| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.114684278C>A | CA202973 | AMPD1 | c.456G>T (p.Gln152His) c.468G>T (p.Gln156His) c.471G>T (p.Gln157His) n.133G>T c.555G>T (p.Gln185His) n.342G>T c.567G>T (p.Gln189His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.114684278C= | CA1141689258 | AMPD1 | c.456G= (p.Gln152=) c.468G= (p.Gln156=) c.471G= (p.Gln157=) n.133G= c.555G= (p.Gln185=) n.342G= c.567G= (p.Gln189=) | dbSNP |