| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.4699875G>A | CA123094 | PRNP | c.655G>A (p.Glu219Lys) c.*344G>A (n.*344G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.4699875G>T | CA408152834 | PRNP | c.655G>T (p.Glu219Ter) c.*344G>T (n.*344G>T) | dbSNP |
| 20 | g.4699875G= | CA2347156651 | PRNP | c.655G= (p.Glu219=) c.*344G= (n.*344G=) | dbSNP |