Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.218814716C>G | CA340223 | CYP27A1 | c.1435C>G (p.Arg479Gly) n.2147C>G c.1015C>G (p.Arg339Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.218814716C>T | CA340210 | CYP27A1 | c.1435C>T (p.Arg479Cys) n.2147C>T c.1015C>T (p.Arg339Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.218814716C>A | CA2112894 | CYP27A1 | c.1435C>A (p.Arg479Ser) n.2147C>A c.1015C>A (p.Arg339Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |