Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.67717526C>ACA413424509ARc.*570C>A (n.*570C>A)
c.2222C>A (p.Ser741Tyr)
c.849C>A (n.849C>A)
c.2173+5837C>A (n.2173+5837C>A)
c.626C>A (p.Ser209Tyr)
c.1652C>A (p.Ser551Tyr)
dbSNP
Xg.67717526C>TCA413424512ARc.*570C>T (n.*570C>T)
c.2222C>T (p.Ser741Phe)
c.849C>T (n.849C>T)
c.2173+5837C>T (n.2173+5837C>T)
c.626C>T (p.Ser209Phe)
c.1652C>T (p.Ser551Phe)
ClinVar dbSNP COSMIC COSMIC
Xg.67717526C>GCA120792ARc.*570C>G (n.*570C>G)
c.2222C>G (p.Ser741Cys)
c.849C>G (n.849C>G)
c.2173+5837C>G (n.2173+5837C>G)
c.626C>G (p.Ser209Cys)
c.1652C>G (p.Ser551Cys)
ClinVar dbSNP

Number of alleles fetched