Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.31529326G>ACA340074SRD5A2c.679C>T (p.Arg227Ter)
c.457C>T (p.Arg153Ter)
c.424C>T (p.Arg142Ter)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.31529326G>TCA425567403SRD5A2c.679C>A (p.Arg227=)
c.457C>A (p.Arg153=)
c.424C>A (p.Arg142=)
dbSNP
2g.31529326G>CCA346597880SRD5A2c.679C>G (p.Arg227Gly)
c.457C>G (p.Arg153Gly)
c.424C>G (p.Arg142Gly)
dbSNP gnomAD v4
2g.31529326G=CA1242197374SRD5A2c.679C= (p.Arg227=)
c.457C= (p.Arg153=)
c.424C= (p.Arg142=)
dbSNP

Number of alleles fetched