| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.136431830G>T | CA10587060 | INPP5E | c.1543C>A (p.Arg515=) c.1441C>A (p.Arg481=) c.1540C>A (p.Arg514=) n.2148C>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.136431830G>A | CA259595 | INPP5E | c.1543C>T (p.Arg515Trp) c.1441C>T (p.Arg481Trp) c.1540C>T (p.Arg514Trp) n.2148C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.136431830G= | CA1884225163 | INPP5E | c.1543C= (p.Arg515=) c.1441C= (p.Arg481=) c.1540C= (p.Arg514=) n.2148C= | dbSNP |