| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.55656148T>C | CA130567 | PNPT1 | c.1424A>G (p.Glu475Gly) c.*979A>G (n.*979A>G) c.431A>G c.1184A>G (p.Glu395Gly) n.1454A>G | ClinVar dbSNP |
| 2 | g.55656148T= | CA1252392928 | PNPT1 | c.1424A= (p.Glu475=) c.*979A= (n.*979A=) c.431A= c.1184A= (p.Glu395=) n.1454A= | dbSNP |