser1080Leu)
c.3134C>T (p.Ser1045Leu)
c.3131C>T (p.Ser1044Leu)
c.3098C>T (p.Ser1033Leu)
c.2948C>T (p.Ser983Leu)
c.2432C>T (p.Ser811Leu)
n.3562C>T
c.3371C>T (p.Ser1124Leu)
c.3203C>T (p.Ser1068Leu)
c.2930C>T (p.Ser977Leu)
c.2780C>T (p.Ser927Leu)
2g.208326201A>CCA431117642PIKFYVEc.3390A>C (p.Ser1130=)
c.3222A>C (p.Ser1074=)
c.3426A>C (p.Ser1142=)
c.3423A>C (p.Ser1141=)
c.3408A>C (p.Ser1136=)
c.3258A>C (p.Ser1086=)
c.3255A>C (p.Ser1085=)
c.3240A>C (p.Ser1080=)
c.3135A>C (p.Ser1045=)
c.3132A>C (p.Ser1044=)
c.3099A>C (p.Ser1033=)
c.2949A>C (p.Ser983=)
c.2433A>C (p.Ser811=)
n.3563A>C
c.3372A>C (p.Ser1124=)
c.3204A>C (p.Ser1068=)
c.2931A>C (p.Ser977=)
c.2781A>C (p.Ser927=)
2g.208326201A>GCA431117644PIKFYVEc.3390A>G (p.Ser1130=)
c.3222A>G (p.Ser1074=)
c.3426A>G (p.Ser1142=)
c.3423A>G (p.Ser1141=)
c.3408A>G (p.Ser1136=)
c.3258A>G (p.Ser1086=)
c.3255A>G (p.Ser1085=)
c.3240A>G (p.Ser1080=)
c.3135A>G (p.Ser1045=)
c.3132A>G (p.Ser1044=)
c.3099A>G (p.Ser1033=)
c.2949A>G (p.Ser983=)
c.2433A>G (p.Ser811=)
n.3563A>G
c.3372A>G (p.Ser1124=)
c.3204A>G (p.Ser1068=)
c.2931A>G (p.Ser977=)
c.2781A>G (p.Ser927=)
2g.208326201A>TCA431117646PIKFYVEc.3390A>T (p.Ser1130=)
c.3222A>T (p.Ser1074=)
c.3426A>T (p.Ser1142=)
c.3423A>T (p.Ser1141=)
c.3408A>T (p.Ser1136=)
c.3258A>T (p.Ser1086=)
c.3255A>T (p.Ser1085=)
c.3240A>T (p.Ser1080=)
c.3135A>T (p.Ser1045=)
c.3132A>T (p.Ser1044=)
c.3099A>T (p.Ser1033=)
c.2949A>T (p.Ser983=)
c.2433A>T (p.Ser811=)
n.3563A>T
c.3372A>T (p.Ser1124=)
c.3204A>T (p.Ser1068=)
c.2931A>T (p.Ser977=)
c.2781A>T (p.Ser927=)
2g.208326202C>ACA350115435PIKFYVEc.3391C>A (p.His1131Asn)
c.3223C>A (p.His1075Asn)
c.3427C>A (p.His1143Asn)
c.3424C>A (p.His1142Asn)
c.3409C>A (p.His1137Asn)
c.3259C>A (p.His1087Asn)
c.3256C>A (p.His1086Asn)
c.3241C>A (p.His1081Asn)
c.3136C>A (p.His1046Asn)
c.3133C>A (p.His1045Asn)
c.3100C>A (p.His1034Asn)
c.2950C>A (p.His984Asn)
c.2434C>A (p.His812Asn)
n.3564C>A
c.3373C>A (p.His1125Asn)
c.3205C>A (p.His1069Asn)
c.2932C>A (p.His978Asn)
c.2782C>A (p.His928Asn)
2g.208326202C>GCA350115437PIKFYVEc.3391C>G (p.His1131Asp)
c.3223C>G (p.His1075Asp)
c.3427C>G (p.His1143Asp)
c.3424C>G (p.His1142Asp)
c.3409C>G (p.His1137Asp)
c.3259C>G (p.His1087Asp)
c.3256C>G (p.His1086Asp)
c.3241C>G (p.His1081Asp)
c.3136C>G (p.His1046Asp)
c.3133C>G (p.His1045Asp)
c.3100C>G (p.His1034Asp)
c.2950C>G (p.His984Asp)
c.2434C>G (p.His812Asp)
n.3564C>G
c.3373C>G (p.His1125Asp)
c.3205C>G (p.His1069Asp)
c.2932C>G (p.His978Asp)
c.2782C>G (p.His928Asp)
2g.208326202C>TCA350115436PIKFYVEc.3391C>T (p.His1131Tyr)
c.3223C>T (p.His1075Tyr)
c.3427C>T (p.His1143Tyr)
c.3424C>T (p.His1142Tyr)
c.3409C>T (p.His1137Tyr)
c.3259C>T (p.His1087Tyr)
c.3256C>T (p.His1086Tyr)
c.3241C>T (p.His1081Tyr)
c.3136C>T (p.His1046Tyr)
c.3133C>T (p.His1045Tyr)
c.3100C>T (p.His1034Tyr)
c.2950C>T (p.His984Tyr)
c.2434C>T (p.His812Tyr)
n.3564C>T
c.3373C>T (p.His1125Tyr)
c.3205C>T (p.His1069Tyr)
c.2932C>T (p.His978Tyr)
c.2782C>T (p.His928Tyr)
2g.208326203A>CCA350115438PIKFYVEc.3392A>C (p.His1131Pro)
c.3224A>C (p.His1075Pro)
c.3428A>C (p.His1143Pro)
c.3425A>C (p.His1142Pro)
c.3410A>C (p.His1137Pro)
c.3260A>C (p.His1087Pro)
c.3257A>C (p.His1086Pro)
c.3242A>C (p.His1081Pro)
c.3137A>C (p.His1046Pro)
c.3134A>C (p.His1045Pro)
c.3101A>C (p.His1034Pro)
c.2951A>C (p.His984Pro)
c.2435A>C (p.His812Pro)
n.3565A>C
c.3374A>C (p.His1125Pro)
c.3206A>C (p.His1069Pro)
c.2933A>C (p.His978Pro)
c.2783A>C (p.His928Pro)
2g.208326203A>GCA350115440PIKFYVEc.3392A>G (p.His1131Arg)
c.3224A>G (p.His1075Arg)
c.3428A>G (p.His1143Arg)
c.3425A>G (p.His1142Arg)
c.3410A>G (p.His1137Arg)
c.3260A>G (p.His1087Arg)
c.3257A>G (p.His1086Arg)
c.3242A>G (p.His1081Arg)
c.3137A>G (p.His1046Arg)
c.3134A>G (p.His1045Arg)
c.3101A>G (p.His1034Arg)
c.2951A>G (p.His984Arg)
c.2435A>G (p.His812Arg)
n.3565A>G
c.3374A>G (p.His1125Arg)
c.3206A>G (p.His1069Arg)
c.2933A>G (p.His978Arg)
c.2783A>G (p.His928Arg)
2g.208326203A>TCA350115439PIKFYVEc.3392A>T (p.His1131Leu)
c.3224A>T (p.His1075Leu)
c.3428A>T (p.His1143Leu)
c.3425A>T (p.His1142Leu)
c.3410A>T (p.His1137Leu)
c.3260A>T (p.His1087Leu)
c.3257A>T (p.His1086Leu)
c.3242A>T (p.His1081Leu)
c.3137A>T (p.His1046Leu)
c.3134A>T (p.His1045Leu)
c.3101A>T (p.His1034Leu)
c.2951A>T (p.His984Leu)
c.2435A>T (p.His812Leu)
n.3565A>T
c.3374A>T (p.His1125Leu)
c.3206A>T (p.His1069Leu)
c.2933A>T (p.His978Leu)
c.2783A>T (p.His928Leu)
2g.208326203_208326204delCA2662880181PIKFYVEc.3392_3393del (p.His1131ArgfsTer6)
c.3224_3225del (p.His1075ArgfsTer6)
c.3428_3429del (p.His1143ArgfsTer6)
c.3425_3426del (p.His1142ArgfsTer6)
c.3410_3411del (p.His1137ArgfsTer6)
c.3260_3261del (p.His1087ArgfsTer6)
c.3257_3258del (p.His1086ArgfsTer6)
c.3242_3243del (p.His1081ArgfsTer6)
c.3137_3138del (p.His1046ArgfsTer6)
c.3134_3135del (p.His1045ArgfsTer6)
c.3101_3102del (p.His1034ArgfsTer6)
c.2951_2952del (p.His984ArgfsTer6)
c.2435_2436del (p.His812ArgfsTer6)
n.3565_3566del
c.3374_3375del (p.His1125ArgfsTer6)
c.3206_3207del (p.His1069ArgfsTer6)
c.2933_2934del (p.His978ArgfsTer6)
c.2783_2784del (p.His928ArgfsTer6)
 gnomAD v4
2g.208326204T>ACA350115441PIKFYVEc.3393T>A (p.His1131Gln)
c.3225T>A (p.His1075Gln)
c.3429T>A (p.His1143Gln)
c.3426T>A (p.His1142Gln)
c.3411T>A (p.His1137Gln)
c.3261T>A (p.His1087Gln)
c.3258T>A (p.His1086Gln)
c.3243T>A (p.His1081Gln)
c.3138T>A (p.His1046Gln)
c.3135T>A (p.His1045Gln)
c.3102T>A (p.His1034Gln)
c.2952T>A (p.His984Gln)
c.2436T>A (p.His812Gln)
n.3566T>A
c.3375T>A (p.His1125Gln)
c.3207T>A (p.His1069Gln)
c.2934T>A (p.His978Gln)
c.2784T>A (p.His928Gln)
2g.208326204T>CCA431117653PIKFYVEc.3393T>C (p.His1131=)
c.3225T>C (p.His1075=)
c.3429T>C (p.His1143=)
c.3426T>C (p.His1142=)
c.3411T>C (p.His1137=)
c.3261T>C (p.His1087=)
c.3258T>C (p.His1086=)
c.3243T>C (p.His1081=)
c.3138T>C (p.His1046=)
c.3135T>C (p.His1045=)
c.3102T>C (p.His1034=)
c.2952T>C (p.His984=)
c.2436T>C (p.His812=)
n.3566T>C
c.3375T>C (p.His1125=)
c.3207T>C (p.His1069=)
c.2934T>C (p.His978=)
c.2784T>C (p.His928=)
 gnomAD v4
2g.208326204T>GCA350115442PIKFYVEc.3393T>G (p.His1131Gln)
c.3225T>G (p.His1075Gln)
c.3429T>G (p.His1143Gln)
c.3426T>G (p.His1142Gln)
c.3411T>G (p.His1137Gln)
c.3261T>G (p.His1087Gln)
c.3258T>G (p.His1086Gln)
c.3243T>G (p.His1081Gln)
c.3138T>G (p.His1046Gln)
c.3135T>G (p.His1045Gln)
c.3102T>G (p.His1034Gln)
c.2952T>G (p.His984Gln)
c.2436T>G (p.His812Gln)
n.3566T>G
c.3375T>G (p.His1125Gln)
c.3207T>G (p.His1069Gln)
c.2934T>G (p.His978Gln)
c.2784T>G (p.His928Gln)
 gnomAD v4
2g.208326205G>ACA350115443PIKFYVEc.3394G>A (p.Glu1132Lys)
c.3226G>A (p.Glu1076Lys)
c.3430G>A (p.Glu1144Lys)
c.3427G>A (p.Glu1143Lys)
c.3412G>A (p.Glu1138Lys)
c.3262G>A (p.Glu1088Lys)
c.3259G>A (p.Glu1087Lys)
c.3244G>A (p.Glu1082Lys)
c.3139G>A (p.Glu1047Lys)
c.3136G>A (p.Glu1046Lys)
c.3103G>A (p.Glu1035Lys)
c.2953G>A (p.Glu985Lys)
c.2437G>A (p.Glu813Lys)
n.3567G>A
c.3376G>A (p.Glu1126Lys)
c.3208G>A (p.Glu1070Lys)
c.2935G>A (p.Glu979Lys)
c.2785G>A (p.Glu929Lys)
2g.208326205G>CCA350115444PIKFYVEc.3394G>C (p.Glu1132Gln)
c.3226G>C (p.Glu1076Gln)
c.3430G>C (p.Glu1144Gln)
c.3427G>C (p.Glu1143Gln)
c.3412G>C (p.Glu1138Gln)
c.3262G>C (p.Glu1088Gln)
c.3259G>C (p.Glu1087Gln)
c.3244G>C (p.Glu1082Gln)
c.3139G>C (p.Glu1047Gln)
c.3136G>C (p.Glu1046Gln)
c.3103G>C (p.Glu1035Gln)
c.2953G>C (p.Glu985Gln)
c.2437G>C (p.Glu813Gln)
n.3567G>C
c.3376G>C (p.Glu1126Gln)
c.3208G>C (p.Glu1070Gln)
c.2935G>C (p.Glu979Gln)
c.2785G>C (p.Glu929Gln)
2g.208326205G>TCA350115445PIKFYVEc.3394G>T (p.Glu1132Ter)
c.3226G>T (p.Glu1076Ter)
c.3430G>T (p.Glu1144Ter)
c.3427G>T (p.Glu1143Ter)
c.3412G>T (p.Glu1138Ter)
c.3262G>T (p.Glu1088Ter)
c.3259G>T (p.Glu1087Ter)
c.3244G>T (p.Glu1082Ter)
c.3139G>T (p.Glu1047Ter)
c.3136G>T (p.Glu1046Ter)
c.3103G>T (p.Glu1035Ter)
c.2953G>T (p.Glu985Ter)
c.2437G>T (p.Glu813Ter)
n.3567G>T
c.3376G>T (p.Glu1126Ter)
c.3208G>T (p.Glu1070Ter)
c.2935G>T (p.Glu979Ter)
c.2785G>T (p.Glu929Ter)
2g.208326206A>CCA350115446PIKFYVEc.3395A>C (p.Glu1132Ala)
c.3227A>C (p.Glu1076Ala)
c.3431A>C (p.Glu1144Ala)
c.3428A>C (p.Glu1143Ala)
c.3413A>C (p.Glu1138Ala)
c.3263A>C (p.Glu1088Ala)
c.3260A>C (p.Glu1087Ala)
c.3245A>C (p.Glu1082Ala)
c.3140A>C (p.Glu1047Ala)
c.3137A>C (p.Glu1046Ala)
c.3104A>C (p.Glu1035Ala)
c.2954A>C (p.Glu985Ala)
c.2438A>C (p.Glu813Ala)
n.3568A>C
c.3377A>C (p.Glu1126Ala)
c.3209A>C (p.Glu1070Ala)
c.2936A>C (p.Glu979Ala)
c.2786A>C (p.Glu929Ala)
2g.208326206A>GCA350115447PIKFYVEc.3395A>G (p.Glu1132Gly)
c.3227A>G (p.Glu1076Gly)
c.3431A>G (p.Glu1144Gly)
c.3428A>G (p.Glu1143Gly)
c.3413A>G (p.Glu1138Gly)
c.3263A>G (p.Glu1088Gly)
c.3260A>G (p.Glu1087Gly)
c.3245A>G (p.Glu1082Gly)
c.3140A>G (p.Glu1047Gly)
c.3137A>G (p.Glu1046Gly)
c.3104A>G (p.Glu1035Gly)
c.2954A>G (p.Glu985Gly)
c.2438A>G (p.Glu813Gly)
n.3568A>G
c.3377A>G (p.Glu1126Gly)
c.3209A>G (p.Glu1070Gly)
c.2936A>G (p.Glu979Gly)
c.2786A>G (p.Glu929Gly)
2g.208326206A>TCA350115448PIKFYVEc.3395A>T (p.Glu1132Val)
c.3227A>T (p.Glu1076Val)
c.3431A>T (p.Glu1144Val)
c.3428A>T (p.Glu1143Val)
c.3413A>T (p.Glu1138Val)
c.3263A>T (p.Glu1088Val)
c.3260A>T (p.Glu1087Val)
c.3245A>T (p.Glu1082Val)
c.3140A>T (p.Glu1047Val)
c.3137A>T (p.Glu1046Val)
c.3104A>T (p.Glu1035Val)
c.2954A>T (p.Glu985Val)
c.2438A>T (p.Glu813Val)
n.3568A>T
c.3377A>T (p.Glu1126Val)
c.3209A>T (p.Glu1070Val)
c.2936A>T (p.Glu979Val)
c.2786A>T (p.Glu929Val)
2g.208326207G>ACA431117655PIKFYVEc.3396G>A (p.Glu1132=)
c.3228G>A (p.Glu1076=)
c.3432G>A (p.Glu1144=)
c.3429G>A (p.Glu1143=)
c.3414G>A (p.Glu1138=)
c.3264G>A (p.Glu1088=)
c.3261G>A (p.Glu1087=)
c.3246G>A (p.Glu1082=)
c.3141G>A (p.Glu1047=)
c.3138G>A (p.Glu1046=)
c.3105G>A (p.Glu1035=)
c.2955G>A (p.Glu985=)
c.2439G>A (p.Glu813=)
n.3569G>A
c.3378G>A (p.Glu1126=)
c.3210G>A (p.Glu1070=)
c.2937G>A (p.Glu979=)
c.2787G>A (p.Glu929=)
 gnomAD v4
2g.208326207G>CCA350115449PIKFYVEc.3396G>C (p.Glu1132Asp)
c.3228G>C (p.Glu1076Asp)
c.3432G>C (p.Glu1144Asp)
c.3429G>C (p.Glu1143Asp)
c.3414G>C (p.Glu1138Asp)
c.3264G>C (p.Glu1088Asp)
c.3261G>C (p.Glu1087Asp)
c.3246G>C (p.Glu1082Asp)
c.3141G>C (p.Glu1047Asp)
c.3138G>C (p.Glu1046Asp)
c.3105G>C (p.Glu1035Asp)
c.2955G>C (p.Glu985Asp)
c.2439G>C (p.Glu813Asp)
n.3569G>C
c.3378G>C (p.Glu1126Asp)
c.3210G>C (p.Glu1070Asp)
c.2937G>C (p.Glu979Asp)
c.2787G>C (p.Glu929Asp)
2g.208326207G>TCA350115450PIKFYVEc.3396G>T (p.Glu1132Asp)
c.3228G>T (p.Glu1076Asp)
c.3432G>T (p.Glu1144Asp)
c.3429G>T (p.Glu1143Asp)
c.3414G>T (p.Glu1138Asp)
c.3264G>T (p.Glu1088Asp)
c.3261G>T (p.Glu1087Asp)
c.3246G>T (p.Glu1082Asp)
c.3141G>T (p.Glu1047Asp)
c.3138G>T (p.Glu1046Asp)
c.3105G>T (p.Glu1035Asp)
c.2955G>T (p.Glu985Asp)
c.2439G>T (p.Glu813Asp)
n.3569G>T
c.3378G>T (p.Glu1126Asp)
c.3210G>T (p.Glu1070Asp)
c.2937G>T (p.Glu979Asp)
c.2787G>T (p.Glu929Asp)
2g.208326208C>ACA64596672PIKFYVEc.3397C>A (p.Leu1133Ile)
c.3229C>A (p.Leu1077Ile)
c.3433C>A (p.Leu1145Ile)
c.3430C>A (p.Leu1144Ile)
c.3415C>A (p.Leu1139Ile)
c.3265C>A (p.Leu1089Ile)
c.3262C>A (p.Leu1088Ile)
c.3247C>A (p.Leu1083Ile)
c.3142C>A (p.Leu1048Ile)
c.3139C>A (p.Leu1047Ile)
c.3106C>A (p.Leu1036Ile)
c.2956C>A (p.Leu986Ile)
c.2440C>A (p.Leu814Ile)
n.3570C>A
c.3379C>A (p.Leu1127Ile)
c.3211C>A (p.Leu1071Ile)
c.2938C>A (p.Leu980Ile)
c.2788C>A (p.Leu930Ile)
 dbSNP
2g.208326208C=CA1324023415PIKFYVEc.3397C= (p.Leu1133=)
c.3229C= (p.Leu1077=)
c.3433C= (p.Leu1145=)
c.3430C= (p.Leu1144=)
c.3415C= (p.Leu1139=)
c.3265C= (p.Leu1089=)
c.3262C= (p.Leu1088=)
c.3247C= (p.Leu1083=)
c.3142C= (p.Leu1048=)
c.3139C= (p.Leu1047=)
c.3106C= (p.Leu1036=)
c.2956C= (p.Leu986=)
c.2440C= (p.Leu814=)
n.3570C=
c.3379C= (p.Leu1127=)
c.3211C= (p.Leu1071=)
c.2938C= (p.Leu980=)
c.2788C= (p.Leu930=)
2g.208326208C>GCA350115451PIKFYVEc.3397C>G (p.Leu1133Val)
c.3229C>G (p.Leu1077Val)
c.3433C>G (p.Leu1145Val)
c.3430C>G (p.Leu1144Val)
c.3415C>G (p.Leu1139Val)
c.3265C>G (p.Leu1089Val)
c.3262C>G (p.Leu1088Val)
c.3247C>G (p.Leu1083Val)
c.3142C>G (p.Leu1048Val)
c.3139C>G (p.Leu1047Val)
c.3106C>G (p.Leu1036Val)
c.2956C>G (p.Leu986Val)
c.2440C>G (p.Leu814Val)
n.3570C>G
c.3379C>G (p.Leu1127Val)
c.3211C>G (p.Leu1071Val)
c.2938C>G (p.Leu980Val)
c.2788C>G (p.Leu930Val)
2g.208326208C>TCA431117658PIKFYVEc.3397C>T (p.Leu1133=)
c.3229C>T (p.Leu1077=)
c.3433C>T (p.Leu1145=)
c.3430C>T (p.Leu1144=)
c.3415C>T (p.Leu1139=)
c.3265C>T (p.Leu1089=)
c.3262C>T (p.Leu1088=)
c.3247C>T (p.Leu1083=)
c.3142C>T (p.Leu1048=)
c.3139C>T (p.Leu1047=)
c.3106C>T (p.Leu1036=)
c.2956C>T (p.Leu986=)
c.2440C>T (p.Leu814=)
n.3570C>T
c.3379C>T (p.Leu1127=)
c.3211C>T (p.Leu1071=)
c.2938C>T (p.Leu980=)
c.2788C>T (p.Leu930=)
2g.208326209T>ACA350115452PIKFYVEc.3398T>A (p.Leu1133Gln)
c.3230T>A (p.Leu1077Gln)
c.3434T>A (p.Leu1145Gln)
c.3431T>A (p.Leu1144Gln)
c.3416T>A (p.Leu1139Gln)
c.3266T>A (p.Leu1089Gln)
c.3263T>A (p.Leu1088Gln)
c.3248T>A (p.Leu1083Gln)
c.3143T>A (p.Leu1048Gln)
c.3140T>A (p.Leu1047Gln)
c.3107T>A (p.Leu1036Gln)
c.2957T>A (p.Leu986Gln)
c.2441T>A (p.Leu814Gln)
n.3571T>A
c.3380T>A (p.Leu1127Gln)
c.3212T>A (p.Leu1071Gln)
c.2939T>A (p.Leu980Gln)
c.2789T>A (p.Leu930Gln)
2g.208326209T>CCA350115453PIKFYVEc.3398T>C (p.Leu1133Pro)
c.3230T>C (p.Leu1077Pro)
c.3434T>C (p.Leu1145Pro)
c.3431T>C (p.Leu1144Pro)
c.3416T>C (p.Leu1139Pro)
c.3266T>C (p.Leu1089Pro)
c.3263T>C (p.Leu1088Pro)
c.3248T>C (p.Leu1083Pro)
c.3143T>C (p.Leu1048Pro)
c.3140T>C (p.Leu1047Pro)
c.3107T>C (p.Leu1036Pro)
c.2957T>C (p.Leu986Pro)
c.2441T>C (p.Leu814Pro)
n.3571T>C
c.3380T>C (p.Leu1127Pro)
c.3212T>C (p.Leu1071Pro)
c.2939T>C (p.Leu980Pro)
c.2789T>C (p.Leu930Pro)
2g.208326209T>GCA350115454PIKFYVEc.3398T>G (p.Leu1133Arg)
c.3230T>G (p.Leu1077Arg)
c.3434T>G (p.Leu1145Arg)
c.3431T>G (p.Leu1144Arg)
c.3416T>G (p.Leu1139Arg)
c.3266T>G (p.Leu1089Arg)
c.3263T>G (p.Leu1088Arg)
c.3248T>G (p.Leu1083Arg)
c.3143T>G (p.Leu1048Arg)
c.3140T>G (p.Leu1047Arg)
c.3107T>G (p.Leu1036Arg)
c.2957T>G (p.Leu986Arg)
c.2441T>G (p.Leu814Arg)
n.3571T>G
c.3380T>G (p.Leu1127Arg)
c.3212T>G (p.Leu1071Arg)
c.2939T>G (p.Leu980Arg)
c.2789T>G (p.Leu930Arg)
2g.208326210A>CCA431117662PIKFYVEc.3399A>C (p.Leu1133=)
c.3231A>C (p.Leu1077=)
c.3435A>C (p.Leu1145=)
c.3432A>C (p.Leu1144=)
c.3417A>C (p.Leu1139=)
c.3267A>C (p.Leu1089=)
c.3264A>C (p.Leu1088=)
c.3249A>C (p.Leu1083=)
c.3144A>C (p.Leu1048=)
c.3141A>C (p.Leu1047=)
c.3108A>C (p.Leu1036=)
c.2958A>C (p.Leu986=)
c.2442A>C (p.Leu814=)
n.3572A>C
c.3381A>C (p.Leu1127=)
c.3213A>C (p.Leu1071=)
c.2940A>C (p.Leu980=)
c.2790A>C (p.Leu930=)
2g.208326210A>GCA431117663PIKFYVEc.3399A>G (p.Leu1133=)
c.3231A>G (p.Leu1077=)
c.3435A>G (p.Leu1145=)
c.3432A>G (p.Leu1144=)
c.3417A>G (p.Leu1139=)
c.3267A>G (p.Leu1089=)
c.3264A>G (p.Leu1088=)
c.3249A>G (p.Leu1083=)
c.3144A>G (p.Leu1048=)
c.3141A>G (p.Leu1047=)
c.3108A>G (p.Leu1036=)
c.2958A>G (p.Leu986=)
c.2442A>G (p.Leu814=)
n.3572A>G
c.3381A>G (p.Leu1127=)
c.3213A>G (p.Leu1071=)
c.2940A>G (p.Leu980=)
c.2790A>G (p.Leu930=)
2g.208326210A>TCA431117664PIKFYVEc.3399A>T (p.Leu1133=)
c.3231A>T (p.Leu1077=)
c.3435A>T (p.Leu1145=)
c.3432A>T (p.Leu1144=)
c.3417A>T (p.Leu1139=)
c.3267A>T (p.Leu1089=)
c.3264A>T (p.Leu1088=)
c.3249A>T (p.Leu1083=)
c.3144A>T (p.Leu1048=)
c.3141A>T (p.Leu1047=)
c.3108A>T (p.Leu1036=)
c.2958A>T (p.Leu986=)
c.2442A>T (p.Leu814=)
n.3572A>T
c.3381A>T (p.Leu1127=)
c.3213A>T (p.Leu1071=)
c.2940A>T (p.Leu980=)
c.2790A>T (p.Leu930=)
2g.208326211G>ACA350115455PIKFYVEc.3400G>A (p.Val1134Met)
c.3232G>A (p.Val1078Met)
c.3436G>A (p.Val1146Met)
c.3433G>A (p.Val1145Met)
c.3418G>A (p.Val1140Met)
c.3268G>A (p.Val1090Met)
c.3265G>A (p.Val1089Met)
c.3250G>A (p.Val1084Met)
c.3145G>A (p.Val1049Met)
c.3142G>A (p.Val1048Met)
c.3109G>A (p.Val1037Met)
c.2959G>A (p.Val987Met)
c.2443G>A (p.Val815Met)
n.3573G>A
c.3382G>A (p.Val1128Met)
c.3214G>A (p.Val1072Met)
c.2941G>A (p.Val981Met)
c.2791G>A (p.Val931Met)
2g.208326211G>CCA350115457PIKFYVEc.3400G>C (p.Val1134Leu)
c.3232G>C (p.Val1078Leu)
c.3436G>C (p.Val1146Leu)
c.3433G>C (p.Val1145Leu)
c.3418G>C (p.Val1140Leu)
c.3268G>C (p.Val1090Leu)
c.3265G>C (p.Val1089Leu)
c.3250G>C (p.Val1084Leu)
c.3145G>C (p.Val1049Leu)
c.3142G>C (p.Val1048Leu)
c.3109G>C (p.Val1037Leu)
c.2959G>C (p.Val987Leu)
c.2443G>C (p.Val815Leu)
n.3573G>C
c.3382G>C (p.Val1128Leu)
c.3214G>C (p.Val1072Leu)
c.2941G>C (p.Val981Leu)
c.2791G>C (p.Val931Leu)
 gnomAD v4
2g.208326211G>TCA350115456PIKFYVEc.3400G>T (p.Val1134Leu)
c.3232G>T (p.Val1078Leu)
c.3436G>T (p.Val1146Leu)
c.3433G>T (p.Val1145Leu)
c.3418G>T (p.Val1140Leu)
c.3268G>T (p.Val1090Leu)
c.3265G>T (p.Val1089Leu)
c.3250G>T (p.Val1084Leu)
c.3145G>T (p.Val1049Leu)
c.3142G>T (p.Val1048Leu)
c.3109G>T (p.Val1037Leu)
c.2959G>T (p.Val987Leu)
c.2443G>T (p.Val815Leu)
n.3573G>T
c.3382G>T (p.Val1128Leu)
c.3214G>T (p.Val1072Leu)
c.2941G>T (p.Val981Leu)
c.2791G>T (p.Val931Leu)
2g.208326212T>ACA350115458PIKFYVEc.3401T>A (p.Val1134Glu)
c.3233T>A (p.Val1078Glu)
c.3437T>A (p.Val1146Glu)
c.3434T>A (p.Val1145Glu)
c.3419T>A (p.Val1140Glu)
c.3269T>A (p.Val1090Glu)
c.3266T>A (p.Val1089Glu)
c.3251T>A (p.Val1084Glu)
c.3146T>A (p.Val1049Glu)
c.3143T>A (p.Val1048Glu)
c.3110T>A (p.Val1037Glu)
c.2960T>A (p.Val987Glu)
c.2444T>A (p.Val815Glu)
n.3574T>A
c.3383T>A (p.Val1128Glu)
c.3215T>A (p.Val1072Glu)
c.2942T>A (p.Val981Glu)
c.2792T>A (p.Val931Glu)
2g.208326212T>CCA350115459PIKFYVEc.3401T>C (p.Val1134Ala)
c.3233T>C (p.Val1078Ala)
c.3437T>C (p.Val1146Ala)
c.3434T>C (p.Val1145Ala)
c.3419T>C (p.Val1140Ala)
c.3269T>C (p.Val1090Ala)
c.3266T>C (p.Val1089Ala)
c.3251T>C (p.Val1084Ala)
c.3146T>C (p.Val1049Ala)
c.3143T>C (p.Val1048Ala)
c.3110T>C (p.Val1037Ala)
c.2960T>C (p.Val987Ala)
c.2444T>C (p.Val815Ala)
n.3574T>C
c.3383T>C (p.Val1128Ala)
c.3215T>C (p.Val1072Ala)
c.2942T>C (p.Val981Ala)
c.2792T>C (p.Val931Ala)
 gnomAD v4
2g.208326212T>GCA350115460PIKFYVEc.3401T>G (p.Val1134Gly)
c.3233T>G (p.Val1078Gly)
c.3437T>G (p.Val1146Gly)
c.3434T>G (p.Val1145Gly)
c.3419T>G (p.Val1140Gly)
c.3269T>G (p.Val1090Gly)
c.3266T>G (p.Val1089Gly)
c.3251T>G (p.Val1084Gly)
c.3146T>G (p.Val1049Gly)
c.3143T>G (p.Val1048Gly)
c.3110T>G (p.Val1037Gly)
c.2960T>G (p.Val987Gly)
c.2444T>G (p.Val815Gly)
n.3574T>G
c.3383T>G (p.Val1128Gly)
c.3215T>G (p.Val1072Gly)
c.2942T>G (p.Val981Gly)
c.2792T>G (p.Val931Gly)
2g.208326213G>ACA431117669PIKFYVEc.3402G>A (p.Val1134=)
c.3234G>A (p.Val1078=)
c.3438G>A (p.Val1146=)
c.3435G>A (p.Val1145=)
c.3420G>A (p.Val1140=)
c.3270G>A (p.Val1090=)
c.3267G>A (p.Val1089=)
c.3252G>A (p.Val1084=)
c.3147G>A (p.Val1049=)
c.3144G>A (p.Val1048=)
c.3111G>A (p.Val1037=)
c.2961G>A (p.Val987=)
c.2445G>A (p.Val815=)
n.3575G>A
c.3384G>A (p.Val1128=)
c.3216G>A (p.Val1072=)
c.2943G>A (p.Val981=)
c.2793G>A (p.Val931=)
2g.208326213G>CCA431117670PIKFYVEc.3402G>C (p.Val1134=)
c.3234G>C (p.Val1078=)
c.3438G>C (p.Val1146=)
c.3435G>C (p.Val1145=)
c.3420G>C (p.Val1140=)
c.3270G>C (p.Val1090=)
c.3267G>C (p.Val1089=)
c.3252G>C (p.Val1084=)
c.3147G>C (p.Val1049=)
c.3144G>C (p.Val1048=)
c.3111G>C (p.Val1037=)
c.2961G>C (p.Val987=)
c.2445G>C (p.Val815=)
n.3575G>C
c.3384G>C (p.Val1128=)
c.3216G>C (p.Val1072=)
c.2943G>C (p.Val981=)
c.2793G>C (p.Val931=)
2g.208326213G>TCA431117671PIKFYVEc.3402G>T (p.Val1134=)
c.3234G>T (p.Val1078=)
c.3438G>T (p.Val1146=)
c.3435G>T (p.Val1145=)
c.3420G>T (p.Val1140=)
c.3270G>T (p.Val1090=)
c.3267G>T (p.Val1089=)
c.3252G>T (p.Val1084=)
c.3147G>T (p.Val1049=)
c.3144G>T (p.Val1048=)
c.3111G>T (p.Val1037=)
c.2961G>T (p.Val987=)
c.2445G>T (p.Val815=)
n.3575G>T
c.3384G>T (p.Val1128=)
c.3216G>T (p.Val1072=)
c.2943G>T (p.Val981=)
c.2793G>T (p.Val931=)
2g.208326214A>CCA350115461PIKFYVEc.3403A>C (p.Ser1135Arg)
c.3235A>C (p.Ser1079Arg)
c.3439A>C (p.Ser1147Arg)
c.3436A>C (p.Ser1146Arg)
c.3421A>C (p.Ser1141Arg)
c.3271A>C (p.Ser1091Arg)
c.3268A>C (p.Ser1090Arg)
c.3253A>C (p.Ser1085Arg)
c.3148A>C (p.Ser1050Arg)
c.3145A>C (p.Ser1049Arg)
c.3112A>C (p.Ser1038Arg)
c.2962A>C (p.Ser988Arg)
c.2446A>C (p.Ser816Arg)
n.3576A>C
c.3385A>C (p.Ser1129Arg)
c.3217A>C (p.Ser1073Arg)
c.2944A>C (p.Ser982Arg)
c.2794A>C (p.Ser932Arg)
2g.208326214A>GCA350115462PIKFYVEc.3403A>G (p.Ser1135Gly)
c.3235A>G (p.Ser1079Gly)
c.3439A>G (p.Ser1147Gly)
c.3436A>G (p.Ser1146Gly)
c.3421A>G (p.Ser1141Gly)
c.3271A>G (p.Ser1091Gly)
c.3268A>G (p.Ser1090Gly)
c.3253A>G (p.Ser1085Gly)
c.3148A>G (p.Ser1050Gly)
c.3145A>G (p.Ser1049Gly)
c.3112A>G (p.Ser1038Gly)
c.2962A>G (p.Ser988Gly)
c.2446A>G (p.Ser816Gly)
n.3576A>G
c.3385A>G (p.Ser1129Gly)
c.3217A>G (p.Ser1073Gly)
c.2944A>G (p.Ser982Gly)
c.2794A>G (p.Ser932Gly)
2g.208326214A>TCA350115463PIKFYVEc.3403A>T (p.Ser1135Cys)
c.3235A>T (p.Ser1079Cys)
c.3439A>T (p.Ser1147Cys)
c.3436A>T (p.Ser1146Cys)
c.3421A>T (p.Ser1141Cys)
c.3271A>T (p.Ser1091Cys)
c.3268A>T (p.Ser1090Cys)
c.3253A>T (p.Ser1085Cys)
c.3148A>T (p.Ser1050Cys)
c.3145A>T (p.Ser1049Cys)
c.3112A>T (p.Ser1038Cys)
c.2962A>T (p.Ser988Cys)
c.2446A>T (p.Ser816Cys)
n.3576A>T
c.3385A>T (p.Ser1129Cys)
c.3217A>T (p.Ser1073Cys)
c.2944A>T (p.Ser982Cys)
c.2794A>T (p.Ser932Cys)
2g.208326215G>ACA350115464PIKFYVEc.3404G>A (p.Ser1135Asn)
c.3236G>A (p.Ser1079Asn)
c.3440G>A (p.Ser1147Asn)
c.3437G>A (p.Ser1146Asn)
c.3422G>A (p.Ser1141Asn)
c.3272G>A (p.Ser1091Asn)
c.3269G>A (p.Ser1090Asn)
c.3254G>A (p.Ser1085Asn)
c.3149G>A (p.Ser1050Asn)
c.3146G>A (p.Ser1049Asn)
c.3113G>A (p.Ser1038Asn)
c.2963G>A (p.Ser988Asn)
c.2447G>A (p.Ser816Asn)
n.3577G>A
c.3386G>A (p.Ser1129Asn)
c.3218G>A (p.Ser1073Asn)
c.2945G>A (p.Ser982Asn)
c.2795G>A (p.Ser932Asn)
2g.208326215G>CCA350115465PIKFYVEc.3404G>C (p.Ser1135Thr)
c.3236G>C (p.Ser1079Thr)
c.3440G>C (p.Ser1147Thr)
c.3437G>C (p.Ser1146Thr)
c.3422G>C (p.Ser1141Thr)
c.3272G>C (p.Ser1091Thr)
c.3269G>C (p.Ser1090Thr)
c.3254G>C (p.Ser1085Thr)
c.3149G>C (p.Ser1050Thr)
c.3146G>C (p.Ser1049Thr)
c.3113G>C (p.Ser1038Thr)
c.2963G>C (p.Ser988Thr)
c.2447G>C (p.Ser816Thr)
n.3577G>C
c.3386G>C (p.Ser1129Thr)
c.3218G>C (p.Ser1073Thr)
c.2945G>C (p.Ser982Thr)
c.2795G>C (p.Ser932Thr)
2g.208326215G>TCA350115466PIKFYVEc.3404G>T (p.Ser1135Ile)
c.3236G>T (p.Ser1079Ile)
c.3440G>T (p.Ser1147Ile)
c.3437G>T (p.Ser1146Ile)
c.3422G>T (p.Ser1141Ile)
c.3272G>T (p.Ser1091Ile)
c.3269G>T (p.Ser1090Ile)
c.3254G>T (p.Ser1085Ile)
c.3149G>T (p.Ser1050Ile)
c.3146G>T (p.Ser1049Ile)
c.3113G>T (p.Ser1038Ile)
c.2963G>T (p.Ser988Ile)
c.2447G>T (p.Ser816Ile)
n.3577G>T
c.3386G>T (p.Ser1129Ile)
c.3218G>T (p.Ser1073Ile)
c.2945G>T (p.Ser982Ile)
c.2795G>T (p.Ser932Ile)
 gnomAD v4
2g.208326216C>ACA350115467PIKFYVEc.3405C>A (p.Ser1135Arg)
c.3237C>A (p.Ser1079Arg)
c.3441C>A (p.Ser1147Arg)
c.3438C>A (p.Ser1146Arg)
c.3423C>A (p.Ser1141Arg)
c.3273C>A (p.Ser1091Arg)
c.3270C>A (p.Ser1090Arg)
c.3255C>A (p.Ser1085Arg)
c.3150C>A (p.Ser1050Arg)
c.3147C>A (p.Ser1049Arg)
c.3114C>A (p.Ser1038Arg)
c.2964C>A (p.Ser988Arg)
c.2448C>A (p.Ser816Arg)
n.3578C>A
c.3387C>A (p.Ser1129Arg)
c.3219C>A (p.Ser1073Arg)
c.2946C>A (p.Ser982Arg)
c.2796C>A (p.Ser932Arg)
 dbSNP
2g.208326216C=CA1324023416PIKFYVEc.3405C= (p.Ser1135=)
c.3237C= (p.Ser1079=)
c.3441C= (p.Ser1147=)
c.3438C= (p.Ser1146=)
c.3423C= (p.Ser1141=)
c.3273C= (p.Ser1091=)
c.3270C= (p.Ser1090=)
c.3255C= (p.Ser1085=)
c.3150C= (p.Ser1050=)
c.3147C= (p.Ser1049=)
c.3114C= (p.Ser1038=)
c.2964C= (p.Ser988=)
c.2448C= (p.Ser816=)
n.3578C=
c.3387C= (p.Ser1129=)
c.3219C= (p.Ser1073=)
c.2946C= (p.Ser982=)
c.2796C= (p.Ser932=)
2g.208326216C>GCA350115468PIKFYVEc.3405C>G (p.Ser1135Arg)
c.3237C>G (p.Ser1079Arg)
c.3441C>G (p.Ser1147Arg)
c.3438C>G (p.Ser1146Arg)
c.3423C>G (p.Ser1141Arg)
c.3273C>G (p.Ser1091Arg)
c.3270C>G (p.Ser1090Arg)
c.3255C>G (p.Ser1085Arg)
c.3150C>G (p.Ser1050Arg)
c.3147C>G (p.Ser1049Arg)
c.3114C>G (p.Ser1038Arg)
c.2964C>G (p.Ser988Arg)
c.2448C>G (p.Ser816Arg)
n.3578C>G
c.3387C>G (p.Ser1129Arg)
c.3219C>G (p.Ser1073Arg)
c.2946C>G (p.Ser982Arg)
c.2796C>G (p.Ser932Arg)
2g.208326216C>TCA431117673PIKFYVEc.3405C>T (p.Ser1135=)
c.3237C>T (p.Ser1079=)
c.3441C>T (p.Ser1147=)
c.3438C>T (p.Ser1146=)
c.3423C>T (p.Ser1141=)
c.3273C>T (p.Ser1091=)
c.3270C>T (p.Ser1090=)
c.3255C>T (p.Ser1085=)
c.3150C>T (p.Ser1050=)
c.3147C>T (p.Ser1049=)
c.3114C>T (p.Ser1038=)
c.2964C>T (p.Ser988=)
c.2448C>T (p.Ser816=)
n.3578C>T
c.3387C>T (p.Ser1129=)
c.3219C>T (p.Ser1073=)
c.2946C>T (p.Ser982=)
c.2796C>T (p.Ser932=)
2g.208326217A>CCA350115471PIKFYVEc.3406A>C (p.Thr1136Pro)
c.3238A>C (p.Thr1080Pro)
c.3442A>C (p.Thr1148Pro)
c.3439A>C (p.Thr1147Pro)
c.3424A>C (p.Thr1142Pro)
c.3274A>C (p.Thr1092Pro)
c.3271A>C (p.Thr1091Pro)
c.3256A>C (p.Thr1086Pro)
c.3151A>C (p.Thr1051Pro)
c.3148A>C (p.Thr1050Pro)
c.3115A>C (p.Thr1039Pro)
c.2965A>C (p.Thr989Pro)
c.2449A>C (p.Thr817Pro)
n.3579A>C
c.3388A>C (p.Thr1130Pro)
c.3220A>C (p.Thr1074Pro)
c.2947A>C (p.Thr983Pro)
c.2797A>C (p.Thr933Pro)
2g.208326217A>GCA350115469PIKFYVEc.3406A>G (p.Thr1136Ala)
c.3238A>G (p.Thr1080Ala)
c.3442A>G (p.Thr1148Ala)
c.3439A>G (p.Thr1147Ala)
c.3424A>G (p.Thr1142Ala)
c.3274A>G (p.Thr1092Ala)
c.3271A>G (p.Thr1091Ala)
c.3256A>G (p.Thr1086Ala)
c.3151A>G (p.Thr1051Ala)
c.3148A>G (p.Thr1050Ala)
c.3115A>G (p.Thr1039Ala)
c.2965A>G (p.Thr989Ala)
c.2449A>G (p.Thr817Ala)
n.3579A>G
c.3388A>G (p.Thr1130Ala)
c.3220A>G (p.Thr1074Ala)
c.2947A>G (p.Thr983Ala)
c.2797A>G (p.Thr933Ala)
2g.208326217A>TCA350115470PIKFYVEc.3406A>T (p.Thr1136Ser)
c.3238A>T (p.Thr1080Ser)
c.3442A>T (p.Thr1148Ser)
c.3439A>T (p.Thr1147Ser)
c.3424A>T (p.Thr1142Ser)
c.3274A>T (p.Thr1092Ser)
c.3271A>T (p.Thr1091Ser)
c.3256A>T (p.Thr1086Ser)
c.3151A>T (p.Thr1051Ser)
c.3148A>T (p.Thr1050Ser)
c.3115A>T (p.Thr1039Ser)
c.2965A>T (p.Thr989Ser)
c.2449A>T (p.Thr817Ser)
n.3579A>T
c.3388A>T (p.Thr1130Ser)
c.3220A>T (p.Thr1074Ser)
c.2947A>T (p.Thr983Ser)
c.2797A>T (p.Thr933Ser)
2g.208326218C>ACA350115472PIKFYVEc.3407C>A (p.Thr1136Asn)
c.3239C>A (p.Thr1080Asn)
c.3443C>A (p.Thr1148Asn)
c.3440C>A (p.Thr1147Asn)
c.3425C>A (p.Thr1142Asn)
c.3275C>A (p.Thr1092Asn)
c.3272C>A (p.Thr1091Asn)
c.3257C>A (p.Thr1086Asn)
c.3152C>A (p.Thr1051Asn)
c.3149C>A (p.Thr1050Asn)
c.3116C>A (p.Thr1039Asn)
c.2966C>A (p.Thr989Asn)
c.2450C>A (p.Thr817Asn)
n.3580C>A
c.3389C>A (p.Thr1130Asn)
c.3221C>A (p.Thr1074Asn)
c.2948C>A (p.Thr983Asn)
c.2798C>A (p.Thr933Asn)
2g.208326218C=CA1324023417PIKFYVEc.3407C= (p.Thr1136=)
c.3239C= (p.Thr1080=)
c.3443C= (p.Thr1148=)
c.3440C= (p.Thr1147=)
c.3425C= (p.Thr1142=)
c.3275C= (p.Thr1092=)
c.3272C= (p.Thr1091=)
c.3257C= (p.Thr1086=)
c.3152C= (p.Thr1051=)
c.3149C= (p.Thr1050=)
c.3116C= (p.Thr1039=)
c.2966C= (p.Thr989=)
c.2450C= (p.Thr817=)
n.3580C=
c.3389C= (p.Thr1130=)
c.3221C= (p.Thr1074=)
c.2948C= (p.Thr983=)
c.2798C= (p.Thr933=)
2g.208326218C>GCA350115473PIKFYVEc.3407C>G (p.Thr1136Ser)
c.3239C>G (p.Thr1080Ser)
c.3443C>G (p.Thr1148Ser)
c.3440C>G (p.Thr1147Ser)
c.3425C>G (p.Thr1142Ser)
c.3275C>G (p.Thr1092Ser)
c.3272C>G (p.Thr1091Ser)
c.3257C>G (p.Thr1086Ser)
c.3152C>G (p.Thr1051Ser)
c.3149C>G (p.Thr1050Ser)
c.3116C>G (p.Thr1039Ser)
c.2966C>G (p.Thr989Ser)
c.2450C>G (p.Thr817Ser)
n.3580C>G
c.3389C>G (p.Thr1130Ser)
c.3221C>G (p.Thr1074Ser)
c.2948C>G (p.Thr983Ser)
c.2798C>G (p.Thr933Ser)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.208326218C>TCA350115474PIKFYVEc.3407C>T (p.Thr1136Ile)
c.3239C>T (p.Thr1080Ile)
c.3443C>T (p.Thr1148Ile)
c.3440C>T (p.Thr1147Ile)
c.3425C>T (p.Thr1142Ile)
c.3275C>T (p.Thr1092Ile)
c.3272C>T (p.Thr1091Ile)
c.3257C>T (p.Thr1086Ile)
c.3152C>T (p.Thr1051Ile)
c.3149C>T (p.Thr1050Ile)
c.3116C>T (p.Thr1039Ile)
c.2966C>T (p.Thr989Ile)
c.2450C>T (p.Thr817Ile)
n.3580C>T
c.3389C>T (p.Thr1130Ile)
c.3221C>T (p.Thr1074Ile)
c.2948C>T (p.Thr983Ile)
c.2798C>T (p.Thr933Ile)
2g.208326219T>ACA431117680PIKFYVEc.3408T>A (p.Thr1136=)
c.3240T>A (p.Thr1080=)
c.3444T>A (p.Thr1148=)
c.3441T>A (p.Thr1147=)
c.3426T>A (p.Thr1142=)
c.3276T>A (p.Thr1092=)
c.3273T>A (p.Thr1091=)
c.3258T>A (p.Thr1086=)
c.3153T>A (p.Thr1051=)
c.3150T>A (p.Thr1050=)
c.3117T>A (p.Thr1039=)
c.2967T>A (p.Thr989=)
c.2451T>A (p.Thr817=)
n.3581T>A
c.3390T>A (p.Thr1130=)
c.3222T>A (p.Thr1074=)
c.2949T>A (p.Thr983=)
c.2799T>A (p.Thr933=)
2g.208326219T>CCA431117681PIKFYVEc.3408T>C (p.Thr1136=)
c.3240T>C (p.Thr1080=)
c.3444T>C (p.Thr1148=)
c.3441T>C (p.Thr1147=)
c.3426T>C (p.Thr1142=)
c.3276T>C (p.Thr1092=)
c.3273T>C (p.Thr1091=)
c.3258T>C (p.Thr1086=)
c.3153T>C (p.Thr1051=)
c.3150T>C (p.Thr1050=)
c.3117T>C (p.Thr1039=)
c.2967T>C (p.Thr989=)
c.2451T>C (p.Thr817=)
n.3581T>C
c.3390T>C (p.Thr1130=)
c.3222T>C (p.Thr1074=)
c.2949T>C (p.Thr983=)
c.2799T>C (p.Thr933=)
2g.208326219T>GCA431117682PIKFYVEc.3408T>G (p.Thr1136=)
c.3240T>G (p.Thr1080=)
c.3444T>G (p.Thr1148=)
c.3441T>G (p.Thr1147=)
c.3426T>G (p.Thr1142=)
c.3276T>G (p.Thr1092=)
c.3273T>G (p.Thr1091=)
c.3258T>G (p.Thr1086=)
c.3153T>G (p.Thr1051=)
c.3150T>G (p.Thr1050=)
c.3117T>G (p.Thr1039=)
c.2967T>G (p.Thr989=)
c.2451T>G (p.Thr817=)
n.3581T>G
c.3390T>G (p.Thr1130=)
c.3222T>G (p.Thr1074=)
c.2949T>G (p.Thr983=)
c.2799T>G (p.Thr933=)
2g.208326220A=CA1324023418PIKFYVEc.3409A= (p.Arg1137=)
c.3241A= (p.Arg1081=)
c.3445A= (p.Arg1149=)
c.3442A= (p.Arg1148=)
c.3427A= (p.Arg1143=)
c.3277A= (p.Arg1093=)
c.3274A= (p.Arg1092=)
c.3259A= (p.Arg1087=)
c.3154A= (p.Arg1052=)
c.3151A= (p.Arg1051=)
c.3118A= (p.Arg1040=)
c.2968A= (p.Arg990=)
c.2452A= (p.Arg818=)
n.3582A=
c.3391A= (p.Arg1131=)
c.3223A= (p.Arg1075=)
c.2950A= (p.Arg984=)
c.2800A= (p.Arg934=)
2g.208326220A>CCA431117683PIKFYVEc.3409A>C (p.Arg1137=)
c.3241A>C (p.Arg1081=)
c.3445A>C (p.Arg1149=)
c.3442A>C (p.Arg1148=)
c.3427A>C (p.Arg1143=)
c.3277A>C (p.Arg1093=)
c.3274A>C (p.Arg1092=)
c.3259A>C (p.Arg1087=)
c.3154A>C (p.Arg1052=)
c.3151A>C (p.Arg1051=)
c.3118A>C (p.Arg1040=)
c.2968A>C (p.Arg990=)
c.2452A>C (p.Arg818=)
n.3582A>C
c.3391A>C (p.Arg1131=)
c.3223A>C (p.Arg1075=)
c.2950A>C (p.Arg984=)
c.2800A>C (p.Arg934=)
2g.208326220A>GCA350115475PIKFYVEc.3409A>G (p.Arg1137Gly)
c.3241A>G (p.Arg1081Gly)
c.3445A>G (p.Arg1149Gly)
c.3442A>G (p.Arg1148Gly)
c.3427A>G (p.Arg1143Gly)
c.3277A>G (p.Arg1093Gly)
c.3274A>G (p.Arg1092Gly)
c.3259A>G (p.Arg1087Gly)
c.3154A>G (p.Arg1052Gly)
c.3151A>G (p.Arg1051Gly)
c.3118A>G (p.Arg1040Gly)
c.2968A>G (p.Arg990Gly)
c.2452A>G (p.Arg818Gly)
n.3582A>G
c.3391A>G (p.Arg1131Gly)
c.3223A>G (p.Arg1075Gly)
c.2950A>G (p.Arg984Gly)
c.2800A>G (p.Arg934Gly)
 dbSNP gnomAD v2 gnomAD v4
2g.208326220A>TCA350115476PIKFYVEc.3409A>T (p.Arg1137Ter)
c.3241A>T (p.Arg1081Ter)
c.3445A>T (p.Arg1149Ter)
c.3442A>T (p.Arg1148Ter)
c.3427A>T (p.Arg1143Ter)
c.3277A>T (p.Arg1093Ter)
c.3274A>T (p.Arg1092Ter)
c.3259A>T (p.Arg1087Ter)
c.3154A>T (p.Arg1052Ter)
c.3151A>T (p.Arg1051Ter)
c.3118A>T (p.Arg1040Ter)
c.2968A>T (p.Arg990Ter)
c.2452A>T (p.Arg818Ter)
n.3582A>T
c.3391A>T (p.Arg1131Ter)
c.3223A>T (p.Arg1075Ter)
c.2950A>T (p.Arg984Ter)
c.2800A>T (p.Arg934Ter)
2g.208326221G>ACA350115477PIKFYVEc.3410G>A (p.Arg1137Lys)
c.3242G>A (p.Arg1081Lys)
c.3446G>A (p.Arg1149Lys)
c.3443G>A (p.Arg1148Lys)
c.3428G>A (p.Arg1143Lys)
c.3278G>A (p.Arg1093Lys)
c.3275G>A (p.Arg1092Lys)
c.3260G>A (p.Arg1087Lys)
c.3155G>A (p.Arg1052Lys)
c.3152G>A (p.Arg1051Lys)
c.3119G>A (p.Arg1040Lys)
c.2969G>A (p.Arg990Lys)
c.2453G>A (p.Arg818Lys)
n.3583G>A
c.3392G>A (p.Arg1131Lys)
c.3224G>A (p.Arg1075Lys)
c.2951G>A (p.Arg984Lys)
c.2801G>A (p.Arg934Lys)
2g.208326221G>CCA350115478PIKFYVEc.3410G>C (p.Arg1137Thr)
c.3242G>C (p.Arg1081Thr)
c.3446G>C (p.Arg1149Thr)
c.3443G>C (p.Arg1148Thr)
c.3428G>C (p.Arg1143Thr)
c.3278G>C (p.Arg1093Thr)
c.3275G>C (p.Arg1092Thr)
c.3260G>C (p.Arg1087Thr)
c.3155G>C (p.Arg1052Thr)
c.3152G>C (p.Arg1051Thr)
c.3119G>C (p.Arg1040Thr)
c.2969G>C (p.Arg990Thr)
c.2453G>C (p.Arg818Thr)
n.3583G>C
c.3392G>C (p.Arg1131Thr)
c.3224G>C (p.Arg1075Thr)
c.2951G>C (p.Arg984Thr)
c.2801G>C (p.Arg934Thr)
2g.208326221G>TCA350115479PIKFYVEc.3410G>T (p.Arg1137Ile)
c.3242G>T (p.Arg1081Ile)
c.3446G>T (p.Arg1149Ile)
c.3443G>T (p.Arg1148Ile)
c.3428G>T (p.Arg1143Ile)
c.3278G>T (p.Arg1093Ile)
c.3275G>T (p.Arg1092Ile)
c.3260G>T (p.Arg1087Ile)
c.3155G>T (p.Arg1052Ile)
c.3152G>T (p.Arg1051Ile)
c.3119G>T (p.Arg1040Ile)
c.2969G>T (p.Arg990Ile)
c.2453G>T (p.Arg818Ile)
n.3583G>T
c.3392G>T (p.Arg1131Ile)
c.3224G>T (p.Arg1075Ile)
c.2951G>T (p.Arg984Ile)
c.2801G>T (p.Arg934Ile)
2g.208326222A>CCA350115480PIKFYVEc.3411A>C (p.Arg1137Ser)
c.3243A>C (p.Arg1081Ser)
c.3447A>C (p.Arg1149Ser)
c.3444A>C (p.Arg1148Ser)
c.3429A>C (p.Arg1143Ser)
c.3279A>C (p.Arg1093Ser)
c.3276A>C (p.Arg1092Ser)
c.3261A>C (p.Arg1087Ser)
c.3156A>C (p.Arg1052Ser)
c.3153A>C (p.Arg1051Ser)
c.3120A>C (p.Arg1040Ser)
c.2970A>C (p.Arg990Ser)
c.2454A>C (p.Arg818Ser)
n.3584A>C
c.3393A>C (p.Arg1131Ser)
c.3225A>C (p.Arg1075Ser)
c.2952A>C (p.Arg984Ser)
c.2802A>C (p.Arg934Ser)
2g.208326222A>GCA431117685PIKFYVEc.3411A>G (p.Arg1137=)
c.3243A>G (p.Arg1081=)
c.3447A>G (p.Arg1149=)
c.3444A>G (p.Arg1148=)
c.3429A>G (p.Arg1143=)
c.3279A>G (p.Arg1093=)
c.3276A>G (p.Arg1092=)
c.3261A>G (p.Arg1087=)
c.3156A>G (p.Arg1052=)
c.3153A>G (p.Arg1051=)
c.3120A>G (p.Arg1040=)
c.2970A>G (p.Arg990=)
c.2454A>G (p.Arg818=)
n.3584A>G
c.3393A>G (p.Arg1131=)
c.3225A>G (p.Arg1075=)
c.2952A>G (p.Arg984=)
c.2802A>G (p.Arg934=)
2g.208326222A>TCA350115481PIKFYVEc.3411A>T (p.Arg1137Ser)
c.3243A>T (p.Arg1081Ser)
c.3447A>T (p.Arg1149Ser)
c.3444A>T (p.Arg1148Ser)
c.3429A>T (p.Arg1143Ser)
c.3279A>T (p.Arg1093Ser)
c.3276A>T (p.Arg1092Ser)
c.3261A>T (p.Arg1087Ser)
c.3156A>T (p.Arg1052Ser)
c.3153A>T (p.Arg1051Ser)
c.3120A>T (p.Arg1040Ser)
c.2970A>T (p.Arg990Ser)
c.2454A>T (p.Arg818Ser)
n.3584A>T
c.3393A>T (p.Arg1131Ser)
c.3225A>T (p.Arg1075Ser)
c.2952A>T (p.Arg984Ser)
c.2802A>T (p.Arg934Ser)
2g.208326223A>CCA350115482PIKFYVEc.3412A>C (p.Ile1138Leu)
c.3244A>C (p.Ile1082Leu)
c.3448A>C (p.Ile1150Leu)
c.3445A>C (p.Ile1149Leu)
c.3430A>C (p.Ile1144Leu)
c.3280A>C (p.Ile1094Leu)
c.3277A>C (p.Ile1093Leu)
c.3262A>C (p.Ile1088Leu)
c.3157A>C (p.Ile1053Leu)
c.3154A>C (p.Ile1052Leu)
c.3121A>C (p.Ile1041Leu)
c.2971A>C (p.Ile991Leu)
c.2455A>C (p.Ile819Leu)
n.3585A>C
c.3394A>C (p.Ile1132Leu)
c.3226A>C (p.Ile1076Leu)
c.2953A>C (p.Ile985Leu)
c.2803A>C (p.Ile935Leu)
2g.208326223A>GCA350115483PIKFYVEc.3412A>G (p.Ile1138Val)
c.3244A>G (p.Ile1082Val)
c.3448A>G (p.Ile1150Val)
c.3445A>G (p.Ile1149Val)
c.3430A>G (p.Ile1144Val)
c.3280A>G (p.Ile1094Val)
c.3277A>G (p.Ile1093Val)
c.3262A>G (p.Ile1088Val)
c.3157A>G (p.Ile1053Val)
c.3154A>G (p.Ile1052Val)
c.3121A>G (p.Ile1041Val)
c.2971A>G (p.Ile991Val)
c.2455A>G (p.Ile819Val)
n.3585A>G
c.3394A>G (p.Ile1132Val)
c.3226A>G (p.Ile1076Val)
c.2953A>G (p.Ile985Val)
c.2803A>G (p.Ile935Val)
2g.208326223A>TCA350115484PIKFYVEc.3412A>T (p.Ile1138Phe)
c.3244A>T (p.Ile1082Phe)
c.3448A>T (p.Ile1150Phe)
c.3445A>T (p.Ile1149Phe)
c.3430A>T (p.Ile1144Phe)
c.3280A>T (p.Ile1094Phe)
c.3277A>T (p.Ile1093Phe)
c.3262A>T (p.Ile1088Phe)
c.3157A>T (p.Ile1053Phe)
c.3154A>T (p.Ile1052Phe)
c.3121A>T (p.Ile1041Phe)
c.2971A>T (p.Ile991Phe)
c.2455A>T (p.Ile819Phe)
n.3585A>T
c.3394A>T (p.Ile1132Phe)
c.3226A>T (p.Ile1076Phe)
c.2953A>T (p.Ile985Phe)
c.2803A>T (p.Ile935Phe)
2g.208326224T>ACA350115487PIKFYVEc.3413T>A (p.Ile1138Asn)
c.3245T>A (p.Ile1082Asn)
c.3449T>A (p.Ile1150Asn)
c.3446T>A (p.Ile1149Asn)
c.3431T>A (p.Ile1144Asn)
c.3281T>A (p.Ile1094Asn)
c.3278T>A (p.Ile1093Asn)
c.3263T>A (p.Ile1088Asn)
c.3158T>A (p.Ile1053Asn)
c.3155T>A (p.Ile1052Asn)
c.3122T>A (p.Ile1041Asn)
c.2972T>A (p.Ile991Asn)
c.2456T>A (p.Ile819Asn)
n.3586T>A
c.3395T>A (p.Ile1132Asn)
c.3227T>A (p.Ile1076Asn)
c.2954T>A (p.Ile985Asn)
c.2804T>A (p.Ile935Asn)
2g.208326224T>CCA350115485PIKFYVEc.3413T>C (p.Ile1138Thr)
c.3245T>C (p.Ile1082Thr)
c.3449T>C (p.Ile1150Thr)
c.3446T>C (p.Ile1149Thr)
c.3431T>C (p.Ile1144Thr)
c.3281T>C (p.Ile1094Thr)
c.3278T>C (p.Ile1093Thr)
c.3263T>C (p.Ile1088Thr)
c.3158T>C (p.Ile1053Thr)
c.3155T>C (p.Ile1052Thr)
c.3122T>C (p.Ile1041Thr)
c.2972T>C (p.Ile991Thr)
c.2456T>C (p.Ile819Thr)
n.3586T>C
c.3395T>C (p.Ile1132Thr)
c.3227T>C (p.Ile1076Thr)
c.2954T>C (p.Ile985Thr)
c.2804T>C (p.Ile935Thr)
 gnomAD v4
2g.208326224T>GCA350115486PIKFYVEc.3413T>G (p.Ile1138Ser)
c.3245T>G (p.Ile1082Ser)
c.3449T>G (p.Ile1150Ser)
c.3446T>G (p.Ile1149Ser)
c.3431T>G (p.Ile1144Ser)
c.3281T>G (p.Ile1094Ser)
c.3278T>G (p.Ile1093Ser)
c.3263T>G (p.Ile1088Ser)
c.3158T>G (p.Ile1053Ser)
c.3155T>G (p.Ile1052Ser)
c.3122T>G (p.Ile1041Ser)
c.2972T>G (p.Ile991Ser)
c.2456T>G (p.Ile819Ser)
n.3586T>G
c.3395T>G (p.Ile1132Ser)
c.3227T>G (p.Ile1076Ser)
c.2954T>G (p.Ile985Ser)
c.2804T>G (p.Ile935Ser)
2g.208326225T>ACA431117691PIKFYVEc.3414T>A (p.Ile1138=)
c.3246T>A (p.Ile1082=)
c.3450T>A (p.Ile1150=)
c.3447T>A (p.Ile1149=)
c.3432T>A (p.Ile1144=)
c.3282T>A (p.Ile1094=)
c.3279T>A (p.Ile1093=)
c.3264T>A (p.Ile1088=)
c.3159T>A (p.Ile1053=)
c.3156T>A (p.Ile1052=)
c.3123T>A (p.Ile1041=)
c.2973T>A (p.Ile991=)
c.2457T>A (p.Ile819=)
n.3587T>A
c.3396T>A (p.Ile1132=)
c.3228T>A (p.Ile1076=)
c.2955T>A (p.Ile985=)
c.2805T>A (p.Ile935=)
2g.208326225T>CCA431117692PIKFYVEc.3414T>C (p.Ile1138=)
c.3246T>C (p.Ile1082=)
c.3450T>C (p.Ile1150=)
c.3447T>C (p.Ile1149=)
c.3432T>C (p.Ile1144=)
c.3282T>C (p.Ile1094=)
c.3279T>C (p.Ile1093=)
c.3264T>C (p.Ile1088=)
c.3159T>C (p.Ile1053=)
c.3156T>C (p.Ile1052=)
c.3123T>C (p.Ile1041=)
c.2973T>C (p.Ile991=)
c.2457T>C (p.Ile819=)
n.3587T>C
c.3396T>C (p.Ile1132=)
c.3228T>C (p.Ile1076=)
c.2955T>C (p.Ile985=)
c.2805T>C (p.Ile935=)
2g.208326225T>GCA350115488PIKFYVEc.3414T>G (p.Ile1138Met)
c.3246T>G (p.Ile1082Met)
c.3450T>G (p.Ile1150Met)
c.3447T>G (p.Ile1149Met)
c.3432T>G (p.Ile1144Met)
c.3282T>G (p.Ile1094Met)
c.3279T>G (p.Ile1093Met)
c.3264T>G (p.Ile1088Met)
c.3159T>G (p.Ile1053Met)
c.3156T>G (p.Ile1052Met)
c.3123T>G (p.Ile1041Met)
c.2973T>G (p.Ile991Met)
c.2457T>G (p.Ile819Met)
n.3587T>G
c.3396T>G (p.Ile1132Met)
c.3228T>G (p.Ile1076Met)
c.2955T>G (p.Ile985Met)
c.2805T>G (p.Ile935Met)
2g.208326226G>ACA350115489PIKFYVEc.3415G>A (p.Ala1139Thr)
c.3247G>A (p.Ala1083Thr)
c.3451G>A (p.Ala1151Thr)
c.3448G>A (p.Ala1150Thr)
c.3433G>A (p.Ala1145Thr)
c.3283G>A (p.Ala1095Thr)
c.3280G>A (p.Ala1094Thr)
c.3265G>A (p.Ala1089Thr)
c.3160G>A (p.Ala1054Thr)
c.3157G>A (p.Ala1053Thr)
c.3124G>A (p.Ala1042Thr)
c.2974G>A (p.Ala992Thr)
c.2458G>A (p.Ala820Thr)
n.3588G>A
c.3397G>A (p.Ala1133Thr)
c.3229G>A (p.Ala1077Thr)
c.2956G>A (p.Ala986Thr)
c.2806G>A (p.Ala936Thr)
2g.208326226G>CCA350115490PIKFYVEc.3415G>C (p.Ala1139Pro)
c.3247G>C (p.Ala1083Pro)
c.3451G>C (p.Ala1151Pro)
c.3448G>C (p.Ala1150Pro)
c.3433G>C (p.Ala1145Pro)
c.3283G>C (p.Ala1095Pro)
c.3280G>C (p.Ala1094Pro)
c.3265G>C (p.Ala1089Pro)
c.3160G>C (p.Ala1054Pro)
c.3157G>C (p.Ala1053Pro)
c.3124G>C (p.Ala1042Pro)
c.2974G>C (p.Ala992Pro)
c.2458G>C (p.Ala820Pro)
n.3588G>C
c.3397G>C (p.Ala1133Pro)
c.3229G>C (p.Ala1077Pro)
c.2956G>C (p.Ala986Pro)
c.2806G>C (p.Ala936Pro)
2g.208326226G>TCA350115491PIKFYVEc.3415G>T (p.Ala1139Ser)
c.3247G>T (p.Ala1083Ser)
c.3451G>T (p.Ala1151Ser)
c.3448G>T (p.Ala1150Ser)
c.3433G>T (p.Ala1145Ser)
c.3283G>T (p.Ala1095Ser)
c.3280G>T (p.Ala1094Ser)
c.3265G>T (p.Ala1089Ser)
c.3160G>T (p.Ala1054Ser)
c.3157G>T (p.Ala1053Ser)
c.3124G>T (p.Ala1042Ser)
c.2974G>T (p.Ala992Ser)
c.2458G>T (p.Ala820Ser)
n.3588G>T
c.3397G>T (p.Ala1133Ser)
c.3229G>T (p.Ala1077Ser)
c.2956G>T (p.Ala986Ser)
c.2806G>T (p.Ala936Ser)
2g.208326227C>ACA350115492PIKFYVEc.3416C>A (p.Ala1139Asp)
c.3248C>A (p.Ala1083Asp)
c.3452C>A (p.Ala1151Asp)
c.3449C>A (p.Ala1150Asp)
c.3434C>A (p.Ala1145Asp)
c.3284C>A (p.Ala1095Asp)
c.3281C>A (p.Ala1094Asp)
c.3266C>A (p.Ala1089Asp)
c.3161C>A (p.Ala1054Asp)
c.3158C>A (p.Ala1053Asp)
c.3125C>A (p.Ala1042Asp)
c.2975C>A (p.Ala992Asp)
c.2459C>A (p.Ala820Asp)
n.3589C>A
c.3398C>A (p.Ala1133Asp)
c.3230C>A (p.Ala1077Asp)
c.2957C>A (p.Ala986Asp)
c.2807C>A (p.Ala936Asp)
 gnomAD v4
2g.208326227C>GCA350115493PIKFYVEc.3416C>G (p.Ala1139Gly)
c.3248C>G (p.Ala1083Gly)
c.3452C>G (p.Ala1151Gly)
c.3449C>G (p.Ala1150Gly)
c.3434C>G (p.Ala1145Gly)
c.3284C>G (p.Ala1095Gly)
c.3281C>G (p.Ala1094Gly)
c.3266C>G (p.Ala1089Gly)
c.3161C>G (p.Ala1054Gly)
c.3158C>G (p.Ala1053Gly)
c.3125C>G (p.Ala1042Gly)
c.2975C>G (p.Ala992Gly)
c.2459C>G (p.Ala820Gly)
n.3589C>G
c.3398C>G (p.Ala1133Gly)
c.3230C>G (p.Ala1077Gly)
c.2957C>G (p.Ala986Gly)
c.2807C>G (p.Ala936Gly)
2g.208326227C>TCA350115494PIKFYVEc.3416C>T (p.Ala1139Val)
c.3248C>T (p.Ala1083Val)
c.3452C>T (p.Ala1151Val)
c.3449C>T (p.Ala1150Val)
c.3434C>T (p.Ala1145Val)
c.3284C>T (p.Ala1095Val)
c.3281C>T (p.Ala1094Val)
c.3266C>T (p.Ala1089Val)
c.3161C>T (p.Ala1054Val)
c.3158C>T (p.Ala1053Val)
c.3125C>T (p.Ala1042Val)
c.2975C>T (p.Ala992Val)
c.2459C>T (p.Ala820Val)
n.3589C>T
c.3398C>T (p.Ala1133Val)
c.3230C>T (p.Ala1077Val)
c.2957C>T (p.Ala986Val)
c.2807C>T (p.Ala936Val)
2g.208326228T>ACA431117697PIKFYVEc.3417T>A (p.Ala1139=)
c.3249T>A (p.Ala1083=)
c.3453T>A (p.Ala1151=)
c.3450T>A (p.Ala1150=)
c.3435T>A (p.Ala1145=)
c.3285T>A (p.Ala1095=)
c.3282T>A (p.Ala1094=)
c.3267T>A (p.Ala1089=)
c.3162T>A (p.Ala1054=)
c.3159T>A (p.Ala1053=)
c.3126T>A (p.Ala1042=)
c.2976T>A (p.Ala992=)
c.2460T>A (p.Ala820=)
n.3590T>A
c.3399T>A (p.Ala1133=)
c.3231T>A (p.Ala1077=)
c.2958T>A (p.Ala986=)
c.2808T>A (p.Ala936=)
2g.208326228T>CCA2080029PIKFYVEc.3417T>C (p.Ala1139=)
c.3249T>C (p.Ala1083=)
c.3453T>C (p.Ala1151=)
c.3450T>C (p.Ala1150=)
c.3435T>C (p.Ala1145=)
c.3285T>C (p.Ala1095=)
c.3282T>C (p.Ala1094=)
c.3267T>C (p.Ala1089=)
c.3162T>C (p.Ala1054=)
c.3159T>C (p.Ala1053=)
c.3126T>C (p.Ala1042=)
c.2976T>C (p.Ala992=)
c.2460T>C (p.Ala820=)
n.3590T>C
c.3399T>C (p.Ala1133=)
c.3231T>C (p.Ala1077=)
c.2958T>C (p.Ala986=)
c.2808T>C (p.Ala936=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.208326228T>GCA431117700PIKFYVEc.3417T>G (p.Ala1139=)
c.3249T>G (p.Ala1083=)
c.3453T>G (p.Ala1151=)
c.3450T>G (p.Ala1150=)
c.3435T>G (p.Ala1145=)
c.3285T>G (p.Ala1095=)
c.3282T>G (p.Ala1094=)
c.3267T>G (p.Ala1089=)
c.3162T>G (p.Ala1054=)
c.3159T>G (p.Ala1053=)
c.3126T>G (p.Ala1042=)
c.2976T>G (p.Ala992=)
c.2460T>G (p.Ala820=)
n.3590T>G
c.3399T>G (p.Ala1133=)
c.3231T>G (p.Ala1077=)
c.2958T>G (p.Ala986=)
c.2808T>G (p.Ala936=)
2g.208326228T=CA1324023419PIKFYVEc.3417T= (p.Ala1139=)
c.3249T= (p.Ala1083=)
c.3453T= (p.Ala1151=)
c.3450T= (p.Ala1150=)
c.3435T= (p.Ala1145=)
c.3285T= (p.Ala1095=)
c.3282T= (p.Ala1094=)
c.3267T= (p.Ala1089=)
c.3162T= (p.Ala1054=)
c.3159T= (p.Ala1053=)
c.3126T= (p.Ala1042=)
c.2976T= (p.Ala992=)
c.2460T= (p.Ala820=)
n.3590T=
c.3399T= (p.Ala1133=)
c.3231T= (p.Ala1077=)
c.2958T= (p.Ala986=)
c.2808T= (p.Ala936=)
2g.208326229G>ACA350115495PIKFYVEc.3418G>A (p.Glu1140Lys)
c.3250G>A (p.Glu1084Lys)
c.3454G>A (p.Glu1152Lys)
c.3451G>A (p.Glu1151Lys)
c.3436G>A (p.Glu1146Lys)
c.3286G>A (p.Glu1096Lys)
c.3283G>A (p.Glu1095Lys)
c.3268G>A (p.Glu1090Lys)
c.3163G>A (p.Glu1055Lys)
c.3160G>A (p.Glu1054Lys)
c.3127G>A (p.Glu1043Lys)
c.2977G>A (p.Glu993Lys)
c.2461G>A (p.Glu821Lys)
n.3591G>A
c.3400G>A (p.Glu1134Lys)
c.3232G>A (p.Glu1078Lys)
c.2959G>A (p.Glu987Lys)
c.2809G>A (p.Glu937Lys)
2g.208326229G>CCA350115496PIKFYVEc.3418G>C (p.Glu1140Gln)
c.3250G>C (p.Glu1084Gln)
c.3454G>C (p.Glu1152Gln)
c.3451G>C (p.Glu1151Gln)
c.3436G>C (p.Glu1146Gln)
c.3286G>C (p.Glu1096Gln)
c.3283G>C (p.Glu1095Gln)
c.3268G>C (p.Glu1090Gln)
c.3163G>C (p.Glu1055Gln)
c.3160G>C (p.Glu1054Gln)
c.3127G>C (p.Glu1043Gln)
c.2977G>C (p.Glu993Gln)
c.2461G>C (p.Glu821Gln)
n.3591G>C
c.3400G>C (p.Glu1134Gln)
c.3232G>C (p.Glu1078Gln)
c.2959G>C (p.Glu987Gln)
c.2809G>C (p.Glu937Gln)
 gnomAD v4
2g.208326229G>TCA350115497PIKFYVEc.3418G>T (p.Glu1140Ter)
c.3250G>T (p.Glu1084Ter)
c.3454G>T (p.Glu1152Ter)
c.3451G>T (p.Glu1151Ter)
c.3436G>T (p.Glu1146Ter)
c.3286G>T (p.Glu1096Ter)
c.3283G>T (p.Glu1095Ter)
c.3268G>T (p.Glu1090Ter)
c.3163G>T (p.Glu1055Ter)
c.3160G>T (p.Glu1054Ter)
c.3127G>T (p.Glu1043Ter)
c.2977G>T (p.Glu993Ter)
c.2461G>T (p.Glu821Ter)
n.3591G>T
c.3400G>T (p.Glu1134Ter)
c.3232G>T (p.Glu1078Ter)
c.2959G>T (p.Glu987Ter)
c.2809G>T (p.Glu937Ter)
2g.208326230A>CCA350115498PIKFYVEc.3419A>C (p.Glu1140Ala)
c.3251A>C (p.Glu1084Ala)
c.3455A>C (p.Glu1152Ala)
c.3452A>C (p.Glu1151Ala)
c.3437A>C (p.Glu1146Ala)
c.3287A>C (p.Glu1096Ala)
c.3284A>C (p.Glu1095Ala)
c.3269A>C (p.Glu1090Ala)
c.3164A>C (p.Glu1055Ala)
c.3161A>C (p.Glu1054Ala)
c.3128A>C (p.Glu1043Ala)
c.2978A>C (p.Glu993Ala)
c.2462A>C (p.Glu821Ala)
n.3592A>C
c.3401A>C (p.Glu1134Ala)
c.3233A>C (p.Glu1078Ala)
c.2960A>C (p.Glu987Ala)
c.2810A>C (p.Glu937Ala)
2g.208326230A>GCA350115500PIKFYVEc.3419A>G (p.Glu1140Gly)
c.3251A>G (p.Glu1084Gly)
c.3455A>G (p.Glu1152Gly)
c.3452A>G (p.Glu1151Gly)
c.3437A>G (p.Glu1146Gly)
c.3287A>G (p.Glu1096Gly)
c.3284A>G (p.Glu1095Gly)
c.3269A>G (p.Glu1090Gly)
c.3164A>G (p.Glu1055Gly)
c.3161A>G (p.Glu1054Gly)
c.3128A>G (p.Glu1043Gly)
c.2978A>G (p.Glu993Gly)
c.2462A>G (p.Glu821Gly)
n.3592A>G
c.3401A>G (p.Glu1134Gly)
c.3233A>G (p.Glu1078Gly)
c.2960A>G (p.Glu987Gly)
c.2810A>G (p.Glu937Gly)
2g.208326230A>TCA350115499PIKFYVEc.3419A>T (p.Glu1140Val)
c.3251A>T (p.Glu1084Val)
c.3455A>T (p.Glu1152Val)
c.3452A>T (p.Glu1151Val)
c.3437A>T (p.Glu1146Val)
c.3287A>T (p.Glu1096Val)
c.3284A>T (p.Glu1095Val)
c.3269A>T (p.Glu1090Val)
c.3164A>T (p.Glu1055Val)
c.3161A>T (p.Glu1054Val)
c.3128A>T (p.Glu1043Val)
c.2978A>T (p.Glu993Val)
c.2462A>T (p.Glu821Val)
n.3592A>T
c.3401A>T (p.Glu1134Val)
c.3233A>T (p.Glu1078Val)
c.2960A>T (p.Glu987Val)
c.2810A>T (p.Glu937Val)
 COSMIC
2g.208326231G>ACA431117702PIKFYVEc.3420G>A (p.Glu1140=)
c.3252G>A (p.Glu1084=)
c.3456G>A (p.Glu1152=)
c.3453G>A (p.Glu1151=)
c.3438G>A (p.Glu1146=)
c.3288G>A (p.Glu1096=)
c.3285G>A (p.Glu1095=)
c.3270G>A (p.Glu1090=)
c.3165G>A (p.Glu1055=)
c.3162G>A (p.Glu1054=)
c.3129G>A (p.Glu1043=)
c.2979G>A (p.Glu993=)
c.2463G>A (p.Glu821=)
n.3593G>A
c.3402G>A (p.Glu1134=)
c.3234G>A (p.Glu1078=)
c.2961G>A (p.Glu987=)
c.2811G>A (p.Glu937=)
2g.208326231G>CCA350115501PIKFYVEc.3420G>C (p.Glu1140Asp)
c.3252G>C (p.Glu1084Asp)
c.3456G>C (p.Glu1152Asp)
c.3453G>C (p.Glu1151Asp)
c.3438G>C (p.Glu1146Asp)
c.3288G>C (p.Glu1096Asp)
c.3285G>C (p.Glu1095Asp)
c.3270G>C (p.Glu1090Asp)
c.3165G>C (p.Glu1055Asp)
c.3162G>C (p.Glu1054Asp)
c.3129G>C (p.Glu1043Asp)
c.2979G>C (p.Glu993Asp)
c.2463G>C (p.Glu821Asp)
n.3593G>C
c.3402G>C (p.Glu1134Asp)
c.3234G>C (p.Glu1078Asp)
c.2961G>C (p.Glu987Asp)
c.2811G>C (p.Glu937Asp)
2g.208326231G=CA1324023420PIKFYVEc.3420G= (p.Glu1140=)
c.3252G= (p.Glu1084=)
c.3456G= (p.Glu1152=)
c.3453G= (p.Glu1151=)
c.3438G= (p.Glu1146=)
c.3288G= (p.Glu1096=)
c.3285G= (p.Glu1095=)
c.3270G= (p.Glu1090=)
c.3165G= (p.Glu1055=)
c.3162G= (p.Glu1054=)
c.3129G= (p.Glu1043=)
c.2979G= (p.Glu993=)
c.2463G= (p.Glu821=)
n.3593G=
c.3402G= (p.Glu1134=)
c.3234G= (p.Glu1078=)
c.2961G= (p.Glu987=)
c.2811G= (p.Glu937=)
2g.208326231G>TCA350115502PIKFYVEc.3420G>T (p.Glu1140Asp)
c.3252G>T (p.Glu1084Asp)
c.3456G>T (p.Glu1152Asp)
c.3453G>T (p.Glu1151Asp)
c.3438G>T (p.Glu1146Asp)
c.3288G>T (p.Glu1096Asp)
c.3285G>T (p.Glu1095Asp)
c.3270G>T (p.Glu1090Asp)
c.3165G>T (p.Glu1055Asp)
c.3162G>T (p.Glu1054Asp)
c.3129G>T (p.Glu1043Asp)
c.2979G>T (p.Glu993Asp)
c.2463G>T (p.Glu821Asp)
n.3593G>T
c.3402G>T (p.Glu1134Asp)
c.3234G>T (p.Glu1078Asp)
c.2961G>T (p.Glu987Asp)
c.2811G>T (p.Glu937Asp)
2g.208326232C>ACA350115503PIKFYVEc.3421C>A (p.His1141Asn)
c.3253C>A (p.His1085Asn)
c.3457C>A (p.His1153Asn)
c.3454C>A (p.His1152Asn)
c.3439C>A (p.His1147Asn)
c.3289C>A (p.His1097Asn)
c.3286C>A (p.His1096Asn)
c.3271C>A (p.His1091Asn)
c.3166C>A (p.His1056Asn)
c.3163C>A (p.His1055Asn)
c.3130C>A (p.His1044Asn)
c.2980C>A (p.His994Asn)
c.2464C>A (p.His822Asn)
n.3594C>A
c.3403C>A (p.His1135Asn)
c.3235C>A (p.His1079Asn)
c.2962C>A (p.His988Asn)
c.2812C>A (p.His938Asn)
 dbSNP gnomAD v2 gnomAD v4
2g.208326232C=CA1324023421PIKFYVEc.3421C= (p.His1141=)
c.3253C= (p.His1085=)
c.3457C= (p.His1153=)
c.3454C= (p.His1152=)
c.3439C= (p.His1147=)
c.3289C= (p.His1097=)
c.3286C= (p.His1096=)
c.3271C= (p.His1091=)
c.3166C= (p.His1056=)
c.3163C= (p.His1055=)
c.3130C= (p.His1044=)
c.2980C= (p.His994=)
c.2464C= (p.His822=)
n.3594C=
c.3403C= (p.His1135=)
c.3235C= (p.His1079=)
c.2962C= (p.His988=)
c.2812C= (p.His938=)
2g.208326232C>GCA350115504PIKFYVEc.3421C>G (p.His1141Asp)
c.3253C>G (p.His1085Asp)
c.3457C>G (p.His1153Asp)
c.3454C>G (p.His1152Asp)
c.3439C>G (p.His1147Asp)
c.3289C>G (p.His1097Asp)
c.3286C>G (p.His1096Asp)
c.3271C>G (p.His1091Asp)
c.3166C>G (p.His1056Asp)
c.3163C>G (p.His1055Asp)
c.3130C>G (p.His1044Asp)
c.2980C>G (p.His994Asp)
c.2464C>G (p.His822Asp)
n.3594C>G
c.3403C>G (p.His1135Asp)
c.3235C>G (p.His1079Asp)
c.2962C>G (p.His988Asp)
c.2812C>G (p.His938Asp)
2g.208326232C>TCA2080031PIKFYVEc.3421C>T (p.His1141Tyr)
c.3253C>T (p.His1085Tyr)
c.3457C>T (p.His1153Tyr)
c.3454C>T (p.His1152Tyr)
c.3439C>T (p.His1147Tyr)
c.3289C>T (p.His1097Tyr)
c.3286C>T (p.His1096Tyr)
c.3271C>T (p.His1091Tyr)
c.3166C>T (p.His1056Tyr)
c.3163C>T (p.His1055Tyr)
c.3130C>T (p.His1044Tyr)
c.2980C>T (p.His994Tyr)
c.2464C>T (p.His822Tyr)
n.3594C>T
c.3403C>T (p.His1135Tyr)
c.3235C>T (p.His1079Tyr)
c.2962C>T (p.His988Tyr)
c.2812C>T (p.His938Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.208326232dupCA2080030PIKFYVEc.3421dup (p.His1141ProfsTer5)
c.3253dup (p.His1085ProfsTer5)
c.3457dup (p.His1153ProfsTer5)
c.3454dup (p.His1152ProfsTer5)
c.3439dup (p.His1147ProfsTer5)
c.3289dup (p.His1097ProfsTer5)
c.3286dup (p.His1096ProfsTer5)
c.3271dup (p.His1091ProfsTer5)
c.3166dup (p.His1056ProfsTer5)
c.3163dup (p.His1055ProfsTer5)
c.3130dup (p.His1044ProfsTer5)
c.2980dup (p.His994ProfsTer5)
c.2464dup (p.His822ProfsTer5)
n.3594dup
c.3403dup (p.His1135ProfsTer5)
c.3235dup (p.His1079ProfsTer5)
c.2962dup (p.His988ProfsTer5)
c.2812dup (p.His938ProfsTer5)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.208326233A>CCA350115505PIKFYVEc.3422A>C (p.His1141Pro)
c.3254A>C (p.His1085Pro)
c.3458A>C (p.His1153Pro)
c.3455A>C (p.His1152Pro)
c.3440A>C (p.His1147Pro)
c.3290A>C (p.His1097Pro)
c.3287A>C (p.His1096Pro)
c.3272A>C (p.His1091Pro)
c.3167A>C (p.His1056Pro)
c.3164A>C (p.His1055Pro)
c.3131A>C (p.His1044Pro)
c.2981A>C (p.His994Pro)
c.2465A>C (p.His822Pro)
n.3595A>C
c.3404A>C (p.His1135Pro)
c.3236A>C (p.His1079Pro)
c.2963A>C (p.His988Pro)
c.2813A>C (p.His938Pro)
2g.208326233A>GCA350115506PIKFYVEc.3422A>G (p.His1141Arg)
c.3254A>G (p.His1085Arg)
c.3458A>G (p.His1153Arg)
c.3455A>G (p.His1152Arg)
c.3440A>G (p.His1147Arg)
c.3290A>G (p.His1097Arg)
c.3287A>G (p.His1096Arg)
c.3272A>G (p.His1091Arg)
c.3167A>G (p.His1056Arg)
c.3164A>G (p.His1055Arg)
c.3131A>G (p.His1044Arg)
c.2981A>G (p.His994Arg)
c.2465A>G (p.His822Arg)
n.3595A>G
c.3404A>G (p.His1135Arg)
c.3236A>G (p.His1079Arg)
c.2963A>G (p.His988Arg)
c.2813A>G (p.His938Arg)
 gnomAD v4
2g.208326233A>TCA350115507PIKFYVEc.3422A>T (p.His1141Leu)
c.3254A>T (p.His1085Leu)
c.3458A>T (p.His1153Leu)
c.3455A>T (p.His1152Leu)
c.3440A>T (p.His1147Leu)
c.3290A>T (p.His1097Leu)
c.3287A>T (p.His1096Leu)
c.3272A>T (p.His1091Leu)
c.3167A>T (p.His1056Leu)
c.3164A>T (p.His1055Leu)
c.3131A>T (p.His1044Leu)
c.2981A>T (p.His994Leu)
c.2465A>T (p.His822Leu)
n.3595A>T
c.3404A>T (p.His1135Leu)
c.3236A>T (p.His1079Leu)
c.2963A>T (p.His988Leu)
c.2813A>T (p.His938Leu)
2g.208326233_208326236dupCA2577226689PIKFYVEc.3422_3425dup (p.Gly1143SerfsTer4)
c.3254_3257dup (p.Gly1087SerfsTer4)
c.3458_3461dup (p.Gly1155SerfsTer4)
c.3455_3458dup (p.Gly1154SerfsTer4)
c.3440_3443dup (p.Gly1149SerfsTer4)
c.3290_3293dup (p.Gly1099SerfsTer4)
c.3287_3290dup (p.Gly1098SerfsTer4)
c.3272_3275dup (p.Gly1093SerfsTer4)
c.3167_3170dup (p.Gly1058SerfsTer4)
c.3164_3167dup (p.Gly1057SerfsTer4)
c.3131_3134dup (p.Gly1046SerfsTer4)
c.2981_2984dup (p.Gly996SerfsTer4)
c.2465_2468dup (p.Gly824SerfsTer4)
n.3595_3598dup
c.3404_3407dup (p.Gly1137SerfsTer4)
c.3236_3239dup (p.Gly1081SerfsTer4)
c.2963_2966dup (p.Gly990SerfsTer4)
c.2813_2816dup (p.Gly940SerfsTer4)
2g.208326234T>ACA350115508PIKFYVEc.3423T>A (p.His1141Gln)
c.3255T>A (p.His1085Gln)
c.3459T>A (p.His1153Gln)
c.3456T>A (p.His1152Gln)
c.3441T>A (p.His1147Gln)
c.3291T>A (p.His1097Gln)
c.3288T>A (p.His1096Gln)
c.3273T>A (p.His1091Gln)
c.3168T>A (p.His1056Gln)
c.3165T>A (p.His1055Gln)
c.3132T>A (p.His1044Gln)
c.2982T>A (p.His994Gln)
c.2466T>A (p.His822Gln)
n.3596T>A
c.3405T>A (p.His1135Gln)
c.3237T>A (p.His1079Gln)
c.2964T>A (p.His988Gln)
c.2814T>A (p.His938Gln)
2g.208326234T>CCA431117709PIKFYVEc.3423T>C (p.His1141=)
c.3255T>C (p.His1085=)
c.3459T>C (p.His1153=)
c.3456T>C (p.His1152=)
c.3441T>C (p.His1147=)
c.3291T>C (p.His1097=)
c.3288T>C (p.His1096=)
c.3273T>C (p.His1091=)
c.3168T>C (p.His1056=)
c.3165T>C (p.His1055=)
c.3132T>C (p.His1044=)
c.2982T>C (p.His994=)
c.2466T>C (p.His822=)
n.3596T>C
c.3405T>C (p.His1135=)
c.3237T>C (p.His1079=)
c.2964T>C (p.His988=)
c.2814T>C (p.His938=)
 dbSNP gnomAD v4
2g.208326234T>GCA350115509PIKFYVEc.3423T>G (p.His1141Gln)
c.3255T>G (p.His1085Gln)
c.3459T>G (p.His1153Gln)
c.3456T>G (p.His1152Gln)
c.3441T>G (p.His1147Gln)
c.3291T>G (p.His1097Gln)
c.3288T>G (p.His1096Gln)
c.3273T>G (p.His1091Gln)
c.3168T>G (p.His1056Gln)
c.3165T>G (p.His1055Gln)
c.3132T>G (p.His1044Gln)
c.2982T>G (p.His994Gln)
c.2466T>G (p.His822Gln)
n.3596T>G
c.3405T>G (p.His1135Gln)
c.3237T>G (p.His1079Gln)
c.2964T>G (p.His988Gln)
c.2814T>G (p.His938Gln)
2g.208326234T=CA1324023422PIKFYVEc.3423T= (p.His1141=)
c.3255T= (p.His1085=)
c.3459T= (p.His1153=)
c.3456T= (p.His1152=)
c.3441T= (p.His1147=)
c.3291T= (p.His1097=)
c.3288T= (p.His1096=)
c.3273T= (p.His1091=)
c.3168T= (p.His1056=)
c.3165T= (p.His1055=)
c.3132T= (p.His1044=)
c.2982T= (p.His994=)
c.2466T= (p.His822=)
n.3596T=
c.3405T= (p.His1135=)
c.3237T= (p.His1079=)
c.2964T= (p.His988=)
c.2814T= (p.His938=)
2g.208326235C>ACA350115510PIKFYVEc.3424C>A (p.Leu1142Met)
c.3256C>A (p.Leu1086Met)
c.3460C>A (p.Leu1154Met)
c.3457C>A (p.Leu1153Met)
c.3442C>A (p.Leu1148Met)
c.3292C>A (p.Leu1098Met)
c.3289C>A (p.Leu1097Met)
c.3274C>A (p.Leu1092Met)
c.3169C>A (p.Leu1057Met)
c.3166C>A (p.Leu1056Met)
c.3133C>A (p.Leu1045Met)
c.2983C>A (p.Leu995Met)
c.2467C>A (p.Leu823Met)
n.3597C>A
c.3406C>A (p.Leu1136Met)
c.3238C>A (p.Leu1080Met)
c.2965C>A (p.Leu989Met)
c.2815C>A (p.Leu939Met)
2g.208326235C>GCA350115511PIKFYVEc.3424C>G (p.Leu1142Val)
c.3256C>G (p.Leu1086Val)
c.3460C>G (p.Leu1154Val)
c.3457C>G (p.Leu1153Val)
c.3442C>G (p.Leu1148Val)
c.3292C>G (p.Leu1098Val)
c.3289C>G (p.Leu1097Val)
c.3274C>G (p.Leu1092Val)
c.3169C>G (p.Leu1057Val)
c.3166C>G (p.Leu1056Val)
c.3133C>G (p.Leu1045Val)
c.2983C>G (p.Leu995Val)
c.2467C>G (p.Leu823Val)
n.3597C>G
c.3406C>G (p.Leu1136Val)
c.3238C>G (p.Leu1080Val)
c.2965C>G (p.Leu989Val)
c.2815C>G (p.Leu939Val)
2g.208326235C>TCA431117710PIKFYVEc.3424C>T (p.Leu1142=)
c.3256C>T (p.Leu1086=)
c.3460C>T (p.Leu1154=)
c.3457C>T (p.Leu1153=)
c.3442C>T (p.Leu1148=)
c.3292C>T (p.Leu1098=)
c.3289C>T (p.Leu1097=)
c.3274C>T (p.Leu1092=)
c.3169C>T (p.Leu1057=)
c.3166C>T (p.Leu1056=)
c.3133C>T (p.Leu1045=)
c.2983C>T (p.Leu995=)
c.2467C>T (p.Leu823=)
n.3597C>T
c.3406C>T (p.Leu1136=)
c.3238C>T (p.Leu1080=)
c.2965C>T (p.Leu989=)
c.2815C>T (p.Leu939=)
2g.208326236T>ACA350115514PIKFYVEc.3425T>A (p.Leu1142Gln)
c.3257T>A (p.Leu1086Gln)
c.3461T>A (p.Leu1154Gln)
c.3458T>A (p.Leu1153Gln)
c.3443T>A (p.Leu1148Gln)
c.3293T>A (p.Leu1098Gln)
c.3290T>A (p.Leu1097Gln)
c.3275T>A (p.Leu1092Gln)
c.3170T>A (p.Leu1057Gln)
c.3167T>A (p.Leu1056Gln)
c.3134T>A (p.Leu1045Gln)
c.2984T>A (p.Leu995Gln)
c.2468T>A (p.Leu823Gln)
n.3598T>A
c.3407T>A (p.Leu1136Gln)
c.3239T>A (p.Leu1080Gln)
c.2966T>A (p.Leu989Gln)
c.2816T>A (p.Leu939Gln)
 COSMIC
2g.208326236T>CCA350115512PIKFYVEc.3425T>C (p.Leu1142Pro)
c.3257T>C (p.Leu1086Pro)
c.3461T>C (p.Leu1154Pro)
c.3458T>C (p.Leu1153Pro)
c.3443T>C (p.Leu1148Pro)
c.3293T>C (p.Leu1098Pro)
c.3290T>C (p.Leu1097Pro)
c.3275T>C (p.Leu1092Pro)
c.3170T>C (p.Leu1057Pro)
c.3167T>C (p.Leu1056Pro)
c.3134T>C (p.Leu1045Pro)
c.2984T>C (p.Leu995Pro)
c.2468T>C (p.Leu823Pro)
n.3598T>C
c.3407T>C (p.Leu1136Pro)
c.3239T>C (p.Leu1080Pro)
c.2966T>C (p.Leu989Pro)
c.2816T>C (p.Leu939Pro)
2g.208326236T>GCA350115513PIKFYVEc.3425T>G (p.Leu1142Arg)
c.3257T>G (p.Leu1086Arg)
c.3461T>G (p.Leu1154Arg)
c.3458T>G (p.Leu1153Arg)
c.3443T>G (p.Leu1148Arg)
c.3293T>G (p.Leu1098Arg)
c.3290T>G (p.Leu1097Arg)
c.3275T>G (p.Leu1092Arg)
c.3170T>G (p.Leu1057Arg)
c.3167T>G (p.Leu1056Arg)
c.3134T>G (p.Leu1045Arg)
c.2984T>G (p.Leu995Arg)
c.2468T>G (p.Leu823Arg)
n.3598T>G
c.3407T>G (p.Leu1136Arg)
c.3239T>G (p.Leu1080Arg)
c.2966T>G (p.Leu989Arg)
c.2816T>G (p.Leu939Arg)
 gnomAD v4
2g.208326237G>ACA64596689PIKFYVEc.3426G>A (p.Leu1142=)
c.3258G>A (p.Leu1086=)
c.3462G>A (p.Leu1154=)
c.3459G>A (p.Leu1153=)
c.3444G>A (p.Leu1148=)
c.3294G>A (p.Leu1098=)
c.3291G>A (p.Leu1097=)
c.3276G>A (p.Leu1092=)
c.3171G>A (p.Leu1057=)
c.3168G>A (p.Leu1056=)
c.3135G>A (p.Leu1045=)
c.2985G>A (p.Leu995=)
c.2469G>A (p.Leu823=)
n.3599G>A
c.3408G>A (p.Leu1136=)
c.3240G>A (p.Leu1080=)
c.2967G>A (p.Leu989=)
c.2817G>A (p.Leu939=)
 dbSNP
2g.208326237G>CCA431117719PIKFYVEc.3426G>C (p.Leu1142=)
c.3258G>C (p.Leu1086=)
c.3462G>C (p.Leu1154=)
c.3459G>C (p.Leu1153=)
c.3444G>C (p.Leu1148=)
c.3294G>C (p.Leu1098=)
c.3291G>C (p.Leu1097=)
c.3276G>C (p.Leu1092=)
c.3171G>C (p.Leu1057=)
c.3168G>C (p.Leu1056=)
c.3135G>C (p.Leu1045=)
c.2985G>C (p.Leu995=)
c.2469G>C (p.Leu823=)
n.3599G>C
c.3408G>C (p.Leu1136=)
c.3240G>C (p.Leu1080=)
c.2967G>C (p.Leu989=)
c.2817G>C (p.Leu939=)
2g.208326237G=CA1324023423PIKFYVEc.3426G= (p.Leu1142=)
c.3258G= (p.Leu1086=)
c.3462G= (p.Leu1154=)
c.3459G= (p.Leu1153=)
c.3444G= (p.Leu1148=)
c.3294G= (p.Leu1098=)
c.3291G= (p.Leu1097=)
c.3276G= (p.Leu1092=)
c.3171G= (p.Leu1057=)
c.3168G= (p.Leu1056=)
c.3135G= (p.Leu1045=)
c.2985G= (p.Leu995=)
c.2469G= (p.Leu823=)
n.3599G=
c.3408G= (p.Leu1136=)
c.3240G= (p.Leu1080=)
c.2967G= (p.Leu989=)
c.2817G= (p.Leu939=)
2g.208326237G>TCA431117720PIKFYVEc.3426G>T (p.Leu1142=)
c.3258G>T (p.Leu1086=)
c.3462G>T (p.Leu1154=)
c.3459G>T (p.Leu1153=)
c.3444G>T (p.Leu1148=)
c.3294G>T (p.Leu1098=)
c.3291G>T (p.Leu1097=)
c.3276G>T (p.Leu1092=)
c.3171G>T (p.Leu1057=)
c.3168G>T (p.Leu1056=)
c.3135G>T (p.Leu1045=)
c.2985G>T (p.Leu995=)
c.2469G>T (p.Leu823=)
n.3599G>T
c.3408G>T (p.Leu1136=)
c.3240G>T (p.Leu1080=)
c.2967G>T (p.Leu989=)
c.2817G>T (p.Leu939=)
2g.208326238G>ACA350115515PIKFYVEc.3427G>A (p.Gly1143Ser)
c.3259G>A (p.Gly1087Ser)
c.3463G>A (p.Gly1155Ser)
c.3460G>A (p.Gly1154Ser)
c.3445G>A (p.Gly1149Ser)
c.3295G>A (p.Gly1099Ser)
c.3292G>A (p.Gly1098Ser)
c.3277G>A (p.Gly1093Ser)
c.3172G>A (p.Gly1058Ser)
c.3169G>A (p.Gly1057Ser)
c.3136G>A (p.Gly1046Ser)
c.2986G>A (p.Gly996Ser)
c.2470G>A (p.Gly824Ser)
n.3600G>A
c.3409G>A (p.Gly1137Ser)
c.3241G>A (p.Gly1081Ser)
c.2968G>A (p.Gly990Ser)
c.2818G>A (p.Gly940Ser)
 gnomAD v4
2g.208326238G>CCA350115516PIKFYVEc.3427G>C (p.Gly1143Arg)
c.3259G>C (p.Gly1087Arg)
c.3463G>C (p.Gly1155Arg)
c.3460G>C (p.Gly1154Arg)
c.3445G>C (p.Gly1149Arg)
c.3295G>C (p.Gly1099Arg)
c.3292G>C (p.Gly1098Arg)
c.3277G>C (p.Gly1093Arg)
c.3172G>C (p.Gly1058Arg)
c.3169G>C (p.Gly1057Arg)
c.3136G>C (p.Gly1046Arg)
c.2986G>C (p.Gly996Arg)
c.2470G>C (p.Gly824Arg)
n.3600G>C
c.3409G>C (p.Gly1137Arg)
c.3241G>C (p.Gly1081Arg)
c.2968G>C (p.Gly990Arg)
c.2818G>C (p.Gly940Arg)
2g.208326238G=CA1324023424PIKFYVEc.3427G= (p.Gly1143=)
c.3259G= (p.Gly1087=)
c.3463G= (p.Gly1155=)
c.3460G= (p.Gly1154=)
c.3445G= (p.Gly1149=)
c.3295G= (p.Gly1099=)
c.3292G= (p.Gly1098=)
c.3277G= (p.Gly1093=)
c.3172G= (p.Gly1058=)
c.3169G= (p.Gly1057=)
c.3136G= (p.Gly1046=)
c.2986G= (p.Gly996=)
c.2470G= (p.Gly824=)
n.3600G=
c.3409G= (p.Gly1137=)
c.3241G= (p.Gly1081=)
c.2968G= (p.Gly990=)
c.2818G= (p.Gly940=)
2g.208326238G>TCA350115517PIKFYVEc.3427G>T (p.Gly1143Cys)
c.3259G>T (p.Gly1087Cys)
c.3463G>T (p.Gly1155Cys)
c.3460G>T (p.Gly1154Cys)
c.3445G>T (p.Gly1149Cys)
c.3295G>T (p.Gly1099Cys)
c.3292G>T (p.Gly1098Cys)
c.3277G>T (p.Gly1093Cys)
c.3172G>T (p.Gly1058Cys)
c.3169G>T (p.Gly1057Cys)
c.3136G>T (p.Gly1046Cys)
c.2986G>T (p.Gly996Cys)
c.2470G>T (p.Gly824Cys)
n.3600G>T
c.3409G>T (p.Gly1137Cys)
c.3241G>T (p.Gly1081Cys)
c.2968G>T (p.Gly990Cys)
c.2818G>T (p.Gly940Cys)
 dbSNP gnomAD v2 gnomAD v4
2g.208326239G>ACA350115518PIKFYVEc.3428G>A (p.Gly1143Asp)
c.3260G>A (p.Gly1087Asp)
c.3464G>A (p.Gly1155Asp)
c.3461G>A (p.Gly1154Asp)
c.3446G>A (p.Gly1149Asp)
c.3296G>A (p.Gly1099Asp)
c.3293G>A (p.Gly1098Asp)
c.3278G>A (p.Gly1093Asp)
c.3173G>A (p.Gly1058Asp)
c.3170G>A (p.Gly1057Asp)
c.3137G>A (p.Gly1046Asp)
c.2987G>A (p.Gly996Asp)
c.2471G>A (p.Gly824Asp)
n.3601G>A
c.3410G>A (p.Gly1137Asp)
c.3242G>A (p.Gly1081Asp)
c.2969G>A (p.Gly990Asp)
c.2819G>A (p.Gly940Asp)
2g.208326239G>CCA350115519PIKFYVEc.3428G>C (p.Gly1143Ala)
c.3260G>C (p.Gly1087Ala)
c.3464G>C (p.Gly1155Ala)
c.3461G>C (p.Gly1154Ala)
c.3446G>C (p.Gly1149Ala)
c.3296G>C (p.Gly1099Ala)
c.3293G>C (p.Gly1098Ala)
c.3278G>C (p.Gly1093Ala)
c.3173G>C (p.Gly1058Ala)
c.3170G>C (p.Gly1057Ala)
c.3137G>C (p.Gly1046Ala)
c.2987G>C (p.Gly996Ala)
c.2471G>C (p.Gly824Ala)
n.3601G>C
c.3410G>C (p.Gly1137Ala)
c.3242G>C (p.Gly1081Ala)
c.2969G>C (p.Gly990Ala)
c.2819G>C (p.Gly940Ala)
2g.208326239G=CA1324023425PIKFYVEc.3428G= (p.Gly1143=)
c.3260G= (p.Gly1087=)
c.3464G= (p.Gly1155=)
c.3461G= (p.Gly1154=)
c.3446G= (p.Gly1149=)
c.3296G= (p.Gly1099=)
c.3293G= (p.Gly1098=)
c.3278G= (p.Gly1093=)
c.3173G= (p.Gly1058=)
c.3170G= (p.Gly1057=)
c.3137G= (p.Gly1046=)
c.2987G= (p.Gly996=)
c.2471G= (p.Gly824=)
n.3601G=
c.3410G= (p.Gly1137=)
c.3242G= (p.Gly1081=)
c.2969G= (p.Gly990=)
c.2819G= (p.Gly940=)
2g.208326239G>TCA350115520PIKFYVEc.3428G>T (p.Gly1143Val)
c.3260G>T (p.Gly1087Val)
c.3464G>T (p.Gly1155Val)
c.3461G>T (p.Gly1154Val)
c.3446G>T (p.Gly1149Val)
c.3296G>T (p.Gly1099Val)
c.3293G>T (p.Gly1098Val)
c.3278G>T (p.Gly1093Val)
c.3173G>T (p.Gly1058Val)
c.3170G>T (p.Gly1057Val)
c.3137G>T (p.Gly1046Val)
c.2987G>T (p.Gly996Val)
c.2471G>T (p.Gly824Val)
n.3601G>T
c.3410G>T (p.Gly1137Val)
c.3242G>T (p.Gly1081Val)
c.2969G>T (p.Gly990Val)
c.2819G>T (p.Gly940Val)
 dbSNP gnomAD v2 gnomAD v4
2g.208326240C>ACA431117726PIKFYVEc.3429C>A (p.Gly1143=)
c.3261C>A (p.Gly1087=)
c.3465C>A (p.Gly1155=)
c.3462C>A (p.Gly1154=)
c.3447C>A (p.Gly1149=)
c.3297C>A (p.Gly1099=)
c.3294C>A (p.Gly1098=)
c.3279C>A (p.Gly1093=)
c.3174C>A (p.Gly1058=)
c.3171C>A (p.Gly1057=)
c.3138C>A (p.Gly1046=)
c.2988C>A (p.Gly996=)
c.2472C>A (p.Gly824=)
n.3602C>A
c.3411C>A (p.Gly1137=)
c.3243C>A (p.Gly1081=)
c.2970C>A (p.Gly990=)
c.2820C>A (p.Gly940=)
 gnomAD v4
2g.208326240C=CA1324023426PIKFYVEc.3429C= (p.Gly1143=)
c.3261C= (p.Gly1087=)
c.3465C= (p.Gly1155=)
c.3462C= (p.Gly1154=)
c.3447C= (p.Gly1149=)
c.3297C= (p.Gly1099=)
c.3294C= (p.Gly1098=)
c.3279C= (p.Gly1093=)
c.3174C= (p.Gly1058=)
c.3171C= (p.Gly1057=)
c.3138C= (p.Gly1046=)
c.2988C= (p.Gly996=)
c.2472C= (p.Gly824=)
n.3602C=
c.3411C= (p.Gly1137=)
c.3243C= (p.Gly1081=)
c.2970C= (p.Gly990=)
c.2820C= (p.Gly940=)
2g.208326240C>GCA431117731PIKFYVEc.3429C>G (p.Gly1143=)
c.3261C>G (p.Gly1087=)
c.3465C>G (p.Gly1155=)
c.3462C>G (p.Gly1154=)
c.3447C>G (p.Gly1149=)
c.3297C>G (p.Gly1099=)
c.3294C>G (p.Gly1098=)
c.3279C>G (p.Gly1093=)
c.3174C>G (p.Gly1058=)
c.3171C>G (p.Gly1057=)
c.3138C>G (p.Gly1046=)
c.2988C>G (p.Gly996=)
c.2472C>G (p.Gly824=)
n.3602C>G
c.3411C>G (p.Gly1137=)
c.3243C>G (p.Gly1081=)
c.2970C>G (p.Gly990=)
c.2820C>G (p.Gly940=)
2g.208326240C>TCA2080032PIKFYVEc.3429C>T (p.Gly1143=)
c.3261C>T (p.Gly1087=)
c.3465C>T (p.Gly1155=)
c.3462C>T (p.Gly1154=)
c.3447C>T (p.Gly1149=)
c.3297C>T (p.Gly1099=)
c.3294C>T (p.Gly1098=)
c.3279C>T (p.Gly1093=)
c.3174C>T (p.Gly1058=)
c.3171C>T (p.Gly1057=)
c.3138C>T (p.Gly1046=)
c.2988C>T (p.Gly996=)
c.2472C>T (p.Gly824=)
n.3602C>T
c.3411C>T (p.Gly1137=)
c.3243C>T (p.Gly1081=)
c.2970C>T (p.Gly990=)
c.2820C>T (p.Gly940=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.208326241G>ACA350115521PIKFYVEc.3430G>A (p.Asp1144Asn)
c.3262G>A (p.Asp1088Asn)
c.3466G>A (p.Asp1156Asn)
c.3463G>A (p.Asp1155Asn)
c.3448G>A (p.Asp1150Asn)
c.3298G>A (p.Asp1100Asn)
c.3295G>A (p.Asp1099Asn)
c.3280G>A (p.Asp1094Asn)
c.3175G>A (p.Asp1059Asn)
c.3172G>A (p.Asp1058Asn)
c.3139G>A (p.Asp1047Asn)
c.2989G>A (p.Asp997Asn)
c.2473G>A (p.Asp825Asn)
n.3603G>A
c.3412G>A (p.Asp1138Asn)
c.3244G>A (p.Asp1082Asn)
c.2971G>A (p.Asp991Asn)
c.2821G>A (p.Asp941Asn)
 gnomAD v4
2g.208326241G>CCA350115522PIKFYVEc.3430G>C (p.Asp1144His)
c.3262G>C (p.Asp1088His)
c.3466G>C (p.Asp1156His)
c.3463G>C (p.Asp1155His)
c.3448G>C (p.Asp1150His)
c.3298G>C (p.Asp1100His)
c.3295G>C (p.Asp1099His)
c.3280G>C (p.Asp1094His)
c.3175G>C (p.Asp1059His)
c.3172G>C (p.Asp1058His)
c.3139G>C (p.Asp1047His)
c.2989G>C (p.Asp997His)
c.2473G>C (p.Asp825His)
n.3603G>C
c.3412G>C (p.Asp1138His)
c.3244G>C (p.Asp1082His)
c.2971G>C (p.Asp991His)
c.2821G>C (p.Asp941His)
2g.208326241G>TCA350115523PIKFYVEc.3430G>T (p.Asp1144Tyr)
c.3262G>T (p.Asp1088Tyr)
c.3466G>T (p.Asp1156Tyr)
c.3463G>T (p.Asp1155Tyr)
c.3448G>T (p.Asp1150Tyr)
c.3298G>T (p.Asp1100Tyr)
c.3295G>T (p.Asp1099Tyr)
c.3280G>T (p.Asp1094Tyr)
c.3175G>T (p.Asp1059Tyr)
c.3172G>T (p.Asp1058Tyr)
c.3139G>T (p.Asp1047Tyr)
c.2989G>T (p.Asp997Tyr)
c.2473G>T (p.Asp825Tyr)
n.3603G>T
c.3412G>T (p.Asp1138Tyr)
c.3244G>T (p.Asp1082Tyr)
c.2971G>T (p.Asp991Tyr)
c.2821G>T (p.Asp941Tyr)
 gnomAD v4
2g.208326242A=CA1324023427PIKFYVEc.3431A= (p.Asp1144=)
c.3263A= (p.Asp1088=)
c.3467A= (p.Asp1156=)
c.3464A= (p.Asp1155=)
c.3449A= (p.Asp1150=)
c.3299A= (p.Asp1100=)
c.3296A= (p.Asp1099=)
c.3281A= (p.Asp1094=)
c.3176A= (p.Asp1059=)
c.3173A= (p.Asp1058=)
c.3140A= (p.Asp1047=)
c.2990A= (p.Asp997=)
c.2474A= (p.Asp825=)
n.3604A=
c.3413A= (p.Asp1138=)
c.3245A= (p.Asp1082=)
c.2972A= (p.Asp991=)
c.2822A= (p.Asp941=)
2g.208326242A>CCA350115525PIKFYVEc.3431A>C (p.Asp1144Ala)
c.3263A>C (p.Asp1088Ala)
c.3467A>C (p.Asp1156Ala)
c.3464A>C (p.Asp1155Ala)
c.3449A>C (p.Asp1150Ala)
c.3299A>C (p.Asp1100Ala)
c.3296A>C (p.Asp1099Ala)
c.3281A>C (p.Asp1094Ala)
c.3176A>C (p.Asp1059Ala)
c.3173A>C (p.Asp1058Ala)
c.3140A>C (p.Asp1047Ala)
c.2990A>C (p.Asp997Ala)
c.2474A>C (p.Asp825Ala)
n.3604A>C
c.3413A>C (p.Asp1138Ala)
c.3245A>C (p.Asp1082Ala)
c.2972A>C (p.Asp991Ala)
c.2822A>C (p.Asp941Ala)
2g.208326242A>GCA2080033PIKFYVEc.3431A>G (p.Asp1144Gly)
c.3263A>G (p.Asp1088Gly)
c.3467A>G (p.Asp1156Gly)
c.3464A>G (p.Asp1155Gly)
c.3449A>G (p.Asp1150Gly)
c.3299A>G (p.Asp1100Gly)
c.3296A>G (p.Asp1099Gly)
c.3281A>G (p.Asp1094Gly)
c.3176A>G (p.Asp1059Gly)
c.3173A>G (p.Asp1058Gly)
c.3140A>G (p.Asp1047Gly)
c.2990A>G (p.Asp997Gly)
c.2474A>G (p.Asp825Gly)
n.3604A>G
c.3413A>G (p.Asp1138Gly)
c.3245A>G (p.Asp1082Gly)
c.2972A>G (p.Asp991Gly)
c.2822A>G (p.Asp941Gly)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.208326242A>TCA350115524PIKFYVEc.3431A>T (p.Asp1144Val)
c.3263A>T (p.Asp1088Val)
c.3467A>T (p.Asp1156Val)
c.3464A>T (p.Asp1155Val)
c.3449A>T (p.Asp1150Val)
c.3299A>T (p.Asp1100Val)
c.3296A>T (p.Asp1099Val)
c.3281A>T (p.Asp1094Val)
c.3176A>T (p.Asp1059Val)
c.3173A>T (p.Asp1058Val)
c.3140A>T (p.Asp1047Val)
c.2990A>T (p.Asp997Val)
c.2474A>T (p.Asp825Val)
n.3604A>T
c.3413A>T (p.Asp1138Val)
c.3245A>T (p.Asp1082Val)
c.2972A>T (p.Asp991Val)
c.2822A>T (p.Asp941Val)
2g.208326243T>ACA350115526PIKFYVEc.3432T>A (p.Asp1144Glu)
c.3264T>A (p.Asp1088Glu)
c.3468T>A (p.Asp1156Glu)
c.3465T>A (p.Asp1155Glu)
c.3450T>A (p.Asp1150Glu)
c.3300T>A (p.Asp1100Glu)
c.3297T>A (p.Asp1099Glu)
c.3282T>A (p.Asp1094Glu)
c.3177T>A (p.Asp1059Glu)
c.3174T>A (p.Asp1058Glu)
c.3141T>A (p.Asp1047Glu)
c.2991T>A (p.Asp997Glu)
c.2475T>A (p.Asp825Glu)
n.3605T>A
c.3414T>A (p.Asp1138Glu)
c.3246T>A (p.Asp1082Glu)
c.2973T>A (p.Asp991Glu)
c.2823T>A (p.Asp941Glu)
2g.208326243T>CCA431117737PIKFYVEc.3432T>C (p.Asp1144=)
c.3264T>C (p.Asp1088=)
c.3468T>C (p.Asp1156=)
c.3465T>C (p.Asp1155=)
c.3450T>C (p.Asp1150=)
c.3300T>C (p.Asp1100=)
c.3297T>C (p.Asp1099=)
c.3282T>C (p.Asp1094=)
c.3177T>C (p.Asp1059=)
c.3174T>C (p.Asp1058=)
c.3141T>C (p.Asp1047=)
c.2991T>C (p.Asp997=)
c.2475T>C (p.Asp825=)
n.3605T>C
c.3414T>C (p.Asp1138=)
c.3246T>C (p.Asp1082=)
c.2973T>C (p.Asp991=)
c.2823T>C (p.Asp941=)
 dbSNP gnomAD v2 gnomAD v4
2g.208326243T>GCA350115527PIKFYVEc.3432T>G (p.Asp1144Glu)
c.3264T>G (p.Asp1088Glu)
c.3468T>G (p.Asp1156Glu)
c.3465T>G (p.Asp1155Glu)
c.3450T>G (p.Asp1150Glu)
c.3300T>G (p.Asp1100Glu)
c.3297T>G (p.Asp1099Glu)
c.3282T>G (p.Asp1094Glu)
c.3177T>G (p.Asp1059Glu)
c.3174T>G (p.Asp1058Glu)
c.3141T>G (p.Asp1047Glu)
c.2991T>G (p.Asp997Glu)
c.2475T>G (p.Asp825Glu)
n.3605T>G
c.3414T>G (p.Asp1138Glu)
c.3246T>G (p.Asp1082Glu)
c.2973T>G (p.Asp991Glu)
c.2823T>G (p.Asp941Glu)
2g.208326243T=CA1324023428PIKFYVEc.3432T= (p.Asp1144=)
c.3264T= (p.Asp1088=)
c.3468T= (p.Asp1156=)
c.3465T= (p.Asp1155=)
c.3450T= (p.Asp1150=)
c.3300T= (p.Asp1100=)
c.3297T= (p.Asp1099=)
c.3282T= (p.Asp1094=)
c.3177T= (p.Asp1059=)
c.3174T= (p.Asp1058=)
c.3141T= (p.Asp1047=)
c.2991T= (p.Asp997=)
c.2475T= (p.Asp825=)
n.3605T=
c.3414T= (p.Asp1138=)
c.3246T= (p.Asp1082=)
c.2973T= (p.Asp991=)
c.2823T= (p.Asp941=)
2g.208326244A>CCA350115528PIKFYVEc.3433A>C (p.Ser1145Arg)
c.3265A>C (p.Ser1089Arg)
c.3469A>C (p.Ser1157Arg)
c.3466A>C (p.Ser1156Arg)
c.3451A>C (p.Ser1151Arg)
c.3301A>C (p.Ser1101Arg)
c.3298A>C (p.Ser1100Arg)
c.3283A>C (p.Ser1095Arg)
c.3178A>C (p.Ser1060Arg)
c.3175A>C (p.Ser1059Arg)
c.3142A>C (p.Ser1048Arg)
c.2992A>C (p.Ser998Arg)
c.2476A>C (p.Ser826Arg)
n.3606A>C
c.3415A>C (p.Ser1139Arg)
c.3247A>C (p.Ser1083Arg)
c.2974A>C (p.Ser992Arg)
c.2824A>C (p.Ser942Arg)
2g.208326244A>GCA350115529PIKFYVEc.3433A>G (p.Ser1145Gly)
c.3265A>G (p.Ser1089Gly)
c.3469A>G (p.Ser1157Gly)
c.3466A>G (p.Ser1156Gly)
c.3451A>G (p.Ser1151Gly)
c.3301A>G (p.Ser1101Gly)
c.3298A>G (p.Ser1100Gly)
c.3283A>G (p.Ser1095Gly)
c.3178A>G (p.Ser1060Gly)
c.3175A>G (p.Ser1059Gly)
c.3142A>G (p.Ser1048Gly)
c.2992A>G (p.Ser998Gly)
c.2476A>G (p.Ser826Gly)
n.3606A>G
c.3415A>G (p.Ser1139Gly)
c.3247A>G (p.Ser1083Gly)
c.2974A>G (p.Ser992Gly)
c.2824A>G (p.Ser942Gly)
2g.208326244A>TCA350115530PIKFYVEc.3433A>T (p.Ser1145Cys)
c.3265A>T (p.Ser1089Cys)
c.3469A>T (p.Ser1157Cys)
c.3466A>T (p.Ser1156Cys)
c.3451A>T (p.Ser1151Cys)
c.3301A>T (p.Ser1101Cys)
c.3298A>T (p.Ser1100Cys)
c.3283A>T (p.Ser1095Cys)
c.3178A>T (p.Ser1060Cys)
c.3175A>T (p.Ser1059Cys)
c.3142A>T (p.Ser1048Cys)
c.2992A>T (p.Ser998Cys)
c.2476A>T (p.Ser826Cys)
n.3606A>T
c.3415A>T (p.Ser1139Cys)
c.3247A>T (p.Ser1083Cys)
c.2974A>T (p.Ser992Cys)
c.2824A>T (p.Ser942Cys)
2g.208326245G>ACA350115531PIKFYVEc.3434G>A (p.Ser1145Asn)
c.3266G>A (p.Ser1089Asn)
c.3470G>A (p.Ser1157Asn)
c.3467G>A (p.Ser1156Asn)
c.3452G>A (p.Ser1151Asn)
c.3302G>A (p.Ser1101Asn)
c.3299G>A (p.Ser1100Asn)
c.3284G>A (p.Ser1095Asn)
c.3179G>A (p.Ser1060Asn)
c.3176G>A (p.Ser1059Asn)
c.3143G>A (p.Ser1048Asn)
c.2993G>A (p.Ser998Asn)
c.2477G>A (p.Ser826Asn)
n.3607G>A
c.3416G>A (p.Ser1139Asn)
c.3248G>A (p.Ser1083Asn)
c.2975G>A (p.Ser992Asn)
c.2825G>A (p.Ser942Asn)
2g.208326245G>CCA350115532PIKFYVEc.3434G>C (p.Ser1145Thr)
c.3266G>C (p.Ser1089Thr)
c.3470G>C (p.Ser1157Thr)
c.3467G>C (p.Ser1156Thr)
c.3452G>C (p.Ser1151Thr)
c.3302G>C (p.Ser1101Thr)
c.3299G>C (p.Ser1100Thr)
c.3284G>C (p.Ser1095Thr)
c.3179G>C (p.Ser1060Thr)
c.3176G>C (p.Ser1059Thr)
c.3143G>C (p.Ser1048Thr)
c.2993G>C (p.Ser998Thr)
c.2477G>C (p.Ser826Thr)
n.3607G>C
c.3416G>C (p.Ser1139Thr)
c.3248G>C (p.Ser1083Thr)
c.2975G>C (p.Ser992Thr)
c.2825G>C (p.Ser942Thr)
2g.208326245G=CA1324023429PIKFYVEc.3434G= (p.Ser1145=)
c.3266G= (p.Ser1089=)
c.3470G= (p.Ser1157=)
c.3467G= (p.Ser1156=)
c.3452G= (p.Ser1151=)
c.3302G= (p.Ser1101=)
c.3299G= (p.Ser1100=)
c.3284G= (p.Ser1095=)
c.3179G= (p.Ser1060=)
c.3176G= (p.Ser1059=)
c.3143G= (p.Ser1048=)
c.2993G= (p.Ser998=)
c.2477G= (p.Ser826=)
n.3607G=
c.3416G= (p.Ser1139=)
c.3248G= (p.Ser1083=)
c.2975G= (p.Ser992=)
c.2825G= (p.Ser942=)
2g.208326245G>TCA350115533PIKFYVEc.3434G>T (p.Ser1145Ile)
c.3266G>T (p.Ser1089Ile)
c.3470G>T (p.Ser1157Ile)
c.3467G>T (p.Ser1156Ile)
c.3452G>T (p.Ser1151Ile)
c.3302G>T (p.Ser1101Ile)
c.3299G>T (p.Ser1100Ile)
c.3284G>T (p.Ser1095Ile)
c.3179G>T (p.Ser1060Ile)
c.3176G>T (p.Ser1059Ile)
c.3143G>T (p.Ser1048Ile)
c.2993G>T (p.Ser998Ile)
c.2477G>T (p.Ser826Ile)
n.3607G>T
c.3416G>T (p.Ser1139Ile)
c.3248G>T (p.Ser1083Ile)
c.2975G>T (p.Ser992Ile)
c.2825G>T (p.Ser942Ile)
2g.208326246C>ACA350115534PIKFYVEc.3435C>A (p.Ser1145Arg)
c.3267C>A (p.Ser1089Arg)
c.3471C>A (p.Ser1157Arg)
c.3468C>A (p.Ser1156Arg)
c.3453C>A (p.Ser1151Arg)
c.3303C>A (p.Ser1101Arg)
c.3300C>A (p.Ser1100Arg)
c.3285C>A (p.Ser1095Arg)
c.3180C>A (p.Ser1060Arg)
c.3177C>A (p.Ser1059Arg)
c.3144C>A (p.Ser1048Arg)
c.2994C>A (p.Ser998Arg)
c.2478C>A (p.Ser826Arg)
n.3608C>A
c.3417C>A (p.Ser1139Arg)
c.3249C>A (p.Ser1083Arg)
c.2976C>A (p.Ser992Arg)
c.2826C>A (p.Ser942Arg)
2g.208326246C>GCA350115535PIKFYVEc.3435C>G (p.Ser1145Arg)
c.3267C>G (p.Ser1089Arg)
c.3471C>G (p.Ser1157Arg)
c.3468C>G (p.Ser1156Arg)
c.3453C>G (p.Ser1151Arg)
c.3303C>G (p.Ser1101Arg)
c.3300C>G (p.Ser1100Arg)
c.3285C>G (p.Ser1095Arg)
c.3180C>G (p.Ser1060Arg)
c.3177C>G (p.Ser1059Arg)
c.3144C>G (p.Ser1048Arg)
c.2994C>G (p.Ser998Arg)
c.2478C>G (p.Ser826Arg)
n.3608C>G
c.3417C>G (p.Ser1139Arg)
c.3249C>G (p.Ser1083Arg)
c.2976C>G (p.Ser992Arg)
c.2826C>G (p.Ser942Arg)
2g.208326246C>TCA431117747PIKFYVEc.3435C>T (p.Ser1145=)
c.3267C>T (p.Ser1089=)
c.3471C>T (p.Ser1157=)
c.3468C>T (p.Ser1156=)
c.3453C>T (p.Ser1151=)
c.3303C>T (p.Ser1101=)
c.3300C>T (p.Ser1100=)
c.3285C>T (p.Ser1095=)
c.3180C>T (p.Ser1060=)
c.3177C>T (p.Ser1059=)
c.3144C>T (p.Ser1048=)
c.2994C>T (p.Ser998=)
c.2478C>T (p.Ser826=)
n.3608C>T
c.3417C>T (p.Ser1139=)
c.3249C>T (p.Ser1083=)
c.2976C>T (p.Ser992=)
c.2826C>T (p.Ser942=)
2g.208326246_208326247insTGGCCCA2080034PIKFYVEc.3435_3436insTGGCC (p.Gln1146TrpfsTer?)
c.3267_3268insTGGCC (p.Gln1090TrpfsTer?)
c.3471_3472insTGGCC (p.Gln1158TrpfsTer?)
c.3468_3469insTGGCC (p.Gln1157TrpfsTer?)
c.3453_3454insTGGCC (p.Gln1152TrpfsTer?)
c.3303_3304insTGGCC (p.Gln1102TrpfsTer?)
c.3300_3301insTGGCC (p.Gln1101TrpfsTer?)
c.3285_3286insTGGCC (p.Gln1096TrpfsTer?)
c.3180_3181insTGGCC (p.Gln1061TrpfsTer?)
c.3177_3178insTGGCC (p.Gln1060TrpfsTer?)
c.3144_3145insTGGCC (p.Gln1049TrpfsTer?)
c.2994_2995insTGGCC (p.Gln999TrpfsTer?)
c.2478_2479insTGGCC (p.Gln827TrpfsTer?)
n.3608_3609insTGGCC
c.3417_3418insTGGCC (p.Gln1140TrpfsTer?)
c.3249_3250insTGGCC (p.Gln1084TrpfsTer?)
c.2976_2977insTGGCC (p.Gln993TrpfsTer?)
c.2826_2827insTGGCC (p.Gln943TrpfsTer?)
 dbSNP ExAC gnomAD v2
2g.208326246_208326247insTGGCA2577226691PIKFYVEc.3435_3436insTGG (p.Ser1145_Gln1146insTrp)
c.3267_3268insTGG (p.Ser1089_Gln1090insTrp)
c.3471_3472insTGG (p.Ser1157_Gln1158insTrp)
c.3468_3469insTGG (p.Ser1156_Gln1157insTrp)
c.3453_3454insTGG (p.Ser1151_Gln1152insTrp)
c.3303_3304insTGG (p.Ser1101_Gln1102insTrp)
c.3300_3301insTGG (p.Ser1100_Gln1101insTrp)
c.3285_3286insTGG (p.Ser1095_Gln1096insTrp)
c.3180_3181insTGG (p.Ser1060_Gln1061insTrp)
c.3177_3178insTGG (p.Ser1059_Gln1060insTrp)
c.3144_3145insTGG (p.Ser1048_Gln1049insTrp)
c.2994_2995insTGG (p.Ser998_Gln999insTrp)
c.2478_2479insTGG (p.Ser826_Gln827insTrp)
n.3608_3609insTGG
c.3417_3418insTGG (p.Ser1139_Gln1140insTrp)
c.3249_3250insTGG (p.Ser1083_Gln1084insTrp)
c.2976_2977insTGG (p.Ser992_Gln993insTrp)
c.2826_2827insTGG (p.Ser942_Gln943insTrp)
2g.208326247C>ACA350115537PIKFYVEc.3436C>A (p.Gln1146Lys)
c.3268C>A (p.Gln1090Lys)
c.3472C>A (p.Gln1158Lys)
c.3469C>A (p.Gln1157Lys)
c.3454C>A (p.Gln1152Lys)
c.3304C>A (p.Gln1102Lys)
c.3301C>A (p.Gln1101Lys)
c.3286C>A (p.Gln1096Lys)
c.3181C>A (p.Gln1061Lys)
c.3178C>A (p.Gln1060Lys)
c.3145C>A (p.Gln1049Lys)
c.2995C>A (p.Gln999Lys)
c.2479C>A (p.Gln827Lys)
n.3609C>A
c.3418C>A (p.Gln1140Lys)
c.3250C>A (p.Gln1084Lys)
c.2977C>A (p.Gln993Lys)
c.2827C>A (p.Gln943Lys)
2g.208326247C>GCA350115538PIKFYVEc.3436C>G (p.Gln1146Glu)
c.3268C>G (p.Gln1090Glu)
c.3472C>G (p.Gln1158Glu)
c.3469C>G (p.Gln1157Glu)
c.3454C>G (p.Gln1152Glu)
c.3304C>G (p.Gln1102Glu)
c.3301C>G (p.Gln1101Glu)
c.3286C>G (p.Gln1096Glu)
c.3181C>G (p.Gln1061Glu)
c.3178C>G (p.Gln1060Glu)
c.3145C>G (p.Gln1049Glu)
c.2995C>G (p.Gln999Glu)
c.2479C>G (p.Gln827Glu)
n.3609C>G
c.3418C>G (p.Gln1140Glu)
c.3250C>G (p.Gln1084Glu)
c.2977C>G (p.Gln993Glu)
c.2827C>G (p.Gln943Glu)
2g.208326247C>TCA350115536PIKFYVEc.3436C>T (p.Gln1146Ter)
c.3268C>T (p.Gln1090Ter)
c.3472C>T (p.Gln1158Ter)
c.3469C>T (p.Gln1157Ter)
c.3454C>T (p.Gln1152Ter)
c.3304C>T (p.Gln1102Ter)
c.3301C>T (p.Gln1101Ter)
c.3286C>T (p.Gln1096Ter)
c.3181C>T (p.Gln1061Ter)
c.3178C>T (p.Gln1060Ter)
c.3145C>T (p.Gln1049Ter)
c.2995C>T (p.Gln999Ter)
c.2479C>T (p.Gln827Ter)
n.3609C>T
c.3418C>T (p.Gln1140Ter)
c.3250C>T (p.Gln1084Ter)
c.2977C>T (p.Gln993Ter)
c.2827C>T (p.Gln943Ter)
2g.208326247_208326249delinsCAGCA1324023430PIKFYVEc.3436_3438delinsCAG (p.Gln1146=)
c.3268_3270delinsCAG (p.Gln1090=)
c.3472_3474delinsCAG (p.Gln1158=)
c.3469_3471delinsCAG (p.Gln1157=)
c.3454_3456delinsCAG (p.Gln1152=)
c.3304_3306delinsCAG (p.Gln1102=)
c.3301_3303delinsCAG (p.Gln1101=)
c.3286_3288delinsCAG (p.Gln1096=)
c.3181_3183delinsCAG (p.Gln1061=)
c.3178_3180delinsCAG (p.Gln1060=)
c.3145_3147delinsCAG (p.Gln1049=)
c.2995_2997delinsCAG (p.Gln999=)
c.2479_2481delinsCAG (p.Gln827=)
n.3609_3611delinsCAG
c.3418_3420delinsCAG (p.Gln1140=)
c.3250_3252delinsCAG (p.Gln1084=)
c.2977_2979delinsCAG (p.Gln993=)
c.2827_2829delinsCAG (p.Gln943=)
2g.208326248A=CA1324023431PIKFYVEc.3437A= (p.Gln1146=)
c.3269A= (p.Gln1090=)
c.3473A= (p.Gln1158=)
c.3470A= (p.Gln1157=)
c.3455A= (p.Gln1152=)
c.3305A= (p.Gln1102=)
c.3302A= (p.Gln1101=)
c.3287A= (p.Gln1096=)
c.3182A= (p.Gln1061=)
c.3179A= (p.Gln1060=)
c.3146A= (p.Gln1049=)
c.2996A= (p.Gln999=)
c.2480A= (p.Gln827=)
n.3610A=
c.3419A= (p.Gln1140=)
c.3251A= (p.Gln1084=)
c.2978A= (p.Gln993=)
c.2828A= (p.Gln943=)
2g.208326248A>CCA350115539PIKFYVEc.3437A>C (p.Gln1146Pro)
c.3269A>C (p.Gln1090Pro)
c.3473A>C (p.Gln1158Pro)
c.3470A>C (p.Gln1157Pro)
c.3455A>C (p.Gln1152Pro)
c.3305A>C (p.Gln1102Pro)
c.3302A>C (p.Gln1101Pro)
c.3287A>C (p.Gln1096Pro)
c.3182A>C (p.Gln1061Pro)
c.3179A>C (p.Gln1060Pro)
c.3146A>C (p.Gln1049Pro)
c.2996A>C (p.Gln999Pro)
c.2480A>C (p.Gln827Pro)
n.3610A>C
c.3419A>C (p.Gln1140Pro)
c.3251A>C (p.Gln1084Pro)
c.2978A>C (p.Gln993Pro)
c.2828A>C (p.Gln943Pro)
2g.208326248A>GCA2080036PIKFYVEc.3437A>G (p.Gln1146Arg)
c.3269A>G (p.Gln1090Arg)
c.3473A>G (p.Gln1158Arg)
c.3470A>G (p.Gln1157Arg)
c.3455A>G (p.Gln1152Arg)
c.3305A>G (p.Gln1102Arg)
c.3302A>G (p.Gln1101Arg)
c.3287A>G (p.Gln1096Arg)
c.3182A>G (p.Gln1061Arg)
c.3179A>G (p.Gln1060Arg)
c.3146A>G (p.Gln1049Arg)
c.2996A>G (p.Gln999Arg)
c.2480A>G (p.Gln827Arg)
n.3610A>G
c.3419A>G (p.Gln1140Arg)
c.3251A>G (p.Gln1084Arg)
c.2978A>G (p.Gln993Arg)
c.2828A>G (p.Gln943Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.208326248A>TCA350115540PIKFYVEc.3437A>T (p.Gln1146Leu)
c.3269A>T (p.Gln1090Leu)
c.3473A>T (p.Gln1158Leu)
c.3470A>T (p.Gln1157Leu)
c.3455A>T (p.Gln1152Leu)
c.3305A>T (p.Gln1102Leu)
c.3302A>T (p.Gln1101Leu)
c.3287A>T (p.Gln1096Leu)
c.3182A>T (p.Gln1061Leu)
c.3179A>T (p.Gln1060Leu)
c.3146A>T (p.Gln1049Leu)
c.2996A>T (p.Gln999Leu)
c.2480A>T (p.Gln827Leu)
n.3610A>T
c.3419A>T (p.Gln1140Leu)
c.3251A>T (p.Gln1084Leu)
c.2978A>T (p.Gln993Leu)
c.2828A>T (p.Gln943Leu)
2g.208326250_208326251delCA2080035PIKFYVEc.3439_3440del (p.Ser1147LeufsTer3)
c.3271_3272del (p.Ser1091LeufsTer3)
c.3475_3476del (p.Ser1159LeufsTer3)
c.3472_3473del (p.Ser1158LeufsTer3)
c.3457_3458del (p.Ser1153LeufsTer3)
c.3307_3308del (p.Ser1103LeufsTer3)
c.3304_3305del (p.Ser1102LeufsTer3)
c.3289_3290del (p.Ser1097LeufsTer3)
c.3184_3185del (p.Ser1062LeufsTer3)
c.3181_3182del (p.Ser1061LeufsTer3)
c.3148_3149del (p.Ser1050LeufsTer3)
c.2998_2999del (p.Ser1000LeufsTer3)
c.2482_2483del (p.Ser828LeufsTer3)
n.3612_3613del
c.3421_3422del (p.Ser1141LeufsTer3)
c.3253_3254del (p.Ser1085LeufsTer3)
c.2980_2981del (p.Ser994LeufsTer3)
c.2830_2831del (p.Ser944LeufsTer3)
 dbSNP ExAC gnomAD v2
2g.208326249G>ACA431117758PIKFYVEc.3438G>A (p.Gln1146=)
c.3270G>A (p.Gln1090=)
c.3474G>A (p.Gln1158=)
c.3471G>A (p.Gln1157=)
c.3456G>A (p.Gln1152=)
c.3306G>A (p.Gln1102=)
c.3303G>A (p.Gln1101=)
c.3288G>A (p.Gln1096=)
c.3183G>A (p.Gln1061=)
c.3180G>A (p.Gln1060=)
c.3147G>A (p.Gln1049=)
c.2997G>A (p.Gln999=)
c.2481G>A (p.Gln827=)
n.3611G>A
c.3420G>A (p.Gln1140=)
c.3252G>A (p.Gln1084=)
c.2979G>A (p.Gln993=)
c.2829G>A (p.Gln943=)
2g.208326249G>CCA350115541PIKFYVEc.3438G>C (p.Gln1146His)
c.3270G>C (p.Gln1090His)
c.3474G>C (p.Gln1158His)
c.3471G>C (p.Gln1157His)
c.3456G>C (p.Gln1152His)
c.3306G>C (p.Gln1102His)
c.3303G>C (p.Gln1101His)
c.3288G>C (p.Gln1096His)
c.3183G>C (p.Gln1061His)
c.3180G>C (p.Gln1060His)
c.3147G>C (p.Gln1049His)
c.2997G>C (p.Gln999His)
c.2481G>C (p.Gln827His)
n.3611G>C
c.3420G>C (p.Gln1140His)
c.3252G>C (p.Gln1084His)
c.2979G>C (p.Gln993His)
c.2829G>C (p.Gln943His)
2g.208326249G=CA1324023432PIKFYVEc.3438G= (p.Gln1146=)
c.3270G= (p.Gln1090=)
c.3474G= (p.Gln1158=)
c.3471G= (p.Gln1157=)
c.3456G= (p.Gln1152=)
c.3306G= (p.Gln1102=)
c.3303G= (p.Gln1101=)
c.3288G= (p.Gln1096=)
c.3183G= (p.Gln1061=)
c.3180G= (p.Gln1060=)
c.3147G= (p.Gln1049=)
c.2997G= (p.Gln999=)
c.2481G= (p.Gln827=)
n.3611G=
c.3420G= (p.Gln1140=)
c.3252G= (p.Gln1084=)
c.2979G= (p.Gln993=)
c.2829G= (p.Gln943=)
2g.208326249G>TCA350115542PIKFYVEc.3438G>T (p.Gln1146His)
c.3270G>T (p.Gln1090His)
c.3474G>T (p.Gln1158His)
c.3471G>T (p.Gln1157His)
c.3456G>T (p.Gln1152His)
c.3306G>T (p.Gln1102His)
c.3303G>T (p.Gln1101His)
c.3288G>T (p.Gln1096His)
c.3183G>T (p.Gln1061His)
c.3180G>T (p.Gln1060His)
c.3147G>T (p.Gln1049His)
c.2997G>T (p.Gln999His)
c.2481G>T (p.Gln827His)
n.3611G>T
c.3420G>T (p.Gln1140His)
c.3252G>T (p.Gln1084His)
c.2979G>T (p.Gln993His)
c.2829G>T (p.Gln943His)
 dbSNP gnomAD v2 gnomAD v4
2g.208326250A=CA1324023433PIKFYVEc.3439A= (p.Ser1147=)
c.3271A= (p.Ser1091=)
c.3475A= (p.Ser1159=)
c.3472A= (p.Ser1158=)
c.3457A= (p.Ser1153=)
c.3307A= (p.Ser1103=)
c.3304A= (p.Ser1102=)
c.3289A= (p.Ser1097=)
c.3184A= (p.Ser1062=)
c.3181A= (p.Ser1061=)
c.3148A= (p.Ser1050=)
c.2998A= (p.Ser1000=)
c.2482A= (p.Ser828=)
n.3612A=
c.3421A= (p.Ser1141=)
c.3253A= (p.Ser1085=)
c.2980A= (p.Ser994=)
c.2830A= (p.Ser944=)
2g.208326250A>CCA350115543PIKFYVEc.3439A>C (p.Ser1147Arg)
c.3271A>C (p.Ser1091Arg)
c.3475A>C (p.Ser1159Arg)
c.3472A>C (p.Ser1158Arg)
c.3457A>C (p.Ser1153Arg)
c.3307A>C (p.Ser1103Arg)
c.3304A>C (p.Ser1102Arg)
c.3289A>C (p.Ser1097Arg)
c.3184A>C (p.Ser1062Arg)
c.3181A>C (p.Ser1061Arg)
c.3148A>C (p.Ser1050Arg)
c.2998A>C (p.Ser1000Arg)
c.2482A>C (p.Ser828Arg)
n.3612A>C
c.3421A>C (p.Ser1141Arg)
c.3253A>C (p.Ser1085Arg)
c.2980A>C (p.Ser994Arg)
c.2830A>C (p.Ser944Arg)
 dbSNP gnomAD v4
2g.208326250A>GCA350115545PIKFYVEc.3439A>G (p.Ser1147Gly)
c.3271A>G (p.Ser1091Gly)
c.3475A>G (p.Ser1159Gly)
c.3472A>G (p.Ser1158Gly)
c.3457A>G (p.Ser1153Gly)
c.3307A>G (p.Ser1103Gly)
c.3304A>G (p.Ser1102Gly)
c.3289A>G (p.Ser1097Gly)
c.3184A>G (p.Ser1062Gly)
c.3181A>G (p.Ser1061Gly)
c.3148A>G (p.Ser1050Gly)
c.2998A>G (p.Ser1000Gly)
c.2482A>G (p.Ser828Gly)
n.3612A>G
c.3421A>G (p.Ser1141Gly)
c.3253A>G (p.Ser1085Gly)
c.2980A>G (p.Ser994Gly)
c.2830A>G (p.Ser944Gly)
2g.208326250A>TCA350115544PIKFYVEc.3439A>T (p.Ser1147Cys)
c.3271A>T (p.Ser1091Cys)
c.3475A>T (p.Ser1159Cys)
c.3472A>T (p.Ser1158Cys)
c.3457A>T (p.Ser1153Cys)
c.3307A>T (p.Ser1103Cys)
c.3304A>T (p.Ser1102Cys)
c.3289A>T (p.Ser1097Cys)
c.3184A>T (p.Ser1062Cys)
c.3181A>T (p.Ser1061Cys)
c.3148A>T (p.Ser1050Cys)
c.2998A>T (p.Ser1000Cys)
c.2482A>T (p.Ser828Cys)
n.3612A>T
c.3421A>T (p.Ser1141Cys)
c.3253A>T (p.Ser1085Cys)
c.2980A>T (p.Ser994Cys)
c.2830A>T (p.Ser944Cys)
2g.208326251G>ACA350115546PIKFYVEc.3440G>A (p.Ser1147Asn)
c.3272G>A (p.Ser1091Asn)
c.3476G>A (p.Ser1159Asn)
c.3473G>A (p.Ser1158Asn)
c.3458G>A (p.Ser1153Asn)
c.3308G>A (p.Ser1103Asn)
c.3305G>A (p.Ser1102Asn)
c.3290G>A (p.Ser1097Asn)
c.3185G>A (p.Ser1062Asn)
c.3182G>A (p.Ser1061Asn)
c.3149G>A (p.Ser1050Asn)
c.2999G>A (p.Ser1000Asn)
c.2483G>A (p.Ser828Asn)
n.3613G>A
c.3422G>A (p.Ser1141Asn)
c.3254G>A (p.Ser1085Asn)
c.2981G>A (p.Ser994Asn)
c.2831G>A (p.Ser944Asn)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.208326251G>CCA350115547PIKFYVEc.3440G>C (p.Ser1147Thr)
c.3272G>C (p.Ser1091Thr)
c.3476G>C (p.Ser1159Thr)
c.3473G>C (p.Ser1158Thr)
c.3458G>C (p.Ser1153Thr)
c.3308G>C (p.Ser1103Thr)
c.3305G>C (p.Ser1102Thr)
c.3290G>C (p.Ser1097Thr)
c.3185G>C (p.Ser1062Thr)
c.3182G>C (p.Ser1061Thr)
c.3149G>C (p.Ser1050Thr)
c.2999G>C (p.Ser1000Thr)
c.2483G>C (p.Ser828Thr)
n.3613G>C
c.3422G>C (p.Ser1141Thr)
c.3254G>C (p.Ser1085Thr)
c.2981G>C (p.Ser994Thr)
c.2831G>C (p.Ser944Thr)
2g.208326251G=CA1324023434PIKFYVEc.3440G= (p.Ser1147=)
c.3272G= (p.Ser1091=)
c.3476G= (p.Ser1159=)
c.3473G= (p.Ser1158=)
c.3458G= (p.Ser1153=)
c.3308G= (p.Ser1103=)
c.3305G= (p.Ser1102=)
c.3290G= (p.Ser1097=)
c.3185G= (p.Ser1062=)
c.3182G= (p.Ser1061=)
c.3149G= (p.Ser1050=)
c.2999G= (p.Ser1000=)
c.2483G= (p.Ser828=)
n.3613G=
c.3422G= (p.Ser1141=)
c.3254G= (p.Ser1085=)
c.2981G= (p.Ser994=)
c.2831G= (p.Ser944=)
2g.208326251G>TCA350115548PIKFYVEc.3440G>T (p.Ser1147Ile)
c.3272G>T (p.Ser1091Ile)
c.3476G>T (p.Ser1159Ile)
c.3473G>T (p.Ser1158Ile)
c.3458G>T (p.Ser1153Ile)
c.3308G>T (p.Ser1103Ile)
c.3305G>T (p.Ser1102Ile)
c.3290G>T (p.Ser1097Ile)
c.3185G>T (p.Ser1062Ile)
c.3182G>T (p.Ser1061Ile)
c.3149G>T (p.Ser1050Ile)
c.2999G>T (p.Ser1000Ile)
c.2483G>T (p.Ser828Ile)
n.3613G>T
c.3422G>T (p.Ser1141Ile)
c.3254G>T (p.Ser1085Ile)
c.2981G>T (p.Ser994Ile)
c.2831G>T (p.Ser944Ile)
 dbSNP gnomAD v3 gnomAD v4
2g.208326251_208326252insAGATCCCA1324023436PIKFYVEc.3440_3441insAGATCC (p.Ser1147delinsArgAspPro)
c.3272_3273insAGATCC (p.Ser1091delinsArgAspPro)
c.3476_3477insAGATCC (p.Ser1159delinsArgAspPro)
c.3473_3474insAGATCC (p.Ser1158delinsArgAspPro)
c.3458_3459insAGATCC (p.Ser1153delinsArgAspPro)
c.3308_3309insAGATCC (p.Ser1103delinsArgAspPro)
c.3305_3306insAGATCC (p.Ser1102delinsArgAspPro)
c.3290_3291insAGATCC (p.Ser1097delinsArgAspPro)
c.3185_3186insAGATCC (p.Ser1062delinsArgAspPro)
c.3182_3183insAGATCC (p.Ser1061delinsArgAspPro)
c.3149_3150insAGATCC (p.Ser1050delinsArgAspPro)
c.2999_3000insAGATCC (p.Ser1000delinsArgAspPro)
c.2483_2484insAGATCC (p.Ser828delinsArgAspPro)
n.3613_3614insAGATCC
c.3422_3423insAGATCC (p.Ser1141delinsArgAspPro)
c.3254_3255insAGATCC (p.Ser1085delinsArgAspPro)
c.2981_2982insAGATCC (p.Ser994delinsArgAspPro)
c.2831_2832insAGATCC (p.Ser944delinsArgAspPro)
 dbSNP
2g.208326252C>ACA350115549PIKFYVEc.3441C>A (p.Ser1147Arg)
c.3273C>A (p.Ser1091Arg)
c.3477C>A (p.Ser1159Arg)
c.3474C>A (p.Ser1158Arg)
c.3459C>A (p.Ser1153Arg)
c.3309C>A (p.Ser1103Arg)
c.3306C>A (p.Ser1102Arg)
c.3291C>A (p.Ser1097Arg)
c.3186C>A (p.Ser1062Arg)
c.3183C>A (p.Ser1061Arg)
c.3150C>A (p.Ser1050Arg)
c.3000C>A (p.Ser1000Arg)
c.2484C>A (p.Ser828Arg)
n.3614C>A
c.3423C>A (p.Ser1141Arg)
c.3255C>A (p.Ser1085Arg)
c.2982C>A (p.Ser994Arg)
c.2832C>A (p.Ser944Arg)
 gnomAD v4
2g.208326252C>GCA350115550PIKFYVEc.3441C>G (p.Ser1147Arg)
c.3273C>G (p.Ser1091Arg)
c.3477C>G (p.Ser1159Arg)
c.3474C>G (p.Ser1158Arg)
c.3459C>G (p.Ser1153Arg)
c.3309C>G (p.Ser1103Arg)
c.3306C>G (p.Ser1102Arg)
c.3291C>G (p.Ser1097Arg)
c.3186C>G (p.Ser1062Arg)
c.3183C>G (p.Ser1061Arg)
c.3150C>G (p.Ser1050Arg)
c.3000C>G (p.Ser1000Arg)
c.2484C>G (p.Ser828Arg)
n.3614C>G
c.3423C>G (p.Ser1141Arg)
c.3255C>G (p.Ser1085Arg)
c.2982C>G (p.Ser994Arg)
c.2832C>G (p.Ser944Arg)
2g.208326252C>TCA431117768PIKFYVEc.3441C>T (p.Ser1147=)
c.3273C>T (p.Ser1091=)
c.3477C>T (p.Ser1159=)
c.3474C>T (p.Ser1158=)
c.3459C>T (p.Ser1153=)
c.3309C>T (p.Ser1103=)
c.3306C>T (p.Ser1102=)
c.3291C>T (p.Ser1097=)
c.3186C>T (p.Ser1062=)
c.3183C>T (p.Ser1061=)
c.3150C>T (p.Ser1050=)
c.3000C>T (p.Ser1000=)
c.2484C>T (p.Ser828=)
n.3614C>T
c.3423C>T (p.Ser1141=)
c.3255C>T (p.Ser1085=)
c.2982C>T (p.Ser994=)
c.2832C>T (p.Ser944=)
2g.208326252_208326253delinsCTCA1324023435PIKFYVEc.3441_3442delinsCT (p.Ser1147=)
c.3273_3274delinsCT (p.Ser1091=)
c.3477_3478delinsCT (p.Ser1159=)
c.3474_3475delinsCT (p.Ser1158=)
c.3459_3460delinsCT (p.Ser1153=)
c.3309_3310delinsCT (p.Ser1103=)
c.3306_3307delinsCT (p.Ser1102=)
c.3291_3292delinsCT (p.Ser1097=)
c.3186_3187delinsCT (p.Ser1062=)
c.3183_3184delinsCT (p.Ser1061=)
c.3150_3151delinsCT (p.Ser1050=)
c.3000_3001delinsCT (p.Ser1000=)
c.2484_2485delinsCT (p.Ser828=)
n.3614_3615delinsCT
c.3423_3424delinsCT (p.Ser1141=)
c.3255_3256delinsCT (p.Ser1085=)
c.2982_2983delinsCT (p.Ser994=)
c.2832_2833delinsCT (p.Ser944=)
2g.208326253T>ACA350115551PIKFYVEc.3442T>A (p.Leu1148Met)
c.3274T>A (p.Leu1092Met)
c.3478T>A (p.Leu1160Met)
c.3475T>A (p.Leu1159Met)
c.3460T>A (p.Leu1154Met)
c.3310T>A (p.Leu1104Met)
c.3307T>A (p.Leu1103Met)
c.3292T>A (p.Leu1098Met)
c.3187T>A (p.Leu1063Met)
c.3184T>A (p.Leu1062Met)
c.3151T>A (p.Leu1051Met)
c.3001T>A (p.Leu1001Met)
c.2485T>A (p.Leu829Met)
n.3615T>A
c.3424T>A (p.Leu1142Met)
c.3256T>A (p.Leu1086Met)
c.2983T>A (p.Leu995Met)
c.2833T>A (p.Leu945Met)
2g.208326253T>CCA431117770PIKFYVEc.3442T>C (p.Leu1148=)
c.3274T>C (p.Leu1092=)
c.3478T>C (p.Leu1160=)
c.3475T>C (p.Leu1159=)
c.3460T>C (p.Leu1154=)
c.3310T>C (p.Leu1104=)
c.3307T>C (p.Leu1103=)
c.3292T>C (p.Leu1098=)
c.3187T>C (p.Leu1063=)
c.3184T>C (p.Leu1062=)
c.3151T>C (p.Leu1051=)
c.3001T>C (p.Leu1001=)
c.2485T>C (p.Leu829=)
n.3615T>C
c.3424T>C (p.Leu1142=)
c.3256T>C (p.Leu1086=)
c.2983T>C (p.Leu995=)
c.2833T>C (p.Leu945=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.208326253T>GCA350115552PIKFYVEc.3442T>G (p.Leu1148Val)
c.3274T>G (p.Leu1092Val)
c.3478T>G (p.Leu1160Val)
c.3475T>G (p.Leu1159Val)
c.3460T>G (p.Leu1154Val)
c.3310T>G (p.Leu1104Val)
c.3307T>G (p.Leu1103Val)
c.3292T>G (p.Leu1098Val)
c.3187T>G (p.Leu1063Val)
c.3184T>G (p.Leu1062Val)
c.3151T>G (p.Leu1051Val)
c.3001T>G (p.Leu1001Val)
c.2485T>G (p.Leu829Val)
n.3615T>G
c.3424T>G (p.Leu1142Val)
c.3256T>G (p.Leu1086Val)
c.2983T>G (p.Leu995Val)
c.2833T>G (p.Leu945Val)
2g.208326253T=CA1324023437PIKFYVEc.3442T= (p.Leu1148=)
c.3274T= (p.Leu1092=)
c.3478T= (p.Leu1160=)
c.3475T= (p.Leu1159=)
c.3460T= (p.Leu1154=)
c.3310T= (p.Leu1104=)
c.3307T= (p.Leu1103=)
c.3292T= (p.Leu1098=)
c.3187T= (p.Leu1063=)
c.3184T= (p.Leu1062=)
c.3151T= (p.Leu1051=)
c.3001T= (p.Leu1001=)
c.2485T= (p.Leu829=)
n.3615T=
c.3424T= (p.Leu1142=)
c.3256T= (p.Leu1086=)
c.2983T= (p.Leu995=)
c.2833T= (p.Leu945=)
2g.208326254delCA2080037PIKFYVEc.3443del (p.Leu1148TrpfsTer?)
c.3275del (p.Leu1092TrpfsTer?)
c.3479del (p.Leu1160TrpfsTer?)
c.3476del (p.Leu1159TrpfsTer?)
c.3461del (p.Leu1154TrpfsTer?)
c.3311del (p.Leu1104TrpfsTer?)
c.3308del (p.Leu1103TrpfsTer?)
c.3293del (p.Leu1098TrpfsTer?)
c.3188del (p.Leu1063TrpfsTer?)
c.3185del (p.Leu1062TrpfsTer?)
c.3152del (p.Leu1051TrpfsTer?)
c.3002del (p.Leu1001TrpfsTer?)
c.2486del (p.Leu829TrpfsTer?)
n.3616del
c.3425del (p.Leu1142TrpfsTer?)
c.3257del (p.Leu1086TrpfsTer?)
c.2984del (p.Leu995TrpfsTer?)
c.2834del (p.Leu945TrpfsTer?)
 dbSNP ExAC gnomAD v2
2g.208326254T>ACA350115554PIKFYVEc.3443T>A (p.Leu1148Ter)
c.3275T>A (p.Leu1092Ter)
c.3479T>A (p.Leu1160Ter)
c.3476T>A (p.Leu1159Ter)
c.3461T>A (p.Leu1154Ter)
c.3311T>A (p.Leu1104Ter)
c.3308T>A (p.Leu1103Ter)
c.3293T>A (p.Leu1098Ter)
c.3188T>A (p.Leu1063Ter)
c.3185T>A (p.Leu1062Ter)
c.3152T>A (p.Leu1051Ter)
c.3002T>A (p.Leu1001Ter)
c.2486T>A (p.Leu829Ter)
n.3616T>A
c.3425T>A (p.Leu1142Ter)
c.3257T>A (p.Leu1086Ter)
c.2984T>A (p.Leu995Ter)
c.2834T>A (p.Leu945Ter)
2g.208326254T>CCA350115553PIKFYVEc.3443T>C (p.Leu1148Ser)
c.3275T>C (p.Leu1092Ser)
c.3479T>C (p.Leu1160Ser)
c.3476T>C (p.Leu1159Ser)
c.3461T>C (p.Leu1154Ser)
c.3311T>C (p.Leu1104Ser)
c.3308T>C (p.Leu1103Ser)
c.3293T>C (p.Leu1098Ser)
c.3188T>C (p.Leu1063Ser)
c.3185T>C (p.Leu1062Ser)
c.3152T>C (p.Leu1051Ser)
c.3002T>C (p.Leu1001Ser)
c.2486T>C (p.Leu829Ser)
n.3616T>C
c.3425T>C (p.Leu1142Ser)
c.3257T>C (p.Leu1086Ser)
c.2984T>C (p.Leu995Ser)
c.2834T>C (p.Leu945Ser)
2g.208326254T>GCA350115555PIKFYVEc.3443T>G (p.Leu1148Trp)
c.3275T>G (p.Leu1092Trp)
c.3479T>G (p.Leu1160Trp)
c.3476T>G (p.Leu1159Trp)
c.3461T>G (p.Leu1154Trp)
c.3311T>G (p.Leu1104Trp)
c.3308T>G (p.Leu1103Trp)
c.3293T>G (p.Leu1098Trp)
c.3188T>G (p.Leu1063Trp)
c.3185T>G (p.Leu1062Trp)
c.3152T>G (p.Leu1051Trp)
c.3002T>G (p.Leu1001Trp)
c.2486T>G (p.Leu829Trp)
n.3616T>G
c.3425T>G (p.Leu1142Trp)
c.3257T>G (p.Leu1086Trp)
c.2984T>G (p.Leu995Trp)
c.2834T>G (p.Leu945Trp)
2g.208326255G>ACA431117775PIKFYVEc.3444G>A (p.Leu1148=)
c.3276G>A (p.Leu1092=)
c.3480G>A (p.Leu1160=)
c.3477G>A (p.Leu1159=)
c.3462G>A (p.Leu1154=)
c.3312G>A (p.Leu1104=)
c.3309G>A (p.Leu1103=)
c.3294G>A (p.Leu1098=)
c.3189G>A (p.Leu1063=)
c.3186G>A (p.Leu1062=)
c.3153G>A (p.Leu1051=)
c.3003G>A (p.Leu1001=)
c.2487G>A (p.Leu829=)
n.3617G>A
c.3426G>A (p.Leu1142=)
c.3258G>A (p.Leu1086=)
c.2985G>A (p.Leu995=)
c.2835G>A (p.Leu945=)
 gnomAD v4
2g.208326255G>CCA350115556PIKFYVEc.3444G>C (p.Leu1148Phe)
c.3276G>C (p.Leu1092Phe)
c.3480G>C (p.Leu1160Phe)
c.3477G>C (p.Leu1159Phe)
c.3462G>C (p.Leu1154Phe)
c.3312G>C (p.Leu1104Phe)
c.3309G>C (p.Leu1103Phe)
c.3294G>C (p.Leu1098Phe)
c.3189G>C (p.Leu1063Phe)
c.3186G>C (p.Leu1062Phe)
c.3153G>C (p.Leu1051Phe)
c.3003G>C (p.Leu1001Phe)
c.2487G>C (p.Leu829Phe)
n.3617G>C
c.3426G>C (p.Leu1142Phe)
c.3258G>C (p.Leu1086Phe)
c.2985G>C (p.Leu995Phe)
c.2835G>C (p.Leu945Phe)
2g.208326255G>TCA350115557PIKFYVEc.3444G>T (p.Leu1148Phe)
c.3276G>T (p.Leu1092Phe)
c.3480G>T (p.Leu1160Phe)
c.3477G>T (p.Leu1159Phe)
c.3462G>T (p.Leu1154Phe)
c.3312G>T (p.Leu1104Phe)
c.3309G>T (p.Leu1103Phe)
c.3294G>T (p.Leu1098Phe)
c.3189G>T (p.Leu1063Phe)
c.3186G>T (p.Leu1062Phe)
c.3153G>T (p.Leu1051Phe)
c.3003G>T (p.Leu1001Phe)
c.2487G>T (p.Leu829Phe)
n.3617G>T
c.3426G>T (p.Leu1142Phe)
c.3258G>T (p.Leu1086Phe)
c.2985G>T (p.Leu995Phe)
c.2835G>T (p.Leu945Phe)
 gnomAD v4
2g.208326256G>ACA350115558PIKFYVEc.3445G>A (p.Gly1149Ser)
c.3277G>A (p.Gly1093Ser)
c.3481G>A (p.Gly1161Ser)
c.3478G>A (p.Gly1160Ser)
c.3463G>A (p.Gly1155Ser)
c.3313G>A (p.Gly1105Ser)
c.3310G>A (p.Gly1104Ser)
c.3295G>A (p.Gly1099Ser)
c.3190G>A (p.Gly1064Ser)
c.3187G>A (p.Gly1063Ser)
c.3154G>A (p.Gly1052Ser)
c.3004G>A (p.Gly1002Ser)
c.2488G>A (p.Gly830Ser)
n.3618G>A
c.3427G>A (p.Gly1143Ser)
c.3259G>A (p.Gly1087Ser)
c.2986G>A (p.Gly996Ser)
c.2836G>A (p.Gly946Ser)
2g.208326256G>CCA350115559PIKFYVEc.3445G>C (p.Gly1149Arg)
c.3277G>C (p.Gly1093Arg)
c.3481G>C (p.Gly1161Arg)
c.3478G>C (p.Gly1160Arg)
c.3463G>C (p.Gly1155Arg)
c.3313G>C (p.Gly1105Arg)
c.3310G>C (p.Gly1104Arg)
c.3295G>C (p.Gly1099Arg)
c.3190G>C (p.Gly1064Arg)
c.3187G>C (p.Gly1063Arg)
c.3154G>C (p.Gly1052Arg)
c.3004G>C (p.Gly1002Arg)
c.2488G>C (p.Gly830Arg)
n.3618G>C
c.3427G>C (p.Gly1143Arg)
c.3259G>C (p.Gly1087Arg)
c.2986G>C (p.Gly996Arg)
c.2836G>C (p.Gly946Arg)
2g.208326256G>TCA350115560PIKFYVEc.3445G>T (p.Gly1149Cys)
c.3277G>T (p.Gly1093Cys)
c.3481G>T (p.Gly1161Cys)
c.3478G>T (p.Gly1160Cys)
c.3463G>T (p.Gly1155Cys)
c.3313G>T (p.Gly1105Cys)
c.3310G>T (p.Gly1104Cys)
c.3295G>T (p.Gly1099Cys)
c.3190G>T (p.Gly1064Cys)
c.3187G>T (p.Gly1063Cys)
c.3154G>T (p.Gly1052Cys)
c.3004G>T (p.Gly1002Cys)
c.2488G>T (p.Gly830Cys)
n.3618G>T
c.3427G>T (p.Gly1143Cys)
c.3259G>T (p.Gly1087Cys)
c.2986G>T (p.Gly996Cys)
c.2836G>T (p.Gly946Cys)
 gnomAD v4
2g.208326257G>ACA350115561PIKFYVEc.3446G>A (p.Gly1149Asp)
c.3278G>A (p.Gly1093Asp)
c.3482G>A (p.Gly1161Asp)
c.3479G>A (p.Gly1160Asp)
c.3464G>A (p.Gly1155Asp)
c.3314G>A (p.Gly1105Asp)
c.3311G>A (p.Gly1104Asp)
c.3296G>A (p.Gly1099Asp)
c.3191G>A (p.Gly1064Asp)
c.3188G>A (p.Gly1063Asp)
c.3155G>A (p.Gly1052Asp)
c.3005G>A (p.Gly1002Asp)
c.2489G>A (p.Gly830Asp)
n.3619G>A
c.3428G>A (p.Gly1143Asp)
c.3260G>A (p.Gly1087Asp)
c.2987G>A (p.Gly996Asp)
c.2837G>A (p.Gly946Asp)
2g.208326257G>CCA350115562PIKFYVEc.3446G>C (p.Gly1149Ala)
c.3278G>C (p.Gly1093Ala)
c.3482G>C (p.Gly1161Ala)
c.3479G>C (p.Gly1160Ala)
c.3464G>C (p.Gly1155Ala)
c.3314G>C (p.Gly1105Ala)
c.3311G>C (p.Gly1104Ala)
c.3296G>C (p.Gly1099Ala)
c.3191G>C (p.Gly1064Ala)
c.3188G>C (p.Gly1063Ala)
c.3155G>C (p.Gly1052Ala)
c.3005G>C (p.Gly1002Ala)
c.2489G>C (p.Gly830Ala)
n.3619G>C
c.3428G>C (p.Gly1143Ala)
c.3260G>C (p.Gly1087Ala)
c.2987G>C (p.Gly996Ala)
c.2837G>C (p.Gly946Ala)
2g.208326257G>TCA350115563PIKFYVEc.3446G>T (p.Gly1149Val)
c.3278G>T (p.Gly1093Val)
c.3482G>T (p.Gly1161Val)
c.3479G>T (p.Gly1160Val)
c.3464G>T (p.Gly1155Val)
c.3314G>T (p.Gly1105Val)
c.3311G>T (p.Gly1104Val)
c.3296G>T (p.Gly1099Val)
c.3191G>T (p.Gly1064Val)
c.3188G>T (p.Gly1063Val)
c.3155G>T (p.Gly1052Val)
c.3005G>T (p.Gly1002Val)
c.2489G>T (p.Gly830Val)
n.3619G>T
c.3428G>T (p.Gly1143Val)
c.3260G>T (p.Gly1087Val)
c.2987G>T (p.Gly996Val)
c.2837G>T (p.Gly946Val)
 gnomAD v4
2g.208326258T>ACA431117780PIKFYVEc.3447T>A (p.Gly1149=)
c.3279T>A (p.Gly1093=)
c.3483T>A (p.Gly1161=)
c.3480T>A (p.Gly1160=)
c.3465T>A (p.Gly1155=)
c.3315T>A (p.Gly1105=)
c.3312T>A (p.Gly1104=)
c.3297T>A (p.Gly1099=)
c.3192T>A (p.Gly1064=)
c.3189T>A (p.Gly1063=)
c.3156T>A (p.Gly1052=)
c.3006T>A (p.Gly1002=)
c.2490T>A (p.Gly830=)
n.3620T>A
c.3429T>A (p.Gly1143=)
c.3261T>A (p.Gly1087=)
c.2988T>A (p.Gly996=)
c.2838T>A (p.Gly946=)
2g.208326258T>CCA431117779PIKFYVEc.3447T>C (p.Gly1149=)
c.3279T>C (p.Gly1093=)
c.3483T>C (p.Gly1161=)
c.3480T>C (p.Gly1160=)
c.3465T>C (p.Gly1155=)
c.3315T>C (p.Gly1105=)
c.3312T>C (p.Gly1104=)
c.3297T>C (p.Gly1099=)
c.3192T>C (p.Gly1064=)
c.3189T>C (p.Gly1063=)
c.3156T>C (p.Gly1052=)
c.3006T>C (p.Gly1002=)
c.2490T>C (p.Gly830=)
n.3620T>C
c.3429T>C (p.Gly1143=)
c.3261T>C (p.Gly1087=)
c.2988T>C (p.Gly996=)
c.2838T>C (p.Gly946=)
2g.208326258T>GCA431117778PIKFYVEc.3447T>G (p.Gly1149=)
c.3279T>G (p.Gly1093=)
c.3483T>G (p.Gly1161=)
c.3480T>G (p.Gly1160=)
c.3465T>G (p.Gly1155=)
c.3315T>G (p.Gly1105=)
c.3312T>G (p.Gly1104=)
c.3297T>G (p.Gly1099=)
c.3192T>G (p.Gly1064=)
c.3189T>G (p.Gly1063=)
c.3156T>G (p.Gly1052=)
c.3006T>G (p.Gly1002=)
c.2490T>G (p.Gly830=)
n.3620T>G
c.3429T>G (p.Gly1143=)
c.3261T>G (p.Gly1087=)
c.2988T>G (p.Gly996=)
c.2838T>G (p.Gly946=)
2g.208326259A>CCA431117782PIKFYVEc.3448A>C (p.Arg1150=)
c.3280A>C (p.Arg1094=)
c.3484A>C (p.Arg1162=)
c.3481A>C (p.Arg1161=)
c.3466A>C (p.Arg1156=)
c.3316A>C (p.Arg1106=)
c.3313A>C (p.Arg1105=)
c.3298A>C (p.Arg1100=)
c.3193A>C (p.Arg1065=)
c.3190A>C (p.Arg1064=)
c.3157A>C (p.Arg1053=)
c.3007A>C (p.Arg1003=)
c.2491A>C (p.Arg831=)
n.3621A>C
c.3430A>C (p.Arg1144=)
c.3262A>C (p.Arg1088=)
c.2989A>C (p.Arg997=)
c.2839A>C (p.Arg947=)
2g.208326259A>GCA350115564PIKFYVEc.3448A>G (p.Arg1150Gly)
c.3280A>G (p.Arg1094Gly)
c.3484A>G (p.Arg1162Gly)
c.3481A>G (p.Arg1161Gly)
c.3466A>G (p.Arg1156Gly)
c.3316A>G (p.Arg1106Gly)
c.3313A>G (p.Arg1105Gly)
c.3298A>G (p.Arg1100Gly)
c.3193A>G (p.Arg1065Gly)
c.3190A>G (p.Arg1064Gly)
c.3157A>G (p.Arg1053Gly)
c.3007A>G (p.Arg1003Gly)
c.2491A>G (p.Arg831Gly)
n.3621A>G
c.3430A>G (p.Arg1144Gly)
c.3262A>G (p.Arg1088Gly)
c.2989A>G (p.Arg997Gly)
c.2839A>G (p.Arg947Gly)
2g.208326259A>TCA350115565PIKFYVEc.3448A>T (p.Arg1150Ter)
c.3280A>T (p.Arg1094Ter)
c.3484A>T (p.Arg1162Ter)
c.3481A>T (p.Arg1161Ter)
c.3466A>T (p.Arg1156Ter)
c.3316A>T (p.Arg1106Ter)
c.3313A>T (p.Arg1105Ter)
c.3298A>T (p.Arg1100Ter)
c.3193A>T (p.Arg1065Ter)
c.3190A>T (p.Arg1064Ter)
c.3157A>T (p.Arg1053Ter)
c.3007A>T (p.Arg1003Ter)
c.2491A>T (p.Arg831Ter)
n.3621A>T
c.3430A>T (p.Arg1144Ter)
c.3262A>T (p.Arg1088Ter)
c.2989A>T (p.Arg997Ter)
c.2839A>T (p.Arg947Ter)
2g.208326260G>ACA350115566PIKFYVEc.3449G>A (p.Arg1150Lys)
c.3281G>A (p.Arg1094Lys)
c.3485G>A (p.Arg1162Lys)
c.3482G>A (p.Arg1161Lys)
c.3467G>A (p.Arg1156Lys)
c.3317G>A (p.Arg1106Lys)
c.3314G>A (p.Arg1105Lys)
c.3299G>A (p.Arg1100Lys)
c.3194G>A (p.Arg1065Lys)
c.3191G>A (p.Arg1064Lys)
c.3158G>A (p.Arg1053Lys)
c.3008G>A (p.Arg1003Lys)
c.2492G>A (p.Arg831Lys)
n.3622G>A
c.3431G>A (p.Arg1144Lys)
c.3263G>A (p.Arg1088Lys)
c.2990G>A (p.Arg997Lys)
c.2840G>A (p.Arg947Lys)
2g.208326260G>CCA350115567PIKFYVEc.3449G>C (p.Arg1150Thr)
c.3281G>C (p.Arg1094Thr)
c.3485G>C (p.Arg1162Thr)
c.3482G>C (p.Arg1161Thr)
c.3467G>C (p.Arg1156Thr)
c.3317G>C (p.Arg1106Thr)
c.3314G>C (p.Arg1105Thr)
c.3299G>C (p.Arg1100Thr)
c.3194G>C (p.Arg1065Thr)
c.3191G>C (p.Arg1064Thr)
c.3158G>C (p.Arg1053Thr)
c.3008G>C (p.Arg1003Thr)
c.2492G>C (p.Arg831Thr)
n.3622G>C
c.3431G>C (p.Arg1144Thr)
c.3263G>C (p.Arg1088Thr)
c.2990G>C (p.Arg997Thr)
c.2840G>C (p.Arg947Thr)
2g.208326260G>TCA350115568PIKFYVEc.3449G>T (p.Arg1150Ile)
c.3281G>T (p.Arg1094Ile)
c.3485G>T (p.Arg1162Ile)
c.3482G>T (p.Arg1161Ile)
c.3467G>T (p.Arg1156Ile)
c.3317G>T (p.Arg1106Ile)
c.3314G>T (p.Arg1105Ile)
c.3299G>T (p.Arg1100Ile)
c.3194G>T (p.Arg1065Ile)
c.3191G>T (p.Arg1064Ile)
c.3158G>T (p.Arg1053Ile)
c.3008G>T (p.Arg1003Ile)
c.2492G>T (p.Arg831Ile)
n.3622G>T
c.3431G>T (p.Arg1144Ile)
c.3263G>T (p.Arg1088Ile)
c.2990G>T (p.Arg997Ile)
c.2840G>T (p.Arg947Ile)
2g.208326261A>CCA350115569PIKFYVEc.3450A>C (p.Arg1150Ser)
c.3282A>C (p.Arg1094Ser)
c.3486A>C (p.Arg1162Ser)
c.3483A>C (p.Arg1161Ser)
c.3468A>C (p.Arg1156Ser)
c.3318A>C (p.Arg1106Ser)
c.3315A>C (p.Arg1105Ser)
c.3300A>C (p.Arg1100Ser)
c.3195A>C (p.Arg1065Ser)
c.3192A>C (p.Arg1064Ser)
c.3159A>C (p.Arg1053Ser)
c.3009A>C (p.Arg1003Ser)
c.2493A>C (p.Arg831Ser)
n.3623A>C
c.3432A>C (p.Arg1144Ser)
c.3264A>C (p.Arg1088Ser)
c.2991A>C (p.Arg997Ser)
c.2841A>C (p.Arg947Ser)
2g.208326261A>GCA431117794PIKFYVEc.3450A>G (p.Arg1150=)
c.3282A>G (p.Arg1094=)
c.3486A>G (p.Arg1162=)
c.3483A>G (p.Arg1161=)
c.3468A>G (p.Arg1156=)
c.3318A>G (p.Arg1106=)
c.3315A>G (p.Arg1105=)
c.3300A>G (p.Arg1100=)
c.3195A>G (p.Arg1065=)
c.3192A>G (p.Arg1064=)
c.3159A>G (p.Arg1053=)
c.3009A>G (p.Arg1003=)
c.2493A>G (p.Arg831=)
n.3623A>G
c.3432A>G (p.Arg1144=)
c.3264A>G (p.Arg1088=)
c.2991A>G (p.Arg997=)
c.2841A>G (p.Arg947=)
2g.208326261A>TCA350115570PIKFYVEc.3450A>T (p.Arg1150Ser)
c.3282A>T (p.Arg1094Ser)
c.3486A>T (p.Arg1162Ser)
c.3483A>T (p.Arg1161Ser)
c.3468A>T (p.Arg1156Ser)
c.3318A>T (p.Arg1106Ser)
c.3315A>T (p.Arg1105Ser)
c.3300A>T (p.Arg1100Ser)
c.3195A>T (p.Arg1065Ser)
c.3192A>T (p.Arg1064Ser)
c.3159A>T (p.Arg1053Ser)
c.3009A>T (p.Arg1003Ser)
c.2493A>T (p.Arg831Ser)
n.3623A>T
c.3432A>T (p.Arg1144Ser)
c.3264A>T (p.Arg1088Ser)
c.2991A>T (p.Arg997Ser)
c.2841A>T (p.Arg947Ser)
2g.208326262A>CCA350115571PIKFYVEc.3451A>C (p.Met1151Leu)
c.3283A>C (p.Met1095Leu)
c.3487A>C (p.Met1163Leu)
c.3484A>C (p.Met1162Leu)
c.3469A>C (p.Met1157Leu)
c.3319A>C (p.Met1107Leu)
c.3316A>C (p.Met1106Leu)
c.3301A>C (p.Met1101Leu)
c.3196A>C (p.Met1066Leu)
c.3193A>C (p.Met1065Leu)
c.3160A>C (p.Met1054Leu)
c.3010A>C (p.Met1004Leu)
c.2494A>C (p.Met832Leu)
n.3624A>C
c.3433A>C (p.Met1145Leu)
c.3265A>C (p.Met1089Leu)
c.2992A>C (p.Met998Leu)
c.2842A>C (p.Met948Leu)
2g.208326262A>GCA350115572PIKFYVEc.3451A>G (p.Met1151Val)
c.3283A>G (p.Met1095Val)
c.3487A>G (p.Met1163Val)
c.3484A>G (p.Met1162Val)
c.3469A>G (p.Met1157Val)
c.3319A>G (p.Met1107Val)
c.3316A>G (p.Met1106Val)
c.3301A>G (p.Met1101Val)
c.3196A>G (p.Met1066Val)
c.3193A>G (p.Met1065Val)
c.3160A>G (p.Met1054Val)
c.3010A>G (p.Met1004Val)
c.2494A>G (p.Met832Val)
n.3624A>G
c.3433A>G (p.Met1145Val)
c.3265A>G (p.Met1089Val)
c.2992A>G (p.Met998Val)
c.2842A>G (p.Met948Val)
2g.208326262A>TCA350115573PIKFYVEc.3451A>T (p.Met1151Leu)
c.3283A>T (p.Met1095Leu)
c.3487A>T (p.Met1163Leu)
c.3484A>T (p.Met1162Leu)
c.3469A>T (p.Met1157Leu)
c.3319A>T (p.Met1107Leu)
c.3316A>T (p.Met1106Leu)
c.3301A>T (p.Met1101Leu)
c.3196A>T (p.Met1066Leu)
c.3193A>T (p.Met1065Leu)
c.3160A>T (p.Met1054Leu)
c.3010A>T (p.Met1004Leu)
c.2494A>T (p.Met832Leu)
n.3624A>T
c.3433A>T (p.Met1145Leu)
c.3265A>T (p.Met1089Leu)
c.2992A>T (p.Met998Leu)
c.2842A>T (p.Met948Leu)
 gnomAD v4
2g.208326263T>ACA350115574PIKFYVEc.3452T>A (p.Met1151Lys)
c.3284T>A (p.Met1095Lys)
c.3488T>A (p.Met1163Lys)
c.3485T>A (p.Met1162Lys)
c.3470T>A (p.Met1157Lys)
c.3320T>A (p.Met1107Lys)
c.3317T>A (p.Met1106Lys)
c.3302T>A (p.Met1101Lys)
c.3197T>A (p.Met1066Lys)
c.3194T>A (p.Met1065Lys)
c.3161T>A (p.Met1054Lys)
c.3011T>A (p.Met1004Lys)
c.2495T>A (p.Met832Lys)
n.3625T>A
c.3434T>A (p.Met1145Lys)
c.3266T>A (p.Met1089Lys)
c.2993T>A (p.Met998Lys)
c.2843T>A (p.Met948Lys)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
2g.208326263T>CCA350115575PIKFYVEc.3452T>C (p.Met1151Thr)
c.3284T>C (p.Met1095Thr)
c.3488T>C (p.Met1163Thr)
c.3485T>C (p.Met1162Thr)
c.3470T>C (p.Met1157Thr)
c.3320T>C (p.Met1107Thr)
c.3317T>C (p.Met1106Thr)
c.3302T>C (p.Met1101Thr)
c.3197T>C (p.Met1066Thr)
c.3194T>C (p.Met1065Thr)
c.3161T>C (p.Met1054Thr)
c.3011T>C (p.Met1004Thr)
c.2495T>C (p.Met832Thr)
n.3625T>C
c.3434T>C (p.Met1145Thr)
c.3266T>C (p.Met1089Thr)
c.2993T>C (p.Met998Thr)
c.2843T>C (p.Met948Thr)
2g.208326263T>GCA350115576PIKFYVEc.3452T>G (p.Met1151Arg)
c.3284T>G (p.Met1095Arg)
c.3488T>G (p.Met1163Arg)
c.3485T>G (p.Met1162Arg)
c.3470T>G (p.Met1157Arg)
c.3320T>G (p.Met1107Arg)
c.3317T>G (p.Met1106Arg)
c.3302T>G (p.Met1101Arg)
c.3197T>G (p.Met1066Arg)
c.3194T>G (p.Met1065Arg)
c.3161T>G (p.Met1054Arg)
c.3011T>G (p.Met1004Arg)
c.2495T>G (p.Met832Arg)
n.3625T>G
c.3434T>G (p.Met1145Arg)
c.3266T>G (p.Met1089Arg)
c.2993T>G (p.Met998Arg)
c.2843T>G (p.Met948Arg)
2g.208326263T=CA1324023438PIKFYVEc.3452T= (p.Met1151=)
c.3284T= (p.Met1095=)
c.3488T= (p.Met1163=)
c.3485T= (p.Met1162=)
c.3470T= (p.Met1157=)
c.3320T= (p.Met1107=)
c.3317T= (p.Met1106=)
c.3302T= (p.Met1101=)
c.3197T= (p.Met1066=)
c.3194T= (p.Met1065=)
c.3161T= (p.Met1054=)
c.3011T= (p.Met1004=)
c.2495T= (p.Met832=)
n.3625T=
c.3434T= (p.Met1145=)
c.3266T= (p.Met1089=)
c.2993T= (p.Met998=)
c.2843T= (p.Met948=)
2g.208326264G>ACA350115577PIKFYVEc.3453G>A (p.Met1151Ile)
c.3285G>A (p.Met1095Ile)
c.3489G>A (p.Met1163Ile)
c.3486G>A (p.Met1162Ile)
c.3471G>A (p.Met1157Ile)
c.3321G>A (p.Met1107Ile)
c.3318G>A (p.Met1106Ile)
c.3303G>A (p.Met1101Ile)
c.3198G>A (p.Met1066Ile)
c.3195G>A (p.Met1065Ile)
c.3162G>A (p.Met1054Ile)
c.3012G>A (p.Met1004Ile)
c.2496G>A (p.Met832Ile)
n.3626G>A
c.3435G>A (p.Met1145Ile)
c.3267G>A (p.Met1089Ile)
c.2994G>A (p.Met998Ile)
c.2844G>A (p.Met948Ile)
2g.208326264G>CCA350115578PIKFYVEc.3453G>C (p.Met1151Ile)
c.3285G>C (p.Met1095Ile)
c.3489G>C (p.Met1163Ile)
c.3486G>C (p.Met1162Ile)
c.3471G>C (p.Met1157Ile)
c.3321G>C (p.Met1107Ile)
c.3318G>C (p.Met1106Ile)
c.3303G>C (p.Met1101Ile)
c.3198G>C (p.Met1066Ile)
c.3195G>C (p.Met1065Ile)
c.3162G>C (p.Met1054Ile)
c.3012G>C (p.Met1004Ile)
c.2496G>C (p.Met832Ile)
n.3626G>C
c.3435G>C (p.Met1145Ile)
c.3267G>C (p.Met1089Ile)
c.2994G>C (p.Met998Ile)
c.2844G>C (p.Met948Ile)
2g.208326264G>TCA350115579PIKFYVEc.3453G>T (p.Met1151Ile)
c.3285G>T (p.Met1095Ile)
c.3489G>T (p.Met1163Ile)
c.3486G>T (p.Met1162Ile)
c.3471G>T (p.Met1157Ile)
c.3321G>T (p.Met1107Ile)
c.3318G>T (p.Met1106Ile)
c.3303G>T (p.Met1101Ile)
c.3198G>T (p.Met1066Ile)
c.3195G>T (p.Met1065Ile)
c.3162G>T (p.Met1054Ile)
c.3012G>T (p.Met1004Ile)
c.2496G>T (p.Met832Ile)
n.3626G>T
c.3435G>T (p.Met1145Ile)
c.3267G>T (p.Met1089Ile)
c.2994G>T (p.Met998Ile)
c.2844G>T (p.Met948Ile)
2g.208326265C>ACA350115580PIKFYVEc.3454C>A (p.Leu1152Met)
c.3286C>A (p.Leu1096Met)
c.3490C>A (p.Leu1164Met)
c.3487C>A (p.Leu1163Met)
c.3472C>A (p.Leu1158Met)
c.3322C>A (p.Leu1108Met)
c.3319C>A (p.Leu1107Met)
c.3304C>A (p.Leu1102Met)
c.3199C>A (p.Leu1067Met)
c.3196C>A (p.Leu1066Met)
c.3163C>A (p.Leu1055Met)
c.3013C>A (p.Leu1005Met)
c.2497C>A (p.Leu833Met)
n.3627C>A
c.3436C>A (p.Leu1146Met)
c.3268C>A (p.Leu1090Met)
c.2995C>A (p.Leu999Met)
c.2845C>A (p.Leu949Met)
 gnomAD v4
2g.208326265C=CA1324023439PIKFYVEc.3454C= (p.Leu1152=)
c.3286C= (p.Leu1096=)
c.3490C= (p.Leu1164=)
c.3487C= (p.Leu1163=)
c.3472C= (p.Leu1158=)
c.3322C= (p.Leu1108=)
c.3319C= (p.Leu1107=)
c.3304C= (p.Leu1102=)
c.3199C= (p.Leu1067=)
c.3196C= (p.Leu1066=)
c.3163C= (p.Leu1055=)
c.3013C= (p.Leu1005=)
c.2497C= (p.Leu833=)
n.3627C=
c.3436C= (p.Leu1146=)
c.3268C= (p.Leu1090=)
c.2995C= (p.Leu999=)
c.2845C= (p.Leu949=)
2g.208326265C>GCA350115581PIKFYVEc.3454C>G (p.Leu1152Val)
c.3286C>G (p.Leu1096Val)
c.3490C>G (p.Leu1164Val)
c.3487C>G (p.Leu1163Val)
c.3472C>G (p.Leu1158Val)
c.3322C>G (p.Leu1108Val)
c.3319C>G (p.Leu1107Val)
c.3304C>G (p.Leu1102Val)
c.3199C>G (p.Leu1067Val)
c.3196C>G (p.Leu1066Val)
c.3163C>G (p.Leu1055Val)
c.3013C>G (p.Leu1005Val)
c.2497C>G (p.Leu833Val)
n.3627C>G
c.3436C>G (p.Leu1146Val)
c.3268C>G (p.Leu1090Val)
c.2995C>G (p.Leu999Val)
c.2845C>G (p.Leu949Val)
2g.208326265C>TCA431117802PIKFYVEc.3454C>T (p.Leu1152=)
c.3286C>T (p.Leu1096=)
c.3490C>T (p.Leu1164=)
c.3487C>T (p.Leu1163=)
c.3472C>T (p.Leu1158=)
c.3322C>T (p.Leu1108=)
c.3319C>T (p.Leu1107=)
c.3304C>T (p.Leu1102=)
c.3199C>T (p.Leu1067=)
c.3196C>T (p.Leu1066=)
c.3163C>T (p.Leu1055=)
c.3013C>T (p.Leu1005=)
c.2497C>T (p.Leu833=)
n.3627C>T
c.3436C>T (p.Leu1146=)
c.3268C>T (p.Leu1090=)
c.2995C>T (p.Leu999=)
c.2845C>T (p.Leu949=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.208326266T>ACA350115583PIKFYVEc.3455T>A (p.Leu1152Gln)
c.3287T>A (p.Leu1096Gln)
c.3491T>A (p.Leu1164Gln)
c.3488T>A (p.Leu1163Gln)
c.3473T>A (p.Leu1158Gln)
c.3323T>A (p.Leu1108Gln)
c.3320T>A (p.Leu1107Gln)
c.3305T>A (p.Leu1102Gln)
c.3200T>A (p.Leu1067Gln)
c.3197T>A (p.Leu1066Gln)
c.3164T>A (p.Leu1055Gln)
c.3014T>A (p.Leu1005Gln)
c.2498T>A (p.Leu833Gln)
n.3628T>A
c.3437T>A (p.Leu1146Gln)
c.3269T>A (p.Leu1090Gln)
c.2996T>A (p.Leu999Gln)
c.2846T>A (p.Leu949Gln)
2g.208326266T>CCA2080038PIKFYVEc.3455T>C (p.Leu1152Pro)
c.3287T>C (p.Leu1096Pro)
c.3491T>C (p.Leu1164Pro)
c.3488T>C (p.Leu1163Pro)
c.3473T>C (p.Leu1158Pro)
c.3323T>C (p.Leu1108Pro)
c.3320T>C (p.Leu1107Pro)
c.3305T>C (p.Leu1102Pro)
c.3200T>C (p.Leu1067Pro)
c.3197T>C (p.Leu1066Pro)
c.3164T>C (p.Leu1055Pro)
c.3014T>C (p.Leu1005Pro)
c.2498T>C (p.Leu833Pro)
n.3628T>C
c.3437T>C (p.Leu1146Pro)
c.3269T>C (p.Leu1090Pro)
c.2996T>C (p.Leu999Pro)
c.2846T>C (p.Leu949Pro)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.208326266T>GCA350115582PIKFYVEc.3455T>G (p.Leu1152Arg)
c.3287T>G (p.Leu1096Arg)
c.3491T>G (p.Leu1164Arg)
c.3488T>G (p.Leu1163Arg)
c.3473T>G (p.Leu1158Arg)
c.3323T>G (p.Leu1108Arg)
c.3320T>G (p.Leu1107Arg)
c.3305T>G (p.Leu1102Arg)
c.3200T>G (p.Leu1067Arg)
c.3197T>G (p.Leu1066Arg)
c.3164T>G (p.Leu1055Arg)
c.3014T>G (p.Leu1005Arg)
c.2498T>G (p.Leu833Arg)
n.3628T>G
c.3437T>G (p.Leu1146Arg)
c.3269T>G (p.Leu1090Arg)
c.2996T>G (p.Leu999Arg)
c.2846T>G (p.Leu949Arg)
2g.208326266T=CA1324023440PIKFYVEc.3455T= (p.Leu1152=)
c.3287T= (p.Leu1096=)
c.3491T= (p.Leu1164=)
c.3488T= (p.Leu1163=)
c.3473T= (p.Leu1158=)
c.3323T= (p.Leu1108=)
c.3320T= (p.Leu1107=)
c.3305T= (p.Leu1102=)
c.3200T= (p.Leu1067=)
c.3197T= (p.Leu1066=)
c.3164T= (p.Leu1055=)
c.3014T= (p.Leu1005=)
c.2498T= (p.Leu833=)
n.3628T=
c.3437T= (p.Leu1146=)
c.3269T= (p.Leu1090=)
c.2996T= (p.Leu999=)
c.2846T= (p.Leu949=)
2g.208326267G>ACA431117810PIKFYVEc.3456G>A (p.Leu1152=)
c.3288G>A (p.Leu1096=)
c.3492G>A (p.Leu1164=)
c.3489G>A (p.Leu1163=)
c.3474G>A (p.Leu1158=)
c.3324G>A (p.Leu1108=)
c.3321G>A (p.Leu1107=)
c.3306G>A (p.Leu1102=)
c.3201G>A (p.Leu1067=)
c.3198G>A (p.Leu1066=)
c.3165G>A (p.Leu1055=)
c.3015G>A (p.Leu1005=)
c.2499G>A (p.Leu833=)
n.3629G>A
c.3438G>A (p.Leu1146=)
c.3270G>A (p.Leu1090=)
c.2997G>A (p.Leu999=)
c.2847G>A (p.Leu949=)
2g.208326267G>CCA431117813PIKFYVEc.3456G>C (p.Leu1152=)
c.3288G>C (p.Leu1096=)
c.3492G>C (p.Leu1164=)
c.3489G>C (p.Leu1163=)
c.3474G>C (p.Leu1158=)
c.3324G>C (p.Leu1108=)
c.3321G>C (p.Leu1107=)
c.3306G>C (p.Leu1102=)
c.3201G>C (p.Leu1067=)
c.3198G>C (p.Leu1066=)
c.3165G>C (p.Leu1055=)
c.3015G>C (p.Leu1005=)
c.2499G>C (p.Leu833=)
n.3629G>C
c.3438G>C (p.Leu1146=)
c.3270G>C (p.Leu1090=)
c.2997G>C (p.Leu999=)
c.2847G>C (p.Leu949=)
2g.208326267G>TCA431117814PIKFYVEc.3456G>T (p.Leu1152=)
c.3288G>T (p.Leu1096=)
c.3492G>T (p.Leu1164=)
c.3489G>T (p.Leu1163=)
c.3474G>T (p.Leu1158=)
c.3324G>T (p.Leu1108=)
c.3321G>T (p.Leu1107=)
c.3306G>T (p.Leu1102=)
c.3201G>T (p.Leu1067=)
c.3198G>T (p.Leu1066=)
c.3165G>T (p.Leu1055=)
c.3015G>T (p.Leu1005=)
c.2499G>T (p.Leu833=)
n.3629G>T
c.3438G>T (p.Leu1146=)
c.3270G>T (p.Leu1090=)
c.2997G>T (p.Leu999=)
c.2847G>T (p.Leu949=)
2g.208326268G>ACA350115584PIKFYVEc.3457G>A (p.Ala1153Thr)
c.3289G>A (p.Ala1097Thr)
c.3493G>A (p.Ala1165Thr)
c.3490G>A (p.Ala1164Thr)
c.3475G>A (p.Ala1159Thr)
c.3325G>A (p.Ala1109Thr)
c.3322G>A (p.Ala1108Thr)
c.3307G>A (p.Ala1103Thr)
c.3202G>A (p.Ala1068Thr)
c.3199G>A (p.Ala1067Thr)
c.3166G>A (p.Ala1056Thr)
c.3016G>A (p.Ala1006Thr)
c.2500G>A (p.Ala834Thr)
n.3630G>A
c.3439G>A (p.Ala1147Thr)
c.3271G>A (p.Ala1091Thr)
c.2998G>A (p.Ala1000Thr)
c.2848G>A (p.Ala950Thr)
2g.208326268G>CCA350115585PIKFYVEc.3457G>C (p.Ala1153Pro)
c.3289G>C (p.Ala1097Pro)
c.3493G>C (p.Ala1165Pro)
c.3490G>C (p.Ala1164Pro)
c.3475G>C (p.Ala1159Pro)
c.3325G>C (p.Ala1109Pro)
c.3322G>C (p.Ala1108Pro)
c.3307G>C (p.Ala1103Pro)
c.3202G>C (p.Ala1068Pro)
c.3199G>C (p.Ala1067Pro)
c.3166G>C (p.Ala1056Pro)
c.3016G>C (p.Ala1006Pro)
c.2500G>C (p.Ala834Pro)
n.3630G>C
c.3439G>C (p.Ala1147Pro)
c.3271G>C (p.Ala1091Pro)
c.2998G>C (p.Ala1000Pro)
c.2848G>C (p.Ala950Pro)
2g.208326268G>TCA350115586PIKFYVEc.3457G>T (p.Ala1153Ser)
c.3289G>T (p.Ala1097Ser)
c.3493G>T (p.Ala1165Ser)
c.3490G>T (p.Ala1164Ser)
c.3475G>T (p.Ala1159Ser)
c.3325G>T (p.Ala1109Ser)
c.3322G>T (p.Ala1108Ser)
c.3307G>T (p.Ala1103Ser)
c.3202G>T (p.Ala1068Ser)
c.3199G>T (p.Ala1067Ser)
c.3166G>T (p.Ala1056Ser)
c.3016G>T (p.Ala1006Ser)
c.2500G>T (p.Ala834Ser)
n.3630G>T
c.3439G>T (p.Ala1147Ser)
c.3271G>T (p.Ala1091Ser)
c.2998G>T (p.Ala1000Ser)
c.2848G>T (p.Ala950Ser)
2g.208326269C>ACA350115587PIKFYVEc.3458C>A (p.Ala1153Asp)
c.3290C>A (p.Ala1097Asp)
c.3494C>A (p.Ala1165Asp)
c.3491C>A (p.Ala1164Asp)
c.3476C>A (p.Ala1159Asp)
c.3326C>A (p.Ala1109Asp)
c.3323C>A (p.Ala1108Asp)
c.3308C>A (p.Ala1103Asp)
c.3203C>A (p.Ala1068Asp)
c.3200C>A (p.Ala1067Asp)
c.3167C>A (p.Ala1056Asp)
c.3017C>A (p.Ala1006Asp)
c.2501C>A (p.Ala834Asp)
n.3631C>A
c.3440C>A (p.Ala1147Asp)
c.3272C>A (p.Ala1091Asp)
c.2999C>A (p.Ala1000Asp)
c.2849C>A (p.Ala950Asp)
 gnomAD v4
2g.208326269C>GCA350115588PIKFYVEc.3458C>G (p.Ala1153Gly)
c.3290C>G (p.Ala1097Gly)
c.3494C>G (p.Ala1165Gly)
c.3491C>G (p.Ala1164Gly)
c.3476C>G (p.Ala1159Gly)
c.3326C>G (p.Ala1109Gly)
c.3323C>G (p.Ala1108Gly)
c.3308C>G (p.Ala1103Gly)
c.3203C>G (p.Ala1068Gly)
c.3200C>G (p.Ala1067Gly)
c.3167C>G (p.Ala1056Gly)
c.3017C>G (p.Ala1006Gly)
c.2501C>G (p.Ala834Gly)
n.3631C>G
c.3440C>G (p.Ala1147Gly)
c.3272C>G (p.Ala1091Gly)
c.2999C>G (p.Ala1000Gly)
c.2849C>G (p.Ala950Gly)
2g.208326269C>TCA350115589PIKFYVEc.3458C>T (p.Ala1153Val)
c.3290C>T (p.Ala1097Val)
c.3494C>T (p.Ala1165Val)
c.3491C>T (p.Ala1164Val)
c.3476C>T (p.Ala1159Val)
c.3326C>T (p.Ala1109Val)
c.3323C>T (p.Ala1108Val)
c.3308C>T (p.Ala1103Val)
c.3203C>T (p.Ala1068Val)
c.3200C>T (p.Ala1067Val)
c.3167C>T (p.Ala1056Val)
c.3017C>T (p.Ala1006Val)
c.2501C>T (p.Ala834Val)
n.3631C>T
c.3440C>T (p.Ala1147Val)
c.3272C>T (p.Ala1091Val)
c.2999C>T (p.Ala1000Val)
c.2849C>T (p.Ala950Val)
2g.208326270C>ACA431117818PIKFYVEc.3459C>A (p.Ala1153=)
c.3291C>A (p.Ala1097=)
c.3495C>A (p.Ala1165=)
c.3492C>A (p.Ala1164=)
c.3477C>A (p.Ala1159=)
c.3327C>A (p.Ala1109=)
c.3324C>A (p.Ala1108=)
c.3309C>A (p.Ala1103=)
c.3204C>A (p.Ala1068=)
c.3201C>A (p.Ala1067=)
c.3168C>A (p.Ala1056=)
c.3018C>A (p.Ala1006=)
c.2502C>A (p.Ala834=)
n.3632C>A
c.3441C>A (p.Ala1147=)
c.3273C>A (p.Ala1091=)
c.3000C>A (p.Ala1000=)
c.2850C>A (p.Ala950=)
2g.208326270C=CA1324023441PIKFYVEc.3459C= (p.Ala1153=)
c.3291C= (p.Ala1097=)
c.3495C= (p.Ala1165=)
c.3492C= (p.Ala1164=)
c.3477C= (p.Ala1159=)
c.3327C= (p.Ala1109=)
c.3324C= (p.Ala1108=)
c.3309C= (p.Ala1103=)
c.3204C= (p.Ala1068=)
c.3201C= (p.Ala1067=)
c.3168C= (p.Ala1056=)
c.3018C= (p.Ala1006=)
c.2502C= (p.Ala834=)
n.3632C=
c.3441C= (p.Ala1147=)
c.3273C= (p.Ala1091=)
c.3000C= (p.Ala1000=)
c.2850C= (p.Ala950=)
2g.208326270C>GCA431117824PIKFYVEc.3459C>G (p.Ala1153=)
c.3291C>G (p.Ala1097=)
c.3495C>G (p.Ala1165=)
c.3492C>G (p.Ala1164=)
c.3477C>G (p.Ala1159=)
c.3327C>G (p.Ala1109=)
c.3324C>G (p.Ala1108=)
c.3309C>G (p.Ala1103=)
c.3204C>G (p.Ala1068=)
c.3201C>G (p.Ala1067=)
c.3168C>G (p.Ala1056=)
c.3018C>G (p.Ala1006=)
c.2502C>G (p.Ala834=)
n.3632C>G
c.3441C>G (p.Ala1147=)
c.3273C>G (p.Ala1091=)
c.3000C>G (p.Ala1000=)
c.2850C>G (p.Ala950=)
2g.208326270C>TCA2080039PIKFYVEc.3459C>T (p.Ala1153=)
c.3291C>T (p.Ala1097=)
c.3495C>T (p.Ala1165=)
c.3492C>T (p.Ala1164=)
c.3477C>T (p.Ala1159=)
c.3327C>T (p.Ala1109=)
c.3324C>T (p.Ala1108=)
c.3309C>T (p.Ala1103=)
c.3204C>T (p.Ala1068=)
c.3201C>T (p.Ala1067=)
c.3168C>T (p.Ala1056=)
c.3018C>T (p.Ala1006=)
c.2502C>T (p.Ala834=)
n.3632C>T
c.3441C>T (p.Ala1147=)
c.3273C>T (p.Ala1091=)
c.3000C>T (p.Ala1000=)
c.2850C>T (p.Ala950=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.208326271G>ACA2080040PIKFYVEc.3460G>A (p.Asp1154Asn)
c.3292G>A (p.Asp1098Asn)
c.3496G>A (p.Asp1166Asn)
c.3493G>A (p.Asp1165Asn)
c.3478G>A (p.Asp1160Asn)
c.3328G>A (p.Asp1110Asn)
c.3325G>A (p.Asp1109Asn)
c.3310G>A (p.Asp1104Asn)
c.3205G>A (p.Asp1069Asn)
c.3202G>A (p.Asp1068Asn)
c.3169G>A (p.Asp1057Asn)
c.3019G>A (p.Asp1007Asn)
c.2503G>A (p.Asp835Asn)
n.3633G>A
c.3442G>A (p.Asp1148Asn)
c.3274G>A (p.Asp1092Asn)
c.3001G>A (p.Asp1001Asn)
c.2851G>A (p.Asp951Asn)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.208326271G>CCA350115590PIKFYVEc.3460G>C (p.Asp1154His)
c.3292G>C (p.Asp1098His)
c.3496G>C (p.Asp1166His)
c.3493G>C (p.Asp1165His)
c.3478G>C (p.Asp1160His)
c.3328G>C (p.Asp1110His)
c.3325G>C (p.Asp1109His)
c.3310G>C (p.Asp1104His)
c.3205G>C (p.Asp1069His)
c.3202G>C (p.Asp1068His)
c.3169G>C (p.Asp1057His)
c.3019G>C (p.Asp1007His)
c.2503G>C (p.Asp835His)
n.3633G>C
c.3442G>C (p.Asp1148His)
c.3274G>C (p.Asp1092His)
c.3001G>C (p.Asp1001His)
c.2851G>C (p.Asp951His)
2g.208326271G=CA1324023442PIKFYVEc.3460G= (p.Asp1154=)
c.3292G= (p.Asp1098=)
c.3496G= (p.Asp1166=)
c.3493G= (p.Asp1165=)
c.3478G= (p.Asp1160=)
c.3328G= (p.Asp1110=)
c.3325G= (p.Asp1109=)
c.3310G= (p.Asp1104=)
c.3205G= (p.Asp1069=)
c.3202G= (p.Asp1068=)
c.3169G= (p.Asp1057=)
c.3019G= (p.Asp1007=)
c.2503G= (p.Asp835=)
n.3633G=
c.3442G= (p.Asp1148=)
c.3274G= (p.Asp1092=)
c.3001G= (p.Asp1001=)
c.2851G= (p.Asp951=)
2g.208326271G>TCA350115591PIKFYVEc.3460G>T (p.Asp1154Tyr)
c.3292G>T (p.Asp1098Tyr)
c.3496G>T (p.Asp1166Tyr)
c.3493G>T (p.Asp1165Tyr)
c.3478G>T (p.Asp1160Tyr)
c.3328G>T (p.Asp1110Tyr)
c.3325G>T (p.Asp1109Tyr)
c.3310G>T (p.Asp1104Tyr)
c.3205G>T (p.Asp1069Tyr)
c.3202G>T (p.Asp1068Tyr)
c.3169G>T (p.Asp1057Tyr)
c.3019G>T (p.Asp1007Tyr)
c.2503G>T (p.Asp835Tyr)
n.3633G>T
c.3442G>T (p.Asp1148Tyr)
c.3274G>T (p.Asp1092Tyr)
c.3001G>T (p.Asp1001Tyr)
c.2851G>T (p.Asp951Tyr)
2g.208326272A>CCA350115592PIKFYVEc.3461A>C (p.Asp1154Ala)
c.3293A>C (p.Asp1098Ala)
c.3497A>C (p.Asp1166Ala)
c.3494A>C (p.Asp1165Ala)
c.3479A>C (p.Asp1160Ala)
c.3329A>C (p.Asp1110Ala)
c.3326A>C (p.Asp1109Ala)
c.3311A>C (p.Asp1104Ala)
c.3206A>C (p.Asp1069Ala)
c.3203A>C (p.Asp1068Ala)
c.3170A>C (p.Asp1057Ala)
c.3020A>C (p.Asp1007Ala)
c.2504A>C (p.Asp835Ala)
n.3634A>C
c.3443A>C (p.Asp1148Ala)
c.3275A>C (p.Asp1092Ala)
c.3002A>C (p.Asp1001Ala)
c.2852A>C (p.Asp951Ala)
2g.208326272A>GCA350115593PIKFYVEc.3461A>G (p.Asp1154Gly)
c.3293A>G (p.Asp1098Gly)
c.3497A>G (p.Asp1166Gly)
c.3494A>G (p.Asp1165Gly)
c.3479A>G (p.Asp1160Gly)
c.3329A>G (p.Asp1110Gly)
c.3326A>G (p.Asp1109Gly)
c.3311A>G (p.Asp1104Gly)
c.3206A>G (p.Asp1069Gly)
c.3203A>G (p.Asp1068Gly)
c.3170A>G (p.Asp1057Gly)
c.3020A>G (p.Asp1007Gly)
c.2504A>G (p.Asp835Gly)
n.3634A>G
c.3443A>G (p.Asp1148Gly)
c.3275A>G (p.Asp1092Gly)
c.3002A>G (p.Asp1001Gly)
c.2852A>G (p.Asp951Gly)
 gnomAD v4
2g.208326272A>TCA350115594PIKFYVEc.3461A>T (p.Asp1154Val)
c.3293A>T (p.Asp1098Val)
c.3497A>T (p.Asp1166Val)
c.3494A>T (p.Asp1165Val)
c.3479A>T (p.Asp1160Val)
c.3329A>T (p.Asp1110Val)
c.3326A>T (p.Asp1109Val)
c.3311A>T (p.Asp1104Val)
c.3206A>T (p.Asp1069Val)
c.3203A>T (p.Asp1068Val)
c.3170A>T (p.Asp1057Val)
c.3020A>T (p.Asp1007Val)
c.2504A>T (p.Asp835Val)
n.3634A>T
c.3443A>T (p.Asp1148Val)
c.3275A>T (p.Asp1092Val)
c.3002A>T (p.Asp1001Val)
c.2852A>T (p.Asp951Val)
2g.208326273T>ACA350115596PIKFYVEc.3462T>A (p.Asp1154Glu)
c.3294T>A (p.Asp1098Glu)
c.3498T>A (p.Asp1166Glu)
c.3495T>A (p.Asp1165Glu)
c.3480T>A (p.Asp1160Glu)
c.3330T>A (p.Asp1110Glu)
c.3327T>A (p.Asp1109Glu)
c.3312T>A (p.Asp1104Glu)
c.3207T>A (p.Asp1069Glu)
c.3204T>A (p.Asp1068Glu)
c.3171T>A (p.Asp1057Glu)
c.3021T>A (p.Asp1007Glu)
c.2505T>A (p.Asp835Glu)
n.3635T>A
c.3444T>A (p.Asp1148Glu)
c.3276T>A (p.Asp1092Glu)
c.3003T>A (p.Asp1001Glu)
c.2853T>A (p.Asp951Glu)
2g.208326273T>CCA431117832PIKFYVEc.3462T>C (p.Asp1154=)
c.3294T>C (p.Asp1098=)
c.3498T>C (p.Asp1166=)
c.3495T>C (p.Asp1165=)
c.3480T>C (p.Asp1160=)
c.3330T>C (p.Asp1110=)
c.3327T>C (p.Asp1109=)
c.3312T>C (p.Asp1104=)
c.3207T>C (p.Asp1069=)
c.3204T>C (p.Asp1068=)
c.3171T>C (p.Asp1057=)
c.3021T>C (p.Asp1007=)
c.2505T>C (p.Asp835=)
n.3635T>C
c.3444T>C (p.Asp1148=)
c.3276T>C (p.Asp1092=)
c.3003T>C (p.Asp1001=)
c.2853T>C (p.Asp951=)
2g.208326273T>GCA350115595PIKFYVEc.3462T>G (p.Asp1154Glu)
c.3294T>G (p.Asp1098Glu)
c.3498T>G (p.Asp1166Glu)
c.3495T>G (p.Asp1165Glu)
c.3480T>G (p.Asp1160Glu)
c.3330T>G (p.Asp1110Glu)
c.3327T>G (p.Asp1109Glu)
c.3312T>G (p.Asp1104Glu)
c.3207T>G (p.Asp1069Glu)
c.3204T>G (p.Asp1068Glu)
c.3171T>G (p.Asp1057Glu)
c.3021T>G (p.Asp1007Glu)
c.2505T>G (p.Asp835Glu)
n.3635T>G
c.3444T>G (p.Asp1148Glu)
c.3276T>G (p.Asp1092Glu)
c.3003T>G (p.Asp1001Glu)
c.2853T>G (p.Asp951Glu)
2g.208326274T>ACA350115597PIKFYVEc.3463T>A (p.Tyr1155Asn)
c.3295T>A (p.Tyr1099Asn)
c.3499T>A (p.Tyr1167Asn)
c.3496T>A (p.Tyr1166Asn)
c.3481T>A (p.Tyr1161Asn)
c.3331T>A (p.Tyr1111Asn)
c.3328T>A (p.Tyr1110Asn)
c.3313T>A (p.Tyr1105Asn)
c.3208T>A (p.Tyr1070Asn)
c.3205T>A (p.Tyr1069Asn)
c.3172T>A (p.Tyr1058Asn)
c.3022T>A (p.Tyr1008Asn)
c.2506T>A (p.Tyr836Asn)
n.3636T>A
c.3445T>A (p.Tyr1149Asn)
c.3277T>A (p.Tyr1093Asn)
c.3004T>A (p.Tyr1002Asn)
c.2854T>A (p.Tyr952Asn)
2g.208326274T>CCA350115598PIKFYVEc.3463T>C (p.Tyr1155His)
c.3295T>C (p.Tyr1099His)
c.3499T>C (p.Tyr1167His)
c.3496T>C (p.Tyr1166His)
c.3481T>C (p.Tyr1161His)
c.3331T>C (p.Tyr1111His)
c.3328T>C (p.Tyr1110His)
c.3313T>C (p.Tyr1105His)
c.3208T>C (p.Tyr1070His)
c.3205T>C (p.Tyr1069His)
c.3172T>C (p.Tyr1058His)
c.3022T>C (p.Tyr1008His)
c.2506T>C (p.Tyr836His)
n.3636T>C
c.3445T>C (p.Tyr1149His)
c.3277T>C (p.Tyr1093His)
c.3004T>C (p.Tyr1002His)
c.2854T>C (p.Tyr952His)
2g.208326274T>GCA350115599PIKFYVEc.3463T>G (p.Tyr1155Asp)
c.3295T>G (p.Tyr1099Asp)
c.3499T>G (p.Tyr1167Asp)
c.3496T>G (p.Tyr1166Asp)
c.3481T>G (p.Tyr1161Asp)
c.3331T>G (p.Tyr1111Asp)
c.3328T>G (p.Tyr1110Asp)
c.3313T>G (p.Tyr1105Asp)
c.3208T>G (p.Tyr1070Asp)
c.3205T>G (p.Tyr1069Asp)
c.3172T>G (p.Tyr1058Asp)
c.3022T>G (p.Tyr1008Asp)
c.2506T>G (p.Tyr836Asp)
n.3636T>G
c.3445T>G (p.Tyr1149Asp)
c.3277T>G (p.Tyr1093Asp)
c.3004T>G (p.Tyr1002Asp)
c.2854T>G (p.Tyr952Asp)
2g.208326275A>CCA350115600PIKFYVEc.3464A>C (p.Tyr1155Ser)
c.3296A>C (p.Tyr1099Ser)
c.3500A>C (p.Tyr1167Ser)
c.3497A>C (p.Tyr1166Ser)
c.3482A>C (p.Tyr1161Ser)
c.3332A>C (p.Tyr1111Ser)
c.3329A>C (p.Tyr1110Ser)
c.3314A>C (p.Tyr1105Ser)
c.3209A>C (p.Tyr1070Ser)
c.3206A>C (p.Tyr1069Ser)
c.3173A>C (p.Tyr1058Ser)
c.3023A>C (p.Tyr1008Ser)
c.2507A>C (p.Tyr836Ser)
n.3637A>C
c.3446A>C (p.Tyr1149Ser)
c.3278A>C (p.Tyr1093Ser)
c.3005A>C (p.Tyr1002Ser)
c.2855A>C (p.Tyr952Ser)
2g.208326275A>GCA350115601PIKFYVEc.3464A>G (p.Tyr1155Cys)
c.3296A>G (p.Tyr1099Cys)
c.3500A>G (p.Tyr1167Cys)
c.3497A>G (p.Tyr1166Cys)
c.3482A>G (p.Tyr1161Cys)
c.3332A>G (p.Tyr1111Cys)
c.3329A>G (p.Tyr1110Cys)
c.3314A>G (p.Tyr1105Cys)
c.3209A>G (p.Tyr1070Cys)
c.3206A>G (p.Tyr1069Cys)
c.3173A>G (p.Tyr1058Cys)
c.3023A>G (p.Tyr1008Cys)
c.2507A>G (p.Tyr836Cys)
n.3637A>G
c.3446A>G (p.Tyr1149Cys)
c.3278A>G (p.Tyr1093Cys)
c.3005A>G (p.Tyr1002Cys)
c.2855A>G (p.Tyr952Cys)
2g.208326275A>TCA350115602PIKFYVEc.3464A>T (p.Tyr1155Phe)
c.3296A>T (p.Tyr1099Phe)
c.3500A>T (p.Tyr1167Phe)
c.3497A>T (p.Tyr1166Phe)
c.3482A>T (p.Tyr1161Phe)
c.3332A>T (p.Tyr1111Phe)
c.3329A>T (p.Tyr1110Phe)
c.3314A>T (p.Tyr1105Phe)
c.3209A>T (p.Tyr1070Phe)
c.3206A>T (p.Tyr1069Phe)
c.3173A>T (p.Tyr1058Phe)
c.3023A>T (p.Tyr1008Phe)
c.2507A>T (p.Tyr836Phe)
n.3637A>T
c.3446A>T (p.Tyr1149Phe)
c.3278A>T (p.Tyr1093Phe)
c.3005A>T (p.Tyr1002Phe)
c.2855A>T (p.Tyr952Phe)
2g.208326276T>ACA350115603PIKFYVEc.3465T>A (p.Tyr1155Ter)
c.3297T>A (p.Tyr1099Ter)
c.3501T>A (p.Tyr1167Ter)
c.3498T>A (p.Tyr1166Ter)
c.3483T>A (p.Tyr1161Ter)
c.3333T>A (p.Tyr1111Ter)
c.3330T>A (p.Tyr1110Ter)
c.3315T>A (p.Tyr1105Ter)
c.3210T>A (p.Tyr1070Ter)
c.3207T>A (p.Tyr1069Ter)
c.3174T>A (p.Tyr1058Ter)
c.3024T>A (p.Tyr1008Ter)
c.2508T>A (p.Tyr836Ter)
n.3638T>A
c.3447T>A (p.Tyr1149Ter)
c.3279T>A (p.Tyr1093Ter)
c.3006T>A (p.Tyr1002Ter)
c.2856T>A (p.Tyr952Ter)
2g.208326276T>CCA431117025PIKFYVEc.3465T>C (p.Tyr1155=)
c.3297T>C (p.Tyr1099=)
c.3501T>C (p.Tyr1167=)
c.3498T>C (p.Tyr1166=)
c.3483T>C (p.Tyr1161=)
c.3333T>C (p.Tyr1111=)
c.3330T>C (p.Tyr1110=)
c.3315T>C (p.Tyr1105=)
c.3210T>C (p.Tyr1070=)
c.3207T>C (p.Tyr1069=)
c.3174T>C (p.Tyr1058=)
c.3024T>C (p.Tyr1008=)
c.2508T>C (p.Tyr836=)
n.3638T>C
c.3447T>C (p.Tyr1149=)
c.3279T>C (p.Tyr1093=)
c.3006T>C (p.Tyr1002=)
c.2856T>C (p.Tyr952=)
2g.208326276T>GCA350115604PIKFYVEc.3465T>G (p.Tyr1155Ter)
c.3297T>G (p.Tyr1099Ter)
c.3501T>G (p.Tyr1167Ter)
c.3498T>G (p.Tyr1166Ter)
c.3483T>G (p.Tyr1161Ter)
c.3333T>G (p.Tyr1111Ter)
c.3330T>G (p.Tyr1110Ter)
c.3315T>G (p.Tyr1105Ter)
c.3210T>G (p.Tyr1070Ter)
c.3207T>G (p.Tyr1069Ter)
c.3174T>G (p.Tyr1058Ter)
c.3024T>G (p.Tyr1008Ter)
c.2508T>G (p.Tyr836Ter)
n.3638T>G
c.3447T>G (p.Tyr1149Ter)
c.3279T>G (p.Tyr1093Ter)
c.3006T>G (p.Tyr1002Ter)
c.2856T>G (p.Tyr952Ter)
2g.208326277C>ACA431117028PIKFYVEc.3466C>A (p.Arg1156=)
c.3298C>A (p.Arg1100=)
c.3502C>A (p.Arg1168=)
c.3499C>A (p.Arg1167=)
c.3484C>A (p.Arg1162=)
c.3334C>A (p.Arg1112=)
c.3331C>A (p.Arg1111=)
c.3316C>A (p.Arg1106=)
c.3211C>A (p.Arg1071=)
c.3208C>A (p.Arg1070=)
c.3175C>A (p.Arg1059=)
c.3025C>A (p.Arg1009=)
c.2509C>A (p.Arg837=)
n.3639C>A
c.3448C>A (p.Arg1150=)
c.3280C>A (p.Arg1094=)
c.3007C>A (p.Arg1003=)
c.2857C>A (p.Arg953=)
2g.208326277C=CA1324023443PIKFYVEc.3466C= (p.Arg1156=)
c.3298C= (p.Arg1100=)
c.3502C= (p.Arg1168=)
c.3499C= (p.Arg1167=)
c.3484C= (p.Arg1162=)
c.3334C= (p.Arg1112=)
c.3331C= (p.Arg1111=)
c.3316C= (p.Arg1106=)
c.3211C= (p.Arg1071=)
c.3208C= (p.Arg1070=)
c.3175C= (p.Arg1059=)
c.3025C= (p.Arg1009=)
c.2509C= (p.Arg837=)
n.3639C=
c.3448C= (p.Arg1150=)
c.3280C= (p.Arg1094=)
c.3007C= (p.Arg1003=)
c.2857C= (p.Arg953=)
2g.208326277C>GCA350115605PIKFYVEc.3466C>G (p.Arg1156Gly)
c.3298C>G (p.Arg1100Gly)
c.3502C>G (p.Arg1168Gly)
c.3499C>G (p.Arg1167Gly)
c.3484C>G (p.Arg1162Gly)
c.3334C>G (p.Arg1112Gly)
c.3331C>G (p.Arg1111Gly)
c.3316C>G (p.Arg1106Gly)
c.3211C>G (p.Arg1071Gly)
c.3208C>G (p.Arg1070Gly)
c.3175C>G (p.Arg1059Gly)
c.3025C>G (p.Arg1009Gly)
c.2509C>G (p.Arg837Gly)
n.3639C>G
c.3448C>G (p.Arg1150Gly)
c.3280C>G (p.Arg1094Gly)
c.3007C>G (p.Arg1003Gly)
c.2857C>G (p.Arg953Gly)
2g.208326277C>TCA64596724PIKFYVEc.3466C>T (p.Arg1156Ter)
c.3298C>T (p.Arg1100Ter)
c.3502C>T (p.Arg1168Ter)
c.3499C>T (p.Arg1167Ter)
c.3484C>T (p.Arg1162Ter)
c.3334C>T (p.Arg1112Ter)
c.3331C>T (p.Arg1111Ter)
c.3316C>T (p.Arg1106Ter)
c.3211C>T (p.Arg1071Ter)
c.3208C>T (p.Arg1070Ter)
c.3175C>T (p.Arg1059Ter)
c.3025C>T (p.Arg1009Ter)
c.2509C>T (p.Arg837Ter)
n.3639C>T
c.3448C>T (p.Arg1150Ter)
c.3280C>T (p.Arg1094Ter)
c.3007C>T (p.Arg1003Ter)
c.2857C>T (p.Arg953Ter)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.208326278G>ACA350115606PIKFYVEc.3467G>A (p.Arg1156Gln)
c.3299G>A (p.Arg1100Gln)
c.3503G>A (p.Arg1168Gln)
c.3500G>A (p.Arg1167Gln)
c.3485G>A (p.Arg1162Gln)
c.3335G>A (p.Arg1112Gln)
c.3332G>A (p.Arg1111Gln)
c.3317G>A (p.Arg1106Gln)
c.3212G>A (p.Arg1071Gln)
c.3209G>A (p.Arg1070Gln)
c.3176G>A (p.Arg1059Gln)
c.3026G>A (p.Arg1009Gln)
c.2510G>A (p.Arg837Gln)
n.3640G>A
c.3449G>A (p.Arg1150Gln)
c.3281G>A (p.Arg1094Gln)
c.3008G>A (p.Arg1003Gln)
c.2858G>A (p.Arg953Gln)
 dbSNP gnomAD v2
2g.208326278G>CCA350115607PIKFYVEc.3467G>C (p.Arg1156Pro)
c.3299G>C (p.Arg1100Pro)
c.3503G>C (p.Arg1168Pro)
c.3500G>C (p.Arg1167Pro)
c.3485G>C (p.Arg1162Pro)
c.3335G>C (p.Arg1112Pro)
c.3332G>C (p.Arg1111Pro)
c.3317G>C (p.Arg1106Pro)
c.3212G>C (p.Arg1071Pro)
c.3209G>C (p.Arg1070Pro)
c.3176G>C (p.Arg1059Pro)
c.3026G>C (p.Arg1009Pro)
c.2510G>C (p.Arg837Pro)
n.3640G>C
c.3449G>C (p.Arg1150Pro)
c.3281G>C (p.Arg1094Pro)
c.3008G>C (p.Arg1003Pro)
c.2858G>C (p.Arg953Pro)
2g.208326278G=CA1324023444PIKFYVEc.3467G= (p.Arg1156=)
c.3299G= (p.Arg1100=)
c.3503G= (p.Arg1168=)
c.3500G= (p.Arg1167=)
c.3485G= (p.Arg1162=)
c.3335G= (p.Arg1112=)
c.3332G= (p.Arg1111=)
c.3317G= (p.Arg1106=)
c.3212G= (p.Arg1071=)
c.3209G= (p.Arg1070=)
c.3176G= (p.Arg1059=)
c.3026G= (p.Arg1009=)
c.2510G= (p.Arg837=)
n.3640G=
c.3449G= (p.Arg1150=)
c.3281G= (p.Arg1094=)
c.3008G= (p.Arg1003=)
c.2858G= (p.Arg953=)
2g.208326278G>TCA350115608PIKFYVEc.3467G>T (p.Arg1156Leu)
c.3299G>T (p.Arg1100Leu)
c.3503G>T (p.Arg1168Leu)
c.3500G>T (p.Arg1167Leu)
c.3485G>T (p.Arg1162Leu)
c.3335G>T (p.Arg1112Leu)
c.3332G>T (p.Arg1111Leu)
c.3317G>T (p.Arg1106Leu)
c.3212G>T (p.Arg1071Leu)
c.3209G>T (p.Arg1070Leu)
c.3176G>T (p.Arg1059Leu)
c.3026G>T (p.Arg1009Leu)
c.2510G>T (p.Arg837Leu)
n.3640G>T
c.3449G>T (p.Arg1150Leu)
c.3281G>T (p.Arg1094Leu)
c.3008G>T (p.Arg1003Leu)
c.2858G>T (p.Arg953Leu)
2g.208326279A>CCA431117029PIKFYVEc.3468A>C (p.Arg1156=)
c.3300A>C (p.Arg1100=)
c.3504A>C (p.Arg1168=)
c.3501A>C (p.Arg1167=)
c.3486A>C (p.Arg1162=)
c.3336A>C (p.Arg1112=)
c.3333A>C (p.Arg1111=)
c.3318A>C (p.Arg1106=)
c.3213A>C (p.Arg1071=)
c.3210A>C (p.Arg1070=)
c.3177A>C (p.Arg1059=)
c.3027A>C (p.Arg1009=)
c.2511A>C (p.Arg837=)
n.3641A>C
c.3450A>C (p.Arg1150=)
c.3282A>C (p.Arg1094=)
c.3009A>C (p.Arg1003=)
c.2859A>C (p.Arg953=)
2g.208326279A>GCA431117030PIKFYVEc.3468A>G (p.Arg1156=)
c.3300A>G (p.Arg1100=)
c.3504A>G (p.Arg1168=)
c.3501A>G (p.Arg1167=)
c.3486A>G (p.Arg1162=)
c.3336A>G (p.Arg1112=)
c.3333A>G (p.Arg1111=)
c.3318A>G (p.Arg1106=)
c.3213A>G (p.Arg1071=)
c.3210A>G (p.Arg1070=)
c.3177A>G (p.Arg1059=)
c.3027A>G (p.Arg1009=)
c.2511A>G (p.Arg837=)
n.3641A>G
c.3450A>G (p.Arg1150=)
c.3282A>G (p.Arg1094=)
c.3009A>G (p.Arg1003=)
c.2859A>G (p.Arg953=)
2g.208326279A>TCA431117031PIKFYVEc.3468A>T (p.Arg1156=)
c.3300A>T (p.Arg1100=)
c.3504A>T (p.Arg1168=)
c.3501A>T (p.Arg1167=)
c.3486A>T (p.Arg1162=)
c.3336A>T (p.Arg1112=)
c.3333A>T (p.Arg1111=)
c.3318A>T (p.Arg1106=)
c.3213A>T (p.Arg1071=)
c.3210A>T (p.Arg1070=)
c.3177A>T (p.Arg1059=)
c.3027A>T (p.Arg1009=)
c.2511A>T (p.Arg837=)
n.3641A>T
c.3450A>T (p.Arg1150=)
c.3282A>T (p.Arg1094=)
c.3009A>T (p.Arg1003=)
c.2859A>T (p.Arg953=)
2g.208326280G>ACA350115611PIKFYVEc.3469G>A (p.Ala1157Thr)
c.3301G>A (p.Ala1101Thr)
c.3505G>A (p.Ala1169Thr)
c.3502G>A (p.Ala1168Thr)
c.3487G>A (p.Ala1163Thr)
c.3337G>A (p.Ala1113Thr)
c.3334G>A (p.Ala1112Thr)
c.3319G>A (p.Ala1107Thr)
c.3214G>A (p.Ala1072Thr)
c.3211G>A (p.Ala1071Thr)
c.3178G>A (p.Ala1060Thr)
c.3028G>A (p.Ala1010Thr)
c.2512G>A (p.Ala838Thr)
n.3642G>A
c.3451G>A (p.Ala1151Thr)
c.3283G>A (p.Ala1095Thr)
c.3010G>A (p.Ala1004Thr)
c.2860G>A (p.Ala954Thr)
2g.208326280G>CCA350115610PIKFYVEc.3469G>C (p.Ala1157Pro)
c.3301G>C (p.Ala1101Pro)
c.3505G>C (p.Ala1169Pro)
c.3502G>C (p.Ala1168Pro)
c.3487G>C (p.Ala1163Pro)
c.3337G>C (p.Ala1113Pro)
c.3334G>C (p.Ala1112Pro)
c.3319G>C (p.Ala1107Pro)
c.3214G>C (p.Ala1072Pro)
c.3211G>C (p.Ala1071Pro)
c.3178G>C (p.Ala1060Pro)
c.3028G>C (p.Ala1010Pro)
c.2512G>C (p.Ala838Pro)
n.3642G>C
c.3451G>C (p.Ala1151Pro)
c.3283G>C (p.Ala1095Pro)
c.3010G>C (p.Ala1004Pro)
c.2860G>C (p.Ala954Pro)
2g.208326280G>TCA350115609PIKFYVEc.3469G>T (p.Ala1157Ser)
c.3301G>T (p.Ala1101Ser)
c.3505G>T (p.Ala1169Ser)
c.3502G>T (p.Ala1168Ser)
c.3487G>T (p.Ala1163Ser)
c.3337G>T (p.Ala1113Ser)
c.3334G>T (p.Ala1112Ser)
c.3319G>T (p.Ala1107Ser)
c.3214G>T (p.Ala1072Ser)
c.3211G>T (p.Ala1071Ser)
c.3178G>T (p.Ala1060Ser)
c.3028G>T (p.Ala1010Ser)
c.2512G>T (p.Ala838Ser)
n.3642G>T
c.3451G>T (p.Ala1151Ser)
c.3283G>T (p.Ala1095Ser)
c.3010G>T (p.Ala1004Ser)
c.2860G>T (p.Ala954Ser)
2g.208326281C>ACA350115612PIKFYVEc.3470C>A (p.Ala1157Asp)
c.3302C>A (p.Ala1101Asp)
c.3506C>A (p.Ala1169Asp)
c.3503C>A (p.Ala1168Asp)
c.3488C>A (p.Ala1163Asp)
c.3338C>A (p.Ala1113Asp)
c.3335C>A (p.Ala1112Asp)
c.3320C>A (p.Ala1107Asp)
c.3215C>A (p.Ala1072Asp)
c.3212C>A (p.Ala1071Asp)
c.3179C>A (p.Ala1060Asp)
c.3029C>A (p.Ala1010Asp)
c.2513C>A (p.Ala838Asp)
n.3643C>A
c.3452C>A (p.Ala1151Asp)
c.3284C>A (p.Ala1095Asp)
c.3011C>A (p.Ala1004Asp)
c.2861C>A (p.Ala954Asp)
2g.208326281C>GCA350115613PIKFYVEc.3470C>G (p.Ala1157Gly)
c.3302C>G (p.Ala1101Gly)
c.3506C>G (p.Ala1169Gly)
c.3503C>G (p.Ala1168Gly)
c.3488C>G (p.Ala1163Gly)
c.3338C>G (p.Ala1113Gly)
c.3335C>G (p.Ala1112Gly)
c.3320C>G (p.Ala1107Gly)
c.3215C>G (p.Ala1072Gly)
c.3212C>G (p.Ala1071Gly)
c.3179C>G (p.Ala1060Gly)
c.3029C>G (p.Ala1010Gly)
c.2513C>G (p.Ala838Gly)
n.3643C>G
c.3452C>G (p.Ala1151Gly)
c.3284C>G (p.Ala1095Gly)
c.3011C>G (p.Ala1004Gly)
c.2861C>G (p.Ala954Gly)
2g.208326281C>TCA350115614PIKFYVEc.3470C>T (p.Ala1157Val)
c.3302C>T (p.Ala1101Val)
c.3506C>T (p.Ala1169Val)
c.3503C>T (p.Ala1168Val)
c.3488C>T (p.Ala1163Val)
c.3338C>T (p.Ala1113Val)
c.3335C>T (p.Ala1112Val)
c.3320C>T (p.Ala1107Val)
c.3215C>T (p.Ala1072Val)
c.3212C>T (p.Ala1071Val)
c.3179C>T (p.Ala1060Val)
c.3029C>T (p.Ala1010Val)
c.2513C>T (p.Ala838Val)
n.3643C>T
c.3452C>T (p.Ala1151Val)
c.3284C>T (p.Ala1095Val)
c.3011C>T (p.Ala1004Val)
c.2861C>T (p.Ala954Val)
2g.208326282C>ACA431117033PIKFYVEc.3471C>A (p.Ala1157=)
c.3303C>A (p.Ala1101=)
c.3507C>A (p.Ala1169=)
c.3504C>A (p.Ala1168=)
c.3489C>A (p.Ala1163=)
c.3339C>A (p.Ala1113=)
c.3336C>A (p.Ala1112=)
c.3321C>A (p.Ala1107=)
c.3216C>A (p.Ala1072=)
c.3213C>A (p.Ala1071=)
c.3180C>A (p.Ala1060=)
c.3030C>A (p.Ala1010=)
c.2514C>A (p.Ala838=)
n.3644C>A
c.3453C>A (p.Ala1151=)
c.3285C>A (p.Ala1095=)
c.3012C>A (p.Ala1004=)
c.2862C>A (p.Ala954=)
2g.208326282C>GCA431117034PIKFYVEc.3471C>G (p.Ala1157=)
c.3303C>G (p.Ala1101=)
c.3507C>G (p.Ala1169=)
c.3504C>G (p.Ala1168=)
c.3489C>G (p.Ala1163=)
c.3339C>G (p.Ala1113=)
c.3336C>G (p.Ala1112=)
c.3321C>G (p.Ala1107=)
c.3216C>G (p.Ala1072=)
c.3213C>G (p.Ala1071=)
c.3180C>G (p.Ala1060=)
c.3030C>G (p.Ala1010=)
c.2514C>G (p.Ala838=)
n.3644C>G
c.3453C>G (p.Ala1151=)
c.3285C>G (p.Ala1095=)
c.3012C>G (p.Ala1004=)
c.2862C>G (p.Ala954=)
2g.208326282C>TCA431117035PIKFYVEc.3471C>T (p.Ala1157=)
c.3303C>T (p.Ala1101=)
c.3507C>T (p.Ala1169=)
c.3504C>T (p.Ala1168=)
c.3489C>T (p.Ala1163=)
c.3339C>T (p.Ala1113=)
c.3336C>T (p.Ala1112=)
c.3321C>T (p.Ala1107=)
c.3216C>T (p.Ala1072=)
c.3213C>T (p.Ala1071=)
c.3180C>T (p.Ala1060=)
c.3030C>T (p.Ala1010=)
c.2514C>T (p.Ala838=)
n.3644C>T
c.3453C>T (p.Ala1151=)
c.3285C>T (p.Ala1095=)
c.3012C>T (p.Ala1004=)
c.2862C>T (p.Ala954=)
 gnomAD v4
2g.208326283A>CCA431117036PIKFYVEc.3472A>C (p.Arg1158=)
c.3304A>C (p.Arg1102=)
c.3508A>C (p.Arg1170=)
c.3505A>C (p.Arg1169=)
c.3490A>C (p.Arg1164=)
c.3340A>C (p.Arg1114=)
c.3337A>C (p.Arg1113=)
c.3322A>C (p.Arg1108=)
c.3217A>C (p.Arg1073=)
c.3214A>C (p.Arg1072=)
c.3181A>C (p.Arg1061=)
c.3031A>C (p.Arg1011=)
c.2515A>C (p.Arg839=)
n.3645A>C
c.3454A>C (p.Arg1152=)
c.3286A>C (p.Arg1096=)
c.3013A>C (p.Arg1005=)
c.2863A>C (p.Arg955=)
2g.208326283A>GCA350115615PIKFYVEc.3472A>G (p.Arg1158Gly)
c.3304A>G (p.Arg1102Gly)
c.3508A>G (p.Arg1170Gly)
c.3505A>G (p.Arg1169Gly)
c.3490A>G (p.Arg1164Gly)
c.3340A>G (p.Arg1114Gly)
c.3337A>G (p.Arg1113Gly)
c.3322A>G (p.Arg1108Gly)
c.3217A>G (p.Arg1073Gly)
c.3214A>G (p.Arg1072Gly)
c.3181A>G (p.Arg1061Gly)
c.3031A>G (p.Arg1011Gly)
c.2515A>G (p.Arg839Gly)
n.3645A>G
c.3454A>G (p.Arg1152Gly)
c.3286A>G (p.Arg1096Gly)
c.3013A>G (p.Arg1005Gly)
c.2863A>G (p.Arg955Gly)
2g.208326283A>TCA350115616PIKFYVEc.3472A>T (p.Arg1158Ter)
c.3304A>T (p.Arg1102Ter)
c.3508A>T (p.Arg1170Ter)
c.3505A>T (p.Arg1169Ter)
c.3490A>T (p.Arg1164Ter)
c.3340A>T (p.Arg1114Ter)
c.3337A>T (p.Arg1113Ter)
c.3322A>T (p.Arg1108Ter)
c.3217A>T (p.Arg1073Ter)
c.3214A>T (p.Arg1072Ter)
c.3181A>T (p.Arg1061Ter)
c.3031A>T (p.Arg1011Ter)
c.2515A>T (p.Arg839Ter)
n.3645A>T
c.3454A>T (p.Arg1152Ter)
c.3286A>T (p.Arg1096Ter)
c.3013A>T (p.Arg1005Ter)
c.2863A>T (p.Arg955Ter)
2g.208326284G>ACA350115619PIKFYVEc.3473G>A (p.Arg1158Lys)
c.3305G>A (p.Arg1102Lys)
c.3509G>A (p.Arg1170Lys)
c.3506G>A (p.Arg1169Lys)
c.3491G>A (p.Arg1164Lys)
c.3341G>A (p.Arg1114Lys)
c.3338G>A (p.Arg1113Lys)
c.3323G>A (p.Arg1108Lys)
c.3218G>A (p.Arg1073Lys)
c.3215G>A (p.Arg1072Lys)
c.3182G>A (p.Arg1061Lys)
c.3032G>A (p.Arg1011Lys)
c.2516G>A (p.Arg839Lys)
n.3646G>A
c.3455G>A (p.Arg1152Lys)
c.3287G>A (p.Arg1096Lys)
c.3014G>A (p.Arg1005Lys)
c.2864G>A (p.Arg955Lys)
 COSMIC
2g.208326284G>CCA350115618PIKFYVEc.3473G>C (p.Arg1158Thr)
c.3305G>C (p.Arg1102Thr)
c.3509G>C (p.Arg1170Thr)
c.3506G>C (p.Arg1169Thr)
c.3491G>C (p.Arg1164Thr)
c.3341G>C (p.Arg1114Thr)
c.3338G>C (p.Arg1113Thr)
c.3323G>C (p.Arg1108Thr)
c.3218G>C (p.Arg1073Thr)
c.3215G>C (p.Arg1072Thr)
c.3182G>C (p.Arg1061Thr)
c.3032G>C (p.Arg1011Thr)
c.2516G>C (p.Arg839Thr)
n.3646G>C
c.3455G>C (p.Arg1152Thr)
c.3287G>C (p.Arg1096Thr)
c.3014G>C (p.Arg1005Thr)
c.2864G>C (p.Arg955Thr)
 gnomAD v4
2g.208326284G>TCA350115617PIKFYVEc.3473G>T (p.Arg1158Ile)
c.3305G>T (p.Arg1102Ile)
c.3509G>T (p.Arg1170Ile)
c.3506G>T (p.Arg1169Ile)
c.3491G>T (p.Arg1164Ile)
c.3341G>T (p.Arg1114Ile)
c.3338G>T (p.Arg1113Ile)
c.3323G>T (p.Arg1108Ile)
c.3218G>T (p.Arg1073Ile)
c.3215G>T (p.Arg1072Ile)
c.3182G>T (p.Arg1061Ile)
c.3032G>T (p.Arg1011Ile)
c.2516G>T (p.Arg839Ile)
n.3646G>T
c.3455G>T (p.Arg1152Ile)
c.3287G>T (p.Arg1096Ile)
c.3014G>T (p.Arg1005Ile)
c.2864G>T (p.Arg955Ile)
2g.208326285A=CA1324023445PIKFYVEc.3474A= (p.Arg1158=)
c.3306A= (p.Arg1102=)
c.3510A= (p.Arg1170=)
c.3507A= (p.Arg1169=)
c.3492A= (p.Arg1164=)
c.3342A= (p.Arg1114=)
c.3339A= (p.Arg1113=)
c.3324A= (p.Arg1108=)
c.3219A= (p.Arg1073=)
c.3216A= (p.Arg1072=)
c.3183A= (p.Arg1061=)
c.3033A= (p.Arg1011=)
c.2517A= (p.Arg839=)
n.3647A=
c.3456A= (p.Arg1152=)
c.3288A= (p.Arg1096=)
c.3015A= (p.Arg1005=)
c.2865A= (p.Arg955=)
2g.208326285A>CCA350115620PIKFYVEc.3474A>C (p.Arg1158Ser)
c.3306A>C (p.Arg1102Ser)
c.3510A>C (p.Arg1170Ser)
c.3507A>C (p.Arg1169Ser)
c.3492A>C (p.Arg1164Ser)
c.3342A>C (p.Arg1114Ser)
c.3339A>C (p.Arg1113Ser)
c.3324A>C (p.Arg1108Ser)
c.3219A>C (p.Arg1073Ser)
c.3216A>C (p.Arg1072Ser)
c.3183A>C (p.Arg1061Ser)
c.3033A>C (p.Arg1011Ser)
c.2517A>C (p.Arg839Ser)
n.3647A>C
c.3456A>C (p.Arg1152Ser)
c.3288A>C (p.Arg1096Ser)
c.3015A>C (p.Arg1005Ser)
c.2865A>C (p.Arg955Ser)
2g.208326285A>GCA64596728PIKFYVEc.3474A>G (p.Arg1158=)
c.3306A>G (p.Arg1102=)
c.3510A>G (p.Arg1170=)
c.3507A>G (p.Arg1169=)
c.3492A>G (p.Arg1164=)
c.3342A>G (p.Arg1114=)
c.3339A>G (p.Arg1113=)
c.3324A>G (p.Arg1108=)
c.3219A>G (p.Arg1073=)
c.3216A>G (p.Arg1072=)
c.3183A>G (p.Arg1061=)
c.3033A>G (p.Arg1011=)
c.2517A>G (p.Arg839=)
n.3647A>G
c.3456A>G (p.Arg1152=)
c.3288A>G (p.Arg1096=)
c.3015A>G (p.Arg1005=)
c.2865A>G (p.Arg955=)
 dbSNP
2g.208326285A>TCA350115621PIKFYVEc.3474A>T (p.Arg1158Ser)
c.3306A>T (p.Arg1102Ser)
c.3510A>T (p.Arg1170Ser)
c.3507A>T (p.Arg1169Ser)
c.3492A>T (p.Arg1164Ser)
c.3342A>T (p.Arg1114Ser)
c.3339A>T (p.Arg1113Ser)
c.3324A>T (p.Arg1108Ser)
c.3219A>T (p.Arg1073Ser)
c.3216A>T (p.Arg1072Ser)
c.3183A>T (p.Arg1061Ser)
c.3033A>T (p.Arg1011Ser)
c.2517A>T (p.Arg839Ser)
n.3647A>T
c.3456A>T (p.Arg1152Ser)
c.3288A>T (p.Arg1096Ser)
c.3015A>T (p.Arg1005Ser)
c.2865A>T (p.Arg955Ser)
2g.208326286G>ACA2080041PIKFYVEc.3475G>A (p.Gly1159Arg)
c.3307G>A (p.Gly1103Arg)
c.3511G>A (p.Gly1171Arg)
c.3508G>A (p.Gly1170Arg)
c.3493G>A (p.Gly1165Arg)
c.3343G>A (p.Gly1115Arg)
c.3340G>A (p.Gly1114Arg)
c.3325G>A (p.Gly1109Arg)
c.3220G>A (p.Gly1074Arg)
c.3217G>A (p.Gly1073Arg)
c.3184G>A (p.Gly1062Arg)
c.3034G>A (p.Gly1012Arg)
c.2518G>A (p.Gly840Arg)
n.3648G>A
c.3457G>A (p.Gly1153Arg)
c.3289G>A (p.Gly1097Arg)
c.3016G>A (p.Gly1006Arg)
c.2866G>A (p.Gly956Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.208326286G>CCA350115622PIKFYVEc.3475G>C (p.Gly1159Arg)
c.3307G>C (p.Gly1103Arg)
c.3511G>C (p.Gly1171Arg)
c.3508G>C (p.Gly1170Arg)
c.3493G>C (p.Gly1165Arg)
c.3343G>C (p.Gly1115Arg)
c.3340G>C (p.Gly1114Arg)
c.3325G>C (p.Gly1109Arg)
c.3220G>C (p.Gly1074Arg)
c.3217G>C (p.Gly1073Arg)
c.3184G>C (p.Gly1062Arg)
c.3034G>C (p.Gly1012Arg)
c.2518G>C (p.Gly840Arg)
n.3648G>C
c.3457G>C (p.Gly1153Arg)
c.3289G>C (p.Gly1097Arg)
c.3016G>C (p.Gly1006Arg)
c.2866G>C (p.Gly956Arg)
2g.208326286G=CA1324023446PIKFYVEc.3475G= (p.Gly1159=)
c.3307G= (p.Gly1103=)
c.3511G= (p.Gly1171=)
c.3508G= (p.Gly1170=)
c.3493G= (p.Gly1165=)
c.3343G= (p.Gly1115=)
c.3340G= (p.Gly1114=)
c.3325G= (p.Gly1109=)
c.3220G= (p.Gly1074=)
c.3217G= (p.Gly1073=)
c.3184G= (p.Gly1062=)
c.3034G= (p.Gly1012=)
c.2518G= (p.Gly840=)
n.3648G=
c.3457G= (p.Gly1153=)
c.3289G= (p.Gly1097=)
c.3016G= (p.Gly1006=)
c.2866G= (p.Gly956=)
2g.208326286G>TCA350115623PIKFYVEc.3475G>T (p.Gly1159Ter)
c.3307G>T (p.Gly1103Ter)
c.3511G>T (p.Gly1171Ter)
c.3508G>T (p.Gly1170Ter)
c.3493G>T (p.Gly1165Ter)
c.3343G>T (p.Gly1115Ter)
c.3340G>T (p.Gly1114Ter)
c.3325G>T (p.Gly1109Ter)
c.3220G>T (p.Gly1074Ter)
c.3217G>T (p.Gly1073Ter)
c.3184G>T (p.Gly1062Ter)
c.3034G>T (p.Gly1012Ter)
c.2518G>T (p.Gly840Ter)
n.3648G>T
c.3457G>T (p.Gly1153Ter)
c.3289G>T (p.Gly1097Ter)
c.3016G>T (p.Gly1006Ter)
c.2866G>T (p.Gly956Ter)
2g.208326287delCA2662880190PIKFYVEc.3476del (p.Gly1159GlufsTer?)
c.3308del (p.Gly1103GlufsTer?)
c.3512del (p.Gly1171GlufsTer?)
c.3509del (p.Gly1170GlufsTer?)
c.3494del (p.Gly1165GlufsTer?)
c.3344del (p.Gly1115GlufsTer?)
c.3341del (p.Gly1114GlufsTer?)
c.3326del (p.Gly1109GlufsTer?)
c.3221del (p.Gly1074GlufsTer?)
c.3218del (p.Gly1073GlufsTer?)
c.3185del (p.Gly1062GlufsTer?)
c.3035del (p.Gly1012GlufsTer?)
c.2519del (p.Gly840GlufsTer?)
n.3649del
c.3458del (p.Gly1153GlufsTer?)
c.3290del (p.Gly1097GlufsTer?)
c.3017del (p.Gly1006GlufsTer?)
c.2867del (p.Gly956GlufsTer?)
 gnomAD v4
2g.208326287G>ACA350115626PIKFYVEc.3476G>A (p.Gly1159Glu)
c.3308G>A (p.Gly1103Glu)
c.3512G>A (p.Gly1171Glu)
c.3509G>A (p.Gly1170Glu)
c.3494G>A (p.Gly1165Glu)
c.3344G>A (p.Gly1115Glu)
c.3341G>A (p.Gly1114Glu)
c.3326G>A (p.Gly1109Glu)
c.3221G>A (p.Gly1074Glu)
c.3218G>A (p.Gly1073Glu)
c.3185G>A (p.Gly1062Glu)
c.3035G>A (p.Gly1012Glu)
c.2519G>A (p.Gly840Glu)
n.3649G>A
c.3458G>A (p.Gly1153Glu)
c.3290G>A (p.Gly1097Glu)
c.3017G>A (p.Gly1006Glu)
c.2867G>A (p.Gly956Glu)
2g.208326287G>CCA350115624PIKFYVEc.3476G>C (p.Gly1159Ala)
c.3308G>C (p.Gly1103Ala)
c.3512G>C (p.Gly1171Ala)
c.3509G>C (p.Gly1170Ala)
c.3494G>C (p.Gly1165Ala)
c.3344G>C (p.Gly1115Ala)
c.3341G>C (p.Gly1114Ala)
c.3326G>C (p.Gly1109Ala)
c.3221G>C (p.Gly1074Ala)
c.3218G>C (p.Gly1073Ala)
c.3185G>C (p.Gly1062Ala)
c.3035G>C (p.Gly1012Ala)
c.2519G>C (p.Gly840Ala)
n.3649G>C
c.3458G>C (p.Gly1153Ala)
c.3290G>C (p.Gly1097Ala)
c.3017G>C (p.Gly1006Ala)
c.2867G>C (p.Gly956Ala)
2g.208326287G>TCA350115625PIKFYVEc.3476G>T (p.Gly1159Val)
c.3308G>T (p.Gly1103Val)
c.3512G>T (p.Gly1171Val)
c.3509G>T (p.Gly1170Val)
c.3494G>T (p.Gly1165Val)
c.3344G>T (p.Gly1115Val)
c.3341G>T (p.Gly1114Val)
c.3326G>T (p.Gly1109Val)
c.3221G>T (p.Gly1074Val)
c.3218G>T (p.Gly1073Val)
c.3185G>T (p.Gly1062Val)
c.3035G>T (p.Gly1012Val)
c.2519G>T (p.Gly840Val)
n.3649G>T
c.3458G>T (p.Gly1153Val)
c.3290G>T (p.Gly1097Val)
c.3017G>T (p.Gly1006Val)
c.2867G>T (p.Gly956Val)
2g.208326288A>CCA431117038PIKFYVEc.3477A>C (p.Gly1159=)
c.3309A>C (p.Gly1103=)
c.3513A>C (p.Gly1171=)
c.3510A>C (p.Gly1170=)
c.3495A>C (p.Gly1165=)
c.3345A>C (p.Gly1115=)
c.3342A>C (p.Gly1114=)
c.3327A>C (p.Gly1109=)
c.3222A>C (p.Gly1074=)
c.3219A>C (p.Gly1073=)
c.3186A>C (p.Gly1062=)
c.3036A>C (p.Gly1012=)
c.2520A>C (p.Gly840=)
n.3650A>C
c.3459A>C (p.Gly1153=)
c.3291A>C (p.Gly1097=)
c.3018A>C (p.Gly1006=)
c.2868A>C (p.Gly956=)
2g.208326288A>GCA431117039PIKFYVEc.3477A>G (p.Gly1159=)
c.3309A>G (p.Gly1103=)
c.3513A>G (p.Gly1171=)
c.3510A>G (p.Gly1170=)
c.3495A>G (p.Gly1165=)
c.3345A>G (p.Gly1115=)
c.3342A>G (p.Gly1114=)
c.3327A>G (p.Gly1109=)
c.3222A>G (p.Gly1074=)
c.3219A>G (p.Gly1073=)
c.3186A>G (p.Gly1062=)
c.3036A>G (p.Gly1012=)
c.2520A>G (p.Gly840=)
n.3650A>G
c.3459A>G (p.Gly1153=)
c.3291A>G (p.Gly1097=)
c.3018A>G (p.Gly1006=)
c.2868A>G (p.Gly956=)
2g.208326288A>TCA431117040PIKFYVEc.3477A>T (p.Gly1159=)
c.3309A>T (p.Gly1103=)
c.3513A>T (p.Gly1171=)
c.3510A>T (p.Gly1170=)
c.3495A>T (p.Gly1165=)
c.3345A>T (p.Gly1115=)
c.3342A>T (p.Gly1114=)
c.3327A>T (p.Gly1109=)
c.3222A>T (p.Gly1074=)
c.3219A>T (p.Gly1073=)
c.3186A>T (p.Gly1062=)
c.3036A>T (p.Gly1012=)
c.2520A>T (p.Gly840=)
n.3650A>T
c.3459A>T (p.Gly1153=)
c.3291A>T (p.Gly1097=)
c.3018A>T (p.Gly1006=)
c.2868A>T (p.Gly956=)
2g.208326289G>ACA350115627PIKFYVEc.3478G>A (p.Gly1160Arg)
c.3310G>A (p.Gly1104Arg)
c.3514G>A (p.Gly1172Arg)
c.3511G>A (p.Gly1171Arg)
c.3496G>A (p.Gly1166Arg)
c.3346G>A (p.Gly1116Arg)
c.3343G>A (p.Gly1115Arg)
c.3328G>A (p.Gly1110Arg)
c.3223G>A (p.Gly1075Arg)
c.3220G>A (p.Gly1074Arg)
c.3187G>A (p.Gly1063Arg)
c.3037G>A (p.Gly1013Arg)
c.2521G>A (p.Gly841Arg)
n.3651G>A
c.3460G>A (p.Gly1154Arg)
c.3292G>A (p.Gly1098Arg)
c.3019G>A (p.Gly1007Arg)
c.2869G>A (p.Gly957Arg)
 gnomAD v4
2g.208326289G>CCA350115628PIKFYVEc.3478G>C (p.Gly1160Arg)
c.3310G>C (p.Gly1104Arg)
c.3514G>C (p.Gly1172Arg)
c.3511G>C (p.Gly1171Arg)
c.3496G>C (p.Gly1166Arg)
c.3346G>C (p.Gly1116Arg)
c.3343G>C (p.Gly1115Arg)
c.3328G>C (p.Gly1110Arg)
c.3223G>C (p.Gly1075Arg)
c.3220G>C (p.Gly1074Arg)
c.3187G>C (p.Gly1063Arg)
c.3037G>C (p.Gly1013Arg)
c.2521G>C (p.Gly841Arg)
n.3651G>C
c.3460G>C (p.Gly1154Arg)
c.3292G>C (p.Gly1098Arg)
c.3019G>C (p.Gly1007Arg)
c.2869G>C (p.Gly957Arg)
2g.208326289G>TCA350115629PIKFYVEc.3478G>T (p.Gly1160Ter)
c.3310G>T (p.Gly1104Ter)
c.3514G>T (p.Gly1172Ter)
c.3511G>T (p.Gly1171Ter)
c.3496G>T (p.Gly1166Ter)
c.3346G>T (p.Gly1116Ter)
c.3343G>T (p.Gly1115Ter)
c.3328G>T (p.Gly1110Ter)
c.3223G>T (p.Gly1075Ter)
c.3220G>T (p.Gly1074Ter)
c.3187G>T (p.Gly1063Ter)
c.3037G>T (p.Gly1013Ter)
c.2521G>T (p.Gly841Ter)
n.3651G>T
c.3460G>T (p.Gly1154Ter)
c.3292G>T (p.Gly1098Ter)
c.3019G>T (p.Gly1007Ter)
c.2869G>T (p.Gly957Ter)
2g.208326290G>ACA350115630PIKFYVEc.3479G>A (p.Gly1160Glu)
c.3311G>A (p.Gly1104Glu)
c.3515G>A (p.Gly1172Glu)
c.3512G>A (p.Gly1171Glu)
c.3497G>A (p.Gly1166Glu)
c.3347G>A (p.Gly1116Glu)
c.3344G>A (p.Gly1115Glu)
c.3329G>A (p.Gly1110Glu)
c.3224G>A (p.Gly1075Glu)
c.3221G>A (p.Gly1074Glu)
c.3188G>A (p.Gly1063Glu)
c.3038G>A (p.Gly1013Glu)
c.2522G>A (p.Gly841Glu)
n.3652G>A
c.3461G>A (p.Gly1154Glu)
c.3293G>A (p.Gly1098Glu)
c.3020G>A (p.Gly1007Glu)
c.2870G>A (p.Gly957Glu)
2g.208326290G>CCA350115631PIKFYVEc.3479G>C (p.Gly1160Ala)
c.3311G>C (p.Gly1104Ala)
c.3515G>C (p.Gly1172Ala)
c.3512G>C (p.Gly1171Ala)
c.3497G>C (p.Gly1166Ala)
c.3347G>C (p.Gly1116Ala)
c.3344G>C (p.Gly1115Ala)
c.3329G>C (p.Gly1110Ala)
c.3224G>C (p.Gly1075Ala)
c.3221G>C (p.Gly1074Ala)
c.3188G>C (p.Gly1063Ala)
c.3038G>C (p.Gly1013Ala)
c.2522G>C (p.Gly841Ala)
n.3652G>C
c.3461G>C (p.Gly1154Ala)
c.3293G>C (p.Gly1098Ala)
c.3020G>C (p.Gly1007Ala)
c.2870G>C (p.Gly957Ala)
 dbSNP gnomAD v2 gnomAD v4
2g.208326290G=CA1324023447PIKFYVEc.3479G= (p.Gly1160=)
c.3311G= (p.Gly1104=)
c.3515G= (p.Gly1172=)
c.3512G= (p.Gly1171=)
c.3497G= (p.Gly1166=)
c.3347G= (p.Gly1116=)
c.3344G= (p.Gly1115=)
c.3329G= (p.Gly1110=)
c.3224G= (p.Gly1075=)
c.3221G= (p.Gly1074=)
c.3188G= (p.Gly1063=)
c.3038G= (p.Gly1013=)
c.2522G= (p.Gly841=)
n.3652G=
c.3461G= (p.Gly1154=)
c.3293G= (p.Gly1098=)
c.3020G= (p.Gly1007=)
c.2870G= (p.Gly957=)
2g.208326290G>TCA350115632PIKFYVEc.3479G>T (p.Gly1160Val)
c.3311G>T (p.Gly1104Val)
c.3515G>T (p.Gly1172Val)
c.3512G>T (p.Gly1171Val)
c.3497G>T (p.Gly1166Val)
c.3347G>T (p.Gly1116Val)
c.3344G>T (p.Gly1115Val)
c.3329G>T (p.Gly1110Val)
c.3224G>T (p.Gly1075Val)
c.3221G>T (p.Gly1074Val)
c.3188G>T (p.Gly1063Val)
c.3038G>T (p.Gly1013Val)
c.2522G>T (p.Gly841Val)
n.3652G>T
c.3461G>T (p.Gly1154Val)
c.3293G>T (p.Gly1098Val)
c.3020G>T (p.Gly1007Val)
c.2870G>T (p.Gly957Val)
2g.208326293_208326295delCA2662880194PIKFYVEc.3482_3484del (p.Arg1161del)
c.3314_3316del (p.Arg1105del)
c.3518_3520del (p.Arg1173del)
c.3515_3517del (p.Arg1172del)
c.3500_3502del (p.Arg1167del)
c.3350_3352del (p.Arg1117del)
c.3347_3349del (p.Arg1116del)
c.3332_3334del (p.Arg1111del)
c.3227_3229del (p.Arg1076del)
c.3224_3226del (p.Arg1075del)
c.3191_3193del (p.Arg1064del)
c.3041_3043del (p.Arg1014del)
c.2525_2527del (p.Arg842del)
n.3655_3657del
c.3464_3466del (p.Arg1155del)
c.3296_3298del (p.Arg1099del)
c.3023_3025del (p.Arg1008del)
c.2873_2875del (p.Arg958del)
 gnomAD v4
2g.208326291A>CCA431117044PIKFYVEc.3480A>C (p.Gly1160=)
c.3312A>C (p.Gly1104=)
c.3516A>C (p.Gly1172=)
c.3513A>C (p.Gly1171=)
c.3498A>C (p.Gly1166=)
c.3348A>C (p.Gly1116=)
c.3345A>C (p.Gly1115=)
c.3330A>C (p.Gly1110=)
c.3225A>C (p.Gly1075=)
c.3222A>C (p.Gly1074=)
c.3189A>C (p.Gly1063=)
c.3039A>C (p.Gly1013=)
c.2523A>C (p.Gly841=)
n.3653A>C
c.3462A>C (p.Gly1154=)
c.3294A>C (p.Gly1098=)
c.3021A>C (p.Gly1007=)
c.2871A>C (p.Gly957=)
2g.208326291A>GCA431117045PIKFYVEc.3480A>G (p.Gly1160=)
c.3312A>G (p.Gly1104=)
c.3516A>G (p.Gly1172=)
c.3513A>G (p.Gly1171=)
c.3498A>G (p.Gly1166=)
c.3348A>G (p.Gly1116=)
c.3345A>G (p.Gly1115=)
c.3330A>G (p.Gly1110=)
c.3225A>G (p.Gly1075=)
c.3222A>G (p.Gly1074=)
c.3189A>G (p.Gly1063=)
c.3039A>G (p.Gly1013=)
c.2523A>G (p.Gly841=)
n.3653A>G
c.3462A>G (p.Gly1154=)
c.3294A>G (p.Gly1098=)
c.3021A>G (p.Gly1007=)
c.2871A>G (p.Gly957=)
 gnomAD v4
2g.208326291A>TCA431117047PIKFYVEc.3480A>T (p.Gly1160=)
c.3312A>T (p.Gly1104=)
c.3516A>T (p.Gly1172=)
c.3513A>T (p.Gly1171=)
c.3498A>T (p.Gly1166=)
c.3348A>T (p.Gly1116=)
c.3345A>T (p.Gly1115=)
c.3330A>T (p.Gly1110=)
c.3225A>T (p.Gly1075=)
c.3222A>T (p.Gly1074=)
c.3189A>T (p.Gly1063=)
c.3039A>T (p.Gly1013=)
c.2523A>T (p.Gly841=)
n.3653A>T
c.3462A>T (p.Gly1154=)
c.3294A>T (p.Gly1098=)
c.3021A>T (p.Gly1007=)
c.2871A>T (p.Gly957=)
2g.208326292A>CCA431117048PIKFYVEc.3481A>C (p.Arg1161=)
c.3313A>C (p.Arg1105=)
c.3517A>C (p.Arg1173=)
c.3514A>C (p.Arg1172=)
c.3499A>C (p.Arg1167=)
c.3349A>C (p.Arg1117=)
c.3346A>C (p.Arg1116=)
c.3331A>C (p.Arg1111=)
c.3226A>C (p.Arg1076=)
c.3223A>C (p.Arg1075=)
c.3190A>C (p.Arg1064=)
c.3040A>C (p.Arg1014=)
c.2524A>C (p.Arg842=)
n.3654A>C
c.3463A>C (p.Arg1155=)
c.3295A>C (p.Arg1099=)
c.3022A>C (p.Arg1008=)
c.2872A>C (p.Arg958=)
2g.208326292A>GCA350115633PIKFYVEc.3481A>G (p.Arg1161Gly)
c.3313A>G (p.Arg1105Gly)
c.3517A>G (p.Arg1173Gly)
c.3514A>G (p.Arg1172Gly)
c.3499A>G (p.Arg1167Gly)
c.3349A>G (p.Arg1117Gly)
c.3346A>G (p.Arg1116Gly)
c.3331A>G (p.Arg1111Gly)
c.3226A>G (p.Arg1076Gly)
c.3223A>G (p.Arg1075Gly)
c.3190A>G (p.Arg1064Gly)
c.3040A>G (p.Arg1014Gly)
c.2524A>G (p.Arg842Gly)
n.3654A>G
c.3463A>G (p.Arg1155Gly)
c.3295A>G (p.Arg1099Gly)
c.3022A>G (p.Arg1008Gly)
c.2872A>G (p.Arg958Gly)
 gnomAD v4
2g.208326292A>TCA350115634PIKFYVEc.3481A>T (p.Arg1161Ter)
c.3313A>T (p.Arg1105Ter)
c.3517A>T (p.Arg1173Ter)
c.3514A>T (p.Arg1172Ter)
c.3499A>T (p.Arg1167Ter)
c.3349A>T (p.Arg1117Ter)
c.3346A>T (p.Arg1116Ter)
c.3331A>T (p.Arg1111Ter)
c.3226A>T (p.Arg1076Ter)
c.3223A>T (p.Arg1075Ter)
c.3190A>T (p.Arg1064Ter)
c.3040A>T (p.Arg1014Ter)
c.2524A>T (p.Arg842Ter)
n.3654A>T
c.3463A>T (p.Arg1155Ter)
c.3295A>T (p.Arg1099Ter)
c.3022A>T (p.Arg1008Ter)
c.2872A>T (p.Arg958Ter)
2g.208326293G>ACA2080042PIKFYVEc.3482G>A (p.Arg1161Lys)
c.3314G>A (p.Arg1105Lys)
c.3518G>A (p.Arg1173Lys)
c.3515G>A (p.Arg1172Lys)
c.3500G>A (p.Arg1167Lys)
c.3350G>A (p.Arg1117Lys)
c.3347G>A (p.Arg1116Lys)
c.3332G>A (p.Arg1111Lys)
c.3227G>A (p.Arg1076Lys)
c.3224G>A (p.Arg1075Lys)
c.3191G>A (p.Arg1064Lys)
c.3041G>A (p.Arg1014Lys)
c.2525G>A (p.Arg842Lys)
n.3655G>A
c.3464G>A (p.Arg1155Lys)
c.3296G>A (p.Arg1099Lys)
c.3023G>A (p.Arg1008Lys)
c.2873G>A (p.Arg958Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.208326293G>CCA350115635PIKFYVEc.3482G>C (p.Arg1161Thr)
c.3314G>C (p.Arg1105Thr)
c.3518G>C (p.Arg1173Thr)
c.3515G>C (p.Arg1172Thr)
c.3500G>C (p.Arg1167Thr)
c.3350G>C (p.Arg1117Thr)
c.3347G>C (p.Arg1116Thr)
c.3332G>C (p.Arg1111Thr)
c.3227G>C (p.Arg1076Thr)
c.3224G>C (p.Arg1075Thr)
c.3191G>C (p.Arg1064Thr)
c.3041G>C (p.Arg1014Thr)
c.2525G>C (p.Arg842Thr)
n.3655G>C
c.3464G>C (p.Arg1155Thr)
c.3296G>C (p.Arg1099Thr)
c.3023G>C (p.Arg1008Thr)
c.2873G>C (p.Arg958Thr)
2g.208326293G=CA1324023448PIKFYVEc.3482G= (p.Arg1161=)
c.3314G= (p.Arg1105=)
c.3518G= (p.Arg1173=)
c.3515G= (p.Arg1172=)
c.3500G= (p.Arg1167=)
c.3350G= (p.Arg1117=)
c.3347G= (p.Arg1116=)
c.3332G= (p.Arg1111=)
c.3227G= (p.Arg1076=)
c.3224G= (p.Arg1075=)
c.3191G= (p.Arg1064=)
c.3041G= (p.Arg1014=)
c.2525G= (p.Arg842=)
n.3655G=
c.3464G= (p.Arg1155=)
c.3296G= (p.Arg1099=)
c.3023G= (p.Arg1008=)
c.2873G= (p.Arg958=)
2g.208326293G>TCA350115636PIKFYVEc.3482G>T (p.Arg1161Ile)
c.3314G>T (p.Arg1105Ile)
c.3518G>T (p.Arg1173Ile)
c.3515G>T (p.Arg1172Ile)
c.3500G>T (p.Arg1167Ile)
c.3350G>T (p.Arg1117Ile)
c.3347G>T (p.Arg1116Ile)
c.3332G>T (p.Arg1111Ile)
c.3227G>T (p.Arg1076Ile)
c.3224G>T (p.Arg1075Ile)
c.3191G>T (p.Arg1064Ile)
c.3041G>T (p.Arg1014Ile)
c.2525G>T (p.Arg842Ile)
n.3655G>T
c.3464G>T (p.Arg1155Ile)
c.3296G>T (p.Arg1099Ile)
c.3023G>T (p.Arg1008Ile)
c.2873G>T (p.Arg958Ile)
 COSMIC
2g.208326294A>CCA350115637PIKFYVEc.3483A>C (p.Arg1161Ser)
c.3315A>C (p.Arg1105Ser)
c.3519A>C (p.Arg1173Ser)
c.3516A>C (p.Arg1172Ser)
c.3501A>C (p.Arg1167Ser)
c.3351A>C (p.Arg1117Ser)
c.3348A>C (p.Arg1116Ser)
c.3333A>C (p.Arg1111Ser)
c.3228A>C (p.Arg1076Ser)
c.3225A>C (p.Arg1075Ser)
c.3192A>C (p.Arg1064Ser)
c.3042A>C (p.Arg1014Ser)
c.2526A>C (p.Arg842Ser)
n.3656A>C
c.3465A>C (p.Arg1155Ser)
c.3297A>C (p.Arg1099Ser)
c.3024A>C (p.Arg1008Ser)
c.2874A>C (p.Arg958Ser)
2g.208326294A>GCA431117051PIKFYVEc.3483A>G (p.Arg1161=)
c.3315A>G (p.Arg1105=)
c.3519A>G (p.Arg1173=)
c.3516A>G (p.Arg1172=)
c.3501A>G (p.Arg1167=)
c.3351A>G (p.Arg1117=)
c.3348A>G (p.Arg1116=)
c.3333A>G (p.Arg1111=)
c.3228A>G (p.Arg1076=)
c.3225A>G (p.Arg1075=)
c.3192A>G (p.Arg1064=)
c.3042A>G (p.Arg1014=)
c.2526A>G (p.Arg842=)
n.3656A>G
c.3465A>G (p.Arg1155=)
c.3297A>G (p.Arg1099=)
c.3024A>G (p.Arg1008=)
c.2874A>G (p.Arg958=)
2g.208326294A>TCA350115638PIKFYVEc.3483A>T (p.Arg1161Ser)
c.3315A>T (p.Arg1105Ser)
c.3519A>T (p.Arg1173Ser)
c.3516A>T (p.Arg1172Ser)
c.3501A>T (p.Arg1167Ser)
c.3351A>T (p.Arg1117Ser)
c.3348A>T (p.Arg1116Ser)
c.3333A>T (p.Arg1111Ser)
c.3228A>T (p.Arg1076Ser)
c.3225A>T (p.Arg1075Ser)
c.3192A>T (p.Arg1064Ser)
c.3042A>T (p.Arg1014Ser)
c.2526A>T (p.Arg842Ser)
n.3656A>T
c.3465A>T (p.Arg1155Ser)
c.3297A>T (p.Arg1099Ser)
c.3024A>T (p.Arg1008Ser)
c.2874A>T (p.Arg958Ser)
2g.208326295A>CCA350115639PIKFYVEc.3484A>C (p.Ile1162Leu)
c.3316A>C (p.Ile1106Leu)
c.3520A>C (p.Ile1174Leu)
c.3517A>C (p.Ile1173Leu)
c.3502A>C (p.Ile1168Leu)
c.3352A>C (p.Ile1118Leu)
c.3349A>C (p.Ile1117Leu)
c.3334A>C (p.Ile1112Leu)
c.3229A>C (p.Ile1077Leu)
c.3226A>C (p.Ile1076Leu)
c.3193A>C (p.Ile1065Leu)
c.3043A>C (p.Ile1015Leu)
c.2527A>C (p.Ile843Leu)
n.3657A>C
c.3466A>C (p.Ile1156Leu)
c.3298A>C (p.Ile1100Leu)
c.3025A>C (p.Ile1009Leu)
c.2875A>C (p.Ile959Leu)
2g.208326295A>GCA350115641PIKFYVEc.3484A>G (p.Ile1162Val)
c.3316A>G (p.Ile1106Val)
c.3520A>G (p.Ile1174Val)
c.3517A>G (p.Ile1173Val)
c.3502A>G (p.Ile1168Val)
c.3352A>G (p.Ile1118Val)
c.3349A>G (p.Ile1117Val)
c.3334A>G (p.Ile1112Val)
c.3229A>G (p.Ile1077Val)
c.3226A>G (p.Ile1076Val)
c.3193A>G (p.Ile1065Val)
c.3043A>G (p.Ile1015Val)
c.2527A>G (p.Ile843Val)
n.3657A>G
c.3466A>G (p.Ile1156Val)
c.3298A>G (p.Ile1100Val)
c.3025A>G (p.Ile1009Val)
c.2875A>G (p.Ile959Val)
 gnomAD v4
2g.208326295A>TCA350115640PIKFYVEc.3484A>T (p.Ile1162Phe)
c.3316A>T (p.Ile1106Phe)
c.3520A>T (p.Ile1174Phe)
c.3517A>T (p.Ile1173Phe)
c.3502A>T (p.Ile1168Phe)
c.3352A>T (p.Ile1118Phe)
c.3349A>T (p.Ile1117Phe)
c.3334A>T (p.Ile1112Phe)
c.3229A>T (p.Ile1077Phe)
c.3226A>T (p.Ile1076Phe)
c.3193A>T (p.Ile1065Phe)
c.3043A>T (p.Ile1015Phe)
c.2527A>T (p.Ile843Phe)
n.3657A>T
c.3466A>T (p.Ile1156Phe)
c.3298A>T (p.Ile1100Phe)
c.3025A>T (p.Ile1009Phe)
c.2875A>T (p.Ile959Phe)
2g.208326296T>ACA350115642PIKFYVEc.3485T>A (p.Ile1162Asn)
c.3317T>A (p.Ile1106Asn)
c.3521T>A (p.Ile1174Asn)
c.3518T>A (p.Ile1173Asn)
c.3503T>A (p.Ile1168Asn)
c.3353T>A (p.Ile1118Asn)
c.3350T>A (p.Ile1117Asn)
c.3335T>A (p.Ile1112Asn)
c.3230T>A (p.Ile1077Asn)
c.3227T>A (p.Ile1076Asn)
c.3194T>A (p.Ile1065Asn)
c.3044T>A (p.Ile1015Asn)
c.2528T>A (p.Ile843Asn)
n.3658T>A
c.3467T>A (p.Ile1156Asn)
c.3299T>A (p.Ile1100Asn)
c.3026T>A (p.Ile1009Asn)
c.2876T>A (p.Ile959Asn)
2g.208326296T>CCA350115643PIKFYVEc.3485T>C (p.Ile1162Thr)
c.3317T>C (p.Ile1106Thr)
c.3521T>C (p.Ile1174Thr)
c.3518T>C (p.Ile1173Thr)
c.3503T>C (p.Ile1168Thr)
c.3353T>C (p.Ile1118Thr)
c.3350T>C (p.Ile1117Thr)
c.3335T>C (p.Ile1112Thr)
c.3230T>C (p.Ile1077Thr)
c.3227T>C (p.Ile1076Thr)
c.3194T>C (p.Ile1065Thr)
c.3044T>C (p.Ile1015Thr)
c.2528T>C (p.Ile843Thr)
n.3658T>C
c.3467T>C (p.Ile1156Thr)
c.3299T>C (p.Ile1100Thr)
c.3026T>C (p.Ile1009Thr)
c.2876T>C (p.Ile959Thr)
 gnomAD v4
2g.208326296T>GCA350115644PIKFYVEc.3485T>G (p.Ile1162Ser)
c.3317T>G (p.Ile1106Ser)
c.3521T>G (p.Ile1174Ser)
c.3518T>G (p.Ile1173Ser)
c.3503T>G (p.Ile1168Ser)
c.3353T>G (p.Ile1118Ser)
c.3350T>G (p.Ile1117Ser)
c.3335T>G (p.Ile1112Ser)
c.3230T>G (p.Ile1077Ser)
c.3227T>G (p.Ile1076Ser)
c.3194T>G (p.Ile1065Ser)
c.3044T>G (p.Ile1015Ser)
c.2528T>G (p.Ile843Ser)
n.3658T>G
c.3467T>G (p.Ile1156Ser)
c.3299T>G (p.Ile1100Ser)
c.3026T>G (p.Ile1009Ser)
c.2876T>G (p.Ile959Ser)
2g.208326297T>ACA431117053PIKFYVEc.3486T>A (p.Ile1162=)
c.3318T>A (p.Ile1106=)
c.3522T>A (p.Ile1174=)
c.3519T>A (p.Ile1173=)
c.3504T>A (p.Ile1168=)
c.3354T>A (p.Ile1118=)
c.3351T>A (p.Ile1117=)
c.3336T>A (p.Ile1112=)
c.3231T>A (p.Ile1077=)
c.3228T>A (p.Ile1076=)
c.3195T>A (p.Ile1065=)
c.3045T>A (p.Ile1015=)
c.2529T>A (p.Ile843=)
n.3659T>A
c.3468T>A (p.Ile1156=)
c.3300T>A (p.Ile1100=)
c.3027T>A (p.Ile1009=)
c.2877T>A (p.Ile959=)
2g.208326297T>CCA431117054PIKFYVEc.3486T>C (p.Ile1162=)
c.3318T>C (p.Ile1106=)
c.3522T>C (p.Ile1174=)
c.3519T>C (p.Ile1173=)
c.3504T>C (p.Ile1168=)
c.3354T>C (p.Ile1118=)
c.3351T>C (p.Ile1117=)
c.3336T>C (p.Ile1112=)
c.3231T>C (p.Ile1077=)
c.3228T>C (p.Ile1076=)
c.3195T>C (p.Ile1065=)
c.3045T>C (p.Ile1015=)
c.2529T>C (p.Ile843=)
n.3659T>C
c.3468T>C (p.Ile1156=)
c.3300T>C (p.Ile1100=)
c.3027T>C (p.Ile1009=)
c.2877T>C (p.Ile959=)
2g.208326297T>GCA350115645PIKFYVEc.3486T>G (p.Ile1162Met)
c.3318T>G (p.Ile1106Met)
c.3522T>G (p.Ile1174Met)
c.3519T>G (p.Ile1173Met)
c.3504T>G (p.Ile1168Met)
c.3354T>G (p.Ile1118Met)
c.3351T>G (p.Ile1117Met)
c.3336T>G (p.Ile1112Met)
c.3231T>G (p.Ile1077Met)
c.3228T>G (p.Ile1076Met)
c.3195T>G (p.Ile1065Met)
c.3045T>G (p.Ile1015Met)
c.2529T>G (p.Ile843Met)
n.3659T>G
c.3468T>G (p.Ile1156Met)
c.3300T>G (p.Ile1100Met)
c.3027T>G (p.Ile1009Met)
c.2877T>G (p.Ile959Met)
2g.208326298C>ACA350115646PIKFYVEc.3487C>A (p.Gln1163Lys)
c.3319C>A (p.Gln1107Lys)
c.3523C>A (p.Gln1175Lys)
c.3520C>A (p.Gln1174Lys)
c.3505C>A (p.Gln1169Lys)
c.3355C>A (p.Gln1119Lys)
c.3352C>A (p.Gln1118Lys)
c.3337C>A (p.Gln1113Lys)
c.3232C>A (p.Gln1078Lys)
c.3229C>A (p.Gln1077Lys)
c.3196C>A (p.Gln1066Lys)
c.3046C>A (p.Gln1016Lys)
c.2530C>A (p.Gln844Lys)
n.3660C>A
c.3469C>A (p.Gln1157Lys)
c.3301C>A (p.Gln1101Lys)
c.3028C>A (p.Gln1010Lys)
c.2878C>A (p.Gln960Lys)
2g.208326298C>GCA350115647PIKFYVEc.3487C>G (p.Gln1163Glu)
c.3319C>G (p.Gln1107Glu)
c.3523C>G (p.Gln1175Glu)
c.3520C>G (p.Gln1174Glu)
c.3505C>G (p.Gln1169Glu)
c.3355C>G (p.Gln1119Glu)
c.3352C>G (p.Gln1118Glu)
c.3337C>G (p.Gln1113Glu)
c.3232C>G (p.Gln1078Glu)
c.3229C>G (p.Gln1077Glu)
c.3196C>G (p.Gln1066Glu)
c.3046C>G (p.Gln1016Glu)
c.2530C>G (p.Gln844Glu)
n.3660C>G
c.3469C>G (p.Gln1157Glu)
c.3301C>G (p.Gln1101Glu)
c.3028C>G (p.Gln1010Glu)
c.2878C>G (p.Gln960Glu)
2g.208326298C>TCA350115648PIKFYVEc.3487C>T (p.Gln1163Ter)
c.3319C>T (p.Gln1107Ter)
c.3523C>T (p.Gln1175Ter)
c.3520C>T (p.Gln1174Ter)
c.3505C>T (p.Gln1169Ter)
c.3355C>T (p.Gln1119Ter)
c.3352C>T (p.Gln1118Ter)
c.3337C>T (p.Gln1113Ter)
c.3232C>T (p.Gln1078Ter)
c.3229C>T (p.Gln1077Ter)
c.3196C>T (p.Gln1066Ter)
c.3046C>T (p.Gln1016Ter)
c.2530C>T (p.Gln844Ter)
n.3660C>T
c.3469C>T (p.Gln1157Ter)
c.3301C>T (p.Gln1101Ter)
c.3028C>T (p.Gln1010Ter)
c.2878C>T (p.Gln960Ter)
 gnomAD v4

Number of alleles fetched