| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.8371280C>T | CA9156095 | ANGPTL4,ELAVL1 | c.797C>T (p.Thr266Met) c.-88+73726G>A (n.-88+73726G>A) c.683C>T (p.Thr228Met) c.354-2913C>T c.*340C>T (n.*340C>T) n.625-2913C>T n.597-2913C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.8371280C= | CA2321386951 | ANGPTL4,ELAVL1 | c.797C= (p.Thr266=) c.-88+73726G= (n.-88+73726G=) c.683C= (p.Thr228=) c.354-2913C= c.*340C= (n.*340C=) n.625-2913C= n.597-2913C= | dbSNP |