| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.231265356G>C | CA345233245 | GNPAT | c.632G>C (p.Arg211Pro) c.*318G>C (n.*318G>C) c.602G>C (p.Arg201Pro) c.449G>C (p.Arg150Pro) c.629G>C (p.Arg210Pro) c.305G>C (p.Arg102Pro) | dbSNP gnomAD v4 |
| 1 | g.231265356G>A | CA118534 | GNPAT | c.632G>A (p.Arg211His) c.*318G>A (n.*318G>A) c.602G>A (p.Arg201His) c.449G>A (p.Arg150His) c.629G>A (p.Arg210His) c.305G>A (p.Arg102His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |