| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.136429731G>A | CA114238 | INPP5E | c.1879C>T (p.Gln627Ter) c.1777C>T (p.Gln593Ter) c.1876C>T (p.Gln626Ter) c.*23C>T (n.*23C>T) n.2484C>T | ClinVar dbSNP |
| 9 | g.136429731G>C | CA375560160 | INPP5E | c.1879C>G (p.Gln627Glu) c.1777C>G (p.Gln593Glu) c.1876C>G (p.Gln626Glu) c.*23C>G (n.*23C>G) n.2484C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |