| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.20189154C>T | CA257677 | GJB2 | c.428G>A (p.Arg143Gln) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 13 | g.20189154C= | CA2077139238 | GJB2 | c.428G= (p.Arg143=) | dbSNP |
| 13 | g.20189154C>A | CA387461167 | GJB2 | c.428G>T (p.Arg143Leu) | ClinVar dbSNP gnomAD v4 |
| 13 | g.20189154C>G | CA387461168 | GJB2 | c.428G>C (p.Arg143Pro) | ClinVar dbSNP |