| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.11016874C>G | CA586344 | TARDBP | c.269C>G (p.Ala90Gly) c.239-1859C>G (n.239-1859C>G) c.*158C>G (n.*158C>G) c.392C>G (p.Ala131Gly) n.371C>G c.10C>G c.16C>G n.391C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.11016874C>T | CA586343 | TARDBP | c.269C>T (p.Ala90Val) c.239-1859C>T (n.239-1859C>T) c.*158C>T (n.*158C>T) c.392C>T (p.Ala131Val) n.371C>T c.10C>T c.16C>T n.391C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |