| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.27367535_27367537delinsCAG | CA1240245482 | EIF2B4 | c.805_807delinsCTG (p.Leu269=) c.*71_*73delinsCTG (n.*71_*73delinsCTG) c.381_383delinsCTG c.802_804delinsCTG (p.Leu268=) c.865_867delinsCTG (p.Leu289=) n.2314_2316delinsCTG c.868_870delinsCTG (p.Leu290=) c.796_798delinsCTG (p.Leu266=) c.760_762delinsCTG (p.Leu254=) c.757_759delinsCTG (p.Leu253=) c.187_189delinsCTG (p.Leu63=) c.712_714delinsCTG (p.Leu238=) c.220_222delinsCTG (p.Leu74=) | |
| 2 | g.27367536del | CA2576981003 | EIF2B4 | c.806del (p.Leu269ArgfsTer?) c.*72del (n.*72del) c.382del c.803del (p.Leu268ArgfsTer?) c.866del (p.Leu289ArgfsTer?) n.2315del c.869del (p.Leu290ArgfsTer?) c.797del (p.Leu266ArgfsTer?) c.761del (p.Leu254ArgfsTer?) c.758del (p.Leu253ArgfsTer?) c.188del (p.Leu63ArgfsTer?) c.713del (p.Leu238ArgfsTer?) c.221del (p.Leu74ArgfsTer?) | ClinVar |
| 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=) | |
| 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>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>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) | gnomAD v4 |
| 2 | g.27367536_27367537del | CA1576764 | EIF2B4 | c.805_806del (p.Leu269ValfsTer12) c.*71_*72del (n.*71_*72del) c.381_382del c.802_803del (p.Leu268ValfsTer12) c.865_866del (p.Leu289ValfsTer12) n.2314_2315del c.868_869del (p.Leu290ValfsTer12) c.796_797del (p.Leu266ValfsTer12) c.760_761del (p.Leu254ValfsTer12) c.757_758del (p.Leu253ValfsTer12) c.187_188del (p.Leu63ValfsTer12) c.712_713del (p.Leu238ValfsTer12) c.220_221del (p.Leu74ValfsTer12) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.27367537G>A | CA425410901 | EIF2B4 | c.805C>T (p.Leu269=) c.*71C>T (n.*71C>T) c.381C>T c.802C>T (p.Leu268=) c.865C>T (p.Leu289=) n.2314C>T c.868C>T (p.Leu290=) c.796C>T (p.Leu266=) c.760C>T (p.Leu254=) c.757C>T (p.Leu253=) c.187C>T (p.Leu63=) c.712C>T (p.Leu238=) c.220C>T (p.Leu74=) | gnomAD v4 |
| 2 | g.27367537G>C | CA346199355 | EIF2B4 | c.805C>G (p.Leu269Val) c.*71C>G (n.*71C>G) c.381C>G c.802C>G (p.Leu268Val) c.865C>G (p.Leu289Val) n.2314C>G c.868C>G (p.Leu290Val) c.796C>G (p.Leu266Val) c.760C>G (p.Leu254Val) c.757C>G (p.Leu253Val) c.187C>G (p.Leu63Val) c.712C>G (p.Leu238Val) c.220C>G (p.Leu74Val) | dbSNP |
| 2 | g.27367537G= | CA1240245489 | EIF2B4 | c.805C= (p.Leu269=) c.*71C= (n.*71C=) c.381C= c.802C= (p.Leu268=) c.865C= (p.Leu289=) n.2314C= c.868C= (p.Leu290=) c.796C= (p.Leu266=) c.760C= (p.Leu254=) c.757C= (p.Leu253=) c.187C= (p.Leu63=) c.712C= (p.Leu238=) c.220C= (p.Leu74=) | |
| 2 | g.27367537G>T | CA346199357 | EIF2B4 | c.805C>A (p.Leu269Met) c.*71C>A (n.*71C>A) c.381C>A c.802C>A (p.Leu268Met) c.865C>A (p.Leu289Met) n.2314C>A c.868C>A (p.Leu290Met) c.796C>A (p.Leu266Met) c.760C>A (p.Leu254Met) c.757C>A (p.Leu253Met) c.187C>A (p.Leu63Met) c.712C>A (p.Leu238Met) c.220C>A (p.Leu74Met) | dbSNP |
| 2 | g.27367538G>A | CA425410904 | EIF2B4 | c.804C>T (p.Pro268=) c.*70C>T (n.*70C>T) c.380C>T c.801C>T (p.Pro267=) c.864C>T (p.Pro288=) n.2313C>T c.867C>T (p.Pro289=) c.795C>T (p.Pro265=) c.759C>T (p.Pro253=) c.756C>T (p.Pro252=) c.186C>T (p.Pro62=) c.711C>T (p.Pro237=) c.219C>T (p.Pro73=) | |
| 2 | g.27367538G>C | CA1576766 | EIF2B4 | c.804C>G (p.Pro268=) c.*70C>G (n.*70C>G) c.380C>G c.801C>G (p.Pro267=) c.864C>G (p.Pro288=) n.2313C>G c.867C>G (p.Pro289=) c.795C>G (p.Pro265=) c.759C>G (p.Pro253=) c.756C>G (p.Pro252=) c.186C>G (p.Pro62=) c.711C>G (p.Pro237=) c.219C>G (p.Pro73=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.27367538G= | CA1240245493 | EIF2B4 | c.804C= (p.Pro268=) c.*70C= (n.*70C=) c.380C= c.801C= (p.Pro267=) c.864C= (p.Pro288=) n.2313C= c.867C= (p.Pro289=) c.795C= (p.Pro265=) c.759C= (p.Pro253=) c.756C= (p.Pro252=) c.186C= (p.Pro62=) c.711C= (p.Pro237=) c.219C= (p.Pro73=) | |
| 2 | g.27367538G>T | CA425410906 | EIF2B4 | c.804C>A (p.Pro268=) c.*70C>A (n.*70C>A) c.380C>A c.801C>A (p.Pro267=) c.864C>A (p.Pro288=) n.2313C>A c.867C>A (p.Pro289=) c.795C>A (p.Pro265=) c.759C>A (p.Pro253=) c.756C>A (p.Pro252=) c.186C>A (p.Pro62=) c.711C>A (p.Pro237=) c.219C>A (p.Pro73=) | dbSNP gnomAD v4 |
| 2 | g.27367539G>A | CA346199360 | EIF2B4 | c.803C>T (p.Pro268Leu) c.*69C>T (n.*69C>T) c.379C>T c.800C>T (p.Pro267Leu) c.863C>T (p.Pro288Leu) n.2312C>T c.866C>T (p.Pro289Leu) c.794C>T (p.Pro265Leu) c.758C>T (p.Pro253Leu) c.755C>T (p.Pro252Leu) c.185C>T (p.Pro62Leu) c.710C>T (p.Pro237Leu) c.218C>T (p.Pro73Leu) | gnomAD v4 |
| 2 | g.27367539G>C | CA44512376 | EIF2B4 | c.803C>G (p.Pro268Arg) c.*69C>G (n.*69C>G) c.379C>G c.800C>G (p.Pro267Arg) c.863C>G (p.Pro288Arg) n.2312C>G c.866C>G (p.Pro289Arg) c.794C>G (p.Pro265Arg) c.758C>G (p.Pro253Arg) c.755C>G (p.Pro252Arg) c.185C>G (p.Pro62Arg) c.710C>G (p.Pro237Arg) c.218C>G (p.Pro73Arg) | dbSNP gnomAD v4 |
| 2 | g.27367539G= | CA1240245497 | EIF2B4 | c.803C= (p.Pro268=) c.*69C= (n.*69C=) c.379C= c.800C= (p.Pro267=) c.863C= (p.Pro288=) n.2312C= c.866C= (p.Pro289=) c.794C= (p.Pro265=) c.758C= (p.Pro253=) c.755C= (p.Pro252=) c.185C= (p.Pro62=) c.710C= (p.Pro237=) c.218C= (p.Pro73=) | |
| 2 | g.27367539G>T | CA346199363 | EIF2B4 | c.803C>A (p.Pro268His) c.*69C>A (n.*69C>A) c.379C>A c.800C>A (p.Pro267His) c.863C>A (p.Pro288His) n.2312C>A c.866C>A (p.Pro289His) c.794C>A (p.Pro265His) c.758C>A (p.Pro253His) c.755C>A (p.Pro252His) c.185C>A (p.Pro62His) c.710C>A (p.Pro237His) c.218C>A (p.Pro73His) | |
| 2 | g.27367540G>A | CA346199365 | EIF2B4 | c.802C>T (p.Pro268Ser) c.*68C>T (n.*68C>T) c.378C>T c.799C>T (p.Pro267Ser) c.862C>T (p.Pro288Ser) n.2311C>T c.865C>T (p.Pro289Ser) c.793C>T (p.Pro265Ser) c.757C>T (p.Pro253Ser) c.754C>T (p.Pro252Ser) c.184C>T (p.Pro62Ser) c.709C>T (p.Pro237Ser) c.217C>T (p.Pro73Ser) | |
| 2 | g.27367540G>C | CA346199366 | EIF2B4 | c.802C>G (p.Pro268Ala) c.*68C>G (n.*68C>G) c.378C>G c.799C>G (p.Pro267Ala) c.862C>G (p.Pro288Ala) n.2311C>G c.865C>G (p.Pro289Ala) c.793C>G (p.Pro265Ala) c.757C>G (p.Pro253Ala) c.754C>G (p.Pro252Ala) c.184C>G (p.Pro62Ala) c.709C>G (p.Pro237Ala) c.217C>G (p.Pro73Ala) | gnomAD v4 |
| 2 | g.27367540G= | CA1240245500 | EIF2B4 | c.802C= (p.Pro268=) c.*68C= (n.*68C=) c.378C= c.799C= (p.Pro267=) c.862C= (p.Pro288=) n.2311C= c.865C= (p.Pro289=) c.793C= (p.Pro265=) c.757C= (p.Pro253=) c.754C= (p.Pro252=) c.184C= (p.Pro62=) c.709C= (p.Pro237=) c.217C= (p.Pro73=) | |
| 2 | g.27367540G>T | CA346199367 | EIF2B4 | c.802C>A (p.Pro268Thr) c.*68C>A (n.*68C>A) c.378C>A c.799C>A (p.Pro267Thr) c.862C>A (p.Pro288Thr) n.2311C>A c.865C>A (p.Pro289Thr) c.793C>A (p.Pro265Thr) c.757C>A (p.Pro253Thr) c.754C>A (p.Pro252Thr) c.184C>A (p.Pro62Thr) c.709C>A (p.Pro237Thr) c.217C>A (p.Pro73Thr) | dbSNP |
| 2 | g.27367541A>C | CA425410908 | EIF2B4 | c.801T>G (p.Arg267=) c.*67T>G (n.*67T>G) c.377T>G c.798T>G (p.Arg266=) c.861T>G (p.Arg287=) n.2310T>G c.864T>G (p.Arg288=) c.792T>G (p.Arg264=) c.756T>G (p.Arg252=) c.753T>G (p.Arg251=) c.183T>G (p.Arg61=) c.708T>G (p.Arg236=) c.216T>G (p.Arg72=) | |
| 2 | g.27367541A>G | CA425410909 | EIF2B4 | c.801T>C (p.Arg267=) c.*67T>C (n.*67T>C) c.377T>C c.798T>C (p.Arg266=) c.861T>C (p.Arg287=) n.2310T>C c.864T>C (p.Arg288=) c.792T>C (p.Arg264=) c.756T>C (p.Arg252=) c.753T>C (p.Arg251=) c.183T>C (p.Arg61=) c.708T>C (p.Arg236=) c.216T>C (p.Arg72=) | gnomAD v4 |
| 2 | g.27367541A>T | CA425410910 | EIF2B4 | c.801T>A (p.Arg267=) c.*67T>A (n.*67T>A) c.377T>A c.798T>A (p.Arg266=) c.861T>A (p.Arg287=) n.2310T>A c.864T>A (p.Arg288=) c.792T>A (p.Arg264=) c.756T>A (p.Arg252=) c.753T>A (p.Arg251=) c.183T>A (p.Arg61=) c.708T>A (p.Arg236=) c.216T>A (p.Arg72=) | |
| 2 | g.27367542C>A | CA346199368 | EIF2B4 | c.800G>T (p.Arg267Leu) c.*66G>T (n.*66G>T) c.376G>T c.797G>T (p.Arg266Leu) c.860G>T (p.Arg287Leu) n.2309G>T c.863G>T (p.Arg288Leu) c.791G>T (p.Arg264Leu) c.755G>T (p.Arg252Leu) c.752G>T (p.Arg251Leu) c.182G>T (p.Arg61Leu) c.707G>T (p.Arg236Leu) c.215G>T (p.Arg72Leu) | |
| 2 | g.27367542C>G | CA346199369 | EIF2B4 | c.800G>C (p.Arg267Pro) c.*66G>C (n.*66G>C) c.376G>C c.797G>C (p.Arg266Pro) c.860G>C (p.Arg287Pro) n.2309G>C c.863G>C (p.Arg288Pro) c.791G>C (p.Arg264Pro) c.755G>C (p.Arg252Pro) c.752G>C (p.Arg251Pro) c.182G>C (p.Arg61Pro) c.707G>C (p.Arg236Pro) c.215G>C (p.Arg72Pro) | |
| 2 | g.27367542C>T | CA346199370 | EIF2B4 | c.800G>A (p.Arg267His) c.*66G>A (n.*66G>A) c.376G>A c.797G>A (p.Arg266His) c.860G>A (p.Arg287His) n.2309G>A c.863G>A (p.Arg288His) c.791G>A (p.Arg264His) c.755G>A (p.Arg252His) c.752G>A (p.Arg251His) c.182G>A (p.Arg61His) c.707G>A (p.Arg236His) c.215G>A (p.Arg72His) | gnomAD v4 COSMIC COSMIC |
| 2 | g.27367543G>A | CA44512383 | EIF2B4 | c.799C>T (p.Arg267Cys) c.*65C>T (n.*65C>T) c.375C>T c.796C>T (p.Arg266Cys) c.859C>T (p.Arg287Cys) n.2308C>T c.862C>T (p.Arg288Cys) c.790C>T (p.Arg264Cys) c.754C>T (p.Arg252Cys) c.751C>T (p.Arg251Cys) c.181C>T (p.Arg61Cys) c.706C>T (p.Arg236Cys) c.214C>T (p.Arg72Cys) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.27367543G>C | CA346199371 | EIF2B4 | c.799C>G (p.Arg267Gly) c.*65C>G (n.*65C>G) c.375C>G c.796C>G (p.Arg266Gly) c.859C>G (p.Arg287Gly) n.2308C>G c.862C>G (p.Arg288Gly) c.790C>G (p.Arg264Gly) c.754C>G (p.Arg252Gly) c.751C>G (p.Arg251Gly) c.181C>G (p.Arg61Gly) c.706C>G (p.Arg236Gly) c.214C>G (p.Arg72Gly) | |
| 2 | g.27367543G= | CA1240245503 | EIF2B4 | c.799C= (p.Arg267=) c.*65C= (n.*65C=) c.375C= c.796C= (p.Arg266=) c.859C= (p.Arg287=) n.2308C= c.862C= (p.Arg288=) c.790C= (p.Arg264=) c.754C= (p.Arg252=) c.751C= (p.Arg251=) c.181C= (p.Arg61=) c.706C= (p.Arg236=) c.214C= (p.Arg72=) | |
| 2 | g.27367543G>T | CA346199372 | EIF2B4 | c.799C>A (p.Arg267Ser) c.*65C>A (n.*65C>A) c.375C>A c.796C>A (p.Arg266Ser) c.859C>A (p.Arg287Ser) n.2308C>A c.862C>A (p.Arg288Ser) c.790C>A (p.Arg264Ser) c.754C>A (p.Arg252Ser) c.751C>A (p.Arg251Ser) c.181C>A (p.Arg61Ser) c.706C>A (p.Arg236Ser) c.214C>A (p.Arg72Ser) | |
| 2 | g.27367544G>A | CA1576767 | EIF2B4 | c.798C>T (p.Cys266=) c.*64C>T (n.*64C>T) c.374C>T c.795C>T (p.Cys265=) c.858C>T (p.Cys286=) n.2307C>T c.861C>T (p.Cys287=) c.789C>T (p.Cys263=) c.753C>T (p.Cys251=) c.750C>T (p.Cys250=) c.180C>T (p.Cys60=) c.705C>T (p.Cys235=) c.213C>T (p.Cys71=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.27367544G>C | CA346199374 | EIF2B4 | c.798C>G (p.Cys266Trp) c.*64C>G (n.*64C>G) c.374C>G c.795C>G (p.Cys265Trp) c.858C>G (p.Cys286Trp) n.2307C>G c.861C>G (p.Cys287Trp) c.789C>G (p.Cys263Trp) c.753C>G (p.Cys251Trp) c.750C>G (p.Cys250Trp) c.180C>G (p.Cys60Trp) c.705C>G (p.Cys235Trp) c.213C>G (p.Cys71Trp) | |
| 2 | g.27367544G= | CA1240245505 | EIF2B4 | c.798C= (p.Cys266=) c.*64C= (n.*64C=) c.374C= c.795C= (p.Cys265=) c.858C= (p.Cys286=) n.2307C= c.861C= (p.Cys287=) c.789C= (p.Cys263=) c.753C= (p.Cys251=) c.750C= (p.Cys250=) c.180C= (p.Cys60=) c.705C= (p.Cys235=) c.213C= (p.Cys71=) | |
| 2 | g.27367544G>T | CA346199373 | EIF2B4 | c.798C>A (p.Cys266Ter) c.*64C>A (n.*64C>A) c.374C>A c.795C>A (p.Cys265Ter) c.858C>A (p.Cys286Ter) n.2307C>A c.861C>A (p.Cys287Ter) c.789C>A (p.Cys263Ter) c.753C>A (p.Cys251Ter) c.750C>A (p.Cys250Ter) c.180C>A (p.Cys60Ter) c.705C>A (p.Cys235Ter) c.213C>A (p.Cys71Ter) | |
| 2 | g.27367545C>A | CA346199375 | EIF2B4 | c.797G>T (p.Cys266Phe) c.*63G>T (n.*63G>T) c.373G>T c.794G>T (p.Cys265Phe) c.857G>T (p.Cys286Phe) n.2306G>T c.860G>T (p.Cys287Phe) c.788G>T (p.Cys263Phe) c.752G>T (p.Cys251Phe) c.749G>T (p.Cys250Phe) c.179G>T (p.Cys60Phe) c.704G>T (p.Cys235Phe) c.212G>T (p.Cys71Phe) | |
| 2 | g.27367545C>G | CA346199376 | EIF2B4 | c.797G>C (p.Cys266Ser) c.*63G>C (n.*63G>C) c.373G>C c.794G>C (p.Cys265Ser) c.857G>C (p.Cys286Ser) n.2306G>C c.860G>C (p.Cys287Ser) c.788G>C (p.Cys263Ser) c.752G>C (p.Cys251Ser) c.749G>C (p.Cys250Ser) c.179G>C (p.Cys60Ser) c.704G>C (p.Cys235Ser) c.212G>C (p.Cys71Ser) | |
| 2 | g.27367545C>T | CA346199377 | EIF2B4 | c.797G>A (p.Cys266Tyr) c.*63G>A (n.*63G>A) c.373G>A c.794G>A (p.Cys265Tyr) c.857G>A (p.Cys286Tyr) n.2306G>A c.860G>A (p.Cys287Tyr) c.788G>A (p.Cys263Tyr) c.752G>A (p.Cys251Tyr) c.749G>A (p.Cys250Tyr) c.179G>A (p.Cys60Tyr) c.704G>A (p.Cys235Tyr) c.212G>A (p.Cys71Tyr) | |
| 2 | g.27367546A>C | CA346199378 | EIF2B4 | c.796T>G (p.Cys266Gly) c.*62T>G (n.*62T>G) c.372T>G c.793T>G (p.Cys265Gly) c.856T>G (p.Cys286Gly) n.2305T>G c.859T>G (p.Cys287Gly) c.787T>G (p.Cys263Gly) c.751T>G (p.Cys251Gly) c.748T>G (p.Cys250Gly) c.178T>G (p.Cys60Gly) c.703T>G (p.Cys235Gly) c.211T>G (p.Cys71Gly) | |
| 2 | g.27367546A>G | CA346199379 | EIF2B4 | c.796T>C (p.Cys266Arg) c.*62T>C (n.*62T>C) c.372T>C c.793T>C (p.Cys265Arg) c.856T>C (p.Cys286Arg) n.2305T>C c.859T>C (p.Cys287Arg) c.787T>C (p.Cys263Arg) c.751T>C (p.Cys251Arg) c.748T>C (p.Cys250Arg) c.178T>C (p.Cys60Arg) c.703T>C (p.Cys235Arg) c.211T>C (p.Cys71Arg) | gnomAD v4 |
| 2 | g.27367546A>T | CA346199380 | EIF2B4 | c.796T>A (p.Cys266Ser) c.*62T>A (n.*62T>A) c.372T>A c.793T>A (p.Cys265Ser) c.856T>A (p.Cys286Ser) n.2305T>A c.859T>A (p.Cys287Ser) c.787T>A (p.Cys263Ser) c.751T>A (p.Cys251Ser) c.748T>A (p.Cys250Ser) c.178T>A (p.Cys60Ser) c.703T>A (p.Cys235Ser) c.211T>A (p.Cys71Ser) | |
| 2 | g.27367547C>A | CA346199381 | EIF2B4 | c.795G>T (p.Gln265His) c.*61G>T (n.*61G>T) c.371G>T c.792G>T (p.Gln264His) c.855G>T (p.Gln285His) n.2304G>T c.858G>T (p.Gln286His) c.786G>T (p.Gln262His) c.750G>T (p.Gln250His) c.747G>T (p.Gln249His) c.177G>T (p.Gln59His) c.702G>T (p.Gln234His) c.210G>T (p.Gln70His) | |
| 2 | g.27367547C>G | CA346199382 | EIF2B4 | c.795G>C (p.Gln265His) c.*61G>C (n.*61G>C) c.371G>C c.792G>C (p.Gln264His) c.855G>C (p.Gln285His) n.2304G>C c.858G>C (p.Gln286His) c.786G>C (p.Gln262His) c.750G>C (p.Gln250His) c.747G>C (p.Gln249His) c.177G>C (p.Gln59His) c.702G>C (p.Gln234His) c.210G>C (p.Gln70His) | |
| 2 | g.27367547C>T | CA425410921 | EIF2B4 | c.795G>A (p.Gln265=) c.*61G>A (n.*61G>A) c.371G>A c.792G>A (p.Gln264=) c.855G>A (p.Gln285=) n.2304G>A c.858G>A (p.Gln286=) c.786G>A (p.Gln262=) c.750G>A (p.Gln250=) c.747G>A (p.Gln249=) c.177G>A (p.Gln59=) c.702G>A (p.Gln234=) c.210G>A (p.Gln70=) | gnomAD v4 |
| 2 | g.27367548T>A | CA346199383 | EIF2B4 | c.794A>T (p.Gln265Leu) c.*60A>T (n.*60A>T) c.370A>T c.791A>T (p.Gln264Leu) c.854A>T (p.Gln285Leu) n.2303A>T c.857A>T (p.Gln286Leu) c.785A>T (p.Gln262Leu) c.749A>T (p.Gln250Leu) c.746A>T (p.Gln249Leu) c.176A>T (p.Gln59Leu) c.701A>T (p.Gln234Leu) c.209A>T (p.Gln70Leu) | |
| 2 | g.27367548T>C | CA346199384 | EIF2B4 | c.794A>G (p.Gln265Arg) c.*60A>G (n.*60A>G) c.370A>G c.791A>G (p.Gln264Arg) c.854A>G (p.Gln285Arg) n.2303A>G c.857A>G (p.Gln286Arg) c.785A>G (p.Gln262Arg) c.749A>G (p.Gln250Arg) c.746A>G (p.Gln249Arg) c.176A>G (p.Gln59Arg) c.701A>G (p.Gln234Arg) c.209A>G (p.Gln70Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.27367548T>G | CA346199385 | EIF2B4 | c.794A>C (p.Gln265Pro) c.*60A>C (n.*60A>C) c.370A>C c.791A>C (p.Gln264Pro) c.854A>C (p.Gln285Pro) n.2303A>C c.857A>C (p.Gln286Pro) c.785A>C (p.Gln262Pro) c.749A>C (p.Gln250Pro) c.746A>C (p.Gln249Pro) c.176A>C (p.Gln59Pro) c.701A>C (p.Gln234Pro) c.209A>C (p.Gln70Pro) | |
| 2 | g.27367548T= | CA1240245507 | EIF2B4 | c.794A= (p.Gln265=) c.*60A= (n.*60A=) c.370A= c.791A= (p.Gln264=) c.854A= (p.Gln285=) n.2303A= c.857A= (p.Gln286=) c.785A= (p.Gln262=) c.749A= (p.Gln250=) c.746A= (p.Gln249=) c.176A= (p.Gln59=) c.701A= (p.Gln234=) c.209A= (p.Gln70=) |