| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.102000305A>C | CA16619824 | DYNC1H1 | c.3980A>C (p.Gln1327Pro) n.4099A>C c.*3489A>C (n.*3489A>C) c.*503A>C (n.*503A>C) c.*3711A>C (n.*3711A>C) | ClinVar dbSNP |
| 14 | g.102000305A>G | CA7352145 | DYNC1H1 | c.3980A>G (p.Gln1327Arg) n.4099A>G c.*3489A>G (n.*3489A>G) c.*503A>G (n.*503A>G) c.*3711A>G (n.*3711A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |