| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.29813683del | CA130521 | PRRT2 | c.629del (p.Pro210GlnfsTer19) c.339+290del (n.339+290del) n.88-3del c.340-3del (n.340-3del) n.453-3del | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 16 | g.29813683dup | CA129725 | PRRT2 | c.629dup (p.Ala211SerfsTer14) c.339+290dup (n.339+290dup) n.88-3dup c.340-3dup (n.340-3dup) n.453-3dup | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |