| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.32116180G>A | CA16043827 | SPAST | c.*726G>A (n.*726G>A) c.1066G>A (p.Glu356Lys) c.1063G>A (p.Glu355Lys) c.950G>A c.967G>A (p.Glu323Lys) c.840G>A c.808G>A (p.Glu270Lys) c.225G>A c.646G>A c.942G>A c.712G>A (p.Glu238Lys) c.516G>A c.413G>A c.712G>A c.970G>A (p.Glu324Lys) n.758G>A c.641G>A | ClinVar dbSNP |
| 2 | g.32116180G= | CA1242492106 | SPAST | c.*726G= (n.*726G=) c.1066G= (p.Glu356=) c.1063G= (p.Glu355=) c.950G= c.967G= (p.Glu323=) c.840G= c.808G= (p.Glu270=) c.225G= c.646G= c.942G= c.712G= (p.Glu238=) c.516G= c.413G= c.712G= c.970G= (p.Glu324=) n.758G= c.641G= | dbSNP |
| 2 | g.32116180G>T | CA346499778 | SPAST | c.*726G>T (n.*726G>T) c.1066G>T (p.Glu356Ter) c.1063G>T (p.Glu355Ter) c.950G>T c.967G>T (p.Glu323Ter) c.840G>T c.808G>T (p.Glu270Ter) c.225G>T c.646G>T c.942G>T c.712G>T (p.Glu238Ter) c.516G>T c.413G>T c.712G>T c.970G>T (p.Glu324Ter) n.758G>T c.641G>T | ClinVar dbSNP |