| 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) | ClinVar 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 |
| 2 | g.27367536A>T | CA346199352 | EIF2B4 | c.806T>A (p.Leu269Gln) c.*72T>A (n.*72T>A) c.382T>A c.803T>A (p.Leu268Gln) c.866T>A (p.Leu289Gln) n.2315T>A c.869T>A (p.Leu290Gln) c.797T>A (p.Leu266Gln) c.761T>A (p.Leu254Gln) c.758T>A (p.Leu253Gln) c.188T>A (p.Leu63Gln) c.713T>A (p.Leu238Gln) c.221T>A (p.Leu74Gln) | dbSNP gnomAD v4 |
| 2 | g.27367536A= | CA1240245485 | EIF2B4 | c.806T= (p.Leu269=) c.*72T= (n.*72T=) c.382T= c.803T= (p.Leu268=) c.866T= (p.Leu289=) n.2315T= c.869T= (p.Leu290=) c.797T= (p.Leu266=) c.761T= (p.Leu254=) c.758T= (p.Leu253=) c.188T= (p.Leu63=) c.713T= (p.Leu238=) c.221T= (p.Leu74=) | dbSNP dbSNP |