| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.4699612G>A | CA408152247 | PRNP | c.392G>A (p.Gly131Glu) c.*81G>A (n.*81G>A) | ClinVar dbSNP |
| 20 | g.4699612G>T | CA256784 | PRNP | c.392G>T (p.Gly131Val) c.*81G>T (n.*81G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 20 | g.4699612G= | CA2347156526 | PRNP | c.392G= (p.Gly131=) c.*81G= (n.*81G=) | dbSNP |