| 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 |
