| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.23898812dup | CA16041932 | LAMA3 | c.861dup (p.Asp288Ter) c.5688dup (p.Asp1897Ter) c.2580dup (p.Asp861Ter) n.76dup c.466dup n.266dup c.5715dup (p.Asp1906Ter) c.5706dup (p.Asp1903Ter) c.5697dup (p.Asp1900Ter) c.5583dup (p.Asp1862Ter) c.3567dup (p.Asp1190Ter) c.1257dup (p.Asp420Ter) n.5956dup | ClinVar dbSNP |
| 18 | g.23898812T= | CA3229117679 | LAMA3 | c.861T= (p.Thr287=) c.5688T= (p.Thr1896=) c.2580T= (p.Thr860=) n.76T= c.466T= n.266T= c.5715T= (p.Thr1905=) c.5706T= (p.Thr1902=) c.5697T= (p.Thr1899=) c.5583T= (p.Thr1861=) c.3567T= (p.Thr1189=) c.1257T= (p.Thr419=) n.5956T= | dbSNP |