| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.114677465C>T | CA128025 | AMPD1 | c.1262G>A (p.Arg421His) c.1274G>A (p.Arg425His) c.1057G>A (n.1057G>A) n.939G>A c.1361G>A (p.Arg454His) c.1373G>A (p.Arg458His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.114677465C>G | CA341748661 | AMPD1 | c.1262G>C (p.Arg421Pro) c.1274G>C (p.Arg425Pro) c.1057G>C (n.1057G>C) n.939G>C c.1361G>C (p.Arg454Pro) c.1373G>C (p.Arg458Pro) | dbSNP gnomAD v2 gnomAD v4 |