Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.67721909C>TCA413426801ARc.*743C>T (n.*743C>T)
c.2395C>T (p.Gln799Ter)
c.1022C>T (n.1022C>T)
c.2174-1777C>T (n.2174-1777C>T)
c.799C>T (p.Gln267Ter)
c.1825C>T (p.Gln609Ter)
dbSNP
Xg.67721909C>GCA120774ARc.*743C>G (n.*743C>G)
c.2395C>G (p.Gln799Glu)
c.1022C>G (n.1022C>G)
c.2174-1777C>G (n.2174-1777C>G)
c.799C>G (p.Gln267Glu)
c.1825C>G (p.Gln609Glu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.67721909C>ACA413426798ARc.*743C>A (n.*743C>A)
c.2395C>A (p.Gln799Lys)
c.1022C>A (n.1022C>A)
c.2174-1777C>A (n.2174-1777C>A)
c.799C>A (p.Gln267Lys)
c.1825C>A (p.Gln609Lys)
dbSNP

Number of alleles fetched