Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.67711653C>GCA413423494ARc.*485C>G (n.*485C>G)
c.2137C>G (p.Leu713Val)
c.764C>G (n.764C>G)
c.541C>G (p.Leu181Val)
c.1567C>G (p.Leu523Val)
dbSNP
Xg.67711653C>TCA254900ARc.*485C>T (n.*485C>T)
c.2137C>T (p.Leu713Phe)
c.764C>T (n.764C>T)
c.541C>T (p.Leu181Phe)
c.1567C>T (p.Leu523Phe)
ClinVar dbSNP
Xg.67711653C>ACA16608973ARc.*485C>A (n.*485C>A)
c.2137C>A (p.Leu713Ile)
c.764C>A (n.764C>A)
c.541C>A (p.Leu181Ile)
c.1567C>A (p.Leu523Ile)
ClinVar dbSNP

Number of alleles fetched