Chr Mutation (hg38) CAid Gene Transcript Linkouts
8g.125059395C>TCA236317WASHC5c.1669G>A (p.Ala557Thr)
c.1225G>A (p.Ala409Thr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.125059395C>GCA372192060WASHC5c.1669G>C (p.Ala557Pro)
c.1225G>C (p.Ala409Pro)
dbSNP gnomAD v2 gnomAD v4
8g.125059395C>ACA372192059WASHC5c.1669G>T (p.Ala557Ser)
c.1225G>T (p.Ala409Ser)
dbSNP gnomAD v4
8g.125059395C=CA1817265040WASHC5c.1669G= (p.Ala557=)
c.1225G= (p.Ala409=)
dbSNP

Number of alleles fetched