Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
15 | g.74339687G>A | CA127237 | CYP11A1 | c.1057C>T (p.Arg353Trp) c.583C>T (p.Arg195Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.74339687G= | CA2187637985 | CYP11A1 | c.1057C= (p.Arg353=) c.583C= (p.Arg195=) | dbSNP |
15 | g.74339687G>C | CA393147146 | CYP11A1 | c.1057C>G (p.Arg353Gly) c.583C>G (p.Arg195Gly) | ClinVar dbSNP gnomAD v4 |