| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.67490119C>A | CA6140867 | AIP | c.527C>A c.361C>A (p.Gln121Lys) n.1062C>A c.468+664C>A (n.468+664C>A) c.181C>A (p.Gln61Lys) c.550C>A (p.Gln184Lys) c.373C>A (p.Gln125Lys) c.370C>A (p.Gln124Lys) c.202C>A (p.Gln68Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.67490119C>T | CA344126 | AIP | c.527C>T c.361C>T (p.Gln121Ter) n.1062C>T c.468+664C>T (n.468+664C>T) c.181C>T (p.Gln61Ter) c.550C>T (p.Gln184Ter) c.373C>T (p.Gln125Ter) c.370C>T (p.Gln124Ter) c.202C>T (p.Gln68Ter) | ClinVar dbSNP gnomAD v4 |