| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.87253421G>T | CA224974 | CHMP2B | c.442G>T (p.Asp148Tyr) c.490G>T (p.Asp164Tyr) n.4106G>T n.4191G>T n.373G>T c.319G>T (p.Asp107Tyr) c.352G>T (p.Asp118Tyr) | ClinVar dbSNP gnomAD v4 |
| 3 | g.87253421G= | CA1381558030 | CHMP2B | c.442G= (p.Asp148=) c.490G= (p.Asp164=) n.4106G= n.4191G= n.373G= c.319G= (p.Asp107=) c.352G= (p.Asp118=) | dbSNP |