| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.20189487C>T | CA261654 | GJB2 | c.95G>A (p.Arg32His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.20189487C>G | CA387461993 | GJB2 | c.95G>C (p.Arg32Pro) | ClinVar dbSNP |
| 13 | g.20189487C>A | CA6904322 | GJB2 | c.95G>T (p.Arg32Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.20189487C= | CA2077140417 | GJB2 | c.95G= (p.Arg32=) | dbSNP |