Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.139561872G>CCA255433F9c.1187G>C (p.Cys396Ser)
n.1723+131G>C
c.1073G>C (p.Cys358Ser)
c.1058G>C (p.Cys353Ser)
ClinVar dbSNP
Xg.139561872G>ACA414446367F9c.1187G>A (p.Cys396Tyr)
n.1723+131G>A
c.1073G>A (p.Cys358Tyr)
c.1058G>A (p.Cys353Tyr)
ClinVar dbSNP

Number of alleles fetched