Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
15 | g.34788730T>C | CA10645712 | ACTC1,GJD2-DT | c.*1682A>G (n.*1682A>G) n.299+11299T>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.34788730T>A | CA712313360 | ACTC1,GJD2-DT | c.*1682A>T (n.*1682A>T) n.299+11299T>A | dbSNP |