| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.6610267G>C | CA372898347 | GLDC | c.560C>G (p.Thr187Arg) c.155C>G (p.Thr52Arg) n.260C>G c.266C>G (p.Thr89Arg) n.268C>G n.443C>G | ClinVar dbSNP gnomAD v2 |
| 9 | g.6610267G>A | CA372898346 | GLDC | c.560C>T (p.Thr187Ile) c.155C>T (p.Thr52Ile) n.260C>T c.266C>T (p.Thr89Ile) n.268C>T n.443C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 9 | g.6610267G>T | CA263429 | GLDC | c.560C>A (p.Thr187Lys) c.155C>A (p.Thr52Lys) n.260C>A c.266C>A (p.Thr89Lys) n.268C>A n.443C>A | ClinVar dbSNP gnomAD v2 |