Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.31529326G>A | CA340074 | SRD5A2 | c.679C>T (p.Arg227Ter) c.457C>T (p.Arg153Ter) c.424C>T (p.Arg142Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.31529326G>T | CA425567403 | SRD5A2 | c.679C>A (p.Arg227=) c.457C>A (p.Arg153=) c.424C>A (p.Arg142=) | dbSNP |
2 | g.31529326G>C | CA346597880 | SRD5A2 | c.679C>G (p.Arg227Gly) c.457C>G (p.Arg153Gly) c.424C>G (p.Arg142Gly) | dbSNP gnomAD v4 |
2 | g.31529326G= | CA1242197374 | SRD5A2 | c.679C= (p.Arg227=) c.457C= (p.Arg153=) c.424C= (p.Arg142=) | dbSNP |