Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.67711680G>CCA413423554ARc.*512G>C (n.*512G>C)
c.2164G>C (p.Ala722Pro)
c.791G>C (n.791G>C)
c.568G>C (p.Ala190Pro)
c.1594G>C (p.Ala532Pro)
dbSNP
Xg.67711680G>ACA120752ARc.*512G>A (n.*512G>A)
c.2164G>A (p.Ala722Thr)
c.791G>A (n.791G>A)
c.568G>A (p.Ala190Thr)
c.1594G>A (p.Ala532Thr)
ClinVar dbSNP COSMIC

Number of alleles fetched