| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.32137112C>A | CA1600899 | SPAST | c.*1077C>A (n.*1077C>A) c.1417C>A (p.Gln473Lys) c.1414C>A (p.Gln472Lys) c.1154C>A c.1318C>A (p.Gln440Lys) c.1191C>A c.1159C>A (p.Gln387Lys) c.484C>A c.997C>A c.1293C>A c.1063C>A (p.Gln355Lys) n.2154C>A c.867C>A c.596C>A c.1063C>A c.1321C>A (p.Gln441Lys) n.1109C>A c.917C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.32137112C>T | CA337296 | SPAST | c.*1077C>T (n.*1077C>T) c.1417C>T (p.Gln473Ter) c.1414C>T (p.Gln472Ter) c.1154C>T c.1318C>T (p.Gln440Ter) c.1191C>T c.1159C>T (p.Gln387Ter) c.484C>T c.997C>T c.1293C>T c.1063C>T (p.Gln355Ter) n.2154C>T c.867C>T c.596C>T c.1063C>T c.1321C>T (p.Gln441Ter) n.1109C>T c.917C>T | ClinVar dbSNP |
| 2 | g.32137112C= | CA1242501996 | SPAST | c.*1077C= (n.*1077C=) c.1417C= (p.Gln473=) c.1414C= (p.Gln472=) c.1154C= c.1318C= (p.Gln440=) c.1191C= c.1159C= (p.Gln387=) c.484C= c.997C= c.1293C= c.1063C= (p.Gln355=) n.2154C= c.867C= c.596C= c.1063C= c.1321C= (p.Gln441=) n.1109C= c.917C= | dbSNP |