Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.67717535G>TCA120786ARc.*579G>T (n.*579G>T)
c.2231G>T (p.Gly744Val)
c.858G>T (n.858G>T)
c.2173+5846G>T (n.2173+5846G>T)
c.635G>T (p.Gly212Val)
c.1661G>T (p.Gly554Val)
ClinVar dbSNP
Xg.67717535G>ACA120789ARc.*579G>A (n.*579G>A)
c.2231G>A (p.Gly744Glu)
c.858G>A (n.858G>A)
c.2173+5846G>A (n.2173+5846G>A)
c.635G>A (p.Gly212Glu)
c.1661G>A (p.Gly554Glu)
ClinVar dbSNP

Number of alleles fetched