| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.67457677C>T | CA199750 | CABP4 | c.646C>T (p.Arg216Ter) c.331C>T (p.Arg111Ter) c.706C>T (p.Arg236Ter) c.562C>T (p.Arg188Ter) n.541C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.67457677C>A | CA6140299 | CABP4 | c.646C>A (p.Arg216=) c.331C>A (p.Arg111=) c.706C>A (p.Arg236=) c.562C>A (p.Arg188=) n.541C>A | dbSNP ExAC gnomAD v4 |