Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.67722898C>ACA413427905ARc.*869C>A (n.*869C>A)
c.2521C>A (p.Arg841Ser)
c.1148C>A (n.1148C>A)
c.2174-788C>A (n.2174-788C>A)
c.925C>A (p.Arg309Ser)
c.1972C>A (p.Arg658Ser)
ClinVar dbSNP
Xg.67722898C>TCA120734ARc.*869C>T (n.*869C>T)
c.2521C>T (p.Arg841Cys)
c.1148C>T (n.1148C>T)
c.2174-788C>T (n.2174-788C>T)
c.925C>T (p.Arg309Cys)
c.1972C>T (p.Arg658Cys)
ClinVar dbSNP gnomAD v4
Xg.67722898C>GCA413427911ARc.*869C>G (n.*869C>G)
c.2521C>G (p.Arg841Gly)
c.1148C>G (n.1148C>G)
c.2174-788C>G (n.2174-788C>G)
c.925C>G (p.Arg309Gly)
c.1972C>G (p.Arg658Gly)
dbSNP
Xg.67722898C=CA2435134829ARc.*869C= (n.*869C=)
c.2521C= (p.Arg841=)
c.1148C= (n.1148C=)
c.2174-788C= (n.2174-788C=)
c.925C= (p.Arg309=)
c.1972C= (p.Arg658=)
dbSNP

Number of alleles fetched