Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.88643568C>TCA115464CYBAc.383G>A (p.Gly128Asp)
c.289G>A (p.Ala97Thr)
c.*590G>A (n.*590G>A)
c.*627G>A (n.*627G>A)
c.*296G>A (n.*296G>A)
c.400G>A (p.Ala134Thr)
c.503G>A (p.Gly168Asp)
c.*1092G>A (n.*1092G>A)
c.322G>A (p.Ala108Thr)
c.373G>A (p.Ala125Thr)
c.167G>A
c.362G>A (p.Gly121Asp)
n.952G>A
ClinVar dbSNP gnomAD v4
16g.88643568C>ACA397058161CYBAc.383G>T (p.Gly128Val)
c.289G>T (p.Ala97Ser)
c.*590G>T (n.*590G>T)
c.*627G>T (n.*627G>T)
c.*296G>T (n.*296G>T)
c.400G>T (p.Ala134Ser)
c.503G>T (p.Gly168Val)
c.*1092G>T (n.*1092G>T)
c.322G>T (p.Ala108Ser)
c.373G>T (p.Ala125Ser)
c.167G>T
c.362G>T (p.Gly121Val)
n.952G>T
dbSNP gnomAD v2 gnomAD v4

Number of alleles fetched