| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.34378971C>T | CA123318 | GPI | c.671C>T (p.Thr224Met) c.788C>T (p.Thr263Met) c.559C>T c.704C>T (p.Thr235Met) c.440C>T (p.Thr147Met) n.1181C>T c.716C>T (p.Thr239Met) c.587C>T (p.Thr196Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.34378971C= | CA2333167646 | GPI | c.671C= (p.Thr224=) c.788C= (p.Thr263=) c.559C= c.704C= (p.Thr235=) c.440C= (p.Thr147=) n.1181C= c.716C= (p.Thr239=) c.587C= (p.Thr196=) | dbSNP |