| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.67490385C>T | CA344163 | AIP | c.692C>T c.526C>T (p.Gln176Ter) n.1227C>T c.469-612C>T (n.469-612C>T) c.346C>T (p.Gln116Ter) c.715C>T (p.Gln239Ter) c.538C>T (p.Gln180Ter) c.535C>T (p.Gln179Ter) c.367C>T (p.Gln123Ter) | ClinVar dbSNP gnomAD v4 |
| 11 | g.67490385C= | CA1980172437 | AIP | c.692C= c.526C= (p.Gln176=) n.1227C= c.469-612C= (n.469-612C=) c.346C= (p.Gln116=) c.715C= (p.Gln239=) c.538C= (p.Gln180=) c.535C= (p.Gln179=) c.367C= (p.Gln123=) | dbSNP |