| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.55684996A>G | CA320987 | PNPT1 | c.350T>C (p.Leu117Pro) c.214T>C (p.Ter72Arg) c.110T>C (p.Leu37Pro) n.380T>C | dbSNP gnomAD v4 |
| 2 | g.55684996A= | CA1252408024 | PNPT1 | c.350T= (p.Leu117=) c.214T= (p.Ter72=) c.110T= (p.Leu37=) n.380T= | dbSNP |