| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.55673071C>G | CA323779 | PNPT1 | c.688G>C (p.Glu230Gln) c.*243G>C (n.*243G>C) c.448G>C (p.Glu150Gln) n.718G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.55673071C>T | CA346934790 | PNPT1 | c.688G>A (p.Glu230Lys) c.*243G>A (n.*243G>A) c.448G>A (p.Glu150Lys) n.718G>A | dbSNP gnomAD v3 gnomAD v4 |