| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.114679616T>C | CA341750051 | AMPD1 | c.848A>G (p.Lys283Arg) c.860A>G (p.Lys287Arg) c.643A>G (n.643A>G) n.525A>G c.947A>G (p.Lys316Arg) c.959A>G (p.Lys320Arg) | dbSNP gnomAD v4 |
| 1 | g.114679616T>A | CA145623 | AMPD1 | c.848A>T (p.Lys283Ile) c.860A>T (p.Lys287Ile) c.643A>T (n.643A>T) n.525A>T c.947A>T (p.Lys316Ile) c.959A>T (p.Lys320Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.114679616T= | CA1140524565 | AMPD1 | c.848A= (p.Lys283=) c.860A= (p.Lys287=) c.643A= (n.643A=) n.525A= c.947A= (p.Lys316=) c.959A= (p.Lys320=) | dbSNP |