1 | g.228158080C>A | CA345097384 | GJC2 | c.322C>A (p.Gln108Lys)
| gnomAD v4 |
1 | g.228158080C= | CA1225623678 | GJC2 | c.322C= (p.Gln108=)
| |
1 | g.228158080C>G | CA345097386 | GJC2 | c.322C>G (p.Gln108Glu)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.228158080C>T | CA345097388 | GJC2 | c.322C>T (p.Gln108Ter)
| gnomAD v4 |
1 | g.228158081A>C | CA345097390 | GJC2 | c.323A>C (p.Gln108Pro)
| gnomAD v4 |
1 | g.228158081A>G | CA345097392 | GJC2 | c.323A>G (p.Gln108Arg)
| |
1 | g.228158081A>T | CA345097394 | GJC2 | c.323A>T (p.Gln108Leu)
| |
1 | g.228158082G>A | CA1430846 | GJC2 | c.324G>A (p.Gln108=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.228158082G>C | CA345097399 | GJC2 | c.324G>C (p.Gln108His)
| |
1 | g.228158082G= | CA1225623682 | GJC2 | c.324G= (p.Gln108=)
| |
1 | g.228158082G>T | CA345097397 | GJC2 | c.324G>T (p.Gln108His)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.228158083G>A | CA345097401 | GJC2 | c.325G>A (p.Glu109Lys)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.228158083G>C | CA345097403 | GJC2 | c.325G>C (p.Glu109Gln)
| |
1 | g.228158083G= | CA1225623687 | GJC2 | c.325G= (p.Glu109=)
| |
1 | g.228158083G>T | CA345097405 | GJC2 | c.325G>T (p.Glu109Ter)
| gnomAD v4 |
1 | g.228158084del | CA2650853802 | GJC2 | c.326del (p.Glu109GlyfsTer?)
| gnomAD v4 |
1 | g.228158084A= | CA1225623688 | GJC2 | c.326A= (p.Glu109=)
| |
1 | g.228158084A>C | CA345097407 | GJC2 | c.326A>C (p.Glu109Ala)
| |
1 | g.228158084A>G | CA1430847 | GJC2 | c.326A>G (p.Glu109Gly)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.228158084A>T | CA345097410 | GJC2 | c.326A>T (p.Glu109Val)
| |
1 | g.228158085G>A | CA423738749 | GJC2 | c.327G>A (p.Glu109=)
| gnomAD v4 |
1 | g.228158085G>C | CA345097411 | GJC2 | c.327G>C (p.Glu109Asp)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.228158085G= | CA1225623690 | GJC2 | c.327G= (p.Glu109=)
| |
1 | g.228158085G>T | CA345097413 | GJC2 | c.327G>T (p.Glu109Asp)
| gnomAD v4 |
1 | g.228158086C>A | CA423738750 | GJC2 | c.328C>A (p.Arg110=)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.228158086C= | CA1225623692 | GJC2 | c.328C= (p.Arg110=)
| |
1 | g.228158086C>G | CA345097414 | GJC2 | c.328C>G (p.Arg110Gly)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.228158086C>T | CA345097416 | GJC2 | c.328C>T (p.Arg110Trp)
| gnomAD v4 |
1 | g.228158087G>A | CA1430848 | GJC2 | c.329G>A (p.Arg110Gln)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.228158087G>C | CA345097419 | GJC2 | c.329G>C (p.Arg110Pro)
| dbSNP |
1 | g.228158087G= | CA1225623696 | GJC2 | c.329G= (p.Arg110=)
| |
1 | g.228158087G>T | CA345097421 | GJC2 | c.329G>T (p.Arg110Leu)
| gnomAD v4 |
1 | g.228158088G>A | CA423738756 | GJC2 | c.330G>A (p.Arg110=)
| gnomAD v4 |
1 | g.228158088G>C | CA423738758 | GJC2 | c.330G>C (p.Arg110=)
| dbSNP |
1 | g.228158088G= | CA1225623698 | GJC2 | c.330G= (p.Arg110=)
| |
1 | g.228158088G>T | CA423738757 | GJC2 | c.330G>T (p.Arg110=)
| |
1 | g.228158089C>A | CA345097425 | GJC2 | c.331C>A (p.Arg111Ser)
| gnomAD v4 |
1 | g.228158089C= | CA1225623700 | GJC2 | c.331C= (p.Arg111=)
| |
1 | g.228158089C>G | CA345097423 | GJC2 | c.331C>G (p.Arg111Gly)
| |
1 | g.228158089C>T | CA38727565 | GJC2 | c.331C>T (p.Arg111Cys)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.228158090_228158129del | CA2650853833 | GJC2 | c.332_371del (p.Arg111ProfsTer?)
| gnomAD v4 |
1 | g.228158090G>A | CA345097427 | GJC2 | c.332G>A (p.Arg111His)
| gnomAD v4 |
1 | g.228158090G>C | CA345097429 | GJC2 | c.332G>C (p.Arg111Pro)
| |
1 | g.228158090G>T | CA345097431 | GJC2 | c.332G>T (p.Arg111Leu)
| gnomAD v4 |
1 | g.228158091C>A | CA423738761 | GJC2 | c.333C>A (p.Arg111=)
| |
1 | g.228158091C>G | CA423738759 | GJC2 | c.333C>G (p.Arg111=)
| |
1 | g.228158091C>T | CA423738760 | GJC2 | c.333C>T (p.Arg111=)
| gnomAD v4 |
1 | g.228158092C>A | CA345097433 | GJC2 | c.334C>A (p.Arg112Ser)
| gnomAD v4 |
1 | g.228158092C>G | CA345097435 | GJC2 | c.334C>G (p.Arg112Gly)
| |
1 | g.228158092C>T | CA345097436 | GJC2 | c.334C>T (p.Arg112Cys)
| gnomAD v4 |
1 | g.228158093G>A | CA345097438 | GJC2 | c.335G>A (p.Arg112His)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.228158093G>C | CA1430849 | GJC2 | c.335G>C (p.Arg112Pro)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.228158093G= | CA1225623704 | GJC2 | c.335G= (p.Arg112=)
| |
1 | g.228158093G>T | CA345097441 | GJC2 | c.335G>T (p.Arg112Leu)
| gnomAD v4 |
1 | g.228158093_228158118delinsGCGCCCTCCGCCGCCGCCCGGGGCCA | CA1225623707 | GJC2 | c.335_360delinsGCGCCCTCCGCCGCCGCCCGGGGCCA (p.Arg112=)
| |
1 | g.228158094C>A | CA423738763 | GJC2 | c.336C>A (p.Arg112=)
| |
1 | g.228158094C= | CA1225623715 | GJC2 | c.336C= (p.Arg112=)
| |
1 | g.228158094C>G | CA423738765 | GJC2 | c.336C>G (p.Arg112=)
| gnomAD v4 |
1 | g.228158094C>T | CA423738766 | GJC2 | c.336C>T (p.Arg112=)
| dbSNP gnomAD v2 gnomAD v4 COSMIC |
1 | g.228158098_228158122del | CA732478079 | GJC2 | c.340_364del (p.Leu114AlafsTer?)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.228158095G>A | CA345097443 | GJC2 | c.337G>A (p.Ala113Thr)
| gnomAD v4 |
1 | g.228158095G>C | CA345097446 | GJC2 | c.337G>C (p.Ala113Pro)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.228158095G= | CA1225623716 | GJC2 | c.337G= (p.Ala113=)
| |
1 | g.228158095G>T | CA345097448 | GJC2 | c.337G>T (p.Ala113Ser)
| gnomAD v4 |
1 | g.228158096C>A | CA345097450 | GJC2 | c.338C>A (p.Ala113Asp)
| gnomAD v4 |
1 | g.228158096C= | CA1225623718 | GJC2 | c.338C= (p.Ala113=)
| |
1 | g.228158096C>G | CA345097453 | GJC2 | c.338C>G (p.Ala113Gly)
| |
1 | g.228158096C>T | CA345097451 | GJC2 | c.338C>T (p.Ala113Val)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.228158097C>A | CA423738772 | GJC2 | c.339C>A (p.Ala113=)
| gnomAD v4 |
1 | g.228158097C>G | CA423738774 | GJC2 | c.339C>G (p.Ala113=)
| |
1 | g.228158097C>T | CA423738775 | GJC2 | c.339C>T (p.Ala113=)
| gnomAD v4 |
1 | g.228158098C>A | CA345097456 | GJC2 | c.340C>A (p.Leu114Ile)
| gnomAD v4 |
1 | g.228158098C>G | CA345097459 | GJC2 | c.340C>G (p.Leu114Val)
| |
1 | g.228158098C>T | CA345097457 | GJC2 | c.340C>T (p.Leu114Phe)
| gnomAD v4 |
1 | g.228158099T>A | CA345097461 | GJC2 | c.341T>A (p.Leu114His)
| |
1 | g.228158099T>C | CA345097463 | GJC2 | c.341T>C (p.Leu114Pro)
| gnomAD v4 |
1 | g.228158099T>G | CA345097465 | GJC2 | c.341T>G (p.Leu114Arg)
| gnomAD v4 |
1 | g.228158099dup | CA2698393702 | GJC2 | c.341dup (p.Arg115ProfsTer23)
| dbSNP |
1 | g.228158099_228158102delinsTCCG | CA1225623721 | GJC2 | c.341_344delinsTCCG (p.Leu114=)
| |
1 | g.228158100C>A | CA423738778 | GJC2 | c.342C>A (p.Leu114=)
| gnomAD v4 |
1 | g.228158100C= | CA1225623724 | GJC2 | c.342C= (p.Leu114=)
| |
1 | g.228158100C>G | CA423738780 | GJC2 | c.342C>G (p.Leu114=)
| |
1 | g.228158100C>T | CA38727575 | GJC2 | c.342C>T (p.Leu114=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.228158108_228158110dup | CA2574010185 | GJC2 | c.350_352dup (p.Arg117_Pro118insArg)
| gnomAD v4 |
1 | g.228158108_228158110del | CA732478087 | GJC2 | c.350_352del (p.Arg117del)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.228158105_228158110del | CA2650853888 | GJC2 | c.347_352del (p.Arg116_Arg117del)
| gnomAD v4 |
1 | g.228158101C>A | CA345097468 | GJC2 | c.343C>A (p.Arg115Ser)
| gnomAD v4 |
1 | g.228158101C>G | CA345097469 | GJC2 | c.343C>G (p.Arg115Gly)
| |
1 | g.228158101C>T | CA345097472 | GJC2 | c.343C>T (p.Arg115Cys)
| ClinVar dbSNP gnomAD v4 |
1 | g.228158102G>A | CA345097474 | GJC2 | c.344G>A (p.Arg115His)
| dbSNP gnomAD v4 |
1 | g.228158102G>C | CA345097477 | GJC2 | c.344G>C (p.Arg115Pro)
| dbSNP |
1 | g.228158102G= | CA1225623726 | GJC2 | c.344G= (p.Arg115=)
| |
1 | g.228158102G>T | CA345097479 | GJC2 | c.344G>T (p.Arg115Leu)
| gnomAD v4 |
1 | g.228158103C>A | CA423738787 | GJC2 | c.345C>A (p.Arg115=)
| |
1 | g.228158103C= | CA1225623728 | GJC2 | c.345C= (p.Arg115=)
| |
1 | g.228158103C>G | CA38727596 | GJC2 | c.345C>G (p.Arg115=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.228158103C>T | CA423738785 | GJC2 | c.345C>T (p.Arg115=)
| gnomAD v4 |
1 | g.228158104C>A | CA345097481 | GJC2 | c.346C>A (p.Arg116Ser)
| |
1 | g.228158104C= | CA1225623731 | GJC2 | c.346C= (p.Arg116=)
| |
1 | g.228158104C>G | CA1430850 | GJC2 | c.346C>G (p.Arg116Gly)
| dbSNP ExAC gnomAD v4 |
1 | g.228158104C>T | CA345097484 | GJC2 | c.346C>T (p.Arg116Cys)
| dbSNP gnomAD v4 |
1 | g.228158105G>A | CA345097491 | GJC2 | c.347G>A (p.Arg116His)
| gnomAD v4 |
1 | g.228158105G>C | CA345097487 | GJC2 | c.347G>C (p.Arg116Pro)
| |
1 | g.228158105G>T | CA345097489 | GJC2 | c.347G>T (p.Arg116Leu)
| gnomAD v4 |
1 | g.228158106C>A | CA423738789 | GJC2 | c.348C>A (p.Arg116=)
| gnomAD v4 |
1 | g.228158106C>G | CA423738791 | GJC2 | c.348C>G (p.Arg116=)
| |
1 | g.228158106C>T | CA423738793 | GJC2 | c.348C>T (p.Arg116=)
| |
1 | g.228158107C>A | CA345097493 | GJC2 | c.349C>A (p.Arg117Ser)
| gnomAD v4 |
1 | g.228158107C>G | CA345097495 | GJC2 | c.349C>G (p.Arg117Gly)
| |
1 | g.228158107C>T | CA345097497 | GJC2 | c.349C>T (p.Arg117Cys)
| gnomAD v4 |
1 | g.228158108G>A | CA345097499 | GJC2 | c.350G>A (p.Arg117His)
| gnomAD v4 |
1 | g.228158108G>C | CA345097500 | GJC2 | c.350G>C (p.Arg117Pro)
| |
1 | g.228158108G= | CA1225623732 | GJC2 | c.350G= (p.Arg117=)
| |
1 | g.228158108G>T | CA345097502 | GJC2 | c.350G>T (p.Arg117Leu)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.228158109C>A | CA423738795 | GJC2 | c.351C>A (p.Arg117=)
| |
1 | g.228158109C= | CA1225623738 | GJC2 | c.351C= (p.Arg117=)
| |
1 | g.228158109C>G | CA423738796 | GJC2 | c.351C>G (p.Arg117=)
| |
1 | g.228158109C>T | CA423738797 | GJC2 | c.351C>T (p.Arg117=)
| dbSNP |
1 | g.228158111dup | CA1013058372 | GJC2 | c.353dup (p.Pro120AlafsTer18)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.228158110C>A | CA345097504 | GJC2 | c.352C>A (p.Pro118Thr)
| |
1 | g.228158110C= | CA1225623740 | GJC2 | c.352C= (p.Pro118=)
| |
1 | g.228158110C>G | CA345097506 | GJC2 | c.352C>G (p.Pro118Ala)
| |
1 | g.228158110C>T | CA1430851 | GJC2 | c.352C>T (p.Pro118Ser)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.228158111C>A | CA345097509 | GJC2 | c.353C>A (p.Pro118Gln)
| gnomAD v4 |
1 | g.228158111C>G | CA345097511 | GJC2 | c.353C>G (p.Pro118Arg)
| gnomAD v4 |
1 | g.228158111C>T | CA345097512 | GJC2 | c.353C>T (p.Pro118Leu)
| gnomAD v4 |
1 | g.228158112G>A | CA1430852 | GJC2 | c.354G>A (p.Pro118=)
| dbSNP ExAC gnomAD v4 |
1 | g.228158112G>C | CA423738803 | GJC2 | c.354G>C (p.Pro118=)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.228158112G= | CA1225623742 | GJC2 | c.354G= (p.Pro118=)
| |
1 | g.228158112G>T | CA423738801 | GJC2 | c.354G>T (p.Pro118=)
| gnomAD v4 |
1 | g.228158115dup | CA2650853949 | GJC2 | c.357dup (p.Pro120AlafsTer18)
| gnomAD v4 |
1 | g.228158115del | CA2533529944 | GJC2 | c.357del (p.Pro120HisfsTer?)
| gnomAD v4 |
1 | g.228158113G>A | CA345097518 | GJC2 | c.355G>A (p.Gly119Arg)
| gnomAD v4 |
1 | g.228158113G>C | CA345097515 | GJC2 | c.355G>C (p.Gly119Arg)
| |
1 | g.228158113G>T | CA345097516 | GJC2 | c.355G>T (p.Gly119Trp)
| |
1 | g.228158114G>A | CA345097520 | GJC2 | c.356G>A (p.Gly119Glu)
| gnomAD v4 |
1 | g.228158114G>C | CA345097522 | GJC2 | c.356G>C (p.Gly119Ala)
| |
1 | g.228158114G>T | CA345097524 | GJC2 | c.356G>T (p.Gly119Val)
| gnomAD v4 |
1 | g.228158115G>A | CA423738809 | GJC2 | c.357G>A (p.Gly119=)
| gnomAD v4 |
1 | g.228158115G>C | CA423738807 | GJC2 | c.357G>C (p.Gly119=)
| |
1 | g.228158115G>T | CA423738808 | GJC2 | c.357G>T (p.Gly119=)
| ClinVar |
1 | g.228158116C>A | CA345097531 | GJC2 | c.358C>A (p.Pro120Thr)
| gnomAD v4 |
1 | g.228158116C>G | CA345097529 | GJC2 | c.358C>G (p.Pro120Ala)
| |
1 | g.228158116C>T | CA345097527 | GJC2 | c.358C>T (p.Pro120Ser)
| gnomAD v4 |
1 | g.228158117C>A | CA345097534 | GJC2 | c.359C>A (p.Pro120Gln)
| |
1 | g.228158117C= | CA1225623745 | GJC2 | c.359C= (p.Pro120=)
| |
1 | g.228158117C>G | CA345097536 | GJC2 | c.359C>G (p.Pro120Arg)
| |
1 | g.228158117C>T | CA345097538 | GJC2 | c.359C>T (p.Pro120Leu)
| dbSNP |
1 | g.228158118A= | CA1225623748 | GJC2 | c.360A= (p.Pro120=)
| |
1 | g.228158118A>C | CA423738814 | GJC2 | c.360A>C (p.Pro120=)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.228158118A>G | CA423738815 | GJC2 | c.360A>G (p.Pro120=)
| ClinVar gnomAD v4 |
1 | g.228158118A>T | CA423738816 | GJC2 | c.360A>T (p.Pro120=)
| |
1 | g.228158118_228158155delinsACGCCGCGCGCCCCGAGCGCACCTGCCGCCCCCGCACG | CA1225623750 | GJC2 | c.360_397delinsACGCCGCGCGCCCCGAGCGCACCTGCCGCCCCCGCACG (p.Pro120=)
| |
1 | g.228158119C>A | CA345097540 | GJC2 | c.361C>A (p.Arg121Ser)
| dbSNP |
1 | g.228158119C= | CA1225623756 | GJC2 | c.361C= (p.Arg121=)
| |
1 | g.228158119C>G | CA345097542 | GJC2 | c.361C>G (p.Arg121Gly)
| |
1 | g.228158119C>T | CA345097544 | GJC2 | c.361C>T (p.Arg121Cys)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.228158120_228158156del | CA16617080 | GJC2 | c.362_398del (p.Arg121ProfsTer?)
| ClinVar dbSNP |
1 | g.228158120G>A | CA345097547 | GJC2 | c.362G>A (p.Arg121His)
| gnomAD v4 |
1 | g.228158120G>C | CA345097550 | GJC2 | c.362G>C (p.Arg121Pro)
| |
1 | g.228158120G>T | CA345097548 | GJC2 | c.362G>T (p.Arg121Leu)
| gnomAD v4 |
1 | g.228158121C>A | CA423738821 | GJC2 | c.363C>A (p.Arg121=)
| gnomAD v4 |
1 | g.228158121C= | CA1225623760 | GJC2 | c.363C= (p.Arg121=)
| |
1 | g.228158121C>G | CA423738822 | GJC2 | c.363C>G (p.Arg121=)
| ClinVar dbSNP gnomAD v4 |
1 | g.228158121C>T | CA423738824 | GJC2 | c.363C>T (p.Arg121=)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.228158122C>A | CA345097552 | GJC2 | c.364C>A (p.Arg122Ser)
| gnomAD v4 |
1 | g.228158122C= | CA1225623765 | GJC2 | c.364C= (p.Arg122=)
| |
1 | g.228158122C>G | CA345097554 | GJC2 | c.364C>G (p.Arg122Gly)
| ClinVar dbSNP gnomAD v4 |
1 | g.228158122C>T | CA345097556 | GJC2 | c.364C>T (p.Arg122Cys)
| dbSNP gnomAD v4 |
1 | g.228158127_228158128del | CA2580611555 | GJC2 | c.369_370del (p.Arg125SerfsTer12)
| ClinVar |
1 | g.228158122_228158123insT | CA345097558 | GJC2 | c.364_365insT (p.Arg122LeufsTer16)
| dbSNP |
1 | g.228158123G>A | CA345097560 | GJC2 | c.365G>A (p.Arg122His)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.228158123G>C | CA345097562 | GJC2 | c.365G>C (p.Arg122Pro)
| |
1 | g.228158123G= | CA1225623771 | GJC2 | c.365G= (p.Arg122=)
| |
1 | g.228158123G>T | CA345097564 | GJC2 | c.365G>T (p.Arg122Leu)
| gnomAD v4 |
1 | g.228158124C>A | CA423738829 | GJC2 | c.366C>A (p.Arg122=)
| |
1 | g.228158124C>G | CA423738827 | GJC2 | c.366C>G (p.Arg122=)
| gnomAD v4 |
1 | g.228158124C>T | CA423738828 | GJC2 | c.366C>T (p.Arg122=)
| gnomAD v4 |
1 | g.228158125G>A | CA345097566 | GJC2 | c.367G>A (p.Ala123Thr)
| gnomAD v4 |
1 | g.228158125G>C | CA345097568 | GJC2 | c.367G>C (p.Ala123Pro)
| |
1 | g.228158125G= | CA1225623776 | GJC2 | c.367G= (p.Ala123=)
| |
1 | g.228158125G>T | CA345097570 | GJC2 | c.367G>T (p.Ala123Ser)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.228158126C>A | CA345097577 | GJC2 | c.368C>A (p.Ala123Glu)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.228158126C= | CA1225623779 | GJC2 | c.368C= (p.Ala123=)
| |
1 | g.228158126C>G | CA345097575 | GJC2 | c.368C>G (p.Ala123Gly)
| |
1 | g.228158126C>T | CA345097573 | GJC2 | c.368C>T (p.Ala123Val)
| dbSNP gnomAD v4 |
1 | g.228158127G>A | CA423738833 | GJC2 | c.369G>A (p.Ala123=)
| gnomAD v4 |
1 | g.228158127G>C | CA423738835 | GJC2 | c.369G>C (p.Ala123=)
| |
1 | g.228158127G= | CA1225623782 | GJC2 | c.369G= (p.Ala123=)
| |
1 | g.228158127G>T | CA423738836 | GJC2 | c.369G>T (p.Ala123=)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.228158128C>A | CA345097579 | GJC2 | c.370C>A (p.Pro124Thr)
| |
1 | g.228158128C= | CA1225623784 | GJC2 | c.370C= (p.Pro124=)
| |
1 | g.228158128C>G | CA345097582 | GJC2 | c.370C>G (p.Pro124Ala)
| |
1 | g.228158128C>T | CA345097580 | GJC2 | c.370C>T (p.Pro124Ser)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.228158129_228158150dup | CA2573051505 | GJC2 | c.371_392dup (p.His132ProfsTer13)
| ClinVar dbSNP |
1 | g.228158129C>A | CA345097584 | GJC2 | c.371C>A (p.Pro124His)
| |
1 | g.228158129C>G | CA345097588 | GJC2 | c.371C>G (p.Pro124Arg)
| |
1 | g.228158129C>T | CA345097586 | GJC2 | c.371C>T (p.Pro124Leu)
| |
1 | g.228158130C>A | CA423738841 | GJC2 | c.372C>A (p.Pro124=)
| |
1 | g.228158130C= | CA1225623787 | GJC2 | c.372C= (p.Pro124=)
| |
1 | g.228158130C>G | CA423738842 | GJC2 | c.372C>G (p.Pro124=)
| ClinVar dbSNP gnomAD v4 |
1 | g.228158130C>T | CA423738843 | GJC2 | c.372C>T (p.Pro124=)
| gnomAD v4 |
1 | g.228158131C>A | CA423738844 | GJC2 | c.373C>A (p.Arg125=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.228158131C= | CA1145472087 | GJC2 | c.373C= (p.Arg125=)
| |
1 | g.228158131C>G | CA38727607 | GJC2 | c.373C>G (p.Arg125Gly)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.228158131C>T | CA345097592 | GJC2 | c.373C>T (p.Arg125Ter)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.228158132G>A | CA345097594 | GJC2 | c.374G>A (p.Arg125Gln)
| gnomAD v4 |
1 | g.228158132G>C | CA345097596 | GJC2 | c.374G>C (p.Arg125Pro)
| |
1 | g.228158132G>T | CA345097598 | GJC2 | c.374G>T (p.Arg125Leu)
| gnomAD v4 |
1 | g.228158133A>C | CA423738851 | GJC2 | c.375A>C (p.Arg125=)
| |
1 | g.228158133A>G | CA423738853 | GJC2 | c.375A>G (p.Arg125=)
| gnomAD v4 |
1 | g.228158133A>T | CA423738852 | GJC2 | c.375A>T (p.Arg125=)
| |
1 | g.228158134G>A | CA345097600 | GJC2 | c.376G>A (p.Ala126Thr)
| |
1 | g.228158134G>C | CA345097602 | GJC2 | c.376G>C (p.Ala126Pro)
| |
1 | g.228158134G= | CA1225623793 | GJC2 | c.376G= (p.Ala126=)
| |
1 | g.228158134G>T | CA345097604 | GJC2 | c.376G>T (p.Ala126Ser)
| |
1 | g.228158135C>A | CA345097605 | GJC2 | c.377C>A (p.Ala126Glu)
| |
1 | g.228158135C= | CA1225623797 | GJC2 | c.377C= (p.Ala126=)
| |
1 | g.228158135C>G | CA345097607 | GJC2 | c.377C>G (p.Ala126Gly)
| gnomAD v4 |
1 | g.228158135C>T | CA345097609 | GJC2 | c.377C>T (p.Ala126Val)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.228158138_228158146dup | CA2650854064 | GJC2 | c.380_388dup (p.Pro129_Pro130insHisLeuPro)
| gnomAD v4 |
1 | g.228158138_228158156dup | CA529465551 | GJC2 | c.380_398dup (p.Gly134ProfsTer10)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.228158136G>A | CA423738858 | GJC2 | c.378G>A (p.Ala126=)
| gnomAD v4 |
1 | g.228158136G>C | CA423738856 | GJC2 | c.378G>C (p.Ala126=)
| dbSNP |
1 | g.228158136G= | CA1225623801 | GJC2 | c.378G= (p.Ala126=)
| |
1 | g.228158136G>T | CA423738857 | GJC2 | c.378G>T (p.Ala126=)
| |
1 | g.228158137C>A | CA345097611 | GJC2 | c.379C>A (p.His127Asn)
| |
1 | g.228158137C>G | CA345097613 | GJC2 | c.379C>G (p.His127Asp)
| |
1 | g.228158137C>T | CA345097615 | GJC2 | c.379C>T (p.His127Tyr)
| |
1 | g.228158138A>C | CA345097622 | GJC2 | c.380A>C (p.His127Pro)
| |
1 | g.228158138A>G | CA345097617 | GJC2 | c.380A>G (p.His127Arg)
| |
1 | g.228158138A>T | CA345097620 | GJC2 | c.380A>T (p.His127Leu)
| |
1 | g.228158139C>A | CA345097623 | GJC2 | c.381C>A (p.His127Gln)
| gnomAD v4 |
1 | g.228158139C>G | CA345097625 | GJC2 | c.381C>G (p.His127Gln)
| |
1 | g.228158139C>T | CA423738870 | GJC2 | c.381C>T (p.His127=)
| gnomAD v4 |
1 | g.228158140C>A | CA345097628 | GJC2 | c.382C>A (p.Leu128Met)
| |
1 | g.228158140C= | CA1225623803 | GJC2 | c.382C= (p.Leu128=)
| |
1 | g.228158140C>G | CA345097630 | GJC2 | c.382C>G (p.Leu128Val)
| |
1 | g.228158140C>T | CA423738871 | GJC2 | c.382C>T (p.Leu128=)
| dbSNP |
1 | g.228158141T>A | CA345097632 | GJC2 | c.383T>A (p.Leu128Gln)
| |
1 | g.228158141T>C | CA345097634 | GJC2 | c.383T>C (p.Leu128Pro)
| dbSNP gnomAD v4 |
1 | g.228158141T>G | CA345097636 | GJC2 | c.383T>G (p.Leu128Arg)
| |
1 | g.228158141T= | CA1225623804 | GJC2 | c.383T= (p.Leu128=)
| |
1 | g.228158142G>A | CA423738874 | GJC2 | c.384G>A (p.Leu128=)
| gnomAD v4 |
1 | g.228158142G>C | CA423738875 | GJC2 | c.384G>C (p.Leu128=)
| |
1 | g.228158142G>T | CA423738876 | GJC2 | c.384G>T (p.Leu128=)
| dbSNP |
1 | g.228158143C>A | CA345097638 | GJC2 | c.385C>A (p.Pro129Thr)
| |
1 | g.228158143C>G | CA345097640 | GJC2 | c.385C>G (p.Pro129Ala)
| gnomAD v4 |
1 | g.228158143C>T | CA345097641 | GJC2 | c.385C>T (p.Pro129Ser)
| gnomAD v4 |
1 | g.228158144del | CA2586968350 | GJC2 | c.386del (p.Pro129ArgfsTer?)
| |
1 | g.228158144C>A | CA345097646 | GJC2 | c.386C>A (p.Pro129Gln)
| |
1 | g.228158144C>G | CA345097644 | GJC2 | c.386C>G (p.Pro129Arg)
| ClinVar gnomAD v4 |
1 | g.228158144C>T | CA345097643 | GJC2 | c.386C>T (p.Pro129Leu)
| gnomAD v4 COSMIC |
1 | g.228158145G>A | CA38727609 | GJC2 | c.387G>A (p.Pro129=)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.228158145G>C | CA423738880 | GJC2 | c.387G>C (p.Pro129=)
| |
1 | g.228158145G= | CA1225623806 | GJC2 | c.387G= (p.Pro129=)
| |
1 | g.228158145G>T | CA423738879 | GJC2 | c.387G>T (p.Pro129=)
| gnomAD v4 |
1 | g.228158145dup | CA2586968351 | GJC2 | c.387dup (p.Pro130AlafsTer8)
| |
1 | g.228158145_228158146delinsGC | CA1225623807 | GJC2 | c.387_388delinsGC (p.Pro129=)
| |
1 | g.228158146C>A | CA345097648 | GJC2 | c.388C>A (p.Pro130Thr)
| |
1 | g.228158146C= | CA1225623813 | GJC2 | c.388C= (p.Pro130=)
| |
1 | g.228158146C>G | CA345097650 | GJC2 | c.388C>G (p.Pro130Ala)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.228158146C>T | CA345097652 | GJC2 | c.388C>T (p.Pro130Ser)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.228158150dup | CA529465553 | GJC2 | c.392dup (p.His132AlafsTer6)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.228158150del | CA529465552 | GJC2 | c.392del (p.Pro131ArgfsTer?)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.228158147C>A | CA345097654 | GJC2 | c.389C>A (p.Pro130His)
| gnomAD v4 |
1 | g.228158147C>G | CA345097656 | GJC2 | c.389C>G (p.Pro130Arg)
| |
1 | g.228158147C>T | CA345097658 | GJC2 | c.389C>T (p.Pro130Leu)
| |
1 | g.228158148C>A | CA423738887 | GJC2 | c.390C>A (p.Pro130=)
| |
1 | g.228158148C= | CA1225623815 | GJC2 | c.390C= (p.Pro130=)
| |
1 | g.228158148C>G | CA423738888 | GJC2 | c.390C>G (p.Pro130=)
| |
1 | g.228158148C>T | CA423738889 | GJC2 | c.390C>T (p.Pro130=)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.228158149C>A | CA345097660 | GJC2 | c.391C>A (p.Pro131Thr)
| |
1 | g.228158149C>G | CA345097663 | GJC2 | c.391C>G (p.Pro131Ala)
| |
1 | g.228158149C>T | CA345097665 | GJC2 | c.391C>T (p.Pro131Ser)
| |
1 | g.228158150C>A | CA345097667 | GJC2 | c.392C>A (p.Pro131Gln)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.228158150C= | CA1225623819 | GJC2 | c.392C= (p.Pro131=)
| |
1 | g.228158150C>G | CA345097669 | GJC2 | c.392C>G (p.Pro131Arg)
| |
1 | g.228158150C>T | CA345097671 | GJC2 | c.392C>T (p.Pro131Leu)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.228158151G>A | CA423738894 | GJC2 | c.393G>A (p.Pro131=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.228158151G>C | CA423738895 | GJC2 | c.393G>C (p.Pro131=)
| gnomAD v4 |
1 | g.228158151G= | CA1225623822 | GJC2 | c.393G= (p.Pro131=)
| |
1 | g.228158151G>T | CA423738896 | GJC2 | c.393G>T (p.Pro131=)
| |
1 | g.228158152C>A | CA345097677 | GJC2 | c.394C>A (p.His132Asn)
| dbSNP |
1 | g.228158152C= | CA1225623824 | GJC2 | c.394C= (p.His132=)
| |
1 | g.228158152C>G | CA345097673 | GJC2 | c.394C>G (p.His132Asp)
| |
1 | g.228158152C>T | CA345097675 | GJC2 | c.394C>T (p.His132Tyr)
| |
1 | g.228158153A= | CA1225623825 | GJC2 | c.395A= (p.His132=)
| |
1 | g.228158153A>C | CA345097679 | GJC2 | c.395A>C (p.His132Pro)
| |
1 | g.228158153A>G | CA345097681 | GJC2 | c.395A>G (p.His132Arg)
| |
1 | g.228158153A>T | CA345097682 | GJC2 | c.395A>T (p.His132Leu)
| dbSNP |
1 | g.228158154C>A | CA345097684 | GJC2 | c.396C>A (p.His132Gln)
| dbSNP gnomAD v4 |
1 | g.228158154C= | CA1225623828 | GJC2 | c.396C= (p.His132=)
| |
1 | g.228158154C>G | CA345097687 | GJC2 | c.396C>G (p.His132Gln)
| gnomAD v4 |
1 | g.228158154C>T | CA423738904 | GJC2 | c.396C>T (p.His132=)
| gnomAD v4 |
1 | g.228158155G>A | CA345097689 | GJC2 | c.397G>A (p.Ala133Thr)
| dbSNP gnomAD v4 |
1 | g.228158155G>C | CA345097691 | GJC2 | c.397G>C (p.Ala133Pro)
| |
1 | g.228158155G>T | CA345097693 | GJC2 | c.397G>T (p.Ala133Ser)
| |
1 | g.228158156C>A | CA345097696 | GJC2 | c.398C>A (p.Ala133Asp)
| gnomAD v4 |
1 | g.228158156C>G | CA345097698 | GJC2 | c.398C>G (p.Ala133Gly)
| gnomAD v4 |
1 | g.228158156C>T | CA345097700 | GJC2 | c.398C>T (p.Ala133Val)
| gnomAD v4 |
1 | g.228158157C>A | CA423738907 | GJC2 | c.399C>A (p.Ala133=)
| |
1 | g.228158157C= | CA1225623829 | GJC2 | c.399C= (p.Ala133=)
| |
1 | g.228158157C>G | CA423738908 | GJC2 | c.399C>G (p.Ala133=)
| |
1 | g.228158157C>T | CA423738910 | GJC2 | c.399C>T (p.Ala133=)
| dbSNP gnomAD v4 |
1 | g.228158158G>A | CA345097704 | GJC2 | c.400G>A (p.Gly134Ser)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.228158158G>C | CA345097706 | GJC2 | c.400G>C (p.Gly134Arg)
| gnomAD v4 |
1 | g.228158158G= | CA1225623832 | GJC2 | c.400G= (p.Gly134=)
| |
1 | g.228158158G>T | CA345097702 | GJC2 | c.400G>T (p.Gly134Cys)
| gnomAD v4 |
1 | g.228158159G>A | CA345097711 | GJC2 | c.401G>A (p.Gly134Asp)
| gnomAD v4 |
1 | g.228158159G>C | CA345097708 | GJC2 | c.401G>C (p.Gly134Ala)
| |
1 | g.228158159G>T | CA345097710 | GJC2 | c.401G>T (p.Gly134Val)
| gnomAD v4 |
1 | g.228158160C>A | CA423738918 | GJC2 | c.402C>A (p.Gly134=)
| gnomAD v4 |
1 | g.228158160C= | CA1225623834 | GJC2 | c.402C= (p.Gly134=)
| |
1 | g.228158160C>G | CA423738916 | GJC2 | c.402C>G (p.Gly134=)
| dbSNP |
1 | g.228158160C>T | CA423738917 | GJC2 | c.402C>T (p.Gly134=)
| gnomAD v4 |
1 | g.228158161T>A | CA345097713 | GJC2 | c.403T>A (p.Trp135Arg)
| |
1 | g.228158161T>C | CA345097715 | GJC2 | c.403T>C (p.Trp135Arg)
| |
1 | g.228158161T>G | CA345097717 | GJC2 | c.403T>G (p.Trp135Gly)
| |
1 | g.228158162G>A | CA345097724 | GJC2 | c.404G>A (p.Trp135Ter)
| |
1 | g.228158162G>C | CA345097722 | GJC2 | c.404G>C (p.Trp135Ser)
| |
1 | g.228158162G>T | CA345097720 | GJC2 | c.404G>T (p.Trp135Leu)
| |
1 | g.228158162_228158163insT | CA2650854167 | GJC2 | c.404_405insT (p.Trp135CysfsTer3)
| gnomAD v4 |
1 | g.228158163G>A | CA345097726 | GJC2 | c.405G>A (p.Trp135Ter)
| gnomAD v4 |
1 | g.228158163G>C | CA345097727 | GJC2 | c.405G>C (p.Trp135Cys)
| |
1 | g.228158163G= | CA1225623837 | GJC2 | c.405G= (p.Trp135=)
| |
1 | g.228158163G>T | CA345097729 | GJC2 | c.405G>T (p.Trp135Cys)
| dbSNP gnomAD v4 |
1 | g.228158164C>A | CA345097732 | GJC2 | c.406C>A (p.Pro136Thr)
| gnomAD v4 |
1 | g.228158164C>G | CA345097733 | GJC2 | c.406C>G (p.Pro136Ala)
| |
1 | g.228158164C>T | CA345097736 | GJC2 | c.406C>T (p.Pro136Ser)
| gnomAD v4 |
1 | g.228158165C>A | CA345097738 | GJC2 | c.407C>A (p.Pro136His)
| gnomAD v4 |
1 | g.228158165C= | CA1225623841 | GJC2 | c.407C= (p.Pro136=)
| |
1 | g.228158165C>G | CA345097742 | GJC2 | c.407C>G (p.Pro136Arg)
| ClinVar dbSNP gnomAD v4 |
1 | g.228158165C>T | CA345097740 | GJC2 | c.407C>T (p.Pro136Leu)
| dbSNP |
1 | g.228158166T>A | CA423738925 | GJC2 | c.408T>A (p.Pro136=)
| |
1 | g.228158166T>C | CA423738927 | GJC2 | c.408T>C (p.Pro136=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.228158166T>G | CA423738929 | GJC2 | c.408T>G (p.Pro136=)
| |
1 | g.228158166T= | CA1225623848 | GJC2 | c.408T= (p.Pro136=)
| |
1 | g.228158167G>A | CA345097744 | GJC2 | c.409G>A (p.Glu137Lys)
| gnomAD v4 |
1 | g.228158167G>C | CA345097746 | GJC2 | c.409G>C (p.Glu137Gln)
| ClinVar dbSNP |
1 | g.228158167G>T | CA345097748 | GJC2 | c.409G>T (p.Glu137Ter)
| gnomAD v4 |
1 | g.228158168A>C | CA345097750 | GJC2 | c.410A>C (p.Glu137Ala)
| |
1 | g.228158168A>G | CA345097752 | GJC2 | c.410A>G (p.Glu137Gly)
| gnomAD v4 |
1 | g.228158168A>T | CA345097754 | GJC2 | c.410A>T (p.Glu137Val)
| |
1 | g.228158169G>A | CA423738934 | GJC2 | c.411G>A (p.Glu137=)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.228158169G>C | CA345097756 | GJC2 | c.411G>C (p.Glu137Asp)
| |
1 | g.228158169G= | CA1225623850 | GJC2 | c.411G= (p.Glu137=)
| |
1 | g.228158169G>T | CA345097758 | GJC2 | c.411G>T (p.Glu137Asp)
| gnomAD v4 |
1 | g.228158170C>A | CA345097760 | GJC2 | c.412C>A (p.Pro138Thr)
| ClinVar gnomAD v4 |
1 | g.228158170C= | CA1225623856 | GJC2 | c.412C= (p.Pro138=)
| |
1 | g.228158170C>G | CA345097762 | GJC2 | c.412C>G (p.Pro138Ala)
| |
1 | g.228158170C>T | CA345097764 | GJC2 | c.412C>T (p.Pro138Ser)
| dbSNP gnomAD v4 |
1 | g.228158171C>A | CA345097770 | GJC2 | c.413C>A (p.Pro138His)
| gnomAD v4 |
1 | g.228158171C>G | CA345097768 | GJC2 | c.413C>G (p.Pro138Arg)
| |
1 | g.228158171C>T | CA345097766 | GJC2 | c.413C>T (p.Pro138Leu)
| |
1 | g.228158172C>A | CA423738941 | GJC2 | c.414C>A (p.Pro138=)
| gnomAD v4 |
1 | g.228158172C= | CA1225623858 | GJC2 | c.414C= (p.Pro138=)
| |
1 | g.228158172C>G | CA423738938 | GJC2 | c.414C>G (p.Pro138=)
| gnomAD v4 |
1 | g.228158172C>T | CA423738939 | GJC2 | c.414C>T (p.Pro138=)
| ClinVar dbSNP gnomAD v4 |
1 | g.228158173G>A | CA345097772 | GJC2 | c.415G>A (p.Ala139Thr)
| gnomAD v4 |
1 | g.228158173G>C | CA345097774 | GJC2 | c.415G>C (p.Ala139Pro)
| dbSNP |
1 | g.228158173G= | CA1225623860 | GJC2 | c.415G= (p.Ala139=)
| |
1 | g.228158173G>T | CA345097776 | GJC2 | c.415G>T (p.Ala139Ser)
| gnomAD v4 |
1 | g.228158174C>A | CA345097778 | GJC2 | c.416C>A (p.Ala139Asp)
| gnomAD v4 |
1 | g.228158174C>G | CA345097780 | GJC2 | c.416C>G (p.Ala139Gly)
| |
1 | g.228158174C>T | CA345097782 | GJC2 | c.416C>T (p.Ala139Val)
| gnomAD v4 |
1 | g.228158175C>A | CA16603566 | GJC2 | c.417C>A (p.Ala139=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.228158175C= | CA1225623866 | GJC2 | c.417C= (p.Ala139=)
| |
1 | g.228158175C>G | CA38727621 | GJC2 | c.417C>G (p.Ala139=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.228158175C>T | CA423738946 | GJC2 | c.417C>T (p.Ala139=)
| gnomAD v4 |
1 | g.228158176G>A | CA38727625 | GJC2 | c.418G>A (p.Asp140Asn)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.228158176G>C | CA345097786 | GJC2 | c.418G>C (p.Asp140His)
| |
1 | g.228158176G= | CA1147006932 | GJC2 | c.418G= (p.Asp140=)
| |
1 | g.228158176G>T | CA345097788 | GJC2 | c.418G>T (p.Asp140Tyr)
| gnomAD v4 |
1 | g.228158177A>C | CA345097790 | GJC2 | c.419A>C (p.Asp140Ala)
| |
1 | g.228158177A>G | CA345097792 | GJC2 | c.419A>G (p.Asp140Gly)
| gnomAD v4 |
1 | g.228158177A>T | CA345097794 | GJC2 | c.419A>T (p.Asp140Val)
| |
1 | g.228158177_228158204delinsACCTGGGCGAGGAGGAGCCCATGCTGGG | CA1225623875 | GJC2 | c.419_446delinsACCTGGGCGAGGAGGAGCCCATGCTGGG (p.Asp140=)
| |
1 | g.228158178C>A | CA345097796 | GJC2 | c.420C>A (p.Asp140Glu)
| gnomAD v4 |
1 | g.228158178C= | CA1225623882 | GJC2 | c.420C= (p.Asp140=)
| |
1 | g.228158178C>G | CA345097797 | GJC2 | c.420C>G (p.Asp140Glu)
| |
1 | g.228158178C>T | CA423738956 | GJC2 | c.420C>T (p.Asp140=)
| dbSNP gnomAD v4 |
1 | g.228158194_228158220dup | CA2650854239 | GJC2 | c.436_462dup (p.Glu154_Glu155insProMetLeuGlyLeuGlyGluGluGlu)
| gnomAD v4 |
1 | g.228158194_228158220del | CA1430853 | GJC2 | c.436_462del (p.Pro146_Glu154del)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.228158179C>A | CA345097799 | GJC2 | c.421C>A (p.Leu141Met)
| gnomAD v4 |
1 | g.228158179C= | CA1225623886 | GJC2 | c.421C= (p.Leu141=)
| |
1 | g.228158179C>G | CA345097801 | GJC2 | c.421C>G (p.Leu141Val)
| gnomAD v4 |
1 | g.228158179C>T | CA423738958 | GJC2 | c.421C>T (p.Leu141=)
| dbSNP gnomAD v4 |
1 | g.228158180T>A | CA345097803 | GJC2 | c.422T>A (p.Leu141Gln)
| |
1 | g.228158180T>C | CA345097805 | GJC2 | c.422T>C (p.Leu141Pro)
| dbSNP gnomAD v4 |
1 | g.228158180T>G | CA345097807 | GJC2 | c.422T>G (p.Leu141Arg)
| |
1 | g.228158180T= | CA1225623888 | GJC2 | c.422T= (p.Leu141=)
| |