13 | g.20189286_20189292dup | CA2695217684 | GJB2 | c.292_298dup (p.His100ProfsTer4)
| |
13 | g.20189287_20189292delinsCGGG | CA2695217710 | GJB2 | c.290_295delinsCCCG (p.Tyr97SerfsTer4)
| |
13 | g.20189291G>A | CA6904289 | GJB2 | c.291C>T (p.Tyr97=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.20189291G>C | CA387461460 | GJB2 | c.291C>G (p.Tyr97Ter)
| gnomAD v4 |
13 | g.20189291G= | CA2077139659 | GJB2 | c.291C= (p.Tyr97=)
| |
13 | g.20189291G>T | CA387461461 | GJB2 | c.291C>A (p.Tyr97Ter)
| |
13 | g.20189292T>A | CA387461464 | GJB2 | c.290A>T (p.Tyr97Phe)
| |
13 | g.20189292T>C | CA387461462 | GJB2 | c.290A>G (p.Tyr97Cys)
| |
13 | g.20189292T>G | CA387461463 | GJB2 | c.290A>C (p.Tyr97Ser)
| |
13 | g.20189292dup | CA274000 | GJB2 | c.290dup (p.Tyr97Ter)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189293A= | CA2077139661 | GJB2 | c.289T= (p.Tyr97=)
| |
13 | g.20189293A>C | CA387461466 | GJB2 | c.289T>G (p.Tyr97Asp)
| |
13 | g.20189293A>G | CA387461465 | GJB2 | c.289T>C (p.Tyr97His)
| dbSNP gnomAD v3 gnomAD v4 |
13 | g.20189293A>T | CA387461467 | GJB2 | c.289T>A (p.Tyr97Asn)
| |
13 | g.20189293_20189294insATGCCCATTAATTATTATTGAGCCCATTATTATTAATAAGCCCATTAAGGGCTGAGAAATAGATTTCTTTCCTTTCCTTTTCTTTTTTATATGAAATTAAAT | CA2622252295 | GJB2 | c.288_289insATTTAATTTCATATAAAAAAGAAAAGGAAAGGAAAGAAATCTATTTCTCAGCCCTTAATGGGCTTATTAATAATAATGGGCTCAATAATAATTAATGGGCAT
| gnomAD v4 |
13 | g.20189294G>A | CA6904290 | GJB2 | c.288C>T (p.Ala96=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.20189294G>C | CA483153753 | GJB2 | c.288C>G (p.Ala96=)
| |
13 | g.20189294G= | CA2077139663 | GJB2 | c.288C= (p.Ala96=)
| |
13 | g.20189294G>T | CA483153752 | GJB2 | c.288C>A (p.Ala96=)
| |
13 | g.20189295G>A | CA387461468 | GJB2 | c.287C>T (p.Ala96Val)
| |
13 | g.20189295G>C | CA6904291 | GJB2 | c.287C>G (p.Ala96Gly)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189295G= | CA2077139666 | GJB2 | c.287C= (p.Ala96=)
| |
13 | g.20189295G>T | CA387461469 | GJB2 | c.287C>A (p.Ala96Asp)
| |
13 | g.20189296C>A | CA387461470 | GJB2 | c.286G>T (p.Ala96Ser)
| |
13 | g.20189296C>G | CA387461471 | GJB2 | c.286G>C (p.Ala96Pro)
| |
13 | g.20189296C>T | CA387461472 | GJB2 | c.286G>A (p.Ala96Thr)
| gnomAD v4 |
13 | g.20189297C>A | CA483153754 | GJB2 | c.285G>T (p.Val95=)
| |
13 | g.20189297C= | CA2077139668 | GJB2 | c.285G= (p.Val95=)
| |
13 | g.20189297C>G | CA483153756 | GJB2 | c.285G>C (p.Val95=)
| |
13 | g.20189297C>T | CA483153755 | GJB2 | c.285G>A (p.Val95=)
| |
13 | g.20189298A= | CA2077139671 | GJB2 | c.284T= (p.Val95=)
| |
13 | g.20189298A>C | CA387461473 | GJB2 | c.284T>G (p.Val95Gly)
| |
13 | g.20189298A>G | CA387461474 | GJB2 | c.284T>C (p.Val95Ala)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189298A>T | CA387461475 | GJB2 | c.284T>A (p.Val95Glu)
| dbSNP gnomAD v3 gnomAD v4 |
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=)
| |
13 | g.20189312T>C | CA483153764 | GJB2 | c.270A>G (p.Leu90=)
| dbSNP gnomAD v4 |
13 | g.20189312T>G | CA483153765 | GJB2 | c.270A>C (p.Leu90=)
| |
13 | g.20189312T= | CA2077139689 | GJB2 | c.270A= (p.Leu90=)
| |
13 | g.20189313del | CA2695217711 | GJB2 | c.269del (p.Leu90GlnfsTer22)
| |
13 | g.20189313A= | CA2077139698 | GJB2 | c.269T= (p.Leu90=)
| |
13 | g.20189313A>C | CA387461505 | GJB2 | c.269T>G (p.Leu90Arg)
| |
13 | g.20189313A>G | CA172219 | GJB2 | c.269T>C (p.Leu90Pro)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189313A>T | CA387461506 | GJB2 | c.269T>A (p.Leu90Gln)
| |
13 | g.20189313dup | CA273448 | GJB2 | c.269dup (p.Val91SerfsTer11)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189315_20189336del | CA2622252297 | GJB2 | c.248_269del (p.Phe83Ter)
| gnomAD v4 |
13 | g.20189314G>A | CA483153766 | GJB2 | c.268C>T (p.Leu90=)
| ClinVar dbSNP gnomAD v4 COSMIC |
13 | g.20189314G>C | CA387461507 | GJB2 | c.268C>G (p.Leu90Val)
| |
13 | g.20189314G= | CA2077139706 | GJB2 | c.268C= (p.Leu90=)
| |
13 | g.20189314G>T | CA387461508 | GJB2 | c.268C>A (p.Leu90Ile)
| |
13 | g.20189315del | CA2499221953 | GJB2 | c.268del (p.Leu90Ter)
| ClinVar dbSNP |
13 | g.20189315G>A | CA483153767 | GJB2 | c.267C>T (p.Leu89=)
| dbSNP gnomAD v4 |
13 | g.20189315G>C | CA176160 | GJB2 | c.267C>G (p.Leu89=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189315G= | CA2077139709 | GJB2 | c.267C= (p.Leu89=)
| |
13 | g.20189315G>T | CA483153768 | GJB2 | c.267C>A (p.Leu89=)
| ClinVar |
13 | g.20189316A= | CA2077139714 | GJB2 | c.266T= (p.Leu89=)
| |
13 | g.20189316A>C | CA387461509 | GJB2 | c.266T>G (p.Leu89Arg)
| |
13 | g.20189316A>G | CA387461510 | GJB2 | c.266T>C (p.Leu89Pro)
| ClinVar dbSNP |
13 | g.20189316A>T | CA387461511 | GJB2 | c.266T>A (p.Leu89His)
| dbSNP gnomAD v4 |
13 | g.20189317G>A | CA6904293 | GJB2 | c.265C>T (p.Leu89Phe)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.20189317G>C | CA387461512 | GJB2 | c.265C>G (p.Leu89Val)
| |
13 | g.20189317G= | CA2077139717 | GJB2 | c.265C= (p.Leu89=)
| |
13 | g.20189317G>T | CA387461513 | GJB2 | c.265C>A (p.Leu89Ile)
| |
13 | g.20189318C>A | CA483153769 | GJB2 | c.264G>T (p.Ala88=)
| |
13 | g.20189318C= | CA2077139720 | GJB2 | c.264G= (p.Ala88=)
| |
13 | g.20189318C>G | CA6904295 | GJB2 | c.264G>C (p.Ala88=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189318C>T | CA6904294 | GJB2 | c.264G>A (p.Ala88=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
13 | g.20189319G>A | CA387461514 | GJB2 | c.263C>T (p.Ala88Val)
| ClinVar dbSNP |
13 | g.20189319G>C | CA387461516 | GJB2 | c.263C>G (p.Ala88Gly)
| ClinVar dbSNP |
13 | g.20189319G= | CA2077139726 | GJB2 | c.263C= (p.Ala88=)
| |
13 | g.20189319G>T | CA387461515 | GJB2 | c.263C>A (p.Ala88Glu)
| ClinVar dbSNP |
13 | g.20189320C>A | CA387461517 | GJB2 | c.262G>T (p.Ala88Ser)
| gnomAD v4 |
13 | g.20189320C= | CA2077139729 | GJB2 | c.262G= (p.Ala88=)
| |
13 | g.20189320C>G | CA387461518 | GJB2 | c.262G>C (p.Ala88Pro)
| |
13 | g.20189320C>T | CA387461519 | GJB2 | c.262G>A (p.Ala88Thr)
| dbSNP gnomAD v3 gnomAD v4 |
13 | g.20189321T>A | CA483153770 | GJB2 | c.261A>T (p.Pro87=)
| |
13 | g.20189321T>C | CA483153771 | GJB2 | c.261A>G (p.Pro87=)
| |
13 | g.20189321T>G | CA483153772 | GJB2 | c.261A>C (p.Pro87=)
| |
13 | g.20189322G>A | CA387461520 | GJB2 | c.260C>T (p.Pro87Leu)
| ClinVar dbSNP |
13 | g.20189322G>C | CA387461521 | GJB2 | c.260C>G (p.Pro87Arg)
| |
13 | g.20189322G= | CA2077139733 | GJB2 | c.260C= (p.Pro87=)
| |
13 | g.20189322G>T | CA387461522 | GJB2 | c.260C>A (p.Pro87Gln)
| |
13 | g.20189323_20189325del | CA2695217712 | GJB2 | c.258_260del (p.Pro87del)
| |
13 | g.20189323G>A | CA387461523 | GJB2 | c.259C>T (p.Pro87Ser)
| |
13 | g.20189323G>C | CA387461524 | GJB2 | c.259C>G (p.Pro87Ala)
| |
13 | g.20189323G>T | CA387461525 | GJB2 | c.259C>A (p.Pro87Thr)
| |
13 | g.20189324_20189325del | CA912980096 | GJB2 | c.258_259del (p.Pro87SerfsTer14)
| |
13 | g.20189324C>A | CA246460540 | GJB2 | c.258G>T (p.Thr86=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
13 | g.20189324C= | CA2077139735 | GJB2 | c.258G= (p.Thr86=)
| |
13 | g.20189324C>G | CA483153773 | GJB2 | c.258G>C (p.Thr86=)
| |
13 | g.20189324C>T | CA6904296 | GJB2 | c.258G>A (p.Thr86=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189324_20189325delinsCG | CA2077139737 | GJB2 | c.257_258delinsCG (p.Thr86=)
| |
13 | g.20189325del | CA658823467 | GJB2 | c.257del (p.Thr86SerfsTer5)
| ClinVar dbSNP |
13 | g.20189325G>A | CA387461528 | GJB2 | c.257C>T (p.Thr86Met)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.20189325G>C | CA387461527 | GJB2 | c.257C>G (p.Thr86Arg)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.20189325G= | CA2077139745 | GJB2 | c.257C= (p.Thr86=)
| |
13 | g.20189325G>T | CA387461526 | GJB2 | c.257C>A (p.Thr86Lys)
| |
13 | g.20189326T>A | CA387461529 | GJB2 | c.256A>T (p.Thr86Ser)
| |
13 | g.20189326T>C | CA387461530 | GJB2 | c.256A>G (p.Thr86Ala)
| ClinVar |
13 | g.20189326T>G | CA387461531 | GJB2 | c.256A>C (p.Thr86Pro)
| |
13 | g.20189327G>A | CA483153774 | GJB2 | c.255C>T (p.Ser85=)
| ClinVar |
13 | g.20189327G>C | CA483153775 | GJB2 | c.255C>G (p.Ser85=)
| |
13 | g.20189327G>T | CA483153776 | GJB2 | c.255C>A (p.Ser85=)
| |
13 | g.20189328G>A | CA387461532 | GJB2 | c.254C>T (p.Ser85Phe)
| COSMIC |
13 | g.20189328G>C | CA387461533 | GJB2 | c.254C>G (p.Ser85Cys)
| |
13 | g.20189328G>T | CA387461534 | GJB2 | c.254C>A (p.Ser85Tyr)
| |
13 | g.20189329A>C | CA387461535 | GJB2 | c.253T>G (p.Ser85Ala)
| gnomAD v4 |
13 | g.20189329A>G | CA387461536 | GJB2 | c.253T>C (p.Ser85Pro)
| gnomAD v4 |
13 | g.20189329A>T | CA387461537 | GJB2 | c.253T>A (p.Ser85Thr)
| gnomAD v4 |
13 | g.20189330C>A | CA483153777 | GJB2 | c.252G>T (p.Val84=)
| |
13 | g.20189330C>G | CA483153778 | GJB2 | c.252G>C (p.Val84=)
| |
13 | g.20189330C>T | CA483153779 | GJB2 | c.252G>A (p.Val84=)
| ClinVar |
13 | g.20189331A>C | CA387461538 | GJB2 | c.251T>G (p.Val84Gly)
| |
13 | g.20189331A>G | CA387461539 | GJB2 | c.251T>C (p.Val84Ala)
| ClinVar gnomAD v4 |
13 | g.20189331A>T | CA387461540 | GJB2 | c.251T>A (p.Val84Glu)
| |
13 | g.20189332C>A | CA234087 | GJB2 | c.250G>T (p.Val84Leu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.20189332C= | CA2077139759 | GJB2 | c.250G= (p.Val84=)
| |
13 | g.20189332C>G | CA172218 | GJB2 | c.250G>C (p.Val84Leu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.20189332C>T | CA257683 | GJB2 | c.250G>A (p.Val84Met)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.20189333G>A | CA6904297 | GJB2 | c.249C>T (p.Phe83=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
13 | g.20189333G>C | CA134955 | GJB2 | c.249C>G (p.Phe83Leu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189333G= | CA2077139768 | GJB2 | c.249C= (p.Phe83=)
| |
13 | g.20189333G>T | CA387461541 | GJB2 | c.249C>A (p.Phe83Leu)
| |
13 | g.20189335_20189337del | CA2573053787 | GJB2 | c.247_249del (p.Phe83del)
| ClinVar dbSNP |
13 | g.20189334A>C | CA387461542 | GJB2 | c.248T>G (p.Phe83Cys)
| |
13 | g.20189334A>G | CA387461543 | GJB2 | c.248T>C (p.Phe83Ser)
| |
13 | g.20189334A>T | CA387461544 | GJB2 | c.248T>A (p.Phe83Tyr)
| |
13 | g.20189335A>C | CA387461545 | GJB2 | c.247T>G (p.Phe83Val)
| |
13 | g.20189335A>G | CA387461546 | GJB2 | c.247T>C (p.Phe83Leu)
| |
13 | g.20189335A>T | CA387461547 | GJB2 | c.247T>A (p.Phe83Ile)
| |
13 | g.20189336G>A | CA483153780 | GJB2 | c.246C>T (p.Ile82=)
| |
13 | g.20189336G>C | CA273919 | GJB2 | c.246C>G (p.Ile82Met)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189336G= | CA2077139777 | GJB2 | c.246C= (p.Ile82=)
| |
13 | g.20189336G>T | CA483153781 | GJB2 | c.246C>A (p.Ile82=)
| |
13 | g.20189337A>C | CA387461548 | GJB2 | c.245T>G (p.Ile82Ser)
| |
13 | g.20189337A>G | CA387461549 | GJB2 | c.245T>C (p.Ile82Thr)
| gnomAD v4 |
13 | g.20189337A>T | CA387461550 | GJB2 | c.245T>A (p.Ile82Asn)
| |
13 | g.20189338T>A | CA387461553 | GJB2 | c.244A>T (p.Ile82Phe)
| |
13 | g.20189338T>C | CA387461552 | GJB2 | c.244A>G (p.Ile82Val)
| ClinVar dbSNP |
13 | g.20189338T>G | CA387461551 | GJB2 | c.244A>C (p.Ile82Leu)
| |
13 | g.20189338T= | CA2077139782 | GJB2 | c.244A= (p.Ile82=)
| |
13 | g.20189339C>A | CA483153782 | GJB2 | c.243G>T (p.Leu81=)
| |
13 | g.20189339C= | CA2077139787 | GJB2 | c.243G= (p.Leu81=)
| |
13 | g.20189339C>G | CA483153783 | GJB2 | c.243G>C (p.Leu81=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189339C>T | CA483153784 | GJB2 | c.243G>A (p.Leu81=)
| ClinVar |
13 | g.20189340A= | CA2077139790 | GJB2 | c.242T= (p.Leu81=)
| |
13 | g.20189340A>C | CA387461554 | GJB2 | c.242T>G (p.Leu81Arg)
| |
13 | g.20189340A>G | CA387461555 | GJB2 | c.242T>C (p.Leu81Pro)
| dbSNP gnomAD v3 gnomAD v4 |
13 | g.20189340A>T | CA387461556 | GJB2 | c.242T>A (p.Leu81Gln)
| |
13 | g.20189341G>A | CA6904299 | GJB2 | c.241C>T (p.Leu81=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.20189341G>C | CA6904298 | GJB2 | c.241C>G (p.Leu81Val)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189341G= | CA2077139795 | GJB2 | c.241C= (p.Leu81=)
| |
13 | g.20189341G>T | CA387461557 | GJB2 | c.241C>A (p.Leu81Met)
| |
13 | g.20189342C>A | CA387461558 | GJB2 | c.240G>T (p.Gln80His)
| |
13 | g.20189342C= | CA2077139802 | GJB2 | c.240G= (p.Gln80=)
| |
13 | g.20189342C>G | CA387461559 | GJB2 | c.240G>C (p.Gln80His)
| |
13 | g.20189342C>T | CA483153785 | GJB2 | c.240G>A (p.Gln80=)
| |
13 | g.20189342dup | CA912980097 | GJB2 | c.240dup (p.Leu81AlafsTer21)
| |
13 | g.20189343T>A | CA387461560 | GJB2 | c.239A>T (p.Gln80Leu)
| |
13 | g.20189343T>C | CA387461561 | GJB2 | c.239A>G (p.Gln80Arg)
| ClinVar |
13 | g.20189343T>G | CA273446 | GJB2 | c.239A>C (p.Gln80Pro)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189343T= | CA2077139891 | GJB2 | c.239A= (p.Gln80=)
| |
13 | g.20189343dup | CA658823472 | GJB2 | c.239dup (p.Leu81AlafsTer21)
| ClinVar dbSNP gnomAD v4 |
13 | g.20189343_20189346delinsCGGATCT | CA2695217713 | GJB2 | c.236_239delinsAGATCCG (p.Leu79_Gln80delinsGlnIleArg)
| |
13 | g.20189344G>A | CA6904300 | GJB2 | c.238C>T (p.Gln80Ter)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189344G>C | CA387461562 | GJB2 | c.238C>G (p.Gln80Glu)
| |
13 | g.20189344G= | CA2077139898 | GJB2 | c.238C= (p.Gln80=)
| |
13 | g.20189344G>T | CA387461563 | GJB2 | c.238C>A (p.Gln80Lys)
| ClinVar dbSNP gnomAD v4 |
13 | g.20189345C>A | CA483153786 | GJB2 | c.237G>T (p.Leu79=)
| |
13 | g.20189345C>G | CA483153787 | GJB2 | c.237G>C (p.Leu79=)
| ClinVar |
13 | g.20189345C>T | CA483153788 | GJB2 | c.237G>A (p.Leu79=)
| gnomAD v4 COSMIC |
13 | g.20189346A= | CA2077139904 | GJB2 | c.236T= (p.Leu79=)
| |
13 | g.20189346A>C | CA387461565 | GJB2 | c.236T>G (p.Leu79Arg)
| dbSNP gnomAD v2 gnomAD v4 |
13 | g.20189346A>G | CA387461566 | GJB2 | c.236T>C (p.Leu79Pro)
| ClinVar dbSNP gnomAD v4 |
13 | g.20189346A>T | CA387461564 | GJB2 | c.236T>A (p.Leu79Gln)
| |
13 | g.20189346_20189347delinsAG | CA2077139903 | GJB2 | c.235_236delinsCT (p.Leu79=)
| |
13 | g.20189347G>A | CA483153789 | GJB2 | c.235C>T (p.Leu79=)
| |
13 | g.20189347G>C | CA387461568 | GJB2 | c.235C>G (p.Leu79Val)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189347G= | CA2077139914 | GJB2 | c.235C= (p.Leu79=)
| |
13 | g.20189347G>T | CA387461567 | GJB2 | c.235C>A (p.Leu79Met)
| |
13 | g.20189349dup | CA912980098 | GJB2 | c.235dup (p.Leu79ProfsTer23)
| |
13 | g.20189349del | CA127025 | GJB2 | c.235del (p.Leu79CysfsTer3)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
13 | g.20189348G>A | CA483153792 | GJB2 | c.234C>T (p.Ala78=)
| gnomAD v4 |
13 | g.20189348G>C | CA483153790 | GJB2 | c.234C>G (p.Ala78=)
| |
13 | g.20189348G>T | CA483153791 | GJB2 | c.234C>A (p.Ala78=)
| |
13 | g.20189349G>A | CA387461569 | GJB2 | c.233C>T (p.Ala78Val)
| dbSNP gnomAD v2 gnomAD v4 |
13 | g.20189349G>C | CA387461570 | GJB2 | c.233C>G (p.Ala78Gly)
| |
13 | g.20189349G= | CA2077139917 | GJB2 | c.233C= (p.Ala78=)
| |
13 | g.20189349G>T | CA387461571 | GJB2 | c.233C>A (p.Ala78Asp)
| ClinVar dbSNP |
13 | g.20189350C>A | CA387461572 | GJB2 | c.232G>T (p.Ala78Ser)
| ClinVar dbSNP gnomAD v4 |
13 | g.20189350C= | CA2077139924 | GJB2 | c.232G= (p.Ala78=)
| |
13 | g.20189350C>G | CA387461573 | GJB2 | c.232G>C (p.Ala78Pro)
| |
13 | g.20189350C>T | CA387461574 | GJB2 | c.232G>A (p.Ala78Thr)
| ClinVar dbSNP |
13 | g.20189352dup | CA658823475 | GJB2 | c.232dup (p.Ala78GlyfsTer24)
| ClinVar dbSNP |
13 | g.20189351C>A | CA387461575 | GJB2 | c.231G>T (p.Trp77Cys)
| |
13 | g.20189351C= | CA2077139933 | GJB2 | c.231G= (p.Trp77=)
| |
13 | g.20189351C>G | CA387461576 | GJB2 | c.231G>C (p.Trp77Cys)
| |
13 | g.20189351C>T | CA341437 | GJB2 | c.231G>A (p.Trp77Ter)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189352C>A | CA387461577 | GJB2 | c.230G>T (p.Trp77Leu)
| |
13 | g.20189352C= | CA2077139937 | GJB2 | c.230G= (p.Trp77=)
| |
13 | g.20189352C>G | CA387461578 | GJB2 | c.230G>C (p.Trp77Ser)
| |
13 | g.20189352C>T | CA274460 | GJB2 | c.230G>A (p.Trp77Ter)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.20189353A= | CA2077139941 | GJB2 | c.229T= (p.Trp77=)
| |
13 | g.20189353A>C | CA387461580 | GJB2 | c.229T>G (p.Trp77Gly)
| |
13 | g.20189353A>G | CA222246 | GJB2 | c.229T>C (p.Trp77Arg)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189353A>T | CA387461579 | GJB2 | c.229T>A (p.Trp77Arg)
| |
13 | g.20189354T>A | CA483153793 | GJB2 | c.228A>T (p.Leu76=)
| |
13 | g.20189354T>C | CA483153794 | GJB2 | c.228A>G (p.Leu76=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.20189354T>G | CA483153795 | GJB2 | c.228A>C (p.Leu76=)
| |
13 | g.20189354T= | CA2077139944 | GJB2 | c.228A= (p.Leu76=)
| |
13 | g.20189355A= | CA2077139948 | GJB2 | c.227T= (p.Leu76=)
| |
13 | g.20189355A>C | CA387461581 | GJB2 | c.227T>G (p.Leu76Arg)
| |
13 | g.20189355A>G | CA134953 | GJB2 | c.227T>C (p.Leu76Pro)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189355A>T | CA387461582 | GJB2 | c.227T>A (p.Leu76Gln)
| |
13 | g.20189356G>A | CA483153796 | GJB2 | c.226C>T (p.Leu76=)
| |
13 | g.20189356G>C | CA387461583 | GJB2 | c.226C>G (p.Leu76Val)
| ClinVar dbSNP |
13 | g.20189356G= | CA2077139952 | GJB2 | c.226C= (p.Leu76=)
| |
13 | g.20189356G>T | CA387461584 | GJB2 | c.226C>A (p.Leu76Ile)
| gnomAD v4 |
13 | g.20189357C>A | CA6904301 | GJB2 | c.225G>T (p.Arg75=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189357C= | CA2077139954 | GJB2 | c.225G= (p.Arg75=)
| |
13 | g.20189357C>G | CA483153798 | GJB2 | c.225G>C (p.Arg75=)
| |
13 | g.20189357C>T | CA483153797 | GJB2 | c.225G>A (p.Arg75=)
| |
13 | g.20189358C>A | CA387461585 | GJB2 | c.224G>T (p.Arg75Leu)
| |
13 | g.20189358C= | CA2077139956 | GJB2 | c.224G= (p.Arg75=)
| |
13 | g.20189358C>G | CA387461586 | GJB2 | c.224G>C (p.Arg75Pro)
| |
13 | g.20189358C>T | CA127030 | GJB2 | c.224G>A (p.Arg75Gln)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.20189359G>A | CA257676 | GJB2 | c.223C>T (p.Arg75Trp)
| ClinVar dbSNP |
13 | g.20189359G>C | CA387461587 | GJB2 | c.223C>G (p.Arg75Gly)
| ClinVar dbSNP |
13 | g.20189359G= | CA2077139961 | GJB2 | c.223C= (p.Arg75=)
| |
13 | g.20189359G>T | CA483153799 | GJB2 | c.223C>A (p.Arg75=)
| |
13 | g.20189360G>A | CA483153800 | GJB2 | c.222C>T (p.Ile74=)
| |
13 | g.20189360G>C | CA387461588 | GJB2 | c.222C>G (p.Ile74Met)
| |
13 | g.20189360G>T | CA483153801 | GJB2 | c.222C>A (p.Ile74=)
| |
13 | g.20189361A= | CA2077139966 | GJB2 | c.221T= (p.Ile74=)
| |
13 | g.20189361A>C | CA387461591 | GJB2 | c.221T>G (p.Ile74Ser)
| |
13 | g.20189361A>G | CA387461590 | GJB2 | c.221T>C (p.Ile74Thr)
| ClinVar dbSNP COSMIC |
13 | g.20189361A>T | CA387461589 | GJB2 | c.221T>A (p.Ile74Asn)
| |
13 | g.20189362T>A | CA387461592 | GJB2 | c.220A>T (p.Ile74Phe)
| |
13 | g.20189362T>C | CA387461593 | GJB2 | c.220A>G (p.Ile74Val)
| dbSNP gnomAD v3 gnomAD v4 |
13 | g.20189362T>G | CA387461594 | GJB2 | c.220A>C (p.Ile74Leu)
| |
13 | g.20189362T= | CA2077139968 | GJB2 | c.220A= (p.Ile74=)
| |
13 | g.20189363G>A | CA184094 | GJB2 | c.219C>T (p.His73=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.20189363G>C | CA387461595 | GJB2 | c.219C>G (p.His73Gln)
| |
13 | g.20189363G= | CA2077139972 | GJB2 | c.219C= (p.His73=)
| |
13 | g.20189363G>T | CA387461596 | GJB2 | c.219C>A (p.His73Gln)
| |
13 | g.20189364T>A | CA387461597 | GJB2 | c.218A>T (p.His73Leu)
| |
13 | g.20189364T>C | CA127036 | GJB2 | c.218A>G (p.His73Arg)
| ClinVar dbSNP |
13 | g.20189364T>G | CA387461598 | GJB2 | c.218A>C (p.His73Pro)
| |
13 | g.20189364T= | CA2077139977 | GJB2 | c.218A= (p.His73=)
| |
13 | g.20189364dup | CA2622252303 | GJB2 | c.218dup (p.His73GlnfsTer29)
| gnomAD v4 |
13 | g.20189365G>A | CA387461599 | GJB2 | c.217C>T (p.His73Tyr)
| dbSNP gnomAD v4 |
13 | g.20189365G>C | CA387461600 | GJB2 | c.217C>G (p.His73Asp)
| |
13 | g.20189365G= | CA2077139982 | GJB2 | c.217C= (p.His73=)
| |
13 | g.20189365G>T | CA387461601 | GJB2 | c.217C>A (p.His73Asn)
| gnomAD v4 |
13 | g.20189365_20189366insCTAT | CA608984145 | GJB2 | c.216_217insATAG (p.His73IlefsTer30)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189366G>A | CA483153802 | GJB2 | c.216C>T (p.Ser72=)
| |
13 | g.20189366G>C | CA483153803 | GJB2 | c.216C>G (p.Ser72=)
| |
13 | g.20189366G>T | CA483153804 | GJB2 | c.216C>A (p.Ser72=)
| |
13 | g.20189367G>A | CA387461604 | GJB2 | c.215C>T (p.Ser72Phe)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189367G>C | CA387461603 | GJB2 | c.215C>G (p.Ser72Cys)
| |
13 | g.20189367G= | CA2077139988 | GJB2 | c.215C= (p.Ser72=)
| |
13 | g.20189367G>T | CA387461602 | GJB2 | c.215C>A (p.Ser72Tyr)
| |
13 | g.20189368A>C | CA387461605 | GJB2 | c.214T>G (p.Ser72Ala)
| |
13 | g.20189368A>G | CA387461606 | GJB2 | c.214T>C (p.Ser72Pro)
| |
13 | g.20189368A>T | CA387461607 | GJB2 | c.214T>A (p.Ser72Thr)
| |
13 | g.20189369G>A | CA483153805 | GJB2 | c.213C>T (p.Ile71=)
| COSMIC |
13 | g.20189369G>C | CA387461608 | GJB2 | c.213C>G (p.Ile71Met)
| |
13 | g.20189369G>T | CA483153806 | GJB2 | c.213C>A (p.Ile71=)
| |
13 | g.20189370A= | CA2077139991 | GJB2 | c.212T= (p.Ile71=)
| |
13 | g.20189370A>C | CA387461609 | GJB2 | c.212T>G (p.Ile71Ser)
| |
13 | g.20189370A>G | CA387461610 | GJB2 | c.212T>C (p.Ile71Thr)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.20189370A>T | CA387461611 | GJB2 | c.212T>A (p.Ile71Asn)
| gnomAD v3 gnomAD v4 |
13 | g.20189371_20189377dup | CA2695217715 | GJB2 | c.206_212dup (p.Ser72ProfsTer32)
| ClinVar |
13 | g.20189371T>A | CA387461612 | GJB2 | c.211A>T (p.Ile71Phe)
| |
13 | g.20189371T>C | CA387461613 | GJB2 | c.211A>G (p.Ile71Val)
| |
13 | g.20189371T>G | CA387461614 | GJB2 | c.211A>C (p.Ile71Leu)
| |
13 | g.20189372G>A | CA483153807 | GJB2 | c.210C>T (p.Pro70=)
| gnomAD v4 |
13 | g.20189372G>C | CA483153808 | GJB2 | c.210C>G (p.Pro70=)
| |
13 | g.20189372G>T | CA483153809 | GJB2 | c.210C>A (p.Pro70=)
| |
13 | g.20189375del | CA2542172164 | GJB2 | c.210del (p.Ile71SerfsTer11)
| |
13 | g.20189373G>A | CA387461615 | GJB2 | c.209C>T (p.Pro70Leu)
| |
13 | g.20189373G>C | CA387461616 | GJB2 | c.209C>G (p.Pro70Arg)
| gnomAD v4 |
13 | g.20189373G>T | CA387461617 | GJB2 | c.209C>A (p.Pro70His)
| |
13 | g.20189373_20189374insCATGAGAATCGTTTGAACCTAGGAGGC | CA953781931 | GJB2 | c.208_209insGCCTCCTAGGTTCAAACGATTCTCATG (p.Pro70delinsArgLeuLeuGlySerAsnAspSerHisAla)
| gnomAD v3 gnomAD v4 |
13 | g.20189374G>A | CA387461619 | GJB2 | c.208C>T (p.Pro70Ser)
| COSMIC |
13 | g.20189374G>C | CA273831 | GJB2 | c.208C>G (p.Pro70Ala)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189374G= | CA2077139993 | GJB2 | c.208C= (p.Pro70=)
| |
13 | g.20189374G>T | CA387461618 | GJB2 | c.208C>A (p.Pro70Thr)
| |
13 | g.20189375G>A | CA483153810 | GJB2 | c.207C>T (p.Phe69=)
| ClinVar |
13 | g.20189375G>C | CA387461621 | GJB2 | c.207C>G (p.Phe69Leu)
| ClinVar |
13 | g.20189375G>T | CA387461620 | GJB2 | c.207C>A (p.Phe69Leu)
| |
13 | g.20189376A>C | CA387461624 | GJB2 | c.206T>G (p.Phe69Cys)
| |
13 | g.20189376A>G | CA387461622 | GJB2 | c.206T>C (p.Phe69Ser)
| ClinVar |
13 | g.20189376A>T | CA387461623 | GJB2 | c.206T>A (p.Phe69Tyr)
| |
13 | g.20189377A= | CA2077139995 | GJB2 | c.205T= (p.Phe69=)
| |
13 | g.20189377A>C | CA387461625 | GJB2 | c.205T>G (p.Phe69Val)
| |
13 | g.20189377A>G | CA387461626 | GJB2 | c.205T>C (p.Phe69Leu)
| ClinVar dbSNP |
13 | g.20189377A>T | CA387461627 | GJB2 | c.205T>A (p.Phe69Ile)
| |
13 | g.20189378G>A | CA483153811 | GJB2 | c.204C>T (p.Tyr68=)
| |
13 | g.20189378G>C | CA6904302 | GJB2 | c.204C>G (p.Tyr68Ter)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189378G= | CA2077139997 | GJB2 | c.204C= (p.Tyr68=)
| |
13 | g.20189378G>T | CA387461628 | GJB2 | c.204C>A (p.Tyr68Ter)
| gnomAD v4 |
13 | g.20189379T>A | CA387461629 | GJB2 | c.203A>T (p.Tyr68Phe)
| |
13 | g.20189379T>C | CA134951 | GJB2 | c.203A>G (p.Tyr68Cys)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189379T>G | CA387461630 | GJB2 | c.203A>C (p.Tyr68Ser)
| |
13 | g.20189379T= | CA2077140005 | GJB2 | c.203A= (p.Tyr68=)
| |
13 | g.20189380A>C | CA387461631 | GJB2 | c.202T>G (p.Tyr68Asp)
| |
13 | g.20189380A>G | CA387461632 | GJB2 | c.202T>C (p.Tyr68His)
| |
13 | g.20189380A>T | CA387461633 | GJB2 | c.202T>A (p.Tyr68Asn)
| |
13 | g.20189381G>A | CA483153819 | GJB2 | c.201C>T (p.His67=)
| dbSNP gnomAD v2 gnomAD v4 |
13 | g.20189381G>C | CA387461634 | GJB2 | c.201C>G (p.His67Gln)
| |
13 | g.20189381G= | CA2077140008 | GJB2 | c.201C= (p.His67=)
| |
13 | g.20189381G>T | CA387461635 | GJB2 | c.201C>A (p.His67Gln)
| |
13 | g.20189382T>A | CA387461636 | GJB2 | c.200A>T (p.His67Leu)
| gnomAD v4 |
13 | g.20189382T>C | CA6904303 | GJB2 | c.200A>G (p.His67Arg)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189382T>G | CA387461637 | GJB2 | c.200A>C (p.His67Pro)
| |
13 | g.20189382T= | CA2077140012 | GJB2 | c.200A= (p.His67=)
| |
13 | g.20189382dup | CA2499221954 | GJB2 | c.200dup (p.His67GlnfsTer?)
| ClinVar dbSNP gnomAD v4 |
13 | g.20189383G>A | CA387461638 | GJB2 | c.199C>T (p.His67Tyr)
| |
13 | g.20189383G>C | CA387461639 | GJB2 | c.199C>G (p.His67Asp)
| |
13 | g.20189383G>T | CA387461640 | GJB2 | c.199C>A (p.His67Asn)
| |
13 | g.20189384A= | CA2077140014 | GJB2 | c.198T= (p.Asp66=)
| |
13 | g.20189384A>C | CA387461641 | GJB2 | c.198T>G (p.Asp66Glu)
| |
13 | g.20189384A>G | CA483153820 | GJB2 | c.198T>C (p.Asp66=)
| dbSNP gnomAD v3 gnomAD v4 |
13 | g.20189384A>T | CA387461642 | GJB2 | c.198T>A (p.Asp66Glu)
| |
13 | g.20189385T>A | CA387461643 | GJB2 | c.197A>T (p.Asp66Val)
| |
13 | g.20189385T>C | CA387461644 | GJB2 | c.197A>G (p.Asp66Gly)
| |
13 | g.20189385T>G | CA387461645 | GJB2 | c.197A>C (p.Asp66Ala)
| |
13 | g.20189386C>A | CA387461647 | GJB2 | c.196G>T (p.Asp66Tyr)
| ClinVar dbSNP |
13 | g.20189386C= | CA2077140020 | GJB2 | c.196G= (p.Asp66=)
| |
13 | g.20189386C>G | CA127024 | GJB2 | c.196G>C (p.Asp66His)
| ClinVar dbSNP |
13 | g.20189386C>T | CA387461646 | GJB2 | c.196G>A (p.Asp66Asn)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189387G>A | CA6904304 | GJB2 | c.195C>T (p.Tyr65=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189387G>C | CA387461648 | GJB2 | c.195C>G (p.Tyr65Ter)
| ClinVar dbSNP gnomAD v4 |
13 | g.20189387G= | CA2077140027 | GJB2 | c.195C= (p.Tyr65=)
| |
13 | g.20189387G>T | CA387461649 | GJB2 | c.195C>A (p.Tyr65Ter)
| ClinVar dbSNP gnomAD v4 |
13 | g.20189388T>A | CA387461650 | GJB2 | c.194A>T (p.Tyr65Phe)
| |
13 | g.20189388T>C | CA261639 | GJB2 | c.194A>G (p.Tyr65Cys)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189388T>G | CA387461651 | GJB2 | c.194A>C (p.Tyr65Ser)
| |
13 | g.20189388T= | CA2077140033 | GJB2 | c.194A= (p.Tyr65=)
| |
13 | g.20189389A= | CA2077140037 | GJB2 | c.193T= (p.Tyr65=)
| |
13 | g.20189389A>C | CA387461652 | GJB2 | c.193T>G (p.Tyr65Asp)
| |
13 | g.20189389A>G | CA10586212 | GJB2 | c.193T>C (p.Tyr65His)
| ClinVar dbSNP |
13 | g.20189389A>T | CA387461653 | GJB2 | c.193T>A (p.Tyr65Asn)
| |
13 | g.20189390G>A | CA483153826 | GJB2 | c.192C>T (p.Cys64=)
| |
13 | g.20189390G>C | CA387461654 | GJB2 | c.192C>G (p.Cys64Trp)
| |
13 | g.20189390G>T | CA387461655 | GJB2 | c.192C>A (p.Cys64Ter)
| |
13 | g.20189390_20189406delinsGCACACGTTCTTGCAGC | CA2077140040 | GJB2 | c.176_192delinsGCTGCAAGAACGTGTGC (p.Gly59=)
| |
13 | g.20189391C>A | CA387461657 | GJB2 | c.191G>T (p.Cys64Phe)
| |
13 | g.20189391C>G | CA387461658 | GJB2 | c.191G>C (p.Cys64Ser)
| |
13 | g.20189391C>T | CA387461656 | GJB2 | c.191G>A (p.Cys64Tyr)
| ClinVar gnomAD v4 |
13 | g.20189392_20189407del | CA6904305 | GJB2 | c.176_191del (p.Gly59AlafsTer18)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |