| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.20189071_20189074dup | CA274346 | GJB2 | c.508_511dup (p.Ala171GlufsTer?) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.20189072_20189081del | CA2695217660 | GJB2 | c.502_511del (p.Lys168ProfsTer25) | |
| 13 | g.20189074dup | CA6904248 | GJB2 | c.509dup (p.Asn170LysfsTer?) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.20189074T>A | CA387461006 | GJB2 | c.508A>T (p.Asn170Tyr) | |
| 13 | g.20189074T>C | CA387461007 | GJB2 | c.508A>G (p.Asn170Asp) | |
| 13 | g.20189074T>G | CA387461008 | GJB2 | c.508A>C (p.Asn170His) | |
| 13 | g.20189075G>A | CA483153895 | GJB2 | c.507C>T (p.Cys169=) | |
| 13 | g.20189075G>C | CA387461009 | GJB2 | c.507C>G (p.Cys169Trp) | gnomAD v4 |
| 13 | g.20189075G>T | CA387461010 | GJB2 | c.507C>A (p.Cys169Ter) | |
| 13 | g.20189076C>A | CA387461011 | GJB2 | c.506G>T (p.Cys169Phe) | |
| 13 | g.20189076C= | CA2077139020 | GJB2 | c.506G= (p.Cys169=) | |
| 13 | g.20189076C>G | CA387461012 | GJB2 | c.506G>C (p.Cys169Ser) | |
| 13 | g.20189076C>T | CA6904251 | GJB2 | c.506G>A (p.Cys169Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.20189077A= | CA2077139024 | GJB2 | c.505T= (p.Cys169=) | |
| 13 | g.20189077A>C | CA6904252 | GJB2 | c.505T>G (p.Cys169Gly) | dbSNP ExAC |
| 13 | g.20189077A>G | CA6904253 | GJB2 | c.505T>C (p.Cys169Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.20189077A>T | CA6904254 | GJB2 | c.505T>A (p.Cys169Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.20189078C>A | CA387461013 | GJB2 | c.504G>T (p.Lys168Asn) | gnomAD v4 |
| 13 | g.20189078C>G | CA387461014 | GJB2 | c.504G>C (p.Lys168Asn) | gnomAD v4 |
| 13 | g.20189078C>T | CA483153900 | GJB2 | c.504G>A (p.Lys168=) | ClinVar dbSNP |
| 13 | g.20189078_20189079insCTTC | CA2695217661 | GJB2 | c.504_505insAAGG (p.Cys169LysfsTer?) | |
| 13 | g.20189079T>A | CA387461015 | GJB2 | c.503A>T (p.Lys168Met) | |
| 13 | g.20189079T>C | CA134979 | GJB2 | c.503A>G (p.Lys168Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.20189079T>G | CA387461016 | GJB2 | c.503A>C (p.Lys168Thr) | |
| 13 | g.20189079T= | CA2077139031 | GJB2 | c.503A= (p.Lys168=) | |
| 13 | g.20189080T>A | CA387461017 | GJB2 | c.502A>T (p.Lys168Ter) | |
| 13 | g.20189080T>C | CA6904255 | GJB2 | c.502A>G (p.Lys168Glu) | dbSNP ExAC gnomAD v2 |
| 13 | g.20189080T>G | CA387461018 | GJB2 | c.502A>C (p.Lys168Gln) | |
| 13 | g.20189080T= | CA2077139036 | GJB2 | c.502A= (p.Lys168=) | |
| 13 | g.20189081C>A | CA483153903 | GJB2 | c.501G>T (p.Val167=) | |
| 13 | g.20189081C>G | CA483153904 | GJB2 | c.501G>C (p.Val167=) | |
| 13 | g.20189081C>T | CA483153906 | GJB2 | c.501G>A (p.Val167=) | |
| 13 | g.20189082A= | CA2077139042 | GJB2 | c.500T= (p.Val167=) | |
| 13 | g.20189082A>C | CA6904256 | GJB2 | c.500T>G (p.Val167Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.20189082A>G | CA387461019 | GJB2 | c.500T>C (p.Val167Ala) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.20189082A>T | CA387461020 | GJB2 | c.500T>A (p.Val167Glu) | |
| 13 | g.20189083C>A | CA387461021 | GJB2 | c.499G>T (p.Val167Leu) | |
| 13 | g.20189083C= | CA2077139045 | GJB2 | c.499G= (p.Val167=) | |
| 13 | g.20189083C>G | CA387461022 | GJB2 | c.499G>C (p.Val167Leu) | |
| 13 | g.20189083C>T | CA134983 | GJB2 | c.499G>A (p.Val167Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.20189084C>A | CA483153907 | GJB2 | c.498G>T (p.Leu166=) | |
| 13 | g.20189084C>G | CA483153908 | GJB2 | c.498G>C (p.Leu166=) | |
| 13 | g.20189084C>T | CA483153909 | GJB2 | c.498G>A (p.Leu166=) | |
| 13 | g.20189085A>C | CA387461025 | GJB2 | c.497T>G (p.Leu166Arg) | |
| 13 | g.20189085A>G | CA387461024 | GJB2 | c.497T>C (p.Leu166Pro) | |
| 13 | g.20189085A>T | CA387461023 | GJB2 | c.497T>A (p.Leu166Gln) | |
| 13 | g.20189086G>A | CA483153912 | GJB2 | c.496C>T (p.Leu166=) | |
| 13 | g.20189086G>C | CA387461026 | GJB2 | c.496C>G (p.Leu166Val) | |
| 13 | g.20189086G>T | CA387461027 | GJB2 | c.496C>A (p.Leu166Met) | |
| 13 | g.20189087C>A | CA483153913 | GJB2 | c.495G>T (p.Arg165=) |