| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.32128443del | CA16603261 | SPAST | c.*869del (n.*869del) c.1209del (p.Phe404LeufsTer3) c.1206del (p.Phe403LeufsTer3) c.983-8120del c.1110del (p.Phe371LeufsTer3) c.983del c.951del (p.Phe318LeufsTer3) c.368del c.789del c.1085del c.855del (p.Phe286LeufsTer3) n.1946del n.422del c.659del c.556del c.855del c.1113del (p.Phe372LeufsTer3) n.901del c.709del | ClinVar dbSNP |
| 2 | g.32128443C= | CA1242498130 | SPAST | c.*869C= (n.*869C=) c.1209C= (p.Phe403=) c.1206C= (p.Phe402=) c.983-8120C= c.1110C= (p.Phe370=) c.983C= c.951C= (p.Phe317=) c.368C= c.789C= c.1085C= c.855C= (p.Phe285=) n.1946C= n.422C= c.659C= c.556C= c.855C= c.1113C= (p.Phe371=) n.901C= c.709C= | dbSNP dbSNP |