| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 21 | g.14144655A>T | CA317638472 | LIPI | c.1006+18764T>A (n.1006+18764T>A) c.1245T>A (p.Ser415Arg) c.1173T>A (p.Ser391Arg) c.768T>A (p.Ser256Arg) c.*267T>A (n.*267T>A) c.1158T>A (p.Ser386Arg) c.1263T>A (p.Ser421Arg) c.1326T>A (p.Ser442Arg) c.1236T>A (p.Ser412Arg) c.1146T>A (p.Ser382Arg) c.1075+18782T>A (n.1075+18782T>A) c.1128T>A (p.Ser376Arg) | dbSNP |
| 21 | g.14144655A= | CA9979370 | LIPI | c.1006+18764T= (n.1006+18764T=) c.1245T= (p.Ser415=) c.1173T= (p.Ser391=) c.768T= (p.Ser256=) c.*267T= (n.*267T=) c.1158T= (p.Ser386=) c.1263T= (p.Ser421=) c.1326T= (p.Ser442=) c.1236T= (p.Ser412=) c.1146T= (p.Ser382=) c.1075+18782T= (n.1075+18782T=) c.1128T= (p.Ser376=) | ClinVar dbSNP |