| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.7125507C>T | CA124262 | INSR | c.3034G>A (p.Val1012Met) c.2998G>A (p.Val1000Met) c.3109G>A (p.Val1037Met) c.3073G>A (p.Val1025Met) c.3031G>A (p.Val1011Met) c.2995G>A (p.Val999Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.7125507C>G | CA403671447 | INSR | c.3034G>C (p.Val1012Leu) c.2998G>C (p.Val1000Leu) c.3109G>C (p.Val1037Leu) c.3073G>C (p.Val1025Leu) c.3031G>C (p.Val1011Leu) c.2995G>C (p.Val999Leu) | dbSNP |
| 19 | g.7125507C= | CA2320767994 | INSR | c.3034G= (p.Val1012=) c.2998G= (p.Val1000=) c.3109G= (p.Val1037=) c.3073G= (p.Val1025=) c.3031G= (p.Val1011=) c.2995G= (p.Val999=) | dbSNP |