| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.67490811C>T | CA344201 | AIP | c.1118C>T c.622C>T (p.Arg208Trp) n.1653C>T c.469-186C>T (n.469-186C>T) c.442C>T (p.Arg148Trp) c.811C>T (p.Arg271Trp) c.803C>T (p.Ala268Val) c.634C>T (p.Arg212Trp) c.800C>T (p.Ala267Val) c.631C>T (p.Arg211Trp) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.67490811C= | CA1980172645 | AIP | c.1118C= c.622C= (p.Arg208=) n.1653C= c.469-186C= (n.469-186C=) c.442C= (p.Arg148=) c.811C= (p.Arg271=) c.803C= (p.Ala268=) c.634C= (p.Arg212=) c.800C= (p.Ala267=) c.631C= (p.Arg211=) | dbSNP |