6 | g.121446962_121446974delinsACAGCGGTTGAGT | CA1659501492 | GJA1 | c.115_127delinsACAGCGGTTGAGT (p.Thr39=)
| |
6 | g.121446967_121446978del | CA891842804 | GJA1 | c.120_131del (p.Val41_Ala44del)
| ClinVar dbSNP |
6 | g.121446970T>A | CA452134047 | GJA1 | c.123T>A (p.Val41=)
| |
6 | g.121446970T>C | CA452134048 | GJA1 | c.123T>C (p.Val41=)
| |
6 | g.121446970T>G | CA452134050 | GJA1 | c.123T>G (p.Val41=)
| |
6 | g.121446971G>A | CA365557960 | GJA1 | c.124G>A (p.Glu42Lys)
| |
6 | g.121446971G>C | CA365557961 | GJA1 | c.124G>C (p.Glu42Gln)
| |
6 | g.121446971G>T | CA365557962 | GJA1 | c.124G>T (p.Glu42Ter)
| COSMIC |
6 | g.121446972A>C | CA365557963 | GJA1 | c.125A>C (p.Glu42Ala)
| |
6 | g.121446972A>G | CA365557964 | GJA1 | c.125A>G (p.Glu42Gly)
| |
6 | g.121446972A>T | CA365557965 | GJA1 | c.125A>T (p.Glu42Val)
| |
6 | g.121446973G>A | CA452134052 | GJA1 | c.126G>A (p.Glu42=)
| |
6 | g.121446973G>C | CA365557967 | GJA1 | c.126G>C (p.Glu42Asp)
| |
6 | g.121446973G>T | CA365557966 | GJA1 | c.126G>T (p.Glu42Asp)
| |
6 | g.121446974T>A | CA365557968 | GJA1 | c.127T>A (p.Ser43Thr)
| |
6 | g.121446974T>C | CA365557969 | GJA1 | c.127T>C (p.Ser43Pro)
| |
6 | g.121446974T>G | CA365557970 | GJA1 | c.127T>G (p.Ser43Ala)
| |
6 | g.121446975C>A | CA365557971 | GJA1 | c.128C>A (p.Ser43Ter)
| |
6 | g.121446975C>G | CA365557972 | GJA1 | c.128C>G (p.Ser43Ter)
| |
6 | g.121446975C>T | CA365557973 | GJA1 | c.128C>T (p.Ser43Leu)
| |
6 | g.121446976A= | CA1659501496 | GJA1 | c.129A= (p.Ser43=)
| |
6 | g.121446976A>C | CA452134057 | GJA1 | c.129A>C (p.Ser43=)
| |
6 | g.121446976A>G | CA3981658 | GJA1 | c.129A>G (p.Ser43=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.121446976A>T | CA452134056 | GJA1 | c.129A>T (p.Ser43=)
| |
6 | g.121446977G>A | CA365557974 | GJA1 | c.130G>A (p.Ala44Thr)
| |
6 | g.121446977G>C | CA365557975 | GJA1 | c.130G>C (p.Ala44Pro)
| |
6 | g.121446977G>T | CA365557976 | GJA1 | c.130G>T (p.Ala44Ser)
| |
6 | g.121446977_121446978del | CA2680195055 | GJA1 | c.130_131del (p.Ala44LeufsTer4)
| gnomAD v4 |
6 | g.121446978C>A | CA365557977 | GJA1 | c.131C>A (p.Ala44Asp)
| |
6 | g.121446978C= | CA1659501497 | GJA1 | c.131C= (p.Ala44=)
| |
6 | g.121446978C>G | CA365557978 | GJA1 | c.131C>G (p.Ala44Gly)
| |
6 | g.121446978C>T | CA203901 | GJA1 | c.131C>T (p.Ala44Val)
| ClinVar dbSNP |
6 | g.121446979C>A | CA452134061 | GJA1 | c.132C>A (p.Ala44=)
| |
6 | g.121446979C= | CA1659501498 | GJA1 | c.132C= (p.Ala44=)
| |
6 | g.121446979C>G | CA452134062 | GJA1 | c.132C>G (p.Ala44=)
| |
6 | g.121446979C>T | CA3981659 | GJA1 | c.132C>T (p.Ala44=)
| dbSNP ExAC gnomAD v3 gnomAD v4 |
6 | g.121446980T>A | CA365557981 | GJA1 | c.133T>A (p.Trp45Arg)
| |
6 | g.121446980T>C | CA365557979 | GJA1 | c.133T>C (p.Trp45Arg)
| |
6 | g.121446980T>G | CA365557980 | GJA1 | c.133T>G (p.Trp45Gly)
| |
6 | g.121446981G>A | CA365557982 | GJA1 | c.134G>A (p.Trp45Ter)
| |
6 | g.121446981G>C | CA365557983 | GJA1 | c.134G>C (p.Trp45Ser)
| |
6 | g.121446981G>T | CA365557984 | GJA1 | c.134G>T (p.Trp45Leu)
| |
6 | g.121446982G>A | CA365557987 | GJA1 | c.135G>A (p.Trp45Ter)
| |
6 | g.121446982G>C | CA365557986 | GJA1 | c.135G>C (p.Trp45Cys)
| |
6 | g.121446982G= | CA1659501499 | GJA1 | c.135G= (p.Trp45=)
| |
6 | g.121446982G>T | CA365557985 | GJA1 | c.135G>T (p.Trp45Cys)
| |
6 | g.121446983G>A | CA365557988 | GJA1 | c.136G>A (p.Gly46Arg)
| |
6 | g.121446983G>C | CA365557989 | GJA1 | c.136G>C (p.Gly46Arg)
| |
6 | g.121446983G>T | CA365557990 | GJA1 | c.136G>T (p.Gly46Ter)
| |
6 | g.121446984_121446991dup | CA818131504 | GJA1 | c.137_144dup (p.Gln49GlufsTer?)
| dbSNP gnomAD v3 gnomAD v4 |
6 | g.121446984G>A | CA365557991 | GJA1 | c.137G>A (p.Gly46Glu)
| |
6 | g.121446984G>C | CA3981660 | GJA1 | c.137G>C (p.Gly46Ala)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.121446984G= | CA1659501500 | GJA1 | c.137G= (p.Gly46=)
| |
6 | g.121446984G>T | CA365557992 | GJA1 | c.137G>T (p.Gly46Val)
| dbSNP |
6 | g.121446985A>C | CA452134068 | GJA1 | c.138A>C (p.Gly46=)
| |
6 | g.121446985A>G | CA452134069 | GJA1 | c.138A>G (p.Gly46=)
| COSMIC |
6 | g.121446985A>T | CA452134070 | GJA1 | c.138A>T (p.Gly46=)
| |
6 | g.121446986G>A | CA365557993 | GJA1 | c.139G>A (p.Asp47Asn)
| |
6 | g.121446986G>C | CA365557995 | GJA1 | c.139G>C (p.Asp47His)
| |
6 | g.121446986G>T | CA365557994 | GJA1 | c.139G>T (p.Asp47Tyr)
| |
6 | g.121446987A= | CA1659501501 | GJA1 | c.140A= (p.Asp47=)
| |
6 | g.121446987A>C | CA365557996 | GJA1 | c.140A>C (p.Asp47Ala)
| |
6 | g.121446987A>G | CA365557997 | GJA1 | c.140A>G (p.Asp47Gly)
| |
6 | g.121446987A>T | CA365557998 | GJA1 | c.140A>T (p.Asp47Val)
| ClinVar dbSNP |
6 | g.121446988T>A | CA365557999 | GJA1 | c.141T>A (p.Asp47Glu)
| |
6 | g.121446988T>C | CA452134076 | GJA1 | c.141T>C (p.Asp47=)
| COSMIC |
6 | g.121446988T>G | CA365558000 | GJA1 | c.141T>G (p.Asp47Glu)
| |
6 | g.121446989G>A | CA365558001 | GJA1 | c.142G>A (p.Glu48Lys)
| ClinVar dbSNP |
6 | g.121446989G>C | CA365558002 | GJA1 | c.142G>C (p.Glu48Gln)
| |
6 | g.121446989G= | CA1659501502 | GJA1 | c.142G= (p.Glu48=)
| |
6 | g.121446989G>T | CA365558003 | GJA1 | c.142G>T (p.Glu48Ter)
| |
6 | g.121446990A>C | CA365558004 | GJA1 | c.143A>C (p.Glu48Ala)
| |
6 | g.121446990A>G | CA365558005 | GJA1 | c.143A>G (p.Glu48Gly)
| |
6 | g.121446990A>T | CA365558006 | GJA1 | c.143A>T (p.Glu48Val)
| |
6 | g.121446992_121446994dup | CA2695206908 | GJA1 | c.145_147dup (p.Gln49_Ser50insGln)
| |
6 | g.121446991G>A | CA452134079 | GJA1 | c.144G>A (p.Glu48=)
| gnomAD v4 |
6 | g.121446991G>C | CA365558008 | GJA1 | c.144G>C (p.Glu48Asp)
| |
6 | g.121446991G>T | CA365558007 | GJA1 | c.144G>T (p.Glu48Asp)
| |
6 | g.121446992C>A | CA365558009 | GJA1 | c.145C>A (p.Gln49Lys)
| COSMIC |
6 | g.121446992C>G | CA365558011 | GJA1 | c.145C>G (p.Gln49Glu)
| |
6 | g.121446992C>T | CA365558010 | GJA1 | c.145C>T (p.Gln49Ter)
| |
6 | g.121446993A>C | CA365558012 | GJA1 | c.146A>C (p.Gln49Pro)
| |
6 | g.121446993A>G | CA365558014 | GJA1 | c.146A>G (p.Gln49Arg)
| |
6 | g.121446993A>T | CA365558013 | GJA1 | c.146A>T (p.Gln49Leu)
| gnomAD v4 |
6 | g.121446994G>A | CA452134086 | GJA1 | c.147G>A (p.Gln49=)
| |
6 | g.121446994G>C | CA3981661 | GJA1 | c.147G>C (p.Gln49His)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.121446994G= | CA1659501503 | GJA1 | c.147G= (p.Gln49=)
| |
6 | g.121446994G>T | CA365558015 | GJA1 | c.147G>T (p.Gln49His)
| |
6 | g.121446995T>A | CA365558016 | GJA1 | c.148T>A (p.Ser50Thr)
| |
6 | g.121446995T>C | CA365558017 | GJA1 | c.148T>C (p.Ser50Pro)
| |
6 | g.121446995T>G | CA365558018 | GJA1 | c.148T>G (p.Ser50Ala)
| |
6 | g.121446996C>A | CA365558021 | GJA1 | c.149C>A (p.Ser50Tyr)
| |
6 | g.121446996C>G | CA365558020 | GJA1 | c.149C>G (p.Ser50Cys)
| |
6 | g.121446996C>T | CA365558019 | GJA1 | c.149C>T (p.Ser50Phe)
| |
6 | g.121446997T>A | CA452134093 | GJA1 | c.150T>A (p.Ser50=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.121446997T>C | CA452134091 | GJA1 | c.150T>C (p.Ser50=)
| gnomAD v4 |
6 | g.121446997T>G | CA452134092 | GJA1 | c.150T>G (p.Ser50=)
| |
6 | g.121446997T= | CA1659501504 | GJA1 | c.150T= (p.Ser50=)
| |
6 | g.121446998G>A | CA365558022 | GJA1 | c.151G>A (p.Ala51Thr)
| |
6 | g.121446998G>C | CA365558023 | GJA1 | c.151G>C (p.Ala51Pro)
| |
6 | g.121446998G>T | CA365558024 | GJA1 | c.151G>T (p.Ala51Ser)
| |
6 | g.121446999C>A | CA365558025 | GJA1 | c.152C>A (p.Ala51Asp)
| |
6 | g.121446999C>G | CA365558026 | GJA1 | c.152C>G (p.Ala51Gly)
| ClinVar |
6 | g.121446999C>T | CA365558027 | GJA1 | c.152C>T (p.Ala51Val)
| |
6 | g.121447000C>A | CA452134095 | GJA1 | c.153C>A (p.Ala51=)
| |
6 | g.121447000C= | CA1659501505 | GJA1 | c.153C= (p.Ala51=)
| |
6 | g.121447000C>G | CA452134096 | GJA1 | c.153C>G (p.Ala51=)
| dbSNP |
6 | g.121447000C>T | CA452134098 | GJA1 | c.153C>T (p.Ala51=)
| dbSNP |
6 | g.121447001T>A | CA365558028 | GJA1 | c.154T>A (p.Phe52Ile)
| |
6 | g.121447001T>C | CA365558030 | GJA1 | c.154T>C (p.Phe52Leu)
| |
6 | g.121447001T>G | CA365558029 | GJA1 | c.154T>G (p.Phe52Val)
| |
6 | g.121447001_121447003dup | CA913184965 | GJA1 | c.154_156dup (p.Phe52_Arg53insPhe)
| ClinVar dbSNP |
6 | g.121447002T>A | CA365558031 | GJA1 | c.155T>A (p.Phe52Tyr)
| |
6 | g.121447002T>C | CA365558032 | GJA1 | c.155T>C (p.Phe52Ser)
| |
6 | g.121447002T>G | CA365558033 | GJA1 | c.155T>G (p.Phe52Cys)
| |
6 | g.121447003T>A | CA365558034 | GJA1 | c.156T>A (p.Phe52Leu)
| |
6 | g.121447003T>C | CA452134101 | GJA1 | c.156T>C (p.Phe52=)
| |
6 | g.121447003T>G | CA365558035 | GJA1 | c.156T>G (p.Phe52Leu)
| |
6 | g.121447004C>A | CA365558036 | GJA1 | c.157C>A (p.Arg53Ser)
| |
6 | g.121447004C= | CA1659501506 | GJA1 | c.157C= (p.Arg53=)
| |
6 | g.121447004C>G | CA365558037 | GJA1 | c.157C>G (p.Arg53Gly)
| dbSNP gnomAD v4 COSMIC |
6 | g.121447004C>T | CA365558038 | GJA1 | c.157C>T (p.Arg53Cys)
| dbSNP gnomAD v2 gnomAD v4 COSMIC |
6 | g.121447005G>A | CA365558039 | GJA1 | c.158G>A (p.Arg53His)
| ClinVar gnomAD v4 |
6 | g.121447005G>C | CA365558040 | GJA1 | c.158G>C (p.Arg53Pro)
| |
6 | g.121447005G>T | CA365558041 | GJA1 | c.158G>T (p.Arg53Leu)
| COSMIC |
6 | g.121447006T>A | CA452134110 | GJA1 | c.159T>A (p.Arg53=)
| |
6 | g.121447006T>C | CA452134111 | GJA1 | c.159T>C (p.Arg53=)
| |
6 | g.121447006T>G | CA452134112 | GJA1 | c.159T>G (p.Arg53=)
| |
6 | g.121447007T>A | CA365558042 | GJA1 | c.160T>A (p.Cys54Ser)
| |
6 | g.121447007T>C | CA365558044 | GJA1 | c.160T>C (p.Cys54Arg)
| |
6 | g.121447007T>G | CA365558043 | GJA1 | c.160T>G (p.Cys54Gly)
| |
6 | g.121447008G>A | CA365558045 | GJA1 | c.161G>A (p.Cys54Tyr)
| |
6 | g.121447008G>C | CA365558046 | GJA1 | c.161G>C (p.Cys54Ser)
| gnomAD v4 |
6 | g.121447008G>T | CA365558047 | GJA1 | c.161G>T (p.Cys54Phe)
| |
6 | g.121447009T>A | CA365558049 | GJA1 | c.162T>A (p.Cys54Ter)
| |
6 | g.121447009T>C | CA452134120 | GJA1 | c.162T>C (p.Cys54=)
| |
6 | g.121447009T>G | CA365558051 | GJA1 | c.162T>G (p.Cys54Trp)
| |
6 | g.121447009dup | CA2499218051 | GJA1 | c.162dup (p.Asn55Ter)
| ClinVar dbSNP |
6 | g.121447010A>C | CA365558053 | GJA1 | c.163A>C (p.Asn55His)
| |
6 | g.121447010A>G | CA365558054 | GJA1 | c.163A>G (p.Asn55Asp)
| |
6 | g.121447010A>T | CA365558055 | GJA1 | c.163A>T (p.Asn55Tyr)
| |
6 | g.121447011A= | CA1659501507 | GJA1 | c.164A= (p.Asn55=)
| |
6 | g.121447011A>C | CA365558056 | GJA1 | c.164A>C (p.Asn55Thr)
| |
6 | g.121447011A>G | CA365558057 | GJA1 | c.164A>G (p.Asn55Ser)
| ClinVar dbSNP |
6 | g.121447011A>T | CA365558058 | GJA1 | c.164A>T (p.Asn55Ile)
| |
6 | g.121447012C>A | CA365558060 | GJA1 | c.165C>A (p.Asn55Lys)
| |
6 | g.121447012C= | CA1659501508 | GJA1 | c.165C= (p.Asn55=)
| |
6 | g.121447012C>G | CA365558062 | GJA1 | c.165C>G (p.Asn55Lys)
| |
6 | g.121447012C>T | CA452134125 | GJA1 | c.165C>T (p.Asn55=)
| dbSNP gnomAD v2 gnomAD v4 |
6 | g.121447013A>C | CA365558064 | GJA1 | c.166A>C (p.Thr56Pro)
| |
6 | g.121447013A>G | CA365558067 | GJA1 | c.166A>G (p.Thr56Ala)
| |
6 | g.121447013A>T | CA365558065 | GJA1 | c.166A>T (p.Thr56Ser)
| |
6 | g.121447014C>A | CA365558070 | GJA1 | c.167C>A (p.Thr56Asn)
| |
6 | g.121447014C>G | CA365558074 | GJA1 | c.167C>G (p.Thr56Ser)
| |
6 | g.121447014C>T | CA365558076 | GJA1 | c.167C>T (p.Thr56Ile)
| |
6 | g.121447015T>A | CA452134130 | GJA1 | c.168T>A (p.Thr56=)
| |
6 | g.121447015T>C | CA452134131 | GJA1 | c.168T>C (p.Thr56=)
| dbSNP gnomAD v3 gnomAD v4 |
6 | g.121447015T>G | CA3981662 | GJA1 | c.168T>G (p.Thr56=)
| dbSNP ExAC gnomAD v2 |
6 | g.121447015T= | CA1659501509 | GJA1 | c.168T= (p.Thr56=)
| |
6 | g.121447015dup | CA2695206909 | GJA1 | c.168dup (p.Gln57SerfsTer6)
| |
6 | g.121447016C>A | CA365558080 | GJA1 | c.169C>A (p.Gln57Lys)
| |
6 | g.121447016C= | CA1659501510 | GJA1 | c.169C= (p.Gln57=)
| |
6 | g.121447016C>G | CA365558082 | GJA1 | c.169C>G (p.Gln57Glu)
| |
6 | g.121447016C>T | CA365558084 | GJA1 | c.169C>T (p.Gln57Ter)
| dbSNP gnomAD v2 gnomAD v4 |
6 | g.121447017A>C | CA365558086 | GJA1 | c.170A>C (p.Gln57Pro)
| |
6 | g.121447017A>G | CA365558088 | GJA1 | c.170A>G (p.Gln57Arg)
| |
6 | g.121447017A>T | CA365558089 | GJA1 | c.170A>T (p.Gln57Leu)
| |
6 | g.121447018G>A | CA3981663 | GJA1 | c.171G>A (p.Gln57=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.121447018G>C | CA365558094 | GJA1 | c.171G>C (p.Gln57His)
| |
6 | g.121447018G= | CA1659501511 | GJA1 | c.171G= (p.Gln57=)
| |
6 | g.121447018G>T | CA365558092 | GJA1 | c.171G>T (p.Gln57His)
| |
6 | g.121447019C>A | CA365558100 | GJA1 | c.172C>A (p.Gln58Lys)
| |
6 | g.121447019C>G | CA365558096 | GJA1 | c.172C>G (p.Gln58Glu)
| |
6 | g.121447019C>T | CA365558098 | GJA1 | c.172C>T (p.Gln58Ter)
| |
6 | g.121447020A>C | CA365558101 | GJA1 | c.173A>C (p.Gln58Pro)
| |
6 | g.121447020A>G | CA365558102 | GJA1 | c.173A>G (p.Gln58Arg)
| |
6 | g.121447020A>T | CA365558103 | GJA1 | c.173A>T (p.Gln58Leu)
| |
6 | g.121447021A= | CA1659501512 | GJA1 | c.174A= (p.Gln58=)
| |
6 | g.121447021A>C | CA365558104 | GJA1 | c.174A>C (p.Gln58His)
| |
6 | g.121447021A>G | CA452134144 | GJA1 | c.174A>G (p.Gln58=)
| dbSNP gnomAD v2 gnomAD v4 |
6 | g.121447021A>T | CA365558105 | GJA1 | c.174A>T (p.Gln58His)
| |
6 | g.121447022C>A | CA365558107 | GJA1 | c.175C>A (p.Pro59Thr)
| |
6 | g.121447022C>G | CA365558110 | GJA1 | c.175C>G (p.Pro59Ala)
| |
6 | g.121447022C>T | CA365558112 | GJA1 | c.175C>T (p.Pro59Ser)
| |
6 | g.121447023C>A | CA365558114 | GJA1 | c.176C>A (p.Pro59His)
| |
6 | g.121447023C>G | CA365558116 | GJA1 | c.176C>G (p.Pro59Arg)
| |
6 | g.121447023C>T | CA365558117 | GJA1 | c.176C>T (p.Pro59Leu)
| |
6 | g.121447024T>A | CA452134154 | GJA1 | c.177T>A (p.Pro59=)
| |
6 | g.121447024T>C | CA452134155 | GJA1 | c.177T>C (p.Pro59=)
| |
6 | g.121447024T>G | CA452134152 | GJA1 | c.177T>G (p.Pro59=)
| |
6 | g.121447025G>A | CA365558120 | GJA1 | c.178G>A (p.Gly60Ser)
| |
6 | g.121447025G>C | CA365558122 | GJA1 | c.178G>C (p.Gly60Arg)
| |
6 | g.121447025G>T | CA365558121 | GJA1 | c.178G>T (p.Gly60Cys)
| COSMIC |
6 | g.121447026G>A | CA365558125 | GJA1 | c.179G>A (p.Gly60Asp)
| |
6 | g.121447026G>C | CA365558127 | GJA1 | c.179G>C (p.Gly60Ala)
| ClinVar |
6 | g.121447026G>T | CA365558128 | GJA1 | c.179G>T (p.Gly60Val)
| |
6 | g.121447027T>A | CA452134164 | GJA1 | c.180T>A (p.Gly60=)
| dbSNP gnomAD v3 gnomAD v4 |
6 | g.121447027T>C | CA452134163 | GJA1 | c.180T>C (p.Gly60=)
| ClinVar gnomAD v4 |
6 | g.121447027T>G | CA452134162 | GJA1 | c.180T>G (p.Gly60=)
| |
6 | g.121447027T= | CA1659501513 | GJA1 | c.180T= (p.Gly60=)
| |
6 | g.121447028T>A | CA365558130 | GJA1 | c.181T>A (p.Cys61Ser)
| |
6 | g.121447028T>C | CA365558132 | GJA1 | c.181T>C (p.Cys61Arg)
| |
6 | g.121447028T>G | CA365558133 | GJA1 | c.181T>G (p.Cys61Gly)
| |
6 | g.121447029G>A | CA365558135 | GJA1 | c.182G>A (p.Cys61Tyr)
| dbSNP |
6 | g.121447029G>C | CA365558137 | GJA1 | c.182G>C (p.Cys61Ser)
| |
6 | g.121447029G= | CA1659501514 | GJA1 | c.182G= (p.Cys61=)
| |
6 | g.121447029G>T | CA365558139 | GJA1 | c.182G>T (p.Cys61Phe)
| |
6 | g.121447030T>A | CA365558141 | GJA1 | c.183T>A (p.Cys61Ter)
| |
6 | g.121447030T>C | CA452134173 | GJA1 | c.183T>C (p.Cys61=)
| |
6 | g.121447030T>G | CA365558142 | GJA1 | c.183T>G (p.Cys61Trp)
| |
6 | g.121447031G>A | CA365558146 | GJA1 | c.184G>A (p.Glu62Lys)
| ClinVar |
6 | g.121447031G>C | CA365558148 | GJA1 | c.184G>C (p.Glu62Gln)
| |
6 | g.121447031G>T | CA365558144 | GJA1 | c.184G>T (p.Glu62Ter)
| |
6 | g.121447032A>C | CA365558151 | GJA1 | c.185A>C (p.Glu62Ala)
| |
6 | g.121447032A>G | CA365558152 | GJA1 | c.185A>G (p.Glu62Gly)
| |
6 | g.121447032A>T | CA365558155 | GJA1 | c.185A>T (p.Glu62Val)
| |
6 | g.121447033A>C | CA365558157 | GJA1 | c.186A>C (p.Glu62Asp)
| |
6 | g.121447033A>G | CA452134185 | GJA1 | c.186A>G (p.Glu62=)
| |
6 | g.121447033A>T | CA365558159 | GJA1 | c.186A>T (p.Glu62Asp)
| |
6 | g.121447034A= | CA1659501515 | GJA1 | c.187A= (p.Asn63=)
| |
6 | g.121447034A>C | CA365558163 | GJA1 | c.187A>C (p.Asn63His)
| ClinVar dbSNP |
6 | g.121447034A>G | CA365558162 | GJA1 | c.187A>G (p.Asn63Asp)
| ClinVar |
6 | g.121447034A>T | CA365558161 | GJA1 | c.187A>T (p.Asn63Tyr)
| |
6 | g.121447035A>C | CA365558165 | GJA1 | c.188A>C (p.Asn63Thr)
| |
6 | g.121447035A>G | CA365558167 | GJA1 | c.188A>G (p.Asn63Ser)
| |
6 | g.121447035A>T | CA365558169 | GJA1 | c.188A>T (p.Asn63Ile)
| |
6 | g.121447036T>A | CA365558171 | GJA1 | c.189T>A (p.Asn63Lys)
| |
6 | g.121447036T>C | CA3981664 | GJA1 | c.189T>C (p.Asn63=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.121447036T>G | CA365558173 | GJA1 | c.189T>G (p.Asn63Lys)
| ClinVar dbSNP |
6 | g.121447036T= | CA1659501516 | GJA1 | c.189T= (p.Asn63=)
| |
6 | g.121447037G>A | CA365558175 | GJA1 | c.190G>A (p.Val64Ile)
| |
6 | g.121447037G>C | CA365558178 | GJA1 | c.190G>C (p.Val64Leu)
| |
6 | g.121447037G>T | CA365558177 | GJA1 | c.190G>T (p.Val64Phe)
| |
6 | g.121447038T>A | CA365558180 | GJA1 | c.191T>A (p.Val64Asp)
| |
6 | g.121447038T>C | CA365558181 | GJA1 | c.191T>C (p.Val64Ala)
| |
6 | g.121447038T>G | CA365558183 | GJA1 | c.191T>G (p.Val64Gly)
| |
6 | g.121447039C>A | CA452134204 | GJA1 | c.192C>A (p.Val64=)
| |
6 | g.121447039C= | CA1659501517 | GJA1 | c.192C= (p.Val64=)
| |
6 | g.121447039C>G | CA452134205 | GJA1 | c.192C>G (p.Val64=)
| gnomAD v4 |
6 | g.121447039C>T | CA452134206 | GJA1 | c.192C>T (p.Val64=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
6 | g.121447040T>A | CA365558185 | GJA1 | c.193T>A (p.Cys65Ser)
| |
6 | g.121447040T>C | CA365558186 | GJA1 | c.193T>C (p.Cys65Arg)
| |
6 | g.121447040T>G | CA365558188 | GJA1 | c.193T>G (p.Cys65Gly)
| |
6 | g.121447041G>A | CA365558190 | GJA1 | c.194G>A (p.Cys65Tyr)
| |
6 | g.121447041G>C | CA365558191 | GJA1 | c.194G>C (p.Cys65Ser)
| |
6 | g.121447041G>T | CA365558193 | GJA1 | c.194G>T (p.Cys65Phe)
| |
6 | g.121447042C>A | CA365558195 | GJA1 | c.195C>A (p.Cys65Ter)
| |
6 | g.121447042C= | CA1659501518 | GJA1 | c.195C= (p.Cys65=)
| |
6 | g.121447042C>G | CA365558197 | GJA1 | c.195C>G (p.Cys65Trp)
| |
6 | g.121447042C>T | CA3981665 | GJA1 | c.195C>T (p.Cys65=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.121447043T>A | CA365558204 | GJA1 | c.196T>A (p.Tyr66Asn)
| |
6 | g.121447043T>C | CA365558202 | GJA1 | c.196T>C (p.Tyr66His)
| ClinVar dbSNP |
6 | g.121447043T>G | CA365558200 | GJA1 | c.196T>G (p.Tyr66Asp)
| |
6 | g.121447044A= | CA1659501519 | GJA1 | c.197A= (p.Tyr66=)
| |
6 | g.121447044A>C | CA365558206 | GJA1 | c.197A>C (p.Tyr66Ser)
| |
6 | g.121447044A>G | CA146810022 | GJA1 | c.197A>G (p.Tyr66Cys)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
6 | g.121447044A>T | CA365558207 | GJA1 | c.197A>T (p.Tyr66Phe)
| |
6 | g.121447045T>A | CA365558210 | GJA1 | c.198T>A (p.Tyr66Ter)
| |
6 | g.121447045T>C | CA452134221 | GJA1 | c.198T>C (p.Tyr66=)
| gnomAD v4 |
6 | g.121447045T>G | CA365558212 | GJA1 | c.198T>G (p.Tyr66Ter)
| |
6 | g.121447046G>A | CA365558214 | GJA1 | c.199G>A (p.Asp67Asn)
| |
6 | g.121447046G>C | CA365558216 | GJA1 | c.199G>C (p.Asp67His)
| |
6 | g.121447046G>T | CA365558217 | GJA1 | c.199G>T (p.Asp67Tyr)
| |
6 | g.121447047A>C | CA365558219 | GJA1 | c.200A>C (p.Asp67Ala)
| |
6 | g.121447047A>G | CA365558221 | GJA1 | c.200A>G (p.Asp67Gly)
| |
6 | g.121447047A>T | CA365558222 | GJA1 | c.200A>T (p.Asp67Val)
| |
6 | g.121447048C>A | CA365558223 | GJA1 | c.201C>A (p.Asp67Glu)
| |
6 | g.121447048C= | CA1659501520 | GJA1 | c.201C= (p.Asp67=)
| |
6 | g.121447048C>G | CA365558224 | GJA1 | c.201C>G (p.Asp67Glu)
| |
6 | g.121447048C>T | CA452134223 | GJA1 | c.201C>T (p.Asp67=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
6 | g.121447049A= | CA1659501521 | GJA1 | c.202A= (p.Lys68=)
| |
6 | g.121447049A>C | CA365558225 | GJA1 | c.202A>C (p.Lys68Gln)
| |
6 | g.121447049A>G | CA365558226 | GJA1 | c.202A>G (p.Lys68Glu)
| dbSNP gnomAD v3 gnomAD v4 |
6 | g.121447049A>T | CA365558227 | GJA1 | c.202A>T (p.Lys68Ter)
| |
6 | g.121447050A= | CA1659501522 | GJA1 | c.203A= (p.Lys68=)
| |
6 | g.121447050A>C | CA365558229 | GJA1 | c.203A>C (p.Lys68Thr)
| |
6 | g.121447050A>G | CA146810023 | GJA1 | c.203A>G (p.Lys68Arg)
| dbSNP gnomAD v2 gnomAD v4 |
6 | g.121447050A>T | CA365558228 | GJA1 | c.203A>T (p.Lys68Met)
| |
6 | g.121447051G>A | CA452134228 | GJA1 | c.204G>A (p.Lys68=)
| |
6 | g.121447051G>C | CA365558230 | GJA1 | c.204G>C (p.Lys68Asn)
| |
6 | g.121447051G>T | CA365558231 | GJA1 | c.204G>T (p.Lys68Asn)
| |
6 | g.121447052T>A | CA365558232 | GJA1 | c.205T>A (p.Ser69Thr)
| |
6 | g.121447052T>C | CA365558233 | GJA1 | c.205T>C (p.Ser69Pro)
| |
6 | g.121447052T>G | CA365558234 | GJA1 | c.205T>G (p.Ser69Ala)
| |
6 | g.121447053C>A | CA365558235 | GJA1 | c.206C>A (p.Ser69Tyr)
| |
6 | g.121447053C>G | CA365558236 | GJA1 | c.206C>G (p.Ser69Cys)
| |
6 | g.121447053C>T | CA365558237 | GJA1 | c.206C>T (p.Ser69Phe)
| |
6 | g.121447054T>A | CA452134236 | GJA1 | c.207T>A (p.Ser69=)
| |
6 | g.121447054T>C | CA452134238 | GJA1 | c.207T>C (p.Ser69=)
| |
6 | g.121447054T>G | CA452134240 | GJA1 | c.207T>G (p.Ser69=)
| |
6 | g.121447055T>A | CA365558238 | GJA1 | c.208T>A (p.Phe70Ile)
| |
6 | g.121447055T>C | CA365558240 | GJA1 | c.208T>C (p.Phe70Leu)
| |
6 | g.121447055T>G | CA365558241 | GJA1 | c.208T>G (p.Phe70Val)
| |
6 | g.121447056T>A | CA365558245 | GJA1 | c.209T>A (p.Phe70Tyr)
| |
6 | g.121447056T>C | CA365558247 | GJA1 | c.209T>C (p.Phe70Ser)
| |
6 | g.121447056T>G | CA365558244 | GJA1 | c.209T>G (p.Phe70Cys)
| |
6 | g.121447057C>A | CA365558249 | GJA1 | c.210C>A (p.Phe70Leu)
| |
6 | g.121447057C>G | CA365558250 | GJA1 | c.210C>G (p.Phe70Leu)
| |
6 | g.121447057C>T | CA452134248 | GJA1 | c.210C>T (p.Phe70=)
| |
6 | g.121447058C>A | CA365558252 | GJA1 | c.211C>A (p.Pro71Thr)
| |
6 | g.121447058C>G | CA365558254 | GJA1 | c.211C>G (p.Pro71Ala)
| |
6 | g.121447058C>T | CA365558255 | GJA1 | c.211C>T (p.Pro71Ser)
| |
6 | g.121447059C>A | CA365558257 | GJA1 | c.212C>A (p.Pro71Gln)
| |
6 | g.121447059C= | CA1659501523 | GJA1 | c.212C= (p.Pro71=)
| |
6 | g.121447059C>G | CA365558259 | GJA1 | c.212C>G (p.Pro71Arg)
| |
6 | g.121447059C>T | CA365558261 | GJA1 | c.212C>T (p.Pro71Leu)
| dbSNP |
6 | g.121447060A>C | CA452134258 | GJA1 | c.213A>C (p.Pro71=)
| |
6 | g.121447060A>G | CA452134259 | GJA1 | c.213A>G (p.Pro71=)
| |
6 | g.121447060A>T | CA452134261 | GJA1 | c.213A>T (p.Pro71=)
| |
6 | g.121447061A>C | CA365558264 | GJA1 | c.214A>C (p.Ile72Leu)
| |
6 | g.121447061A>G | CA365558265 | GJA1 | c.214A>G (p.Ile72Val)
| gnomAD v4 |
6 | g.121447061A>T | CA365558267 | GJA1 | c.214A>T (p.Ile72Phe)
| |
6 | g.121447061_121447063delinsATC | CA1659501524 | GJA1 | c.214_216delinsATC (p.Ile72=)
| |
6 | g.121447062T>A | CA365558271 | GJA1 | c.215T>A (p.Ile72Asn)
| |
6 | g.121447062T>C | CA365558272 | GJA1 | c.215T>C (p.Ile72Thr)
| |
6 | g.121447062T>G | CA365558269 | GJA1 | c.215T>G (p.Ile72Ser)
| |
6 | g.121447066_121447067del | CA570510545 | GJA1 | c.219_220del (p.His74CysfsTer?)
| dbSNP gnomAD v2 gnomAD v4 |
6 | g.121447063C>A | CA452134262 | GJA1 | c.216C>A (p.Ile72=)
| gnomAD v4 |
6 | g.121447063C= | CA1659501525 | GJA1 | c.216C= (p.Ile72=)
| |
6 | g.121447063C>G | CA365558273 | GJA1 | c.216C>G (p.Ile72Met)
| gnomAD v4 |
6 | g.121447063C>T | CA3981666 | GJA1 | c.216C>T (p.Ile72=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.121447064T>A | CA365558276 | GJA1 | c.217T>A (p.Ser73Thr)
| |
6 | g.121447064T>C | CA365558278 | GJA1 | c.217T>C (p.Ser73Pro)
| |
6 | g.121447064T>G | CA365558280 | GJA1 | c.217T>G (p.Ser73Ala)
| |
6 | g.121447065C>A | CA365558285 | GJA1 | c.218C>A (p.Ser73Tyr)
| |
6 | g.121447065C>G | CA365558281 | GJA1 | c.218C>G (p.Ser73Cys)
| |
6 | g.121447065C>T | CA365558283 | GJA1 | c.218C>T (p.Ser73Phe)
| |
6 | g.121447066T>A | CA452134270 | GJA1 | c.219T>A (p.Ser73=)
| |
6 | g.121447066T>C | CA452134271 | GJA1 | c.219T>C (p.Ser73=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
6 | g.121447066T>G | CA452134272 | GJA1 | c.219T>G (p.Ser73=)
| |
6 | g.121447066T= | CA1659501526 | GJA1 | c.219T= (p.Ser73=)
| |
6 | g.121447067C>A | CA365558288 | GJA1 | c.220C>A (p.His74Asn)
| |
6 | g.121447067C>G | CA365558289 | GJA1 | c.220C>G (p.His74Asp)
| |
6 | g.121447067C>T | CA365558290 | GJA1 | c.220C>T (p.His74Tyr)
| |
6 | g.121447068A>C | CA365558292 | GJA1 | c.221A>C (p.His74Pro)
| |
6 | g.121447068A>G | CA365558294 | GJA1 | c.221A>G (p.His74Arg)
| |
6 | g.121447068A>T | CA365558295 | GJA1 | c.221A>T (p.His74Leu)
| |
6 | g.121447068_121447069del | CA2578728864 | GJA1 | c.221_222del (p.His74ArgfsTer?)
| |
6 | g.121447069T>A | CA365558299 | GJA1 | c.222T>A (p.His74Gln)
| |
6 | g.121447069T>C | CA452134279 | GJA1 | c.222T>C (p.His74=)
| dbSNP gnomAD v4 |
6 | g.121447069T>G | CA365558297 | GJA1 | c.222T>G (p.His74Gln)
| |
6 | g.121447069T= | CA1659501527 | GJA1 | c.222T= (p.His74=)
| |
6 | g.121447070G>A | CA365558302 | GJA1 | c.223G>A (p.Val75Met)
| gnomAD v4 |
6 | g.121447070G>C | CA365558305 | GJA1 | c.223G>C (p.Val75Leu)
| gnomAD v4 |
6 | g.121447070G>T | CA365558304 | GJA1 | c.223G>T (p.Val75Leu)
| |