| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.17522317C>A | CA398543925 | PEMT | c.283G>T (p.Val95Phe) c.172G>T (p.Val58Phe) n.307G>T c.217G>T (p.Val73Phe) c.*45G>T (n.*45G>T) n.216-9663G>T c.205-12772G>T (n.205-12772G>T) c.220G>T (p.Val74Phe) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.17522317C>G | CA288356295 | PEMT | c.283G>C (p.Val95Leu) c.172G>C (p.Val58Leu) n.307G>C c.217G>C (p.Val73Leu) c.*45G>C (n.*45G>C) n.216-9663G>C c.205-12772G>C (n.205-12772G>C) c.220G>C (p.Val74Leu) | dbSNP |
| 17 | g.17522317C>T | CA8417849 | PEMT | c.283G>A (p.Val95Ile) c.172G>A (p.Val58Ile) n.307G>A c.217G>A (p.Val73Ile) c.*45G>A (n.*45G>A) n.216-9663G>A c.205-12772G>A (n.205-12772G>A) c.220G>A (p.Val74Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |