| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.29814424dup | CA622164917 | PRRT2 | c.971dup (p.Val325SerfsTer16) c.431dup (p.Val145SerfsTer?) c.*147dup (n.*147dup) c.816dup (p.Ser273GlufsTer13) c.*286dup (n.*286dup) c.813dup (p.Ser272GlufsTer13) c.420dup (p.Ser141GlufsTer13) c.*470dup (n.*470dup) c.971dup (p.Val325SerfsTer15) c.960dup (p.Ser321GlufsTer13) c.971dup (p.Val325SerfsTer?) c.971dup (p.Val325SerfsTer23) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.29814424del | CA317045 | PRRT2 | c.971del (p.Gly324GlufsTer13) c.431del (p.Gly144GlufsTer?) c.*147del (n.*147del) c.816del (p.Ser273ValfsTer17) c.*286del (n.*286del) c.813del (p.Ser272ValfsTer17) c.420del (p.Ser141ValfsTer17) c.*470del (n.*470del) c.960del (p.Ser321ValfsTer18) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |