| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.67490160G>T | CA381551023 | AIP | c.568G>T c.402G>T (p.Glu134Asp) n.1103G>T c.468+705G>T (n.468+705G>T) c.222G>T (p.Glu74Asp) c.591G>T (p.Glu197Asp) c.414G>T (p.Glu138Asp) c.411G>T (p.Glu137Asp) c.243G>T (p.Glu81Asp) | ClinVar dbSNP |
| 11 | g.67490160G>A | CA344134 | AIP | c.568G>A c.402G>A (p.Glu134=) n.1103G>A c.468+705G>A (n.468+705G>A) c.222G>A (p.Glu74=) c.591G>A (p.Glu197=) c.414G>A (p.Glu138=) c.411G>A (p.Glu137=) c.243G>A (p.Glu81=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |