| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.29814424G>C | CA317041 | PRRT2 | c.971G>C (p.Gly324Ala) c.431G>C (p.Gly144Ala) c.*147G>C (n.*147G>C) c.816G>C (p.Gly272=) c.*286G>C (n.*286G>C) c.813G>C (p.Gly271=) c.420G>C (p.Gly140=) c.*470G>C (n.*470G>C) c.960G>C (p.Gly320=) | ClinVar dbSNP |
| 16 | g.29814424G>T | CA395480743 | PRRT2 | c.971G>T (p.Gly324Val) c.431G>T (p.Gly144Val) c.*147G>T (n.*147G>T) c.816G>T (p.Gly272=) c.*286G>T (n.*286G>T) c.813G>T (p.Gly271=) c.420G>T (p.Gly140=) c.*470G>T (n.*470G>T) c.960G>T (p.Gly320=) | ClinVar dbSNP gnomAD v4 |
| 16 | g.29814424G>A | CA395480741 | PRRT2 | c.971G>A (p.Gly324Glu) c.431G>A (p.Gly144Glu) c.*147G>A (n.*147G>A) c.816G>A (p.Gly272=) c.*286G>A (n.*286G>A) c.813G>A (p.Gly271=) c.420G>A (p.Gly140=) c.*470G>A (n.*470G>A) c.960G>A (p.Gly320=) | ClinVar dbSNP |