Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.67722948C>TCA10436674ARc.*919C>T (n.*919C>T)
c.2571C>T (p.Phe857=)
c.1198C>T (n.1198C>T)
c.2174-738C>T (n.2174-738C>T)
c.975C>T (p.Phe325=)
c.2022C>T (p.Phe674=)
dbSNP ExAC gnomAD v2 gnomAD v4
Xg.67722948C>GCA254894ARc.*919C>G (n.*919C>G)
c.2571C>G (p.Phe857Leu)
c.1198C>G (n.1198C>G)
c.2174-738C>G (n.2174-738C>G)
c.975C>G (p.Phe325Leu)
c.2022C>G (p.Phe674Leu)
ClinVar dbSNP

Number of alleles fetched