| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.32063962C>T | CA117669 | SPAST | c.131C>T (p.Ser44Leu) c.15C>T c.1C>T c.7C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.32063962C>A | CA346601409 | SPAST | c.131C>A (p.Ser44Ter) c.15C>A c.1C>A c.7C>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.32063962C= | CA1242461660 | SPAST | c.131C= (p.Ser44=) c.15C= c.1C= c.7C= | dbSNP |