| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.53827533A>T | CA16041358 | PCDH15 | c.4263T>A (p.Cys1421Ter) c.4227T>A (p.Cys1409Ter) c.4248T>A (p.Cys1416Ter) c.3086T>A c.*2182T>A (n.*2182T>A) c.4242T>A (p.Cys1414Ter) c.4218T>A (p.Cys1406Ter) c.4107T>A (p.Cys1369Ter) c.4152T>A (p.Cys1384Ter) c.4230T>A (p.Cys1410Ter) c.1306-17987T>A (n.1306-17987T>A) c.1099-17987T>A (n.1099-17987T>A) c.2092-17987T>A (n.2092-17987T>A) c.3060T>A (p.Cys1020Ter) c.*307T>A (n.*307T>A) c.4014T>A (p.Cys1338Ter) n.1246T>A c.461+3782T>A (n.461+3782T>A) c.4266T>A (p.Cys1422Ter) c.4245T>A (p.Cys1415Ter) c.453T>A (p.Cys151Ter) c.4017T>A (p.Cys1339Ter) c.4161T>A (p.Cys1387Ter) n.5240T>A n.5231T>A | ClinVar dbSNP gnomAD v4 |
| 10 | g.53827533A= | CA1910750472 | PCDH15 | c.4263T= (p.Cys1421=) c.4227T= (p.Cys1409=) c.4248T= (p.Cys1416=) c.3086T= c.*2182T= (n.*2182T=) c.4242T= (p.Cys1414=) c.4218T= (p.Cys1406=) c.4107T= (p.Cys1369=) c.4152T= (p.Cys1384=) c.4230T= (p.Cys1410=) c.1306-17987T= (n.1306-17987T=) c.1099-17987T= (n.1099-17987T=) c.2092-17987T= (n.2092-17987T=) c.3060T= (p.Cys1020=) c.*307T= (n.*307T=) c.4014T= (p.Cys1338=) n.1246T= c.461+3782T= (n.461+3782T=) c.4266T= (p.Cys1422=) c.4245T= (p.Cys1415=) c.453T= (p.Cys151=) c.4017T= (p.Cys1339=) c.4161T= (p.Cys1387=) n.5240T= n.5231T= | dbSNP |