| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.20189547C>A | CA172228 | GJB2 | c.35G>T (p.Gly12Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.20189547C>T | CA6904330 | GJB2 | c.35G>A (p.Gly12Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.20189547C>G | CA387462219 | GJB2 | c.35G>C (p.Gly12Ala) | ClinVar dbSNP |
| 13 | g.20189547C= | CA2018046961 | GJB2 | c.35G= (p.Gly12=) | dbSNP |