| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.67489295A>G | CA344094 | AIP | c.285A>G c.280-743A>G (n.280-743A>G) n.238A>G c.308A>G (p.Lys103Arg) c.100-743A>G (n.100-743A>G) c.131A>G (p.Lys44Arg) c.128A>G (p.Lys43Arg) n.418A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.67489295A= | CA1980171924 | AIP | c.285A= c.280-743A= (n.280-743A=) n.238A= c.308A= (p.Lys103=) c.100-743A= (n.100-743A=) c.131A= (p.Lys44=) c.128A= (p.Lys43=) n.418A= | dbSNP |