| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.81934670C>A | CA122952 | PYCR1 | c.616G>T (p.Gly206Trp) c.697G>T (p.Gly233Trp) c.541-181G>T (n.541-181G>T) c.526G>T (p.Gly176Trp) c.501+256G>T (n.501+256G>T) | ClinVar dbSNP gnomAD v4 |
| 17 | g.81934670C>T | CA219960 | PYCR1 | c.616G>A (p.Gly206Arg) c.697G>A (p.Gly233Arg) c.541-181G>A (n.541-181G>A) c.526G>A (p.Gly176Arg) c.501+256G>A (n.501+256G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |