Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.20189315_20189336del | CA2622252297 | GJB2 | c.248_269del (p.Phe83Ter) | gnomAD v4 |
13 | g.20189335_20189337del | CA2573053787 | GJB2 | c.247_249del (p.Phe83del) | ClinVar dbSNP |
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 |