| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.67490391A>T | CA344171 | AIP | c.698A>T c.532A>T (p.Lys178Ter) n.1233A>T c.469-606A>T (n.469-606A>T) c.352A>T (p.Lys118Ter) c.721A>T (p.Lys241Ter) c.544A>T (p.Lys182Ter) c.541A>T (p.Lys181Ter) c.373A>T (p.Lys125Ter) | ClinVar dbSNP |
| 11 | g.67490391A>G | CA344167 | AIP | c.698A>G c.532A>G (p.Lys178Glu) n.1233A>G c.469-606A>G (n.469-606A>G) c.352A>G (p.Lys118Glu) c.721A>G (p.Lys241Glu) c.544A>G (p.Lys182Glu) c.541A>G (p.Lys181Glu) c.373A>G (p.Lys125Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |