| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.27367775_27367799del | CA645539330 | EIF2B4 | c.729_753del (p.Pro244Ter) c.703_*19del (n.[c.703_*19del;Ala235LeufsTer?]) c.305_329del c.726_750del (p.Pro243Ter) c.789_813del (p.Pro264Ter) n.2052_2076del c.792_816del (p.Pro265Ter) c.720_744del (p.Pro241Ter) c.682_*19del (n.[c.682_*19del;Ala228LeufsTer?]) c.684_708del (p.Pro229Ter) c.681_705del (p.Pro228Ter) c.111_135del (p.Pro38Ter) c.636_660del (p.Pro213Ter) c.144_168del (p.Pro49Ter) | COSMIC COSMIC |
| 2 | g.27367782G>A | CA346199694 | EIF2B4 | c.746C>T (p.Ser249Phe) c.*12C>T (n.*12C>T) c.322C>T c.743C>T (p.Ser248Phe) c.806C>T (p.Ser269Phe) n.2069C>T c.809C>T (p.Ser270Phe) c.737C>T (p.Ser246Phe) c.701C>T (p.Ser234Phe) c.698C>T (p.Ser233Phe) c.128C>T (p.Ser43Phe) c.653C>T (p.Ser218Phe) c.161C>T (p.Ser54Phe) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.27367782G>C | CA346199696 | EIF2B4 | c.746C>G (p.Ser249Cys) c.*12C>G (n.*12C>G) c.322C>G c.743C>G (p.Ser248Cys) c.806C>G (p.Ser269Cys) n.2069C>G c.809C>G (p.Ser270Cys) c.737C>G (p.Ser246Cys) c.701C>G (p.Ser234Cys) c.698C>G (p.Ser233Cys) c.128C>G (p.Ser43Cys) c.653C>G (p.Ser218Cys) c.161C>G (p.Ser54Cys) | |
| 2 | g.27367782G= | CA1240245797 | EIF2B4 | c.746C= (p.Ser249=) c.*12C= (n.*12C=) c.322C= c.743C= (p.Ser248=) c.806C= (p.Ser269=) n.2069C= c.809C= (p.Ser270=) c.737C= (p.Ser246=) c.701C= (p.Ser234=) c.698C= (p.Ser233=) c.128C= (p.Ser43=) c.653C= (p.Ser218=) c.161C= (p.Ser54=) | |
| 2 | g.27367782G>T | CA346199697 | EIF2B4 | c.746C>A (p.Ser249Tyr) c.*12C>A (n.*12C>A) c.322C>A c.743C>A (p.Ser248Tyr) c.806C>A (p.Ser269Tyr) n.2069C>A c.809C>A (p.Ser270Tyr) c.737C>A (p.Ser246Tyr) c.701C>A (p.Ser234Tyr) c.698C>A (p.Ser233Tyr) c.128C>A (p.Ser43Tyr) c.653C>A (p.Ser218Tyr) c.161C>A (p.Ser54Tyr) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.27367783A>C | CA346199698 | EIF2B4 | c.745T>G (p.Ser249Ala) c.*11T>G (n.*11T>G) c.321T>G c.742T>G (p.Ser248Ala) c.805T>G (p.Ser269Ala) n.2068T>G c.808T>G (p.Ser270Ala) c.736T>G (p.Ser246Ala) c.700T>G (p.Ser234Ala) c.697T>G (p.Ser233Ala) c.127T>G (p.Ser43Ala) c.652T>G (p.Ser218Ala) c.160T>G (p.Ser54Ala) | |
| 2 | g.27367783A>G | CA346199701 | EIF2B4 | c.745T>C (p.Ser249Pro) c.*11T>C (n.*11T>C) c.321T>C c.742T>C (p.Ser248Pro) c.805T>C (p.Ser269Pro) n.2068T>C c.808T>C (p.Ser270Pro) c.736T>C (p.Ser246Pro) c.700T>C (p.Ser234Pro) c.697T>C (p.Ser233Pro) c.127T>C (p.Ser43Pro) c.652T>C (p.Ser218Pro) c.160T>C (p.Ser54Pro) | gnomAD v4 |
| 2 | g.27367783A>T | CA346199703 | EIF2B4 | c.745T>A (p.Ser249Thr) c.*11T>A (n.*11T>A) c.321T>A c.742T>A (p.Ser248Thr) c.805T>A (p.Ser269Thr) n.2068T>A c.808T>A (p.Ser270Thr) c.736T>A (p.Ser246Thr) c.700T>A (p.Ser234Thr) c.697T>A (p.Ser233Thr) c.127T>A (p.Ser43Thr) c.652T>A (p.Ser218Thr) c.160T>A (p.Ser54Thr) | |
| 2 | g.27367784G>A | CA425411292 | EIF2B4 | c.744C>T (p.Leu248=) c.*10C>T (n.*10C>T) c.320C>T c.741C>T (p.Leu247=) c.804C>T (p.Leu268=) n.2067C>T c.807C>T (p.Leu269=) c.735C>T (p.Leu245=) c.699C>T (p.Leu233=) c.696C>T (p.Leu232=) c.126C>T (p.Leu42=) c.651C>T (p.Leu217=) c.159C>T (p.Leu53=) | |
| 2 | g.27367784G>C | CA425411293 | EIF2B4 | c.744C>G (p.Leu248=) c.*10C>G (n.*10C>G) c.320C>G c.741C>G (p.Leu247=) c.804C>G (p.Leu268=) n.2067C>G c.807C>G (p.Leu269=) c.735C>G (p.Leu245=) c.699C>G (p.Leu233=) c.696C>G (p.Leu232=) c.126C>G (p.Leu42=) c.651C>G (p.Leu217=) c.159C>G (p.Leu53=) | dbSNP |
| 2 | g.27367784G= | CA1240245799 | EIF2B4 | c.744C= (p.Leu248=) c.*10C= (n.*10C=) c.320C= c.741C= (p.Leu247=) c.804C= (p.Leu268=) n.2067C= c.807C= (p.Leu269=) c.735C= (p.Leu245=) c.699C= (p.Leu233=) c.696C= (p.Leu232=) c.126C= (p.Leu42=) c.651C= (p.Leu217=) c.159C= (p.Leu53=) | |
| 2 | g.27367784G>T | CA425411294 | EIF2B4 | c.744C>A (p.Leu248=) c.*10C>A (n.*10C>A) c.320C>A c.741C>A (p.Leu247=) c.804C>A (p.Leu268=) n.2067C>A c.807C>A (p.Leu269=) c.735C>A (p.Leu245=) c.699C>A (p.Leu233=) c.696C>A (p.Leu232=) c.126C>A (p.Leu42=) c.651C>A (p.Leu217=) c.159C>A (p.Leu53=) | |
| 2 | g.27367785A>C | CA346199707 | EIF2B4 | c.743T>G (p.Leu248Arg) c.*9T>G (n.*9T>G) c.319T>G c.740T>G (p.Leu247Arg) c.803T>G (p.Leu268Arg) n.2066T>G c.806T>G (p.Leu269Arg) c.734T>G (p.Leu245Arg) c.698T>G (p.Leu233Arg) c.695T>G (p.Leu232Arg) c.125T>G (p.Leu42Arg) c.650T>G (p.Leu217Arg) c.158T>G (p.Leu53Arg) | |
| 2 | g.27367785A>G | CA346199709 | EIF2B4 | c.743T>C (p.Leu248Pro) c.*9T>C (n.*9T>C) c.319T>C c.740T>C (p.Leu247Pro) c.803T>C (p.Leu268Pro) n.2066T>C c.806T>C (p.Leu269Pro) c.734T>C (p.Leu245Pro) c.698T>C (p.Leu233Pro) c.695T>C (p.Leu232Pro) c.125T>C (p.Leu42Pro) c.650T>C (p.Leu217Pro) c.158T>C (p.Leu53Pro) | |
| 2 | g.27367785A>T | CA346199710 | EIF2B4 | c.743T>A (p.Leu248His) c.*9T>A (n.*9T>A) c.319T>A c.740T>A (p.Leu247His) c.803T>A (p.Leu268His) n.2066T>A c.806T>A (p.Leu269His) c.734T>A (p.Leu245His) c.698T>A (p.Leu233His) c.695T>A (p.Leu232His) c.125T>A (p.Leu42His) c.650T>A (p.Leu217His) c.158T>A (p.Leu53His) | |
| 2 | g.27367786G>A | CA1576798 | EIF2B4 | c.742C>T (p.Leu248Phe) c.*8C>T (n.*8C>T) c.318C>T c.739C>T (p.Leu247Phe) c.802C>T (p.Leu268Phe) n.2065C>T c.805C>T (p.Leu269Phe) c.733C>T (p.Leu245Phe) c.697C>T (p.Leu233Phe) c.694C>T (p.Leu232Phe) c.124C>T (p.Leu42Phe) c.649C>T (p.Leu217Phe) c.157C>T (p.Leu53Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.27367786G>C | CA346199712 | EIF2B4 | c.742C>G (p.Leu248Val) c.*8C>G (n.*8C>G) c.318C>G c.739C>G (p.Leu247Val) c.802C>G (p.Leu268Val) n.2065C>G c.805C>G (p.Leu269Val) c.733C>G (p.Leu245Val) c.697C>G (p.Leu233Val) c.694C>G (p.Leu232Val) c.124C>G (p.Leu42Val) c.649C>G (p.Leu217Val) c.157C>G (p.Leu53Val) | |
| 2 | g.27367786G= | CA1240245802 | EIF2B4 | c.742C= (p.Leu248=) c.*8C= (n.*8C=) c.318C= c.739C= (p.Leu247=) c.802C= (p.Leu268=) n.2065C= c.805C= (p.Leu269=) c.733C= (p.Leu245=) c.697C= (p.Leu233=) c.694C= (p.Leu232=) c.124C= (p.Leu42=) c.649C= (p.Leu217=) c.157C= (p.Leu53=) | |
| 2 | g.27367786G>T | CA346199714 | EIF2B4 | c.742C>A (p.Leu248Ile) c.*8C>A (n.*8C>A) c.318C>A c.739C>A (p.Leu247Ile) c.802C>A (p.Leu268Ile) n.2065C>A c.805C>A (p.Leu269Ile) c.733C>A (p.Leu245Ile) c.697C>A (p.Leu233Ile) c.694C>A (p.Leu232Ile) c.124C>A (p.Leu42Ile) c.649C>A (p.Leu217Ile) c.157C>A (p.Leu53Ile) | |
| 2 | g.27367787T>A | CA346199718 | EIF2B4 | c.741A>T (p.Glu247Asp) c.*7A>T (n.*7A>T) c.317A>T c.738A>T (p.Glu246Asp) c.801A>T (p.Glu267Asp) n.2064A>T c.804A>T (p.Glu268Asp) c.732A>T (p.Glu244Asp) c.696A>T (p.Glu232Asp) c.693A>T (p.Glu231Asp) c.123A>T (p.Glu41Asp) c.648A>T (p.Glu216Asp) c.156A>T (p.Glu52Asp) | |
| 2 | g.27367787T>C | CA1576799 | EIF2B4 | c.741A>G (p.Glu247=) c.*7A>G (n.*7A>G) c.317A>G c.738A>G (p.Glu246=) c.801A>G (p.Glu267=) n.2064A>G c.804A>G (p.Glu268=) c.732A>G (p.Glu244=) c.696A>G (p.Glu232=) c.693A>G (p.Glu231=) c.123A>G (p.Glu41=) c.648A>G (p.Glu216=) c.156A>G (p.Glu52=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.27367787T>G | CA346199716 | EIF2B4 | c.741A>C (p.Glu247Asp) c.*7A>C (n.*7A>C) c.317A>C c.738A>C (p.Glu246Asp) c.801A>C (p.Glu267Asp) n.2064A>C c.804A>C (p.Glu268Asp) c.732A>C (p.Glu244Asp) c.696A>C (p.Glu232Asp) c.693A>C (p.Glu231Asp) c.123A>C (p.Glu41Asp) c.648A>C (p.Glu216Asp) c.156A>C (p.Glu52Asp) | |
| 2 | g.27367787T= | CA1240245806 | EIF2B4 | c.741A= (p.Glu247=) c.*7A= (n.*7A=) c.317A= c.738A= (p.Glu246=) c.801A= (p.Glu267=) n.2064A= c.804A= (p.Glu268=) c.732A= (p.Glu244=) c.696A= (p.Glu232=) c.693A= (p.Glu231=) c.123A= (p.Glu41=) c.648A= (p.Glu216=) c.156A= (p.Glu52=) | |
| 2 | g.27367788T>A | CA346199720 | EIF2B4 | c.740A>T (p.Glu247Val) c.*6A>T (n.*6A>T) c.316A>T c.737A>T (p.Glu246Val) c.800A>T (p.Glu267Val) n.2063A>T c.803A>T (p.Glu268Val) c.731A>T (p.Glu244Val) c.695A>T (p.Glu232Val) c.692A>T (p.Glu231Val) c.122A>T (p.Glu41Val) c.647A>T (p.Glu216Val) c.155A>T (p.Glu52Val) | |
| 2 | g.27367788T>C | CA346199723 | EIF2B4 | c.740A>G (p.Glu247Gly) c.*6A>G (n.*6A>G) c.316A>G c.737A>G (p.Glu246Gly) c.800A>G (p.Glu267Gly) n.2063A>G c.803A>G (p.Glu268Gly) c.731A>G (p.Glu244Gly) c.695A>G (p.Glu232Gly) c.692A>G (p.Glu231Gly) c.122A>G (p.Glu41Gly) c.647A>G (p.Glu216Gly) c.155A>G (p.Glu52Gly) | |
| 2 | g.27367788T>G | CA346199724 | EIF2B4 | c.740A>C (p.Glu247Ala) c.*6A>C (n.*6A>C) c.316A>C c.737A>C (p.Glu246Ala) c.800A>C (p.Glu267Ala) n.2063A>C c.803A>C (p.Glu268Ala) c.731A>C (p.Glu244Ala) c.695A>C (p.Glu232Ala) c.692A>C (p.Glu231Ala) c.122A>C (p.Glu41Ala) c.647A>C (p.Glu216Ala) c.155A>C (p.Glu52Ala) | |
| 2 | g.27367789C>A | CA346199726 | EIF2B4 | c.739G>T (p.Glu247Ter) c.*5G>T (n.*5G>T) c.315G>T c.736G>T (p.Glu246Ter) c.799G>T (p.Glu267Ter) n.2062G>T c.802G>T (p.Glu268Ter) c.730G>T (p.Glu244Ter) c.694G>T (p.Glu232Ter) c.691G>T (p.Glu231Ter) c.121G>T (p.Glu41Ter) c.646G>T (p.Glu216Ter) c.154G>T (p.Glu52Ter) | |
| 2 | g.27367789C= | CA1240245810 | EIF2B4 | c.739G= (p.Glu247=) c.*5G= (n.*5G=) c.315G= c.736G= (p.Glu246=) c.799G= (p.Glu267=) n.2062G= c.802G= (p.Glu268=) c.730G= (p.Glu244=) c.694G= (p.Glu232=) c.691G= (p.Glu231=) c.121G= (p.Glu41=) c.646G= (p.Glu216=) c.154G= (p.Glu52=) | |
| 2 | g.27367789C>G | CA346199727 | EIF2B4 | c.739G>C (p.Glu247Gln) c.*5G>C (n.*5G>C) c.315G>C c.736G>C (p.Glu246Gln) c.799G>C (p.Glu267Gln) n.2062G>C c.802G>C (p.Glu268Gln) c.730G>C (p.Glu244Gln) c.694G>C (p.Glu232Gln) c.691G>C (p.Glu231Gln) c.121G>C (p.Glu41Gln) c.646G>C (p.Glu216Gln) c.154G>C (p.Glu52Gln) | |
| 2 | g.27367789C>T | CA346199728 | EIF2B4 | c.739G>A (p.Glu247Lys) c.*5G>A (n.*5G>A) c.315G>A c.736G>A (p.Glu246Lys) c.799G>A (p.Glu267Lys) n.2062G>A c.802G>A (p.Glu268Lys) c.730G>A (p.Glu244Lys) c.694G>A (p.Glu232Lys) c.691G>A (p.Glu231Lys) c.121G>A (p.Glu41Lys) c.646G>A (p.Glu216Lys) c.154G>A (p.Glu52Lys) | dbSNP |
| 2 | g.27367790T>A | CA346199730 | EIF2B4 | c.738A>T (p.Glu246Asp) c.*4A>T (n.*4A>T) c.314A>T c.735A>T (p.Glu245Asp) c.798A>T (p.Glu266Asp) n.2061A>T c.801A>T (p.Glu267Asp) c.729A>T (p.Glu243Asp) c.693A>T (p.Glu231Asp) c.690A>T (p.Glu230Asp) c.120A>T (p.Glu40Asp) c.645A>T (p.Glu215Asp) c.153A>T (p.Glu51Asp) | |
| 2 | g.27367790T>C | CA425411300 | EIF2B4 | c.738A>G (p.Glu246=) c.*4A>G (n.*4A>G) c.314A>G c.735A>G (p.Glu245=) c.798A>G (p.Glu266=) n.2061A>G c.801A>G (p.Glu267=) c.729A>G (p.Glu243=) c.693A>G (p.Glu231=) c.690A>G (p.Glu230=) c.120A>G (p.Glu40=) c.645A>G (p.Glu215=) c.153A>G (p.Glu51=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.27367790T>G | CA346199732 | EIF2B4 | c.738A>C (p.Glu246Asp) c.*4A>C (n.*4A>C) c.314A>C c.735A>C (p.Glu245Asp) c.798A>C (p.Glu266Asp) n.2061A>C c.801A>C (p.Glu267Asp) c.729A>C (p.Glu243Asp) c.693A>C (p.Glu231Asp) c.690A>C (p.Glu230Asp) c.120A>C (p.Glu40Asp) c.645A>C (p.Glu215Asp) c.153A>C (p.Glu51Asp) | |
| 2 | g.27367790T= | CA1240245813 | EIF2B4 | c.738A= (p.Glu246=) c.*4A= (n.*4A=) c.314A= c.735A= (p.Glu245=) c.798A= (p.Glu266=) n.2061A= c.801A= (p.Glu267=) c.729A= (p.Glu243=) c.693A= (p.Glu231=) c.690A= (p.Glu230=) c.120A= (p.Glu40=) c.645A= (p.Glu215=) c.153A= (p.Glu51=) | |
| 2 | g.27367791T>A | CA346199735 | EIF2B4 | c.737A>T (p.Glu246Val) c.*3A>T (n.*3A>T) c.313A>T c.734A>T (p.Glu245Val) c.797A>T (p.Glu266Val) n.2060A>T c.800A>T (p.Glu267Val) c.728A>T (p.Glu243Val) c.692A>T (p.Glu231Val) c.689A>T (p.Glu230Val) c.119A>T (p.Glu40Val) c.644A>T (p.Glu215Val) c.152A>T (p.Glu51Val) | |
| 2 | g.27367791T>C | CA346199736 | EIF2B4 | c.737A>G (p.Glu246Gly) c.*3A>G (n.*3A>G) c.313A>G c.734A>G (p.Glu245Gly) c.797A>G (p.Glu266Gly) n.2060A>G c.800A>G (p.Glu267Gly) c.728A>G (p.Glu243Gly) c.692A>G (p.Glu231Gly) c.689A>G (p.Glu230Gly) c.119A>G (p.Glu40Gly) c.644A>G (p.Glu215Gly) c.152A>G (p.Glu51Gly) | |
| 2 | g.27367791T>G | CA346199737 | EIF2B4 | c.737A>C (p.Glu246Ala) c.*3A>C (n.*3A>C) c.313A>C c.734A>C (p.Glu245Ala) c.797A>C (p.Glu266Ala) n.2060A>C c.800A>C (p.Glu267Ala) c.728A>C (p.Glu243Ala) c.692A>C (p.Glu231Ala) c.689A>C (p.Glu230Ala) c.119A>C (p.Glu40Ala) c.644A>C (p.Glu215Ala) c.152A>C (p.Glu51Ala) | |
| 2 | g.27367792C>A | CA346199744 | EIF2B4 | c.736G>T (p.Glu246Ter) c.*2G>T (n.*2G>T) c.312G>T c.733G>T (p.Glu245Ter) c.796G>T (p.Glu266Ter) n.2059G>T c.799G>T (p.Glu267Ter) c.727G>T (p.Glu243Ter) c.691G>T (p.Glu231Ter) c.688G>T (p.Glu230Ter) c.118G>T (p.Glu40Ter) c.643G>T (p.Glu215Ter) c.151G>T (p.Glu51Ter) | |
| 2 | g.27367792C>G | CA346199742 | EIF2B4 | c.736G>C (p.Glu246Gln) c.*2G>C (n.*2G>C) c.312G>C c.733G>C (p.Glu245Gln) c.796G>C (p.Glu266Gln) n.2059G>C c.799G>C (p.Glu267Gln) c.727G>C (p.Glu243Gln) c.691G>C (p.Glu231Gln) c.688G>C (p.Glu230Gln) c.118G>C (p.Glu40Gln) c.643G>C (p.Glu215Gln) c.151G>C (p.Glu51Gln) | |
| 2 | g.27367792C>T | CA346199740 | EIF2B4 | c.736G>A (p.Glu246Lys) c.*2G>A (n.*2G>A) c.312G>A c.733G>A (p.Glu245Lys) c.796G>A (p.Glu266Lys) n.2059G>A c.799G>A (p.Glu267Lys) c.727G>A (p.Glu243Lys) c.691G>A (p.Glu231Lys) c.688G>A (p.Glu230Lys) c.118G>A (p.Glu40Lys) c.643G>A (p.Glu215Lys) c.151G>A (p.Glu51Lys) | |
| 2 | g.27367793A= | CA1240245816 | EIF2B4 | c.735T= (p.Asn245=) c.*1T= (n.*1T=) c.311T= c.732T= (p.Asn244=) c.795T= (p.Asn265=) n.2058T= c.798T= (p.Asn266=) c.726T= (p.Asn242=) c.690T= (p.Asn230=) c.687T= (p.Asn229=) c.117T= (p.Asn39=) c.642T= (p.Asn214=) c.150T= (p.Asn50=) | |
| 2 | g.27367793A>C | CA346199750 | EIF2B4 | c.735T>G (p.Asn245Lys) c.*1T>G (n.*1T>G) c.311T>G c.732T>G (p.Asn244Lys) c.795T>G (p.Asn265Lys) n.2058T>G c.798T>G (p.Asn266Lys) c.726T>G (p.Asn242Lys) c.690T>G (p.Asn230Lys) c.687T>G (p.Asn229Lys) c.117T>G (p.Asn39Lys) c.642T>G (p.Asn214Lys) c.150T>G (p.Asn50Lys) | dbSNP gnomAD v4 |
| 2 | g.27367793A>G | CA425411302 | EIF2B4 | c.735T>C (p.Asn245=) c.*1T>C (n.*1T>C) c.311T>C c.732T>C (p.Asn244=) c.795T>C (p.Asn265=) n.2058T>C c.798T>C (p.Asn266=) c.726T>C (p.Asn242=) c.690T>C (p.Asn230=) c.687T>C (p.Asn229=) c.117T>C (p.Asn39=) c.642T>C (p.Asn214=) c.150T>C (p.Asn50=) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.27367793A>T | CA346199747 | EIF2B4 | c.735T>A (p.Asn245Lys) c.*1T>A (n.*1T>A) c.311T>A c.732T>A (p.Asn244Lys) c.795T>A (p.Asn265Lys) n.2058T>A c.798T>A (p.Asn266Lys) c.726T>A (p.Asn242Lys) c.690T>A (p.Asn230Lys) c.687T>A (p.Asn229Lys) c.117T>A (p.Asn39Lys) c.642T>A (p.Asn214Lys) c.150T>A (p.Asn50Lys) | |
| 2 | g.27367794T>A | CA346199753 | EIF2B4 | c.734A>T (p.Asn245Ile) c.708A>T (p.Ter236Tyr) c.310A>T c.731A>T (p.Asn244Ile) c.794A>T (p.Asn265Ile) n.2057A>T c.797A>T (p.Asn266Ile) c.725A>T (p.Asn242Ile) c.687A>T (p.Ter229Tyr) c.689A>T (p.Asn230Ile) c.686A>T (p.Asn229Ile) c.116A>T (p.Asn39Ile) c.641A>T (p.Asn214Ile) c.149A>T (p.Asn50Ile) | |
| 2 | g.27367794T>C | CA346199755 | EIF2B4 | c.734A>G (p.Asn245Ser) c.708A>G (p.Ter236=) c.310A>G c.731A>G (p.Asn244Ser) c.794A>G (p.Asn265Ser) n.2057A>G c.797A>G (p.Asn266Ser) c.725A>G (p.Asn242Ser) c.687A>G (p.Ter229=) c.689A>G (p.Asn230Ser) c.686A>G (p.Asn229Ser) c.116A>G (p.Asn39Ser) c.641A>G (p.Asn214Ser) c.149A>G (p.Asn50Ser) | |
| 2 | g.27367794T>G | CA346199757 | EIF2B4 | c.734A>C (p.Asn245Thr) c.708A>C (p.Ter236Tyr) c.310A>C c.731A>C (p.Asn244Thr) c.794A>C (p.Asn265Thr) n.2057A>C c.797A>C (p.Asn266Thr) c.725A>C (p.Asn242Thr) c.687A>C (p.Ter229Tyr) c.689A>C (p.Asn230Thr) c.686A>C (p.Asn229Thr) c.116A>C (p.Asn39Thr) c.641A>C (p.Asn214Thr) c.149A>C (p.Asn50Thr) | |
| 2 | g.27367795T>A | CA346199760 | EIF2B4 | c.733A>T (p.Asn245Tyr) c.707A>T (p.Ter236Leu) c.309A>T c.730A>T (p.Asn244Tyr) c.793A>T (p.Asn265Tyr) n.2056A>T c.796A>T (p.Asn266Tyr) c.724A>T (p.Asn242Tyr) c.686A>T (p.Ter229Leu) c.688A>T (p.Asn230Tyr) c.685A>T (p.Asn229Tyr) c.115A>T (p.Asn39Tyr) c.640A>T (p.Asn214Tyr) c.148A>T (p.Asn50Tyr) | |
| 2 | g.27367795T>C | CA346199761 | EIF2B4 | c.733A>G (p.Asn245Asp) c.707A>G (p.Ter236=) c.309A>G c.730A>G (p.Asn244Asp) c.793A>G (p.Asn265Asp) n.2056A>G c.796A>G (p.Asn266Asp) c.724A>G (p.Asn242Asp) c.686A>G (p.Ter229=) c.688A>G (p.Asn230Asp) c.685A>G (p.Asn229Asp) c.115A>G (p.Asn39Asp) c.640A>G (p.Asn214Asp) c.148A>G (p.Asn50Asp) | |
| 2 | g.27367795T>G | CA346199762 | EIF2B4 | c.733A>C (p.Asn245His) c.707A>C (p.Ter236Ser) c.309A>C c.730A>C (p.Asn244His) c.793A>C (p.Asn265His) n.2056A>C c.796A>C (p.Asn266His) c.724A>C (p.Asn242His) c.686A>C (p.Ter229Ser) c.688A>C (p.Asn230His) c.685A>C (p.Asn229His) c.115A>C (p.Asn39His) c.640A>C (p.Asn214His) c.148A>C (p.Asn50His) | |
| 2 | g.27367796A>C | CA346199763 | EIF2B4 | c.732T>G (p.Pro244=) c.706T>G (p.Ter236Glu) c.308T>G c.729T>G (p.Pro243=) c.792T>G (p.Pro264=) n.2055T>G c.795T>G (p.Pro265=) c.723T>G (p.Pro241=) c.685T>G (p.Ter229Glu) c.687T>G (p.Pro229=) c.684T>G (p.Pro228=) c.114T>G (p.Pro38=) c.639T>G (p.Pro213=) c.147T>G (p.Pro49=) | |
| 2 | g.27367796A>G | CA346199764 | EIF2B4 | c.732T>C (p.Pro244=) c.706T>C (p.Ter236Gln) c.308T>C c.729T>C (p.Pro243=) c.792T>C (p.Pro264=) n.2055T>C c.795T>C (p.Pro265=) c.723T>C (p.Pro241=) c.685T>C (p.Ter229Gln) c.687T>C (p.Pro229=) c.684T>C (p.Pro228=) c.114T>C (p.Pro38=) c.639T>C (p.Pro213=) c.147T>C (p.Pro49=) | |
| 2 | g.27367796A>T | CA346199765 | EIF2B4 | c.732T>A (p.Pro244=) c.706T>A (p.Ter236Lys) c.308T>A c.729T>A (p.Pro243=) c.792T>A (p.Pro264=) n.2055T>A c.795T>A (p.Pro265=) c.723T>A (p.Pro241=) c.685T>A (p.Ter229Lys) c.687T>A (p.Pro229=) c.684T>A (p.Pro228=) c.114T>A (p.Pro38=) c.639T>A (p.Pro213=) c.147T>A (p.Pro49=) | |
| 2 | g.27367797G>A | CA346199767 | EIF2B4 | c.731C>T (p.Pro244Leu) c.705C>T (p.Ala235=) c.307C>T c.728C>T (p.Pro243Leu) c.791C>T (p.Pro264Leu) n.2054C>T c.794C>T (p.Pro265Leu) c.722C>T (p.Pro241Leu) c.684C>T (p.Ala228=) c.686C>T (p.Pro229Leu) c.683C>T (p.Pro228Leu) c.113C>T (p.Pro38Leu) c.638C>T (p.Pro213Leu) c.146C>T (p.Pro49Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.27367797G>C | CA346199768 | EIF2B4 | c.731C>G (p.Pro244Arg) c.705C>G (p.Ala235=) c.307C>G c.728C>G (p.Pro243Arg) c.791C>G (p.Pro264Arg) n.2054C>G c.794C>G (p.Pro265Arg) c.722C>G (p.Pro241Arg) c.684C>G (p.Ala228=) c.686C>G (p.Pro229Arg) c.683C>G (p.Pro228Arg) c.113C>G (p.Pro38Arg) c.638C>G (p.Pro213Arg) c.146C>G (p.Pro49Arg) | |
| 2 | g.27367797G= | CA1240245818 | EIF2B4 | c.731C= (p.Pro244=) c.705C= (p.Ala235=) c.307C= c.728C= (p.Pro243=) c.791C= (p.Pro264=) n.2054C= c.794C= (p.Pro265=) c.722C= (p.Pro241=) c.684C= (p.Ala228=) c.686C= (p.Pro229=) c.683C= (p.Pro228=) c.113C= (p.Pro38=) c.638C= (p.Pro213=) c.146C= (p.Pro49=) | |
| 2 | g.27367797G>T | CA346199770 | EIF2B4 | c.731C>A (p.Pro244His) c.705C>A (p.Ala235=) c.307C>A c.728C>A (p.Pro243His) c.791C>A (p.Pro264His) n.2054C>A c.794C>A (p.Pro265His) c.722C>A (p.Pro241His) c.684C>A (p.Ala228=) c.686C>A (p.Pro229His) c.683C>A (p.Pro228His) c.113C>A (p.Pro38His) c.638C>A (p.Pro213His) c.146C>A (p.Pro49His) | |
| 2 | g.27367798G>A | CA346199773 | EIF2B4 | c.730C>T (p.Pro244Ser) c.704C>T (p.Ala235Val) c.306C>T c.727C>T (p.Pro243Ser) c.790C>T (p.Pro264Ser) n.2053C>T c.793C>T (p.Pro265Ser) c.721C>T (p.Pro241Ser) c.683C>T (p.Ala228Val) c.685C>T (p.Pro229Ser) c.682C>T (p.Pro228Ser) c.112C>T (p.Pro38Ser) c.637C>T (p.Pro213Ser) c.145C>T (p.Pro49Ser) | gnomAD v4 |
| 2 | g.27367798G>C | CA346199771 | EIF2B4 | c.730C>G (p.Pro244Ala) c.704C>G (p.Ala235Gly) c.306C>G c.727C>G (p.Pro243Ala) c.790C>G (p.Pro264Ala) n.2053C>G c.793C>G (p.Pro265Ala) c.721C>G (p.Pro241Ala) c.683C>G (p.Ala228Gly) c.685C>G (p.Pro229Ala) c.682C>G (p.Pro228Ala) c.112C>G (p.Pro38Ala) c.637C>G (p.Pro213Ala) c.145C>G (p.Pro49Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.27367798G= | CA1240245820 | EIF2B4 | c.730C= (p.Pro244=) c.704C= (p.Ala235=) c.306C= c.727C= (p.Pro243=) c.790C= (p.Pro264=) n.2053C= c.793C= (p.Pro265=) c.721C= (p.Pro241=) c.683C= (p.Ala228=) c.685C= (p.Pro229=) c.682C= (p.Pro228=) c.112C= (p.Pro38=) c.637C= (p.Pro213=) c.145C= (p.Pro49=) | |
| 2 | g.27367798G>T | CA346199772 | EIF2B4 | c.730C>A (p.Pro244Thr) c.704C>A (p.Ala235Asp) c.306C>A c.727C>A (p.Pro243Thr) c.790C>A (p.Pro264Thr) n.2053C>A c.793C>A (p.Pro265Thr) c.721C>A (p.Pro241Thr) c.683C>A (p.Ala228Asp) c.685C>A (p.Pro229Thr) c.682C>A (p.Pro228Thr) c.112C>A (p.Pro38Thr) c.637C>A (p.Pro213Thr) c.145C>A (p.Pro49Thr) | |
| 2 | g.27367799C>A | CA346199774 | EIF2B4 | c.729G>T (p.Pro243=) c.703G>T (p.Ala235Ser) c.305G>T c.726G>T (p.Pro242=) c.789G>T (p.Pro263=) n.2052G>T c.792G>T (p.Pro264=) c.720G>T (p.Pro240=) c.682G>T (p.Ala228Ser) c.684G>T (p.Pro228=) c.681G>T (p.Pro227=) c.111G>T (p.Pro37=) c.636G>T (p.Pro212=) c.144G>T (p.Pro48=) | |
| 2 | g.27367799C= | CA1240245823 | EIF2B4 | c.729G= (p.Pro243=) c.703G= (p.Ala235=) c.305G= c.726G= (p.Pro242=) c.789G= (p.Pro263=) n.2052G= c.792G= (p.Pro264=) c.720G= (p.Pro240=) c.682G= (p.Ala228=) c.684G= (p.Pro228=) c.681G= (p.Pro227=) c.111G= (p.Pro37=) c.636G= (p.Pro212=) c.144G= (p.Pro48=) | |
| 2 | g.27367799C>G | CA346199775 | EIF2B4 | c.729G>C (p.Pro243=) c.703G>C (p.Ala235Pro) c.305G>C c.726G>C (p.Pro242=) c.789G>C (p.Pro263=) n.2052G>C c.792G>C (p.Pro264=) c.720G>C (p.Pro240=) c.682G>C (p.Ala228Pro) c.684G>C (p.Pro228=) c.681G>C (p.Pro227=) c.111G>C (p.Pro37=) c.636G>C (p.Pro212=) c.144G>C (p.Pro48=) | |
| 2 | g.27367799C>T | CA152719 | EIF2B4 | c.729G>A (p.Pro243=) c.703G>A (p.Ala235Thr) c.305G>A c.726G>A (p.Pro242=) c.789G>A (p.Pro263=) n.2052G>A c.792G>A (p.Pro264=) c.720G>A (p.Pro240=) c.682G>A (p.Ala228Thr) c.684G>A (p.Pro228=) c.681G>A (p.Pro227=) c.111G>A (p.Pro37=) c.636G>A (p.Pro212=) c.144G>A (p.Pro48=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.27367800G>A | CA1576800 | EIF2B4 | c.728C>T (p.Pro243Leu) c.702C>T (p.Thr234=) c.304C>T c.725C>T (p.Pro242Leu) c.788C>T (p.Pro263Leu) n.2051C>T c.791C>T (p.Pro264Leu) c.719C>T (p.Pro240Leu) c.681C>T (p.Thr227=) c.683C>T (p.Pro228Leu) c.680C>T (p.Pro227Leu) c.110C>T (p.Pro37Leu) c.635C>T (p.Pro212Leu) c.143C>T (p.Pro48Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 2 | g.27367800G>C | CA346199778 | EIF2B4 | c.728C>G (p.Pro243Arg) c.702C>G (p.Thr234=) c.304C>G c.725C>G (p.Pro242Arg) c.788C>G (p.Pro263Arg) n.2051C>G c.791C>G (p.Pro264Arg) c.719C>G (p.Pro240Arg) c.681C>G (p.Thr227=) c.683C>G (p.Pro228Arg) c.680C>G (p.Pro227Arg) c.110C>G (p.Pro37Arg) c.635C>G (p.Pro212Arg) c.143C>G (p.Pro48Arg) | COSMIC COSMIC |
| 2 | g.27367800G= | CA1240245828 | EIF2B4 | c.728C= (p.Pro243=) c.702C= (p.Thr234=) c.304C= c.725C= (p.Pro242=) c.788C= (p.Pro263=) n.2051C= c.791C= (p.Pro264=) c.719C= (p.Pro240=) c.681C= (p.Thr227=) c.683C= (p.Pro228=) c.680C= (p.Pro227=) c.110C= (p.Pro37=) c.635C= (p.Pro212=) c.143C= (p.Pro48=) | |
| 2 | g.27367800G>T | CA346199780 | EIF2B4 | c.728C>A (p.Pro243Gln) c.702C>A (p.Thr234=) c.304C>A c.725C>A (p.Pro242Gln) c.788C>A (p.Pro263Gln) n.2051C>A c.791C>A (p.Pro264Gln) c.719C>A (p.Pro240Gln) c.681C>A (p.Thr227=) c.683C>A (p.Pro228Gln) c.680C>A (p.Pro227Gln) c.110C>A (p.Pro37Gln) c.635C>A (p.Pro212Gln) c.143C>A (p.Pro48Gln) | |
| 2 | g.27367801G>A | CA346199782 | EIF2B4 | c.727C>T (p.Pro243Ser) c.701C>T (p.Thr234Ile) c.303C>T c.724C>T (p.Pro242Ser) c.787C>T (p.Pro263Ser) n.2050C>T c.790C>T (p.Pro264Ser) c.718C>T (p.Pro240Ser) c.680C>T (p.Thr227Ile) c.682C>T (p.Pro228Ser) c.679C>T (p.Pro227Ser) c.109C>T (p.Pro37Ser) c.634C>T (p.Pro212Ser) c.142C>T (p.Pro48Ser) | |
| 2 | g.27367801G>C | CA346199784 | EIF2B4 | c.727C>G (p.Pro243Ala) c.701C>G (p.Thr234Ser) c.303C>G c.724C>G (p.Pro242Ala) c.787C>G (p.Pro263Ala) n.2050C>G c.790C>G (p.Pro264Ala) c.718C>G (p.Pro240Ala) c.680C>G (p.Thr227Ser) c.682C>G (p.Pro228Ala) c.679C>G (p.Pro227Ala) c.109C>G (p.Pro37Ala) c.634C>G (p.Pro212Ala) c.142C>G (p.Pro48Ala) | |
| 2 | g.27367801G= | CA1240245831 | EIF2B4 | c.727C= (p.Pro243=) c.701C= (p.Thr234=) c.303C= c.724C= (p.Pro242=) c.787C= (p.Pro263=) n.2050C= c.790C= (p.Pro264=) c.718C= (p.Pro240=) c.680C= (p.Thr227=) c.682C= (p.Pro228=) c.679C= (p.Pro227=) c.109C= (p.Pro37=) c.634C= (p.Pro212=) c.142C= (p.Pro48=) | |
| 2 | g.27367801G>T | CA44512702 | EIF2B4 | c.727C>A (p.Pro243Thr) c.701C>A (p.Thr234Asn) c.303C>A c.724C>A (p.Pro242Thr) c.787C>A (p.Pro263Thr) n.2050C>A c.790C>A (p.Pro264Thr) c.718C>A (p.Pro240Thr) c.680C>A (p.Thr227Asn) c.682C>A (p.Pro228Thr) c.679C>A (p.Pro227Thr) c.109C>A (p.Pro37Thr) c.634C>A (p.Pro212Thr) c.142C>A (p.Pro48Thr) | dbSNP |
| 2 | g.27367802T>A | CA346199789 | EIF2B4 | c.726A>T (p.Thr242=) c.700A>T (p.Thr234Ser) c.302A>T c.723A>T (p.Thr241=) c.786A>T (p.Thr262=) n.2049A>T c.789A>T (p.Thr263=) c.717A>T (p.Thr239=) c.679A>T (p.Thr227Ser) c.681A>T (p.Thr227=) c.678A>T (p.Thr226=) c.108A>T (p.Thr36=) c.633A>T (p.Thr211=) c.141A>T (p.Thr47=) | |
| 2 | g.27367802T>C | CA1576801 | EIF2B4 | c.726A>G (p.Thr242=) c.700A>G (p.Thr234Ala) c.302A>G c.723A>G (p.Thr241=) c.786A>G (p.Thr262=) n.2049A>G c.789A>G (p.Thr263=) c.717A>G (p.Thr239=) c.679A>G (p.Thr227Ala) c.681A>G (p.Thr227=) c.678A>G (p.Thr226=) c.108A>G (p.Thr36=) c.633A>G (p.Thr211=) c.141A>G (p.Thr47=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.27367802T>G | CA346199796 | EIF2B4 | c.726A>C (p.Thr242=) c.700A>C (p.Thr234Pro) c.302A>C c.723A>C (p.Thr241=) c.786A>C (p.Thr262=) n.2049A>C c.789A>C (p.Thr263=) c.717A>C (p.Thr239=) c.679A>C (p.Thr227Pro) c.681A>C (p.Thr227=) c.678A>C (p.Thr226=) c.108A>C (p.Thr36=) c.633A>C (p.Thr211=) c.141A>C (p.Thr47=) | |
| 2 | g.27367802T= | CA1240245835 | EIF2B4 | c.726A= (p.Thr242=) c.700A= (p.Thr234=) c.302A= c.723A= (p.Thr241=) c.786A= (p.Thr262=) n.2049A= c.789A= (p.Thr263=) c.717A= (p.Thr239=) c.679A= (p.Thr227=) c.681A= (p.Thr227=) c.678A= (p.Thr226=) c.108A= (p.Thr36=) c.633A= (p.Thr211=) c.141A= (p.Thr47=) | |
| 2 | g.27367803G>A | CA44512711 | EIF2B4 | c.725C>T (p.Thr242Ile) c.699C>T (p.Asn233=) c.301C>T c.722C>T (p.Thr241Ile) c.785C>T (p.Thr262Ile) n.2048C>T c.788C>T (p.Thr263Ile) c.716C>T (p.Thr239Ile) c.679-1C>T (n.679-1C>T) c.680C>T (p.Thr227Ile) c.677C>T (p.Thr226Ile) c.107C>T (p.Thr36Ile) c.632C>T (p.Thr211Ile) c.140C>T (p.Thr47Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.27367803G>C | CA346199803 | EIF2B4 | c.725C>G (p.Thr242Arg) c.699C>G (p.Asn233Lys) c.301C>G c.722C>G (p.Thr241Arg) c.785C>G (p.Thr262Arg) n.2048C>G c.788C>G (p.Thr263Arg) c.716C>G (p.Thr239Arg) c.679-1C>G (n.679-1C>G) c.680C>G (p.Thr227Arg) c.677C>G (p.Thr226Arg) c.107C>G (p.Thr36Arg) c.632C>G (p.Thr211Arg) c.140C>G (p.Thr47Arg) | |
| 2 | g.27367803G= | CA1240245838 | EIF2B4 | c.725C= (p.Thr242=) c.699C= (p.Asn233=) c.301C= c.722C= (p.Thr241=) c.785C= (p.Thr262=) n.2048C= c.788C= (p.Thr263=) c.716C= (p.Thr239=) c.679-1C= (n.679-1C=) c.680C= (p.Thr227=) c.677C= (p.Thr226=) c.107C= (p.Thr36=) c.632C= (p.Thr211=) c.140C= (p.Thr47=) | |
| 2 | g.27367803G>T | CA346199799 | EIF2B4 | c.725C>A (p.Thr242Lys) c.699C>A (p.Asn233Lys) c.301C>A c.722C>A (p.Thr241Lys) c.785C>A (p.Thr262Lys) n.2048C>A c.788C>A (p.Thr263Lys) c.716C>A (p.Thr239Lys) c.679-1C>A (n.679-1C>A) c.680C>A (p.Thr227Lys) c.677C>A (p.Thr226Lys) c.107C>A (p.Thr36Lys) c.632C>A (p.Thr211Lys) c.140C>A (p.Thr47Lys) | |
| 2 | g.27367804T>A | CA346199807 | EIF2B4 | c.724A>T (p.Thr242Ser) c.698A>T (p.Asn233Ile) c.300A>T c.721A>T (p.Thr241Ser) c.784A>T (p.Thr262Ser) n.2047A>T c.787A>T (p.Thr263Ser) c.715A>T (p.Thr239Ser) c.679-2A>T (n.679-2A>T) c.679A>T (p.Thr227Ser) c.676A>T (p.Thr226Ser) c.106A>T (p.Thr36Ser) c.631A>T (p.Thr211Ser) c.139A>T (p.Thr47Ser) | |
| 2 | g.27367804T>C | CA1576802 | EIF2B4 | c.724A>G (p.Thr242Ala) c.698A>G (p.Asn233Ser) c.300A>G c.721A>G (p.Thr241Ala) c.784A>G (p.Thr262Ala) n.2047A>G c.787A>G (p.Thr263Ala) c.715A>G (p.Thr239Ala) c.679-2A>G (n.679-2A>G) c.679A>G (p.Thr227Ala) c.676A>G (p.Thr226Ala) c.106A>G (p.Thr36Ala) c.631A>G (p.Thr211Ala) c.139A>G (p.Thr47Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.27367804T>G | CA1576803 | EIF2B4 | c.724A>C (p.Thr242Pro) c.698A>C (p.Asn233Thr) c.300A>C c.721A>C (p.Thr241Pro) c.784A>C (p.Thr262Pro) n.2047A>C c.787A>C (p.Thr263Pro) c.715A>C (p.Thr239Pro) c.679-2A>C (n.679-2A>C) c.679A>C (p.Thr227Pro) c.676A>C (p.Thr226Pro) c.106A>C (p.Thr36Pro) c.631A>C (p.Thr211Pro) c.139A>C (p.Thr47Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.27367804T= | CA1240245844 | EIF2B4 | c.724A= (p.Thr242=) c.698A= (p.Asn233=) c.300A= c.721A= (p.Thr241=) c.784A= (p.Thr262=) n.2047A= c.787A= (p.Thr263=) c.715A= (p.Thr239=) c.679-2A= (n.679-2A=) c.679A= (p.Thr227=) c.676A= (p.Thr226=) c.106A= (p.Thr36=) c.631A= (p.Thr211=) c.139A= (p.Thr47=) | |
| 2 | g.27367805T>A | CA425411307 | EIF2B4 | c.723A>T (p.Thr241=) c.697A>T (p.Asn233Tyr) c.299A>T c.720A>T (p.Thr240=) c.783A>T (p.Thr261=) n.2046A>T c.786A>T (p.Thr262=) c.714A>T (p.Thr238=) c.678A>T (p.Thr226=) c.675A>T (p.Thr225=) c.105A>T (p.Thr35=) c.630A>T (p.Thr210=) c.138A>T (p.Thr46=) | |
| 2 | g.27367805T>C | CA425411308 | EIF2B4 | c.723A>G (p.Thr241=) c.697A>G (p.Asn233Asp) c.299A>G c.720A>G (p.Thr240=) c.783A>G (p.Thr261=) n.2046A>G c.786A>G (p.Thr262=) c.714A>G (p.Thr238=) c.678A>G (p.Thr226=) c.675A>G (p.Thr225=) c.105A>G (p.Thr35=) c.630A>G (p.Thr210=) c.138A>G (p.Thr46=) | |
| 2 | g.27367805T>G | CA425411309 | EIF2B4 | c.723A>C (p.Thr241=) c.697A>C (p.Asn233His) c.299A>C c.720A>C (p.Thr240=) c.783A>C (p.Thr261=) n.2046A>C c.786A>C (p.Thr262=) c.714A>C (p.Thr238=) c.678A>C (p.Thr226=) c.675A>C (p.Thr225=) c.105A>C (p.Thr35=) c.630A>C (p.Thr210=) c.138A>C (p.Thr46=) | |
| 2 | g.27367806G>A | CA346199821 | EIF2B4 | c.722C>T (p.Thr241Ile) c.696C>T (p.His232=) c.298C>T c.719C>T (p.Thr240Ile) c.782C>T (p.Thr261Ile) n.2045C>T c.785C>T (p.Thr262Ile) c.713C>T (p.Thr238Ile) c.677C>T (p.Thr226Ile) c.674C>T (p.Thr225Ile) c.104C>T (p.Thr35Ile) c.629C>T (p.Thr210Ile) c.137C>T (p.Thr46Ile) | |
| 2 | g.27367806G>C | CA346199823 | EIF2B4 | c.722C>G (p.Thr241Arg) c.696C>G (p.His232Gln) c.298C>G c.719C>G (p.Thr240Arg) c.782C>G (p.Thr261Arg) n.2045C>G c.785C>G (p.Thr262Arg) c.713C>G (p.Thr238Arg) c.677C>G (p.Thr226Arg) c.674C>G (p.Thr225Arg) c.104C>G (p.Thr35Arg) c.629C>G (p.Thr210Arg) c.137C>G (p.Thr46Arg) | |
| 2 | g.27367806G>T | CA346199826 | EIF2B4 | c.722C>A (p.Thr241Lys) c.696C>A (p.His232Gln) c.298C>A c.719C>A (p.Thr240Lys) c.782C>A (p.Thr261Lys) n.2045C>A c.785C>A (p.Thr262Lys) c.713C>A (p.Thr238Lys) c.677C>A (p.Thr226Lys) c.674C>A (p.Thr225Lys) c.104C>A (p.Thr35Lys) c.629C>A (p.Thr210Lys) c.137C>A (p.Thr46Lys) | |
| 2 | g.27367807T>A | CA346199828 | EIF2B4 | c.721A>T (p.Thr241Ser) c.695A>T (p.His232Leu) c.297A>T c.718A>T (p.Thr240Ser) c.781A>T (p.Thr261Ser) n.2044A>T c.784A>T (p.Thr262Ser) c.712A>T (p.Thr238Ser) c.676A>T (p.Thr226Ser) c.673A>T (p.Thr225Ser) c.103A>T (p.Thr35Ser) c.628A>T (p.Thr210Ser) c.136A>T (p.Thr46Ser) | |
| 2 | g.27367807T>C | CA44512730 | EIF2B4 | c.721A>G (p.Thr241Ala) c.695A>G (p.His232Arg) c.297A>G c.718A>G (p.Thr240Ala) c.781A>G (p.Thr261Ala) n.2044A>G c.784A>G (p.Thr262Ala) c.712A>G (p.Thr238Ala) c.676A>G (p.Thr226Ala) c.673A>G (p.Thr225Ala) c.103A>G (p.Thr35Ala) c.628A>G (p.Thr210Ala) c.136A>G (p.Thr46Ala) | dbSNP |
| 2 | g.27367807T>G | CA346199830 | EIF2B4 | c.721A>C (p.Thr241Pro) c.695A>C (p.His232Pro) c.297A>C c.718A>C (p.Thr240Pro) c.781A>C (p.Thr261Pro) n.2044A>C c.784A>C (p.Thr262Pro) c.712A>C (p.Thr238Pro) c.676A>C (p.Thr226Pro) c.673A>C (p.Thr225Pro) c.103A>C (p.Thr35Pro) c.628A>C (p.Thr210Pro) c.136A>C (p.Thr46Pro) | |
| 2 | g.27367807T= | CA1240245846 | EIF2B4 | c.721A= (p.Thr241=) c.695A= (p.His232=) c.297A= c.718A= (p.Thr240=) c.781A= (p.Thr261=) n.2044A= c.784A= (p.Thr262=) c.712A= (p.Thr238=) c.676A= (p.Thr226=) c.673A= (p.Thr225=) c.103A= (p.Thr35=) c.628A= (p.Thr210=) c.136A= (p.Thr46=) | |
| 2 | g.27367808G>A | CA425411311 | EIF2B4 | c.720C>T (p.Tyr240=) c.694C>T (p.His232Tyr) c.296C>T c.717C>T (p.Tyr239=) c.780C>T (p.Tyr260=) n.2043C>T c.783C>T (p.Tyr261=) c.711C>T (p.Tyr237=) c.675C>T (p.Tyr225=) c.672C>T (p.Tyr224=) c.102C>T (p.Tyr34=) c.627C>T (p.Tyr209=) c.135C>T (p.Tyr45=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.27367808G>C | CA346199833 | EIF2B4 | c.720C>G (p.Tyr240Ter) c.694C>G (p.His232Asp) c.296C>G c.717C>G (p.Tyr239Ter) c.780C>G (p.Tyr260Ter) n.2043C>G c.783C>G (p.Tyr261Ter) c.711C>G (p.Tyr237Ter) c.675C>G (p.Tyr225Ter) c.672C>G (p.Tyr224Ter) c.102C>G (p.Tyr34Ter) c.627C>G (p.Tyr209Ter) c.135C>G (p.Tyr45Ter) | |
| 2 | g.27367808G= | CA1240245849 | EIF2B4 | c.720C= (p.Tyr240=) c.694C= (p.His232=) c.296C= c.717C= (p.Tyr239=) c.780C= (p.Tyr260=) n.2043C= c.783C= (p.Tyr261=) c.711C= (p.Tyr237=) c.675C= (p.Tyr225=) c.672C= (p.Tyr224=) c.102C= (p.Tyr34=) c.627C= (p.Tyr209=) c.135C= (p.Tyr45=) | |
| 2 | g.27367808G>T | CA346199837 | EIF2B4 | c.720C>A (p.Tyr240Ter) c.694C>A (p.His232Asn) c.296C>A c.717C>A (p.Tyr239Ter) c.780C>A (p.Tyr260Ter) n.2043C>A c.783C>A (p.Tyr261Ter) c.711C>A (p.Tyr237Ter) c.675C>A (p.Tyr225Ter) c.672C>A (p.Tyr224Ter) c.102C>A (p.Tyr34Ter) c.627C>A (p.Tyr209Ter) c.135C>A (p.Tyr45Ter) | |
| 2 | g.27367809T>A | CA346199840 | EIF2B4 | c.719A>T (p.Tyr240Phe) c.693A>T (p.Leu231Phe) c.295A>T c.716A>T (p.Tyr239Phe) c.779A>T (p.Tyr260Phe) n.2042A>T c.782A>T (p.Tyr261Phe) c.710A>T (p.Tyr237Phe) c.674A>T (p.Tyr225Phe) c.671A>T (p.Tyr224Phe) c.101A>T (p.Tyr34Phe) c.626A>T (p.Tyr209Phe) c.134A>T (p.Tyr45Phe) | |
| 2 | g.27367809T>C | CA346199852 | EIF2B4 | c.719A>G (p.Tyr240Cys) c.693A>G (p.Leu231=) c.295A>G c.716A>G (p.Tyr239Cys) c.779A>G (p.Tyr260Cys) n.2042A>G c.782A>G (p.Tyr261Cys) c.710A>G (p.Tyr237Cys) c.674A>G (p.Tyr225Cys) c.671A>G (p.Tyr224Cys) c.101A>G (p.Tyr34Cys) c.626A>G (p.Tyr209Cys) c.134A>G (p.Tyr45Cys) | |
| 2 | g.27367809T>G | CA346199854 | EIF2B4 | c.719A>C (p.Tyr240Ser) c.693A>C (p.Leu231Phe) c.295A>C c.716A>C (p.Tyr239Ser) c.779A>C (p.Tyr260Ser) n.2042A>C c.782A>C (p.Tyr261Ser) c.710A>C (p.Tyr237Ser) c.674A>C (p.Tyr225Ser) c.671A>C (p.Tyr224Ser) c.101A>C (p.Tyr34Ser) c.626A>C (p.Tyr209Ser) c.134A>C (p.Tyr45Ser) | |
| 2 | g.27367810A>C | CA346199860 | EIF2B4 | c.718T>G (p.Tyr240Asp) c.692T>G (p.Leu231Ter) c.294T>G c.715T>G (p.Tyr239Asp) c.778T>G (p.Tyr260Asp) n.2041T>G c.781T>G (p.Tyr261Asp) c.709T>G (p.Tyr237Asp) c.673T>G (p.Tyr225Asp) c.670T>G (p.Tyr224Asp) c.100T>G (p.Tyr34Asp) c.625T>G (p.Tyr209Asp) c.133T>G (p.Tyr45Asp) | |
| 2 | g.27367810A>G | CA346199856 | EIF2B4 | c.718T>C (p.Tyr240His) c.692T>C (p.Leu231Ser) c.294T>C c.715T>C (p.Tyr239His) c.778T>C (p.Tyr260His) n.2041T>C c.781T>C (p.Tyr261His) c.709T>C (p.Tyr237His) c.673T>C (p.Tyr225His) c.670T>C (p.Tyr224His) c.100T>C (p.Tyr34His) c.625T>C (p.Tyr209His) c.133T>C (p.Tyr45His) | gnomAD v4 |
| 2 | g.27367810A>T | CA346199858 | EIF2B4 | c.718T>A (p.Tyr240Asn) c.692T>A (p.Leu231Ter) c.294T>A c.715T>A (p.Tyr239Asn) c.778T>A (p.Tyr260Asn) n.2041T>A c.781T>A (p.Tyr261Asn) c.709T>A (p.Tyr237Asn) c.673T>A (p.Tyr225Asn) c.670T>A (p.Tyr224Asn) c.100T>A (p.Tyr34Asn) c.625T>A (p.Tyr209Asn) c.133T>A (p.Tyr45Asn) | |
| 2 | g.27367811A>C | CA346199864 | EIF2B4 | c.717T>G (p.Asp239Glu) c.691T>G (p.Leu231Val) c.293T>G c.714T>G (p.Asp238Glu) c.777T>G (p.Asp259Glu) n.2040T>G c.780T>G (p.Asp260Glu) c.708T>G (p.Asp236Glu) c.672T>G (p.Asp224Glu) c.669T>G (p.Asp223Glu) c.99T>G (p.Asp33Glu) c.624T>G (p.Asp208Glu) c.132T>G (p.Asp44Glu) | |
| 2 | g.27367811A>G | CA425411346 | EIF2B4 | c.717T>C (p.Asp239=) c.691T>C (p.Leu231=) c.293T>C c.714T>C (p.Asp238=) c.777T>C (p.Asp259=) n.2040T>C c.780T>C (p.Asp260=) c.708T>C (p.Asp236=) c.672T>C (p.Asp224=) c.669T>C (p.Asp223=) c.99T>C (p.Asp33=) c.624T>C (p.Asp208=) c.132T>C (p.Asp44=) | |
| 2 | g.27367811A>T | CA346199866 | EIF2B4 | c.717T>A (p.Asp239Glu) c.691T>A (p.Leu231Ile) c.293T>A c.714T>A (p.Asp238Glu) c.777T>A (p.Asp259Glu) n.2040T>A c.780T>A (p.Asp260Glu) c.708T>A (p.Asp236Glu) c.672T>A (p.Asp224Glu) c.669T>A (p.Asp223Glu) c.99T>A (p.Asp33Glu) c.624T>A (p.Asp208Glu) c.132T>A (p.Asp44Glu) | |
| 2 | g.27367812T>A | CA346199870 | EIF2B4 | c.716A>T (p.Asp239Val) c.690A>T (p.Gly230=) c.292A>T c.713A>T (p.Asp238Val) c.776A>T (p.Asp259Val) n.2039A>T c.779A>T (p.Asp260Val) c.707A>T (p.Asp236Val) c.671A>T (p.Asp224Val) c.668A>T (p.Asp223Val) c.98A>T (p.Asp33Val) c.623A>T (p.Asp208Val) c.131A>T (p.Asp44Val) | |
| 2 | g.27367812T>C | CA346199872 | EIF2B4 | c.716A>G (p.Asp239Gly) c.690A>G (p.Gly230=) c.292A>G c.713A>G (p.Asp238Gly) c.776A>G (p.Asp259Gly) n.2039A>G c.779A>G (p.Asp260Gly) c.707A>G (p.Asp236Gly) c.671A>G (p.Asp224Gly) c.668A>G (p.Asp223Gly) c.98A>G (p.Asp33Gly) c.623A>G (p.Asp208Gly) c.131A>G (p.Asp44Gly) | |
| 2 | g.27367812T>G | CA346199873 | EIF2B4 | c.716A>C (p.Asp239Ala) c.690A>C (p.Gly230=) c.292A>C c.713A>C (p.Asp238Ala) c.776A>C (p.Asp259Ala) n.2039A>C c.779A>C (p.Asp260Ala) c.707A>C (p.Asp236Ala) c.671A>C (p.Asp224Ala) c.668A>C (p.Asp223Ala) c.98A>C (p.Asp33Ala) c.623A>C (p.Asp208Ala) c.131A>C (p.Asp44Ala) | |
| 2 | g.27367813C>A | CA346199874 | EIF2B4 | c.715G>T (p.Asp239Tyr) c.689G>T (p.Gly230Val) c.291G>T c.712G>T (p.Asp238Tyr) c.775G>T (p.Asp259Tyr) n.2038G>T c.778G>T (p.Asp260Tyr) c.706G>T (p.Asp236Tyr) c.670G>T (p.Asp224Tyr) c.667G>T (p.Asp223Tyr) c.97G>T (p.Asp33Tyr) c.622G>T (p.Asp208Tyr) c.130G>T (p.Asp44Tyr) | |
| 2 | g.27367813C= | CA1240245852 | EIF2B4 | c.715G= (p.Asp239=) c.689G= (p.Gly230=) c.291G= c.712G= (p.Asp238=) c.775G= (p.Asp259=) n.2038G= c.778G= (p.Asp260=) c.706G= (p.Asp236=) c.670G= (p.Asp224=) c.667G= (p.Asp223=) c.97G= (p.Asp33=) c.622G= (p.Asp208=) c.130G= (p.Asp44=) | |
| 2 | g.27367813C>G | CA346199875 | EIF2B4 | c.715G>C (p.Asp239His) c.689G>C (p.Gly230Ala) c.291G>C c.712G>C (p.Asp238His) c.775G>C (p.Asp259His) n.2038G>C c.778G>C (p.Asp260His) c.706G>C (p.Asp236His) c.670G>C (p.Asp224His) c.667G>C (p.Asp223His) c.97G>C (p.Asp33His) c.622G>C (p.Asp208His) c.130G>C (p.Asp44His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.27367813C>T | CA346199876 | EIF2B4 | c.715G>A (p.Asp239Asn) c.689G>A (p.Gly230Glu) c.291G>A c.712G>A (p.Asp238Asn) c.775G>A (p.Asp259Asn) n.2038G>A c.778G>A (p.Asp260Asn) c.706G>A (p.Asp236Asn) c.670G>A (p.Asp224Asn) c.667G>A (p.Asp223Asn) c.97G>A (p.Asp33Asn) c.622G>A (p.Asp208Asn) c.130G>A (p.Asp44Asn) | |
| 2 | g.27367814C>A | CA346199877 | EIF2B4 | c.714G>T (p.Gln238His) c.688G>T (p.Gly230Ter) c.290G>T c.711G>T (p.Gln237His) c.774G>T (p.Gln258His) n.2037G>T c.777G>T (p.Gln259His) c.705G>T (p.Gln235His) c.669G>T (p.Gln223His) c.666G>T (p.Gln222His) c.96G>T (p.Gln32His) c.621G>T (p.Gln207His) c.129G>T (p.Gln43His) | |
| 2 | g.27367814C>G | CA346199878 | EIF2B4 | c.714G>C (p.Gln238His) c.688G>C (p.Gly230Arg) c.290G>C c.711G>C (p.Gln237His) c.774G>C (p.Gln258His) n.2037G>C c.777G>C (p.Gln259His) c.705G>C (p.Gln235His) c.669G>C (p.Gln223His) c.666G>C (p.Gln222His) c.96G>C (p.Gln32His) c.621G>C (p.Gln207His) c.129G>C (p.Gln43His) | |
| 2 | g.27367814C>T | CA425411350 | EIF2B4 | c.714G>A (p.Gln238=) c.688G>A (p.Gly230Arg) c.290G>A c.711G>A (p.Gln237=) c.774G>A (p.Gln258=) n.2037G>A c.777G>A (p.Gln259=) c.705G>A (p.Gln235=) c.669G>A (p.Gln223=) c.666G>A (p.Gln222=) c.96G>A (p.Gln32=) c.621G>A (p.Gln207=) c.129G>A (p.Gln43=) | |
| 2 | g.27367815T>A | CA346199882 | EIF2B4 | c.713A>T (p.Gln238Leu) c.687A>T (p.Ser229=) c.289A>T c.710A>T (p.Gln237Leu) c.773A>T (p.Gln258Leu) n.2036A>T c.776A>T (p.Gln259Leu) c.704A>T (p.Gln235Leu) c.668A>T (p.Gln223Leu) c.665A>T (p.Gln222Leu) c.95A>T (p.Gln32Leu) c.620A>T (p.Gln207Leu) c.128A>T (p.Gln43Leu) | |
| 2 | g.27367815T>C | CA346199884 | EIF2B4 | c.713A>G (p.Gln238Arg) c.687A>G (p.Ser229=) c.289A>G c.710A>G (p.Gln237Arg) c.773A>G (p.Gln258Arg) n.2036A>G c.776A>G (p.Gln259Arg) c.704A>G (p.Gln235Arg) c.668A>G (p.Gln223Arg) c.665A>G (p.Gln222Arg) c.95A>G (p.Gln32Arg) c.620A>G (p.Gln207Arg) c.128A>G (p.Gln43Arg) | |
| 2 | g.27367815T>G | CA346199880 | EIF2B4 | c.713A>C (p.Gln238Pro) c.687A>C (p.Ser229=) c.289A>C c.710A>C (p.Gln237Pro) c.773A>C (p.Gln258Pro) n.2036A>C c.776A>C (p.Gln259Pro) c.704A>C (p.Gln235Pro) c.668A>C (p.Gln223Pro) c.665A>C (p.Gln222Pro) c.95A>C (p.Gln32Pro) c.620A>C (p.Gln207Pro) c.128A>C (p.Gln43Pro) | |
| 2 | g.27367816G>A | CA346199887 | EIF2B4 | c.712C>T (p.Gln238Ter) c.686C>T (p.Ser229Leu) c.288C>T c.709C>T (p.Gln237Ter) c.772C>T (p.Gln258Ter) n.2035C>T c.775C>T (p.Gln259Ter) c.703C>T (p.Gln235Ter) c.667C>T (p.Gln223Ter) c.664C>T (p.Gln222Ter) c.94C>T (p.Gln32Ter) c.619C>T (p.Gln207Ter) c.127C>T (p.Gln43Ter) | |
| 2 | g.27367816G>C | CA346199890 | EIF2B4 | c.712C>G (p.Gln238Glu) c.686C>G (p.Ser229Ter) c.288C>G c.709C>G (p.Gln237Glu) c.772C>G (p.Gln258Glu) n.2035C>G c.775C>G (p.Gln259Glu) c.703C>G (p.Gln235Glu) c.667C>G (p.Gln223Glu) c.664C>G (p.Gln222Glu) c.94C>G (p.Gln32Glu) c.619C>G (p.Gln207Glu) c.127C>G (p.Gln43Glu) | dbSNP |
| 2 | g.27367816G= | CA1240245855 | EIF2B4 | c.712C= (p.Gln238=) c.686C= (p.Ser229=) c.288C= c.709C= (p.Gln237=) c.772C= (p.Gln258=) n.2035C= c.775C= (p.Gln259=) c.703C= (p.Gln235=) c.667C= (p.Gln223=) c.664C= (p.Gln222=) c.94C= (p.Gln32=) c.619C= (p.Gln207=) c.127C= (p.Gln43=) | |
| 2 | g.27367816G>T | CA346199891 | EIF2B4 | c.712C>A (p.Gln238Lys) c.686C>A (p.Ser229Ter) c.288C>A c.709C>A (p.Gln237Lys) c.772C>A (p.Gln258Lys) n.2035C>A c.775C>A (p.Gln259Lys) c.703C>A (p.Gln235Lys) c.667C>A (p.Gln223Lys) c.664C>A (p.Gln222Lys) c.94C>A (p.Gln32Lys) c.619C>A (p.Gln207Lys) c.127C>A (p.Gln43Lys) | gnomAD v4 |
| 2 | g.27367817A= | CA1240245859 | EIF2B4 | c.711T= (p.Ile237=) c.685T= (p.Ser229=) c.287T= c.708T= (p.Ile236=) c.771T= (p.Ile257=) n.2034T= c.774T= (p.Ile258=) c.702T= (p.Ile234=) c.666T= (p.Ile222=) c.663T= (p.Ile221=) c.93T= (p.Ile31=) c.618T= (p.Ile206=) c.126T= (p.Ile42=) | |
| 2 | g.27367817A>C | CA346199895 | EIF2B4 | c.711T>G (p.Ile237Met) c.685T>G (p.Ser229Ala) c.287T>G c.708T>G (p.Ile236Met) c.771T>G (p.Ile257Met) n.2034T>G c.774T>G (p.Ile258Met) c.702T>G (p.Ile234Met) c.666T>G (p.Ile222Met) c.663T>G (p.Ile221Met) c.93T>G (p.Ile31Met) c.618T>G (p.Ile206Met) c.126T>G (p.Ile42Met) | |
| 2 | g.27367817A>G | CA425411371 | EIF2B4 | c.711T>C (p.Ile237=) c.685T>C (p.Ser229Pro) c.287T>C c.708T>C (p.Ile236=) c.771T>C (p.Ile257=) n.2034T>C c.774T>C (p.Ile258=) c.702T>C (p.Ile234=) c.666T>C (p.Ile222=) c.663T>C (p.Ile221=) c.93T>C (p.Ile31=) c.618T>C (p.Ile206=) c.126T>C (p.Ile42=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.27367817A>T | CA425411372 | EIF2B4 | c.711T>A (p.Ile237=) c.685T>A (p.Ser229Thr) c.287T>A c.708T>A (p.Ile236=) c.771T>A (p.Ile257=) n.2034T>A c.774T>A (p.Ile258=) c.702T>A (p.Ile234=) c.666T>A (p.Ile222=) c.663T>A (p.Ile221=) c.93T>A (p.Ile31=) c.618T>A (p.Ile206=) c.126T>A (p.Ile42=) | |
| 2 | g.27367818A>C | CA346199911 | EIF2B4 | c.710T>G (p.Ile237Ser) c.684T>G (p.Asp228Glu) c.286T>G c.707T>G (p.Ile236Ser) c.770T>G (p.Ile257Ser) n.2033T>G c.773T>G (p.Ile258Ser) c.701T>G (p.Ile234Ser) c.665T>G (p.Ile222Ser) c.662T>G (p.Ile221Ser) c.92T>G (p.Ile31Ser) c.617T>G (p.Ile206Ser) c.125T>G (p.Ile42Ser) | |
| 2 | g.27367818A>G | CA346199900 | EIF2B4 | c.710T>C (p.Ile237Thr) c.684T>C (p.Asp228=) c.286T>C c.707T>C (p.Ile236Thr) c.770T>C (p.Ile257Thr) n.2033T>C c.773T>C (p.Ile258Thr) c.701T>C (p.Ile234Thr) c.665T>C (p.Ile222Thr) c.662T>C (p.Ile221Thr) c.92T>C (p.Ile31Thr) c.617T>C (p.Ile206Thr) c.125T>C (p.Ile42Thr) | gnomAD v4 |
| 2 | g.27367818A>T | CA346199898 | EIF2B4 | c.710T>A (p.Ile237Asn) c.684T>A (p.Asp228Glu) c.286T>A c.707T>A (p.Ile236Asn) c.770T>A (p.Ile257Asn) n.2033T>A c.773T>A (p.Ile258Asn) c.701T>A (p.Ile234Asn) c.665T>A (p.Ile222Asn) c.662T>A (p.Ile221Asn) c.92T>A (p.Ile31Asn) c.617T>A (p.Ile206Asn) c.125T>A (p.Ile42Asn) | |
| 2 | g.27367819T>A | CA346199914 | EIF2B4 | c.709A>T (p.Ile237Phe) c.683A>T (p.Asp228Val) c.285A>T c.706A>T (p.Ile236Phe) c.769A>T (p.Ile257Phe) n.2032A>T c.772A>T (p.Ile258Phe) c.700A>T (p.Ile234Phe) c.664A>T (p.Ile222Phe) c.661A>T (p.Ile221Phe) c.91A>T (p.Ile31Phe) c.616A>T (p.Ile206Phe) c.124A>T (p.Ile42Phe) | |
| 2 | g.27367819T>C | CA346199916 | EIF2B4 | c.709A>G (p.Ile237Val) c.683A>G (p.Asp228Gly) c.285A>G c.706A>G (p.Ile236Val) c.769A>G (p.Ile257Val) n.2032A>G c.772A>G (p.Ile258Val) c.700A>G (p.Ile234Val) c.664A>G (p.Ile222Val) c.661A>G (p.Ile221Val) c.91A>G (p.Ile31Val) c.616A>G (p.Ile206Val) c.124A>G (p.Ile42Val) | |
| 2 | g.27367819T>G | CA346199918 | EIF2B4 | c.709A>C (p.Ile237Leu) c.683A>C (p.Asp228Ala) c.285A>C c.706A>C (p.Ile236Leu) c.769A>C (p.Ile257Leu) n.2032A>C c.772A>C (p.Ile258Leu) c.700A>C (p.Ile234Leu) c.664A>C (p.Ile222Leu) c.661A>C (p.Ile221Leu) c.91A>C (p.Ile31Leu) c.616A>C (p.Ile206Leu) c.124A>C (p.Ile42Leu) | |
| 2 | g.27367820C>A | CA425411387 | EIF2B4 | c.708G>T (p.Val236=) c.682G>T (p.Asp228Tyr) c.284G>T c.705G>T (p.Val235=) c.768G>T (p.Val256=) n.2031G>T c.771G>T (p.Val257=) c.699G>T (p.Val233=) c.663G>T (p.Val221=) c.660G>T (p.Val220=) c.90G>T (p.Val30=) c.615G>T (p.Val205=) c.123G>T (p.Val41=) | |
| 2 | g.27367820C>G | CA425411385 | EIF2B4 | c.708G>C (p.Val236=) c.682G>C (p.Asp228His) c.284G>C c.705G>C (p.Val235=) c.768G>C (p.Val256=) n.2031G>C c.771G>C (p.Val257=) c.699G>C (p.Val233=) c.663G>C (p.Val221=) c.660G>C (p.Val220=) c.90G>C (p.Val30=) c.615G>C (p.Val205=) c.123G>C (p.Val41=) | |
| 2 | g.27367820C>T | CA425411378 | EIF2B4 | c.708G>A (p.Val236=) c.682G>A (p.Asp228Asn) c.284G>A c.705G>A (p.Val235=) c.768G>A (p.Val256=) n.2031G>A c.771G>A (p.Val257=) c.699G>A (p.Val233=) c.663G>A (p.Val221=) c.660G>A (p.Val220=) c.90G>A (p.Val30=) c.615G>A (p.Val205=) c.123G>A (p.Val41=) | |
| 2 | g.27367821A= | CA1240245861 | EIF2B4 | c.707T= (p.Val236=) c.681T= (p.Gly227=) c.283T= c.704T= (p.Val235=) c.767T= (p.Val256=) n.2030T= c.770T= (p.Val257=) c.698T= (p.Val233=) c.662T= (p.Val221=) c.659T= (p.Val220=) c.89T= (p.Val30=) c.614T= (p.Val205=) c.122T= (p.Val41=) | |
| 2 | g.27367821A>C | CA346199920 | EIF2B4 | c.707T>G (p.Val236Gly) c.681T>G (p.Gly227=) c.283T>G c.704T>G (p.Val235Gly) c.767T>G (p.Val256Gly) n.2030T>G c.770T>G (p.Val257Gly) c.698T>G (p.Val233Gly) c.662T>G (p.Val221Gly) c.659T>G (p.Val220Gly) c.89T>G (p.Val30Gly) c.614T>G (p.Val205Gly) c.122T>G (p.Val41Gly) | |
| 2 | g.27367821A>G | CA346199922 | EIF2B4 | c.707T>C (p.Val236Ala) c.681T>C (p.Gly227=) c.283T>C c.704T>C (p.Val235Ala) c.767T>C (p.Val256Ala) n.2030T>C c.770T>C (p.Val257Ala) c.698T>C (p.Val233Ala) c.662T>C (p.Val221Ala) c.659T>C (p.Val220Ala) c.89T>C (p.Val30Ala) c.614T>C (p.Val205Ala) c.122T>C (p.Val41Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.27367821A>T | CA346199924 | EIF2B4 | c.707T>A (p.Val236Glu) c.681T>A (p.Gly227=) c.283T>A c.704T>A (p.Val235Glu) c.767T>A (p.Val256Glu) n.2030T>A c.770T>A (p.Val257Glu) c.698T>A (p.Val233Glu) c.662T>A (p.Val221Glu) c.659T>A (p.Val220Glu) c.89T>A (p.Val30Glu) c.614T>A (p.Val205Glu) c.122T>A (p.Val41Glu) | |
| 2 | g.27367822C>A | CA346199926 | EIF2B4 | c.706G>T (p.Val236Leu) c.680G>T (p.Gly227Val) c.282G>T c.703G>T (p.Val235Leu) c.766G>T (p.Val256Leu) n.2029G>T c.769G>T (p.Val257Leu) c.697G>T (p.Val233Leu) c.661G>T (p.Val221Leu) c.658G>T (p.Val220Leu) c.88G>T (p.Val30Leu) c.613G>T (p.Val205Leu) c.121G>T (p.Val41Leu) | |
| 2 | g.27367822C>G | CA346199935 | EIF2B4 | c.706G>C (p.Val236Leu) c.680G>C (p.Gly227Ala) c.282G>C c.703G>C (p.Val235Leu) c.766G>C (p.Val256Leu) n.2029G>C c.769G>C (p.Val257Leu) c.697G>C (p.Val233Leu) c.661G>C (p.Val221Leu) c.658G>C (p.Val220Leu) c.88G>C (p.Val30Leu) c.613G>C (p.Val205Leu) c.121G>C (p.Val41Leu) | |
| 2 | g.27367822C>T | CA346199932 | EIF2B4 | c.706G>A (p.Val236Met) c.680G>A (p.Gly227Asp) c.282G>A c.703G>A (p.Val235Met) c.766G>A (p.Val256Met) n.2029G>A c.769G>A (p.Val257Met) c.697G>A (p.Val233Met) c.661G>A (p.Val221Met) c.658G>A (p.Val220Met) c.88G>A (p.Val30Met) c.613G>A (p.Val205Met) c.121G>A (p.Val41Met) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.27367823C>A | CA346199942 | EIF2B4 | c.706-1G>T (n.706-1G>T) c.680-1G>T (n.680-1G>T) c.282-1G>T c.703-1G>T (n.703-1G>T) c.766-1G>T (n.766-1G>T) n.2028G>T c.769-1G>T (n.769-1G>T) c.697-1G>T (n.697-1G>T) c.661-1G>T (n.661-1G>T) c.658-1G>T (n.658-1G>T) c.88-1G>T (n.88-1G>T) c.613-1G>T (n.613-1G>T) c.121-1G>T (n.121-1G>T) | |
| 2 | g.27367823C>G | CA346199948 | EIF2B4 | c.706-1G>C (n.706-1G>C) c.680-1G>C (n.680-1G>C) c.282-1G>C c.703-1G>C (n.703-1G>C) c.766-1G>C (n.766-1G>C) n.2028G>C c.769-1G>C (n.769-1G>C) c.697-1G>C (n.697-1G>C) c.661-1G>C (n.661-1G>C) c.658-1G>C (n.658-1G>C) c.88-1G>C (n.88-1G>C) c.613-1G>C (n.613-1G>C) c.121-1G>C (n.121-1G>C) | |
| 2 | g.27367823C>T | CA346199951 | EIF2B4 | c.706-1G>A (n.706-1G>A) c.680-1G>A (n.680-1G>A) c.282-1G>A c.703-1G>A (n.703-1G>A) c.766-1G>A (n.766-1G>A) n.2028G>A c.769-1G>A (n.769-1G>A) c.697-1G>A (n.697-1G>A) c.661-1G>A (n.661-1G>A) c.658-1G>A (n.658-1G>A) c.88-1G>A (n.88-1G>A) c.613-1G>A (n.613-1G>A) c.121-1G>A (n.121-1G>A) | |
| 2 | g.27367824T>A | CA346199954 | EIF2B4 | c.706-2A>T (n.706-2A>T) c.680-2A>T (n.680-2A>T) c.282-2A>T c.703-2A>T (n.703-2A>T) c.766-2A>T (n.766-2A>T) n.2027A>T c.769-2A>T (n.769-2A>T) c.697-2A>T (n.697-2A>T) c.661-2A>T (n.661-2A>T) c.658-2A>T (n.658-2A>T) c.88-2A>T (n.88-2A>T) c.613-2A>T (n.613-2A>T) c.121-2A>T (n.121-2A>T) | |
| 2 | g.27367824T>C | CA346199956 | EIF2B4 | c.706-2A>G (n.706-2A>G) c.680-2A>G (n.680-2A>G) c.282-2A>G c.703-2A>G (n.703-2A>G) c.766-2A>G (n.766-2A>G) n.2027A>G c.769-2A>G (n.769-2A>G) c.697-2A>G (n.697-2A>G) c.661-2A>G (n.661-2A>G) c.658-2A>G (n.658-2A>G) c.88-2A>G (n.88-2A>G) c.613-2A>G (n.613-2A>G) c.121-2A>G (n.121-2A>G) | |
| 2 | g.27367824T>G | CA346199959 | EIF2B4 | c.706-2A>C (n.706-2A>C) c.680-2A>C (n.680-2A>C) c.282-2A>C c.703-2A>C (n.703-2A>C) c.766-2A>C (n.766-2A>C) n.2027A>C c.769-2A>C (n.769-2A>C) c.697-2A>C (n.697-2A>C) c.661-2A>C (n.661-2A>C) c.658-2A>C (n.658-2A>C) c.88-2A>C (n.88-2A>C) c.613-2A>C (n.613-2A>C) c.121-2A>C (n.121-2A>C) | |
| 2 | g.27367825A= | CA1240245863 | EIF2B4 | c.706-3T= (n.706-3T=) c.680-3T= (n.680-3T=) c.282-3T= c.703-3T= (n.703-3T=) c.766-3T= (n.766-3T=) n.2026T= c.769-3T= (n.769-3T=) c.697-3T= (n.697-3T=) c.661-3T= (n.661-3T=) c.658-3T= (n.658-3T=) c.88-3T= (n.88-3T=) c.613-3T= (n.613-3T=) c.121-3T= (n.121-3T=) | |
| 2 | g.27367825A>G | CA1576804 | EIF2B4 | c.706-3T>C (n.706-3T>C) c.680-3T>C (n.680-3T>C) c.282-3T>C c.703-3T>C (n.703-3T>C) c.766-3T>C (n.766-3T>C) n.2026T>C c.769-3T>C (n.769-3T>C) c.697-3T>C (n.697-3T>C) c.661-3T>C (n.661-3T>C) c.658-3T>C (n.658-3T>C) c.88-3T>C (n.88-3T>C) c.613-3T>C (n.613-3T>C) c.121-3T>C (n.121-3T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.27367826T>A | CA1576806 | EIF2B4 | c.706-4A>T (n.706-4A>T) c.680-4A>T (n.680-4A>T) c.282-4A>T c.703-4A>T (n.703-4A>T) c.766-4A>T (n.766-4A>T) n.2025A>T c.769-4A>T (n.769-4A>T) c.697-4A>T (n.697-4A>T) c.661-4A>T (n.661-4A>T) c.658-4A>T (n.658-4A>T) c.88-4A>T (n.88-4A>T) c.613-4A>T (n.613-4A>T) c.121-4A>T (n.121-4A>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.27367826T>C | CA1576805 | EIF2B4 | c.706-4A>G (n.706-4A>G) c.680-4A>G (n.680-4A>G) c.282-4A>G c.703-4A>G (n.703-4A>G) c.766-4A>G (n.766-4A>G) n.2025A>G c.769-4A>G (n.769-4A>G) c.697-4A>G (n.697-4A>G) c.661-4A>G (n.661-4A>G) c.658-4A>G (n.658-4A>G) c.88-4A>G (n.88-4A>G) c.613-4A>G (n.613-4A>G) c.121-4A>G (n.121-4A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.27367826T= | CA1240245865 | EIF2B4 | c.706-4A= (n.706-4A=) c.680-4A= (n.680-4A=) c.282-4A= c.703-4A= (n.703-4A=) c.766-4A= (n.766-4A=) n.2025A= c.769-4A= (n.769-4A=) c.697-4A= (n.697-4A=) c.661-4A= (n.661-4A=) c.658-4A= (n.658-4A=) c.88-4A= (n.88-4A=) c.613-4A= (n.613-4A=) c.121-4A= (n.121-4A=) | |
| 2 | g.27367828G>A | CA2576981044 | EIF2B4 | c.706-6C>T (n.706-6C>T) c.680-6C>T (n.680-6C>T) c.282-6C>T c.703-6C>T (n.703-6C>T) c.766-6C>T (n.766-6C>T) n.2023C>T c.769-6C>T (n.769-6C>T) c.697-6C>T (n.697-6C>T) c.661-6C>T (n.661-6C>T) c.658-6C>T (n.658-6C>T) c.88-6C>T (n.88-6C>T) c.613-6C>T (n.613-6C>T) c.121-6C>T (n.121-6C>T) | gnomAD v4 |
| 2 | g.27367829G>A | CA44512753 | EIF2B4 | c.706-7C>T (n.706-7C>T) c.680-7C>T (n.680-7C>T) c.282-7C>T c.703-7C>T (n.703-7C>T) c.766-7C>T (n.766-7C>T) n.2022C>T c.769-7C>T (n.769-7C>T) c.697-7C>T (n.697-7C>T) c.661-7C>T (n.661-7C>T) c.658-7C>T (n.658-7C>T) c.88-7C>T (n.88-7C>T) c.613-7C>T (n.613-7C>T) c.121-7C>T (n.121-7C>T) | dbSNP |
| 2 | g.27367829G= | CA1240245867 | EIF2B4 | c.706-7C= (n.706-7C=) c.680-7C= (n.680-7C=) c.282-7C= c.703-7C= (n.703-7C=) c.766-7C= (n.766-7C=) n.2022C= c.769-7C= (n.769-7C=) c.697-7C= (n.697-7C=) c.661-7C= (n.661-7C=) c.658-7C= (n.658-7C=) c.88-7C= (n.88-7C=) c.613-7C= (n.613-7C=) c.121-7C= (n.121-7C=) | |
| 2 | g.27367830G>A | CA531448400 | EIF2B4 | c.706-8C>T (n.706-8C>T) c.680-8C>T (n.680-8C>T) c.282-8C>T c.703-8C>T (n.703-8C>T) c.766-8C>T (n.766-8C>T) n.2021C>T c.769-8C>T (n.769-8C>T) c.697-8C>T (n.697-8C>T) c.661-8C>T (n.661-8C>T) c.658-8C>T (n.658-8C>T) c.88-8C>T (n.88-8C>T) c.613-8C>T (n.613-8C>T) c.121-8C>T (n.121-8C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.27367830G= | CA1240245870 | EIF2B4 | c.706-8C= (n.706-8C=) c.680-8C= (n.680-8C=) c.282-8C= c.703-8C= (n.703-8C=) c.766-8C= (n.766-8C=) n.2021C= c.769-8C= (n.769-8C=) c.697-8C= (n.697-8C=) c.661-8C= (n.661-8C=) c.658-8C= (n.658-8C=) c.88-8C= (n.88-8C=) c.613-8C= (n.613-8C=) c.121-8C= (n.121-8C=) | |
| 2 | g.27367830G>T | CA1576807 | EIF2B4 | c.706-8C>A (n.706-8C>A) c.680-8C>A (n.680-8C>A) c.282-8C>A c.703-8C>A (n.703-8C>A) c.766-8C>A (n.766-8C>A) n.2021C>A c.769-8C>A (n.769-8C>A) c.697-8C>A (n.697-8C>A) c.661-8C>A (n.661-8C>A) c.658-8C>A (n.658-8C>A) c.88-8C>A (n.88-8C>A) c.613-8C>A (n.613-8C>A) c.121-8C>A (n.121-8C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.27367832A>G | CA2576981045 | EIF2B4 | c.706-10T>C (n.706-10T>C) c.680-10T>C (n.680-10T>C) c.282-10T>C c.703-10T>C (n.703-10T>C) c.766-10T>C (n.766-10T>C) n.2019T>C c.769-10T>C (n.769-10T>C) c.697-10T>C (n.697-10T>C) c.661-10T>C (n.661-10T>C) c.658-10T>C (n.658-10T>C) c.88-10T>C (n.88-10T>C) c.613-10T>C (n.613-10T>C) c.121-10T>C (n.121-10T>C) | gnomAD v4 |
| 2 | g.27367832dup | CA2739274256 | EIF2B4 | c.706-10dup (n.706-10dup) c.680-10dup (n.680-10dup) c.282-10dup c.703-10dup (n.703-10dup) c.766-10dup (n.766-10dup) n.2019dup c.769-10dup (n.769-10dup) c.697-10dup (n.697-10dup) c.661-10dup (n.661-10dup) c.658-10dup (n.658-10dup) c.88-10dup (n.88-10dup) c.613-10dup (n.613-10dup) c.121-10dup (n.121-10dup) | ClinVar |
| 2 | g.27367833C>T | CA646592529 | EIF2B4 | c.706-11G>A (n.706-11G>A) c.680-11G>A (n.680-11G>A) c.282-11G>A c.703-11G>A (n.703-11G>A) c.766-11G>A (n.766-11G>A) n.2018G>A c.769-11G>A (n.769-11G>A) c.697-11G>A (n.697-11G>A) c.661-11G>A (n.661-11G>A) c.658-11G>A (n.658-11G>A) c.88-11G>A (n.88-11G>A) c.613-11G>A (n.613-11G>A) c.121-11G>A (n.121-11G>A) | COSMIC |
| 2 | g.27367834A>G | CA2658337672 | EIF2B4 | c.706-12T>C (n.706-12T>C) c.680-12T>C (n.680-12T>C) c.282-12T>C c.703-12T>C (n.703-12T>C) c.766-12T>C (n.766-12T>C) n.2017T>C c.769-12T>C (n.769-12T>C) c.697-12T>C (n.697-12T>C) c.661-12T>C (n.661-12T>C) c.658-12T>C (n.658-12T>C) c.88-12T>C (n.88-12T>C) c.613-12T>C (n.613-12T>C) c.121-12T>C (n.121-12T>C) | gnomAD v4 |
| 2 | g.27367836A= | CA1240245872 | EIF2B4 | c.706-14T= (n.706-14T=) c.680-14T= (n.680-14T=) c.282-14T= c.703-14T= (n.703-14T=) c.766-14T= (n.766-14T=) n.2015T= c.769-14T= (n.769-14T=) c.697-14T= (n.697-14T=) c.661-14T= (n.661-14T=) c.658-14T= (n.658-14T=) c.88-14T= (n.88-14T=) c.613-14T= (n.613-14T=) c.121-14T= (n.121-14T=) | |
| 2 | g.27367836A>G | CA531448402 | EIF2B4 | c.706-14T>C (n.706-14T>C) c.680-14T>C (n.680-14T>C) c.282-14T>C c.703-14T>C (n.703-14T>C) c.766-14T>C (n.766-14T>C) n.2015T>C c.769-14T>C (n.769-14T>C) c.697-14T>C (n.697-14T>C) c.661-14T>C (n.661-14T>C) c.658-14T>C (n.658-14T>C) c.88-14T>C (n.88-14T>C) c.613-14T>C (n.613-14T>C) c.121-14T>C (n.121-14T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.27367838G>A | CA767380033 | EIF2B4 | c.706-16C>T (n.706-16C>T) c.680-16C>T (n.680-16C>T) c.282-16C>T c.703-16C>T (n.703-16C>T) c.766-16C>T (n.766-16C>T) n.2013C>T c.769-16C>T (n.769-16C>T) c.697-16C>T (n.697-16C>T) c.661-16C>T (n.661-16C>T) c.658-16C>T (n.658-16C>T) c.88-16C>T (n.88-16C>T) c.613-16C>T (n.613-16C>T) c.121-16C>T (n.121-16C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.27367838G= | CA1240245873 | EIF2B4 | c.706-16C= (n.706-16C=) c.680-16C= (n.680-16C=) c.282-16C= c.703-16C= (n.703-16C=) c.766-16C= (n.766-16C=) n.2013C= c.769-16C= (n.769-16C=) c.697-16C= (n.697-16C=) c.661-16C= (n.661-16C=) c.658-16C= (n.658-16C=) c.88-16C= (n.88-16C=) c.613-16C= (n.613-16C=) c.121-16C= (n.121-16C=) | |
| 2 | g.27367839G>A | CA1240245877 | EIF2B4 | c.706-17C>T (n.706-17C>T) c.680-17C>T (n.680-17C>T) c.282-17C>T c.703-17C>T (n.703-17C>T) c.766-17C>T (n.766-17C>T) n.2012C>T c.769-17C>T (n.769-17C>T) c.697-17C>T (n.697-17C>T) c.661-17C>T (n.661-17C>T) c.658-17C>T (n.658-17C>T) c.88-17C>T (n.88-17C>T) c.613-17C>T (n.613-17C>T) c.121-17C>T (n.121-17C>T) | dbSNP |
| 2 | g.27367839G>C | CA2658337673 | EIF2B4 | c.706-17C>G (n.706-17C>G) c.680-17C>G (n.680-17C>G) c.282-17C>G c.703-17C>G (n.703-17C>G) c.766-17C>G (n.766-17C>G) n.2012C>G c.769-17C>G (n.769-17C>G) c.697-17C>G (n.697-17C>G) c.661-17C>G (n.661-17C>G) c.658-17C>G (n.658-17C>G) c.88-17C>G (n.88-17C>G) c.613-17C>G (n.613-17C>G) c.121-17C>G (n.121-17C>G) | gnomAD v4 |
| 2 | g.27367839G= | CA1240245875 | EIF2B4 | c.706-17C= (n.706-17C=) c.680-17C= (n.680-17C=) c.282-17C= c.703-17C= (n.703-17C=) c.766-17C= (n.766-17C=) n.2012C= c.769-17C= (n.769-17C=) c.697-17C= (n.697-17C=) c.661-17C= (n.661-17C=) c.658-17C= (n.658-17C=) c.88-17C= (n.88-17C=) c.613-17C= (n.613-17C=) c.121-17C= (n.121-17C=) | |
| 2 | g.27367839_27367840insGTACACA | CA2697547929 | EIF2B4 | c.706-18_706-17insTGTGTAC (n.706-18_706-17insTGTGTAC) c.680-18_680-17insTGTGTAC (n.680-18_680-17insTGTGTAC) c.282-18_282-17insTGTGTAC c.703-18_703-17insTGTGTAC (n.703-18_703-17insTGTGTAC) c.766-18_766-17insTGTGTAC (n.766-18_766-17insTGTGTAC) n.2011_2012insTGTGTAC c.769-18_769-17insTGTGTAC (n.769-18_769-17insTGTGTAC) c.697-18_697-17insTGTGTAC (n.697-18_697-17insTGTGTAC) c.661-18_661-17insTGTGTAC (n.661-18_661-17insTGTGTAC) c.658-18_658-17insTGTGTAC (n.658-18_658-17insTGTGTAC) c.88-18_88-17insTGTGTAC (n.88-18_88-17insTGTGTAC) c.613-18_613-17insTGTGTAC (n.613-18_613-17insTGTGTAC) c.121-18_121-17insTGTGTAC (n.121-18_121-17insTGTGTAC) | ClinVar |
| 2 | g.27367840T>A | CA2697547930 | EIF2B4 | c.706-18A>T (n.706-18A>T) c.680-18A>T (n.680-18A>T) c.282-18A>T c.703-18A>T (n.703-18A>T) c.766-18A>T (n.766-18A>T) n.2011A>T c.769-18A>T (n.769-18A>T) c.697-18A>T (n.697-18A>T) c.661-18A>T (n.661-18A>T) c.658-18A>T (n.658-18A>T) c.88-18A>T (n.88-18A>T) c.613-18A>T (n.613-18A>T) c.121-18A>T (n.121-18A>T) | ClinVar |
| 2 | g.27367840T>C | CA2658337674 | EIF2B4 | c.706-18A>G (n.706-18A>G) c.680-18A>G (n.680-18A>G) c.282-18A>G c.703-18A>G (n.703-18A>G) c.766-18A>G (n.766-18A>G) n.2011A>G c.769-18A>G (n.769-18A>G) c.697-18A>G (n.697-18A>G) c.661-18A>G (n.661-18A>G) c.658-18A>G (n.658-18A>G) c.88-18A>G (n.88-18A>G) c.613-18A>G (n.613-18A>G) c.121-18A>G (n.121-18A>G) | gnomAD v4 |
| 2 | g.27367844C>A | CA2576981046 | EIF2B4 | c.706-22G>T (n.706-22G>T) c.680-22G>T (n.680-22G>T) c.282-22G>T c.703-22G>T (n.703-22G>T) c.766-22G>T (n.766-22G>T) n.2007G>T c.769-22G>T (n.769-22G>T) c.697-22G>T (n.697-22G>T) c.661-22G>T (n.661-22G>T) c.658-22G>T (n.658-22G>T) c.88-22G>T (n.88-22G>T) c.613-22G>T (n.613-22G>T) c.121-22G>T (n.121-22G>T) | |
| 2 | g.27367844C= | CA1240245878 | EIF2B4 | c.706-22G= (n.706-22G=) c.680-22G= (n.680-22G=) c.282-22G= c.703-22G= (n.703-22G=) c.766-22G= (n.766-22G=) n.2007G= c.769-22G= (n.769-22G=) c.697-22G= (n.697-22G=) c.661-22G= (n.661-22G=) c.658-22G= (n.658-22G=) c.88-22G= (n.88-22G=) c.613-22G= (n.613-22G=) c.121-22G= (n.121-22G=) | |
| 2 | g.27367844C>G | CA2698830318 | EIF2B4 | c.706-22G>C (n.706-22G>C) c.680-22G>C (n.680-22G>C) c.282-22G>C c.703-22G>C (n.703-22G>C) c.766-22G>C (n.766-22G>C) n.2007G>C c.769-22G>C (n.769-22G>C) c.697-22G>C (n.697-22G>C) c.661-22G>C (n.661-22G>C) c.658-22G>C (n.658-22G>C) c.88-22G>C (n.88-22G>C) c.613-22G>C (n.613-22G>C) c.121-22G>C (n.121-22G>C) | dbSNP |
| 2 | g.27367844C>T | CA1028683241 | EIF2B4 | c.706-22G>A (n.706-22G>A) c.680-22G>A (n.680-22G>A) c.282-22G>A c.703-22G>A (n.703-22G>A) c.766-22G>A (n.766-22G>A) n.2007G>A c.769-22G>A (n.769-22G>A) c.697-22G>A (n.697-22G>A) c.661-22G>A (n.661-22G>A) c.658-22G>A (n.658-22G>A) c.88-22G>A (n.88-22G>A) c.613-22G>A (n.613-22G>A) c.121-22G>A (n.121-22G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.27367845T>A | CA2658337675 | EIF2B4 | c.706-23A>T (n.706-23A>T) c.680-23A>T (n.680-23A>T) c.282-23A>T c.703-23A>T (n.703-23A>T) c.766-23A>T (n.766-23A>T) n.2006A>T c.769-23A>T (n.769-23A>T) c.697-23A>T (n.697-23A>T) c.661-23A>T (n.661-23A>T) c.658-23A>T (n.658-23A>T) c.88-23A>T (n.88-23A>T) c.613-23A>T (n.613-23A>T) c.121-23A>T (n.121-23A>T) | gnomAD v4 |
| 2 | g.27367846G>A | CA1028683243 | EIF2B4 | c.706-24C>T (n.706-24C>T) c.680-24C>T (n.680-24C>T) c.282-24C>T c.703-24C>T (n.703-24C>T) c.766-24C>T (n.766-24C>T) n.2005C>T c.769-24C>T (n.769-24C>T) c.697-24C>T (n.697-24C>T) c.661-24C>T (n.661-24C>T) c.658-24C>T (n.658-24C>T) c.88-24C>T (n.88-24C>T) c.613-24C>T (n.613-24C>T) c.121-24C>T (n.121-24C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.27367846G= | CA1240245881 | EIF2B4 | c.706-24C= (n.706-24C=) c.680-24C= (n.680-24C=) c.282-24C= c.703-24C= (n.703-24C=) c.766-24C= (n.766-24C=) n.2005C= c.769-24C= (n.769-24C=) c.697-24C= (n.697-24C=) c.661-24C= (n.661-24C=) c.658-24C= (n.658-24C=) c.88-24C= (n.88-24C=) c.613-24C= (n.613-24C=) c.121-24C= (n.121-24C=) | |
| 2 | g.27367846G>T | CA2658337676 | EIF2B4 | c.706-24C>A (n.706-24C>A) c.680-24C>A (n.680-24C>A) c.282-24C>A c.703-24C>A (n.703-24C>A) c.766-24C>A (n.766-24C>A) n.2005C>A c.769-24C>A (n.769-24C>A) c.697-24C>A (n.697-24C>A) c.661-24C>A (n.661-24C>A) c.658-24C>A (n.658-24C>A) c.88-24C>A (n.88-24C>A) c.613-24C>A (n.613-24C>A) c.121-24C>A (n.121-24C>A) | gnomAD v4 |
| 2 | g.27367849A>G | CA2576981048 | EIF2B4 | c.706-27T>C (n.706-27T>C) c.680-27T>C (n.680-27T>C) c.282-27T>C c.703-27T>C (n.703-27T>C) c.766-27T>C (n.766-27T>C) n.2002T>C c.769-27T>C (n.769-27T>C) c.697-27T>C (n.697-27T>C) c.661-27T>C (n.661-27T>C) c.658-27T>C (n.658-27T>C) c.88-27T>C (n.88-27T>C) c.613-27T>C (n.613-27T>C) c.121-27T>C (n.121-27T>C) | gnomAD v4 |
| 2 | g.27367851A= | CA1240245883 | EIF2B4 | c.706-29T= (n.706-29T=) c.680-29T= (n.680-29T=) c.282-29T= c.703-29T= (n.703-29T=) c.766-29T= (n.766-29T=) n.2000T= c.769-29T= (n.769-29T=) c.697-29T= (n.697-29T=) c.661-29T= (n.661-29T=) c.658-29T= (n.658-29T=) c.88-29T= (n.88-29T=) c.613-29T= (n.613-29T=) c.121-29T= (n.121-29T=) | |
| 2 | g.27367851A>C | CA531448403 | EIF2B4 | c.706-29T>G (n.706-29T>G) c.680-29T>G (n.680-29T>G) c.282-29T>G c.703-29T>G (n.703-29T>G) c.766-29T>G (n.766-29T>G) n.2000T>G c.769-29T>G (n.769-29T>G) c.697-29T>G (n.697-29T>G) c.661-29T>G (n.661-29T>G) c.658-29T>G (n.658-29T>G) c.88-29T>G (n.88-29T>G) c.613-29T>G (n.613-29T>G) c.121-29T>G (n.121-29T>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.27367851A>G | CA2576981049 | EIF2B4 | c.706-29T>C (n.706-29T>C) c.680-29T>C (n.680-29T>C) c.282-29T>C c.703-29T>C (n.703-29T>C) c.766-29T>C (n.766-29T>C) n.2000T>C c.769-29T>C (n.769-29T>C) c.697-29T>C (n.697-29T>C) c.661-29T>C (n.661-29T>C) c.658-29T>C (n.658-29T>C) c.88-29T>C (n.88-29T>C) c.613-29T>C (n.613-29T>C) c.121-29T>C (n.121-29T>C) | gnomAD v4 |
| 2 | g.27367853A>G | CA2699014556 | EIF2B4 | c.706-31T>C (n.706-31T>C) c.680-31T>C (n.680-31T>C) c.282-31T>C c.703-31T>C (n.703-31T>C) c.766-31T>C (n.766-31T>C) n.1998T>C c.769-31T>C (n.769-31T>C) c.697-31T>C (n.697-31T>C) c.661-31T>C (n.661-31T>C) c.658-31T>C (n.658-31T>C) c.88-31T>C (n.88-31T>C) c.613-31T>C (n.613-31T>C) c.121-31T>C (n.121-31T>C) | dbSNP |
| 2 | g.27367853_27367854delinsAC | CA1240245885 | EIF2B4 | c.706-32_706-31delinsGT (n.706-32_706-31delinsGT) c.680-32_680-31delinsGT (n.680-32_680-31delinsGT) c.282-32_282-31delinsGT c.703-32_703-31delinsGT (n.703-32_703-31delinsGT) c.766-32_766-31delinsGT (n.766-32_766-31delinsGT) n.1997_1998delinsGT c.769-32_769-31delinsGT (n.769-32_769-31delinsGT) c.697-32_697-31delinsGT (n.697-32_697-31delinsGT) c.661-32_661-31delinsGT (n.661-32_661-31delinsGT) c.658-32_658-31delinsGT (n.658-32_658-31delinsGT) c.88-32_88-31delinsGT (n.88-32_88-31delinsGT) c.613-32_613-31delinsGT (n.613-32_613-31delinsGT) c.121-32_121-31delinsGT (n.121-32_121-31delinsGT) | |
| 2 | g.27367854C>A | CA2658337677 | EIF2B4 | c.706-32G>T (n.706-32G>T) c.680-32G>T (n.680-32G>T) c.282-32G>T c.703-32G>T (n.703-32G>T) c.766-32G>T (n.766-32G>T) n.1997G>T c.769-32G>T (n.769-32G>T) c.697-32G>T (n.697-32G>T) c.661-32G>T (n.661-32G>T) c.658-32G>T (n.658-32G>T) c.88-32G>T (n.88-32G>T) c.613-32G>T (n.613-32G>T) c.121-32G>T (n.121-32G>T) | gnomAD v4 |
| 2 | g.27367854C= | CA1240245888 | EIF2B4 | c.706-32G= (n.706-32G=) c.680-32G= (n.680-32G=) c.282-32G= c.703-32G= (n.703-32G=) c.766-32G= (n.766-32G=) n.1997G= c.769-32G= (n.769-32G=) c.697-32G= (n.697-32G=) c.661-32G= (n.661-32G=) c.658-32G= (n.658-32G=) c.88-32G= (n.88-32G=) c.613-32G= (n.613-32G=) c.121-32G= (n.121-32G=) | |
| 2 | g.27367854C>T | CA1576809 | EIF2B4 | c.706-32G>A (n.706-32G>A) c.680-32G>A (n.680-32G>A) c.282-32G>A c.703-32G>A (n.703-32G>A) c.766-32G>A (n.766-32G>A) n.1997G>A c.769-32G>A (n.769-32G>A) c.697-32G>A (n.697-32G>A) c.661-32G>A (n.661-32G>A) c.658-32G>A (n.658-32G>A) c.88-32G>A (n.88-32G>A) c.613-32G>A (n.613-32G>A) c.121-32G>A (n.121-32G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.27367857del | CA1576808 | EIF2B4 | c.706-32del (n.706-32del) c.680-32del (n.680-32del) c.282-32del c.703-32del (n.703-32del) c.766-32del (n.766-32del) n.1997del c.769-32del (n.769-32del) c.697-32del (n.697-32del) c.661-32del (n.661-32del) c.658-32del (n.658-32del) c.88-32del (n.88-32del) c.613-32del (n.613-32del) c.121-32del (n.121-32del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.27367855C>A | CA2658337678 | EIF2B4 | c.706-33G>T (n.706-33G>T) c.680-33G>T (n.680-33G>T) c.282-33G>T c.703-33G>T (n.703-33G>T) c.766-33G>T (n.766-33G>T) n.1996G>T c.769-33G>T (n.769-33G>T) c.697-33G>T (n.697-33G>T) c.661-33G>T (n.661-33G>T) c.658-33G>T (n.658-33G>T) c.88-33G>T (n.88-33G>T) c.613-33G>T (n.613-33G>T) c.121-33G>T (n.121-33G>T) | gnomAD v4 |
| 2 | g.27367855C= | CA1240245891 | EIF2B4 | c.706-33G= (n.706-33G=) c.680-33G= (n.680-33G=) c.282-33G= c.703-33G= (n.703-33G=) c.766-33G= (n.766-33G=) n.1996G= c.769-33G= (n.769-33G=) c.697-33G= (n.697-33G=) c.661-33G= (n.661-33G=) c.658-33G= (n.658-33G=) c.88-33G= (n.88-33G=) c.613-33G= (n.613-33G=) c.121-33G= (n.121-33G=) | |
| 2 | g.27367855C>T | CA767380042 | EIF2B4 | c.706-33G>A (n.706-33G>A) c.680-33G>A (n.680-33G>A) c.282-33G>A c.703-33G>A (n.703-33G>A) c.766-33G>A (n.766-33G>A) n.1996G>A c.769-33G>A (n.769-33G>A) c.697-33G>A (n.697-33G>A) c.661-33G>A (n.661-33G>A) c.658-33G>A (n.658-33G>A) c.88-33G>A (n.88-33G>A) c.613-33G>A (n.613-33G>A) c.121-33G>A (n.121-33G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.27367856C>A | CA531448405 | EIF2B4 | c.706-34G>T (n.706-34G>T) c.680-34G>T (n.680-34G>T) c.282-34G>T c.703-34G>T (n.703-34G>T) c.766-34G>T (n.766-34G>T) n.1995G>T c.769-34G>T (n.769-34G>T) c.697-34G>T (n.697-34G>T) c.661-34G>T (n.661-34G>T) c.658-34G>T (n.658-34G>T) c.88-34G>T (n.88-34G>T) c.613-34G>T (n.613-34G>T) c.121-34G>T (n.121-34G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.27367856C= | CA1240245894 | EIF2B4 | c.706-34G= (n.706-34G=) c.680-34G= (n.680-34G=) c.282-34G= c.703-34G= (n.703-34G=) c.766-34G= (n.766-34G=) n.1995G= c.769-34G= (n.769-34G=) c.697-34G= (n.697-34G=) c.661-34G= (n.661-34G=) c.658-34G= (n.658-34G=) c.88-34G= (n.88-34G=) c.613-34G= (n.613-34G=) c.121-34G= (n.121-34G=) | |
| 2 | g.27367856C>T | CA2658337679 | EIF2B4 | c.706-34G>A (n.706-34G>A) c.680-34G>A (n.680-34G>A) c.282-34G>A c.703-34G>A (n.703-34G>A) c.766-34G>A (n.766-34G>A) n.1995G>A c.769-34G>A (n.769-34G>A) c.697-34G>A (n.697-34G>A) c.661-34G>A (n.661-34G>A) c.658-34G>A (n.658-34G>A) c.88-34G>A (n.88-34G>A) c.613-34G>A (n.613-34G>A) c.121-34G>A (n.121-34G>A) | gnomAD v4 |
| 2 | g.27367857C>A | CA2658337680 | EIF2B4 | c.706-35G>T (n.706-35G>T) c.680-35G>T (n.680-35G>T) c.282-35G>T c.703-35G>T (n.703-35G>T) c.766-35G>T (n.766-35G>T) n.1994G>T c.769-35G>T (n.769-35G>T) c.697-35G>T (n.697-35G>T) c.661-35G>T (n.661-35G>T) c.658-35G>T (n.658-35G>T) c.88-35G>T (n.88-35G>T) c.613-35G>T (n.613-35G>T) c.121-35G>T (n.121-35G>T) | gnomAD v4 |
| 2 | g.27367857C= | CA1240245896 | EIF2B4 | c.706-35G= (n.706-35G=) c.680-35G= (n.680-35G=) c.282-35G= c.703-35G= (n.703-35G=) c.766-35G= (n.766-35G=) n.1994G= c.769-35G= (n.769-35G=) c.697-35G= (n.697-35G=) c.661-35G= (n.661-35G=) c.658-35G= (n.658-35G=) c.88-35G= (n.88-35G=) c.613-35G= (n.613-35G=) c.121-35G= (n.121-35G=) | |
| 2 | g.27367857C>T | CA1576810 | EIF2B4 | c.706-35G>A (n.706-35G>A) c.680-35G>A (n.680-35G>A) c.282-35G>A c.703-35G>A (n.703-35G>A) c.766-35G>A (n.766-35G>A) n.1994G>A c.769-35G>A (n.769-35G>A) c.697-35G>A (n.697-35G>A) c.661-35G>A (n.661-35G>A) c.658-35G>A (n.658-35G>A) c.88-35G>A (n.88-35G>A) c.613-35G>A (n.613-35G>A) c.121-35G>A (n.121-35G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.27367858T>C | CA2658337681 | EIF2B4 | c.706-36A>G (n.706-36A>G) c.680-36A>G (n.680-36A>G) c.282-36A>G c.703-36A>G (n.703-36A>G) c.766-36A>G (n.766-36A>G) n.1993A>G c.769-36A>G (n.769-36A>G) c.697-36A>G (n.697-36A>G) c.661-36A>G (n.661-36A>G) c.658-36A>G (n.658-36A>G) c.88-36A>G (n.88-36A>G) c.613-36A>G (n.613-36A>G) c.121-36A>G (n.121-36A>G) | gnomAD v4 |
| 2 | g.27367858T>G | CA767380046 | EIF2B4 | c.706-36A>C (n.706-36A>C) c.680-36A>C (n.680-36A>C) c.282-36A>C c.703-36A>C (n.703-36A>C) c.766-36A>C (n.766-36A>C) n.1993A>C c.769-36A>C (n.769-36A>C) c.697-36A>C (n.697-36A>C) c.661-36A>C (n.661-36A>C) c.658-36A>C (n.658-36A>C) c.88-36A>C (n.88-36A>C) c.613-36A>C (n.613-36A>C) c.121-36A>C (n.121-36A>C) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.27367858T= | CA1240245899 | EIF2B4 | c.706-36A= (n.706-36A=) c.680-36A= (n.680-36A=) c.282-36A= c.703-36A= (n.703-36A=) c.766-36A= (n.766-36A=) n.1993A= c.769-36A= (n.769-36A=) c.697-36A= (n.697-36A=) c.661-36A= (n.661-36A=) c.658-36A= (n.658-36A=) c.88-36A= (n.88-36A=) c.613-36A= (n.613-36A=) c.121-36A= (n.121-36A=) | |
| 2 | g.27367859T>G | CA2749265066 | EIF2B4 | c.706-37A>C (n.706-37A>C) c.680-37A>C (n.680-37A>C) c.282-37A>C c.703-37A>C (n.703-37A>C) c.766-37A>C (n.766-37A>C) n.1992A>C c.769-37A>C (n.769-37A>C) c.697-37A>C (n.697-37A>C) c.661-37A>C (n.661-37A>C) c.658-37A>C (n.658-37A>C) c.88-37A>C (n.88-37A>C) c.613-37A>C (n.613-37A>C) c.121-37A>C (n.121-37A>C) | |
| 2 | g.27367860A>G | CA2658337682 | EIF2B4 | c.706-38T>C (n.706-38T>C) c.680-38T>C (n.680-38T>C) c.282-38T>C c.703-38T>C (n.703-38T>C) c.766-38T>C (n.766-38T>C) n.1991T>C c.769-38T>C (n.769-38T>C) c.697-38T>C (n.697-38T>C) c.661-38T>C (n.661-38T>C) c.658-38T>C (n.658-38T>C) c.88-38T>C (n.88-38T>C) c.613-38T>C (n.613-38T>C) c.121-38T>C (n.121-38T>C) | gnomAD v4 |
| 2 | g.27367864A>G | CA2658337683 | EIF2B4 | c.706-42T>C (n.706-42T>C) c.680-42T>C (n.680-42T>C) c.282-42T>C c.703-42T>C (n.703-42T>C) c.766-42T>C (n.766-42T>C) n.1987T>C c.769-42T>C (n.769-42T>C) c.697-42T>C (n.697-42T>C) c.661-42T>C (n.661-42T>C) c.658-42T>C (n.658-42T>C) c.88-42T>C (n.88-42T>C) c.613-42T>C (n.613-42T>C) c.121-42T>C (n.121-42T>C) | gnomAD v4 |
| 2 | g.27367866G>A | CA425411423 | EIF2B4 | c.706-44C>T (n.706-44C>T) c.680-44C>T (n.680-44C>T) c.282-44C>T c.703-44C>T (n.703-44C>T) c.766-44C>T (n.766-44C>T) n.1985C>T c.769-44C>T (n.769-44C>T) c.697-44C>T (n.697-44C>T) c.661-44C>T (n.661-44C>T) c.658-44C>T (n.658-44C>T) c.88-44C>T (n.88-44C>T) c.613-44C>T (n.613-44C>T) c.121-44C>T (n.121-44C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.27367866G>C | CA2658337684 | EIF2B4 | c.706-44C>G (n.706-44C>G) c.680-44C>G (n.680-44C>G) c.282-44C>G c.703-44C>G (n.703-44C>G) c.766-44C>G (n.766-44C>G) n.1985C>G c.769-44C>G (n.769-44C>G) c.697-44C>G (n.697-44C>G) c.661-44C>G (n.661-44C>G) c.658-44C>G (n.658-44C>G) c.88-44C>G (n.88-44C>G) c.613-44C>G (n.613-44C>G) c.121-44C>G (n.121-44C>G) | gnomAD v4 |
| 2 | g.27367866G= | CA1240245901 | EIF2B4 | c.706-44C= (n.706-44C=) c.680-44C= (n.680-44C=) c.282-44C= c.703-44C= (n.703-44C=) c.766-44C= (n.766-44C=) n.1985C= c.769-44C= (n.769-44C=) c.697-44C= (n.697-44C=) c.661-44C= (n.661-44C=) c.658-44C= (n.658-44C=) c.88-44C= (n.88-44C=) c.613-44C= (n.613-44C=) c.121-44C= (n.121-44C=) | |
| 2 | g.27367869C= | CA1240245906 | EIF2B4 | c.706-47G= (n.706-47G=) c.680-47G= (n.680-47G=) c.282-47G= c.703-47G= (n.703-47G=) c.766-47G= (n.766-47G=) n.1982G= c.769-47G= (n.769-47G=) c.697-47G= (n.697-47G=) c.661-47G= (n.661-47G=) c.658-47G= (n.658-47G=) c.88-47G= (n.88-47G=) c.613-47G= (n.613-47G=) c.121-47G= (n.121-47G=) | |
| 2 | g.27367869C>G | CA767380052 | EIF2B4 | c.706-47G>C (n.706-47G>C) c.680-47G>C (n.680-47G>C) c.282-47G>C c.703-47G>C (n.703-47G>C) c.766-47G>C (n.766-47G>C) n.1982G>C c.769-47G>C (n.769-47G>C) c.697-47G>C (n.697-47G>C) c.661-47G>C (n.661-47G>C) c.658-47G>C (n.658-47G>C) c.88-47G>C (n.88-47G>C) c.613-47G>C (n.613-47G>C) c.121-47G>C (n.121-47G>C) | dbSNP |
| 2 | g.27367869C>T | CA1576811 | EIF2B4 | c.706-47G>A (n.706-47G>A) c.680-47G>A (n.680-47G>A) c.282-47G>A c.703-47G>A (n.703-47G>A) c.766-47G>A (n.766-47G>A) n.1982G>A c.769-47G>A (n.769-47G>A) c.697-47G>A (n.697-47G>A) c.661-47G>A (n.661-47G>A) c.658-47G>A (n.658-47G>A) c.88-47G>A (n.88-47G>A) c.613-47G>A (n.613-47G>A) c.121-47G>A (n.121-47G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.27367870T>C | CA2658337685 | EIF2B4 | c.706-48A>G (n.706-48A>G) c.680-48A>G (n.680-48A>G) c.282-48A>G c.703-48A>G (n.703-48A>G) c.766-48A>G (n.766-48A>G) n.1981A>G c.769-48A>G (n.769-48A>G) c.697-48A>G (n.697-48A>G) c.661-48A>G (n.661-48A>G) c.658-48A>G (n.658-48A>G) c.88-48A>G (n.88-48A>G) c.613-48A>G (n.613-48A>G) c.121-48A>G (n.121-48A>G) | gnomAD v4 |
| 2 | g.27367872T>A | CA2699014605 | EIF2B4 | c.706-50A>T (n.706-50A>T) c.680-50A>T (n.680-50A>T) c.282-50A>T c.703-50A>T (n.703-50A>T) c.766-50A>T (n.766-50A>T) n.1979A>T c.769-50A>T (n.769-50A>T) c.697-50A>T (n.697-50A>T) c.661-50A>T (n.661-50A>T) c.658-50A>T (n.658-50A>T) c.88-50A>T (n.88-50A>T) c.613-50A>T (n.613-50A>T) c.121-50A>T (n.121-50A>T) | dbSNP |
| 2 | g.27367872T>C | CA2658337687 | EIF2B4 | c.706-50A>G (n.706-50A>G) c.680-50A>G (n.680-50A>G) c.282-50A>G c.703-50A>G (n.703-50A>G) c.766-50A>G (n.766-50A>G) n.1979A>G c.769-50A>G (n.769-50A>G) c.697-50A>G (n.697-50A>G) c.661-50A>G (n.661-50A>G) c.658-50A>G (n.658-50A>G) c.88-50A>G (n.88-50A>G) c.613-50A>G (n.613-50A>G) c.121-50A>G (n.121-50A>G) | gnomAD v4 |
| 2 | g.27367872_27367873del | CA2658337686 | EIF2B4 | c.706-51_706-50del (n.706-51_706-50del) c.680-51_680-50del (n.680-51_680-50del) c.282-51_282-50del c.703-51_703-50del (n.703-51_703-50del) c.766-51_766-50del (n.766-51_766-50del) n.1978_1979del c.769-51_769-50del (n.769-51_769-50del) c.697-51_697-50del (n.697-51_697-50del) c.661-51_661-50del (n.661-51_661-50del) c.658-51_658-50del (n.658-51_658-50del) c.88-51_88-50del (n.88-51_88-50del) c.613-51_613-50del (n.613-51_613-50del) c.121-51_121-50del (n.121-51_121-50del) | gnomAD v4 |
| 2 | g.27367873G>C | CA44512761 | EIF2B4 | c.706-51C>G (n.706-51C>G) c.680-51C>G (n.680-51C>G) c.282-51C>G c.703-51C>G (n.703-51C>G) c.766-51C>G (n.766-51C>G) n.1978C>G c.769-51C>G (n.769-51C>G) c.697-51C>G (n.697-51C>G) c.661-51C>G (n.661-51C>G) c.658-51C>G (n.658-51C>G) c.88-51C>G (n.88-51C>G) c.613-51C>G (n.613-51C>G) c.121-51C>G (n.121-51C>G) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.27367873G= | CA1240245907 | EIF2B4 | c.706-51C= (n.706-51C=) c.680-51C= (n.680-51C=) c.282-51C= c.703-51C= (n.703-51C=) c.766-51C= (n.766-51C=) n.1978C= c.769-51C= (n.769-51C=) c.697-51C= (n.697-51C=) c.661-51C= (n.661-51C=) c.658-51C= (n.658-51C=) c.88-51C= (n.88-51C=) c.613-51C= (n.613-51C=) c.121-51C= (n.121-51C=) | |
| 2 | g.27367873G>T | CA2576981050 | EIF2B4 | c.706-51C>A (n.706-51C>A) c.680-51C>A (n.680-51C>A) c.282-51C>A c.703-51C>A (n.703-51C>A) c.766-51C>A (n.766-51C>A) n.1978C>A c.769-51C>A (n.769-51C>A) c.697-51C>A (n.697-51C>A) c.661-51C>A (n.661-51C>A) c.658-51C>A (n.658-51C>A) c.88-51C>A (n.88-51C>A) c.613-51C>A (n.613-51C>A) c.121-51C>A (n.121-51C>A) | gnomAD v4 |
| 2 | g.27367875A>T | CA2576981051 | EIF2B4 | c.706-53T>A (n.706-53T>A) c.680-53T>A (n.680-53T>A) c.282-53T>A c.703-53T>A (n.703-53T>A) c.766-53T>A (n.766-53T>A) n.1976T>A c.769-53T>A (n.769-53T>A) c.697-53T>A (n.697-53T>A) c.661-53T>A (n.661-53T>A) c.658-53T>A (n.658-53T>A) c.88-53T>A (n.88-53T>A) c.613-53T>A (n.613-53T>A) c.121-53T>A (n.121-53T>A) | |
| 2 | g.27367876C= | CA1240245909 | EIF2B4 | c.706-54G= (n.706-54G=) c.680-54G= (n.680-54G=) c.282-54G= c.703-54G= (n.703-54G=) c.766-54G= (n.766-54G=) n.1975G= c.769-54G= (n.769-54G=) c.697-54G= (n.697-54G=) c.661-54G= (n.661-54G=) c.658-54G= (n.658-54G=) c.88-54G= (n.88-54G=) c.613-54G= (n.613-54G=) c.121-54G= (n.121-54G=) | |
| 2 | g.27367876C>G | CA2658337688 | EIF2B4 | c.706-54G>C (n.706-54G>C) c.680-54G>C (n.680-54G>C) c.282-54G>C c.703-54G>C (n.703-54G>C) c.766-54G>C (n.766-54G>C) n.1975G>C c.769-54G>C (n.769-54G>C) c.697-54G>C (n.697-54G>C) c.661-54G>C (n.661-54G>C) c.658-54G>C (n.658-54G>C) c.88-54G>C (n.88-54G>C) c.613-54G>C (n.613-54G>C) c.121-54G>C (n.121-54G>C) | gnomAD v4 |
| 2 | g.27367876C>T | CA44512765 | EIF2B4 | c.706-54G>A (n.706-54G>A) c.680-54G>A (n.680-54G>A) c.282-54G>A c.703-54G>A (n.703-54G>A) c.766-54G>A (n.766-54G>A) n.1975G>A c.769-54G>A (n.769-54G>A) c.697-54G>A (n.697-54G>A) c.661-54G>A (n.661-54G>A) c.658-54G>A (n.658-54G>A) c.88-54G>A (n.88-54G>A) c.613-54G>A (n.613-54G>A) c.121-54G>A (n.121-54G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.27367877G>A | CA44512783 | EIF2B4 | c.706-55C>T (n.706-55C>T) c.680-55C>T (n.680-55C>T) c.282-55C>T c.703-55C>T (n.703-55C>T) c.766-55C>T (n.766-55C>T) n.1974C>T c.769-55C>T (n.769-55C>T) c.697-55C>T (n.697-55C>T) c.661-55C>T (n.661-55C>T) c.658-55C>T (n.658-55C>T) c.88-55C>T (n.88-55C>T) c.613-55C>T (n.613-55C>T) c.121-55C>T (n.121-55C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.27367877G>C | CA44512786 | EIF2B4 | c.706-55C>G (n.706-55C>G) c.680-55C>G (n.680-55C>G) c.282-55C>G c.703-55C>G (n.703-55C>G) c.766-55C>G (n.766-55C>G) n.1974C>G c.769-55C>G (n.769-55C>G) c.697-55C>G (n.697-55C>G) c.661-55C>G (n.661-55C>G) c.658-55C>G (n.658-55C>G) c.88-55C>G (n.88-55C>G) c.613-55C>G (n.613-55C>G) c.121-55C>G (n.121-55C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.27367877G= | CA1240245915 | EIF2B4 | c.706-55C= (n.706-55C=) c.680-55C= (n.680-55C=) c.282-55C= c.703-55C= (n.703-55C=) c.766-55C= (n.766-55C=) n.1974C= c.769-55C= (n.769-55C=) c.697-55C= (n.697-55C=) c.661-55C= (n.661-55C=) c.658-55C= (n.658-55C=) c.88-55C= (n.88-55C=) c.613-55C= (n.613-55C=) c.121-55C= (n.121-55C=) | |
| 2 | g.27367877G>T | CA2658337690 | EIF2B4 | c.706-55C>A (n.706-55C>A) c.680-55C>A (n.680-55C>A) c.282-55C>A c.703-55C>A (n.703-55C>A) c.766-55C>A (n.766-55C>A) n.1974C>A c.769-55C>A (n.769-55C>A) c.697-55C>A (n.697-55C>A) c.661-55C>A (n.661-55C>A) c.658-55C>A (n.658-55C>A) c.88-55C>A (n.88-55C>A) c.613-55C>A (n.613-55C>A) c.121-55C>A (n.121-55C>A) | gnomAD v4 |
| 2 | g.27367881dup | CA44512772 | EIF2B4 | c.706-55dup (n.706-55dup) c.680-55dup (n.680-55dup) c.282-55dup c.703-55dup (n.703-55dup) c.766-55dup (n.766-55dup) n.1974dup c.769-55dup (n.769-55dup) c.697-55dup (n.697-55dup) c.661-55dup (n.661-55dup) c.658-55dup (n.658-55dup) c.88-55dup (n.88-55dup) c.613-55dup (n.613-55dup) c.121-55dup (n.121-55dup) | dbSNP |
| 2 | g.27367881del | CA2749265067 | EIF2B4 | c.706-55del (n.706-55del) c.680-55del (n.680-55del) c.282-55del c.703-55del (n.703-55del) c.766-55del (n.766-55del) n.1974del c.769-55del (n.769-55del) c.697-55del (n.697-55del) c.661-55del (n.661-55del) c.658-55del (n.658-55del) c.88-55del (n.88-55del) c.613-55del (n.613-55del) c.121-55del (n.121-55del) | |
| 2 | g.27367882_27367888del | CA2658337689 | EIF2B4 | c.706-61_706-55del (n.706-61_706-55del) c.680-61_680-55del (n.680-61_680-55del) c.282-61_282-55del c.703-61_703-55del (n.703-61_703-55del) c.766-61_766-55del (n.766-61_766-55del) n.1968_1974del c.769-61_769-55del (n.769-61_769-55del) c.697-61_697-55del (n.697-61_697-55del) c.661-61_661-55del (n.661-61_661-55del) c.658-61_658-55del (n.658-61_658-55del) c.88-61_88-55del (n.88-61_88-55del) c.613-61_613-55del (n.613-61_613-55del) c.121-61_121-55del (n.121-61_121-55del) | gnomAD v4 |
| 2 | g.27367878G>A | CA2658337691 | EIF2B4 | c.706-56C>T (n.706-56C>T) c.680-56C>T (n.680-56C>T) c.282-56C>T c.703-56C>T (n.703-56C>T) c.766-56C>T (n.766-56C>T) n.1973C>T c.769-56C>T (n.769-56C>T) c.697-56C>T (n.697-56C>T) c.661-56C>T (n.661-56C>T) c.658-56C>T (n.658-56C>T) c.88-56C>T (n.88-56C>T) c.613-56C>T (n.613-56C>T) c.121-56C>T (n.121-56C>T) | gnomAD v4 |
| 2 | g.27367881G>A | CA44512795 | EIF2B4 | c.706-59C>T (n.706-59C>T) c.680-59C>T (n.680-59C>T) c.282-59C>T c.703-59C>T (n.703-59C>T) c.766-59C>T (n.766-59C>T) n.1970C>T c.769-59C>T (n.769-59C>T) c.697-59C>T (n.697-59C>T) c.661-59C>T (n.661-59C>T) c.658-59C>T (n.658-59C>T) c.88-59C>T (n.88-59C>T) c.613-59C>T (n.613-59C>T) c.121-59C>T (n.121-59C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.27367881G= | CA1240245917 | EIF2B4 | c.706-59C= (n.706-59C=) c.680-59C= (n.680-59C=) c.282-59C= c.703-59C= (n.703-59C=) c.766-59C= (n.766-59C=) n.1970C= c.769-59C= (n.769-59C=) c.697-59C= (n.697-59C=) c.661-59C= (n.661-59C=) c.658-59C= (n.658-59C=) c.88-59C= (n.88-59C=) c.613-59C= (n.613-59C=) c.121-59C= (n.121-59C=) | |
| 2 | g.27367881G>T | CA2658337692 | EIF2B4 | c.706-59C>A (n.706-59C>A) c.680-59C>A (n.680-59C>A) c.282-59C>A c.703-59C>A (n.703-59C>A) c.766-59C>A (n.766-59C>A) n.1970C>A c.769-59C>A (n.769-59C>A) c.697-59C>A (n.697-59C>A) c.661-59C>A (n.661-59C>A) c.658-59C>A (n.658-59C>A) c.88-59C>A (n.88-59C>A) c.613-59C>A (n.613-59C>A) c.121-59C>A (n.121-59C>A) | gnomAD v4 |
| 2 | g.27367882C>T | CA2658337693 | EIF2B4 | c.706-60G>A (n.706-60G>A) c.680-60G>A (n.680-60G>A) c.282-60G>A c.703-60G>A (n.703-60G>A) c.766-60G>A (n.766-60G>A) n.1969G>A c.769-60G>A (n.769-60G>A) c.697-60G>A (n.697-60G>A) c.661-60G>A (n.661-60G>A) c.658-60G>A (n.658-60G>A) c.88-60G>A (n.88-60G>A) c.613-60G>A (n.613-60G>A) c.121-60G>A (n.121-60G>A) | gnomAD v4 |