| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.20189386C>A | CA387461647 | GJB2 | c.196G>T (p.Asp66Tyr) | ClinVar dbSNP |
| 13 | g.20189386C>G | CA127024 | GJB2 | c.196G>C (p.Asp66His) | ClinVar dbSNP |
| 13 | g.20189386C>T | CA387461646 | GJB2 | c.196G>A (p.Asp66Asn) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.20189386C= | CA2077140020 | GJB2 | c.196G= (p.Asp66=) | dbSNP |