| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.114688633G>A | CA1020547 | AMPD1 | c.131C>T (p.Pro44Leu) c.143C>T (p.Pro48Leu) c.146C>T (p.Pro49Leu) c.230C>T (p.Pro77Leu) c.242C>T (p.Pro81Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.114688633G>C | CA341733858 | AMPD1 | c.131C>G (p.Pro44Arg) c.143C>G (p.Pro48Arg) c.146C>G (p.Pro49Arg) c.230C>G (p.Pro77Arg) c.242C>G (p.Pro81Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.114688633G= | CA1140726233 | AMPD1 | c.131C= (p.Pro44=) c.143C= (p.Pro48=) c.146C= (p.Pro49=) c.230C= (p.Pro77=) c.242C= (p.Pro81=) | dbSNP |