Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
15 | g.34789373C>T | CA10645747 | ACTC1,GJD2-DT | c.*1039G>A (n.*1039G>A) n.299+11942C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.34789373C>G | CA712313734 | ACTC1,GJD2-DT | c.*1039G>C (n.*1039G>C) n.299+11942C>G | dbSNP gnomAD v3 gnomAD v4 |