| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.20189126G>C | CA387461108 | GJB2 | c.456C>G (p.Tyr152Ter) | ClinVar dbSNP gnomAD v4 |
| 13 | g.20189126G>T | CA261651 | GJB2 | c.456C>A (p.Tyr152Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.20189126G>A | CA483153950 | GJB2 | c.456C>T (p.Tyr152=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |