Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.67717601C>ACA16621465ARc.*645C>A (n.*645C>A)
c.2297C>A (p.Ala766Asp)
c.924C>A (n.924C>A)
c.2173+5912C>A (n.2173+5912C>A)
c.701C>A (p.Ala234Asp)
c.1727C>A (p.Ala576Asp)
ClinVar dbSNP
Xg.67717601C>TCA413424763ARc.*645C>T (n.*645C>T)
c.2297C>T (p.Ala766Val)
c.924C>T (n.924C>T)
c.2173+5912C>T (n.2173+5912C>T)
c.701C>T (p.Ala234Val)
c.1727C>T (p.Ala576Val)
dbSNP
Xg.67717601C>GCA413424762ARc.*645C>G (n.*645C>G)
c.2297C>G (p.Ala766Gly)
c.924C>G (n.924C>G)
c.2173+5912C>G (n.2173+5912C>G)
c.701C>G (p.Ala234Gly)
c.1727C>G (p.Ala576Gly)
dbSNP

Number of alleles fetched