Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.139561820C>GCA414446108F9c.1135C>G (p.Arg379Gly)
n.1723+79C>G
c.1021C>G (p.Arg341Gly)
c.1006C>G (p.Arg336Gly)
dbSNP gnomAD v2
Xg.139561820C>ACA518917075F9c.1135C>A (p.Arg379=)
n.1723+79C>A
c.1021C>A (p.Arg341=)
c.1006C>A (p.Arg336=)
ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.139561820C>TCA255391F9c.1135C>T (p.Arg379Ter)
n.1723+79C>T
c.1021C>T (p.Arg341Ter)
c.1006C>T (p.Arg336Ter)
ClinVar dbSNP
Xg.139561820C=CA2461412189F9c.1135C= (p.Arg379=)
n.1723+79C=
c.1021C= (p.Arg341=)
c.1006C= (p.Arg336=)
dbSNP

Number of alleles fetched