| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.17506246C>T | CA8417709 | PEMT | c.634G>A (p.Val212Met) c.665G>A (p.Ser222Asn) c.523G>A (p.Val175Met) c.602G>A (p.Ser201Asn) n.128G>A n.498G>A n.368G>A c.*132G>A (n.*132G>A) n.78G>A c.568G>A (p.Val190Met) c.571G>A (p.Val191Met) c.301G>A (p.Val101Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.17506246C= | CA2250570585 | PEMT | c.634G= (p.Val212=) c.665G= (p.Ser222=) c.523G= (p.Val175=) c.602G= (p.Ser201=) n.128G= n.498G= n.368G= c.*132G= (n.*132G=) n.78G= c.568G= (p.Val190=) c.571G= (p.Val191=) c.301G= (p.Val101=) | dbSNP |