| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.20189047C>G | CA387460951 | GJB2 | c.535G>C (p.Asp179His) | ClinVar dbSNP gnomAD v4 |
| 13 | g.20189047C>T | CA257681 | GJB2 | c.535G>A (p.Asp179Asn) | ClinVar dbSNP |
| 13 | g.20189047C>A | CA6904242 | GJB2 | c.535G>T (p.Asp179Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.20189047C= | CA2077138930 | GJB2 | c.535G= (p.Asp179=) | dbSNP |