| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.100293039C>A | CA5158690 | INVS | c.2782C>A (p.Arg928=) c.2272C>A (p.Arg758=) n.3091C>A c.2494C>A (p.Arg832=) c.2461C>A (p.Arg821=) c.1984C>A (p.Arg662=) c.1804C>A (p.Arg602=) n.2965C>A n.2989C>A n.2479C>A n.2931C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.100293039C>T | CA5158689 | INVS | c.2782C>T (p.Arg928Ter) c.2272C>T (p.Arg758Ter) n.3091C>T c.2494C>T (p.Arg832Ter) c.2461C>T (p.Arg821Ter) c.1984C>T (p.Arg662Ter) c.1804C>T (p.Arg602Ter) n.2965C>T n.2989C>T n.2479C>T n.2931C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |