| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.23881975del | CA16041930 | LAMA3 | c.325del (p.Cys109AlafsTer?) c.5152del (p.Cys1718AlafsTer?) c.2044del (p.Cys682AlafsTer?) c.5179del (p.Cys1727AlafsTer?) c.5170del (p.Cys1724AlafsTer?) c.5161del (p.Cys1721AlafsTer?) c.5047del (p.Cys1683AlafsTer?) c.3031del (p.Cys1011AlafsTer?) c.721del (p.Cys241AlafsTer?) n.5420del | ClinVar dbSNP |
| 18 | g.23881975T= | CA2290314710 | LAMA3 | c.325T= (p.Cys109=) c.5152T= (p.Cys1718=) c.2044T= (p.Cys682=) c.5179T= (p.Cys1727=) c.5170T= (p.Cys1724=) c.5161T= (p.Cys1721=) c.5047T= (p.Cys1683=) c.3031T= (p.Cys1011=) c.721T= (p.Cys241=) n.5420T= | dbSNP dbSNP |