| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.143351678C>T | CA258028 | CLCN1 | c.2680C>T (p.Arg894Ter) c.2504C>T n.2620C>T c.2704C>T (p.Arg902Ter) c.1426C>T (p.Arg476Ter) c.2254C>T (p.Arg752Ter) c.2230C>T (p.Arg744Ter) n.2635C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.143351678C>A | CA168231465 | CLCN1 | c.2680C>A (p.Arg894=) c.2504C>A n.2620C>A c.2704C>A (p.Arg902=) c.1426C>A (p.Arg476=) c.2254C>A (p.Arg752=) c.2230C>A (p.Arg744=) n.2635C>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |