Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.139562054A>TCA255424F9c.1369A>T (p.Lys457Ter)
n.1723+313A>T
c.1255A>T (p.Lys419Ter)
c.1240A>T (p.Lys414Ter)
ClinVar dbSNP
Xg.139562054A>GCA414447601F9c.1369A>G (p.Lys457Glu)
n.1723+313A>G
c.1255A>G (p.Lys419Glu)
c.1240A>G (p.Lys414Glu)
dbSNP gnomAD v4
Xg.139562054A=CA2461412311F9c.1369A= (p.Lys457=)
n.1723+313A=
c.1255A= (p.Lys419=)
c.1240A= (p.Lys414=)
dbSNP

Number of alleles fetched