| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.20189406C>A | CA387461699 | GJB2 | c.176G>T (p.Gly59Val) | ClinVar dbSNP |
| 13 | g.20189406C>T | CA273153 | GJB2 | c.176G>A (p.Gly59Asp) | ClinVar dbSNP |
| 13 | g.20189406C>G | CA127026 | GJB2 | c.176G>C (p.Gly59Ala) | ClinVar dbSNP gnomAD v4 |
| 13 | g.20189406C= | CA2077140093 | GJB2 | c.176G= (p.Gly59=) | dbSNP |