| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.114678495C>A | CA145616 | AMPD1 | c.918G>T (p.Met306Ile) c.930G>T (p.Met310Ile) c.713G>T (n.713G>T) n.595G>T c.1017G>T (p.Met339Ile) c.1029G>T (p.Met343Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.114678495C= | CA1140726232 | AMPD1 | c.918G= (p.Met306=) c.930G= (p.Met310=) c.713G= (n.713G=) n.595G= c.1017G= (p.Met339=) c.1029G= (p.Met343=) | dbSNP |