Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.208326311C>ACA350115677PIKFYVEc.3500C>A (p.Ser1167Ter)
c.3332C>A (p.Ser1111Ter)
c.3536C>A (p.Ser1179Ter)
c.3533C>A (p.Ser1178Ter)
c.3518C>A (p.Ser1173Ter)
c.3368C>A (p.Ser1123Ter)
c.3365C>A (p.Ser1122Ter)
c.3350C>A (p.Ser1117Ter)
c.3245C>A (p.Ser1082Ter)
c.3242C>A (p.Ser1081Ter)
c.3209C>A (p.Ser1070Ter)
c.3059C>A (p.Ser1020Ter)
c.2543C>A (p.Ser848Ter)
n.3673C>A
c.3482C>A (p.Ser1161Ter)
c.3314C>A (p.Ser1105Ter)
c.3041C>A (p.Ser1014Ter)
c.2891C>A (p.Ser964Ter)
2g.208326311C=CA1324023453PIKFYVEc.3500C= (p.Ser1167=)
c.3332C= (p.Ser1111=)
c.3536C= (p.Ser1179=)
c.3533C= (p.Ser1178=)
c.3518C= (p.Ser1173=)
c.3368C= (p.Ser1123=)
c.3365C= (p.Ser1122=)
c.3350C= (p.Ser1117=)
c.3245C= (p.Ser1082=)
c.3242C= (p.Ser1081=)
c.3209C= (p.Ser1070=)
c.3059C= (p.Ser1020=)
c.2543C= (p.Ser848=)
n.3673C=
c.3482C= (p.Ser1161=)
c.3314C= (p.Ser1105=)
c.3041C= (p.Ser1014=)
c.2891C= (p.Ser964=)
2g.208326311C>GCA2080046PIKFYVEc.3500C>G (p.Ser1167Ter)
c.3332C>G (p.Ser1111Ter)
c.3536C>G (p.Ser1179Ter)
c.3533C>G (p.Ser1178Ter)
c.3518C>G (p.Ser1173Ter)
c.3368C>G (p.Ser1123Ter)
c.3365C>G (p.Ser1122Ter)
c.3350C>G (p.Ser1117Ter)
c.3245C>G (p.Ser1082Ter)
c.3242C>G (p.Ser1081Ter)
c.3209C>G (p.Ser1070Ter)
c.3059C>G (p.Ser1020Ter)
c.2543C>G (p.Ser848Ter)
n.3673C>G
c.3482C>G (p.Ser1161Ter)
c.3314C>G (p.Ser1105Ter)
c.3041C>G (p.Ser1014Ter)
c.2891C>G (p.Ser964Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.208326311C>TCA350115678PIKFYVEc.3500C>T (p.Ser1167Leu)
c.3332C>T (p.Ser1111Leu)
c.3536C>T (p.Ser1179Leu)
c.3533C>T (p.Ser1178Leu)
c.3518C>T (p.Ser1173Leu)
c.3368C>T (p.Ser1123Leu)
c.3365C>T (p.Ser1122Leu)
c.3350C>T (p.Ser1117Leu)
c.3245C>T (p.Ser1082Leu)
c.3242C>T (p.Ser1081Leu)
c.3209C>T (p.Ser1070Leu)
c.3059C>T (p.Ser1020Leu)
c.2543C>T (p.Ser848Leu)
n.3673C>T
c.3482C>T (p.Ser1161Leu)
c.3314C>T (p.Ser1105Leu)
c.3041C>T (p.Ser1014Leu)
c.2891C>T (p.Ser964Leu)
2g.208326312A>CCA431117065PIKFYVEc.3501A>C (p.Ser1167=)
c.3333A>C (p.Ser1111=)
c.3537A>C (p.Ser1179=)
c.3534A>C (p.Ser1178=)
c.3519A>C (p.Ser1173=)
c.3369A>C (p.Ser1123=)
c.3366A>C (p.Ser1122=)
c.3351A>C (p.Ser1117=)
c.3246A>C (p.Ser1082=)
c.3243A>C (p.Ser1081=)
c.3210A>C (p.Ser1070=)
c.3060A>C (p.Ser1020=)
c.2544A>C (p.Ser848=)
n.3674A>C
c.3483A>C (p.Ser1161=)
c.3315A>C (p.Ser1105=)
c.3042A>C (p.Ser1014=)
c.2892A>C (p.Ser964=)
2g.208326312A>GCA431117067PIKFYVEc.3501A>G (p.Ser1167=)
c.3333A>G (p.Ser1111=)
c.3537A>G (p.Ser1179=)
c.3534A>G (p.Ser1178=)
c.3519A>G (p.Ser1173=)
c.3369A>G (p.Ser1123=)
c.3366A>G (p.Ser1122=)
c.3351A>G (p.Ser1117=)
c.3246A>G (p.Ser1082=)
c.3243A>G (p.Ser1081=)
c.3210A>G (p.Ser1070=)
c.3060A>G (p.Ser1020=)
c.2544A>G (p.Ser848=)
n.3674A>G
c.3483A>G (p.Ser1161=)
c.3315A>G (p.Ser1105=)
c.3042A>G (p.Ser1014=)
c.2892A>G (p.Ser964=)
2g.208326312A>TCA431117069PIKFYVEc.3501A>T (p.Ser1167=)
c.3333A>T (p.Ser1111=)
c.3537A>T (p.Ser1179=)
c.3534A>T (p.Ser1178=)
c.3519A>T (p.Ser1173=)
c.3369A>T (p.Ser1123=)
c.3366A>T (p.Ser1122=)
c.3351A>T (p.Ser1117=)
c.3246A>T (p.Ser1082=)
c.3243A>T (p.Ser1081=)
c.3210A>T (p.Ser1070=)
c.3060A>T (p.Ser1020=)
c.2544A>T (p.Ser848=)
n.3674A>T
c.3483A>T (p.Ser1161=)
c.3315A>T (p.Ser1105=)
c.3042A>T (p.Ser1014=)
c.2892A>T (p.Ser964=)
2g.208326313G>ACA350115679PIKFYVEc.3502G>A (p.Asp1168Asn)
c.3334G>A (p.Asp1112Asn)
c.3538G>A (p.Asp1180Asn)
c.3535G>A (p.Asp1179Asn)
c.3520G>A (p.Asp1174Asn)
c.3370G>A (p.Asp1124Asn)
c.3367G>A (p.Asp1123Asn)
c.3352G>A (p.Asp1118Asn)
c.3247G>A (p.Asp1083Asn)
c.3244G>A (p.Asp1082Asn)
c.3211G>A (p.Asp1071Asn)
c.3061G>A (p.Asp1021Asn)
c.2545G>A (p.Asp849Asn)
n.3675G>A
c.3484G>A (p.Asp1162Asn)
c.3316G>A (p.Asp1106Asn)
c.3043G>A (p.Asp1015Asn)
c.2893G>A (p.Asp965Asn)
2g.208326313G>CCA350115680PIKFYVEc.3502G>C (p.Asp1168His)
c.3334G>C (p.Asp1112His)
c.3538G>C (p.Asp1180His)
c.3535G>C (p.Asp1179His)
c.3520G>C (p.Asp1174His)
c.3370G>C (p.Asp1124His)
c.3367G>C (p.Asp1123His)
c.3352G>C (p.Asp1118His)
c.3247G>C (p.Asp1083His)
c.3244G>C (p.Asp1082His)
c.3211G>C (p.Asp1071His)
c.3061G>C (p.Asp1021His)
c.2545G>C (p.Asp849His)
n.3675G>C
c.3484G>C (p.Asp1162His)
c.3316G>C (p.Asp1106His)
c.3043G>C (p.Asp1015His)
c.2893G>C (p.Asp965His)
2g.208326313G>TCA350115681PIKFYVEc.3502G>T (p.Asp1168Tyr)
c.3334G>T (p.Asp1112Tyr)
c.3538G>T (p.Asp1180Tyr)
c.3535G>T (p.Asp1179Tyr)
c.3520G>T (p.Asp1174Tyr)
c.3370G>T (p.Asp1124Tyr)
c.3367G>T (p.Asp1123Tyr)
c.3352G>T (p.Asp1118Tyr)
c.3247G>T (p.Asp1083Tyr)
c.3244G>T (p.Asp1082Tyr)
c.3211G>T (p.Asp1071Tyr)
c.3061G>T (p.Asp1021Tyr)
c.2545G>T (p.Asp849Tyr)
n.3675G>T
c.3484G>T (p.Asp1162Tyr)
c.3316G>T (p.Asp1106Tyr)
c.3043G>T (p.Asp1015Tyr)
c.2893G>T (p.Asp965Tyr)
2g.208326314A=CA1324023454PIKFYVEc.3503A= (p.Asp1168=)
c.3335A= (p.Asp1112=)
c.3539A= (p.Asp1180=)
c.3536A= (p.Asp1179=)
c.3521A= (p.Asp1174=)
c.3371A= (p.Asp1124=)
c.3368A= (p.Asp1123=)
c.3353A= (p.Asp1118=)
c.3248A= (p.Asp1083=)
c.3245A= (p.Asp1082=)
c.3212A= (p.Asp1071=)
c.3062A= (p.Asp1021=)
c.2546A= (p.Asp849=)
n.3676A=
c.3485A= (p.Asp1162=)
c.3317A= (p.Asp1106=)
c.3044A= (p.Asp1015=)
c.2894A= (p.Asp965=)
2g.208326314A>CCA350115682PIKFYVEc.3503A>C (p.Asp1168Ala)
c.3335A>C (p.Asp1112Ala)
c.3539A>C (p.Asp1180Ala)
c.3536A>C (p.Asp1179Ala)
c.3521A>C (p.Asp1174Ala)
c.3371A>C (p.Asp1124Ala)
c.3368A>C (p.Asp1123Ala)
c.3353A>C (p.Asp1118Ala)
c.3248A>C (p.Asp1083Ala)
c.3245A>C (p.Asp1082Ala)
c.3212A>C (p.Asp1071Ala)
c.3062A>C (p.Asp1021Ala)
c.2546A>C (p.Asp849Ala)
n.3676A>C
c.3485A>C (p.Asp1162Ala)
c.3317A>C (p.Asp1106Ala)
c.3044A>C (p.Asp1015Ala)
c.2894A>C (p.Asp965Ala)
2g.208326314A>GCA350115683PIKFYVEc.3503A>G (p.Asp1168Gly)
c.3335A>G (p.Asp1112Gly)
c.3539A>G (p.Asp1180Gly)
c.3536A>G (p.Asp1179Gly)
c.3521A>G (p.Asp1174Gly)
c.3371A>G (p.Asp1124Gly)
c.3368A>G (p.Asp1123Gly)
c.3353A>G (p.Asp1118Gly)
c.3248A>G (p.Asp1083Gly)
c.3245A>G (p.Asp1082Gly)
c.3212A>G (p.Asp1071Gly)
c.3062A>G (p.Asp1021Gly)
c.2546A>G (p.Asp849Gly)
n.3676A>G
c.3485A>G (p.Asp1162Gly)
c.3317A>G (p.Asp1106Gly)
c.3044A>G (p.Asp1015Gly)
c.2894A>G (p.Asp965Gly)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.208326314A>TCA350115684PIKFYVEc.3503A>T (p.Asp1168Val)
c.3335A>T (p.Asp1112Val)
c.3539A>T (p.Asp1180Val)
c.3536A>T (p.Asp1179Val)
c.3521A>T (p.Asp1174Val)
c.3371A>T (p.Asp1124Val)
c.3368A>T (p.Asp1123Val)
c.3353A>T (p.Asp1118Val)
c.3248A>T (p.Asp1083Val)
c.3245A>T (p.Asp1082Val)
c.3212A>T (p.Asp1071Val)
c.3062A>T (p.Asp1021Val)
c.2546A>T (p.Asp849Val)
n.3676A>T
c.3485A>T (p.Asp1162Val)
c.3317A>T (p.Asp1106Val)
c.3044A>T (p.Asp1015Val)
c.2894A>T (p.Asp965Val)
 gnomAD v4
2g.208326315C>ACA350115685PIKFYVEc.3504C>A (p.Asp1168Glu)
c.3336C>A (p.Asp1112Glu)
c.3540C>A (p.Asp1180Glu)
c.3537C>A (p.Asp1179Glu)
c.3522C>A (p.Asp1174Glu)
c.3372C>A (p.Asp1124Glu)
c.3369C>A (p.Asp1123Glu)
c.3354C>A (p.Asp1118Glu)
c.3249C>A (p.Asp1083Glu)
c.3246C>A (p.Asp1082Glu)
c.3213C>A (p.Asp1071Glu)
c.3063C>A (p.Asp1021Glu)
c.2547C>A (p.Asp849Glu)
n.3677C>A
c.3486C>A (p.Asp1162Glu)
c.3318C>A (p.Asp1106Glu)
c.3045C>A (p.Asp1015Glu)
c.2895C>A (p.Asp965Glu)
 gnomAD v4
2g.208326315C=CA1324023455PIKFYVEc.3504C= (p.Asp1168=)
c.3336C= (p.Asp1112=)
c.3540C= (p.Asp1180=)
c.3537C= (p.Asp1179=)
c.3522C= (p.Asp1174=)
c.3372C= (p.Asp1124=)
c.3369C= (p.Asp1123=)
c.3354C= (p.Asp1118=)
c.3249C= (p.Asp1083=)
c.3246C= (p.Asp1082=)
c.3213C= (p.Asp1071=)
c.3063C= (p.Asp1021=)
c.2547C= (p.Asp849=)
n.3677C=
c.3486C= (p.Asp1162=)
c.3318C= (p.Asp1106=)
c.3045C= (p.Asp1015=)
c.2895C= (p.Asp965=)
2g.208326315C>GCA350115686PIKFYVEc.3504C>G (p.Asp1168Glu)
c.3336C>G (p.Asp1112Glu)
c.3540C>G (p.Asp1180Glu)
c.3537C>G (p.Asp1179Glu)
c.3522C>G (p.Asp1174Glu)
c.3372C>G (p.Asp1124Glu)
c.3369C>G (p.Asp1123Glu)
c.3354C>G (p.Asp1118Glu)
c.3249C>G (p.Asp1083Glu)
c.3246C>G (p.Asp1082Glu)
c.3213C>G (p.Asp1071Glu)
c.3063C>G (p.Asp1021Glu)
c.2547C>G (p.Asp849Glu)
n.3677C>G
c.3486C>G (p.Asp1162Glu)
c.3318C>G (p.Asp1106Glu)
c.3045C>G (p.Asp1015Glu)
c.2895C>G (p.Asp965Glu)
2g.208326315C>TCA2080047PIKFYVEc.3504C>T (p.Asp1168=)
c.3336C>T (p.Asp1112=)
c.3540C>T (p.Asp1180=)
c.3537C>T (p.Asp1179=)
c.3522C>T (p.Asp1174=)
c.3372C>T (p.Asp1124=)
c.3369C>T (p.Asp1123=)
c.3354C>T (p.Asp1118=)
c.3249C>T (p.Asp1083=)
c.3246C>T (p.Asp1082=)
c.3213C>T (p.Asp1071=)
c.3063C>T (p.Asp1021=)
c.2547C>T (p.Asp849=)
n.3677C>T
c.3486C>T (p.Asp1162=)
c.3318C>T (p.Asp1106=)
c.3045C>T (p.Asp1015=)
c.2895C>T (p.Asp965=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.208326316C>ACA350115687PIKFYVEc.3505C>A (p.Pro1169Thr)
c.3337C>A (p.Pro1113Thr)
c.3541C>A (p.Pro1181Thr)
c.3538C>A (p.Pro1180Thr)
c.3523C>A (p.Pro1175Thr)
c.3373C>A (p.Pro1125Thr)
c.3370C>A (p.Pro1124Thr)
c.3355C>A (p.Pro1119Thr)
c.3250C>A (p.Pro1084Thr)
c.3247C>A (p.Pro1083Thr)
c.3214C>A (p.Pro1072Thr)
c.3064C>A (p.Pro1022Thr)
c.2548C>A (p.Pro850Thr)
n.3678C>A
c.3487C>A (p.Pro1163Thr)
c.3319C>A (p.Pro1107Thr)
c.3046C>A (p.Pro1016Thr)
c.2896C>A (p.Pro966Thr)
 gnomAD v4
2g.208326316C=CA1324023456PIKFYVEc.3505C= (p.Pro1169=)
c.3337C= (p.Pro1113=)
c.3541C= (p.Pro1181=)
c.3538C= (p.Pro1180=)
c.3523C= (p.Pro1175=)
c.3373C= (p.Pro1125=)
c.3370C= (p.Pro1124=)
c.3355C= (p.Pro1119=)
c.3250C= (p.Pro1084=)
c.3247C= (p.Pro1083=)
c.3214C= (p.Pro1072=)
c.3064C= (p.Pro1022=)
c.2548C= (p.Pro850=)
n.3678C=
c.3487C= (p.Pro1163=)
c.3319C= (p.Pro1107=)
c.3046C= (p.Pro1016=)
c.2896C= (p.Pro966=)
2g.208326316C>GCA2080048PIKFYVEc.3505C>G (p.Pro1169Ala)
c.3337C>G (p.Pro1113Ala)
c.3541C>G (p.Pro1181Ala)
c.3538C>G (p.Pro1180Ala)
c.3523C>G (p.Pro1175Ala)
c.3373C>G (p.Pro1125Ala)
c.3370C>G (p.Pro1124Ala)
c.3355C>G (p.Pro1119Ala)
c.3250C>G (p.Pro1084Ala)
c.3247C>G (p.Pro1083Ala)
c.3214C>G (p.Pro1072Ala)
c.3064C>G (p.Pro1022Ala)
c.2548C>G (p.Pro850Ala)
n.3678C>G
c.3487C>G (p.Pro1163Ala)
c.3319C>G (p.Pro1107Ala)
c.3046C>G (p.Pro1016Ala)
c.2896C>G (p.Pro966Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.208326316C>TCA350115688PIKFYVEc.3505C>T (p.Pro1169Ser)
c.3337C>T (p.Pro1113Ser)
c.3541C>T (p.Pro1181Ser)
c.3538C>T (p.Pro1180Ser)
c.3523C>T (p.Pro1175Ser)
c.3373C>T (p.Pro1125Ser)
c.3370C>T (p.Pro1124Ser)
c.3355C>T (p.Pro1119Ser)
c.3250C>T (p.Pro1084Ser)
c.3247C>T (p.Pro1083Ser)
c.3214C>T (p.Pro1072Ser)
c.3064C>T (p.Pro1022Ser)
c.2548C>T (p.Pro850Ser)
n.3678C>T
c.3487C>T (p.Pro1163Ser)
c.3319C>T (p.Pro1107Ser)
c.3046C>T (p.Pro1016Ser)
c.2896C>T (p.Pro966Ser)
 dbSNP gnomAD v3 gnomAD v4
2g.208326317C>ACA350115689PIKFYVEc.3506C>A (p.Pro1169His)
c.3338C>A (p.Pro1113His)
c.3542C>A (p.Pro1181His)
c.3539C>A (p.Pro1180His)
c.3524C>A (p.Pro1175His)
c.3374C>A (p.Pro1125His)
c.3371C>A (p.Pro1124His)
c.3356C>A (p.Pro1119His)
c.3251C>A (p.Pro1084His)
c.3248C>A (p.Pro1083His)
c.3215C>A (p.Pro1072His)
c.3065C>A (p.Pro1022His)
c.2549C>A (p.Pro850His)
n.3679C>A
c.3488C>A (p.Pro1163His)
c.3320C>A (p.Pro1107His)
c.3047C>A (p.Pro1016His)
c.2897C>A (p.Pro966His)
2g.208326317C=CA1324023457PIKFYVEc.3506C= (p.Pro1169=)
c.3338C= (p.Pro1113=)
c.3542C= (p.Pro1181=)
c.3539C= (p.Pro1180=)
c.3524C= (p.Pro1175=)
c.3374C= (p.Pro1125=)
c.3371C= (p.Pro1124=)
c.3356C= (p.Pro1119=)
c.3251C= (p.Pro1084=)
c.3248C= (p.Pro1083=)
c.3215C= (p.Pro1072=)
c.3065C= (p.Pro1022=)
c.2549C= (p.Pro850=)
n.3679C=
c.3488C= (p.Pro1163=)
c.3320C= (p.Pro1107=)
c.3047C= (p.Pro1016=)
c.2897C= (p.Pro966=)
2g.208326317C>GCA2080049PIKFYVEc.3506C>G (p.Pro1169Arg)
c.3338C>G (p.Pro1113Arg)
c.3542C>G (p.Pro1181Arg)
c.3539C>G (p.Pro1180Arg)
c.3524C>G (p.Pro1175Arg)
c.3374C>G (p.Pro1125Arg)
c.3371C>G (p.Pro1124Arg)
c.3356C>G (p.Pro1119Arg)
c.3251C>G (p.Pro1084Arg)
c.3248C>G (p.Pro1083Arg)
c.3215C>G (p.Pro1072Arg)
c.3065C>G (p.Pro1022Arg)
c.2549C>G (p.Pro850Arg)
n.3679C>G
c.3488C>G (p.Pro1163Arg)
c.3320C>G (p.Pro1107Arg)
c.3047C>G (p.Pro1016Arg)
c.2897C>G (p.Pro966Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.208326317C>TCA350115690PIKFYVEc.3506C>T (p.Pro1169Leu)
c.3338C>T (p.Pro1113Leu)
c.3542C>T (p.Pro1181Leu)
c.3539C>T (p.Pro1180Leu)
c.3524C>T (p.Pro1175Leu)
c.3374C>T (p.Pro1125Leu)
c.3371C>T (p.Pro1124Leu)
c.3356C>T (p.Pro1119Leu)
c.3251C>T (p.Pro1084Leu)
c.3248C>T (p.Pro1083Leu)
c.3215C>T (p.Pro1072Leu)
c.3065C>T (p.Pro1022Leu)
c.2549C>T (p.Pro850Leu)
n.3679C>T
c.3488C>T (p.Pro1163Leu)
c.3320C>T (p.Pro1107Leu)
c.3047C>T (p.Pro1016Leu)
c.2897C>T (p.Pro966Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.208326318T>ACA431117073PIKFYVEc.3507T>A (p.Pro1169=)
c.3339T>A (p.Pro1113=)
c.3543T>A (p.Pro1181=)
c.3540T>A (p.Pro1180=)
c.3525T>A (p.Pro1175=)
c.3375T>A (p.Pro1125=)
c.3372T>A (p.Pro1124=)
c.3357T>A (p.Pro1119=)
c.3252T>A (p.Pro1084=)
c.3249T>A (p.Pro1083=)
c.3216T>A (p.Pro1072=)
c.3066T>A (p.Pro1022=)
c.2550T>A (p.Pro850=)
n.3680T>A
c.3489T>A (p.Pro1163=)
c.3321T>A (p.Pro1107=)
c.3048T>A (p.Pro1016=)
c.2898T>A (p.Pro966=)
2g.208326318T>CCA431117074PIKFYVEc.3507T>C (p.Pro1169=)
c.3339T>C (p.Pro1113=)
c.3543T>C (p.Pro1181=)
c.3540T>C (p.Pro1180=)
c.3525T>C (p.Pro1175=)
c.3375T>C (p.Pro1125=)
c.3372T>C (p.Pro1124=)
c.3357T>C (p.Pro1119=)
c.3252T>C (p.Pro1084=)
c.3249T>C (p.Pro1083=)
c.3216T>C (p.Pro1072=)
c.3066T>C (p.Pro1022=)
c.2550T>C (p.Pro850=)
n.3680T>C
c.3489T>C (p.Pro1163=)
c.3321T>C (p.Pro1107=)
c.3048T>C (p.Pro1016=)
c.2898T>C (p.Pro966=)
 COSMIC
2g.208326318T>GCA431117075PIKFYVEc.3507T>G (p.Pro1169=)
c.3339T>G (p.Pro1113=)
c.3543T>G (p.Pro1181=)
c.3540T>G (p.Pro1180=)
c.3525T>G (p.Pro1175=)
c.3375T>G (p.Pro1125=)
c.3372T>G (p.Pro1124=)
c.3357T>G (p.Pro1119=)
c.3252T>G (p.Pro1084=)
c.3249T>G (p.Pro1083=)
c.3216T>G (p.Pro1072=)
c.3066T>G (p.Pro1022=)
c.2550T>G (p.Pro850=)
n.3680T>G
c.3489T>G (p.Pro1163=)
c.3321T>G (p.Pro1107=)
c.3048T>G (p.Pro1016=)
c.2898T>G (p.Pro966=)
2g.208326319T>ACA350115691PIKFYVEc.3508T>A (p.Phe1170Ile)
c.3340T>A (p.Phe1114Ile)
c.3544T>A (p.Phe1182Ile)
c.3541T>A (p.Phe1181Ile)
c.3526T>A (p.Phe1176Ile)
c.3376T>A (p.Phe1126Ile)
c.3373T>A (p.Phe1125Ile)
c.3358T>A (p.Phe1120Ile)
c.3253T>A (p.Phe1085Ile)
c.3250T>A (p.Phe1084Ile)
c.3217T>A (p.Phe1073Ile)
c.3067T>A (p.Phe1023Ile)
c.2551T>A (p.Phe851Ile)
n.3681T>A
c.3490T>A (p.Phe1164Ile)
c.3322T>A (p.Phe1108Ile)
c.3049T>A (p.Phe1017Ile)
c.2899T>A (p.Phe967Ile)
2g.208326319T>CCA350115692PIKFYVEc.3508T>C (p.Phe1170Leu)
c.3340T>C (p.Phe1114Leu)
c.3544T>C (p.Phe1182Leu)
c.3541T>C (p.Phe1181Leu)
c.3526T>C (p.Phe1176Leu)
c.3376T>C (p.Phe1126Leu)
c.3373T>C (p.Phe1125Leu)
c.3358T>C (p.Phe1120Leu)
c.3253T>C (p.Phe1085Leu)
c.3250T>C (p.Phe1084Leu)
c.3217T>C (p.Phe1073Leu)
c.3067T>C (p.Phe1023Leu)
c.2551T>C (p.Phe851Leu)
n.3681T>C
c.3490T>C (p.Phe1164Leu)
c.3322T>C (p.Phe1108Leu)
c.3049T>C (p.Phe1017Leu)
c.2899T>C (p.Phe967Leu)
2g.208326319T>GCA350115693PIKFYVEc.3508T>G (p.Phe1170Val)
c.3340T>G (p.Phe1114Val)
c.3544T>G (p.Phe1182Val)
c.3541T>G (p.Phe1181Val)
c.3526T>G (p.Phe1176Val)
c.3376T>G (p.Phe1126Val)
c.3373T>G (p.Phe1125Val)
c.3358T>G (p.Phe1120Val)
c.3253T>G (p.Phe1085Val)
c.3250T>G (p.Phe1084Val)
c.3217T>G (p.Phe1073Val)
c.3067T>G (p.Phe1023Val)
c.2551T>G (p.Phe851Val)
n.3681T>G
c.3490T>G (p.Phe1164Val)
c.3322T>G (p.Phe1108Val)
c.3049T>G (p.Phe1017Val)
c.2899T>G (p.Phe967Val)
 gnomAD v4
2g.208326320T>ACA350115694PIKFYVEc.3509T>A (p.Phe1170Tyr)
c.3341T>A (p.Phe1114Tyr)
c.3545T>A (p.Phe1182Tyr)
c.3542T>A (p.Phe1181Tyr)
c.3527T>A (p.Phe1176Tyr)
c.3377T>A (p.Phe1126Tyr)
c.3374T>A (p.Phe1125Tyr)
c.3359T>A (p.Phe1120Tyr)
c.3254T>A (p.Phe1085Tyr)
c.3251T>A (p.Phe1084Tyr)
c.3218T>A (p.Phe1073Tyr)
c.3068T>A (p.Phe1023Tyr)
c.2552T>A (p.Phe851Tyr)
n.3682T>A
c.3491T>A (p.Phe1164Tyr)
c.3323T>A (p.Phe1108Tyr)
c.3050T>A (p.Phe1017Tyr)
c.2900T>A (p.Phe967Tyr)
2g.208326320T>CCA350115695PIKFYVEc.3509T>C (p.Phe1170Ser)
c.3341T>C (p.Phe1114Ser)
c.3545T>C (p.Phe1182Ser)
c.3542T>C (p.Phe1181Ser)
c.3527T>C (p.Phe1176Ser)
c.3377T>C (p.Phe1126Ser)
c.3374T>C (p.Phe1125Ser)
c.3359T>C (p.Phe1120Ser)
c.3254T>C (p.Phe1085Ser)
c.3251T>C (p.Phe1084Ser)
c.3218T>C (p.Phe1073Ser)
c.3068T>C (p.Phe1023Ser)
c.2552T>C (p.Phe851Ser)
n.3682T>C
c.3491T>C (p.Phe1164Ser)
c.3323T>C (p.Phe1108Ser)
c.3050T>C (p.Phe1017Ser)
c.2900T>C (p.Phe967Ser)
2g.208326320T>GCA350115696PIKFYVEc.3509T>G (p.Phe1170Cys)
c.3341T>G (p.Phe1114Cys)
c.3545T>G (p.Phe1182Cys)
c.3542T>G (p.Phe1181Cys)
c.3527T>G (p.Phe1176Cys)
c.3377T>G (p.Phe1126Cys)
c.3374T>G (p.Phe1125Cys)
c.3359T>G (p.Phe1120Cys)
c.3254T>G (p.Phe1085Cys)
c.3251T>G (p.Phe1084Cys)
c.3218T>G (p.Phe1073Cys)
c.3068T>G (p.Phe1023Cys)
c.2552T>G (p.Phe851Cys)
n.3682T>G
c.3491T>G (p.Phe1164Cys)
c.3323T>G (p.Phe1108Cys)
c.3050T>G (p.Phe1017Cys)
c.2900T>G (p.Phe967Cys)
2g.208326321T>ACA350115698PIKFYVEc.3510T>A (p.Phe1170Leu)
c.3342T>A (p.Phe1114Leu)
c.3546T>A (p.Phe1182Leu)
c.3543T>A (p.Phe1181Leu)
c.3528T>A (p.Phe1176Leu)
c.3378T>A (p.Phe1126Leu)
c.3375T>A (p.Phe1125Leu)
c.3360T>A (p.Phe1120Leu)
c.3255T>A (p.Phe1085Leu)
c.3252T>A (p.Phe1084Leu)
c.3219T>A (p.Phe1073Leu)
c.3069T>A (p.Phe1023Leu)
c.2553T>A (p.Phe851Leu)
n.3683T>A
c.3492T>A (p.Phe1164Leu)
c.3324T>A (p.Phe1108Leu)
c.3051T>A (p.Phe1017Leu)
c.2901T>A (p.Phe967Leu)
2g.208326321T>CCA431117077PIKFYVEc.3510T>C (p.Phe1170=)
c.3342T>C (p.Phe1114=)
c.3546T>C (p.Phe1182=)
c.3543T>C (p.Phe1181=)
c.3528T>C (p.Phe1176=)
c.3378T>C (p.Phe1126=)
c.3375T>C (p.Phe1125=)
c.3360T>C (p.Phe1120=)
c.3255T>C (p.Phe1085=)
c.3252T>C (p.Phe1084=)
c.3219T>C (p.Phe1073=)
c.3069T>C (p.Phe1023=)
c.2553T>C (p.Phe851=)
n.3683T>C
c.3492T>C (p.Phe1164=)
c.3324T>C (p.Phe1108=)
c.3051T>C (p.Phe1017=)
c.2901T>C (p.Phe967=)
 dbSNP gnomAD v4
2g.208326321T>GCA350115697PIKFYVEc.3510T>G (p.Phe1170Leu)
c.3342T>G (p.Phe1114Leu)
c.3546T>G (p.Phe1182Leu)
c.3543T>G (p.Phe1181Leu)
c.3528T>G (p.Phe1176Leu)
c.3378T>G (p.Phe1126Leu)
c.3375T>G (p.Phe1125Leu)
c.3360T>G (p.Phe1120Leu)
c.3255T>G (p.Phe1085Leu)
c.3252T>G (p.Phe1084Leu)
c.3219T>G (p.Phe1073Leu)
c.3069T>G (p.Phe1023Leu)
c.2553T>G (p.Phe851Leu)
n.3683T>G
c.3492T>G (p.Phe1164Leu)
c.3324T>G (p.Phe1108Leu)
c.3051T>G (p.Phe1017Leu)
c.2901T>G (p.Phe967Leu)
2g.208326321T=CA1324023458PIKFYVEc.3510T= (p.Phe1170=)
c.3342T= (p.Phe1114=)
c.3546T= (p.Phe1182=)
c.3543T= (p.Phe1181=)
c.3528T= (p.Phe1176=)
c.3378T= (p.Phe1126=)
c.3375T= (p.Phe1125=)
c.3360T= (p.Phe1120=)
c.3255T= (p.Phe1085=)
c.3252T= (p.Phe1084=)
c.3219T= (p.Phe1073=)
c.3069T= (p.Phe1023=)
c.2553T= (p.Phe851=)
n.3683T=
c.3492T= (p.Phe1164=)
c.3324T= (p.Phe1108=)
c.3051T= (p.Phe1017=)
c.2901T= (p.Phe967=)
2g.208326322G>ACA2080050PIKFYVEc.3511G>A (p.Ala1171Thr)
c.3343G>A (p.Ala1115Thr)
c.3547G>A (p.Ala1183Thr)
c.3544G>A (p.Ala1182Thr)
c.3529G>A (p.Ala1177Thr)
c.3379G>A (p.Ala1127Thr)
c.3376G>A (p.Ala1126Thr)
c.3361G>A (p.Ala1121Thr)
c.3256G>A (p.Ala1086Thr)
c.3253G>A (p.Ala1085Thr)
c.3220G>A (p.Ala1074Thr)
c.3070G>A (p.Ala1024Thr)
c.2554G>A (p.Ala852Thr)
n.3684G>A
c.3493G>A (p.Ala1165Thr)
c.3325G>A (p.Ala1109Thr)
c.3052G>A (p.Ala1018Thr)
c.2902G>A (p.Ala968Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.208326322G>CCA350115699PIKFYVEc.3511G>C (p.Ala1171Pro)
c.3343G>C (p.Ala1115Pro)
c.3547G>C (p.Ala1183Pro)
c.3544G>C (p.Ala1182Pro)
c.3529G>C (p.Ala1177Pro)
c.3379G>C (p.Ala1127Pro)
c.3376G>C (p.Ala1126Pro)
c.3361G>C (p.Ala1121Pro)
c.3256G>C (p.Ala1086Pro)
c.3253G>C (p.Ala1085Pro)
c.3220G>C (p.Ala1074Pro)
c.3070G>C (p.Ala1024Pro)
c.2554G>C (p.Ala852Pro)
n.3684G>C
c.3493G>C (p.Ala1165Pro)
c.3325G>C (p.Ala1109Pro)
c.3052G>C (p.Ala1018Pro)
c.2902G>C (p.Ala968Pro)
2g.208326322G=CA1324023459PIKFYVEc.3511G= (p.Ala1171=)
c.3343G= (p.Ala1115=)
c.3547G= (p.Ala1183=)
c.3544G= (p.Ala1182=)
c.3529G= (p.Ala1177=)
c.3379G= (p.Ala1127=)
c.3376G= (p.Ala1126=)
c.3361G= (p.Ala1121=)
c.3256G= (p.Ala1086=)
c.3253G= (p.Ala1085=)
c.3220G= (p.Ala1074=)
c.3070G= (p.Ala1024=)
c.2554G= (p.Ala852=)
n.3684G=
c.3493G= (p.Ala1165=)
c.3325G= (p.Ala1109=)
c.3052G= (p.Ala1018=)
c.2902G= (p.Ala968=)
2g.208326322G>TCA350115700PIKFYVEc.3511G>T (p.Ala1171Ser)
c.3343G>T (p.Ala1115Ser)
c.3547G>T (p.Ala1183Ser)
c.3544G>T (p.Ala1182Ser)
c.3529G>T (p.Ala1177Ser)
c.3379G>T (p.Ala1127Ser)
c.3376G>T (p.Ala1126Ser)
c.3361G>T (p.Ala1121Ser)
c.3256G>T (p.Ala1086Ser)
c.3253G>T (p.Ala1085Ser)
c.3220G>T (p.Ala1074Ser)
c.3070G>T (p.Ala1024Ser)
c.2554G>T (p.Ala852Ser)
n.3684G>T
c.3493G>T (p.Ala1165Ser)
c.3325G>T (p.Ala1109Ser)
c.3052G>T (p.Ala1018Ser)
c.2902G>T (p.Ala968Ser)
2g.208326323C>ACA350115701PIKFYVEc.3512C>A (p.Ala1171Asp)
c.3344C>A (p.Ala1115Asp)
c.3548C>A (p.Ala1183Asp)
c.3545C>A (p.Ala1182Asp)
c.3530C>A (p.Ala1177Asp)
c.3380C>A (p.Ala1127Asp)
c.3377C>A (p.Ala1126Asp)
c.3362C>A (p.Ala1121Asp)
c.3257C>A (p.Ala1086Asp)
c.3254C>A (p.Ala1085Asp)
c.3221C>A (p.Ala1074Asp)
c.3071C>A (p.Ala1024Asp)
c.2555C>A (p.Ala852Asp)
n.3685C>A
c.3494C>A (p.Ala1165Asp)
c.3326C>A (p.Ala1109Asp)
c.3053C>A (p.Ala1018Asp)
c.2903C>A (p.Ala968Asp)
2g.208326323C>GCA350115702PIKFYVEc.3512C>G (p.Ala1171Gly)
c.3344C>G (p.Ala1115Gly)
c.3548C>G (p.Ala1183Gly)
c.3545C>G (p.Ala1182Gly)
c.3530C>G (p.Ala1177Gly)
c.3380C>G (p.Ala1127Gly)
c.3377C>G (p.Ala1126Gly)
c.3362C>G (p.Ala1121Gly)
c.3257C>G (p.Ala1086Gly)
c.3254C>G (p.Ala1085Gly)
c.3221C>G (p.Ala1074Gly)
c.3071C>G (p.Ala1024Gly)
c.2555C>G (p.Ala852Gly)
n.3685C>G
c.3494C>G (p.Ala1165Gly)
c.3326C>G (p.Ala1109Gly)
c.3053C>G (p.Ala1018Gly)
c.2903C>G (p.Ala968Gly)
2g.208326323C>TCA350115703PIKFYVEc.3512C>T (p.Ala1171Val)
c.3344C>T (p.Ala1115Val)
c.3548C>T (p.Ala1183Val)
c.3545C>T (p.Ala1182Val)
c.3530C>T (p.Ala1177Val)
c.3380C>T (p.Ala1127Val)
c.3377C>T (p.Ala1126Val)
c.3362C>T (p.Ala1121Val)
c.3257C>T (p.Ala1086Val)
c.3254C>T (p.Ala1085Val)
c.3221C>T (p.Ala1074Val)
c.3071C>T (p.Ala1024Val)
c.2555C>T (p.Ala852Val)
n.3685C>T
c.3494C>T (p.Ala1165Val)
c.3326C>T (p.Ala1109Val)
c.3053C>T (p.Ala1018Val)
c.2903C>T (p.Ala968Val)
 gnomAD v4
2g.208326324T>ACA431117078PIKFYVEc.3513T>A (p.Ala1171=)
c.3345T>A (p.Ala1115=)
c.3549T>A (p.Ala1183=)
c.3546T>A (p.Ala1182=)
c.3531T>A (p.Ala1177=)
c.3381T>A (p.Ala1127=)
c.3378T>A (p.Ala1126=)
c.3363T>A (p.Ala1121=)
c.3258T>A (p.Ala1086=)
c.3255T>A (p.Ala1085=)
c.3222T>A (p.Ala1074=)
c.3072T>A (p.Ala1024=)
c.2556T>A (p.Ala852=)
n.3686T>A
c.3495T>A (p.Ala1165=)
c.3327T>A (p.Ala1109=)
c.3054T>A (p.Ala1018=)
c.2904T>A (p.Ala968=)
2g.208326324T>CCA431117079PIKFYVEc.3513T>C (p.Ala1171=)
c.3345T>C (p.Ala1115=)
c.3549T>C (p.Ala1183=)
c.3546T>C (p.Ala1182=)
c.3531T>C (p.Ala1177=)
c.3381T>C (p.Ala1127=)
c.3378T>C (p.Ala1126=)
c.3363T>C (p.Ala1121=)
c.3258T>C (p.Ala1086=)
c.3255T>C (p.Ala1085=)
c.3222T>C (p.Ala1074=)
c.3072T>C (p.Ala1024=)
c.2556T>C (p.Ala852=)
n.3686T>C
c.3495T>C (p.Ala1165=)
c.3327T>C (p.Ala1109=)
c.3054T>C (p.Ala1018=)
c.2904T>C (p.Ala968=)
 gnomAD v4
2g.208326324T>GCA431117080PIKFYVEc.3513T>G (p.Ala1171=)
c.3345T>G (p.Ala1115=)
c.3549T>G (p.Ala1183=)
c.3546T>G (p.Ala1182=)
c.3531T>G (p.Ala1177=)
c.3381T>G (p.Ala1127=)
c.3378T>G (p.Ala1126=)
c.3363T>G (p.Ala1121=)
c.3258T>G (p.Ala1086=)
c.3255T>G (p.Ala1085=)
c.3222T>G (p.Ala1074=)
c.3072T>G (p.Ala1024=)
c.2556T>G (p.Ala852=)
n.3686T>G
c.3495T>G (p.Ala1165=)
c.3327T>G (p.Ala1109=)
c.3054T>G (p.Ala1018=)
c.2904T>G (p.Ala968=)
2g.208326325C>ACA350115706PIKFYVEc.3514C>A (p.His1172Asn)
c.3346C>A (p.His1116Asn)
c.3550C>A (p.His1184Asn)
c.3547C>A (p.His1183Asn)
c.3532C>A (p.His1178Asn)
c.3382C>A (p.His1128Asn)
c.3379C>A (p.His1127Asn)
c.3364C>A (p.His1122Asn)
c.3259C>A (p.His1087Asn)
c.3256C>A (p.His1086Asn)
c.3223C>A (p.His1075Asn)
c.3073C>A (p.His1025Asn)
c.2557C>A (p.His853Asn)
n.3687C>A
c.3496C>A (p.His1166Asn)
c.3328C>A (p.His1110Asn)
c.3055C>A (p.His1019Asn)
c.2905C>A (p.His969Asn)
2g.208326325C=CA1324023460PIKFYVEc.3514C= (p.His1172=)
c.3346C= (p.His1116=)
c.3550C= (p.His1184=)
c.3547C= (p.His1183=)
c.3532C= (p.His1178=)
c.3382C= (p.His1128=)
c.3379C= (p.His1127=)
c.3364C= (p.His1122=)
c.3259C= (p.His1087=)
c.3256C= (p.His1086=)
c.3223C= (p.His1075=)
c.3073C= (p.His1025=)
c.2557C= (p.His853=)
n.3687C=
c.3496C= (p.His1166=)
c.3328C= (p.His1110=)
c.3055C= (p.His1019=)
c.2905C= (p.His969=)
2g.208326325C>GCA350115704PIKFYVEc.3514C>G (p.His1172Asp)
c.3346C>G (p.His1116Asp)
c.3550C>G (p.His1184Asp)
c.3547C>G (p.His1183Asp)
c.3532C>G (p.His1178Asp)
c.3382C>G (p.His1128Asp)
c.3379C>G (p.His1127Asp)
c.3364C>G (p.His1122Asp)
c.3259C>G (p.His1087Asp)
c.3256C>G (p.His1086Asp)
c.3223C>G (p.His1075Asp)
c.3073C>G (p.His1025Asp)
c.2557C>G (p.His853Asp)
n.3687C>G
c.3496C>G (p.His1166Asp)
c.3328C>G (p.His1110Asp)
c.3055C>G (p.His1019Asp)
c.2905C>G (p.His969Asp)
2g.208326325C>TCA350115705PIKFYVEc.3514C>T (p.His1172Tyr)
c.3346C>T (p.His1116Tyr)
c.3550C>T (p.His1184Tyr)
c.3547C>T (p.His1183Tyr)
c.3532C>T (p.His1178Tyr)
c.3382C>T (p.His1128Tyr)
c.3379C>T (p.His1127Tyr)
c.3364C>T (p.His1122Tyr)
c.3259C>T (p.His1087Tyr)
c.3256C>T (p.His1086Tyr)
c.3223C>T (p.His1075Tyr)
c.3073C>T (p.His1025Tyr)
c.2557C>T (p.His853Tyr)
n.3687C>T
c.3496C>T (p.His1166Tyr)
c.3328C>T (p.His1110Tyr)
c.3055C>T (p.His1019Tyr)
c.2905C>T (p.His969Tyr)
 dbSNP gnomAD v2 gnomAD v4
2g.208326326A=CA1324023461PIKFYVEc.3515A= (p.His1172=)
c.3347A= (p.His1116=)
c.3551A= (p.His1184=)
c.3548A= (p.His1183=)
c.3533A= (p.His1178=)
c.3383A= (p.His1128=)
c.3380A= (p.His1127=)
c.3365A= (p.His1122=)
c.3260A= (p.His1087=)
c.3257A= (p.His1086=)
c.3224A= (p.His1075=)
c.3074A= (p.His1025=)
c.2558A= (p.His853=)
n.3688A=
c.3497A= (p.His1166=)
c.3329A= (p.His1110=)
c.3056A= (p.His1019=)
c.2906A= (p.His969=)
2g.208326326A>CCA350115707PIKFYVEc.3515A>C (p.His1172Pro)
c.3347A>C (p.His1116Pro)
c.3551A>C (p.His1184Pro)
c.3548A>C (p.His1183Pro)
c.3533A>C (p.His1178Pro)
c.3383A>C (p.His1128Pro)
c.3380A>C (p.His1127Pro)
c.3365A>C (p.His1122Pro)
c.3260A>C (p.His1087Pro)
c.3257A>C (p.His1086Pro)
c.3224A>C (p.His1075Pro)
c.3074A>C (p.His1025Pro)
c.2558A>C (p.His853Pro)
n.3688A>C
c.3497A>C (p.His1166Pro)
c.3329A>C (p.His1110Pro)
c.3056A>C (p.His1019Pro)
c.2906A>C (p.His969Pro)
2g.208326326A>GCA350115708PIKFYVEc.3515A>G (p.His1172Arg)
c.3347A>G (p.His1116Arg)
c.3551A>G (p.His1184Arg)
c.3548A>G (p.His1183Arg)
c.3533A>G (p.His1178Arg)
c.3383A>G (p.His1128Arg)
c.3380A>G (p.His1127Arg)
c.3365A>G (p.His1122Arg)
c.3260A>G (p.His1087Arg)
c.3257A>G (p.His1086Arg)
c.3224A>G (p.His1075Arg)
c.3074A>G (p.His1025Arg)
c.2558A>G (p.His853Arg)
n.3688A>G
c.3497A>G (p.His1166Arg)
c.3329A>G (p.His1110Arg)
c.3056A>G (p.His1019Arg)
c.2906A>G (p.His969Arg)
2g.208326326A>TCA350115709PIKFYVEc.3515A>T (p.His1172Leu)
c.3347A>T (p.His1116Leu)
c.3551A>T (p.His1184Leu)
c.3548A>T (p.His1183Leu)
c.3533A>T (p.His1178Leu)
c.3383A>T (p.His1128Leu)
c.3380A>T (p.His1127Leu)
c.3365A>T (p.His1122Leu)
c.3260A>T (p.His1087Leu)
c.3257A>T (p.His1086Leu)
c.3224A>T (p.His1075Leu)
c.3074A>T (p.His1025Leu)
c.2558A>T (p.His853Leu)
n.3688A>T
c.3497A>T (p.His1166Leu)
c.3329A>T (p.His1110Leu)
c.3056A>T (p.His1019Leu)
c.2906A>T (p.His969Leu)
 dbSNP gnomAD v2 gnomAD v4
2g.208326327T>ACA350115710PIKFYVEc.3516T>A (p.His1172Gln)
c.3348T>A (p.His1116Gln)
c.3552T>A (p.His1184Gln)
c.3549T>A (p.His1183Gln)
c.3534T>A (p.His1178Gln)
c.3384T>A (p.His1128Gln)
c.3381T>A (p.His1127Gln)
c.3366T>A (p.His1122Gln)
c.3261T>A (p.His1087Gln)
c.3258T>A (p.His1086Gln)
c.3225T>A (p.His1075Gln)
c.3075T>A (p.His1025Gln)
c.2559T>A (p.His853Gln)
n.3689T>A
c.3498T>A (p.His1166Gln)
c.3330T>A (p.His1110Gln)
c.3057T>A (p.His1019Gln)
c.2907T>A (p.His969Gln)
2g.208326327T>CCA431117081PIKFYVEc.3516T>C (p.His1172=)
c.3348T>C (p.His1116=)
c.3552T>C (p.His1184=)
c.3549T>C (p.His1183=)
c.3534T>C (p.His1178=)
c.3384T>C (p.His1128=)
c.3381T>C (p.His1127=)
c.3366T>C (p.His1122=)
c.3261T>C (p.His1087=)
c.3258T>C (p.His1086=)
c.3225T>C (p.His1075=)
c.3075T>C (p.His1025=)
c.2559T>C (p.His853=)
n.3689T>C
c.3498T>C (p.His1166=)
c.3330T>C (p.His1110=)
c.3057T>C (p.His1019=)
c.2907T>C (p.His969=)
2g.208326327T>GCA350115711PIKFYVEc.3516T>G (p.His1172Gln)
c.3348T>G (p.His1116Gln)
c.3552T>G (p.His1184Gln)
c.3549T>G (p.His1183Gln)
c.3534T>G (p.His1178Gln)
c.3384T>G (p.His1128Gln)
c.3381T>G (p.His1127Gln)
c.3366T>G (p.His1122Gln)
c.3261T>G (p.His1087Gln)
c.3258T>G (p.His1086Gln)
c.3225T>G (p.His1075Gln)
c.3075T>G (p.His1025Gln)
c.2559T>G (p.His853Gln)
n.3689T>G
c.3498T>G (p.His1166Gln)
c.3330T>G (p.His1110Gln)
c.3057T>G (p.His1019Gln)
c.2907T>G (p.His969Gln)
2g.208326328T>ACA350115712PIKFYVEc.3517T>A (p.Ser1173Thr)
c.3349T>A (p.Ser1117Thr)
c.3553T>A (p.Ser1185Thr)
c.3550T>A (p.Ser1184Thr)
c.3535T>A (p.Ser1179Thr)
c.3385T>A (p.Ser1129Thr)
c.3382T>A (p.Ser1128Thr)
c.3367T>A (p.Ser1123Thr)
c.3262T>A (p.Ser1088Thr)
c.3259T>A (p.Ser1087Thr)
c.3226T>A (p.Ser1076Thr)
c.3076T>A (p.Ser1026Thr)
c.2560T>A (p.Ser854Thr)
n.3690T>A
c.3499T>A (p.Ser1167Thr)
c.3331T>A (p.Ser1111Thr)
c.3058T>A (p.Ser1020Thr)
c.2908T>A (p.Ser970Thr)
2g.208326328T>CCA350115714PIKFYVEc.3517T>C (p.Ser1173Pro)
c.3349T>C (p.Ser1117Pro)
c.3553T>C (p.Ser1185Pro)
c.3550T>C (p.Ser1184Pro)
c.3535T>C (p.Ser1179Pro)
c.3385T>C (p.Ser1129Pro)
c.3382T>C (p.Ser1128Pro)
c.3367T>C (p.Ser1123Pro)
c.3262T>C (p.Ser1088Pro)
c.3259T>C (p.Ser1087Pro)
c.3226T>C (p.Ser1076Pro)
c.3076T>C (p.Ser1026Pro)
c.2560T>C (p.Ser854Pro)
n.3690T>C
c.3499T>C (p.Ser1167Pro)
c.3331T>C (p.Ser1111Pro)
c.3058T>C (p.Ser1020Pro)
c.2908T>C (p.Ser970Pro)
2g.208326328T>GCA350115713PIKFYVEc.3517T>G (p.Ser1173Ala)
c.3349T>G (p.Ser1117Ala)
c.3553T>G (p.Ser1185Ala)
c.3550T>G (p.Ser1184Ala)
c.3535T>G (p.Ser1179Ala)
c.3385T>G (p.Ser1129Ala)
c.3382T>G (p.Ser1128Ala)
c.3367T>G (p.Ser1123Ala)
c.3262T>G (p.Ser1088Ala)
c.3259T>G (p.Ser1087Ala)
c.3226T>G (p.Ser1076Ala)
c.3076T>G (p.Ser1026Ala)
c.2560T>G (p.Ser854Ala)
n.3690T>G
c.3499T>G (p.Ser1167Ala)
c.3331T>G (p.Ser1111Ala)
c.3058T>G (p.Ser1020Ala)
c.2908T>G (p.Ser970Ala)
 gnomAD v4
2g.208326329C>ACA350115716PIKFYVEc.3518C>A (p.Ser1173Ter)
c.3350C>A (p.Ser1117Ter)
c.3554C>A (p.Ser1185Ter)
c.3551C>A (p.Ser1184Ter)
c.3536C>A (p.Ser1179Ter)
c.3386C>A (p.Ser1129Ter)
c.3383C>A (p.Ser1128Ter)
c.3368C>A (p.Ser1123Ter)
c.3263C>A (p.Ser1088Ter)
c.3260C>A (p.Ser1087Ter)
c.3227C>A (p.Ser1076Ter)
c.3077C>A (p.Ser1026Ter)
c.2561C>A (p.Ser854Ter)
n.3691C>A
c.3500C>A (p.Ser1167Ter)
c.3332C>A (p.Ser1111Ter)
c.3059C>A (p.Ser1020Ter)
c.2909C>A (p.Ser970Ter)
2g.208326329C>GCA350115717PIKFYVEc.3518C>G (p.Ser1173Ter)
c.3350C>G (p.Ser1117Ter)
c.3554C>G (p.Ser1185Ter)
c.3551C>G (p.Ser1184Ter)
c.3536C>G (p.Ser1179Ter)
c.3386C>G (p.Ser1129Ter)
c.3383C>G (p.Ser1128Ter)
c.3368C>G (p.Ser1123Ter)
c.3263C>G (p.Ser1088Ter)
c.3260C>G (p.Ser1087Ter)
c.3227C>G (p.Ser1076Ter)
c.3077C>G (p.Ser1026Ter)
c.2561C>G (p.Ser854Ter)
n.3691C>G
c.3500C>G (p.Ser1167Ter)
c.3332C>G (p.Ser1111Ter)
c.3059C>G (p.Ser1020Ter)
c.2909C>G (p.Ser970Ter)
2g.208326329C>TCA350115719PIKFYVEc.3518C>T (p.Ser1173Leu)
c.3350C>T (p.Ser1117Leu)
c.3554C>T (p.Ser1185Leu)
c.3551C>T (p.Ser1184Leu)
c.3536C>T (p.Ser1179Leu)
c.3386C>T (p.Ser1129Leu)
c.3383C>T (p.Ser1128Leu)
c.3368C>T (p.Ser1123Leu)
c.3263C>T (p.Ser1088Leu)
c.3260C>T (p.Ser1087Leu)
c.3227C>T (p.Ser1076Leu)
c.3077C>T (p.Ser1026Leu)
c.2561C>T (p.Ser854Leu)
n.3691C>T
c.3500C>T (p.Ser1167Leu)
c.3332C>T (p.Ser1111Leu)
c.3059C>T (p.Ser1020Leu)
c.2909C>T (p.Ser970Leu)
2g.208326330A>CCA431117082PIKFYVEc.3519A>C (p.Ser1173=)
c.3351A>C (p.Ser1117=)
c.3555A>C (p.Ser1185=)
c.3552A>C (p.Ser1184=)
c.3537A>C (p.Ser1179=)
c.3387A>C (p.Ser1129=)
c.3384A>C (p.Ser1128=)
c.3369A>C (p.Ser1123=)
c.3264A>C (p.Ser1088=)
c.3261A>C (p.Ser1087=)
c.3228A>C (p.Ser1076=)
c.3078A>C (p.Ser1026=)
c.2562A>C (p.Ser854=)
n.3692A>C
c.3501A>C (p.Ser1167=)
c.3333A>C (p.Ser1111=)
c.3060A>C (p.Ser1020=)
c.2910A>C (p.Ser970=)
2g.208326330A>GCA431117083PIKFYVEc.3519A>G (p.Ser1173=)
c.3351A>G (p.Ser1117=)
c.3555A>G (p.Ser1185=)
c.3552A>G (p.Ser1184=)
c.3537A>G (p.Ser1179=)
c.3387A>G (p.Ser1129=)
c.3384A>G (p.Ser1128=)
c.3369A>G (p.Ser1123=)
c.3264A>G (p.Ser1088=)
c.3261A>G (p.Ser1087=)
c.3228A>G (p.Ser1076=)
c.3078A>G (p.Ser1026=)
c.2562A>G (p.Ser854=)
n.3692A>G
c.3501A>G (p.Ser1167=)
c.3333A>G (p.Ser1111=)
c.3060A>G (p.Ser1020=)
c.2910A>G (p.Ser970=)
 gnomAD v4
2g.208326330A>TCA431117084PIKFYVEc.3519A>T (p.Ser1173=)
c.3351A>T (p.Ser1117=)
c.3555A>T (p.Ser1185=)
c.3552A>T (p.Ser1184=)
c.3537A>T (p.Ser1179=)
c.3387A>T (p.Ser1129=)
c.3384A>T (p.Ser1128=)
c.3369A>T (p.Ser1123=)
c.3264A>T (p.Ser1088=)
c.3261A>T (p.Ser1087=)
c.3228A>T (p.Ser1076=)
c.3078A>T (p.Ser1026=)
c.2562A>T (p.Ser854=)
n.3692A>T
c.3501A>T (p.Ser1167=)
c.3333A>T (p.Ser1111=)
c.3060A>T (p.Ser1020=)
c.2910A>T (p.Ser970=)
2g.208326331A=CA1324023462PIKFYVEc.3520A= (p.Lys1174=)
c.3352A= (p.Lys1118=)
c.3556A= (p.Lys1186=)
c.3553A= (p.Lys1185=)
c.3538A= (p.Lys1180=)
c.3388A= (p.Lys1130=)
c.3385A= (p.Lys1129=)
c.3370A= (p.Lys1124=)
c.3265A= (p.Lys1089=)
c.3262A= (p.Lys1088=)
c.3229A= (p.Lys1077=)
c.3079A= (p.Lys1027=)
c.2563A= (p.Lys855=)
n.3693A=
c.3502A= (p.Lys1168=)
c.3334A= (p.Lys1112=)
c.3061A= (p.Lys1021=)
c.2911A= (p.Lys971=)
2g.208326331A>CCA350115720PIKFYVEc.3520A>C (p.Lys1174Gln)
c.3352A>C (p.Lys1118Gln)
c.3556A>C (p.Lys1186Gln)
c.3553A>C (p.Lys1185Gln)
c.3538A>C (p.Lys1180Gln)
c.3388A>C (p.Lys1130Gln)
c.3385A>C (p.Lys1129Gln)
c.3370A>C (p.Lys1124Gln)
c.3265A>C (p.Lys1089Gln)
c.3262A>C (p.Lys1088Gln)
c.3229A>C (p.Lys1077Gln)
c.3079A>C (p.Lys1027Gln)
c.2563A>C (p.Lys855Gln)
n.3693A>C
c.3502A>C (p.Lys1168Gln)
c.3334A>C (p.Lys1112Gln)
c.3061A>C (p.Lys1021Gln)
c.2911A>C (p.Lys971Gln)
2g.208326331A>GCA350115721PIKFYVEc.3520A>G (p.Lys1174Glu)
c.3352A>G (p.Lys1118Glu)
c.3556A>G (p.Lys1186Glu)
c.3553A>G (p.Lys1185Glu)
c.3538A>G (p.Lys1180Glu)
c.3388A>G (p.Lys1130Glu)
c.3385A>G (p.Lys1129Glu)
c.3370A>G (p.Lys1124Glu)
c.3265A>G (p.Lys1089Glu)
c.3262A>G (p.Lys1088Glu)
c.3229A>G (p.Lys1077Glu)
c.3079A>G (p.Lys1027Glu)
c.2563A>G (p.Lys855Glu)
n.3693A>G
c.3502A>G (p.Lys1168Glu)
c.3334A>G (p.Lys1112Glu)
c.3061A>G (p.Lys1021Glu)
c.2911A>G (p.Lys971Glu)
 dbSNP gnomAD v2 gnomAD v4
2g.208326331A>TCA350115722PIKFYVEc.3520A>T (p.Lys1174Ter)
c.3352A>T (p.Lys1118Ter)
c.3556A>T (p.Lys1186Ter)
c.3553A>T (p.Lys1185Ter)
c.3538A>T (p.Lys1180Ter)
c.3388A>T (p.Lys1130Ter)
c.3385A>T (p.Lys1129Ter)
c.3370A>T (p.Lys1124Ter)
c.3265A>T (p.Lys1089Ter)
c.3262A>T (p.Lys1088Ter)
c.3229A>T (p.Lys1077Ter)
c.3079A>T (p.Lys1027Ter)
c.2563A>T (p.Lys855Ter)
n.3693A>T
c.3502A>T (p.Lys1168Ter)
c.3334A>T (p.Lys1112Ter)
c.3061A>T (p.Lys1021Ter)
c.2911A>T (p.Lys971Ter)
2g.208326332A>CCA350115723PIKFYVEc.3521A>C (p.Lys1174Thr)
c.3353A>C (p.Lys1118Thr)
c.3557A>C (p.Lys1186Thr)
c.3554A>C (p.Lys1185Thr)
c.3539A>C (p.Lys1180Thr)
c.3389A>C (p.Lys1130Thr)
c.3386A>C (p.Lys1129Thr)
c.3371A>C (p.Lys1124Thr)
c.3266A>C (p.Lys1089Thr)
c.3263A>C (p.Lys1088Thr)
c.3230A>C (p.Lys1077Thr)
c.3080A>C (p.Lys1027Thr)
c.2564A>C (p.Lys855Thr)
n.3694A>C
c.3503A>C (p.Lys1168Thr)
c.3335A>C (p.Lys1112Thr)
c.3062A>C (p.Lys1021Thr)
c.2912A>C (p.Lys971Thr)
2g.208326332A>GCA350115724PIKFYVEc.3521A>G (p.Lys1174Arg)
c.3353A>G (p.Lys1118Arg)
c.3557A>G (p.Lys1186Arg)
c.3554A>G (p.Lys1185Arg)
c.3539A>G (p.Lys1180Arg)
c.3389A>G (p.Lys1130Arg)
c.3386A>G (p.Lys1129Arg)
c.3371A>G (p.Lys1124Arg)
c.3266A>G (p.Lys1089Arg)
c.3263A>G (p.Lys1088Arg)
c.3230A>G (p.Lys1077Arg)
c.3080A>G (p.Lys1027Arg)
c.2564A>G (p.Lys855Arg)
n.3694A>G
c.3503A>G (p.Lys1168Arg)
c.3335A>G (p.Lys1112Arg)
c.3062A>G (p.Lys1021Arg)
c.2912A>G (p.Lys971Arg)
 COSMIC
2g.208326332A>TCA350115725PIKFYVEc.3521A>T (p.Lys1174Met)
c.3353A>T (p.Lys1118Met)
c.3557A>T (p.Lys1186Met)
c.3554A>T (p.Lys1185Met)
c.3539A>T (p.Lys1180Met)
c.3389A>T (p.Lys1130Met)
c.3386A>T (p.Lys1129Met)
c.3371A>T (p.Lys1124Met)
c.3266A>T (p.Lys1089Met)
c.3263A>T (p.Lys1088Met)
c.3230A>T (p.Lys1077Met)
c.3080A>T (p.Lys1027Met)
c.2564A>T (p.Lys855Met)
n.3694A>T
c.3503A>T (p.Lys1168Met)
c.3335A>T (p.Lys1112Met)
c.3062A>T (p.Lys1021Met)
c.2912A>T (p.Lys971Met)
 COSMIC
2g.208326333G>ACA431117085PIKFYVEc.3522G>A (p.Lys1174=)
c.3354G>A (p.Lys1118=)
c.3558G>A (p.Lys1186=)
c.3555G>A (p.Lys1185=)
c.3540G>A (p.Lys1180=)
c.3390G>A (p.Lys1130=)
c.3387G>A (p.Lys1129=)
c.3372G>A (p.Lys1124=)
c.3267G>A (p.Lys1089=)
c.3264G>A (p.Lys1088=)
c.3231G>A (p.Lys1077=)
c.3081G>A (p.Lys1027=)
c.2565G>A (p.Lys855=)
n.3695G>A
c.3504G>A (p.Lys1168=)
c.3336G>A (p.Lys1112=)
c.3063G>A (p.Lys1021=)
c.2913G>A (p.Lys971=)
2g.208326333G>CCA350115726PIKFYVEc.3522G>C (p.Lys1174Asn)
c.3354G>C (p.Lys1118Asn)
c.3558G>C (p.Lys1186Asn)
c.3555G>C (p.Lys1185Asn)
c.3540G>C (p.Lys1180Asn)
c.3390G>C (p.Lys1130Asn)
c.3387G>C (p.Lys1129Asn)
c.3372G>C (p.Lys1124Asn)
c.3267G>C (p.Lys1089Asn)
c.3264G>C (p.Lys1088Asn)
c.3231G>C (p.Lys1077Asn)
c.3081G>C (p.Lys1027Asn)
c.2565G>C (p.Lys855Asn)
n.3695G>C
c.3504G>C (p.Lys1168Asn)
c.3336G>C (p.Lys1112Asn)
c.3063G>C (p.Lys1021Asn)
c.2913G>C (p.Lys971Asn)
2g.208326333G>TCA350115727PIKFYVEc.3522G>T (p.Lys1174Asn)
c.3354G>T (p.Lys1118Asn)
c.3558G>T (p.Lys1186Asn)
c.3555G>T (p.Lys1185Asn)
c.3540G>T (p.Lys1180Asn)
c.3390G>T (p.Lys1130Asn)
c.3387G>T (p.Lys1129Asn)
c.3372G>T (p.Lys1124Asn)
c.3267G>T (p.Lys1089Asn)
c.3264G>T (p.Lys1088Asn)
c.3231G>T (p.Lys1077Asn)
c.3081G>T (p.Lys1027Asn)
c.2565G>T (p.Lys855Asn)
n.3695G>T
c.3504G>T (p.Lys1168Asn)
c.3336G>T (p.Lys1112Asn)
c.3063G>T (p.Lys1021Asn)
c.2913G>T (p.Lys971Asn)
2g.208326334G>ACA2080051PIKFYVEc.3523G>A (p.Asp1175Asn)
c.3355G>A (p.Asp1119Asn)
c.3559G>A (p.Asp1187Asn)
c.3556G>A (p.Asp1186Asn)
c.3541G>A (p.Asp1181Asn)
c.3391G>A (p.Asp1131Asn)
c.3388G>A (p.Asp1130Asn)
c.3373G>A (p.Asp1125Asn)
c.3268G>A (p.Asp1090Asn)
c.3265G>A (p.Asp1089Asn)
c.3232G>A (p.Asp1078Asn)
c.3082G>A (p.Asp1028Asn)
c.2566G>A (p.Asp856Asn)
n.3696G>A
c.3505G>A (p.Asp1169Asn)
c.3337G>A (p.Asp1113Asn)
c.3064G>A (p.Asp1022Asn)
c.2914G>A (p.Asp972Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.208326334G>CCA350115729PIKFYVEc.3523G>C (p.Asp1175His)
c.3355G>C (p.Asp1119His)
c.3559G>C (p.Asp1187His)
c.3556G>C (p.Asp1186His)
c.3541G>C (p.Asp1181His)
c.3391G>C (p.Asp1131His)
c.3388G>C (p.Asp1130His)
c.3373G>C (p.Asp1125His)
c.3268G>C (p.Asp1090His)
c.3265G>C (p.Asp1089His)
c.3232G>C (p.Asp1078His)
c.3082G>C (p.Asp1028His)
c.2566G>C (p.Asp856His)
n.3696G>C
c.3505G>C (p.Asp1169His)
c.3337G>C (p.Asp1113His)
c.3064G>C (p.Asp1022His)
c.2914G>C (p.Asp972His)
2g.208326334G=CA1324023463PIKFYVEc.3523G= (p.Asp1175=)
c.3355G= (p.Asp1119=)
c.3559G= (p.Asp1187=)
c.3556G= (p.Asp1186=)
c.3541G= (p.Asp1181=)
c.3391G= (p.Asp1131=)
c.3388G= (p.Asp1130=)
c.3373G= (p.Asp1125=)
c.3268G= (p.Asp1090=)
c.3265G= (p.Asp1089=)
c.3232G= (p.Asp1078=)
c.3082G= (p.Asp1028=)
c.2566G= (p.Asp856=)
n.3696G=
c.3505G= (p.Asp1169=)
c.3337G= (p.Asp1113=)
c.3064G= (p.Asp1022=)
c.2914G= (p.Asp972=)
2g.208326334G>TCA350115728PIKFYVEc.3523G>T (p.Asp1175Tyr)
c.3355G>T (p.Asp1119Tyr)
c.3559G>T (p.Asp1187Tyr)
c.3556G>T (p.Asp1186Tyr)
c.3541G>T (p.Asp1181Tyr)
c.3391G>T (p.Asp1131Tyr)
c.3388G>T (p.Asp1130Tyr)
c.3373G>T (p.Asp1125Tyr)
c.3268G>T (p.Asp1090Tyr)
c.3265G>T (p.Asp1089Tyr)
c.3232G>T (p.Asp1078Tyr)
c.3082G>T (p.Asp1028Tyr)
c.2566G>T (p.Asp856Tyr)
n.3696G>T
c.3505G>T (p.Asp1169Tyr)
c.3337G>T (p.Asp1113Tyr)
c.3064G>T (p.Asp1022Tyr)
c.2914G>T (p.Asp972Tyr)
2g.208326335A>CCA350115730PIKFYVEc.3524A>C (p.Asp1175Ala)
c.3356A>C (p.Asp1119Ala)
c.3560A>C (p.Asp1187Ala)
c.3557A>C (p.Asp1186Ala)
c.3542A>C (p.Asp1181Ala)
c.3392A>C (p.Asp1131Ala)
c.3389A>C (p.Asp1130Ala)
c.3374A>C (p.Asp1125Ala)
c.3269A>C (p.Asp1090Ala)
c.3266A>C (p.Asp1089Ala)
c.3233A>C (p.Asp1078Ala)
c.3083A>C (p.Asp1028Ala)
c.2567A>C (p.Asp856Ala)
n.3697A>C
c.3506A>C (p.Asp1169Ala)
c.3338A>C (p.Asp1113Ala)
c.3065A>C (p.Asp1022Ala)
c.2915A>C (p.Asp972Ala)
2g.208326335A>GCA350115731PIKFYVEc.3524A>G (p.Asp1175Gly)
c.3356A>G (p.Asp1119Gly)
c.3560A>G (p.Asp1187Gly)
c.3557A>G (p.Asp1186Gly)
c.3542A>G (p.Asp1181Gly)
c.3392A>G (p.Asp1131Gly)
c.3389A>G (p.Asp1130Gly)
c.3374A>G (p.Asp1125Gly)
c.3269A>G (p.Asp1090Gly)
c.3266A>G (p.Asp1089Gly)
c.3233A>G (p.Asp1078Gly)
c.3083A>G (p.Asp1028Gly)
c.2567A>G (p.Asp856Gly)
n.3697A>G
c.3506A>G (p.Asp1169Gly)
c.3338A>G (p.Asp1113Gly)
c.3065A>G (p.Asp1022Gly)
c.2915A>G (p.Asp972Gly)
 gnomAD v4
2g.208326335A>TCA350115732PIKFYVEc.3524A>T (p.Asp1175Val)
c.3356A>T (p.Asp1119Val)
c.3560A>T (p.Asp1187Val)
c.3557A>T (p.Asp1186Val)
c.3542A>T (p.Asp1181Val)
c.3392A>T (p.Asp1131Val)
c.3389A>T (p.Asp1130Val)
c.3374A>T (p.Asp1125Val)
c.3269A>T (p.Asp1090Val)
c.3266A>T (p.Asp1089Val)
c.3233A>T (p.Asp1078Val)
c.3083A>T (p.Asp1028Val)
c.2567A>T (p.Asp856Val)
n.3697A>T
c.3506A>T (p.Asp1169Val)
c.3338A>T (p.Asp1113Val)
c.3065A>T (p.Asp1022Val)
c.2915A>T (p.Asp972Val)
2g.208326336T>ACA350115733PIKFYVEc.3525T>A (p.Asp1175Glu)
c.3357T>A (p.Asp1119Glu)
c.3561T>A (p.Asp1187Glu)
c.3558T>A (p.Asp1186Glu)
c.3543T>A (p.Asp1181Glu)
c.3393T>A (p.Asp1131Glu)
c.3390T>A (p.Asp1130Glu)
c.3375T>A (p.Asp1125Glu)
c.3270T>A (p.Asp1090Glu)
c.3267T>A (p.Asp1089Glu)
c.3234T>A (p.Asp1078Glu)
c.3084T>A (p.Asp1028Glu)
c.2568T>A (p.Asp856Glu)
n.3698T>A
c.3507T>A (p.Asp1169Glu)
c.3339T>A (p.Asp1113Glu)
c.3066T>A (p.Asp1022Glu)
c.2916T>A (p.Asp972Glu)
2g.208326336T>CCA431117086PIKFYVEc.3525T>C (p.Asp1175=)
c.3357T>C (p.Asp1119=)
c.3561T>C (p.Asp1187=)
c.3558T>C (p.Asp1186=)
c.3543T>C (p.Asp1181=)
c.3393T>C (p.Asp1131=)
c.3390T>C (p.Asp1130=)
c.3375T>C (p.Asp1125=)
c.3270T>C (p.Asp1090=)
c.3267T>C (p.Asp1089=)
c.3234T>C (p.Asp1078=)
c.3084T>C (p.Asp1028=)
c.2568T>C (p.Asp856=)
n.3698T>C
c.3507T>C (p.Asp1169=)
c.3339T>C (p.Asp1113=)
c.3066T>C (p.Asp1022=)
c.2916T>C (p.Asp972=)
2g.208326336T>GCA350115734PIKFYVEc.3525T>G (p.Asp1175Glu)
c.3357T>G (p.Asp1119Glu)
c.3561T>G (p.Asp1187Glu)
c.3558T>G (p.Asp1186Glu)
c.3543T>G (p.Asp1181Glu)
c.3393T>G (p.Asp1131Glu)
c.3390T>G (p.Asp1130Glu)
c.3375T>G (p.Asp1125Glu)
c.3270T>G (p.Asp1090Glu)
c.3267T>G (p.Asp1089Glu)
c.3234T>G (p.Asp1078Glu)
c.3084T>G (p.Asp1028Glu)
c.2568T>G (p.Asp856Glu)
n.3698T>G
c.3507T>G (p.Asp1169Glu)
c.3339T>G (p.Asp1113Glu)
c.3066T>G (p.Asp1022Glu)
c.2916T>G (p.Asp972Glu)
2g.208326337G>ACA350115735PIKFYVEc.3526G>A (p.Ala1176Thr)
c.3358G>A (p.Ala1120Thr)
c.3562G>A (p.Ala1188Thr)
c.3559G>A (p.Ala1187Thr)
c.3544G>A (p.Ala1182Thr)
c.3394G>A (p.Ala1132Thr)
c.3391G>A (p.Ala1131Thr)
c.3376G>A (p.Ala1126Thr)
c.3271G>A (p.Ala1091Thr)
c.3268G>A (p.Ala1090Thr)
c.3235G>A (p.Ala1079Thr)
c.3085G>A (p.Ala1029Thr)
c.2569G>A (p.Ala857Thr)
n.3699G>A
c.3508G>A (p.Ala1170Thr)
c.3340G>A (p.Ala1114Thr)
c.3067G>A (p.Ala1023Thr)
c.2917G>A (p.Ala973Thr)
 dbSNP gnomAD v4 COSMIC
2g.208326337G>CCA350115736PIKFYVEc.3526G>C (p.Ala1176Pro)
c.3358G>C (p.Ala1120Pro)
c.3562G>C (p.Ala1188Pro)
c.3559G>C (p.Ala1187Pro)
c.3544G>C (p.Ala1182Pro)
c.3394G>C (p.Ala1132Pro)
c.3391G>C (p.Ala1131Pro)
c.3376G>C (p.Ala1126Pro)
c.3271G>C (p.Ala1091Pro)
c.3268G>C (p.Ala1090Pro)
c.3235G>C (p.Ala1079Pro)
c.3085G>C (p.Ala1029Pro)
c.2569G>C (p.Ala857Pro)
n.3699G>C
c.3508G>C (p.Ala1170Pro)
c.3340G>C (p.Ala1114Pro)
c.3067G>C (p.Ala1023Pro)
c.2917G>C (p.Ala973Pro)
2g.208326337G=CA1324023464PIKFYVEc.3526G= (p.Ala1176=)
c.3358G= (p.Ala1120=)
c.3562G= (p.Ala1188=)
c.3559G= (p.Ala1187=)
c.3544G= (p.Ala1182=)
c.3394G= (p.Ala1132=)
c.3391G= (p.Ala1131=)
c.3376G= (p.Ala1126=)
c.3271G= (p.Ala1091=)
c.3268G= (p.Ala1090=)
c.3235G= (p.Ala1079=)
c.3085G= (p.Ala1029=)
c.2569G= (p.Ala857=)
n.3699G=
c.3508G= (p.Ala1170=)
c.3340G= (p.Ala1114=)
c.3067G= (p.Ala1023=)
c.2917G= (p.Ala973=)
2g.208326337G>TCA350115737PIKFYVEc.3526G>T (p.Ala1176Ser)
c.3358G>T (p.Ala1120Ser)
c.3562G>T (p.Ala1188Ser)
c.3559G>T (p.Ala1187Ser)
c.3544G>T (p.Ala1182Ser)
c.3394G>T (p.Ala1132Ser)
c.3391G>T (p.Ala1131Ser)
c.3376G>T (p.Ala1126Ser)
c.3271G>T (p.Ala1091Ser)
c.3268G>T (p.Ala1090Ser)
c.3235G>T (p.Ala1079Ser)
c.3085G>T (p.Ala1029Ser)
c.2569G>T (p.Ala857Ser)
n.3699G>T
c.3508G>T (p.Ala1170Ser)
c.3340G>T (p.Ala1114Ser)
c.3067G>T (p.Ala1023Ser)
c.2917G>T (p.Ala973Ser)
2g.208326338C>ACA350115738PIKFYVEc.3527C>A (p.Ala1176Glu)
c.3359C>A (p.Ala1120Glu)
c.3563C>A (p.Ala1188Glu)
c.3560C>A (p.Ala1187Glu)
c.3545C>A (p.Ala1182Glu)
c.3395C>A (p.Ala1132Glu)
c.3392C>A (p.Ala1131Glu)
c.3377C>A (p.Ala1126Glu)
c.3272C>A (p.Ala1091Glu)
c.3269C>A (p.Ala1090Glu)
c.3236C>A (p.Ala1079Glu)
c.3086C>A (p.Ala1029Glu)
c.2570C>A (p.Ala857Glu)
n.3700C>A
c.3509C>A (p.Ala1170Glu)
c.3341C>A (p.Ala1114Glu)
c.3068C>A (p.Ala1023Glu)
c.2918C>A (p.Ala973Glu)
2g.208326338C=CA1324023465PIKFYVEc.3527C= (p.Ala1176=)
c.3359C= (p.Ala1120=)
c.3563C= (p.Ala1188=)
c.3560C= (p.Ala1187=)
c.3545C= (p.Ala1182=)
c.3395C= (p.Ala1132=)
c.3392C= (p.Ala1131=)
c.3377C= (p.Ala1126=)
c.3272C= (p.Ala1091=)
c.3269C= (p.Ala1090=)
c.3236C= (p.Ala1079=)
c.3086C= (p.Ala1029=)
c.2570C= (p.Ala857=)
n.3700C=
c.3509C= (p.Ala1170=)
c.3341C= (p.Ala1114=)
c.3068C= (p.Ala1023=)
c.2918C= (p.Ala973=)
2g.208326338C>GCA2080052PIKFYVEc.3527C>G (p.Ala1176Gly)
c.3359C>G (p.Ala1120Gly)
c.3563C>G (p.Ala1188Gly)
c.3560C>G (p.Ala1187Gly)
c.3545C>G (p.Ala1182Gly)
c.3395C>G (p.Ala1132Gly)
c.3392C>G (p.Ala1131Gly)
c.3377C>G (p.Ala1126Gly)
c.3272C>G (p.Ala1091Gly)
c.3269C>G (p.Ala1090Gly)
c.3236C>G (p.Ala1079Gly)
c.3086C>G (p.Ala1029Gly)
c.2570C>G (p.Ala857Gly)
n.3700C>G
c.3509C>G (p.Ala1170Gly)
c.3341C>G (p.Ala1114Gly)
c.3068C>G (p.Ala1023Gly)
c.2918C>G (p.Ala973Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.208326338C>TCA350115739PIKFYVEc.3527C>T (p.Ala1176Val)
c.3359C>T (p.Ala1120Val)
c.3563C>T (p.Ala1188Val)
c.3560C>T (p.Ala1187Val)
c.3545C>T (p.Ala1182Val)
c.3395C>T (p.Ala1132Val)
c.3392C>T (p.Ala1131Val)
c.3377C>T (p.Ala1126Val)
c.3272C>T (p.Ala1091Val)
c.3269C>T (p.Ala1090Val)
c.3236C>T (p.Ala1079Val)
c.3086C>T (p.Ala1029Val)
c.2570C>T (p.Ala857Val)
n.3700C>T
c.3509C>T (p.Ala1170Val)
c.3341C>T (p.Ala1114Val)
c.3068C>T (p.Ala1023Val)
c.2918C>T (p.Ala973Val)
2g.208326339A=CA1324023466PIKFYVEc.3528A= (p.Ala1176=)
c.3360A= (p.Ala1120=)
c.3564A= (p.Ala1188=)
c.3561A= (p.Ala1187=)
c.3546A= (p.Ala1182=)
c.3396A= (p.Ala1132=)
c.3393A= (p.Ala1131=)
c.3378A= (p.Ala1126=)
c.3273A= (p.Ala1091=)
c.3270A= (p.Ala1090=)
c.3237A= (p.Ala1079=)
c.3087A= (p.Ala1029=)
c.2571A= (p.Ala857=)
n.3701A=
c.3510A= (p.Ala1170=)
c.3342A= (p.Ala1114=)
c.3069A= (p.Ala1023=)
c.2919A= (p.Ala973=)
2g.208326339A>CCA431117087PIKFYVEc.3528A>C (p.Ala1176=)
c.3360A>C (p.Ala1120=)
c.3564A>C (p.Ala1188=)
c.3561A>C (p.Ala1187=)
c.3546A>C (p.Ala1182=)
c.3396A>C (p.Ala1132=)
c.3393A>C (p.Ala1131=)
c.3378A>C (p.Ala1126=)
c.3273A>C (p.Ala1091=)
c.3270A>C (p.Ala1090=)
c.3237A>C (p.Ala1079=)
c.3087A>C (p.Ala1029=)
c.2571A>C (p.Ala857=)
n.3701A>C
c.3510A>C (p.Ala1170=)
c.3342A>C (p.Ala1114=)
c.3069A>C (p.Ala1023=)
c.2919A>C (p.Ala973=)
2g.208326339A>GCA2080053PIKFYVEc.3528A>G (p.Ala1176=)
c.3360A>G (p.Ala1120=)
c.3564A>G (p.Ala1188=)
c.3561A>G (p.Ala1187=)
c.3546A>G (p.Ala1182=)
c.3396A>G (p.Ala1132=)
c.3393A>G (p.Ala1131=)
c.3378A>G (p.Ala1126=)
c.3273A>G (p.Ala1091=)
c.3270A>G (p.Ala1090=)
c.3237A>G (p.Ala1079=)
c.3087A>G (p.Ala1029=)
c.2571A>G (p.Ala857=)
n.3701A>G
c.3510A>G (p.Ala1170=)
c.3342A>G (p.Ala1114=)
c.3069A>G (p.Ala1023=)
c.2919A>G (p.Ala973=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.208326339A>TCA431117088PIKFYVEc.3528A>T (p.Ala1176=)
c.3360A>T (p.Ala1120=)
c.3564A>T (p.Ala1188=)
c.3561A>T (p.Ala1187=)
c.3546A>T (p.Ala1182=)
c.3396A>T (p.Ala1132=)
c.3393A>T (p.Ala1131=)
c.3378A>T (p.Ala1126=)
c.3273A>T (p.Ala1091=)
c.3270A>T (p.Ala1090=)
c.3237A>T (p.Ala1079=)
c.3087A>T (p.Ala1029=)
c.2571A>T (p.Ala857=)
n.3701A>T
c.3510A>T (p.Ala1170=)
c.3342A>T (p.Ala1114=)
c.3069A>T (p.Ala1023=)
c.2919A>T (p.Ala973=)
2g.208326340T>ACA350115742PIKFYVEc.3529T>A (p.Ser1177Thr)
c.3361T>A (p.Ser1121Thr)
c.3565T>A (p.Ser1189Thr)
c.3562T>A (p.Ser1188Thr)
c.3547T>A (p.Ser1183Thr)
c.3397T>A (p.Ser1133Thr)
c.3394T>A (p.Ser1132Thr)
c.3379T>A (p.Ser1127Thr)
c.3274T>A (p.Ser1092Thr)
c.3271T>A (p.Ser1091Thr)
c.3238T>A (p.Ser1080Thr)
c.3088T>A (p.Ser1030Thr)
c.2572T>A (p.Ser858Thr)
n.3702T>A
c.3511T>A (p.Ser1171Thr)
c.3343T>A (p.Ser1115Thr)
c.3070T>A (p.Ser1024Thr)
c.2920T>A (p.Ser974Thr)
2g.208326340T>CCA350115740PIKFYVEc.3529T>C (p.Ser1177Pro)
c.3361T>C (p.Ser1121Pro)
c.3565T>C (p.Ser1189Pro)
c.3562T>C (p.Ser1188Pro)
c.3547T>C (p.Ser1183Pro)
c.3397T>C (p.Ser1133Pro)
c.3394T>C (p.Ser1132Pro)
c.3379T>C (p.Ser1127Pro)
c.3274T>C (p.Ser1092Pro)
c.3271T>C (p.Ser1091Pro)
c.3238T>C (p.Ser1080Pro)
c.3088T>C (p.Ser1030Pro)
c.2572T>C (p.Ser858Pro)
n.3702T>C
c.3511T>C (p.Ser1171Pro)
c.3343T>C (p.Ser1115Pro)
c.3070T>C (p.Ser1024Pro)
c.2920T>C (p.Ser974Pro)
2g.208326340T>GCA350115741PIKFYVEc.3529T>G (p.Ser1177Ala)
c.3361T>G (p.Ser1121Ala)
c.3565T>G (p.Ser1189Ala)
c.3562T>G (p.Ser1188Ala)
c.3547T>G (p.Ser1183Ala)
c.3397T>G (p.Ser1133Ala)
c.3394T>G (p.Ser1132Ala)
c.3379T>G (p.Ser1127Ala)
c.3274T>G (p.Ser1092Ala)
c.3271T>G (p.Ser1091Ala)
c.3238T>G (p.Ser1080Ala)
c.3088T>G (p.Ser1030Ala)
c.2572T>G (p.Ser858Ala)
n.3702T>G
c.3511T>G (p.Ser1171Ala)
c.3343T>G (p.Ser1115Ala)
c.3070T>G (p.Ser1024Ala)
c.2920T>G (p.Ser974Ala)
 dbSNP gnomAD v3 gnomAD v4
2g.208326340T=CA1324023467PIKFYVEc.3529T= (p.Ser1177=)
c.3361T= (p.Ser1121=)
c.3565T= (p.Ser1189=)
c.3562T= (p.Ser1188=)
c.3547T= (p.Ser1183=)
c.3397T= (p.Ser1133=)
c.3394T= (p.Ser1132=)
c.3379T= (p.Ser1127=)
c.3274T= (p.Ser1092=)
c.3271T= (p.Ser1091=)
c.3238T= (p.Ser1080=)
c.3088T= (p.Ser1030=)
c.2572T= (p.Ser858=)
n.3702T=
c.3511T= (p.Ser1171=)
c.3343T= (p.Ser1115=)
c.3070T= (p.Ser1024=)
c.2920T= (p.Ser974=)
2g.208326341C>ACA350115743PIKFYVEc.3530C>A (p.Ser1177Ter)
c.3362C>A (p.Ser1121Ter)
c.3566C>A (p.Ser1189Ter)
c.3563C>A (p.Ser1188Ter)
c.3548C>A (p.Ser1183Ter)
c.3398C>A (p.Ser1133Ter)
c.3395C>A (p.Ser1132Ter)
c.3380C>A (p.Ser1127Ter)
c.3275C>A (p.Ser1092Ter)
c.3272C>A (p.Ser1091Ter)
c.3239C>A (p.Ser1080Ter)
c.3089C>A (p.Ser1030Ter)
c.2573C>A (p.Ser858Ter)
n.3703C>A
c.3512C>A (p.Ser1171Ter)
c.3344C>A (p.Ser1115Ter)
c.3071C>A (p.Ser1024Ter)
c.2921C>A (p.Ser974Ter)
2g.208326341C>GCA350115744PIKFYVEc.3530C>G (p.Ser1177Ter)
c.3362C>G (p.Ser1121Ter)
c.3566C>G (p.Ser1189Ter)
c.3563C>G (p.Ser1188Ter)
c.3548C>G (p.Ser1183Ter)
c.3398C>G (p.Ser1133Ter)
c.3395C>G (p.Ser1132Ter)
c.3380C>G (p.Ser1127Ter)
c.3275C>G (p.Ser1092Ter)
c.3272C>G (p.Ser1091Ter)
c.3239C>G (p.Ser1080Ter)
c.3089C>G (p.Ser1030Ter)
c.2573C>G (p.Ser858Ter)
n.3703C>G
c.3512C>G (p.Ser1171Ter)
c.3344C>G (p.Ser1115Ter)
c.3071C>G (p.Ser1024Ter)
c.2921C>G (p.Ser974Ter)
2g.208326341C>TCA350115745PIKFYVEc.3530C>T (p.Ser1177Leu)
c.3362C>T (p.Ser1121Leu)
c.3566C>T (p.Ser1189Leu)
c.3563C>T (p.Ser1188Leu)
c.3548C>T (p.Ser1183Leu)
c.3398C>T (p.Ser1133Leu)
c.3395C>T (p.Ser1132Leu)
c.3380C>T (p.Ser1127Leu)
c.3275C>T (p.Ser1092Leu)
c.3272C>T (p.Ser1091Leu)
c.3239C>T (p.Ser1080Leu)
c.3089C>T (p.Ser1030Leu)
c.2573C>T (p.Ser858Leu)
n.3703C>T
c.3512C>T (p.Ser1171Leu)
c.3344C>T (p.Ser1115Leu)
c.3071C>T (p.Ser1024Leu)
c.2921C>T (p.Ser974Leu)
 gnomAD v4
2g.208326342A>CCA431117089PIKFYVEc.3531A>C (p.Ser1177=)
c.3363A>C (p.Ser1121=)
c.3567A>C (p.Ser1189=)
c.3564A>C (p.Ser1188=)
c.3549A>C (p.Ser1183=)
c.3399A>C (p.Ser1133=)
c.3396A>C (p.Ser1132=)
c.3381A>C (p.Ser1127=)
c.3276A>C (p.Ser1092=)
c.3273A>C (p.Ser1091=)
c.3240A>C (p.Ser1080=)
c.3090A>C (p.Ser1030=)
c.2574A>C (p.Ser858=)
n.3704A>C
c.3513A>C (p.Ser1171=)
c.3345A>C (p.Ser1115=)
c.3072A>C (p.Ser1024=)
c.2922A>C (p.Ser974=)
2g.208326342A>GCA431117090PIKFYVEc.3531A>G (p.Ser1177=)
c.3363A>G (p.Ser1121=)
c.3567A>G (p.Ser1189=)
c.3564A>G (p.Ser1188=)
c.3549A>G (p.Ser1183=)
c.3399A>G (p.Ser1133=)
c.3396A>G (p.Ser1132=)
c.3381A>G (p.Ser1127=)
c.3276A>G (p.Ser1092=)
c.3273A>G (p.Ser1091=)
c.3240A>G (p.Ser1080=)
c.3090A>G (p.Ser1030=)
c.2574A>G (p.Ser858=)
n.3704A>G
c.3513A>G (p.Ser1171=)
c.3345A>G (p.Ser1115=)
c.3072A>G (p.Ser1024=)
c.2922A>G (p.Ser974=)
2g.208326342A>TCA431117091PIKFYVEc.3531A>T (p.Ser1177=)
c.3363A>T (p.Ser1121=)
c.3567A>T (p.Ser1189=)
c.3564A>T (p.Ser1188=)
c.3549A>T (p.Ser1183=)
c.3399A>T (p.Ser1133=)
c.3396A>T (p.Ser1132=)
c.3381A>T (p.Ser1127=)
c.3276A>T (p.Ser1092=)
c.3273A>T (p.Ser1091=)
c.3240A>T (p.Ser1080=)
c.3090A>T (p.Ser1030=)
c.2574A>T (p.Ser858=)
n.3704A>T
c.3513A>T (p.Ser1171=)
c.3345A>T (p.Ser1115=)
c.3072A>T (p.Ser1024=)
c.2922A>T (p.Ser974=)
2g.208326343A=CA1324023468PIKFYVEc.3532A= (p.Ser1178=)
c.3364A= (p.Ser1122=)
c.3568A= (p.Ser1190=)
c.3565A= (p.Ser1189=)
c.3550A= (p.Ser1184=)
c.3400A= (p.Ser1134=)
c.3397A= (p.Ser1133=)
c.3382A= (p.Ser1128=)
c.3277A= (p.Ser1093=)
c.3274A= (p.Ser1092=)
c.3241A= (p.Ser1081=)
c.3091A= (p.Ser1031=)
c.2575A= (p.Ser859=)
n.3705A=
c.3514A= (p.Ser1172=)
c.3346A= (p.Ser1116=)
c.3073A= (p.Ser1025=)
c.2923A= (p.Ser975=)
2g.208326343A>CCA350115746PIKFYVEc.3532A>C (p.Ser1178Arg)
c.3364A>C (p.Ser1122Arg)
c.3568A>C (p.Ser1190Arg)
c.3565A>C (p.Ser1189Arg)
c.3550A>C (p.Ser1184Arg)
c.3400A>C (p.Ser1134Arg)
c.3397A>C (p.Ser1133Arg)
c.3382A>C (p.Ser1128Arg)
c.3277A>C (p.Ser1093Arg)
c.3274A>C (p.Ser1092Arg)
c.3241A>C (p.Ser1081Arg)
c.3091A>C (p.Ser1031Arg)
c.2575A>C (p.Ser859Arg)
n.3705A>C
c.3514A>C (p.Ser1172Arg)
c.3346A>C (p.Ser1116Arg)
c.3073A>C (p.Ser1025Arg)
c.2923A>C (p.Ser975Arg)
 dbSNP gnomAD v4
2g.208326343A>GCA2080054PIKFYVEc.3532A>G (p.Ser1178Gly)
c.3364A>G (p.Ser1122Gly)
c.3568A>G (p.Ser1190Gly)
c.3565A>G (p.Ser1189Gly)
c.3550A>G (p.Ser1184Gly)
c.3400A>G (p.Ser1134Gly)
c.3397A>G (p.Ser1133Gly)
c.3382A>G (p.Ser1128Gly)
c.3277A>G (p.Ser1093Gly)
c.3274A>G (p.Ser1092Gly)
c.3241A>G (p.Ser1081Gly)
c.3091A>G (p.Ser1031Gly)
c.2575A>G (p.Ser859Gly)
n.3705A>G
c.3514A>G (p.Ser1172Gly)
c.3346A>G (p.Ser1116Gly)
c.3073A>G (p.Ser1025Gly)
c.2923A>G (p.Ser975Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.208326343A>TCA350115747PIKFYVEc.3532A>T (p.Ser1178Cys)
c.3364A>T (p.Ser1122Cys)
c.3568A>T (p.Ser1190Cys)
c.3565A>T (p.Ser1189Cys)
c.3550A>T (p.Ser1184Cys)
c.3400A>T (p.Ser1134Cys)
c.3397A>T (p.Ser1133Cys)
c.3382A>T (p.Ser1128Cys)
c.3277A>T (p.Ser1093Cys)
c.3274A>T (p.Ser1092Cys)
c.3241A>T (p.Ser1081Cys)
c.3091A>T (p.Ser1031Cys)
c.2575A>T (p.Ser859Cys)
n.3705A>T
c.3514A>T (p.Ser1172Cys)
c.3346A>T (p.Ser1116Cys)
c.3073A>T (p.Ser1025Cys)
c.2923A>T (p.Ser975Cys)
2g.208326344G>ACA350115748PIKFYVEc.3533G>A (p.Ser1178Asn)
c.3365G>A (p.Ser1122Asn)
c.3569G>A (p.Ser1190Asn)
c.3566G>A (p.Ser1189Asn)
c.3551G>A (p.Ser1184Asn)
c.3401G>A (p.Ser1134Asn)
c.3398G>A (p.Ser1133Asn)
c.3383G>A (p.Ser1128Asn)
c.3278G>A (p.Ser1093Asn)
c.3275G>A (p.Ser1092Asn)
c.3242G>A (p.Ser1081Asn)
c.3092G>A (p.Ser1031Asn)
c.2576G>A (p.Ser859Asn)
n.3706G>A
c.3515G>A (p.Ser1172Asn)
c.3347G>A (p.Ser1116Asn)
c.3074G>A (p.Ser1025Asn)
c.2924G>A (p.Ser975Asn)
 dbSNP gnomAD v4
2g.208326344G>CCA350115749PIKFYVEc.3533G>C (p.Ser1178Thr)
c.3365G>C (p.Ser1122Thr)
c.3569G>C (p.Ser1190Thr)
c.3566G>C (p.Ser1189Thr)
c.3551G>C (p.Ser1184Thr)
c.3401G>C (p.Ser1134Thr)
c.3398G>C (p.Ser1133Thr)
c.3383G>C (p.Ser1128Thr)
c.3278G>C (p.Ser1093Thr)
c.3275G>C (p.Ser1092Thr)
c.3242G>C (p.Ser1081Thr)
c.3092G>C (p.Ser1031Thr)
c.2576G>C (p.Ser859Thr)
n.3706G>C
c.3515G>C (p.Ser1172Thr)
c.3347G>C (p.Ser1116Thr)
c.3074G>C (p.Ser1025Thr)
c.2924G>C (p.Ser975Thr)
2g.208326344G=CA1324023469PIKFYVEc.3533G= (p.Ser1178=)
c.3365G= (p.Ser1122=)
c.3569G= (p.Ser1190=)
c.3566G= (p.Ser1189=)
c.3551G= (p.Ser1184=)
c.3401G= (p.Ser1134=)
c.3398G= (p.Ser1133=)
c.3383G= (p.Ser1128=)
c.3278G= (p.Ser1093=)
c.3275G= (p.Ser1092=)
c.3242G= (p.Ser1081=)
c.3092G= (p.Ser1031=)
c.2576G= (p.Ser859=)
n.3706G=
c.3515G= (p.Ser1172=)
c.3347G= (p.Ser1116=)
c.3074G= (p.Ser1025=)
c.2924G= (p.Ser975=)
2g.208326344G>TCA350115750PIKFYVEc.3533G>T (p.Ser1178Ile)
c.3365G>T (p.Ser1122Ile)
c.3569G>T (p.Ser1190Ile)
c.3566G>T (p.Ser1189Ile)
c.3551G>T (p.Ser1184Ile)
c.3401G>T (p.Ser1134Ile)
c.3398G>T (p.Ser1133Ile)
c.3383G>T (p.Ser1128Ile)
c.3278G>T (p.Ser1093Ile)
c.3275G>T (p.Ser1092Ile)
c.3242G>T (p.Ser1081Ile)
c.3092G>T (p.Ser1031Ile)
c.2576G>T (p.Ser859Ile)
n.3706G>T
c.3515G>T (p.Ser1172Ile)
c.3347G>T (p.Ser1116Ile)
c.3074G>T (p.Ser1025Ile)
c.2924G>T (p.Ser975Ile)
2g.208326345T>ACA350115751PIKFYVEc.3534T>A (p.Ser1178Arg)
c.3366T>A (p.Ser1122Arg)
c.3570T>A (p.Ser1190Arg)
c.3567T>A (p.Ser1189Arg)
c.3552T>A (p.Ser1184Arg)
c.3402T>A (p.Ser1134Arg)
c.3399T>A (p.Ser1133Arg)
c.3384T>A (p.Ser1128Arg)
c.3279T>A (p.Ser1093Arg)
c.3276T>A (p.Ser1092Arg)
c.3243T>A (p.Ser1081Arg)
c.3093T>A (p.Ser1031Arg)
c.2577T>A (p.Ser859Arg)
n.3707T>A
c.3516T>A (p.Ser1172Arg)
c.3348T>A (p.Ser1116Arg)
c.3075T>A (p.Ser1025Arg)
c.2925T>A (p.Ser975Arg)
2g.208326345T>CCA431117092PIKFYVEc.3534T>C (p.Ser1178=)
c.3366T>C (p.Ser1122=)
c.3570T>C (p.Ser1190=)
c.3567T>C (p.Ser1189=)
c.3552T>C (p.Ser1184=)
c.3402T>C (p.Ser1134=)
c.3399T>C (p.Ser1133=)
c.3384T>C (p.Ser1128=)
c.3279T>C (p.Ser1093=)
c.3276T>C (p.Ser1092=)
c.3243T>C (p.Ser1081=)
c.3093T>C (p.Ser1031=)
c.2577T>C (p.Ser859=)
n.3707T>C
c.3516T>C (p.Ser1172=)
c.3348T>C (p.Ser1116=)
c.3075T>C (p.Ser1025=)
c.2925T>C (p.Ser975=)
2g.208326345T>GCA350115752PIKFYVEc.3534T>G (p.Ser1178Arg)
c.3366T>G (p.Ser1122Arg)
c.3570T>G (p.Ser1190Arg)
c.3567T>G (p.Ser1189Arg)
c.3552T>G (p.Ser1184Arg)
c.3402T>G (p.Ser1134Arg)
c.3399T>G (p.Ser1133Arg)
c.3384T>G (p.Ser1128Arg)
c.3279T>G (p.Ser1093Arg)
c.3276T>G (p.Ser1092Arg)
c.3243T>G (p.Ser1081Arg)
c.3093T>G (p.Ser1031Arg)
c.2577T>G (p.Ser859Arg)
n.3707T>G
c.3516T>G (p.Ser1172Arg)
c.3348T>G (p.Ser1116Arg)
c.3075T>G (p.Ser1025Arg)
c.2925T>G (p.Ser975Arg)
2g.208326345T=CA1324023470PIKFYVEc.3534T= (p.Ser1178=)
c.3366T= (p.Ser1122=)
c.3570T= (p.Ser1190=)
c.3567T= (p.Ser1189=)
c.3552T= (p.Ser1184=)
c.3402T= (p.Ser1134=)
c.3399T= (p.Ser1133=)
c.3384T= (p.Ser1128=)
c.3279T= (p.Ser1093=)
c.3276T= (p.Ser1092=)
c.3243T= (p.Ser1081=)
c.3093T= (p.Ser1031=)
c.2577T= (p.Ser859=)
n.3707T=
c.3516T= (p.Ser1172=)
c.3348T= (p.Ser1116=)
c.3075T= (p.Ser1025=)
c.2925T= (p.Ser975=)
2g.208326345_208326346insCCTGTACCGGAATCATTGTTGCCCA2080055PIKFYVEc.3534_3535insCCTGTACCGGAATCATTGTTGCC (p.Thr1179ProfsTer28)
c.3366_3367insCCTGTACCGGAATCATTGTTGCC (p.Thr1123ProfsTer28)
c.3570_3571insCCTGTACCGGAATCATTGTTGCC (p.Thr1191ProfsTer28)
c.3567_3568insCCTGTACCGGAATCATTGTTGCC (p.Thr1190ProfsTer28)
c.3552_3553insCCTGTACCGGAATCATTGTTGCC (p.Thr1185ProfsTer28)
c.3402_3403insCCTGTACCGGAATCATTGTTGCC (p.Thr1135ProfsTer28)
c.3399_3400insCCTGTACCGGAATCATTGTTGCC (p.Thr1134ProfsTer28)
c.3384_3385insCCTGTACCGGAATCATTGTTGCC (p.Thr1129ProfsTer28)
c.3279_3280insCCTGTACCGGAATCATTGTTGCC (p.Thr1094ProfsTer28)
c.3276_3277insCCTGTACCGGAATCATTGTTGCC (p.Thr1093ProfsTer28)
c.3243_3244insCCTGTACCGGAATCATTGTTGCC (p.Thr1082ProfsTer28)
c.3093_3094insCCTGTACCGGAATCATTGTTGCC (p.Thr1032ProfsTer28)
c.2577_2578insCCTGTACCGGAATCATTGTTGCC (p.Thr860ProfsTer28)
n.3707_3708insCCTGTACCGGAATCATTGTTGCC
c.3516_3517insCCTGTACCGGAATCATTGTTGCC (p.Thr1173ProfsTer28)
c.3348_3349insCCTGTACCGGAATCATTGTTGCC (p.Thr1117ProfsTer28)
c.3075_3076insCCTGTACCGGAATCATTGTTGCC (p.Thr1026ProfsTer28)
c.2925_2926insCCTGTACCGGAATCATTGTTGCC (p.Thr976ProfsTer28)
 dbSNP ExAC
2g.208326346A=CA1324023471PIKFYVEc.3535A= (p.Thr1179=)
c.3367A= (p.Thr1123=)
c.3571A= (p.Thr1191=)
c.3568A= (p.Thr1190=)
c.3553A= (p.Thr1185=)
c.3403A= (p.Thr1135=)
c.3400A= (p.Thr1134=)
c.3385A= (p.Thr1129=)
c.3280A= (p.Thr1094=)
c.3277A= (p.Thr1093=)
c.3244A= (p.Thr1082=)
c.3094A= (p.Thr1032=)
c.2578A= (p.Thr860=)
n.3708A=
c.3517A= (p.Thr1173=)
c.3349A= (p.Thr1117=)
c.3076A= (p.Thr1026=)
c.2926A= (p.Thr976=)
2g.208326346A>CCA350115755PIKFYVEc.3535A>C (p.Thr1179Pro)
c.3367A>C (p.Thr1123Pro)
c.3571A>C (p.Thr1191Pro)
c.3568A>C (p.Thr1190Pro)
c.3553A>C (p.Thr1185Pro)
c.3403A>C (p.Thr1135Pro)
c.3400A>C (p.Thr1134Pro)
c.3385A>C (p.Thr1129Pro)
c.3280A>C (p.Thr1094Pro)
c.3277A>C (p.Thr1093Pro)
c.3244A>C (p.Thr1082Pro)
c.3094A>C (p.Thr1032Pro)
c.2578A>C (p.Thr860Pro)
n.3708A>C
c.3517A>C (p.Thr1173Pro)
c.3349A>C (p.Thr1117Pro)
c.3076A>C (p.Thr1026Pro)
c.2926A>C (p.Thr976Pro)
 dbSNP gnomAD v2
2g.208326346A>GCA350115754PIKFYVEc.3535A>G (p.Thr1179Ala)
c.3367A>G (p.Thr1123Ala)
c.3571A>G (p.Thr1191Ala)
c.3568A>G (p.Thr1190Ala)
c.3553A>G (p.Thr1185Ala)
c.3403A>G (p.Thr1135Ala)
c.3400A>G (p.Thr1134Ala)
c.3385A>G (p.Thr1129Ala)
c.3280A>G (p.Thr1094Ala)
c.3277A>G (p.Thr1093Ala)
c.3244A>G (p.Thr1082Ala)
c.3094A>G (p.Thr1032Ala)
c.2578A>G (p.Thr860Ala)
n.3708A>G
c.3517A>G (p.Thr1173Ala)
c.3349A>G (p.Thr1117Ala)
c.3076A>G (p.Thr1026Ala)
c.2926A>G (p.Thr976Ala)
2g.208326346A>TCA350115753PIKFYVEc.3535A>T (p.Thr1179Ser)
c.3367A>T (p.Thr1123Ser)
c.3571A>T (p.Thr1191Ser)
c.3568A>T (p.Thr1190Ser)
c.3553A>T (p.Thr1185Ser)
c.3403A>T (p.Thr1135Ser)
c.3400A>T (p.Thr1134Ser)
c.3385A>T (p.Thr1129Ser)
c.3280A>T (p.Thr1094Ser)
c.3277A>T (p.Thr1093Ser)
c.3244A>T (p.Thr1082Ser)
c.3094A>T (p.Thr1032Ser)
c.2578A>T (p.Thr860Ser)
n.3708A>T
c.3517A>T (p.Thr1173Ser)
c.3349A>T (p.Thr1117Ser)
c.3076A>T (p.Thr1026Ser)
c.2926A>T (p.Thr976Ser)
 gnomAD v4
2g.208326347C>ACA350115756PIKFYVEc.3536C>A (p.Thr1179Asn)
c.3368C>A (p.Thr1123Asn)
c.3572C>A (p.Thr1191Asn)
c.3569C>A (p.Thr1190Asn)
c.3554C>A (p.Thr1185Asn)
c.3404C>A (p.Thr1135Asn)
c.3401C>A (p.Thr1134Asn)
c.3386C>A (p.Thr1129Asn)
c.3281C>A (p.Thr1094Asn)
c.3278C>A (p.Thr1093Asn)
c.3245C>A (p.Thr1082Asn)
c.3095C>A (p.Thr1032Asn)
c.2579C>A (p.Thr860Asn)
n.3709C>A
c.3518C>A (p.Thr1173Asn)
c.3350C>A (p.Thr1117Asn)
c.3077C>A (p.Thr1026Asn)
c.2927C>A (p.Thr976Asn)
2g.208326347C>GCA350115757PIKFYVEc.3536C>G (p.Thr1179Ser)
c.3368C>G (p.Thr1123Ser)
c.3572C>G (p.Thr1191Ser)
c.3569C>G (p.Thr1190Ser)
c.3554C>G (p.Thr1185Ser)
c.3404C>G (p.Thr1135Ser)
c.3401C>G (p.Thr1134Ser)
c.3386C>G (p.Thr1129Ser)
c.3281C>G (p.Thr1094Ser)
c.3278C>G (p.Thr1093Ser)
c.3245C>G (p.Thr1082Ser)
c.3095C>G (p.Thr1032Ser)
c.2579C>G (p.Thr860Ser)
n.3709C>G
c.3518C>G (p.Thr1173Ser)
c.3350C>G (p.Thr1117Ser)
c.3077C>G (p.Thr1026Ser)
c.2927C>G (p.Thr976Ser)
2g.208326347C>TCA350115758PIKFYVEc.3536C>T (p.Thr1179Ile)
c.3368C>T (p.Thr1123Ile)
c.3572C>T (p.Thr1191Ile)
c.3569C>T (p.Thr1190Ile)
c.3554C>T (p.Thr1185Ile)
c.3404C>T (p.Thr1135Ile)
c.3401C>T (p.Thr1134Ile)
c.3386C>T (p.Thr1129Ile)
c.3281C>T (p.Thr1094Ile)
c.3278C>T (p.Thr1093Ile)
c.3245C>T (p.Thr1082Ile)
c.3095C>T (p.Thr1032Ile)
c.2579C>T (p.Thr860Ile)
n.3709C>T
c.3518C>T (p.Thr1173Ile)
c.3350C>T (p.Thr1117Ile)
c.3077C>T (p.Thr1026Ile)
c.2927C>T (p.Thr976Ile)
2g.208326348T>ACA431117093PIKFYVEc.3537T>A (p.Thr1179=)
c.3369T>A (p.Thr1123=)
c.3573T>A (p.Thr1191=)
c.3570T>A (p.Thr1190=)
c.3555T>A (p.Thr1185=)
c.3405T>A (p.Thr1135=)
c.3402T>A (p.Thr1134=)
c.3387T>A (p.Thr1129=)
c.3282T>A (p.Thr1094=)
c.3279T>A (p.Thr1093=)
c.3246T>A (p.Thr1082=)
c.3096T>A (p.Thr1032=)
c.2580T>A (p.Thr860=)
n.3710T>A
c.3519T>A (p.Thr1173=)
c.3351T>A (p.Thr1117=)
c.3078T>A (p.Thr1026=)
c.2928T>A (p.Thr976=)
2g.208326348T>CCA431117094PIKFYVEc.3537T>C (p.Thr1179=)
c.3369T>C (p.Thr1123=)
c.3573T>C (p.Thr1191=)
c.3570T>C (p.Thr1190=)
c.3555T>C (p.Thr1185=)
c.3405T>C (p.Thr1135=)
c.3402T>C (p.Thr1134=)
c.3387T>C (p.Thr1129=)
c.3282T>C (p.Thr1094=)
c.3279T>C (p.Thr1093=)
c.3246T>C (p.Thr1082=)
c.3096T>C (p.Thr1032=)
c.2580T>C (p.Thr860=)
n.3710T>C
c.3519T>C (p.Thr1173=)
c.3351T>C (p.Thr1117=)
c.3078T>C (p.Thr1026=)
c.2928T>C (p.Thr976=)
2g.208326348T>GCA431117095PIKFYVEc.3537T>G (p.Thr1179=)
c.3369T>G (p.Thr1123=)
c.3573T>G (p.Thr1191=)
c.3570T>G (p.Thr1190=)
c.3555T>G (p.Thr1185=)
c.3405T>G (p.Thr1135=)
c.3402T>G (p.Thr1134=)
c.3387T>G (p.Thr1129=)
c.3282T>G (p.Thr1094=)
c.3279T>G (p.Thr1093=)
c.3246T>G (p.Thr1082=)
c.3096T>G (p.Thr1032=)
c.2580T>G (p.Thr860=)
n.3710T>G
c.3519T>G (p.Thr1173=)
c.3351T>G (p.Thr1117=)
c.3078T>G (p.Thr1026=)
c.2928T>G (p.Thr976=)
2g.208326348T=CA1324023472PIKFYVEc.3537T= (p.Thr1179=)
c.3369T= (p.Thr1123=)
c.3573T= (p.Thr1191=)
c.3570T= (p.Thr1190=)
c.3555T= (p.Thr1185=)
c.3405T= (p.Thr1135=)
c.3402T= (p.Thr1134=)
c.3387T= (p.Thr1129=)
c.3282T= (p.Thr1094=)
c.3279T= (p.Thr1093=)
c.3246T= (p.Thr1082=)
c.3096T= (p.Thr1032=)
c.2580T= (p.Thr860=)
n.3710T=
c.3519T= (p.Thr1173=)
c.3351T= (p.Thr1117=)
c.3078T= (p.Thr1026=)
c.2928T= (p.Thr976=)
2g.208326348_208326349insCCCCA2080056PIKFYVEc.3537_3538insCCC (p.Thr1179_Ser1180insPro)
c.3369_3370insCCC (p.Thr1123_Ser1124insPro)
c.3573_3574insCCC (p.Thr1191_Ser1192insPro)
c.3570_3571insCCC (p.Thr1190_Ser1191insPro)
c.3555_3556insCCC (p.Thr1185_Ser1186insPro)
c.3405_3406insCCC (p.Thr1135_Ser1136insPro)
c.3402_3403insCCC (p.Thr1134_Ser1135insPro)
c.3387_3388insCCC (p.Thr1129_Ser1130insPro)
c.3282_3283insCCC (p.Thr1094_Ser1095insPro)
c.3279_3280insCCC (p.Thr1093_Ser1094insPro)
c.3246_3247insCCC (p.Thr1082_Ser1083insPro)
c.3096_3097insCCC (p.Thr1032_Ser1033insPro)
c.2580_2581insCCC (p.Thr860_Ser861insPro)
n.3710_3711insCCC
c.3519_3520insCCC (p.Thr1173_Ser1174insPro)
c.3351_3352insCCC (p.Thr1117_Ser1118insPro)
c.3078_3079insCCC (p.Thr1026_Ser1027insPro)
c.2928_2929insCCC (p.Thr976_Ser977insPro)
 dbSNP ExAC
2g.208326349T>ACA350115759PIKFYVEc.3538T>A (p.Ser1180Thr)
c.3370T>A (p.Ser1124Thr)
c.3574T>A (p.Ser1192Thr)
c.3571T>A (p.Ser1191Thr)
c.3556T>A (p.Ser1186Thr)
c.3406T>A (p.Ser1136Thr)
c.3403T>A (p.Ser1135Thr)
c.3388T>A (p.Ser1130Thr)
c.3283T>A (p.Ser1095Thr)
c.3280T>A (p.Ser1094Thr)
c.3247T>A (p.Ser1083Thr)
c.3097T>A (p.Ser1033Thr)
c.2581T>A (p.Ser861Thr)
n.3711T>A
c.3520T>A (p.Ser1174Thr)
c.3352T>A (p.Ser1118Thr)
c.3079T>A (p.Ser1027Thr)
c.2929T>A (p.Ser977Thr)
2g.208326349T>CCA350115760PIKFYVEc.3538T>C (p.Ser1180Pro)
c.3370T>C (p.Ser1124Pro)
c.3574T>C (p.Ser1192Pro)
c.3571T>C (p.Ser1191Pro)
c.3556T>C (p.Ser1186Pro)
c.3406T>C (p.Ser1136Pro)
c.3403T>C (p.Ser1135Pro)
c.3388T>C (p.Ser1130Pro)
c.3283T>C (p.Ser1095Pro)
c.3280T>C (p.Ser1094Pro)
c.3247T>C (p.Ser1083Pro)
c.3097T>C (p.Ser1033Pro)
c.2581T>C (p.Ser861Pro)
n.3711T>C
c.3520T>C (p.Ser1174Pro)
c.3352T>C (p.Ser1118Pro)
c.3079T>C (p.Ser1027Pro)
c.2929T>C (p.Ser977Pro)
2g.208326349T>GCA350115761PIKFYVEc.3538T>G (p.Ser1180Ala)
c.3370T>G (p.Ser1124Ala)
c.3574T>G (p.Ser1192Ala)
c.3571T>G (p.Ser1191Ala)
c.3556T>G (p.Ser1186Ala)
c.3406T>G (p.Ser1136Ala)
c.3403T>G (p.Ser1135Ala)
c.3388T>G (p.Ser1130Ala)
c.3283T>G (p.Ser1095Ala)
c.3280T>G (p.Ser1094Ala)
c.3247T>G (p.Ser1083Ala)
c.3097T>G (p.Ser1033Ala)
c.2581T>G (p.Ser861Ala)
n.3711T>G
c.3520T>G (p.Ser1174Ala)
c.3352T>G (p.Ser1118Ala)
c.3079T>G (p.Ser1027Ala)
c.2929T>G (p.Ser977Ala)
2g.208326350C>ACA350115762PIKFYVEc.3539C>A (p.Ser1180Ter)
c.3371C>A (p.Ser1124Ter)
c.3575C>A (p.Ser1192Ter)
c.3572C>A (p.Ser1191Ter)
c.3557C>A (p.Ser1186Ter)
c.3407C>A (p.Ser1136Ter)
c.3404C>A (p.Ser1135Ter)
c.3389C>A (p.Ser1130Ter)
c.3284C>A (p.Ser1095Ter)
c.3281C>A (p.Ser1094Ter)
c.3248C>A (p.Ser1083Ter)
c.3098C>A (p.Ser1033Ter)
c.2582C>A (p.Ser861Ter)
n.3712C>A
c.3521C>A (p.Ser1174Ter)
c.3353C>A (p.Ser1118Ter)
c.3080C>A (p.Ser1027Ter)
c.2930C>A (p.Ser977Ter)
2g.208326350C>GCA350115764PIKFYVEc.3539C>G (p.Ser1180Ter)
c.3371C>G (p.Ser1124Ter)
c.3575C>G (p.Ser1192Ter)
c.3572C>G (p.Ser1191Ter)
c.3557C>G (p.Ser1186Ter)
c.3407C>G (p.Ser1136Ter)
c.3404C>G (p.Ser1135Ter)
c.3389C>G (p.Ser1130Ter)
c.3284C>G (p.Ser1095Ter)
c.3281C>G (p.Ser1094Ter)
c.3248C>G (p.Ser1083Ter)
c.3098C>G (p.Ser1033Ter)
c.2582C>G (p.Ser861Ter)
n.3712C>G
c.3521C>G (p.Ser1174Ter)
c.3353C>G (p.Ser1118Ter)
c.3080C>G (p.Ser1027Ter)
c.2930C>G (p.Ser977Ter)
2g.208326350C>TCA350115763PIKFYVEc.3539C>T (p.Ser1180Leu)
c.3371C>T (p.Ser1124Leu)
c.3575C>T (p.Ser1192Leu)
c.3572C>T (p.Ser1191Leu)
c.3557C>T (p.Ser1186Leu)
c.3407C>T (p.Ser1136Leu)
c.3404C>T (p.Ser1135Leu)
c.3389C>T (p.Ser1130Leu)
c.3284C>T (p.Ser1095Leu)
c.3281C>T (p.Ser1094Leu)
c.3248C>T (p.Ser1083Leu)
c.3098C>T (p.Ser1033Leu)
c.2582C>T (p.Ser861Leu)
n.3712C>T
c.3521C>T (p.Ser1174Leu)
c.3353C>T (p.Ser1118Leu)
c.3080C>T (p.Ser1027Leu)
c.2930C>T (p.Ser977Leu)
2g.208326351A=CA1324023473PIKFYVEc.3540A= (p.Ser1180=)
c.3372A= (p.Ser1124=)
c.3576A= (p.Ser1192=)
c.3573A= (p.Ser1191=)
c.3558A= (p.Ser1186=)
c.3408A= (p.Ser1136=)
c.3405A= (p.Ser1135=)
c.3390A= (p.Ser1130=)
c.3285A= (p.Ser1095=)
c.3282A= (p.Ser1094=)
c.3249A= (p.Ser1083=)
c.3099A= (p.Ser1033=)
c.2583A= (p.Ser861=)
n.3713A=
c.3522A= (p.Ser1174=)
c.3354A= (p.Ser1118=)
c.3081A= (p.Ser1027=)
c.2931A= (p.Ser977=)
2g.208326351A>CCA2080057PIKFYVEc.3540A>C (p.Ser1180=)
c.3372A>C (p.Ser1124=)
c.3576A>C (p.Ser1192=)
c.3573A>C (p.Ser1191=)
c.3558A>C (p.Ser1186=)
c.3408A>C (p.Ser1136=)
c.3405A>C (p.Ser1135=)
c.3390A>C (p.Ser1130=)
c.3285A>C (p.Ser1095=)
c.3282A>C (p.Ser1094=)
c.3249A>C (p.Ser1083=)
c.3099A>C (p.Ser1033=)
c.2583A>C (p.Ser861=)
n.3713A>C
c.3522A>C (p.Ser1174=)
c.3354A>C (p.Ser1118=)
c.3081A>C (p.Ser1027=)
c.2931A>C (p.Ser977=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.208326351A>GCA431117096PIKFYVEc.3540A>G (p.Ser1180=)
c.3372A>G (p.Ser1124=)
c.3576A>G (p.Ser1192=)
c.3573A>G (p.Ser1191=)
c.3558A>G (p.Ser1186=)
c.3408A>G (p.Ser1136=)
c.3405A>G (p.Ser1135=)
c.3390A>G (p.Ser1130=)
c.3285A>G (p.Ser1095=)
c.3282A>G (p.Ser1094=)
c.3249A>G (p.Ser1083=)
c.3099A>G (p.Ser1033=)
c.2583A>G (p.Ser861=)
n.3713A>G
c.3522A>G (p.Ser1174=)
c.3354A>G (p.Ser1118=)
c.3081A>G (p.Ser1027=)
c.2931A>G (p.Ser977=)
 gnomAD v4
2g.208326351A>TCA431117097PIKFYVEc.3540A>T (p.Ser1180=)
c.3372A>T (p.Ser1124=)
c.3576A>T (p.Ser1192=)
c.3573A>T (p.Ser1191=)
c.3558A>T (p.Ser1186=)
c.3408A>T (p.Ser1136=)
c.3405A>T (p.Ser1135=)
c.3390A>T (p.Ser1130=)
c.3285A>T (p.Ser1095=)
c.3282A>T (p.Ser1094=)
c.3249A>T (p.Ser1083=)
c.3099A>T (p.Ser1033=)
c.2583A>T (p.Ser861=)
n.3713A>T
c.3522A>T (p.Ser1174=)
c.3354A>T (p.Ser1118=)
c.3081A>T (p.Ser1027=)
c.2931A>T (p.Ser977=)
2g.208326352A>CCA350115765PIKFYVEc.3541A>C (p.Ser1181Arg)
c.3373A>C (p.Ser1125Arg)
c.3577A>C (p.Ser1193Arg)
c.3574A>C (p.Ser1192Arg)
c.3559A>C (p.Ser1187Arg)
c.3409A>C (p.Ser1137Arg)
c.3406A>C (p.Ser1136Arg)
c.3391A>C (p.Ser1131Arg)
c.3286A>C (p.Ser1096Arg)
c.3283A>C (p.Ser1095Arg)
c.3250A>C (p.Ser1084Arg)
c.3100A>C (p.Ser1034Arg)
c.2584A>C (p.Ser862Arg)
n.3714A>C
c.3523A>C (p.Ser1175Arg)
c.3355A>C (p.Ser1119Arg)
c.3082A>C (p.Ser1028Arg)
c.2932A>C (p.Ser978Arg)
2g.208326352A>GCA350115766PIKFYVEc.3541A>G (p.Ser1181Gly)
c.3373A>G (p.Ser1125Gly)
c.3577A>G (p.Ser1193Gly)
c.3574A>G (p.Ser1192Gly)
c.3559A>G (p.Ser1187Gly)
c.3409A>G (p.Ser1137Gly)
c.3406A>G (p.Ser1136Gly)
c.3391A>G (p.Ser1131Gly)
c.3286A>G (p.Ser1096Gly)
c.3283A>G (p.Ser1095Gly)
c.3250A>G (p.Ser1084Gly)
c.3100A>G (p.Ser1034Gly)
c.2584A>G (p.Ser862Gly)
n.3714A>G
c.3523A>G (p.Ser1175Gly)
c.3355A>G (p.Ser1119Gly)
c.3082A>G (p.Ser1028Gly)
c.2932A>G (p.Ser978Gly)
 gnomAD v4
2g.208326352A>TCA350115767PIKFYVEc.3541A>T (p.Ser1181Cys)
c.3373A>T (p.Ser1125Cys)
c.3577A>T (p.Ser1193Cys)
c.3574A>T (p.Ser1192Cys)
c.3559A>T (p.Ser1187Cys)
c.3409A>T (p.Ser1137Cys)
c.3406A>T (p.Ser1136Cys)
c.3391A>T (p.Ser1131Cys)
c.3286A>T (p.Ser1096Cys)
c.3283A>T (p.Ser1095Cys)
c.3250A>T (p.Ser1084Cys)
c.3100A>T (p.Ser1034Cys)
c.2584A>T (p.Ser862Cys)
n.3714A>T
c.3523A>T (p.Ser1175Cys)
c.3355A>T (p.Ser1119Cys)
c.3082A>T (p.Ser1028Cys)
c.2932A>T (p.Ser978Cys)
2g.208326353G>ACA350115768PIKFYVEc.3542G>A (p.Ser1181Asn)
c.3374G>A (p.Ser1125Asn)
c.3578G>A (p.Ser1193Asn)
c.3575G>A (p.Ser1192Asn)
c.3560G>A (p.Ser1187Asn)
c.3410G>A (p.Ser1137Asn)
c.3407G>A (p.Ser1136Asn)
c.3392G>A (p.Ser1131Asn)
c.3287G>A (p.Ser1096Asn)
c.3284G>A (p.Ser1095Asn)
c.3251G>A (p.Ser1084Asn)
c.3101G>A (p.Ser1034Asn)
c.2585G>A (p.Ser862Asn)
n.3715G>A
c.3524G>A (p.Ser1175Asn)
c.3356G>A (p.Ser1119Asn)
c.3083G>A (p.Ser1028Asn)
c.2933G>A (p.Ser978Asn)
2g.208326353G>CCA350115770PIKFYVEc.3542G>C (p.Ser1181Thr)
c.3374G>C (p.Ser1125Thr)
c.3578G>C (p.Ser1193Thr)
c.3575G>C (p.Ser1192Thr)
c.3560G>C (p.Ser1187Thr)
c.3410G>C (p.Ser1137Thr)
c.3407G>C (p.Ser1136Thr)
c.3392G>C (p.Ser1131Thr)
c.3287G>C (p.Ser1096Thr)
c.3284G>C (p.Ser1095Thr)
c.3251G>C (p.Ser1084Thr)
c.3101G>C (p.Ser1034Thr)
c.2585G>C (p.Ser862Thr)
n.3715G>C
c.3524G>C (p.Ser1175Thr)
c.3356G>C (p.Ser1119Thr)
c.3083G>C (p.Ser1028Thr)
c.2933G>C (p.Ser978Thr)
2g.208326353G>TCA350115769PIKFYVEc.3542G>T (p.Ser1181Ile)
c.3374G>T (p.Ser1125Ile)
c.3578G>T (p.Ser1193Ile)
c.3575G>T (p.Ser1192Ile)
c.3560G>T (p.Ser1187Ile)
c.3410G>T (p.Ser1137Ile)
c.3407G>T (p.Ser1136Ile)
c.3392G>T (p.Ser1131Ile)
c.3287G>T (p.Ser1096Ile)
c.3284G>T (p.Ser1095Ile)
c.3251G>T (p.Ser1084Ile)
c.3101G>T (p.Ser1034Ile)
c.2585G>T (p.Ser862Ile)
n.3715G>T
c.3524G>T (p.Ser1175Ile)
c.3356G>T (p.Ser1119Ile)
c.3083G>T (p.Ser1028Ile)
c.2933G>T (p.Ser978Ile)
2g.208326353_208326354delinsGTCA1324023474PIKFYVEc.3542_3543delinsGT (p.Ser1181=)
c.3374_3375delinsGT (p.Ser1125=)
c.3578_3579delinsGT (p.Ser1193=)
c.3575_3576delinsGT (p.Ser1192=)
c.3560_3561delinsGT (p.Ser1187=)
c.3410_3411delinsGT (p.Ser1137=)
c.3407_3408delinsGT (p.Ser1136=)
c.3392_3393delinsGT (p.Ser1131=)
c.3287_3288delinsGT (p.Ser1096=)
c.3284_3285delinsGT (p.Ser1095=)
c.3251_3252delinsGT (p.Ser1084=)
c.3101_3102delinsGT (p.Ser1034=)
c.2585_2586delinsGT (p.Ser862=)
n.3715_3716delinsGT
c.3524_3525delinsGT (p.Ser1175=)
c.3356_3357delinsGT (p.Ser1119=)
c.3083_3084delinsGT (p.Ser1028=)
c.2933_2934delinsGT (p.Ser978=)
2g.208326354delCA2080058PIKFYVEc.3543del (p.Ser1181ArgfsTer18)
c.3375del (p.Ser1125ArgfsTer18)
c.3579del (p.Ser1193ArgfsTer18)
c.3576del (p.Ser1192ArgfsTer18)
c.3561del (p.Ser1187ArgfsTer18)
c.3411del (p.Ser1137ArgfsTer18)
c.3408del (p.Ser1136ArgfsTer18)
c.3393del (p.Ser1131ArgfsTer18)
c.3288del (p.Ser1096ArgfsTer18)
c.3285del (p.Ser1095ArgfsTer18)
c.3252del (p.Ser1084ArgfsTer18)
c.3102del (p.Ser1034ArgfsTer18)
c.2586del (p.Ser862ArgfsTer18)
n.3716del
c.3525del (p.Ser1175ArgfsTer18)
c.3357del (p.Ser1119ArgfsTer18)
c.3084del (p.Ser1028ArgfsTer18)
c.2934del (p.Ser978ArgfsTer18)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.208326354T>ACA350115771PIKFYVEc.3543T>A (p.Ser1181Arg)
c.3375T>A (p.Ser1125Arg)
c.3579T>A (p.Ser1193Arg)
c.3576T>A (p.Ser1192Arg)
c.3561T>A (p.Ser1187Arg)
c.3411T>A (p.Ser1137Arg)
c.3408T>A (p.Ser1136Arg)
c.3393T>A (p.Ser1131Arg)
c.3288T>A (p.Ser1096Arg)
c.3285T>A (p.Ser1095Arg)
c.3252T>A (p.Ser1084Arg)
c.3102T>A (p.Ser1034Arg)
c.2586T>A (p.Ser862Arg)
n.3716T>A
c.3525T>A (p.Ser1175Arg)
c.3357T>A (p.Ser1119Arg)
c.3084T>A (p.Ser1028Arg)
c.2934T>A (p.Ser978Arg)
2g.208326354T>CCA431117098PIKFYVEc.3543T>C (p.Ser1181=)
c.3375T>C (p.Ser1125=)
c.3579T>C (p.Ser1193=)
c.3576T>C (p.Ser1192=)
c.3561T>C (p.Ser1187=)
c.3411T>C (p.Ser1137=)
c.3408T>C (p.Ser1136=)
c.3393T>C (p.Ser1131=)
c.3288T>C (p.Ser1096=)
c.3285T>C (p.Ser1095=)
c.3252T>C (p.Ser1084=)
c.3102T>C (p.Ser1034=)
c.2586T>C (p.Ser862=)
n.3716T>C
c.3525T>C (p.Ser1175=)
c.3357T>C (p.Ser1119=)
c.3084T>C (p.Ser1028=)
c.2934T>C (p.Ser978=)
2g.208326354T>GCA350115772PIKFYVEc.3543T>G (p.Ser1181Arg)
c.3375T>G (p.Ser1125Arg)
c.3579T>G (p.Ser1193Arg)
c.3576T>G (p.Ser1192Arg)
c.3561T>G (p.Ser1187Arg)
c.3411T>G (p.Ser1137Arg)
c.3408T>G (p.Ser1136Arg)
c.3393T>G (p.Ser1131Arg)
c.3288T>G (p.Ser1096Arg)
c.3285T>G (p.Ser1095Arg)
c.3252T>G (p.Ser1084Arg)
c.3102T>G (p.Ser1034Arg)
c.2586T>G (p.Ser862Arg)
n.3716T>G
c.3525T>G (p.Ser1175Arg)
c.3357T>G (p.Ser1119Arg)
c.3084T>G (p.Ser1028Arg)
c.2934T>G (p.Ser978Arg)
2g.208326355G>ACA350115773PIKFYVEc.3544G>A (p.Gly1182Ser)
c.3376G>A (p.Gly1126Ser)
c.3580G>A (p.Gly1194Ser)
c.3577G>A (p.Gly1193Ser)
c.3562G>A (p.Gly1188Ser)
c.3412G>A (p.Gly1138Ser)
c.3409G>A (p.Gly1137Ser)
c.3394G>A (p.Gly1132Ser)
c.3289G>A (p.Gly1097Ser)
c.3286G>A (p.Gly1096Ser)
c.3253G>A (p.Gly1085Ser)
c.3103G>A (p.Gly1035Ser)
c.2587G>A (p.Gly863Ser)
n.3717G>A
c.3526G>A (p.Gly1176Ser)
c.3358G>A (p.Gly1120Ser)
c.3085G>A (p.Gly1029Ser)
c.2935G>A (p.Gly979Ser)
2g.208326355G>CCA350115774PIKFYVEc.3544G>C (p.Gly1182Arg)
c.3376G>C (p.Gly1126Arg)
c.3580G>C (p.Gly1194Arg)
c.3577G>C (p.Gly1193Arg)
c.3562G>C (p.Gly1188Arg)
c.3412G>C (p.Gly1138Arg)
c.3409G>C (p.Gly1137Arg)
c.3394G>C (p.Gly1132Arg)
c.3289G>C (p.Gly1097Arg)
c.3286G>C (p.Gly1096Arg)
c.3253G>C (p.Gly1085Arg)
c.3103G>C (p.Gly1035Arg)
c.2587G>C (p.Gly863Arg)
n.3717G>C
c.3526G>C (p.Gly1176Arg)
c.3358G>C (p.Gly1120Arg)
c.3085G>C (p.Gly1029Arg)
c.2935G>C (p.Gly979Arg)
2g.208326355G>TCA350115775PIKFYVEc.3544G>T (p.Gly1182Cys)
c.3376G>T (p.Gly1126Cys)
c.3580G>T (p.Gly1194Cys)
c.3577G>T (p.Gly1193Cys)
c.3562G>T (p.Gly1188Cys)
c.3412G>T (p.Gly1138Cys)
c.3409G>T (p.Gly1137Cys)
c.3394G>T (p.Gly1132Cys)
c.3289G>T (p.Gly1097Cys)
c.3286G>T (p.Gly1096Cys)
c.3253G>T (p.Gly1085Cys)
c.3103G>T (p.Gly1035Cys)
c.2587G>T (p.Gly863Cys)
n.3717G>T
c.3526G>T (p.Gly1176Cys)
c.3358G>T (p.Gly1120Cys)
c.3085G>T (p.Gly1029Cys)
c.2935G>T (p.Gly979Cys)
2g.208326356G>ACA64596794PIKFYVEc.3545G>A (p.Gly1182Asp)
c.3377G>A (p.Gly1126Asp)
c.3581G>A (p.Gly1194Asp)
c.3578G>A (p.Gly1193Asp)
c.3563G>A (p.Gly1188Asp)
c.3413G>A (p.Gly1138Asp)
c.3410G>A (p.Gly1137Asp)
c.3395G>A (p.Gly1132Asp)
c.3290G>A (p.Gly1097Asp)
c.3287G>A (p.Gly1096Asp)
c.3254G>A (p.Gly1085Asp)
c.3104G>A (p.Gly1035Asp)
c.2588G>A (p.Gly863Asp)
n.3718G>A
c.3527G>A (p.Gly1176Asp)
c.3359G>A (p.Gly1120Asp)
c.3086G>A (p.Gly1029Asp)
c.2936G>A (p.Gly979Asp)
 dbSNP
2g.208326356G>CCA350115776PIKFYVEc.3545G>C (p.Gly1182Ala)
c.3377G>C (p.Gly1126Ala)
c.3581G>C (p.Gly1194Ala)
c.3578G>C (p.Gly1193Ala)
c.3563G>C (p.Gly1188Ala)
c.3413G>C (p.Gly1138Ala)
c.3410G>C (p.Gly1137Ala)
c.3395G>C (p.Gly1132Ala)
c.3290G>C (p.Gly1097Ala)
c.3287G>C (p.Gly1096Ala)
c.3254G>C (p.Gly1085Ala)
c.3104G>C (p.Gly1035Ala)
c.2588G>C (p.Gly863Ala)
n.3718G>C
c.3527G>C (p.Gly1176Ala)
c.3359G>C (p.Gly1120Ala)
c.3086G>C (p.Gly1029Ala)
c.2936G>C (p.Gly979Ala)
2g.208326356G=CA1324023475PIKFYVEc.3545G= (p.Gly1182=)
c.3377G= (p.Gly1126=)
c.3581G= (p.Gly1194=)
c.3578G= (p.Gly1193=)
c.3563G= (p.Gly1188=)
c.3413G= (p.Gly1138=)
c.3410G= (p.Gly1137=)
c.3395G= (p.Gly1132=)
c.3290G= (p.Gly1097=)
c.3287G= (p.Gly1096=)
c.3254G= (p.Gly1085=)
c.3104G= (p.Gly1035=)
c.2588G= (p.Gly863=)
n.3718G=
c.3527G= (p.Gly1176=)
c.3359G= (p.Gly1120=)
c.3086G= (p.Gly1029=)
c.2936G= (p.Gly979=)
2g.208326356G>TCA350115777PIKFYVEc.3545G>T (p.Gly1182Val)
c.3377G>T (p.Gly1126Val)
c.3581G>T (p.Gly1194Val)
c.3578G>T (p.Gly1193Val)
c.3563G>T (p.Gly1188Val)
c.3413G>T (p.Gly1138Val)
c.3410G>T (p.Gly1137Val)
c.3395G>T (p.Gly1132Val)
c.3290G>T (p.Gly1097Val)
c.3287G>T (p.Gly1096Val)
c.3254G>T (p.Gly1085Val)
c.3104G>T (p.Gly1035Val)
c.2588G>T (p.Gly863Val)
n.3718G>T
c.3527G>T (p.Gly1176Val)
c.3359G>T (p.Gly1120Val)
c.3086G>T (p.Gly1029Val)
c.2936G>T (p.Gly979Val)
2g.208326357C>ACA431117099PIKFYVEc.3546C>A (p.Gly1182=)
c.3378C>A (p.Gly1126=)
c.3582C>A (p.Gly1194=)
c.3579C>A (p.Gly1193=)
c.3564C>A (p.Gly1188=)
c.3414C>A (p.Gly1138=)
c.3411C>A (p.Gly1137=)
c.3396C>A (p.Gly1132=)
c.3291C>A (p.Gly1097=)
c.3288C>A (p.Gly1096=)
c.3255C>A (p.Gly1085=)
c.3105C>A (p.Gly1035=)
c.2589C>A (p.Gly863=)
n.3719C>A
c.3528C>A (p.Gly1176=)
c.3360C>A (p.Gly1120=)
c.3087C>A (p.Gly1029=)
c.2937C>A (p.Gly979=)
2g.208326357C>GCA431117100PIKFYVEc.3546C>G (p.Gly1182=)
c.3378C>G (p.Gly1126=)
c.3582C>G (p.Gly1194=)
c.3579C>G (p.Gly1193=)
c.3564C>G (p.Gly1188=)
c.3414C>G (p.Gly1138=)
c.3411C>G (p.Gly1137=)
c.3396C>G (p.Gly1132=)
c.3291C>G (p.Gly1097=)
c.3288C>G (p.Gly1096=)
c.3255C>G (p.Gly1085=)
c.3105C>G (p.Gly1035=)
c.2589C>G (p.Gly863=)
n.3719C>G
c.3528C>G (p.Gly1176=)
c.3360C>G (p.Gly1120=)
c.3087C>G (p.Gly1029=)
c.2937C>G (p.Gly979=)
2g.208326357C>TCA431117101PIKFYVEc.3546C>T (p.Gly1182=)
c.3378C>T (p.Gly1126=)
c.3582C>T (p.Gly1194=)
c.3579C>T (p.Gly1193=)
c.3564C>T (p.Gly1188=)
c.3414C>T (p.Gly1138=)
c.3411C>T (p.Gly1137=)
c.3396C>T (p.Gly1132=)
c.3291C>T (p.Gly1097=)
c.3288C>T (p.Gly1096=)
c.3255C>T (p.Gly1085=)
c.3105C>T (p.Gly1035=)
c.2589C>T (p.Gly863=)
n.3719C>T
c.3528C>T (p.Gly1176=)
c.3360C>T (p.Gly1120=)
c.3087C>T (p.Gly1029=)
c.2937C>T (p.Gly979=)
2g.208326358C>ACA2080059PIKFYVEc.3547C>A (p.Gln1183Lys)
c.3379C>A (p.Gln1127Lys)
c.3583C>A (p.Gln1195Lys)
c.3580C>A (p.Gln1194Lys)
c.3565C>A (p.Gln1189Lys)
c.3415C>A (p.Gln1139Lys)
c.3412C>A (p.Gln1138Lys)
c.3397C>A (p.Gln1133Lys)
c.3292C>A (p.Gln1098Lys)
c.3289C>A (p.Gln1097Lys)
c.3256C>A (p.Gln1086Lys)
c.3106C>A (p.Gln1036Lys)
c.2590C>A (p.Gln864Lys)
n.3720C>A
c.3529C>A (p.Gln1177Lys)
c.3361C>A (p.Gln1121Lys)
c.3088C>A (p.Gln1030Lys)
c.2938C>A (p.Gln980Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.208326358C=CA1324023476PIKFYVEc.3547C= (p.Gln1183=)
c.3379C= (p.Gln1127=)
c.3583C= (p.Gln1195=)
c.3580C= (p.Gln1194=)
c.3565C= (p.Gln1189=)
c.3415C= (p.Gln1139=)
c.3412C= (p.Gln1138=)
c.3397C= (p.Gln1133=)
c.3292C= (p.Gln1098=)
c.3289C= (p.Gln1097=)
c.3256C= (p.Gln1086=)
c.3106C= (p.Gln1036=)
c.2590C= (p.Gln864=)
n.3720C=
c.3529C= (p.Gln1177=)
c.3361C= (p.Gln1121=)
c.3088C= (p.Gln1030=)
c.2938C= (p.Gln980=)
2g.208326358C>GCA350115778PIKFYVEc.3547C>G (p.Gln1183Glu)
c.3379C>G (p.Gln1127Glu)
c.3583C>G (p.Gln1195Glu)
c.3580C>G (p.Gln1194Glu)
c.3565C>G (p.Gln1189Glu)
c.3415C>G (p.Gln1139Glu)
c.3412C>G (p.Gln1138Glu)
c.3397C>G (p.Gln1133Glu)
c.3292C>G (p.Gln1098Glu)
c.3289C>G (p.Gln1097Glu)
c.3256C>G (p.Gln1086Glu)
c.3106C>G (p.Gln1036Glu)
c.2590C>G (p.Gln864Glu)
n.3720C>G
c.3529C>G (p.Gln1177Glu)
c.3361C>G (p.Gln1121Glu)
c.3088C>G (p.Gln1030Glu)
c.2938C>G (p.Gln980Glu)
 dbSNP gnomAD v4
2g.208326358C>TCA350115779PIKFYVEc.3547C>T (p.Gln1183Ter)
c.3379C>T (p.Gln1127Ter)
c.3583C>T (p.Gln1195Ter)
c.3580C>T (p.Gln1194Ter)
c.3565C>T (p.Gln1189Ter)
c.3415C>T (p.Gln1139Ter)
c.3412C>T (p.Gln1138Ter)
c.3397C>T (p.Gln1133Ter)
c.3292C>T (p.Gln1098Ter)
c.3289C>T (p.Gln1097Ter)
c.3256C>T (p.Gln1086Ter)
c.3106C>T (p.Gln1036Ter)
c.2590C>T (p.Gln864Ter)
n.3720C>T
c.3529C>T (p.Gln1177Ter)
c.3361C>T (p.Gln1121Ter)
c.3088C>T (p.Gln1030Ter)
c.2938C>T (p.Gln980Ter)
 dbSNP
2g.208326359A>CCA350115782PIKFYVEc.3548A>C (p.Gln1183Pro)
c.3380A>C (p.Gln1127Pro)
c.3584A>C (p.Gln1195Pro)
c.3581A>C (p.Gln1194Pro)
c.3566A>C (p.Gln1189Pro)
c.3416A>C (p.Gln1139Pro)
c.3413A>C (p.Gln1138Pro)
c.3398A>C (p.Gln1133Pro)
c.3293A>C (p.Gln1098Pro)
c.3290A>C (p.Gln1097Pro)
c.3257A>C (p.Gln1086Pro)
c.3107A>C (p.Gln1036Pro)
c.2591A>C (p.Gln864Pro)
n.3721A>C
c.3530A>C (p.Gln1177Pro)
c.3362A>C (p.Gln1121Pro)
c.3089A>C (p.Gln1030Pro)
c.2939A>C (p.Gln980Pro)
2g.208326359A>GCA350115781PIKFYVEc.3548A>G (p.Gln1183Arg)
c.3380A>G (p.Gln1127Arg)
c.3584A>G (p.Gln1195Arg)
c.3581A>G (p.Gln1194Arg)
c.3566A>G (p.Gln1189Arg)
c.3416A>G (p.Gln1139Arg)
c.3413A>G (p.Gln1138Arg)
c.3398A>G (p.Gln1133Arg)
c.3293A>G (p.Gln1098Arg)
c.3290A>G (p.Gln1097Arg)
c.3257A>G (p.Gln1086Arg)
c.3107A>G (p.Gln1036Arg)
c.2591A>G (p.Gln864Arg)
n.3721A>G
c.3530A>G (p.Gln1177Arg)
c.3362A>G (p.Gln1121Arg)
c.3089A>G (p.Gln1030Arg)
c.2939A>G (p.Gln980Arg)
2g.208326359A>TCA350115780PIKFYVEc.3548A>T (p.Gln1183Leu)
c.3380A>T (p.Gln1127Leu)
c.3584A>T (p.Gln1195Leu)
c.3581A>T (p.Gln1194Leu)
c.3566A>T (p.Gln1189Leu)
c.3416A>T (p.Gln1139Leu)
c.3413A>T (p.Gln1138Leu)
c.3398A>T (p.Gln1133Leu)
c.3293A>T (p.Gln1098Leu)
c.3290A>T (p.Gln1097Leu)
c.3257A>T (p.Gln1086Leu)
c.3107A>T (p.Gln1036Leu)
c.2591A>T (p.Gln864Leu)
n.3721A>T
c.3530A>T (p.Gln1177Leu)
c.3362A>T (p.Gln1121Leu)
c.3089A>T (p.Gln1030Leu)
c.2939A>T (p.Gln980Leu)
2g.208326360A=CA1324023477PIKFYVEc.3549A= (p.Gln1183=)
c.3381A= (p.Gln1127=)
c.3585A= (p.Gln1195=)
c.3582A= (p.Gln1194=)
c.3567A= (p.Gln1189=)
c.3417A= (p.Gln1139=)
c.3414A= (p.Gln1138=)
c.3399A= (p.Gln1133=)
c.3294A= (p.Gln1098=)
c.3291A= (p.Gln1097=)
c.3258A= (p.Gln1086=)
c.3108A= (p.Gln1036=)
c.2592A= (p.Gln864=)
n.3722A=
c.3531A= (p.Gln1177=)
c.3363A= (p.Gln1121=)
c.3090A= (p.Gln1030=)
c.2940A= (p.Gln980=)
2g.208326360A>CCA350115783PIKFYVEc.3549A>C (p.Gln1183His)
c.3381A>C (p.Gln1127His)
c.3585A>C (p.Gln1195His)
c.3582A>C (p.Gln1194His)
c.3567A>C (p.Gln1189His)
c.3417A>C (p.Gln1139His)
c.3414A>C (p.Gln1138His)
c.3399A>C (p.Gln1133His)
c.3294A>C (p.Gln1098His)
c.3291A>C (p.Gln1097His)
c.3258A>C (p.Gln1086His)
c.3108A>C (p.Gln1036His)
c.2592A>C (p.Gln864His)
n.3722A>C
c.3531A>C (p.Gln1177His)
c.3363A>C (p.Gln1121His)
c.3090A>C (p.Gln1030His)
c.2940A>C (p.Gln980His)
 COSMIC
2g.208326360A>GCA2080060PIKFYVEc.3549A>G (p.Gln1183=)
c.3381A>G (p.Gln1127=)
c.3585A>G (p.Gln1195=)
c.3582A>G (p.Gln1194=)
c.3567A>G (p.Gln1189=)
c.3417A>G (p.Gln1139=)
c.3414A>G (p.Gln1138=)
c.3399A>G (p.Gln1133=)
c.3294A>G (p.Gln1098=)
c.3291A>G (p.Gln1097=)
c.3258A>G (p.Gln1086=)
c.3108A>G (p.Gln1036=)
c.2592A>G (p.Gln864=)
n.3722A>G
c.3531A>G (p.Gln1177=)
c.3363A>G (p.Gln1121=)
c.3090A>G (p.Gln1030=)
c.2940A>G (p.Gln980=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.208326360A>TCA350115784PIKFYVEc.3549A>T (p.Gln1183His)
c.3381A>T (p.Gln1127His)
c.3585A>T (p.Gln1195His)
c.3582A>T (p.Gln1194His)
c.3567A>T (p.Gln1189His)
c.3417A>T (p.Gln1139His)
c.3414A>T (p.Gln1138His)
c.3399A>T (p.Gln1133His)
c.3294A>T (p.Gln1098His)
c.3291A>T (p.Gln1097His)
c.3258A>T (p.Gln1086His)
c.3108A>T (p.Gln1036His)
c.2592A>T (p.Gln864His)
n.3722A>T
c.3531A>T (p.Gln1177His)
c.3363A>T (p.Gln1121His)
c.3090A>T (p.Gln1030His)
c.2940A>T (p.Gln980His)
2g.208326361T>ACA350115785PIKFYVEc.3550T>A (p.Ser1184Thr)
c.3382T>A (p.Ser1128Thr)
c.3586T>A (p.Ser1196Thr)
c.3583T>A (p.Ser1195Thr)
c.3568T>A (p.Ser1190Thr)
c.3418T>A (p.Ser1140Thr)
c.3415T>A (p.Ser1139Thr)
c.3400T>A (p.Ser1134Thr)
c.3295T>A (p.Ser1099Thr)
c.3292T>A (p.Ser1098Thr)
c.3259T>A (p.Ser1087Thr)
c.3109T>A (p.Ser1037Thr)
c.2593T>A (p.Ser865Thr)
n.3723T>A
c.3532T>A (p.Ser1178Thr)
c.3364T>A (p.Ser1122Thr)
c.3091T>A (p.Ser1031Thr)
c.2941T>A (p.Ser981Thr)
 gnomAD v4
2g.208326361T>CCA350115786PIKFYVEc.3550T>C (p.Ser1184Pro)
c.3382T>C (p.Ser1128Pro)
c.3586T>C (p.Ser1196Pro)
c.3583T>C (p.Ser1195Pro)
c.3568T>C (p.Ser1190Pro)
c.3418T>C (p.Ser1140Pro)
c.3415T>C (p.Ser1139Pro)
c.3400T>C (p.Ser1134Pro)
c.3295T>C (p.Ser1099Pro)
c.3292T>C (p.Ser1098Pro)
c.3259T>C (p.Ser1087Pro)
c.3109T>C (p.Ser1037Pro)
c.2593T>C (p.Ser865Pro)
n.3723T>C
c.3532T>C (p.Ser1178Pro)
c.3364T>C (p.Ser1122Pro)
c.3091T>C (p.Ser1031Pro)
c.2941T>C (p.Ser981Pro)
2g.208326361T>GCA350115787PIKFYVEc.3550T>G (p.Ser1184Ala)
c.3382T>G (p.Ser1128Ala)
c.3586T>G (p.Ser1196Ala)
c.3583T>G (p.Ser1195Ala)
c.3568T>G (p.Ser1190Ala)
c.3418T>G (p.Ser1140Ala)
c.3415T>G (p.Ser1139Ala)
c.3400T>G (p.Ser1134Ala)
c.3295T>G (p.Ser1099Ala)
c.3292T>G (p.Ser1098Ala)
c.3259T>G (p.Ser1087Ala)
c.3109T>G (p.Ser1037Ala)
c.2593T>G (p.Ser865Ala)
n.3723T>G
c.3532T>G (p.Ser1178Ala)
c.3364T>G (p.Ser1122Ala)
c.3091T>G (p.Ser1031Ala)
c.2941T>G (p.Ser981Ala)
2g.208326362C>ACA350115788PIKFYVEc.3551C>A (p.Ser1184Ter)
c.3383C>A (p.Ser1128Ter)
c.3587C>A (p.Ser1196Ter)
c.3584C>A (p.Ser1195Ter)
c.3569C>A (p.Ser1190Ter)
c.3419C>A (p.Ser1140Ter)
c.3416C>A (p.Ser1139Ter)
c.3401C>A (p.Ser1134Ter)
c.3296C>A (p.Ser1099Ter)
c.3293C>A (p.Ser1098Ter)
c.3260C>A (p.Ser1087Ter)
c.3110C>A (p.Ser1037Ter)
c.2594C>A (p.Ser865Ter)
n.3724C>A
c.3533C>A (p.Ser1178Ter)
c.3365C>A (p.Ser1122Ter)
c.3092C>A (p.Ser1031Ter)
c.2942C>A (p.Ser981Ter)
 gnomAD v4
2g.208326362C=CA1324023478PIKFYVEc.3551C= (p.Ser1184=)
c.3383C= (p.Ser1128=)
c.3587C= (p.Ser1196=)
c.3584C= (p.Ser1195=)
c.3569C= (p.Ser1190=)
c.3419C= (p.Ser1140=)
c.3416C= (p.Ser1139=)
c.3401C= (p.Ser1134=)
c.3296C= (p.Ser1099=)
c.3293C= (p.Ser1098=)
c.3260C= (p.Ser1087=)
c.3110C= (p.Ser1037=)
c.2594C= (p.Ser865=)
n.3724C=
c.3533C= (p.Ser1178=)
c.3365C= (p.Ser1122=)
c.3092C= (p.Ser1031=)
c.2942C= (p.Ser981=)
2g.208326362C>GCA350115789PIKFYVEc.3551C>G (p.Ser1184Ter)
c.3383C>G (p.Ser1128Ter)
c.3587C>G (p.Ser1196Ter)
c.3584C>G (p.Ser1195Ter)
c.3569C>G (p.Ser1190Ter)
c.3419C>G (p.Ser1140Ter)
c.3416C>G (p.Ser1139Ter)
c.3401C>G (p.Ser1134Ter)
c.3296C>G (p.Ser1099Ter)
c.3293C>G (p.Ser1098Ter)
c.3260C>G (p.Ser1087Ter)
c.3110C>G (p.Ser1037Ter)
c.2594C>G (p.Ser865Ter)
n.3724C>G
c.3533C>G (p.Ser1178Ter)
c.3365C>G (p.Ser1122Ter)
c.3092C>G (p.Ser1031Ter)
c.2942C>G (p.Ser981Ter)
2g.208326362C>TCA2080061PIKFYVEc.3551C>T (p.Ser1184Leu)
c.3383C>T (p.Ser1128Leu)
c.3587C>T (p.Ser1196Leu)
c.3584C>T (p.Ser1195Leu)
c.3569C>T (p.Ser1190Leu)
c.3419C>T (p.Ser1140Leu)
c.3416C>T (p.Ser1139Leu)
c.3401C>T (p.Ser1134Leu)
c.3296C>T (p.Ser1099Leu)
c.3293C>T (p.Ser1098Leu)
c.3260C>T (p.Ser1087Leu)
c.3110C>T (p.Ser1037Leu)
c.2594C>T (p.Ser865Leu)
n.3724C>T
c.3533C>T (p.Ser1178Leu)
c.3365C>T (p.Ser1122Leu)
c.3092C>T (p.Ser1031Leu)
c.2942C>T (p.Ser981Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.208326363A=CA1324023479PIKFYVEc.3552A= (p.Ser1184=)
c.3384A= (p.Ser1128=)
c.3588A= (p.Ser1196=)
c.3585A= (p.Ser1195=)
c.3570A= (p.Ser1190=)
c.3420A= (p.Ser1140=)
c.3417A= (p.Ser1139=)
c.3402A= (p.Ser1134=)
c.3297A= (p.Ser1099=)
c.3294A= (p.Ser1098=)
c.3261A= (p.Ser1087=)
c.3111A= (p.Ser1037=)
c.2595A= (p.Ser865=)
n.3725A=
c.3534A= (p.Ser1178=)
c.3366A= (p.Ser1122=)
c.3093A= (p.Ser1031=)
c.2943A= (p.Ser981=)
2g.208326363A>CCA431117104PIKFYVEc.3552A>C (p.Ser1184=)
c.3384A>C (p.Ser1128=)
c.3588A>C (p.Ser1196=)
c.3585A>C (p.Ser1195=)
c.3570A>C (p.Ser1190=)
c.3420A>C (p.Ser1140=)
c.3417A>C (p.Ser1139=)
c.3402A>C (p.Ser1134=)
c.3297A>C (p.Ser1099=)
c.3294A>C (p.Ser1098=)
c.3261A>C (p.Ser1087=)
c.3111A>C (p.Ser1037=)
c.2595A>C (p.Ser865=)
n.3725A>C
c.3534A>C (p.Ser1178=)
c.3366A>C (p.Ser1122=)
c.3093A>C (p.Ser1031=)
c.2943A>C (p.Ser981=)
2g.208326363A>GCA431117103PIKFYVEc.3552A>G (p.Ser1184=)
c.3384A>G (p.Ser1128=)
c.3588A>G (p.Ser1196=)
c.3585A>G (p.Ser1195=)
c.3570A>G (p.Ser1190=)
c.3420A>G (p.Ser1140=)
c.3417A>G (p.Ser1139=)
c.3402A>G (p.Ser1134=)
c.3297A>G (p.Ser1099=)
c.3294A>G (p.Ser1098=)
c.3261A>G (p.Ser1087=)
c.3111A>G (p.Ser1037=)
c.2595A>G (p.Ser865=)
n.3725A>G
c.3534A>G (p.Ser1178=)
c.3366A>G (p.Ser1122=)
c.3093A>G (p.Ser1031=)
c.2943A>G (p.Ser981=)
 dbSNP gnomAD v2 gnomAD v4
2g.208326363A>TCA431117102PIKFYVEc.3552A>T (p.Ser1184=)
c.3384A>T (p.Ser1128=)
c.3588A>T (p.Ser1196=)
c.3585A>T (p.Ser1195=)
c.3570A>T (p.Ser1190=)
c.3420A>T (p.Ser1140=)
c.3417A>T (p.Ser1139=)
c.3402A>T (p.Ser1134=)
c.3297A>T (p.Ser1099=)
c.3294A>T (p.Ser1098=)
c.3261A>T (p.Ser1087=)
c.3111A>T (p.Ser1037=)
c.2595A>T (p.Ser865=)
n.3725A>T
c.3534A>T (p.Ser1178=)
c.3366A>T (p.Ser1122=)
c.3093A>T (p.Ser1031=)
c.2943A>T (p.Ser981=)
2g.208326364G>ACA350115790PIKFYVEc.3553G>A (p.Gly1185Arg)
c.3385G>A (p.Gly1129Arg)
c.3589G>A (p.Gly1197Arg)
c.3586G>A (p.Gly1196Arg)
c.3571G>A (p.Gly1191Arg)
c.3421G>A (p.Gly1141Arg)
c.3418G>A (p.Gly1140Arg)
c.3403G>A (p.Gly1135Arg)
c.3298G>A (p.Gly1100Arg)
c.3295G>A (p.Gly1099Arg)
c.3262G>A (p.Gly1088Arg)
c.3112G>A (p.Gly1038Arg)
c.2596G>A (p.Gly866Arg)
n.3726G>A
c.3535G>A (p.Gly1179Arg)
c.3367G>A (p.Gly1123Arg)
c.3094G>A (p.Gly1032Arg)
c.2944G>A (p.Gly982Arg)
 gnomAD v4
2g.208326364G>CCA350115791PIKFYVEc.3553G>C (p.Gly1185Arg)
c.3385G>C (p.Gly1129Arg)
c.3589G>C (p.Gly1197Arg)
c.3586G>C (p.Gly1196Arg)
c.3571G>C (p.Gly1191Arg)
c.3421G>C (p.Gly1141Arg)
c.3418G>C (p.Gly1140Arg)
c.3403G>C (p.Gly1135Arg)
c.3298G>C (p.Gly1100Arg)
c.3295G>C (p.Gly1099Arg)
c.3262G>C (p.Gly1088Arg)
c.3112G>C (p.Gly1038Arg)
c.2596G>C (p.Gly866Arg)
n.3726G>C
c.3535G>C (p.Gly1179Arg)
c.3367G>C (p.Gly1123Arg)
c.3094G>C (p.Gly1032Arg)
c.2944G>C (p.Gly982Arg)
2g.208326364G>TCA350115792PIKFYVEc.3553G>T (p.Gly1185Ter)
c.3385G>T (p.Gly1129Ter)
c.3589G>T (p.Gly1197Ter)
c.3586G>T (p.Gly1196Ter)
c.3571G>T (p.Gly1191Ter)
c.3421G>T (p.Gly1141Ter)
c.3418G>T (p.Gly1140Ter)
c.3403G>T (p.Gly1135Ter)
c.3298G>T (p.Gly1100Ter)
c.3295G>T (p.Gly1099Ter)
c.3262G>T (p.Gly1088Ter)
c.3112G>T (p.Gly1038Ter)
c.2596G>T (p.Gly866Ter)
n.3726G>T
c.3535G>T (p.Gly1179Ter)
c.3367G>T (p.Gly1123Ter)
c.3094G>T (p.Gly1032Ter)
c.2944G>T (p.Gly982Ter)
 COSMIC
2g.208326365G>ACA350115793PIKFYVEc.3554G>A (p.Gly1185Glu)
c.3386G>A (p.Gly1129Glu)
c.3590G>A (p.Gly1197Glu)
c.3587G>A (p.Gly1196Glu)
c.3572G>A (p.Gly1191Glu)
c.3422G>A (p.Gly1141Glu)
c.3419G>A (p.Gly1140Glu)
c.3404G>A (p.Gly1135Glu)
c.3299G>A (p.Gly1100Glu)
c.3296G>A (p.Gly1099Glu)
c.3263G>A (p.Gly1088Glu)
c.3113G>A (p.Gly1038Glu)
c.2597G>A (p.Gly866Glu)
n.3727G>A
c.3536G>A (p.Gly1179Glu)
c.3368G>A (p.Gly1123Glu)
c.3095G>A (p.Gly1032Glu)
c.2945G>A (p.Gly982Glu)
 gnomAD v3 gnomAD v4
2g.208326365G>CCA350115794PIKFYVEc.3554G>C (p.Gly1185Ala)
c.3386G>C (p.Gly1129Ala)
c.3590G>C (p.Gly1197Ala)
c.3587G>C (p.Gly1196Ala)
c.3572G>C (p.Gly1191Ala)
c.3422G>C (p.Gly1141Ala)
c.3419G>C (p.Gly1140Ala)
c.3404G>C (p.Gly1135Ala)
c.3299G>C (p.Gly1100Ala)
c.3296G>C (p.Gly1099Ala)
c.3263G>C (p.Gly1088Ala)
c.3113G>C (p.Gly1038Ala)
c.2597G>C (p.Gly866Ala)
n.3727G>C
c.3536G>C (p.Gly1179Ala)
c.3368G>C (p.Gly1123Ala)
c.3095G>C (p.Gly1032Ala)
c.2945G>C (p.Gly982Ala)
2g.208326365G>TCA350115795PIKFYVEc.3554G>T (p.Gly1185Val)
c.3386G>T (p.Gly1129Val)
c.3590G>T (p.Gly1197Val)
c.3587G>T (p.Gly1196Val)
c.3572G>T (p.Gly1191Val)
c.3422G>T (p.Gly1141Val)
c.3419G>T (p.Gly1140Val)
c.3404G>T (p.Gly1135Val)
c.3299G>T (p.Gly1100Val)
c.3296G>T (p.Gly1099Val)
c.3263G>T (p.Gly1088Val)
c.3113G>T (p.Gly1038Val)
c.2597G>T (p.Gly866Val)
n.3727G>T
c.3536G>T (p.Gly1179Val)
c.3368G>T (p.Gly1123Val)
c.3095G>T (p.Gly1032Val)
c.2945G>T (p.Gly982Val)
2g.208326366A=CA1324023480PIKFYVEc.3555A= (p.Gly1185=)
c.3387A= (p.Gly1129=)
c.3591A= (p.Gly1197=)
c.3588A= (p.Gly1196=)
c.3573A= (p.Gly1191=)
c.3423A= (p.Gly1141=)
c.3420A= (p.Gly1140=)
c.3405A= (p.Gly1135=)
c.3300A= (p.Gly1100=)
c.3297A= (p.Gly1099=)
c.3264A= (p.Gly1088=)
c.3114A= (p.Gly1038=)
c.2598A= (p.Gly866=)
n.3728A=
c.3537A= (p.Gly1179=)
c.3369A= (p.Gly1123=)
c.3096A= (p.Gly1032=)
c.2946A= (p.Gly982=)
2g.208326366A>CCA431117105PIKFYVEc.3555A>C (p.Gly1185=)
c.3387A>C (p.Gly1129=)
c.3591A>C (p.Gly1197=)
c.3588A>C (p.Gly1196=)
c.3573A>C (p.Gly1191=)
c.3423A>C (p.Gly1141=)
c.3420A>C (p.Gly1140=)
c.3405A>C (p.Gly1135=)
c.3300A>C (p.Gly1100=)
c.3297A>C (p.Gly1099=)
c.3264A>C (p.Gly1088=)
c.3114A>C (p.Gly1038=)
c.2598A>C (p.Gly866=)
n.3728A>C
c.3537A>C (p.Gly1179=)
c.3369A>C (p.Gly1123=)
c.3096A>C (p.Gly1032=)
c.2946A>C (p.Gly982=)
2g.208326366A>GCA431117106PIKFYVEc.3555A>G (p.Gly1185=)
c.3387A>G (p.Gly1129=)
c.3591A>G (p.Gly1197=)
c.3588A>G (p.Gly1196=)
c.3573A>G (p.Gly1191=)
c.3423A>G (p.Gly1141=)
c.3420A>G (p.Gly1140=)
c.3405A>G (p.Gly1135=)
c.3300A>G (p.Gly1100=)
c.3297A>G (p.Gly1099=)
c.3264A>G (p.Gly1088=)
c.3114A>G (p.Gly1038=)
c.2598A>G (p.Gly866=)
n.3728A>G
c.3537A>G (p.Gly1179=)
c.3369A>G (p.Gly1123=)
c.3096A>G (p.Gly1032=)
c.2946A>G (p.Gly982=)
 dbSNP gnomAD v2 gnomAD v4
2g.208326366A>TCA431117107PIKFYVEc.3555A>T (p.Gly1185=)
c.3387A>T (p.Gly1129=)
c.3591A>T (p.Gly1197=)
c.3588A>T (p.Gly1196=)
c.3573A>T (p.Gly1191=)
c.3423A>T (p.Gly1141=)
c.3420A>T (p.Gly1140=)
c.3405A>T (p.Gly1135=)
c.3300A>T (p.Gly1100=)
c.3297A>T (p.Gly1099=)
c.3264A>T (p.Gly1088=)
c.3114A>T (p.Gly1038=)
c.2598A>T (p.Gly866=)
n.3728A>T
c.3537A>T (p.Gly1179=)
c.3369A>T (p.Gly1123=)
c.3096A>T (p.Gly1032=)
c.2946A>T (p.Gly982=)
2g.208326367delCA431117108PIKFYVEc.3556del (p.Ser1186AlafsTer13)
c.3388del (p.Ser1130AlafsTer13)
c.3592del (p.Ser1198AlafsTer13)
c.3589del (p.Ser1197AlafsTer13)
c.3574del (p.Ser1192AlafsTer13)
c.3424del (p.Ser1142AlafsTer13)
c.3421del (p.Ser1141AlafsTer13)
c.3406del (p.Ser1136AlafsTer13)
c.3301del (p.Ser1101AlafsTer13)
c.3298del (p.Ser1100AlafsTer13)
c.3265del (p.Ser1089AlafsTer13)
c.3115del (p.Ser1039AlafsTer13)
c.2599del (p.Ser867AlafsTer13)
n.3729del
c.3538del (p.Ser1180AlafsTer13)
c.3370del (p.Ser1124AlafsTer13)
c.3097del (p.Ser1033AlafsTer13)
c.2947del (p.Ser983AlafsTer13)
 COSMIC
2g.208326367A>CCA350115798PIKFYVEc.3556A>C (p.Ser1186Arg)
c.3388A>C (p.Ser1130Arg)
c.3592A>C (p.Ser1198Arg)
c.3589A>C (p.Ser1197Arg)
c.3574A>C (p.Ser1192Arg)
c.3424A>C (p.Ser1142Arg)
c.3421A>C (p.Ser1141Arg)
c.3406A>C (p.Ser1136Arg)
c.3301A>C (p.Ser1101Arg)
c.3298A>C (p.Ser1100Arg)
c.3265A>C (p.Ser1089Arg)
c.3115A>C (p.Ser1039Arg)
c.2599A>C (p.Ser867Arg)
n.3729A>C
c.3538A>C (p.Ser1180Arg)
c.3370A>C (p.Ser1124Arg)
c.3097A>C (p.Ser1033Arg)
c.2947A>C (p.Ser983Arg)
2g.208326367A>GCA350115797PIKFYVEc.3556A>G (p.Ser1186Gly)
c.3388A>G (p.Ser1130Gly)
c.3592A>G (p.Ser1198Gly)
c.3589A>G (p.Ser1197Gly)
c.3574A>G (p.Ser1192Gly)
c.3424A>G (p.Ser1142Gly)
c.3421A>G (p.Ser1141Gly)
c.3406A>G (p.Ser1136Gly)
c.3301A>G (p.Ser1101Gly)
c.3298A>G (p.Ser1100Gly)
c.3265A>G (p.Ser1089Gly)
c.3115A>G (p.Ser1039Gly)
c.2599A>G (p.Ser867Gly)
n.3729A>G
c.3538A>G (p.Ser1180Gly)
c.3370A>G (p.Ser1124Gly)
c.3097A>G (p.Ser1033Gly)
c.2947A>G (p.Ser983Gly)
2g.208326367A>TCA350115796PIKFYVEc.3556A>T (p.Ser1186Cys)
c.3388A>T (p.Ser1130Cys)
c.3592A>T (p.Ser1198Cys)
c.3589A>T (p.Ser1197Cys)
c.3574A>T (p.Ser1192Cys)
c.3424A>T (p.Ser1142Cys)
c.3421A>T (p.Ser1141Cys)
c.3406A>T (p.Ser1136Cys)
c.3301A>T (p.Ser1101Cys)
c.3298A>T (p.Ser1100Cys)
c.3265A>T (p.Ser1089Cys)
c.3115A>T (p.Ser1039Cys)
c.2599A>T (p.Ser867Cys)
n.3729A>T
c.3538A>T (p.Ser1180Cys)
c.3370A>T (p.Ser1124Cys)
c.3097A>T (p.Ser1033Cys)
c.2947A>T (p.Ser983Cys)
2g.208326368G>ACA350115799PIKFYVEc.3557G>A (p.Ser1186Asn)
c.3389G>A (p.Ser1130Asn)
c.3593G>A (p.Ser1198Asn)
c.3590G>A (p.Ser1197Asn)
c.3575G>A (p.Ser1192Asn)
c.3425G>A (p.Ser1142Asn)
c.3422G>A (p.Ser1141Asn)
c.3407G>A (p.Ser1136Asn)
c.3302G>A (p.Ser1101Asn)
c.3299G>A (p.Ser1100Asn)
c.3266G>A (p.Ser1089Asn)
c.3116G>A (p.Ser1039Asn)
c.2600G>A (p.Ser867Asn)
n.3730G>A
c.3539G>A (p.Ser1180Asn)
c.3371G>A (p.Ser1124Asn)
c.3098G>A (p.Ser1033Asn)
c.2948G>A (p.Ser983Asn)
 gnomAD v4
2g.208326368G>CCA350115800PIKFYVEc.3557G>C (p.Ser1186Thr)
c.3389G>C (p.Ser1130Thr)
c.3593G>C (p.Ser1198Thr)
c.3590G>C (p.Ser1197Thr)
c.3575G>C (p.Ser1192Thr)
c.3425G>C (p.Ser1142Thr)
c.3422G>C (p.Ser1141Thr)
c.3407G>C (p.Ser1136Thr)
c.3302G>C (p.Ser1101Thr)
c.3299G>C (p.Ser1100Thr)
c.3266G>C (p.Ser1089Thr)
c.3116G>C (p.Ser1039Thr)
c.2600G>C (p.Ser867Thr)
n.3730G>C
c.3539G>C (p.Ser1180Thr)
c.3371G>C (p.Ser1124Thr)
c.3098G>C (p.Ser1033Thr)
c.2948G>C (p.Ser983Thr)
2g.208326368G>TCA350115801PIKFYVEc.3557G>T (p.Ser1186Ile)
c.3389G>T (p.Ser1130Ile)
c.3593G>T (p.Ser1198Ile)
c.3590G>T (p.Ser1197Ile)
c.3575G>T (p.Ser1192Ile)
c.3425G>T (p.Ser1142Ile)
c.3422G>T (p.Ser1141Ile)
c.3407G>T (p.Ser1136Ile)
c.3302G>T (p.Ser1101Ile)
c.3299G>T (p.Ser1100Ile)
c.3266G>T (p.Ser1089Ile)
c.3116G>T (p.Ser1039Ile)
c.2600G>T (p.Ser867Ile)
n.3730G>T
c.3539G>T (p.Ser1180Ile)
c.3371G>T (p.Ser1124Ile)
c.3098G>T (p.Ser1033Ile)
c.2948G>T (p.Ser983Ile)
2g.208326369C>ACA350115802PIKFYVEc.3558C>A (p.Ser1186Arg)
c.3390C>A (p.Ser1130Arg)
c.3594C>A (p.Ser1198Arg)
c.3591C>A (p.Ser1197Arg)
c.3576C>A (p.Ser1192Arg)
c.3426C>A (p.Ser1142Arg)
c.3423C>A (p.Ser1141Arg)
c.3408C>A (p.Ser1136Arg)
c.3303C>A (p.Ser1101Arg)
c.3300C>A (p.Ser1100Arg)
c.3267C>A (p.Ser1089Arg)
c.3117C>A (p.Ser1039Arg)
c.2601C>A (p.Ser867Arg)
n.3731C>A
c.3540C>A (p.Ser1180Arg)
c.3372C>A (p.Ser1124Arg)
c.3099C>A (p.Ser1033Arg)
c.2949C>A (p.Ser983Arg)
 gnomAD v4
2g.208326369C>GCA350115803PIKFYVEc.3558C>G (p.Ser1186Arg)
c.3390C>G (p.Ser1130Arg)
c.3594C>G (p.Ser1198Arg)
c.3591C>G (p.Ser1197Arg)
c.3576C>G (p.Ser1192Arg)
c.3426C>G (p.Ser1142Arg)
c.3423C>G (p.Ser1141Arg)
c.3408C>G (p.Ser1136Arg)
c.3303C>G (p.Ser1101Arg)
c.3300C>G (p.Ser1100Arg)
c.3267C>G (p.Ser1089Arg)
c.3117C>G (p.Ser1039Arg)
c.2601C>G (p.Ser867Arg)
n.3731C>G
c.3540C>G (p.Ser1180Arg)
c.3372C>G (p.Ser1124Arg)
c.3099C>G (p.Ser1033Arg)
c.2949C>G (p.Ser983Arg)
2g.208326369C>TCA431117109PIKFYVEc.3558C>T (p.Ser1186=)
c.3390C>T (p.Ser1130=)
c.3594C>T (p.Ser1198=)
c.3591C>T (p.Ser1197=)
c.3576C>T (p.Ser1192=)
c.3426C>T (p.Ser1142=)
c.3423C>T (p.Ser1141=)
c.3408C>T (p.Ser1136=)
c.3303C>T (p.Ser1101=)
c.3300C>T (p.Ser1100=)
c.3267C>T (p.Ser1089=)
c.3117C>T (p.Ser1039=)
c.2601C>T (p.Ser867=)
n.3731C>T
c.3540C>T (p.Ser1180=)
c.3372C>T (p.Ser1124=)
c.3099C>T (p.Ser1033=)
c.2949C>T (p.Ser983=)
2g.208326370A>CCA350115804PIKFYVEc.3559A>C (p.Lys1187Gln)
c.3391A>C (p.Lys1131Gln)
c.3595A>C (p.Lys1199Gln)
c.3592A>C (p.Lys1198Gln)
c.3577A>C (p.Lys1193Gln)
c.3427A>C (p.Lys1143Gln)
c.3424A>C (p.Lys1142Gln)
c.3409A>C (p.Lys1137Gln)
c.3304A>C (p.Lys1102Gln)
c.3301A>C (p.Lys1101Gln)
c.3268A>C (p.Lys1090Gln)
c.3118A>C (p.Lys1040Gln)
c.2602A>C (p.Lys868Gln)
n.3732A>C
c.3541A>C (p.Lys1181Gln)
c.3373A>C (p.Lys1125Gln)
c.3100A>C (p.Lys1034Gln)
c.2950A>C (p.Lys984Gln)
2g.208326370A>GCA350115805PIKFYVEc.3559A>G (p.Lys1187Glu)
c.3391A>G (p.Lys1131Glu)
c.3595A>G (p.Lys1199Glu)
c.3592A>G (p.Lys1198Glu)
c.3577A>G (p.Lys1193Glu)
c.3427A>G (p.Lys1143Glu)
c.3424A>G (p.Lys1142Glu)
c.3409A>G (p.Lys1137Glu)
c.3304A>G (p.Lys1102Glu)
c.3301A>G (p.Lys1101Glu)
c.3268A>G (p.Lys1090Glu)
c.3118A>G (p.Lys1040Glu)
c.2602A>G (p.Lys868Glu)
n.3732A>G
c.3541A>G (p.Lys1181Glu)
c.3373A>G (p.Lys1125Glu)
c.3100A>G (p.Lys1034Glu)
c.2950A>G (p.Lys984Glu)
2g.208326370A>TCA350115806PIKFYVEc.3559A>T (p.Lys1187Ter)
c.3391A>T (p.Lys1131Ter)
c.3595A>T (p.Lys1199Ter)
c.3592A>T (p.Lys1198Ter)
c.3577A>T (p.Lys1193Ter)
c.3427A>T (p.Lys1143Ter)
c.3424A>T (p.Lys1142Ter)
c.3409A>T (p.Lys1137Ter)
c.3304A>T (p.Lys1102Ter)
c.3301A>T (p.Lys1101Ter)
c.3268A>T (p.Lys1090Ter)
c.3118A>T (p.Lys1040Ter)
c.2602A>T (p.Lys868Ter)
n.3732A>T
c.3541A>T (p.Lys1181Ter)
c.3373A>T (p.Lys1125Ter)
c.3100A>T (p.Lys1034Ter)
c.2950A>T (p.Lys984Ter)
2g.208326374dupCA2754053495PIKFYVEc.3563dup (p.Asn1188LysfsTer2)
c.3395dup (p.Asn1132LysfsTer2)
c.3599dup (p.Asn1200LysfsTer2)
c.3596dup (p.Asn1199LysfsTer2)
c.3581dup (p.Asn1194LysfsTer2)
c.3431dup (p.Asn1144LysfsTer2)
c.3428dup (p.Asn1143LysfsTer2)
c.3413dup (p.Asn1138LysfsTer2)
c.3308dup (p.Asn1103LysfsTer2)
c.3305dup (p.Asn1102LysfsTer2)
c.3272dup (p.Asn1091LysfsTer2)
c.3122dup (p.Asn1041LysfsTer2)
c.2606dup (p.Asn869LysfsTer2)
n.3736dup
c.3545dup (p.Asn1182LysfsTer2)
c.3377dup (p.Asn1126LysfsTer2)
c.3104dup (p.Asn1035LysfsTer2)
c.2954dup (p.Asn985LysfsTer2)
2g.208326371A=CA1324023481PIKFYVEc.3560A= (p.Lys1187=)
c.3392A= (p.Lys1131=)
c.3596A= (p.Lys1199=)
c.3593A= (p.Lys1198=)
c.3578A= (p.Lys1193=)
c.3428A= (p.Lys1143=)
c.3425A= (p.Lys1142=)
c.3410A= (p.Lys1137=)
c.3305A= (p.Lys1102=)
c.3302A= (p.Lys1101=)
c.3269A= (p.Lys1090=)
c.3119A= (p.Lys1040=)
c.2603A= (p.Lys868=)
n.3733A=
c.3542A= (p.Lys1181=)
c.3374A= (p.Lys1125=)
c.3101A= (p.Lys1034=)
c.2951A= (p.Lys984=)
2g.208326371A>CCA350115807PIKFYVEc.3560A>C (p.Lys1187Thr)
c.3392A>C (p.Lys1131Thr)
c.3596A>C (p.Lys1199Thr)
c.3593A>C (p.Lys1198Thr)
c.3578A>C (p.Lys1193Thr)
c.3428A>C (p.Lys1143Thr)
c.3425A>C (p.Lys1142Thr)
c.3410A>C (p.Lys1137Thr)
c.3305A>C (p.Lys1102Thr)
c.3302A>C (p.Lys1101Thr)
c.3269A>C (p.Lys1090Thr)
c.3119A>C (p.Lys1040Thr)
c.2603A>C (p.Lys868Thr)
n.3733A>C
c.3542A>C (p.Lys1181Thr)
c.3374A>C (p.Lys1125Thr)
c.3101A>C (p.Lys1034Thr)
c.2951A>C (p.Lys984Thr)
2g.208326371A>GCA350115808PIKFYVEc.3560A>G (p.Lys1187Arg)
c.3392A>G (p.Lys1131Arg)
c.3596A>G (p.Lys1199Arg)
c.3593A>G (p.Lys1198Arg)
c.3578A>G (p.Lys1193Arg)
c.3428A>G (p.Lys1143Arg)
c.3425A>G (p.Lys1142Arg)
c.3410A>G (p.Lys1137Arg)
c.3305A>G (p.Lys1102Arg)
c.3302A>G (p.Lys1101Arg)
c.3269A>G (p.Lys1090Arg)
c.3119A>G (p.Lys1040Arg)
c.2603A>G (p.Lys868Arg)
n.3733A>G
c.3542A>G (p.Lys1181Arg)
c.3374A>G (p.Lys1125Arg)
c.3101A>G (p.Lys1034Arg)
c.2951A>G (p.Lys984Arg)
 dbSNP gnomAD v4
2g.208326371A>TCA350115809PIKFYVEc.3560A>T (p.Lys1187Ile)
c.3392A>T (p.Lys1131Ile)
c.3596A>T (p.Lys1199Ile)
c.3593A>T (p.Lys1198Ile)
c.3578A>T (p.Lys1193Ile)
c.3428A>T (p.Lys1143Ile)
c.3425A>T (p.Lys1142Ile)
c.3410A>T (p.Lys1137Ile)
c.3305A>T (p.Lys1102Ile)
c.3302A>T (p.Lys1101Ile)
c.3269A>T (p.Lys1090Ile)
c.3119A>T (p.Lys1040Ile)
c.2603A>T (p.Lys868Ile)
n.3733A>T
c.3542A>T (p.Lys1181Ile)
c.3374A>T (p.Lys1125Ile)
c.3101A>T (p.Lys1034Ile)
c.2951A>T (p.Lys984Ile)
2g.208326372A>CCA350115810PIKFYVEc.3561A>C (p.Lys1187Asn)
c.3393A>C (p.Lys1131Asn)
c.3597A>C (p.Lys1199Asn)
c.3594A>C (p.Lys1198Asn)
c.3579A>C (p.Lys1193Asn)
c.3429A>C (p.Lys1143Asn)
c.3426A>C (p.Lys1142Asn)
c.3411A>C (p.Lys1137Asn)
c.3306A>C (p.Lys1102Asn)
c.3303A>C (p.Lys1101Asn)
c.3270A>C (p.Lys1090Asn)
c.3120A>C (p.Lys1040Asn)
c.2604A>C (p.Lys868Asn)
n.3734A>C
c.3543A>C (p.Lys1181Asn)
c.3375A>C (p.Lys1125Asn)
c.3102A>C (p.Lys1034Asn)
c.2952A>C (p.Lys984Asn)
2g.208326372A>GCA431117110PIKFYVEc.3561A>G (p.Lys1187=)
c.3393A>G (p.Lys1131=)
c.3597A>G (p.Lys1199=)
c.3594A>G (p.Lys1198=)
c.3579A>G (p.Lys1193=)
c.3429A>G (p.Lys1143=)
c.3426A>G (p.Lys1142=)
c.3411A>G (p.Lys1137=)
c.3306A>G (p.Lys1102=)
c.3303A>G (p.Lys1101=)
c.3270A>G (p.Lys1090=)
c.3120A>G (p.Lys1040=)
c.2604A>G (p.Lys868=)
n.3734A>G
c.3543A>G (p.Lys1181=)
c.3375A>G (p.Lys1125=)
c.3102A>G (p.Lys1034=)
c.2952A>G (p.Lys984=)
2g.208326372A>TCA350115811PIKFYVEc.3561A>T (p.Lys1187Asn)
c.3393A>T (p.Lys1131Asn)
c.3597A>T (p.Lys1199Asn)
c.3594A>T (p.Lys1198Asn)
c.3579A>T (p.Lys1193Asn)
c.3429A>T (p.Lys1143Asn)
c.3426A>T (p.Lys1142Asn)
c.3411A>T (p.Lys1137Asn)
c.3306A>T (p.Lys1102Asn)
c.3303A>T (p.Lys1101Asn)
c.3270A>T (p.Lys1090Asn)
c.3120A>T (p.Lys1040Asn)
c.2604A>T (p.Lys868Asn)
n.3734A>T
c.3543A>T (p.Lys1181Asn)
c.3375A>T (p.Lys1125Asn)
c.3102A>T (p.Lys1034Asn)
c.2952A>T (p.Lys984Asn)
2g.208326373A>CCA350115813PIKFYVEc.3562A>C (p.Asn1188His)
c.3394A>C (p.Asn1132His)
c.3598A>C (p.Asn1200His)
c.3595A>C (p.Asn1199His)
c.3580A>C (p.Asn1194His)
c.3430A>C (p.Asn1144His)
c.3427A>C (p.Asn1143His)
c.3412A>C (p.Asn1138His)
c.3307A>C (p.Asn1103His)
c.3304A>C (p.Asn1102His)
c.3271A>C (p.Asn1091His)
c.3121A>C (p.Asn1041His)
c.2605A>C (p.Asn869His)
n.3735A>C
c.3544A>C (p.Asn1182His)
c.3376A>C (p.Asn1126His)
c.3103A>C (p.Asn1035His)
c.2953A>C (p.Asn985His)
 gnomAD v4
2g.208326373A>GCA350115814PIKFYVEc.3562A>G (p.Asn1188Asp)
c.3394A>G (p.Asn1132Asp)
c.3598A>G (p.Asn1200Asp)
c.3595A>G (p.Asn1199Asp)
c.3580A>G (p.Asn1194Asp)
c.3430A>G (p.Asn1144Asp)
c.3427A>G (p.Asn1143Asp)
c.3412A>G (p.Asn1138Asp)
c.3307A>G (p.Asn1103Asp)
c.3304A>G (p.Asn1102Asp)
c.3271A>G (p.Asn1091Asp)
c.3121A>G (p.Asn1041Asp)
c.2605A>G (p.Asn869Asp)
n.3735A>G
c.3544A>G (p.Asn1182Asp)
c.3376A>G (p.Asn1126Asp)
c.3103A>G (p.Asn1035Asp)
c.2953A>G (p.Asn985Asp)
2g.208326373A>TCA350115812PIKFYVEc.3562A>T (p.Asn1188Tyr)
c.3394A>T (p.Asn1132Tyr)
c.3598A>T (p.Asn1200Tyr)
c.3595A>T (p.Asn1199Tyr)
c.3580A>T (p.Asn1194Tyr)
c.3430A>T (p.Asn1144Tyr)
c.3427A>T (p.Asn1143Tyr)
c.3412A>T (p.Asn1138Tyr)
c.3307A>T (p.Asn1103Tyr)
c.3304A>T (p.Asn1102Tyr)
c.3271A>T (p.Asn1091Tyr)
c.3121A>T (p.Asn1041Tyr)
c.2605A>T (p.Asn869Tyr)
n.3735A>T
c.3544A>T (p.Asn1182Tyr)
c.3376A>T (p.Asn1126Tyr)
c.3103A>T (p.Asn1035Tyr)
c.2953A>T (p.Asn985Tyr)
2g.208326374A=CA1324023482PIKFYVEc.3563A= (p.Asn1188=)
c.3395A= (p.Asn1132=)
c.3599A= (p.Asn1200=)
c.3596A= (p.Asn1199=)
c.3581A= (p.Asn1194=)
c.3431A= (p.Asn1144=)
c.3428A= (p.Asn1143=)
c.3413A= (p.Asn1138=)
c.3308A= (p.Asn1103=)
c.3305A= (p.Asn1102=)
c.3272A= (p.Asn1091=)
c.3122A= (p.Asn1041=)
c.2606A= (p.Asn869=)
n.3736A=
c.3545A= (p.Asn1182=)
c.3377A= (p.Asn1126=)
c.3104A= (p.Asn1035=)
c.2954A= (p.Asn985=)
2g.208326374A>CCA350115815PIKFYVEc.3563A>C (p.Asn1188Thr)
c.3395A>C (p.Asn1132Thr)
c.3599A>C (p.Asn1200Thr)
c.3596A>C (p.Asn1199Thr)
c.3581A>C (p.Asn1194Thr)
c.3431A>C (p.Asn1144Thr)
c.3428A>C (p.Asn1143Thr)
c.3413A>C (p.Asn1138Thr)
c.3308A>C (p.Asn1103Thr)
c.3305A>C (p.Asn1102Thr)
c.3272A>C (p.Asn1091Thr)
c.3122A>C (p.Asn1041Thr)
c.2606A>C (p.Asn869Thr)
n.3736A>C
c.3545A>C (p.Asn1182Thr)
c.3377A>C (p.Asn1126Thr)
c.3104A>C (p.Asn1035Thr)
c.2954A>C (p.Asn985Thr)
 dbSNP gnomAD v2 gnomAD v4
2g.208326374A>GCA350115816PIKFYVEc.3563A>G (p.Asn1188Ser)
c.3395A>G (p.Asn1132Ser)
c.3599A>G (p.Asn1200Ser)
c.3596A>G (p.Asn1199Ser)
c.3581A>G (p.Asn1194Ser)
c.3431A>G (p.Asn1144Ser)
c.3428A>G (p.Asn1143Ser)
c.3413A>G (p.Asn1138Ser)
c.3308A>G (p.Asn1103Ser)
c.3305A>G (p.Asn1102Ser)
c.3272A>G (p.Asn1091Ser)
c.3122A>G (p.Asn1041Ser)
c.2606A>G (p.Asn869Ser)
n.3736A>G
c.3545A>G (p.Asn1182Ser)
c.3377A>G (p.Asn1126Ser)
c.3104A>G (p.Asn1035Ser)
c.2954A>G (p.Asn985Ser)
 gnomAD v4
2g.208326374A>TCA350115817PIKFYVEc.3563A>T (p.Asn1188Ile)
c.3395A>T (p.Asn1132Ile)
c.3599A>T (p.Asn1200Ile)
c.3596A>T (p.Asn1199Ile)
c.3581A>T (p.Asn1194Ile)
c.3431A>T (p.Asn1144Ile)
c.3428A>T (p.Asn1143Ile)
c.3413A>T (p.Asn1138Ile)
c.3308A>T (p.Asn1103Ile)
c.3305A>T (p.Asn1102Ile)
c.3272A>T (p.Asn1091Ile)
c.3122A>T (p.Asn1041Ile)
c.2606A>T (p.Asn869Ile)
n.3736A>T
c.3545A>T (p.Asn1182Ile)
c.3377A>T (p.Asn1126Ile)
c.3104A>T (p.Asn1035Ile)
c.2954A>T (p.Asn985Ile)
2g.208326375T>ACA350115818PIKFYVEc.3564T>A (p.Asn1188Lys)
c.3396T>A (p.Asn1132Lys)
c.3600T>A (p.Asn1200Lys)
c.3597T>A (p.Asn1199Lys)
c.3582T>A (p.Asn1194Lys)
c.3432T>A (p.Asn1144Lys)
c.3429T>A (p.Asn1143Lys)
c.3414T>A (p.Asn1138Lys)
c.3309T>A (p.Asn1103Lys)
c.3306T>A (p.Asn1102Lys)
c.3273T>A (p.Asn1091Lys)
c.3123T>A (p.Asn1041Lys)
c.2607T>A (p.Asn869Lys)
n.3737T>A
c.3546T>A (p.Asn1182Lys)
c.3378T>A (p.Asn1126Lys)
c.3105T>A (p.Asn1035Lys)
c.2955T>A (p.Asn985Lys)
 dbSNP gnomAD v4
2g.208326375T>CCA2080062PIKFYVEc.3564T>C (p.Asn1188=)
c.3396T>C (p.Asn1132=)
c.3600T>C (p.Asn1200=)
c.3597T>C (p.Asn1199=)
c.3582T>C (p.Asn1194=)
c.3432T>C (p.Asn1144=)
c.3429T>C (p.Asn1143=)
c.3414T>C (p.Asn1138=)
c.3309T>C (p.Asn1103=)
c.3306T>C (p.Asn1102=)
c.3273T>C (p.Asn1091=)
c.3123T>C (p.Asn1041=)
c.2607T>C (p.Asn869=)
n.3737T>C
c.3546T>C (p.Asn1182=)
c.3378T>C (p.Asn1126=)
c.3105T>C (p.Asn1035=)
c.2955T>C (p.Asn985=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.208326375T>GCA350115819PIKFYVEc.3564T>G (p.Asn1188Lys)
c.3396T>G (p.Asn1132Lys)
c.3600T>G (p.Asn1200Lys)
c.3597T>G (p.Asn1199Lys)
c.3582T>G (p.Asn1194Lys)
c.3432T>G (p.Asn1144Lys)
c.3429T>G (p.Asn1143Lys)
c.3414T>G (p.Asn1138Lys)
c.3309T>G (p.Asn1103Lys)
c.3306T>G (p.Asn1102Lys)
c.3273T>G (p.Asn1091Lys)
c.3123T>G (p.Asn1041Lys)
c.2607T>G (p.Asn869Lys)
n.3737T>G
c.3546T>G (p.Asn1182Lys)
c.3378T>G (p.Asn1126Lys)
c.3105T>G (p.Asn1035Lys)
c.2955T>G (p.Asn985Lys)
 dbSNP gnomAD v2 gnomAD v4
2g.208326375T=CA1324023483PIKFYVEc.3564T= (p.Asn1188=)
c.3396T= (p.Asn1132=)
c.3600T= (p.Asn1200=)
c.3597T= (p.Asn1199=)
c.3582T= (p.Asn1194=)
c.3432T= (p.Asn1144=)
c.3429T= (p.Asn1143=)
c.3414T= (p.Asn1138=)
c.3309T= (p.Asn1103=)
c.3306T= (p.Asn1102=)
c.3273T= (p.Asn1091=)
c.3123T= (p.Asn1041=)
c.2607T= (p.Asn869=)
n.3737T=
c.3546T= (p.Asn1182=)
c.3378T= (p.Asn1126=)
c.3105T= (p.Asn1035=)
c.2955T= (p.Asn985=)
2g.208326376G>ACA2080063PIKFYVEc.3565G>A (p.Glu1189Lys)
c.3397G>A (p.Glu1133Lys)
c.3601G>A (p.Glu1201Lys)
c.3598G>A (p.Glu1200Lys)
c.3583G>A (p.Glu1195Lys)
c.3433G>A (p.Glu1145Lys)
c.3430G>A (p.Glu1144Lys)
c.3415G>A (p.Glu1139Lys)
c.3310G>A (p.Glu1104Lys)
c.3307G>A (p.Glu1103Lys)
c.3274G>A (p.Glu1092Lys)
c.3124G>A (p.Glu1042Lys)
c.2608G>A (p.Glu870Lys)
n.3738G>A
c.3547G>A (p.Glu1183Lys)
c.3379G>A (p.Glu1127Lys)
c.3106G>A (p.Glu1036Lys)
c.2956G>A (p.Glu986Lys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.208326376G>CCA2080064PIKFYVEc.3565G>C (p.Glu1189Gln)
c.3397G>C (p.Glu1133Gln)
c.3601G>C (p.Glu1201Gln)
c.3598G>C (p.Glu1200Gln)
c.3583G>C (p.Glu1195Gln)
c.3433G>C (p.Glu1145Gln)
c.3430G>C (p.Glu1144Gln)
c.3415G>C (p.Glu1139Gln)
c.3310G>C (p.Glu1104Gln)
c.3307G>C (p.Glu1103Gln)
c.3274G>C (p.Glu1092Gln)
c.3124G>C (p.Glu1042Gln)
c.2608G>C (p.Glu870Gln)
n.3738G>C
c.3547G>C (p.Glu1183Gln)
c.3379G>C (p.Glu1127Gln)
c.3106G>C (p.Glu1036Gln)
c.2956G>C (p.Glu986Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
2g.208326376G=CA1324023484PIKFYVEc.3565G= (p.Glu1189=)
c.3397G= (p.Glu1133=)
c.3601G= (p.Glu1201=)
c.3598G= (p.Glu1200=)
c.3583G= (p.Glu1195=)
c.3433G= (p.Glu1145=)
c.3430G= (p.Glu1144=)
c.3415G= (p.Glu1139=)
c.3310G= (p.Glu1104=)
c.3307G= (p.Glu1103=)
c.3274G= (p.Glu1092=)
c.3124G= (p.Glu1042=)
c.2608G= (p.Glu870=)
n.3738G=
c.3547G= (p.Glu1183=)
c.3379G= (p.Glu1127=)
c.3106G= (p.Glu1036=)
c.2956G= (p.Glu986=)
2g.208326376G>TCA350115820PIKFYVEc.3565G>T (p.Glu1189Ter)
c.3397G>T (p.Glu1133Ter)
c.3601G>T (p.Glu1201Ter)
c.3598G>T (p.Glu1200Ter)
c.3583G>T (p.Glu1195Ter)
c.3433G>T (p.Glu1145Ter)
c.3430G>T (p.Glu1144Ter)
c.3415G>T (p.Glu1139Ter)
c.3310G>T (p.Glu1104Ter)
c.3307G>T (p.Glu1103Ter)
c.3274G>T (p.Glu1092Ter)
c.3124G>T (p.Glu1042Ter)
c.2608G>T (p.Glu870Ter)
n.3738G>T
c.3547G>T (p.Glu1183Ter)
c.3379G>T (p.Glu1127Ter)
c.3106G>T (p.Glu1036Ter)
c.2956G>T (p.Glu986Ter)
2g.208326377A>CCA350115821PIKFYVEc.3566A>C (p.Glu1189Ala)
c.3398A>C (p.Glu1133Ala)
c.3602A>C (p.Glu1201Ala)
c.3599A>C (p.Glu1200Ala)
c.3584A>C (p.Glu1195Ala)
c.3434A>C (p.Glu1145Ala)
c.3431A>C (p.Glu1144Ala)
c.3416A>C (p.Glu1139Ala)
c.3311A>C (p.Glu1104Ala)
c.3308A>C (p.Glu1103Ala)
c.3275A>C (p.Glu1092Ala)
c.3125A>C (p.Glu1042Ala)
c.2609A>C (p.Glu870Ala)
n.3739A>C
c.3548A>C (p.Glu1183Ala)
c.3380A>C (p.Glu1127Ala)
c.3107A>C (p.Glu1036Ala)
c.2957A>C (p.Glu986Ala)
2g.208326377A>GCA350115822PIKFYVEc.3566A>G (p.Glu1189Gly)
c.3398A>G (p.Glu1133Gly)
c.3602A>G (p.Glu1201Gly)
c.3599A>G (p.Glu1200Gly)
c.3584A>G (p.Glu1195Gly)
c.3434A>G (p.Glu1145Gly)
c.3431A>G (p.Glu1144Gly)
c.3416A>G (p.Glu1139Gly)
c.3311A>G (p.Glu1104Gly)
c.3308A>G (p.Glu1103Gly)
c.3275A>G (p.Glu1092Gly)
c.3125A>G (p.Glu1042Gly)
c.2609A>G (p.Glu870Gly)
n.3739A>G
c.3548A>G (p.Glu1183Gly)
c.3380A>G (p.Glu1127Gly)
c.3107A>G (p.Glu1036Gly)
c.2957A>G (p.Glu986Gly)
2g.208326377A>TCA350115823PIKFYVEc.3566A>T (p.Glu1189Val)
c.3398A>T (p.Glu1133Val)
c.3602A>T (p.Glu1201Val)
c.3599A>T (p.Glu1200Val)
c.3584A>T (p.Glu1195Val)
c.3434A>T (p.Glu1145Val)
c.3431A>T (p.Glu1144Val)
c.3416A>T (p.Glu1139Val)
c.3311A>T (p.Glu1104Val)
c.3308A>T (p.Glu1103Val)
c.3275A>T (p.Glu1092Val)
c.3125A>T (p.Glu1042Val)
c.2609A>T (p.Glu870Val)
n.3739A>T
c.3548A>T (p.Glu1183Val)
c.3380A>T (p.Glu1127Val)
c.3107A>T (p.Glu1036Val)
c.2957A>T (p.Glu986Val)
2g.208326378G>ACA431117111PIKFYVEc.3567G>A (p.Glu1189=)
c.3399G>A (p.Glu1133=)
c.3603G>A (p.Glu1201=)
c.3600G>A (p.Glu1200=)
c.3585G>A (p.Glu1195=)
c.3435G>A (p.Glu1145=)
c.3432G>A (p.Glu1144=)
c.3417G>A (p.Glu1139=)
c.3312G>A (p.Glu1104=)
c.3309G>A (p.Glu1103=)
c.3276G>A (p.Glu1092=)
c.3126G>A (p.Glu1042=)
c.2610G>A (p.Glu870=)
n.3740G>A
c.3549G>A (p.Glu1183=)
c.3381G>A (p.Glu1127=)
c.3108G>A (p.Glu1036=)
c.2958G>A (p.Glu986=)
2g.208326378G>CCA350115825PIKFYVEc.3567G>C (p.Glu1189Asp)
c.3399G>C (p.Glu1133Asp)
c.3603G>C (p.Glu1201Asp)
c.3600G>C (p.Glu1200Asp)
c.3585G>C (p.Glu1195Asp)
c.3435G>C (p.Glu1145Asp)
c.3432G>C (p.Glu1144Asp)
c.3417G>C (p.Glu1139Asp)
c.3312G>C (p.Glu1104Asp)
c.3309G>C (p.Glu1103Asp)
c.3276G>C (p.Glu1092Asp)
c.3126G>C (p.Glu1042Asp)
c.2610G>C (p.Glu870Asp)
n.3740G>C
c.3549G>C (p.Glu1183Asp)
c.3381G>C (p.Glu1127Asp)
c.3108G>C (p.Glu1036Asp)
c.2958G>C (p.Glu986Asp)
2g.208326378G>TCA350115824PIKFYVEc.3567G>T (p.Glu1189Asp)
c.3399G>T (p.Glu1133Asp)
c.3603G>T (p.Glu1201Asp)
c.3600G>T (p.Glu1200Asp)
c.3585G>T (p.Glu1195Asp)
c.3435G>T (p.Glu1145Asp)
c.3432G>T (p.Glu1144Asp)
c.3417G>T (p.Glu1139Asp)
c.3312G>T (p.Glu1104Asp)
c.3309G>T (p.Glu1103Asp)
c.3276G>T (p.Glu1092Asp)
c.3126G>T (p.Glu1042Asp)
c.2610G>T (p.Glu870Asp)
n.3740G>T
c.3549G>T (p.Glu1183Asp)
c.3381G>T (p.Glu1127Asp)
c.3108G>T (p.Glu1036Asp)
c.2958G>T (p.Glu986Asp)
2g.208326379G>ACA350115826PIKFYVEc.3568G>A (p.Gly1190Ser)
c.3400G>A (p.Gly1134Ser)
c.3604G>A (p.Gly1202Ser)
c.3601G>A (p.Gly1201Ser)
c.3586G>A (p.Gly1196Ser)
c.3436G>A (p.Gly1146Ser)
c.3433G>A (p.Gly1145Ser)
c.3418G>A (p.Gly1140Ser)
c.3313G>A (p.Gly1105Ser)
c.3310G>A (p.Gly1104Ser)
c.3277G>A (p.Gly1093Ser)
c.3127G>A (p.Gly1043Ser)
c.2611G>A (p.Gly871Ser)
n.3741G>A
c.3550G>A (p.Gly1184Ser)
c.3382G>A (p.Gly1128Ser)
c.3109G>A (p.Gly1037Ser)
c.2959G>A (p.Gly987Ser)
 gnomAD v4
2g.208326379G>CCA350115827PIKFYVEc.3568G>C (p.Gly1190Arg)
c.3400G>C (p.Gly1134Arg)
c.3604G>C (p.Gly1202Arg)
c.3601G>C (p.Gly1201Arg)
c.3586G>C (p.Gly1196Arg)
c.3436G>C (p.Gly1146Arg)
c.3433G>C (p.Gly1145Arg)
c.3418G>C (p.Gly1140Arg)
c.3313G>C (p.Gly1105Arg)
c.3310G>C (p.Gly1104Arg)
c.3277G>C (p.Gly1093Arg)
c.3127G>C (p.Gly1043Arg)
c.2611G>C (p.Gly871Arg)
n.3741G>C
c.3550G>C (p.Gly1184Arg)
c.3382G>C (p.Gly1128Arg)
c.3109G>C (p.Gly1037Arg)
c.2959G>C (p.Gly987Arg)
2g.208326379G>TCA350115828PIKFYVEc.3568G>T (p.Gly1190Cys)
c.3400G>T (p.Gly1134Cys)
c.3604G>T (p.Gly1202Cys)
c.3601G>T (p.Gly1201Cys)
c.3586G>T (p.Gly1196Cys)
c.3436G>T (p.Gly1146Cys)
c.3433G>T (p.Gly1145Cys)
c.3418G>T (p.Gly1140Cys)
c.3313G>T (p.Gly1105Cys)
c.3310G>T (p.Gly1104Cys)
c.3277G>T (p.Gly1093Cys)
c.3127G>T (p.Gly1043Cys)
c.2611G>T (p.Gly871Cys)
n.3741G>T
c.3550G>T (p.Gly1184Cys)
c.3382G>T (p.Gly1128Cys)
c.3109G>T (p.Gly1037Cys)
c.2959G>T (p.Gly987Cys)
2g.208326380G>ACA350115829PIKFYVEc.3569G>A (p.Gly1190Asp)
c.3401G>A (p.Gly1134Asp)
c.3605G>A (p.Gly1202Asp)
c.3602G>A (p.Gly1201Asp)
c.3587G>A (p.Gly1196Asp)
c.3437G>A (p.Gly1146Asp)
c.3434G>A (p.Gly1145Asp)
c.3419G>A (p.Gly1140Asp)
c.3314G>A (p.Gly1105Asp)
c.3311G>A (p.Gly1104Asp)
c.3278G>A (p.Gly1093Asp)
c.3128G>A (p.Gly1043Asp)
c.2612G>A (p.Gly871Asp)
n.3742G>A
c.3551G>A (p.Gly1184Asp)
c.3383G>A (p.Gly1128Asp)
c.3110G>A (p.Gly1037Asp)
c.2960G>A (p.Gly987Asp)
 gnomAD v4
2g.208326380G>CCA350115830PIKFYVEc.3569G>C (p.Gly1190Ala)
c.3401G>C (p.Gly1134Ala)
c.3605G>C (p.Gly1202Ala)
c.3602G>C (p.Gly1201Ala)
c.3587G>C (p.Gly1196Ala)
c.3437G>C (p.Gly1146Ala)
c.3434G>C (p.Gly1145Ala)
c.3419G>C (p.Gly1140Ala)
c.3314G>C (p.Gly1105Ala)
c.3311G>C (p.Gly1104Ala)
c.3278G>C (p.Gly1093Ala)
c.3128G>C (p.Gly1043Ala)
c.2612G>C (p.Gly871Ala)
n.3742G>C
c.3551G>C (p.Gly1184Ala)
c.3383G>C (p.Gly1128Ala)
c.3110G>C (p.Gly1037Ala)
c.2960G>C (p.Gly987Ala)
 dbSNP gnomAD v4
2g.208326380G=CA1324023485PIKFYVEc.3569G= (p.Gly1190=)
c.3401G= (p.Gly1134=)
c.3605G= (p.Gly1202=)
c.3602G= (p.Gly1201=)
c.3587G= (p.Gly1196=)
c.3437G= (p.Gly1146=)
c.3434G= (p.Gly1145=)
c.3419G= (p.Gly1140=)
c.3314G= (p.Gly1105=)
c.3311G= (p.Gly1104=)
c.3278G= (p.Gly1093=)
c.3128G= (p.Gly1043=)
c.2612G= (p.Gly871=)
n.3742G=
c.3551G= (p.Gly1184=)
c.3383G= (p.Gly1128=)
c.3110G= (p.Gly1037=)
c.2960G= (p.Gly987=)
2g.208326380G>TCA350115831PIKFYVEc.3569G>T (p.Gly1190Val)
c.3401G>T (p.Gly1134Val)
c.3605G>T (p.Gly1202Val)
c.3602G>T (p.Gly1201Val)
c.3587G>T (p.Gly1196Val)
c.3437G>T (p.Gly1146Val)
c.3434G>T (p.Gly1145Val)
c.3419G>T (p.Gly1140Val)
c.3314G>T (p.Gly1105Val)
c.3311G>T (p.Gly1104Val)
c.3278G>T (p.Gly1093Val)
c.3128G>T (p.Gly1043Val)
c.2612G>T (p.Gly871Val)
n.3742G>T
c.3551G>T (p.Gly1184Val)
c.3383G>T (p.Gly1128Val)
c.3110G>T (p.Gly1037Val)
c.2960G>T (p.Gly987Val)
 gnomAD v4
2g.208326381T>ACA431117112PIKFYVEc.3570T>A (p.Gly1190=)
c.3402T>A (p.Gly1134=)
c.3606T>A (p.Gly1202=)
c.3603T>A (p.Gly1201=)
c.3588T>A (p.Gly1196=)
c.3438T>A (p.Gly1146=)
c.3435T>A (p.Gly1145=)
c.3420T>A (p.Gly1140=)
c.3315T>A (p.Gly1105=)
c.3312T>A (p.Gly1104=)
c.3279T>A (p.Gly1093=)
c.3129T>A (p.Gly1043=)
c.2613T>A (p.Gly871=)
n.3743T>A
c.3552T>A (p.Gly1184=)
c.3384T>A (p.Gly1128=)
c.3111T>A (p.Gly1037=)
c.2961T>A (p.Gly987=)
2g.208326381T>CCA431117113PIKFYVEc.3570T>C (p.Gly1190=)
c.3402T>C (p.Gly1134=)
c.3606T>C (p.Gly1202=)
c.3603T>C (p.Gly1201=)
c.3588T>C (p.Gly1196=)
c.3438T>C (p.Gly1146=)
c.3435T>C (p.Gly1145=)
c.3420T>C (p.Gly1140=)
c.3315T>C (p.Gly1105=)
c.3312T>C (p.Gly1104=)
c.3279T>C (p.Gly1093=)
c.3129T>C (p.Gly1043=)
c.2613T>C (p.Gly871=)
n.3743T>C
c.3552T>C (p.Gly1184=)
c.3384T>C (p.Gly1128=)
c.3111T>C (p.Gly1037=)
c.2961T>C (p.Gly987=)
 gnomAD v4
2g.208326381T>GCA431117114PIKFYVEc.3570T>G (p.Gly1190=)
c.3402T>G (p.Gly1134=)
c.3606T>G (p.Gly1202=)
c.3603T>G (p.Gly1201=)
c.3588T>G (p.Gly1196=)
c.3438T>G (p.Gly1146=)
c.3435T>G (p.Gly1145=)
c.3420T>G (p.Gly1140=)
c.3315T>G (p.Gly1105=)
c.3312T>G (p.Gly1104=)
c.3279T>G (p.Gly1093=)
c.3129T>G (p.Gly1043=)
c.2613T>G (p.Gly871=)
n.3743T>G
c.3552T>G (p.Gly1184=)
c.3384T>G (p.Gly1128=)
c.3111T>G (p.Gly1037=)
c.2961T>G (p.Gly987=)
2g.208326382G>ACA350115832PIKFYVEc.3571G>A (p.Asp1191Asn)
c.3403G>A (p.Asp1135Asn)
c.3607G>A (p.Asp1203Asn)
c.3604G>A (p.Asp1202Asn)
c.3589G>A (p.Asp1197Asn)
c.3439G>A (p.Asp1147Asn)
c.3436G>A (p.Asp1146Asn)
c.3421G>A (p.Asp1141Asn)
c.3316G>A (p.Asp1106Asn)
c.3313G>A (p.Asp1105Asn)
c.3280G>A (p.Asp1094Asn)
c.3130G>A (p.Asp1044Asn)
c.2614G>A (p.Asp872Asn)
n.3744G>A
c.3553G>A (p.Asp1185Asn)
c.3385G>A (p.Asp1129Asn)
c.3112G>A (p.Asp1038Asn)
c.2962G>A (p.Asp988Asn)
 gnomAD v4
2g.208326382G>CCA350115833PIKFYVEc.3571G>C (p.Asp1191His)
c.3403G>C (p.Asp1135His)
c.3607G>C (p.Asp1203His)
c.3604G>C (p.Asp1202His)
c.3589G>C (p.Asp1197His)
c.3439G>C (p.Asp1147His)
c.3436G>C (p.Asp1146His)
c.3421G>C (p.Asp1141His)
c.3316G>C (p.Asp1106His)
c.3313G>C (p.Asp1105His)
c.3280G>C (p.Asp1094His)
c.3130G>C (p.Asp1044His)
c.2614G>C (p.Asp872His)
n.3744G>C
c.3553G>C (p.Asp1185His)
c.3385G>C (p.Asp1129His)
c.3112G>C (p.Asp1038His)
c.2962G>C (p.Asp988His)
2g.208326382G>TCA350115834PIKFYVEc.3571G>T (p.Asp1191Tyr)
c.3403G>T (p.Asp1135Tyr)
c.3607G>T (p.Asp1203Tyr)
c.3604G>T (p.Asp1202Tyr)
c.3589G>T (p.Asp1197Tyr)
c.3439G>T (p.Asp1147Tyr)
c.3436G>T (p.Asp1146Tyr)
c.3421G>T (p.Asp1141Tyr)
c.3316G>T (p.Asp1106Tyr)
c.3313G>T (p.Asp1105Tyr)
c.3280G>T (p.Asp1094Tyr)
c.3130G>T (p.Asp1044Tyr)
c.2614G>T (p.Asp872Tyr)
n.3744G>T
c.3553G>T (p.Asp1185Tyr)
c.3385G>T (p.Asp1129Tyr)
c.3112G>T (p.Asp1038Tyr)
c.2962G>T (p.Asp988Tyr)
2g.208326383A=CA1324023486PIKFYVEc.3572A= (p.Asp1191=)
c.3404A= (p.Asp1135=)
c.3608A= (p.Asp1203=)
c.3605A= (p.Asp1202=)
c.3590A= (p.Asp1197=)
c.3440A= (p.Asp1147=)
c.3437A= (p.Asp1146=)
c.3422A= (p.Asp1141=)
c.3317A= (p.Asp1106=)
c.3314A= (p.Asp1105=)
c.3281A= (p.Asp1094=)
c.3131A= (p.Asp1044=)
c.2615A= (p.Asp872=)
n.3745A=
c.3554A= (p.Asp1185=)
c.3386A= (p.Asp1129=)
c.3113A= (p.Asp1038=)
c.2963A= (p.Asp988=)
2g.208326383A>CCA350115835PIKFYVEc.3572A>C (p.Asp1191Ala)
c.3404A>C (p.Asp1135Ala)
c.3608A>C (p.Asp1203Ala)
c.3605A>C (p.Asp1202Ala)
c.3590A>C (p.Asp1197Ala)
c.3440A>C (p.Asp1147Ala)
c.3437A>C (p.Asp1146Ala)
c.3422A>C (p.Asp1141Ala)
c.3317A>C (p.Asp1106Ala)
c.3314A>C (p.Asp1105Ala)
c.3281A>C (p.Asp1094Ala)
c.3131A>C (p.Asp1044Ala)
c.2615A>C (p.Asp872Ala)
n.3745A>C
c.3554A>C (p.Asp1185Ala)
c.3386A>C (p.Asp1129Ala)
c.3113A>C (p.Asp1038Ala)
c.2963A>C (p.Asp988Ala)
2g.208326383A>GCA350115836PIKFYVEc.3572A>G (p.Asp1191Gly)
c.3404A>G (p.Asp1135Gly)
c.3608A>G (p.Asp1203Gly)
c.3605A>G (p.Asp1202Gly)
c.3590A>G (p.Asp1197Gly)
c.3440A>G (p.Asp1147Gly)
c.3437A>G (p.Asp1146Gly)
c.3422A>G (p.Asp1141Gly)
c.3317A>G (p.Asp1106Gly)
c.3314A>G (p.Asp1105Gly)
c.3281A>G (p.Asp1094Gly)
c.3131A>G (p.Asp1044Gly)
c.2615A>G (p.Asp872Gly)
n.3745A>G
c.3554A>G (p.Asp1185Gly)
c.3386A>G (p.Asp1129Gly)
c.3113A>G (p.Asp1038Gly)
c.2963A>G (p.Asp988Gly)
 dbSNP gnomAD v2 gnomAD v4
2g.208326383A>TCA64596824PIKFYVEc.3572A>T (p.Asp1191Val)
c.3404A>T (p.Asp1135Val)
c.3608A>T (p.Asp1203Val)
c.3605A>T (p.Asp1202Val)
c.3590A>T (p.Asp1197Val)
c.3440A>T (p.Asp1147Val)
c.3437A>T (p.Asp1146Val)
c.3422A>T (p.Asp1141Val)
c.3317A>T (p.Asp1106Val)
c.3314A>T (p.Asp1105Val)
c.3281A>T (p.Asp1094Val)
c.3131A>T (p.Asp1044Val)
c.2615A>T (p.Asp872Val)
n.3745A>T
c.3554A>T (p.Asp1185Val)
c.3386A>T (p.Asp1129Val)
c.3113A>T (p.Asp1038Val)
c.2963A>T (p.Asp988Val)
 dbSNP
2g.208326384T>ACA350115838PIKFYVEc.3573T>A (p.Asp1191Glu)
c.3405T>A (p.Asp1135Glu)
c.3609T>A (p.Asp1203Glu)
c.3606T>A (p.Asp1202Glu)
c.3591T>A (p.Asp1197Glu)
c.3441T>A (p.Asp1147Glu)
c.3438T>A (p.Asp1146Glu)
c.3423T>A (p.Asp1141Glu)
c.3318T>A (p.Asp1106Glu)
c.3315T>A (p.Asp1105Glu)
c.3282T>A (p.Asp1094Glu)
c.3132T>A (p.Asp1044Glu)
c.2616T>A (p.Asp872Glu)
n.3746T>A
c.3555T>A (p.Asp1185Glu)
c.3387T>A (p.Asp1129Glu)
c.3114T>A (p.Asp1038Glu)
c.2964T>A (p.Asp988Glu)
2g.208326384T>CCA431117115PIKFYVEc.3573T>C (p.Asp1191=)
c.3405T>C (p.Asp1135=)
c.3609T>C (p.Asp1203=)
c.3606T>C (p.Asp1202=)
c.3591T>C (p.Asp1197=)
c.3441T>C (p.Asp1147=)
c.3438T>C (p.Asp1146=)
c.3423T>C (p.Asp1141=)
c.3318T>C (p.Asp1106=)
c.3315T>C (p.Asp1105=)
c.3282T>C (p.Asp1094=)
c.3132T>C (p.Asp1044=)
c.2616T>C (p.Asp872=)
n.3746T>C
c.3555T>C (p.Asp1185=)
c.3387T>C (p.Asp1129=)
c.3114T>C (p.Asp1038=)
c.2964T>C (p.Asp988=)
2g.208326384T>GCA350115837PIKFYVEc.3573T>G (p.Asp1191Glu)
c.3405T>G (p.Asp1135Glu)
c.3609T>G (p.Asp1203Glu)
c.3606T>G (p.Asp1202Glu)
c.3591T>G (p.Asp1197Glu)
c.3441T>G (p.Asp1147Glu)
c.3438T>G (p.Asp1146Glu)
c.3423T>G (p.Asp1141Glu)
c.3318T>G (p.Asp1106Glu)
c.3315T>G (p.Asp1105Glu)
c.3282T>G (p.Asp1094Glu)
c.3132T>G (p.Asp1044Glu)
c.2616T>G (p.Asp872Glu)
n.3746T>G
c.3555T>G (p.Asp1185Glu)
c.3387T>G (p.Asp1129Glu)
c.3114T>G (p.Asp1038Glu)
c.2964T>G (p.Asp988Glu)
2g.208326385G>ACA350115839PIKFYVEc.3574G>A (p.Glu1192Lys)
c.3406G>A (p.Glu1136Lys)
c.3610G>A (p.Glu1204Lys)
c.3607G>A (p.Glu1203Lys)
c.3592G>A (p.Glu1198Lys)
c.3442G>A (p.Glu1148Lys)
c.3439G>A (p.Glu1147Lys)
c.3424G>A (p.Glu1142Lys)
c.3319G>A (p.Glu1107Lys)
c.3316G>A (p.Glu1106Lys)
c.3283G>A (p.Glu1095Lys)
c.3133G>A (p.Glu1045Lys)
c.2617G>A (p.Glu873Lys)
n.3747G>A
c.3556G>A (p.Glu1186Lys)
c.3388G>A (p.Glu1130Lys)
c.3115G>A (p.Glu1039Lys)
c.2965G>A (p.Glu989Lys)
2g.208326385G>CCA350115840PIKFYVEc.3574G>C (p.Glu1192Gln)
c.3406G>C (p.Glu1136Gln)
c.3610G>C (p.Glu1204Gln)
c.3607G>C (p.Glu1203Gln)
c.3592G>C (p.Glu1198Gln)
c.3442G>C (p.Glu1148Gln)
c.3439G>C (p.Glu1147Gln)
c.3424G>C (p.Glu1142Gln)
c.3319G>C (p.Glu1107Gln)
c.3316G>C (p.Glu1106Gln)
c.3283G>C (p.Glu1095Gln)
c.3133G>C (p.Glu1045Gln)
c.2617G>C (p.Glu873Gln)
n.3747G>C
c.3556G>C (p.Glu1186Gln)
c.3388G>C (p.Glu1130Gln)
c.3115G>C (p.Glu1039Gln)
c.2965G>C (p.Glu989Gln)
2g.208326385G>TCA350115841PIKFYVEc.3574G>T (p.Glu1192Ter)
c.3406G>T (p.Glu1136Ter)
c.3610G>T (p.Glu1204Ter)
c.3607G>T (p.Glu1203Ter)
c.3592G>T (p.Glu1198Ter)
c.3442G>T (p.Glu1148Ter)
c.3439G>T (p.Glu1147Ter)
c.3424G>T (p.Glu1142Ter)
c.3319G>T (p.Glu1107Ter)
c.3316G>T (p.Glu1106Ter)
c.3283G>T (p.Glu1095Ter)
c.3133G>T (p.Glu1045Ter)
c.2617G>T (p.Glu873Ter)
n.3747G>T
c.3556G>T (p.Glu1186Ter)
c.3388G>T (p.Glu1130Ter)
c.3115G>T (p.Glu1039Ter)
c.2965G>T (p.Glu989Ter)
2g.208326386A>CCA350115842PIKFYVEc.3575A>C (p.Glu1192Ala)
c.3407A>C (p.Glu1136Ala)
c.3611A>C (p.Glu1204Ala)
c.3608A>C (p.Glu1203Ala)
c.3593A>C (p.Glu1198Ala)
c.3443A>C (p.Glu1148Ala)
c.3440A>C (p.Glu1147Ala)
c.3425A>C (p.Glu1142Ala)
c.3320A>C (p.Glu1107Ala)
c.3317A>C (p.Glu1106Ala)
c.3284A>C (p.Glu1095Ala)
c.3134A>C (p.Glu1045Ala)
c.2618A>C (p.Glu873Ala)
n.3748A>C
c.3557A>C (p.Glu1186Ala)
c.3389A>C (p.Glu1130Ala)
c.3116A>C (p.Glu1039Ala)
c.2966A>C (p.Glu989Ala)
2g.208326386A>GCA350115843PIKFYVEc.3575A>G (p.Glu1192Gly)
c.3407A>G (p.Glu1136Gly)
c.3611A>G (p.Glu1204Gly)
c.3608A>G (p.Glu1203Gly)
c.3593A>G (p.Glu1198Gly)
c.3443A>G (p.Glu1148Gly)
c.3440A>G (p.Glu1147Gly)
c.3425A>G (p.Glu1142Gly)
c.3320A>G (p.Glu1107Gly)
c.3317A>G (p.Glu1106Gly)
c.3284A>G (p.Glu1095Gly)
c.3134A>G (p.Glu1045Gly)
c.2618A>G (p.Glu873Gly)
n.3748A>G
c.3557A>G (p.Glu1186Gly)
c.3389A>G (p.Glu1130Gly)
c.3116A>G (p.Glu1039Gly)
c.2966A>G (p.Glu989Gly)
2g.208326386A>TCA350115844PIKFYVEc.3575A>T (p.Glu1192Val)
c.3407A>T (p.Glu1136Val)
c.3611A>T (p.Glu1204Val)
c.3608A>T (p.Glu1203Val)
c.3593A>T (p.Glu1198Val)
c.3443A>T (p.Glu1148Val)
c.3440A>T (p.Glu1147Val)
c.3425A>T (p.Glu1142Val)
c.3320A>T (p.Glu1107Val)
c.3317A>T (p.Glu1106Val)
c.3284A>T (p.Glu1095Val)
c.3134A>T (p.Glu1045Val)
c.2618A>T (p.Glu873Val)
n.3748A>T
c.3557A>T (p.Glu1186Val)
c.3389A>T (p.Glu1130Val)
c.3116A>T (p.Glu1039Val)
c.2966A>T (p.Glu989Val)
2g.208326387A>CCA350115846PIKFYVEc.3576A>C (p.Glu1192Asp)
c.3408A>C (p.Glu1136Asp)
c.3612A>C (p.Glu1204Asp)
c.3609A>C (p.Glu1203Asp)
c.3594A>C (p.Glu1198Asp)
c.3444A>C (p.Glu1148Asp)
c.3441A>C (p.Glu1147Asp)
c.3426A>C (p.Glu1142Asp)
c.3321A>C (p.Glu1107Asp)
c.3318A>C (p.Glu1106Asp)
c.3285A>C (p.Glu1095Asp)
c.3135A>C (p.Glu1045Asp)
c.2619A>C (p.Glu873Asp)
n.3749A>C
c.3558A>C (p.Glu1186Asp)
c.3390A>C (p.Glu1130Asp)
c.3117A>C (p.Glu1039Asp)
c.2967A>C (p.Glu989Asp)
2g.208326387A>GCA431117116PIKFYVEc.3576A>G (p.Glu1192=)
c.3408A>G (p.Glu1136=)
c.3612A>G (p.Glu1204=)
c.3609A>G (p.Glu1203=)
c.3594A>G (p.Glu1198=)
c.3444A>G (p.Glu1148=)
c.3441A>G (p.Glu1147=)
c.3426A>G (p.Glu1142=)
c.3321A>G (p.Glu1107=)
c.3318A>G (p.Glu1106=)
c.3285A>G (p.Glu1095=)
c.3135A>G (p.Glu1045=)
c.2619A>G (p.Glu873=)
n.3749A>G
c.3558A>G (p.Glu1186=)
c.3390A>G (p.Glu1130=)
c.3117A>G (p.Glu1039=)
c.2967A>G (p.Glu989=)
 gnomAD v4
2g.208326387A>TCA350115845PIKFYVEc.3576A>T (p.Glu1192Asp)
c.3408A>T (p.Glu1136Asp)
c.3612A>T (p.Glu1204Asp)
c.3609A>T (p.Glu1203Asp)
c.3594A>T (p.Glu1198Asp)
c.3444A>T (p.Glu1148Asp)
c.3441A>T (p.Glu1147Asp)
c.3426A>T (p.Glu1142Asp)
c.3321A>T (p.Glu1107Asp)
c.3318A>T (p.Glu1106Asp)
c.3285A>T (p.Glu1095Asp)
c.3135A>T (p.Glu1045Asp)
c.2619A>T (p.Glu873Asp)
n.3749A>T
c.3558A>T (p.Glu1186Asp)
c.3390A>T (p.Glu1130Asp)
c.3117A>T (p.Glu1039Asp)
c.2967A>T (p.Glu989Asp)
2g.208326391_208326394delCA2662880249PIKFYVEc.3580_3583del (p.Arg1194GlyfsTer4)
c.3412_3415del (p.Arg1138GlyfsTer4)
c.3616_3619del (p.Arg1206GlyfsTer4)
c.3613_3616del (p.Arg1205GlyfsTer4)
c.3598_3601del (p.Arg1200GlyfsTer4)
c.3448_3451del (p.Arg1150GlyfsTer4)
c.3445_3448del (p.Arg1149GlyfsTer4)
c.3430_3433del (p.Arg1144GlyfsTer4)
c.3325_3328del (p.Arg1109GlyfsTer4)
c.3322_3325del (p.Arg1108GlyfsTer4)
c.3289_3292del (p.Arg1097GlyfsTer4)
c.3139_3142del (p.Arg1047GlyfsTer4)
c.2623_2626del (p.Arg875GlyfsTer4)
n.3753_3756del
c.3562_3565del (p.Arg1188GlyfsTer4)
c.3394_3397del (p.Arg1132GlyfsTer4)
c.3121_3124del (p.Arg1041GlyfsTer4)
c.2971_2974del (p.Arg991GlyfsTer4)
 gnomAD v4
2g.208326388G>ACA350115847PIKFYVEc.3577G>A (p.Glu1193Lys)
c.3409G>A (p.Glu1137Lys)
c.3613G>A (p.Glu1205Lys)
c.3610G>A (p.Glu1204Lys)
c.3595G>A (p.Glu1199Lys)
c.3445G>A (p.Glu1149Lys)
c.3442G>A (p.Glu1148Lys)
c.3427G>A (p.Glu1143Lys)
c.3322G>A (p.Glu1108Lys)
c.3319G>A (p.Glu1107Lys)
c.3286G>A (p.Glu1096Lys)
c.3136G>A (p.Glu1046Lys)
c.2620G>A (p.Glu874Lys)
n.3750G>A
c.3559G>A (p.Glu1187Lys)
c.3391G>A (p.Glu1131Lys)
c.3118G>A (p.Glu1040Lys)
c.2968G>A (p.Glu990Lys)
2g.208326388G>CCA350115848PIKFYVEc.3577G>C (p.Glu1193Gln)
c.3409G>C (p.Glu1137Gln)
c.3613G>C (p.Glu1205Gln)
c.3610G>C (p.Glu1204Gln)
c.3595G>C (p.Glu1199Gln)
c.3445G>C (p.Glu1149Gln)
c.3442G>C (p.Glu1148Gln)
c.3427G>C (p.Glu1143Gln)
c.3322G>C (p.Glu1108Gln)
c.3319G>C (p.Glu1107Gln)
c.3286G>C (p.Glu1096Gln)
c.3136G>C (p.Glu1046Gln)
c.2620G>C (p.Glu874Gln)
n.3750G>C
c.3559G>C (p.Glu1187Gln)
c.3391G>C (p.Glu1131Gln)
c.3118G>C (p.Glu1040Gln)
c.2968G>C (p.Glu990Gln)
2g.208326388G>TCA350115849PIKFYVEc.3577G>T (p.Glu1193Ter)
c.3409G>T (p.Glu1137Ter)
c.3613G>T (p.Glu1205Ter)
c.3610G>T (p.Glu1204Ter)
c.3595G>T (p.Glu1199Ter)
c.3445G>T (p.Glu1149Ter)
c.3442G>T (p.Glu1148Ter)
c.3427G>T (p.Glu1143Ter)
c.3322G>T (p.Glu1108Ter)
c.3319G>T (p.Glu1107Ter)
c.3286G>T (p.Glu1096Ter)
c.3136G>T (p.Glu1046Ter)
c.2620G>T (p.Glu874Ter)
n.3750G>T
c.3559G>T (p.Glu1187Ter)
c.3391G>T (p.Glu1131Ter)
c.3118G>T (p.Glu1040Ter)
c.2968G>T (p.Glu990Ter)
2g.208326389A>CCA350115850PIKFYVEc.3578A>C (p.Glu1193Ala)
c.3410A>C (p.Glu1137Ala)
c.3614A>C (p.Glu1205Ala)
c.3611A>C (p.Glu1204Ala)
c.3596A>C (p.Glu1199Ala)
c.3446A>C (p.Glu1149Ala)
c.3443A>C (p.Glu1148Ala)
c.3428A>C (p.Glu1143Ala)
c.3323A>C (p.Glu1108Ala)
c.3320A>C (p.Glu1107Ala)
c.3287A>C (p.Glu1096Ala)
c.3137A>C (p.Glu1046Ala)
c.2621A>C (p.Glu874Ala)
n.3751A>C
c.3560A>C (p.Glu1187Ala)
c.3392A>C (p.Glu1131Ala)
c.3119A>C (p.Glu1040Ala)
c.2969A>C (p.Glu990Ala)
2g.208326389A>GCA350115851PIKFYVEc.3578A>G (p.Glu1193Gly)
c.3410A>G (p.Glu1137Gly)
c.3614A>G (p.Glu1205Gly)
c.3611A>G (p.Glu1204Gly)
c.3596A>G (p.Glu1199Gly)
c.3446A>G (p.Glu1149Gly)
c.3443A>G (p.Glu1148Gly)
c.3428A>G (p.Glu1143Gly)
c.3323A>G (p.Glu1108Gly)
c.3320A>G (p.Glu1107Gly)
c.3287A>G (p.Glu1096Gly)
c.3137A>G (p.Glu1046Gly)
c.2621A>G (p.Glu874Gly)
n.3751A>G
c.3560A>G (p.Glu1187Gly)
c.3392A>G (p.Glu1131Gly)
c.3119A>G (p.Glu1040Gly)
c.2969A>G (p.Glu990Gly)
2g.208326389A>TCA350115852PIKFYVEc.3578A>T (p.Glu1193Val)
c.3410A>T (p.Glu1137Val)
c.3614A>T (p.Glu1205Val)
c.3611A>T (p.Glu1204Val)
c.3596A>T (p.Glu1199Val)
c.3446A>T (p.Glu1149Val)
c.3443A>T (p.Glu1148Val)
c.3428A>T (p.Glu1143Val)
c.3323A>T (p.Glu1108Val)
c.3320A>T (p.Glu1107Val)
c.3287A>T (p.Glu1096Val)
c.3137A>T (p.Glu1046Val)
c.2621A>T (p.Glu874Val)
n.3751A>T
c.3560A>T (p.Glu1187Val)
c.3392A>T (p.Glu1131Val)
c.3119A>T (p.Glu1040Val)
c.2969A>T (p.Glu990Val)
2g.208326390G>ACA2080065PIKFYVEc.3579G>A (p.Glu1193=)
c.3411G>A (p.Glu1137=)
c.3615G>A (p.Glu1205=)
c.3612G>A (p.Glu1204=)
c.3597G>A (p.Glu1199=)
c.3447G>A (p.Glu1149=)
c.3444G>A (p.Glu1148=)
c.3429G>A (p.Glu1143=)
c.3324G>A (p.Glu1108=)
c.3321G>A (p.Glu1107=)
c.3288G>A (p.Glu1096=)
c.3138G>A (p.Glu1046=)
c.2622G>A (p.Glu874=)
n.3752G>A
c.3561G>A (p.Glu1187=)
c.3393G>A (p.Glu1131=)
c.3120G>A (p.Glu1040=)
c.2970G>A (p.Glu990=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.208326390G>CCA350115853PIKFYVEc.3579G>C (p.Glu1193Asp)
c.3411G>C (p.Glu1137Asp)
c.3615G>C (p.Glu1205Asp)
c.3612G>C (p.Glu1204Asp)
c.3597G>C (p.Glu1199Asp)
c.3447G>C (p.Glu1149Asp)
c.3444G>C (p.Glu1148Asp)
c.3429G>C (p.Glu1143Asp)
c.3324G>C (p.Glu1108Asp)
c.3321G>C (p.Glu1107Asp)
c.3288G>C (p.Glu1096Asp)
c.3138G>C (p.Glu1046Asp)
c.2622G>C (p.Glu874Asp)
n.3752G>C
c.3561G>C (p.Glu1187Asp)
c.3393G>C (p.Glu1131Asp)
c.3120G>C (p.Glu1040Asp)
c.2970G>C (p.Glu990Asp)
2g.208326390G=CA1324023487PIKFYVEc.3579G= (p.Glu1193=)
c.3411G= (p.Glu1137=)
c.3615G= (p.Glu1205=)
c.3612G= (p.Glu1204=)
c.3597G= (p.Glu1199=)
c.3447G= (p.Glu1149=)
c.3444G= (p.Glu1148=)
c.3429G= (p.Glu1143=)
c.3324G= (p.Glu1108=)
c.3321G= (p.Glu1107=)
c.3288G= (p.Glu1096=)
c.3138G= (p.Glu1046=)
c.2622G= (p.Glu874=)
n.3752G=
c.3561G= (p.Glu1187=)
c.3393G= (p.Glu1131=)
c.3120G= (p.Glu1040=)
c.2970G= (p.Glu990=)
2g.208326390G>TCA350115854PIKFYVEc.3579G>T (p.Glu1193Asp)
c.3411G>T (p.Glu1137Asp)
c.3615G>T (p.Glu1205Asp)
c.3612G>T (p.Glu1204Asp)
c.3597G>T (p.Glu1199Asp)
c.3447G>T (p.Glu1149Asp)
c.3444G>T (p.Glu1148Asp)
c.3429G>T (p.Glu1143Asp)
c.3324G>T (p.Glu1108Asp)
c.3321G>T (p.Glu1107Asp)
c.3288G>T (p.Glu1096Asp)
c.3138G>T (p.Glu1046Asp)
c.2622G>T (p.Glu874Asp)
n.3752G>T
c.3561G>T (p.Glu1187Asp)
c.3393G>T (p.Glu1131Asp)
c.3120G>T (p.Glu1040Asp)
c.2970G>T (p.Glu990Asp)
2g.208326391A>CCA431117117PIKFYVEc.3580A>C (p.Arg1194=)
c.3412A>C (p.Arg1138=)
c.3616A>C (p.Arg1206=)
c.3613A>C (p.Arg1205=)
c.3598A>C (p.Arg1200=)
c.3448A>C (p.Arg1150=)
c.3445A>C (p.Arg1149=)
c.3430A>C (p.Arg1144=)
c.3325A>C (p.Arg1109=)
c.3322A>C (p.Arg1108=)
c.3289A>C (p.Arg1097=)
c.3139A>C (p.Arg1047=)
c.2623A>C (p.Arg875=)
n.3753A>C
c.3562A>C (p.Arg1188=)
c.3394A>C (p.Arg1132=)
c.3121A>C (p.Arg1041=)
c.2971A>C (p.Arg991=)
2g.208326391A>GCA350115855PIKFYVEc.3580A>G (p.Arg1194Gly)
c.3412A>G (p.Arg1138Gly)
c.3616A>G (p.Arg1206Gly)
c.3613A>G (p.Arg1205Gly)
c.3598A>G (p.Arg1200Gly)
c.3448A>G (p.Arg1150Gly)
c.3445A>G (p.Arg1149Gly)
c.3430A>G (p.Arg1144Gly)
c.3325A>G (p.Arg1109Gly)
c.3322A>G (p.Arg1108Gly)
c.3289A>G (p.Arg1097Gly)
c.3139A>G (p.Arg1047Gly)
c.2623A>G (p.Arg875Gly)
n.3753A>G
c.3562A>G (p.Arg1188Gly)
c.3394A>G (p.Arg1132Gly)
c.3121A>G (p.Arg1041Gly)
c.2971A>G (p.Arg991Gly)
 gnomAD v4
2g.208326391A>TCA350115856PIKFYVEc.3580A>T (p.Arg1194Ter)
c.3412A>T (p.Arg1138Ter)
c.3616A>T (p.Arg1206Ter)
c.3613A>T (p.Arg1205Ter)
c.3598A>T (p.Arg1200Ter)
c.3448A>T (p.Arg1150Ter)
c.3445A>T (p.Arg1149Ter)
c.3430A>T (p.Arg1144Ter)
c.3325A>T (p.Arg1109Ter)
c.3322A>T (p.Arg1108Ter)
c.3289A>T (p.Arg1097Ter)
c.3139A>T (p.Arg1047Ter)
c.2623A>T (p.Arg875Ter)
n.3753A>T
c.3562A>T (p.Arg1188Ter)
c.3394A>T (p.Arg1132Ter)
c.3121A>T (p.Arg1041Ter)
c.2971A>T (p.Arg991Ter)
2g.208326392G>ACA350115857PIKFYVEc.3581G>A (p.Arg1194Lys)
c.3413G>A (p.Arg1138Lys)
c.3617G>A (p.Arg1206Lys)
c.3614G>A (p.Arg1205Lys)
c.3599G>A (p.Arg1200Lys)
c.3449G>A (p.Arg1150Lys)
c.3446G>A (p.Arg1149Lys)
c.3431G>A (p.Arg1144Lys)
c.3326G>A (p.Arg1109Lys)
c.3323G>A (p.Arg1108Lys)
c.3290G>A (p.Arg1097Lys)
c.3140G>A (p.Arg1047Lys)
c.2624G>A (p.Arg875Lys)
n.3754G>A
c.3563G>A (p.Arg1188Lys)
c.3395G>A (p.Arg1132Lys)
c.3122G>A (p.Arg1041Lys)
c.2972G>A (p.Arg991Lys)
 ClinVar
2g.208326392G>CCA350115858PIKFYVEc.3581G>C (p.Arg1194Thr)
c.3413G>C (p.Arg1138Thr)
c.3617G>C (p.Arg1206Thr)
c.3614G>C (p.Arg1205Thr)
c.3599G>C (p.Arg1200Thr)
c.3449G>C (p.Arg1150Thr)
c.3446G>C (p.Arg1149Thr)
c.3431G>C (p.Arg1144Thr)
c.3326G>C (p.Arg1109Thr)
c.3323G>C (p.Arg1108Thr)
c.3290G>C (p.Arg1097Thr)
c.3140G>C (p.Arg1047Thr)
c.2624G>C (p.Arg875Thr)
n.3754G>C
c.3563G>C (p.Arg1188Thr)
c.3395G>C (p.Arg1132Thr)
c.3122G>C (p.Arg1041Thr)
c.2972G>C (p.Arg991Thr)
2g.208326392G>TCA350115859PIKFYVEc.3581G>T (p.Arg1194Ile)
c.3413G>T (p.Arg1138Ile)
c.3617G>T (p.Arg1206Ile)
c.3614G>T (p.Arg1205Ile)
c.3599G>T (p.Arg1200Ile)
c.3449G>T (p.Arg1150Ile)
c.3446G>T (p.Arg1149Ile)
c.3431G>T (p.Arg1144Ile)
c.3326G>T (p.Arg1109Ile)
c.3323G>T (p.Arg1108Ile)
c.3290G>T (p.Arg1097Ile)
c.3140G>T (p.Arg1047Ile)
c.2624G>T (p.Arg875Ile)
n.3754G>T
c.3563G>T (p.Arg1188Ile)
c.3395G>T (p.Arg1132Ile)
c.3122G>T (p.Arg1041Ile)
c.2972G>T (p.Arg991Ile)
2g.208326393A=CA1324023488PIKFYVEc.3582A= (p.Arg1194=)
c.3414A= (p.Arg1138=)
c.3618A= (p.Arg1206=)
c.3615A= (p.Arg1205=)
c.3600A= (p.Arg1200=)
c.3450A= (p.Arg1150=)
c.3447A= (p.Arg1149=)
c.3432A= (p.Arg1144=)
c.3327A= (p.Arg1109=)
c.3324A= (p.Arg1108=)
c.3291A= (p.Arg1097=)
c.3141A= (p.Arg1047=)
c.2625A= (p.Arg875=)
n.3755A=
c.3564A= (p.Arg1188=)
c.3396A= (p.Arg1132=)
c.3123A= (p.Arg1041=)
c.2973A= (p.Arg991=)
2g.208326393A>CCA350115860PIKFYVEc.3582A>C (p.Arg1194Ser)
c.3414A>C (p.Arg1138Ser)
c.3618A>C (p.Arg1206Ser)
c.3615A>C (p.Arg1205Ser)
c.3600A>C (p.Arg1200Ser)
c.3450A>C (p.Arg1150Ser)
c.3447A>C (p.Arg1149Ser)
c.3432A>C (p.Arg1144Ser)
c.3327A>C (p.Arg1109Ser)
c.3324A>C (p.Arg1108Ser)
c.3291A>C (p.Arg1097Ser)
c.3141A>C (p.Arg1047Ser)
c.2625A>C (p.Arg875Ser)
n.3755A>C
c.3564A>C (p.Arg1188Ser)
c.3396A>C (p.Arg1132Ser)
c.3123A>C (p.Arg1041Ser)
c.2973A>C (p.Arg991Ser)
2g.208326393A>GCA431117118PIKFYVEc.3582A>G (p.Arg1194=)
c.3414A>G (p.Arg1138=)
c.3618A>G (p.Arg1206=)
c.3615A>G (p.Arg1205=)
c.3600A>G (p.Arg1200=)
c.3450A>G (p.Arg1150=)
c.3447A>G (p.Arg1149=)
c.3432A>G (p.Arg1144=)
c.3327A>G (p.Arg1109=)
c.3324A>G (p.Arg1108=)
c.3291A>G (p.Arg1097=)
c.3141A>G (p.Arg1047=)
c.2625A>G (p.Arg875=)
n.3755A>G
c.3564A>G (p.Arg1188=)
c.3396A>G (p.Arg1132=)
c.3123A>G (p.Arg1041=)
c.2973A>G (p.Arg991=)
 gnomAD v4
2g.208326393A>TCA350115861PIKFYVEc.3582A>T (p.Arg1194Ser)
c.3414A>T (p.Arg1138Ser)
c.3618A>T (p.Arg1206Ser)
c.3615A>T (p.Arg1205Ser)
c.3600A>T (p.Arg1200Ser)
c.3450A>T (p.Arg1150Ser)
c.3447A>T (p.Arg1149Ser)
c.3432A>T (p.Arg1144Ser)
c.3327A>T (p.Arg1109Ser)
c.3324A>T (p.Arg1108Ser)
c.3291A>T (p.Arg1097Ser)
c.3141A>T (p.Arg1047Ser)
c.2625A>T (p.Arg875Ser)
n.3755A>T
c.3564A>T (p.Arg1188Ser)
c.3396A>T (p.Arg1132Ser)
c.3123A>T (p.Arg1041Ser)
c.2973A>T (p.Arg991Ser)
 dbSNP gnomAD v3 gnomAD v4
2g.208326394G>ACA350115862PIKFYVEc.3583G>A (p.Gly1195Arg)
c.3415G>A (p.Gly1139Arg)
c.3619G>A (p.Gly1207Arg)
c.3616G>A (p.Gly1206Arg)
c.3601G>A (p.Gly1201Arg)
c.3451G>A (p.Gly1151Arg)
c.3448G>A (p.Gly1150Arg)
c.3433G>A (p.Gly1145Arg)
c.3328G>A (p.Gly1110Arg)
c.3325G>A (p.Gly1109Arg)
c.3292G>A (p.Gly1098Arg)
c.3142G>A (p.Gly1048Arg)
c.2626G>A (p.Gly876Arg)
n.3756G>A
c.3565G>A (p.Gly1189Arg)
c.3397G>A (p.Gly1133Arg)
c.3124G>A (p.Gly1042Arg)
c.2974G>A (p.Gly992Arg)
 gnomAD v4
2g.208326394G>CCA2080066PIKFYVEc.3583G>C (p.Gly1195Arg)
c.3415G>C (p.Gly1139Arg)
c.3619G>C (p.Gly1207Arg)
c.3616G>C (p.Gly1206Arg)
c.3601G>C (p.Gly1201Arg)
c.3451G>C (p.Gly1151Arg)
c.3448G>C (p.Gly1150Arg)
c.3433G>C (p.Gly1145Arg)
c.3328G>C (p.Gly1110Arg)
c.3325G>C (p.Gly1109Arg)
c.3292G>C (p.Gly1098Arg)
c.3142G>C (p.Gly1048Arg)
c.2626G>C (p.Gly876Arg)
n.3756G>C
c.3565G>C (p.Gly1189Arg)
c.3397G>C (p.Gly1133Arg)
c.3124G>C (p.Gly1042Arg)
c.2974G>C (p.Gly992Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.208326394G=CA1324023489PIKFYVEc.3583G= (p.Gly1195=)
c.3415G= (p.Gly1139=)
c.3619G= (p.Gly1207=)
c.3616G= (p.Gly1206=)
c.3601G= (p.Gly1201=)
c.3451G= (p.Gly1151=)
c.3448G= (p.Gly1150=)
c.3433G= (p.Gly1145=)
c.3328G= (p.Gly1110=)
c.3325G= (p.Gly1109=)
c.3292G= (p.Gly1098=)
c.3142G= (p.Gly1048=)
c.2626G= (p.Gly876=)
n.3756G=
c.3565G= (p.Gly1189=)
c.3397G= (p.Gly1133=)
c.3124G= (p.Gly1042=)
c.2974G= (p.Gly992=)
2g.208326394G>TCA350115863PIKFYVEc.3583G>T (p.Gly1195Trp)
c.3415G>T (p.Gly1139Trp)
c.3619G>T (p.Gly1207Trp)
c.3616G>T (p.Gly1206Trp)
c.3601G>T (p.Gly1201Trp)
c.3451G>T (p.Gly1151Trp)
c.3448G>T (p.Gly1150Trp)
c.3433G>T (p.Gly1145Trp)
c.3328G>T (p.Gly1110Trp)
c.3325G>T (p.Gly1109Trp)
c.3292G>T (p.Gly1098Trp)
c.3142G>T (p.Gly1048Trp)
c.2626G>T (p.Gly876Trp)
n.3756G>T
c.3565G>T (p.Gly1189Trp)
c.3397G>T (p.Gly1133Trp)
c.3124G>T (p.Gly1042Trp)
c.2974G>T (p.Gly992Trp)
2g.208326395G>ACA350115864PIKFYVEc.3584G>A (p.Gly1195Glu)
c.3416G>A (p.Gly1139Glu)
c.3620G>A (p.Gly1207Glu)
c.3617G>A (p.Gly1206Glu)
c.3602G>A (p.Gly1201Glu)
c.3452G>A (p.Gly1151Glu)
c.3449G>A (p.Gly1150Glu)
c.3434G>A (p.Gly1145Glu)
c.3329G>A (p.Gly1110Glu)
c.3326G>A (p.Gly1109Glu)
c.3293G>A (p.Gly1098Glu)
c.3143G>A (p.Gly1048Glu)
c.2627G>A (p.Gly876Glu)
n.3757G>A
c.3566G>A (p.Gly1189Glu)
c.3398G>A (p.Gly1133Glu)
c.3125G>A (p.Gly1042Glu)
c.2975G>A (p.Gly992Glu)
2g.208326395G>CCA350115865PIKFYVEc.3584G>C (p.Gly1195Ala)
c.3416G>C (p.Gly1139Ala)
c.3620G>C (p.Gly1207Ala)
c.3617G>C (p.Gly1206Ala)
c.3602G>C (p.Gly1201Ala)
c.3452G>C (p.Gly1151Ala)
c.3449G>C (p.Gly1150Ala)
c.3434G>C (p.Gly1145Ala)
c.3329G>C (p.Gly1110Ala)
c.3326G>C (p.Gly1109Ala)
c.3293G>C (p.Gly1098Ala)
c.3143G>C (p.Gly1048Ala)
c.2627G>C (p.Gly876Ala)
n.3757G>C
c.3566G>C (p.Gly1189Ala)
c.3398G>C (p.Gly1133Ala)
c.3125G>C (p.Gly1042Ala)
c.2975G>C (p.Gly992Ala)
2g.208326395G>TCA350115866PIKFYVEc.3584G>T (p.Gly1195Val)
c.3416G>T (p.Gly1139Val)
c.3620G>T (p.Gly1207Val)
c.3617G>T (p.Gly1206Val)
c.3602G>T (p.Gly1201Val)
c.3452G>T (p.Gly1151Val)
c.3449G>T (p.Gly1150Val)
c.3434G>T (p.Gly1145Val)
c.3329G>T (p.Gly1110Val)
c.3326G>T (p.Gly1109Val)
c.3293G>T (p.Gly1098Val)
c.3143G>T (p.Gly1048Val)
c.2627G>T (p.Gly876Val)
n.3757G>T
c.3566G>T (p.Gly1189Val)
c.3398G>T (p.Gly1133Val)
c.3125G>T (p.Gly1042Val)
c.2975G>T (p.Gly992Val)
2g.208326396G>ACA431117119PIKFYVEc.3585G>A (p.Gly1195=)
c.3417G>A (p.Gly1139=)
c.3621G>A (p.Gly1207=)
c.3618G>A (p.Gly1206=)
c.3603G>A (p.Gly1201=)
c.3453G>A (p.Gly1151=)
c.3450G>A (p.Gly1150=)
c.3435G>A (p.Gly1145=)
c.3330G>A (p.Gly1110=)
c.3327G>A (p.Gly1109=)
c.3294G>A (p.Gly1098=)
c.3144G>A (p.Gly1048=)
c.2628G>A (p.Gly876=)
n.3758G>A
c.3567G>A (p.Gly1189=)
c.3399G>A (p.Gly1133=)
c.3126G>A (p.Gly1042=)
c.2976G>A (p.Gly992=)
2g.208326396G>CCA431117120PIKFYVEc.3585G>C (p.Gly1195=)
c.3417G>C (p.Gly1139=)
c.3621G>C (p.Gly1207=)
c.3618G>C (p.Gly1206=)
c.3603G>C (p.Gly1201=)
c.3453G>C (p.Gly1151=)
c.3450G>C (p.Gly1150=)
c.3435G>C (p.Gly1145=)
c.3330G>C (p.Gly1110=)
c.3327G>C (p.Gly1109=)
c.3294G>C (p.Gly1098=)
c.3144G>C (p.Gly1048=)
c.2628G>C (p.Gly876=)
n.3758G>C
c.3567G>C (p.Gly1189=)
c.3399G>C (p.Gly1133=)
c.3126G>C (p.Gly1042=)
c.2976G>C (p.Gly992=)
2g.208326396G=CA1324023490PIKFYVEc.3585G= (p.Gly1195=)
c.3417G= (p.Gly1139=)
c.3621G= (p.Gly1207=)
c.3618G= (p.Gly1206=)
c.3603G= (p.Gly1201=)
c.3453G= (p.Gly1151=)
c.3450G= (p.Gly1150=)
c.3435G= (p.Gly1145=)
c.3330G= (p.Gly1110=)
c.3327G= (p.Gly1109=)
c.3294G= (p.Gly1098=)
c.3144G= (p.Gly1048=)
c.2628G= (p.Gly876=)
n.3758G=
c.3567G= (p.Gly1189=)
c.3399G= (p.Gly1133=)
c.3126G= (p.Gly1042=)
c.2976G= (p.Gly992=)
2g.208326396G>TCA64596855PIKFYVEc.3585G>T (p.Gly1195=)
c.3417G>T (p.Gly1139=)
c.3621G>T (p.Gly1207=)
c.3618G>T (p.Gly1206=)
c.3603G>T (p.Gly1201=)
c.3453G>T (p.Gly1151=)
c.3450G>T (p.Gly1150=)
c.3435G>T (p.Gly1145=)
c.3330G>T (p.Gly1110=)
c.3327G>T (p.Gly1109=)
c.3294G>T (p.Gly1098=)
c.3144G>T (p.Gly1048=)
c.2628G>T (p.Gly876=)
n.3758G>T
c.3567G>T (p.Gly1189=)
c.3399G>T (p.Gly1133=)
c.3126G>T (p.Gly1042=)
c.2976G>T (p.Gly992=)
 dbSNP COSMIC
2g.208326397C>ACA350115867PIKFYVEc.3586C>A (p.Leu1196Ile)
c.3418C>A (p.Leu1140Ile)
c.3622C>A (p.Leu1208Ile)
c.3619C>A (p.Leu1207Ile)
c.3604C>A (p.Leu1202Ile)
c.3454C>A (p.Leu1152Ile)
c.3451C>A (p.Leu1151Ile)
c.3436C>A (p.Leu1146Ile)
c.3331C>A (p.Leu1111Ile)
c.3328C>A (p.Leu1110Ile)
c.3295C>A (p.Leu1099Ile)
c.3145C>A (p.Leu1049Ile)
c.2629C>A (p.Leu877Ile)
n.3759C>A
c.3568C>A (p.Leu1190Ile)
c.3400C>A (p.Leu1134Ile)
c.3127C>A (p.Leu1043Ile)
c.2977C>A (p.Leu993Ile)
2g.208326397C=CA1324023491PIKFYVEc.3586C= (p.Leu1196=)
c.3418C= (p.Leu1140=)
c.3622C= (p.Leu1208=)
c.3619C= (p.Leu1207=)
c.3604C= (p.Leu1202=)
c.3454C= (p.Leu1152=)
c.3451C= (p.Leu1151=)
c.3436C= (p.Leu1146=)
c.3331C= (p.Leu1111=)
c.3328C= (p.Leu1110=)
c.3295C= (p.Leu1099=)
c.3145C= (p.Leu1049=)
c.2629C= (p.Leu877=)
n.3759C=
c.3568C= (p.Leu1190=)
c.3400C= (p.Leu1134=)
c.3127C= (p.Leu1043=)
c.2977C= (p.Leu993=)
2g.208326397C>GCA350115869PIKFYVEc.3586C>G (p.Leu1196Val)
c.3418C>G (p.Leu1140Val)
c.3622C>G (p.Leu1208Val)
c.3619C>G (p.Leu1207Val)
c.3604C>G (p.Leu1202Val)
c.3454C>G (p.Leu1152Val)
c.3451C>G (p.Leu1151Val)
c.3436C>G (p.Leu1146Val)
c.3331C>G (p.Leu1111Val)
c.3328C>G (p.Leu1110Val)
c.3295C>G (p.Leu1099Val)
c.3145C>G (p.Leu1049Val)
c.2629C>G (p.Leu877Val)
n.3759C>G
c.3568C>G (p.Leu1190Val)
c.3400C>G (p.Leu1134Val)
c.3127C>G (p.Leu1043Val)
c.2977C>G (p.Leu993Val)
2g.208326397C>TCA350115868PIKFYVEc.3586C>T (p.Leu1196Phe)
c.3418C>T (p.Leu1140Phe)
c.3622C>T (p.Leu1208Phe)
c.3619C>T (p.Leu1207Phe)
c.3604C>T (p.Leu1202Phe)
c.3454C>T (p.Leu1152Phe)
c.3451C>T (p.Leu1151Phe)
c.3436C>T (p.Leu1146Phe)
c.3331C>T (p.Leu1111Phe)
c.3328C>T (p.Leu1110Phe)
c.3295C>T (p.Leu1099Phe)
c.3145C>T (p.Leu1049Phe)
c.2629C>T (p.Leu877Phe)
n.3759C>T
c.3568C>T (p.Leu1190Phe)
c.3400C>T (p.Leu1134Phe)
c.3127C>T (p.Leu1043Phe)
c.2977C>T (p.Leu993Phe)
 gnomAD v4
2g.208326398T>ACA350115870PIKFYVEc.3587T>A (p.Leu1196His)
c.3419T>A (p.Leu1140His)
c.3623T>A (p.Leu1208His)
c.3620T>A (p.Leu1207His)
c.3605T>A (p.Leu1202His)
c.3455T>A (p.Leu1152His)
c.3452T>A (p.Leu1151His)
c.3437T>A (p.Leu1146His)
c.3332T>A (p.Leu1111His)
c.3329T>A (p.Leu1110His)
c.3296T>A (p.Leu1099His)
c.3146T>A (p.Leu1049His)
c.2630T>A (p.Leu877His)
n.3760T>A
c.3569T>A (p.Leu1190His)
c.3401T>A (p.Leu1134His)
c.3128T>A (p.Leu1043His)
c.2978T>A (p.Leu993His)
2g.208326398T>CCA350115871PIKFYVEc.3587T>C (p.Leu1196Pro)
c.3419T>C (p.Leu1140Pro)
c.3623T>C (p.Leu1208Pro)
c.3620T>C (p.Leu1207Pro)
c.3605T>C (p.Leu1202Pro)
c.3455T>C (p.Leu1152Pro)
c.3452T>C (p.Leu1151Pro)
c.3437T>C (p.Leu1146Pro)
c.3332T>C (p.Leu1111Pro)
c.3329T>C (p.Leu1110Pro)
c.3296T>C (p.Leu1099Pro)
c.3146T>C (p.Leu1049Pro)
c.2630T>C (p.Leu877Pro)
n.3760T>C
c.3569T>C (p.Leu1190Pro)
c.3401T>C (p.Leu1134Pro)
c.3128T>C (p.Leu1043Pro)
c.2978T>C (p.Leu993Pro)
2g.208326398T>GCA350115872PIKFYVEc.3587T>G (p.Leu1196Arg)
c.3419T>G (p.Leu1140Arg)
c.3623T>G (p.Leu1208Arg)
c.3620T>G (p.Leu1207Arg)
c.3605T>G (p.Leu1202Arg)
c.3455T>G (p.Leu1152Arg)
c.3452T>G (p.Leu1151Arg)
c.3437T>G (p.Leu1146Arg)
c.3332T>G (p.Leu1111Arg)
c.3329T>G (p.Leu1110Arg)
c.3296T>G (p.Leu1099Arg)
c.3146T>G (p.Leu1049Arg)
c.2630T>G (p.Leu877Arg)
n.3760T>G
c.3569T>G (p.Leu1190Arg)
c.3401T>G (p.Leu1134Arg)
c.3128T>G (p.Leu1043Arg)
c.2978T>G (p.Leu993Arg)
2g.208326399dupCA539389238PIKFYVEc.3588dup (p.Ile1197TyrfsTer4)
c.3420dup (p.Ile1141TyrfsTer4)
c.3624dup (p.Ile1209TyrfsTer4)
c.3621dup (p.Ile1208TyrfsTer4)
c.3606dup (p.Ile1203TyrfsTer4)
c.3456dup (p.Ile1153TyrfsTer4)
c.3453dup (p.Ile1152TyrfsTer4)
c.3438dup (p.Ile1147TyrfsTer4)
c.3333dup (p.Ile1112TyrfsTer4)
c.3330dup (p.Ile1111TyrfsTer4)
c.3297dup (p.Ile1100TyrfsTer4)
c.3147dup (p.Ile1050TyrfsTer4)
c.2631dup (p.Ile878TyrfsTer4)
n.3761dup
c.3570dup (p.Ile1191TyrfsTer4)
c.3402dup (p.Ile1135TyrfsTer4)
c.3129dup (p.Ile1044TyrfsTer4)
c.2979dup (p.Ile994TyrfsTer4)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.208326399T>ACA431117124PIKFYVEc.3588T>A (p.Leu1196=)
c.3420T>A (p.Leu1140=)
c.3624T>A (p.Leu1208=)
c.3621T>A (p.Leu1207=)
c.3606T>A (p.Leu1202=)
c.3456T>A (p.Leu1152=)
c.3453T>A (p.Leu1151=)
c.3438T>A (p.Leu1146=)
c.3333T>A (p.Leu1111=)
c.3330T>A (p.Leu1110=)
c.3297T>A (p.Leu1099=)
c.3147T>A (p.Leu1049=)
c.2631T>A (p.Leu877=)
n.3761T>A
c.3570T>A (p.Leu1190=)
c.3402T>A (p.Leu1134=)
c.3129T>A (p.Leu1043=)
c.2979T>A (p.Leu993=)
2g.208326399T>CCA431117126PIKFYVEc.3588T>C (p.Leu1196=)
c.3420T>C (p.Leu1140=)
c.3624T>C (p.Leu1208=)
c.3621T>C (p.Leu1207=)
c.3606T>C (p.Leu1202=)
c.3456T>C (p.Leu1152=)
c.3453T>C (p.Leu1151=)
c.3438T>C (p.Leu1146=)
c.3333T>C (p.Leu1111=)
c.3330T>C (p.Leu1110=)
c.3297T>C (p.Leu1099=)
c.3147T>C (p.Leu1049=)
c.2631T>C (p.Leu877=)
n.3761T>C
c.3570T>C (p.Leu1190=)
c.3402T>C (p.Leu1134=)
c.3129T>C (p.Leu1043=)
c.2979T>C (p.Leu993=)
 dbSNP
2g.208326399T>GCA2080067PIKFYVEc.3588T>G (p.Leu1196=)
c.3420T>G (p.Leu1140=)
c.3624T>G (p.Leu1208=)
c.3621T>G (p.Leu1207=)
c.3606T>G (p.Leu1202=)
c.3456T>G (p.Leu1152=)
c.3453T>G (p.Leu1151=)
c.3438T>G (p.Leu1146=)
c.3333T>G (p.Leu1111=)
c.3330T>G (p.Leu1110=)
c.3297T>G (p.Leu1099=)
c.3147T>G (p.Leu1049=)
c.2631T>G (p.Leu877=)
n.3761T>G
c.3570T>G (p.Leu1190=)
c.3402T>G (p.Leu1134=)
c.3129T>G (p.Leu1043=)
c.2979T>G (p.Leu993=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.208326399T=CA1324023492PIKFYVEc.3588T= (p.Leu1196=)
c.3420T= (p.Leu1140=)
c.3624T= (p.Leu1208=)
c.3621T= (p.Leu1207=)
c.3606T= (p.Leu1202=)
c.3456T= (p.Leu1152=)
c.3453T= (p.Leu1151=)
c.3438T= (p.Leu1146=)
c.3333T= (p.Leu1111=)
c.3330T= (p.Leu1110=)
c.3297T= (p.Leu1099=)
c.3147T= (p.Leu1049=)
c.2631T= (p.Leu877=)
n.3761T=
c.3570T= (p.Leu1190=)
c.3402T= (p.Leu1134=)
c.3129T= (p.Leu1043=)
c.2979T= (p.Leu993=)
2g.208326400A>CCA350115873PIKFYVEc.3589A>C (p.Ile1197Leu)
c.3421A>C (p.Ile1141Leu)
c.3625A>C (p.Ile1209Leu)
c.3622A>C (p.Ile1208Leu)
c.3607A>C (p.Ile1203Leu)
c.3457A>C (p.Ile1153Leu)
c.3454A>C (p.Ile1152Leu)
c.3439A>C (p.Ile1147Leu)
c.3334A>C (p.Ile1112Leu)
c.3331A>C (p.Ile1111Leu)
c.3298A>C (p.Ile1100Leu)
c.3148A>C (p.Ile1050Leu)
c.2632A>C (p.Ile878Leu)
n.3762A>C
c.3571A>C (p.Ile1191Leu)
c.3403A>C (p.Ile1135Leu)
c.3130A>C (p.Ile1044Leu)
c.2980A>C (p.Ile994Leu)
2g.208326400A>GCA350115874PIKFYVEc.3589A>G (p.Ile1197Val)
c.3421A>G (p.Ile1141Val)
c.3625A>G (p.Ile1209Val)
c.3622A>G (p.Ile1208Val)
c.3607A>G (p.Ile1203Val)
c.3457A>G (p.Ile1153Val)
c.3454A>G (p.Ile1152Val)
c.3439A>G (p.Ile1147Val)
c.3334A>G (p.Ile1112Val)
c.3331A>G (p.Ile1111Val)
c.3298A>G (p.Ile1100Val)
c.3148A>G (p.Ile1050Val)
c.2632A>G (p.Ile878Val)
n.3762A>G
c.3571A>G (p.Ile1191Val)
c.3403A>G (p.Ile1135Val)
c.3130A>G (p.Ile1044Val)
c.2980A>G (p.Ile994Val)
 gnomAD v4
2g.208326400A>TCA350115875PIKFYVEc.3589A>T (p.Ile1197Phe)
c.3421A>T (p.Ile1141Phe)
c.3625A>T (p.Ile1209Phe)
c.3622A>T (p.Ile1208Phe)
c.3607A>T (p.Ile1203Phe)
c.3457A>T (p.Ile1153Phe)
c.3454A>T (p.Ile1152Phe)
c.3439A>T (p.Ile1147Phe)
c.3334A>T (p.Ile1112Phe)
c.3331A>T (p.Ile1111Phe)
c.3298A>T (p.Ile1100Phe)
c.3148A>T (p.Ile1050Phe)
c.2632A>T (p.Ile878Phe)
n.3762A>T
c.3571A>T (p.Ile1191Phe)
c.3403A>T (p.Ile1135Phe)
c.3130A>T (p.Ile1044Phe)
c.2980A>T (p.Ile994Phe)
 gnomAD v4
2g.208326401T>ACA350115876PIKFYVEc.3590T>A (p.Ile1197Asn)
c.3422T>A (p.Ile1141Asn)
c.3626T>A (p.Ile1209Asn)
c.3623T>A (p.Ile1208Asn)
c.3608T>A (p.Ile1203Asn)
c.3458T>A (p.Ile1153Asn)
c.3455T>A (p.Ile1152Asn)
c.3440T>A (p.Ile1147Asn)
c.3335T>A (p.Ile1112Asn)
c.3332T>A (p.Ile1111Asn)
c.3299T>A (p.Ile1100Asn)
c.3149T>A (p.Ile1050Asn)
c.2633T>A (p.Ile878Asn)
n.3763T>A
c.3572T>A (p.Ile1191Asn)
c.3404T>A (p.Ile1135Asn)
c.3131T>A (p.Ile1044Asn)
c.2981T>A (p.Ile994Asn)
2g.208326401T>CCA350115877PIKFYVEc.3590T>C (p.Ile1197Thr)
c.3422T>C (p.Ile1141Thr)
c.3626T>C (p.Ile1209Thr)
c.3623T>C (p.Ile1208Thr)
c.3608T>C (p.Ile1203Thr)
c.3458T>C (p.Ile1153Thr)
c.3455T>C (p.Ile1152Thr)
c.3440T>C (p.Ile1147Thr)
c.3335T>C (p.Ile1112Thr)
c.3332T>C (p.Ile1111Thr)
c.3299T>C (p.Ile1100Thr)
c.3149T>C (p.Ile1050Thr)
c.2633T>C (p.Ile878Thr)
n.3763T>C
c.3572T>C (p.Ile1191Thr)
c.3404T>C (p.Ile1135Thr)
c.3131T>C (p.Ile1044Thr)
c.2981T>C (p.Ile994Thr)
 dbSNP gnomAD v2 gnomAD v4
2g.208326401T>GCA350115878PIKFYVEc.3590T>G (p.Ile1197Ser)
c.3422T>G (p.Ile1141Ser)
c.3626T>G (p.Ile1209Ser)
c.3623T>G (p.Ile1208Ser)
c.3608T>G (p.Ile1203Ser)
c.3458T>G (p.Ile1153Ser)
c.3455T>G (p.Ile1152Ser)
c.3440T>G (p.Ile1147Ser)
c.3335T>G (p.Ile1112Ser)
c.3332T>G (p.Ile1111Ser)
c.3299T>G (p.Ile1100Ser)
c.3149T>G (p.Ile1050Ser)
c.2633T>G (p.Ile878Ser)
n.3763T>G
c.3572T>G (p.Ile1191Ser)
c.3404T>G (p.Ile1135Ser)
c.3131T>G (p.Ile1044Ser)
c.2981T>G (p.Ile994Ser)
2g.208326401T=CA1324023493PIKFYVEc.3590T= (p.Ile1197=)
c.3422T= (p.Ile1141=)
c.3626T= (p.Ile1209=)
c.3623T= (p.Ile1208=)
c.3608T= (p.Ile1203=)
c.3458T= (p.Ile1153=)
c.3455T= (p.Ile1152=)
c.3440T= (p.Ile1147=)
c.3335T= (p.Ile1112=)
c.3332T= (p.Ile1111=)
c.3299T= (p.Ile1100=)
c.3149T= (p.Ile1050=)
c.2633T= (p.Ile878=)
n.3763T=
c.3572T= (p.Ile1191=)
c.3404T= (p.Ile1135=)
c.3131T= (p.Ile1044=)
c.2981T= (p.Ile994=)
2g.208326402T>ACA431117127PIKFYVEc.3591T>A (p.Ile1197=)
c.3423T>A (p.Ile1141=)
c.3627T>A (p.Ile1209=)
c.3624T>A (p.Ile1208=)
c.3609T>A (p.Ile1203=)
c.3459T>A (p.Ile1153=)
c.3456T>A (p.Ile1152=)
c.3441T>A (p.Ile1147=)
c.3336T>A (p.Ile1112=)
c.3333T>A (p.Ile1111=)
c.3300T>A (p.Ile1100=)
c.3150T>A (p.Ile1050=)
c.2634T>A (p.Ile878=)
n.3764T>A
c.3573T>A (p.Ile1191=)
c.3405T>A (p.Ile1135=)
c.3132T>A (p.Ile1044=)
c.2982T>A (p.Ile994=)
2g.208326402T>CCA431117128PIKFYVEc.3591T>C (p.Ile1197=)
c.3423T>C (p.Ile1141=)
c.3627T>C (p.Ile1209=)
c.3624T>C (p.Ile1208=)
c.3609T>C (p.Ile1203=)
c.3459T>C (p.Ile1153=)
c.3456T>C (p.Ile1152=)
c.3441T>C (p.Ile1147=)
c.3336T>C (p.Ile1112=)
c.3333T>C (p.Ile1111=)
c.3300T>C (p.Ile1100=)
c.3150T>C (p.Ile1050=)
c.2634T>C (p.Ile878=)
n.3764T>C
c.3573T>C (p.Ile1191=)
c.3405T>C (p.Ile1135=)
c.3132T>C (p.Ile1044=)
c.2982T>C (p.Ile994=)
2g.208326402T>GCA2080068PIKFYVEc.3591T>G (p.Ile1197Met)
c.3423T>G (p.Ile1141Met)
c.3627T>G (p.Ile1209Met)
c.3624T>G (p.Ile1208Met)
c.3609T>G (p.Ile1203Met)
c.3459T>G (p.Ile1153Met)
c.3456T>G (p.Ile1152Met)
c.3441T>G (p.Ile1147Met)
c.3336T>G (p.Ile1112Met)
c.3333T>G (p.Ile1111Met)
c.3300T>G (p.Ile1100Met)
c.3150T>G (p.Ile1050Met)
c.2634T>G (p.Ile878Met)
n.3764T>G
c.3573T>G (p.Ile1191Met)
c.3405T>G (p.Ile1135Met)
c.3132T>G (p.Ile1044Met)
c.2982T>G (p.Ile994Met)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.208326402T=CA1324023494PIKFYVEc.3591T= (p.Ile1197=)
c.3423T= (p.Ile1141=)
c.3627T= (p.Ile1209=)
c.3624T= (p.Ile1208=)
c.3609T= (p.Ile1203=)
c.3459T= (p.Ile1153=)
c.3456T= (p.Ile1152=)
c.3441T= (p.Ile1147=)
c.3336T= (p.Ile1112=)
c.3333T= (p.Ile1111=)
c.3300T= (p.Ile1100=)
c.3150T= (p.Ile1050=)
c.2634T= (p.Ile878=)
n.3764T=
c.3573T= (p.Ile1191=)
c.3405T= (p.Ile1135=)
c.3132T= (p.Ile1044=)
c.2982T= (p.Ile994=)
2g.208326402_208326403insTGCA2662880257PIKFYVEc.3591_3592insTG (p.Leu1198CysfsTer2)
c.3423_3424insTG (p.Leu1142CysfsTer2)
c.3627_3628insTG (p.Leu1210CysfsTer2)
c.3624_3625insTG (p.Leu1209CysfsTer2)
c.3609_3610insTG (p.Leu1204CysfsTer2)
c.3459_3460insTG (p.Leu1154CysfsTer2)
c.3456_3457insTG (p.Leu1153CysfsTer2)
c.3441_3442insTG (p.Leu1148CysfsTer2)
c.3336_3337insTG (p.Leu1113CysfsTer2)
c.3333_3334insTG (p.Leu1112CysfsTer2)
c.3300_3301insTG (p.Leu1101CysfsTer2)
c.3150_3151insTG (p.Leu1051CysfsTer2)
c.2634_2635insTG (p.Leu879CysfsTer2)
n.3764_3765insTG
c.3573_3574insTG (p.Leu1192CysfsTer2)
c.3405_3406insTG (p.Leu1136CysfsTer2)
c.3132_3133insTG (p.Leu1045CysfsTer2)
c.2982_2983insTG (p.Leu995CysfsTer2)
 gnomAD v4
2g.208326403C>ACA350115879PIKFYVEc.3592C>A (p.Leu1198Met)
c.3424C>A (p.Leu1142Met)
c.3628C>A (p.Leu1210Met)
c.3625C>A (p.Leu1209Met)
c.3610C>A (p.Leu1204Met)
c.3460C>A (p.Leu1154Met)
c.3457C>A (p.Leu1153Met)
c.3442C>A (p.Leu1148Met)
c.3337C>A (p.Leu1113Met)
c.3334C>A (p.Leu1112Met)
c.3301C>A (p.Leu1101Met)
c.3151C>A (p.Leu1051Met)
c.2635C>A (p.Leu879Met)
n.3765C>A
c.3574C>A (p.Leu1192Met)
c.3406C>A (p.Leu1136Met)
c.3133C>A (p.Leu1045Met)
c.2983C>A (p.Leu995Met)
 gnomAD v4
2g.208326403C>GCA350115880PIKFYVEc.3592C>G (p.Leu1198Val)
c.3424C>G (p.Leu1142Val)
c.3628C>G (p.Leu1210Val)
c.3625C>G (p.Leu1209Val)
c.3610C>G (p.Leu1204Val)
c.3460C>G (p.Leu1154Val)
c.3457C>G (p.Leu1153Val)
c.3442C>G (p.Leu1148Val)
c.3337C>G (p.Leu1113Val)
c.3334C>G (p.Leu1112Val)
c.3301C>G (p.Leu1101Val)
c.3151C>G (p.Leu1051Val)
c.2635C>G (p.Leu879Val)
n.3765C>G
c.3574C>G (p.Leu1192Val)
c.3406C>G (p.Leu1136Val)
c.3133C>G (p.Leu1045Val)
c.2983C>G (p.Leu995Val)
 gnomAD v4
2g.208326403C>TCA431117129PIKFYVEc.3592C>T (p.Leu1198=)
c.3424C>T (p.Leu1142=)
c.3628C>T (p.Leu1210=)
c.3625C>T (p.Leu1209=)
c.3610C>T (p.Leu1204=)
c.3460C>T (p.Leu1154=)
c.3457C>T (p.Leu1153=)
c.3442C>T (p.Leu1148=)
c.3337C>T (p.Leu1113=)
c.3334C>T (p.Leu1112=)
c.3301C>T (p.Leu1101=)
c.3151C>T (p.Leu1051=)
c.2635C>T (p.Leu879=)
n.3765C>T
c.3574C>T (p.Leu1192=)
c.3406C>T (p.Leu1136=)
c.3133C>T (p.Leu1045=)
c.2983C>T (p.Leu995=)
2g.208326404T>ACA350115883PIKFYVEc.3593T>A (p.Leu1198Gln)
c.3425T>A (p.Leu1142Gln)
c.3629T>A (p.Leu1210Gln)
c.3626T>A (p.Leu1209Gln)
c.3611T>A (p.Leu1204Gln)
c.3461T>A (p.Leu1154Gln)
c.3458T>A (p.Leu1153Gln)
c.3443T>A (p.Leu1148Gln)
c.3338T>A (p.Leu1113Gln)
c.3335T>A (p.Leu1112Gln)
c.3302T>A (p.Leu1101Gln)
c.3152T>A (p.Leu1051Gln)
c.2636T>A (p.Leu879Gln)
n.3766T>A
c.3575T>A (p.Leu1192Gln)
c.3407T>A (p.Leu1136Gln)
c.3134T>A (p.Leu1045Gln)
c.2984T>A (p.Leu995Gln)
2g.208326404T>CCA350115881PIKFYVEc.3593T>C (p.Leu1198Pro)
c.3425T>C (p.Leu1142Pro)
c.3629T>C (p.Leu1210Pro)
c.3626T>C (p.Leu1209Pro)
c.3611T>C (p.Leu1204Pro)
c.3461T>C (p.Leu1154Pro)
c.3458T>C (p.Leu1153Pro)
c.3443T>C (p.Leu1148Pro)
c.3338T>C (p.Leu1113Pro)
c.3335T>C (p.Leu1112Pro)
c.3302T>C (p.Leu1101Pro)
c.3152T>C (p.Leu1051Pro)
c.2636T>C (p.Leu879Pro)
n.3766T>C
c.3575T>C (p.Leu1192Pro)
c.3407T>C (p.Leu1136Pro)
c.3134T>C (p.Leu1045Pro)
c.2984T>C (p.Leu995Pro)
2g.208326404T>GCA350115882PIKFYVEc.3593T>G (p.Leu1198Arg)
c.3425T>G (p.Leu1142Arg)
c.3629T>G (p.Leu1210Arg)
c.3626T>G (p.Leu1209Arg)
c.3611T>G (p.Leu1204Arg)
c.3461T>G (p.Leu1154Arg)
c.3458T>G (p.Leu1153Arg)
c.3443T>G (p.Leu1148Arg)
c.3338T>G (p.Leu1113Arg)
c.3335T>G (p.Leu1112Arg)
c.3302T>G (p.Leu1101Arg)
c.3152T>G (p.Leu1051Arg)
c.2636T>G (p.Leu879Arg)
n.3766T>G
c.3575T>G (p.Leu1192Arg)
c.3407T>G (p.Leu1136Arg)
c.3134T>G (p.Leu1045Arg)
c.2984T>G (p.Leu995Arg)
 COSMIC
2g.208326404_208326405insTATCATTCTCAACTAGAAATATCCTTTCTCATGGATCA2662880258PIKFYVEc.3593_3594insTATCATTCTCAACTAGAAATATCCTTTCTCATGGAT (p.Leu1199IlefsTer5)
c.3425_3426insTATCATTCTCAACTAGAAATATCCTTTCTCATGGAT (p.Leu1143IlefsTer5)
c.3629_3630insTATCATTCTCAACTAGAAATATCCTTTCTCATGGAT (p.Leu1211IlefsTer5)
c.3626_3627insTATCATTCTCAACTAGAAATATCCTTTCTCATGGAT (p.Leu1210IlefsTer5)
c.3611_3612insTATCATTCTCAACTAGAAATATCCTTTCTCATGGAT (p.Leu1205IlefsTer5)
c.3461_3462insTATCATTCTCAACTAGAAATATCCTTTCTCATGGAT (p.Leu1155IlefsTer5)
c.3458_3459insTATCATTCTCAACTAGAAATATCCTTTCTCATGGAT (p.Leu1154IlefsTer5)
c.3443_3444insTATCATTCTCAACTAGAAATATCCTTTCTCATGGAT (p.Leu1149IlefsTer5)
c.3338_3339insTATCATTCTCAACTAGAAATATCCTTTCTCATGGAT (p.Leu1114IlefsTer5)
c.3335_3336insTATCATTCTCAACTAGAAATATCCTTTCTCATGGAT (p.Leu1113IlefsTer5)
c.3302_3303insTATCATTCTCAACTAGAAATATCCTTTCTCATGGAT (p.Leu1102IlefsTer5)
c.3152_3153insTATCATTCTCAACTAGAAATATCCTTTCTCATGGAT (p.Leu1052IlefsTer5)
c.2636_2637insTATCATTCTCAACTAGAAATATCCTTTCTCATGGAT (p.Leu880IlefsTer5)
n.3766_3767insTATCATTCTCAACTAGAAATATCCTTTCTCATGGAT
c.3575_3576insTATCATTCTCAACTAGAAATATCCTTTCTCATGGAT (p.Leu1193IlefsTer5)
c.3407_3408insTATCATTCTCAACTAGAAATATCCTTTCTCATGGAT (p.Leu1137IlefsTer5)
c.3134_3135insTATCATTCTCAACTAGAAATATCCTTTCTCATGGAT (p.Leu1046IlefsTer5)
c.2984_2985insTATCATTCTCAACTAGAAATATCCTTTCTCATGGAT (p.Leu996IlefsTer5)
 gnomAD v4
2g.208326405G>ACA431117131PIKFYVEc.3594G>A (p.Leu1198=)
c.3426G>A (p.Leu1142=)
c.3630G>A (p.Leu1210=)
c.3627G>A (p.Leu1209=)
c.3612G>A (p.Leu1204=)
c.3462G>A (p.Leu1154=)
c.3459G>A (p.Leu1153=)
c.3444G>A (p.Leu1148=)
c.3339G>A (p.Leu1113=)
c.3336G>A (p.Leu1112=)
c.3303G>A (p.Leu1101=)
c.3153G>A (p.Leu1051=)
c.2637G>A (p.Leu879=)
n.3767G>A
c.3576G>A (p.Leu1192=)
c.3408G>A (p.Leu1136=)
c.3135G>A (p.Leu1045=)
c.2985G>A (p.Leu995=)
 gnomAD v4
2g.208326405G>CCA431117132PIKFYVEc.3594G>C (p.Leu1198=)
c.3426G>C (p.Leu1142=)
c.3630G>C (p.Leu1210=)
c.3627G>C (p.Leu1209=)
c.3612G>C (p.Leu1204=)
c.3462G>C (p.Leu1154=)
c.3459G>C (p.Leu1153=)
c.3444G>C (p.Leu1148=)
c.3339G>C (p.Leu1113=)
c.3336G>C (p.Leu1112=)
c.3303G>C (p.Leu1101=)
c.3153G>C (p.Leu1051=)
c.2637G>C (p.Leu879=)
n.3767G>C
c.3576G>C (p.Leu1192=)
c.3408G>C (p.Leu1136=)
c.3135G>C (p.Leu1045=)
c.2985G>C (p.Leu995=)
 gnomAD v4
2g.208326405G=CA1324023495PIKFYVEc.3594G= (p.Leu1198=)
c.3426G= (p.Leu1142=)
c.3630G= (p.Leu1210=)
c.3627G= (p.Leu1209=)
c.3612G= (p.Leu1204=)
c.3462G= (p.Leu1154=)
c.3459G= (p.Leu1153=)
c.3444G= (p.Leu1148=)
c.3339G= (p.Leu1113=)
c.3336G= (p.Leu1112=)
c.3303G= (p.Leu1101=)
c.3153G= (p.Leu1051=)
c.2637G= (p.Leu879=)
n.3767G=
c.3576G= (p.Leu1192=)
c.3408G= (p.Leu1136=)
c.3135G= (p.Leu1045=)
c.2985G= (p.Leu995=)
2g.208326405G>TCA2080069PIKFYVEc.3594G>T (p.Leu1198=)
c.3426G>T (p.Leu1142=)
c.3630G>T (p.Leu1210=)
c.3627G>T (p.Leu1209=)
c.3612G>T (p.Leu1204=)
c.3462G>T (p.Leu1154=)
c.3459G>T (p.Leu1153=)
c.3444G>T (p.Leu1148=)
c.3339G>T (p.Leu1113=)
c.3336G>T (p.Leu1112=)
c.3303G>T (p.Leu1101=)
c.3153G>T (p.Leu1051=)
c.2637G>T (p.Leu879=)
n.3767G>T
c.3576G>T (p.Leu1192=)
c.3408G>T (p.Leu1136=)
c.3135G>T (p.Leu1045=)
c.2985G>T (p.Leu995=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.208326406A>CCA350115884PIKFYVEc.3595A>C (p.Ser1199Arg)
c.3427A>C (p.Ser1143Arg)
c.3631A>C (p.Ser1211Arg)
c.3628A>C (p.Ser1210Arg)
c.3613A>C (p.Ser1205Arg)
c.3463A>C (p.Ser1155Arg)
c.3460A>C (p.Ser1154Arg)
c.3445A>C (p.Ser1149Arg)
c.3340A>C (p.Ser1114Arg)
c.3337A>C (p.Ser1113Arg)
c.3304A>C (p.Ser1102Arg)
c.3154A>C (p.Ser1052Arg)
c.2638A>C (p.Ser880Arg)
n.3768A>C
c.3577A>C (p.Ser1193Arg)
c.3409A>C (p.Ser1137Arg)
c.3136A>C (p.Ser1046Arg)
c.2986A>C (p.Ser996Arg)
2g.208326406A>GCA350115885PIKFYVEc.3595A>G (p.Ser1199Gly)
c.3427A>G (p.Ser1143Gly)
c.3631A>G (p.Ser1211Gly)
c.3628A>G (p.Ser1210Gly)
c.3613A>G (p.Ser1205Gly)
c.3463A>G (p.Ser1155Gly)
c.3460A>G (p.Ser1154Gly)
c.3445A>G (p.Ser1149Gly)
c.3340A>G (p.Ser1114Gly)
c.3337A>G (p.Ser1113Gly)
c.3304A>G (p.Ser1102Gly)
c.3154A>G (p.Ser1052Gly)
c.2638A>G (p.Ser880Gly)
n.3768A>G
c.3577A>G (p.Ser1193Gly)
c.3409A>G (p.Ser1137Gly)
c.3136A>G (p.Ser1046Gly)
c.2986A>G (p.Ser996Gly)
2g.208326406A>TCA350115886PIKFYVEc.3595A>T (p.Ser1199Cys)
c.3427A>T (p.Ser1143Cys)
c.3631A>T (p.Ser1211Cys)
c.3628A>T (p.Ser1210Cys)
c.3613A>T (p.Ser1205Cys)
c.3463A>T (p.Ser1155Cys)
c.3460A>T (p.Ser1154Cys)
c.3445A>T (p.Ser1149Cys)
c.3340A>T (p.Ser1114Cys)
c.3337A>T (p.Ser1113Cys)
c.3304A>T (p.Ser1102Cys)
c.3154A>T (p.Ser1052Cys)
c.2638A>T (p.Ser880Cys)
n.3768A>T
c.3577A>T (p.Ser1193Cys)
c.3409A>T (p.Ser1137Cys)
c.3136A>T (p.Ser1046Cys)
c.2986A>T (p.Ser996Cys)
2g.208326407G>ACA350115887PIKFYVEc.3596G>A (p.Ser1199Asn)
c.3428G>A (p.Ser1143Asn)
c.3632G>A (p.Ser1211Asn)
c.3629G>A (p.Ser1210Asn)
c.3614G>A (p.Ser1205Asn)
c.3464G>A (p.Ser1155Asn)
c.3461G>A (p.Ser1154Asn)
c.3446G>A (p.Ser1149Asn)
c.3341G>A (p.Ser1114Asn)
c.3338G>A (p.Ser1113Asn)
c.3305G>A (p.Ser1102Asn)
c.3155G>A (p.Ser1052Asn)
c.2639G>A (p.Ser880Asn)
n.3769G>A
c.3578G>A (p.Ser1193Asn)
c.3410G>A (p.Ser1137Asn)
c.3137G>A (p.Ser1046Asn)
c.2987G>A (p.Ser996Asn)
 gnomAD v4
2g.208326407G>CCA350115888PIKFYVEc.3596G>C (p.Ser1199Thr)
c.3428G>C (p.Ser1143Thr)
c.3632G>C (p.Ser1211Thr)
c.3629G>C (p.Ser1210Thr)
c.3614G>C (p.Ser1205Thr)
c.3464G>C (p.Ser1155Thr)
c.3461G>C (p.Ser1154Thr)
c.3446G>C (p.Ser1149Thr)
c.3341G>C (p.Ser1114Thr)
c.3338G>C (p.Ser1113Thr)
c.3305G>C (p.Ser1102Thr)
c.3155G>C (p.Ser1052Thr)
c.2639G>C (p.Ser880Thr)
n.3769G>C
c.3578G>C (p.Ser1193Thr)
c.3410G>C (p.Ser1137Thr)
c.3137G>C (p.Ser1046Thr)
c.2987G>C (p.Ser996Thr)
2g.208326407G>TCA350115889PIKFYVEc.3596G>T (p.Ser1199Ile)
c.3428G>T (p.Ser1143Ile)
c.3632G>T (p.Ser1211Ile)
c.3629G>T (p.Ser1210Ile)
c.3614G>T (p.Ser1205Ile)
c.3464G>T (p.Ser1155Ile)
c.3461G>T (p.Ser1154Ile)
c.3446G>T (p.Ser1149Ile)
c.3341G>T (p.Ser1114Ile)
c.3338G>T (p.Ser1113Ile)
c.3305G>T (p.Ser1102Ile)
c.3155G>T (p.Ser1052Ile)
c.2639G>T (p.Ser880Ile)
n.3769G>T
c.3578G>T (p.Ser1193Ile)
c.3410G>T (p.Ser1137Ile)
c.3137G>T (p.Ser1046Ile)
c.2987G>T (p.Ser996Ile)
2g.208326408T>ACA350115890PIKFYVEc.3597T>A (p.Ser1199Arg)
c.3429T>A (p.Ser1143Arg)
c.3633T>A (p.Ser1211Arg)
c.3630T>A (p.Ser1210Arg)
c.3615T>A (p.Ser1205Arg)
c.3465T>A (p.Ser1155Arg)
c.3462T>A (p.Ser1154Arg)
c.3447T>A (p.Ser1149Arg)
c.3342T>A (p.Ser1114Arg)
c.3339T>A (p.Ser1113Arg)
c.3306T>A (p.Ser1102Arg)
c.3156T>A (p.Ser1052Arg)
c.2640T>A (p.Ser880Arg)
n.3770T>A
c.3579T>A (p.Ser1193Arg)
c.3411T>A (p.Ser1137Arg)
c.3138T>A (p.Ser1046Arg)
c.2988T>A (p.Ser996Arg)
2g.208326408T>CCA431117135PIKFYVEc.3597T>C (p.Ser1199=)
c.3429T>C (p.Ser1143=)
c.3633T>C (p.Ser1211=)
c.3630T>C (p.Ser1210=)
c.3615T>C (p.Ser1205=)
c.3465T>C (p.Ser1155=)
c.3462T>C (p.Ser1154=)
c.3447T>C (p.Ser1149=)
c.3342T>C (p.Ser1114=)
c.3339T>C (p.Ser1113=)
c.3306T>C (p.Ser1102=)
c.3156T>C (p.Ser1052=)
c.2640T>C (p.Ser880=)
n.3770T>C
c.3579T>C (p.Ser1193=)
c.3411T>C (p.Ser1137=)
c.3138T>C (p.Ser1046=)
c.2988T>C (p.Ser996=)
2g.208326408T>GCA350115891PIKFYVEc.3597T>G (p.Ser1199Arg)
c.3429T>G (p.Ser1143Arg)
c.3633T>G (p.Ser1211Arg)
c.3630T>G (p.Ser1210Arg)
c.3615T>G (p.Ser1205Arg)
c.3465T>G (p.Ser1155Arg)
c.3462T>G (p.Ser1154Arg)
c.3447T>G (p.Ser1149Arg)
c.3342T>G (p.Ser1114Arg)
c.3339T>G (p.Ser1113Arg)
c.3306T>G (p.Ser1102Arg)
c.3156T>G (p.Ser1052Arg)
c.2640T>G (p.Ser880Arg)
n.3770T>G
c.3579T>G (p.Ser1193Arg)
c.3411T>G (p.Ser1137Arg)
c.3138T>G (p.Ser1046Arg)
c.2988T>G (p.Ser996Arg)
2g.208326409G>ACA350115892PIKFYVEc.3598G>A (p.Asp1200Asn)
c.3430G>A (p.Asp1144Asn)
c.3634G>A (p.Asp1212Asn)
c.3631G>A (p.Asp1211Asn)
c.3616G>A (p.Asp1206Asn)
c.3466G>A (p.Asp1156Asn)
c.3463G>A (p.Asp1155Asn)
c.3448G>A (p.Asp1150Asn)
c.3343G>A (p.Asp1115Asn)
c.3340G>A (p.Asp1114Asn)
c.3307G>A (p.Asp1103Asn)
c.3157G>A (p.Asp1053Asn)
c.2641G>A (p.Asp881Asn)
n.3771G>A
c.3580G>A (p.Asp1194Asn)
c.3412G>A (p.Asp1138Asn)
c.3139G>A (p.Asp1047Asn)
c.2989G>A (p.Asp997Asn)
2g.208326409G>CCA350115893PIKFYVEc.3598G>C (p.Asp1200His)
c.3430G>C (p.Asp1144His)
c.3634G>C (p.Asp1212His)
c.3631G>C (p.Asp1211His)
c.3616G>C (p.Asp1206His)
c.3466G>C (p.Asp1156His)
c.3463G>C (p.Asp1155His)
c.3448G>C (p.Asp1150His)
c.3343G>C (p.Asp1115His)
c.3340G>C (p.Asp1114His)
c.3307G>C (p.Asp1103His)
c.3157G>C (p.Asp1053His)
c.2641G>C (p.Asp881His)
n.3771G>C
c.3580G>C (p.Asp1194His)
c.3412G>C (p.Asp1138His)
c.3139G>C (p.Asp1047His)
c.2989G>C (p.Asp997His)
2g.208326409G>TCA350115894PIKFYVEc.3598G>T (p.Asp1200Tyr)
c.3430G>T (p.Asp1144Tyr)
c.3634G>T (p.Asp1212Tyr)
c.3631G>T (p.Asp1211Tyr)
c.3616G>T (p.Asp1206Tyr)
c.3466G>T (p.Asp1156Tyr)
c.3463G>T (p.Asp1155Tyr)
c.3448G>T (p.Asp1150Tyr)
c.3343G>T (p.Asp1115Tyr)
c.3340G>T (p.Asp1114Tyr)
c.3307G>T (p.Asp1103Tyr)
c.3157G>T (p.Asp1053Tyr)
c.2641G>T (p.Asp881Tyr)
n.3771G>T
c.3580G>T (p.Asp1194Tyr)
c.3412G>T (p.Asp1138Tyr)
c.3139G>T (p.Asp1047Tyr)
c.2989G>T (p.Asp997Tyr)
2g.208326410A>CCA350115896PIKFYVEc.3599A>C (p.Asp1200Ala)
c.3431A>C (p.Asp1144Ala)
c.3635A>C (p.Asp1212Ala)
c.3632A>C (p.Asp1211Ala)
c.3617A>C (p.Asp1206Ala)
c.3467A>C (p.Asp1156Ala)
c.3464A>C (p.Asp1155Ala)
c.3449A>C (p.Asp1150Ala)
c.3344A>C (p.Asp1115Ala)
c.3341A>C (p.Asp1114Ala)
c.3308A>C (p.Asp1103Ala)
c.3158A>C (p.Asp1053Ala)
c.2642A>C (p.Asp881Ala)
n.3772A>C
c.3581A>C (p.Asp1194Ala)
c.3413A>C (p.Asp1138Ala)
c.3140A>C (p.Asp1047Ala)
c.2990A>C (p.Asp997Ala)
2g.208326410A>GCA350115897PIKFYVEc.3599A>G (p.Asp1200Gly)
c.3431A>G (p.Asp1144Gly)
c.3635A>G (p.Asp1212Gly)
c.3632A>G (p.Asp1211Gly)
c.3617A>G (p.Asp1206Gly)
c.3467A>G (p.Asp1156Gly)
c.3464A>G (p.Asp1155Gly)
c.3449A>G (p.Asp1150Gly)
c.3344A>G (p.Asp1115Gly)
c.3341A>G (p.Asp1114Gly)
c.3308A>G (p.Asp1103Gly)
c.3158A>G (p.Asp1053Gly)
c.2642A>G (p.Asp881Gly)
n.3772A>G
c.3581A>G (p.Asp1194Gly)
c.3413A>G (p.Asp1138Gly)
c.3140A>G (p.Asp1047Gly)
c.2990A>G (p.Asp997Gly)
2g.208326410A>TCA350115895PIKFYVEc.3599A>T (p.Asp1200Val)
c.3431A>T (p.Asp1144Val)
c.3635A>T (p.Asp1212Val)
c.3632A>T (p.Asp1211Val)
c.3617A>T (p.Asp1206Val)
c.3467A>T (p.Asp1156Val)
c.3464A>T (p.Asp1155Val)
c.3449A>T (p.Asp1150Val)
c.3344A>T (p.Asp1115Val)
c.3341A>T (p.Asp1114Val)
c.3308A>T (p.Asp1103Val)
c.3158A>T (p.Asp1053Val)
c.2642A>T (p.Asp881Val)
n.3772A>T
c.3581A>T (p.Asp1194Val)
c.3413A>T (p.Asp1138Val)
c.3140A>T (p.Asp1047Val)
c.2990A>T (p.Asp997Val)
2g.208326411T>ACA350115898PIKFYVEc.3600T>A (p.Asp1200Glu)
c.3432T>A (p.Asp1144Glu)
c.3636T>A (p.Asp1212Glu)
c.3633T>A (p.Asp1211Glu)
c.3618T>A (p.Asp1206Glu)
c.3468T>A (p.Asp1156Glu)
c.3465T>A (p.Asp1155Glu)
c.3450T>A (p.Asp1150Glu)
c.3345T>A (p.Asp1115Glu)
c.3342T>A (p.Asp1114Glu)
c.3309T>A (p.Asp1103Glu)
c.3159T>A (p.Asp1053Glu)
c.2643T>A (p.Asp881Glu)
n.3773T>A
c.3582T>A (p.Asp1194Glu)
c.3414T>A (p.Asp1138Glu)
c.3141T>A (p.Asp1047Glu)
c.2991T>A (p.Asp997Glu)
2g.208326411T>CCA2080070PIKFYVEc.3600T>C (p.Asp1200=)
c.3432T>C (p.Asp1144=)
c.3636T>C (p.Asp1212=)
c.3633T>C (p.Asp1211=)
c.3618T>C (p.Asp1206=)
c.3468T>C (p.Asp1156=)
c.3465T>C (p.Asp1155=)
c.3450T>C (p.Asp1150=)
c.3345T>C (p.Asp1115=)
c.3342T>C (p.Asp1114=)
c.3309T>C (p.Asp1103=)
c.3159T>C (p.Asp1053=)
c.2643T>C (p.Asp881=)
n.3773T>C
c.3582T>C (p.Asp1194=)
c.3414T>C (p.Asp1138=)
c.3141T>C (p.Asp1047=)
c.2991T>C (p.Asp997=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.208326411T>GCA350115899PIKFYVEc.3600T>G (p.Asp1200Glu)
c.3432T>G (p.Asp1144Glu)
c.3636T>G (p.Asp1212Glu)
c.3633T>G (p.Asp1211Glu)
c.3618T>G (p.Asp1206Glu)
c.3468T>G (p.Asp1156Glu)
c.3465T>G (p.Asp1155Glu)
c.3450T>G (p.Asp1150Glu)
c.3345T>G (p.Asp1115Glu)
c.3342T>G (p.Asp1114Glu)
c.3309T>G (p.Asp1103Glu)
c.3159T>G (p.Asp1053Glu)
c.2643T>G (p.Asp881Glu)
n.3773T>G
c.3582T>G (p.Asp1194Glu)
c.3414T>G (p.Asp1138Glu)
c.3141T>G (p.Asp1047Glu)
c.2991T>G (p.Asp997Glu)
2g.208326411T=CA1324023496PIKFYVEc.3600T= (p.Asp1200=)
c.3432T= (p.Asp1144=)
c.3636T= (p.Asp1212=)
c.3633T= (p.Asp1211=)
c.3618T= (p.Asp1206=)
c.3468T= (p.Asp1156=)
c.3465T= (p.Asp1155=)
c.3450T= (p.Asp1150=)
c.3345T= (p.Asp1115=)
c.3342T= (p.Asp1114=)
c.3309T= (p.Asp1103=)
c.3159T= (p.Asp1053=)
c.2643T= (p.Asp881=)
n.3773T=
c.3582T= (p.Asp1194=)
c.3414T= (p.Asp1138=)
c.3141T= (p.Asp1047=)
c.2991T= (p.Asp997=)

Number of alleles fetched