| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.143934923G>A | CA249458 | PLEC | c.964C>T (p.Gln322Ter) c.883C>T (p.Gln295Ter) c.550C>T (p.Gln184Ter) c.763C>T (p.Gln255Ter) c.832C>T (p.Gln278Ter) c.913C>T (p.Gln305Ter) c.1243C>T (p.Gln415Ter) c.766C>T (p.Gln256Ter) c.790C>T (p.Gln264Ter) c.844C>T (p.Gln282Ter) c.736C>T (p.Gln246Ter) c.901C>T (p.Gln301Ter) c.1258C>T (p.Gln420Ter) c.859C>T (p.Gln287Ter) c.847C>T (p.Gln283Ter) c.805C>T (p.Gln269Ter) c.781C>T (p.Gln261Ter) c.751C>T (p.Gln251Ter) c.928C>T (p.Gln310Ter) c.778C>T (p.Gln260Ter) | ClinVar dbSNP |
| 8 | g.143934923G= | CA1826052359 | PLEC | c.964C= (p.Gln322=) c.883C= (p.Gln295=) c.550C= (p.Gln184=) c.763C= (p.Gln255=) c.832C= (p.Gln278=) c.913C= (p.Gln305=) c.1243C= (p.Gln415=) c.766C= (p.Gln256=) c.790C= (p.Gln264=) c.844C= (p.Gln282=) c.736C= (p.Gln246=) c.901C= (p.Gln301=) c.1258C= (p.Gln420=) c.859C= (p.Gln287=) c.847C= (p.Gln283=) c.805C= (p.Gln269=) c.781C= (p.Gln261=) c.751C= (p.Gln251=) c.928C= (p.Gln310=) c.778C= (p.Gln260=) | dbSNP |