Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.139561835C>TCA255399F9c.1150C>T (p.Arg384Ter)
n.1723+94C>T
c.1036C>T (p.Arg346Ter)
c.1021C>T (p.Arg341Ter)
ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC
Xg.139561835C>ACA10529874F9c.1150C>A (p.Arg384=)
n.1723+94C>A
c.1036C>A (p.Arg346=)
c.1021C>A (p.Arg341=)
dbSNP ExAC gnomAD v2 gnomAD v4

Number of alleles fetched