| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.67490910C>T | CA340298 | AIP | c.1217C>T c.721C>T (p.Arg241Ter) n.1752C>T c.469-87C>T (n.469-87C>T) c.541C>T (p.Arg181Ter) c.910C>T (p.Arg304Ter) c.*50C>T (n.*50C>T) c.733C>T (p.Arg245Ter) c.730C>T (p.Arg244Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.67490910C>G | CA6141001 | AIP | c.1217C>G c.721C>G (p.Arg241Gly) n.1752C>G c.469-87C>G (n.469-87C>G) c.541C>G (p.Arg181Gly) c.910C>G (p.Arg304Gly) c.*50C>G (n.*50C>G) c.733C>G (p.Arg245Gly) c.730C>G (p.Arg244Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |