| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.128254539G>A | CA4469685 | LEP | c.280G>A (p.Val94Met) c.277G>A (p.Val93Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.128254539G>C | CA369443864 | LEP | c.280G>C (p.Val94Leu) c.277G>C (p.Val93Leu) | dbSNP |
| 7 | g.128254539G= | CA1742271676 | LEP | c.280G= (p.Val94=) c.277G= (p.Val93=) | dbSNP |