| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.63654414T>C | CA156390 | PGM1 | c.1547T>C (p.Leu516Pro) c.1601T>C (p.Leu534Pro) n.581T>C c.956T>C (p.Leu319Pro) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.63654414T>G | CA340639619 | PGM1 | c.1547T>G (p.Leu516Arg) c.1601T>G (p.Leu534Arg) n.581T>G c.956T>G (p.Leu319Arg) | dbSNP |
| 1 | g.63654414T>A | CA340639618 | PGM1 | c.1547T>A (p.Leu516Gln) c.1601T>A (p.Leu534Gln) n.581T>A c.956T>A (p.Leu319Gln) | dbSNP gnomAD v4 |
| 1 | g.63654414T= | CA1148224362 | PGM1 | c.1547T= (p.Leu516=) c.1601T= (p.Leu534=) n.581T= c.956T= (p.Leu319=) | dbSNP |