| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.72230799C>T | CA130327 | INPPL1 | c.1201C>T (p.Arg401Trp) n.82C>T c.475C>T (p.Arg159Trp) c.1003C>T (p.Arg335Trp) c.1267C>T (p.Arg423Trp) c.1237C>T (p.Arg413Trp) | ClinVar dbSNP gnomAD v4 |
| 11 | g.72230799C= | CA1981898257 | INPPL1 | c.1201C= (p.Arg401=) n.82C= c.475C= (p.Arg159=) c.1003C= (p.Arg335=) c.1267C= (p.Arg423=) c.1237C= (p.Arg413=) | dbSNP |