Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.88643568C>T | CA115464 | CYBA | c.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 |
16 | g.88643568C>A | CA397058161 | CYBA | c.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 |