| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.43800845C>T | CA10586241 | DYNC2LI1 | c.659C>T (p.Thr220Ile) c.610C>T n.615C>T c.662C>T (p.Thr221Ile) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.43800845C= | CA2493921878 | DYNC2LI1 | c.659C= (p.Thr220=) c.610C= n.615C= c.662C= (p.Thr221=) | dbSNP |