| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.4699899C>T | CA266211 | PRNP | c.679C>T (p.Gln227Ter) c.*368C>T (n.*368C>T) | ClinVar dbSNP |
| 20 | g.4699899C>A | CA311093431 | PRNP | c.679C>A (p.Gln227Lys) c.*368C>A (n.*368C>A) | dbSNP |
| 20 | g.4699899C= | CA2347156661 | PRNP | c.679C= (p.Gln227=) c.*368C= (n.*368C=) | dbSNP |
| 20 | g.4699899C>G | CA408152887 | PRNP | c.679C>G (p.Gln227Glu) c.*368C>G (n.*368C>G) | dbSNP gnomAD v4 |