| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.55654942T>C | CA320114 | PNPT1 | c.1453A>G (p.Met485Val) c.*1008A>G (n.*1008A>G) c.460A>G c.1213A>G (p.Met405Val) n.1483A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.55654942T>G | CA1668067 | PNPT1 | c.1453A>C (p.Met485Leu) c.*1008A>C (n.*1008A>C) c.460A>C c.1213A>C (p.Met405Leu) n.1483A>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.55654942T= | CA1252392364 | PNPT1 | c.1453A= (p.Met485=) c.*1008A= (n.*1008A=) c.460A= c.1213A= (p.Met405=) n.1483A= | dbSNP |