| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.20189573C>T | CA261655 | GJB2 | c.9G>A (p.Trp3Ter) | ClinVar dbSNP |
| 13 | g.20189573C>A | CA387462278 | GJB2 | c.9G>T (p.Trp3Cys) | ClinVar dbSNP |
| 13 | g.20189573C>G | CA387462279 | GJB2 | c.9G>C (p.Trp3Cys) | dbSNP |
| 13 | g.20189573C= | CA2077110092 | GJB2 | c.9G= (p.Trp3=) | dbSNP |