Chr Mutation (hg38) CAid Gene Transcript Linkouts
14g.75004787_75004790delinsAATGCA2147299017EIF2B2c.484_487delinsAATG (p.Asn162=)
c.457_460delinsAATG (p.Asn153=)
n.779_782delinsAATG
n.542_545delinsAATG
14g.75004789_75004791delCA2147299018EIF2B2c.486_488del (p.Asn162_Glu163delinsLys)
c.459_461del (p.Asn153_Glu154delinsLys)
n.781_783del
n.544_546del
 dbSNP
14g.75004789T>ACA390425822EIF2B2c.486T>A (p.Asn162Lys)
c.459T>A (p.Asn153Lys)
n.781T>A
n.544T>A
14g.75004789T>CCA487177025EIF2B2c.486T>C (p.Asn162=)
c.459T>C (p.Asn153=)
n.781T>C
n.544T>C
14g.75004789T>GCA390425824EIF2B2c.486T>G (p.Asn162Lys)
c.459T>G (p.Asn153Lys)
n.781T>G
n.544T>G
 gnomAD v4
14g.75004790G>ACA390425829EIF2B2c.487G>A (p.Glu163Lys)
c.460G>A (p.Glu154Lys)
n.782G>A
n.545G>A
14g.75004790G>CCA390425828EIF2B2c.487G>C (p.Glu163Gln)
c.460G>C (p.Glu154Gln)
n.782G>C
n.545G>C
14g.75004790G>TCA390425826EIF2B2c.487G>T (p.Glu163Ter)
c.460G>T (p.Glu154Ter)
n.782G>T
n.545G>T
14g.75004791A=CA2147299020EIF2B2c.488A= (p.Glu163=)
c.461A= (p.Glu154=)
n.783A=
n.546A=
14g.75004791A>CCA390425832EIF2B2c.488A>C (p.Glu163Ala)
c.461A>C (p.Glu154Ala)
n.783A>C
n.546A>C
14g.75004791A>GCA390425834EIF2B2c.488A>G (p.Glu163Gly)
c.461A>G (p.Glu154Gly)
n.783A>G
n.546A>G
 dbSNP
14g.75004791A>TCA390425835EIF2B2c.488A>T (p.Glu163Val)
c.461A>T (p.Glu154Val)
n.783A>T
n.546A>T
14g.75004791_75004810delCA2739278859EIF2B2c.488_507del (p.Glu163ValfsTer?)
c.461_480del (p.Glu154ValfsTer?)
n.783_802del
n.546_565del
 ClinVar
14g.75004792G>ACA487177026EIF2B2c.489G>A (p.Glu163=)
c.462G>A (p.Glu154=)
n.784G>A
n.547G>A
14g.75004792G>CCA390425837EIF2B2c.489G>C (p.Glu163Asp)
c.462G>C (p.Glu154Asp)
n.784G>C
n.547G>C
14g.75004792G>TCA390425839EIF2B2c.489G>T (p.Glu163Asp)
c.462G>T (p.Glu154Asp)
n.784G>T
n.547G>T
14g.75004793G>ACA390425845EIF2B2c.490G>A (p.Val164Met)
c.463G>A (p.Val155Met)
n.785G>A
n.548G>A
 dbSNP
14g.75004793G>CCA390425843EIF2B2c.490G>C (p.Val164Leu)
c.463G>C (p.Val155Leu)
n.785G>C
n.548G>C
 gnomAD v4
14g.75004793G=CA2147299021EIF2B2c.490G= (p.Val164=)
c.463G= (p.Val155=)
n.785G=
n.548G=
14g.75004793G>TCA390425841EIF2B2c.490G>T (p.Val164Leu)
c.463G>T (p.Val155Leu)
n.785G>T
n.548G>T
14g.75004794T>ACA390425846EIF2B2c.491T>A (p.Val164Glu)
c.464T>A (p.Val155Glu)
n.786T>A
n.549T>A
14g.75004794T>CCA7274963EIF2B2c.491T>C (p.Val164Ala)
c.464T>C (p.Val155Ala)
n.786T>C
n.549T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.75004794T>GCA263654440EIF2B2c.491T>G (p.Val164Gly)
c.464T>G (p.Val155Gly)
n.786T>G
n.549T>G
 dbSNP
14g.75004794T=CA2147299022EIF2B2c.491T= (p.Val164=)
c.464T= (p.Val155=)
n.786T=
n.549T=
14g.75004795G>ACA487177027EIF2B2c.492G>A (p.Val164=)
c.465G>A (p.Val155=)
n.787G>A
n.550G>A
14g.75004795G>CCA487177028EIF2B2c.492G>C (p.Val164=)
c.465G>C (p.Val155=)
n.787G>C
n.550G>C
14g.75004795G>TCA487177029EIF2B2c.492G>T (p.Val164=)
c.465G>T (p.Val155=)
n.787G>T
n.550G>T
14g.75004795_75004796dupCA2147299023EIF2B2c.492_493dup (p.Ile165ArgfsTer3)
c.465_466dup (p.Ile156ArgfsTer3)
n.787_788dup
n.550_551dup
 dbSNP
14g.75004796A=CA2147299024EIF2B2c.493A= (p.Ile165=)
c.466A= (p.Ile156=)
n.788A=
n.551A=
14g.75004796A>CCA390425850EIF2B2c.493A>C (p.Ile165Leu)
c.466A>C (p.Ile156Leu)
n.788A>C
n.551A>C
14g.75004796A>GCA390425852EIF2B2c.493A>G (p.Ile165Val)
c.466A>G (p.Ile156Val)
n.788A>G
n.551A>G
14g.75004796A>TCA390425854EIF2B2c.493A>T (p.Ile165Phe)
c.466A>T (p.Ile156Phe)
n.788A>T
n.551A>T
14g.75004797T>ACA390425861EIF2B2c.494T>A (p.Ile165Asn)
c.467T>A (p.Ile156Asn)
n.789T>A
n.552T>A
14g.75004797T>CCA390425860EIF2B2c.494T>C (p.Ile165Thr)
c.467T>C (p.Ile156Thr)
n.789T>C
n.552T>C
14g.75004797T>GCA390425857EIF2B2c.494T>G (p.Ile165Ser)
c.467T>G (p.Ile156Ser)
n.789T>G
n.552T>G
14g.75004797dupCA7274964EIF2B2c.494dup (p.Met166HisfsTer?)
c.467dup (p.Met157HisfsTer?)
n.789dup
n.552dup
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.75004798C>ACA487177030EIF2B2c.495C>A (p.Ile165=)
c.468C>A (p.Ile156=)
n.790C>A
n.553C>A
 COSMIC
14g.75004798C>GCA390425862EIF2B2c.495C>G (p.Ile165Met)
c.468C>G (p.Ile156Met)
n.790C>G
n.553C>G
14g.75004798C>TCA487177031EIF2B2c.495C>T (p.Ile165=)
c.468C>T (p.Ile156=)
n.790C>T
n.553C>T
 COSMIC
14g.75004799A=CA2147299025EIF2B2c.496A= (p.Met166=)
c.469A= (p.Met157=)
n.791A=
n.554A=
14g.75004799A>CCA390425864EIF2B2c.496A>C (p.Met166Leu)
c.469A>C (p.Met157Leu)
n.791A>C
n.554A>C
14g.75004799A>GCA390425868EIF2B2c.496A>G (p.Met166Val)
c.469A>G (p.Met157Val)
n.791A>G
n.554A>G
 dbSNP gnomAD v2 gnomAD v4
14g.75004799A>TCA390425869EIF2B2c.496A>T (p.Met166Leu)
c.469A>T (p.Met157Leu)
n.791A>T
n.554A>T
14g.75004800T>ACA390425870EIF2B2c.497T>A (p.Met166Lys)
c.470T>A (p.Met157Lys)
n.792T>A
n.555T>A
14g.75004800T>CCA390425871EIF2B2c.497T>C (p.Met166Thr)
c.470T>C (p.Met157Thr)
n.792T>C
n.555T>C
14g.75004800T>GCA390425873EIF2B2c.497T>G (p.Met166Arg)
c.470T>G (p.Met157Arg)
n.792T>G
n.555T>G
14g.75004801G>ACA263654445EIF2B2c.498G>A (p.Met166Ile)
c.471G>A (p.Met157Ile)
n.793G>A
n.556G>A
 ClinVar dbSNP gnomAD v4
14g.75004801G>CCA390425875EIF2B2c.498G>C (p.Met166Ile)
c.471G>C (p.Met157Ile)
n.793G>C
n.556G>C
14g.75004801G=CA2147299026EIF2B2c.498G= (p.Met166=)
c.471G= (p.Met157=)
n.793G=
n.556G=
14g.75004801G>TCA390425877EIF2B2c.498G>T (p.Met166Ile)
c.471G>T (p.Met157Ile)
n.793G>T
n.556G>T
 gnomAD v4
14g.75004802A>CCA390425882EIF2B2c.499A>C (p.Thr167Pro)
c.472A>C (p.Thr158Pro)
n.794A>C
n.557A>C
14g.75004802A>GCA390425880EIF2B2c.499A>G (p.Thr167Ala)
c.472A>G (p.Thr158Ala)
n.794A>G
n.557A>G
14g.75004802A>TCA390425879EIF2B2c.499A>T (p.Thr167Ser)
c.472A>T (p.Thr158Ser)
n.794A>T
n.557A>T
14g.75004803C>ACA390425884EIF2B2c.500C>A (p.Thr167Asn)
c.473C>A (p.Thr158Asn)
n.795C>A
n.558C>A
14g.75004803C=CA2147299027EIF2B2c.500C= (p.Thr167=)
c.473C= (p.Thr158=)
n.795C=
n.558C=
14g.75004803C>GCA390425888EIF2B2c.500C>G (p.Thr167Ser)
c.473C>G (p.Thr158Ser)
n.795C>G
n.558C>G
 gnomAD v4
14g.75004803C>TCA390425886EIF2B2c.500C>T (p.Thr167Ile)
c.473C>T (p.Thr158Ile)
n.795C>T
n.558C>T
 dbSNP gnomAD v2 gnomAD v4
14g.75004804C>ACA487177032EIF2B2c.501C>A (p.Thr167=)
c.474C>A (p.Thr158=)
n.796C>A
n.559C>A
14g.75004804C>GCA487177034EIF2B2c.501C>G (p.Thr167=)
c.474C>G (p.Thr158=)
n.796C>G
n.559C>G
14g.75004804C>TCA487177033EIF2B2c.501C>T (p.Thr167=)
c.474C>T (p.Thr158=)
n.796C>T
n.559C>T
14g.75004805A=CA2147299028EIF2B2c.502A= (p.Ile168=)
c.475A= (p.Ile159=)
n.797A=
n.560A=
14g.75004805A>CCA390425890EIF2B2c.502A>C (p.Ile168Leu)
c.475A>C (p.Ile159Leu)
n.797A>C
n.560A>C
14g.75004805A>GCA263654449EIF2B2c.502A>G (p.Ile168Val)
c.475A>G (p.Ile159Val)
n.797A>G
n.560A>G
 dbSNP
14g.75004805A>TCA390425892EIF2B2c.502A>T (p.Ile168Phe)
c.475A>T (p.Ile159Phe)
n.797A>T
n.560A>T
14g.75004806T>ACA390425894EIF2B2c.503T>A (p.Ile168Asn)
c.476T>A (p.Ile159Asn)
n.798T>A
n.561T>A
14g.75004806T>CCA390425896EIF2B2c.503T>C (p.Ile168Thr)
c.476T>C (p.Ile159Thr)
n.798T>C
n.561T>C
 dbSNP gnomAD v4
14g.75004806T>GCA390425897EIF2B2c.503T>G (p.Ile168Ser)
c.476T>G (p.Ile159Ser)
n.798T>G
n.561T>G
14g.75004806T=CA2147299029EIF2B2c.503T= (p.Ile168=)
c.476T= (p.Ile159=)
n.798T=
n.561T=
14g.75004807T>ACA487177035EIF2B2c.504T>A (p.Ile168=)
c.477T>A (p.Ile159=)
n.799T>A
n.562T>A
14g.75004807T>CCA487177036EIF2B2c.504T>C (p.Ile168=)
c.477T>C (p.Ile159=)
n.799T>C
n.562T>C
14g.75004807T>GCA390425899EIF2B2c.504T>G (p.Ile168Met)
c.477T>G (p.Ile159Met)
n.799T>G
n.562T>G
14g.75004808G>ACA390425900EIF2B2c.505G>A (p.Gly169Ser)
c.478G>A (p.Gly160Ser)
n.800G>A
n.563G>A
14g.75004808G>CCA390425902EIF2B2c.505G>C (p.Gly169Arg)
c.478G>C (p.Gly160Arg)
n.800G>C
n.563G>C
14g.75004808G>TCA390425904EIF2B2c.505G>T (p.Gly169Cys)
c.478G>T (p.Gly160Cys)
n.800G>T
n.563G>T
14g.75004809G>ACA390425906EIF2B2c.506G>A (p.Gly169Asp)
c.479G>A (p.Gly160Asp)
n.801G>A
n.564G>A
14g.75004809G>CCA390425908EIF2B2c.506G>C (p.Gly169Ala)
c.479G>C (p.Gly160Ala)
n.801G>C
n.564G>C
 gnomAD v4
14g.75004809G>TCA390425910EIF2B2c.506G>T (p.Gly169Val)
c.479G>T (p.Gly160Val)
n.801G>T
n.564G>T
14g.75004810C>ACA487177037EIF2B2c.507C>A (p.Gly169=)
c.480C>A (p.Gly160=)
n.802C>A
n.565C>A
14g.75004810C>GCA487177038EIF2B2c.507C>G (p.Gly169=)
c.480C>G (p.Gly160=)
n.802C>G
n.565C>G
14g.75004810C>TCA487177039EIF2B2c.507C>T (p.Gly169=)
c.480C>T (p.Gly160=)
n.802C>T
n.565C>T
 COSMIC
14g.75004811T>ACA390425912EIF2B2c.508T>A (p.Phe170Ile)
c.481T>A (p.Phe161Ile)
n.803T>A
n.566T>A
 gnomAD v4
14g.75004811T>CCA390425917EIF2B2c.508T>C (p.Phe170Leu)
c.481T>C (p.Phe161Leu)
n.803T>C
n.566T>C
 dbSNP
14g.75004811T>GCA390425914EIF2B2c.508T>G (p.Phe170Val)
c.481T>G (p.Phe161Val)
n.803T>G
n.566T>G
14g.75004811T=CA2147299030EIF2B2c.508T= (p.Phe170=)
c.481T= (p.Phe161=)
n.803T=
n.566T=
14g.75004812T>ACA390425919EIF2B2c.509T>A (p.Phe170Tyr)
c.482T>A (p.Phe161Tyr)
n.804T>A
n.567T>A
14g.75004812T>CCA390425921EIF2B2c.509T>C (p.Phe170Ser)
c.482T>C (p.Phe161Ser)
n.804T>C
n.567T>C
14g.75004812T>GCA390425922EIF2B2c.509T>G (p.Phe170Cys)
c.482T>G (p.Phe161Cys)
n.804T>G
n.567T>G
14g.75004813C>ACA390425923EIF2B2c.510C>A (p.Phe170Leu)
c.483C>A (p.Phe161Leu)
n.805C>A
n.568C>A
 dbSNP gnomAD v2 gnomAD v4
14g.75004813C=CA2147299031EIF2B2c.510C= (p.Phe170=)
c.483C= (p.Phe161=)
n.805C=
n.568C=
14g.75004813C>GCA390425925EIF2B2c.510C>G (p.Phe170Leu)
c.483C>G (p.Phe161Leu)
n.805C>G
n.568C>G
14g.75004813C>TCA487177040EIF2B2c.510C>T (p.Phe170=)
c.483C>T (p.Phe161=)
n.805C>T
n.568C>T
 dbSNP gnomAD v4
14g.75004814T>ACA390425927EIF2B2c.511T>A (p.Ser171Thr)
c.484T>A (p.Ser162Thr)
n.806T>A
n.569T>A
14g.75004814T>CCA390425928EIF2B2c.511T>C (p.Ser171Pro)
c.484T>C (p.Ser162Pro)
n.806T>C
n.569T>C
14g.75004814T>GCA390425930EIF2B2c.511T>G (p.Ser171Ala)
c.484T>G (p.Ser162Ala)
n.806T>G
n.569T>G
14g.75004815C>ACA390425933EIF2B2c.512C>A (p.Ser171Tyr)
c.485C>A (p.Ser162Tyr)
n.807C>A
n.570C>A
 dbSNP gnomAD v2 gnomAD v4
14g.75004815C=CA2147299032EIF2B2c.512C= (p.Ser171=)
c.485C= (p.Ser162=)
n.807C=
n.570C=
14g.75004815C>GCA390425935EIF2B2c.512C>G (p.Ser171Cys)
c.485C>G (p.Ser162Cys)
n.807C>G
n.570C>G
14g.75004815C>TCA116772EIF2B2c.512C>T (p.Ser171Phe)
c.485C>T (p.Ser162Phe)
n.807C>T
n.570C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.75004816C>ACA487177041EIF2B2c.513C>A (p.Ser171=)
c.486C>A (p.Ser162=)
n.808C>A
n.571C>A
14g.75004816C>GCA487177042EIF2B2c.513C>G (p.Ser171=)
c.486C>G (p.Ser162=)
n.808C>G
n.571C>G
14g.75004816C>TCA487177043EIF2B2c.513C>T (p.Ser171=)
c.486C>T (p.Ser162=)
n.808C>T
n.571C>T
14g.75004817C>ACA487177044EIF2B2c.514C>A (p.Arg172=)
c.487C>A (p.Arg163=)
n.809C>A
n.572C>A
 gnomAD v4
14g.75004817C=CA2147299033EIF2B2c.514C= (p.Arg172=)
c.487C= (p.Arg163=)
n.809C=
n.572C=
14g.75004817C>GCA390425938EIF2B2c.514C>G (p.Arg172Gly)
c.487C>G (p.Arg163Gly)
n.809C>G
n.572C>G
14g.75004817C>TCA7274965EIF2B2c.514C>T (p.Arg172Ter)
c.487C>T (p.Arg163Ter)
n.809C>T
n.572C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
14g.75004818G>ACA263654480EIF2B2c.515G>A (p.Arg172Gln)
c.488G>A (p.Arg163Gln)
n.810G>A
n.573G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
14g.75004818G>CCA390425941EIF2B2c.515G>C (p.Arg172Pro)
c.488G>C (p.Arg163Pro)
n.810G>C
n.573G>C
14g.75004818G=CA2147299034EIF2B2c.515G= (p.Arg172=)
c.488G= (p.Arg163=)
n.810G=
n.573G=
14g.75004818G>TCA390425943EIF2B2c.515G>T (p.Arg172Leu)
c.488G>T (p.Arg163Leu)
n.810G>T
n.573G>T
14g.75004819A>CCA487177045EIF2B2c.516A>C (p.Arg172=)
c.489A>C (p.Arg163=)
n.811A>C
n.574A>C
14g.75004819A>GCA487177046EIF2B2c.516A>G (p.Arg172=)
c.489A>G (p.Arg163=)
n.811A>G
n.574A>G
14g.75004819A>TCA487177047EIF2B2c.516A>T (p.Arg172=)
c.489A>T (p.Arg163=)
n.811A>T
n.574A>T
14g.75004820A>CCA390425946EIF2B2c.517A>C (p.Thr173Pro)
c.490A>C (p.Thr164Pro)
n.812A>C
n.575A>C
14g.75004820A>GCA390425947EIF2B2c.517A>G (p.Thr173Ala)
c.490A>G (p.Thr164Ala)
n.812A>G
n.575A>G
 gnomAD v4
14g.75004820A>TCA390425948EIF2B2c.517A>T (p.Thr173Ser)
c.490A>T (p.Thr164Ser)
n.812A>T
n.575A>T
14g.75004821C>ACA390425955EIF2B2c.518C>A (p.Thr173Lys)
c.491C>A (p.Thr164Lys)
n.813C>A
n.576C>A
14g.75004821C>GCA390425953EIF2B2c.518C>G (p.Thr173Arg)
c.491C>G (p.Thr164Arg)
n.813C>G
n.576C>G
14g.75004821C>TCA390425952EIF2B2c.518C>T (p.Thr173Ile)
c.491C>T (p.Thr164Ile)
n.813C>T
n.576C>T
 gnomAD v4
14g.75004822A>CCA487177048EIF2B2c.519A>C (p.Thr173=)
c.492A>C (p.Thr164=)
n.814A>C
n.577A>C
14g.75004822A>GCA487177049EIF2B2c.519A>G (p.Thr173=)
c.492A>G (p.Thr164=)
n.814A>G
n.577A>G
14g.75004822A>TCA487177050EIF2B2c.519A>T (p.Thr173=)
c.492A>T (p.Thr164=)
n.814A>T
n.577A>T
14g.75004823G>ACA390425957EIF2B2c.520G>A (p.Val174Ile)
c.493G>A (p.Val165Ile)
n.815G>A
n.578G>A
14g.75004823G>CCA390425958EIF2B2c.520G>C (p.Val174Leu)
c.493G>C (p.Val165Leu)
n.815G>C
n.578G>C
14g.75004823G>TCA390425959EIF2B2c.520G>T (p.Val174Leu)
c.493G>T (p.Val165Leu)
n.815G>T
n.578G>T
14g.75004824T>ACA390425961EIF2B2c.521T>A (p.Val174Glu)
c.494T>A (p.Val165Glu)
n.816T>A
n.579T>A
14g.75004824T>CCA7274966EIF2B2c.521T>C (p.Val174Ala)
c.494T>C (p.Val165Ala)
n.816T>C
n.579T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.75004824T>GCA390425964EIF2B2c.521T>G (p.Val174Gly)
c.494T>G (p.Val165Gly)
n.816T>G
n.579T>G
14g.75004824T=CA2147299035EIF2B2c.521T= (p.Val174=)
c.494T= (p.Val165=)
n.816T=
n.579T=
14g.75004825A>CCA487177051EIF2B2c.522A>C (p.Val174=)
c.495A>C (p.Val165=)
n.817A>C
n.580A>C
14g.75004825A>GCA487177052EIF2B2c.522A>G (p.Val174=)
c.495A>G (p.Val165=)
n.817A>G
n.580A>G
 gnomAD v4
14g.75004825A>TCA487177053EIF2B2c.522A>T (p.Val174=)
c.495A>T (p.Val165=)
n.817A>T
n.580A>T
14g.75004826G>ACA390425967EIF2B2c.523G>A (p.Glu175Lys)
c.496G>A (p.Glu166Lys)
n.818G>A
n.581G>A
14g.75004826G>CCA390425971EIF2B2c.523G>C (p.Glu175Gln)
c.496G>C (p.Glu166Gln)
n.818G>C
n.581G>C
14g.75004826G>TCA390425968EIF2B2c.523G>T (p.Glu175Ter)
c.496G>T (p.Glu166Ter)
n.818G>T
n.581G>T
14g.75004827A>CCA390425973EIF2B2c.524A>C (p.Glu175Ala)
c.497A>C (p.Glu166Ala)
n.819A>C
n.582A>C
14g.75004827A>GCA390425975EIF2B2c.524A>G (p.Glu175Gly)
c.497A>G (p.Glu166Gly)
n.819A>G
n.582A>G
14g.75004827A>TCA390425977EIF2B2c.524A>T (p.Glu175Val)
c.497A>T (p.Glu166Val)
n.819A>T
n.582A>T
14g.75004828G>ACA487177054EIF2B2c.525G>A (p.Glu175=)
c.498G>A (p.Glu166=)
n.820G>A
n.583G>A
14g.75004828G>CCA390425979EIF2B2c.525G>C (p.Glu175Asp)
c.498G>C (p.Glu166Asp)
n.820G>C
n.583G>C
14g.75004828G>TCA390425980EIF2B2c.525G>T (p.Glu175Asp)
c.498G>T (p.Glu166Asp)
n.820G>T
n.583G>T
14g.75004829G>ACA390425983EIF2B2c.526G>A (p.Ala176Thr)
c.499G>A (p.Ala167Thr)
n.821G>A
n.584G>A
14g.75004829G>CCA390425985EIF2B2c.526G>C (p.Ala176Pro)
c.499G>C (p.Ala167Pro)
n.821G>C
n.584G>C
14g.75004829G=CA2147299036EIF2B2c.526G= (p.Ala176=)
c.499G= (p.Ala167=)
n.821G=
n.584G=
14g.75004829G>TCA390425987EIF2B2c.526G>T (p.Ala176Ser)
c.499G>T (p.Ala167Ser)
n.821G>T
n.584G>T
 dbSNP gnomAD v2 gnomAD v4
14g.75004830C>ACA390425989EIF2B2c.527C>A (p.Ala176Asp)
c.500C>A (p.Ala167Asp)
n.822C>A
n.585C>A
 gnomAD v4
14g.75004830C=CA2147299037EIF2B2c.527C= (p.Ala176=)
c.500C= (p.Ala167=)
n.822C=
n.585C=
14g.75004830C>GCA390425991EIF2B2c.527C>G (p.Ala176Gly)
c.500C>G (p.Ala167Gly)
n.822C>G
n.585C>G
14g.75004830C>TCA390425993EIF2B2c.527C>T (p.Ala176Val)
c.500C>T (p.Ala167Val)
n.822C>T
n.585C>T
 dbSNP gnomAD v2 gnomAD v4
14g.75004831C>ACA487177055EIF2B2c.528C>A (p.Ala176=)
c.501C>A (p.Ala167=)
n.823C>A
n.586C>A
14g.75004831C=CA2147299038EIF2B2c.528C= (p.Ala176=)
c.501C= (p.Ala167=)
n.823C=
n.586C=
14g.75004831C>GCA487177056EIF2B2c.528C>G (p.Ala176=)
c.501C>G (p.Ala167=)
n.823C>G
n.586C>G
14g.75004831C>TCA7274967EIF2B2c.528C>T (p.Ala176=)
c.501C>T (p.Ala167=)
n.823C>T
n.586C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
14g.75004831_75004846delinsCTTCCTCAAAGAGGCTCA2147299039EIF2B2c.528_543delinsCTTCCTCAAAGAGGCT (p.Ala176=)
c.501_516delinsCTTCCTCAAAGAGGCT (p.Ala167=)
n.823_838delinsCTTCCTCAAAGAGGCT
n.586_601delinsCTTCCTCAAAGAGGCT
14g.75004832T>ACA390425996EIF2B2c.529T>A (p.Phe177Ile)
c.502T>A (p.Phe168Ile)
n.824T>A
n.587T>A
14g.75004832T>CCA390425999EIF2B2c.529T>C (p.Phe177Leu)
c.502T>C (p.Phe168Leu)
n.824T>C
n.587T>C
14g.75004832T>GCA390425998EIF2B2c.529T>G (p.Phe177Val)
c.502T>G (p.Phe168Val)
n.824T>G
n.587T>G
 COSMIC
14g.75004832_75004846delCA615194102EIF2B2c.529_543del (p.Phe177_Ala181del)
c.502_516del (p.Phe168_Ala172del)
n.824_838del
n.587_601del
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.75004833T>ACA390426001EIF2B2c.530T>A (p.Phe177Tyr)
c.503T>A (p.Phe168Tyr)
n.825T>A
n.588T>A
14g.75004833T>CCA390426003EIF2B2c.530T>C (p.Phe177Ser)
c.503T>C (p.Phe168Ser)
n.825T>C
n.588T>C
14g.75004833T>GCA390426005EIF2B2c.530T>G (p.Phe177Cys)
c.503T>G (p.Phe168Cys)
n.825T>G
n.588T>G
14g.75004834C>ACA390426007EIF2B2c.531C>A (p.Phe177Leu)
c.504C>A (p.Phe168Leu)
n.826C>A
n.589C>A
14g.75004834C>GCA390426009EIF2B2c.531C>G (p.Phe177Leu)
c.504C>G (p.Phe168Leu)
n.826C>G
n.589C>G
14g.75004834C>TCA487177057EIF2B2c.531C>T (p.Phe177=)
c.504C>T (p.Phe168=)
n.826C>T
n.589C>T
 ClinVar
14g.75004835C>ACA390426014EIF2B2c.532C>A (p.Leu178Ile)
c.505C>A (p.Leu169Ile)
n.827C>A
n.590C>A
14g.75004835C>GCA390426012EIF2B2c.532C>G (p.Leu178Val)
c.505C>G (p.Leu169Val)
n.827C>G
n.590C>G
14g.75004835C>TCA390426010EIF2B2c.532C>T (p.Leu178Phe)
c.505C>T (p.Leu169Phe)
n.827C>T
n.590C>T
14g.75004836T>ACA390426016EIF2B2c.533T>A (p.Leu178His)
c.506T>A (p.Leu169His)
n.828T>A
n.591T>A
14g.75004836T>CCA390426018EIF2B2c.533T>C (p.Leu178Pro)
c.506T>C (p.Leu169Pro)
n.828T>C
n.591T>C
14g.75004836T>GCA390426020EIF2B2c.533T>G (p.Leu178Arg)
c.506T>G (p.Leu169Arg)
n.828T>G
n.591T>G
14g.75004837C>ACA487177058EIF2B2c.534C>A (p.Leu178=)
c.507C>A (p.Leu169=)
n.829C>A
n.592C>A
14g.75004837C>GCA487177059EIF2B2c.534C>G (p.Leu178=)
c.507C>G (p.Leu169=)
n.829C>G
n.592C>G
 COSMIC
14g.75004837C>TCA487177060EIF2B2c.534C>T (p.Leu178=)
c.507C>T (p.Leu169=)
n.829C>T
n.592C>T
14g.75004838A=CA2147299040EIF2B2c.535A= (p.Lys179=)
c.508A= (p.Lys170=)
n.830A=
n.593A=
14g.75004838A>CCA390426023EIF2B2c.535A>C (p.Lys179Gln)
c.508A>C (p.Lys170Gln)
n.830A>C
n.593A>C
 dbSNP gnomAD v2
14g.75004838A>GCA390426025EIF2B2c.535A>G (p.Lys179Glu)
c.508A>G (p.Lys170Glu)
n.830A>G
n.593A>G
14g.75004838A>TCA390426027EIF2B2c.535A>T (p.Lys179Ter)
c.508A>T (p.Lys170Ter)
n.830A>T
n.593A>T
14g.75004839A=CA2147299041EIF2B2c.536A= (p.Lys179=)
c.509A= (p.Lys170=)
n.831A=
n.594A=
14g.75004839A>CCA390426031EIF2B2c.536A>C (p.Lys179Thr)
c.509A>C (p.Lys170Thr)
n.831A>C
n.594A>C
14g.75004839A>GCA7274968EIF2B2c.536A>G (p.Lys179Arg)
c.509A>G (p.Lys170Arg)
n.831A>G
n.594A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.75004839A>TCA390426029EIF2B2c.536A>T (p.Lys179Ile)
c.509A>T (p.Lys170Ile)
n.831A>T
n.594A>T
14g.75004840A>CCA390426033EIF2B2c.537A>C (p.Lys179Asn)
c.510A>C (p.Lys170Asn)
n.832A>C
n.595A>C
14g.75004840A>GCA487177061EIF2B2c.537A>G (p.Lys179=)
c.510A>G (p.Lys170=)
n.832A>G
n.595A>G
14g.75004840A>TCA390426034EIF2B2c.537A>T (p.Lys179Asn)
c.510A>T (p.Lys170Asn)
n.832A>T
n.595A>T
14g.75004841G>ACA390426035EIF2B2c.538G>A (p.Glu180Lys)
c.511G>A (p.Glu171Lys)
n.833G>A
n.596G>A
14g.75004841G>CCA390426036EIF2B2c.538G>C (p.Glu180Gln)
c.511G>C (p.Glu171Gln)
n.833G>C
n.596G>C
14g.75004841G>TCA390426037EIF2B2c.538G>T (p.Glu180Ter)
c.511G>T (p.Glu171Ter)
n.833G>T
n.596G>T
14g.75004842A>CCA390426039EIF2B2c.539A>C (p.Glu180Ala)
c.512A>C (p.Glu171Ala)
n.834A>C
n.597A>C
 gnomAD v4
14g.75004842A>GCA390426040EIF2B2c.539A>G (p.Glu180Gly)
c.512A>G (p.Glu171Gly)
n.834A>G
n.597A>G
14g.75004842A>TCA390426042EIF2B2c.539A>T (p.Glu180Val)
c.512A>T (p.Glu171Val)
n.834A>T
n.597A>T
14g.75004843G>ACA487177063EIF2B2c.540G>A (p.Glu180=)
c.513G>A (p.Glu171=)
n.835G>A
n.598G>A
14g.75004843G>CCA7274969EIF2B2c.540G>C (p.Glu180Asp)
c.513G>C (p.Glu171Asp)
n.835G>C
n.598G>C
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.75004843G=CA2147299042EIF2B2c.540G= (p.Glu180=)
c.513G= (p.Glu171=)
n.835G=
n.598G=
14g.75004843G>TCA390426044EIF2B2c.540G>T (p.Glu180Asp)
c.513G>T (p.Glu171Asp)
n.835G>T
n.598G>T
14g.75004844G>ACA390426047EIF2B2c.541G>A (p.Ala181Thr)
c.514G>A (p.Ala172Thr)
n.836G>A
n.599G>A
 COSMIC
14g.75004844G>CCA390426048EIF2B2c.541G>C (p.Ala181Pro)
c.514G>C (p.Ala172Pro)
n.836G>C
n.599G>C
 gnomAD v4
14g.75004844G=CA2147299043EIF2B2c.541G= (p.Ala181=)
c.514G= (p.Ala172=)
n.836G=
n.599G=
14g.75004844G>TCA7274970EIF2B2c.541G>T (p.Ala181Ser)
c.514G>T (p.Ala172Ser)
n.836G>T
n.599G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.75004845C>ACA390426052EIF2B2c.542C>A (p.Ala181Asp)
c.515C>A (p.Ala172Asp)
n.837C>A
n.600C>A
14g.75004845C>GCA390426056EIF2B2c.542C>G (p.Ala181Gly)
c.515C>G (p.Ala172Gly)
n.837C>G
n.600C>G
14g.75004845C>TCA390426054EIF2B2c.542C>T (p.Ala181Val)
c.515C>T (p.Ala172Val)
n.837C>T
n.600C>T
14g.75004846T>ACA487177064EIF2B2c.543T>A (p.Ala181=)
c.516T>A (p.Ala172=)
n.838T>A
n.601T>A
14g.75004846T>CCA487177066EIF2B2c.543T>C (p.Ala181=)
c.516T>C (p.Ala172=)
n.838T>C
n.601T>C
14g.75004846T>GCA487177065EIF2B2c.543T>G (p.Ala181=)
c.516T>G (p.Ala172=)
n.838T>G
n.601T>G
14g.75004847G>ACA263654495EIF2B2c.544G>A (p.Ala182Thr)
c.517G>A (p.Ala173Thr)
n.839G>A
n.602G>A
 dbSNP gnomAD v3 gnomAD v4 COSMIC
14g.75004847G>CCA390426059EIF2B2c.544G>C (p.Ala182Pro)
c.517G>C (p.Ala173Pro)
n.839G>C
n.602G>C
14g.75004847G=CA2147299044EIF2B2c.544G= (p.Ala182=)
c.517G= (p.Ala173=)
n.839G=
n.602G=
14g.75004847G>TCA390426060EIF2B2c.544G>T (p.Ala182Ser)
c.517G>T (p.Ala173Ser)
n.839G>T
n.602G>T
 dbSNP gnomAD v2 gnomAD v4
14g.75004847dupCA2625718626EIF2B2c.544dup (p.Ala182GlyfsTer21)
c.517dup (p.Ala173GlyfsTer?)
n.839dup
n.602dup
c.544dup (p.Ala182GlyfsTer?)
 gnomAD v4
14g.75004848C>ACA390426062EIF2B2c.545C>A (p.Ala182Asp)
c.518C>A (p.Ala173Asp)
n.840C>A
n.603C>A
14g.75004848C=CA2147299045EIF2B2c.545C= (p.Ala182=)
c.518C= (p.Ala173=)
n.840C=
n.603C=
14g.75004848C>GCA390426064EIF2B2c.545C>G (p.Ala182Gly)
c.518C>G (p.Ala173Gly)
n.840C>G
n.603C>G
14g.75004848C>TCA390426066EIF2B2c.545C>T (p.Ala182Val)
c.518C>T (p.Ala173Val)
n.840C>T
n.603C>T
 dbSNP gnomAD v3 gnomAD v4
14g.75004849C>ACA487177067EIF2B2c.546C>A (p.Ala182=)
c.519C>A (p.Ala173=)
n.841C>A
n.604C>A
14g.75004849C>GCA487177068EIF2B2c.546C>G (p.Ala182=)
c.519C>G (p.Ala173=)
n.841C>G
n.604C>G
14g.75004849C>TCA487177069EIF2B2c.546C>T (p.Ala182=)
c.519C>T (p.Ala173=)
n.841C>T
n.604C>T
14g.75004850C>ACA487177070EIF2B2c.547C>A (p.Arg183=)
c.520C>A (p.Arg174=)
n.842C>A
n.605C>A
14g.75004850C=CA2147299046EIF2B2c.547C= (p.Arg183=)
c.520C= (p.Arg174=)
n.842C=
n.605C=
14g.75004850C>GCA390426069EIF2B2c.547C>G (p.Arg183Gly)
c.520C>G (p.Arg174Gly)
n.842C>G
n.605C>G
14g.75004850C>TCA116770EIF2B2c.547C>T (p.Arg183Ter)
c.520C>T (p.Arg174Ter)
n.842C>T
n.605C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.75004850_75004851delinsCGCA2147299047EIF2B2c.547_548delinsCG (p.Arg183=)
c.520_521delinsCG (p.Arg174=)
n.842_843delinsCG
n.605_606delinsCG
14g.75004851delCA7274971EIF2B2c.548del (p.Arg183GlnfsTer9)
c.521del (p.Arg174GlnfsTer9)
n.843del
n.606del
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.75004851G>ACA7274972EIF2B2c.548G>A (p.Arg183Gln)
c.521G>A (p.Arg174Gln)
n.843G>A
n.606G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.75004851G>CCA390426073EIF2B2c.548G>C (p.Arg183Pro)
c.521G>C (p.Arg174Pro)
n.843G>C
n.606G>C
14g.75004851G=CA2147299048EIF2B2c.548G= (p.Arg183=)
c.521G= (p.Arg174=)
n.843G=
n.606G=
14g.75004851G>TCA390426074EIF2B2c.548G>T (p.Arg183Leu)
c.521G>T (p.Arg174Leu)
n.843G>T
n.606G>T
14g.75004852A=CA2147299049EIF2B2c.549A= (p.Arg183=)
c.522A= (p.Arg174=)
n.844A=
n.607A=
14g.75004852A>CCA487177071EIF2B2c.549A>C (p.Arg183=)
c.522A>C (p.Arg174=)
n.844A>C
n.607A>C
 dbSNP
14g.75004852A>GCA487177072EIF2B2c.549A>G (p.Arg183=)
c.522A>G (p.Arg174=)
n.844A>G
n.607A>G
14g.75004852A>TCA487177073EIF2B2c.549A>T (p.Arg183=)
c.522A>T (p.Arg174=)
n.844A>T
n.607A>T
14g.75004854dupCA2575590204EIF2B2c.551dup (p.Arg185GlufsTer18)
c.524dup (p.Arg176GlufsTer30)
n.846dup
n.609dup
c.551dup (p.Arg185GlufsTer?)
 ClinVar gnomAD v4
14g.75004853A>CCA390426080EIF2B2c.550A>C (p.Lys184Gln)
c.523A>C (p.Lys175Gln)
n.845A>C
n.608A>C
14g.75004853A>GCA390426076EIF2B2c.550A>G (p.Lys184Glu)
c.523A>G (p.Lys175Glu)
n.845A>G
n.608A>G
 gnomAD v4
14g.75004853A>TCA390426078EIF2B2c.550A>T (p.Lys184Ter)
c.523A>T (p.Lys175Ter)
n.845A>T
n.608A>T
14g.75004854A>CCA390426082EIF2B2c.551A>C (p.Lys184Thr)
c.524A>C (p.Lys175Thr)
n.846A>C
n.609A>C
14g.75004854A>GCA390426083EIF2B2c.551A>G (p.Lys184Arg)
c.524A>G (p.Lys175Arg)
n.846A>G
n.609A>G
14g.75004854A>TCA390426085EIF2B2c.551A>T (p.Lys184Met)
c.524A>T (p.Lys175Met)
n.846A>T
n.609A>T
14g.75004855G>ACA487177074EIF2B2c.552G>A (p.Lys184=)
c.525G>A (p.Lys175=)
n.847G>A
n.610G>A
14g.75004855G>CCA390426088EIF2B2c.552G>C (p.Lys184Asn)
c.525G>C (p.Lys175Asn)
n.847G>C
n.610G>C
14g.75004855G>TCA390426089EIF2B2c.552G>T (p.Lys184Asn)
c.525G>T (p.Lys175Asn)
n.847G>T
n.610G>T
14g.75004856A>CCA487177075EIF2B2c.553A>C (p.Arg185=)
c.526A>C (p.Arg176=)
n.848A>C
n.611A>C
14g.75004856A>GCA390426092EIF2B2c.553A>G (p.Arg185Gly)
c.526A>G (p.Arg176Gly)
n.848A>G
n.611A>G
14g.75004856A>TCA390426094EIF2B2c.553A>T (p.Arg185Trp)
c.526A>T (p.Arg176Trp)
n.848A>T
n.611A>T
14g.75004857G>ACA390426096EIF2B2c.554G>A (p.Arg185Lys)
c.527G>A (p.Arg176Lys)
n.849G>A
n.612G>A
14g.75004857G>CCA390426098EIF2B2c.554G>C (p.Arg185Thr)
c.527G>C (p.Arg176Thr)
n.849G>C
n.612G>C
14g.75004857G>TCA390426100EIF2B2c.554G>T (p.Arg185Met)
c.527G>T (p.Arg176Met)
n.849G>T
n.612G>T
14g.75004858G>ACA487177076EIF2B2c.555G>A (p.Arg185=)
c.528G>A (p.Arg176=)
n.850G>A
n.613G>A
 ClinVar
14g.75004858G>CCA390426102EIF2B2c.555G>C (p.Arg185Ser)
c.528G>C (p.Arg176Ser)
n.850G>C
n.613G>C
14g.75004858G>TCA390426104EIF2B2c.555G>T (p.Arg185Ser)
c.528G>T (p.Arg176Ser)
n.850G>T
n.613G>T
14g.75004859A>CCA390426110EIF2B2c.556A>C (p.Lys186Gln)
c.529A>C (p.Lys177Gln)
n.851A>C
n.614A>C
14g.75004859A>GCA390426108EIF2B2c.556A>G (p.Lys186Glu)
c.529A>G (p.Lys177Glu)
n.851A>G
n.614A>G
14g.75004859A>TCA390426106EIF2B2c.556A>T (p.Lys186Ter)
c.529A>T (p.Lys177Ter)
n.851A>T
n.614A>T
14g.75004860A>CCA390426112EIF2B2c.557A>C (p.Lys186Thr)
c.530A>C (p.Lys177Thr)
n.852A>C
n.615A>C
 gnomAD v4
14g.75004860A>GCA390426115EIF2B2c.557A>G (p.Lys186Arg)
c.530A>G (p.Lys177Arg)
n.852A>G
n.615A>G
 gnomAD v4
14g.75004860A>TCA390426114EIF2B2c.557A>T (p.Lys186Ile)
c.530A>T (p.Lys177Ile)
n.852A>T
n.615A>T
14g.75004860_75004864delinsAATTCCA2147299050EIF2B2c.557_561delinsAATTC (p.Lys186=)
c.530_534delinsAATTC (p.Lys177=)
n.852_856delinsAATTC
n.615_619delinsAATTC
14g.75004861A>CCA390426117EIF2B2c.558A>C (p.Lys186Asn)
c.531A>C (p.Lys177Asn)
n.853A>C
n.616A>C
14g.75004861A>GCA487177077EIF2B2c.558A>G (p.Lys186=)
c.531A>G (p.Lys177=)
n.853A>G
n.616A>G
14g.75004861A>TCA390426119EIF2B2c.558A>T (p.Lys186Asn)
c.531A>T (p.Lys177Asn)
n.853A>T
n.616A>T
14g.75004861_75004864delCA2147299051EIF2B2c.558_561del (p.Lys186AsnfsTer5)
c.531_534del (p.Lys177AsnfsTer5)
n.853_856del
n.616_619del
 dbSNP
14g.75004862T>ACA390426122EIF2B2c.559T>A (p.Phe187Ile)
c.532T>A (p.Phe178Ile)
n.854T>A
n.617T>A
14g.75004862T>CCA390426126EIF2B2c.559T>C (p.Phe187Leu)
c.532T>C (p.Phe178Leu)
n.854T>C
n.617T>C
14g.75004862T>GCA390426124EIF2B2c.559T>G (p.Phe187Val)
c.532T>G (p.Phe178Val)
n.854T>G
n.617T>G
14g.75004863T>ACA390426128EIF2B2c.560T>A (p.Phe187Tyr)
c.533T>A (p.Phe178Tyr)
n.855T>A
n.618T>A
14g.75004863T>CCA390426130EIF2B2c.560T>C (p.Phe187Ser)
c.533T>C (p.Phe178Ser)
n.855T>C
n.618T>C
14g.75004863T>GCA390426131EIF2B2c.560T>G (p.Phe187Cys)
c.533T>G (p.Phe178Cys)
n.855T>G
n.618T>G
14g.75004864C>ACA390426133EIF2B2c.561C>A (p.Phe187Leu)
c.534C>A (p.Phe178Leu)
n.856C>A
n.619C>A
14g.75004864C>GCA390426135EIF2B2c.561C>G (p.Phe187Leu)
c.534C>G (p.Phe178Leu)
n.856C>G
n.619C>G
14g.75004864C>TCA487177078EIF2B2c.561C>T (p.Phe187=)
c.534C>T (p.Phe178=)
n.856C>T
n.619C>T
 ClinVar dbSNP
14g.75004865C>ACA390426137EIF2B2c.562C>A (p.His188Asn)
c.535C>A (p.His179Asn)
n.857C>A
n.620C>A
14g.75004865C>GCA390426138EIF2B2c.562C>G (p.His188Asp)
c.535C>G (p.His179Asp)
n.857C>G
n.620C>G
14g.75004865C>TCA390426140EIF2B2c.562C>T (p.His188Tyr)
c.535C>T (p.His179Tyr)
n.857C>T
n.620C>T
 ClinVar
14g.75004866A=CA2147299052EIF2B2c.563A= (p.His188=)
c.536A= (p.His179=)
n.858A=
n.621A=
14g.75004866A>CCA390426142EIF2B2c.563A>C (p.His188Pro)
c.536A>C (p.His179Pro)
n.858A>C
n.621A>C
14g.75004866A>GCA390426143EIF2B2c.563A>G (p.His188Arg)
c.536A>G (p.His179Arg)
n.858A>G
n.621A>G
14g.75004866A>TCA390426146EIF2B2c.563A>T (p.His188Leu)
c.536A>T (p.His179Leu)
n.858A>T
n.621A>T
 dbSNP
14g.75004867T>ACA390426148EIF2B2c.564T>A (p.His188Gln)
c.537T>A (p.His179Gln)
n.859T>A
n.622T>A
14g.75004867T>CCA487177079EIF2B2c.564T>C (p.His188=)
c.537T>C (p.His179=)
n.859T>C
n.622T>C
14g.75004867T>GCA390426150EIF2B2c.564T>G (p.His188Gln)
c.537T>G (p.His179Gln)
n.859T>G
n.622T>G
14g.75004868G>ACA390426152EIF2B2c.565G>A (p.Val189Ile)
c.538G>A (p.Val180Ile)
n.860G>A
n.623G>A
14g.75004868G>CCA390426156EIF2B2c.565G>C (p.Val189Leu)
c.538G>C (p.Val180Leu)
n.860G>C
n.623G>C
14g.75004868G>TCA390426154EIF2B2c.565G>T (p.Val189Phe)
c.538G>T (p.Val180Phe)
n.860G>T
n.623G>T
14g.75004869T>ACA390426158EIF2B2c.566T>A (p.Val189Asp)
c.539T>A (p.Val180Asp)
n.861T>A
n.624T>A
14g.75004869T>CCA390426160EIF2B2c.566T>C (p.Val189Ala)
c.539T>C (p.Val180Ala)
n.861T>C
n.624T>C
 gnomAD v4
14g.75004869T>GCA390426162EIF2B2c.566T>G (p.Val189Gly)
c.539T>G (p.Val180Gly)
n.861T>G
n.624T>G
14g.75004870C>ACA487177080EIF2B2c.567C>A (p.Val189=)
c.540C>A (p.Val180=)
n.862C>A
n.625C>A
 ClinVar
14g.75004870C>GCA487177082EIF2B2c.567C>G (p.Val189=)
c.540C>G (p.Val180=)
n.862C>G
n.625C>G
14g.75004870C>TCA487177081EIF2B2c.567C>T (p.Val189=)
c.540C>T (p.Val180=)
n.862C>T
n.625C>T
14g.75004871A=CA2147299054EIF2B2c.568A= (p.Ile190=)
c.541A= (p.Ile181=)
n.863A=
n.626A=
14g.75004871A>CCA390426163EIF2B2c.568A>C (p.Ile190Leu)
c.541A>C (p.Ile181Leu)
n.863A>C
n.626A>C
14g.75004871A>GCA390426164EIF2B2c.568A>G (p.Ile190Val)
c.541A>G (p.Ile181Val)
n.863A>G
n.626A>G
 dbSNP gnomAD v4
14g.75004871A>TCA390426166EIF2B2c.568A>T (p.Ile190Phe)
c.541A>T (p.Ile181Phe)
n.863A>T
n.626A>T
14g.75004871_75004872delinsATCA2147299053EIF2B2c.568_569delinsAT (p.Ile190=)
c.541_542delinsAT (p.Ile181=)
n.863_864delinsAT
n.626_627delinsAT
14g.75004872T>ACA390426169EIF2B2c.569T>A (p.Ile190Asn)
c.542T>A (p.Ile181Asn)
n.864T>A
n.627T>A
14g.75004872T>CCA390426171EIF2B2c.569T>C (p.Ile190Thr)
c.542T>C (p.Ile181Thr)
n.864T>C
n.627T>C
 ClinVar dbSNP gnomAD v4
14g.75004872T>GCA390426172EIF2B2c.569T>G (p.Ile190Ser)
c.542T>G (p.Ile181Ser)
n.864T>G
n.627T>G
14g.75004873delCA7274973EIF2B2c.570del (p.Ile190MetfsTer2)
c.543del (p.Ile181MetfsTer2)
n.865del
n.628del
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.75004873T>ACA487177083EIF2B2c.570T>A (p.Ile190=)
c.543T>A (p.Ile181=)
n.865T>A
n.628T>A
14g.75004873T>CCA7274975EIF2B2c.570T>C (p.Ile190=)
c.543T>C (p.Ile181=)
n.865T>C
n.628T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.75004873T>GCA7274974EIF2B2c.570T>G (p.Ile190Met)
c.543T>G (p.Ile181Met)
n.865T>G
n.628T>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.75004873T=CA2147299055EIF2B2c.570T= (p.Ile190=)
c.543T= (p.Ile181=)
n.865T=
n.628T=
14g.75004874G>ACA390426178EIF2B2c.571G>A (p.Val191Ile)
c.544G>A (p.Val182Ile)
n.866G>A
n.629G>A
14g.75004874G>CCA390426180EIF2B2c.571G>C (p.Val191Leu)
c.544G>C (p.Val182Leu)
n.866G>C
n.629G>C
14g.75004874G>TCA390426182EIF2B2c.571G>T (p.Val191Leu)
c.544G>T (p.Val182Leu)
n.866G>T
n.629G>T
14g.75004875T>ACA390426185EIF2B2c.572T>A (p.Val191Glu)
c.545T>A (p.Val182Glu)
n.867T>A
n.630T>A
14g.75004875T>CCA390426187EIF2B2c.572T>C (p.Val191Ala)
c.545T>C (p.Val182Ala)
n.867T>C
n.630T>C
14g.75004875T>GCA390426188EIF2B2c.572T>G (p.Val191Gly)
c.545T>G (p.Val182Gly)
n.867T>G
n.630T>G
14g.75004876A=CA2147299056EIF2B2c.573A= (p.Val191=)
c.546A= (p.Val182=)
n.868A=
n.631A=
14g.75004876A>CCA263654541EIF2B2c.573A>C (p.Val191=)
c.546A>C (p.Val182=)
n.868A>C
n.631A>C
 dbSNP
14g.75004876A>GCA487177084EIF2B2c.573A>G (p.Val191=)
c.546A>G (p.Val182=)
n.868A>G
n.631A>G
14g.75004876A>TCA487177085EIF2B2c.573A>T (p.Val191=)
c.546A>T (p.Val182=)
n.868A>T
n.631A>T
14g.75004877G>ACA390426189EIF2B2c.574G>A (p.Ala192Thr)
c.547G>A (p.Ala183Thr)
n.869G>A
n.632G>A
14g.75004877G>CCA390426191EIF2B2c.574G>C (p.Ala192Pro)
c.547G>C (p.Ala183Pro)
n.869G>C
n.632G>C
14g.75004877G>TCA390426193EIF2B2c.574G>T (p.Ala192Ser)
c.547G>T (p.Ala183Ser)
n.869G>T
n.632G>T
14g.75004878C>ACA390426195EIF2B2c.575C>A (p.Ala192Glu)
c.548C>A (p.Ala183Glu)
n.870C>A
n.633C>A
14g.75004878C>GCA390426197EIF2B2c.575C>G (p.Ala192Gly)
c.548C>G (p.Ala183Gly)
n.870C>G
n.633C>G
14g.75004878C>TCA390426199EIF2B2c.575C>T (p.Ala192Val)
c.548C>T (p.Ala183Val)
n.870C>T
n.633C>T
14g.75004879A=CA2147299057EIF2B2c.576A= (p.Ala192=)
c.549A= (p.Ala183=)
n.871A=
n.634A=
14g.75004879A>CCA487177086EIF2B2c.576A>C (p.Ala192=)
c.549A>C (p.Ala183=)
n.871A>C
n.634A>C
 dbSNP gnomAD v2 gnomAD v4
14g.75004879A>GCA487177087EIF2B2c.576A>G (p.Ala192=)
c.549A>G (p.Ala183=)
n.871A>G
n.634A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.75004879A>TCA487177088EIF2B2c.576A>T (p.Ala192=)
c.549A>T (p.Ala183=)
n.871A>T
n.634A>T
14g.75004880G>ACA263654552EIF2B2c.577G>A (p.Glu193Lys)
c.550G>A (p.Glu184Lys)
n.872G>A
n.635G>A
 dbSNP
14g.75004880G>CCA390426204EIF2B2c.577G>C (p.Glu193Gln)
c.550G>C (p.Glu184Gln)
n.872G>C
n.635G>C
14g.75004880G=CA2147299058EIF2B2c.577G= (p.Glu193=)
c.550G= (p.Glu184=)
n.872G=
n.635G=
14g.75004880G>TCA390426201EIF2B2c.577G>T (p.Glu193Ter)
c.550G>T (p.Glu184Ter)
n.872G>T
n.635G>T
14g.75004881A>CCA390426206EIF2B2c.578A>C (p.Glu193Ala)
c.551A>C (p.Glu184Ala)
n.873A>C
n.636A>C
14g.75004881A>GCA390426210EIF2B2c.578A>G (p.Glu193Gly)
c.551A>G (p.Glu184Gly)
n.873A>G
n.636A>G
 gnomAD v4
14g.75004881A>TCA390426212EIF2B2c.578A>T (p.Glu193Val)
c.551A>T (p.Glu184Val)
n.873A>T
n.636A>T
14g.75004882G>ACA487177089EIF2B2c.579G>A (p.Glu193=)
c.552G>A (p.Glu184=)
n.874G>A
n.637G>A
14g.75004882G>CCA390426214EIF2B2c.579G>C (p.Glu193Asp)
c.552G>C (p.Glu184Asp)
n.874G>C
n.637G>C
14g.75004882G>TCA390426216EIF2B2c.579G>T (p.Glu193Asp)
c.552G>T (p.Glu184Asp)
n.874G>T
n.637G>T
14g.75004883T>ACA390426222EIF2B2c.580T>A (p.Cys194Ser)
c.553T>A (p.Cys185Ser)
n.875T>A
n.638T>A
14g.75004883T>CCA390426219EIF2B2c.580T>C (p.Cys194Arg)
c.553T>C (p.Cys185Arg)
n.875T>C
n.638T>C
 dbSNP
14g.75004883T>GCA390426220EIF2B2c.580T>G (p.Cys194Gly)
c.553T>G (p.Cys185Gly)
n.875T>G
n.638T>G
14g.75004883T=CA2147299059EIF2B2c.580T= (p.Cys194=)
c.553T= (p.Cys185=)
n.875T=
n.638T=
14g.75004884G>ACA390426224EIF2B2c.581G>A (p.Cys194Tyr)
c.554G>A (p.Cys185Tyr)
n.876G>A
n.639G>A
 ClinVar dbSNP
14g.75004884G>CCA390426226EIF2B2c.581G>C (p.Cys194Ser)
c.554G>C (p.Cys185Ser)
n.876G>C
n.639G>C
14g.75004884G=CA2147299060EIF2B2c.581G= (p.Cys194=)
c.554G= (p.Cys185=)
n.876G=
n.639G=
14g.75004884G>TCA390426228EIF2B2c.581G>T (p.Cys194Phe)
c.554G>T (p.Cys185Phe)
n.876G>T
n.639G>T
14g.75004885T>ACA7274976EIF2B2c.582T>A (p.Cys194Ter)
c.555T>A (p.Cys185Ter)
n.877T>A
n.640T>A
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.75004885T>CCA487177090EIF2B2c.582T>C (p.Cys194=)
c.555T>C (p.Cys185=)
n.877T>C
n.640T>C
14g.75004885T>GCA390426232EIF2B2c.582T>G (p.Cys194Trp)
c.555T>G (p.Cys185Trp)
n.877T>G
n.640T>G
14g.75004885T=CA2147299061EIF2B2c.582T= (p.Cys194=)
c.555T= (p.Cys185=)
n.877T=
n.640T=
14g.75004886_75004888dupCA2573150186EIF2B2c.583_585dup (p.Ala195_Pro196insAla)
c.556_558dup (p.Ala186_Pro187insAla)
n.878_880dup
n.641_643dup
 ClinVar dbSNP
14g.75004886G>ACA390426237EIF2B2c.583G>A (p.Ala195Thr)
c.556G>A (p.Ala186Thr)
n.878G>A
n.641G>A
14g.75004886G>CCA390426236EIF2B2c.583G>C (p.Ala195Pro)
c.556G>C (p.Ala186Pro)
n.878G>C
n.641G>C
14g.75004886G=CA2147299062EIF2B2c.583G= (p.Ala195=)
c.556G= (p.Ala186=)
n.878G=
n.641G=
14g.75004886G>TCA7274977EIF2B2c.583G>T (p.Ala195Ser)
c.556G>T (p.Ala186Ser)
n.878G>T
n.641G>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.75004886_75004889delinsGCTCCA2147299063EIF2B2c.583_586delinsGCTC (p.Ala195=)
c.556_559delinsGCTC (p.Ala186=)
n.878_881delinsGCTC
n.641_644delinsGCTC
14g.75004887C>ACA390426239EIF2B2c.584C>A (p.Ala195Asp)
c.557C>A (p.Ala186Asp)
n.879C>A
n.642C>A
14g.75004887C>GCA390426243EIF2B2c.584C>G (p.Ala195Gly)
c.557C>G (p.Ala186Gly)
n.879C>G
n.642C>G
14g.75004887C>TCA390426241EIF2B2c.584C>T (p.Ala195Val)
c.557C>T (p.Ala186Val)
n.879C>T
n.642C>T
 gnomAD v4
14g.75004889_75004891delCA2147299064EIF2B2c.586_588del (p.Pro196del)
c.559_561del (p.Pro187del)
n.881_883del
n.644_646del
 dbSNP
14g.75004888T>ACA487177091EIF2B2c.585T>A (p.Ala195=)
c.558T>A (p.Ala186=)
n.880T>A
n.643T>A
14g.75004888T>CCA487177093EIF2B2c.585T>C (p.Ala195=)
c.558T>C (p.Ala186=)
n.880T>C
n.643T>C
14g.75004888T>GCA487177092EIF2B2c.585T>G (p.Ala195=)
c.558T>G (p.Ala186=)
n.880T>G
n.643T>G
14g.75004889C>ACA390426245EIF2B2c.586C>A (p.Pro196Thr)
c.559C>A (p.Pro187Thr)
n.881C>A
n.644C>A
14g.75004889C=CA2147299065EIF2B2c.586C= (p.Pro196=)
c.559C= (p.Pro187=)
n.881C=
n.644C=
14g.75004889C>GCA390426247EIF2B2c.586C>G (p.Pro196Ala)
c.559C>G (p.Pro187Ala)
n.881C>G
n.644C>G
14g.75004889C>TCA7274978EIF2B2c.586C>T (p.Pro196Ser)
c.559C>T (p.Pro187Ser)
n.881C>T
n.644C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched