| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.81935111G>C | CA122954 | PYCR1 | c.355C>G (p.Arg119Gly) c.436C>G (p.Arg146Gly) c.172C>G (p.Arg58Gly) c.265C>G (p.Arg89Gly) c.316C>G (p.Arg106Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.81935111G>A | CA8845460 | PYCR1 | c.355C>T (p.Arg119Cys) c.436C>T (p.Arg146Cys) c.172C>T (p.Arg58Cys) c.265C>T (p.Arg89Cys) c.316C>T (p.Arg106Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |