| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.32128479del | CA339148 | SPAST | c.*905del (n.*905del) c.1245del (p.Tyr415Ter) c.1242del (p.Tyr414Ter) c.983-8084del c.1146del (p.Tyr382Ter) c.1019del c.987del (p.Tyr329Ter) c.404del c.825del c.1121del c.891del (p.Tyr297Ter) n.1982del n.458del c.695del c.592del c.891del c.1149del (p.Tyr383Ter) n.937del c.745del | ClinVar dbSNP |
| 2 | g.32128479C= | CA1242498154 | SPAST | c.*905C= (n.*905C=) c.1245C= (p.Tyr415=) c.1242C= (p.Tyr414=) c.983-8084C= c.1146C= (p.Tyr382=) c.1019C= c.987C= (p.Tyr329=) c.404C= c.825C= c.1121C= c.891C= (p.Tyr297=) n.1982C= n.458C= c.695C= c.592C= c.891C= c.1149C= (p.Tyr383=) n.937C= c.745C= | dbSNP dbSNP |