| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.27367536A>G | CA1576765 | EIF2B4 | c.806T>C (p.Leu269Pro) c.*72T>C (n.*72T>C) c.382T>C c.803T>C (p.Leu268Pro) c.866T>C (p.Leu289Pro) n.2315T>C c.869T>C (p.Leu290Pro) c.797T>C (p.Leu266Pro) c.761T>C (p.Leu254Pro) c.758T>C (p.Leu253Pro) c.188T>C (p.Leu63Pro) c.713T>C (p.Leu238Pro) c.221T>C (p.Leu74Pro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.27367536A>C | CA44512352 | EIF2B4 | c.806T>G (p.Leu269Arg) c.*72T>G (n.*72T>G) c.382T>G c.803T>G (p.Leu268Arg) c.866T>G (p.Leu289Arg) n.2315T>G c.869T>G (p.Leu290Arg) c.797T>G (p.Leu266Arg) c.761T>G (p.Leu254Arg) c.758T>G (p.Leu253Arg) c.188T>G (p.Leu63Arg) c.713T>G (p.Leu238Arg) c.221T>G (p.Leu74Arg) | dbSNP gnomAD v4 |