Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.16986856_16986878delCA645512534ATP13A2c.3163_3185del (p.Ser1055CysfsTer?)
c.3031_3053del (p.Ser1011CysfsTer17)
c.3148_3170del (p.Ser1050CysfsTer?)
n.1037_1059del
c.751_773del (p.Ser251CysfsTer17)
c.3163_3185del (p.Ser1055CysfsTer17)
c.3160_3182del (p.Ser1054CysfsTer17)
c.3148_3170del (p.Ser1050CysfsTer17)
c.3136_3158del (p.Ser1046CysfsTer17)
c.3103_3125del (p.Ser1035CysfsTer17)
c.3046_3068del (p.Ser1016CysfsTer17)
c.3145_3167del (p.Ser1049CysfsTer17)
c.3121_3143del (p.Ser1041CysfsTer17)
c.2956_2978del (p.Ser986CysfsTer17)
c.3145_3167del (p.Ser1049CysfsTer?)
c.3121_3143del (p.Ser1041CysfsTer?)
c.3118_3140del (p.Ser1040CysfsTer?)
c.3046_3068del (p.Ser1016CysfsTer?)
c.3031_3053del (p.Ser1011CysfsTer?)
c.2956_2978del (p.Ser986CysfsTer?)
 COSMIC COSMIC
1g.16986858A>CCA338233465ATP13A2c.3182T>G (p.Leu1061Arg)
c.3050T>G (p.Leu1017Arg)
c.3167T>G (p.Leu1056Arg)
n.1056T>G
c.770T>G (p.Leu257Arg)
c.3179T>G (p.Leu1060Arg)
c.3155T>G (p.Leu1052Arg)
c.3122T>G (p.Leu1041Arg)
c.3065T>G (p.Leu1022Arg)
c.3164T>G (p.Leu1055Arg)
c.3140T>G (p.Leu1047Arg)
c.2975T>G (p.Leu992Arg)
c.3137T>G (p.Leu1046Arg)
1g.16986858A>GCA338233460ATP13A2c.3182T>C (p.Leu1061Pro)
c.3050T>C (p.Leu1017Pro)
c.3167T>C (p.Leu1056Pro)
n.1056T>C
c.770T>C (p.Leu257Pro)
c.3179T>C (p.Leu1060Pro)
c.3155T>C (p.Leu1052Pro)
c.3122T>C (p.Leu1041Pro)
c.3065T>C (p.Leu1022Pro)
c.3164T>C (p.Leu1055Pro)
c.3140T>C (p.Leu1047Pro)
c.2975T>C (p.Leu992Pro)
c.3137T>C (p.Leu1046Pro)
1g.16986858A>TCA338233468ATP13A2c.3182T>A (p.Leu1061Gln)
c.3050T>A (p.Leu1017Gln)
c.3167T>A (p.Leu1056Gln)
n.1056T>A
c.770T>A (p.Leu257Gln)
c.3179T>A (p.Leu1060Gln)
c.3155T>A (p.Leu1052Gln)
c.3122T>A (p.Leu1041Gln)
c.3065T>A (p.Leu1022Gln)
c.3164T>A (p.Leu1055Gln)
c.3140T>A (p.Leu1047Gln)
c.2975T>A (p.Leu992Gln)
c.3137T>A (p.Leu1046Gln)
1g.16986859G>ACA416093604ATP13A2c.3181C>T (p.Leu1061=)
c.3049C>T (p.Leu1017=)
c.3166C>T (p.Leu1056=)
n.1055C>T
c.769C>T (p.Leu257=)
c.3178C>T (p.Leu1060=)
c.3154C>T (p.Leu1052=)
c.3121C>T (p.Leu1041=)
c.3064C>T (p.Leu1022=)
c.3163C>T (p.Leu1055=)
c.3139C>T (p.Leu1047=)
c.2974C>T (p.Leu992=)
c.3136C>T (p.Leu1046=)
1g.16986859G>CCA338233476ATP13A2c.3181C>G (p.Leu1061Val)
c.3049C>G (p.Leu1017Val)
c.3166C>G (p.Leu1056Val)
n.1055C>G
c.769C>G (p.Leu257Val)
c.3178C>G (p.Leu1060Val)
c.3154C>G (p.Leu1052Val)
c.3121C>G (p.Leu1041Val)
c.3064C>G (p.Leu1022Val)
c.3163C>G (p.Leu1055Val)
c.3139C>G (p.Leu1047Val)
c.2974C>G (p.Leu992Val)
c.3136C>G (p.Leu1046Val)
1g.16986859G>TCA338233487ATP13A2c.3181C>A (p.Leu1061Met)
c.3049C>A (p.Leu1017Met)
c.3166C>A (p.Leu1056Met)
n.1055C>A
c.769C>A (p.Leu257Met)
c.3178C>A (p.Leu1060Met)
c.3154C>A (p.Leu1052Met)
c.3121C>A (p.Leu1041Met)
c.3064C>A (p.Leu1022Met)
c.3163C>A (p.Leu1055Met)
c.3139C>A (p.Leu1047Met)
c.2974C>A (p.Leu992Met)
c.3136C>A (p.Leu1046Met)
1g.16986860G>ACA416093608ATP13A2c.3180C>T (p.Ile1060=)
c.3048C>T (p.Ile1016=)
c.3165C>T (p.Ile1055=)
n.1054C>T
c.768C>T (p.Ile256=)
c.3177C>T (p.Ile1059=)
c.3153C>T (p.Ile1051=)
c.3120C>T (p.Ile1040=)
c.3063C>T (p.Ile1021=)
c.3162C>T (p.Ile1054=)
c.3138C>T (p.Ile1046=)
c.2973C>T (p.Ile991=)
c.3135C>T (p.Ile1045=)
1g.16986860G>CCA338233489ATP13A2c.3180C>G (p.Ile1060Met)
c.3048C>G (p.Ile1016Met)
c.3165C>G (p.Ile1055Met)
n.1054C>G
c.768C>G (p.Ile256Met)
c.3177C>G (p.Ile1059Met)
c.3153C>G (p.Ile1051Met)
c.3120C>G (p.Ile1040Met)
c.3063C>G (p.Ile1021Met)
c.3162C>G (p.Ile1054Met)
c.3138C>G (p.Ile1046Met)
c.2973C>G (p.Ile991Met)
c.3135C>G (p.Ile1045Met)
1g.16986860G>TCA416093609ATP13A2c.3180C>A (p.Ile1060=)
c.3048C>A (p.Ile1016=)
c.3165C>A (p.Ile1055=)
n.1054C>A
c.768C>A (p.Ile256=)
c.3177C>A (p.Ile1059=)
c.3153C>A (p.Ile1051=)
c.3120C>A (p.Ile1040=)
c.3063C>A (p.Ile1021=)
c.3162C>A (p.Ile1054=)
c.3138C>A (p.Ile1046=)
c.2973C>A (p.Ile991=)
c.3135C>A (p.Ile1045=)
1g.16986861A>CCA338233496ATP13A2c.3179T>G (p.Ile1060Ser)
c.3047T>G (p.Ile1016Ser)
c.3164T>G (p.Ile1055Ser)
n.1053T>G
c.767T>G (p.Ile256Ser)
c.3176T>G (p.Ile1059Ser)
c.3152T>G (p.Ile1051Ser)
c.3119T>G (p.Ile1040Ser)
c.3062T>G (p.Ile1021Ser)
c.3161T>G (p.Ile1054Ser)
c.3137T>G (p.Ile1046Ser)
c.2972T>G (p.Ile991Ser)
c.3134T>G (p.Ile1045Ser)
1g.16986861A>GCA338233492ATP13A2c.3179T>C (p.Ile1060Thr)
c.3047T>C (p.Ile1016Thr)
c.3164T>C (p.Ile1055Thr)
n.1053T>C
c.767T>C (p.Ile256Thr)
c.3176T>C (p.Ile1059Thr)
c.3152T>C (p.Ile1051Thr)
c.3119T>C (p.Ile1040Thr)
c.3062T>C (p.Ile1021Thr)
c.3161T>C (p.Ile1054Thr)
c.3137T>C (p.Ile1046Thr)
c.2972T>C (p.Ile991Thr)
c.3134T>C (p.Ile1045Thr)
1g.16986861A>TCA338233502ATP13A2c.3179T>A (p.Ile1060Asn)
c.3047T>A (p.Ile1016Asn)
c.3164T>A (p.Ile1055Asn)
n.1053T>A
c.767T>A (p.Ile256Asn)
c.3176T>A (p.Ile1059Asn)
c.3152T>A (p.Ile1051Asn)
c.3119T>A (p.Ile1040Asn)
c.3062T>A (p.Ile1021Asn)
c.3161T>A (p.Ile1054Asn)
c.3137T>A (p.Ile1046Asn)
c.2972T>A (p.Ile991Asn)
c.3134T>A (p.Ile1045Asn)
1g.16986862T>ACA338233505ATP13A2c.3178A>T (p.Ile1060Phe)
c.3046A>T (p.Ile1016Phe)
c.3163A>T (p.Ile1055Phe)
n.1052A>T
c.766A>T (p.Ile256Phe)
c.3175A>T (p.Ile1059Phe)
c.3151A>T (p.Ile1051Phe)
c.3118A>T (p.Ile1040Phe)
c.3061A>T (p.Ile1021Phe)
c.3160A>T (p.Ile1054Phe)
c.3136A>T (p.Ile1046Phe)
c.2971A>T (p.Ile991Phe)
c.3133A>T (p.Ile1045Phe)
1g.16986862T>CCA338233506ATP13A2c.3178A>G (p.Ile1060Val)
c.3046A>G (p.Ile1016Val)
c.3163A>G (p.Ile1055Val)
n.1052A>G
c.766A>G (p.Ile256Val)
c.3175A>G (p.Ile1059Val)
c.3151A>G (p.Ile1051Val)
c.3118A>G (p.Ile1040Val)
c.3061A>G (p.Ile1021Val)
c.3160A>G (p.Ile1054Val)
c.3136A>G (p.Ile1046Val)
c.2971A>G (p.Ile991Val)
c.3133A>G (p.Ile1045Val)
1g.16986862T>GCA338233508ATP13A2c.3178A>C (p.Ile1060Leu)
c.3046A>C (p.Ile1016Leu)
c.3163A>C (p.Ile1055Leu)
n.1052A>C
c.766A>C (p.Ile256Leu)
c.3175A>C (p.Ile1059Leu)
c.3151A>C (p.Ile1051Leu)
c.3118A>C (p.Ile1040Leu)
c.3061A>C (p.Ile1021Leu)
c.3160A>C (p.Ile1054Leu)
c.3136A>C (p.Ile1046Leu)
c.2971A>C (p.Ile991Leu)
c.3133A>C (p.Ile1045Leu)
1g.16986863G>ACA636583ATP13A2c.3177C>T (p.Leu1059=)
c.3045C>T (p.Leu1015=)
c.3162C>T (p.Leu1054=)
n.1051C>T
c.765C>T (p.Leu255=)
c.3174C>T (p.Leu1058=)
c.3150C>T (p.Leu1050=)
c.3117C>T (p.Leu1039=)
c.3060C>T (p.Leu1020=)
c.3159C>T (p.Leu1053=)
c.3135C>T (p.Leu1045=)
c.2970C>T (p.Leu990=)
c.3132C>T (p.Leu1044=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.16986863G>CCA416093611ATP13A2c.3177C>G (p.Leu1059=)
c.3045C>G (p.Leu1015=)
c.3162C>G (p.Leu1054=)
n.1051C>G
c.765C>G (p.Leu255=)
c.3174C>G (p.Leu1058=)
c.3150C>G (p.Leu1050=)
c.3117C>G (p.Leu1039=)
c.3060C>G (p.Leu1020=)
c.3159C>G (p.Leu1053=)
c.3135C>G (p.Leu1045=)
c.2970C>G (p.Leu990=)
c.3132C>G (p.Leu1044=)
1g.16986863G=CA1156050444ATP13A2c.3177C= (p.Leu1059=)
c.3045C= (p.Leu1015=)
c.3162C= (p.Leu1054=)
n.1051C=
c.765C= (p.Leu255=)
c.3174C= (p.Leu1058=)
c.3150C= (p.Leu1050=)
c.3117C= (p.Leu1039=)
c.3060C= (p.Leu1020=)
c.3159C= (p.Leu1053=)
c.3135C= (p.Leu1045=)
c.2970C= (p.Leu990=)
c.3132C= (p.Leu1044=)
1g.16986863G>TCA416093610ATP13A2c.3177C>A (p.Leu1059=)
c.3045C>A (p.Leu1015=)
c.3162C>A (p.Leu1054=)
n.1051C>A
c.765C>A (p.Leu255=)
c.3174C>A (p.Leu1058=)
c.3150C>A (p.Leu1050=)
c.3117C>A (p.Leu1039=)
c.3060C>A (p.Leu1020=)
c.3159C>A (p.Leu1053=)
c.3135C>A (p.Leu1045=)
c.2970C>A (p.Leu990=)
c.3132C>A (p.Leu1044=)
1g.16986864A=CA1141580612ATP13A2c.3176T= (p.Leu1059=)
c.3044T= (p.Leu1015=)
c.3161T= (p.Leu1054=)
n.1050T=
c.764T= (p.Leu255=)
c.3173T= (p.Leu1058=)
c.3149T= (p.Leu1050=)
c.3116T= (p.Leu1039=)
c.3059T= (p.Leu1020=)
c.3158T= (p.Leu1053=)
c.3134T= (p.Leu1045=)
c.2969T= (p.Leu990=)
c.3131T= (p.Leu1044=)
1g.16986864A>CCA18625694ATP13A2c.3176T>G (p.Leu1059Arg)
c.3044T>G (p.Leu1015Arg)
c.3161T>G (p.Leu1054Arg)
n.1050T>G
c.764T>G (p.Leu255Arg)
c.3173T>G (p.Leu1058Arg)
c.3149T>G (p.Leu1050Arg)
c.3116T>G (p.Leu1039Arg)
c.3059T>G (p.Leu1020Arg)
c.3158T>G (p.Leu1053Arg)
c.3134T>G (p.Leu1045Arg)
c.2969T>G (p.Leu990Arg)
c.3131T>G (p.Leu1044Arg)
 ClinVar dbSNP
1g.16986864A>GCA338233510ATP13A2c.3176T>C (p.Leu1059Pro)
c.3044T>C (p.Leu1015Pro)
c.3161T>C (p.Leu1054Pro)
n.1050T>C
c.764T>C (p.Leu255Pro)
c.3173T>C (p.Leu1058Pro)
c.3149T>C (p.Leu1050Pro)
c.3116T>C (p.Leu1039Pro)
c.3059T>C (p.Leu1020Pro)
c.3158T>C (p.Leu1053Pro)
c.3134T>C (p.Leu1045Pro)
c.2969T>C (p.Leu990Pro)
c.3131T>C (p.Leu1044Pro)
1g.16986864A>TCA338233511ATP13A2c.3176T>A (p.Leu1059His)
c.3044T>A (p.Leu1015His)
c.3161T>A (p.Leu1054His)
n.1050T>A
c.764T>A (p.Leu255His)
c.3173T>A (p.Leu1058His)
c.3149T>A (p.Leu1050His)
c.3116T>A (p.Leu1039His)
c.3059T>A (p.Leu1020His)
c.3158T>A (p.Leu1053His)
c.3134T>A (p.Leu1045His)
c.2969T>A (p.Leu990His)
c.3131T>A (p.Leu1044His)
1g.16986865G>ACA636584ATP13A2c.3175C>T (p.Leu1059Phe)
c.3043C>T (p.Leu1015Phe)
c.3160C>T (p.Leu1054Phe)
n.1049C>T
c.763C>T (p.Leu255Phe)
c.3172C>T (p.Leu1058Phe)
c.3148C>T (p.Leu1050Phe)
c.3115C>T (p.Leu1039Phe)
c.3058C>T (p.Leu1020Phe)
c.3157C>T (p.Leu1053Phe)
c.3133C>T (p.Leu1045Phe)
c.2968C>T (p.Leu990Phe)
c.3130C>T (p.Leu1044Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.16986865G>CCA338233513ATP13A2c.3175C>G (p.Leu1059Val)
c.3043C>G (p.Leu1015Val)
c.3160C>G (p.Leu1054Val)
n.1049C>G
c.763C>G (p.Leu255Val)
c.3172C>G (p.Leu1058Val)
c.3148C>G (p.Leu1050Val)
c.3115C>G (p.Leu1039Val)
c.3058C>G (p.Leu1020Val)
c.3157C>G (p.Leu1053Val)
c.3133C>G (p.Leu1045Val)
c.2968C>G (p.Leu990Val)
c.3130C>G (p.Leu1044Val)
1g.16986865G=CA1156050453ATP13A2c.3175C= (p.Leu1059=)
c.3043C= (p.Leu1015=)
c.3160C= (p.Leu1054=)
n.1049C=
c.763C= (p.Leu255=)
c.3172C= (p.Leu1058=)
c.3148C= (p.Leu1050=)
c.3115C= (p.Leu1039=)
c.3058C= (p.Leu1020=)
c.3157C= (p.Leu1053=)
c.3133C= (p.Leu1045=)
c.2968C= (p.Leu990=)
c.3130C= (p.Leu1044=)
1g.16986865G>TCA338233515ATP13A2c.3175C>A (p.Leu1059Ile)
c.3043C>A (p.Leu1015Ile)
c.3160C>A (p.Leu1054Ile)
n.1049C>A
c.763C>A (p.Leu255Ile)
c.3172C>A (p.Leu1058Ile)
c.3148C>A (p.Leu1050Ile)
c.3115C>A (p.Leu1039Ile)
c.3058C>A (p.Leu1020Ile)
c.3157C>A (p.Leu1053Ile)
c.3133C>A (p.Leu1045Ile)
c.2968C>A (p.Leu990Ile)
c.3130C>A (p.Leu1044Ile)
1g.16986866G>ACA636585ATP13A2c.3174C>T (p.Tyr1058=)
c.3042C>T (p.Tyr1014=)
c.3159C>T (p.Tyr1053=)
n.1048C>T
c.762C>T (p.Tyr254=)
c.3171C>T (p.Tyr1057=)
c.3147C>T (p.Tyr1049=)
c.3114C>T (p.Tyr1038=)
c.3057C>T (p.Tyr1019=)
c.3156C>T (p.Tyr1052=)
c.3132C>T (p.Tyr1044=)
c.2967C>T (p.Tyr989=)
c.3129C>T (p.Tyr1043=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.16986866G>CCA338233518ATP13A2c.3174C>G (p.Tyr1058Ter)
c.3042C>G (p.Tyr1014Ter)
c.3159C>G (p.Tyr1053Ter)
n.1048C>G
c.762C>G (p.Tyr254Ter)
c.3171C>G (p.Tyr1057Ter)
c.3147C>G (p.Tyr1049Ter)
c.3114C>G (p.Tyr1038Ter)
c.3057C>G (p.Tyr1019Ter)
c.3156C>G (p.Tyr1052Ter)
c.3132C>G (p.Tyr1044Ter)
c.2967C>G (p.Tyr989Ter)
c.3129C>G (p.Tyr1043Ter)
1g.16986866G=CA1156050458ATP13A2c.3174C= (p.Tyr1058=)
c.3042C= (p.Tyr1014=)
c.3159C= (p.Tyr1053=)
n.1048C=
c.762C= (p.Tyr254=)
c.3171C= (p.Tyr1057=)
c.3147C= (p.Tyr1049=)
c.3114C= (p.Tyr1038=)
c.3057C= (p.Tyr1019=)
c.3156C= (p.Tyr1052=)
c.3132C= (p.Tyr1044=)
c.2967C= (p.Tyr989=)
c.3129C= (p.Tyr1043=)
1g.16986866G>TCA338233517ATP13A2c.3174C>A (p.Tyr1058Ter)
c.3042C>A (p.Tyr1014Ter)
c.3159C>A (p.Tyr1053Ter)
n.1048C>A
c.762C>A (p.Tyr254Ter)
c.3171C>A (p.Tyr1057Ter)
c.3147C>A (p.Tyr1049Ter)
c.3114C>A (p.Tyr1038Ter)
c.3057C>A (p.Tyr1019Ter)
c.3156C>A (p.Tyr1052Ter)
c.3132C>A (p.Tyr1044Ter)
c.2967C>A (p.Tyr989Ter)
c.3129C>A (p.Tyr1043Ter)
1g.16986867T>ACA338233519ATP13A2c.3173A>T (p.Tyr1058Phe)
c.3041A>T (p.Tyr1014Phe)
c.3158A>T (p.Tyr1053Phe)
n.1047A>T
c.761A>T (p.Tyr254Phe)
c.3170A>T (p.Tyr1057Phe)
c.3146A>T (p.Tyr1049Phe)
c.3113A>T (p.Tyr1038Phe)
c.3056A>T (p.Tyr1019Phe)
c.3155A>T (p.Tyr1052Phe)
c.3131A>T (p.Tyr1044Phe)
c.2966A>T (p.Tyr989Phe)
c.3128A>T (p.Tyr1043Phe)
 dbSNP
1g.16986867T>CCA338233520ATP13A2c.3173A>G (p.Tyr1058Cys)
c.3041A>G (p.Tyr1014Cys)
c.3158A>G (p.Tyr1053Cys)
n.1047A>G
c.761A>G (p.Tyr254Cys)
c.3170A>G (p.Tyr1057Cys)
c.3146A>G (p.Tyr1049Cys)
c.3113A>G (p.Tyr1038Cys)
c.3056A>G (p.Tyr1019Cys)
c.3155A>G (p.Tyr1052Cys)
c.3131A>G (p.Tyr1044Cys)
c.2966A>G (p.Tyr989Cys)
c.3128A>G (p.Tyr1043Cys)
1g.16986867T>GCA338233522ATP13A2c.3173A>C (p.Tyr1058Ser)
c.3041A>C (p.Tyr1014Ser)
c.3158A>C (p.Tyr1053Ser)
n.1047A>C
c.761A>C (p.Tyr254Ser)
c.3170A>C (p.Tyr1057Ser)
c.3146A>C (p.Tyr1049Ser)
c.3113A>C (p.Tyr1038Ser)
c.3056A>C (p.Tyr1019Ser)
c.3155A>C (p.Tyr1052Ser)
c.3131A>C (p.Tyr1044Ser)
c.2966A>C (p.Tyr989Ser)
c.3128A>C (p.Tyr1043Ser)
1g.16986867T=CA1156050462ATP13A2c.3173A= (p.Tyr1058=)
c.3041A= (p.Tyr1014=)
c.3158A= (p.Tyr1053=)
n.1047A=
c.761A= (p.Tyr254=)
c.3170A= (p.Tyr1057=)
c.3146A= (p.Tyr1049=)
c.3113A= (p.Tyr1038=)
c.3056A= (p.Tyr1019=)
c.3155A= (p.Tyr1052=)
c.3131A= (p.Tyr1044=)
c.2966A= (p.Tyr989=)
c.3128A= (p.Tyr1043=)
1g.16986868A>CCA338233525ATP13A2c.3172T>G (p.Tyr1058Asp)
c.3040T>G (p.Tyr1014Asp)
c.3157T>G (p.Tyr1053Asp)
n.1046T>G
c.760T>G (p.Tyr254Asp)
c.3169T>G (p.Tyr1057Asp)
c.3145T>G (p.Tyr1049Asp)
c.3112T>G (p.Tyr1038Asp)
c.3055T>G (p.Tyr1019Asp)
c.3154T>G (p.Tyr1052Asp)
c.3130T>G (p.Tyr1044Asp)
c.2965T>G (p.Tyr989Asp)
c.3127T>G (p.Tyr1043Asp)
1g.16986868A>GCA338233526ATP13A2c.3172T>C (p.Tyr1058His)
c.3040T>C (p.Tyr1014His)
c.3157T>C (p.Tyr1053His)
n.1046T>C
c.760T>C (p.Tyr254His)
c.3169T>C (p.Tyr1057His)
c.3145T>C (p.Tyr1049His)
c.3112T>C (p.Tyr1038His)
c.3055T>C (p.Tyr1019His)
c.3154T>C (p.Tyr1052His)
c.3130T>C (p.Tyr1044His)
c.2965T>C (p.Tyr989His)
c.3127T>C (p.Tyr1043His)
1g.16986868A>TCA338233527ATP13A2c.3172T>A (p.Tyr1058Asn)
c.3040T>A (p.Tyr1014Asn)
c.3157T>A (p.Tyr1053Asn)
n.1046T>A
c.760T>A (p.Tyr254Asn)
c.3169T>A (p.Tyr1057Asn)
c.3145T>A (p.Tyr1049Asn)
c.3112T>A (p.Tyr1038Asn)
c.3055T>A (p.Tyr1019Asn)
c.3154T>A (p.Tyr1052Asn)
c.3130T>A (p.Tyr1044Asn)
c.2965T>A (p.Tyr989Asn)
c.3127T>A (p.Tyr1043Asn)
1g.16986869C>ACA338233528ATP13A2c.3171G>T (p.Gln1057His)
c.3039G>T (p.Gln1013His)
c.3156G>T (p.Gln1052His)
n.1045G>T
c.759G>T (p.Gln253His)
c.3168G>T (p.Gln1056His)
c.3144G>T (p.Gln1048His)
c.3111G>T (p.Gln1037His)
c.3054G>T (p.Gln1018His)
c.3153G>T (p.Gln1051His)
c.3129G>T (p.Gln1043His)
c.2964G>T (p.Gln988His)
c.3126G>T (p.Gln1042His)
1g.16986869C=CA1156050465ATP13A2c.3171G= (p.Gln1057=)
c.3039G= (p.Gln1013=)
c.3156G= (p.Gln1052=)
n.1045G=
c.759G= (p.Gln253=)
c.3168G= (p.Gln1056=)
c.3144G= (p.Gln1048=)
c.3111G= (p.Gln1037=)
c.3054G= (p.Gln1018=)
c.3153G= (p.Gln1051=)
c.3129G= (p.Gln1043=)
c.2964G= (p.Gln988=)
c.3126G= (p.Gln1042=)
1g.16986869C>GCA338233529ATP13A2c.3171G>C (p.Gln1057His)
c.3039G>C (p.Gln1013His)
c.3156G>C (p.Gln1052His)
n.1045G>C
c.759G>C (p.Gln253His)
c.3168G>C (p.Gln1056His)
c.3144G>C (p.Gln1048His)
c.3111G>C (p.Gln1037His)
c.3054G>C (p.Gln1018His)
c.3153G>C (p.Gln1051His)
c.3129G>C (p.Gln1043His)
c.2964G>C (p.Gln988His)
c.3126G>C (p.Gln1042His)
1g.16986869C>TCA636586ATP13A2c.3171G>A (p.Gln1057=)
c.3039G>A (p.Gln1013=)
c.3156G>A (p.Gln1052=)
n.1045G>A
c.759G>A (p.Gln253=)
c.3168G>A (p.Gln1056=)
c.3144G>A (p.Gln1048=)
c.3111G>A (p.Gln1037=)
c.3054G>A (p.Gln1018=)
c.3153G>A (p.Gln1051=)
c.3129G>A (p.Gln1043=)
c.2964G>A (p.Gln988=)
c.3126G>A (p.Gln1042=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.16986870T>ACA338233530ATP13A2c.3170A>T (p.Gln1057Leu)
c.3038A>T (p.Gln1013Leu)
c.3155A>T (p.Gln1052Leu)
n.1044A>T
c.758A>T (p.Gln253Leu)
c.3167A>T (p.Gln1056Leu)
c.3143A>T (p.Gln1048Leu)
c.3110A>T (p.Gln1037Leu)
c.3053A>T (p.Gln1018Leu)
c.3152A>T (p.Gln1051Leu)
c.3128A>T (p.Gln1043Leu)
c.2963A>T (p.Gln988Leu)
c.3125A>T (p.Gln1042Leu)
1g.16986870T>CCA338233531ATP13A2c.3170A>G (p.Gln1057Arg)
c.3038A>G (p.Gln1013Arg)
c.3155A>G (p.Gln1052Arg)
n.1044A>G
c.758A>G (p.Gln253Arg)
c.3167A>G (p.Gln1056Arg)
c.3143A>G (p.Gln1048Arg)
c.3110A>G (p.Gln1037Arg)
c.3053A>G (p.Gln1018Arg)
c.3152A>G (p.Gln1051Arg)
c.3128A>G (p.Gln1043Arg)
c.2963A>G (p.Gln988Arg)
c.3125A>G (p.Gln1042Arg)
1g.16986870T>GCA338233533ATP13A2c.3170A>C (p.Gln1057Pro)
c.3038A>C (p.Gln1013Pro)
c.3155A>C (p.Gln1052Pro)
n.1044A>C
c.758A>C (p.Gln253Pro)
c.3167A>C (p.Gln1056Pro)
c.3143A>C (p.Gln1048Pro)
c.3110A>C (p.Gln1037Pro)
c.3053A>C (p.Gln1018Pro)
c.3152A>C (p.Gln1051Pro)
c.3128A>C (p.Gln1043Pro)
c.2963A>C (p.Gln988Pro)
c.3125A>C (p.Gln1042Pro)
1g.16986871G>ACA338233535ATP13A2c.3169C>T (p.Gln1057Ter)
c.3037C>T (p.Gln1013Ter)
c.3154C>T (p.Gln1052Ter)
n.1043C>T
c.757C>T (p.Gln253Ter)
c.3166C>T (p.Gln1056Ter)
c.3142C>T (p.Gln1048Ter)
c.3109C>T (p.Gln1037Ter)
c.3052C>T (p.Gln1018Ter)
c.3151C>T (p.Gln1051Ter)
c.3127C>T (p.Gln1043Ter)
c.2962C>T (p.Gln988Ter)
c.3124C>T (p.Gln1042Ter)
1g.16986871G>CCA338233539ATP13A2c.3169C>G (p.Gln1057Glu)
c.3037C>G (p.Gln1013Glu)
c.3154C>G (p.Gln1052Glu)
n.1043C>G
c.757C>G (p.Gln253Glu)
c.3166C>G (p.Gln1056Glu)
c.3142C>G (p.Gln1048Glu)
c.3109C>G (p.Gln1037Glu)
c.3052C>G (p.Gln1018Glu)
c.3151C>G (p.Gln1051Glu)
c.3127C>G (p.Gln1043Glu)
c.2962C>G (p.Gln988Glu)
c.3124C>G (p.Gln1042Glu)
1g.16986871G>TCA338233534ATP13A2c.3169C>A (p.Gln1057Lys)
c.3037C>A (p.Gln1013Lys)
c.3154C>A (p.Gln1052Lys)
n.1043C>A
c.757C>A (p.Gln253Lys)
c.3166C>A (p.Gln1056Lys)
c.3142C>A (p.Gln1048Lys)
c.3109C>A (p.Gln1037Lys)
c.3052C>A (p.Gln1018Lys)
c.3151C>A (p.Gln1051Lys)
c.3127C>A (p.Gln1043Lys)
c.2962C>A (p.Gln988Lys)
c.3124C>A (p.Gln1042Lys)
1g.16986872G>ACA416093620ATP13A2c.3168C>T (p.Phe1056=)
c.3036C>T (p.Phe1012=)
c.3153C>T (p.Phe1051=)
n.1042C>T
c.756C>T (p.Phe252=)
c.3165C>T (p.Phe1055=)
c.3141C>T (p.Phe1047=)
c.3108C>T (p.Phe1036=)
c.3051C>T (p.Phe1017=)
c.3150C>T (p.Phe1050=)
c.3126C>T (p.Phe1042=)
c.2961C>T (p.Phe987=)
c.3123C>T (p.Phe1041=)
 COSMIC COSMIC
1g.16986872G>CCA338233540ATP13A2c.3168C>G (p.Phe1056Leu)
c.3036C>G (p.Phe1012Leu)
c.3153C>G (p.Phe1051Leu)
n.1042C>G
c.756C>G (p.Phe252Leu)
c.3165C>G (p.Phe1055Leu)
c.3141C>G (p.Phe1047Leu)
c.3108C>G (p.Phe1036Leu)
c.3051C>G (p.Phe1017Leu)
c.3150C>G (p.Phe1050Leu)
c.3126C>G (p.Phe1042Leu)
c.2961C>G (p.Phe987Leu)
c.3123C>G (p.Phe1041Leu)
1g.16986872G>TCA338233542ATP13A2c.3168C>A (p.Phe1056Leu)
c.3036C>A (p.Phe1012Leu)
c.3153C>A (p.Phe1051Leu)
n.1042C>A
c.756C>A (p.Phe252Leu)
c.3165C>A (p.Phe1055Leu)
c.3141C>A (p.Phe1047Leu)
c.3108C>A (p.Phe1036Leu)
c.3051C>A (p.Phe1017Leu)
c.3150C>A (p.Phe1050Leu)
c.3126C>A (p.Phe1042Leu)
c.2961C>A (p.Phe987Leu)
c.3123C>A (p.Phe1041Leu)
1g.16986873A>CCA338233544ATP13A2c.3167T>G (p.Phe1056Cys)
c.3035T>G (p.Phe1012Cys)
c.3152T>G (p.Phe1051Cys)
n.1041T>G
c.755T>G (p.Phe252Cys)
c.3164T>G (p.Phe1055Cys)
c.3140T>G (p.Phe1047Cys)
c.3107T>G (p.Phe1036Cys)
c.3050T>G (p.Phe1017Cys)
c.3149T>G (p.Phe1050Cys)
c.3125T>G (p.Phe1042Cys)
c.2960T>G (p.Phe987Cys)
c.3122T>G (p.Phe1041Cys)
1g.16986873A>GCA338233546ATP13A2c.3167T>C (p.Phe1056Ser)
c.3035T>C (p.Phe1012Ser)
c.3152T>C (p.Phe1051Ser)
n.1041T>C
c.755T>C (p.Phe252Ser)
c.3164T>C (p.Phe1055Ser)
c.3140T>C (p.Phe1047Ser)
c.3107T>C (p.Phe1036Ser)
c.3050T>C (p.Phe1017Ser)
c.3149T>C (p.Phe1050Ser)
c.3125T>C (p.Phe1042Ser)
c.2960T>C (p.Phe987Ser)
c.3122T>C (p.Phe1041Ser)
1g.16986873A>TCA338233553ATP13A2c.3167T>A (p.Phe1056Tyr)
c.3035T>A (p.Phe1012Tyr)
c.3152T>A (p.Phe1051Tyr)
n.1041T>A
c.755T>A (p.Phe252Tyr)
c.3164T>A (p.Phe1055Tyr)
c.3140T>A (p.Phe1047Tyr)
c.3107T>A (p.Phe1036Tyr)
c.3050T>A (p.Phe1017Tyr)
c.3149T>A (p.Phe1050Tyr)
c.3125T>A (p.Phe1042Tyr)
c.2960T>A (p.Phe987Tyr)
c.3122T>A (p.Phe1041Tyr)
1g.16986874A>CCA338233555ATP13A2c.3166T>G (p.Phe1056Val)
c.3034T>G (p.Phe1012Val)
c.3151T>G (p.Phe1051Val)
n.1040T>G
c.754T>G (p.Phe252Val)
c.3163T>G (p.Phe1055Val)
c.3139T>G (p.Phe1047Val)
c.3106T>G (p.Phe1036Val)
c.3049T>G (p.Phe1017Val)
c.3148T>G (p.Phe1050Val)
c.3124T>G (p.Phe1042Val)
c.2959T>G (p.Phe987Val)
c.3121T>G (p.Phe1041Val)
1g.16986874A>GCA338233556ATP13A2c.3166T>C (p.Phe1056Leu)
c.3034T>C (p.Phe1012Leu)
c.3151T>C (p.Phe1051Leu)
n.1040T>C
c.754T>C (p.Phe252Leu)
c.3163T>C (p.Phe1055Leu)
c.3139T>C (p.Phe1047Leu)
c.3106T>C (p.Phe1036Leu)
c.3049T>C (p.Phe1017Leu)
c.3148T>C (p.Phe1050Leu)
c.3124T>C (p.Phe1042Leu)
c.2959T>C (p.Phe987Leu)
c.3121T>C (p.Phe1041Leu)
1g.16986874A>TCA338233560ATP13A2c.3166T>A (p.Phe1056Ile)
c.3034T>A (p.Phe1012Ile)
c.3151T>A (p.Phe1051Ile)
n.1040T>A
c.754T>A (p.Phe252Ile)
c.3163T>A (p.Phe1055Ile)
c.3139T>A (p.Phe1047Ile)
c.3106T>A (p.Phe1036Ile)
c.3049T>A (p.Phe1017Ile)
c.3148T>A (p.Phe1050Ile)
c.3124T>A (p.Phe1042Ile)
c.2959T>A (p.Phe987Ile)
c.3121T>A (p.Phe1041Ile)
1g.16986875G>ACA416093621ATP13A2c.3165C>T (p.Ser1055=)
c.3033C>T (p.Ser1011=)
c.3150C>T (p.Ser1050=)
n.1039C>T
c.753C>T (p.Ser251=)
c.3162C>T (p.Ser1054=)
c.3138C>T (p.Ser1046=)
c.3105C>T (p.Ser1035=)
c.3048C>T (p.Ser1016=)
c.3147C>T (p.Ser1049=)
c.3123C>T (p.Ser1041=)
c.2958C>T (p.Ser986=)
c.3120C>T (p.Ser1040=)
1g.16986875G>CCA338233562ATP13A2c.3165C>G (p.Ser1055Arg)
c.3033C>G (p.Ser1011Arg)
c.3150C>G (p.Ser1050Arg)
n.1039C>G
c.753C>G (p.Ser251Arg)
c.3162C>G (p.Ser1054Arg)
c.3138C>G (p.Ser1046Arg)
c.3105C>G (p.Ser1035Arg)
c.3048C>G (p.Ser1016Arg)
c.3147C>G (p.Ser1049Arg)
c.3123C>G (p.Ser1041Arg)
c.2958C>G (p.Ser986Arg)
c.3120C>G (p.Ser1040Arg)
1g.16986875G>TCA338233564ATP13A2c.3165C>A (p.Ser1055Arg)
c.3033C>A (p.Ser1011Arg)
c.3150C>A (p.Ser1050Arg)
n.1039C>A
c.753C>A (p.Ser251Arg)
c.3162C>A (p.Ser1054Arg)
c.3138C>A (p.Ser1046Arg)
c.3105C>A (p.Ser1035Arg)
c.3048C>A (p.Ser1016Arg)
c.3147C>A (p.Ser1049Arg)
c.3123C>A (p.Ser1041Arg)
c.2958C>A (p.Ser986Arg)
c.3120C>A (p.Ser1040Arg)
1g.16986876C>ACA338233565ATP13A2c.3164G>T (p.Ser1055Ile)
c.3032G>T (p.Ser1011Ile)
c.3149G>T (p.Ser1050Ile)
n.1038G>T
c.752G>T (p.Ser251Ile)
c.3161G>T (p.Ser1054Ile)
c.3137G>T (p.Ser1046Ile)
c.3104G>T (p.Ser1035Ile)
c.3047G>T (p.Ser1016Ile)
c.3146G>T (p.Ser1049Ile)
c.3122G>T (p.Ser1041Ile)
c.2957G>T (p.Ser986Ile)
c.3119G>T (p.Ser1040Ile)
1g.16986876C=CA1156050468ATP13A2c.3164G= (p.Ser1055=)
c.3032G= (p.Ser1011=)
c.3149G= (p.Ser1050=)
n.1038G=
c.752G= (p.Ser251=)
c.3161G= (p.Ser1054=)
c.3137G= (p.Ser1046=)
c.3104G= (p.Ser1035=)
c.3047G= (p.Ser1016=)
c.3146G= (p.Ser1049=)
c.3122G= (p.Ser1041=)
c.2957G= (p.Ser986=)
c.3119G= (p.Ser1040=)
1g.16986876C>GCA18625726ATP13A2c.3164G>C (p.Ser1055Thr)
c.3032G>C (p.Ser1011Thr)
c.3149G>C (p.Ser1050Thr)
n.1038G>C
c.752G>C (p.Ser251Thr)
c.3161G>C (p.Ser1054Thr)
c.3137G>C (p.Ser1046Thr)
c.3104G>C (p.Ser1035Thr)
c.3047G>C (p.Ser1016Thr)
c.3146G>C (p.Ser1049Thr)
c.3122G>C (p.Ser1041Thr)
c.2957G>C (p.Ser986Thr)
c.3119G>C (p.Ser1040Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.16986876C>TCA338233569ATP13A2c.3164G>A (p.Ser1055Asn)
c.3032G>A (p.Ser1011Asn)
c.3149G>A (p.Ser1050Asn)
n.1038G>A
c.752G>A (p.Ser251Asn)
c.3161G>A (p.Ser1054Asn)
c.3137G>A (p.Ser1046Asn)
c.3104G>A (p.Ser1035Asn)
c.3047G>A (p.Ser1016Asn)
c.3146G>A (p.Ser1049Asn)
c.3122G>A (p.Ser1041Asn)
c.2957G>A (p.Ser986Asn)
c.3119G>A (p.Ser1040Asn)
1g.16986877T>ACA338233572ATP13A2c.3163A>T (p.Ser1055Cys)
c.3031A>T (p.Ser1011Cys)
c.3148A>T (p.Ser1050Cys)
n.1037A>T
c.751A>T (p.Ser251Cys)
c.3160A>T (p.Ser1054Cys)
c.3136A>T (p.Ser1046Cys)
c.3103A>T (p.Ser1035Cys)
c.3046A>T (p.Ser1016Cys)
c.3145A>T (p.Ser1049Cys)
c.3121A>T (p.Ser1041Cys)
c.2956A>T (p.Ser986Cys)
c.3118A>T (p.Ser1040Cys)
1g.16986877T>CCA338233571ATP13A2c.3163A>G (p.Ser1055Gly)
c.3031A>G (p.Ser1011Gly)
c.3148A>G (p.Ser1050Gly)
n.1037A>G
c.751A>G (p.Ser251Gly)
c.3160A>G (p.Ser1054Gly)
c.3136A>G (p.Ser1046Gly)
c.3103A>G (p.Ser1035Gly)
c.3046A>G (p.Ser1016Gly)
c.3145A>G (p.Ser1049Gly)
c.3121A>G (p.Ser1041Gly)
c.2956A>G (p.Ser986Gly)
c.3118A>G (p.Ser1040Gly)
1g.16986877T>GCA338233570ATP13A2c.3163A>C (p.Ser1055Arg)
c.3031A>C (p.Ser1011Arg)
c.3148A>C (p.Ser1050Arg)
n.1037A>C
c.751A>C (p.Ser251Arg)
c.3160A>C (p.Ser1054Arg)
c.3136A>C (p.Ser1046Arg)
c.3103A>C (p.Ser1035Arg)
c.3046A>C (p.Ser1016Arg)
c.3145A>C (p.Ser1049Arg)
c.3121A>C (p.Ser1041Arg)
c.2956A>C (p.Ser986Arg)
c.3118A>C (p.Ser1040Arg)
1g.16986878G>ACA416093627ATP13A2c.3162C>T (p.Ser1054=)
c.3030C>T (p.Ser1010=)
c.3147C>T (p.Ser1049=)
n.1036C>T
c.750C>T (p.Ser250=)
c.3159C>T (p.Ser1053=)
c.3135C>T (p.Ser1045=)
c.3102C>T (p.Ser1034=)
c.3045C>T (p.Ser1015=)
c.3144C>T (p.Ser1048=)
c.3120C>T (p.Ser1040=)
c.2955C>T (p.Ser985=)
c.3117C>T (p.Ser1039=)
 gnomAD v4
1g.16986878G>CCA416093626ATP13A2c.3162C>G (p.Ser1054=)
c.3030C>G (p.Ser1010=)
c.3147C>G (p.Ser1049=)
n.1036C>G
c.750C>G (p.Ser250=)
c.3159C>G (p.Ser1053=)
c.3135C>G (p.Ser1045=)
c.3102C>G (p.Ser1034=)
c.3045C>G (p.Ser1015=)
c.3144C>G (p.Ser1048=)
c.3120C>G (p.Ser1040=)
c.2955C>G (p.Ser985=)
c.3117C>G (p.Ser1039=)
 dbSNP gnomAD v4
1g.16986878G=CA1156050471ATP13A2c.3162C= (p.Ser1054=)
c.3030C= (p.Ser1010=)
c.3147C= (p.Ser1049=)
n.1036C=
c.750C= (p.Ser250=)
c.3159C= (p.Ser1053=)
c.3135C= (p.Ser1045=)
c.3102C= (p.Ser1034=)
c.3045C= (p.Ser1015=)
c.3144C= (p.Ser1048=)
c.3120C= (p.Ser1040=)
c.2955C= (p.Ser985=)
c.3117C= (p.Ser1039=)
1g.16986878G>TCA416093625ATP13A2c.3162C>A (p.Ser1054=)
c.3030C>A (p.Ser1010=)
c.3147C>A (p.Ser1049=)
n.1036C>A
c.750C>A (p.Ser250=)
c.3159C>A (p.Ser1053=)
c.3135C>A (p.Ser1045=)
c.3102C>A (p.Ser1034=)
c.3045C>A (p.Ser1015=)
c.3144C>A (p.Ser1048=)
c.3120C>A (p.Ser1040=)
c.2955C>A (p.Ser985=)
c.3117C>A (p.Ser1039=)
1g.16986879G>ACA338233573ATP13A2c.3161C>T (p.Ser1054Phe)
c.3029C>T (p.Ser1010Phe)
c.3146C>T (p.Ser1049Phe)
n.1035C>T
c.749C>T (p.Ser250Phe)
c.3158C>T (p.Ser1053Phe)
c.3134C>T (p.Ser1045Phe)
c.3101C>T (p.Ser1034Phe)
c.3044C>T (p.Ser1015Phe)
c.3143C>T (p.Ser1048Phe)
c.3119C>T (p.Ser1040Phe)
c.2954C>T (p.Ser985Phe)
c.3116C>T (p.Ser1039Phe)
1g.16986879G>CCA338233575ATP13A2c.3161C>G (p.Ser1054Cys)
c.3029C>G (p.Ser1010Cys)
c.3146C>G (p.Ser1049Cys)
n.1035C>G
c.749C>G (p.Ser250Cys)
c.3158C>G (p.Ser1053Cys)
c.3134C>G (p.Ser1045Cys)
c.3101C>G (p.Ser1034Cys)
c.3044C>G (p.Ser1015Cys)
c.3143C>G (p.Ser1048Cys)
c.3119C>G (p.Ser1040Cys)
c.2954C>G (p.Ser985Cys)
c.3116C>G (p.Ser1039Cys)
1g.16986879G>TCA338233577ATP13A2c.3161C>A (p.Ser1054Tyr)
c.3029C>A (p.Ser1010Tyr)
c.3146C>A (p.Ser1049Tyr)
n.1035C>A
c.749C>A (p.Ser250Tyr)
c.3158C>A (p.Ser1053Tyr)
c.3134C>A (p.Ser1045Tyr)
c.3101C>A (p.Ser1034Tyr)
c.3044C>A (p.Ser1015Tyr)
c.3143C>A (p.Ser1048Tyr)
c.3119C>A (p.Ser1040Tyr)
c.2954C>A (p.Ser985Tyr)
c.3116C>A (p.Ser1039Tyr)
1g.16986880A>CCA338233581ATP13A2c.3160T>G (p.Ser1054Ala)
c.3028T>G (p.Ser1010Ala)
c.3145T>G (p.Ser1049Ala)
n.1034T>G
c.748T>G (p.Ser250Ala)
c.3157T>G (p.Ser1053Ala)
c.3133T>G (p.Ser1045Ala)
c.3100T>G (p.Ser1034Ala)
c.3043T>G (p.Ser1015Ala)
c.3142T>G (p.Ser1048Ala)
c.3118T>G (p.Ser1040Ala)
c.2953T>G (p.Ser985Ala)
c.3115T>G (p.Ser1039Ala)
1g.16986880A>GCA338233582ATP13A2c.3160T>C (p.Ser1054Pro)
c.3028T>C (p.Ser1010Pro)
c.3145T>C (p.Ser1049Pro)
n.1034T>C
c.748T>C (p.Ser250Pro)
c.3157T>C (p.Ser1053Pro)
c.3133T>C (p.Ser1045Pro)
c.3100T>C (p.Ser1034Pro)
c.3043T>C (p.Ser1015Pro)
c.3142T>C (p.Ser1048Pro)
c.3118T>C (p.Ser1040Pro)
c.2953T>C (p.Ser985Pro)
c.3115T>C (p.Ser1039Pro)
1g.16986880A>TCA338233584ATP13A2c.3160T>A (p.Ser1054Thr)
c.3028T>A (p.Ser1010Thr)
c.3145T>A (p.Ser1049Thr)
n.1034T>A
c.748T>A (p.Ser250Thr)
c.3157T>A (p.Ser1053Thr)
c.3133T>A (p.Ser1045Thr)
c.3100T>A (p.Ser1034Thr)
c.3043T>A (p.Ser1015Thr)
c.3142T>A (p.Ser1048Thr)
c.3118T>A (p.Ser1040Thr)
c.2953T>A (p.Ser985Thr)
c.3115T>A (p.Ser1039Thr)
1g.16986881C>ACA416093720ATP13A2c.3159G>T (p.Leu1053=)
c.3027G>T (p.Leu1009=)
c.3144G>T (p.Leu1048=)
n.1033G>T
c.747G>T (p.Leu249=)
c.3156G>T (p.Leu1052=)
c.3132G>T (p.Leu1044=)
c.3099G>T (p.Leu1033=)
c.3042G>T (p.Leu1014=)
c.3141G>T (p.Leu1047=)
c.3117G>T (p.Leu1039=)
c.2952G>T (p.Leu984=)
c.3114G>T (p.Leu1038=)
1g.16986881C=CA1141739419ATP13A2c.3159G= (p.Leu1053=)
c.3027G= (p.Leu1009=)
c.3144G= (p.Leu1048=)
n.1033G=
c.747G= (p.Leu249=)
c.3156G= (p.Leu1052=)
c.3132G= (p.Leu1044=)
c.3099G= (p.Leu1033=)
c.3042G= (p.Leu1014=)
c.3141G= (p.Leu1047=)
c.3117G= (p.Leu1039=)
c.2952G= (p.Leu984=)
c.3114G= (p.Leu1038=)
1g.16986881C>GCA636587ATP13A2c.3159G>C (p.Leu1053=)
c.3027G>C (p.Leu1009=)
c.3144G>C (p.Leu1048=)
n.1033G>C
c.747G>C (p.Leu249=)
c.3156G>C (p.Leu1052=)
c.3132G>C (p.Leu1044=)
c.3099G>C (p.Leu1033=)
c.3042G>C (p.Leu1014=)
c.3141G>C (p.Leu1047=)
c.3117G>C (p.Leu1039=)
c.2952G>C (p.Leu984=)
c.3114G>C (p.Leu1038=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.16986881C>TCA416093721ATP13A2c.3159G>A (p.Leu1053=)
c.3027G>A (p.Leu1009=)
c.3144G>A (p.Leu1048=)
n.1033G>A
c.747G>A (p.Leu249=)
c.3156G>A (p.Leu1052=)
c.3132G>A (p.Leu1044=)
c.3099G>A (p.Leu1033=)
c.3042G>A (p.Leu1014=)
c.3141G>A (p.Leu1047=)
c.3117G>A (p.Leu1039=)
c.2952G>A (p.Leu984=)
c.3114G>A (p.Leu1038=)
 gnomAD v4
1g.16986881_16986883delinsCAGCA1156050477ATP13A2c.3157_3159delinsCTG (p.Leu1053=)
c.3025_3027delinsCTG (p.Leu1009=)
c.3142_3144delinsCTG (p.Leu1048=)
n.1031_1033delinsCTG
c.745_747delinsCTG (p.Leu249=)
c.3154_3156delinsCTG (p.Leu1052=)
c.3130_3132delinsCTG (p.Leu1044=)
c.3097_3099delinsCTG (p.Leu1033=)
c.3040_3042delinsCTG (p.Leu1014=)
c.3139_3141delinsCTG (p.Leu1047=)
c.3115_3117delinsCTG (p.Leu1039=)
c.2950_2952delinsCTG (p.Leu984=)
c.3112_3114delinsCTG (p.Leu1038=)
1g.16986882A>CCA338233585ATP13A2c.3158T>G (p.Leu1053Arg)
c.3026T>G (p.Leu1009Arg)
c.3143T>G (p.Leu1048Arg)
n.1032T>G
c.746T>G (p.Leu249Arg)
c.3155T>G (p.Leu1052Arg)
c.3131T>G (p.Leu1044Arg)
c.3098T>G (p.Leu1033Arg)
c.3041T>G (p.Leu1014Arg)
c.3140T>G (p.Leu1047Arg)
c.3116T>G (p.Leu1039Arg)
c.2951T>G (p.Leu984Arg)
c.3113T>G (p.Leu1038Arg)
1g.16986882A>GCA338233586ATP13A2c.3158T>C (p.Leu1053Pro)
c.3026T>C (p.Leu1009Pro)
c.3143T>C (p.Leu1048Pro)
n.1032T>C
c.746T>C (p.Leu249Pro)
c.3155T>C (p.Leu1052Pro)
c.3131T>C (p.Leu1044Pro)
c.3098T>C (p.Leu1033Pro)
c.3041T>C (p.Leu1014Pro)
c.3140T>C (p.Leu1047Pro)
c.3116T>C (p.Leu1039Pro)
c.2951T>C (p.Leu984Pro)
c.3113T>C (p.Leu1038Pro)
1g.16986882A>TCA338233588ATP13A2c.3158T>A (p.Leu1053Gln)
c.3026T>A (p.Leu1009Gln)
c.3143T>A (p.Leu1048Gln)
n.1032T>A
c.746T>A (p.Leu249Gln)
c.3155T>A (p.Leu1052Gln)
c.3131T>A (p.Leu1044Gln)
c.3098T>A (p.Leu1033Gln)
c.3041T>A (p.Leu1014Gln)
c.3140T>A (p.Leu1047Gln)
c.3116T>A (p.Leu1039Gln)
c.2951T>A (p.Leu984Gln)
c.3113T>A (p.Leu1038Gln)
1g.16986887_16986888delCA915941147ATP13A2c.3157_3158del (p.Leu1053ValfsTer?)
c.3025_3026del (p.Leu1009ValfsTer26)
c.3142_3143del (p.Leu1048ValfsTer?)
n.1031_1032del
c.745_746del (p.Leu249ValfsTer26)
c.3157_3158del (p.Leu1053ValfsTer26)
c.3154_3155del (p.Leu1052ValfsTer26)
c.3142_3143del (p.Leu1048ValfsTer26)
c.3130_3131del (p.Leu1044ValfsTer26)
c.3097_3098del (p.Leu1033ValfsTer26)
c.3040_3041del (p.Leu1014ValfsTer26)
c.3139_3140del (p.Leu1047ValfsTer26)
c.3115_3116del (p.Leu1039ValfsTer26)
c.2950_2951del (p.Leu984ValfsTer26)
c.3139_3140del (p.Leu1047ValfsTer?)
c.3115_3116del (p.Leu1039ValfsTer?)
c.3112_3113del (p.Leu1038ValfsTer?)
c.3040_3041del (p.Leu1014ValfsTer?)
c.3025_3026del (p.Leu1009ValfsTer?)
c.2950_2951del (p.Leu984ValfsTer?)
 ClinVar dbSNP gnomAD v4
1g.16986883G>ACA416093722ATP13A2c.3157C>T (p.Leu1053=)
c.3025C>T (p.Leu1009=)
c.3142C>T (p.Leu1048=)
n.1031C>T
c.745C>T (p.Leu249=)
c.3154C>T (p.Leu1052=)
c.3130C>T (p.Leu1044=)
c.3097C>T (p.Leu1033=)
c.3040C>T (p.Leu1014=)
c.3139C>T (p.Leu1047=)
c.3115C>T (p.Leu1039=)
c.2950C>T (p.Leu984=)
c.3112C>T (p.Leu1038=)
1g.16986883G>CCA18625744ATP13A2c.3157C>G (p.Leu1053Val)
c.3025C>G (p.Leu1009Val)
c.3142C>G (p.Leu1048Val)
n.1031C>G
c.745C>G (p.Leu249Val)
c.3154C>G (p.Leu1052Val)
c.3130C>G (p.Leu1044Val)
c.3097C>G (p.Leu1033Val)
c.3040C>G (p.Leu1014Val)
c.3139C>G (p.Leu1047Val)
c.3115C>G (p.Leu1039Val)
c.2950C>G (p.Leu984Val)
c.3112C>G (p.Leu1038Val)
 dbSNP
1g.16986883G=CA1156050482ATP13A2c.3157C= (p.Leu1053=)
c.3025C= (p.Leu1009=)
c.3142C= (p.Leu1048=)
n.1031C=
c.745C= (p.Leu249=)
c.3154C= (p.Leu1052=)
c.3130C= (p.Leu1044=)
c.3097C= (p.Leu1033=)
c.3040C= (p.Leu1014=)
c.3139C= (p.Leu1047=)
c.3115C= (p.Leu1039=)
c.2950C= (p.Leu984=)
c.3112C= (p.Leu1038=)
1g.16986883G>TCA338233593ATP13A2c.3157C>A (p.Leu1053Met)
c.3025C>A (p.Leu1009Met)
c.3142C>A (p.Leu1048Met)
n.1031C>A
c.745C>A (p.Leu249Met)
c.3154C>A (p.Leu1052Met)
c.3130C>A (p.Leu1044Met)
c.3097C>A (p.Leu1033Met)
c.3040C>A (p.Leu1014Met)
c.3139C>A (p.Leu1047Met)
c.3115C>A (p.Leu1039Met)
c.2950C>A (p.Leu984Met)
c.3112C>A (p.Leu1038Met)
1g.16986884A=CA1156050487ATP13A2c.3156T= (p.Ser1052=)
c.3024T= (p.Ser1008=)
c.3141T= (p.Ser1047=)
n.1030T=
c.744T= (p.Ser248=)
c.3153T= (p.Ser1051=)
c.3129T= (p.Ser1043=)
c.3096T= (p.Ser1032=)
c.3039T= (p.Ser1013=)
c.3138T= (p.Ser1046=)
c.3114T= (p.Ser1038=)
c.2949T= (p.Ser983=)
c.3111T= (p.Ser1037=)
1g.16986884A>CCA416093723ATP13A2c.3156T>G (p.Ser1052=)
c.3024T>G (p.Ser1008=)
c.3141T>G (p.Ser1047=)
n.1030T>G
c.744T>G (p.Ser248=)
c.3153T>G (p.Ser1051=)
c.3129T>G (p.Ser1043=)
c.3096T>G (p.Ser1032=)
c.3039T>G (p.Ser1013=)
c.3138T>G (p.Ser1046=)
c.3114T>G (p.Ser1038=)
c.2949T>G (p.Ser983=)
c.3111T>G (p.Ser1037=)
1g.16986884A>GCA416093724ATP13A2c.3156T>C (p.Ser1052=)
c.3024T>C (p.Ser1008=)
c.3141T>C (p.Ser1047=)
n.1030T>C
c.744T>C (p.Ser248=)
c.3153T>C (p.Ser1051=)
c.3129T>C (p.Ser1043=)
c.3096T>C (p.Ser1032=)
c.3039T>C (p.Ser1013=)
c.3138T>C (p.Ser1046=)
c.3114T>C (p.Ser1038=)
c.2949T>C (p.Ser983=)
c.3111T>C (p.Ser1037=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.16986884A>TCA416093725ATP13A2c.3156T>A (p.Ser1052=)
c.3024T>A (p.Ser1008=)
c.3141T>A (p.Ser1047=)
n.1030T>A
c.744T>A (p.Ser248=)
c.3153T>A (p.Ser1051=)
c.3129T>A (p.Ser1043=)
c.3096T>A (p.Ser1032=)
c.3039T>A (p.Ser1013=)
c.3138T>A (p.Ser1046=)
c.3114T>A (p.Ser1038=)
c.2949T>A (p.Ser983=)
c.3111T>A (p.Ser1037=)
1g.16986884dupCA1156050490ATP13A2c.3156dup (p.Leu1053SerfsTer?)
c.3024dup (p.Leu1009SerfsTer27)
c.3141dup (p.Leu1048SerfsTer?)
n.1030dup
c.744dup (p.Leu249SerfsTer27)
c.3156dup (p.Leu1053SerfsTer27)
c.3153dup (p.Leu1052SerfsTer27)
c.3141dup (p.Leu1048SerfsTer27)
c.3129dup (p.Leu1044SerfsTer27)
c.3096dup (p.Leu1033SerfsTer27)
c.3039dup (p.Leu1014SerfsTer27)
c.3138dup (p.Leu1047SerfsTer27)
c.3114dup (p.Leu1039SerfsTer27)
c.2949dup (p.Leu984SerfsTer27)
c.3138dup (p.Leu1047SerfsTer?)
c.3114dup (p.Leu1039SerfsTer?)
c.3111dup (p.Leu1038SerfsTer?)
c.3039dup (p.Leu1014SerfsTer?)
c.3024dup (p.Leu1009SerfsTer?)
c.2949dup (p.Leu984SerfsTer?)
 dbSNP
1g.16986885G>ACA338233599ATP13A2c.3155C>T (p.Ser1052Phe)
c.3023C>T (p.Ser1008Phe)
c.3140C>T (p.Ser1047Phe)
n.1029C>T
c.743C>T (p.Ser248Phe)
c.3152C>T (p.Ser1051Phe)
c.3128C>T (p.Ser1043Phe)
c.3095C>T (p.Ser1032Phe)
c.3038C>T (p.Ser1013Phe)
c.3137C>T (p.Ser1046Phe)
c.3113C>T (p.Ser1038Phe)
c.2948C>T (p.Ser983Phe)
c.3110C>T (p.Ser1037Phe)
 gnomAD v4
1g.16986885G>CCA338233598ATP13A2c.3155C>G (p.Ser1052Cys)
c.3023C>G (p.Ser1008Cys)
c.3140C>G (p.Ser1047Cys)
n.1029C>G
c.743C>G (p.Ser248Cys)
c.3152C>G (p.Ser1051Cys)
c.3128C>G (p.Ser1043Cys)
c.3095C>G (p.Ser1032Cys)
c.3038C>G (p.Ser1013Cys)
c.3137C>G (p.Ser1046Cys)
c.3113C>G (p.Ser1038Cys)
c.2948C>G (p.Ser983Cys)
c.3110C>G (p.Ser1037Cys)
 gnomAD v4
1g.16986885G>TCA338233595ATP13A2c.3155C>A (p.Ser1052Tyr)
c.3023C>A (p.Ser1008Tyr)
c.3140C>A (p.Ser1047Tyr)
n.1029C>A
c.743C>A (p.Ser248Tyr)
c.3152C>A (p.Ser1051Tyr)
c.3128C>A (p.Ser1043Tyr)
c.3095C>A (p.Ser1032Tyr)
c.3038C>A (p.Ser1013Tyr)
c.3137C>A (p.Ser1046Tyr)
c.3113C>A (p.Ser1038Tyr)
c.2948C>A (p.Ser983Tyr)
c.3110C>A (p.Ser1037Tyr)
1g.16986885_16986888delinsGAGACA1156050492ATP13A2c.3152_3155delinsTCTC (p.Phe1051=)
c.3020_3023delinsTCTC (p.Phe1007=)
c.3137_3140delinsTCTC (p.Phe1046=)
n.1026_1029delinsTCTC
c.740_743delinsTCTC (p.Phe247=)
c.3149_3152delinsTCTC (p.Phe1050=)
c.3125_3128delinsTCTC (p.Phe1042=)
c.3092_3095delinsTCTC (p.Phe1031=)
c.3035_3038delinsTCTC (p.Phe1012=)
c.3134_3137delinsTCTC (p.Phe1045=)
c.3110_3113delinsTCTC (p.Phe1037=)
c.2945_2948delinsTCTC (p.Phe982=)
c.3107_3110delinsTCTC (p.Phe1036=)
1g.16986886A=CA1156050496ATP13A2c.3154T= (p.Ser1052=)
c.3022T= (p.Ser1008=)
c.3139T= (p.Ser1047=)
n.1028T=
c.742T= (p.Ser248=)
c.3151T= (p.Ser1051=)
c.3127T= (p.Ser1043=)
c.3094T= (p.Ser1032=)
c.3037T= (p.Ser1013=)
c.3136T= (p.Ser1046=)
c.3112T= (p.Ser1038=)
c.2947T= (p.Ser983=)
c.3109T= (p.Ser1037=)
1g.16986886A>CCA338233602ATP13A2c.3154T>G (p.Ser1052Ala)
c.3022T>G (p.Ser1008Ala)
c.3139T>G (p.Ser1047Ala)
n.1028T>G
c.742T>G (p.Ser248Ala)
c.3151T>G (p.Ser1051Ala)
c.3127T>G (p.Ser1043Ala)
c.3094T>G (p.Ser1032Ala)
c.3037T>G (p.Ser1013Ala)
c.3136T>G (p.Ser1046Ala)
c.3112T>G (p.Ser1038Ala)
c.2947T>G (p.Ser983Ala)
c.3109T>G (p.Ser1037Ala)
1g.16986886A>GCA338233603ATP13A2c.3154T>C (p.Ser1052Pro)
c.3022T>C (p.Ser1008Pro)
c.3139T>C (p.Ser1047Pro)
n.1028T>C
c.742T>C (p.Ser248Pro)
c.3151T>C (p.Ser1051Pro)
c.3127T>C (p.Ser1043Pro)
c.3094T>C (p.Ser1032Pro)
c.3037T>C (p.Ser1013Pro)
c.3136T>C (p.Ser1046Pro)
c.3112T>C (p.Ser1038Pro)
c.2947T>C (p.Ser983Pro)
c.3109T>C (p.Ser1037Pro)
 gnomAD v4
1g.16986886A>TCA338233608ATP13A2c.3154T>A (p.Ser1052Thr)
c.3022T>A (p.Ser1008Thr)
c.3139T>A (p.Ser1047Thr)
n.1028T>A
c.742T>A (p.Ser248Thr)
c.3151T>A (p.Ser1051Thr)
c.3127T>A (p.Ser1043Thr)
c.3094T>A (p.Ser1032Thr)
c.3037T>A (p.Ser1013Thr)
c.3136T>A (p.Ser1046Thr)
c.3112T>A (p.Ser1038Thr)
c.2947T>A (p.Ser983Thr)
c.3109T>A (p.Ser1037Thr)
1g.16986889_16986891delCA16043958ATP13A2c.3152_3154del (p.Phe1051del)
c.3020_3022del (p.Phe1007del)
c.3137_3139del (p.Phe1046del)
n.1026_1028del
c.740_742del (p.Phe247del)
c.3149_3151del (p.Phe1050del)
c.3125_3127del (p.Phe1042del)
c.3092_3094del (p.Phe1031del)
c.3035_3037del (p.Phe1012del)
c.3134_3136del (p.Phe1045del)
c.3110_3112del (p.Phe1037del)
c.2945_2947del (p.Phe982del)
c.3107_3109del (p.Phe1036del)
 ClinVar dbSNP gnomAD v4
1g.16986887G>ACA416093726ATP13A2c.3153C>T (p.Phe1051=)
c.3021C>T (p.Phe1007=)
c.3138C>T (p.Phe1046=)
n.1027C>T
c.741C>T (p.Phe247=)
c.3150C>T (p.Phe1050=)
c.3126C>T (p.Phe1042=)
c.3093C>T (p.Phe1031=)
c.3036C>T (p.Phe1012=)
c.3135C>T (p.Phe1045=)
c.3111C>T (p.Phe1037=)
c.2946C>T (p.Phe982=)
c.3108C>T (p.Phe1036=)
1g.16986887G>CCA338233614ATP13A2c.3153C>G (p.Phe1051Leu)
c.3021C>G (p.Phe1007Leu)
c.3138C>G (p.Phe1046Leu)
n.1027C>G
c.741C>G (p.Phe247Leu)
c.3150C>G (p.Phe1050Leu)
c.3126C>G (p.Phe1042Leu)
c.3093C>G (p.Phe1031Leu)
c.3036C>G (p.Phe1012Leu)
c.3135C>G (p.Phe1045Leu)
c.3111C>G (p.Phe1037Leu)
c.2946C>G (p.Phe982Leu)
c.3108C>G (p.Phe1036Leu)
1g.16986887G=CA1148475407ATP13A2c.3153C= (p.Phe1051=)
c.3021C= (p.Phe1007=)
c.3138C= (p.Phe1046=)
n.1027C=
c.741C= (p.Phe247=)
c.3150C= (p.Phe1050=)
c.3126C= (p.Phe1042=)
c.3093C= (p.Phe1031=)
c.3036C= (p.Phe1012=)
c.3135C= (p.Phe1045=)
c.3111C= (p.Phe1037=)
c.2946C= (p.Phe982=)
c.3108C= (p.Phe1036=)
1g.16986887G>TCA338233615ATP13A2c.3153C>A (p.Phe1051Leu)
c.3021C>A (p.Phe1007Leu)
c.3138C>A (p.Phe1046Leu)
n.1027C>A
c.741C>A (p.Phe247Leu)
c.3150C>A (p.Phe1050Leu)
c.3126C>A (p.Phe1042Leu)
c.3093C>A (p.Phe1031Leu)
c.3036C>A (p.Phe1012Leu)
c.3135C>A (p.Phe1045Leu)
c.3111C>A (p.Phe1037Leu)
c.2946C>A (p.Phe982Leu)
c.3108C>A (p.Phe1036Leu)
1g.16986887dupCA636588ATP13A2c.3153dup (p.Ser1052LeufsTer?)
c.3021dup (p.Ser1008LeufsTer28)
c.3138dup (p.Ser1047LeufsTer?)
n.1027dup
c.741dup (p.Ser248LeufsTer28)
c.3153dup (p.Ser1052LeufsTer28)
c.3150dup (p.Ser1051LeufsTer28)
c.3138dup (p.Ser1047LeufsTer28)
c.3126dup (p.Ser1043LeufsTer28)
c.3093dup (p.Ser1032LeufsTer28)
c.3036dup (p.Ser1013LeufsTer28)
c.3135dup (p.Ser1046LeufsTer28)
c.3111dup (p.Ser1038LeufsTer28)
c.2946dup (p.Ser983LeufsTer28)
c.3135dup (p.Ser1046LeufsTer?)
c.3111dup (p.Ser1038LeufsTer?)
c.3108dup (p.Ser1037LeufsTer?)
c.3036dup (p.Ser1013LeufsTer?)
c.3021dup (p.Ser1008LeufsTer?)
c.2946dup (p.Ser983LeufsTer?)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.16986887_16986889delinsGAACA1156050500ATP13A2c.3151_3153delinsTTC (p.Phe1051=)
c.3019_3021delinsTTC (p.Phe1007=)
c.3136_3138delinsTTC (p.Phe1046=)
n.1025_1027delinsTTC
c.739_741delinsTTC (p.Phe247=)
c.3148_3150delinsTTC (p.Phe1050=)
c.3124_3126delinsTTC (p.Phe1042=)
c.3091_3093delinsTTC (p.Phe1031=)
c.3034_3036delinsTTC (p.Phe1012=)
c.3133_3135delinsTTC (p.Phe1045=)
c.3109_3111delinsTTC (p.Phe1037=)
c.2944_2946delinsTTC (p.Phe982=)
c.3106_3108delinsTTC (p.Phe1036=)
1g.16986888A>CCA338233618ATP13A2c.3152T>G (p.Phe1051Cys)
c.3020T>G (p.Phe1007Cys)
c.3137T>G (p.Phe1046Cys)
n.1026T>G
c.740T>G (p.Phe247Cys)
c.3149T>G (p.Phe1050Cys)
c.3125T>G (p.Phe1042Cys)
c.3092T>G (p.Phe1031Cys)
c.3035T>G (p.Phe1012Cys)
c.3134T>G (p.Phe1045Cys)
c.3110T>G (p.Phe1037Cys)
c.2945T>G (p.Phe982Cys)
c.3107T>G (p.Phe1036Cys)
1g.16986888A>GCA338233623ATP13A2c.3152T>C (p.Phe1051Ser)
c.3020T>C (p.Phe1007Ser)
c.3137T>C (p.Phe1046Ser)
n.1026T>C
c.740T>C (p.Phe247Ser)
c.3149T>C (p.Phe1050Ser)
c.3125T>C (p.Phe1042Ser)
c.3092T>C (p.Phe1031Ser)
c.3035T>C (p.Phe1012Ser)
c.3134T>C (p.Phe1045Ser)
c.3110T>C (p.Phe1037Ser)
c.2945T>C (p.Phe982Ser)
c.3107T>C (p.Phe1036Ser)
1g.16986888A>TCA338233624ATP13A2c.3152T>A (p.Phe1051Tyr)
c.3020T>A (p.Phe1007Tyr)
c.3137T>A (p.Phe1046Tyr)
n.1026T>A
c.740T>A (p.Phe247Tyr)
c.3149T>A (p.Phe1050Tyr)
c.3125T>A (p.Phe1042Tyr)
c.3092T>A (p.Phe1031Tyr)
c.3035T>A (p.Phe1012Tyr)
c.3134T>A (p.Phe1045Tyr)
c.3110T>A (p.Phe1037Tyr)
c.2945T>A (p.Phe982Tyr)
c.3107T>A (p.Phe1036Tyr)
1g.16986888_16986889delCA1156050503ATP13A2c.3151_3152del (p.Phe1051LeufsTer?)
c.3019_3020del (p.Phe1007LeufsTer28)
c.3136_3137del (p.Phe1046LeufsTer?)
n.1025_1026del
c.739_740del (p.Phe247LeufsTer28)
c.3151_3152del (p.Phe1051LeufsTer28)
c.3148_3149del (p.Phe1050LeufsTer28)
c.3136_3137del (p.Phe1046LeufsTer28)
c.3124_3125del (p.Phe1042LeufsTer28)
c.3091_3092del (p.Phe1031LeufsTer28)
c.3034_3035del (p.Phe1012LeufsTer28)
c.3133_3134del (p.Phe1045LeufsTer28)
c.3109_3110del (p.Phe1037LeufsTer28)
c.2944_2945del (p.Phe982LeufsTer28)
c.3133_3134del (p.Phe1045LeufsTer?)
c.3109_3110del (p.Phe1037LeufsTer?)
c.3106_3107del (p.Phe1036LeufsTer?)
c.3034_3035del (p.Phe1012LeufsTer?)
c.3019_3020del (p.Phe1007LeufsTer?)
c.2944_2945del (p.Phe982LeufsTer?)
 ClinVar dbSNP
1g.16986889delCA2643671211ATP13A2c.3152del (p.Phe1051SerfsTer?)
c.3020del (p.Phe1007SerfsTer?)
c.3137del (p.Phe1046SerfsTer?)
n.1026del
c.740del (p.Phe247SerfsTer?)
c.3149del (p.Phe1050SerfsTer?)
c.3125del (p.Phe1042SerfsTer?)
c.3092del (p.Phe1031SerfsTer?)
c.3035del (p.Phe1012SerfsTer?)
c.3134del (p.Phe1045SerfsTer?)
c.3110del (p.Phe1037SerfsTer?)
c.2945del (p.Phe982SerfsTer?)
c.3107del (p.Phe1036SerfsTer?)
 gnomAD v4
1g.16986889A=CA1156050507ATP13A2c.3151T= (p.Phe1051=)
c.3019T= (p.Phe1007=)
c.3136T= (p.Phe1046=)
n.1025T=
c.739T= (p.Phe247=)
c.3148T= (p.Phe1050=)
c.3124T= (p.Phe1042=)
c.3091T= (p.Phe1031=)
c.3034T= (p.Phe1012=)
c.3133T= (p.Phe1045=)
c.3109T= (p.Phe1037=)
c.2944T= (p.Phe982=)
c.3106T= (p.Phe1036=)
1g.16986889A>CCA338233625ATP13A2c.3151T>G (p.Phe1051Val)
c.3019T>G (p.Phe1007Val)
c.3136T>G (p.Phe1046Val)
n.1025T>G
c.739T>G (p.Phe247Val)
c.3148T>G (p.Phe1050Val)
c.3124T>G (p.Phe1042Val)
c.3091T>G (p.Phe1031Val)
c.3034T>G (p.Phe1012Val)
c.3133T>G (p.Phe1045Val)
c.3109T>G (p.Phe1037Val)
c.2944T>G (p.Phe982Val)
c.3106T>G (p.Phe1036Val)
 dbSNP gnomAD v2 gnomAD v4
1g.16986889A>GCA338233627ATP13A2c.3151T>C (p.Phe1051Leu)
c.3019T>C (p.Phe1007Leu)
c.3136T>C (p.Phe1046Leu)
n.1025T>C
c.739T>C (p.Phe247Leu)
c.3148T>C (p.Phe1050Leu)
c.3124T>C (p.Phe1042Leu)
c.3091T>C (p.Phe1031Leu)
c.3034T>C (p.Phe1012Leu)
c.3133T>C (p.Phe1045Leu)
c.3109T>C (p.Phe1037Leu)
c.2944T>C (p.Phe982Leu)
c.3106T>C (p.Phe1036Leu)
1g.16986889A>TCA338233628ATP13A2c.3151T>A (p.Phe1051Ile)
c.3019T>A (p.Phe1007Ile)
c.3136T>A (p.Phe1046Ile)
n.1025T>A
c.739T>A (p.Phe247Ile)
c.3148T>A (p.Phe1050Ile)
c.3124T>A (p.Phe1042Ile)
c.3091T>A (p.Phe1031Ile)
c.3034T>A (p.Phe1012Ile)
c.3133T>A (p.Phe1045Ile)
c.3109T>A (p.Phe1037Ile)
c.2944T>A (p.Phe982Ile)
c.3106T>A (p.Phe1036Ile)
1g.16986890G>ACA416093727ATP13A2c.3150C>T (p.Val1050=)
c.3018C>T (p.Val1006=)
c.3135C>T (p.Val1045=)
n.1024C>T
c.738C>T (p.Val246=)
c.3147C>T (p.Val1049=)
c.3123C>T (p.Val1041=)
c.3090C>T (p.Val1030=)
c.3033C>T (p.Val1011=)
c.3132C>T (p.Val1044=)
c.3108C>T (p.Val1036=)
c.2943C>T (p.Val981=)
c.3105C>T (p.Val1035=)
 gnomAD v4
1g.16986890G>CCA416093728ATP13A2c.3150C>G (p.Val1050=)
c.3018C>G (p.Val1006=)
c.3135C>G (p.Val1045=)
n.1024C>G
c.738C>G (p.Val246=)
c.3147C>G (p.Val1049=)
c.3123C>G (p.Val1041=)
c.3090C>G (p.Val1030=)
c.3033C>G (p.Val1011=)
c.3132C>G (p.Val1044=)
c.3108C>G (p.Val1036=)
c.2943C>G (p.Val981=)
c.3105C>G (p.Val1035=)
 COSMIC COSMIC
1g.16986890G>TCA416093729ATP13A2c.3150C>A (p.Val1050=)
c.3018C>A (p.Val1006=)
c.3135C>A (p.Val1045=)
n.1024C>A
c.738C>A (p.Val246=)
c.3147C>A (p.Val1049=)
c.3123C>A (p.Val1041=)
c.3090C>A (p.Val1030=)
c.3033C>A (p.Val1011=)
c.3132C>A (p.Val1044=)
c.3108C>A (p.Val1036=)
c.2943C>A (p.Val981=)
c.3105C>A (p.Val1035=)
1g.16986891A>CCA338233634ATP13A2c.3149T>G (p.Val1050Gly)
c.3017T>G (p.Val1006Gly)
c.3134T>G (p.Val1045Gly)
n.1023T>G
c.737T>G (p.Val246Gly)
c.3146T>G (p.Val1049Gly)
c.3122T>G (p.Val1041Gly)
c.3089T>G (p.Val1030Gly)
c.3032T>G (p.Val1011Gly)
c.3131T>G (p.Val1044Gly)
c.3107T>G (p.Val1036Gly)
c.2942T>G (p.Val981Gly)
c.3104T>G (p.Val1035Gly)
1g.16986891A>GCA338233633ATP13A2c.3149T>C (p.Val1050Ala)
c.3017T>C (p.Val1006Ala)
c.3134T>C (p.Val1045Ala)
n.1023T>C
c.737T>C (p.Val246Ala)
c.3146T>C (p.Val1049Ala)
c.3122T>C (p.Val1041Ala)
c.3089T>C (p.Val1030Ala)
c.3032T>C (p.Val1011Ala)
c.3131T>C (p.Val1044Ala)
c.3107T>C (p.Val1036Ala)
c.2942T>C (p.Val981Ala)
c.3104T>C (p.Val1035Ala)
1g.16986891A>TCA338233630ATP13A2c.3149T>A (p.Val1050Asp)
c.3017T>A (p.Val1006Asp)
c.3134T>A (p.Val1045Asp)
n.1023T>A
c.737T>A (p.Val246Asp)
c.3146T>A (p.Val1049Asp)
c.3122T>A (p.Val1041Asp)
c.3089T>A (p.Val1030Asp)
c.3032T>A (p.Val1011Asp)
c.3131T>A (p.Val1044Asp)
c.3107T>A (p.Val1036Asp)
c.2942T>A (p.Val981Asp)
c.3104T>A (p.Val1035Asp)
 gnomAD v4
1g.16986892C>ACA338233636ATP13A2c.3148G>T (p.Val1050Phe)
c.3016G>T (p.Val1006Phe)
c.3133G>T (p.Val1045Phe)
n.1022G>T
c.736G>T (p.Val246Phe)
c.3145G>T (p.Val1049Phe)
c.3121G>T (p.Val1041Phe)
c.3088G>T (p.Val1030Phe)
c.3031G>T (p.Val1011Phe)
c.3130G>T (p.Val1044Phe)
c.3106G>T (p.Val1036Phe)
c.2941G>T (p.Val981Phe)
c.3103G>T (p.Val1035Phe)
1g.16986892C>GCA338233637ATP13A2c.3148G>C (p.Val1050Leu)
c.3016G>C (p.Val1006Leu)
c.3133G>C (p.Val1045Leu)
n.1022G>C
c.736G>C (p.Val246Leu)
c.3145G>C (p.Val1049Leu)
c.3121G>C (p.Val1041Leu)
c.3088G>C (p.Val1030Leu)
c.3031G>C (p.Val1011Leu)
c.3130G>C (p.Val1044Leu)
c.3106G>C (p.Val1036Leu)
c.2941G>C (p.Val981Leu)
c.3103G>C (p.Val1035Leu)
1g.16986892C>TCA338233639ATP13A2c.3148G>A (p.Val1050Ile)
c.3016G>A (p.Val1006Ile)
c.3133G>A (p.Val1045Ile)
n.1022G>A
c.736G>A (p.Val246Ile)
c.3145G>A (p.Val1049Ile)
c.3121G>A (p.Val1041Ile)
c.3088G>A (p.Val1030Ile)
c.3031G>A (p.Val1011Ile)
c.3130G>A (p.Val1044Ile)
c.3106G>A (p.Val1036Ile)
c.2941G>A (p.Val981Ile)
c.3103G>A (p.Val1035Ile)
1g.16986893C>ACA416093731ATP13A2c.3147G>T (p.Val1049=)
c.3015G>T (p.Val1005=)
c.3132G>T (p.Val1044=)
n.1021G>T
c.735G>T (p.Val245=)
c.3144G>T (p.Val1048=)
c.3120G>T (p.Val1040=)
c.3087G>T (p.Val1029=)
c.3030G>T (p.Val1010=)
c.3129G>T (p.Val1043=)
c.3105G>T (p.Val1035=)
c.2940G>T (p.Val980=)
c.3102G>T (p.Val1034=)
1g.16986893C>GCA416093732ATP13A2c.3147G>C (p.Val1049=)
c.3015G>C (p.Val1005=)
c.3132G>C (p.Val1044=)
n.1021G>C
c.735G>C (p.Val245=)
c.3144G>C (p.Val1048=)
c.3120G>C (p.Val1040=)
c.3087G>C (p.Val1029=)
c.3030G>C (p.Val1010=)
c.3129G>C (p.Val1043=)
c.3105G>C (p.Val1035=)
c.2940G>C (p.Val980=)
c.3102G>C (p.Val1034=)
1g.16986893C>TCA416093733ATP13A2c.3147G>A (p.Val1049=)
c.3015G>A (p.Val1005=)
c.3132G>A (p.Val1044=)
n.1021G>A
c.735G>A (p.Val245=)
c.3144G>A (p.Val1048=)
c.3120G>A (p.Val1040=)
c.3087G>A (p.Val1029=)
c.3030G>A (p.Val1010=)
c.3129G>A (p.Val1043=)
c.3105G>A (p.Val1035=)
c.2940G>A (p.Val980=)
c.3102G>A (p.Val1034=)
1g.16986894A>CCA338233641ATP13A2c.3146T>G (p.Val1049Gly)
c.3014T>G (p.Val1005Gly)
c.3131T>G (p.Val1044Gly)
n.1020T>G
c.734T>G (p.Val245Gly)
c.3143T>G (p.Val1048Gly)
c.3119T>G (p.Val1040Gly)
c.3086T>G (p.Val1029Gly)
c.3029T>G (p.Val1010Gly)
c.3128T>G (p.Val1043Gly)
c.3104T>G (p.Val1035Gly)
c.2939T>G (p.Val980Gly)
c.3101T>G (p.Val1034Gly)
1g.16986894A>GCA338233642ATP13A2c.3146T>C (p.Val1049Ala)
c.3014T>C (p.Val1005Ala)
c.3131T>C (p.Val1044Ala)
n.1020T>C
c.734T>C (p.Val245Ala)
c.3143T>C (p.Val1048Ala)
c.3119T>C (p.Val1040Ala)
c.3086T>C (p.Val1029Ala)
c.3029T>C (p.Val1010Ala)
c.3128T>C (p.Val1043Ala)
c.3104T>C (p.Val1035Ala)
c.2939T>C (p.Val980Ala)
c.3101T>C (p.Val1034Ala)
1g.16986894A>TCA338233646ATP13A2c.3146T>A (p.Val1049Glu)
c.3014T>A (p.Val1005Glu)
c.3131T>A (p.Val1044Glu)
n.1020T>A
c.734T>A (p.Val245Glu)
c.3143T>A (p.Val1048Glu)
c.3119T>A (p.Val1040Glu)
c.3086T>A (p.Val1029Glu)
c.3029T>A (p.Val1010Glu)
c.3128T>A (p.Val1043Glu)
c.3104T>A (p.Val1035Glu)
c.2939T>A (p.Val980Glu)
c.3101T>A (p.Val1034Glu)
1g.16986895C>ACA338233647ATP13A2c.3145G>T (p.Val1049Leu)
c.3013G>T (p.Val1005Leu)
c.3130G>T (p.Val1044Leu)
n.1019G>T
c.733G>T (p.Val245Leu)
c.3142G>T (p.Val1048Leu)
c.3118G>T (p.Val1040Leu)
c.3085G>T (p.Val1029Leu)
c.3028G>T (p.Val1010Leu)
c.3127G>T (p.Val1043Leu)
c.3103G>T (p.Val1035Leu)
c.2938G>T (p.Val980Leu)
c.3100G>T (p.Val1034Leu)
1g.16986895C=CA1156050512ATP13A2c.3145G= (p.Val1049=)
c.3013G= (p.Val1005=)
c.3130G= (p.Val1044=)
n.1019G=
c.733G= (p.Val245=)
c.3142G= (p.Val1048=)
c.3118G= (p.Val1040=)
c.3085G= (p.Val1029=)
c.3028G= (p.Val1010=)
c.3127G= (p.Val1043=)
c.3103G= (p.Val1035=)
c.2938G= (p.Val980=)
c.3100G= (p.Val1034=)
1g.16986895C>GCA338233648ATP13A2c.3145G>C (p.Val1049Leu)
c.3013G>C (p.Val1005Leu)
c.3130G>C (p.Val1044Leu)
n.1019G>C
c.733G>C (p.Val245Leu)
c.3142G>C (p.Val1048Leu)
c.3118G>C (p.Val1040Leu)
c.3085G>C (p.Val1029Leu)
c.3028G>C (p.Val1010Leu)
c.3127G>C (p.Val1043Leu)
c.3103G>C (p.Val1035Leu)
c.2938G>C (p.Val980Leu)
c.3100G>C (p.Val1034Leu)
1g.16986895C>TCA636589ATP13A2c.3145G>A (p.Val1049Met)
c.3013G>A (p.Val1005Met)
c.3130G>A (p.Val1044Met)
n.1019G>A
c.733G>A (p.Val245Met)
c.3142G>A (p.Val1048Met)
c.3118G>A (p.Val1040Met)
c.3085G>A (p.Val1029Met)
c.3028G>A (p.Val1010Met)
c.3127G>A (p.Val1043Met)
c.3103G>A (p.Val1035Met)
c.2938G>A (p.Val980Met)
c.3100G>A (p.Val1034Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.16986896G>ACA416093735ATP13A2c.3144C>T (p.Thr1048=)
c.3012C>T (p.Thr1004=)
c.3129C>T (p.Thr1043=)
n.1018C>T
c.732C>T (p.Thr244=)
c.3141C>T (p.Thr1047=)
c.3117C>T (p.Thr1039=)
c.3084C>T (p.Thr1028=)
c.3027C>T (p.Thr1009=)
c.3126C>T (p.Thr1042=)
c.3102C>T (p.Thr1034=)
c.2937C>T (p.Thr979=)
c.3099C>T (p.Thr1033=)
 ClinVar dbSNP gnomAD v4
1g.16986896G>CCA151957ATP13A2c.3144C>G (p.Thr1048=)
c.3012C>G (p.Thr1004=)
c.3129C>G (p.Thr1043=)
n.1018C>G
c.732C>G (p.Thr244=)
c.3141C>G (p.Thr1047=)
c.3117C>G (p.Thr1039=)
c.3084C>G (p.Thr1028=)
c.3027C>G (p.Thr1009=)
c.3126C>G (p.Thr1042=)
c.3102C>G (p.Thr1034=)
c.2937C>G (p.Thr979=)
c.3099C>G (p.Thr1033=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.16986896G=CA1140633704ATP13A2c.3144C= (p.Thr1048=)
c.3012C= (p.Thr1004=)
c.3129C= (p.Thr1043=)
n.1018C=
c.732C= (p.Thr244=)
c.3141C= (p.Thr1047=)
c.3117C= (p.Thr1039=)
c.3084C= (p.Thr1028=)
c.3027C= (p.Thr1009=)
c.3126C= (p.Thr1042=)
c.3102C= (p.Thr1034=)
c.2937C= (p.Thr979=)
c.3099C= (p.Thr1033=)
1g.16986896G>TCA416093736ATP13A2c.3144C>A (p.Thr1048=)
c.3012C>A (p.Thr1004=)
c.3129C>A (p.Thr1043=)
n.1018C>A
c.732C>A (p.Thr244=)
c.3141C>A (p.Thr1047=)
c.3117C>A (p.Thr1039=)
c.3084C>A (p.Thr1028=)
c.3027C>A (p.Thr1009=)
c.3126C>A (p.Thr1042=)
c.3102C>A (p.Thr1034=)
c.2937C>A (p.Thr979=)
c.3099C>A (p.Thr1033=)
 dbSNP gnomAD v4
1g.16986897G>ACA338233654ATP13A2c.3143C>T (p.Thr1048Ile)
c.3011C>T (p.Thr1004Ile)
c.3128C>T (p.Thr1043Ile)
n.1017C>T
c.731C>T (p.Thr244Ile)
c.3140C>T (p.Thr1047Ile)
c.3116C>T (p.Thr1039Ile)
c.3083C>T (p.Thr1028Ile)
c.3026C>T (p.Thr1009Ile)
c.3125C>T (p.Thr1042Ile)
c.3101C>T (p.Thr1034Ile)
c.2936C>T (p.Thr979Ile)
c.3098C>T (p.Thr1033Ile)
1g.16986897G>CCA338233655ATP13A2c.3143C>G (p.Thr1048Ser)
c.3011C>G (p.Thr1004Ser)
c.3128C>G (p.Thr1043Ser)
n.1017C>G
c.731C>G (p.Thr244Ser)
c.3140C>G (p.Thr1047Ser)
c.3116C>G (p.Thr1039Ser)
c.3083C>G (p.Thr1028Ser)
c.3026C>G (p.Thr1009Ser)
c.3125C>G (p.Thr1042Ser)
c.3101C>G (p.Thr1034Ser)
c.2936C>G (p.Thr979Ser)
c.3098C>G (p.Thr1033Ser)
1g.16986897G>TCA338233656ATP13A2c.3143C>A (p.Thr1048Asn)
c.3011C>A (p.Thr1004Asn)
c.3128C>A (p.Thr1043Asn)
n.1017C>A
c.731C>A (p.Thr244Asn)
c.3140C>A (p.Thr1047Asn)
c.3116C>A (p.Thr1039Asn)
c.3083C>A (p.Thr1028Asn)
c.3026C>A (p.Thr1009Asn)
c.3125C>A (p.Thr1042Asn)
c.3101C>A (p.Thr1034Asn)
c.2936C>A (p.Thr979Asn)
c.3098C>A (p.Thr1033Asn)
1g.16986898T>ACA338233658ATP13A2c.3142A>T (p.Thr1048Ser)
c.3010A>T (p.Thr1004Ser)
c.3127A>T (p.Thr1043Ser)
n.1016A>T
c.730A>T (p.Thr244Ser)
c.3139A>T (p.Thr1047Ser)
c.3115A>T (p.Thr1039Ser)
c.3082A>T (p.Thr1028Ser)
c.3025A>T (p.Thr1009Ser)
c.3124A>T (p.Thr1042Ser)
c.3100A>T (p.Thr1034Ser)
c.2935A>T (p.Thr979Ser)
c.3097A>T (p.Thr1033Ser)
1g.16986898T>CCA338233659ATP13A2c.3142A>G (p.Thr1048Ala)
c.3010A>G (p.Thr1004Ala)
c.3127A>G (p.Thr1043Ala)
n.1016A>G
c.730A>G (p.Thr244Ala)
c.3139A>G (p.Thr1047Ala)
c.3115A>G (p.Thr1039Ala)
c.3082A>G (p.Thr1028Ala)
c.3025A>G (p.Thr1009Ala)
c.3124A>G (p.Thr1042Ala)
c.3100A>G (p.Thr1034Ala)
c.2935A>G (p.Thr979Ala)
c.3097A>G (p.Thr1033Ala)
1g.16986898T>GCA338233657ATP13A2c.3142A>C (p.Thr1048Pro)
c.3010A>C (p.Thr1004Pro)
c.3127A>C (p.Thr1043Pro)
n.1016A>C
c.730A>C (p.Thr244Pro)
c.3139A>C (p.Thr1047Pro)
c.3115A>C (p.Thr1039Pro)
c.3082A>C (p.Thr1028Pro)
c.3025A>C (p.Thr1009Pro)
c.3124A>C (p.Thr1042Pro)
c.3100A>C (p.Thr1034Pro)
c.2935A>C (p.Thr979Pro)
c.3097A>C (p.Thr1033Pro)
1g.16986899G>ACA416093743ATP13A2c.3141C>T (p.Asn1047=)
c.3009C>T (p.Asn1003=)
c.3126C>T (p.Asn1042=)
n.1015C>T
c.729C>T (p.Asn243=)
c.3138C>T (p.Asn1046=)
c.3114C>T (p.Asn1038=)
c.3081C>T (p.Asn1027=)
c.3024C>T (p.Asn1008=)
c.3123C>T (p.Asn1041=)
c.3099C>T (p.Asn1033=)
c.2934C>T (p.Asn978=)
c.3096C>T (p.Asn1032=)
 dbSNP
1g.16986899G>CCA338233662ATP13A2c.3141C>G (p.Asn1047Lys)
c.3009C>G (p.Asn1003Lys)
c.3126C>G (p.Asn1042Lys)
n.1015C>G
c.729C>G (p.Asn243Lys)
c.3138C>G (p.Asn1046Lys)
c.3114C>G (p.Asn1038Lys)
c.3081C>G (p.Asn1027Lys)
c.3024C>G (p.Asn1008Lys)
c.3123C>G (p.Asn1041Lys)
c.3099C>G (p.Asn1033Lys)
c.2934C>G (p.Asn978Lys)
c.3096C>G (p.Asn1032Lys)
1g.16986899G=CA1156050524ATP13A2c.3141C= (p.Asn1047=)
c.3009C= (p.Asn1003=)
c.3126C= (p.Asn1042=)
n.1015C=
c.729C= (p.Asn243=)
c.3138C= (p.Asn1046=)
c.3114C= (p.Asn1038=)
c.3081C= (p.Asn1027=)
c.3024C= (p.Asn1008=)
c.3123C= (p.Asn1041=)
c.3099C= (p.Asn1033=)
c.2934C= (p.Asn978=)
c.3096C= (p.Asn1032=)
1g.16986899G>TCA338233671ATP13A2c.3141C>A (p.Asn1047Lys)
c.3009C>A (p.Asn1003Lys)
c.3126C>A (p.Asn1042Lys)
n.1015C>A
c.729C>A (p.Asn243Lys)
c.3138C>A (p.Asn1046Lys)
c.3114C>A (p.Asn1038Lys)
c.3081C>A (p.Asn1027Lys)
c.3024C>A (p.Asn1008Lys)
c.3123C>A (p.Asn1041Lys)
c.3099C>A (p.Asn1033Lys)
c.2934C>A (p.Asn978Lys)
c.3096C>A (p.Asn1032Lys)
1g.16986900T>ACA338233674ATP13A2c.3140A>T (p.Asn1047Ile)
c.3008A>T (p.Asn1003Ile)
c.3125A>T (p.Asn1042Ile)
n.1014A>T
c.728A>T (p.Asn243Ile)
c.3137A>T (p.Asn1046Ile)
c.3113A>T (p.Asn1038Ile)
c.3080A>T (p.Asn1027Ile)
c.3023A>T (p.Asn1008Ile)
c.3122A>T (p.Asn1041Ile)
c.3098A>T (p.Asn1033Ile)
c.2933A>T (p.Asn978Ile)
c.3095A>T (p.Asn1032Ile)
1g.16986900T>CCA338233677ATP13A2c.3140A>G (p.Asn1047Ser)
c.3008A>G (p.Asn1003Ser)
c.3125A>G (p.Asn1042Ser)
n.1014A>G
c.728A>G (p.Asn243Ser)
c.3137A>G (p.Asn1046Ser)
c.3113A>G (p.Asn1038Ser)
c.3080A>G (p.Asn1027Ser)
c.3023A>G (p.Asn1008Ser)
c.3122A>G (p.Asn1041Ser)
c.3098A>G (p.Asn1033Ser)
c.2933A>G (p.Asn978Ser)
c.3095A>G (p.Asn1032Ser)
1g.16986900T>GCA338233678ATP13A2c.3140A>C (p.Asn1047Thr)
c.3008A>C (p.Asn1003Thr)
c.3125A>C (p.Asn1042Thr)
n.1014A>C
c.728A>C (p.Asn243Thr)
c.3137A>C (p.Asn1046Thr)
c.3113A>C (p.Asn1038Thr)
c.3080A>C (p.Asn1027Thr)
c.3023A>C (p.Asn1008Thr)
c.3122A>C (p.Asn1041Thr)
c.3098A>C (p.Asn1033Thr)
c.2933A>C (p.Asn978Thr)
c.3095A>C (p.Asn1032Thr)
1g.16986901T>ACA338233681ATP13A2c.3139A>T (p.Asn1047Tyr)
c.3007A>T (p.Asn1003Tyr)
c.3124A>T (p.Asn1042Tyr)
n.1013A>T
c.727A>T (p.Asn243Tyr)
c.3136A>T (p.Asn1046Tyr)
c.3112A>T (p.Asn1038Tyr)
c.3079A>T (p.Asn1027Tyr)
c.3022A>T (p.Asn1008Tyr)
c.3121A>T (p.Asn1041Tyr)
c.3097A>T (p.Asn1033Tyr)
c.2932A>T (p.Asn978Tyr)
c.3094A>T (p.Asn1032Tyr)
1g.16986901T>CCA338233683ATP13A2c.3139A>G (p.Asn1047Asp)
c.3007A>G (p.Asn1003Asp)
c.3124A>G (p.Asn1042Asp)
n.1013A>G
c.727A>G (p.Asn243Asp)
c.3136A>G (p.Asn1046Asp)
c.3112A>G (p.Asn1038Asp)
c.3079A>G (p.Asn1027Asp)
c.3022A>G (p.Asn1008Asp)
c.3121A>G (p.Asn1041Asp)
c.3097A>G (p.Asn1033Asp)
c.2932A>G (p.Asn978Asp)
c.3094A>G (p.Asn1032Asp)
1g.16986901T>GCA338233684ATP13A2c.3139A>C (p.Asn1047His)
c.3007A>C (p.Asn1003His)
c.3124A>C (p.Asn1042His)
n.1013A>C
c.727A>C (p.Asn243His)
c.3136A>C (p.Asn1046His)
c.3112A>C (p.Asn1038His)
c.3079A>C (p.Asn1027His)
c.3022A>C (p.Asn1008His)
c.3121A>C (p.Asn1041His)
c.3097A>C (p.Asn1033His)
c.2932A>C (p.Asn978His)
c.3094A>C (p.Asn1032His)
1g.16986902C>ACA338233685ATP13A2c.3138G>T (p.Glu1046Asp)
c.3006G>T (p.Glu1002Asp)
c.3123G>T (p.Glu1041Asp)
n.1012G>T
c.726G>T (p.Glu242Asp)
c.3135G>T (p.Glu1045Asp)
c.3111G>T (p.Glu1037Asp)
c.3078G>T (p.Glu1026Asp)
c.3021G>T (p.Glu1007Asp)
c.3120G>T (p.Glu1040Asp)
c.3096G>T (p.Glu1032Asp)
c.2931G>T (p.Glu977Asp)
c.3093G>T (p.Glu1031Asp)
1g.16986902C>GCA338233689ATP13A2c.3138G>C (p.Glu1046Asp)
c.3006G>C (p.Glu1002Asp)
c.3123G>C (p.Glu1041Asp)
n.1012G>C
c.726G>C (p.Glu242Asp)
c.3135G>C (p.Glu1045Asp)
c.3111G>C (p.Glu1037Asp)
c.3078G>C (p.Glu1026Asp)
c.3021G>C (p.Glu1007Asp)
c.3120G>C (p.Glu1040Asp)
c.3096G>C (p.Glu1032Asp)
c.2931G>C (p.Glu977Asp)
c.3093G>C (p.Glu1031Asp)
 COSMIC COSMIC
1g.16986902C>TCA416093746ATP13A2c.3138G>A (p.Glu1046=)
c.3006G>A (p.Glu1002=)
c.3123G>A (p.Glu1041=)
n.1012G>A
c.726G>A (p.Glu242=)
c.3135G>A (p.Glu1045=)
c.3111G>A (p.Glu1037=)
c.3078G>A (p.Glu1026=)
c.3021G>A (p.Glu1007=)
c.3120G>A (p.Glu1040=)
c.3096G>A (p.Glu1032=)
c.2931G>A (p.Glu977=)
c.3093G>A (p.Glu1031=)
 gnomAD v4
1g.16986903T>ACA338233691ATP13A2c.3137A>T (p.Glu1046Val)
c.3005A>T (p.Glu1002Val)
c.3122A>T (p.Glu1041Val)
n.1011A>T
c.725A>T (p.Glu242Val)
c.3134A>T (p.Glu1045Val)
c.3110A>T (p.Glu1037Val)
c.3077A>T (p.Glu1026Val)
c.3020A>T (p.Glu1007Val)
c.3119A>T (p.Glu1040Val)
c.3095A>T (p.Glu1032Val)
c.2930A>T (p.Glu977Val)
c.3092A>T (p.Glu1031Val)
1g.16986903T>CCA338233694ATP13A2c.3137A>G (p.Glu1046Gly)
c.3005A>G (p.Glu1002Gly)
c.3122A>G (p.Glu1041Gly)
n.1011A>G
c.725A>G (p.Glu242Gly)
c.3134A>G (p.Glu1045Gly)
c.3110A>G (p.Glu1037Gly)
c.3077A>G (p.Glu1026Gly)
c.3020A>G (p.Glu1007Gly)
c.3119A>G (p.Glu1040Gly)
c.3095A>G (p.Glu1032Gly)
c.2930A>G (p.Glu977Gly)
c.3092A>G (p.Glu1031Gly)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.16986903T>GCA338233695ATP13A2c.3137A>C (p.Glu1046Ala)
c.3005A>C (p.Glu1002Ala)
c.3122A>C (p.Glu1041Ala)
n.1011A>C
c.725A>C (p.Glu242Ala)
c.3134A>C (p.Glu1045Ala)
c.3110A>C (p.Glu1037Ala)
c.3077A>C (p.Glu1026Ala)
c.3020A>C (p.Glu1007Ala)
c.3119A>C (p.Glu1040Ala)
c.3095A>C (p.Glu1032Ala)
c.2930A>C (p.Glu977Ala)
c.3092A>C (p.Glu1031Ala)
1g.16986903T=CA1156050530ATP13A2c.3137A= (p.Glu1046=)
c.3005A= (p.Glu1002=)
c.3122A= (p.Glu1041=)
n.1011A=
c.725A= (p.Glu242=)
c.3134A= (p.Glu1045=)
c.3110A= (p.Glu1037=)
c.3077A= (p.Glu1026=)
c.3020A= (p.Glu1007=)
c.3119A= (p.Glu1040=)
c.3095A= (p.Glu1032=)
c.2930A= (p.Glu977=)
c.3092A= (p.Glu1031=)
1g.16986904C>ACA338233699ATP13A2c.3136G>T (p.Glu1046Ter)
c.3004G>T (p.Glu1002Ter)
c.3121G>T (p.Glu1041Ter)
n.1010G>T
c.724G>T (p.Glu242Ter)
c.3133G>T (p.Glu1045Ter)
c.3109G>T (p.Glu1037Ter)
c.3076G>T (p.Glu1026Ter)
c.3019G>T (p.Glu1007Ter)
c.3118G>T (p.Glu1040Ter)
c.3094G>T (p.Glu1032Ter)
c.2929G>T (p.Glu977Ter)
c.3091G>T (p.Glu1031Ter)
 ClinVar dbSNP
1g.16986904C=CA1156050534ATP13A2c.3136G= (p.Glu1046=)
c.3004G= (p.Glu1002=)
c.3121G= (p.Glu1041=)
n.1010G=
c.724G= (p.Glu242=)
c.3133G= (p.Glu1045=)
c.3109G= (p.Glu1037=)
c.3076G= (p.Glu1026=)
c.3019G= (p.Glu1007=)
c.3118G= (p.Glu1040=)
c.3094G= (p.Glu1032=)
c.2929G= (p.Glu977=)
c.3091G= (p.Glu1031=)
1g.16986904C>GCA338233707ATP13A2c.3136G>C (p.Glu1046Gln)
c.3004G>C (p.Glu1002Gln)
c.3121G>C (p.Glu1041Gln)
n.1010G>C
c.724G>C (p.Glu242Gln)
c.3133G>C (p.Glu1045Gln)
c.3109G>C (p.Glu1037Gln)
c.3076G>C (p.Glu1026Gln)
c.3019G>C (p.Glu1007Gln)
c.3118G>C (p.Glu1040Gln)
c.3094G>C (p.Glu1032Gln)
c.2929G>C (p.Glu977Gln)
c.3091G>C (p.Glu1031Gln)
1g.16986904C>TCA338233700ATP13A2c.3136G>A (p.Glu1046Lys)
c.3004G>A (p.Glu1002Lys)
c.3121G>A (p.Glu1041Lys)
n.1010G>A
c.724G>A (p.Glu242Lys)
c.3133G>A (p.Glu1045Lys)
c.3109G>A (p.Glu1037Lys)
c.3076G>A (p.Glu1026Lys)
c.3019G>A (p.Glu1007Lys)
c.3118G>A (p.Glu1040Lys)
c.3094G>A (p.Glu1032Lys)
c.2929G>A (p.Glu977Lys)
c.3091G>A (p.Glu1031Lys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.16986905delCA2586964000ATP13A2c.3135del (p.Tyr1045Ter)
c.3003del (p.Tyr1001Ter)
c.3120del (p.Tyr1040Ter)
n.1009del
c.723del (p.Tyr241Ter)
c.3132del (p.Tyr1044Ter)
c.3108del (p.Tyr1036Ter)
c.3075del (p.Tyr1025Ter)
c.3018del (p.Tyr1006Ter)
c.3117del (p.Tyr1039Ter)
c.3093del (p.Tyr1031Ter)
c.2928del (p.Tyr976Ter)
c.3090del (p.Tyr1030Ter)
1g.16986905G>ACA18625785ATP13A2c.3135C>T (p.Tyr1045=)
c.3003C>T (p.Tyr1001=)
c.3120C>T (p.Tyr1040=)
n.1009C>T
c.723C>T (p.Tyr241=)
c.3132C>T (p.Tyr1044=)
c.3108C>T (p.Tyr1036=)
c.3075C>T (p.Tyr1025=)
c.3018C>T (p.Tyr1006=)
c.3117C>T (p.Tyr1039=)
c.3093C>T (p.Tyr1031=)
c.2928C>T (p.Tyr976=)
c.3090C>T (p.Tyr1030=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
1g.16986905G>CCA338233719ATP13A2c.3135C>G (p.Tyr1045Ter)
c.3003C>G (p.Tyr1001Ter)
c.3120C>G (p.Tyr1040Ter)
n.1009C>G
c.723C>G (p.Tyr241Ter)
c.3132C>G (p.Tyr1044Ter)
c.3108C>G (p.Tyr1036Ter)
c.3075C>G (p.Tyr1025Ter)
c.3018C>G (p.Tyr1006Ter)
c.3117C>G (p.Tyr1039Ter)
c.3093C>G (p.Tyr1031Ter)
c.2928C>G (p.Tyr976Ter)
c.3090C>G (p.Tyr1030Ter)
1g.16986905G=CA1156050537ATP13A2c.3135C= (p.Tyr1045=)
c.3003C= (p.Tyr1001=)
c.3120C= (p.Tyr1040=)
n.1009C=
c.723C= (p.Tyr241=)
c.3132C= (p.Tyr1044=)
c.3108C= (p.Tyr1036=)
c.3075C= (p.Tyr1025=)
c.3018C= (p.Tyr1006=)
c.3117C= (p.Tyr1039=)
c.3093C= (p.Tyr1031=)
c.2928C= (p.Tyr976=)
c.3090C= (p.Tyr1030=)
1g.16986905G>TCA338233721ATP13A2c.3135C>A (p.Tyr1045Ter)
c.3003C>A (p.Tyr1001Ter)
c.3120C>A (p.Tyr1040Ter)
n.1009C>A
c.723C>A (p.Tyr241Ter)
c.3132C>A (p.Tyr1044Ter)
c.3108C>A (p.Tyr1036Ter)
c.3075C>A (p.Tyr1025Ter)
c.3018C>A (p.Tyr1006Ter)
c.3117C>A (p.Tyr1039Ter)
c.3093C>A (p.Tyr1031Ter)
c.2928C>A (p.Tyr976Ter)
c.3090C>A (p.Tyr1030Ter)
1g.16986906T>ACA338233726ATP13A2c.3134A>T (p.Tyr1045Phe)
c.3002A>T (p.Tyr1001Phe)
c.3119A>T (p.Tyr1040Phe)
n.1008A>T
c.722A>T (p.Tyr241Phe)
c.3131A>T (p.Tyr1044Phe)
c.3107A>T (p.Tyr1036Phe)
c.3074A>T (p.Tyr1025Phe)
c.3017A>T (p.Tyr1006Phe)
c.3116A>T (p.Tyr1039Phe)
c.3092A>T (p.Tyr1031Phe)
c.2927A>T (p.Tyr976Phe)
c.3089A>T (p.Tyr1030Phe)
1g.16986906T>CCA338233729ATP13A2c.3134A>G (p.Tyr1045Cys)
c.3002A>G (p.Tyr1001Cys)
c.3119A>G (p.Tyr1040Cys)
n.1008A>G
c.722A>G (p.Tyr241Cys)
c.3131A>G (p.Tyr1044Cys)
c.3107A>G (p.Tyr1036Cys)
c.3074A>G (p.Tyr1025Cys)
c.3017A>G (p.Tyr1006Cys)
c.3116A>G (p.Tyr1039Cys)
c.3092A>G (p.Tyr1031Cys)
c.2927A>G (p.Tyr976Cys)
c.3089A>G (p.Tyr1030Cys)
 dbSNP
1g.16986906T>GCA338233733ATP13A2c.3134A>C (p.Tyr1045Ser)
c.3002A>C (p.Tyr1001Ser)
c.3119A>C (p.Tyr1040Ser)
n.1008A>C
c.722A>C (p.Tyr241Ser)
c.3131A>C (p.Tyr1044Ser)
c.3107A>C (p.Tyr1036Ser)
c.3074A>C (p.Tyr1025Ser)
c.3017A>C (p.Tyr1006Ser)
c.3116A>C (p.Tyr1039Ser)
c.3092A>C (p.Tyr1031Ser)
c.2927A>C (p.Tyr976Ser)
c.3089A>C (p.Tyr1030Ser)
1g.16986906T=CA1156050546ATP13A2c.3134A= (p.Tyr1045=)
c.3002A= (p.Tyr1001=)
c.3119A= (p.Tyr1040=)
n.1008A=
c.722A= (p.Tyr241=)
c.3131A= (p.Tyr1044=)
c.3107A= (p.Tyr1036=)
c.3074A= (p.Tyr1025=)
c.3017A= (p.Tyr1006=)
c.3116A= (p.Tyr1039=)
c.3092A= (p.Tyr1031=)
c.2927A= (p.Tyr976=)
c.3089A= (p.Tyr1030=)
1g.16986907A>CCA338233735ATP13A2c.3133T>G (p.Tyr1045Asp)
c.3001T>G (p.Tyr1001Asp)
c.3118T>G (p.Tyr1040Asp)
n.1007T>G
c.721T>G (p.Tyr241Asp)
c.3130T>G (p.Tyr1044Asp)
c.3106T>G (p.Tyr1036Asp)
c.3073T>G (p.Tyr1025Asp)
c.3016T>G (p.Tyr1006Asp)
c.3115T>G (p.Tyr1039Asp)
c.3091T>G (p.Tyr1031Asp)
c.2926T>G (p.Tyr976Asp)
c.3088T>G (p.Tyr1030Asp)
1g.16986907A>GCA338233738ATP13A2c.3133T>C (p.Tyr1045His)
c.3001T>C (p.Tyr1001His)
c.3118T>C (p.Tyr1040His)
n.1007T>C
c.721T>C (p.Tyr241His)
c.3130T>C (p.Tyr1044His)
c.3106T>C (p.Tyr1036His)
c.3073T>C (p.Tyr1025His)
c.3016T>C (p.Tyr1006His)
c.3115T>C (p.Tyr1039His)
c.3091T>C (p.Tyr1031His)
c.2926T>C (p.Tyr976His)
c.3088T>C (p.Tyr1030His)
1g.16986907A>TCA338233739ATP13A2c.3133T>A (p.Tyr1045Asn)
c.3001T>A (p.Tyr1001Asn)
c.3118T>A (p.Tyr1040Asn)
n.1007T>A
c.721T>A (p.Tyr241Asn)
c.3130T>A (p.Tyr1044Asn)
c.3106T>A (p.Tyr1036Asn)
c.3073T>A (p.Tyr1025Asn)
c.3016T>A (p.Tyr1006Asn)
c.3115T>A (p.Tyr1039Asn)
c.3091T>A (p.Tyr1031Asn)
c.2926T>A (p.Tyr976Asn)
c.3088T>A (p.Tyr1030Asn)
1g.16986908G>ACA416093754ATP13A2c.3132C>T (p.Asn1044=)
c.3000C>T (p.Asn1000=)
c.3117C>T (p.Asn1039=)
n.1006C>T
c.720C>T (p.Asn240=)
c.3129C>T (p.Asn1043=)
c.3105C>T (p.Asn1035=)
c.3072C>T (p.Asn1024=)
c.3015C>T (p.Asn1005=)
c.3114C>T (p.Asn1038=)
c.3090C>T (p.Asn1030=)
c.2925C>T (p.Asn975=)
c.3087C>T (p.Asn1029=)
1g.16986908G>CCA338233741ATP13A2c.3132C>G (p.Asn1044Lys)
c.3000C>G (p.Asn1000Lys)
c.3117C>G (p.Asn1039Lys)
n.1006C>G
c.720C>G (p.Asn240Lys)
c.3129C>G (p.Asn1043Lys)
c.3105C>G (p.Asn1035Lys)
c.3072C>G (p.Asn1024Lys)
c.3015C>G (p.Asn1005Lys)
c.3114C>G (p.Asn1038Lys)
c.3090C>G (p.Asn1030Lys)
c.2925C>G (p.Asn975Lys)
c.3087C>G (p.Asn1029Lys)
1g.16986908G>TCA338233742ATP13A2c.3132C>A (p.Asn1044Lys)
c.3000C>A (p.Asn1000Lys)
c.3117C>A (p.Asn1039Lys)
n.1006C>A
c.720C>A (p.Asn240Lys)
c.3129C>A (p.Asn1043Lys)
c.3105C>A (p.Asn1035Lys)
c.3072C>A (p.Asn1024Lys)
c.3015C>A (p.Asn1005Lys)
c.3114C>A (p.Asn1038Lys)
c.3090C>A (p.Asn1030Lys)
c.2925C>A (p.Asn975Lys)
c.3087C>A (p.Asn1029Lys)
1g.16986909T>ACA338233744ATP13A2c.3131A>T (p.Asn1044Ile)
c.2999A>T (p.Asn1000Ile)
c.3116A>T (p.Asn1039Ile)
n.1005A>T
c.719A>T (p.Asn240Ile)
c.3128A>T (p.Asn1043Ile)
c.3104A>T (p.Asn1035Ile)
c.3071A>T (p.Asn1024Ile)
c.3014A>T (p.Asn1005Ile)
c.3113A>T (p.Asn1038Ile)
c.3089A>T (p.Asn1030Ile)
c.2924A>T (p.Asn975Ile)
c.3086A>T (p.Asn1029Ile)
1g.16986909T>CCA636590ATP13A2c.3131A>G (p.Asn1044Ser)
c.2999A>G (p.Asn1000Ser)
c.3116A>G (p.Asn1039Ser)
n.1005A>G
c.719A>G (p.Asn240Ser)
c.3128A>G (p.Asn1043Ser)
c.3104A>G (p.Asn1035Ser)
c.3071A>G (p.Asn1024Ser)
c.3014A>G (p.Asn1005Ser)
c.3113A>G (p.Asn1038Ser)
c.3089A>G (p.Asn1030Ser)
c.2924A>G (p.Asn975Ser)
c.3086A>G (p.Asn1029Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.16986909T>GCA636591ATP13A2c.3131A>C (p.Asn1044Thr)
c.2999A>C (p.Asn1000Thr)
c.3116A>C (p.Asn1039Thr)
n.1005A>C
c.719A>C (p.Asn240Thr)
c.3128A>C (p.Asn1043Thr)
c.3104A>C (p.Asn1035Thr)
c.3071A>C (p.Asn1024Thr)
c.3014A>C (p.Asn1005Thr)
c.3113A>C (p.Asn1038Thr)
c.3089A>C (p.Asn1030Thr)
c.2924A>C (p.Asn975Thr)
c.3086A>C (p.Asn1029Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.16986909T=CA1142143434ATP13A2c.3131A= (p.Asn1044=)
c.2999A= (p.Asn1000=)
c.3116A= (p.Asn1039=)
n.1005A=
c.719A= (p.Asn240=)
c.3128A= (p.Asn1043=)
c.3104A= (p.Asn1035=)
c.3071A= (p.Asn1024=)
c.3014A= (p.Asn1005=)
c.3113A= (p.Asn1038=)
c.3089A= (p.Asn1030=)
c.2924A= (p.Asn975=)
c.3086A= (p.Asn1029=)
1g.16986910T>ACA338233752ATP13A2c.3130A>T (p.Asn1044Tyr)
c.2998A>T (p.Asn1000Tyr)
c.3115A>T (p.Asn1039Tyr)
n.1004A>T
c.718A>T (p.Asn240Tyr)
c.3127A>T (p.Asn1043Tyr)
c.3103A>T (p.Asn1035Tyr)
c.3070A>T (p.Asn1024Tyr)
c.3013A>T (p.Asn1005Tyr)
c.3112A>T (p.Asn1038Tyr)
c.3088A>T (p.Asn1030Tyr)
c.2923A>T (p.Asn975Tyr)
c.3085A>T (p.Asn1029Tyr)
1g.16986910T>CCA338233747ATP13A2c.3130A>G (p.Asn1044Asp)
c.2998A>G (p.Asn1000Asp)
c.3115A>G (p.Asn1039Asp)
n.1004A>G
c.718A>G (p.Asn240Asp)
c.3127A>G (p.Asn1043Asp)
c.3103A>G (p.Asn1035Asp)
c.3070A>G (p.Asn1024Asp)
c.3013A>G (p.Asn1005Asp)
c.3112A>G (p.Asn1038Asp)
c.3088A>G (p.Asn1030Asp)
c.2923A>G (p.Asn975Asp)
c.3085A>G (p.Asn1029Asp)
1g.16986910T>GCA338233756ATP13A2c.3130A>C (p.Asn1044His)
c.2998A>C (p.Asn1000His)
c.3115A>C (p.Asn1039His)
n.1004A>C
c.718A>C (p.Asn240His)
c.3127A>C (p.Asn1043His)
c.3103A>C (p.Asn1035His)
c.3070A>C (p.Asn1024His)
c.3013A>C (p.Asn1005His)
c.3112A>C (p.Asn1038His)
c.3088A>C (p.Asn1030His)
c.2923A>C (p.Asn975His)
c.3085A>C (p.Asn1029His)
1g.16986911G>ACA416093755ATP13A2c.3129C>T (p.Pro1043=)
c.2997C>T (p.Pro999=)
c.3114C>T (p.Pro1038=)
n.1003C>T
c.717C>T (p.Pro239=)
c.3126C>T (p.Pro1042=)
c.3102C>T (p.Pro1034=)
c.3069C>T (p.Pro1023=)
c.3012C>T (p.Pro1004=)
c.3111C>T (p.Pro1037=)
c.3087C>T (p.Pro1029=)
c.2922C>T (p.Pro974=)
c.3084C>T (p.Pro1028=)
1g.16986911G>CCA636592ATP13A2c.3129C>G (p.Pro1043=)
c.2997C>G (p.Pro999=)
c.3114C>G (p.Pro1038=)
n.1003C>G
c.717C>G (p.Pro239=)
c.3126C>G (p.Pro1042=)
c.3102C>G (p.Pro1034=)
c.3069C>G (p.Pro1023=)
c.3012C>G (p.Pro1004=)
c.3111C>G (p.Pro1037=)
c.3087C>G (p.Pro1029=)
c.2922C>G (p.Pro974=)
c.3084C>G (p.Pro1028=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.16986911G=CA1156050556ATP13A2c.3129C= (p.Pro1043=)
c.2997C= (p.Pro999=)
c.3114C= (p.Pro1038=)
n.1003C=
c.717C= (p.Pro239=)
c.3126C= (p.Pro1042=)
c.3102C= (p.Pro1034=)
c.3069C= (p.Pro1023=)
c.3012C= (p.Pro1004=)
c.3111C= (p.Pro1037=)
c.3087C= (p.Pro1029=)
c.2922C= (p.Pro974=)
c.3084C= (p.Pro1028=)
1g.16986911G>TCA416093756ATP13A2c.3129C>A (p.Pro1043=)
c.2997C>A (p.Pro999=)
c.3114C>A (p.Pro1038=)
n.1003C>A
c.717C>A (p.Pro239=)
c.3126C>A (p.Pro1042=)
c.3102C>A (p.Pro1034=)
c.3069C>A (p.Pro1023=)
c.3012C>A (p.Pro1004=)
c.3111C>A (p.Pro1037=)
c.3087C>A (p.Pro1029=)
c.2922C>A (p.Pro974=)
c.3084C>A (p.Pro1028=)
1g.16986912G>ACA338233759ATP13A2c.3128C>T (p.Pro1043Leu)
c.2996C>T (p.Pro999Leu)
c.3113C>T (p.Pro1038Leu)
n.1002C>T
c.716C>T (p.Pro239Leu)
c.3125C>T (p.Pro1042Leu)
c.3101C>T (p.Pro1034Leu)
c.3068C>T (p.Pro1023Leu)
c.3011C>T (p.Pro1004Leu)
c.3110C>T (p.Pro1037Leu)
c.3086C>T (p.Pro1029Leu)
c.2921C>T (p.Pro974Leu)
c.3083C>T (p.Pro1028Leu)
1g.16986912G>CCA338233761ATP13A2c.3128C>G (p.Pro1043Arg)
c.2996C>G (p.Pro999Arg)
c.3113C>G (p.Pro1038Arg)
n.1002C>G
c.716C>G (p.Pro239Arg)
c.3125C>G (p.Pro1042Arg)
c.3101C>G (p.Pro1034Arg)
c.3068C>G (p.Pro1023Arg)
c.3011C>G (p.Pro1004Arg)
c.3110C>G (p.Pro1037Arg)
c.3086C>G (p.Pro1029Arg)
c.2921C>G (p.Pro974Arg)
c.3083C>G (p.Pro1028Arg)
 gnomAD v4
1g.16986912G>TCA338233776ATP13A2c.3128C>A (p.Pro1043His)
c.2996C>A (p.Pro999His)
c.3113C>A (p.Pro1038His)
n.1002C>A
c.716C>A (p.Pro239His)
c.3125C>A (p.Pro1042His)
c.3101C>A (p.Pro1034His)
c.3068C>A (p.Pro1023His)
c.3011C>A (p.Pro1004His)
c.3110C>A (p.Pro1037His)
c.3086C>A (p.Pro1029His)
c.2921C>A (p.Pro974His)
c.3083C>A (p.Pro1028His)
1g.16986913G>ACA338233780ATP13A2c.3127C>T (p.Pro1043Ser)
c.2995C>T (p.Pro999Ser)
c.3112C>T (p.Pro1038Ser)
n.1001C>T
c.715C>T (p.Pro239Ser)
c.3124C>T (p.Pro1042Ser)
c.3100C>T (p.Pro1034Ser)
c.3067C>T (p.Pro1023Ser)
c.3010C>T (p.Pro1004Ser)
c.3109C>T (p.Pro1037Ser)
c.3085C>T (p.Pro1029Ser)
c.2920C>T (p.Pro974Ser)
c.3082C>T (p.Pro1028Ser)
 gnomAD v4
1g.16986913G>CCA338233781ATP13A2c.3127C>G (p.Pro1043Ala)
c.2995C>G (p.Pro999Ala)
c.3112C>G (p.Pro1038Ala)
n.1001C>G
c.715C>G (p.Pro239Ala)
c.3124C>G (p.Pro1042Ala)
c.3100C>G (p.Pro1034Ala)
c.3067C>G (p.Pro1023Ala)
c.3010C>G (p.Pro1004Ala)
c.3109C>G (p.Pro1037Ala)
c.3085C>G (p.Pro1029Ala)
c.2920C>G (p.Pro974Ala)
c.3082C>G (p.Pro1028Ala)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.16986913G=CA1156050563ATP13A2c.3127C= (p.Pro1043=)
c.2995C= (p.Pro999=)
c.3112C= (p.Pro1038=)
n.1001C=
c.715C= (p.Pro239=)
c.3124C= (p.Pro1042=)
c.3100C= (p.Pro1034=)
c.3067C= (p.Pro1023=)
c.3010C= (p.Pro1004=)
c.3109C= (p.Pro1037=)
c.3085C= (p.Pro1029=)
c.2920C= (p.Pro974=)
c.3082C= (p.Pro1028=)
1g.16986913G>TCA338233786ATP13A2c.3127C>A (p.Pro1043Thr)
c.2995C>A (p.Pro999Thr)
c.3112C>A (p.Pro1038Thr)
n.1001C>A
c.715C>A (p.Pro239Thr)
c.3124C>A (p.Pro1042Thr)
c.3100C>A (p.Pro1034Thr)
c.3067C>A (p.Pro1023Thr)
c.3010C>A (p.Pro1004Thr)
c.3109C>A (p.Pro1037Thr)
c.3085C>A (p.Pro1029Thr)
c.2920C>A (p.Pro974Thr)
c.3082C>A (p.Pro1028Thr)
1g.16986914C>ACA416093757ATP13A2c.3126G>T (p.Leu1042=)
c.2994G>T (p.Leu998=)
c.3111G>T (p.Leu1037=)
n.1000G>T
c.714G>T (p.Leu238=)
c.3123G>T (p.Leu1041=)
c.3099G>T (p.Leu1033=)
c.3066G>T (p.Leu1022=)
c.3009G>T (p.Leu1003=)
c.3108G>T (p.Leu1036=)
c.3084G>T (p.Leu1028=)
c.2919G>T (p.Leu973=)
c.3081G>T (p.Leu1027=)
1g.16986914C=CA1156050572ATP13A2c.3126G= (p.Leu1042=)
c.2994G= (p.Leu998=)
c.3111G= (p.Leu1037=)
n.1000G=
c.714G= (p.Leu238=)
c.3123G= (p.Leu1041=)
c.3099G= (p.Leu1033=)
c.3066G= (p.Leu1022=)
c.3009G= (p.Leu1003=)
c.3108G= (p.Leu1036=)
c.3084G= (p.Leu1028=)
c.2919G= (p.Leu973=)
c.3081G= (p.Leu1027=)
1g.16986914C>GCA636593ATP13A2c.3126G>C (p.Leu1042=)
c.2994G>C (p.Leu998=)
c.3111G>C (p.Leu1037=)
n.1000G>C
c.714G>C (p.Leu238=)
c.3123G>C (p.Leu1041=)
c.3099G>C (p.Leu1033=)
c.3066G>C (p.Leu1022=)
c.3009G>C (p.Leu1003=)
c.3108G>C (p.Leu1036=)
c.3084G>C (p.Leu1028=)
c.2919G>C (p.Leu973=)
c.3081G>C (p.Leu1027=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.16986914C>TCA416093758ATP13A2c.3126G>A (p.Leu1042=)
c.2994G>A (p.Leu998=)
c.3111G>A (p.Leu1037=)
n.1000G>A
c.714G>A (p.Leu238=)
c.3123G>A (p.Leu1041=)
c.3099G>A (p.Leu1033=)
c.3066G>A (p.Leu1022=)
c.3009G>A (p.Leu1003=)
c.3108G>A (p.Leu1036=)
c.3084G>A (p.Leu1028=)
c.2919G>A (p.Leu973=)
c.3081G>A (p.Leu1027=)
1g.16986915A>CCA338233790ATP13A2c.3125T>G (p.Leu1042Arg)
c.2993T>G (p.Leu998Arg)
c.3110T>G (p.Leu1037Arg)
n.999T>G
c.713T>G (p.Leu238Arg)
c.3122T>G (p.Leu1041Arg)
c.3098T>G (p.Leu1033Arg)
c.3065T>G (p.Leu1022Arg)
c.3008T>G (p.Leu1003Arg)
c.3107T>G (p.Leu1036Arg)
c.3083T>G (p.Leu1028Arg)
c.2918T>G (p.Leu973Arg)
c.3080T>G (p.Leu1027Arg)
1g.16986915A>GCA338233793ATP13A2c.3125T>C (p.Leu1042Pro)
c.2993T>C (p.Leu998Pro)
c.3110T>C (p.Leu1037Pro)
n.999T>C
c.713T>C (p.Leu238Pro)
c.3122T>C (p.Leu1041Pro)
c.3098T>C (p.Leu1033Pro)
c.3065T>C (p.Leu1022Pro)
c.3008T>C (p.Leu1003Pro)
c.3107T>C (p.Leu1036Pro)
c.3083T>C (p.Leu1028Pro)
c.2918T>C (p.Leu973Pro)
c.3080T>C (p.Leu1027Pro)
1g.16986915A>TCA338233798ATP13A2c.3125T>A (p.Leu1042Gln)
c.2993T>A (p.Leu998Gln)
c.3110T>A (p.Leu1037Gln)
n.999T>A
c.713T>A (p.Leu238Gln)
c.3122T>A (p.Leu1041Gln)
c.3098T>A (p.Leu1033Gln)
c.3065T>A (p.Leu1022Gln)
c.3008T>A (p.Leu1003Gln)
c.3107T>A (p.Leu1036Gln)
c.3083T>A (p.Leu1028Gln)
c.2918T>A (p.Leu973Gln)
c.3080T>A (p.Leu1027Gln)
1g.16986916G>ACA416093761ATP13A2c.3124C>T (p.Leu1042=)
c.2992C>T (p.Leu998=)
c.3109C>T (p.Leu1037=)
n.998C>T
c.712C>T (p.Leu238=)
c.3121C>T (p.Leu1041=)
c.3097C>T (p.Leu1033=)
c.3064C>T (p.Leu1022=)
c.3007C>T (p.Leu1003=)
c.3106C>T (p.Leu1036=)
c.3082C>T (p.Leu1028=)
c.2917C>T (p.Leu973=)
c.3079C>T (p.Leu1027=)
1g.16986916G>CCA338233800ATP13A2c.3124C>G (p.Leu1042Val)
c.2992C>G (p.Leu998Val)
c.3109C>G (p.Leu1037Val)
n.998C>G
c.712C>G (p.Leu238Val)
c.3121C>G (p.Leu1041Val)
c.3097C>G (p.Leu1033Val)
c.3064C>G (p.Leu1022Val)
c.3007C>G (p.Leu1003Val)
c.3106C>G (p.Leu1036Val)
c.3082C>G (p.Leu1028Val)
c.2917C>G (p.Leu973Val)
c.3079C>G (p.Leu1027Val)
1g.16986916G>TCA338233801ATP13A2c.3124C>A (p.Leu1042Met)
c.2992C>A (p.Leu998Met)
c.3109C>A (p.Leu1037Met)
n.998C>A
c.712C>A (p.Leu238Met)
c.3121C>A (p.Leu1041Met)
c.3097C>A (p.Leu1033Met)
c.3064C>A (p.Leu1022Met)
c.3007C>A (p.Leu1003Met)
c.3106C>A (p.Leu1036Met)
c.3082C>A (p.Leu1028Met)
c.2917C>A (p.Leu973Met)
c.3079C>A (p.Leu1027Met)
1g.16986917G>ACA416093762ATP13A2c.3123C>T (p.Asn1041=)
c.2991C>T (p.Asn997=)
c.3108C>T (p.Asn1036=)
n.997C>T
c.711C>T (p.Asn237=)
c.3120C>T (p.Asn1040=)
c.3096C>T (p.Asn1032=)
c.3063C>T (p.Asn1021=)
c.3006C>T (p.Asn1002=)
c.3105C>T (p.Asn1035=)
c.3081C>T (p.Asn1027=)
c.2916C>T (p.Asn972=)
c.3078C>T (p.Asn1026=)
1g.16986917G>CCA338233802ATP13A2c.3123C>G (p.Asn1041Lys)
c.2991C>G (p.Asn997Lys)
c.3108C>G (p.Asn1036Lys)
n.997C>G
c.711C>G (p.Asn237Lys)
c.3120C>G (p.Asn1040Lys)
c.3096C>G (p.Asn1032Lys)
c.3063C>G (p.Asn1021Lys)
c.3006C>G (p.Asn1002Lys)
c.3105C>G (p.Asn1035Lys)
c.3081C>G (p.Asn1027Lys)
c.2916C>G (p.Asn972Lys)
c.3078C>G (p.Asn1026Lys)
1g.16986917G>TCA338233804ATP13A2c.3123C>A (p.Asn1041Lys)
c.2991C>A (p.Asn997Lys)
c.3108C>A (p.Asn1036Lys)
n.997C>A
c.711C>A (p.Asn237Lys)
c.3120C>A (p.Asn1040Lys)
c.3096C>A (p.Asn1032Lys)
c.3063C>A (p.Asn1021Lys)
c.3006C>A (p.Asn1002Lys)
c.3105C>A (p.Asn1035Lys)
c.3081C>A (p.Asn1027Lys)
c.2916C>A (p.Asn972Lys)
c.3078C>A (p.Asn1026Lys)
1g.16986918T>ACA338233806ATP13A2c.3122A>T (p.Asn1041Ile)
c.2990A>T (p.Asn997Ile)
c.3107A>T (p.Asn1036Ile)
n.996A>T
c.710A>T (p.Asn237Ile)
c.3119A>T (p.Asn1040Ile)
c.3095A>T (p.Asn1032Ile)
c.3062A>T (p.Asn1021Ile)
c.3005A>T (p.Asn1002Ile)
c.3104A>T (p.Asn1035Ile)
c.3080A>T (p.Asn1027Ile)
c.2915A>T (p.Asn972Ile)
c.3077A>T (p.Asn1026Ile)
1g.16986918T>CCA338233807ATP13A2c.3122A>G (p.Asn1041Ser)
c.2990A>G (p.Asn997Ser)
c.3107A>G (p.Asn1036Ser)
n.996A>G
c.710A>G (p.Asn237Ser)
c.3119A>G (p.Asn1040Ser)
c.3095A>G (p.Asn1032Ser)
c.3062A>G (p.Asn1021Ser)
c.3005A>G (p.Asn1002Ser)
c.3104A>G (p.Asn1035Ser)
c.3080A>G (p.Asn1027Ser)
c.2915A>G (p.Asn972Ser)
c.3077A>G (p.Asn1026Ser)
 dbSNP gnomAD v2 gnomAD v4
1g.16986918T>GCA338233809ATP13A2c.3122A>C (p.Asn1041Thr)
c.2990A>C (p.Asn997Thr)
c.3107A>C (p.Asn1036Thr)
n.996A>C
c.710A>C (p.Asn237Thr)
c.3119A>C (p.Asn1040Thr)
c.3095A>C (p.Asn1032Thr)
c.3062A>C (p.Asn1021Thr)
c.3005A>C (p.Asn1002Thr)
c.3104A>C (p.Asn1035Thr)
c.3080A>C (p.Asn1027Thr)
c.2915A>C (p.Asn972Thr)
c.3077A>C (p.Asn1026Thr)
 dbSNP
1g.16986918T=CA1156050580ATP13A2c.3122A= (p.Asn1041=)
c.2990A= (p.Asn997=)
c.3107A= (p.Asn1036=)
n.996A=
c.710A= (p.Asn237=)
c.3119A= (p.Asn1040=)
c.3095A= (p.Asn1032=)
c.3062A= (p.Asn1021=)
c.3005A= (p.Asn1002=)
c.3104A= (p.Asn1035=)
c.3080A= (p.Asn1027=)
c.2915A= (p.Asn972=)
c.3077A= (p.Asn1026=)
1g.16986918_16986922delinsTTGTCCA1156050577ATP13A2c.3118_3122delinsGACAA (p.Asp1040=)
c.2986_2990delinsGACAA (p.Asp996=)
c.3103_3107delinsGACAA (p.Asp1035=)
n.992_996delinsGACAA
c.706_710delinsGACAA (p.Asp236=)
c.3115_3119delinsGACAA (p.Asp1039=)
c.3091_3095delinsGACAA (p.Asp1031=)
c.3058_3062delinsGACAA (p.Asp1020=)
c.3001_3005delinsGACAA (p.Asp1001=)
c.3100_3104delinsGACAA (p.Asp1034=)
c.3076_3080delinsGACAA (p.Asp1026=)
c.2911_2915delinsGACAA (p.Asp971=)
c.3073_3077delinsGACAA (p.Asp1025=)
1g.16986919T>ACA338233813ATP13A2c.3121A>T (p.Asn1041Tyr)
c.2989A>T (p.Asn997Tyr)
c.3106A>T (p.Asn1036Tyr)
n.995A>T
c.709A>T (p.Asn237Tyr)
c.3118A>T (p.Asn1040Tyr)
c.3094A>T (p.Asn1032Tyr)
c.3061A>T (p.Asn1021Tyr)
c.3004A>T (p.Asn1002Tyr)
c.3103A>T (p.Asn1035Tyr)
c.3079A>T (p.Asn1027Tyr)
c.2914A>T (p.Asn972Tyr)
c.3076A>T (p.Asn1026Tyr)
1g.16986919T>CCA338233815ATP13A2c.3121A>G (p.Asn1041Asp)
c.2989A>G (p.Asn997Asp)
c.3106A>G (p.Asn1036Asp)
n.995A>G
c.709A>G (p.Asn237Asp)
c.3118A>G (p.Asn1040Asp)
c.3094A>G (p.Asn1032Asp)
c.3061A>G (p.Asn1021Asp)
c.3004A>G (p.Asn1002Asp)
c.3103A>G (p.Asn1035Asp)
c.3079A>G (p.Asn1027Asp)
c.2914A>G (p.Asn972Asp)
c.3076A>G (p.Asn1026Asp)
1g.16986919T>GCA338233817ATP13A2c.3121A>C (p.Asn1041His)
c.2989A>C (p.Asn997His)
c.3106A>C (p.Asn1036His)
n.995A>C
c.709A>C (p.Asn237His)
c.3118A>C (p.Asn1040His)
c.3094A>C (p.Asn1032His)
c.3061A>C (p.Asn1021His)
c.3004A>C (p.Asn1002His)
c.3103A>C (p.Asn1035His)
c.3079A>C (p.Asn1027His)
c.2914A>C (p.Asn972His)
c.3076A>C (p.Asn1026His)
1g.16986921_16986924delCA890929638ATP13A2c.3118_3121del (p.Asp1040ThrfsTer?)
c.2986_2989del (p.Asp996ThrfsTer?)
c.3103_3106del (p.Asp1035ThrfsTer?)
n.992_995del
c.706_709del (p.Asp236ThrfsTer?)
c.3115_3118del (p.Asp1039ThrfsTer?)
c.3091_3094del (p.Asp1031ThrfsTer?)
c.3058_3061del (p.Asp1020ThrfsTer?)
c.3001_3004del (p.Asp1001ThrfsTer?)
c.3100_3103del (p.Asp1034ThrfsTer?)
c.3076_3079del (p.Asp1026ThrfsTer?)
c.2911_2914del (p.Asp971ThrfsTer?)
c.3073_3076del (p.Asp1025ThrfsTer?)
 dbSNP gnomAD v3 gnomAD v4
1g.16986920G>ACA416093764ATP13A2c.3120C>T (p.Asp1040=)
c.2988C>T (p.Asp996=)
c.3105C>T (p.Asp1035=)
n.994C>T
c.708C>T (p.Asp236=)
c.3117C>T (p.Asp1039=)
c.3093C>T (p.Asp1031=)
c.3060C>T (p.Asp1020=)
c.3003C>T (p.Asp1001=)
c.3102C>T (p.Asp1034=)
c.3078C>T (p.Asp1026=)
c.2913C>T (p.Asp971=)
c.3075C>T (p.Asp1025=)
1g.16986920G>CCA338233821ATP13A2c.3120C>G (p.Asp1040Glu)
c.2988C>G (p.Asp996Glu)
c.3105C>G (p.Asp1035Glu)
n.994C>G
c.708C>G (p.Asp236Glu)
c.3117C>G (p.Asp1039Glu)
c.3093C>G (p.Asp1031Glu)
c.3060C>G (p.Asp1020Glu)
c.3003C>G (p.Asp1001Glu)
c.3102C>G (p.Asp1034Glu)
c.3078C>G (p.Asp1026Glu)
c.2913C>G (p.Asp971Glu)
c.3075C>G (p.Asp1025Glu)
1g.16986920G>TCA338233822ATP13A2c.3120C>A (p.Asp1040Glu)
c.2988C>A (p.Asp996Glu)
c.3105C>A (p.Asp1035Glu)
n.994C>A
c.708C>A (p.Asp236Glu)
c.3117C>A (p.Asp1039Glu)
c.3093C>A (p.Asp1031Glu)
c.3060C>A (p.Asp1020Glu)
c.3003C>A (p.Asp1001Glu)
c.3102C>A (p.Asp1034Glu)
c.3078C>A (p.Asp1026Glu)
c.2913C>A (p.Asp971Glu)
c.3075C>A (p.Asp1025Glu)
1g.16986921T>ACA338233825ATP13A2c.3119A>T (p.Asp1040Val)
c.2987A>T (p.Asp996Val)
c.3104A>T (p.Asp1035Val)
n.993A>T
c.707A>T (p.Asp236Val)
c.3116A>T (p.Asp1039Val)
c.3092A>T (p.Asp1031Val)
c.3059A>T (p.Asp1020Val)
c.3002A>T (p.Asp1001Val)
c.3101A>T (p.Asp1034Val)
c.3077A>T (p.Asp1026Val)
c.2912A>T (p.Asp971Val)
c.3074A>T (p.Asp1025Val)
1g.16986921T>CCA338233827ATP13A2c.3119A>G (p.Asp1040Gly)
c.2987A>G (p.Asp996Gly)
c.3104A>G (p.Asp1035Gly)
n.993A>G
c.707A>G (p.Asp236Gly)
c.3116A>G (p.Asp1039Gly)
c.3092A>G (p.Asp1031Gly)
c.3059A>G (p.Asp1020Gly)
c.3002A>G (p.Asp1001Gly)
c.3101A>G (p.Asp1034Gly)
c.3077A>G (p.Asp1026Gly)
c.2912A>G (p.Asp971Gly)
c.3074A>G (p.Asp1025Gly)
1g.16986921T>GCA338233831ATP13A2c.3119A>C (p.Asp1040Ala)
c.2987A>C (p.Asp996Ala)
c.3104A>C (p.Asp1035Ala)
n.993A>C
c.707A>C (p.Asp236Ala)
c.3116A>C (p.Asp1039Ala)
c.3092A>C (p.Asp1031Ala)
c.3059A>C (p.Asp1020Ala)
c.3002A>C (p.Asp1001Ala)
c.3101A>C (p.Asp1034Ala)
c.3077A>C (p.Asp1026Ala)
c.2912A>C (p.Asp971Ala)
c.3074A>C (p.Asp1025Ala)
1g.16986922C>ACA338233848ATP13A2c.3118G>T (p.Asp1040Tyr)
c.2986G>T (p.Asp996Tyr)
c.3103G>T (p.Asp1035Tyr)
n.992G>T
c.706G>T (p.Asp236Tyr)
c.3115G>T (p.Asp1039Tyr)
c.3091G>T (p.Asp1031Tyr)
c.3058G>T (p.Asp1020Tyr)
c.3001G>T (p.Asp1001Tyr)
c.3100G>T (p.Asp1034Tyr)
c.3076G>T (p.Asp1026Tyr)
c.2911G>T (p.Asp971Tyr)
c.3073G>T (p.Asp1025Tyr)
1g.16986922C=CA1149066301ATP13A2c.3118G= (p.Asp1040=)
c.2986G= (p.Asp996=)
c.3103G= (p.Asp1035=)
n.992G=
c.706G= (p.Asp236=)
c.3115G= (p.Asp1039=)
c.3091G= (p.Asp1031=)
c.3058G= (p.Asp1020=)
c.3001G= (p.Asp1001=)
c.3100G= (p.Asp1034=)
c.3076G= (p.Asp1026=)
c.2911G= (p.Asp971=)
c.3073G= (p.Asp1025=)
1g.16986922C>GCA338233839ATP13A2c.3118G>C (p.Asp1040His)
c.2986G>C (p.Asp996His)
c.3103G>C (p.Asp1035His)
n.992G>C
c.706G>C (p.Asp236His)
c.3115G>C (p.Asp1039His)
c.3091G>C (p.Asp1031His)
c.3058G>C (p.Asp1020His)
c.3001G>C (p.Asp1001His)
c.3100G>C (p.Asp1034His)
c.3076G>C (p.Asp1026His)
c.2911G>C (p.Asp971His)
c.3073G>C (p.Asp1025His)
1g.16986922C>TCA636594ATP13A2c.3118G>A (p.Asp1040Asn)
c.2986G>A (p.Asp996Asn)
c.3103G>A (p.Asp1035Asn)
n.992G>A
c.706G>A (p.Asp236Asn)
c.3115G>A (p.Asp1039Asn)
c.3091G>A (p.Asp1031Asn)
c.3058G>A (p.Asp1020Asn)
c.3001G>A (p.Asp1001Asn)
c.3100G>A (p.Asp1034Asn)
c.3076G>A (p.Asp1026Asn)
c.2911G>A (p.Asp971Asn)
c.3073G>A (p.Asp1025Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.16986923T>ACA416093766ATP13A2c.3117A>T (p.Pro1039=)
c.2985A>T (p.Pro995=)
c.3102A>T (p.Pro1034=)
n.991A>T
c.705A>T (p.Pro235=)
c.3114A>T (p.Pro1038=)
c.3090A>T (p.Pro1030=)
c.3057A>T (p.Pro1019=)
c.3000A>T (p.Pro1000=)
c.3099A>T (p.Pro1033=)
c.3075A>T (p.Pro1025=)
c.2910A>T (p.Pro970=)
c.3072A>T (p.Pro1024=)
1g.16986923T>CCA416093767ATP13A2c.3117A>G (p.Pro1039=)
c.2985A>G (p.Pro995=)
c.3102A>G (p.Pro1034=)
n.991A>G
c.705A>G (p.Pro235=)
c.3114A>G (p.Pro1038=)
c.3090A>G (p.Pro1030=)
c.3057A>G (p.Pro1019=)
c.3000A>G (p.Pro1000=)
c.3099A>G (p.Pro1033=)
c.3075A>G (p.Pro1025=)
c.2910A>G (p.Pro970=)
c.3072A>G (p.Pro1024=)
 dbSNP gnomAD v4
1g.16986923T>GCA416093768ATP13A2c.3117A>C (p.Pro1039=)
c.2985A>C (p.Pro995=)
c.3102A>C (p.Pro1034=)
n.991A>C
c.705A>C (p.Pro235=)
c.3114A>C (p.Pro1038=)
c.3090A>C (p.Pro1030=)
c.3057A>C (p.Pro1019=)
c.3000A>C (p.Pro1000=)
c.3099A>C (p.Pro1033=)
c.3075A>C (p.Pro1025=)
c.2910A>C (p.Pro970=)
c.3072A>C (p.Pro1024=)
1g.16986923T=CA1156050593ATP13A2c.3117A= (p.Pro1039=)
c.2985A= (p.Pro995=)
c.3102A= (p.Pro1034=)
n.991A=
c.705A= (p.Pro235=)
c.3114A= (p.Pro1038=)
c.3090A= (p.Pro1030=)
c.3057A= (p.Pro1019=)
c.3000A= (p.Pro1000=)
c.3099A= (p.Pro1033=)
c.3075A= (p.Pro1025=)
c.2910A= (p.Pro970=)
c.3072A= (p.Pro1024=)
1g.16986924G>ACA338233851ATP13A2c.3116C>T (p.Pro1039Leu)
c.2984C>T (p.Pro995Leu)
c.3101C>T (p.Pro1034Leu)
n.990C>T
c.704C>T (p.Pro235Leu)
c.3113C>T (p.Pro1038Leu)
c.3089C>T (p.Pro1030Leu)
c.3056C>T (p.Pro1019Leu)
c.2999C>T (p.Pro1000Leu)
c.3098C>T (p.Pro1033Leu)
c.3074C>T (p.Pro1025Leu)
c.2909C>T (p.Pro970Leu)
c.3071C>T (p.Pro1024Leu)
1g.16986924G>CCA338233852ATP13A2c.3116C>G (p.Pro1039Arg)
c.2984C>G (p.Pro995Arg)
c.3101C>G (p.Pro1034Arg)
n.990C>G
c.704C>G (p.Pro235Arg)
c.3113C>G (p.Pro1038Arg)
c.3089C>G (p.Pro1030Arg)
c.3056C>G (p.Pro1019Arg)
c.2999C>G (p.Pro1000Arg)
c.3098C>G (p.Pro1033Arg)
c.3074C>G (p.Pro1025Arg)
c.2909C>G (p.Pro970Arg)
c.3071C>G (p.Pro1024Arg)
1g.16986924G>TCA338233855ATP13A2c.3116C>A (p.Pro1039Gln)
c.2984C>A (p.Pro995Gln)
c.3101C>A (p.Pro1034Gln)
n.990C>A
c.704C>A (p.Pro235Gln)
c.3113C>A (p.Pro1038Gln)
c.3089C>A (p.Pro1030Gln)
c.3056C>A (p.Pro1019Gln)
c.2999C>A (p.Pro1000Gln)
c.3098C>A (p.Pro1033Gln)
c.3074C>A (p.Pro1025Gln)
c.2909C>A (p.Pro970Gln)
c.3071C>A (p.Pro1024Gln)
1g.16986924_16986926delinsGGTCA1156050599ATP13A2c.3114_3116delinsACC (p.Ala1038=)
c.2982_2984delinsACC (p.Ala994=)
c.3099_3101delinsACC (p.Ala1033=)
n.988_990delinsACC
c.702_704delinsACC (p.Ala234=)
c.3111_3113delinsACC (p.Ala1037=)
c.3087_3089delinsACC (p.Ala1029=)
c.3054_3056delinsACC (p.Ala1018=)
c.2997_2999delinsACC (p.Ala999=)
c.3096_3098delinsACC (p.Ala1032=)
c.3072_3074delinsACC (p.Ala1024=)
c.2907_2909delinsACC (p.Ala969=)
c.3069_3071delinsACC (p.Ala1023=)
1g.16986925G>ACA338233856ATP13A2c.3115C>T (p.Pro1039Ser)
c.2983C>T (p.Pro995Ser)
c.3100C>T (p.Pro1034Ser)
n.989C>T
c.703C>T (p.Pro235Ser)
c.3112C>T (p.Pro1038Ser)
c.3088C>T (p.Pro1030Ser)
c.3055C>T (p.Pro1019Ser)
c.2998C>T (p.Pro1000Ser)
c.3097C>T (p.Pro1033Ser)
c.3073C>T (p.Pro1025Ser)
c.2908C>T (p.Pro970Ser)
c.3070C>T (p.Pro1024Ser)
1g.16986925G>CCA338233859ATP13A2c.3115C>G (p.Pro1039Ala)
c.2983C>G (p.Pro995Ala)
c.3100C>G (p.Pro1034Ala)
n.989C>G
c.703C>G (p.Pro235Ala)
c.3112C>G (p.Pro1038Ala)
c.3088C>G (p.Pro1030Ala)
c.3055C>G (p.Pro1019Ala)
c.2998C>G (p.Pro1000Ala)
c.3097C>G (p.Pro1033Ala)
c.3073C>G (p.Pro1025Ala)
c.2908C>G (p.Pro970Ala)
c.3070C>G (p.Pro1024Ala)
1g.16986925G>TCA338233860ATP13A2c.3115C>A (p.Pro1039Thr)
c.2983C>A (p.Pro995Thr)
c.3100C>A (p.Pro1034Thr)
n.989C>A
c.703C>A (p.Pro235Thr)
c.3112C>A (p.Pro1038Thr)
c.3088C>A (p.Pro1030Thr)
c.3055C>A (p.Pro1019Thr)
c.2998C>A (p.Pro1000Thr)
c.3097C>A (p.Pro1033Thr)
c.3073C>A (p.Pro1025Thr)
c.2908C>A (p.Pro970Thr)
c.3070C>A (p.Pro1024Thr)
1g.16986926_16986927delCA890929649ATP13A2c.3114_3115del (p.Pro1039ArgfsTer?)
c.2982_2983del (p.Pro995ArgfsTer?)
c.3099_3100del (p.Pro1034ArgfsTer?)
n.988_989del
c.702_703del (p.Pro235ArgfsTer?)
c.3111_3112del (p.Pro1038ArgfsTer?)
c.3087_3088del (p.Pro1030ArgfsTer?)
c.3054_3055del (p.Pro1019ArgfsTer?)
c.2997_2998del (p.Pro1000ArgfsTer?)
c.3096_3097del (p.Pro1033ArgfsTer?)
c.3072_3073del (p.Pro1025ArgfsTer?)
c.2907_2908del (p.Pro970ArgfsTer?)
c.3069_3070del (p.Pro1024ArgfsTer?)
 dbSNP
1g.16986926T>ACA416093772ATP13A2c.3114A>T (p.Ala1038=)
c.2982A>T (p.Ala994=)
c.3099A>T (p.Ala1033=)
n.988A>T
c.702A>T (p.Ala234=)
c.3111A>T (p.Ala1037=)
c.3087A>T (p.Ala1029=)
c.3054A>T (p.Ala1018=)
c.2997A>T (p.Ala999=)
c.3096A>T (p.Ala1032=)
c.3072A>T (p.Ala1024=)
c.2907A>T (p.Ala969=)
c.3069A>T (p.Ala1023=)
1g.16986926T>CCA416093773ATP13A2c.3114A>G (p.Ala1038=)
c.2982A>G (p.Ala994=)
c.3099A>G (p.Ala1033=)
n.988A>G
c.702A>G (p.Ala234=)
c.3111A>G (p.Ala1037=)
c.3087A>G (p.Ala1029=)
c.3054A>G (p.Ala1018=)
c.2997A>G (p.Ala999=)
c.3096A>G (p.Ala1032=)
c.3072A>G (p.Ala1024=)
c.2907A>G (p.Ala969=)
c.3069A>G (p.Ala1023=)
1g.16986926T>GCA416093775ATP13A2c.3114A>C (p.Ala1038=)
c.2982A>C (p.Ala994=)
c.3099A>C (p.Ala1033=)
n.988A>C
c.702A>C (p.Ala234=)
c.3111A>C (p.Ala1037=)
c.3087A>C (p.Ala1029=)
c.3054A>C (p.Ala1018=)
c.2997A>C (p.Ala999=)
c.3096A>C (p.Ala1032=)
c.3072A>C (p.Ala1024=)
c.2907A>C (p.Ala969=)
c.3069A>C (p.Ala1023=)
1g.16986927G>ACA338233864ATP13A2c.3113C>T (p.Ala1038Val)
c.2981C>T (p.Ala994Val)
c.3098C>T (p.Ala1033Val)
n.987C>T
c.701C>T (p.Ala234Val)
c.3110C>T (p.Ala1037Val)
c.3086C>T (p.Ala1029Val)
c.3053C>T (p.Ala1018Val)
c.2996C>T (p.Ala999Val)
c.3095C>T (p.Ala1032Val)
c.3071C>T (p.Ala1024Val)
c.2906C>T (p.Ala969Val)
c.3068C>T (p.Ala1023Val)
 dbSNP gnomAD v3 gnomAD v4
1g.16986927G>CCA338233876ATP13A2c.3113C>G (p.Ala1038Gly)
c.2981C>G (p.Ala994Gly)
c.3098C>G (p.Ala1033Gly)
n.987C>G
c.701C>G (p.Ala234Gly)
c.3110C>G (p.Ala1037Gly)
c.3086C>G (p.Ala1029Gly)
c.3053C>G (p.Ala1018Gly)
c.2996C>G (p.Ala999Gly)
c.3095C>G (p.Ala1032Gly)
c.3071C>G (p.Ala1024Gly)
c.2906C>G (p.Ala969Gly)
c.3068C>G (p.Ala1023Gly)
1g.16986927G=CA1156050606ATP13A2c.3113C= (p.Ala1038=)
c.2981C= (p.Ala994=)
c.3098C= (p.Ala1033=)
n.987C=
c.701C= (p.Ala234=)
c.3110C= (p.Ala1037=)
c.3086C= (p.Ala1029=)
c.3053C= (p.Ala1018=)
c.2996C= (p.Ala999=)
c.3095C= (p.Ala1032=)
c.3071C= (p.Ala1024=)
c.2906C= (p.Ala969=)
c.3068C= (p.Ala1023=)
1g.16986927G>TCA338233879ATP13A2c.3113C>A (p.Ala1038Glu)
c.2981C>A (p.Ala994Glu)
c.3098C>A (p.Ala1033Glu)
n.987C>A
c.701C>A (p.Ala234Glu)
c.3110C>A (p.Ala1037Glu)
c.3086C>A (p.Ala1029Glu)
c.3053C>A (p.Ala1018Glu)
c.2996C>A (p.Ala999Glu)
c.3095C>A (p.Ala1032Glu)
c.3071C>A (p.Ala1024Glu)
c.2906C>A (p.Ala969Glu)
c.3068C>A (p.Ala1023Glu)
1g.16986928C>ACA338233881ATP13A2c.3112G>T (p.Ala1038Ser)
c.2980G>T (p.Ala994Ser)
c.3097G>T (p.Ala1033Ser)
n.986G>T
c.700G>T (p.Ala234Ser)
c.3109G>T (p.Ala1037Ser)
c.3085G>T (p.Ala1029Ser)
c.3052G>T (p.Ala1018Ser)
c.2995G>T (p.Ala999Ser)
c.3094G>T (p.Ala1032Ser)
c.3070G>T (p.Ala1024Ser)
c.2905G>T (p.Ala969Ser)
c.3067G>T (p.Ala1023Ser)
1g.16986928C=CA1156050613ATP13A2c.3112G= (p.Ala1038=)
c.2980G= (p.Ala994=)
c.3097G= (p.Ala1033=)
n.986G=
c.700G= (p.Ala234=)
c.3109G= (p.Ala1037=)
c.3085G= (p.Ala1029=)
c.3052G= (p.Ala1018=)
c.2995G= (p.Ala999=)
c.3094G= (p.Ala1032=)
c.3070G= (p.Ala1024=)
c.2905G= (p.Ala969=)
c.3067G= (p.Ala1023=)
1g.16986928C>GCA338233884ATP13A2c.3112G>C (p.Ala1038Pro)
c.2980G>C (p.Ala994Pro)
c.3097G>C (p.Ala1033Pro)
n.986G>C
c.700G>C (p.Ala234Pro)
c.3109G>C (p.Ala1037Pro)
c.3085G>C (p.Ala1029Pro)
c.3052G>C (p.Ala1018Pro)
c.2995G>C (p.Ala999Pro)
c.3094G>C (p.Ala1032Pro)
c.3070G>C (p.Ala1024Pro)
c.2905G>C (p.Ala969Pro)
c.3067G>C (p.Ala1023Pro)
1g.16986928C>TCA636595ATP13A2c.3112G>A (p.Ala1038Thr)
c.2980G>A (p.Ala994Thr)
c.3097G>A (p.Ala1033Thr)
n.986G>A
c.700G>A (p.Ala234Thr)
c.3109G>A (p.Ala1037Thr)
c.3085G>A (p.Ala1029Thr)
c.3052G>A (p.Ala1018Thr)
c.2995G>A (p.Ala999Thr)
c.3094G>A (p.Ala1032Thr)
c.3070G>A (p.Ala1024Thr)
c.2905G>A (p.Ala969Thr)
c.3067G>A (p.Ala1023Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
1g.16986929G>ACA636596ATP13A2c.3111C>T (p.Ala1037=)
c.2979C>T (p.Ala993=)
c.3096C>T (p.Ala1032=)
n.985C>T
c.699C>T (p.Ala233=)
c.3108C>T (p.Ala1036=)
c.3084C>T (p.Ala1028=)
c.3051C>T (p.Ala1017=)
c.2994C>T (p.Ala998=)
c.3093C>T (p.Ala1031=)
c.3069C>T (p.Ala1023=)
c.2904C>T (p.Ala968=)
c.3066C>T (p.Ala1022=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.16986929G>CCA416093780ATP13A2c.3111C>G (p.Ala1037=)
c.2979C>G (p.Ala993=)
c.3096C>G (p.Ala1032=)
n.985C>G
c.699C>G (p.Ala233=)
c.3108C>G (p.Ala1036=)
c.3084C>G (p.Ala1028=)
c.3051C>G (p.Ala1017=)
c.2994C>G (p.Ala998=)
c.3093C>G (p.Ala1031=)
c.3069C>G (p.Ala1023=)
c.2904C>G (p.Ala968=)
c.3066C>G (p.Ala1022=)
1g.16986929G=CA1145071048ATP13A2c.3111C= (p.Ala1037=)
c.2979C= (p.Ala993=)
c.3096C= (p.Ala1032=)
n.985C=
c.699C= (p.Ala233=)
c.3108C= (p.Ala1036=)
c.3084C= (p.Ala1028=)
c.3051C= (p.Ala1017=)
c.2994C= (p.Ala998=)
c.3093C= (p.Ala1031=)
c.3069C= (p.Ala1023=)
c.2904C= (p.Ala968=)
c.3066C= (p.Ala1022=)
1g.16986929G>TCA416093779ATP13A2c.3111C>A (p.Ala1037=)
c.2979C>A (p.Ala993=)
c.3096C>A (p.Ala1032=)
n.985C>A
c.699C>A (p.Ala233=)
c.3108C>A (p.Ala1036=)
c.3084C>A (p.Ala1028=)
c.3051C>A (p.Ala1017=)
c.2994C>A (p.Ala998=)
c.3093C>A (p.Ala1031=)
c.3069C>A (p.Ala1023=)
c.2904C>A (p.Ala968=)
c.3066C>A (p.Ala1022=)
1g.16986930G>ACA338233889ATP13A2c.3110C>T (p.Ala1037Val)
c.2978C>T (p.Ala993Val)
c.3095C>T (p.Ala1032Val)
n.984C>T
c.698C>T (p.Ala233Val)
c.3107C>T (p.Ala1036Val)
c.3083C>T (p.Ala1028Val)
c.3050C>T (p.Ala1017Val)
c.2993C>T (p.Ala998Val)
c.3092C>T (p.Ala1031Val)
c.3068C>T (p.Ala1023Val)
c.2903C>T (p.Ala968Val)
c.3065C>T (p.Ala1022Val)
 gnomAD v4
1g.16986930G>CCA338233887ATP13A2c.3110C>G (p.Ala1037Gly)
c.2978C>G (p.Ala993Gly)
c.3095C>G (p.Ala1032Gly)
n.984C>G
c.698C>G (p.Ala233Gly)
c.3107C>G (p.Ala1036Gly)
c.3083C>G (p.Ala1028Gly)
c.3050C>G (p.Ala1017Gly)
c.2993C>G (p.Ala998Gly)
c.3092C>G (p.Ala1031Gly)
c.3068C>G (p.Ala1023Gly)
c.2903C>G (p.Ala968Gly)
c.3065C>G (p.Ala1022Gly)
1g.16986930G>TCA338233888ATP13A2c.3110C>A (p.Ala1037Asp)
c.2978C>A (p.Ala993Asp)
c.3095C>A (p.Ala1032Asp)
n.984C>A
c.698C>A (p.Ala233Asp)
c.3107C>A (p.Ala1036Asp)
c.3083C>A (p.Ala1028Asp)
c.3050C>A (p.Ala1017Asp)
c.2993C>A (p.Ala998Asp)
c.3092C>A (p.Ala1031Asp)
c.3068C>A (p.Ala1023Asp)
c.2903C>A (p.Ala968Asp)
c.3065C>A (p.Ala1022Asp)
1g.16986931C>ACA338233890ATP13A2c.3109G>T (p.Ala1037Ser)
c.2977G>T (p.Ala993Ser)
c.3094G>T (p.Ala1032Ser)
n.983G>T
c.697G>T (p.Ala233Ser)
c.3106G>T (p.Ala1036Ser)
c.3082G>T (p.Ala1028Ser)
c.3049G>T (p.Ala1017Ser)
c.2992G>T (p.Ala998Ser)
c.3091G>T (p.Ala1031Ser)
c.3067G>T (p.Ala1023Ser)
c.2902G>T (p.Ala968Ser)
c.3064G>T (p.Ala1022Ser)
1g.16986931C>GCA338233891ATP13A2c.3109G>C (p.Ala1037Pro)
c.2977G>C (p.Ala993Pro)
c.3094G>C (p.Ala1032Pro)
n.983G>C
c.697G>C (p.Ala233Pro)
c.3106G>C (p.Ala1036Pro)
c.3082G>C (p.Ala1028Pro)
c.3049G>C (p.Ala1017Pro)
c.2992G>C (p.Ala998Pro)
c.3091G>C (p.Ala1031Pro)
c.3067G>C (p.Ala1023Pro)
c.2902G>C (p.Ala968Pro)
c.3064G>C (p.Ala1022Pro)
 dbSNP
1g.16986931C>TCA338233894ATP13A2c.3109G>A (p.Ala1037Thr)
c.2977G>A (p.Ala993Thr)
c.3094G>A (p.Ala1032Thr)
n.983G>A
c.697G>A (p.Ala233Thr)
c.3106G>A (p.Ala1036Thr)
c.3082G>A (p.Ala1028Thr)
c.3049G>A (p.Ala1017Thr)
c.2992G>A (p.Ala998Thr)
c.3091G>A (p.Ala1031Thr)
c.3067G>A (p.Ala1023Thr)
c.2902G>A (p.Ala968Thr)
c.3064G>A (p.Ala1022Thr)
1g.16986932C>ACA18625836ATP13A2c.3108G>T (p.Val1036=)
c.2976G>T (p.Val992=)
c.3093G>T (p.Val1031=)
n.982G>T
c.696G>T (p.Val232=)
c.3105G>T (p.Val1035=)
c.3081G>T (p.Val1027=)
c.3048G>T (p.Val1016=)
c.2991G>T (p.Val997=)
c.3090G>T (p.Val1030=)
c.3066G>T (p.Val1022=)
c.2901G>T (p.Val967=)
c.3063G>T (p.Val1021=)
 dbSNP
1g.16986932C=CA1156050622ATP13A2c.3108G= (p.Val1036=)
c.2976G= (p.Val992=)
c.3093G= (p.Val1031=)
n.982G=
c.696G= (p.Val232=)
c.3105G= (p.Val1035=)
c.3081G= (p.Val1027=)
c.3048G= (p.Val1016=)
c.2991G= (p.Val997=)
c.3090G= (p.Val1030=)
c.3066G= (p.Val1022=)
c.2901G= (p.Val967=)
c.3063G= (p.Val1021=)
1g.16986932C>GCA416093791ATP13A2c.3108G>C (p.Val1036=)
c.2976G>C (p.Val992=)
c.3093G>C (p.Val1031=)
n.982G>C
c.696G>C (p.Val232=)
c.3105G>C (p.Val1035=)
c.3081G>C (p.Val1027=)
c.3048G>C (p.Val1016=)
c.2991G>C (p.Val997=)
c.3090G>C (p.Val1030=)
c.3066G>C (p.Val1022=)
c.2901G>C (p.Val967=)
c.3063G>C (p.Val1021=)
1g.16986932C>TCA416093785ATP13A2c.3108G>A (p.Val1036=)
c.2976G>A (p.Val992=)
c.3093G>A (p.Val1031=)
n.982G>A
c.696G>A (p.Val232=)
c.3105G>A (p.Val1035=)
c.3081G>A (p.Val1027=)
c.3048G>A (p.Val1016=)
c.2991G>A (p.Val997=)
c.3090G>A (p.Val1030=)
c.3066G>A (p.Val1022=)
c.2901G>A (p.Val967=)
c.3063G>A (p.Val1021=)
1g.16986933A>CCA338233896ATP13A2c.3107T>G (p.Val1036Gly)
c.2975T>G (p.Val992Gly)
c.3092T>G (p.Val1031Gly)
n.981T>G
c.695T>G (p.Val232Gly)
c.3104T>G (p.Val1035Gly)
c.3080T>G (p.Val1027Gly)
c.3047T>G (p.Val1016Gly)
c.2990T>G (p.Val997Gly)
c.3089T>G (p.Val1030Gly)
c.3065T>G (p.Val1022Gly)
c.2900T>G (p.Val967Gly)
c.3062T>G (p.Val1021Gly)
1g.16986933A>GCA338233898ATP13A2c.3107T>C (p.Val1036Ala)
c.2975T>C (p.Val992Ala)
c.3092T>C (p.Val1031Ala)
n.981T>C
c.695T>C (p.Val232Ala)
c.3104T>C (p.Val1035Ala)
c.3080T>C (p.Val1027Ala)
c.3047T>C (p.Val1016Ala)
c.2990T>C (p.Val997Ala)
c.3089T>C (p.Val1030Ala)
c.3065T>C (p.Val1022Ala)
c.2900T>C (p.Val967Ala)
c.3062T>C (p.Val1021Ala)
1g.16986933A>TCA338233902ATP13A2c.3107T>A (p.Val1036Glu)
c.2975T>A (p.Val992Glu)
c.3092T>A (p.Val1031Glu)
n.981T>A
c.695T>A (p.Val232Glu)
c.3104T>A (p.Val1035Glu)
c.3080T>A (p.Val1027Glu)
c.3047T>A (p.Val1016Glu)
c.2990T>A (p.Val997Glu)
c.3089T>A (p.Val1030Glu)
c.3065T>A (p.Val1022Glu)
c.2900T>A (p.Val967Glu)
c.3062T>A (p.Val1021Glu)
1g.16986934C>ACA338233906ATP13A2c.3106G>T (p.Val1036Leu)
c.2974G>T (p.Val992Leu)
c.3091G>T (p.Val1031Leu)
n.980G>T
c.694G>T (p.Val232Leu)
c.3103G>T (p.Val1035Leu)
c.3079G>T (p.Val1027Leu)
c.3046G>T (p.Val1016Leu)
c.2989G>T (p.Val997Leu)
c.3088G>T (p.Val1030Leu)
c.3064G>T (p.Val1022Leu)
c.2899G>T (p.Val967Leu)
c.3061G>T (p.Val1021Leu)
1g.16986934C=CA1156050627ATP13A2c.3106G= (p.Val1036=)
c.2974G= (p.Val992=)
c.3091G= (p.Val1031=)
n.980G=
c.694G= (p.Val232=)
c.3103G= (p.Val1035=)
c.3079G= (p.Val1027=)
c.3046G= (p.Val1016=)
c.2989G= (p.Val997=)
c.3088G= (p.Val1030=)
c.3064G= (p.Val1022=)
c.2899G= (p.Val967=)
c.3061G= (p.Val1021=)
1g.16986934C>GCA338233908ATP13A2c.3106G>C (p.Val1036Leu)
c.2974G>C (p.Val992Leu)
c.3091G>C (p.Val1031Leu)
n.980G>C
c.694G>C (p.Val232Leu)
c.3103G>C (p.Val1035Leu)
c.3079G>C (p.Val1027Leu)
c.3046G>C (p.Val1016Leu)
c.2989G>C (p.Val997Leu)
c.3088G>C (p.Val1030Leu)
c.3064G>C (p.Val1022Leu)
c.2899G>C (p.Val967Leu)
c.3061G>C (p.Val1021Leu)
1g.16986934C>TCA338233910ATP13A2c.3106G>A (p.Val1036Met)
c.2974G>A (p.Val992Met)
c.3091G>A (p.Val1031Met)
n.980G>A
c.694G>A (p.Val232Met)
c.3103G>A (p.Val1035Met)
c.3079G>A (p.Val1027Met)
c.3046G>A (p.Val1016Met)
c.2989G>A (p.Val997Met)
c.3088G>A (p.Val1030Met)
c.3064G>A (p.Val1022Met)
c.2899G>A (p.Val967Met)
c.3061G>A (p.Val1021Met)
 dbSNP gnomAD v3 gnomAD v4
1g.16986935T>ACA416093797ATP13A2c.3105A>T (p.Thr1035=)
c.2973A>T (p.Thr991=)
c.3090A>T (p.Thr1030=)
n.979A>T
c.693A>T (p.Thr231=)
c.3102A>T (p.Thr1034=)
c.3078A>T (p.Thr1026=)
c.3045A>T (p.Thr1015=)
c.2988A>T (p.Thr996=)
c.3087A>T (p.Thr1029=)
c.3063A>T (p.Thr1021=)
c.2898A>T (p.Thr966=)
c.3060A>T (p.Thr1020=)
1g.16986935T>CCA416093798ATP13A2c.3105A>G (p.Thr1035=)
c.2973A>G (p.Thr991=)
c.3090A>G (p.Thr1030=)
n.979A>G
c.693A>G (p.Thr231=)
c.3102A>G (p.Thr1034=)
c.3078A>G (p.Thr1026=)
c.3045A>G (p.Thr1015=)
c.2988A>G (p.Thr996=)
c.3087A>G (p.Thr1029=)
c.3063A>G (p.Thr1021=)
c.2898A>G (p.Thr966=)
c.3060A>G (p.Thr1020=)
 gnomAD v4
1g.16986935T>GCA416093799ATP13A2c.3105A>C (p.Thr1035=)
c.2973A>C (p.Thr991=)
c.3090A>C (p.Thr1030=)
n.979A>C
c.693A>C (p.Thr231=)
c.3102A>C (p.Thr1034=)
c.3078A>C (p.Thr1026=)
c.3045A>C (p.Thr1015=)
c.2988A>C (p.Thr996=)
c.3087A>C (p.Thr1029=)
c.3063A>C (p.Thr1021=)
c.2898A>C (p.Thr966=)
c.3060A>C (p.Thr1020=)
1g.16986936G>ACA636597ATP13A2c.3104C>T (p.Thr1035Ile)
c.2972C>T (p.Thr991Ile)
c.3089C>T (p.Thr1030Ile)
n.978C>T
c.692C>T (p.Thr231Ile)
c.3101C>T (p.Thr1034Ile)
c.3077C>T (p.Thr1026Ile)
c.3044C>T (p.Thr1015Ile)
c.2987C>T (p.Thr996Ile)
c.3086C>T (p.Thr1029Ile)
c.3062C>T (p.Thr1021Ile)
c.2897C>T (p.Thr966Ile)
c.3059C>T (p.Thr1020Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.16986936G>CCA338233915ATP13A2c.3104C>G (p.Thr1035Arg)
c.2972C>G (p.Thr991Arg)
c.3089C>G (p.Thr1030Arg)
n.978C>G
c.692C>G (p.Thr231Arg)
c.3101C>G (p.Thr1034Arg)
c.3077C>G (p.Thr1026Arg)
c.3044C>G (p.Thr1015Arg)
c.2987C>G (p.Thr996Arg)
c.3086C>G (p.Thr1029Arg)
c.3062C>G (p.Thr1021Arg)
c.2897C>G (p.Thr966Arg)
c.3059C>G (p.Thr1020Arg)
1g.16986936G=CA1148268916ATP13A2c.3104C= (p.Thr1035=)
c.2972C= (p.Thr991=)
c.3089C= (p.Thr1030=)
n.978C=
c.692C= (p.Thr231=)
c.3101C= (p.Thr1034=)
c.3077C= (p.Thr1026=)
c.3044C= (p.Thr1015=)
c.2987C= (p.Thr996=)
c.3086C= (p.Thr1029=)
c.3062C= (p.Thr1021=)
c.2897C= (p.Thr966=)
c.3059C= (p.Thr1020=)
1g.16986936G>TCA338233920ATP13A2c.3104C>A (p.Thr1035Lys)
c.2972C>A (p.Thr991Lys)
c.3089C>A (p.Thr1030Lys)
n.978C>A
c.692C>A (p.Thr231Lys)
c.3101C>A (p.Thr1034Lys)
c.3077C>A (p.Thr1026Lys)
c.3044C>A (p.Thr1015Lys)
c.2987C>A (p.Thr996Lys)
c.3086C>A (p.Thr1029Lys)
c.3062C>A (p.Thr1021Lys)
c.2897C>A (p.Thr966Lys)
c.3059C>A (p.Thr1020Lys)
1g.16986937T>ACA338233941ATP13A2c.3103A>T (p.Thr1035Ser)
c.2971A>T (p.Thr991Ser)
c.3088A>T (p.Thr1030Ser)
n.977A>T
c.691A>T (p.Thr231Ser)
c.3100A>T (p.Thr1034Ser)
c.3076A>T (p.Thr1026Ser)
c.3043A>T (p.Thr1015Ser)
c.2986A>T (p.Thr996Ser)
c.3085A>T (p.Thr1029Ser)
c.3061A>T (p.Thr1021Ser)
c.2896A>T (p.Thr966Ser)
c.3058A>T (p.Thr1020Ser)
1g.16986937T>CCA338233946ATP13A2c.3103A>G (p.Thr1035Ala)
c.2971A>G (p.Thr991Ala)
c.3088A>G (p.Thr1030Ala)
n.977A>G
c.691A>G (p.Thr231Ala)
c.3100A>G (p.Thr1034Ala)
c.3076A>G (p.Thr1026Ala)
c.3043A>G (p.Thr1015Ala)
c.2986A>G (p.Thr996Ala)
c.3085A>G (p.Thr1029Ala)
c.3061A>G (p.Thr1021Ala)
c.2896A>G (p.Thr966Ala)
c.3058A>G (p.Thr1020Ala)
1g.16986937T>GCA338233926ATP13A2c.3103A>C (p.Thr1035Pro)
c.2971A>C (p.Thr991Pro)
c.3088A>C (p.Thr1030Pro)
n.977A>C
c.691A>C (p.Thr231Pro)
c.3100A>C (p.Thr1034Pro)
c.3076A>C (p.Thr1026Pro)
c.3043A>C (p.Thr1015Pro)
c.2986A>C (p.Thr996Pro)
c.3085A>C (p.Thr1029Pro)
c.3061A>C (p.Thr1021Pro)
c.2896A>C (p.Thr966Pro)
c.3058A>C (p.Thr1020Pro)
1g.16986938C>ACA338233951ATP13A2c.3102G>T (p.Arg1034Ser)
c.2970G>T (p.Arg990Ser)
c.3087G>T (p.Arg1029Ser)
n.976G>T
c.690G>T (p.Arg230Ser)
c.3099G>T (p.Arg1033Ser)
c.3075G>T (p.Arg1025Ser)
c.3042G>T (p.Arg1014Ser)
c.2985G>T (p.Arg995Ser)
c.3084G>T (p.Arg1028Ser)
c.3060G>T (p.Arg1020Ser)
c.2895G>T (p.Arg965Ser)
c.3057G>T (p.Arg1019Ser)
 COSMIC COSMIC
1g.16986938C>GCA338233953ATP13A2c.3102G>C (p.Arg1034Ser)
c.2970G>C (p.Arg990Ser)
c.3087G>C (p.Arg1029Ser)
n.976G>C
c.690G>C (p.Arg230Ser)
c.3099G>C (p.Arg1033Ser)
c.3075G>C (p.Arg1025Ser)
c.3042G>C (p.Arg1014Ser)
c.2985G>C (p.Arg995Ser)
c.3084G>C (p.Arg1028Ser)
c.3060G>C (p.Arg1020Ser)
c.2895G>C (p.Arg965Ser)
c.3057G>C (p.Arg1019Ser)
1g.16986938C>TCA416093801ATP13A2c.3102G>A (p.Arg1034=)
c.2970G>A (p.Arg990=)
c.3087G>A (p.Arg1029=)
n.976G>A
c.690G>A (p.Arg230=)
c.3099G>A (p.Arg1033=)
c.3075G>A (p.Arg1025=)
c.3042G>A (p.Arg1014=)
c.2985G>A (p.Arg995=)
c.3084G>A (p.Arg1028=)
c.3060G>A (p.Arg1020=)
c.2895G>A (p.Arg965=)
c.3057G>A (p.Arg1019=)
1g.16986939C>ACA338233969ATP13A2c.3101G>T (p.Arg1034Met)
c.2969G>T (p.Arg990Met)
c.3086G>T (p.Arg1029Met)
n.975G>T
c.689G>T (p.Arg230Met)
c.3098G>T (p.Arg1033Met)
c.3074G>T (p.Arg1025Met)
c.3041G>T (p.Arg1014Met)
c.2984G>T (p.Arg995Met)
c.3083G>T (p.Arg1028Met)
c.3059G>T (p.Arg1020Met)
c.2894G>T (p.Arg965Met)
c.3056G>T (p.Arg1019Met)
1g.16986939C>GCA338233972ATP13A2c.3101G>C (p.Arg1034Thr)
c.2969G>C (p.Arg990Thr)
c.3086G>C (p.Arg1029Thr)
n.975G>C
c.689G>C (p.Arg230Thr)
c.3098G>C (p.Arg1033Thr)
c.3074G>C (p.Arg1025Thr)
c.3041G>C (p.Arg1014Thr)
c.2984G>C (p.Arg995Thr)
c.3083G>C (p.Arg1028Thr)
c.3059G>C (p.Arg1020Thr)
c.2894G>C (p.Arg965Thr)
c.3056G>C (p.Arg1019Thr)
1g.16986939C>TCA338233974ATP13A2c.3101G>A (p.Arg1034Lys)
c.2969G>A (p.Arg990Lys)
c.3086G>A (p.Arg1029Lys)
n.975G>A
c.689G>A (p.Arg230Lys)
c.3098G>A (p.Arg1033Lys)
c.3074G>A (p.Arg1025Lys)
c.3041G>A (p.Arg1014Lys)
c.2984G>A (p.Arg995Lys)
c.3083G>A (p.Arg1028Lys)
c.3059G>A (p.Arg1020Lys)
c.2894G>A (p.Arg965Lys)
c.3056G>A (p.Arg1019Lys)
1g.16986940T>ACA338233978ATP13A2c.3100A>T (p.Arg1034Trp)
c.2968A>T (p.Arg990Trp)
c.3085A>T (p.Arg1029Trp)
n.974A>T
c.688A>T (p.Arg230Trp)
c.3097A>T (p.Arg1033Trp)
c.3073A>T (p.Arg1025Trp)
c.3040A>T (p.Arg1014Trp)
c.2983A>T (p.Arg995Trp)
c.3082A>T (p.Arg1028Trp)
c.3058A>T (p.Arg1020Trp)
c.2893A>T (p.Arg965Trp)
c.3055A>T (p.Arg1019Trp)
 dbSNP gnomAD v4
1g.16986940T>CCA338233981ATP13A2c.3100A>G (p.Arg1034Gly)
c.2968A>G (p.Arg990Gly)
c.3085A>G (p.Arg1029Gly)
n.974A>G
c.688A>G (p.Arg230Gly)
c.3097A>G (p.Arg1033Gly)
c.3073A>G (p.Arg1025Gly)
c.3040A>G (p.Arg1014Gly)
c.2983A>G (p.Arg995Gly)
c.3082A>G (p.Arg1028Gly)
c.3058A>G (p.Arg1020Gly)
c.2893A>G (p.Arg965Gly)
c.3055A>G (p.Arg1019Gly)
 dbSNP
1g.16986940T>GCA416093804ATP13A2c.3100A>C (p.Arg1034=)
c.2968A>C (p.Arg990=)
c.3085A>C (p.Arg1029=)
n.974A>C
c.688A>C (p.Arg230=)
c.3097A>C (p.Arg1033=)
c.3073A>C (p.Arg1025=)
c.3040A>C (p.Arg1014=)
c.2983A>C (p.Arg995=)
c.3082A>C (p.Arg1028=)
c.3058A>C (p.Arg1020=)
c.2893A>C (p.Arg965=)
c.3055A>C (p.Arg1019=)
1g.16986940T=CA1156050632ATP13A2c.3100A= (p.Arg1034=)
c.2968A= (p.Arg990=)
c.3085A= (p.Arg1029=)
n.974A=
c.688A= (p.Arg230=)
c.3097A= (p.Arg1033=)
c.3073A= (p.Arg1025=)
c.3040A= (p.Arg1014=)
c.2983A= (p.Arg995=)
c.3082A= (p.Arg1028=)
c.3058A= (p.Arg1020=)
c.2893A= (p.Arg965=)
c.3055A= (p.Arg1019=)
1g.16986941G>ACA416093805ATP13A2c.3099C>T (p.Asn1033=)
c.2967C>T (p.Asn989=)
c.3084C>T (p.Asn1028=)
n.973C>T
c.687C>T (p.Asn229=)
c.3096C>T (p.Asn1032=)
c.3072C>T (p.Asn1024=)
c.3039C>T (p.Asn1013=)
c.2982C>T (p.Asn994=)
c.3081C>T (p.Asn1027=)
c.3057C>T (p.Asn1019=)
c.2892C>T (p.Asn964=)
c.3054C>T (p.Asn1018=)
 dbSNP
1g.16986941G>CCA338233991ATP13A2c.3099C>G (p.Asn1033Lys)
c.2967C>G (p.Asn989Lys)
c.3084C>G (p.Asn1028Lys)
n.973C>G
c.687C>G (p.Asn229Lys)
c.3096C>G (p.Asn1032Lys)
c.3072C>G (p.Asn1024Lys)
c.3039C>G (p.Asn1013Lys)
c.2982C>G (p.Asn994Lys)
c.3081C>G (p.Asn1027Lys)
c.3057C>G (p.Asn1019Lys)
c.2892C>G (p.Asn964Lys)
c.3054C>G (p.Asn1018Lys)
1g.16986941G=CA1156050637ATP13A2c.3099C= (p.Asn1033=)
c.2967C= (p.Asn989=)
c.3084C= (p.Asn1028=)
n.973C=
c.687C= (p.Asn229=)
c.3096C= (p.Asn1032=)
c.3072C= (p.Asn1024=)
c.3039C= (p.Asn1013=)
c.2982C= (p.Asn994=)
c.3081C= (p.Asn1027=)
c.3057C= (p.Asn1019=)
c.2892C= (p.Asn964=)
c.3054C= (p.Asn1018=)
1g.16986941G>TCA338233995ATP13A2c.3099C>A (p.Asn1033Lys)
c.2967C>A (p.Asn989Lys)
c.3084C>A (p.Asn1028Lys)
n.973C>A
c.687C>A (p.Asn229Lys)
c.3096C>A (p.Asn1032Lys)
c.3072C>A (p.Asn1024Lys)
c.3039C>A (p.Asn1013Lys)
c.2982C>A (p.Asn994Lys)
c.3081C>A (p.Asn1027Lys)
c.3057C>A (p.Asn1019Lys)
c.2892C>A (p.Asn964Lys)
c.3054C>A (p.Asn1018Lys)
1g.16986942T>ACA338233997ATP13A2c.3098A>T (p.Asn1033Ile)
c.2966A>T (p.Asn989Ile)
c.3083A>T (p.Asn1028Ile)
n.972A>T
c.686A>T (p.Asn229Ile)
c.3095A>T (p.Asn1032Ile)
c.3071A>T (p.Asn1024Ile)
c.3038A>T (p.Asn1013Ile)
c.2981A>T (p.Asn994Ile)
c.3080A>T (p.Asn1027Ile)
c.3056A>T (p.Asn1019Ile)
c.2891A>T (p.Asn964Ile)
c.3053A>T (p.Asn1018Ile)
1g.16986942T>CCA338234003ATP13A2c.3098A>G (p.Asn1033Ser)
c.2966A>G (p.Asn989Ser)
c.3083A>G (p.Asn1028Ser)
n.972A>G
c.686A>G (p.Asn229Ser)
c.3095A>G (p.Asn1032Ser)
c.3071A>G (p.Asn1024Ser)
c.3038A>G (p.Asn1013Ser)
c.2981A>G (p.Asn994Ser)
c.3080A>G (p.Asn1027Ser)
c.3056A>G (p.Asn1019Ser)
c.2891A>G (p.Asn964Ser)
c.3053A>G (p.Asn1018Ser)
1g.16986942T>GCA338234006ATP13A2c.3098A>C (p.Asn1033Thr)
c.2966A>C (p.Asn989Thr)
c.3083A>C (p.Asn1028Thr)
n.972A>C
c.686A>C (p.Asn229Thr)
c.3095A>C (p.Asn1032Thr)
c.3071A>C (p.Asn1024Thr)
c.3038A>C (p.Asn1013Thr)
c.2981A>C (p.Asn994Thr)
c.3080A>C (p.Asn1027Thr)
c.3056A>C (p.Asn1019Thr)
c.2891A>C (p.Asn964Thr)
c.3053A>C (p.Asn1018Thr)
1g.16986943T>ACA338234030ATP13A2c.3097A>T (p.Asn1033Tyr)
c.2965A>T (p.Asn989Tyr)
c.3082A>T (p.Asn1028Tyr)
n.971A>T
c.685A>T (p.Asn229Tyr)
c.3094A>T (p.Asn1032Tyr)
c.3070A>T (p.Asn1024Tyr)
c.3037A>T (p.Asn1013Tyr)
c.2980A>T (p.Asn994Tyr)
c.3079A>T (p.Asn1027Tyr)
c.3055A>T (p.Asn1019Tyr)
c.2890A>T (p.Asn964Tyr)
c.3052A>T (p.Asn1018Tyr)
1g.16986943T>CCA338234033ATP13A2c.3097A>G (p.Asn1033Asp)
c.2965A>G (p.Asn989Asp)
c.3082A>G (p.Asn1028Asp)
n.971A>G
c.685A>G (p.Asn229Asp)
c.3094A>G (p.Asn1032Asp)
c.3070A>G (p.Asn1024Asp)
c.3037A>G (p.Asn1013Asp)
c.2980A>G (p.Asn994Asp)
c.3079A>G (p.Asn1027Asp)
c.3055A>G (p.Asn1019Asp)
c.2890A>G (p.Asn964Asp)
c.3052A>G (p.Asn1018Asp)
1g.16986943T>GCA338234036ATP13A2c.3097A>C (p.Asn1033His)
c.2965A>C (p.Asn989His)
c.3082A>C (p.Asn1028His)
n.971A>C
c.685A>C (p.Asn229His)
c.3094A>C (p.Asn1032His)
c.3070A>C (p.Asn1024His)
c.3037A>C (p.Asn1013His)
c.2980A>C (p.Asn994His)
c.3079A>C (p.Asn1027His)
c.3055A>C (p.Asn1019His)
c.2890A>C (p.Asn964His)
c.3052A>C (p.Asn1018His)
1g.16986944C>ACA416093809ATP13A2c.3096G>T (p.Leu1032=)
c.2964G>T (p.Leu988=)
c.3081G>T (p.Leu1027=)
n.970G>T
c.684G>T (p.Leu228=)
c.3093G>T (p.Leu1031=)
c.3069G>T (p.Leu1023=)
c.3036G>T (p.Leu1012=)
c.2979G>T (p.Leu993=)
c.3078G>T (p.Leu1026=)
c.3054G>T (p.Leu1018=)
c.2889G>T (p.Leu963=)
c.3051G>T (p.Leu1017=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.16986944C=CA1156050645ATP13A2c.3096G= (p.Leu1032=)
c.2964G= (p.Leu988=)
c.3081G= (p.Leu1027=)
n.970G=
c.684G= (p.Leu228=)
c.3093G= (p.Leu1031=)
c.3069G= (p.Leu1023=)
c.3036G= (p.Leu1012=)
c.2979G= (p.Leu993=)
c.3078G= (p.Leu1026=)
c.3054G= (p.Leu1018=)
c.2889G= (p.Leu963=)
c.3051G= (p.Leu1017=)
1g.16986944C>GCA416093813ATP13A2c.3096G>C (p.Leu1032=)
c.2964G>C (p.Leu988=)
c.3081G>C (p.Leu1027=)
n.970G>C
c.684G>C (p.Leu228=)
c.3093G>C (p.Leu1031=)
c.3069G>C (p.Leu1023=)
c.3036G>C (p.Leu1012=)
c.2979G>C (p.Leu993=)
c.3078G>C (p.Leu1026=)
c.3054G>C (p.Leu1018=)
c.2889G>C (p.Leu963=)
c.3051G>C (p.Leu1017=)
 dbSNP gnomAD v2 gnomAD v4
1g.16986944C>TCA636598ATP13A2c.3096G>A (p.Leu1032=)
c.2964G>A (p.Leu988=)
c.3081G>A (p.Leu1027=)
n.970G>A
c.684G>A (p.Leu228=)
c.3093G>A (p.Leu1031=)
c.3069G>A (p.Leu1023=)
c.3036G>A (p.Leu1012=)
c.2979G>A (p.Leu993=)
c.3078G>A (p.Leu1026=)
c.3054G>A (p.Leu1018=)
c.2889G>A (p.Leu963=)
c.3051G>A (p.Leu1017=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.16986945A>CCA338234042ATP13A2c.3095T>G (p.Leu1032Arg)
c.2963T>G (p.Leu988Arg)
c.3080T>G (p.Leu1027Arg)
n.969T>G
c.683T>G (p.Leu228Arg)
c.3092T>G (p.Leu1031Arg)
c.3068T>G (p.Leu1023Arg)
c.3035T>G (p.Leu1012Arg)
c.2978T>G (p.Leu993Arg)
c.3077T>G (p.Leu1026Arg)
c.3053T>G (p.Leu1018Arg)
c.2888T>G (p.Leu963Arg)
c.3050T>G (p.Leu1017Arg)
1g.16986945A>GCA338234056ATP13A2c.3095T>C (p.Leu1032Pro)
c.2963T>C (p.Leu988Pro)
c.3080T>C (p.Leu1027Pro)
n.969T>C
c.683T>C (p.Leu228Pro)
c.3092T>C (p.Leu1031Pro)
c.3068T>C (p.Leu1023Pro)
c.3035T>C (p.Leu1012Pro)
c.2978T>C (p.Leu993Pro)
c.3077T>C (p.Leu1026Pro)
c.3053T>C (p.Leu1018Pro)
c.2888T>C (p.Leu963Pro)
c.3050T>C (p.Leu1017Pro)
1g.16986945A>TCA338234061ATP13A2c.3095T>A (p.Leu1032Gln)
c.2963T>A (p.Leu988Gln)
c.3080T>A (p.Leu1027Gln)
n.969T>A
c.683T>A (p.Leu228Gln)
c.3092T>A (p.Leu1031Gln)
c.3068T>A (p.Leu1023Gln)
c.3035T>A (p.Leu1012Gln)
c.2978T>A (p.Leu993Gln)
c.3077T>A (p.Leu1026Gln)
c.3053T>A (p.Leu1018Gln)
c.2888T>A (p.Leu963Gln)
c.3050T>A (p.Leu1017Gln)
1g.16986946G>ACA416093816ATP13A2c.3094C>T (p.Leu1032=)
c.2962C>T (p.Leu988=)
c.3079C>T (p.Leu1027=)
n.968C>T
c.682C>T (p.Leu228=)
c.3091C>T (p.Leu1031=)
c.3067C>T (p.Leu1023=)
c.3034C>T (p.Leu1012=)
c.2977C>T (p.Leu993=)
c.3076C>T (p.Leu1026=)
c.3052C>T (p.Leu1018=)
c.2887C>T (p.Leu963=)
c.3049C>T (p.Leu1017=)
 gnomAD v4
1g.16986946G>CCA338234063ATP13A2c.3094C>G (p.Leu1032Val)
c.2962C>G (p.Leu988Val)
c.3079C>G (p.Leu1027Val)
n.968C>G
c.682C>G (p.Leu228Val)
c.3091C>G (p.Leu1031Val)
c.3067C>G (p.Leu1023Val)
c.3034C>G (p.Leu1012Val)
c.2977C>G (p.Leu993Val)
c.3076C>G (p.Leu1026Val)
c.3052C>G (p.Leu1018Val)
c.2887C>G (p.Leu963Val)
c.3049C>G (p.Leu1017Val)
1g.16986946G>TCA338234067ATP13A2c.3094C>A (p.Leu1032Met)
c.2962C>A (p.Leu988Met)
c.3079C>A (p.Leu1027Met)
n.968C>A
c.682C>A (p.Leu228Met)
c.3091C>A (p.Leu1031Met)
c.3067C>A (p.Leu1023Met)
c.3034C>A (p.Leu1012Met)
c.2977C>A (p.Leu993Met)
c.3076C>A (p.Leu1026Met)
c.3052C>A (p.Leu1018Met)
c.2887C>A (p.Leu963Met)
c.3049C>A (p.Leu1017Met)
1g.16986947A>CCA416093818ATP13A2c.3093T>G (p.Pro1031=)
c.2961T>G (p.Pro987=)
c.3078T>G (p.Pro1026=)
n.967T>G
c.681T>G (p.Pro227=)
c.3090T>G (p.Pro1030=)
c.3066T>G (p.Pro1022=)
c.3033T>G (p.Pro1011=)
c.2976T>G (p.Pro992=)
c.3075T>G (p.Pro1025=)
c.3051T>G (p.Pro1017=)
c.2886T>G (p.Pro962=)
c.3048T>G (p.Pro1016=)
1g.16986947A>GCA416093819ATP13A2c.3093T>C (p.Pro1031=)
c.2961T>C (p.Pro987=)
c.3078T>C (p.Pro1026=)
n.967T>C
c.681T>C (p.Pro227=)
c.3090T>C (p.Pro1030=)
c.3066T>C (p.Pro1022=)
c.3033T>C (p.Pro1011=)
c.2976T>C (p.Pro992=)
c.3075T>C (p.Pro1025=)
c.3051T>C (p.Pro1017=)
c.2886T>C (p.Pro962=)
c.3048T>C (p.Pro1016=)
1g.16986947A>TCA416093817ATP13A2c.3093T>A (p.Pro1031=)
c.2961T>A (p.Pro987=)
c.3078T>A (p.Pro1026=)
n.967T>A
c.681T>A (p.Pro227=)
c.3090T>A (p.Pro1030=)
c.3066T>A (p.Pro1022=)
c.3033T>A (p.Pro1011=)
c.2976T>A (p.Pro992=)
c.3075T>A (p.Pro1025=)
c.3051T>A (p.Pro1017=)
c.2886T>A (p.Pro962=)
c.3048T>A (p.Pro1016=)
1g.16986948G>ACA338234071ATP13A2c.3092C>T (p.Pro1031Leu)
c.2960C>T (p.Pro987Leu)
c.3077C>T (p.Pro1026Leu)
n.966C>T
c.680C>T (p.Pro227Leu)
c.3089C>T (p.Pro1030Leu)
c.3065C>T (p.Pro1022Leu)
c.3032C>T (p.Pro1011Leu)
c.2975C>T (p.Pro992Leu)
c.3074C>T (p.Pro1025Leu)
c.3050C>T (p.Pro1017Leu)
c.2885C>T (p.Pro962Leu)
c.3047C>T (p.Pro1016Leu)
1g.16986948G>CCA338234081ATP13A2c.3092C>G (p.Pro1031Arg)
c.2960C>G (p.Pro987Arg)
c.3077C>G (p.Pro1026Arg)
n.966C>G
c.680C>G (p.Pro227Arg)
c.3089C>G (p.Pro1030Arg)
c.3065C>G (p.Pro1022Arg)
c.3032C>G (p.Pro1011Arg)
c.2975C>G (p.Pro992Arg)
c.3074C>G (p.Pro1025Arg)
c.3050C>G (p.Pro1017Arg)
c.2885C>G (p.Pro962Arg)
c.3047C>G (p.Pro1016Arg)
1g.16986948G>TCA338234083ATP13A2c.3092C>A (p.Pro1031His)
c.2960C>A (p.Pro987His)
c.3077C>A (p.Pro1026His)
n.966C>A
c.680C>A (p.Pro227His)
c.3089C>A (p.Pro1030His)
c.3065C>A (p.Pro1022His)
c.3032C>A (p.Pro1011His)
c.2975C>A (p.Pro992His)
c.3074C>A (p.Pro1025His)
c.3050C>A (p.Pro1017His)
c.2885C>A (p.Pro962His)
c.3047C>A (p.Pro1016His)
1g.16986949G>ACA338234088ATP13A2c.3091C>T (p.Pro1031Ser)
c.2959C>T (p.Pro987Ser)
c.3076C>T (p.Pro1026Ser)
n.965C>T
c.679C>T (p.Pro227Ser)
c.3088C>T (p.Pro1030Ser)
c.3064C>T (p.Pro1022Ser)
c.3031C>T (p.Pro1011Ser)
c.2974C>T (p.Pro992Ser)
c.3073C>T (p.Pro1025Ser)
c.3049C>T (p.Pro1017Ser)
c.2884C>T (p.Pro962Ser)
c.3046C>T (p.Pro1016Ser)
1g.16986949G>CCA338234089ATP13A2c.3091C>G (p.Pro1031Ala)
c.2959C>G (p.Pro987Ala)
c.3076C>G (p.Pro1026Ala)
n.965C>G
c.679C>G (p.Pro227Ala)
c.3088C>G (p.Pro1030Ala)
c.3064C>G (p.Pro1022Ala)
c.3031C>G (p.Pro1011Ala)
c.2974C>G (p.Pro992Ala)
c.3073C>G (p.Pro1025Ala)
c.3049C>G (p.Pro1017Ala)
c.2884C>G (p.Pro962Ala)
c.3046C>G (p.Pro1016Ala)
1g.16986949G>TCA338234091ATP13A2c.3091C>A (p.Pro1031Thr)
c.2959C>A (p.Pro987Thr)
c.3076C>A (p.Pro1026Thr)
n.965C>A
c.679C>A (p.Pro227Thr)
c.3088C>A (p.Pro1030Thr)
c.3064C>A (p.Pro1022Thr)
c.3031C>A (p.Pro1011Thr)
c.2974C>A (p.Pro992Thr)
c.3073C>A (p.Pro1025Thr)
c.3049C>A (p.Pro1017Thr)
c.2884C>A (p.Pro962Thr)
c.3046C>A (p.Pro1016Thr)
1g.16986950C>ACA416093825ATP13A2c.3090G>T (p.Val1030=)
c.2958G>T (p.Val986=)
c.3075G>T (p.Val1025=)
n.964G>T
c.678G>T (p.Val226=)
c.3087G>T (p.Val1029=)
c.3063G>T (p.Val1021=)
c.3030G>T (p.Val1010=)
c.2973G>T (p.Val991=)
c.3072G>T (p.Val1024=)
c.3048G>T (p.Val1016=)
c.2883G>T (p.Val961=)
c.3045G>T (p.Val1015=)
1g.16986950C>GCA416093826ATP13A2c.3090G>C (p.Val1030=)
c.2958G>C (p.Val986=)
c.3075G>C (p.Val1025=)
n.964G>C
c.678G>C (p.Val226=)
c.3087G>C (p.Val1029=)
c.3063G>C (p.Val1021=)
c.3030G>C (p.Val1010=)
c.2973G>C (p.Val991=)
c.3072G>C (p.Val1024=)
c.3048G>C (p.Val1016=)
c.2883G>C (p.Val961=)
c.3045G>C (p.Val1015=)
1g.16986950C>TCA416093827ATP13A2c.3090G>A (p.Val1030=)
c.2958G>A (p.Val986=)
c.3075G>A (p.Val1025=)
n.964G>A
c.678G>A (p.Val226=)
c.3087G>A (p.Val1029=)
c.3063G>A (p.Val1021=)
c.3030G>A (p.Val1010=)
c.2973G>A (p.Val991=)
c.3072G>A (p.Val1024=)
c.3048G>A (p.Val1016=)
c.2883G>A (p.Val961=)
c.3045G>A (p.Val1015=)
1g.16986951A>CCA338234095ATP13A2c.3089T>G (p.Val1030Gly)
c.2957T>G (p.Val986Gly)
c.3074T>G (p.Val1025Gly)
n.963T>G
c.677T>G (p.Val226Gly)
c.3086T>G (p.Val1029Gly)
c.3062T>G (p.Val1021Gly)
c.3029T>G (p.Val1010Gly)
c.2972T>G (p.Val991Gly)
c.3071T>G (p.Val1024Gly)
c.3047T>G (p.Val1016Gly)
c.2882T>G (p.Val961Gly)
c.3044T>G (p.Val1015Gly)
1g.16986951A>GCA338234096ATP13A2c.3089T>C (p.Val1030Ala)
c.2957T>C (p.Val986Ala)
c.3074T>C (p.Val1025Ala)
n.963T>C
c.677T>C (p.Val226Ala)
c.3086T>C (p.Val1029Ala)
c.3062T>C (p.Val1021Ala)
c.3029T>C (p.Val1010Ala)
c.2972T>C (p.Val991Ala)
c.3071T>C (p.Val1024Ala)
c.3047T>C (p.Val1016Ala)
c.2882T>C (p.Val961Ala)
c.3044T>C (p.Val1015Ala)
1g.16986951A>TCA338234097ATP13A2c.3089T>A (p.Val1030Glu)
c.2957T>A (p.Val986Glu)
c.3074T>A (p.Val1025Glu)
n.963T>A
c.677T>A (p.Val226Glu)
c.3086T>A (p.Val1029Glu)
c.3062T>A (p.Val1021Glu)
c.3029T>A (p.Val1010Glu)
c.2972T>A (p.Val991Glu)
c.3071T>A (p.Val1024Glu)
c.3047T>A (p.Val1016Glu)
c.2882T>A (p.Val961Glu)
c.3044T>A (p.Val1015Glu)
1g.16986952C>ACA338234098ATP13A2c.3088G>T (p.Val1030Leu)
c.2956G>T (p.Val986Leu)
c.3073G>T (p.Val1025Leu)
n.962G>T
c.676G>T (p.Val226Leu)
c.3085G>T (p.Val1029Leu)
c.3061G>T (p.Val1021Leu)
c.3028G>T (p.Val1010Leu)
c.2971G>T (p.Val991Leu)
c.3070G>T (p.Val1024Leu)
c.3046G>T (p.Val1016Leu)
c.2881G>T (p.Val961Leu)
c.3043G>T (p.Val1015Leu)
 gnomAD v4
1g.16986952C=CA1156050648ATP13A2c.3088G= (p.Val1030=)
c.2956G= (p.Val986=)
c.3073G= (p.Val1025=)
n.962G=
c.676G= (p.Val226=)
c.3085G= (p.Val1029=)
c.3061G= (p.Val1021=)
c.3028G= (p.Val1010=)
c.2971G= (p.Val991=)
c.3070G= (p.Val1024=)
c.3046G= (p.Val1016=)
c.2881G= (p.Val961=)
c.3043G= (p.Val1015=)
1g.16986952C>GCA338234105ATP13A2c.3088G>C (p.Val1030Leu)
c.2956G>C (p.Val986Leu)
c.3073G>C (p.Val1025Leu)
n.962G>C
c.676G>C (p.Val226Leu)
c.3085G>C (p.Val1029Leu)
c.3061G>C (p.Val1021Leu)
c.3028G>C (p.Val1010Leu)
c.2971G>C (p.Val991Leu)
c.3070G>C (p.Val1024Leu)
c.3046G>C (p.Val1016Leu)
c.2881G>C (p.Val961Leu)
c.3043G>C (p.Val1015Leu)
1g.16986952C>TCA338234099ATP13A2c.3088G>A (p.Val1030Met)
c.2956G>A (p.Val986Met)
c.3073G>A (p.Val1025Met)
n.962G>A
c.676G>A (p.Val226Met)
c.3085G>A (p.Val1029Met)
c.3061G>A (p.Val1021Met)
c.3028G>A (p.Val1010Met)
c.2971G>A (p.Val991Met)
c.3070G>A (p.Val1024Met)
c.3046G>A (p.Val1016Met)
c.2881G>A (p.Val961Met)
c.3043G>A (p.Val1015Met)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.16986953G>ACA636599ATP13A2c.3087C>T (p.Phe1029=)
c.2955C>T (p.Phe985=)
c.3072C>T (p.Phe1024=)
n.961C>T
c.675C>T (p.Phe225=)
c.3084C>T (p.Phe1028=)
c.3060C>T (p.Phe1020=)
c.3027C>T (p.Phe1009=)
c.2970C>T (p.Phe990=)
c.3069C>T (p.Phe1023=)
c.3045C>T (p.Phe1015=)
c.2880C>T (p.Phe960=)
c.3042C>T (p.Phe1014=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.16986953G>CCA338234113ATP13A2c.3087C>G (p.Phe1029Leu)
c.2955C>G (p.Phe985Leu)
c.3072C>G (p.Phe1024Leu)
n.961C>G
c.675C>G (p.Phe225Leu)
c.3084C>G (p.Phe1028Leu)
c.3060C>G (p.Phe1020Leu)
c.3027C>G (p.Phe1009Leu)
c.2970C>G (p.Phe990Leu)
c.3069C>G (p.Phe1023Leu)
c.3045C>G (p.Phe1015Leu)
c.2880C>G (p.Phe960Leu)
c.3042C>G (p.Phe1014Leu)
 gnomAD v4
1g.16986953G=CA1142731353ATP13A2c.3087C= (p.Phe1029=)
c.2955C= (p.Phe985=)
c.3072C= (p.Phe1024=)
n.961C=
c.675C= (p.Phe225=)
c.3084C= (p.Phe1028=)
c.3060C= (p.Phe1020=)
c.3027C= (p.Phe1009=)
c.2970C= (p.Phe990=)
c.3069C= (p.Phe1023=)
c.3045C= (p.Phe1015=)
c.2880C= (p.Phe960=)
c.3042C= (p.Phe1014=)
1g.16986953G>TCA338234116ATP13A2c.3087C>A (p.Phe1029Leu)
c.2955C>A (p.Phe985Leu)
c.3072C>A (p.Phe1024Leu)
n.961C>A
c.675C>A (p.Phe225Leu)
c.3084C>A (p.Phe1028Leu)
c.3060C>A (p.Phe1020Leu)
c.3027C>A (p.Phe1009Leu)
c.2970C>A (p.Phe990Leu)
c.3069C>A (p.Phe1023Leu)
c.3045C>A (p.Phe1015Leu)
c.2880C>A (p.Phe960Leu)
c.3042C>A (p.Phe1014Leu)
1g.16986953_16986954delinsGACA1156050658ATP13A2c.3086_3087delinsTC (p.Phe1029=)
c.2954_2955delinsTC (p.Phe985=)
c.3071_3072delinsTC (p.Phe1024=)
n.960_961delinsTC
c.674_675delinsTC (p.Phe225=)
c.3083_3084delinsTC (p.Phe1028=)
c.3059_3060delinsTC (p.Phe1020=)
c.3026_3027delinsTC (p.Phe1009=)
c.2969_2970delinsTC (p.Phe990=)
c.3068_3069delinsTC (p.Phe1023=)
c.3044_3045delinsTC (p.Phe1015=)
c.2879_2880delinsTC (p.Phe960=)
c.3041_3042delinsTC (p.Phe1014=)
1g.16986954A>CCA338234123ATP13A2c.3086T>G (p.Phe1029Cys)
c.2954T>G (p.Phe985Cys)
c.3071T>G (p.Phe1024Cys)
n.960T>G
c.674T>G (p.Phe225Cys)
c.3083T>G (p.Phe1028Cys)
c.3059T>G (p.Phe1020Cys)
c.3026T>G (p.Phe1009Cys)
c.2969T>G (p.Phe990Cys)
c.3068T>G (p.Phe1023Cys)
c.3044T>G (p.Phe1015Cys)
c.2879T>G (p.Phe960Cys)
c.3041T>G (p.Phe1014Cys)
 gnomAD v4
1g.16986954A>GCA338234125ATP13A2c.3086T>C (p.Phe1029Ser)
c.2954T>C (p.Phe985Ser)
c.3071T>C (p.Phe1024Ser)
n.960T>C
c.674T>C (p.Phe225Ser)
c.3083T>C (p.Phe1028Ser)
c.3059T>C (p.Phe1020Ser)
c.3026T>C (p.Phe1009Ser)
c.2969T>C (p.Phe990Ser)
c.3068T>C (p.Phe1023Ser)
c.3044T>C (p.Phe1015Ser)
c.2879T>C (p.Phe960Ser)
c.3041T>C (p.Phe1014Ser)
1g.16986954A>TCA338234128ATP13A2c.3086T>A (p.Phe1029Tyr)
c.2954T>A (p.Phe985Tyr)
c.3071T>A (p.Phe1024Tyr)
n.960T>A
c.674T>A (p.Phe225Tyr)
c.3083T>A (p.Phe1028Tyr)
c.3059T>A (p.Phe1020Tyr)
c.3026T>A (p.Phe1009Tyr)
c.2969T>A (p.Phe990Tyr)
c.3068T>A (p.Phe1023Tyr)
c.3044T>A (p.Phe1015Tyr)
c.2879T>A (p.Phe960Tyr)
c.3041T>A (p.Phe1014Tyr)
1g.16986955delCA521449633ATP13A2c.3086del (p.Phe1029SerfsTer4)
c.2954del (p.Phe985SerfsTer4)
c.3071del (p.Phe1024SerfsTer4)
n.960del
c.674del (p.Phe225SerfsTer4)
c.3083del (p.Phe1028SerfsTer4)
c.3059del (p.Phe1020SerfsTer4)
c.3026del (p.Phe1009SerfsTer4)
c.2969del (p.Phe990SerfsTer4)
c.3068del (p.Phe1023SerfsTer4)
c.3044del (p.Phe1015SerfsTer4)
c.2879del (p.Phe960SerfsTer4)
c.3041del (p.Phe1014SerfsTer4)
 dbSNP gnomAD v2 gnomAD v4
1g.16986955A=CA1156050663ATP13A2c.3085T= (p.Phe1029=)
c.2953T= (p.Phe985=)
c.3070T= (p.Phe1024=)
n.959T=
c.673T= (p.Phe225=)
c.3082T= (p.Phe1028=)
c.3058T= (p.Phe1020=)
c.3025T= (p.Phe1009=)
c.2968T= (p.Phe990=)
c.3067T= (p.Phe1023=)
c.3043T= (p.Phe1015=)
c.2878T= (p.Phe960=)
c.3040T= (p.Phe1014=)
1g.16986955A>CCA338234131ATP13A2c.3085T>G (p.Phe1029Val)
c.2953T>G (p.Phe985Val)
c.3070T>G (p.Phe1024Val)
n.959T>G
c.673T>G (p.Phe225Val)
c.3082T>G (p.Phe1028Val)
c.3058T>G (p.Phe1020Val)
c.3025T>G (p.Phe1009Val)
c.2968T>G (p.Phe990Val)
c.3067T>G (p.Phe1023Val)
c.3043T>G (p.Phe1015Val)
c.2878T>G (p.Phe960Val)
c.3040T>G (p.Phe1014Val)
1g.16986955A>GCA338234132ATP13A2c.3085T>C (p.Phe1029Leu)
c.2953T>C (p.Phe985Leu)
c.3070T>C (p.Phe1024Leu)
n.959T>C
c.673T>C (p.Phe225Leu)
c.3082T>C (p.Phe1028Leu)
c.3058T>C (p.Phe1020Leu)
c.3025T>C (p.Phe1009Leu)
c.2968T>C (p.Phe990Leu)
c.3067T>C (p.Phe1023Leu)
c.3043T>C (p.Phe1015Leu)
c.2878T>C (p.Phe960Leu)
c.3040T>C (p.Phe1014Leu)
 dbSNP
1g.16986955A>TCA338234134ATP13A2c.3085T>A (p.Phe1029Ile)
c.2953T>A (p.Phe985Ile)
c.3070T>A (p.Phe1024Ile)
n.959T>A
c.673T>A (p.Phe225Ile)
c.3082T>A (p.Phe1028Ile)
c.3058T>A (p.Phe1020Ile)
c.3025T>A (p.Phe1009Ile)
c.2968T>A (p.Phe990Ile)
c.3067T>A (p.Phe1023Ile)
c.3043T>A (p.Phe1015Ile)
c.2878T>A (p.Phe960Ile)
c.3040T>A (p.Phe1014Ile)
1g.16986956C>ACA338234136ATP13A2c.3084G>T (p.Trp1028Cys)
c.2952G>T (p.Trp984Cys)
c.3069G>T (p.Trp1023Cys)
n.958G>T
c.672G>T (p.Trp224Cys)
c.3081G>T (p.Trp1027Cys)
c.3057G>T (p.Trp1019Cys)
c.3024G>T (p.Trp1008Cys)
c.2967G>T (p.Trp989Cys)
c.3066G>T (p.Trp1022Cys)
c.3042G>T (p.Trp1014Cys)
c.2877G>T (p.Trp959Cys)
c.3039G>T (p.Trp1013Cys)
1g.16986956C>GCA338234137ATP13A2c.3084G>C (p.Trp1028Cys)
c.2952G>C (p.Trp984Cys)
c.3069G>C (p.Trp1023Cys)
n.958G>C
c.672G>C (p.Trp224Cys)
c.3081G>C (p.Trp1027Cys)
c.3057G>C (p.Trp1019Cys)
c.3024G>C (p.Trp1008Cys)
c.2967G>C (p.Trp989Cys)
c.3066G>C (p.Trp1022Cys)
c.3042G>C (p.Trp1014Cys)
c.2877G>C (p.Trp959Cys)
c.3039G>C (p.Trp1013Cys)
 gnomAD v4
1g.16986956C>TCA338234139ATP13A2c.3084G>A (p.Trp1028Ter)
c.2952G>A (p.Trp984Ter)
c.3069G>A (p.Trp1023Ter)
n.958G>A
c.672G>A (p.Trp224Ter)
c.3081G>A (p.Trp1027Ter)
c.3057G>A (p.Trp1019Ter)
c.3024G>A (p.Trp1008Ter)
c.2967G>A (p.Trp989Ter)
c.3066G>A (p.Trp1022Ter)
c.3042G>A (p.Trp1014Ter)
c.2877G>A (p.Trp959Ter)
c.3039G>A (p.Trp1013Ter)
1g.16986957C>ACA338234153ATP13A2c.3084-1G>T (n.3084-1G>T)
c.2952-1G>T (n.2952-1G>T)
c.3069-1G>T (n.3069-1G>T)
n.958-1G>T
c.672-1G>T (n.672-1G>T)
c.3081-1G>T (n.3081-1G>T)
c.3057-1G>T (n.3057-1G>T)
c.3024-1G>T (n.3024-1G>T)
c.2967-1G>T (n.2967-1G>T)
c.3066-1G>T (n.3066-1G>T)
c.3042-1G>T (n.3042-1G>T)
c.2877-1G>T (n.2877-1G>T)
c.3039-1G>T (n.3039-1G>T)
1g.16986957C>GCA338234154ATP13A2c.3084-1G>C (n.3084-1G>C)
c.2952-1G>C (n.2952-1G>C)
c.3069-1G>C (n.3069-1G>C)
n.958-1G>C
c.672-1G>C (n.672-1G>C)
c.3081-1G>C (n.3081-1G>C)
c.3057-1G>C (n.3057-1G>C)
c.3024-1G>C (n.3024-1G>C)
c.2967-1G>C (n.2967-1G>C)
c.3066-1G>C (n.3066-1G>C)
c.3042-1G>C (n.3042-1G>C)
c.2877-1G>C (n.2877-1G>C)
c.3039-1G>C (n.3039-1G>C)
1g.16986957C>TCA338234147ATP13A2c.3084-1G>A (n.3084-1G>A)
c.2952-1G>A (n.2952-1G>A)
c.3069-1G>A (n.3069-1G>A)
n.958-1G>A
c.672-1G>A (n.672-1G>A)
c.3081-1G>A (n.3081-1G>A)
c.3057-1G>A (n.3057-1G>A)
c.3024-1G>A (n.3024-1G>A)
c.2967-1G>A (n.2967-1G>A)
c.3066-1G>A (n.3066-1G>A)
c.3042-1G>A (n.3042-1G>A)
c.2877-1G>A (n.2877-1G>A)
c.3039-1G>A (n.3039-1G>A)
1g.16986958T>ACA338234166ATP13A2c.3084-2A>T (n.3084-2A>T)
c.2952-2A>T (n.2952-2A>T)
c.3069-2A>T (n.3069-2A>T)
n.958-2A>T
c.672-2A>T (n.672-2A>T)
c.3081-2A>T (n.3081-2A>T)
c.3057-2A>T (n.3057-2A>T)
c.3024-2A>T (n.3024-2A>T)
c.2967-2A>T (n.2967-2A>T)
c.3066-2A>T (n.3066-2A>T)
c.3042-2A>T (n.3042-2A>T)
c.2877-2A>T (n.2877-2A>T)
c.3039-2A>T (n.3039-2A>T)
1g.16986958T>CCA338234172ATP13A2c.3084-2A>G (n.3084-2A>G)
c.2952-2A>G (n.2952-2A>G)
c.3069-2A>G (n.3069-2A>G)
n.958-2A>G
c.672-2A>G (n.672-2A>G)
c.3081-2A>G (n.3081-2A>G)
c.3057-2A>G (n.3057-2A>G)
c.3024-2A>G (n.3024-2A>G)
c.2967-2A>G (n.2967-2A>G)
c.3066-2A>G (n.3066-2A>G)
c.3042-2A>G (n.3042-2A>G)
c.2877-2A>G (n.2877-2A>G)
c.3039-2A>G (n.3039-2A>G)
1g.16986958T>GCA338234174ATP13A2c.3084-2A>C (n.3084-2A>C)
c.2952-2A>C (n.2952-2A>C)
c.3069-2A>C (n.3069-2A>C)
n.958-2A>C
c.672-2A>C (n.672-2A>C)
c.3081-2A>C (n.3081-2A>C)
c.3057-2A>C (n.3057-2A>C)
c.3024-2A>C (n.3024-2A>C)
c.2967-2A>C (n.2967-2A>C)
c.3066-2A>C (n.3066-2A>C)
c.3042-2A>C (n.3042-2A>C)
c.2877-2A>C (n.2877-2A>C)
c.3039-2A>C (n.3039-2A>C)
 dbSNP
1g.16986958T=CA1156050667ATP13A2c.3084-2A= (n.3084-2A=)
c.2952-2A= (n.2952-2A=)
c.3069-2A= (n.3069-2A=)
n.958-2A=
c.672-2A= (n.672-2A=)
c.3081-2A= (n.3081-2A=)
c.3057-2A= (n.3057-2A=)
c.3024-2A= (n.3024-2A=)
c.2967-2A= (n.2967-2A=)
c.3066-2A= (n.3066-2A=)
c.3042-2A= (n.3042-2A=)
c.2877-2A= (n.2877-2A=)
c.3039-2A= (n.3039-2A=)

Number of alleles fetched