| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.32136608C>T | CA334245 | SPAST | c.*951C>T (n.*951C>T) c.1291C>T (p.Arg431Ter) c.1288C>T (p.Arg430Ter) c.1028C>T c.1192C>T (p.Arg398Ter) c.1065C>T c.1033C>T (p.Arg345Ter) c.450C>T c.871C>T c.1167C>T c.937C>T (p.Arg313Ter) n.2028C>T c.741C>T c.593-501C>T c.937C>T c.1195C>T (p.Arg399Ter) n.983C>T c.791C>T | ClinVar dbSNP gnomAD v4 |
| 2 | g.32136608C= | CA1242501213 | SPAST | c.*951C= (n.*951C=) c.1291C= (p.Arg431=) c.1288C= (p.Arg430=) c.1028C= c.1192C= (p.Arg398=) c.1065C= c.1033C= (p.Arg345=) c.450C= c.871C= c.1167C= c.937C= (p.Arg313=) n.2028C= c.741C= c.593-501C= c.937C= c.1195C= (p.Arg399=) n.983C= c.791C= | dbSNP dbSNP dbSNP |