| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.4699915T>G | CA256783 | PRNP | c.695T>G (p.Met232Arg) c.*384T>G (n.*384T>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.4699915T>C | CA408152923 | PRNP | c.695T>C (p.Met232Thr) c.*384T>C (n.*384T>C) | dbSNP gnomAD v4 |
| 20 | g.4699915T= | CA2347156670 | PRNP | c.695T= (p.Met232=) c.*384T= (n.*384T=) | dbSNP |