| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.20189443C>A | CA172213 | GJB2 | c.139G>T (p.Glu47Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.20189443C>T | CA387461835 | GJB2 | c.139G>A (p.Glu47Lys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.20189443C>G | CA387461834 | GJB2 | c.139G>C (p.Glu47Gln) | dbSNP |
| 13 | g.20189443C= | CA2077140219 | GJB2 | c.139G= (p.Glu47=) | dbSNP |