| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.32116145T>C | CA346499654 | SPAST | c.*691T>C (n.*691T>C) c.1031T>C (p.Ile344Thr) c.1028T>C (p.Ile343Thr) c.915T>C c.932T>C (p.Ile311Thr) c.805T>C c.773T>C (p.Ile258Thr) c.190T>C c.611T>C c.907T>C c.677T>C (p.Ile226Thr) c.481T>C c.378T>C c.677T>C c.935T>C (p.Ile312Thr) n.723T>C c.606T>C | ClinVar dbSNP gnomAD v4 |
| 2 | g.32116145T>A | CA253560 | SPAST | c.*691T>A (n.*691T>A) c.1031T>A (p.Ile344Lys) c.1028T>A (p.Ile343Lys) c.915T>A c.932T>A (p.Ile311Lys) c.805T>A c.773T>A (p.Ile258Lys) c.190T>A c.611T>A c.907T>A c.677T>A (p.Ile226Lys) c.481T>A c.378T>A c.677T>A c.935T>A (p.Ile312Lys) n.723T>A c.606T>A | ClinVar dbSNP |
| 2 | g.32116145T>G | CA346499655 | SPAST | c.*691T>G (n.*691T>G) c.1031T>G (p.Ile344Arg) c.1028T>G (p.Ile343Arg) c.915T>G c.932T>G (p.Ile311Arg) c.805T>G c.773T>G (p.Ile258Arg) c.190T>G c.611T>G c.907T>G c.677T>G (p.Ile226Arg) c.481T>G c.378T>G c.677T>G c.935T>G (p.Ile312Arg) n.723T>G c.606T>G | ClinVar dbSNP |
| 2 | g.32116145T= | CA1242492087 | SPAST | c.*691T= (n.*691T=) c.1031T= (p.Ile344=) c.1028T= (p.Ile343=) c.915T= c.932T= (p.Ile311=) c.805T= c.773T= (p.Ile258=) c.190T= c.611T= c.907T= c.677T= (p.Ile226=) c.481T= c.378T= c.677T= c.935T= (p.Ile312=) n.723T= c.606T= | dbSNP |