13 | g.20189315_20189336del | CA2622252297 | GJB2 | c.248_269del (p.Phe83Ter)
| gnomAD v4 |
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.20189357_20189359del | CA2842434868 | GJB2 | c.224_226del (p.Arg75del)
| |
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.20189367del | CA2842434869 | GJB2 | c.217del (p.His73ThrfsTer9)
| |
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 |
13 | g.20189392A>C | CA387461659 | GJB2 | c.190T>G (p.Cys64Gly)
| |
13 | g.20189392A>G | CA387461660 | GJB2 | c.190T>C (p.Cys64Arg)
| |
13 | g.20189392A>T | CA387461661 | GJB2 | c.190T>A (p.Cys64Ser)
| |
13 | g.20189393C>A | CA483153830 | GJB2 | c.189G>T (p.Val63=)
| ClinVar dbSNP |
13 | g.20189393C= | CA2077140046 | GJB2 | c.189G= (p.Val63=)
| |
13 | g.20189393C>G | CA483153828 | GJB2 | c.189G>C (p.Val63=)
| |
13 | g.20189393C>T | CA483153829 | GJB2 | c.189G>A (p.Val63=)
| |
13 | g.20189394A= | CA2077140050 | GJB2 | c.188T= (p.Val63=)
| |
13 | g.20189394A>C | CA387461662 | GJB2 | c.188T>G (p.Val63Gly)
| |
13 | g.20189394A>G | CA180700 | GJB2 | c.188T>C (p.Val63Ala)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189394A>T | CA387461663 | GJB2 | c.188T>A (p.Val63Glu)
| |
13 | g.20189395del | CA2695217716 | GJB2 | c.187del (p.Val63CysfsTer19)
| |
13 | g.20189395C>A | CA6904306 | GJB2 | c.187G>T (p.Val63Leu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189395C= | CA2077140055 | GJB2 | c.187G= (p.Val63=)
| |
13 | g.20189395C>G | CA387461664 | GJB2 | c.187G>C (p.Val63Leu)
| ClinVar |
13 | g.20189395C>T | CA222244 | GJB2 | c.187G>A (p.Val63Met)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189396G>A | CA134949 | GJB2 | c.186C>T (p.Asn62=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
13 | g.20189396G>C | CA387461665 | GJB2 | c.186C>G (p.Asn62Lys)
| |
13 | g.20189396G= | CA2077140061 | GJB2 | c.186C= (p.Asn62=)
| |
13 | g.20189396G>T | CA387461666 | GJB2 | c.186C>A (p.Asn62Lys)
| dbSNP gnomAD v3 gnomAD v4 |
13 | g.20189397T>A | CA387461667 | GJB2 | c.185A>T (p.Asn62Ile)
| |
13 | g.20189397T>C | CA387461668 | GJB2 | c.185A>G (p.Asn62Ser)
| dbSNP gnomAD v2 gnomAD v4 |
13 | g.20189397T>G | CA387461669 | GJB2 | c.185A>C (p.Asn62Thr)
| |
13 | g.20189397T= | CA2077140069 | GJB2 | c.185A= (p.Asn62=)
| |
13 | g.20189397_20189398insA | CA2695217717 | GJB2 | c.184_185insT (p.Asn62IlefsTer?)
| |
13 | g.20189398T>A | CA387461671 | GJB2 | c.184A>T (p.Asn62Tyr)
| |
13 | g.20189398T>C | CA387461672 | GJB2 | c.184A>G (p.Asn62Asp)
| |
13 | g.20189398T>G | CA387461670 | GJB2 | c.184A>C (p.Asn62His)
| |
13 | g.20189399C>A | CA387461673 | GJB2 | c.183G>T (p.Lys61Asn)
| |
13 | g.20189399C= | CA2077140073 | GJB2 | c.183G= (p.Lys61=)
| |
13 | g.20189399C>G | CA387461675 | GJB2 | c.183G>C (p.Lys61Asn)
| |
13 | g.20189399C>T | CA6904307 | GJB2 | c.183G>A (p.Lys61=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.20189400T>A | CA387461677 | GJB2 | c.182A>T (p.Lys61Met)
| |
13 | g.20189400T>C | CA387461679 | GJB2 | c.182A>G (p.Lys61Arg)
| |
13 | g.20189400T>G | CA387461680 | GJB2 | c.182A>C (p.Lys61Thr)
| |
13 | g.20189401T>A | CA387461681 | GJB2 | c.181A>T (p.Lys61Ter)
| |
13 | g.20189401T>C | CA387461683 | GJB2 | c.181A>G (p.Lys61Glu)
| |
13 | g.20189401T>G | CA387461685 | GJB2 | c.181A>C (p.Lys61Gln)
| |
13 | g.20189402G>A | CA483153833 | GJB2 | c.180C>T (p.Cys60=)
| |
13 | g.20189402G>C | CA387461687 | GJB2 | c.180C>G (p.Cys60Trp)
| |
13 | g.20189402G>T | CA387461688 | GJB2 | c.180C>A (p.Cys60Ter)
| |
13 | g.20189403C>A | CA387461690 | GJB2 | c.179G>T (p.Cys60Phe)
| dbSNP |
13 | g.20189403C= | CA2077140077 | GJB2 | c.179G= (p.Cys60=)
| |
13 | g.20189403C>G | CA387461692 | GJB2 | c.179G>C (p.Cys60Ser)
| |
13 | g.20189403C>T | CA387461694 | GJB2 | c.179G>A (p.Cys60Tyr)
| gnomAD v4 COSMIC |
13 | g.20189404A= | CA2077140079 | GJB2 | c.178T= (p.Cys60=)
| |
13 | g.20189404A>C | CA387461695 | GJB2 | c.178T>G (p.Cys60Gly)
| ClinVar |
13 | g.20189404A>G | CA246460715 | GJB2 | c.178T>C (p.Cys60Arg)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189404A>T | CA387461696 | GJB2 | c.178T>A (p.Cys60Ser)
| |
13 | g.20189405G>A | CA6904308 | GJB2 | c.177C>T (p.Gly59=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189405G>C | CA483153835 | GJB2 | c.177C>G (p.Gly59=)
| |
13 | g.20189405G= | CA2077140084 | GJB2 | c.177C= (p.Gly59=)
| |
13 | g.20189405G>T | CA483153836 | GJB2 | c.177C>A (p.Gly59=)
| |
13 | g.20189406C>A | CA387461699 | GJB2 | c.176G>T (p.Gly59Val)
| ClinVar dbSNP |
13 | g.20189406C= | CA2077140093 | GJB2 | c.176G= (p.Gly59=)
| |
13 | g.20189406C>G | CA127026 | GJB2 | c.176G>C (p.Gly59Ala)
| ClinVar dbSNP gnomAD v4 |
13 | g.20189406C>T | CA273153 | GJB2 | c.176G>A (p.Gly59Asp)
| ClinVar dbSNP |
13 | g.20189407del | CA2695217718 | GJB2 | c.176del (p.Gly59AlafsTer23)
| |
13 | g.20189407C>A | CA387461702 | GJB2 | c.175G>T (p.Gly59Cys)
| |
13 | g.20189407C= | CA2077140098 | GJB2 | c.175G= (p.Gly59=)
| |
13 | g.20189407C>G | CA387461703 | GJB2 | c.175G>C (p.Gly59Arg)
| ClinVar dbSNP |
13 | g.20189407C>T | CA127035 | GJB2 | c.175G>A (p.Gly59Ser)
| ClinVar dbSNP |
13 | g.20189408T>A | CA483153838 | GJB2 | c.174A>T (p.Pro58=)
| |
13 | g.20189408T>C | CA6904309 | GJB2 | c.174A>G (p.Pro58=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189408T>G | CA483153839 | GJB2 | c.174A>C (p.Pro58=)
| |
13 | g.20189408T= | CA2077140104 | GJB2 | c.174A= (p.Pro58=)
| |
13 | g.20189409G>A | CA387461705 | GJB2 | c.173C>T (p.Pro58Leu)
| |
13 | g.20189409G>C | CA387461707 | GJB2 | c.173C>G (p.Pro58Arg)
| |
13 | g.20189409G= | CA2077140107 | GJB2 | c.173C= (p.Pro58=)
| |
13 | g.20189409G>T | CA246460749 | GJB2 | c.173C>A (p.Pro58Gln)
| dbSNP |
13 | g.20189410G>A | CA387461710 | GJB2 | c.172C>T (p.Pro58Ser)
| ClinVar dbSNP |
13 | g.20189410G>C | CA16621539 | GJB2 | c.172C>G (p.Pro58Ala)
| ClinVar dbSNP |
13 | g.20189410G= | CA2077140113 | GJB2 | c.172C= (p.Pro58=)
| |
13 | g.20189410G>T | CA387461711 | GJB2 | c.172C>A (p.Pro58Thr)
| |
13 | g.20189410_20189411delinsAA | CA2695217719 | GJB2 | c.171_172delinsTT (p.Gln57_Pro58delinsHisSer)
| |
13 | g.20189411C>A | CA387461713 | GJB2 | c.171G>T (p.Gln57His)
| |
13 | g.20189411C= | CA2077140121 | GJB2 | c.171G= (p.Gln57=)
| |
13 | g.20189411C>G | CA387461715 | GJB2 | c.171G>C (p.Gln57His)
| |
13 | g.20189411C>T | CA16621645 | GJB2 | c.171G>A (p.Gln57=)
| ClinVar dbSNP |
13 | g.20189412T>A | CA387461717 | GJB2 | c.170A>T (p.Gln57Leu)
| |
13 | g.20189412T>C | CA387461718 | GJB2 | c.170A>G (p.Gln57Arg)
| |
13 | g.20189412T>G | CA387461720 | GJB2 | c.170A>C (p.Gln57Pro)
| |
13 | g.20189413G>A | CA261637 | GJB2 | c.169C>T (p.Gln57Ter)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189413G>C | CA387461722 | GJB2 | c.169C>G (p.Gln57Glu)
| |
13 | g.20189413G= | CA2077140126 | GJB2 | c.169C= (p.Gln57=)
| |
13 | g.20189413G>T | CA387461724 | GJB2 | c.169C>A (p.Gln57Lys)
| |
13 | g.20189414C>A | CA483153847 | GJB2 | c.168G>T (p.Leu56=)
| ClinVar |
13 | g.20189414C>G | CA483153848 | GJB2 | c.168G>C (p.Leu56=)
| |
13 | g.20189414C>T | CA483153849 | GJB2 | c.168G>A (p.Leu56=)
| ClinVar |
13 | g.20189414_20189415delinsCA | CA2077140129 | GJB2 | c.167_168delinsTG (p.Leu56=)
| |
13 | g.20189415del | CA172217 | GJB2 | c.167del (p.Leu56ArgfsTer26)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189415A= | CA2581125597 | GJB2 | c.167T= (p.Leu56=)
| |
13 | g.20189415A>C | CA387461726 | GJB2 | c.167T>G (p.Leu56Arg)
| |
13 | g.20189415A>G | CA387461728 | GJB2 | c.167T>C (p.Leu56Pro)
| |
13 | g.20189415A>T | CA387461729 | GJB2 | c.167T>A (p.Leu56Gln)
| |
13 | g.20189415dup | CA2575364822 | GJB2 | c.167dup (p.Gln57AlafsTer?)
| |
13 | g.20189416G>A | CA246460780 | GJB2 | c.166C>T (p.Leu56=)
| ClinVar dbSNP |
13 | g.20189416G>C | CA387461732 | GJB2 | c.166C>G (p.Leu56Val)
| |
13 | g.20189416G= | CA2077140134 | GJB2 | c.166C= (p.Leu56=)
| |
13 | g.20189416G>T | CA387461734 | GJB2 | c.166C>A (p.Leu56Met)
| |
13 | g.20189418del | CA387461735 | GJB2 | c.166del (p.Leu56CysfsTer26)
| |
13 | g.20189417G>A | CA483153852 | GJB2 | c.165C>T (p.Thr55=)
| gnomAD v4 |
13 | g.20189417G>C | CA483153854 | GJB2 | c.165C>G (p.Thr55=)
| |
13 | g.20189417G>T | CA483153853 | GJB2 | c.165C>A (p.Thr55=)
| |
13 | g.20189418G>A | CA387461738 | GJB2 | c.164C>T (p.Thr55Ile)
| |
13 | g.20189418G>C | CA387461739 | GJB2 | c.164C>G (p.Thr55Ser)
| |
13 | g.20189418G= | CA2077140138 | GJB2 | c.164C= (p.Thr55=)
| |
13 | g.20189418G>T | CA16621540 | GJB2 | c.164C>A (p.Thr55Asn)
| ClinVar dbSNP |
13 | g.20189419T>A | CA387461741 | GJB2 | c.163A>T (p.Thr55Ser)
| |
13 | g.20189419T>C | CA387461742 | GJB2 | c.163A>G (p.Thr55Ala)
| |
13 | g.20189419T>G | CA387461744 | GJB2 | c.163A>C (p.Thr55Pro)
| dbSNP |
13 | g.20189419T= | CA2077140144 | GJB2 | c.163A= (p.Thr55=)
| |
13 | g.20189420G>A | CA483153855 | GJB2 | c.162C>T (p.Asn54=)
| ClinVar dbSNP gnomAD v4 |
13 | g.20189420G>C | CA387461746 | GJB2 | c.162C>G (p.Asn54Lys)
| |
13 | g.20189420G= | CA2077140149 | GJB2 | c.162C= (p.Asn54=)
| |
13 | g.20189420G>T | CA127032 | GJB2 | c.162C>A (p.Asn54Lys)
| ClinVar dbSNP |
13 | g.20189421T>A | CA387461751 | GJB2 | c.161A>T (p.Asn54Ile)
| |
13 | g.20189421T>C | CA387461749 | GJB2 | c.161A>G (p.Asn54Ser)
| ClinVar dbSNP |
13 | g.20189421T>G | CA387461750 | GJB2 | c.161A>C (p.Asn54Thr)
| |
13 | g.20189422T>A | CA387461753 | GJB2 | c.160A>T (p.Asn54Tyr)
| |
13 | g.20189422T>C | CA387461754 | GJB2 | c.160A>G (p.Asn54Asp)
| |
13 | g.20189422T>G | CA387461756 | GJB2 | c.160A>C (p.Asn54His)
| |
13 | g.20189423G>A | CA246460790 | GJB2 | c.159C>T (p.Cys53=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.20189423G>C | CA387461757 | GJB2 | c.159C>G (p.Cys53Trp)
| gnomAD v4 |
13 | g.20189423G= | CA2077140152 | GJB2 | c.159C= (p.Cys53=)
| |
13 | g.20189423G>T | CA387461758 | GJB2 | c.159C>A (p.Cys53Ter)
| |