| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.4699752G>A | CA261110 | PRNP | c.532G>A (p.Asp178Asn) c.*221G>A (n.*221G>A) | ClinVar dbSNP gnomAD v4 |
| 20 | g.4699752G= | CA2347156594 | PRNP | c.532G= (p.Asp178=) c.*221G= (n.*221G=) | dbSNP |
| 20 | g.4699752G>T | CA408152567 | PRNP | c.532G>T (p.Asp178Tyr) c.*221G>T (n.*221G>T) | dbSNP gnomAD v4 |