Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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) | |
6 | g.121447071T>A | CA365558307 | GJA1 | c.224T>A (p.Val75Glu) | |
6 | g.121447071T>C | CA365558308 | GJA1 | c.224T>C (p.Val75Ala) | |
6 | g.121447071T>G | CA365558310 | GJA1 | c.224T>G (p.Val75Gly) | |
6 | g.121447072G>A | CA452134284 | GJA1 | c.225G>A (p.Val75=) | |
6 | g.121447072G>C | CA452134287 | GJA1 | c.225G>C (p.Val75=) | |
6 | g.121447072G>T | CA452134288 | GJA1 | c.225G>T (p.Val75=) | |
6 | g.121447073C>A | CA127020 | GJA1 | c.226C>A (p.Arg76Ser) | ClinVar dbSNP |
6 | g.121447073C= | CA1659501528 | GJA1 | c.226C= (p.Arg76=) | |
6 | g.121447073C>G | CA365558313 | GJA1 | c.226C>G (p.Arg76Gly) | |
6 | g.121447073C>T | CA365558314 | GJA1 | c.226C>T (p.Arg76Cys) | ClinVar |
6 | g.121447074G>A | CA127019 | GJA1 | c.227G>A (p.Arg76His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.121447074G>C | CA365558318 | GJA1 | c.227G>C (p.Arg76Pro) | |
6 | g.121447074G= | CA1659501529 | GJA1 | c.227G= (p.Arg76=) | |
6 | g.121447074G>T | CA365558320 | GJA1 | c.227G>T (p.Arg76Leu) | |
6 | g.121447075C>A | CA452134291 | GJA1 | c.228C>A (p.Arg76=) | |
6 | g.121447075C= | CA1659501530 | GJA1 | c.228C= (p.Arg76=) | |
6 | g.121447075C>G | CA452134292 | GJA1 | c.228C>G (p.Arg76=) | |
6 | g.121447075C>T | CA452134297 | GJA1 | c.228C>T (p.Arg76=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.121447076T>A | CA365558321 | GJA1 | c.229T>A (p.Phe77Ile) | |
6 | g.121447076T>C | CA365558322 | GJA1 | c.229T>C (p.Phe77Leu) | |
6 | g.121447076T>G | CA365558323 | GJA1 | c.229T>G (p.Phe77Val) | |
6 | g.121447077T>A | CA365558326 | GJA1 | c.230T>A (p.Phe77Tyr) | |
6 | g.121447077T>C | CA365558324 | GJA1 | c.230T>C (p.Phe77Ser) | |
6 | g.121447077T>G | CA365558325 | GJA1 | c.230T>G (p.Phe77Cys) | |
6 | g.121447078C>A | CA365558327 | GJA1 | c.231C>A (p.Phe77Leu) | |
6 | g.121447078C= | CA1659501531 | GJA1 | c.231C= (p.Phe77=) | |
6 | g.121447078C>G | CA365558329 | GJA1 | c.231C>G (p.Phe77Leu) | dbSNP |
6 | g.121447078C>T | CA452134301 | GJA1 | c.231C>T (p.Phe77=) | gnomAD v4 |
6 | g.121447079T>A | CA365558331 | GJA1 | c.232T>A (p.Trp78Arg) | |
6 | g.121447079T>C | CA365558333 | GJA1 | c.232T>C (p.Trp78Arg) | |
6 | g.121447079T>G | CA365558334 | GJA1 | c.232T>G (p.Trp78Gly) | |
6 | g.121447080G>A | CA365558335 | GJA1 | c.233G>A (p.Trp78Ter) | |
6 | g.121447080G>C | CA365558336 | GJA1 | c.233G>C (p.Trp78Ser) | |
6 | g.121447080G>T | CA365558337 | GJA1 | c.233G>T (p.Trp78Leu) | |
6 | g.121447081G>A | CA365558338 | GJA1 | c.234G>A (p.Trp78Ter) | |
6 | g.121447081G>C | CA365558340 | GJA1 | c.234G>C (p.Trp78Cys) | gnomAD v4 |
6 | g.121447081G>T | CA365558341 | GJA1 | c.234G>T (p.Trp78Cys) | |
6 | g.121447082G>A | CA365558344 | GJA1 | c.235G>A (p.Val79Ile) | |
6 | g.121447082G>C | CA365558345 | GJA1 | c.235G>C (p.Val79Leu) | |
6 | g.121447082G>T | CA365558343 | GJA1 | c.235G>T (p.Val79Phe) | |
6 | g.121447083T>A | CA365558346 | GJA1 | c.236T>A (p.Val79Asp) | |
6 | g.121447083T>C | CA365558348 | GJA1 | c.236T>C (p.Val79Ala) | |
6 | g.121447083T>G | CA365558350 | GJA1 | c.236T>G (p.Val79Gly) | |
6 | g.121447084C>A | CA452134314 | GJA1 | c.237C>A (p.Val79=) | |
6 | g.121447084C= | CA1659501532 | GJA1 | c.237C= (p.Val79=) | |
6 | g.121447084C>G | CA452134315 | GJA1 | c.237C>G (p.Val79=) | |
6 | g.121447084C>T | CA452134317 | GJA1 | c.237C>T (p.Val79=) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.121447085C>A | CA365558352 | GJA1 | c.238C>A (p.Leu80Met) | |
6 | g.121447085C>G | CA365558353 | GJA1 | c.238C>G (p.Leu80Val) | |
6 | g.121447085C>T | CA452134320 | GJA1 | c.238C>T (p.Leu80=) | gnomAD v4 |
6 | g.121447086T>A | CA365558355 | GJA1 | c.239T>A (p.Leu80Gln) | |
6 | g.121447086T>C | CA365558357 | GJA1 | c.239T>C (p.Leu80Pro) | |
6 | g.121447086T>G | CA365558359 | GJA1 | c.239T>G (p.Leu80Arg) | |
6 | g.121447087G>A | CA452134323 | GJA1 | c.240G>A (p.Leu80=) | dbSNP |
6 | g.121447087G>C | CA452134324 | GJA1 | c.240G>C (p.Leu80=) | |
6 | g.121447087G= | CA1659501533 | GJA1 | c.240G= (p.Leu80=) | |
6 | g.121447087G>T | CA452134325 | GJA1 | c.240G>T (p.Leu80=) | |
6 | g.121447088C>A | CA365558361 | GJA1 | c.241C>A (p.Gln81Lys) | |
6 | g.121447088C>G | CA365558362 | GJA1 | c.241C>G (p.Gln81Glu) | |
6 | g.121447088C>T | CA365558364 | GJA1 | c.241C>T (p.Gln81Ter) | |
6 | g.121447089A>C | CA365558366 | GJA1 | c.242A>C (p.Gln81Pro) | |
6 | g.121447089A>G | CA365558368 | GJA1 | c.242A>G (p.Gln81Arg) | |
6 | g.121447089A>T | CA365558370 | GJA1 | c.242A>T (p.Gln81Leu) | |
6 | g.121447090G>A | CA452134329 | GJA1 | c.243G>A (p.Gln81=) | gnomAD v4 |
6 | g.121447090G>C | CA365558372 | GJA1 | c.243G>C (p.Gln81His) | |
6 | g.121447090G>T | CA365558374 | GJA1 | c.243G>T (p.Gln81His) | |
6 | g.121447091A= | CA1659501534 | GJA1 | c.244A= (p.Ile82=) | |
6 | g.121447091A>C | CA365558376 | GJA1 | c.244A>C (p.Ile82Leu) | dbSNP |
6 | g.121447091A>G | CA365558377 | GJA1 | c.244A>G (p.Ile82Val) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.121447091A>T | CA365558379 | GJA1 | c.244A>T (p.Ile82Phe) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.121447092T>A | CA365558381 | GJA1 | c.245T>A (p.Ile82Asn) | |
6 | g.121447092T>C | CA365558383 | GJA1 | c.245T>C (p.Ile82Thr) | |
6 | g.121447092T>G | CA365558385 | GJA1 | c.245T>G (p.Ile82Ser) | |
6 | g.121447093C>A | CA452134336 | GJA1 | c.246C>A (p.Ile82=) | dbSNP |
6 | g.121447093C= | CA1659501535 | GJA1 | c.246C= (p.Ile82=) | |
6 | g.121447093C>G | CA365558386 | GJA1 | c.246C>G (p.Ile82Met) | ClinVar dbSNP |
6 | g.121447093C>T | CA452134339 | GJA1 | c.246C>T (p.Ile82=) | COSMIC |
6 | g.121447094A>C | CA365558389 | GJA1 | c.247A>C (p.Ile83Leu) | |
6 | g.121447094A>G | CA365558390 | GJA1 | c.247A>G (p.Ile83Val) | |
6 | g.121447094A>T | CA365558391 | GJA1 | c.247A>T (p.Ile83Leu) | |
6 | g.121447095T>A | CA365558394 | GJA1 | c.248T>A (p.Ile83Lys) | |
6 | g.121447095T>C | CA365558395 | GJA1 | c.248T>C (p.Ile83Thr) | |
6 | g.121447095T>G | CA365558397 | GJA1 | c.248T>G (p.Ile83Arg) | |
6 | g.121447096A>C | CA452134344 | GJA1 | c.249A>C (p.Ile83=) | |
6 | g.121447096A>G | CA365558399 | GJA1 | c.249A>G (p.Ile83Met) | |
6 | g.121447096A>T | CA452134347 | GJA1 | c.249A>T (p.Ile83=) | gnomAD v4 |
6 | g.121447097T>A | CA365558403 | GJA1 | c.250T>A (p.Phe84Ile) | |
6 | g.121447097T>C | CA365558405 | GJA1 | c.250T>C (p.Phe84Leu) | |
6 | g.121447097T>G | CA365558401 | GJA1 | c.250T>G (p.Phe84Val) |