Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.20189298_20189302dup | CA10575531 | GJB2 | c.280_284dup (p.Ala96ThrfsTer18) | ClinVar dbSNP |
13 | g.20189299C>A | CA387461477 | GJB2 | c.283G>T (p.Val95Leu) | |
13 | g.20189299C= | CA2077139672 | GJB2 | c.283G= (p.Val95=) | |
13 | g.20189299C>G | CA387461476 | GJB2 | c.283G>C (p.Val95Leu) | |
13 | g.20189299C>T | CA172220 | GJB2 | c.283G>A (p.Val95Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189300G>A | CA6904292 | GJB2 | c.282C>T (p.His94=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.20189300G>C | CA387461478 | GJB2 | c.282C>G (p.His94Gln) | dbSNP gnomAD v2 |
13 | g.20189300G= | CA2077139673 | GJB2 | c.282C= (p.His94=) | |
13 | g.20189300G>T | CA387461479 | GJB2 | c.282C>A (p.His94Gln) | |
13 | g.20189301T>A | CA134958 | GJB2 | c.281A>T (p.His94Leu) | ClinVar dbSNP COSMIC |
13 | g.20189301T>C | CA387461480 | GJB2 | c.281A>G (p.His94Arg) | |
13 | g.20189301T>G | CA387461481 | GJB2 | c.281A>C (p.His94Pro) | |
13 | g.20189301T= | CA2077139675 | GJB2 | c.281A= (p.His94=) | |
13 | g.20189302G>A | CA387461482 | GJB2 | c.280C>T (p.His94Tyr) | ClinVar dbSNP |
13 | g.20189302G>C | CA387461483 | GJB2 | c.280C>G (p.His94Asp) | |
13 | g.20189302G= | CA2077139677 | GJB2 | c.280C= (p.His94=) | |
13 | g.20189302G>T | CA387461484 | GJB2 | c.280C>A (p.His94Asn) | |
13 | g.20189303C>A | CA387461485 | GJB2 | c.279G>T (p.Met93Ile) | |
13 | g.20189303C= | CA2077139678 | GJB2 | c.279G= (p.Met93=) | |
13 | g.20189303C>G | CA387461486 | GJB2 | c.279G>C (p.Met93Ile) | gnomAD v4 COSMIC |
13 | g.20189303C>T | CA134957 | GJB2 | c.279G>A (p.Met93Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189304A= | CA2077139679 | GJB2 | c.278T= (p.Met93=) | |
13 | g.20189304A>C | CA387461489 | GJB2 | c.278T>G (p.Met93Arg) | |
13 | g.20189304A>G | CA387461488 | GJB2 | c.278T>C (p.Met93Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.20189304A>T | CA387461487 | GJB2 | c.278T>A (p.Met93Lys) | |
13 | g.20189305T>A | CA387461490 | GJB2 | c.277A>T (p.Met93Leu) | |
13 | g.20189305T>C | CA387461491 | GJB2 | c.277A>G (p.Met93Val) | ClinVar gnomAD v4 |
13 | g.20189305T>G | CA387461492 | GJB2 | c.277A>C (p.Met93Leu) | ClinVar |
13 | g.20189306G>A | CA483153757 | GJB2 | c.276C>T (p.Ala92=) | ClinVar dbSNP gnomAD v4 |
13 | g.20189306G>C | CA483153758 | GJB2 | c.276C>G (p.Ala92=) | |
13 | g.20189306G= | CA2077139681 | GJB2 | c.276C= (p.Ala92=) | |
13 | g.20189306G>T | CA483153759 | GJB2 | c.276C>A (p.Ala92=) | |
13 | g.20189307G>A | CA387461493 | GJB2 | c.275C>T (p.Ala92Val) | ClinVar dbSNP |
13 | g.20189307G>C | CA387461494 | GJB2 | c.275C>G (p.Ala92Gly) | dbSNP gnomAD v4 |
13 | g.20189307G= | CA2077139682 | GJB2 | c.275C= (p.Ala92=) | |
13 | g.20189307G>T | CA387461495 | GJB2 | c.275C>A (p.Ala92Asp) | |
13 | g.20189308C>A | CA387461496 | GJB2 | c.274G>T (p.Ala92Ser) | |
13 | g.20189308C>G | CA387461497 | GJB2 | c.274G>C (p.Ala92Pro) | |
13 | g.20189308C>T | CA387461498 | GJB2 | c.274G>A (p.Ala92Thr) | |
13 | g.20189309C>A | CA483153762 | GJB2 | c.273G>T (p.Val91=) | |
13 | g.20189309C>G | CA483153761 | GJB2 | c.273G>C (p.Val91=) | |
13 | g.20189309C>T | CA483153760 | GJB2 | c.273G>A (p.Val91=) | |
13 | g.20189310A>C | CA387461499 | GJB2 | c.272T>G (p.Val91Gly) | gnomAD v4 |
13 | g.20189310A>G | CA387461500 | GJB2 | c.272T>C (p.Val91Ala) | |
13 | g.20189310A>T | CA387461501 | GJB2 | c.272T>A (p.Val91Glu) | |
13 | g.20189311C>A | CA387461504 | GJB2 | c.271G>T (p.Val91Leu) | |
13 | g.20189311C= | CA2077139686 | GJB2 | c.271G= (p.Val91=) | |
13 | g.20189311C>G | CA387461503 | GJB2 | c.271G>C (p.Val91Leu) | gnomAD v4 |
13 | g.20189311C>T | CA387461502 | GJB2 | c.271G>A (p.Val91Met) | dbSNP gnomAD v3 gnomAD v4 |
13 | g.20189312T>A | CA483153763 | GJB2 | c.270A>T (p.Leu90=) |