| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.96809338C>T | CA115784 | CNNM4 | c.2149C>T (p.Gln717Ter) c.2212C>T (p.Gln738Ter) c.2237C>T (p.Pro746Leu) c.610C>T (p.Gln204Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.96809338C= | CA1272775177 | CNNM4 | c.2149C= (p.Gln717=) c.2212C= (p.Gln738=) c.2237C= (p.Pro746=) c.610C= (p.Gln204=) | dbSNP |