| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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.20189332C>A | CA234087 | GJB2 | c.250G>T (p.Val84Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |