| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.136430410G>A | CA201638375 | INPP5E | c.1669C>T (p.Arg557Cys) n.186C>T c.1567C>T (p.Arg523Cys) c.1666C>T (p.Arg556Cys) n.2274C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.136430410G>C | CA375561462 | INPP5E | c.1669C>G (p.Arg557Gly) n.186C>G c.1567C>G (p.Arg523Gly) c.1666C>G (p.Arg556Gly) n.2274C>G | dbSNP gnomAD v4 |
| 9 | g.136430410G= | CA1884224205 | INPP5E | c.1669C= (p.Arg557=) n.186C= c.1567C= (p.Arg523=) c.1666C= (p.Arg556=) n.2274C= | dbSNP |