| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.34790024C>T | CA10645768 | ACTC1,GJD2-DT | c.*388G>A (n.*388G>A) n.299+12593C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.34790024C>G | CA268659766 | ACTC1,GJD2-DT | c.*388G>C (n.*388G>C) n.299+12593C>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.34790024C= | CA2169203046 | ACTC1,GJD2-DT | c.*388G= (n.*388G=) n.299+12593C= | dbSNP |
| 15 | g.34790024C>A | CA2580604062 | ACTC1,GJD2-DT | c.*388G>T (n.*388G>T) n.299+12593C>A | dbSNP gnomAD v4 |