Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.67711673G>CCA413423538ARc.*505G>C (n.*505G>C)
c.2157G>C (p.Trp719Cys)
c.784G>C (n.784G>C)
c.561G>C (p.Trp187Cys)
c.1587G>C (p.Trp529Cys)
dbSNP
Xg.67711673G>ACA120680ARc.*505G>A (n.*505G>A)
c.2157G>A (p.Trp719Ter)
c.784G>A (n.784G>A)
c.561G>A (p.Trp187Ter)
c.1587G>A (p.Trp529Ter)
ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.67711673G>TCA413423539ARc.*505G>T (n.*505G>T)
c.2157G>T (p.Trp719Cys)
c.784G>T (n.784G>T)
c.561G>T (p.Trp187Cys)
c.1587G>T (p.Trp529Cys)
dbSNP

Number of alleles fetched