Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.31529325C>TCA116158SRD5A2c.680G>A (p.Arg227Gln)
c.458G>A (p.Arg153Gln)
c.425G>A (p.Arg142Gln)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.31529325C=CA1242197373SRD5A2c.680G= (p.Arg227=)
c.458G= (p.Arg153=)
c.425G= (p.Arg142=)
dbSNP

Number of alleles fetched