| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.32116199C>T | CA346499847 | SPAST | c.*745C>T (n.*745C>T) c.1085C>T (p.Ser362Phe) c.1082C>T (p.Ser361Phe) c.969C>T c.986C>T (p.Ser329Phe) c.859C>T c.827C>T (p.Ser276Phe) c.244C>T c.665C>T c.961C>T c.731C>T (p.Ser244Phe) c.535C>T c.432C>T c.731C>T c.989C>T (p.Ser330Phe) n.777C>T c.660C>T | ClinVar dbSNP |
| 2 | g.32116199C>G | CA253546 | SPAST | c.*745C>G (n.*745C>G) c.1085C>G (p.Ser362Cys) c.1082C>G (p.Ser361Cys) c.969C>G c.986C>G (p.Ser329Cys) c.859C>G c.827C>G (p.Ser276Cys) c.244C>G c.665C>G c.961C>G c.731C>G (p.Ser244Cys) c.535C>G c.432C>G c.731C>G c.989C>G (p.Ser330Cys) n.777C>G c.660C>G | ClinVar dbSNP |
| 2 | g.32116199C= | CA1242492115 | SPAST | c.*745C= (n.*745C=) c.1085C= (p.Ser362=) c.1082C= (p.Ser361=) c.969C= c.986C= (p.Ser329=) c.859C= c.827C= (p.Ser276=) c.244C= c.665C= c.961C= c.731C= (p.Ser244=) c.535C= c.432C= c.731C= c.989C= (p.Ser330=) n.777C= c.660C= | dbSNP |