X | g.71224163_71224164dup | CA2697553169 | GJB1 | c.456_457dup (p.Phe153SerfsTer?)
| ClinVar |
X | g.71224163_71224165delinsCTT | CA2436388383 | GJB1 | c.456_458delinsCTT (p.Val152=)
| |
X | g.71224164T>A | CA413502559 | GJB1 | c.457T>A (p.Phe153Ile)
| |
X | g.71224164T>C | CA413502560 | GJB1 | c.457T>C (p.Phe153Leu)
| |
X | g.71224164T>G | CA413502563 | GJB1 | c.457T>G (p.Phe153Val)
| |
X | g.71224166_71224167del | CA915951204 | GJB1 | c.459_460del (p.Phe153LeufsTer?)
| ClinVar dbSNP |
X | g.71224165T>A | CA413502566 | GJB1 | c.458T>A (p.Phe153Tyr)
| |
X | g.71224165T>C | CA413502565 | GJB1 | c.458T>C (p.Phe153Ser)
| ClinVar dbSNP |
X | g.71224165T>G | CA413502564 | GJB1 | c.458T>G (p.Phe153Cys)
| ClinVar dbSNP |
X | g.71224165T= | CA2436388384 | GJB1 | c.458T= (p.Phe153=)
| |
X | g.71224166T>A | CA413502569 | GJB1 | c.459T>A (p.Phe153Leu)
| |
X | g.71224166T>C | CA516820969 | GJB1 | c.459T>C (p.Phe153=)
| dbSNP |
X | g.71224166T>G | CA413502570 | GJB1 | c.459T>G (p.Phe153Leu)
| |
X | g.71224166T= | CA2436388385 | GJB1 | c.459T= (p.Phe153=)
| |
X | g.71224167T>A | CA413502572 | GJB1 | c.460T>A (p.Tyr154Asn)
| |
X | g.71224167T>C | CA413502575 | GJB1 | c.460T>C (p.Tyr154His)
| |
X | g.71224167T>G | CA413502578 | GJB1 | c.460T>G (p.Tyr154Asp)
| |
X | g.71224168_71224171dup | CA2499226845 | GJB1 | c.461_464dup (p.Leu156SerfsTer?)
| ClinVar dbSNP |
X | g.71224168A= | CA2436388386 | GJB1 | c.461A= (p.Tyr154=)
| |
X | g.71224168A>C | CA413502582 | GJB1 | c.461A>C (p.Tyr154Ser)
| |
X | g.71224168A>G | CA413502587 | GJB1 | c.461A>G (p.Tyr154Cys)
| ClinVar dbSNP |
X | g.71224168A>T | CA413502593 | GJB1 | c.461A>T (p.Tyr154Phe)
| |
X | g.71224169T>A | CA413502596 | GJB1 | c.462T>A (p.Tyr154Ter)
| ClinVar |
X | g.71224169T>C | CA516820973 | GJB1 | c.462T>C (p.Tyr154=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
X | g.71224169T>G | CA10584642 | GJB1 | c.462T>G (p.Tyr154Ter)
| ClinVar dbSNP |
X | g.71224169T= | CA2436388387 | GJB1 | c.462T= (p.Tyr154=)
| |
X | g.71224170C>A | CA10654378 | GJB1 | c.463C>A (p.Leu155Met)
| ClinVar dbSNP gnomAD v4 |
X | g.71224170C= | CA2436388388 | GJB1 | c.463C= (p.Leu155=)
| |
X | g.71224170C>G | CA413502606 | GJB1 | c.463C>G (p.Leu155Val)
| |
X | g.71224170C>T | CA516820975 | GJB1 | c.463C>T (p.Leu155=)
| |
X | g.71224173_71224182del | CA2695234567 | GJB1 | c.466_475del (p.Leu156AlafsTer?)
| |
X | g.71224171T>A | CA413502611 | GJB1 | c.464T>A (p.Leu155Gln)
| |
X | g.71224171T>C | CA413502615 | GJB1 | c.464T>C (p.Leu155Pro)
| |
X | g.71224171T>G | CA413502610 | GJB1 | c.464T>G (p.Leu155Arg)
| |
X | g.71224172G>A | CA516820979 | GJB1 | c.465G>A (p.Leu155=)
| |
X | g.71224172G>C | CA516820978 | GJB1 | c.465G>C (p.Leu155=)
| |
X | g.71224172G>T | CA516820977 | GJB1 | c.465G>T (p.Leu155=)
| |
X | g.71224172_71224174delinsGCT | CA2436388389 | GJB1 | c.465_467delinsGCT (p.Leu155=)
| |
X | g.71224173C>A | CA413502618 | GJB1 | c.466C>A (p.Leu156Ile)
| |
X | g.71224173C= | CA2436388390 | GJB1 | c.466C= (p.Leu156=)
| |
X | g.71224173C>G | CA413502621 | GJB1 | c.466C>G (p.Leu156Val)
| |
X | g.71224173C>T | CA413502625 | GJB1 | c.466C>T (p.Leu156Phe)
| ClinVar dbSNP |
X | g.71224175_71224176del | CA915951205 | GJB1 | c.468_469del (p.Tyr157ProfsTer?)
| ClinVar dbSNP |
X | g.71224174T>A | CA413502628 | GJB1 | c.467T>A (p.Leu156His)
| ClinVar dbSNP |
X | g.71224174T>C | CA413502630 | GJB1 | c.467T>C (p.Leu156Pro)
| |
X | g.71224174T>G | CA255245 | GJB1 | c.467T>G (p.Leu156Arg)
| ClinVar dbSNP |
X | g.71224174T= | CA2436388391 | GJB1 | c.467T= (p.Leu156=)
| |
X | g.71224175C>A | CA516820983 | GJB1 | c.468C>A (p.Leu156=)
| |
X | g.71224175C>G | CA516820984 | GJB1 | c.468C>G (p.Leu156=)
| gnomAD v4 |
X | g.71224175C>T | CA516820985 | GJB1 | c.468C>T (p.Leu156=)
| |
X | g.71224176T>A | CA413502639 | GJB1 | c.469T>A (p.Tyr157Asn)
| |
X | g.71224176T>C | CA413502635 | GJB1 | c.469T>C (p.Tyr157His)
| |
X | g.71224176T>G | CA413502637 | GJB1 | c.469T>G (p.Tyr157Asp)
| |
X | g.71224177A= | CA2436388392 | GJB1 | c.470A= (p.Tyr157=)
| |
X | g.71224177A>C | CA413502640 | GJB1 | c.470A>C (p.Tyr157Ser)
| |
X | g.71224177A>G | CA413502643 | GJB1 | c.470A>G (p.Tyr157Cys)
| ClinVar dbSNP |
X | g.71224177A>T | CA413502645 | GJB1 | c.470A>T (p.Tyr157Phe)
| |
X | g.71224178C>A | CA413502648 | GJB1 | c.471C>A (p.Tyr157Ter)
| |
X | g.71224178C>G | CA413502654 | GJB1 | c.471C>G (p.Tyr157Ter)
| |
X | g.71224178C>T | CA516820991 | GJB1 | c.471C>T (p.Tyr157=)
| gnomAD v4 |
X | g.71224179C>A | CA413502657 | GJB1 | c.472C>A (p.Pro158Thr)
| |
X | g.71224179C= | CA2436388393 | GJB1 | c.472C= (p.Pro158=)
| |
X | g.71224179C>G | CA413502661 | GJB1 | c.472C>G (p.Pro158Ala)
| ClinVar dbSNP |
X | g.71224179C>T | CA413502659 | GJB1 | c.472C>T (p.Pro158Ser)
| ClinVar dbSNP |
X | g.71224180C>A | CA413502665 | GJB1 | c.473C>A (p.Pro158His)
| gnomAD v4 |
X | g.71224180C= | CA2436388394 | GJB1 | c.473C= (p.Pro158=)
| |
X | g.71224180C>G | CA413502668 | GJB1 | c.473C>G (p.Pro158Arg)
| ClinVar dbSNP |
X | g.71224180C>T | CA413502670 | GJB1 | c.473C>T (p.Pro158Leu)
| ClinVar dbSNP |
X | g.71224180_71224181delinsCT | CA2436388395 | GJB1 | c.473_474delinsCT (p.Pro158=)
| |
X | g.71224181del | CA915951206 | GJB1 | c.474del (p.Gly159AlafsTer?)
| ClinVar dbSNP |
X | g.71224181T>A | CA516820995 | GJB1 | c.474T>A (p.Pro158=)
| |
X | g.71224181T>C | CA516820996 | GJB1 | c.474T>C (p.Pro158=)
| dbSNP |
X | g.71224181T>G | CA516820998 | GJB1 | c.474T>G (p.Pro158=)
| |
X | g.71224181T= | CA2436388396 | GJB1 | c.474T= (p.Pro158=)
| |
X | g.71224183_71224188del | CA2695234568 | GJB1 | c.476_481del (p.Gly159_Tyr160del)
| |
X | g.71224182G>A | CA413502674 | GJB1 | c.475G>A (p.Gly159Ser)
| ClinVar dbSNP |
X | g.71224182G>C | CA413502677 | GJB1 | c.475G>C (p.Gly159Arg)
| |
X | g.71224182G= | CA2436388397 | GJB1 | c.475G= (p.Gly159=)
| |
X | g.71224182G>T | CA413502679 | GJB1 | c.475G>T (p.Gly159Cys)
| |
X | g.71224183G>A | CA413502681 | GJB1 | c.476G>A (p.Gly159Asp)
| ClinVar dbSNP |
X | g.71224183G>C | CA413502682 | GJB1 | c.476G>C (p.Gly159Ala)
| |
X | g.71224183G= | CA2436388398 | GJB1 | c.476G= (p.Gly159=)
| |
X | g.71224183G>T | CA413502685 | GJB1 | c.476G>T (p.Gly159Val)
| |
X | g.71224184C>A | CA516821008 | GJB1 | c.477C>A (p.Gly159=)
| COSMIC |
X | g.71224184C>G | CA516821011 | GJB1 | c.477C>G (p.Gly159=)
| |
X | g.71224184C>T | CA516821013 | GJB1 | c.477C>T (p.Gly159=)
| gnomAD v4 |
X | g.71224185T>A | CA413502687 | GJB1 | c.478T>A (p.Tyr160Asn)
| |
X | g.71224185T>C | CA413502688 | GJB1 | c.478T>C (p.Tyr160His)
| ClinVar dbSNP |
X | g.71224185T>G | CA413502690 | GJB1 | c.478T>G (p.Tyr160Asp)
| |
X | g.71224185T= | CA2436388399 | GJB1 | c.478T= (p.Tyr160=)
| |
X | g.71224186A= | CA2436388400 | GJB1 | c.479A= (p.Tyr160=)
| |
X | g.71224186A>C | CA413502692 | GJB1 | c.479A>C (p.Tyr160Ser)
| |
X | g.71224186A>G | CA413502696 | GJB1 | c.479A>G (p.Tyr160Cys)
| ClinVar dbSNP |
X | g.71224186A>T | CA413502694 | GJB1 | c.479A>T (p.Tyr160Phe)
| |
X | g.71224187T>A | CA413502699 | GJB1 | c.480T>A (p.Tyr160Ter)
| |
X | g.71224187T>C | CA516821019 | GJB1 | c.480T>C (p.Tyr160=)
| ClinVar |
X | g.71224187T>G | CA413502702 | GJB1 | c.480T>G (p.Tyr160Ter)
| |
X | g.71224188G>A | CA413502704 | GJB1 | c.481G>A (p.Ala161Thr)
| |
X | g.71224188G>C | CA413502707 | GJB1 | c.481G>C (p.Ala161Pro)
| ClinVar dbSNP |
X | g.71224188G= | CA2436388401 | GJB1 | c.481G= (p.Ala161=)
| |
X | g.71224188G>T | CA413502710 | GJB1 | c.481G>T (p.Ala161Ser)
| |
X | g.71224189C>A | CA413502716 | GJB1 | c.482C>A (p.Ala161Asp)
| ClinVar dbSNP |
X | g.71224189C= | CA2436388402 | GJB1 | c.482C= (p.Ala161=)
| |
X | g.71224189C>G | CA413502714 | GJB1 | c.482C>G (p.Ala161Gly)
| |
X | g.71224189C>T | CA413502712 | GJB1 | c.482C>T (p.Ala161Val)
| |
X | g.71224190C>A | CA516821021 | GJB1 | c.483C>A (p.Ala161=)
| |
X | g.71224190C= | CA2436388403 | GJB1 | c.483C= (p.Ala161=)
| |
X | g.71224190C>G | CA516821022 | GJB1 | c.483C>G (p.Ala161=)
| |
X | g.71224190C>T | CA516821023 | GJB1 | c.483C>T (p.Ala161=)
| ClinVar dbSNP |
X | g.71224191del | CA2573159493 | GJB1 | c.484del (p.Met162TrpfsTer?)
| ClinVar dbSNP |
X | g.71224191A>C | CA413502717 | GJB1 | c.484A>C (p.Met162Leu)
| |
X | g.71224191A>G | CA413502719 | GJB1 | c.484A>G (p.Met162Val)
| |
X | g.71224191A>T | CA413502721 | GJB1 | c.484A>T (p.Met162Leu)
| |
X | g.71224191dup | CA915951207 | GJB1 | c.484dup (p.Met162AsnfsTer?)
| ClinVar dbSNP |
X | g.71224192T>A | CA413502725 | GJB1 | c.485T>A (p.Met162Lys)
| |
X | g.71224192T>C | CA413502727 | GJB1 | c.485T>C (p.Met162Thr)
| gnomAD v4 |
X | g.71224192T>G | CA413502729 | GJB1 | c.485T>G (p.Met162Arg)
| |
X | g.71224193G>A | CA413502732 | GJB1 | c.486G>A (p.Met162Ile)
| |
X | g.71224193G>C | CA413502735 | GJB1 | c.486G>C (p.Met162Ile)
| |
X | g.71224193G>T | CA413502733 | GJB1 | c.486G>T (p.Met162Ile)
| gnomAD v4 |
X | g.71224194G>A | CA413502738 | GJB1 | c.487G>A (p.Val163Met)
| |
X | g.71224194G>C | CA413502740 | GJB1 | c.487G>C (p.Val163Leu)
| |
X | g.71224194G>T | CA413502743 | GJB1 | c.487G>T (p.Val163Leu)
| |
X | g.71224195T>A | CA413502745 | GJB1 | c.488T>A (p.Val163Glu)
| |
X | g.71224195T>C | CA413502747 | GJB1 | c.488T>C (p.Val163Ala)
| |
X | g.71224195T>G | CA413502749 | GJB1 | c.488T>G (p.Val163Gly)
| |
X | g.71224196G>A | CA516821028 | GJB1 | c.489G>A (p.Val163=)
| ClinVar |
X | g.71224196G>C | CA516821029 | GJB1 | c.489G>C (p.Val163=)
| |
X | g.71224196G>T | CA516821030 | GJB1 | c.489G>T (p.Val163=)
| |
X | g.71224197C>A | CA516821032 | GJB1 | c.490C>A (p.Arg164=)
| |
X | g.71224197C= | CA2436388404 | GJB1 | c.490C= (p.Arg164=)
| |
X | g.71224197C>G | CA413502754 | GJB1 | c.490C>G (p.Arg164Gly)
| ClinVar dbSNP |
X | g.71224197C>T | CA277620 | GJB1 | c.490C>T (p.Arg164Trp)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
X | g.71224198G>A | CA413502758 | GJB1 | c.491G>A (p.Arg164Gln)
| ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
X | g.71224198G>C | CA413502759 | GJB1 | c.491G>C (p.Arg164Pro)
| |
X | g.71224198G= | CA2436388405 | GJB1 | c.491G= (p.Arg164=)
| |
X | g.71224198G>T | CA413502762 | GJB1 | c.491G>T (p.Arg164Leu)
| ClinVar dbSNP |
X | g.71224199G>A | CA516821039 | GJB1 | c.492G>A (p.Arg164=)
| |
X | g.71224199G>C | CA516821041 | GJB1 | c.492G>C (p.Arg164=)
| |
X | g.71224199G>T | CA516821040 | GJB1 | c.492G>T (p.Arg164=)
| |
X | g.71224200C>A | CA413502770 | GJB1 | c.493C>A (p.Leu165Met)
| |
X | g.71224200C>G | CA413502768 | GJB1 | c.493C>G (p.Leu165Val)
| ClinVar dbSNP gnomAD v4 |
X | g.71224200C>T | CA516821043 | GJB1 | c.493C>T (p.Leu165=)
| COSMIC |
X | g.71224201T>A | CA413502774 | GJB1 | c.494T>A (p.Leu165Gln)
| ClinVar dbSNP |
X | g.71224201T>C | CA413502778 | GJB1 | c.494T>C (p.Leu165Pro)
| ClinVar dbSNP |
X | g.71224201T>G | CA413502775 | GJB1 | c.494T>G (p.Leu165Arg)
| |
X | g.71224201T= | CA2436388406 | GJB1 | c.494T= (p.Leu165=)
| |
X | g.71224202G>A | CA516821049 | GJB1 | c.495G>A (p.Leu165=)
| |
X | g.71224202G>C | CA516821051 | GJB1 | c.495G>C (p.Leu165=)
| |
X | g.71224202G>T | CA516821052 | GJB1 | c.495G>T (p.Leu165=)
| |
X | g.71224202_71224207delinsGGTCAA | CA2436388407 | GJB1 | c.495_500delinsGGTCAA (p.Leu165=)
| |
X | g.71224203G>A | CA413502782 | GJB1 | c.496G>A (p.Val166Ile)
| |
X | g.71224203G>C | CA413502785 | GJB1 | c.496G>C (p.Val166Leu)
| gnomAD v4 |
X | g.71224203G>T | CA413502789 | GJB1 | c.496G>T (p.Val166Phe)
| |
X | g.71224205_71224209del | CA915951208 | GJB1 | c.498_502del (p.Lys167ArgfsTer?)
| ClinVar dbSNP |
X | g.71224204T>A | CA413502791 | GJB1 | c.497T>A (p.Val166Asp)
| |
X | g.71224204T>C | CA413502793 | GJB1 | c.497T>C (p.Val166Ala)
| |
X | g.71224204T>G | CA10445305 | GJB1 | c.497T>G (p.Val166Gly)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.71224204T= | CA2436388408 | GJB1 | c.497T= (p.Val166=)
| |
X | g.71224205C>A | CA516821055 | GJB1 | c.498C>A (p.Val166=)
| |
X | g.71224205C>G | CA516821057 | GJB1 | c.498C>G (p.Val166=)
| |
X | g.71224205C>T | CA516821058 | GJB1 | c.498C>T (p.Val166=)
| |
X | g.71224206A= | CA2436388409 | GJB1 | c.499A= (p.Lys167=)
| |
X | g.71224206A>C | CA413502802 | GJB1 | c.499A>C (p.Lys167Gln)
| |
X | g.71224206A>G | CA413502800 | GJB1 | c.499A>G (p.Lys167Glu)
| ClinVar dbSNP |
X | g.71224206A>T | CA413502797 | GJB1 | c.499A>T (p.Lys167Ter)
| |
X | g.71224207A= | CA2436388410 | GJB1 | c.500A= (p.Lys167=)
| |
X | g.71224207A>C | CA413502805 | GJB1 | c.500A>C (p.Lys167Thr)
| |
X | g.71224207A>G | CA413502807 | GJB1 | c.500A>G (p.Lys167Arg)
| |
X | g.71224207A>T | CA413502810 | GJB1 | c.500A>T (p.Lys167Met)
| dbSNP |
X | g.71224208G>A | CA10445306 | GJB1 | c.501G>A (p.Lys167=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.71224208G>C | CA413502814 | GJB1 | c.501G>C (p.Lys167Asn)
| |
X | g.71224208G= | CA2436388411 | GJB1 | c.501G= (p.Lys167=)
| |
X | g.71224208G>T | CA413502816 | GJB1 | c.501G>T (p.Lys167Asn)
| ClinVar dbSNP |
X | g.71224209T>A | CA413502818 | GJB1 | c.502T>A (p.Cys168Ser)
| ClinVar dbSNP |
X | g.71224209T>C | CA413502821 | GJB1 | c.502T>C (p.Cys168Arg)
| ClinVar dbSNP |
X | g.71224209T>G | CA16043600 | GJB1 | c.502T>G (p.Cys168Gly)
| ClinVar dbSNP |
X | g.71224209T= | CA2436388412 | GJB1 | c.502T= (p.Cys168=)
| |
X | g.71224210G>A | CA413502825 | GJB1 | c.503G>A (p.Cys168Tyr)
| ClinVar dbSNP |
X | g.71224210G>C | CA413502828 | GJB1 | c.503G>C (p.Cys168Ser)
| |
X | g.71224210G= | CA2436388413 | GJB1 | c.503G= (p.Cys168=)
| |
X | g.71224210G>T | CA413502830 | GJB1 | c.503G>T (p.Cys168Phe)
| gnomAD v4 |
X | g.71224211C>A | CA413502833 | GJB1 | c.504C>A (p.Cys168Ter)
| ClinVar dbSNP |
X | g.71224211C= | CA2436388414 | GJB1 | c.504C= (p.Cys168=)
| |
X | g.71224211C>G | CA413502836 | GJB1 | c.504C>G (p.Cys168Trp)
| gnomAD v4 |
X | g.71224211C>T | CA10445307 | GJB1 | c.504C>T (p.Cys168=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.71224212G>A | CA10445308 | GJB1 | c.505G>A (p.Asp169Asn)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.71224212G>C | CA413502842 | GJB1 | c.505G>C (p.Asp169His)
| |
X | g.71224212G= | CA2436388415 | GJB1 | c.505G= (p.Asp169=)
| |
X | g.71224212G>T | CA413502844 | GJB1 | c.505G>T (p.Asp169Tyr)
| gnomAD v4 |
X | g.71224213A= | CA2436388416 | GJB1 | c.506A= (p.Asp169=)
| |
X | g.71224213A>C | CA413502848 | GJB1 | c.506A>C (p.Asp169Ala)
| |
X | g.71224213A>G | CA413502850 | GJB1 | c.506A>G (p.Asp169Gly)
| |
X | g.71224213A>T | CA413502853 | GJB1 | c.506A>T (p.Asp169Val)
| |
X | g.71224214del | CA2697553170 | GJB1 | c.507del (p.Asp169GlufsTer27)
| ClinVar |
X | g.71224214C>A | CA413502856 | GJB1 | c.507C>A (p.Asp169Glu)
| dbSNP gnomAD v4 |
X | g.71224214C= | CA2436388417 | GJB1 | c.507C= (p.Asp169=)
| |
X | g.71224214C>G | CA413502860 | GJB1 | c.507C>G (p.Asp169Glu)
| |
X | g.71224214C>T | CA10445309 | GJB1 | c.507C>T (p.Asp169=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
X | g.71224215_71224258dup | CA1139667646 | GJB1 | c.508_551dup (p.Thr185SerfsTer26)
| ClinVar dbSNP |
X | g.71224215G>A | CA10445310 | GJB1 | c.508G>A (p.Val170Ile)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.71224215G>C | CA413502865 | GJB1 | c.508G>C (p.Val170Leu)
| |
X | g.71224215G= | CA2436388418 | GJB1 | c.508G= (p.Val170=)
| |
X | g.71224215G>T | CA413502868 | GJB1 | c.508G>T (p.Val170Phe)
| ClinVar dbSNP |
X | g.71224216T>A | CA413502871 | GJB1 | c.509T>A (p.Val170Asp)
| ClinVar dbSNP |
X | g.71224216T>C | CA413502874 | GJB1 | c.509T>C (p.Val170Ala)
| dbSNP |
X | g.71224216T>G | CA413502878 | GJB1 | c.509T>G (p.Val170Gly)
| ClinVar dbSNP |
X | g.71224216T= | CA2436388419 | GJB1 | c.509T= (p.Val170=)
| |
X | g.71224217C>A | CA516821070 | GJB1 | c.510C>A (p.Val170=)
| |
X | g.71224217C= | CA2436388420 | GJB1 | c.510C= (p.Val170=)
| |
X | g.71224217C>G | CA10445311 | GJB1 | c.510C>G (p.Val170=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.71224217C>T | CA516821072 | GJB1 | c.510C>T (p.Val170=)
| |
X | g.71224218T>A | CA413502881 | GJB1 | c.511T>A (p.Tyr171Asn)
| |
X | g.71224218T>C | CA413502884 | GJB1 | c.511T>C (p.Tyr171His)
| |
X | g.71224218T>G | CA413502887 | GJB1 | c.511T>G (p.Tyr171Asp)
| |
X | g.71224219A= | CA2436388421 | GJB1 | c.512A= (p.Tyr171=)
| |
X | g.71224219A>C | CA413502891 | GJB1 | c.512A>C (p.Tyr171Ser)
| |
X | g.71224219A>G | CA10445312 | GJB1 | c.512A>G (p.Tyr171Cys)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.71224219A>T | CA413502894 | GJB1 | c.512A>T (p.Tyr171Phe)
| dbSNP |
X | g.71224220C>A | CA413502896 | GJB1 | c.513C>A (p.Tyr171Ter)
| gnomAD v4 |
X | g.71224220C= | CA2436388422 | GJB1 | c.513C= (p.Tyr171=)
| |
X | g.71224220C>G | CA413502899 | GJB1 | c.513C>G (p.Tyr171Ter)
| ClinVar dbSNP |
X | g.71224220C>T | CA516821077 | GJB1 | c.513C>T (p.Tyr171=)
| |
X | g.71224221C>A | CA413502902 | GJB1 | c.514C>A (p.Pro172Thr)
| |
X | g.71224221C= | CA2436388423 | GJB1 | c.514C= (p.Pro172=)
| |
X | g.71224221C>G | CA413502905 | GJB1 | c.514C>G (p.Pro172Ala)
| ClinVar dbSNP |
X | g.71224221C>T | CA255232 | GJB1 | c.514C>T (p.Pro172Ser)
| ClinVar dbSNP ExAC gnomAD v2 |
X | g.71224222C>A | CA413502909 | GJB1 | c.515C>A (p.Pro172His)
| |
X | g.71224222C= | CA2436388424 | GJB1 | c.515C= (p.Pro172=)
| |
X | g.71224222C>G | CA413502912 | GJB1 | c.515C>G (p.Pro172Arg)
| ClinVar dbSNP |
X | g.71224222C>T | CA413502914 | GJB1 | c.515C>T (p.Pro172Leu)
| ClinVar dbSNP |
X | g.71224223C>A | CA516821081 | GJB1 | c.516C>A (p.Pro172=)
| |
X | g.71224223C>G | CA516821083 | GJB1 | c.516C>G (p.Pro172=)
| |
X | g.71224223C>T | CA516821085 | GJB1 | c.516C>T (p.Pro172=)
| |
X | g.71224224T>A | CA413502918 | GJB1 | c.517T>A (p.Cys173Ser)
| |
X | g.71224224T>C | CA413502920 | GJB1 | c.517T>C (p.Cys173Arg)
| ClinVar dbSNP gnomAD v4 |
X | g.71224224T>G | CA413502922 | GJB1 | c.517T>G (p.Cys173Gly)
| |
X | g.71224224T= | CA2436388425 | GJB1 | c.517T= (p.Cys173=)
| |
X | g.71224225G>A | CA413502925 | GJB1 | c.518G>A (p.Cys173Tyr)
| |
X | g.71224225G>C | CA413502926 | GJB1 | c.518G>C (p.Cys173Ser)
| |
X | g.71224225G= | CA2436388426 | GJB1 | c.518G= (p.Cys173=)
| |
X | g.71224225G>T | CA413502928 | GJB1 | c.518G>T (p.Cys173Phe)
| ClinVar dbSNP |
X | g.71224226C>A | CA413502931 | GJB1 | c.519C>A (p.Cys173Ter)
| ClinVar dbSNP |
X | g.71224226C= | CA2436388427 | GJB1 | c.519C= (p.Cys173=)
| |
X | g.71224226C>G | CA413502934 | GJB1 | c.519C>G (p.Cys173Trp)
| |
X | g.71224226C>T | CA516821091 | GJB1 | c.519C>T (p.Cys173=)
| ClinVar dbSNP |
X | g.71224227C>A | CA413502938 | GJB1 | c.520C>A (p.Pro174Thr)
| |
X | g.71224227C>G | CA413502943 | GJB1 | c.520C>G (p.Pro174Ala)
| ClinVar dbSNP |
X | g.71224227C>T | CA413502940 | GJB1 | c.520C>T (p.Pro174Ser)
| |
X | g.71224228C>A | CA413502947 | GJB1 | c.521C>A (p.Pro174His)
| |
X | g.71224228C= | CA2436388428 | GJB1 | c.521C= (p.Pro174=)
| |
X | g.71224228C>G | CA413502950 | GJB1 | c.521C>G (p.Pro174Arg)
| ClinVar dbSNP |
X | g.71224228C>T | CA413502952 | GJB1 | c.521C>T (p.Pro174Leu)
| ClinVar dbSNP |
X | g.71224229C>A | CA516821095 | GJB1 | c.522C>A (p.Pro174=)
| |
X | g.71224229C= | CA2436388429 | GJB1 | c.522C= (p.Pro174=)
| |
X | g.71224229C>G | CA516821099 | GJB1 | c.522C>G (p.Pro174=)
| |
X | g.71224229C>T | CA516821096 | GJB1 | c.522C>T (p.Pro174=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.71224230A= | CA2436388430 | GJB1 | c.523A= (p.Asn175=)
| |
X | g.71224230A>C | CA413502955 | GJB1 | c.523A>C (p.Asn175His)
| |
X | g.71224230A>G | CA413502958 | GJB1 | c.523A>G (p.Asn175Asp)
| ClinVar dbSNP |
X | g.71224230A>T | CA413502960 | GJB1 | c.523A>T (p.Asn175Tyr)
| |
X | g.71224231dup | CA891844221 | GJB1 | c.524dup (p.Asn175LysfsTer?)
| ClinVar dbSNP |
X | g.71224231A= | CA2436388431 | GJB1 | c.524A= (p.Asn175=)
| |
X | g.71224231A>C | CA413502962 | GJB1 | c.524A>C (p.Asn175Thr)
| |
X | g.71224231A>G | CA413502965 | GJB1 | c.524A>G (p.Asn175Ser)
| ClinVar dbSNP |
X | g.71224231A>T | CA413502967 | GJB1 | c.524A>T (p.Asn175Ile)
| |
X | g.71224232C>A | CA413502968 | GJB1 | c.525C>A (p.Asn175Lys)
| gnomAD v4 |
X | g.71224232C>G | CA413502977 | GJB1 | c.525C>G (p.Asn175Lys)
| |
X | g.71224232C>T | CA516821102 | GJB1 | c.525C>T (p.Asn175=)
| |
X | g.71224233_71224262dup | CA16621492 | GJB1 | c.526_555dup (p.Thr185_Glu186insThrValAspCysPheValSerArgProThr)
| ClinVar dbSNP |
X | g.71224233A>C | CA413502986 | GJB1 | c.526A>C (p.Thr176Pro)
| ClinVar gnomAD v4 |
X | g.71224233A>G | CA413502983 | GJB1 | c.526A>G (p.Thr176Ala)
| ClinVar |
X | g.71224233A>T | CA413502980 | GJB1 | c.526A>T (p.Thr176Ser)
| |
X | g.71224234C>A | CA413502989 | GJB1 | c.527C>A (p.Thr176Lys)
| |
X | g.71224234C= | CA2436388432 | GJB1 | c.527C= (p.Thr176=)
| |
X | g.71224234C>G | CA413502991 | GJB1 | c.527C>G (p.Thr176Arg)
| |
X | g.71224234C>T | CA413502993 | GJB1 | c.527C>T (p.Thr176Ile)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.71224235A= | CA2436388433 | GJB1 | c.528A= (p.Thr176=)
| |
X | g.71224235A>C | CA516821105 | GJB1 | c.528A>C (p.Thr176=)
| |
X | g.71224235A>G | CA516821108 | GJB1 | c.528A>G (p.Thr176=)
| dbSNP gnomAD v4 |
X | g.71224235A>T | CA516821110 | GJB1 | c.528A>T (p.Thr176=)
| |
X | g.71224235_71224237del | CA2695234569 | GJB1 | c.528_530del (p.Val177del)
| |
X | g.71224236G>A | CA413502996 | GJB1 | c.529G>A (p.Val177Met)
| ClinVar dbSNP |
X | g.71224236G>C | CA413502998 | GJB1 | c.529G>C (p.Val177Leu)
| |
X | g.71224236G= | CA2436388434 | GJB1 | c.529G= (p.Val177=)
| |
X | g.71224236G>T | CA413503000 | GJB1 | c.529G>T (p.Val177Leu)
| |
X | g.71224237T>A | CA413503003 | GJB1 | c.530T>A (p.Val177Glu)
| ClinVar dbSNP |
X | g.71224237T>C | CA413503005 | GJB1 | c.530T>C (p.Val177Ala)
| ClinVar dbSNP |
X | g.71224237T>G | CA413503006 | GJB1 | c.530T>G (p.Val177Gly)
| |
X | g.71224237T= | CA2436388435 | GJB1 | c.530T= (p.Val177=)
| |
X | g.71224238G>A | CA516821114 | GJB1 | c.531G>A (p.Val177=)
| gnomAD v4 |
X | g.71224238G>C | CA516821116 | GJB1 | c.531G>C (p.Val177=)
| |
X | g.71224238G= | CA2436388436 | GJB1 | c.531G= (p.Val177=)
| |
X | g.71224238G>T | CA516821117 | GJB1 | c.531G>T (p.Val177=)
| |
X | g.71224238_71224239insTTTTT | CA1134115365 | GJB1 | c.531_532insTTTTT (p.Asp178PhefsTer20)
| gnomAD v3 gnomAD v4 |
X | g.71224239G>A | CA413503011 | GJB1 | c.532G>A (p.Asp178Asn)
| ClinVar dbSNP |
X | g.71224239G>C | CA413503013 | GJB1 | c.532G>C (p.Asp178His)
| |
X | g.71224239G= | CA2436388437 | GJB1 | c.532G= (p.Asp178=)
| |
X | g.71224239G>T | CA413503015 | GJB1 | c.532G>T (p.Asp178Tyr)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.71224240_71224243dup | CA915951209 | GJB1 | c.533_536dup (p.Cys179Ter)
| ClinVar dbSNP |
X | g.71224240A= | CA2436388438 | GJB1 | c.533A= (p.Asp178=)
| |
X | g.71224240A>C | CA413503022 | GJB1 | c.533A>C (p.Asp178Ala)
| ClinVar dbSNP |
X | g.71224240A>G | CA413503019 | GJB1 | c.533A>G (p.Asp178Gly)
| ClinVar dbSNP |
X | g.71224240A>T | CA413503017 | GJB1 | c.533A>T (p.Asp178Val)
| ClinVar dbSNP |
X | g.71224241C>A | CA413503023 | GJB1 | c.534C>A (p.Asp178Glu)
| gnomAD v3 gnomAD v4 |
X | g.71224241C>G | CA413503024 | GJB1 | c.534C>G (p.Asp178Glu)
| |
X | g.71224241C>T | CA516821122 | GJB1 | c.534C>T (p.Asp178=)
| |
X | g.71224242T>A | CA413503029 | GJB1 | c.535T>A (p.Cys179Ser)
| |
X | g.71224242T>C | CA413503031 | GJB1 | c.535T>C (p.Cys179Arg)
| ClinVar dbSNP |
X | g.71224242T>G | CA413503034 | GJB1 | c.535T>G (p.Cys179Gly)
| ClinVar dbSNP |
X | g.71224242T= | CA2436388439 | GJB1 | c.535T= (p.Cys179=)
| |
X | g.71224243G>A | CA341605 | GJB1 | c.536G>A (p.Cys179Tyr)
| ClinVar dbSNP |
X | g.71224243G>C | CA413503038 | GJB1 | c.536G>C (p.Cys179Ser)
| |
X | g.71224243G= | CA2436388440 | GJB1 | c.536G= (p.Cys179=)
| |
X | g.71224243G>T | CA413503041 | GJB1 | c.536G>T (p.Cys179Phe)
| |
X | g.71224244C>A | CA413503044 | GJB1 | c.537C>A (p.Cys179Ter)
| gnomAD v3 gnomAD v4 |
X | g.71224244C= | CA2436388441 | GJB1 | c.537C= (p.Cys179=)
| |
X | g.71224244C>G | CA413503047 | GJB1 | c.537C>G (p.Cys179Trp)
| |
X | g.71224244C>T | CA516821127 | GJB1 | c.537C>T (p.Cys179=)
| dbSNP gnomAD v3 gnomAD v4 |
X | g.71224245T>A | CA413503050 | GJB1 | c.538T>A (p.Phe180Ile)
| |
X | g.71224245T>C | CA413503052 | GJB1 | c.538T>C (p.Phe180Leu)
| ClinVar dbSNP |
X | g.71224245T>G | CA413503055 | GJB1 | c.538T>G (p.Phe180Val)
| |
X | g.71224245T= | CA2436388442 | GJB1 | c.538T= (p.Phe180=)
| |
X | g.71224246T>A | CA413503060 | GJB1 | c.539T>A (p.Phe180Tyr)
| gnomAD v3 gnomAD v4 |
X | g.71224246T>C | CA413503057 | GJB1 | c.539T>C (p.Phe180Ser)
| ClinVar dbSNP |
X | g.71224246T>G | CA413503059 | GJB1 | c.539T>G (p.Phe180Cys)
| |
X | g.71224246T= | CA2436388443 | GJB1 | c.539T= (p.Phe180=)
| |
X | g.71224247C>A | CA413503063 | GJB1 | c.540C>A (p.Phe180Leu)
| gnomAD v4 |
X | g.71224247C= | CA2436388444 | GJB1 | c.540C= (p.Phe180=)
| |
X | g.71224247C>G | CA413503066 | GJB1 | c.540C>G (p.Phe180Leu)
| ClinVar dbSNP |
X | g.71224247C>T | CA10445313 | GJB1 | c.540C>T (p.Phe180=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.71224248G>A | CA10584643 | GJB1 | c.541G>A (p.Val181Met)
| ClinVar dbSNP |
X | g.71224248G>C | CA413503072 | GJB1 | c.541G>C (p.Val181Leu)
| ClinVar dbSNP |
X | g.71224248G= | CA2436388445 | GJB1 | c.541G= (p.Val181=)
| |
X | g.71224248G>T | CA16616539 | GJB1 | c.541G>T (p.Val181Leu)
| ClinVar dbSNP gnomAD v4 |
X | g.71224249T>A | CA10577659 | GJB1 | c.542T>A (p.Val181Glu)
| ClinVar dbSNP |
X | g.71224249T>C | CA413503078 | GJB1 | c.542T>C (p.Val181Ala)
| ClinVar dbSNP |
X | g.71224249T>G | CA413503080 | GJB1 | c.542T>G (p.Val181Gly)
| |
X | g.71224249T= | CA2436388446 | GJB1 | c.542T= (p.Val181=)
| |
X | g.71224249_71224254del | CA1134115392 | GJB1 | c.542_547del (p.Val181_Arg183delinsGly)
| gnomAD v3 gnomAD v4 |
X | g.71224250G>A | CA516821139 | GJB1 | c.543G>A (p.Val181=)
| |
X | g.71224250G>C | CA516821138 | GJB1 | c.543G>C (p.Val181=)
| |
X | g.71224250G>T | CA516821136 | GJB1 | c.543G>T (p.Val181=)
| |
X | g.71224251T>A | CA413503088 | GJB1 | c.544T>A (p.Ser182Thr)
| ClinVar dbSNP |
X | g.71224251T>C | CA413503089 | GJB1 | c.544T>C (p.Ser182Pro)
| |
X | g.71224251T>G | CA413503093 | GJB1 | c.544T>G (p.Ser182Ala)
| |
X | g.71224251T= | CA2436388447 | GJB1 | c.544T= (p.Ser182=)
| |
X | g.71224252C>A | CA413503100 | GJB1 | c.545C>A (p.Ser182Tyr)
| gnomAD v4 |
X | g.71224252C= | CA2436388448 | GJB1 | c.545C= (p.Ser182=)
| |
X | g.71224252C>G | CA413503098 | GJB1 | c.545C>G (p.Ser182Cys)
| ClinVar dbSNP |
X | g.71224252C>T | CA413503096 | GJB1 | c.545C>T (p.Ser182Phe)
| ClinVar dbSNP |
X | g.71224254del | CA2694032256 | GJB1 | c.547del (p.Arg183AlafsTer13)
| gnomAD v4 |
X | g.71224253C>A | CA516821146 | GJB1 | c.546C>A (p.Ser182=)
| gnomAD v4 |
X | g.71224253C= | CA2436388449 | GJB1 | c.546C= (p.Ser182=)
| |
X | g.71224253C>G | CA516821147 | GJB1 | c.546C>G (p.Ser182=)
| |
X | g.71224253C>T | CA10445314 | GJB1 | c.546C>T (p.Ser182=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.71224254C>A | CA413503107 | GJB1 | c.547C>A (p.Arg183Ser)
| ClinVar dbSNP gnomAD v4 |
X | g.71224254C= | CA2436388450 | GJB1 | c.547C= (p.Arg183=)
| |
X | g.71224254C>G | CA413503106 | GJB1 | c.547C>G (p.Arg183Gly)
| |
X | g.71224254C>T | CA336920 | GJB1 | c.547C>T (p.Arg183Cys)
| ClinVar dbSNP gnomAD v4 |
X | g.71224254_71224255delinsTT | CA2695234570 | GJB1 | c.547_548delinsTT (p.Arg183Phe)
| |
X | g.71224255G>A | CA413503111 | GJB1 | c.548G>A (p.Arg183His)
| ClinVar dbSNP gnomAD v4 |
X | g.71224255G>C | CA413503117 | GJB1 | c.548G>C (p.Arg183Pro)
| ClinVar dbSNP |
X | g.71224255G= | CA2436388451 | GJB1 | c.548G= (p.Arg183=)
| |
X | g.71224255G>T | CA413503114 | GJB1 | c.548G>T (p.Arg183Leu)
| gnomAD v4 |
X | g.71224256C>A | CA516821153 | GJB1 | c.549C>A (p.Arg183=)
| gnomAD v4 |
X | g.71224256C>G | CA516821155 | GJB1 | c.549C>G (p.Arg183=)
| gnomAD v3 gnomAD v4 |
X | g.71224256C>T | CA516821156 | GJB1 | c.549C>T (p.Arg183=)
| gnomAD v4 |
X | g.71224259del | CA2695234571 | GJB1 | c.552del (p.Thr185ProfsTer11)
| |
X | g.71224256_71224257insG | CA1134115405 | GJB1 | c.549_550insG (p.Pro184AlafsTer?)
| gnomAD v3 gnomAD v4 |
X | g.71224257C>A | CA413503119 | GJB1 | c.550C>A (p.Pro184Thr)
| gnomAD v3 gnomAD v4 |
X | g.71224257C>G | CA413503125 | GJB1 | c.550C>G (p.Pro184Ala)
| gnomAD v4 |
X | g.71224257C>T | CA413503122 | GJB1 | c.550C>T (p.Pro184Ser)
| |
X | g.71224257_71224260delinsCCCA | CA2436388452 | GJB1 | c.550_553delinsCCCA (p.Pro184=)
| |
X | g.71224258C>A | CA413503129 | GJB1 | c.551C>A (p.Pro184His)
| gnomAD v4 |
X | g.71224258C= | CA2436388453 | GJB1 | c.551C= (p.Pro184=)
| |
X | g.71224258C>G | CA413503130 | GJB1 | c.551C>G (p.Pro184Arg)
| ClinVar dbSNP |
X | g.71224258C>T | CA413503133 | GJB1 | c.551C>T (p.Pro184Leu)
| |
X | g.71224260_71224262del | CA915951210 | GJB1 | c.553_555del (p.Thr185del)
| ClinVar dbSNP |
X | g.71224259C>A | CA516821159 | GJB1 | c.552C>A (p.Pro184=)
| gnomAD v4 |
X | g.71224259C>G | CA516821161 | GJB1 | c.552C>G (p.Pro184=)
| |
X | g.71224259C>T | CA516821162 | GJB1 | c.552C>T (p.Pro184=)
| gnomAD v4 |
X | g.71224260A>C | CA413503138 | GJB1 | c.553A>C (p.Thr185Pro)
| |
X | g.71224260A>G | CA413503140 | GJB1 | c.553A>G (p.Thr185Ala)
| |
X | g.71224260A>T | CA413503142 | GJB1 | c.553A>T (p.Thr185Ser)
| |
X | g.71224261C>A | CA413503145 | GJB1 | c.554C>A (p.Thr185Asn)
| |
X | g.71224261C>G | CA413503148 | GJB1 | c.554C>G (p.Thr185Ser)
| |
X | g.71224261C>T | CA413503150 | GJB1 | c.554C>T (p.Thr185Ile)
| ClinVar gnomAD v4 |
X | g.71224262C>A | CA516821169 | GJB1 | c.555C>A (p.Thr185=)
| gnomAD v4 COSMIC |
X | g.71224262C= | CA2436388454 | GJB1 | c.555C= (p.Thr185=)
| |
X | g.71224262C>G | CA516821170 | GJB1 | c.555C>G (p.Thr185=)
| |
X | g.71224262C>T | CA516821171 | GJB1 | c.555C>T (p.Thr185=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
X | g.71224263G>A | CA341609 | GJB1 | c.556G>A (p.Glu186Lys)
| ClinVar dbSNP |
X | g.71224263G>C | CA413503153 | GJB1 | c.556G>C (p.Glu186Gln)
| |
X | g.71224263G= | CA2436388455 | GJB1 | c.556G= (p.Glu186=)
| |
X | g.71224263G>T | CA10577663 | GJB1 | c.556G>T (p.Glu186Ter)
| ClinVar dbSNP gnomAD v4 |
X | g.71224263dup | CA915951211 | GJB1 | c.556dup (p.Glu186GlyfsTer?)
| ClinVar dbSNP |
X | g.71224264A= | CA2436388456 | GJB1 | c.557A= (p.Glu186=)
| |
X | g.71224264A>C | CA413503161 | GJB1 | c.557A>C (p.Glu186Ala)
| |
X | g.71224264A>G | CA413503159 | GJB1 | c.557A>G (p.Glu186Gly)
| |
X | g.71224264A>T | CA413503158 | GJB1 | c.557A>T (p.Glu186Val)
| ClinVar dbSNP |