| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.87253472C>T | CA224975 | CHMP2B | c.493C>T (p.Gln165Ter) c.541C>T (p.Gln181Ter) n.4157C>T n.4242C>T n.424C>T c.370C>T (p.Gln124Ter) c.403C>T (p.Gln135Ter) | ClinVar dbSNP |
| 3 | g.87253472C= | CA1381558072 | CHMP2B | c.493C= (p.Gln165=) c.541C= (p.Gln181=) n.4157C= n.4242C= n.424C= c.370C= (p.Gln124=) c.403C= (p.Gln135=) | dbSNP |