| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.55672999G>C | CA346934380 | PNPT1 | c.760C>G (p.Gln254Glu) c.*315C>G (n.*315C>G) c.520C>G (p.Gln174Glu) n.790C>G | dbSNP gnomAD v4 |
| 2 | g.55672999G>A | CA1668348 | PNPT1 | c.760C>T (p.Gln254Ter) c.*315C>T (n.*315C>T) c.520C>T (p.Gln174Ter) n.790C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.55672999G>T | CA10586244 | PNPT1 | c.760C>A (p.Gln254Lys) c.*315C>A (n.*315C>A) c.520C>A (p.Gln174Lys) n.790C>A | ClinVar dbSNP gnomAD v4 |