| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.114677972G>A | CA128024 | AMPD1 | c.1150C>T (p.Arg384Trp) c.1162C>T (p.Arg388Trp) c.945C>T (n.945C>T) n.827C>T c.1249C>T (p.Arg417Trp) c.1261C>T (p.Arg421Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.114677972G= | CA1140594123 | AMPD1 | c.1150C= (p.Arg384=) c.1162C= (p.Arg388=) c.945C= (n.945C=) n.827C= c.1249C= (p.Arg417=) c.1261C= (p.Arg421=) | dbSNP |