Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.51768953T>ACA384892058SCN8Ac.2990T>A (p.Leu997His)
c.837T>A
c.1054T>A
c.3023T>A (p.Leu1008His)
12g.51768953T>CCA384892059SCN8Ac.2990T>C (p.Leu997Pro)
c.837T>C
c.1054T>C
c.3023T>C (p.Leu1008Pro)
12g.51768953T>GCA384892060SCN8Ac.2990T>G (p.Leu997Arg)
c.837T>G
c.1054T>G
c.3023T>G (p.Leu1008Arg)
12g.51768954C>ACA479789671SCN8Ac.2991C>A (p.Leu997=)
c.838C>A
c.1055C>A
c.3024C>A (p.Leu1008=)
12g.51768954C=CA2036187823SCN8Ac.2991C= (p.Leu997=)
c.838C=
c.1055C=
c.3024C= (p.Leu1008=)
12g.51768954C>GCA479789672SCN8Ac.2991C>G (p.Leu997=)
c.838C>G
c.1055C>G
c.3024C>G (p.Leu1008=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.51768954C>TCA479789674SCN8Ac.2991C>T (p.Leu997=)
c.838C>T
c.1055C>T
c.3024C>T (p.Leu1008=)
 ClinVar dbSNP
12g.51768955C>ACA384892061SCN8Ac.2992C>A (p.Gln998Lys)
c.839C>A
c.1056C>A
c.3025C>A (p.Gln1009Lys)
12g.51768955C>GCA384892062SCN8Ac.2992C>G (p.Gln998Glu)
c.839C>G
c.1056C>G
c.3025C>G (p.Gln1009Glu)
12g.51768955C>TCA384892063SCN8Ac.2992C>T (p.Gln998Ter)
c.839C>T
c.1056C>T
c.3025C>T (p.Gln1009Ter)
12g.51768956A>CCA384892066SCN8Ac.2993A>C (p.Gln998Pro)
c.840A>C
c.1057A>C
c.3026A>C (p.Gln1009Pro)
12g.51768956A>GCA384892064SCN8Ac.2993A>G (p.Gln998Arg)
c.840A>G
c.1057A>G
c.3026A>G (p.Gln1009Arg)
12g.51768956A>TCA384892065SCN8Ac.2993A>T (p.Gln998Leu)
c.840A>T
c.1057A>T
c.3026A>T (p.Gln1009Leu)
12g.51768957G>ACA479789682SCN8Ac.2994G>A (p.Gln998=)
c.841G>A
c.1058G>A
c.3027G>A (p.Gln1009=)
12g.51768957G>CCA384892067SCN8Ac.2994G>C (p.Gln998His)
c.841G>C
c.1058G>C
c.3027G>C (p.Gln1009His)
12g.51768957G>TCA384892068SCN8Ac.2994G>T (p.Gln998His)
c.841G>T
c.1058G>T
c.3027G>T (p.Gln1009His)
12g.51768958A>CCA384892069SCN8Ac.2995A>C (p.Ile999Leu)
c.842A>C
c.1059A>C
c.3028A>C (p.Ile1010Leu)
12g.51768958A>GCA384892070SCN8Ac.2995A>G (p.Ile999Val)
c.842A>G
c.1059A>G
c.3028A>G (p.Ile1010Val)
 gnomAD v4
12g.51768958A>TCA384892071SCN8Ac.2995A>T (p.Ile999Phe)
c.842A>T
c.1059A>T
c.3028A>T (p.Ile1010Phe)
 COSMIC COSMIC
12g.51768959T>ACA384892072SCN8Ac.2996T>A (p.Ile999Asn)
c.843T>A
c.1060T>A
c.3029T>A (p.Ile1010Asn)
12g.51768959T>CCA384892073SCN8Ac.2996T>C (p.Ile999Thr)
c.843T>C
c.1060T>C
c.3029T>C (p.Ile1010Thr)
12g.51768959T>GCA384892074SCN8Ac.2996T>G (p.Ile999Ser)
c.843T>G
c.1060T>G
c.3029T>G (p.Ile1010Ser)
12g.51768960C>ACA479789691SCN8Ac.2997C>A (p.Ile999=)
c.844C>A
c.1061C>A
c.3030C>A (p.Ile1010=)
12g.51768960C>GCA384892075SCN8Ac.2997C>G (p.Ile999Met)
c.844C>G
c.1061C>G
c.3030C>G (p.Ile1010Met)
12g.51768960C>TCA479789693SCN8Ac.2997C>T (p.Ile999=)
c.844C>T
c.1061C>T
c.3030C>T (p.Ile1010=)
 gnomAD v4
12g.51768961T>ACA384892076SCN8Ac.2998T>A (p.Ser1000Thr)
c.845T>A
c.1062T>A
c.3031T>A (p.Ser1011Thr)
12g.51768961T>CCA384892077SCN8Ac.2998T>C (p.Ser1000Pro)
c.845T>C
c.1062T>C
c.3031T>C (p.Ser1011Pro)
12g.51768961T>GCA384892078SCN8Ac.2998T>G (p.Ser1000Ala)
c.845T>G
c.1062T>G
c.3031T>G (p.Ser1011Ala)
12g.51768962C>ACA384892081SCN8Ac.2999C>A (p.Ser1000Ter)
c.846C>A
c.1063C>A
c.3032C>A (p.Ser1011Ter)
 COSMIC COSMIC
12g.51768962C>GCA384892079SCN8Ac.2999C>G (p.Ser1000Ter)
c.846C>G
c.1063C>G
c.3032C>G (p.Ser1011Ter)
12g.51768962C>TCA384892080SCN8Ac.2999C>T (p.Ser1000Leu)
c.846C>T
c.1063C>T
c.3032C>T (p.Ser1011Leu)
12g.51768963A=CA2036187825SCN8Ac.3000A= (p.Ser1000=)
c.847A=
c.1064A=
c.3033A= (p.Ser1011=)
12g.51768963A>CCA479789703SCN8Ac.3000A>C (p.Ser1000=)
c.847A>C
c.1064A>C
c.3033A>C (p.Ser1011=)
12g.51768963A>GCA479789704SCN8Ac.3000A>G (p.Ser1000=)
c.847A>G
c.1064A>G
c.3033A>G (p.Ser1011=)
 dbSNP gnomAD v2 gnomAD v4
12g.51768963A>TCA479789706SCN8Ac.3000A>T (p.Ser1000=)
c.847A>T
c.1064A>T
c.3033A>T (p.Ser1011=)
12g.51768964G>ACA384892082SCN8Ac.3001G>A (p.Val1001Met)
c.848G>A
c.1065G>A
c.3034G>A (p.Val1012Met)
12g.51768964G>CCA384892084SCN8Ac.3001G>C (p.Val1001Leu)
c.848G>C
c.1065G>C
c.3034G>C (p.Val1012Leu)
12g.51768964G>TCA384892083SCN8Ac.3001G>T (p.Val1001Leu)
c.848G>T
c.1065G>T
c.3034G>T (p.Val1012Leu)
12g.51768965T>ACA384892085SCN8Ac.3002T>A (p.Val1001Glu)
c.849T>A
c.1066T>A
c.3035T>A (p.Val1012Glu)
12g.51768965T>CCA384892086SCN8Ac.3002T>C (p.Val1001Ala)
c.849T>C
c.1066T>C
c.3035T>C (p.Val1012Ala)
12g.51768965T>GCA384892087SCN8Ac.3002T>G (p.Val1001Gly)
c.849T>G
c.1066T>G
c.3035T>G (p.Val1012Gly)
12g.51768966G>ACA479789720SCN8Ac.3003G>A (p.Val1001=)
c.850G>A
c.1067G>A
c.3036G>A (p.Val1012=)
12g.51768966G>CCA479789716SCN8Ac.3003G>C (p.Val1001=)
c.850G>C
c.1067G>C
c.3036G>C (p.Val1012=)
12g.51768966G>TCA479789718SCN8Ac.3003G>T (p.Val1001=)
c.850G>T
c.1067G>T
c.3036G>T (p.Val1012=)
12g.51768967A>CCA384892088SCN8Ac.3004A>C (p.Ile1002Leu)
c.851A>C
c.1068A>C
c.3037A>C (p.Ile1013Leu)
12g.51768967A>GCA384892089SCN8Ac.3004A>G (p.Ile1002Val)
c.851A>G
c.1068A>G
c.3037A>G (p.Ile1013Val)
12g.51768967A>TCA384892090SCN8Ac.3004A>T (p.Ile1002Phe)
c.851A>T
c.1068A>T
c.3037A>T (p.Ile1013Phe)
12g.51768968T>ACA384892091SCN8Ac.3005T>A (p.Ile1002Asn)
c.852T>A
c.1069T>A
c.3038T>A (p.Ile1013Asn)
12g.51768968T>CCA384892092SCN8Ac.3005T>C (p.Ile1002Thr)
c.852T>C
c.1069T>C
c.3038T>C (p.Ile1013Thr)
12g.51768968T>GCA384892093SCN8Ac.3005T>G (p.Ile1002Ser)
c.852T>G
c.1069T>G
c.3038T>G (p.Ile1013Ser)
12g.51768968T=CA2036187827SCN8Ac.3005T= (p.Ile1002=)
c.852T=
c.1069T=
c.3038T= (p.Ile1013=)
12g.51768969C>ACA479789727SCN8Ac.3006C>A (p.Ile1002=)
c.853C>A
c.1070C>A
c.3039C>A (p.Ile1013=)
12g.51768969C>GCA384892094SCN8Ac.3006C>G (p.Ile1002Met)
c.853C>G
c.1070C>G
c.3039C>G (p.Ile1013Met)
12g.51768969C>TCA479789730SCN8Ac.3006C>T (p.Ile1002=)
c.853C>T
c.1070C>T
c.3039C>T (p.Ile1013=)
12g.51768969_51768970insGCCA605238587SCN8Ac.3006_3007insGC (p.Arg1003AlafsTer12)
c.853_854insGC
c.1070_1071insGC
c.3039_3040insGC (p.Arg1014AlafsTer12)
 dbSNP gnomAD v2
12g.51768970C>ACA384892095SCN8Ac.3007C>A (p.Arg1003Ser)
c.854C>A
c.1071C>A
c.3040C>A (p.Arg1014Ser)
12g.51768970C=CA2036187836SCN8Ac.3007C= (p.Arg1003=)
c.854C=
c.1071C=
c.3040C= (p.Arg1014=)
12g.51768970C>GCA384892096SCN8Ac.3007C>G (p.Arg1003Gly)
c.854C>G
c.1071C>G
c.3040C>G (p.Arg1014Gly)
12g.51768970C>TCA384892097SCN8Ac.3007C>T (p.Arg1003Cys)
c.854C>T
c.1071C>T
c.3040C>T (p.Arg1014Cys)
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC
12g.51768971G>ACA6571535SCN8Ac.3008G>A (p.Arg1003His)
c.855G>A
c.1072G>A
c.3041G>A (p.Arg1014His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
12g.51768971G>CCA384892099SCN8Ac.3008G>C (p.Arg1003Pro)
c.855G>C
c.1072G>C
c.3041G>C (p.Arg1014Pro)
12g.51768971G=CA2036187843SCN8Ac.3008G= (p.Arg1003=)
c.855G=
c.1072G=
c.3041G= (p.Arg1014=)
12g.51768971G>TCA384892098SCN8Ac.3008G>T (p.Arg1003Leu)
c.855G>T
c.1072G>T
c.3041G>T (p.Arg1014Leu)
12g.51768972T>ACA479789738SCN8Ac.3009T>A (p.Arg1003=)
c.856T>A
c.1073T>A
c.3042T>A (p.Arg1014=)
n.1T>A
12g.51768972T>CCA479789740SCN8Ac.3009T>C (p.Arg1003=)
c.856T>C
c.1073T>C
c.3042T>C (p.Arg1014=)
n.1T>C
12g.51768972T>GCA479789741SCN8Ac.3009T>G (p.Arg1003=)
c.856T>G
c.1073T>G
c.3042T>G (p.Arg1014=)
n.1T>G
12g.51768973A>CCA384892100SCN8Ac.3010A>C (p.Ile1004Leu)
c.857A>C
c.1074A>C
c.3043A>C (p.Ile1015Leu)
n.2A>C
12g.51768973A>GCA384892101SCN8Ac.3010A>G (p.Ile1004Val)
c.857A>G
c.1074A>G
c.3043A>G (p.Ile1015Val)
n.2A>G
12g.51768973A>TCA384892102SCN8Ac.3010A>T (p.Ile1004Phe)
c.857A>T
c.1074A>T
c.3043A>T (p.Ile1015Phe)
n.2A>T
12g.51768974T>ACA384892103SCN8Ac.3011T>A (p.Ile1004Asn)
c.858T>A
c.1075T>A
c.3044T>A (p.Ile1015Asn)
n.3T>A
12g.51768974T>CCA384892104SCN8Ac.3011T>C (p.Ile1004Thr)
c.858T>C
c.1075T>C
c.3044T>C (p.Ile1015Thr)
n.3T>C
12g.51768974T>GCA384892105SCN8Ac.3011T>G (p.Ile1004Ser)
c.858T>G
c.1075T>G
c.3044T>G (p.Ile1015Ser)
n.3T>G
12g.51768975C>ACA479789749SCN8Ac.3012C>A (p.Ile1004=)
c.859C>A
c.1076C>A
c.3045C>A (p.Ile1015=)
n.4C>A
12g.51768975C>GCA384892106SCN8Ac.3012C>G (p.Ile1004Met)
c.859C>G
c.1076C>G
c.3045C>G (p.Ile1015Met)
n.4C>G
12g.51768975C>TCA479789752SCN8Ac.3012C>T (p.Ile1004=)
c.859C>T
c.1076C>T
c.3045C>T (p.Ile1015=)
n.4C>T
12g.51768976A=CA2036187846SCN8Ac.3013A= (p.Lys1005=)
c.860A=
c.1077A=
c.3046A= (p.Lys1016=)
n.5A=
12g.51768976A>CCA384892107SCN8Ac.3013A>C (p.Lys1005Gln)
c.860A>C
c.1077A>C
c.3046A>C (p.Lys1016Gln)
n.5A>C
 gnomAD v4
12g.51768976A>GCA384892108SCN8Ac.3013A>G (p.Lys1005Glu)
c.860A>G
c.1077A>G
c.3046A>G (p.Lys1016Glu)
n.5A>G
12g.51768976A>TCA384892109SCN8Ac.3013A>T (p.Lys1005Ter)
c.860A>T
c.1077A>T
c.3046A>T (p.Lys1016Ter)
n.5A>T
 dbSNP
12g.51768977A>CCA384892112SCN8Ac.3014A>C (p.Lys1005Thr)
c.861A>C
c.1078A>C
c.3047A>C (p.Lys1016Thr)
n.6A>C
 gnomAD v4
12g.51768977A>GCA384892111SCN8Ac.3014A>G (p.Lys1005Arg)
c.861A>G
c.1078A>G
c.3047A>G (p.Lys1016Arg)
n.6A>G
12g.51768977A>TCA384892110SCN8Ac.3014A>T (p.Lys1005Met)
c.861A>T
c.1078A>T
c.3047A>T (p.Lys1016Met)
n.6A>T
12g.51768978G>ACA479789757SCN8Ac.3015G>A (p.Lys1005=)
c.862G>A
c.1079G>A
c.3048G>A (p.Lys1016=)
n.7G>A
12g.51768978G>CCA384892114SCN8Ac.3015G>C (p.Lys1005Asn)
c.862G>C
c.1079G>C
c.3048G>C (p.Lys1016Asn)
n.7G>C
12g.51768978G>TCA384892113SCN8Ac.3015G>T (p.Lys1005Asn)
c.862G>T
c.1079G>T
c.3048G>T (p.Lys1016Asn)
n.7G>T
12g.51768979A=CA2036187848SCN8Ac.3016A= (p.Lys1006=)
c.863A=
c.1080A=
c.3049A= (p.Lys1017=)
n.8A=
12g.51768979A>CCA384892115SCN8Ac.3016A>C (p.Lys1006Gln)
c.863A>C
c.1080A>C
c.3049A>C (p.Lys1017Gln)
n.8A>C
12g.51768979A>GCA384892116SCN8Ac.3016A>G (p.Lys1006Glu)
c.863A>G
c.1080A>G
c.3049A>G (p.Lys1017Glu)
n.8A>G
 gnomAD v4
12g.51768979A>TCA384892117SCN8Ac.3016A>T (p.Lys1006Ter)
c.863A>T
c.1080A>T
c.3049A>T (p.Lys1017Ter)
n.8A>T
 dbSNP
12g.51768980A=CA2036187851SCN8Ac.3017A= (p.Lys1006=)
c.864A=
c.1081A=
c.3050A= (p.Lys1017=)
n.9A=
12g.51768980A>CCA384892118SCN8Ac.3017A>C (p.Lys1006Thr)
c.864A>C
c.1081A>C
c.3050A>C (p.Lys1017Thr)
n.9A>C
12g.51768980A>GCA236318501SCN8Ac.3017A>G (p.Lys1006Arg)
c.864A>G
c.1081A>G
c.3050A>G (p.Lys1017Arg)
n.9A>G
 dbSNP
12g.51768980A>TCA384892119SCN8Ac.3017A>T (p.Lys1006Met)
c.864A>T
c.1081A>T
c.3050A>T (p.Lys1017Met)
n.9A>T
12g.51768981G>ACA479789770SCN8Ac.3018G>A (p.Lys1006=)
c.865G>A
c.1082G>A
c.3051G>A (p.Lys1017=)
n.10G>A
12g.51768981G>CCA236318505SCN8Ac.3018G>C (p.Lys1006Asn)
c.865G>C
c.1082G>C
c.3051G>C (p.Lys1017Asn)
n.10G>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.51768981G=CA2036187854SCN8Ac.3018G= (p.Lys1006=)
c.865G=
c.1082G=
c.3051G= (p.Lys1017=)
n.10G=
12g.51768981G>TCA384892120SCN8Ac.3018G>T (p.Lys1006Asn)
c.865G>T
c.1082G>T
c.3051G>T (p.Lys1017Asn)
n.10G>T
12g.51768982G>ACA384892121SCN8Ac.3019G>A (p.Gly1007Ser)
c.866G>A
c.1083G>A
c.3052G>A (p.Gly1018Ser)
n.11G>A
 gnomAD v4
12g.51768982G>CCA384892122SCN8Ac.3019G>C (p.Gly1007Arg)
c.866G>C
c.1083G>C
c.3052G>C (p.Gly1018Arg)
n.11G>C
12g.51768982G=CA2036187856SCN8Ac.3019G= (p.Gly1007=)
c.866G=
c.1083G=
c.3052G= (p.Gly1018=)
n.11G=
12g.51768982G>TCA384892123SCN8Ac.3019G>T (p.Gly1007Cys)
c.866G>T
c.1083G>T
c.3052G>T (p.Gly1018Cys)
n.11G>T
 dbSNP
12g.51768983G>ACA236318515SCN8Ac.3020G>A (p.Gly1007Asp)
c.867G>A
c.1084G>A
c.3053G>A (p.Gly1018Asp)
n.12G>A
 dbSNP gnomAD v2
12g.51768983G>CCA384892125SCN8Ac.3020G>C (p.Gly1007Ala)
c.867G>C
c.1084G>C
c.3053G>C (p.Gly1018Ala)
n.12G>C
12g.51768983G=CA2036187861SCN8Ac.3020G= (p.Gly1007=)
c.867G=
c.1084G=
c.3053G= (p.Gly1018=)
n.12G=
12g.51768983G>TCA384892124SCN8Ac.3020G>T (p.Gly1007Val)
c.867G>T
c.1084G>T
c.3053G>T (p.Gly1018Val)
n.12G>T
 dbSNP gnomAD v2 gnomAD v4
12g.51768984T>ACA479789783SCN8Ac.3021T>A (p.Gly1007=)
c.868T>A
c.1085T>A
c.3054T>A (p.Gly1018=)
n.13T>A
12g.51768984T>CCA479789785SCN8Ac.3021T>C (p.Gly1007=)
c.868T>C
c.1085T>C
c.3054T>C (p.Gly1018=)
n.13T>C
 dbSNP gnomAD v2 gnomAD v4
12g.51768984T>GCA479789787SCN8Ac.3021T>G (p.Gly1007=)
c.868T>G
c.1085T>G
c.3054T>G (p.Gly1018=)
n.13T>G
12g.51768984T=CA2036187865SCN8Ac.3021T= (p.Gly1007=)
c.868T=
c.1085T=
c.3054T= (p.Gly1018=)
n.13T=
12g.51768985G>ACA384892126SCN8Ac.3022G>A (p.Val1008Met)
c.869G>A
c.1086G>A
c.3055G>A (p.Val1019Met)
n.14G>A
 dbSNP
12g.51768985G>CCA384892127SCN8Ac.3022G>C (p.Val1008Leu)
c.869G>C
c.1086G>C
c.3055G>C (p.Val1019Leu)
n.14G>C
12g.51768985G=CA2036187870SCN8Ac.3022G= (p.Val1008=)
c.869G=
c.1086G=
c.3055G= (p.Val1019=)
n.14G=
12g.51768985G>TCA384892128SCN8Ac.3022G>T (p.Val1008Leu)
c.869G>T
c.1086G>T
c.3055G>T (p.Val1019Leu)
n.14G>T
12g.51768986T>ACA384892129SCN8Ac.3023T>A (p.Val1008Glu)
c.870T>A
c.1087T>A
c.3056T>A (p.Val1019Glu)
n.15T>A
12g.51768986T>CCA384892130SCN8Ac.3023T>C (p.Val1008Ala)
c.870T>C
c.1087T>C
c.3056T>C (p.Val1019Ala)
n.15T>C
12g.51768986T>GCA384892131SCN8Ac.3023T>G (p.Val1008Gly)
c.870T>G
c.1087T>G
c.3056T>G (p.Val1019Gly)
n.15T>G
 ClinVar gnomAD v4
12g.51768987G>ACA16606570SCN8Ac.3024G>A (p.Val1008=)
c.871G>A
c.1088G>A
c.3057G>A (p.Val1019=)
n.16G>A
 ClinVar dbSNP
12g.51768987G>CCA479789794SCN8Ac.3024G>C (p.Val1008=)
c.871G>C
c.1088G>C
c.3057G>C (p.Val1019=)
n.16G>C
12g.51768987G=CA2036187874SCN8Ac.3024G= (p.Val1008=)
c.871G=
c.1088G=
c.3057G= (p.Val1019=)
n.16G=
12g.51768987G>TCA479789796SCN8Ac.3024G>T (p.Val1008=)
c.871G>T
c.1088G>T
c.3057G>T (p.Val1019=)
n.16G>T
12g.51768988G>ACA384892132SCN8Ac.3025G>A (p.Ala1009Thr)
c.872G>A
c.1089G>A
c.3058G>A (p.Ala1020Thr)
n.17G>A
12g.51768988G>CCA384892133SCN8Ac.3025G>C (p.Ala1009Pro)
c.872G>C
c.1089G>C
c.3058G>C (p.Ala1020Pro)
n.17G>C
12g.51768988G>TCA384892134SCN8Ac.3025G>T (p.Ala1009Ser)
c.872G>T
c.1089G>T
c.3058G>T (p.Ala1020Ser)
n.17G>T
12g.51768989C>ACA384892135SCN8Ac.3026C>A (p.Ala1009Asp)
c.873C>A
c.1090C>A
c.3059C>A (p.Ala1020Asp)
n.18C>A
12g.51768989C>GCA384892136SCN8Ac.3026C>G (p.Ala1009Gly)
c.873C>G
c.1090C>G
c.3059C>G (p.Ala1020Gly)
n.18C>G
12g.51768989C>TCA384892137SCN8Ac.3026C>T (p.Ala1009Val)
c.873C>T
c.1090C>T
c.3059C>T (p.Ala1020Val)
n.18C>T
12g.51768990C>ACA6571536SCN8Ac.3027C>A (p.Ala1009=)
c.874C>A
c.1091C>A
c.3060C>A (p.Ala1020=)
n.19C>A
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
12g.51768990C=CA2036187877SCN8Ac.3027C= (p.Ala1009=)
c.874C=
c.1091C=
c.3060C= (p.Ala1020=)
n.19C=
12g.51768990C>GCA479789807SCN8Ac.3027C>G (p.Ala1009=)
c.874C>G
c.1091C>G
c.3060C>G (p.Ala1020=)
n.19C>G
 gnomAD v4
12g.51768990C>TCA479789809SCN8Ac.3027C>T (p.Ala1009=)
c.874C>T
c.1091C>T
c.3060C>T (p.Ala1020=)
n.19C>T
12g.51768991T>ACA384892140SCN8Ac.3028T>A (p.Trp1010Arg)
c.875T>A
c.1092T>A
c.3061T>A (p.Trp1021Arg)
n.20T>A
12g.51768991T>CCA384892139SCN8Ac.3028T>C (p.Trp1010Arg)
c.875T>C
c.1092T>C
c.3061T>C (p.Trp1021Arg)
n.20T>C
12g.51768991T>GCA384892138SCN8Ac.3028T>G (p.Trp1010Gly)
c.875T>G
c.1092T>G
c.3061T>G (p.Trp1021Gly)
n.20T>G
12g.51768992G>ACA384892141SCN8Ac.3029G>A (p.Trp1010Ter)
c.876G>A
c.1093G>A
c.3062G>A (p.Trp1021Ter)
n.21G>A
12g.51768992G>CCA384892143SCN8Ac.3029G>C (p.Trp1010Ser)
c.876G>C
c.1093G>C
c.3062G>C (p.Trp1021Ser)
n.21G>C
12g.51768992G>TCA384892142SCN8Ac.3029G>T (p.Trp1010Leu)
c.876G>T
c.1093G>T
c.3062G>T (p.Trp1021Leu)
n.21G>T
12g.51768993G>ACA384892144SCN8Ac.3030G>A (p.Trp1010Ter)
c.877G>A
c.1094G>A
c.3063G>A (p.Trp1021Ter)
n.22G>A
 dbSNP
12g.51768993G>CCA384892145SCN8Ac.3030G>C (p.Trp1010Cys)
c.877G>C
c.1094G>C
c.3063G>C (p.Trp1021Cys)
n.22G>C
12g.51768993G=CA2036187880SCN8Ac.3030G= (p.Trp1010=)
c.877G=
c.1094G=
c.3063G= (p.Trp1021=)
n.22G=
12g.51768993G>TCA384892146SCN8Ac.3030G>T (p.Trp1010Cys)
c.877G>T
c.1094G>T
c.3063G>T (p.Trp1021Cys)
n.22G>T
 COSMIC COSMIC
12g.51768994A=CA2036187883SCN8Ac.3031A= (p.Thr1011=)
c.878A=
c.1095A=
c.3064A= (p.Thr1022=)
n.23A=
12g.51768994A>CCA384892147SCN8Ac.3031A>C (p.Thr1011Pro)
c.878A>C
c.1095A>C
c.3064A>C (p.Thr1022Pro)
n.23A>C
12g.51768994A>GCA384892148SCN8Ac.3031A>G (p.Thr1011Ala)
c.878A>G
c.1095A>G
c.3064A>G (p.Thr1022Ala)
n.23A>G
 dbSNP gnomAD v2 gnomAD v4
12g.51768994A>TCA384892149SCN8Ac.3031A>T (p.Thr1011Ser)
c.878A>T
c.1095A>T
c.3064A>T (p.Thr1022Ser)
n.23A>T
12g.51768995C>ACA384892150SCN8Ac.3032C>A (p.Thr1011Asn)
c.879C>A
c.1096C>A
c.3065C>A (p.Thr1022Asn)
n.24C>A
12g.51768995C>GCA384892151SCN8Ac.3032C>G (p.Thr1011Ser)
c.879C>G
c.1096C>G
c.3065C>G (p.Thr1022Ser)
n.24C>G
12g.51768995C>TCA384892152SCN8Ac.3032C>T (p.Thr1011Ile)
c.879C>T
c.1096C>T
c.3065C>T (p.Thr1022Ile)
n.24C>T
 gnomAD v4
12g.51768996C>ACA479789822SCN8Ac.3033C>A (p.Thr1011=)
c.880C>A
c.1097C>A
c.3066C>A (p.Thr1022=)
n.25C>A
12g.51768996C=CA2036187889SCN8Ac.3033C= (p.Thr1011=)
c.880C=
c.1097C=
c.3066C= (p.Thr1022=)
n.25C=
12g.51768996C>GCA479789823SCN8Ac.3033C>G (p.Thr1011=)
c.880C>G
c.1097C>G
c.3066C>G (p.Thr1022=)
n.25C>G
12g.51768996C>TCA479789826SCN8Ac.3033C>T (p.Thr1011=)
c.880C>T
c.1097C>T
c.3066C>T (p.Thr1022=)
n.25C>T
 dbSNP
12g.51768997A=CA2036187897SCN8Ac.3034A= (p.Lys1012=)
c.881A=
c.1098A=
c.3067A= (p.Lys1023=)
n.26A=
12g.51768997A>CCA384892153SCN8Ac.3034A>C (p.Lys1012Gln)
c.881A>C
c.1098A>C
c.3067A>C (p.Lys1023Gln)
n.26A>C
12g.51768997A>GCA384892154SCN8Ac.3034A>G (p.Lys1012Glu)
c.881A>G
c.1098A>G
c.3067A>G (p.Lys1023Glu)
n.26A>G
12g.51768997A>TCA384892155SCN8Ac.3034A>T (p.Lys1012Ter)
c.881A>T
c.1098A>T
c.3067A>T (p.Lys1023Ter)
n.26A>T
 dbSNP
12g.51768998A>CCA384892157SCN8Ac.3035A>C (p.Lys1012Thr)
c.882A>C
c.1099A>C
c.3068A>C (p.Lys1023Thr)
n.27A>C
 ClinVar
12g.51768998A>GCA384892158SCN8Ac.3035A>G (p.Lys1012Arg)
c.882A>G
c.1099A>G
c.3068A>G (p.Lys1023Arg)
n.27A>G
12g.51768998A>TCA384892156SCN8Ac.3035A>T (p.Lys1012Ile)
c.882A>T
c.1099A>T
c.3068A>T (p.Lys1023Ile)
n.27A>T
12g.51768999A>CCA384892159SCN8Ac.3036A>C (p.Lys1012Asn)
c.883A>C
c.1100A>C
c.3069A>C (p.Lys1023Asn)
n.28A>C
12g.51768999A>GCA479789835SCN8Ac.3036A>G (p.Lys1012=)
c.883A>G
c.1100A>G
c.3069A>G (p.Lys1023=)
n.28A>G
12g.51768999A>TCA384892160SCN8Ac.3036A>T (p.Lys1012Asn)
c.883A>T
c.1100A>T
c.3069A>T (p.Lys1023Asn)
n.28A>T
12g.51769000C>ACA384892161SCN8Ac.3037C>A (p.Leu1013Ile)
c.884C>A
c.1101C>A
c.3070C>A (p.Leu1024Ile)
n.29C>A
12g.51769000C=CA2036187900SCN8Ac.3037C= (p.Leu1013=)
c.884C=
c.1101C=
c.3070C= (p.Leu1024=)
n.29C=
12g.51769000C>GCA384892162SCN8Ac.3037C>G (p.Leu1013Val)
c.884C>G
c.1101C>G
c.3070C>G (p.Leu1024Val)
n.29C>G
12g.51769000C>TCA236318519SCN8Ac.3037C>T (p.Leu1013=)
c.884C>T
c.1101C>T
c.3070C>T (p.Leu1024=)
n.29C>T
 dbSNP gnomAD v2 gnomAD v4
12g.51769001T>ACA384892165SCN8Ac.3038T>A (p.Leu1013Gln)
c.885T>A
c.1102T>A
c.3071T>A (p.Leu1024Gln)
n.30T>A
12g.51769001T>CCA384892163SCN8Ac.3038T>C (p.Leu1013Pro)
c.885T>C
c.1102T>C
c.3071T>C (p.Leu1024Pro)
n.30T>C
12g.51769001T>GCA384892164SCN8Ac.3038T>G (p.Leu1013Arg)
c.885T>G
c.1102T>G
c.3071T>G (p.Leu1024Arg)
n.30T>G
12g.51769002A>CCA479789845SCN8Ac.3039A>C (p.Leu1013=)
c.886A>C
c.1103A>C
c.3072A>C (p.Leu1024=)
n.31A>C
12g.51769002A>GCA479789846SCN8Ac.3039A>G (p.Leu1013=)
c.886A>G
c.1103A>G
c.3072A>G (p.Leu1024=)
n.31A>G
12g.51769002A>TCA479789848SCN8Ac.3039A>T (p.Leu1013=)
c.886A>T
c.1103A>T
c.3072A>T (p.Leu1024=)
n.31A>T
12g.51769003A=CA2036187905SCN8Ac.3040A= (p.Lys1014=)
c.887A=
c.1104A=
c.3073A= (p.Lys1025=)
n.32A=
12g.51769003A>CCA384892166SCN8Ac.3040A>C (p.Lys1014Gln)
c.887A>C
c.1104A>C
c.3073A>C (p.Lys1025Gln)
n.32A>C
12g.51769003A>GCA236318521SCN8Ac.3040A>G (p.Lys1014Glu)
c.887A>G
c.1104A>G
c.3073A>G (p.Lys1025Glu)
n.32A>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
12g.51769003A>TCA384892167SCN8Ac.3040A>T (p.Lys1014Ter)
c.887A>T
c.1104A>T
c.3073A>T (p.Lys1025Ter)
n.32A>T
 dbSNP
12g.51769004A>CCA384892168SCN8Ac.3041A>C (p.Lys1014Thr)
c.888A>C
c.1105A>C
c.3074A>C (p.Lys1025Thr)
n.33A>C
12g.51769004A>GCA384892169SCN8Ac.3041A>G (p.Lys1014Arg)
c.888A>G
c.1105A>G
c.3074A>G (p.Lys1025Arg)
n.33A>G
12g.51769004A>TCA384892170SCN8Ac.3041A>T (p.Lys1014Met)
c.888A>T
c.1105A>T
c.3074A>T (p.Lys1025Met)
n.33A>T
12g.51769005G>ACA479789856SCN8Ac.3042G>A (p.Lys1014=)
c.889G>A
c.1106G>A
c.3075G>A (p.Lys1025=)
n.34G>A
12g.51769005G>CCA384892171SCN8Ac.3042G>C (p.Lys1014Asn)
c.889G>C
c.1106G>C
c.3075G>C (p.Lys1025Asn)
n.34G>C
12g.51769005G=CA2036187915SCN8Ac.3042G= (p.Lys1014=)
c.889G=
c.1106G=
c.3075G= (p.Lys1025=)
n.34G=
12g.51769005G>TCA384892172SCN8Ac.3042G>T (p.Lys1014Asn)
c.889G>T
c.1106G>T
c.3075G>T (p.Lys1025Asn)
n.34G>T
 dbSNP gnomAD v2 gnomAD v4
12g.51769006G>ACA384892173SCN8Ac.3043G>A (p.Val1015Met)
c.890G>A
c.1107G>A
c.3076G>A (p.Val1026Met)
n.35G>A
 dbSNP gnomAD v3 gnomAD v4
12g.51769006G>CCA384892174SCN8Ac.3043G>C (p.Val1015Leu)
c.890G>C
c.1107G>C
c.3076G>C (p.Val1026Leu)
n.35G>C
12g.51769006G=CA2036187920SCN8Ac.3043G= (p.Val1015=)
c.890G=
c.1107G=
c.3076G= (p.Val1026=)
n.35G=
12g.51769006G>TCA384892175SCN8Ac.3043G>T (p.Val1015Leu)
c.890G>T
c.1107G>T
c.3076G>T (p.Val1026Leu)
n.35G>T
12g.51769007T>ACA384892176SCN8Ac.3044T>A (p.Val1015Glu)
c.891T>A
c.1108T>A
c.3077T>A (p.Val1026Glu)
n.36T>A
12g.51769007T>CCA384892177SCN8Ac.3044T>C (p.Val1015Ala)
c.891T>C
c.1108T>C
c.3077T>C (p.Val1026Ala)
n.36T>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.51769007T>GCA384892178SCN8Ac.3044T>G (p.Val1015Gly)
c.891T>G
c.1108T>G
c.3077T>G (p.Val1026Gly)
n.36T>G
12g.51769007T=CA2036187927SCN8Ac.3044T= (p.Val1015=)
c.891T=
c.1108T=
c.3077T= (p.Val1026=)
n.36T=
12g.51769008G>ACA479789862SCN8Ac.3045G>A (p.Val1015=)
c.892G>A
c.1109G>A
c.3078G>A (p.Val1026=)
n.37G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
12g.51769008G>CCA479789865SCN8Ac.3045G>C (p.Val1015=)
c.892G>C
c.1109G>C
c.3078G>C (p.Val1026=)
n.37G>C
12g.51769008G=CA2036187936SCN8Ac.3045G= (p.Val1015=)
c.892G=
c.1109G=
c.3078G= (p.Val1026=)
n.37G=
12g.51769008G>TCA479789867SCN8Ac.3045G>T (p.Val1015=)
c.892G>T
c.1109G>T
c.3078G>T (p.Val1026=)
n.37G>T
 gnomAD v4
12g.51769009C>ACA384892181SCN8Ac.3046C>A (p.His1016Asn)
c.893C>A
c.1110C>A
c.3079C>A (p.His1027Asn)
n.38C>A
12g.51769009C>GCA384892180SCN8Ac.3046C>G (p.His1016Asp)
c.893C>G
c.1110C>G
c.3079C>G (p.His1027Asp)
n.38C>G
12g.51769009C>TCA384892179SCN8Ac.3046C>T (p.His1016Tyr)
c.893C>T
c.1110C>T
c.3079C>T (p.His1027Tyr)
n.38C>T
12g.51769010A>CCA384892182SCN8Ac.3047A>C (p.His1016Pro)
c.894A>C
c.1111A>C
c.3080A>C (p.His1027Pro)
n.39A>C
12g.51769010A>GCA384892183SCN8Ac.3047A>G (p.His1016Arg)
c.894A>G
c.1111A>G
c.3080A>G (p.His1027Arg)
n.39A>G
12g.51769010A>TCA384892184SCN8Ac.3047A>T (p.His1016Leu)
c.894A>T
c.1111A>T
c.3080A>T (p.His1027Leu)
n.39A>T
12g.51769011C>ACA384892185SCN8Ac.3048C>A (p.His1016Gln)
c.895C>A
c.1112C>A
c.3081C>A (p.His1027Gln)
n.40C>A
12g.51769011C=CA2036187941SCN8Ac.3048C= (p.His1016=)
c.895C=
c.1112C=
c.3081C= (p.His1027=)
n.40C=
12g.51769011C>GCA384892186SCN8Ac.3048C>G (p.His1016Gln)
c.895C>G
c.1112C>G
c.3081C>G (p.His1027Gln)
n.40C>G
12g.51769011C>TCA6571537SCN8Ac.3048C>T (p.His1016=)
c.895C>T
c.1112C>T
c.3081C>T (p.His1027=)
n.40C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
12g.51769012G>ACA6571538SCN8Ac.3049G>A (p.Ala1017Thr)
c.896G>A
c.1113G>A
c.3082G>A (p.Ala1028Thr)
n.41G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51769012G>CCA384892188SCN8Ac.3049G>C (p.Ala1017Pro)
c.896G>C
c.1113G>C
c.3082G>C (p.Ala1028Pro)
n.41G>C
12g.51769012G=CA2036187947SCN8Ac.3049G= (p.Ala1017=)
c.896G=
c.1113G=
c.3082G= (p.Ala1028=)
n.41G=
12g.51769012G>TCA384892187SCN8Ac.3049G>T (p.Ala1017Ser)
c.896G>T
c.1113G>T
c.3082G>T (p.Ala1028Ser)
n.41G>T
 ClinVar dbSNP
12g.51769013C>ACA384892189SCN8Ac.3050C>A (p.Ala1017Asp)
c.897C>A
c.1114C>A
c.3083C>A (p.Ala1028Asp)
n.42C>A
12g.51769013C=CA2036187958SCN8Ac.3050C= (p.Ala1017=)
c.897C=
c.1114C=
c.3083C= (p.Ala1028=)
n.42C=
12g.51769013C>GCA384892190SCN8Ac.3050C>G (p.Ala1017Gly)
c.897C>G
c.1114C>G
c.3083C>G (p.Ala1028Gly)
n.42C>G
 dbSNP gnomAD v4
12g.51769013C>TCA384892191SCN8Ac.3050C>T (p.Ala1017Val)
c.897C>T
c.1114C>T
c.3083C>T (p.Ala1028Val)
n.42C>T
12g.51769014C>ACA479789883SCN8Ac.3051C>A (p.Ala1017=)
c.898C>A
c.1115C>A
c.3084C>A (p.Ala1028=)
n.43C>A
12g.51769014C>GCA479789882SCN8Ac.3051C>G (p.Ala1017=)
c.898C>G
c.1115C>G
c.3084C>G (p.Ala1028=)
n.43C>G
12g.51769014C>TCA479789881SCN8Ac.3051C>T (p.Ala1017=)
c.898C>T
c.1115C>T
c.3084C>T (p.Ala1028=)
n.43C>T
 gnomAD v4
12g.51769015T>ACA384892192SCN8Ac.3052T>A (p.Phe1018Ile)
c.899T>A
c.1116T>A
c.3085T>A (p.Phe1029Ile)
n.44T>A
12g.51769015T>CCA384892193SCN8Ac.3052T>C (p.Phe1018Leu)
c.899T>C
c.1116T>C
c.3085T>C (p.Phe1029Leu)
n.44T>C
12g.51769015T>GCA384892194SCN8Ac.3052T>G (p.Phe1018Val)
c.899T>G
c.1116T>G
c.3085T>G (p.Phe1029Val)
n.44T>G
12g.51769016T>ACA384892195SCN8Ac.3053T>A (p.Phe1018Tyr)
c.900T>A
c.1117T>A
c.3086T>A (p.Phe1029Tyr)
n.45T>A
12g.51769016T>CCA384892197SCN8Ac.3053T>C (p.Phe1018Ser)
c.900T>C
c.1117T>C
c.3086T>C (p.Phe1029Ser)
n.45T>C
 gnomAD v4
12g.51769016T>GCA384892199SCN8Ac.3053T>G (p.Phe1018Cys)
c.900T>G
c.1117T>G
c.3086T>G (p.Phe1029Cys)
n.45T>G
12g.51769017C>ACA384892201SCN8Ac.3054C>A (p.Phe1018Leu)
c.901C>A
c.1118C>A
c.3087C>A (p.Phe1029Leu)
n.46C>A
12g.51769017C=CA2036187963SCN8Ac.3054C= (p.Phe1018=)
c.901C=
c.1118C=
c.3087C= (p.Phe1029=)
n.46C=
12g.51769017C>GCA384892203SCN8Ac.3054C>G (p.Phe1018Leu)
c.901C>G
c.1118C>G
c.3087C>G (p.Phe1029Leu)
n.46C>G
12g.51769017C>TCA236318525SCN8Ac.3054C>T (p.Phe1018=)
c.901C>T
c.1118C>T
c.3087C>T (p.Phe1029=)
n.46C>T
 ClinVar dbSNP gnomAD v4
12g.51769018A>CCA384892204SCN8Ac.3055A>C (p.Met1019Leu)
c.902A>C
c.1119A>C
c.3088A>C (p.Met1030Leu)
n.47A>C
12g.51769018A>GCA384892206SCN8Ac.3055A>G (p.Met1019Val)
c.902A>G
c.1119A>G
c.3088A>G (p.Met1030Val)
n.47A>G
 gnomAD v4
12g.51769018A>TCA384892205SCN8Ac.3055A>T (p.Met1019Leu)
c.902A>T
c.1119A>T
c.3088A>T (p.Met1030Leu)
n.47A>T
12g.51769019T>ACA384892208SCN8Ac.3056T>A (p.Met1019Lys)
c.903T>A
c.1120T>A
c.3089T>A (p.Met1030Lys)
n.48T>A
12g.51769019T>CCA384892212SCN8Ac.3056T>C (p.Met1019Thr)
c.903T>C
c.1120T>C
c.3089T>C (p.Met1030Thr)
n.48T>C
12g.51769019T>GCA384892210SCN8Ac.3056T>G (p.Met1019Arg)
c.903T>G
c.1120T>G
c.3089T>G (p.Met1030Arg)
n.48T>G
12g.51769020G>ACA384892214SCN8Ac.3057G>A (p.Met1019Ile)
c.904G>A
c.1121G>A
c.3090G>A (p.Met1030Ile)
n.49G>A
12g.51769020G>CCA384892216SCN8Ac.3057G>C (p.Met1019Ile)
c.904G>C
c.1121G>C
c.3090G>C (p.Met1030Ile)
n.49G>C
12g.51769020G>TCA384892217SCN8Ac.3057G>T (p.Met1019Ile)
c.904G>T
c.1121G>T
c.3090G>T (p.Met1030Ile)
n.49G>T
12g.51769021C>ACA384892218SCN8Ac.3058C>A (p.Gln1020Lys)
c.905C>A
c.1122C>A
c.3091C>A (p.Gln1031Lys)
n.50C>A
12g.51769021C>GCA384892219SCN8Ac.3058C>G (p.Gln1020Glu)
c.905C>G
c.1122C>G
c.3091C>G (p.Gln1031Glu)
n.50C>G
12g.51769021C>TCA384892221SCN8Ac.3058C>T (p.Gln1020Ter)
c.905C>T
c.1122C>T
c.3091C>T (p.Gln1031Ter)
n.50C>T
12g.51769022A>CCA384892224SCN8Ac.3059A>C (p.Gln1020Pro)
c.906A>C
c.1123A>C
c.3092A>C (p.Gln1031Pro)
n.51A>C
12g.51769022A>GCA384892226SCN8Ac.3059A>G (p.Gln1020Arg)
c.906A>G
c.1123A>G
c.3092A>G (p.Gln1031Arg)
n.51A>G
12g.51769022A>TCA384892228SCN8Ac.3059A>T (p.Gln1020Leu)
c.906A>T
c.1123A>T
c.3092A>T (p.Gln1031Leu)
n.51A>T
12g.51769023G>ACA234891SCN8Ac.3060G>A (p.Gln1020=)
c.907G>A
c.1124G>A
c.3093G>A (p.Gln1031=)
n.52G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51769023G>CCA10641732SCN8Ac.3060G>C (p.Gln1020His)
c.907G>C
c.1124G>C
c.3093G>C (p.Gln1031His)
n.52G>C
 ClinVar dbSNP gnomAD v2 gnomAD v4
12g.51769023G=CA2036187972SCN8Ac.3060G= (p.Gln1020=)
c.907G=
c.1124G=
c.3093G= (p.Gln1031=)
n.52G=
12g.51769023G>TCA384892233SCN8Ac.3060G>T (p.Gln1020His)
c.907G>T
c.1124G>T
c.3093G>T (p.Gln1031His)
n.52G>T
12g.51769024G>ACA384892240SCN8Ac.3061G>A (p.Ala1021Thr)
c.908G>A
c.1125G>A
c.3094G>A (p.Ala1032Thr)
n.53G>A
12g.51769024G>CCA6571539SCN8Ac.3061G>C (p.Ala1021Pro)
c.908G>C
c.1125G>C
c.3094G>C (p.Ala1032Pro)
n.53G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51769024G=CA2036187980SCN8Ac.3061G= (p.Ala1021=)
c.908G=
c.1125G=
c.3094G= (p.Ala1032=)
n.53G=
12g.51769024G>TCA384892238SCN8Ac.3061G>T (p.Ala1021Ser)
c.908G>T
c.1125G>T
c.3094G>T (p.Ala1032Ser)
n.53G>T
 ClinVar dbSNP
12g.51769025C>ACA384892243SCN8Ac.3062C>A (p.Ala1021Asp)
c.909C>A
c.1126C>A
c.3095C>A (p.Ala1032Asp)
n.54C>A
12g.51769025C>GCA384892245SCN8Ac.3062C>G (p.Ala1021Gly)
c.909C>G
c.1126C>G
c.3095C>G (p.Ala1032Gly)
n.54C>G
12g.51769025C>TCA384892247SCN8Ac.3062C>T (p.Ala1021Val)
c.909C>T
c.1126C>T
c.3095C>T (p.Ala1032Val)
n.54C>T
12g.51769026C>ACA479789927SCN8Ac.3063C>A (p.Ala1021=)
c.910C>A
c.1127C>A
c.3096C>A (p.Ala1032=)
n.55C>A
 dbSNP gnomAD v2 gnomAD v4
12g.51769026C=CA2036187992SCN8Ac.3063C= (p.Ala1021=)
c.910C=
c.1127C=
c.3096C= (p.Ala1032=)
n.55C=
12g.51769026C>GCA479789929SCN8Ac.3063C>G (p.Ala1021=)
c.910C>G
c.1127C>G
c.3096C>G (p.Ala1032=)
n.55C>G
 dbSNP gnomAD v3 gnomAD v4
12g.51769026C>TCA479789931SCN8Ac.3063C>T (p.Ala1021=)
c.910C>T
c.1127C>T
c.3096C>T (p.Ala1032=)
n.55C>T
12g.51769027C>ACA384892249SCN8Ac.3064C>A (p.His1022Asn)
c.911C>A
c.1128C>A
c.3097C>A (p.His1033Asn)
n.56C>A
12g.51769027C>GCA384892251SCN8Ac.3064C>G (p.His1022Asp)
c.911C>G
c.1128C>G
c.3097C>G (p.His1033Asp)
n.56C>G
 COSMIC COSMIC
12g.51769027C>TCA384892254SCN8Ac.3064C>T (p.His1022Tyr)
c.911C>T
c.1128C>T
c.3097C>T (p.His1033Tyr)
n.56C>T
 gnomAD v4 COSMIC COSMIC
12g.51769028A=CA2036187997SCN8Ac.3065A= (p.His1022=)
c.912A=
c.1129A=
c.3098A= (p.His1033=)
n.57A=
12g.51769028A>CCA384892258SCN8Ac.3065A>C (p.His1022Pro)
c.912A>C
c.1129A>C
c.3098A>C (p.His1033Pro)
n.57A>C
12g.51769028A>GCA384892260SCN8Ac.3065A>G (p.His1022Arg)
c.912A>G
c.1129A>G
c.3098A>G (p.His1033Arg)
n.57A>G
 dbSNP gnomAD v2 gnomAD v4
12g.51769028A>TCA384892262SCN8Ac.3065A>T (p.His1022Leu)
c.912A>T
c.1129A>T
c.3098A>T (p.His1033Leu)
n.57A>T
12g.51769029C>ACA384892266SCN8Ac.3066C>A (p.His1022Gln)
c.913C>A
c.1130C>A
c.3099C>A (p.His1033Gln)
n.58C>A
12g.51769029C=CA2036188004SCN8Ac.3066C= (p.His1022=)
c.913C=
c.1130C=
c.3099C= (p.His1033=)
n.58C=
12g.51769029C>GCA6571540SCN8Ac.3066C>G (p.His1022Gln)
c.913C>G
c.1130C>G
c.3099C>G (p.His1033Gln)
n.58C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.51769029C>TCA479789943SCN8Ac.3066C>T (p.His1022=)
c.913C>T
c.1130C>T
c.3099C>T (p.His1033=)
n.58C>T
12g.51769030T>ACA384892276SCN8Ac.3067T>A (p.Phe1023Ile)
c.914T>A
c.1131T>A
c.3100T>A (p.Phe1034Ile)
n.59T>A
12g.51769030T>CCA384892274SCN8Ac.3067T>C (p.Phe1023Leu)
c.914T>C
c.1131T>C
c.3100T>C (p.Phe1034Leu)
n.59T>C
12g.51769030T>GCA384892270SCN8Ac.3067T>G (p.Phe1023Val)
c.914T>G
c.1131T>G
c.3100T>G (p.Phe1034Val)
n.59T>G
 gnomAD v4
12g.51769031T>ACA384892277SCN8Ac.3068T>A (p.Phe1023Tyr)
c.915T>A
c.1132T>A
c.3101T>A (p.Phe1034Tyr)
n.60T>A
12g.51769031T>CCA384892279SCN8Ac.3068T>C (p.Phe1023Ser)
c.915T>C
c.1132T>C
c.3101T>C (p.Phe1034Ser)
n.60T>C
12g.51769031T>GCA384892281SCN8Ac.3068T>G (p.Phe1023Cys)
c.915T>G
c.1132T>G
c.3101T>G (p.Phe1034Cys)
n.60T>G
 ClinVar
12g.51769032T>ACA384892283SCN8Ac.3069T>A (p.Phe1023Leu)
c.916T>A
c.1133T>A
c.3102T>A (p.Phe1034Leu)
n.61T>A
12g.51769032T>CCA479789952SCN8Ac.3069T>C (p.Phe1023=)
c.916T>C
c.1133T>C
c.3102T>C (p.Phe1034=)
n.61T>C
 dbSNP gnomAD v3 gnomAD v4
12g.51769032T>GCA384892285SCN8Ac.3069T>G (p.Phe1023Leu)
c.916T>G
c.1133T>G
c.3102T>G (p.Phe1034Leu)
n.61T>G
 dbSNP
12g.51769032T=CA2036188010SCN8Ac.3069T= (p.Phe1023=)
c.916T=
c.1133T=
c.3102T= (p.Phe1034=)
n.61T=
12g.51769033A=CA2036188020SCN8Ac.3070A= (p.Lys1024=)
c.917A=
c.1134A=
c.3103A= (p.Lys1035=)
n.62A=
12g.51769033A>CCA384892287SCN8Ac.3070A>C (p.Lys1024Gln)
c.917A>C
c.1134A>C
c.3103A>C (p.Lys1035Gln)
n.62A>C
12g.51769033A>GCA384892289SCN8Ac.3070A>G (p.Lys1024Glu)
c.917A>G
c.1134A>G
c.3103A>G (p.Lys1035Glu)
n.62A>G
12g.51769033A>TCA384892292SCN8Ac.3070A>T (p.Lys1024Ter)
c.917A>T
c.1134A>T
c.3103A>T (p.Lys1035Ter)
n.62A>T
 dbSNP
12g.51769034A>CCA384892295SCN8Ac.3071A>C (p.Lys1024Thr)
c.918A>C
c.1135A>C
c.3104A>C (p.Lys1035Thr)
n.63A>C
12g.51769034A>GCA384892297SCN8Ac.3071A>G (p.Lys1024Arg)
c.918A>G
c.1135A>G
c.3104A>G (p.Lys1035Arg)
n.63A>G
12g.51769034A>TCA384892298SCN8Ac.3071A>T (p.Lys1024Met)
c.918A>T
c.1135A>T
c.3104A>T (p.Lys1035Met)
n.63A>T
12g.51769035G>ACA479789963SCN8Ac.3072G>A (p.Lys1024=)
c.919G>A
c.1136G>A
c.3105G>A (p.Lys1035=)
n.64G>A
12g.51769035G>CCA384892301SCN8Ac.3072G>C (p.Lys1024Asn)
c.919G>C
c.1136G>C
c.3105G>C (p.Lys1035Asn)
n.64G>C
12g.51769035G>TCA384892303SCN8Ac.3072G>T (p.Lys1024Asn)
c.919G>T
c.1136G>T
c.3105G>T (p.Lys1035Asn)
n.64G>T
 COSMIC COSMIC
12g.51769036C>ACA384892309SCN8Ac.3073C>A (p.Gln1025Lys)
c.920C>A
c.1137C>A
c.3106C>A (p.Gln1036Lys)
n.65C>A
12g.51769036C>GCA384892305SCN8Ac.3073C>G (p.Gln1025Glu)
c.920C>G
c.1137C>G
c.3106C>G (p.Gln1036Glu)
n.65C>G
12g.51769036C>TCA384892307SCN8Ac.3073C>T (p.Gln1025Ter)
c.920C>T
c.1137C>T
c.3106C>T (p.Gln1036Ter)
n.65C>T
12g.51769037A>CCA384892311SCN8Ac.3074A>C (p.Gln1025Pro)
c.921A>C
c.1138A>C
c.3107A>C (p.Gln1036Pro)
n.66A>C
12g.51769037A>GCA384892312SCN8Ac.3074A>G (p.Gln1025Arg)
c.921A>G
c.1138A>G
c.3107A>G (p.Gln1036Arg)
n.66A>G
12g.51769037A>TCA384892313SCN8Ac.3074A>T (p.Gln1025Leu)
c.921A>T
c.1138A>T
c.3107A>T (p.Gln1036Leu)
n.66A>T
12g.51769038G>ACA479789974SCN8Ac.3075G>A (p.Gln1025=)
c.922G>A
c.1139G>A
c.3108G>A (p.Gln1036=)
n.67G>A
12g.51769038G>CCA384892314SCN8Ac.3075G>C (p.Gln1025His)
c.922G>C
c.1139G>C
c.3108G>C (p.Gln1036His)
n.67G>C
12g.51769038G>TCA384892315SCN8Ac.3075G>T (p.Gln1025His)
c.922G>T
c.1139G>T
c.3108G>T (p.Gln1036His)
n.67G>T
12g.51769039C>ACA384892316SCN8Ac.3076C>A (p.Arg1026Ser)
c.923C>A
c.1140C>A
c.3109C>A (p.Arg1037Ser)
n.68C>A
 gnomAD v4
12g.51769039C=CA2036188030SCN8Ac.3076C= (p.Arg1026=)
c.923C=
c.1140C=
c.3109C= (p.Arg1037=)
n.68C=
12g.51769039C>GCA384892318SCN8Ac.3076C>G (p.Arg1026Gly)
c.923C>G
c.1140C>G
c.3109C>G (p.Arg1037Gly)
n.68C>G
12g.51769039C>TCA289034SCN8Ac.3076C>T (p.Arg1026Cys)
c.923C>T
c.1140C>T
c.3109C>T (p.Arg1037Cys)
n.68C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51769040G>ACA6571541SCN8Ac.3077G>A (p.Arg1026His)
c.924G>A
c.1141G>A
c.3110G>A (p.Arg1037His)
n.69G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51769040G>CCA384892322SCN8Ac.3077G>C (p.Arg1026Pro)
c.924G>C
c.1141G>C
c.3110G>C (p.Arg1037Pro)
n.69G>C
12g.51769040G=CA2036188035SCN8Ac.3077G= (p.Arg1026=)
c.924G=
c.1141G=
c.3110G= (p.Arg1037=)
n.69G=
12g.51769040G>TCA6571542SCN8Ac.3077G>T (p.Arg1026Leu)
c.924G>T
c.1141G>T
c.3110G>T (p.Arg1037Leu)
n.69G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51769041T>ACA479789985SCN8Ac.3078T>A (p.Arg1026=)
c.925T>A
c.1142T>A
c.3111T>A (p.Arg1037=)
n.70T>A
12g.51769041T>CCA479789988SCN8Ac.3078T>C (p.Arg1026=)
c.925T>C
c.1142T>C
c.3111T>C (p.Arg1037=)
n.70T>C
12g.51769041T>GCA479789989SCN8Ac.3078T>G (p.Arg1026=)
c.925T>G
c.1142T>G
c.3111T>G (p.Arg1037=)
n.70T>G
12g.51769042G>ACA384892323SCN8Ac.3079G>A (p.Glu1027Lys)
c.926G>A
c.1143G>A
c.3112G>A (p.Glu1038Lys)
n.71G>A
12g.51769042G>CCA384892327SCN8Ac.3079G>C (p.Glu1027Gln)
c.926G>C
c.1143G>C
c.3112G>C (p.Glu1038Gln)
n.71G>C
12g.51769042G>TCA384892325SCN8Ac.3079G>T (p.Glu1027Ter)
c.926G>T
c.1143G>T
c.3112G>T (p.Glu1038Ter)
n.71G>T
12g.51769043A>CCA384892329SCN8Ac.3080A>C (p.Glu1027Ala)
c.927A>C
c.1144A>C
c.3113A>C (p.Glu1038Ala)
n.72A>C
12g.51769043A>GCA384892332SCN8Ac.3080A>G (p.Glu1027Gly)
c.927A>G
c.1144A>G
c.3113A>G (p.Glu1038Gly)
n.72A>G
12g.51769043A>TCA384892330SCN8Ac.3080A>T (p.Glu1027Val)
c.927A>T
c.1144A>T
c.3113A>T (p.Glu1038Val)
n.72A>T
12g.51769044G>ACA479789998SCN8Ac.3081G>A (p.Glu1027=)
c.928G>A
c.1145G>A
c.3114G>A (p.Glu1038=)
n.73G>A
 dbSNP gnomAD v2 gnomAD v4
12g.51769044G>CCA384892334SCN8Ac.3081G>C (p.Glu1027Asp)
c.928G>C
c.1145G>C
c.3114G>C (p.Glu1038Asp)
n.73G>C
12g.51769044G=CA2036188040SCN8Ac.3081G= (p.Glu1027=)
c.928G=
c.1145G=
c.3114G= (p.Glu1038=)
n.73G=
12g.51769044G>TCA384892338SCN8Ac.3081G>T (p.Glu1027Asp)
c.928G>T
c.1145G>T
c.3114G>T (p.Glu1038Asp)
n.73G>T
 COSMIC COSMIC
12g.51769045G>ACA236318538SCN8Ac.3082G>A (p.Ala1028Thr)
c.929G>A
c.1146G>A
c.3115G>A (p.Ala1039Thr)
n.74G>A
 dbSNP gnomAD v4
12g.51769045G>CCA384892341SCN8Ac.3082G>C (p.Ala1028Pro)
c.929G>C
c.1146G>C
c.3115G>C (p.Ala1039Pro)
n.74G>C
12g.51769045G=CA2036188048SCN8Ac.3082G= (p.Ala1028=)
c.929G=
c.1146G=
c.3115G= (p.Ala1039=)
n.74G=
12g.51769045G>TCA384892339SCN8Ac.3082G>T (p.Ala1028Ser)
c.929G>T
c.1146G>T
c.3115G>T (p.Ala1039Ser)
n.74G>T
 COSMIC COSMIC
12g.51769046C>ACA384892344SCN8Ac.3083C>A (p.Ala1028Asp)
c.930C>A
c.1147C>A
c.3116C>A (p.Ala1039Asp)
n.75C>A
12g.51769046C=CA2036188053SCN8Ac.3083C= (p.Ala1028=)
c.930C=
c.1147C=
c.3116C= (p.Ala1039=)
n.75C=
12g.51769046C>GCA384892346SCN8Ac.3083C>G (p.Ala1028Gly)
c.930C>G
c.1147C>G
c.3116C>G (p.Ala1039Gly)
n.75C>G
 ClinVar dbSNP
12g.51769046C>TCA384892348SCN8Ac.3083C>T (p.Ala1028Val)
c.930C>T
c.1147C>T
c.3116C>T (p.Ala1039Val)
n.75C>T
12g.51769047T>ACA479790008SCN8Ac.3084T>A (p.Ala1028=)
c.931T>A
c.1148T>A
c.3117T>A (p.Ala1039=)
n.76T>A
12g.51769047T>CCA6571543SCN8Ac.3084T>C (p.Ala1028=)
c.931T>C
c.1148T>C
c.3117T>C (p.Ala1039=)
n.76T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51769047T>GCA479790011SCN8Ac.3084T>G (p.Ala1028=)
c.931T>G
c.1148T>G
c.3117T>G (p.Ala1039=)
n.76T>G
12g.51769047T=CA2036188057SCN8Ac.3084T= (p.Ala1028=)
c.931T=
c.1148T=
c.3117T= (p.Ala1039=)
n.76T=
12g.51769048G>ACA384892349SCN8Ac.3085G>A (p.Asp1029Asn)
c.932G>A
c.1149G>A
c.3118G>A (p.Asp1040Asn)
n.77G>A
 COSMIC COSMIC
12g.51769048G>CCA384892351SCN8Ac.3085G>C (p.Asp1029His)
c.932G>C
c.1149G>C
c.3118G>C (p.Asp1040His)
n.77G>C
 dbSNP gnomAD v2 gnomAD v4
12g.51769048G=CA2036188060SCN8Ac.3085G= (p.Asp1029=)
c.932G=
c.1149G=
c.3118G= (p.Asp1040=)
n.77G=
12g.51769048G>TCA384892353SCN8Ac.3085G>T (p.Asp1029Tyr)
c.932G>T
c.1149G>T
c.3118G>T (p.Asp1040Tyr)
n.77G>T
12g.51769049A>CCA384892356SCN8Ac.3086A>C (p.Asp1029Ala)
c.933A>C
c.1150A>C
c.3119A>C (p.Asp1040Ala)
n.78A>C
12g.51769049A>GCA384892358SCN8Ac.3086A>G (p.Asp1029Gly)
c.933A>G
c.1150A>G
c.3119A>G (p.Asp1040Gly)
n.78A>G
12g.51769049A>TCA384892360SCN8Ac.3086A>T (p.Asp1029Val)
c.933A>T
c.1150A>T
c.3119A>T (p.Asp1040Val)
n.78A>T
 ClinVar
12g.51769050T>ACA384892363SCN8Ac.3087T>A (p.Asp1029Glu)
c.934T>A
c.1151T>A
c.3120T>A (p.Asp1040Glu)
n.79T>A
12g.51769050T>CCA479790020SCN8Ac.3087T>C (p.Asp1029=)
c.934T>C
c.1151T>C
c.3120T>C (p.Asp1040=)
n.79T>C
12g.51769050T>GCA384892366SCN8Ac.3087T>G (p.Asp1029Glu)
c.934T>G
c.1151T>G
c.3120T>G (p.Asp1040Glu)
n.79T>G
12g.51769051G>ACA384892369SCN8Ac.3088G>A (p.Glu1030Lys)
c.935G>A
c.1152G>A
c.3121G>A (p.Glu1041Lys)
n.80G>A
 gnomAD v4
12g.51769051G>CCA384892367SCN8Ac.3088G>C (p.Glu1030Gln)
c.935G>C
c.1152G>C
c.3121G>C (p.Glu1041Gln)
n.80G>C
12g.51769051G=CA2036188062SCN8Ac.3088G= (p.Glu1030=)
c.935G=
c.1152G=
c.3121G= (p.Glu1041=)
n.80G=
12g.51769051G>TCA384892368SCN8Ac.3088G>T (p.Glu1030Ter)
c.935G>T
c.1152G>T
c.3121G>T (p.Glu1041Ter)
n.80G>T
 dbSNP
12g.51769052A>CCA384892371SCN8Ac.3089A>C (p.Glu1030Ala)
c.936A>C
c.1153A>C
c.3122A>C (p.Glu1041Ala)
n.81A>C
12g.51769052A>GCA384892372SCN8Ac.3089A>G (p.Glu1030Gly)
c.936A>G
c.1153A>G
c.3122A>G (p.Glu1041Gly)
n.81A>G
12g.51769052A>TCA384892374SCN8Ac.3089A>T (p.Glu1030Val)
c.936A>T
c.1153A>T
c.3122A>T (p.Glu1041Val)
n.81A>T
12g.51769053G>ACA16607347SCN8Ac.3090G>A (p.Glu1030=)
c.937G>A
c.1154G>A
c.3123G>A (p.Glu1041=)
n.82G>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
12g.51769053G>CCA384892376SCN8Ac.3090G>C (p.Glu1030Asp)
c.937G>C
c.1154G>C
c.3123G>C (p.Glu1041Asp)
n.82G>C
12g.51769053G=CA2036188065SCN8Ac.3090G= (p.Glu1030=)
c.937G=
c.1154G=
c.3123G= (p.Glu1041=)
n.82G=
12g.51769053G>TCA384892377SCN8Ac.3090G>T (p.Glu1030Asp)
c.937G>T
c.1154G>T
c.3123G>T (p.Glu1041Asp)
n.82G>T

Number of alleles fetched