| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.63629539G>C | CA130545 | PGM1 | c.361G>C (p.Gly121Arg) c.415G>C (p.Gly139Arg) c.-231G>C (n.-231G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.63629539G>A | CA340646148 | PGM1 | c.361G>A (p.Gly121Arg) c.415G>A (p.Gly139Arg) c.-231G>A (n.-231G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.63629539G>T | CA889515 | PGM1 | c.361G>T (p.Gly121Trp) c.415G>T (p.Gly139Trp) c.-231G>T (n.-231G>T) | dbSNP ExAC gnomAD v2 |