Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.30987821A>T | CA8018105 | HSD3B7 | c.748A>T (p.Thr250Ser) c.585A>T (p.Gln195His) | dbSNP ExAC gnomAD v2 |
16 | g.30987821A>G | CA8018104 | HSD3B7 | c.748A>G (p.Thr250Ala) c.585A>G (p.Gln195=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.30987821A>C | CA395642566 | HSD3B7 | c.748A>C (p.Thr250Pro) c.585A>C (p.Gln195His) | dbSNP |