| 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 |
| 1 | g.114677465C>A | CA341748659 | AMPD1 | c.1262G>T (p.Arg421Leu) c.1274G>T (p.Arg425Leu) c.1057G>T (n.1057G>T) n.939G>T c.1361G>T (p.Arg454Leu) c.1373G>T (p.Arg458Leu) | dbSNP COSMIC COSMIC |
| 1 | g.114677465C= | CA1141580998 | AMPD1 | c.1262G= (p.Arg421=) c.1274G= (p.Arg425=) c.1057G= (n.1057G=) n.939G= c.1361G= (p.Arg454=) c.1373G= (p.Arg458=) | dbSNP |