Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.70605421C>TCA200231TEX11c.2047G>A (p.Ala683Thr)
c.2092G>A (p.Ala698Thr)
c.1117G>A (p.Ala373Thr)
c.1159G>A (p.Ala387Thr)
c.856G>A (p.Ala286Thr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.70605421C=CA2436171718TEX11c.2047G= (p.Ala683=)
c.2092G= (p.Ala698=)
c.1117G= (p.Ala373=)
c.1159G= (p.Ala387=)
c.856G= (p.Ala286=)
dbSNP

Number of alleles fetched