Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.228158090_228158129del | CA2650853833 | GJC2 | c.332_371del (p.Arg111ProfsTer?) | gnomAD v4 |
1 | g.228158098_228158122del | CA732478079 | GJC2 | c.340_364del (p.Leu114AlafsTer?) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.228158118_228158155delinsACGCCGCGCGCCCCGAGCGCACCTGCCGCCCCCGCACG | CA1225623750 | GJC2 | c.360_397delinsACGCCGCGCGCCCCGAGCGCACCTGCCGCCCCCGCACG (p.Pro120=) | |
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=) |