| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.40089417G>A | CA16040728 | PPT1 | c.*365C>T (n.*365C>T) c.526C>T (p.Gln176Ter) c.529C>T (p.Gln177Ter) c.220C>T (p.Gln74Ter) c.305+1912C>T (n.305+1912C>T) c.*152C>T (n.*152C>T) c.507C>T n.766C>T c.141C>T c.616C>T (p.Gln206Ter) c.*381C>T (n.*381C>T) c.124+7698C>T (n.124+7698C>T) c.214C>T (p.Gln72Ter) c.304C>T (p.Gln102Ter) | ClinVar dbSNP gnomAD v4 COSMIC |
| 1 | g.40089417G>C | CA263516 | PPT1 | c.*365C>G (n.*365C>G) c.526C>G (p.Gln176Glu) c.529C>G (p.Gln177Glu) c.220C>G (p.Gln74Glu) c.305+1912C>G (n.305+1912C>G) c.*152C>G (n.*152C>G) c.507C>G n.766C>G c.141C>G c.616C>G (p.Gln206Glu) c.*381C>G (n.*381C>G) c.124+7698C>G (n.124+7698C>G) c.214C>G (p.Gln72Glu) c.304C>G (p.Gln102Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |