| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.81934326C>G | CA401536864 | PYCR1 | c.797G>C (p.Arg266Pro) c.878G>C (p.Arg293Pro) c.704G>C (p.Arg235Pro) c.633+327G>C (n.633+327G>C) c.707G>C (p.Arg236Pro) c.501+600G>C (n.501+600G>C) c.714+327G>C (n.714+327G>C) | dbSNP gnomAD v2 |
| 17 | g.81934326C>T | CA122950 | PYCR1 | c.797G>A (p.Arg266Gln) c.878G>A (p.Arg293Gln) c.704G>A (p.Arg235Gln) c.633+327G>A (n.633+327G>A) c.707G>A (p.Arg236Gln) c.501+600G>A (n.501+600G>A) c.714+327G>A (n.714+327G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |