| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.32144996G>A | CA349419 | SPAST | c.*1336G>A (n.*1336G>A) c.1676G>A (p.Gly559Asp) c.1673G>A (p.Gly558Asp) c.1413G>A c.1577G>A (p.Gly526Asp) c.1390+1581G>A c.1418G>A (p.Gly473Asp) c.1256G>A c.1552G>A c.1322G>A (p.Gly441Asp) n.2413G>A c.1066+1581G>A c.855G>A c.1322G>A c.1580G>A (p.Gly527Asp) n.1368G>A c.1176G>A c.1616+1581G>A (n.1616+1581G>A) c.1520+1581G>A (n.1520+1581G>A) | ClinVar dbSNP gnomAD v4 |
| 2 | g.32144996G= | CA1242505906 | SPAST | c.*1336G= (n.*1336G=) c.1676G= (p.Gly559=) c.1673G= (p.Gly558=) c.1413G= c.1577G= (p.Gly526=) c.1390+1581G= c.1418G= (p.Gly473=) c.1256G= c.1552G= c.1322G= (p.Gly441=) n.2413G= c.1066+1581G= c.855G= c.1322G= c.1580G= (p.Gly527=) n.1368G= c.1176G= c.1616+1581G= (n.1616+1581G=) c.1520+1581G= (n.1520+1581G=) | dbSNP |
| 2 | g.32144996G>C | CA346504274 | SPAST | c.*1336G>C (n.*1336G>C) c.1676G>C (p.Gly559Ala) c.1673G>C (p.Gly558Ala) c.1413G>C c.1577G>C (p.Gly526Ala) c.1390+1581G>C c.1418G>C (p.Gly473Ala) c.1256G>C c.1552G>C c.1322G>C (p.Gly441Ala) n.2413G>C c.1066+1581G>C c.855G>C c.1322G>C c.1580G>C (p.Gly527Ala) n.1368G>C c.1176G>C c.1616+1581G>C (n.1616+1581G>C) c.1520+1581G>C (n.1520+1581G>C) | dbSNP gnomAD v4 |