| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.29813703del | CA261215 | PRRT2 | c.649del (p.Arg217GlufsTer12) c.339+310del (n.339+310del) n.105del c.357del (p.Glu120SerfsTer7) n.470del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 16 | g.29813702_29813703dup | CA7994561 | PRRT2 | c.648_649dup (p.Arg217ProfsTer13) c.339+309_339+310dup (n.339+309_339+310dup) n.104_105dup c.356_357dup (p.Glu120ProfsTer8) n.469_470dup | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
| 16 | g.29813703dup | CA180353 | PRRT2 | c.649dup (p.Arg217ProfsTer8) c.339+310dup (n.339+310dup) n.105dup c.357dup (p.Glu120ArgfsTer?) n.470dup | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |