Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.139551220G>ACA10529819F9c.679G>A (p.Val227Ile)
n.1346G>A
c.565G>A (p.Val189Ile)
c.550G>A (p.Val184Ile)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.139551220G>TCA336137507F9c.679G>T (p.Val227Phe)
n.1346G>T
c.565G>T (p.Val189Phe)
c.550G>T (p.Val184Phe)
dbSNP

Number of alleles fetched