| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.32063958G>C | CA1600497 | SPAST | c.127G>C (p.Glu43Gln) c.11G>C c.3G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.32063958G>T | CA16610962 | SPAST | c.127G>T (p.Glu43Ter) c.11G>T c.3G>T | ClinVar dbSNP |
| 2 | g.32063958G= | CA1242461656 | SPAST | c.127G= (p.Glu43=) c.11G= c.3G= | dbSNP |