| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.20189299C>T | CA172220 | GJB2 | c.283G>A (p.Val95Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.20189299C>A | CA387461477 | GJB2 | c.283G>T (p.Val95Leu) | dbSNP |
| 13 | g.20189299C= | CA2077139672 | GJB2 | c.283G= (p.Val95=) | dbSNP |
| 13 | g.20189299C>G | CA387461476 | GJB2 | c.283G>C (p.Val95Leu) | dbSNP |