| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.20189095T>G | CA16621538 | GJB2 | c.487A>C (p.Met163Leu) | ClinVar dbSNP |
| 13 | g.20189095T>C | CA134981 | GJB2 | c.487A>G (p.Met163Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.20189095T>A | CA387461044 | GJB2 | c.487A>T (p.Met163Leu) | ClinVar dbSNP |
| 13 | g.20189095T= | CA2077139072 | GJB2 | c.487A= (p.Met163=) | dbSNP |