| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.4699534C>T | CA204782 | PRNP | c.314C>T (p.Pro105Leu) c.*3C>T (n.*3C>T) | ClinVar dbSNP |
| 20 | g.4699534C>A | CA311093309 | PRNP | c.314C>A (p.Pro105Gln) c.*3C>A (n.*3C>A) | dbSNP gnomAD v4 COSMIC |
| 20 | g.4699534C= | CA2347156496 | PRNP | c.314C= (p.Pro105=) c.*3C= (n.*3C=) | dbSNP |