Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.184372750G>ACA355461563EIF2B5,THPOc.1245C>T (p.Ser415=)
c.825C>T (p.Ser275=)
c.808C>T (p.Leu270Phe)
c.709C>T (p.Leu237Phe)
c.2106+228043G>A (n.2106+228043G>A)
c.813C>T (p.Ser271=)
c.1117C>T (p.Leu373Phe)
 gnomAD v4
3g.184372750G>CCA355461564EIF2B5,THPOc.1245C>G (p.Ser415=)
c.825C>G (p.Ser275=)
c.808C>G (p.Leu270Val)
c.709C>G (p.Leu237Val)
c.2106+228043G>C (n.2106+228043G>C)
c.813C>G (p.Ser271=)
c.1117C>G (p.Leu373Val)
3g.184372750G>TCA355461565EIF2B5,THPOc.1245C>A (p.Ser415=)
c.825C>A (p.Ser275=)
c.808C>A (p.Leu270Ile)
c.709C>A (p.Leu237Ile)
c.2106+228043G>T (n.2106+228043G>T)
c.813C>A (p.Ser271=)
c.1117C>A (p.Leu373Ile)
3g.184372751delCA2573136814EIF2B5,THPOc.1245del (p.Ser416GlnfsTer?)
c.825del (p.Ser276GlnfsTer?)
c.808del (p.Leu270SerfsTer?)
c.709del (p.Leu237SerfsTer?)
c.2106+228044del (n.2106+228044del)
c.813del (p.Ser272GlnfsTer?)
c.1117del (p.Leu373SerfsTer?)
 ClinVar dbSNP
3g.184372751G>ACA355461566EIF2B5,THPOc.1244C>T (p.Ser415Phe)
c.824C>T (p.Ser275Phe)
c.807C>T (p.Phe269=)
c.708C>T (p.Phe236=)
c.2106+228044G>A (n.2106+228044G>A)
c.812C>T (p.Ser271Phe)
c.1116C>T (p.Phe372=)
3g.184372751G>CCA355461567EIF2B5,THPOc.1244C>G (p.Ser415Cys)
c.824C>G (p.Ser275Cys)
c.807C>G (p.Phe269Leu)
c.708C>G (p.Phe236Leu)
c.2106+228044G>C (n.2106+228044G>C)
c.812C>G (p.Ser271Cys)
c.1116C>G (p.Phe372Leu)
3g.184372751G>TCA355461568EIF2B5,THPOc.1244C>A (p.Ser415Tyr)
c.824C>A (p.Ser275Tyr)
c.807C>A (p.Phe269Leu)
c.708C>A (p.Phe236Leu)
c.2106+228044G>T (n.2106+228044G>T)
c.812C>A (p.Ser271Tyr)
c.1116C>A (p.Phe372Leu)
 gnomAD v2 gnomAD v4
3g.184372752A>CCA355461571EIF2B5,THPOc.1243T>G (p.Ser415Ala)
c.823T>G (p.Ser275Ala)
c.806T>G (p.Phe269Cys)
c.707T>G (p.Phe236Cys)
c.2106+228045A>C (n.2106+228045A>C)
c.811T>G (p.Ser271Ala)
c.1115T>G (p.Phe372Cys)
3g.184372752A>GCA355461570EIF2B5,THPOc.1243T>C (p.Ser415Pro)
c.823T>C (p.Ser275Pro)
c.806T>C (p.Phe269Ser)
c.707T>C (p.Phe236Ser)
c.2106+228045A>G (n.2106+228045A>G)
c.811T>C (p.Ser271Pro)
c.1115T>C (p.Phe372Ser)
3g.184372752A>TCA355461569EIF2B5,THPOc.1243T>A (p.Ser415Thr)
c.823T>A (p.Ser275Thr)
c.806T>A (p.Phe269Tyr)
c.707T>A (p.Phe236Tyr)
c.2106+228045A>T (n.2106+228045A>T)
c.811T>A (p.Ser271Thr)
c.1115T>A (p.Phe372Tyr)
3g.184372753A>CCA355461572EIF2B5,THPOc.1242T>G (p.Ile414Met)
c.822T>G (p.Ile274Met)
c.805T>G (p.Phe269Val)
c.706T>G (p.Phe236Val)
c.2106+228046A>C (n.2106+228046A>C)
c.810T>G (p.Ile270Met)
c.1114T>G (p.Phe372Val)
3g.184372753A>GCA355461573EIF2B5,THPOc.1242T>C (p.Ile414=)
c.822T>C (p.Ile274=)
c.805T>C (p.Phe269Leu)
c.706T>C (p.Phe236Leu)
c.2106+228046A>G (n.2106+228046A>G)
c.810T>C (p.Ile270=)
c.1114T>C (p.Phe372Leu)
3g.184372753A>TCA355461574EIF2B5,THPOc.1242T>A (p.Ile414=)
c.822T>A (p.Ile274=)
c.805T>A (p.Phe269Ile)
c.706T>A (p.Phe236Ile)
c.2106+228046A>T (n.2106+228046A>T)
c.810T>A (p.Ile270=)
c.1114T>A (p.Phe372Ile)
3g.184372754A>CCA355461575EIF2B5,THPOc.1241T>G (p.Ile414Ser)
c.821T>G (p.Ile274Ser)
c.804T>G (p.His268Gln)
c.705T>G (p.His235Gln)
c.2106+228047A>C (n.2106+228047A>C)
c.809T>G (p.Ile270Ser)
c.1113T>G (p.His371Gln)
3g.184372754A>GCA355461576EIF2B5,THPOc.1241T>C (p.Ile414Thr)
c.821T>C (p.Ile274Thr)
c.804T>C (p.His268=)
c.705T>C (p.His235=)
c.2106+228047A>G (n.2106+228047A>G)
c.809T>C (p.Ile270Thr)
c.1113T>C (p.His371=)
3g.184372754A>TCA355461577EIF2B5,THPOc.1241T>A (p.Ile414Asn)
c.821T>A (p.Ile274Asn)
c.804T>A (p.His268Gln)
c.705T>A (p.His235Gln)
c.2106+228047A>T (n.2106+228047A>T)
c.809T>A (p.Ile270Asn)
c.1113T>A (p.His371Gln)
3g.184372755T>ACA355461580EIF2B5,THPOc.1240A>T (p.Ile414Phe)
c.820A>T (p.Ile274Phe)
c.803A>T (p.His268Leu)
c.704A>T (p.His235Leu)
c.2106+228048T>A (n.2106+228048T>A)
c.808A>T (p.Ile270Phe)
c.1112A>T (p.His371Leu)
 gnomAD v4
3g.184372755T>CCA355461579EIF2B5,THPOc.1240A>G (p.Ile414Val)
c.820A>G (p.Ile274Val)
c.803A>G (p.His268Arg)
c.704A>G (p.His235Arg)
c.2106+228048T>C (n.2106+228048T>C)
c.808A>G (p.Ile270Val)
c.1112A>G (p.His371Arg)
 COSMIC
3g.184372755T>GCA355461578EIF2B5,THPOc.1240A>C (p.Ile414Leu)
c.820A>C (p.Ile274Leu)
c.803A>C (p.His268Pro)
c.704A>C (p.His235Pro)
c.2106+228048T>G (n.2106+228048T>G)
c.808A>C (p.Ile270Leu)
c.1112A>C (p.His371Pro)
3g.184372756G>ACA355461581EIF2B5,THPOc.1239C>T (p.Asp413=)
c.819C>T (p.Asp273=)
c.802C>T (p.His268Tyr)
c.703C>T (p.His235Tyr)
c.2106+228049G>A (n.2106+228049G>A)
c.807C>T (p.Asp269=)
c.1111C>T (p.His371Tyr)
 dbSNP
3g.184372756G>CCA355461582EIF2B5,THPOc.1239C>G (p.Asp413Glu)
c.819C>G (p.Asp273Glu)
c.802C>G (p.His268Asp)
c.703C>G (p.His235Asp)
c.2106+228049G>C (n.2106+228049G>C)
c.807C>G (p.Asp269Glu)
c.1111C>G (p.His371Asp)
3g.184372756G=CA1425997803EIF2B5,THPOc.1239C= (p.Asp413=)
c.819C= (p.Asp273=)
c.802C= (p.His268=)
c.703C= (p.His235=)
c.2106+228049G= (n.2106+228049G=)
c.807C= (p.Asp269=)
c.1111C= (p.His371=)
3g.184372756G>TCA2734860EIF2B5,THPOc.1239C>A (p.Asp413Glu)
c.819C>A (p.Asp273Glu)
c.802C>A (p.His268Asn)
c.703C>A (p.His235Asn)
c.2106+228049G>T (n.2106+228049G>T)
c.807C>A (p.Asp269Glu)
c.1111C>A (p.His371Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.184372757T>ACA355461583EIF2B5,THPOc.1238A>T (p.Asp413Val)
c.818A>T (p.Asp273Val)
c.801A>T (p.Gly267=)
c.702A>T (p.Gly234=)
c.2106+228050T>A (n.2106+228050T>A)
c.806A>T (p.Asp269Val)
c.1110A>T (p.Gly370=)
3g.184372757T>CCA88912202EIF2B5,THPOc.1238A>G (p.Asp413Gly)
c.818A>G (p.Asp273Gly)
c.801A>G (p.Gly267=)
c.702A>G (p.Gly234=)
c.2106+228050T>C (n.2106+228050T>C)
c.806A>G (p.Asp269Gly)
c.1110A>G (p.Gly370=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.184372757T>GCA355461584EIF2B5,THPOc.1238A>C (p.Asp413Ala)
c.818A>C (p.Asp273Ala)
c.801A>C (p.Gly267=)
c.702A>C (p.Gly234=)
c.2106+228050T>G (n.2106+228050T>G)
c.806A>C (p.Asp269Ala)
c.1110A>C (p.Gly370=)
3g.184372757T=CA1425997804EIF2B5,THPOc.1238A= (p.Asp413=)
c.818A= (p.Asp273=)
c.801A= (p.Gly267=)
c.702A= (p.Gly234=)
c.2106+228050T= (n.2106+228050T=)
c.806A= (p.Asp269=)
c.1110A= (p.Gly370=)
3g.184372758C>ACA355461585EIF2B5,THPOc.1237G>T (p.Asp413Tyr)
c.817G>T (p.Asp273Tyr)
c.800G>T (p.Gly267Val)
c.701G>T (p.Gly234Val)
c.2106+228051C>A (n.2106+228051C>A)
c.805G>T (p.Asp269Tyr)
c.1109G>T (p.Gly370Val)
3g.184372758C>GCA355461587EIF2B5,THPOc.1237G>C (p.Asp413His)
c.817G>C (p.Asp273His)
c.800G>C (p.Gly267Ala)
c.701G>C (p.Gly234Ala)
c.2106+228051C>G (n.2106+228051C>G)
c.805G>C (p.Asp269His)
c.1109G>C (p.Gly370Ala)
 gnomAD v4
3g.184372758C>TCA355461586EIF2B5,THPOc.1237G>A (p.Asp413Asn)
c.817G>A (p.Asp273Asn)
c.800G>A (p.Gly267Glu)
c.701G>A (p.Gly234Glu)
c.2106+228051C>T (n.2106+228051C>T)
c.805G>A (p.Asp269Asn)
c.1109G>A (p.Gly370Glu)
 gnomAD v4
3g.184372759C>ACA355461588EIF2B5,THPOc.1236G>T (p.Pro412=)
c.816G>T (p.Pro272=)
c.799G>T (p.Gly267Ter)
c.700G>T (p.Gly234Ter)
c.2106+228052C>A (n.2106+228052C>A)
c.804G>T (p.Pro268=)
c.1108G>T (p.Gly370Ter)
 COSMIC
3g.184372759C=CA1425997805EIF2B5,THPOc.1236G= (p.Pro412=)
c.816G= (p.Pro272=)
c.799G= (p.Gly267=)
c.700G= (p.Gly234=)
c.2106+228052C= (n.2106+228052C=)
c.804G= (p.Pro268=)
c.1108G= (p.Gly370=)
3g.184372759C>GCA355461589EIF2B5,THPOc.1236G>C (p.Pro412=)
c.816G>C (p.Pro272=)
c.799G>C (p.Gly267Arg)
c.700G>C (p.Gly234Arg)
c.2106+228052C>G (n.2106+228052C>G)
c.804G>C (p.Pro268=)
c.1108G>C (p.Gly370Arg)
 gnomAD v4
3g.184372759C>TCA2734861EIF2B5,THPOc.1236G>A (p.Pro412=)
c.816G>A (p.Pro272=)
c.799G>A (p.Gly267Arg)
c.700G>A (p.Gly234Arg)
c.2106+228052C>T (n.2106+228052C>T)
c.804G>A (p.Pro268=)
c.1108G>A (p.Gly370Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.184372760G>ACA2734862EIF2B5,THPOc.1235C>T (p.Pro412Leu)
c.815C>T (p.Pro272Leu)
c.798C>T (p.Pro266=)
c.699C>T (p.Pro233=)
c.2106+228053G>A (n.2106+228053G>A)
c.803C>T (p.Pro268Leu)
c.1107C>T (p.Pro369=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.184372760G>CCA355461590EIF2B5,THPOc.1235C>G (p.Pro412Arg)
c.815C>G (p.Pro272Arg)
c.798C>G (p.Pro266=)
c.699C>G (p.Pro233=)
c.2106+228053G>C (n.2106+228053G>C)
c.803C>G (p.Pro268Arg)
c.1107C>G (p.Pro369=)
3g.184372760G=CA1425997806EIF2B5,THPOc.1235C= (p.Pro412=)
c.815C= (p.Pro272=)
c.798C= (p.Pro266=)
c.699C= (p.Pro233=)
c.2106+228053G= (n.2106+228053G=)
c.803C= (p.Pro268=)
c.1107C= (p.Pro369=)
3g.184372760G>TCA355461591EIF2B5,THPOc.1235C>A (p.Pro412Gln)
c.815C>A (p.Pro272Gln)
c.798C>A (p.Pro266=)
c.699C>A (p.Pro233=)
c.2106+228053G>T (n.2106+228053G>T)
c.803C>A (p.Pro268Gln)
c.1107C>A (p.Pro369=)
3g.184372761G>ACA355461592EIF2B5,THPOc.1234C>T (p.Pro412Ser)
c.814C>T (p.Pro272Ser)
c.797C>T (p.Pro266Leu)
c.698C>T (p.Pro233Leu)
c.2106+228054G>A (n.2106+228054G>A)
c.802C>T (p.Pro268Ser)
c.1106C>T (p.Pro369Leu)
3g.184372761G>CCA355461593EIF2B5,THPOc.1234C>G (p.Pro412Ala)
c.814C>G (p.Pro272Ala)
c.797C>G (p.Pro266Arg)
c.698C>G (p.Pro233Arg)
c.2106+228054G>C (n.2106+228054G>C)
c.802C>G (p.Pro268Ala)
c.1106C>G (p.Pro369Arg)
3g.184372761G>TCA355461594EIF2B5,THPOc.1234C>A (p.Pro412Thr)
c.814C>A (p.Pro272Thr)
c.797C>A (p.Pro266His)
c.698C>A (p.Pro233His)
c.2106+228054G>T (n.2106+228054G>T)
c.802C>A (p.Pro268Thr)
c.1106C>A (p.Pro369His)
3g.184372762G>ACA2734863EIF2B5,THPOc.1233C>T (p.Ala411=)
c.813C>T (p.Ala271=)
c.796C>T (p.Pro266Ser)
c.697C>T (p.Pro233Ser)
c.2106+228055G>A (n.2106+228055G>A)
c.801C>T (p.Ala267=)
c.1105C>T (p.Pro369Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.184372762G>CCA355461595EIF2B5,THPOc.1233C>G (p.Ala411=)
c.813C>G (p.Ala271=)
c.796C>G (p.Pro266Ala)
c.697C>G (p.Pro233Ala)
c.2106+228055G>C (n.2106+228055G>C)
c.801C>G (p.Ala267=)
c.1105C>G (p.Pro369Ala)
3g.184372762G=CA1425997807EIF2B5,THPOc.1233C= (p.Ala411=)
c.813C= (p.Ala271=)
c.796C= (p.Pro266=)
c.697C= (p.Pro233=)
c.2106+228055G= (n.2106+228055G=)
c.801C= (p.Ala267=)
c.1105C= (p.Pro369=)
3g.184372762G>TCA355461596EIF2B5,THPOc.1233C>A (p.Ala411=)
c.813C>A (p.Ala271=)
c.796C>A (p.Pro266Thr)
c.697C>A (p.Pro233Thr)
c.2106+228055G>T (n.2106+228055G>T)
c.801C>A (p.Ala267=)
c.1105C>A (p.Pro369Thr)
3g.184372763G>ACA355461597EIF2B5,THPOc.1232C>T (p.Ala411Val)
c.812C>T (p.Ala271Val)
c.795C>T (p.Ser265=)
c.696C>T (p.Ser232=)
c.2106+228056G>A (n.2106+228056G>A)
c.800C>T (p.Ala267Val)
c.1104C>T (p.Ser368=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.184372763G>CCA355461599EIF2B5,THPOc.1232C>G (p.Ala411Gly)
c.812C>G (p.Ala271Gly)
c.795C>G (p.Ser265Arg)
c.696C>G (p.Ser232Arg)
c.2106+228056G>C (n.2106+228056G>C)
c.800C>G (p.Ala267Gly)
c.1104C>G (p.Ser368Arg)
3g.184372763G=CA1425997808EIF2B5,THPOc.1232C= (p.Ala411=)
c.812C= (p.Ala271=)
c.795C= (p.Ser265=)
c.696C= (p.Ser232=)
c.2106+228056G= (n.2106+228056G=)
c.800C= (p.Ala267=)
c.1104C= (p.Ser368=)
3g.184372763G>TCA355461598EIF2B5,THPOc.1232C>A (p.Ala411Asp)
c.812C>A (p.Ala271Asp)
c.795C>A (p.Ser265Arg)
c.696C>A (p.Ser232Arg)
c.2106+228056G>T (n.2106+228056G>T)
c.800C>A (p.Ala267Asp)
c.1104C>A (p.Ser368Arg)
 gnomAD v4
3g.184372764C>ACA355461600EIF2B5,THPOc.1231G>T (p.Ala411Ser)
c.811G>T (p.Ala271Ser)
c.794G>T (p.Ser265Ile)
c.695G>T (p.Ser232Ile)
c.2106+228057C>A (n.2106+228057C>A)
c.799G>T (p.Ala267Ser)
c.1103G>T (p.Ser368Ile)
 gnomAD v4
3g.184372764C=CA1425997809EIF2B5,THPOc.1231G= (p.Ala411=)
c.811G= (p.Ala271=)
c.794G= (p.Ser265=)
c.695G= (p.Ser232=)
c.2106+228057C= (n.2106+228057C=)
c.799G= (p.Ala267=)
c.1103G= (p.Ser368=)
3g.184372764C>GCA355461601EIF2B5,THPOc.1231G>C (p.Ala411Pro)
c.811G>C (p.Ala271Pro)
c.794G>C (p.Ser265Thr)
c.695G>C (p.Ser232Thr)
c.2106+228057C>G (n.2106+228057C>G)
c.799G>C (p.Ala267Pro)
c.1103G>C (p.Ser368Thr)
3g.184372764C>TCA2734864EIF2B5,THPOc.1231G>A (p.Ala411Thr)
c.811G>A (p.Ala271Thr)
c.794G>A (p.Ser265Asn)
c.695G>A (p.Ser232Asn)
c.2106+228057C>T (n.2106+228057C>T)
c.799G>A (p.Ala267Thr)
c.1103G>A (p.Ser368Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.184372765_184372766dupCA2668832988EIF2B5,THPOc.1230_1231dup (p.Ala411GlufsTer?)
c.810_811dup (p.Ala271GlufsTer?)
c.793_794dup (p.Ser265ArgfsTer?)
c.694_695dup (p.Ser232ArgfsTer?)
c.2106+228058_2106+228059dup (n.2106+228058_2106+228059dup)
c.798_799dup (p.Ala267GlufsTer?)
c.1102_1103dup (p.Ser368ArgfsTer?)
 gnomAD v4
3g.184372765_184372766delCA2668832991EIF2B5,THPOc.1230_1231del (p.Ala411ProfsTer?)
c.810_811del (p.Ala271ProfsTer?)
c.793_794del (p.Ser265ProfsTer?)
c.694_695del (p.Ser232ProfsTer?)
c.2106+228058_2106+228059del (n.2106+228058_2106+228059del)
c.798_799del (p.Ala267ProfsTer?)
c.1102_1103del (p.Ser368ProfsTer?)
 gnomAD v4
3g.184372765T>ACA355461602EIF2B5,THPOc.1230A>T (p.Gly410=)
c.810A>T (p.Gly270=)
c.793A>T (p.Ser265Cys)
c.694A>T (p.Ser232Cys)
c.2106+228058T>A (n.2106+228058T>A)
c.798A>T (p.Gly266=)
c.1102A>T (p.Ser368Cys)
3g.184372765T>CCA355461603EIF2B5,THPOc.1230A>G (p.Gly410=)
c.810A>G (p.Gly270=)
c.793A>G (p.Ser265Gly)
c.694A>G (p.Ser232Gly)
c.2106+228058T>C (n.2106+228058T>C)
c.798A>G (p.Gly266=)
c.1102A>G (p.Ser368Gly)
3g.184372765T>GCA355461604EIF2B5,THPOc.1230A>C (p.Gly410=)
c.810A>C (p.Gly270=)
c.793A>C (p.Ser265Arg)
c.694A>C (p.Ser232Arg)
c.2106+228058T>G (n.2106+228058T>G)
c.798A>C (p.Gly266=)
c.1102A>C (p.Ser368Arg)
3g.184372766C>ACA355461605EIF2B5,THPOc.1229G>T (p.Gly410Val)
c.809G>T (p.Gly270Val)
c.792G>T (p.Arg264Ser)
c.693G>T (p.Arg231Ser)
c.2106+228059C>A (n.2106+228059C>A)
c.797G>T (p.Gly266Val)
c.1101G>T (p.Arg367Ser)
3g.184372766C>GCA355461606EIF2B5,THPOc.1229G>C (p.Gly410Ala)
c.809G>C (p.Gly270Ala)
c.792G>C (p.Arg264Ser)
c.693G>C (p.Arg231Ser)
c.2106+228059C>G (n.2106+228059C>G)
c.797G>C (p.Gly266Ala)
c.1101G>C (p.Arg367Ser)
 gnomAD v4
3g.184372766C>TCA355461607EIF2B5,THPOc.1229G>A (p.Gly410Glu)
c.809G>A (p.Gly270Glu)
c.792G>A (p.Arg264=)
c.693G>A (p.Arg231=)
c.2106+228059C>T (n.2106+228059C>T)
c.797G>A (p.Gly266Glu)
c.1101G>A (p.Arg367=)
3g.184372767C>ACA355461608EIF2B5,THPOc.1228G>T (p.Gly410Ter)
c.808G>T (p.Gly270Ter)
c.791G>T (p.Arg264Met)
c.692G>T (p.Arg231Met)
c.2106+228060C>A (n.2106+228060C>A)
c.796G>T (p.Gly266Ter)
c.1100G>T (p.Arg367Met)
3g.184372767C=CA1425997810EIF2B5,THPOc.1228G= (p.Gly410=)
c.808G= (p.Gly270=)
c.791G= (p.Arg264=)
c.692G= (p.Arg231=)
c.2106+228060C= (n.2106+228060C=)
c.796G= (p.Gly266=)
c.1100G= (p.Arg367=)
3g.184372767C>GCA355461609EIF2B5,THPOc.1228G>C (p.Gly410Arg)
c.808G>C (p.Gly270Arg)
c.791G>C (p.Arg264Thr)
c.692G>C (p.Arg231Thr)
c.2106+228060C>G (n.2106+228060C>G)
c.796G>C (p.Gly266Arg)
c.1100G>C (p.Arg367Thr)
3g.184372767C>TCA2734865EIF2B5,THPOc.1228G>A (p.Gly410Arg)
c.808G>A (p.Gly270Arg)
c.791G>A (p.Arg264Lys)
c.692G>A (p.Arg231Lys)
c.2106+228060C>T (n.2106+228060C>T)
c.796G>A (p.Gly266Arg)
c.1100G>A (p.Arg367Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.184372768T>ACA355461611EIF2B5,THPOc.1227A>T (p.Leu409=)
c.807A>T (p.Leu269=)
c.790A>T (p.Arg264Trp)
c.691A>T (p.Arg231Trp)
c.2106+228061T>A (n.2106+228061T>A)
c.795A>T (p.Leu265=)
c.1099A>T (p.Arg367Trp)
3g.184372768T>CCA355461610EIF2B5,THPOc.1227A>G (p.Leu409=)
c.807A>G (p.Leu269=)
c.790A>G (p.Arg264Gly)
c.691A>G (p.Arg231Gly)
c.2106+228061T>C (n.2106+228061T>C)
c.795A>G (p.Leu265=)
c.1099A>G (p.Arg367Gly)
3g.184372768T>GCA437332626EIF2B5,THPOc.1227A>C (p.Leu409=)
c.807A>C (p.Leu269=)
c.790A>C (p.Arg264=)
c.691A>C (p.Arg231=)
c.2106+228061T>G (n.2106+228061T>G)
c.795A>C (p.Leu265=)
c.1099A>C (p.Arg367=)
3g.184372769A=CA1425997811EIF2B5,THPOc.1226T= (p.Leu409=)
c.806T= (p.Leu269=)
c.789T= (p.Pro263=)
c.690T= (p.Pro230=)
c.2106+228062A= (n.2106+228062A=)
c.794T= (p.Leu265=)
c.1098T= (p.Pro366=)
3g.184372769A>CCA355461612EIF2B5,THPOc.1226T>G (p.Leu409Arg)
c.806T>G (p.Leu269Arg)
c.789T>G (p.Pro263=)
c.690T>G (p.Pro230=)
c.2106+228062A>C (n.2106+228062A>C)
c.794T>G (p.Leu265Arg)
c.1098T>G (p.Pro366=)
3g.184372769A>GCA355461613EIF2B5,THPOc.1226T>C (p.Leu409Pro)
c.806T>C (p.Leu269Pro)
c.789T>C (p.Pro263=)
c.690T>C (p.Pro230=)
c.2106+228062A>G (n.2106+228062A>G)
c.794T>C (p.Leu265Pro)
c.1098T>C (p.Pro366=)
 gnomAD v4
3g.184372769A>TCA355461614EIF2B5,THPOc.1226T>A (p.Leu409Gln)
c.806T>A (p.Leu269Gln)
c.789T>A (p.Pro263=)
c.690T>A (p.Pro230=)
c.2106+228062A>T (n.2106+228062A>T)
c.794T>A (p.Leu265Gln)
c.1098T>A (p.Pro366=)
3g.184372770G>ACA355461615EIF2B5,THPOc.1225C>T (p.Leu409=)
c.805C>T (p.Leu269=)
c.788C>T (p.Pro263Leu)
c.689C>T (p.Pro230Leu)
c.2106+228063G>A (n.2106+228063G>A)
c.793C>T (p.Leu265=)
c.1097C>T (p.Pro366Leu)
3g.184372770G>CCA355461616EIF2B5,THPOc.1225C>G (p.Leu409Val)
c.805C>G (p.Leu269Val)
c.788C>G (p.Pro263Arg)
c.689C>G (p.Pro230Arg)
c.2106+228063G>C (n.2106+228063G>C)
c.793C>G (p.Leu265Val)
c.1097C>G (p.Pro366Arg)
 dbSNP
3g.184372770G=CA1425997812EIF2B5,THPOc.1225C= (p.Leu409=)
c.805C= (p.Leu269=)
c.788C= (p.Pro263=)
c.689C= (p.Pro230=)
c.2106+228063G= (n.2106+228063G=)
c.793C= (p.Leu265=)
c.1097C= (p.Pro366=)
3g.184372770G>TCA355461617EIF2B5,THPOc.1225C>A (p.Leu409Ile)
c.805C>A (p.Leu269Ile)
c.788C>A (p.Pro263His)
c.689C>A (p.Pro230His)
c.2106+228063G>T (n.2106+228063G>T)
c.793C>A (p.Leu265Ile)
c.1097C>A (p.Pro366His)
3g.184372772dupCA915942963EIF2B5,THPOc.1225dup (p.Leu409ProfsTer?)
c.805dup (p.Leu269ProfsTer?)
c.788dup (p.Arg264Ter)
c.689dup (p.Arg231Ter)
c.2106+228065dup (n.2106+228065dup)
c.793dup (p.Leu265ProfsTer?)
c.1097dup (p.Arg367Ter)
 ClinVar dbSNP gnomAD v4
3g.184372771G>ACA355461618EIF2B5,THPOc.1224C>T (p.Thr408=)
c.804C>T (p.Thr268=)
c.787C>T (p.Pro263Ser)
c.688C>T (p.Pro230Ser)
c.2106+228064G>A (n.2106+228064G>A)
c.792C>T (p.Thr264=)
c.1096C>T (p.Pro366Ser)
3g.184372771G>CCA2734867EIF2B5,THPOc.1224C>G (p.Thr408=)
c.804C>G (p.Thr268=)
c.787C>G (p.Pro263Ala)
c.688C>G (p.Pro230Ala)
c.2106+228064G>C (n.2106+228064G>C)
c.792C>G (p.Thr264=)
c.1096C>G (p.Pro366Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.184372771G=CA1425997813EIF2B5,THPOc.1224C= (p.Thr408=)
c.804C= (p.Thr268=)
c.787C= (p.Pro263=)
c.688C= (p.Pro230=)
c.2106+228064G= (n.2106+228064G=)
c.792C= (p.Thr264=)
c.1096C= (p.Pro366=)
3g.184372771G>TCA2734866EIF2B5,THPOc.1224C>A (p.Thr408=)
c.804C>A (p.Thr268=)
c.787C>A (p.Pro263Thr)
c.688C>A (p.Pro230Thr)
c.2106+228064G>T (n.2106+228064G>T)
c.792C>A (p.Thr264=)
c.1096C>A (p.Pro366Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.184372772G>ACA355461619EIF2B5,THPOc.1223C>T (p.Thr408Ile)
c.803C>T (p.Thr268Ile)
c.786C>T (p.Asp262=)
c.687C>T (p.Asp229=)
c.2106+228065G>A (n.2106+228065G>A)
c.791C>T (p.Thr264Ile)
c.1095C>T (p.Asp365=)
 COSMIC
3g.184372772G>CCA355461620EIF2B5,THPOc.1223C>G (p.Thr408Ser)
c.803C>G (p.Thr268Ser)
c.786C>G (p.Asp262Glu)
c.687C>G (p.Asp229Glu)
c.2106+228065G>C (n.2106+228065G>C)
c.791C>G (p.Thr264Ser)
c.1095C>G (p.Asp365Glu)
3g.184372772G>TCA355461621EIF2B5,THPOc.1223C>A (p.Thr408Asn)
c.803C>A (p.Thr268Asn)
c.786C>A (p.Asp262Glu)
c.687C>A (p.Asp229Glu)
c.2106+228065G>T (n.2106+228065G>T)
c.791C>A (p.Thr264Asn)
c.1095C>A (p.Asp365Glu)
3g.184372773T>ACA355461624EIF2B5,THPOc.1222A>T (p.Thr408Ser)
c.802A>T (p.Thr268Ser)
c.785A>T (p.Asp262Val)
c.686A>T (p.Asp229Val)
c.2106+228066T>A (n.2106+228066T>A)
c.790A>T (p.Thr264Ser)
c.1094A>T (p.Asp365Val)
3g.184372773T>CCA355461623EIF2B5,THPOc.1222A>G (p.Thr408Ala)
c.802A>G (p.Thr268Ala)
c.785A>G (p.Asp262Gly)
c.686A>G (p.Asp229Gly)
c.2106+228066T>C (n.2106+228066T>C)
c.790A>G (p.Thr264Ala)
c.1094A>G (p.Asp365Gly)
3g.184372773T>GCA355461622EIF2B5,THPOc.1222A>C (p.Thr408Pro)
c.802A>C (p.Thr268Pro)
c.785A>C (p.Asp262Ala)
c.686A>C (p.Asp229Ala)
c.2106+228066T>G (n.2106+228066T>G)
c.790A>C (p.Thr264Pro)
c.1094A>C (p.Asp365Ala)
3g.184372774C>ACA355461625EIF2B5,THPOc.1221G>T (p.Arg407Ser)
c.801G>T (p.Arg267Ser)
c.784G>T (p.Asp262Tyr)
c.685G>T (p.Asp229Tyr)
c.2106+228067C>A (n.2106+228067C>A)
c.789G>T (p.Arg263Ser)
c.1093G>T (p.Asp365Tyr)
3g.184372774C>GCA355461627EIF2B5,THPOc.1221G>C (p.Arg407Ser)
c.801G>C (p.Arg267Ser)
c.784G>C (p.Asp262His)
c.685G>C (p.Asp229His)
c.2106+228067C>G (n.2106+228067C>G)
c.789G>C (p.Arg263Ser)
c.1093G>C (p.Asp365His)
3g.184372774C>TCA355461626EIF2B5,THPOc.1221G>A (p.Arg407=)
c.801G>A (p.Arg267=)
c.784G>A (p.Asp262Asn)
c.685G>A (p.Asp229Asn)
c.2106+228067C>T (n.2106+228067C>T)
c.789G>A (p.Arg263=)
c.1093G>A (p.Asp365Asn)
3g.184372775C>ACA355461628EIF2B5,THPOc.1220G>T (p.Arg407Met)
c.800G>T (p.Arg267Met)
c.783G>T (p.Gln261His)
c.684G>T (p.Gln228His)
c.2106+228068C>A (n.2106+228068C>A)
c.788G>T (p.Arg263Met)
c.1092G>T (p.Gln364His)
3g.184372775C>GCA355461630EIF2B5,THPOc.1220G>C (p.Arg407Thr)
c.800G>C (p.Arg267Thr)
c.783G>C (p.Gln261His)
c.684G>C (p.Gln228His)
c.2106+228068C>G (n.2106+228068C>G)
c.788G>C (p.Arg263Thr)
c.1092G>C (p.Gln364His)
3g.184372775C>TCA355461629EIF2B5,THPOc.1220G>A (p.Arg407Lys)
c.800G>A (p.Arg267Lys)
c.783G>A (p.Gln261=)
c.684G>A (p.Gln228=)
c.2106+228068C>T (n.2106+228068C>T)
c.788G>A (p.Arg263Lys)
c.1092G>A (p.Gln364=)
3g.184372776T>ACA355461631EIF2B5,THPOc.1219A>T (p.Arg407Trp)
c.799A>T (p.Arg267Trp)
c.782A>T (p.Gln261Leu)
c.683A>T (p.Gln228Leu)
c.2106+228069T>A (n.2106+228069T>A)
c.787A>T (p.Arg263Trp)
c.1091A>T (p.Gln364Leu)
3g.184372776T>CCA355461633EIF2B5,THPOc.1219A>G (p.Arg407Gly)
c.799A>G (p.Arg267Gly)
c.782A>G (p.Gln261Arg)
c.683A>G (p.Gln228Arg)
c.2106+228069T>C (n.2106+228069T>C)
c.787A>G (p.Arg263Gly)
c.1091A>G (p.Gln364Arg)
3g.184372776T>GCA355461632EIF2B5,THPOc.1219A>C (p.Arg407=)
c.799A>C (p.Arg267=)
c.782A>C (p.Gln261Pro)
c.683A>C (p.Gln228Pro)
c.2106+228069T>G (n.2106+228069T>G)
c.787A>C (p.Arg263=)
c.1091A>C (p.Gln364Pro)
3g.184372777G>ACA355461634EIF2B5,THPOc.1218C>T (p.Arg406=)
c.798C>T (p.Arg266=)
c.781C>T (p.Gln261Ter)
c.682C>T (p.Gln228Ter)
c.2106+228070G>A (n.2106+228070G>A)
c.786C>T (p.Arg262=)
c.1090C>T (p.Gln364Ter)
3g.184372777G>CCA355461635EIF2B5,THPOc.1218C>G (p.Arg406=)
c.798C>G (p.Arg266=)
c.781C>G (p.Gln261Glu)
c.682C>G (p.Gln228Glu)
c.2106+228070G>C (n.2106+228070G>C)
c.786C>G (p.Arg262=)
c.1090C>G (p.Gln364Glu)
3g.184372777G>TCA355461636EIF2B5,THPOc.1218C>A (p.Arg406=)
c.798C>A (p.Arg266=)
c.781C>A (p.Gln261Lys)
c.682C>A (p.Gln228Lys)
c.2106+228070G>T (n.2106+228070G>T)
c.786C>A (p.Arg262=)
c.1090C>A (p.Gln364Lys)
3g.184372778C>ACA355461637EIF2B5,THPOc.1217G>T (p.Arg406Leu)
c.797G>T (p.Arg266Leu)
c.780G>T (p.Thr260=)
c.681G>T (p.Thr227=)
c.2106+228071C>A (n.2106+228071C>A)
c.785G>T (p.Arg262Leu)
c.1089G>T (p.Thr363=)
3g.184372778C=CA1425997814EIF2B5,THPOc.1217G= (p.Arg406=)
c.797G= (p.Arg266=)
c.780G= (p.Thr260=)
c.681G= (p.Thr227=)
c.2106+228071C= (n.2106+228071C=)
c.785G= (p.Arg262=)
c.1089G= (p.Thr363=)
3g.184372778C>GCA355461638EIF2B5,THPOc.1217G>C (p.Arg406Pro)
c.797G>C (p.Arg266Pro)
c.780G>C (p.Thr260=)
c.681G>C (p.Thr227=)
c.2106+228071C>G (n.2106+228071C>G)
c.785G>C (p.Arg262Pro)
c.1089G>C (p.Thr363=)
3g.184372778C>TCA2734868EIF2B5,THPOc.1217G>A (p.Arg406His)
c.797G>A (p.Arg266His)
c.780G>A (p.Thr260=)
c.681G>A (p.Thr227=)
c.2106+228071C>T (n.2106+228071C>T)
c.785G>A (p.Arg262His)
c.1089G>A (p.Thr363=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
3g.184372779G>ACA2734869EIF2B5,THPOc.1216C>T (p.Arg406Cys)
c.796C>T (p.Arg266Cys)
c.779C>T (p.Thr260Met)
c.680C>T (p.Thr227Met)
c.2106+228072G>A (n.2106+228072G>A)
c.784C>T (p.Arg262Cys)
c.1088C>T (p.Thr363Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.184372779G>CCA355461639EIF2B5,THPOc.1216C>G (p.Arg406Gly)
c.796C>G (p.Arg266Gly)
c.779C>G (p.Thr260Arg)
c.680C>G (p.Thr227Arg)
c.2106+228072G>C (n.2106+228072G>C)
c.784C>G (p.Arg262Gly)
c.1088C>G (p.Thr363Arg)
 dbSNP gnomAD v3 gnomAD v4
3g.184372779G=CA1425997815EIF2B5,THPOc.1216C= (p.Arg406=)
c.796C= (p.Arg266=)
c.779C= (p.Thr260=)
c.680C= (p.Thr227=)
c.2106+228072G= (n.2106+228072G=)
c.784C= (p.Arg262=)
c.1088C= (p.Thr363=)
3g.184372779G>TCA355461640EIF2B5,THPOc.1216C>A (p.Arg406Ser)
c.796C>A (p.Arg266Ser)
c.779C>A (p.Thr260Lys)
c.680C>A (p.Thr227Lys)
c.2106+228072G>T (n.2106+228072G>T)
c.784C>A (p.Arg262Ser)
c.1088C>A (p.Thr363Lys)
 dbSNP gnomAD v2
3g.184372780T>ACA355461643EIF2B5,THPOc.1215A>T (p.Ser405=)
c.795A>T (p.Ser265=)
c.778A>T (p.Thr260Ser)
c.679A>T (p.Thr227Ser)
c.2106+228073T>A (n.2106+228073T>A)
c.783A>T (p.Ser261=)
c.1087A>T (p.Thr363Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.184372780T>CCA355461642EIF2B5,THPOc.1215A>G (p.Ser405=)
c.795A>G (p.Ser265=)
c.778A>G (p.Thr260Ala)
c.679A>G (p.Thr227Ala)
c.2106+228073T>C (n.2106+228073T>C)
c.783A>G (p.Ser261=)
c.1087A>G (p.Thr363Ala)
 dbSNP
3g.184372780T>GCA355461641EIF2B5,THPOc.1215A>C (p.Ser405=)
c.795A>C (p.Ser265=)
c.778A>C (p.Thr260Pro)
c.679A>C (p.Thr227Pro)
c.2106+228073T>G (n.2106+228073T>G)
c.783A>C (p.Ser261=)
c.1087A>C (p.Thr363Pro)
3g.184372780T=CA1425997817EIF2B5,THPOc.1215A= (p.Ser405=)
c.795A= (p.Ser265=)
c.778A= (p.Thr260=)
c.679A= (p.Thr227=)
c.2106+228073T= (n.2106+228073T=)
c.783A= (p.Ser261=)
c.1087A= (p.Thr363=)
3g.184372780_184372784delinsTGAGGCA1425997816EIF2B5,THPOc.1211_1215delinsCCTCA (p.Pro404=)
c.791_795delinsCCTCA (p.Pro264=)
c.774_778delinsCCTCA (p.Thr258=)
c.675_679delinsCCTCA (p.Thr225=)
c.2106+228073_2106+228077delinsTGAGG (n.2106+228073_2106+228077delinsTGAGG)
c.779_783delinsCCTCA (p.Pro260=)
c.1083_1087delinsCCTCA (p.Thr361=)
3g.184372781G>ACA355461644EIF2B5,THPOc.1214C>T (p.Ser405Leu)
c.794C>T (p.Ser265Leu)
c.777C>T (p.Leu259=)
c.678C>T (p.Leu226=)
c.2106+228074G>A (n.2106+228074G>A)
c.782C>T (p.Ser261Leu)
c.1086C>T (p.Leu362=)
 COSMIC
3g.184372781G>CCA355461645EIF2B5,THPOc.1214C>G (p.Ser405Ter)
c.794C>G (p.Ser265Ter)
c.777C>G (p.Leu259=)
c.678C>G (p.Leu226=)
c.2106+228074G>C (n.2106+228074G>C)
c.782C>G (p.Ser261Ter)
c.1086C>G (p.Leu362=)
3g.184372781G>TCA355461646EIF2B5,THPOc.1214C>A (p.Ser405Ter)
c.794C>A (p.Ser265Ter)
c.777C>A (p.Leu259=)
c.678C>A (p.Leu226=)
c.2106+228074G>T (n.2106+228074G>T)
c.782C>A (p.Ser261Ter)
c.1086C>A (p.Leu362=)
3g.184372782_184372785delCA2734870EIF2B5,THPOc.1211_1214del (p.Pro404HisfsTer5)
c.791_794del (p.Pro264HisfsTer5)
c.774_777del (p.Leu259ArgfsTer?)
c.675_678del (p.Leu226ArgfsTer?)
c.2106+228075_2106+228078del (n.2106+228075_2106+228078del)
c.779_782del (p.Pro260HisfsTer5)
c.1083_1086del (p.Leu362ArgfsTer?)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.184372782A>CCA355461647EIF2B5,THPOc.1213T>G (p.Ser405Ala)
c.793T>G (p.Ser265Ala)
c.776T>G (p.Leu259Arg)
c.677T>G (p.Leu226Arg)
c.2106+228075A>C (n.2106+228075A>C)
c.781T>G (p.Ser261Ala)
c.1085T>G (p.Leu362Arg)
3g.184372782A>GCA355461648EIF2B5,THPOc.1213T>C (p.Ser405Pro)
c.793T>C (p.Ser265Pro)
c.776T>C (p.Leu259Pro)
c.677T>C (p.Leu226Pro)
c.2106+228075A>G (n.2106+228075A>G)
c.781T>C (p.Ser261Pro)
c.1085T>C (p.Leu362Pro)
3g.184372782A>TCA355461649EIF2B5,THPOc.1213T>A (p.Ser405Thr)
c.793T>A (p.Ser265Thr)
c.776T>A (p.Leu259His)
c.677T>A (p.Leu226His)
c.2106+228075A>T (n.2106+228075A>T)
c.781T>A (p.Ser261Thr)
c.1085T>A (p.Leu362His)
3g.184372782_184372783delinsAGCA1425997818EIF2B5,THPOc.1212_1213delinsCT (p.Pro404=)
c.792_793delinsCT (p.Pro264=)
c.775_776delinsCT (p.Leu259=)
c.676_677delinsCT (p.Leu226=)
c.2106+228075_2106+228076delinsAG (n.2106+228075_2106+228076delinsAG)
c.780_781delinsCT (p.Pro260=)
c.1084_1085delinsCT (p.Leu362=)
3g.184372783G>ACA355461650EIF2B5,THPOc.1212C>T (p.Pro404=)
c.792C>T (p.Pro264=)
c.775C>T (p.Leu259Phe)
c.676C>T (p.Leu226Phe)
c.2106+228076G>A (n.2106+228076G>A)
c.780C>T (p.Pro260=)
c.1084C>T (p.Leu362Phe)
3g.184372783G>CCA355461651EIF2B5,THPOc.1212C>G (p.Pro404=)
c.792C>G (p.Pro264=)
c.775C>G (p.Leu259Val)
c.676C>G (p.Leu226Val)
c.2106+228076G>C (n.2106+228076G>C)
c.780C>G (p.Pro260=)
c.1084C>G (p.Leu362Val)
3g.184372783G>TCA355461652EIF2B5,THPOc.1212C>A (p.Pro404=)
c.792C>A (p.Pro264=)
c.775C>A (p.Leu259Ile)
c.676C>A (p.Leu226Ile)
c.2106+228076G>T (n.2106+228076G>T)
c.780C>A (p.Pro260=)
c.1084C>A (p.Leu362Ile)
3g.184372785delCA548795850EIF2B5,THPOc.1212del (p.Ser405HisfsTer5)
c.792del (p.Ser265HisfsTer5)
c.775del (p.Leu259SerfsTer?)
c.676del (p.Leu226SerfsTer?)
c.2106+228078del (n.2106+228078del)
c.780del (p.Ser261HisfsTer5)
c.1084del (p.Leu362SerfsTer?)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.184372784G>ACA355461654EIF2B5,THPOc.1211C>T (p.Pro404Leu)
c.791C>T (p.Pro264Leu)
c.774C>T (p.Thr258=)
c.675C>T (p.Thr225=)
c.2106+228077G>A (n.2106+228077G>A)
c.779C>T (p.Pro260Leu)
c.1083C>T (p.Thr361=)
 dbSNP COSMIC
3g.184372784G>CCA355461655EIF2B5,THPOc.1211C>G (p.Pro404Arg)
c.791C>G (p.Pro264Arg)
c.774C>G (p.Thr258=)
c.675C>G (p.Thr225=)
c.2106+228077G>C (n.2106+228077G>C)
c.779C>G (p.Pro260Arg)
c.1083C>G (p.Thr361=)
3g.184372784G=CA1425997819EIF2B5,THPOc.1211C= (p.Pro404=)
c.791C= (p.Pro264=)
c.774C= (p.Thr258=)
c.675C= (p.Thr225=)
c.2106+228077G= (n.2106+228077G=)
c.779C= (p.Pro260=)
c.1083C= (p.Thr361=)
3g.184372784G>TCA355461653EIF2B5,THPOc.1211C>A (p.Pro404His)
c.791C>A (p.Pro264His)
c.774C>A (p.Thr258=)
c.675C>A (p.Thr225=)
c.2106+228077G>T (n.2106+228077G>T)
c.779C>A (p.Pro260His)
c.1083C>A (p.Thr361=)
3g.184372785G>ACA355461656EIF2B5,THPOc.1210C>T (p.Pro404Ser)
c.790C>T (p.Pro264Ser)
c.773C>T (p.Thr258Ile)
c.674C>T (p.Thr225Ile)
c.2106+228078G>A (n.2106+228078G>A)
c.778C>T (p.Pro260Ser)
c.1082C>T (p.Thr361Ile)
3g.184372785G>CCA355461657EIF2B5,THPOc.1210C>G (p.Pro404Ala)
c.790C>G (p.Pro264Ala)
c.773C>G (p.Thr258Ser)
c.674C>G (p.Thr225Ser)
c.2106+228078G>C (n.2106+228078G>C)
c.778C>G (p.Pro260Ala)
c.1082C>G (p.Thr361Ser)
3g.184372785G>TCA355461658EIF2B5,THPOc.1210C>A (p.Pro404Thr)
c.790C>A (p.Pro264Thr)
c.773C>A (p.Thr258Asn)
c.674C>A (p.Thr225Asn)
c.2106+228078G>T (n.2106+228078G>T)
c.778C>A (p.Pro260Thr)
c.1082C>A (p.Thr361Asn)
3g.184372786T>ACA355461659EIF2B5,THPOc.1209A>T (p.Gly403=)
c.789A>T (p.Gly263=)
c.772A>T (p.Thr258Ser)
c.673A>T (p.Thr225Ser)
c.2106+228079T>A (n.2106+228079T>A)
c.777A>T (p.Gly259=)
c.1081A>T (p.Thr361Ser)
 COSMIC
3g.184372786T>CCA355461660EIF2B5,THPOc.1209A>G (p.Gly403=)
c.789A>G (p.Gly263=)
c.772A>G (p.Thr258Ala)
c.673A>G (p.Thr225Ala)
c.2106+228079T>C (n.2106+228079T>C)
c.777A>G (p.Gly259=)
c.1081A>G (p.Thr361Ala)
 gnomAD v4
3g.184372786T>GCA355461661EIF2B5,THPOc.1209A>C (p.Gly403=)
c.789A>C (p.Gly263=)
c.772A>C (p.Thr258Pro)
c.673A>C (p.Thr225Pro)
c.2106+228079T>G (n.2106+228079T>G)
c.777A>C (p.Gly259=)
c.1081A>C (p.Thr361Pro)
3g.184372787C>ACA355461662EIF2B5,THPOc.1208G>T (p.Gly403Val)
c.788G>T (p.Gly263Val)
c.771G>T (p.Trp257Cys)
c.672G>T (p.Trp224Cys)
c.2106+228080C>A (n.2106+228080C>A)
c.776G>T (p.Gly259Val)
c.1080G>T (p.Trp360Cys)
3g.184372787C=CA1425997820EIF2B5,THPOc.1208G= (p.Gly403=)
c.788G= (p.Gly263=)
c.771G= (p.Trp257=)
c.672G= (p.Trp224=)
c.2106+228080C= (n.2106+228080C=)
c.776G= (p.Gly259=)
c.1080G= (p.Trp360=)
3g.184372787C>GCA355461663EIF2B5,THPOc.1208G>C (p.Gly403Ala)
c.788G>C (p.Gly263Ala)
c.771G>C (p.Trp257Cys)
c.672G>C (p.Trp224Cys)
c.2106+228080C>G (n.2106+228080C>G)
c.776G>C (p.Gly259Ala)
c.1080G>C (p.Trp360Cys)
3g.184372787C>TCA355461664EIF2B5,THPOc.1208G>A (p.Gly403Glu)
c.788G>A (p.Gly263Glu)
c.771G>A (p.Trp257Ter)
c.672G>A (p.Trp224Ter)
c.2106+228080C>T (n.2106+228080C>T)
c.776G>A (p.Gly259Glu)
c.1080G>A (p.Trp360Ter)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.184372788C>ACA355461665EIF2B5,THPOc.1207G>T (p.Gly403Ter)
c.787G>T (p.Gly263Ter)
c.770G>T (p.Trp257Leu)
c.671G>T (p.Trp224Leu)
c.2106+228081C>A (n.2106+228081C>A)
c.775G>T (p.Gly259Ter)
c.1079G>T (p.Trp360Leu)
3g.184372788C>GCA355461666EIF2B5,THPOc.1207G>C (p.Gly403Arg)
c.787G>C (p.Gly263Arg)
c.770G>C (p.Trp257Ser)
c.671G>C (p.Trp224Ser)
c.2106+228081C>G (n.2106+228081C>G)
c.775G>C (p.Gly259Arg)
c.1079G>C (p.Trp360Ser)
3g.184372788C>TCA355461667EIF2B5,THPOc.1207G>A (p.Gly403Arg)
c.787G>A (p.Gly263Arg)
c.770G>A (p.Trp257Ter)
c.671G>A (p.Trp224Ter)
c.2106+228081C>T (n.2106+228081C>T)
c.775G>A (p.Gly259Arg)
c.1079G>A (p.Trp360Ter)
3g.184372789A=CA1425997821EIF2B5,THPOc.1206T= (p.Pro402=)
c.786T= (p.Pro262=)
c.769T= (p.Trp257=)
c.670T= (p.Trp224=)
c.2106+228082A= (n.2106+228082A=)
c.774T= (p.Pro258=)
c.1078T= (p.Trp360=)
3g.184372789A>CCA355461669EIF2B5,THPOc.1206T>G (p.Pro402=)
c.786T>G (p.Pro262=)
c.769T>G (p.Trp257Gly)
c.670T>G (p.Trp224Gly)
c.2106+228082A>C (n.2106+228082A>C)
c.774T>G (p.Pro258=)
c.1078T>G (p.Trp360Gly)
3g.184372789A>GCA2734871EIF2B5,THPOc.1206T>C (p.Pro402=)
c.786T>C (p.Pro262=)
c.769T>C (p.Trp257Arg)
c.670T>C (p.Trp224Arg)
c.2106+228082A>G (n.2106+228082A>G)
c.774T>C (p.Pro258=)
c.1078T>C (p.Trp360Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.184372789A>TCA355461668EIF2B5,THPOc.1206T>A (p.Pro402=)
c.786T>A (p.Pro262=)
c.769T>A (p.Trp257Arg)
c.670T>A (p.Trp224Arg)
c.2106+228082A>T (n.2106+228082A>T)
c.774T>A (p.Pro258=)
c.1078T>A (p.Trp360Arg)
 gnomAD v4
3g.184372790G>ACA355461670EIF2B5,THPOc.1205C>T (p.Pro402Leu)
c.785C>T (p.Pro262Leu)
c.768C>T (p.Ser256=)
c.669C>T (p.Ser223=)
c.2106+228083G>A (n.2106+228083G>A)
c.773C>T (p.Pro258Leu)
c.1077C>T (p.Ser359=)
3g.184372790G>CCA355461671EIF2B5,THPOc.1205C>G (p.Pro402Arg)
c.785C>G (p.Pro262Arg)
c.768C>G (p.Ser256=)
c.669C>G (p.Ser223=)
c.2106+228083G>C (n.2106+228083G>C)
c.773C>G (p.Pro258Arg)
c.1077C>G (p.Ser359=)
 dbSNP gnomAD v2 gnomAD v4
3g.184372790G=CA1425997822EIF2B5,THPOc.1205C= (p.Pro402=)
c.785C= (p.Pro262=)
c.768C= (p.Ser256=)
c.669C= (p.Ser223=)
c.2106+228083G= (n.2106+228083G=)
c.773C= (p.Pro258=)
c.1077C= (p.Ser359=)
3g.184372790G>TCA355461672EIF2B5,THPOc.1205C>A (p.Pro402His)
c.785C>A (p.Pro262His)
c.768C>A (p.Ser256=)
c.669C>A (p.Ser223=)
c.2106+228083G>T (n.2106+228083G>T)
c.773C>A (p.Pro258His)
c.1077C>A (p.Ser359=)
 gnomAD v4
3g.184372791G>ACA355461673EIF2B5,THPOc.1204C>T (p.Pro402Ser)
c.784C>T (p.Pro262Ser)
c.767C>T (p.Ser256Phe)
c.668C>T (p.Ser223Phe)
c.2106+228084G>A (n.2106+228084G>A)
c.772C>T (p.Pro258Ser)
c.1076C>T (p.Ser359Phe)
 gnomAD v4
3g.184372791G>CCA355461674EIF2B5,THPOc.1204C>G (p.Pro402Ala)
c.784C>G (p.Pro262Ala)
c.767C>G (p.Ser256Cys)
c.668C>G (p.Ser223Cys)
c.2106+228084G>C (n.2106+228084G>C)
c.772C>G (p.Pro258Ala)
c.1076C>G (p.Ser359Cys)
3g.184372791G>TCA355461675EIF2B5,THPOc.1204C>A (p.Pro402Thr)
c.784C>A (p.Pro262Thr)
c.767C>A (p.Ser256Tyr)
c.668C>A (p.Ser223Tyr)
c.2106+228084G>T (n.2106+228084G>T)
c.772C>A (p.Pro258Thr)
c.1076C>A (p.Ser359Tyr)
3g.184372792A>CCA355461676EIF2B5,THPOc.1203T>G (p.Phe401Leu)
c.783T>G (p.Phe261Leu)
c.766T>G (p.Ser256Ala)
c.667T>G (p.Ser223Ala)
c.2106+228085A>C (n.2106+228085A>C)
c.771T>G (p.Phe257Leu)
c.1075T>G (p.Ser359Ala)
3g.184372792A>GCA355461677EIF2B5,THPOc.1203T>C (p.Phe401=)
c.783T>C (p.Phe261=)
c.766T>C (p.Ser256Pro)
c.667T>C (p.Ser223Pro)
c.2106+228085A>G (n.2106+228085A>G)
c.771T>C (p.Phe257=)
c.1075T>C (p.Ser359Pro)
 gnomAD v4
3g.184372792A>TCA355461678EIF2B5,THPOc.1203T>A (p.Phe401Leu)
c.783T>A (p.Phe261Leu)
c.766T>A (p.Ser256Thr)
c.667T>A (p.Ser223Thr)
c.2106+228085A>T (n.2106+228085A>T)
c.771T>A (p.Phe257Leu)
c.1075T>A (p.Ser359Thr)
3g.184372793A>CCA355461679EIF2B5,THPOc.1202T>G (p.Phe401Cys)
c.782T>G (p.Phe261Cys)
c.765T>G (p.Leu255=)
c.666T>G (p.Leu222=)
c.2106+228086A>C (n.2106+228086A>C)
c.770T>G (p.Phe257Cys)
c.1074T>G (p.Leu358=)
3g.184372793A>GCA355461680EIF2B5,THPOc.1202T>C (p.Phe401Ser)
c.782T>C (p.Phe261Ser)
c.765T>C (p.Leu255=)
c.666T>C (p.Leu222=)
c.2106+228086A>G (n.2106+228086A>G)
c.770T>C (p.Phe257Ser)
c.1074T>C (p.Leu358=)
3g.184372793A>TCA355461681EIF2B5,THPOc.1202T>A (p.Phe401Tyr)
c.782T>A (p.Phe261Tyr)
c.765T>A (p.Leu255=)
c.666T>A (p.Leu222=)
c.2106+228086A>T (n.2106+228086A>T)
c.770T>A (p.Phe257Tyr)
c.1074T>A (p.Leu358=)
3g.184372794A>CCA355461683EIF2B5,THPOc.1201T>G (p.Phe401Val)
c.781T>G (p.Phe261Val)
c.764T>G (p.Leu255Arg)
c.665T>G (p.Leu222Arg)
c.2106+228087A>C (n.2106+228087A>C)
c.769T>G (p.Phe257Val)
c.1073T>G (p.Leu358Arg)
3g.184372794A>GCA355461684EIF2B5,THPOc.1201T>C (p.Phe401Leu)
c.781T>C (p.Phe261Leu)
c.764T>C (p.Leu255Pro)
c.665T>C (p.Leu222Pro)
c.2106+228087A>G (n.2106+228087A>G)
c.769T>C (p.Phe257Leu)
c.1073T>C (p.Leu358Pro)
3g.184372794A>TCA355461682EIF2B5,THPOc.1201T>A (p.Phe401Ile)
c.781T>A (p.Phe261Ile)
c.764T>A (p.Leu255His)
c.665T>A (p.Leu222His)
c.2106+228087A>T (n.2106+228087A>T)
c.769T>A (p.Phe257Ile)
c.1073T>A (p.Leu358His)
3g.184372795G>ACA355461687EIF2B5,THPOc.1200C>T (p.Leu400=)
c.780C>T (p.Leu260=)
c.763C>T (p.Leu255Phe)
c.664C>T (p.Leu222Phe)
c.2106+228088G>A (n.2106+228088G>A)
c.768C>T (p.Leu256=)
c.1072C>T (p.Leu358Phe)
3g.184372795G>CCA355461685EIF2B5,THPOc.1200C>G (p.Leu400=)
c.780C>G (p.Leu260=)
c.763C>G (p.Leu255Val)
c.664C>G (p.Leu222Val)
c.2106+228088G>C (n.2106+228088G>C)
c.768C>G (p.Leu256=)
c.1072C>G (p.Leu358Val)
3g.184372795G>TCA355461686EIF2B5,THPOc.1200C>A (p.Leu400=)
c.780C>A (p.Leu260=)
c.763C>A (p.Leu255Ile)
c.664C>A (p.Leu222Ile)
c.2106+228088G>T (n.2106+228088G>T)
c.768C>A (p.Leu256=)
c.1072C>A (p.Leu358Ile)
3g.184372796A>CCA355461688EIF2B5,THPOc.1199T>G (p.Leu400Arg)
c.779T>G (p.Leu260Arg)
c.762T>G (p.Thr254=)
c.663T>G (p.Thr221=)
c.2106+228089A>C (n.2106+228089A>C)
c.767T>G (p.Leu256Arg)
c.1071T>G (p.Thr357=)
3g.184372796A>GCA355461689EIF2B5,THPOc.1199T>C (p.Leu400Pro)
c.779T>C (p.Leu260Pro)
c.762T>C (p.Thr254=)
c.663T>C (p.Thr221=)
c.2106+228089A>G (n.2106+228089A>G)
c.767T>C (p.Leu256Pro)
c.1071T>C (p.Thr357=)
3g.184372796A>TCA355461690EIF2B5,THPOc.1199T>A (p.Leu400His)
c.779T>A (p.Leu260His)
c.762T>A (p.Thr254=)
c.663T>A (p.Thr221=)
c.2106+228089A>T (n.2106+228089A>T)
c.767T>A (p.Leu256His)
c.1071T>A (p.Thr357=)
3g.184372797G>ACA355461691EIF2B5,THPOc.1198C>T (p.Leu400Phe)
c.778C>T (p.Leu260Phe)
c.761C>T (p.Thr254Ile)
c.662C>T (p.Thr221Ile)
c.2106+228090G>A (n.2106+228090G>A)
c.766C>T (p.Leu256Phe)
c.1070C>T (p.Thr357Ile)
3g.184372797G>CCA355461692EIF2B5,THPOc.1198C>G (p.Leu400Val)
c.778C>G (p.Leu260Val)
c.761C>G (p.Thr254Ser)
c.662C>G (p.Thr221Ser)
c.2106+228090G>C (n.2106+228090G>C)
c.766C>G (p.Leu256Val)
c.1070C>G (p.Thr357Ser)
 gnomAD v4
3g.184372797G>TCA355461693EIF2B5,THPOc.1198C>A (p.Leu400Ile)
c.778C>A (p.Leu260Ile)
c.761C>A (p.Thr254Asn)
c.662C>A (p.Thr221Asn)
c.2106+228090G>T (n.2106+228090G>T)
c.766C>A (p.Leu256Ile)
c.1070C>A (p.Thr357Asn)
3g.184372798T>ACA355461694EIF2B5,THPOc.1197A>T (p.Gly399=)
c.777A>T (p.Gly259=)
c.760A>T (p.Thr254Ser)
c.661A>T (p.Thr221Ser)
c.2106+228091T>A (n.2106+228091T>A)
c.765A>T (p.Gly255=)
c.1069A>T (p.Thr357Ser)
3g.184372798T>CCA355461695EIF2B5,THPOc.1197A>G (p.Gly399=)
c.777A>G (p.Gly259=)
c.760A>G (p.Thr254Ala)
c.661A>G (p.Thr221Ala)
c.2106+228091T>C (n.2106+228091T>C)
c.765A>G (p.Gly255=)
c.1069A>G (p.Thr357Ala)
3g.184372798T>GCA355461696EIF2B5,THPOc.1197A>C (p.Gly399=)
c.777A>C (p.Gly259=)
c.760A>C (p.Thr254Pro)
c.661A>C (p.Thr221Pro)
c.2106+228091T>G (n.2106+228091T>G)
c.765A>C (p.Gly255=)
c.1069A>C (p.Thr357Pro)
3g.184372799C>ACA355461699EIF2B5,THPOc.1196G>T (p.Gly399Val)
c.776G>T (p.Gly259Val)
c.759G>T (p.Trp253Cys)
c.660G>T (p.Trp220Cys)
c.2106+228092C>A (n.2106+228092C>A)
c.764G>T (p.Gly255Val)
c.1068G>T (p.Trp356Cys)
3g.184372799C>GCA355461698EIF2B5,THPOc.1196G>C (p.Gly399Ala)
c.776G>C (p.Gly259Ala)
c.759G>C (p.Trp253Cys)
c.660G>C (p.Trp220Cys)
c.2106+228092C>G (n.2106+228092C>G)
c.764G>C (p.Gly255Ala)
c.1068G>C (p.Trp356Cys)
3g.184372799C>TCA355461697EIF2B5,THPOc.1196G>A (p.Gly399Glu)
c.776G>A (p.Gly259Glu)
c.759G>A (p.Trp253Ter)
c.660G>A (p.Trp220Ter)
c.2106+228092C>T (n.2106+228092C>T)
c.764G>A (p.Gly255Glu)
c.1068G>A (p.Trp356Ter)
 COSMIC
3g.184372800C>ACA355461700EIF2B5,THPOc.1195G>T (p.Gly399Ter)
c.775G>T (p.Gly259Ter)
c.758G>T (p.Trp253Leu)
c.659G>T (p.Trp220Leu)
c.2106+228093C>A (n.2106+228093C>A)
c.763G>T (p.Gly255Ter)
c.1067G>T (p.Trp356Leu)
3g.184372800C>GCA355461701EIF2B5,THPOc.1195G>C (p.Gly399Arg)
c.775G>C (p.Gly259Arg)
c.758G>C (p.Trp253Ser)
c.659G>C (p.Trp220Ser)
c.2106+228093C>G (n.2106+228093C>G)
c.763G>C (p.Gly255Arg)
c.1067G>C (p.Trp356Ser)
3g.184372800C>TCA355461702EIF2B5,THPOc.1195G>A (p.Gly399Arg)
c.775G>A (p.Gly259Arg)
c.758G>A (p.Trp253Ter)
c.659G>A (p.Trp220Ter)
c.2106+228093C>T (n.2106+228093C>T)
c.763G>A (p.Gly255Arg)
c.1067G>A (p.Trp356Ter)
3g.184372801A=CA1425997823EIF2B5,THPOc.1194T= (p.Arg398=)
c.774T= (p.Arg258=)
c.757T= (p.Trp253=)
c.658T= (p.Trp220=)
c.2106+228094A= (n.2106+228094A=)
c.762T= (p.Arg254=)
c.1066T= (p.Trp356=)
3g.184372801A>CCA355461703EIF2B5,THPOc.1194T>G (p.Arg398=)
c.774T>G (p.Arg258=)
c.757T>G (p.Trp253Gly)
c.658T>G (p.Trp220Gly)
c.2106+228094A>C (n.2106+228094A>C)
c.762T>G (p.Arg254=)
c.1066T>G (p.Trp356Gly)
3g.184372801A>GCA355461704EIF2B5,THPOc.1194T>C (p.Arg398=)
c.774T>C (p.Arg258=)
c.757T>C (p.Trp253Arg)
c.658T>C (p.Trp220Arg)
c.2106+228094A>G (n.2106+228094A>G)
c.762T>C (p.Arg254=)
c.1066T>C (p.Trp356Arg)
3g.184372801A>TCA2734872EIF2B5,THPOc.1194T>A (p.Arg398=)
c.774T>A (p.Arg258=)
c.757T>A (p.Trp253Arg)
c.658T>A (p.Trp220Arg)
c.2106+228094A>T (n.2106+228094A>T)
c.762T>A (p.Arg254=)
c.1066T>A (p.Trp356Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.184372802C>ACA355461705EIF2B5,THPOc.1193G>T (p.Arg398Leu)
c.773G>T (p.Arg258Leu)
c.756G>T (p.Ser252=)
c.657G>T (p.Ser219=)
c.2106+228095C>A (n.2106+228095C>A)
c.761G>T (p.Arg254Leu)
c.1065G>T (p.Ser355=)
3g.184372802C=CA1425997824EIF2B5,THPOc.1193G= (p.Arg398=)
c.773G= (p.Arg258=)
c.756G= (p.Ser252=)
c.657G= (p.Ser219=)
c.2106+228095C= (n.2106+228095C=)
c.761G= (p.Arg254=)
c.1065G= (p.Ser355=)
3g.184372802C>GCA355461706EIF2B5,THPOc.1193G>C (p.Arg398Pro)
c.773G>C (p.Arg258Pro)
c.756G>C (p.Ser252=)
c.657G>C (p.Ser219=)
c.2106+228095C>G (n.2106+228095C>G)
c.761G>C (p.Arg254Pro)
c.1065G>C (p.Ser355=)
3g.184372802C>TCA2734873EIF2B5,THPOc.1193G>A (p.Arg398His)
c.773G>A (p.Arg258His)
c.756G>A (p.Ser252=)
c.657G>A (p.Ser219=)
c.2106+228095C>T (n.2106+228095C>T)
c.761G>A (p.Arg254His)
c.1065G>A (p.Ser355=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.184372803G>ACA2734874EIF2B5,THPOc.1192C>T (p.Arg398Cys)
c.772C>T (p.Arg258Cys)
c.755C>T (p.Ser252Leu)
c.656C>T (p.Ser219Leu)
c.2106+228096G>A (n.2106+228096G>A)
c.760C>T (p.Arg254Cys)
c.1064C>T (p.Ser355Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.184372803G>CCA355461707EIF2B5,THPOc.1192C>G (p.Arg398Gly)
c.772C>G (p.Arg258Gly)
c.755C>G (p.Ser252Trp)
c.656C>G (p.Ser219Trp)
c.2106+228096G>C (n.2106+228096G>C)
c.760C>G (p.Arg254Gly)
c.1064C>G (p.Ser355Trp)
3g.184372803G=CA1425997825EIF2B5,THPOc.1192C= (p.Arg398=)
c.772C= (p.Arg258=)
c.755C= (p.Ser252=)
c.656C= (p.Ser219=)
c.2106+228096G= (n.2106+228096G=)
c.760C= (p.Arg254=)
c.1064C= (p.Ser355=)
3g.184372803G>TCA355461708EIF2B5,THPOc.1192C>A (p.Arg398Ser)
c.772C>A (p.Arg258Ser)
c.755C>A (p.Ser252Ter)
c.656C>A (p.Ser219Ter)
c.2106+228096G>T (n.2106+228096G>T)
c.760C>A (p.Arg254Ser)
c.1064C>A (p.Ser355Ter)
 gnomAD v4
3g.184372804A>CCA355461710EIF2B5,THPOc.1191T>G (p.Thr397=)
c.771T>G (p.Thr257=)
c.754T>G (p.Ser252Ala)
c.655T>G (p.Ser219Ala)
c.2106+228097A>C (n.2106+228097A>C)
c.759T>G (p.Thr253=)
c.1063T>G (p.Ser355Ala)
3g.184372804A>GCA355461711EIF2B5,THPOc.1191T>C (p.Thr397=)
c.771T>C (p.Thr257=)
c.754T>C (p.Ser252Pro)
c.655T>C (p.Ser219Pro)
c.2106+228097A>G (n.2106+228097A>G)
c.759T>C (p.Thr253=)
c.1063T>C (p.Ser355Pro)
3g.184372804A>TCA355461709EIF2B5,THPOc.1191T>A (p.Thr397=)
c.771T>A (p.Thr257=)
c.754T>A (p.Ser252Thr)
c.655T>A (p.Ser219Thr)
c.2106+228097A>T (n.2106+228097A>T)
c.759T>A (p.Thr253=)
c.1063T>A (p.Ser355Thr)
3g.184372805G>ACA355461712EIF2B5,THPOc.1190C>T (p.Thr397Ile)
c.770C>T (p.Thr257Ile)
c.753C>T (p.Asn251=)
c.654C>T (p.Asn218=)
c.2106+228098G>A (n.2106+228098G>A)
c.758C>T (p.Thr253Ile)
c.1062C>T (p.Asn354=)
 dbSNP gnomAD v4
3g.184372805G>CCA355461713EIF2B5,THPOc.1190C>G (p.Thr397Ser)
c.770C>G (p.Thr257Ser)
c.753C>G (p.Asn251Lys)
c.654C>G (p.Asn218Lys)
c.2106+228098G>C (n.2106+228098G>C)
c.758C>G (p.Thr253Ser)
c.1062C>G (p.Asn354Lys)
3g.184372805G>TCA355461714EIF2B5,THPOc.1190C>A (p.Thr397Asn)
c.770C>A (p.Thr257Asn)
c.753C>A (p.Asn251Lys)
c.654C>A (p.Asn218Lys)
c.2106+228098G>T (n.2106+228098G>T)
c.758C>A (p.Thr253Asn)
c.1062C>A (p.Asn354Lys)
3g.184372806T>ACA355461715EIF2B5,THPOc.1189A>T (p.Thr397Ser)
c.769A>T (p.Thr257Ser)
c.752A>T (p.Asn251Ile)
c.653A>T (p.Asn218Ile)
c.2106+228099T>A (n.2106+228099T>A)
c.757A>T (p.Thr253Ser)
c.1061A>T (p.Asn354Ile)
 gnomAD v4
3g.184372806T>CCA355461716EIF2B5,THPOc.1189A>G (p.Thr397Ala)
c.769A>G (p.Thr257Ala)
c.752A>G (p.Asn251Ser)
c.653A>G (p.Asn218Ser)
c.2106+228099T>C (n.2106+228099T>C)
c.757A>G (p.Thr253Ala)
c.1061A>G (p.Asn354Ser)
 COSMIC
3g.184372806T>GCA355461717EIF2B5,THPOc.1189A>C (p.Thr397Pro)
c.769A>C (p.Thr257Pro)
c.752A>C (p.Asn251Thr)
c.653A>C (p.Asn218Thr)
c.2106+228099T>G (n.2106+228099T>G)
c.757A>C (p.Thr253Pro)
c.1061A>C (p.Asn354Thr)
3g.184372807T>ACA355461718EIF2B5,THPOc.1188A>T (p.Gly396=)
c.768A>T (p.Gly256=)
c.751A>T (p.Asn251Tyr)
c.652A>T (p.Asn218Tyr)
c.2106+228100T>A (n.2106+228100T>A)
c.756A>T (p.Gly252=)
c.1060A>T (p.Asn354Tyr)
 dbSNP gnomAD v4
3g.184372807T>CCA355461719EIF2B5,THPOc.1188A>G (p.Gly396=)
c.768A>G (p.Gly256=)
c.751A>G (p.Asn251Asp)
c.652A>G (p.Asn218Asp)
c.2106+228100T>C (n.2106+228100T>C)
c.756A>G (p.Gly252=)
c.1060A>G (p.Asn354Asp)
3g.184372807T>GCA355461720EIF2B5,THPOc.1188A>C (p.Gly396=)
c.768A>C (p.Gly256=)
c.751A>C (p.Asn251His)
c.652A>C (p.Asn218His)
c.2106+228100T>G (n.2106+228100T>G)
c.756A>C (p.Gly252=)
c.1060A>C (p.Asn354His)
 gnomAD v4
3g.184372808C>ACA355461721EIF2B5,THPOc.1187G>T (p.Gly396Val)
c.767G>T (p.Gly256Val)
c.750G>T (p.Trp250Cys)
c.651G>T (p.Trp217Cys)
c.2106+228101C>A (n.2106+228101C>A)
c.755G>T (p.Gly252Val)
c.1059G>T (p.Trp353Cys)
 COSMIC
3g.184372808C=CA1425997826EIF2B5,THPOc.1187G= (p.Gly396=)
c.767G= (p.Gly256=)
c.750G= (p.Trp250=)
c.651G= (p.Trp217=)
c.2106+228101C= (n.2106+228101C=)
c.755G= (p.Gly252=)
c.1059G= (p.Trp353=)
3g.184372808C>GCA355461722EIF2B5,THPOc.1187G>C (p.Gly396Ala)
c.767G>C (p.Gly256Ala)
c.750G>C (p.Trp250Cys)
c.651G>C (p.Trp217Cys)
c.2106+228101C>G (n.2106+228101C>G)
c.755G>C (p.Gly252Ala)
c.1059G>C (p.Trp353Cys)
 dbSNP
3g.184372808C>TCA355461723EIF2B5,THPOc.1187G>A (p.Gly396Glu)
c.767G>A (p.Gly256Glu)
c.750G>A (p.Trp250Ter)
c.651G>A (p.Trp217Ter)
c.2106+228101C>T (n.2106+228101C>T)
c.755G>A (p.Gly252Glu)
c.1059G>A (p.Trp353Ter)
 COSMIC
3g.184372809C>ACA355461725EIF2B5,THPOc.1186G>T (p.Gly396Ter)
c.766G>T (p.Gly256Ter)
c.749G>T (p.Trp250Leu)
c.650G>T (p.Trp217Leu)
c.2106+228102C>A (n.2106+228102C>A)
c.754G>T (p.Gly252Ter)
c.1058G>T (p.Trp353Leu)
3g.184372809C=CA1425997827EIF2B5,THPOc.1186G= (p.Gly396=)
c.766G= (p.Gly256=)
c.749G= (p.Trp250=)
c.650G= (p.Trp217=)
c.2106+228102C= (n.2106+228102C=)
c.754G= (p.Gly252=)
c.1058G= (p.Trp353=)
3g.184372809C>GCA355461726EIF2B5,THPOc.1186G>C (p.Gly396Arg)
c.766G>C (p.Gly256Arg)
c.749G>C (p.Trp250Ser)
c.650G>C (p.Trp217Ser)
c.2106+228102C>G (n.2106+228102C>G)
c.754G>C (p.Gly252Arg)
c.1058G>C (p.Trp353Ser)
3g.184372809C>TCA355461724EIF2B5,THPOc.1186G>A (p.Gly396Arg)
c.766G>A (p.Gly256Arg)
c.749G>A (p.Trp250Ter)
c.650G>A (p.Trp217Ter)
c.2106+228102C>T (n.2106+228102C>T)
c.754G>A (p.Gly252Arg)
c.1058G>A (p.Trp353Ter)
 dbSNP
3g.184372810A=CA1425997828EIF2B5,THPOc.1185T= (p.Asn395=)
c.765T= (p.Asn255=)
c.748T= (p.Trp250=)
c.649T= (p.Trp217=)
c.2106+228103A= (n.2106+228103A=)
c.753T= (p.Asn251=)
c.1057T= (p.Trp353=)
3g.184372810A>CCA355461727EIF2B5,THPOc.1185T>G (p.Asn395Lys)
c.765T>G (p.Asn255Lys)
c.748T>G (p.Trp250Gly)
c.649T>G (p.Trp217Gly)
c.2106+228103A>C (n.2106+228103A>C)
c.753T>G (p.Asn251Lys)
c.1057T>G (p.Trp353Gly)
 dbSNP gnomAD v3 gnomAD v4
3g.184372810A>GCA355461728EIF2B5,THPOc.1185T>C (p.Asn395=)
c.765T>C (p.Asn255=)
c.748T>C (p.Trp250Arg)
c.649T>C (p.Trp217Arg)
c.2106+228103A>G (n.2106+228103A>G)
c.753T>C (p.Asn251=)
c.1057T>C (p.Trp353Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.184372810A>TCA355461729EIF2B5,THPOc.1185T>A (p.Asn395Lys)
c.765T>A (p.Asn255Lys)
c.748T>A (p.Trp250Arg)
c.649T>A (p.Trp217Arg)
c.2106+228103A>T (n.2106+228103A>T)
c.753T>A (p.Asn251Lys)
c.1057T>A (p.Trp353Arg)
3g.184372811T>ACA355461730EIF2B5,THPOc.1184A>T (p.Asn395Ile)
c.764A>T (p.Asn255Ile)
c.747A>T (p.Glu249Asp)
c.648A>T (p.Glu216Asp)
c.2106+228104T>A (n.2106+228104T>A)
c.752A>T (p.Asn251Ile)
c.1056A>T (p.Glu352Asp)
3g.184372811T>CCA355461731EIF2B5,THPOc.1184A>G (p.Asn395Ser)
c.764A>G (p.Asn255Ser)
c.747A>G (p.Glu249=)
c.648A>G (p.Glu216=)
c.2106+228104T>C (n.2106+228104T>C)
c.752A>G (p.Asn251Ser)
c.1056A>G (p.Glu352=)
3g.184372811T>GCA355461732EIF2B5,THPOc.1184A>C (p.Asn395Thr)
c.764A>C (p.Asn255Thr)
c.747A>C (p.Glu249Asp)
c.648A>C (p.Glu216Asp)
c.2106+228104T>G (n.2106+228104T>G)
c.752A>C (p.Asn251Thr)
c.1056A>C (p.Glu352Asp)
3g.184372812T>ACA355461735EIF2B5,THPOc.1183A>T (p.Asn395Tyr)
c.763A>T (p.Asn255Tyr)
c.746A>T (p.Glu249Val)
c.647A>T (p.Glu216Val)
c.2106+228105T>A (n.2106+228105T>A)
c.751A>T (p.Asn251Tyr)
c.1055A>T (p.Glu352Val)
3g.184372812T>CCA355461733EIF2B5,THPOc.1183A>G (p.Asn395Asp)
c.763A>G (p.Asn255Asp)
c.746A>G (p.Glu249Gly)
c.647A>G (p.Glu216Gly)
c.2106+228105T>C (n.2106+228105T>C)
c.751A>G (p.Asn251Asp)
c.1055A>G (p.Glu352Gly)
3g.184372812T>GCA355461734EIF2B5,THPOc.1183A>C (p.Asn395His)
c.763A>C (p.Asn255His)
c.746A>C (p.Glu249Ala)
c.647A>C (p.Glu216Ala)
c.2106+228105T>G (n.2106+228105T>G)
c.751A>C (p.Asn251His)
c.1055A>C (p.Glu352Ala)
3g.184372813C>ACA355461736EIF2B5,THPOc.1182G>T (p.Leu394Phe)
c.762G>T (p.Leu254Phe)
c.745G>T (p.Glu249Ter)
c.646G>T (p.Glu216Ter)
c.2106+228106C>A (n.2106+228106C>A)
c.750G>T (p.Leu250Phe)
c.1054G>T (p.Glu352Ter)
3g.184372813C>GCA355461737EIF2B5,THPOc.1182G>C (p.Leu394Phe)
c.762G>C (p.Leu254Phe)
c.745G>C (p.Glu249Gln)
c.646G>C (p.Glu216Gln)
c.2106+228106C>G (n.2106+228106C>G)
c.750G>C (p.Leu250Phe)
c.1054G>C (p.Glu352Gln)
3g.184372813C>TCA355461738EIF2B5,THPOc.1182G>A (p.Leu394=)
c.762G>A (p.Leu254=)
c.745G>A (p.Glu249Lys)
c.646G>A (p.Glu216Lys)
c.2106+228106C>T (n.2106+228106C>T)
c.750G>A (p.Leu250=)
c.1054G>A (p.Glu352Lys)
3g.184372814A=CA1425997829EIF2B5,THPOc.1181T= (p.Leu394=)
c.761T= (p.Leu254=)
c.744T= (p.Leu248=)
c.645T= (p.Leu215=)
c.2106+228107A= (n.2106+228107A=)
c.749T= (p.Leu250=)
c.1053T= (p.Leu351=)
3g.184372814A>CCA355461739EIF2B5,THPOc.1181T>G (p.Leu394Trp)
c.761T>G (p.Leu254Trp)
c.744T>G (p.Leu248=)
c.645T>G (p.Leu215=)
c.2106+228107A>C (n.2106+228107A>C)
c.749T>G (p.Leu250Trp)
c.1053T>G (p.Leu351=)
 dbSNP gnomAD v2 gnomAD v4
3g.184372814A>GCA355461740EIF2B5,THPOc.1181T>C (p.Leu394Ser)
c.761T>C (p.Leu254Ser)
c.744T>C (p.Leu248=)
c.645T>C (p.Leu215=)
c.2106+228107A>G (n.2106+228107A>G)
c.749T>C (p.Leu250Ser)
c.1053T>C (p.Leu351=)
3g.184372814A>TCA355461741EIF2B5,THPOc.1181T>A (p.Leu394Ter)
c.761T>A (p.Leu254Ter)
c.744T>A (p.Leu248=)
c.645T>A (p.Leu215=)
c.2106+228107A>T (n.2106+228107A>T)
c.749T>A (p.Leu250Ter)
c.1053T>A (p.Leu351=)
3g.184372815A>CCA355461744EIF2B5,THPOc.1180T>G (p.Leu394Val)
c.760T>G (p.Leu254Val)
c.743T>G (p.Leu248Arg)
c.644T>G (p.Leu215Arg)
c.2106+228108A>C (n.2106+228108A>C)
c.748T>G (p.Leu250Val)
c.1052T>G (p.Leu351Arg)
3g.184372815A>GCA355461743EIF2B5,THPOc.1180T>C (p.Leu394=)
c.760T>C (p.Leu254=)
c.743T>C (p.Leu248Pro)
c.644T>C (p.Leu215Pro)
c.2106+228108A>G (n.2106+228108A>G)
c.748T>C (p.Leu250=)
c.1052T>C (p.Leu351Pro)
3g.184372815A>TCA355461742EIF2B5,THPOc.1180T>A (p.Leu394Met)
c.760T>A (p.Leu254Met)
c.743T>A (p.Leu248His)
c.644T>A (p.Leu215His)
c.2106+228108A>T (n.2106+228108A>T)
c.748T>A (p.Leu250Met)
c.1052T>A (p.Leu351His)
3g.184372816G>ACA355461746EIF2B5,THPOc.1179C>T (p.Leu393=)
c.759C>T (p.Leu253=)
c.742C>T (p.Leu248Phe)
c.643C>T (p.Leu215Phe)
c.2106+228109G>A (n.2106+228109G>A)
c.747C>T (p.Leu249=)
c.1051C>T (p.Leu351Phe)
3g.184372816G>CCA355461745EIF2B5,THPOc.1179C>G (p.Leu393=)
c.759C>G (p.Leu253=)
c.742C>G (p.Leu248Val)
c.643C>G (p.Leu215Val)
c.2106+228109G>C (n.2106+228109G>C)
c.747C>G (p.Leu249=)
c.1051C>G (p.Leu351Val)
3g.184372816G>TCA355461747EIF2B5,THPOc.1179C>A (p.Leu393=)
c.759C>A (p.Leu253=)
c.742C>A (p.Leu248Ile)
c.643C>A (p.Leu215Ile)
c.2106+228109G>T (n.2106+228109G>T)
c.747C>A (p.Leu249=)
c.1051C>A (p.Leu351Ile)
3g.184372817A=CA1425997830EIF2B5,THPOc.1178T= (p.Leu393=)
c.758T= (p.Leu253=)
c.741T= (p.Thr247=)
c.642T= (p.Thr214=)
c.2106+228110A= (n.2106+228110A=)
c.746T= (p.Leu249=)
c.1050T= (p.Thr350=)
3g.184372817A>CCA355461748EIF2B5,THPOc.1178T>G (p.Leu393Arg)
c.758T>G (p.Leu253Arg)
c.741T>G (p.Thr247=)
c.642T>G (p.Thr214=)
c.2106+228110A>C (n.2106+228110A>C)
c.746T>G (p.Leu249Arg)
c.1050T>G (p.Thr350=)
3g.184372817A>GCA355461749EIF2B5,THPOc.1178T>C (p.Leu393Pro)
c.758T>C (p.Leu253Pro)
c.741T>C (p.Thr247=)
c.642T>C (p.Thr214=)
c.2106+228110A>G (n.2106+228110A>G)
c.746T>C (p.Leu249Pro)
c.1050T>C (p.Thr350=)
3g.184372817A>TCA88912269EIF2B5,THPOc.1178T>A (p.Leu393His)
c.758T>A (p.Leu253His)
c.741T>A (p.Thr247=)
c.642T>A (p.Thr214=)
c.2106+228110A>T (n.2106+228110A>T)
c.746T>A (p.Leu249His)
c.1050T>A (p.Thr350=)
 dbSNP
3g.184372818G>ACA355461750EIF2B5,THPOc.1177C>T (p.Leu393Phe)
c.757C>T (p.Leu253Phe)
c.740C>T (p.Thr247Ile)
c.641C>T (p.Thr214Ile)
c.2106+228111G>A (n.2106+228111G>A)
c.745C>T (p.Leu249Phe)
c.1049C>T (p.Thr350Ile)
 dbSNP gnomAD v2 gnomAD v4
3g.184372818G>CCA355461751EIF2B5,THPOc.1177C>G (p.Leu393Val)
c.757C>G (p.Leu253Val)
c.740C>G (p.Thr247Ser)
c.641C>G (p.Thr214Ser)
c.2106+228111G>C (n.2106+228111G>C)
c.745C>G (p.Leu249Val)
c.1049C>G (p.Thr350Ser)
3g.184372818G=CA1425997831EIF2B5,THPOc.1177C= (p.Leu393=)
c.757C= (p.Leu253=)
c.740C= (p.Thr247=)
c.641C= (p.Thr214=)
c.2106+228111G= (n.2106+228111G=)
c.745C= (p.Leu249=)
c.1049C= (p.Thr350=)
3g.184372818G>TCA355461752EIF2B5,THPOc.1177C>A (p.Leu393Ile)
c.757C>A (p.Leu253Ile)
c.740C>A (p.Thr247Asn)
c.641C>A (p.Thr214Asn)
c.2106+228111G>T (n.2106+228111G>T)
c.745C>A (p.Leu249Ile)
c.1049C>A (p.Thr350Asn)
3g.184372819T>ACA2734875EIF2B5,THPOc.1176A>T (p.Glu392Asp)
c.756A>T (p.Glu252Asp)
c.739A>T (p.Thr247Ser)
c.640A>T (p.Thr214Ser)
c.2106+228112T>A (n.2106+228112T>A)
c.744A>T (p.Glu248Asp)
c.1048A>T (p.Thr350Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.184372819T>CCA355461753EIF2B5,THPOc.1176A>G (p.Glu392=)
c.756A>G (p.Glu252=)
c.739A>G (p.Thr247Ala)
c.640A>G (p.Thr214Ala)
c.2106+228112T>C (n.2106+228112T>C)
c.744A>G (p.Glu248=)
c.1048A>G (p.Thr350Ala)
3g.184372819T>GCA355461754EIF2B5,THPOc.1176A>C (p.Glu392Asp)
c.756A>C (p.Glu252Asp)
c.739A>C (p.Thr247Pro)
c.640A>C (p.Thr214Pro)
c.2106+228112T>G (n.2106+228112T>G)
c.744A>C (p.Glu248Asp)
c.1048A>C (p.Thr350Pro)
3g.184372819T=CA1425997832EIF2B5,THPOc.1176A= (p.Glu392=)
c.756A= (p.Glu252=)
c.739A= (p.Thr247=)
c.640A= (p.Thr214=)
c.2106+228112T= (n.2106+228112T=)
c.744A= (p.Glu248=)
c.1048A= (p.Thr350=)
3g.184372820T>ACA355461755EIF2B5,THPOc.1175A>T (p.Glu392Val)
c.755A>T (p.Glu252Val)
c.738A>T (p.Arg246=)
c.639A>T (p.Arg213=)
c.2106+228113T>A (n.2106+228113T>A)
c.743A>T (p.Glu248Val)
c.1047A>T (p.Arg349=)
3g.184372820T>CCA355461756EIF2B5,THPOc.1175A>G (p.Glu392Gly)
c.755A>G (p.Glu252Gly)
c.738A>G (p.Arg246=)
c.639A>G (p.Arg213=)
c.2106+228113T>C (n.2106+228113T>C)
c.743A>G (p.Glu248Gly)
c.1047A>G (p.Arg349=)
 COSMIC
3g.184372820T>GCA355461757EIF2B5,THPOc.1175A>C (p.Glu392Ala)
c.755A>C (p.Glu252Ala)
c.738A>C (p.Arg246=)
c.639A>C (p.Arg213=)
c.2106+228113T>G (n.2106+228113T>G)
c.743A>C (p.Glu248Ala)
c.1047A>C (p.Arg349=)
 gnomAD v4
3g.184372821C>ACA355461759EIF2B5,THPOc.1174G>T (p.Glu392Ter)
c.754G>T (p.Glu252Ter)
c.737G>T (p.Arg246Leu)
c.638G>T (p.Arg213Leu)
c.2106+228114C>A (n.2106+228114C>A)
c.742G>T (p.Glu248Ter)
c.1046G>T (p.Arg349Leu)
3g.184372821C=CA1425997833EIF2B5,THPOc.1174G= (p.Glu392=)
c.754G= (p.Glu252=)
c.737G= (p.Arg246=)
c.638G= (p.Arg213=)
c.2106+228114C= (n.2106+228114C=)
c.742G= (p.Glu248=)
c.1046G= (p.Arg349=)
3g.184372821C>GCA355461758EIF2B5,THPOc.1174G>C (p.Glu392Gln)
c.754G>C (p.Glu252Gln)
c.737G>C (p.Arg246Pro)
c.638G>C (p.Arg213Pro)
c.2106+228114C>G (n.2106+228114C>G)
c.742G>C (p.Glu248Gln)
c.1046G>C (p.Arg349Pro)
3g.184372821C>TCA2734876EIF2B5,THPOc.1174G>A (p.Glu392Lys)
c.754G>A (p.Glu252Lys)
c.737G>A (p.Arg246Gln)
c.638G>A (p.Arg213Gln)
c.2106+228114C>T (n.2106+228114C>T)
c.742G>A (p.Glu248Lys)
c.1046G>A (p.Arg349Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
3g.184372822G>ACA2734877EIF2B5,THPOc.1173C>T (p.His391=)
c.753C>T (p.His251=)
c.736C>T (p.Arg246Ter)
c.637C>T (p.Arg213Ter)
c.2106+228115G>A (n.2106+228115G>A)
c.741C>T (p.His247=)
c.1045C>T (p.Arg349Ter)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.184372822G>CCA2734878EIF2B5,THPOc.1173C>G (p.His391Gln)
c.753C>G (p.His251Gln)
c.736C>G (p.Arg246Gly)
c.637C>G (p.Arg213Gly)
c.2106+228115G>C (n.2106+228115G>C)
c.741C>G (p.His247Gln)
c.1045C>G (p.Arg349Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.184372822G=CA1425997834EIF2B5,THPOc.1173C= (p.His391=)
c.753C= (p.His251=)
c.736C= (p.Arg246=)
c.637C= (p.Arg213=)
c.2106+228115G= (n.2106+228115G=)
c.741C= (p.His247=)
c.1045C= (p.Arg349=)
3g.184372822G>TCA2734879EIF2B5,THPOc.1173C>A (p.His391Gln)
c.753C>A (p.His251Gln)
c.736C>A (p.Arg246=)
c.637C>A (p.Arg213=)
c.2106+228115G>T (n.2106+228115G>T)
c.741C>A (p.His247Gln)
c.1045C>A (p.Arg349=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.184372823T>ACA355461760EIF2B5,THPOc.1172A>T (p.His391Leu)
c.752A>T (p.His251Leu)
c.735A>T (p.Thr245=)
c.636A>T (p.Thr212=)
c.2106+228116T>A (n.2106+228116T>A)
c.740A>T (p.His247Leu)
c.1044A>T (p.Thr348=)
3g.184372823T>CCA355461761EIF2B5,THPOc.1172A>G (p.His391Arg)
c.752A>G (p.His251Arg)
c.735A>G (p.Thr245=)
c.636A>G (p.Thr212=)
c.2106+228116T>C (n.2106+228116T>C)
c.740A>G (p.His247Arg)
c.1044A>G (p.Thr348=)
3g.184372823T>GCA355461762EIF2B5,THPOc.1172A>C (p.His391Pro)
c.752A>C (p.His251Pro)
c.735A>C (p.Thr245=)
c.636A>C (p.Thr212=)
c.2106+228116T>G (n.2106+228116T>G)
c.740A>C (p.His247Pro)
c.1044A>C (p.Thr348=)
3g.184372824G>ACA355461763EIF2B5,THPOc.1171C>T (p.His391Tyr)
c.751C>T (p.His251Tyr)
c.734C>T (p.Thr245Ile)
c.635C>T (p.Thr212Ile)
c.2106+228117G>A (n.2106+228117G>A)
c.739C>T (p.His247Tyr)
c.1043C>T (p.Thr348Ile)
3g.184372824G>CCA355461764EIF2B5,THPOc.1171C>G (p.His391Asp)
c.751C>G (p.His251Asp)
c.734C>G (p.Thr245Arg)
c.635C>G (p.Thr212Arg)
c.2106+228117G>C (n.2106+228117G>C)
c.739C>G (p.His247Asp)
c.1043C>G (p.Thr348Arg)
3g.184372824G>TCA355461765EIF2B5,THPOc.1171C>A (p.His391Asn)
c.751C>A (p.His251Asn)
c.734C>A (p.Thr245Lys)
c.635C>A (p.Thr212Lys)
c.2106+228117G>T (n.2106+228117G>T)
c.739C>A (p.His247Asn)
c.1043C>A (p.Thr348Lys)
3g.184372825T>ACA355461766EIF2B5,THPOc.1170A>T (p.Ile390=)
c.750A>T (p.Ile250=)
c.733A>T (p.Thr245Ser)
c.634A>T (p.Thr212Ser)
c.2106+228118T>A (n.2106+228118T>A)
c.738A>T (p.Ile246=)
c.1042A>T (p.Thr348Ser)
3g.184372825T>CCA355461767EIF2B5,THPOc.1170A>G (p.Ile390Met)
c.750A>G (p.Ile250Met)
c.733A>G (p.Thr245Ala)
c.634A>G (p.Thr212Ala)
c.2106+228118T>C (n.2106+228118T>C)
c.738A>G (p.Ile246Met)
c.1042A>G (p.Thr348Ala)
3g.184372825T>GCA355461768EIF2B5,THPOc.1170A>C (p.Ile390=)
c.750A>C (p.Ile250=)
c.733A>C (p.Thr245Pro)
c.634A>C (p.Thr212Pro)
c.2106+228118T>G (n.2106+228118T>G)
c.738A>C (p.Ile246=)
c.1042A>C (p.Thr348Pro)
3g.184372826A>CCA355461771EIF2B5,THPOc.1169T>G (p.Ile390Arg)
c.749T>G (p.Ile250Arg)
c.732T>G (p.Asp244Glu)
c.633T>G (p.Asp211Glu)
c.2106+228119A>C (n.2106+228119A>C)
c.737T>G (p.Ile246Arg)
c.1041T>G (p.Asp347Glu)
3g.184372826A>GCA355461770EIF2B5,THPOc.1169T>C (p.Ile390Thr)
c.749T>C (p.Ile250Thr)
c.732T>C (p.Asp244=)
c.633T>C (p.Asp211=)
c.2106+228119A>G (n.2106+228119A>G)
c.737T>C (p.Ile246Thr)
c.1041T>C (p.Asp347=)
3g.184372826A>TCA355461769EIF2B5,THPOc.1169T>A (p.Ile390Lys)
c.749T>A (p.Ile250Lys)
c.732T>A (p.Asp244Glu)
c.633T>A (p.Asp211Glu)
c.2106+228119A>T (n.2106+228119A>T)
c.737T>A (p.Ile246Lys)
c.1041T>A (p.Asp347Glu)
3g.184372827T>ACA355461774EIF2B5,THPOc.1168A>T (p.Ile390Leu)
c.748A>T (p.Ile250Leu)
c.731A>T (p.Asp244Val)
c.632A>T (p.Asp211Val)
c.2106+228120T>A (n.2106+228120T>A)
c.736A>T (p.Ile246Leu)
c.1040A>T (p.Asp347Val)
3g.184372827T>CCA355461772EIF2B5,THPOc.1168A>G (p.Ile390Val)
c.748A>G (p.Ile250Val)
c.731A>G (p.Asp244Gly)
c.632A>G (p.Asp211Gly)
c.2106+228120T>C (n.2106+228120T>C)
c.736A>G (p.Ile246Val)
c.1040A>G (p.Asp347Gly)
3g.184372827T>GCA355461773EIF2B5,THPOc.1168A>C (p.Ile390Leu)
c.748A>C (p.Ile250Leu)
c.731A>C (p.Asp244Ala)
c.632A>C (p.Asp211Ala)
c.2106+228120T>G (n.2106+228120T>G)
c.736A>C (p.Ile246Leu)
c.1040A>C (p.Asp347Ala)
3g.184372828C>ACA88912299EIF2B5,THPOc.1167G>T (p.Arg389Ser)
c.747G>T (p.Arg249Ser)
c.730G>T (p.Asp244Tyr)
c.631G>T (p.Asp211Tyr)
c.2106+228121C>A (n.2106+228121C>A)
c.735G>T (p.Arg245Ser)
c.1039G>T (p.Asp347Tyr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.184372828C=CA1425997835EIF2B5,THPOc.1167G= (p.Arg389=)
c.747G= (p.Arg249=)
c.730G= (p.Asp244=)
c.631G= (p.Asp211=)
c.2106+228121C= (n.2106+228121C=)
c.735G= (p.Arg245=)
c.1039G= (p.Asp347=)
3g.184372828C>GCA355461775EIF2B5,THPOc.1167G>C (p.Arg389Ser)
c.747G>C (p.Arg249Ser)
c.730G>C (p.Asp244His)
c.631G>C (p.Asp211His)
c.2106+228121C>G (n.2106+228121C>G)
c.735G>C (p.Arg245Ser)
c.1039G>C (p.Asp347His)
 dbSNP gnomAD v2 gnomAD v4
3g.184372828C>TCA355461776EIF2B5,THPOc.1167G>A (p.Arg389=)
c.747G>A (p.Arg249=)
c.730G>A (p.Asp244Asn)
c.631G>A (p.Asp211Asn)
c.2106+228121C>T (n.2106+228121C>T)
c.735G>A (p.Arg245=)
c.1039G>A (p.Asp347Asn)
3g.184372829C>ACA355461779EIF2B5,THPOc.1166G>T (p.Arg389Met)
c.746G>T (p.Arg249Met)
c.729G>T (p.Gln243His)
c.630G>T (p.Gln210His)
c.2106+228122C>A (n.2106+228122C>A)
c.734G>T (p.Arg245Met)
c.1038G>T (p.Gln346His)
3g.184372829C>GCA355461778EIF2B5,THPOc.1166G>C (p.Arg389Thr)
c.746G>C (p.Arg249Thr)
c.729G>C (p.Gln243His)
c.630G>C (p.Gln210His)
c.2106+228122C>G (n.2106+228122C>G)
c.734G>C (p.Arg245Thr)
c.1038G>C (p.Gln346His)
3g.184372829C>TCA355461777EIF2B5,THPOc.1166G>A (p.Arg389Lys)
c.746G>A (p.Arg249Lys)
c.729G>A (p.Gln243=)
c.630G>A (p.Gln210=)
c.2106+228122C>T (n.2106+228122C>T)
c.734G>A (p.Arg245Lys)
c.1038G>A (p.Gln346=)
3g.184372830T>ACA355461780EIF2B5,THPOc.1165A>T (p.Arg389Trp)
c.745A>T (p.Arg249Trp)
c.728A>T (p.Gln243Leu)
c.629A>T (p.Gln210Leu)
c.2106+228123T>A (n.2106+228123T>A)
c.733A>T (p.Arg245Trp)
c.1037A>T (p.Gln346Leu)
3g.184372830T>CCA88912306EIF2B5,THPOc.1165A>G (p.Arg389Gly)
c.745A>G (p.Arg249Gly)
c.728A>G (p.Gln243Arg)
c.629A>G (p.Gln210Arg)
c.2106+228123T>C (n.2106+228123T>C)
c.733A>G (p.Arg245Gly)
c.1037A>G (p.Gln346Arg)
 dbSNP gnomAD v2 gnomAD v4
3g.184372830T>GCA355461781EIF2B5,THPOc.1165A>C (p.Arg389=)
c.745A>C (p.Arg249=)
c.728A>C (p.Gln243Pro)
c.629A>C (p.Gln210Pro)
c.2106+228123T>G (n.2106+228123T>G)
c.733A>C (p.Arg245=)
c.1037A>C (p.Gln346Pro)
3g.184372830T=CA1425997836EIF2B5,THPOc.1165A= (p.Arg389=)
c.745A= (p.Arg249=)
c.728A= (p.Gln243=)
c.629A= (p.Gln210=)
c.2106+228123T= (n.2106+228123T=)
c.733A= (p.Arg245=)
c.1037A= (p.Gln346=)
3g.184372831G>ACA355461782EIF2B5,THPOc.1164C>T (p.Asn388=)
c.744C>T (p.Asn248=)
c.727C>T (p.Gln243Ter)
c.628C>T (p.Gln210Ter)
c.2106+228124G>A (n.2106+228124G>A)
c.732C>T (p.Asn244=)
c.1036C>T (p.Gln346Ter)
 gnomAD v4
3g.184372831G>CCA355461783EIF2B5,THPOc.1164C>G (p.Asn388Lys)
c.744C>G (p.Asn248Lys)
c.727C>G (p.Gln243Glu)
c.628C>G (p.Gln210Glu)
c.2106+228124G>C (n.2106+228124G>C)
c.732C>G (p.Asn244Lys)
c.1036C>G (p.Gln346Glu)
3g.184372831G=CA1425997837EIF2B5,THPOc.1164C= (p.Asn388=)
c.744C= (p.Asn248=)
c.727C= (p.Gln243=)
c.628C= (p.Gln210=)
c.2106+228124G= (n.2106+228124G=)
c.732C= (p.Asn244=)
c.1036C= (p.Gln346=)
3g.184372831G>TCA355461784EIF2B5,THPOc.1164C>A (p.Asn388Lys)
c.744C>A (p.Asn248Lys)
c.727C>A (p.Gln243Lys)
c.628C>A (p.Gln210Lys)
c.2106+228124G>T (n.2106+228124G>T)
c.732C>A (p.Asn244Lys)
c.1036C>A (p.Gln346Lys)
 dbSNP gnomAD v2 gnomAD v4
3g.184372832T>ACA355461785EIF2B5,THPOc.1163A>T (p.Asn388Ile)
c.743A>T (p.Asn248Ile)
c.726A>T (p.Glu242Asp)
c.627A>T (p.Glu209Asp)
c.2106+228125T>A (n.2106+228125T>A)
c.731A>T (p.Asn244Ile)
c.1035A>T (p.Glu345Asp)
3g.184372832T>CCA355461787EIF2B5,THPOc.1163A>G (p.Asn388Ser)
c.743A>G (p.Asn248Ser)
c.726A>G (p.Glu242=)
c.627A>G (p.Glu209=)
c.2106+228125T>C (n.2106+228125T>C)
c.731A>G (p.Asn244Ser)
c.1035A>G (p.Glu345=)
3g.184372832T>GCA355461786EIF2B5,THPOc.1163A>C (p.Asn388Thr)
c.743A>C (p.Asn248Thr)
c.726A>C (p.Glu242Asp)
c.627A>C (p.Glu209Asp)
c.2106+228125T>G (n.2106+228125T>G)
c.731A>C (p.Asn244Thr)
c.1035A>C (p.Glu345Asp)
3g.184372833T>ACA355461788EIF2B5,THPOc.1162A>T (p.Asn388Tyr)
c.742A>T (p.Asn248Tyr)
c.725A>T (p.Glu242Val)
c.626A>T (p.Glu209Val)
c.2106+228126T>A (n.2106+228126T>A)
c.730A>T (p.Asn244Tyr)
c.1034A>T (p.Glu345Val)
3g.184372833T>CCA355461789EIF2B5,THPOc.1162A>G (p.Asn388Asp)
c.742A>G (p.Asn248Asp)
c.725A>G (p.Glu242Gly)
c.626A>G (p.Glu209Gly)
c.2106+228126T>C (n.2106+228126T>C)
c.730A>G (p.Asn244Asp)
c.1034A>G (p.Glu345Gly)
3g.184372833T>GCA355461790EIF2B5,THPOc.1162A>C (p.Asn388His)
c.742A>C (p.Asn248His)
c.725A>C (p.Glu242Ala)
c.626A>C (p.Glu209Ala)
c.2106+228126T>G (n.2106+228126T>G)
c.730A>C (p.Asn244His)
c.1034A>C (p.Glu345Ala)
3g.184372834C>ACA355461791EIF2B5,THPOc.1161G>T (p.Leu387=)
c.741G>T (p.Leu247=)
c.724G>T (p.Glu242Ter)
c.625G>T (p.Glu209Ter)
c.2106+228127C>A (n.2106+228127C>A)
c.729G>T (p.Leu243=)
c.1033G>T (p.Glu345Ter)
3g.184372834C>GCA355461792EIF2B5,THPOc.1161G>C (p.Leu387=)
c.741G>C (p.Leu247=)
c.724G>C (p.Glu242Gln)
c.625G>C (p.Glu209Gln)
c.2106+228127C>G (n.2106+228127C>G)
c.729G>C (p.Leu243=)
c.1033G>C (p.Glu345Gln)
3g.184372834C>TCA355461793EIF2B5,THPOc.1161G>A (p.Leu387=)
c.741G>A (p.Leu247=)
c.724G>A (p.Glu242Lys)
c.625G>A (p.Glu209Lys)
c.2106+228127C>T (n.2106+228127C>T)
c.729G>A (p.Leu243=)
c.1033G>A (p.Glu345Lys)
 gnomAD v4
3g.184372835A=CA1425997838EIF2B5,THPOc.1160T= (p.Leu387=)
c.740T= (p.Leu247=)
c.723T= (p.Pro241=)
c.624T= (p.Pro208=)
c.2106+228128A= (n.2106+228128A=)
c.728T= (p.Leu243=)
c.1032T= (p.Pro344=)
3g.184372835A>CCA355461794EIF2B5,THPOc.1160T>G (p.Leu387Arg)
c.740T>G (p.Leu247Arg)
c.723T>G (p.Pro241=)
c.624T>G (p.Pro208=)
c.2106+228128A>C (n.2106+228128A>C)
c.728T>G (p.Leu243Arg)
c.1032T>G (p.Pro344=)
3g.184372835A>GCA2734880EIF2B5,THPOc.1160T>C (p.Leu387Pro)
c.740T>C (p.Leu247Pro)
c.723T>C (p.Pro241=)
c.624T>C (p.Pro208=)
c.2106+228128A>G (n.2106+228128A>G)
c.728T>C (p.Leu243Pro)
c.1032T>C (p.Pro344=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.184372835A>TCA355461795EIF2B5,THPOc.1160T>A (p.Leu387Gln)
c.740T>A (p.Leu247Gln)
c.723T>A (p.Pro241=)
c.624T>A (p.Pro208=)
c.2106+228128A>T (n.2106+228128A>T)
c.728T>A (p.Leu243Gln)
c.1032T>A (p.Pro344=)
 dbSNP gnomAD v3 gnomAD v4
3g.184372836G>ACA355461796EIF2B5,THPOc.1159C>T (p.Leu387=)
c.739C>T (p.Leu247=)
c.722C>T (p.Pro241Leu)
c.623C>T (p.Pro208Leu)
c.2106+228129G>A (n.2106+228129G>A)
c.727C>T (p.Leu243=)
c.1031C>T (p.Pro344Leu)
3g.184372836G>CCA355461797EIF2B5,THPOc.1159C>G (p.Leu387Val)
c.739C>G (p.Leu247Val)
c.722C>G (p.Pro241Arg)
c.623C>G (p.Pro208Arg)
c.2106+228129G>C (n.2106+228129G>C)
c.727C>G (p.Leu243Val)
c.1031C>G (p.Pro344Arg)
3g.184372836G>TCA355461798EIF2B5,THPOc.1159C>A (p.Leu387Met)
c.739C>A (p.Leu247Met)
c.722C>A (p.Pro241His)
c.623C>A (p.Pro208His)
c.2106+228129G>T (n.2106+228129G>T)
c.727C>A (p.Leu243Met)
c.1031C>A (p.Pro344His)
3g.184372837G>ACA355461800EIF2B5,THPOc.1158C>T (p.Tyr386=)
c.738C>T (p.Tyr246=)
c.721C>T (p.Pro241Ser)
c.622C>T (p.Pro208Ser)
c.2106+228130G>A (n.2106+228130G>A)
c.726C>T (p.Tyr242=)
c.1030C>T (p.Pro344Ser)
 dbSNP gnomAD v3 gnomAD v4
3g.184372837G>CCA355461801EIF2B5,THPOc.1158C>G (p.Tyr386Ter)
c.738C>G (p.Tyr246Ter)
c.721C>G (p.Pro241Ala)
c.622C>G (p.Pro208Ala)
c.2106+228130G>C (n.2106+228130G>C)
c.726C>G (p.Tyr242Ter)
c.1030C>G (p.Pro344Ala)
3g.184372837G=CA1425997839EIF2B5,THPOc.1158C= (p.Tyr386=)
c.738C= (p.Tyr246=)
c.721C= (p.Pro241=)
c.622C= (p.Pro208=)
c.2106+228130G= (n.2106+228130G=)
c.726C= (p.Tyr242=)
c.1030C= (p.Pro344=)
3g.184372837G>TCA355461799EIF2B5,THPOc.1158C>A (p.Tyr386Ter)
c.738C>A (p.Tyr246Ter)
c.721C>A (p.Pro241Thr)
c.622C>A (p.Pro208Thr)
c.2106+228130G>T (n.2106+228130G>T)
c.726C>A (p.Tyr242Ter)
c.1030C>A (p.Pro344Thr)
3g.184372838T>ACA355461802EIF2B5,THPOc.1157A>T (p.Tyr386Phe)
c.737A>T (p.Tyr246Phe)
c.720A>T (p.Ile240=)
c.621A>T (p.Ile207=)
c.2106+228131T>A (n.2106+228131T>A)
c.725A>T (p.Tyr242Phe)
c.1029A>T (p.Ile343=)
3g.184372838T>CCA355461804EIF2B5,THPOc.1157A>G (p.Tyr386Cys)
c.737A>G (p.Tyr246Cys)
c.720A>G (p.Ile240Met)
c.621A>G (p.Ile207Met)
c.2106+228131T>C (n.2106+228131T>C)
c.725A>G (p.Tyr242Cys)
c.1029A>G (p.Ile343Met)
3g.184372838T>GCA355461803EIF2B5,THPOc.1157A>C (p.Tyr386Ser)
c.737A>C (p.Tyr246Ser)
c.720A>C (p.Ile240=)
c.621A>C (p.Ile207=)
c.2106+228131T>G (n.2106+228131T>G)
c.725A>C (p.Tyr242Ser)
c.1029A>C (p.Ile343=)
3g.184372839A>CCA355461805EIF2B5,THPOc.1156T>G (p.Tyr386Asp)
c.736T>G (p.Tyr246Asp)
c.719T>G (p.Ile240Arg)
c.620T>G (p.Ile207Arg)
c.2106+228132A>C (n.2106+228132A>C)
c.724T>G (p.Tyr242Asp)
c.1028T>G (p.Ile343Arg)
3g.184372839A>GCA355461806EIF2B5,THPOc.1156T>C (p.Tyr386His)
c.736T>C (p.Tyr246His)
c.719T>C (p.Ile240Thr)
c.620T>C (p.Ile207Thr)
c.2106+228132A>G (n.2106+228132A>G)
c.724T>C (p.Tyr242His)
c.1028T>C (p.Ile343Thr)
3g.184372839A>TCA355461807EIF2B5,THPOc.1156T>A (p.Tyr386Asn)
c.736T>A (p.Tyr246Asn)
c.719T>A (p.Ile240Lys)
c.620T>A (p.Ile207Lys)
c.2106+228132A>T (n.2106+228132A>T)
c.724T>A (p.Tyr242Asn)
c.1028T>A (p.Ile343Lys)
3g.184372840T>ACA355461808EIF2B5,THPOc.1155A>T (p.Gly385=)
c.735A>T (p.Gly245=)
c.718A>T (p.Ile240Leu)
c.619A>T (p.Ile207Leu)
c.2106+228133T>A (n.2106+228133T>A)
c.723A>T (p.Gly241=)
c.1027A>T (p.Ile343Leu)
3g.184372840T>CCA355461809EIF2B5,THPOc.1155A>G (p.Gly385=)
c.735A>G (p.Gly245=)
c.718A>G (p.Ile240Val)
c.619A>G (p.Ile207Val)
c.2106+228133T>C (n.2106+228133T>C)
c.723A>G (p.Gly241=)
c.1027A>G (p.Ile343Val)
3g.184372840T>GCA355461810EIF2B5,THPOc.1155A>C (p.Gly385=)
c.735A>C (p.Gly245=)
c.718A>C (p.Ile240Leu)
c.619A>C (p.Ile207Leu)
c.2106+228133T>G (n.2106+228133T>G)
c.723A>C (p.Gly241=)
c.1027A>C (p.Ile343Leu)
3g.184372841C>ACA355461811EIF2B5,THPOc.1154G>T (p.Gly385Val)
c.734G>T (p.Gly245Val)
c.717G>T (p.Arg239=)
c.618G>T (p.Arg206=)
c.2106+228134C>A (n.2106+228134C>A)
c.722G>T (p.Gly241Val)
c.1026G>T (p.Arg342=)
3g.184372841C>GCA355461812EIF2B5,THPOc.1154G>C (p.Gly385Ala)
c.734G>C (p.Gly245Ala)
c.717G>C (p.Arg239=)
c.618G>C (p.Arg206=)
c.2106+228134C>G (n.2106+228134C>G)
c.722G>C (p.Gly241Ala)
c.1026G>C (p.Arg342=)
3g.184372841C>TCA355461813EIF2B5,THPOc.1154G>A (p.Gly385Glu)
c.734G>A (p.Gly245Glu)
c.717G>A (p.Arg239=)
c.618G>A (p.Arg206=)
c.2106+228134C>T (n.2106+228134C>T)
c.722G>A (p.Gly241Glu)
c.1026G>A (p.Arg342=)
3g.184372842delCA2704881261EIF2B5,THPOc.1154del (p.Gly385AspfsTer3)
c.734del (p.Gly245AspfsTer3)
c.717del (p.Ile240TyrfsTer?)
c.618del (p.Ile207TyrfsTer?)
c.2106+228135del (n.2106+228135del)
c.722del (p.Gly241AspfsTer3)
c.1026del (p.Ile343TyrfsTer?)
 dbSNP
3g.184372842C>ACA355461814EIF2B5,THPOc.1153G>T (p.Gly385Ter)
c.733G>T (p.Gly245Ter)
c.716G>T (p.Arg239Leu)
c.617G>T (p.Arg206Leu)
c.2106+228135C>A (n.2106+228135C>A)
c.721G>T (p.Gly241Ter)
c.1025G>T (p.Arg342Leu)
3g.184372842C=CA1425997840EIF2B5,THPOc.1153G= (p.Gly385=)
c.733G= (p.Gly245=)
c.716G= (p.Arg239=)
c.617G= (p.Arg206=)
c.2106+228135C= (n.2106+228135C=)
c.721G= (p.Gly241=)
c.1025G= (p.Arg342=)
3g.184372842C>GCA355461815EIF2B5,THPOc.1153G>C (p.Gly385Arg)
c.733G>C (p.Gly245Arg)
c.716G>C (p.Arg239Pro)
c.617G>C (p.Arg206Pro)
c.2106+228135C>G (n.2106+228135C>G)
c.721G>C (p.Gly241Arg)
c.1025G>C (p.Arg342Pro)
3g.184372842C>TCA2734881EIF2B5,THPOc.1153G>A (p.Gly385Arg)
c.733G>A (p.Gly245Arg)
c.716G>A (p.Arg239Gln)
c.617G>A (p.Arg206Gln)
c.2106+228135C>T (n.2106+228135C>T)
c.721G>A (p.Gly241Arg)
c.1025G>A (p.Arg342Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.184372843G>ACA2734882EIF2B5,THPOc.1152C>T (p.Pro384=)
c.732C>T (p.Pro244=)
c.715C>T (p.Arg239Trp)
c.616C>T (p.Arg206Trp)
c.2106+228136G>A (n.2106+228136G>A)
c.720C>T (p.Pro240=)
c.1024C>T (p.Arg342Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.184372843G>CCA355461816EIF2B5,THPOc.1152C>G (p.Pro384=)
c.732C>G (p.Pro244=)
c.715C>G (p.Arg239Gly)
c.616C>G (p.Arg206Gly)
c.2106+228136G>C (n.2106+228136G>C)
c.720C>G (p.Pro240=)
c.1024C>G (p.Arg342Gly)
 dbSNP gnomAD v2 gnomAD v4
3g.184372843G=CA1425997841EIF2B5,THPOc.1152C= (p.Pro384=)
c.732C= (p.Pro244=)
c.715C= (p.Arg239=)
c.616C= (p.Arg206=)
c.2106+228136G= (n.2106+228136G=)
c.720C= (p.Pro240=)
c.1024C= (p.Arg342=)
3g.184372843G>TCA437332801EIF2B5,THPOc.1152C>A (p.Pro384=)
c.732C>A (p.Pro244=)
c.715C>A (p.Arg239=)
c.616C>A (p.Arg206=)
c.2106+228136G>T (n.2106+228136G>T)
c.720C>A (p.Pro240=)
c.1024C>A (p.Arg342=)
 COSMIC
3g.184372844G>ACA355461817EIF2B5,THPOc.1151C>T (p.Pro384Leu)
c.731C>T (p.Pro244Leu)
c.714C>T (p.Pro238=)
c.615C>T (p.Pro205=)
c.2106+228137G>A (n.2106+228137G>A)
c.719C>T (p.Pro240Leu)
c.1023C>T (p.Pro341=)
3g.184372844G>CCA355461818EIF2B5,THPOc.1151C>G (p.Pro384Arg)
c.731C>G (p.Pro244Arg)
c.714C>G (p.Pro238=)
c.615C>G (p.Pro205=)
c.2106+228137G>C (n.2106+228137G>C)
c.719C>G (p.Pro240Arg)
c.1023C>G (p.Pro341=)
3g.184372844G>TCA355461819EIF2B5,THPOc.1151C>A (p.Pro384His)
c.731C>A (p.Pro244His)
c.714C>A (p.Pro238=)
c.615C>A (p.Pro205=)
c.2106+228137G>T (n.2106+228137G>T)
c.719C>A (p.Pro240His)
c.1023C>A (p.Pro341=)
3g.184372845G>ACA355461820EIF2B5,THPOc.1150C>T (p.Pro384Ser)
c.730C>T (p.Pro244Ser)
c.713C>T (p.Pro238Leu)
c.614C>T (p.Pro205Leu)
c.2106+228138G>A (n.2106+228138G>A)
c.718C>T (p.Pro240Ser)
c.1022C>T (p.Pro341Leu)
 dbSNP
3g.184372845G>CCA355461821EIF2B5,THPOc.1150C>G (p.Pro384Ala)
c.730C>G (p.Pro244Ala)
c.713C>G (p.Pro238Arg)
c.614C>G (p.Pro205Arg)
c.2106+228138G>C (n.2106+228138G>C)
c.718C>G (p.Pro240Ala)
c.1022C>G (p.Pro341Arg)
3g.184372845G>TCA355461822EIF2B5,THPOc.1150C>A (p.Pro384Thr)
c.730C>A (p.Pro244Thr)
c.713C>A (p.Pro238His)
c.614C>A (p.Pro205His)
c.2106+228138G>T (n.2106+228138G>T)
c.718C>A (p.Pro240Thr)
c.1022C>A (p.Pro341His)
3g.184372846G>ACA355461823EIF2B5,THPOc.1149C>T (p.Ile383=)
c.729C>T (p.Ile243=)
c.712C>T (p.Pro238Ser)
c.613C>T (p.Pro205Ser)
c.2106+228139G>A (n.2106+228139G>A)
c.717C>T (p.Ile239=)
c.1021C>T (p.Pro341Ser)
3g.184372846G>CCA355461824EIF2B5,THPOc.1149C>G (p.Ile383Met)
c.729C>G (p.Ile243Met)
c.712C>G (p.Pro238Ala)
c.613C>G (p.Pro205Ala)
c.2106+228139G>C (n.2106+228139G>C)
c.717C>G (p.Ile239Met)
c.1021C>G (p.Pro341Ala)
3g.184372846G=CA1425997842EIF2B5,THPOc.1149C= (p.Ile383=)
c.729C= (p.Ile243=)
c.712C= (p.Pro238=)
c.613C= (p.Pro205=)
c.2106+228139G= (n.2106+228139G=)
c.717C= (p.Ile239=)
c.1021C= (p.Pro341=)
3g.184372846G>TCA2734883EIF2B5,THPOc.1149C>A (p.Ile383=)
c.729C>A (p.Ile243=)
c.712C>A (p.Pro238Thr)
c.613C>A (p.Pro205Thr)
c.2106+228139G>T (n.2106+228139G>T)
c.717C>A (p.Ile239=)
c.1021C>A (p.Pro341Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.184372847A>CCA355461825EIF2B5,THPOc.1148T>G (p.Ile383Ser)
c.728T>G (p.Ile243Ser)
c.711T>G (p.Asn237Lys)
c.612T>G (p.Asn204Lys)
c.2106+228140A>C (n.2106+228140A>C)
c.716T>G (p.Ile239Ser)
c.1020T>G (p.Asn340Lys)
 COSMIC
3g.184372847A>GCA355461826EIF2B5,THPOc.1148T>C (p.Ile383Thr)
c.728T>C (p.Ile243Thr)
c.711T>C (p.Asn237=)
c.612T>C (p.Asn204=)
c.2106+228140A>G (n.2106+228140A>G)
c.716T>C (p.Ile239Thr)
c.1020T>C (p.Asn340=)
3g.184372847A>TCA355461827EIF2B5,THPOc.1148T>A (p.Ile383Asn)
c.728T>A (p.Ile243Asn)
c.711T>A (p.Asn237Lys)
c.612T>A (p.Asn204Lys)
c.2106+228140A>T (n.2106+228140A>T)
c.716T>A (p.Ile239Asn)
c.1020T>A (p.Asn340Lys)
3g.184372848T>ACA355461828EIF2B5,THPOc.1147A>T (p.Ile383Phe)
c.727A>T (p.Ile243Phe)
c.710A>T (p.Asn237Ile)
c.611A>T (p.Asn204Ile)
c.2106+228141T>A (n.2106+228141T>A)
c.715A>T (p.Ile239Phe)
c.1019A>T (p.Asn340Ile)
3g.184372848T>CCA355461830EIF2B5,THPOc.1147A>G (p.Ile383Val)
c.727A>G (p.Ile243Val)
c.710A>G (p.Asn237Ser)
c.611A>G (p.Asn204Ser)
c.2106+228141T>C (n.2106+228141T>C)
c.715A>G (p.Ile239Val)
c.1019A>G (p.Asn340Ser)
 gnomAD v4
3g.184372848T>GCA355461829EIF2B5,THPOc.1147A>C (p.Ile383Leu)
c.727A>C (p.Ile243Leu)
c.710A>C (p.Asn237Thr)
c.611A>C (p.Asn204Thr)
c.2106+228141T>G (n.2106+228141T>G)
c.715A>C (p.Ile239Leu)
c.1019A>C (p.Asn340Thr)
3g.184372849T>ACA355461831EIF2B5,THPOc.1146A>T (p.Gln382His)
c.726A>T (p.Gln242His)
c.709A>T (p.Asn237Tyr)
c.610A>T (p.Asn204Tyr)
c.2106+228142T>A (n.2106+228142T>A)
c.714A>T (p.Gln238His)
c.1018A>T (p.Asn340Tyr)
3g.184372849T>CCA355461832EIF2B5,THPOc.1146A>G (p.Gln382=)
c.726A>G (p.Gln242=)
c.709A>G (p.Asn237Asp)
c.610A>G (p.Asn204Asp)
c.2106+228142T>C (n.2106+228142T>C)
c.714A>G (p.Gln238=)
c.1018A>G (p.Asn340Asp)
3g.184372849T>GCA355461833EIF2B5,THPOc.1146A>C (p.Gln382His)
c.726A>C (p.Gln242His)
c.709A>C (p.Asn237His)
c.610A>C (p.Asn204His)
c.2106+228142T>G (n.2106+228142T>G)
c.714A>C (p.Gln238His)
c.1018A>C (p.Asn340His)
3g.184372850T>ACA355461834EIF2B5,THPOc.1145A>T (p.Gln382Leu)
c.725A>T (p.Gln242Leu)
c.708A>T (p.Pro236=)
c.609A>T (p.Pro203=)
c.2106+228143T>A (n.2106+228143T>A)
c.713A>T (p.Gln238Leu)
c.1017A>T (p.Pro339=)
3g.184372850T>CCA355461835EIF2B5,THPOc.1145A>G (p.Gln382Arg)
c.725A>G (p.Gln242Arg)
c.708A>G (p.Pro236=)
c.609A>G (p.Pro203=)
c.2106+228143T>C (n.2106+228143T>C)
c.713A>G (p.Gln238Arg)
c.1017A>G (p.Pro339=)
3g.184372850T>GCA355461836EIF2B5,THPOc.1145A>C (p.Gln382Pro)
c.725A>C (p.Gln242Pro)
c.708A>C (p.Pro236=)
c.609A>C (p.Pro203=)
c.2106+228143T>G (n.2106+228143T>G)
c.713A>C (p.Gln238Pro)
c.1017A>C (p.Pro339=)

Number of alleles fetched