| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.74045278A>T | CA281042 | ELN | c.526A>T (p.Lys176Ter) c.490A>T (p.Lys164Ter) c.541A>T (p.Lys181Ter) c.233-910A>T (n.233-910A>T) c.496A>T (p.Lys166Ter) c.511A>T (p.Lys171Ter) c.469+1358A>T (n.469+1358A>T) c.326-1418A>T (n.326-1418A>T) c.197-1418A>T (n.197-1418A>T) c.428-910A>T (n.428-910A>T) n.505A>T c.439+1358A>T (n.439+1358A>T) c.505A>T (p.Lys169Ter) c.475A>T (p.Lys159Ter) c.460A>T (p.Lys154Ter) | ClinVar dbSNP |
| 7 | g.74045278A= | CA1717340187 | ELN | c.526A= (p.Lys176=) c.490A= (p.Lys164=) c.541A= (p.Lys181=) c.233-910A= (n.233-910A=) c.496A= (p.Lys166=) c.511A= (p.Lys171=) c.469+1358A= (n.469+1358A=) c.326-1418A= (n.326-1418A=) c.197-1418A= (n.197-1418A=) c.428-910A= (n.428-910A=) n.505A= c.439+1358A= (n.439+1358A=) c.505A= (p.Lys169=) c.475A= (p.Lys159=) c.460A= (p.Lys154=) | dbSNP |