Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.139561821G>TCA414446112F9c.1136G>T (p.Arg379Leu)
n.1723+80G>T
c.1022G>T (p.Arg341Leu)
c.1007G>T (p.Arg336Leu)
dbSNP
Xg.139561821G>ACA255394F9c.1136G>A (p.Arg379Gln)
n.1723+80G>A
c.1022G>A (p.Arg341Gln)
c.1007G>A (p.Arg336Gln)
ClinVar dbSNP gnomAD v4 COSMIC

Number of alleles fetched