Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.51768913_51768933delCA2580086436SCN8Ac.2950_2970del (p.Asn984_Asp990del)
c.797_817del
c.1014_1034del
c.2983_3003del (p.Asn995_Asp1001del)
 ClinVar
12g.51768915C>ACA384891868SCN8Ac.2952C>A (p.Asn984Lys)
c.799C>A
c.1016C>A
c.2985C>A (p.Asn995Lys)
12g.51768915C=CA2036187699SCN8Ac.2952C= (p.Asn984=)
c.799C=
c.1016C=
c.2985C= (p.Asn995=)
12g.51768915C>GCA10575719SCN8Ac.2952C>G (p.Asn984Lys)
c.799C>G
c.1016C>G
c.2985C>G (p.Asn995Lys)
 ClinVar dbSNP
12g.51768915C>TCA479789541SCN8Ac.2952C>T (p.Asn984=)
c.799C>T
c.1016C>T
c.2985C>T (p.Asn995=)
12g.51768916C>ACA384891872SCN8Ac.2953C>A (p.Leu985Met)
c.800C>A
c.1017C>A
c.2986C>A (p.Leu996Met)
12g.51768916C=CA2036187706SCN8Ac.2953C= (p.Leu985=)
c.800C=
c.1017C=
c.2986C= (p.Leu996=)
12g.51768916C>GCA384891873SCN8Ac.2953C>G (p.Leu985Val)
c.800C>G
c.1017C>G
c.2986C>G (p.Leu996Val)
12g.51768916C>TCA479789546SCN8Ac.2953C>T (p.Leu985=)
c.800C>T
c.1017C>T
c.2986C>T (p.Leu996=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
12g.51768917T>ACA384891875SCN8Ac.2954T>A (p.Leu985Gln)
c.801T>A
c.1018T>A
c.2987T>A (p.Leu996Gln)
12g.51768917T>CCA384891877SCN8Ac.2954T>C (p.Leu985Pro)
c.801T>C
c.1018T>C
c.2987T>C (p.Leu996Pro)
12g.51768917T>GCA384891879SCN8Ac.2954T>G (p.Leu985Arg)
c.801T>G
c.1018T>G
c.2987T>G (p.Leu996Arg)
12g.51768918G>ACA479789550SCN8Ac.2955G>A (p.Leu985=)
c.802G>A
c.1019G>A
c.2988G>A (p.Leu996=)
12g.51768918G>CCA479789552SCN8Ac.2955G>C (p.Leu985=)
c.802G>C
c.1019G>C
c.2988G>C (p.Leu996=)
12g.51768918G>TCA479789554SCN8Ac.2955G>T (p.Leu985=)
c.802G>T
c.1019G>T
c.2988G>T (p.Leu996=)
12g.51768919G>ACA384891882SCN8Ac.2956G>A (p.Ala986Thr)
c.803G>A
c.1020G>A
c.2989G>A (p.Ala997Thr)
12g.51768919G>CCA384891884SCN8Ac.2956G>C (p.Ala986Pro)
c.803G>C
c.1020G>C
c.2989G>C (p.Ala997Pro)
12g.51768919G>TCA384891887SCN8Ac.2956G>T (p.Ala986Ser)
c.803G>T
c.1020G>T
c.2989G>T (p.Ala997Ser)
 gnomAD v4
12g.51768920C>ACA384891889SCN8Ac.2957C>A (p.Ala986Asp)
c.804C>A
c.1021C>A
c.2990C>A (p.Ala997Asp)
12g.51768920C>GCA384891891SCN8Ac.2957C>G (p.Ala986Gly)
c.804C>G
c.1021C>G
c.2990C>G (p.Ala997Gly)
12g.51768920C>TCA384891893SCN8Ac.2957C>T (p.Ala986Val)
c.804C>T
c.1021C>T
c.2990C>T (p.Ala997Val)
 gnomAD v4 COSMIC COSMIC
12g.51768921T>ACA479789560SCN8Ac.2958T>A (p.Ala986=)
c.805T>A
c.1022T>A
c.2991T>A (p.Ala997=)
12g.51768921T>CCA479789562SCN8Ac.2958T>C (p.Ala986=)
c.805T>C
c.1022T>C
c.2991T>C (p.Ala997=)
12g.51768921T>GCA479789564SCN8Ac.2958T>G (p.Ala986=)
c.805T>G
c.1022T>G
c.2991T>G (p.Ala997=)
12g.51768922G>ACA384891895SCN8Ac.2959G>A (p.Ala987Thr)
c.806G>A
c.1023G>A
c.2992G>A (p.Ala998Thr)
12g.51768922G>CCA384891900SCN8Ac.2959G>C (p.Ala987Pro)
c.806G>C
c.1023G>C
c.2992G>C (p.Ala998Pro)
12g.51768922G>TCA384891898SCN8Ac.2959G>T (p.Ala987Ser)
c.806G>T
c.1023G>T
c.2992G>T (p.Ala998Ser)
12g.51768923C>ACA384891903SCN8Ac.2960C>A (p.Ala987Asp)
c.807C>A
c.1024C>A
c.2993C>A (p.Ala998Asp)
12g.51768923C>GCA384891905SCN8Ac.2960C>G (p.Ala987Gly)
c.807C>G
c.1024C>G
c.2993C>G (p.Ala998Gly)
12g.51768923C>TCA384891907SCN8Ac.2960C>T (p.Ala987Val)
c.807C>T
c.1024C>T
c.2993C>T (p.Ala998Val)
 ClinVar
12g.51768924C>ACA479789571SCN8Ac.2961C>A (p.Ala987=)
c.808C>A
c.1025C>A
c.2994C>A (p.Ala998=)
12g.51768924C>GCA479789573SCN8Ac.2961C>G (p.Ala987=)
c.808C>G
c.1025C>G
c.2994C>G (p.Ala998=)
12g.51768924C>TCA479789575SCN8Ac.2961C>T (p.Ala987=)
c.808C>T
c.1025C>T
c.2994C>T (p.Ala998=)
12g.51768925A>CCA384891910SCN8Ac.2962A>C (p.Thr988Pro)
c.809A>C
c.1026A>C
c.2995A>C (p.Thr999Pro)
12g.51768925A>GCA384891913SCN8Ac.2962A>G (p.Thr988Ala)
c.809A>G
c.1026A>G
c.2995A>G (p.Thr999Ala)
12g.51768925A>TCA384891916SCN8Ac.2962A>T (p.Thr988Ser)
c.809A>T
c.1026A>T
c.2995A>T (p.Thr999Ser)
12g.51768926C>ACA384891919SCN8Ac.2963C>A (p.Thr988Lys)
c.810C>A
c.1027C>A
c.2996C>A (p.Thr999Lys)
12g.51768926C>GCA384891921SCN8Ac.2963C>G (p.Thr988Arg)
c.810C>G
c.1027C>G
c.2996C>G (p.Thr999Arg)
12g.51768926C>TCA384891931SCN8Ac.2963C>T (p.Thr988Ile)
c.810C>T
c.1027C>T
c.2996C>T (p.Thr999Ile)
12g.51768927A=CA2036187709SCN8Ac.2964A= (p.Thr988=)
c.811A=
c.1028A=
c.2997A= (p.Thr999=)
12g.51768927A>CCA479789583SCN8Ac.2964A>C (p.Thr988=)
c.811A>C
c.1028A>C
c.2997A>C (p.Thr999=)
12g.51768927A>GCA236318480SCN8Ac.2964A>G (p.Thr988=)
c.811A>G
c.1028A>G
c.2997A>G (p.Thr999=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.51768927A>TCA479789585SCN8Ac.2964A>T (p.Thr988=)
c.811A>T
c.1028A>T
c.2997A>T (p.Thr999=)
12g.51768928G>ACA384891935SCN8Ac.2965G>A (p.Asp989Asn)
c.812G>A
c.1029G>A
c.2998G>A (p.Asp1000Asn)
12g.51768928G>CCA384891937SCN8Ac.2965G>C (p.Asp989His)
c.812G>C
c.1029G>C
c.2998G>C (p.Asp1000His)
12g.51768928G=CA2036187715SCN8Ac.2965G= (p.Asp989=)
c.812G=
c.1029G=
c.2998G= (p.Asp1000=)
12g.51768928G>TCA384891939SCN8Ac.2965G>T (p.Asp989Tyr)
c.812G>T
c.1029G>T
c.2998G>T (p.Asp1000Tyr)
 ClinVar dbSNP
12g.51768929A=CA2036187720SCN8Ac.2966A= (p.Asp989=)
c.813A=
c.1030A=
c.2999A= (p.Asp1000=)
12g.51768929A>CCA384891945SCN8Ac.2966A>C (p.Asp989Ala)
c.813A>C
c.1030A>C
c.2999A>C (p.Asp1000Ala)
12g.51768929A>GCA384891948SCN8Ac.2966A>G (p.Asp989Gly)
c.813A>G
c.1030A>G
c.2999A>G (p.Asp1000Gly)
12g.51768929A>TCA384891942SCN8Ac.2966A>T (p.Asp989Val)
c.813A>T
c.1030A>T
c.2999A>T (p.Asp1000Val)
 ClinVar dbSNP
12g.51768930T>ACA6571533SCN8Ac.2967T>A (p.Asp989Glu)
c.814T>A
c.1031T>A
c.3000T>A (p.Asp1000Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.51768930T>CCA479789594SCN8Ac.2967T>C (p.Asp989=)
c.814T>C
c.1031T>C
c.3000T>C (p.Asp1000=)
 dbSNP
12g.51768930T>GCA384891950SCN8Ac.2967T>G (p.Asp989Glu)
c.814T>G
c.1031T>G
c.3000T>G (p.Asp1000Glu)
12g.51768930T=CA2036187726SCN8Ac.2967T= (p.Asp989=)
c.814T=
c.1031T=
c.3000T= (p.Asp1000=)
12g.51768931G>ACA384891953SCN8Ac.2968G>A (p.Asp990Asn)
c.815G>A
c.1032G>A
c.3001G>A (p.Asp1001Asn)
12g.51768931G>CCA384891954SCN8Ac.2968G>C (p.Asp990His)
c.815G>C
c.1032G>C
c.3001G>C (p.Asp1001His)
12g.51768931G>TCA384891955SCN8Ac.2968G>T (p.Asp990Tyr)
c.815G>T
c.1032G>T
c.3001G>T (p.Asp1001Tyr)
 gnomAD v4
12g.51768932A>CCA384891961SCN8Ac.2969A>C (p.Asp990Ala)
c.816A>C
c.1033A>C
c.3002A>C (p.Asp1001Ala)
12g.51768932A>GCA384891957SCN8Ac.2969A>G (p.Asp990Gly)
c.816A>G
c.1033A>G
c.3002A>G (p.Asp1001Gly)
12g.51768932A>TCA384891959SCN8Ac.2969A>T (p.Asp990Val)
c.816A>T
c.1033A>T
c.3002A>T (p.Asp1001Val)
12g.51768933C>ACA236318486SCN8Ac.2970C>A (p.Asp990Glu)
c.817C>A
c.1034C>A
c.3003C>A (p.Asp1001Glu)
 dbSNP gnomAD v4
12g.51768933C=CA2036187730SCN8Ac.2970C= (p.Asp990=)
c.817C=
c.1034C=
c.3003C= (p.Asp1001=)
12g.51768933C>GCA384891963SCN8Ac.2970C>G (p.Asp990Glu)
c.817C>G
c.1034C>G
c.3003C>G (p.Asp1001Glu)
12g.51768933C>TCA6571534SCN8Ac.2970C>T (p.Asp990=)
c.817C>T
c.1034C>T
c.3003C>T (p.Asp1001=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51768934G>ACA236318491SCN8Ac.2971G>A (p.Asp991Asn)
c.818G>A
c.1035G>A
c.3004G>A (p.Asp1002Asn)
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC
12g.51768934G>CCA236318493SCN8Ac.2971G>C (p.Asp991His)
c.818G>C
c.1035G>C
c.3004G>C (p.Asp1002His)
 dbSNP
12g.51768934G=CA2036187735SCN8Ac.2971G= (p.Asp991=)
c.818G=
c.1035G=
c.3004G= (p.Asp1002=)
12g.51768934G>TCA384891970SCN8Ac.2971G>T (p.Asp991Tyr)
c.818G>T
c.1035G>T
c.3004G>T (p.Asp1002Tyr)
12g.51768935A>CCA384891975SCN8Ac.2972A>C (p.Asp991Ala)
c.819A>C
c.1036A>C
c.3005A>C (p.Asp1002Ala)
12g.51768935A>GCA384891977SCN8Ac.2972A>G (p.Asp991Gly)
c.819A>G
c.1036A>G
c.3005A>G (p.Asp1002Gly)
12g.51768935A>TCA384891974SCN8Ac.2972A>T (p.Asp991Val)
c.819A>T
c.1036A>T
c.3005A>T (p.Asp1002Val)
12g.51768936T>ACA384891982SCN8Ac.2973T>A (p.Asp991Glu)
c.820T>A
c.1037T>A
c.3006T>A (p.Asp1002Glu)
 gnomAD v4
12g.51768936T>CCA479789614SCN8Ac.2973T>C (p.Asp991=)
c.820T>C
c.1037T>C
c.3006T>C (p.Asp1002=)
 gnomAD v4
12g.51768936T>GCA384891980SCN8Ac.2973T>G (p.Asp991Glu)
c.820T>G
c.1037T>G
c.3006T>G (p.Asp1002Glu)
12g.51768937G>ACA384891989SCN8Ac.2974G>A (p.Gly992Arg)
c.821G>A
c.1038G>A
c.3007G>A (p.Gly1003Arg)
12g.51768937G>CCA384891985SCN8Ac.2974G>C (p.Gly992Arg)
c.821G>C
c.1038G>C
c.3007G>C (p.Gly1003Arg)
12g.51768937G>TCA384891986SCN8Ac.2974G>T (p.Gly992Trp)
c.821G>T
c.1038G>T
c.3007G>T (p.Gly1003Trp)
12g.51768938G>ACA384891991SCN8Ac.2975G>A (p.Gly992Glu)
c.822G>A
c.1039G>A
c.3008G>A (p.Gly1003Glu)
 COSMIC
12g.51768938G>CCA384891993SCN8Ac.2975G>C (p.Gly992Ala)
c.822G>C
c.1039G>C
c.3008G>C (p.Gly1003Ala)
12g.51768938G>TCA384891995SCN8Ac.2975G>T (p.Gly992Val)
c.822G>T
c.1039G>T
c.3008G>T (p.Gly1003Val)
12g.51768939G>ACA479789622SCN8Ac.2976G>A (p.Gly992=)
c.823G>A
c.1040G>A
c.3009G>A (p.Gly1003=)
 gnomAD v4
12g.51768939G>CCA479789623SCN8Ac.2976G>C (p.Gly992=)
c.823G>C
c.1040G>C
c.3009G>C (p.Gly1003=)
12g.51768939G>TCA479789624SCN8Ac.2976G>T (p.Gly992=)
c.823G>T
c.1040G>T
c.3009G>T (p.Gly1003=)
12g.51768940G>ACA384891998SCN8Ac.2977G>A (p.Glu993Lys)
c.824G>A
c.1041G>A
c.3010G>A (p.Glu1004Lys)
12g.51768940G>CCA384891999SCN8Ac.2977G>C (p.Glu993Gln)
c.824G>C
c.1041G>C
c.3010G>C (p.Glu1004Gln)
12g.51768940G=CA2036187739SCN8Ac.2977G= (p.Glu993=)
c.824G=
c.1041G=
c.3010G= (p.Glu1004=)
12g.51768940G>TCA384892002SCN8Ac.2977G>T (p.Glu993Ter)
c.824G>T
c.1041G>T
c.3010G>T (p.Glu1004Ter)
 dbSNP
12g.51768941A>CCA384892008SCN8Ac.2978A>C (p.Glu993Ala)
c.825A>C
c.1042A>C
c.3011A>C (p.Glu1004Ala)
12g.51768941A>GCA384892011SCN8Ac.2978A>G (p.Glu993Gly)
c.825A>G
c.1042A>G
c.3011A>G (p.Glu1004Gly)
12g.51768941A>TCA384892014SCN8Ac.2978A>T (p.Glu993Val)
c.825A>T
c.1042A>T
c.3011A>T (p.Glu1004Val)
12g.51768942A=CA2036187742SCN8Ac.2979A= (p.Glu993=)
c.826A=
c.1043A=
c.3012A= (p.Glu1004=)
12g.51768942A>CCA384892017SCN8Ac.2979A>C (p.Glu993Asp)
c.826A>C
c.1043A>C
c.3012A>C (p.Glu1004Asp)
12g.51768942A>GCA479789634SCN8Ac.2979A>G (p.Glu993=)
c.826A>G
c.1043A>G
c.3012A>G (p.Glu1004=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.51768942A>TCA384892019SCN8Ac.2979A>T (p.Glu993Asp)
c.826A>T
c.1043A>T
c.3012A>T (p.Glu1004Asp)
12g.51768943A>CCA384892026SCN8Ac.2980A>C (p.Met994Leu)
c.827A>C
c.1044A>C
c.3013A>C (p.Met1005Leu)
12g.51768943A>GCA384892024SCN8Ac.2980A>G (p.Met994Val)
c.827A>G
c.1044A>G
c.3013A>G (p.Met1005Val)
12g.51768943A>TCA384892022SCN8Ac.2980A>T (p.Met994Leu)
c.827A>T
c.1044A>T
c.3013A>T (p.Met1005Leu)
12g.51768944T>ACA384892030SCN8Ac.2981T>A (p.Met994Lys)
c.828T>A
c.1045T>A
c.3014T>A (p.Met1005Lys)
12g.51768944T>CCA236318497SCN8Ac.2981T>C (p.Met994Thr)
c.828T>C
c.1045T>C
c.3014T>C (p.Met1005Thr)
 dbSNP
12g.51768944T>GCA384892034SCN8Ac.2981T>G (p.Met994Arg)
c.828T>G
c.1045T>G
c.3014T>G (p.Met1005Arg)
12g.51768944T=CA2036187746SCN8Ac.2981T= (p.Met994=)
c.828T=
c.1045T=
c.3014T= (p.Met1005=)
12g.51768945G>ACA384892036SCN8Ac.2982G>A (p.Met994Ile)
c.829G>A
c.1046G>A
c.3015G>A (p.Met1005Ile)
 gnomAD v4
12g.51768945G>CCA384892037SCN8Ac.2982G>C (p.Met994Ile)
c.829G>C
c.1046G>C
c.3015G>C (p.Met1005Ile)
 ClinVar
12g.51768945G>TCA384892038SCN8Ac.2982G>T (p.Met994Ile)
c.829G>T
c.1046G>T
c.3015G>T (p.Met1005Ile)
12g.51768946A=CA2036187816SCN8Ac.2983A= (p.Asn995=)
c.830A=
c.1047A=
c.3016A= (p.Asn1006=)
12g.51768946A>CCA384892039SCN8Ac.2983A>C (p.Asn995His)
c.830A>C
c.1047A>C
c.3016A>C (p.Asn1006His)
12g.51768946A>GCA384892040SCN8Ac.2983A>G (p.Asn995Asp)
c.830A>G
c.1047A>G
c.3016A>G (p.Asn1006Asp)
 ClinVar dbSNP
12g.51768946A>TCA384892041SCN8Ac.2983A>T (p.Asn995Tyr)
c.830A>T
c.1047A>T
c.3016A>T (p.Asn1006Tyr)
12g.51768947A>CCA384892042SCN8Ac.2984A>C (p.Asn995Thr)
c.831A>C
c.1048A>C
c.3017A>C (p.Asn1006Thr)
12g.51768947A>GCA384892043SCN8Ac.2984A>G (p.Asn995Ser)
c.831A>G
c.1048A>G
c.3017A>G (p.Asn1006Ser)
12g.51768947A>TCA384892044SCN8Ac.2984A>T (p.Asn995Ile)
c.831A>T
c.1048A>T
c.3017A>T (p.Asn1006Ile)
12g.51768948C>ACA384892045SCN8Ac.2985C>A (p.Asn995Lys)
c.832C>A
c.1049C>A
c.3018C>A (p.Asn1006Lys)
 ClinVar dbSNP
12g.51768948C=CA2036187820SCN8Ac.2985C= (p.Asn995=)
c.832C=
c.1049C=
c.3018C= (p.Asn1006=)
12g.51768948C>GCA384892046SCN8Ac.2985C>G (p.Asn995Lys)
c.832C>G
c.1049C>G
c.3018C>G (p.Asn1006Lys)
12g.51768948C>TCA479789653SCN8Ac.2985C>T (p.Asn995=)
c.832C>T
c.1049C>T
c.3018C>T (p.Asn1006=)
12g.51768949A>CCA384892049SCN8Ac.2986A>C (p.Asn996His)
c.833A>C
c.1050A>C
c.3019A>C (p.Asn1007His)
12g.51768949A>GCA384892048SCN8Ac.2986A>G (p.Asn996Asp)
c.833A>G
c.1050A>G
c.3019A>G (p.Asn1007Asp)
 ClinVar
12g.51768949A>TCA384892047SCN8Ac.2986A>T (p.Asn996Tyr)
c.833A>T
c.1050A>T
c.3019A>T (p.Asn1007Tyr)
12g.51768950A>CCA384892050SCN8Ac.2987A>C (p.Asn996Thr)
c.834A>C
c.1051A>C
c.3020A>C (p.Asn1007Thr)
12g.51768950A>GCA384892051SCN8Ac.2987A>G (p.Asn996Ser)
c.834A>G
c.1051A>G
c.3020A>G (p.Asn1007Ser)
12g.51768950A>TCA384892052SCN8Ac.2987A>T (p.Asn996Ile)
c.834A>T
c.1051A>T
c.3020A>T (p.Asn1007Ile)
12g.51768951C>ACA384892053SCN8Ac.2988C>A (p.Asn996Lys)
c.835C>A
c.1052C>A
c.3021C>A (p.Asn1007Lys)
12g.51768951C>GCA384892054SCN8Ac.2988C>G (p.Asn996Lys)
c.835C>G
c.1052C>G
c.3021C>G (p.Asn1007Lys)
 ClinVar
12g.51768951C>TCA479789661SCN8Ac.2988C>T (p.Asn996=)
c.835C>T
c.1052C>T
c.3021C>T (p.Asn1007=)
12g.51768952C>ACA384892057SCN8Ac.2989C>A (p.Leu997Ile)
c.836C>A
c.1053C>A
c.3022C>A (p.Leu1008Ile)
 COSMIC COSMIC
12g.51768952C>GCA384892056SCN8Ac.2989C>G (p.Leu997Val)
c.836C>G
c.1053C>G
c.3022C>G (p.Leu1008Val)
 gnomAD v4
12g.51768952C>TCA384892055SCN8Ac.2989C>T (p.Leu997Phe)
c.836C>T
c.1053C>T
c.3022C>T (p.Leu1008Phe)
 gnomAD v4
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

Number of alleles fetched