Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.67717552A>CCA413424645ARc.*596A>C (n.*596A>C)
c.2248A>C (p.Met750Leu)
c.875A>C (n.875A>C)
c.2173+5863A>C (n.2173+5863A>C)
c.652A>C (p.Met218Leu)
c.1678A>C (p.Met560Leu)
dbSNP
Xg.67717552A>GCA413424646ARc.*596A>G (n.*596A>G)
c.2248A>G (p.Met750Val)
c.875A>G (n.875A>G)
c.2173+5863A>G (n.2173+5863A>G)
c.652A>G (p.Met218Val)
c.1678A>G (p.Met560Val)
ClinVar dbSNP
Xg.67717552A>TCA413424647ARc.*596A>T (n.*596A>T)
c.2248A>T (p.Met750Leu)
c.875A>T (n.875A>T)
c.2173+5863A>T (n.2173+5863A>T)
c.652A>T (p.Met218Leu)
c.1678A>T (p.Met560Leu)
dbSNP

Number of alleles fetched