Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.184327234_184327254delCA2668840285EIF2B5,EIF4G1c.3447_3467del (p.Glu1149_Gly1155del)
c.3381_3401del (p.Glu1127_Gly1133del)
c.2794_2814del (n.2794_2814del)
c.2853_2873del (p.Glu951_Gly957del)
c.3450_3470del (p.Glu1150_Gly1156del)
c.2955_2975del (p.Glu985_Gly991del)
c.3468_3488del (p.Glu1156_Gly1162del)
c.3186_3206del (p.Glu1062_Gly1068del)
c.3330_3350del (p.Glu1110_Gly1116del)
c.3327_3347del (p.Glu1109_Gly1115del)
c.3189_3209del (p.Glu1063_Gly1069del)
c.2862_2882del (p.Glu954_Gly960del)
c.2859_2879del (p.Glu953_Gly959del)
c.2958_2978del (p.Glu986_Gly992del)
c.*2886_*2906del (n.*2886_*2906del)
c.2106+182527_2106+182547del (n.2106+182527_2106+182547del)
c.608_628del
 gnomAD v4
3g.184327240C>ACA437330274EIF2B5,EIF4G1c.3453C>A (p.Gly1151=)
c.3387C>A (p.Gly1129=)
c.2800C>A (n.2800C>A)
c.2859C>A (p.Gly953=)
c.3456C>A (p.Gly1152=)
c.2961C>A (p.Gly987=)
c.3474C>A (p.Gly1158=)
c.3192C>A (p.Gly1064=)
c.3336C>A (p.Gly1112=)
c.3333C>A (p.Gly1111=)
c.3195C>A (p.Gly1065=)
c.2868C>A (p.Gly956=)
c.2865C>A (p.Gly955=)
c.2964C>A (p.Gly988=)
c.*2892C>A (n.*2892C>A)
c.2106+182533C>A (n.2106+182533C>A)
c.614C>A
3g.184327240C=CA1425958131EIF2B5,EIF4G1c.3453C= (p.Gly1151=)
c.3387C= (p.Gly1129=)
c.2800C= (n.2800C=)
c.2859C= (p.Gly953=)
c.3456C= (p.Gly1152=)
c.2961C= (p.Gly987=)
c.3474C= (p.Gly1158=)
c.3192C= (p.Gly1064=)
c.3336C= (p.Gly1112=)
c.3333C= (p.Gly1111=)
c.3195C= (p.Gly1065=)
c.2868C= (p.Gly956=)
c.2865C= (p.Gly955=)
c.2964C= (p.Gly988=)
c.*2892C= (n.*2892C=)
c.2106+182533C= (n.2106+182533C=)
c.614C=
3g.184327240C>GCA2732815EIF2B5,EIF4G1c.3453C>G (p.Gly1151=)
c.3387C>G (p.Gly1129=)
c.2800C>G (n.2800C>G)
c.2859C>G (p.Gly953=)
c.3456C>G (p.Gly1152=)
c.2961C>G (p.Gly987=)
c.3474C>G (p.Gly1158=)
c.3192C>G (p.Gly1064=)
c.3336C>G (p.Gly1112=)
c.3333C>G (p.Gly1111=)
c.3195C>G (p.Gly1065=)
c.2868C>G (p.Gly956=)
c.2865C>G (p.Gly955=)
c.2964C>G (p.Gly988=)
c.*2892C>G (n.*2892C>G)
c.2106+182533C>G (n.2106+182533C>G)
c.614C>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.184327240C>TCA2732814EIF2B5,EIF4G1c.3453C>T (p.Gly1151=)
c.3387C>T (p.Gly1129=)
c.2800C>T (n.2800C>T)
c.2859C>T (p.Gly953=)
c.3456C>T (p.Gly1152=)
c.2961C>T (p.Gly987=)
c.3474C>T (p.Gly1158=)
c.3192C>T (p.Gly1064=)
c.3336C>T (p.Gly1112=)
c.3333C>T (p.Gly1111=)
c.3195C>T (p.Gly1065=)
c.2868C>T (p.Gly956=)
c.2865C>T (p.Gly955=)
c.2964C>T (p.Gly988=)
c.*2892C>T (n.*2892C>T)
c.2106+182533C>T (n.2106+182533C>T)
c.614C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.184327241G>ACA355413971EIF2B5,EIF4G1c.3454G>A (p.Glu1152Lys)
c.3388G>A (p.Glu1130Lys)
c.2801G>A (n.2801G>A)
c.2860G>A (p.Glu954Lys)
c.3457G>A (p.Glu1153Lys)
c.2962G>A (p.Glu988Lys)
c.3475G>A (p.Glu1159Lys)
c.3193G>A (p.Glu1065Lys)
c.3337G>A (p.Glu1113Lys)
c.3334G>A (p.Glu1112Lys)
c.3196G>A (p.Glu1066Lys)
c.2869G>A (p.Glu957Lys)
c.2866G>A (p.Glu956Lys)
c.2965G>A (p.Glu989Lys)
c.*2893G>A (n.*2893G>A)
c.2106+182534G>A (n.2106+182534G>A)
c.615G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.184327241G>CCA355413973EIF2B5,EIF4G1c.3454G>C (p.Glu1152Gln)
c.3388G>C (p.Glu1130Gln)
c.2801G>C (n.2801G>C)
c.2860G>C (p.Glu954Gln)
c.3457G>C (p.Glu1153Gln)
c.2962G>C (p.Glu988Gln)
c.3475G>C (p.Glu1159Gln)
c.3193G>C (p.Glu1065Gln)
c.3337G>C (p.Glu1113Gln)
c.3334G>C (p.Glu1112Gln)
c.3196G>C (p.Glu1066Gln)
c.2869G>C (p.Glu957Gln)
c.2866G>C (p.Glu956Gln)
c.2965G>C (p.Glu989Gln)
c.*2893G>C (n.*2893G>C)
c.2106+182534G>C (n.2106+182534G>C)
c.615G>C
3g.184327241G=CA1425958135EIF2B5,EIF4G1c.3454G= (p.Glu1152=)
c.3388G= (p.Glu1130=)
c.2801G= (n.2801G=)
c.2860G= (p.Glu954=)
c.3457G= (p.Glu1153=)
c.2962G= (p.Glu988=)
c.3475G= (p.Glu1159=)
c.3193G= (p.Glu1065=)
c.3337G= (p.Glu1113=)
c.3334G= (p.Glu1112=)
c.3196G= (p.Glu1066=)
c.2869G= (p.Glu957=)
c.2866G= (p.Glu956=)
c.2965G= (p.Glu989=)
c.*2893G= (n.*2893G=)
c.2106+182534G= (n.2106+182534G=)
c.615G=
3g.184327241G>TCA355413975EIF2B5,EIF4G1c.3454G>T (p.Glu1152Ter)
c.3388G>T (p.Glu1130Ter)
c.2801G>T (n.2801G>T)
c.2860G>T (p.Glu954Ter)
c.3457G>T (p.Glu1153Ter)
c.2962G>T (p.Glu988Ter)
c.3475G>T (p.Glu1159Ter)
c.3193G>T (p.Glu1065Ter)
c.3337G>T (p.Glu1113Ter)
c.3334G>T (p.Glu1112Ter)
c.3196G>T (p.Glu1066Ter)
c.2869G>T (p.Glu957Ter)
c.2866G>T (p.Glu956Ter)
c.2965G>T (p.Glu989Ter)
c.*2893G>T (n.*2893G>T)
c.2106+182534G>T (n.2106+182534G>T)
c.615G>T
3g.184327242A>CCA355413984EIF2B5,EIF4G1c.3455A>C (p.Glu1152Ala)
c.3389A>C (p.Glu1130Ala)
c.2802A>C (n.2802A>C)
c.2861A>C (p.Glu954Ala)
c.3458A>C (p.Glu1153Ala)
c.2963A>C (p.Glu988Ala)
c.3476A>C (p.Glu1159Ala)
c.3194A>C (p.Glu1065Ala)
c.3338A>C (p.Glu1113Ala)
c.3335A>C (p.Glu1112Ala)
c.3197A>C (p.Glu1066Ala)
c.2870A>C (p.Glu957Ala)
c.2867A>C (p.Glu956Ala)
c.2966A>C (p.Glu989Ala)
c.*2894A>C (n.*2894A>C)
c.2106+182535A>C (n.2106+182535A>C)
c.616A>C
3g.184327242A>GCA355413981EIF2B5,EIF4G1c.3455A>G (p.Glu1152Gly)
c.3389A>G (p.Glu1130Gly)
c.2802A>G (n.2802A>G)
c.2861A>G (p.Glu954Gly)
c.3458A>G (p.Glu1153Gly)
c.2963A>G (p.Glu988Gly)
c.3476A>G (p.Glu1159Gly)
c.3194A>G (p.Glu1065Gly)
c.3338A>G (p.Glu1113Gly)
c.3335A>G (p.Glu1112Gly)
c.3197A>G (p.Glu1066Gly)
c.2870A>G (p.Glu957Gly)
c.2867A>G (p.Glu956Gly)
c.2966A>G (p.Glu989Gly)
c.*2894A>G (n.*2894A>G)
c.2106+182535A>G (n.2106+182535A>G)
c.616A>G
3g.184327242A>TCA355413979EIF2B5,EIF4G1c.3455A>T (p.Glu1152Val)
c.3389A>T (p.Glu1130Val)
c.2802A>T (n.2802A>T)
c.2861A>T (p.Glu954Val)
c.3458A>T (p.Glu1153Val)
c.2963A>T (p.Glu988Val)
c.3476A>T (p.Glu1159Val)
c.3194A>T (p.Glu1065Val)
c.3338A>T (p.Glu1113Val)
c.3335A>T (p.Glu1112Val)
c.3197A>T (p.Glu1066Val)
c.2870A>T (p.Glu957Val)
c.2867A>T (p.Glu956Val)
c.2966A>T (p.Glu989Val)
c.*2894A>T (n.*2894A>T)
c.2106+182535A>T (n.2106+182535A>T)
c.616A>T
3g.184327243G>ACA437330277EIF2B5,EIF4G1c.3456G>A (p.Glu1152=)
c.3390G>A (p.Glu1130=)
c.2803G>A (n.2803G>A)
c.2862G>A (p.Glu954=)
c.3459G>A (p.Glu1153=)
c.2964G>A (p.Glu988=)
c.3477G>A (p.Glu1159=)
c.3195G>A (p.Glu1065=)
c.3339G>A (p.Glu1113=)
c.3336G>A (p.Glu1112=)
c.3198G>A (p.Glu1066=)
c.2871G>A (p.Glu957=)
c.2868G>A (p.Glu956=)
c.2967G>A (p.Glu989=)
c.*2895G>A (n.*2895G>A)
c.2106+182536G>A (n.2106+182536G>A)
c.617G>A
3g.184327243G>CCA355413987EIF2B5,EIF4G1c.3456G>C (p.Glu1152Asp)
c.3390G>C (p.Glu1130Asp)
c.2803G>C (n.2803G>C)
c.2862G>C (p.Glu954Asp)
c.3459G>C (p.Glu1153Asp)
c.2964G>C (p.Glu988Asp)
c.3477G>C (p.Glu1159Asp)
c.3195G>C (p.Glu1065Asp)
c.3339G>C (p.Glu1113Asp)
c.3336G>C (p.Glu1112Asp)
c.3198G>C (p.Glu1066Asp)
c.2871G>C (p.Glu957Asp)
c.2868G>C (p.Glu956Asp)
c.2967G>C (p.Glu989Asp)
c.*2895G>C (n.*2895G>C)
c.2106+182536G>C (n.2106+182536G>C)
c.617G>C
3g.184327243G>TCA355413989EIF2B5,EIF4G1c.3456G>T (p.Glu1152Asp)
c.3390G>T (p.Glu1130Asp)
c.2803G>T (n.2803G>T)
c.2862G>T (p.Glu954Asp)
c.3459G>T (p.Glu1153Asp)
c.2964G>T (p.Glu988Asp)
c.3477G>T (p.Glu1159Asp)
c.3195G>T (p.Glu1065Asp)
c.3339G>T (p.Glu1113Asp)
c.3336G>T (p.Glu1112Asp)
c.3198G>T (p.Glu1066Asp)
c.2871G>T (p.Glu957Asp)
c.2868G>T (p.Glu956Asp)
c.2967G>T (p.Glu989Asp)
c.*2895G>T (n.*2895G>T)
c.2106+182536G>T (n.2106+182536G>T)
c.617G>T
3g.184327244A=CA1425958138EIF2B5,EIF4G1c.3457A= (p.Lys1153=)
c.3391A= (p.Lys1131=)
c.2804A= (n.2804A=)
c.2863A= (p.Lys955=)
c.3460A= (p.Lys1154=)
c.2965A= (p.Lys989=)
c.3478A= (p.Lys1160=)
c.3196A= (p.Lys1066=)
c.3340A= (p.Lys1114=)
c.3337A= (p.Lys1113=)
c.3199A= (p.Lys1067=)
c.2872A= (p.Lys958=)
c.2869A= (p.Lys957=)
c.2968A= (p.Lys990=)
c.*2896A= (n.*2896A=)
c.2106+182537A= (n.2106+182537A=)
c.618A=
3g.184327244A>CCA355413992EIF2B5,EIF4G1c.3457A>C (p.Lys1153Gln)
c.3391A>C (p.Lys1131Gln)
c.2804A>C (n.2804A>C)
c.2863A>C (p.Lys955Gln)
c.3460A>C (p.Lys1154Gln)
c.2965A>C (p.Lys989Gln)
c.3478A>C (p.Lys1160Gln)
c.3196A>C (p.Lys1066Gln)
c.3340A>C (p.Lys1114Gln)
c.3337A>C (p.Lys1113Gln)
c.3199A>C (p.Lys1067Gln)
c.2872A>C (p.Lys958Gln)
c.2869A>C (p.Lys957Gln)
c.2968A>C (p.Lys990Gln)
c.*2896A>C (n.*2896A>C)
c.2106+182537A>C (n.2106+182537A>C)
c.618A>C
3g.184327244A>GCA2732816EIF2B5,EIF4G1c.3457A>G (p.Lys1153Glu)
c.3391A>G (p.Lys1131Glu)
c.2804A>G (n.2804A>G)
c.2863A>G (p.Lys955Glu)
c.3460A>G (p.Lys1154Glu)
c.2965A>G (p.Lys989Glu)
c.3478A>G (p.Lys1160Glu)
c.3196A>G (p.Lys1066Glu)
c.3340A>G (p.Lys1114Glu)
c.3337A>G (p.Lys1113Glu)
c.3199A>G (p.Lys1067Glu)
c.2872A>G (p.Lys958Glu)
c.2869A>G (p.Lys957Glu)
c.2968A>G (p.Lys990Glu)
c.*2896A>G (n.*2896A>G)
c.2106+182537A>G (n.2106+182537A>G)
c.618A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.184327244A>TCA355413996EIF2B5,EIF4G1c.3457A>T (p.Lys1153Ter)
c.3391A>T (p.Lys1131Ter)
c.2804A>T (n.2804A>T)
c.2863A>T (p.Lys955Ter)
c.3460A>T (p.Lys1154Ter)
c.2965A>T (p.Lys989Ter)
c.3478A>T (p.Lys1160Ter)
c.3196A>T (p.Lys1066Ter)
c.3340A>T (p.Lys1114Ter)
c.3337A>T (p.Lys1113Ter)
c.3199A>T (p.Lys1067Ter)
c.2872A>T (p.Lys958Ter)
c.2869A>T (p.Lys957Ter)
c.2968A>T (p.Lys990Ter)
c.*2896A>T (n.*2896A>T)
c.2106+182537A>T (n.2106+182537A>T)
c.618A>T
3g.184327245A>CCA355413999EIF2B5,EIF4G1c.3458A>C (p.Lys1153Thr)
c.3392A>C (p.Lys1131Thr)
c.2805A>C (n.2805A>C)
c.2864A>C (p.Lys955Thr)
c.3461A>C (p.Lys1154Thr)
c.2966A>C (p.Lys989Thr)
c.3479A>C (p.Lys1160Thr)
c.3197A>C (p.Lys1066Thr)
c.3341A>C (p.Lys1114Thr)
c.3338A>C (p.Lys1113Thr)
c.3200A>C (p.Lys1067Thr)
c.2873A>C (p.Lys958Thr)
c.2870A>C (p.Lys957Thr)
c.2969A>C (p.Lys990Thr)
c.*2897A>C (n.*2897A>C)
c.2106+182538A>C (n.2106+182538A>C)
c.619A>C
3g.184327245A>GCA355414002EIF2B5,EIF4G1c.3458A>G (p.Lys1153Arg)
c.3392A>G (p.Lys1131Arg)
c.2805A>G (n.2805A>G)
c.2864A>G (p.Lys955Arg)
c.3461A>G (p.Lys1154Arg)
c.2966A>G (p.Lys989Arg)
c.3479A>G (p.Lys1160Arg)
c.3197A>G (p.Lys1066Arg)
c.3341A>G (p.Lys1114Arg)
c.3338A>G (p.Lys1113Arg)
c.3200A>G (p.Lys1067Arg)
c.2873A>G (p.Lys958Arg)
c.2870A>G (p.Lys957Arg)
c.2969A>G (p.Lys990Arg)
c.*2897A>G (n.*2897A>G)
c.2106+182538A>G (n.2106+182538A>G)
c.619A>G
3g.184327245A>TCA355414004EIF2B5,EIF4G1c.3458A>T (p.Lys1153Ile)
c.3392A>T (p.Lys1131Ile)
c.2805A>T (n.2805A>T)
c.2864A>T (p.Lys955Ile)
c.3461A>T (p.Lys1154Ile)
c.2966A>T (p.Lys989Ile)
c.3479A>T (p.Lys1160Ile)
c.3197A>T (p.Lys1066Ile)
c.3341A>T (p.Lys1114Ile)
c.3338A>T (p.Lys1113Ile)
c.3200A>T (p.Lys1067Ile)
c.2873A>T (p.Lys958Ile)
c.2870A>T (p.Lys957Ile)
c.2969A>T (p.Lys990Ile)
c.*2897A>T (n.*2897A>T)
c.2106+182538A>T (n.2106+182538A>T)
c.619A>T
3g.184327246A>CCA355414006EIF2B5,EIF4G1c.3459A>C (p.Lys1153Asn)
c.3393A>C (p.Lys1131Asn)
c.2806A>C (n.2806A>C)
c.2865A>C (p.Lys955Asn)
c.3462A>C (p.Lys1154Asn)
c.2967A>C (p.Lys989Asn)
c.3480A>C (p.Lys1160Asn)
c.3198A>C (p.Lys1066Asn)
c.3342A>C (p.Lys1114Asn)
c.3339A>C (p.Lys1113Asn)
c.3201A>C (p.Lys1067Asn)
c.2874A>C (p.Lys958Asn)
c.2871A>C (p.Lys957Asn)
c.2970A>C (p.Lys990Asn)
c.*2898A>C (n.*2898A>C)
c.2106+182539A>C (n.2106+182539A>C)
c.620A>C
3g.184327246A>GCA437330278EIF2B5,EIF4G1c.3459A>G (p.Lys1153=)
c.3393A>G (p.Lys1131=)
c.2806A>G (n.2806A>G)
c.2865A>G (p.Lys955=)
c.3462A>G (p.Lys1154=)
c.2967A>G (p.Lys989=)
c.3480A>G (p.Lys1160=)
c.3198A>G (p.Lys1066=)
c.3342A>G (p.Lys1114=)
c.3339A>G (p.Lys1113=)
c.3201A>G (p.Lys1067=)
c.2874A>G (p.Lys958=)
c.2871A>G (p.Lys957=)
c.2970A>G (p.Lys990=)
c.*2898A>G (n.*2898A>G)
c.2106+182539A>G (n.2106+182539A>G)
c.620A>G
3g.184327246A>TCA355414008EIF2B5,EIF4G1c.3459A>T (p.Lys1153Asn)
c.3393A>T (p.Lys1131Asn)
c.2806A>T (n.2806A>T)
c.2865A>T (p.Lys955Asn)
c.3462A>T (p.Lys1154Asn)
c.2967A>T (p.Lys989Asn)
c.3480A>T (p.Lys1160Asn)
c.3198A>T (p.Lys1066Asn)
c.3342A>T (p.Lys1114Asn)
c.3339A>T (p.Lys1113Asn)
c.3201A>T (p.Lys1067Asn)
c.2874A>T (p.Lys958Asn)
c.2871A>T (p.Lys957Asn)
c.2970A>T (p.Lys990Asn)
c.*2898A>T (n.*2898A>T)
c.2106+182539A>T (n.2106+182539A>T)
c.620A>T
3g.184327247G>ACA2732817EIF2B5,EIF4G1c.3460G>A (p.Ala1154Thr)
c.3394G>A (p.Ala1132Thr)
c.2807G>A (n.2807G>A)
c.2866G>A (p.Ala956Thr)
c.3463G>A (p.Ala1155Thr)
c.2968G>A (p.Ala990Thr)
c.3481G>A (p.Ala1161Thr)
c.3199G>A (p.Ala1067Thr)
c.3343G>A (p.Ala1115Thr)
c.3340G>A (p.Ala1114Thr)
c.3202G>A (p.Ala1068Thr)
c.2875G>A (p.Ala959Thr)
c.2872G>A (p.Ala958Thr)
c.2971G>A (p.Ala991Thr)
c.*2899G>A (n.*2899G>A)
c.2106+182540G>A (n.2106+182540G>A)
c.621G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.184327247G>CCA355414012EIF2B5,EIF4G1c.3460G>C (p.Ala1154Pro)
c.3394G>C (p.Ala1132Pro)
c.2807G>C (n.2807G>C)
c.2866G>C (p.Ala956Pro)
c.3463G>C (p.Ala1155Pro)
c.2968G>C (p.Ala990Pro)
c.3481G>C (p.Ala1161Pro)
c.3199G>C (p.Ala1067Pro)
c.3343G>C (p.Ala1115Pro)
c.3340G>C (p.Ala1114Pro)
c.3202G>C (p.Ala1068Pro)
c.2875G>C (p.Ala959Pro)
c.2872G>C (p.Ala958Pro)
c.2971G>C (p.Ala991Pro)
c.*2899G>C (n.*2899G>C)
c.2106+182540G>C (n.2106+182540G>C)
c.621G>C
 gnomAD v4
3g.184327247G=CA1425958141EIF2B5,EIF4G1c.3460G= (p.Ala1154=)
c.3394G= (p.Ala1132=)
c.2807G= (n.2807G=)
c.2866G= (p.Ala956=)
c.3463G= (p.Ala1155=)
c.2968G= (p.Ala990=)
c.3481G= (p.Ala1161=)
c.3199G= (p.Ala1067=)
c.3343G= (p.Ala1115=)
c.3340G= (p.Ala1114=)
c.3202G= (p.Ala1068=)
c.2875G= (p.Ala959=)
c.2872G= (p.Ala958=)
c.2971G= (p.Ala991=)
c.*2899G= (n.*2899G=)
c.2106+182540G= (n.2106+182540G=)
c.621G=
3g.184327247G>TCA355414013EIF2B5,EIF4G1c.3460G>T (p.Ala1154Ser)
c.3394G>T (p.Ala1132Ser)
c.2807G>T (n.2807G>T)
c.2866G>T (p.Ala956Ser)
c.3463G>T (p.Ala1155Ser)
c.2968G>T (p.Ala990Ser)
c.3481G>T (p.Ala1161Ser)
c.3199G>T (p.Ala1067Ser)
c.3343G>T (p.Ala1115Ser)
c.3340G>T (p.Ala1114Ser)
c.3202G>T (p.Ala1068Ser)
c.2875G>T (p.Ala959Ser)
c.2872G>T (p.Ala958Ser)
c.2971G>T (p.Ala991Ser)
c.*2899G>T (n.*2899G>T)
c.2106+182540G>T (n.2106+182540G>T)
c.621G>T
 COSMIC
3g.184327248C>ACA355414016EIF2B5,EIF4G1c.3461C>A (p.Ala1154Asp)
c.3395C>A (p.Ala1132Asp)
c.2808C>A (n.2808C>A)
c.2867C>A (p.Ala956Asp)
c.3464C>A (p.Ala1155Asp)
c.2969C>A (p.Ala990Asp)
c.3482C>A (p.Ala1161Asp)
c.3200C>A (p.Ala1067Asp)
c.3344C>A (p.Ala1115Asp)
c.3341C>A (p.Ala1114Asp)
c.3203C>A (p.Ala1068Asp)
c.2876C>A (p.Ala959Asp)
c.2873C>A (p.Ala958Asp)
c.2972C>A (p.Ala991Asp)
c.*2900C>A (n.*2900C>A)
c.2106+182541C>A (n.2106+182541C>A)
c.622C>A
 COSMIC
3g.184327248C=CA1425958146EIF2B5,EIF4G1c.3461C= (p.Ala1154=)
c.3395C= (p.Ala1132=)
c.2808C= (n.2808C=)
c.2867C= (p.Ala956=)
c.3464C= (p.Ala1155=)
c.2969C= (p.Ala990=)
c.3482C= (p.Ala1161=)
c.3200C= (p.Ala1067=)
c.3344C= (p.Ala1115=)
c.3341C= (p.Ala1114=)
c.3203C= (p.Ala1068=)
c.2876C= (p.Ala959=)
c.2873C= (p.Ala958=)
c.2972C= (p.Ala991=)
c.*2900C= (n.*2900C=)
c.2106+182541C= (n.2106+182541C=)
c.622C=
3g.184327248C>GCA355414018EIF2B5,EIF4G1c.3461C>G (p.Ala1154Gly)
c.3395C>G (p.Ala1132Gly)
c.2808C>G (n.2808C>G)
c.2867C>G (p.Ala956Gly)
c.3464C>G (p.Ala1155Gly)
c.2969C>G (p.Ala990Gly)
c.3482C>G (p.Ala1161Gly)
c.3200C>G (p.Ala1067Gly)
c.3344C>G (p.Ala1115Gly)
c.3341C>G (p.Ala1114Gly)
c.3203C>G (p.Ala1068Gly)
c.2876C>G (p.Ala959Gly)
c.2873C>G (p.Ala958Gly)
c.2972C>G (p.Ala991Gly)
c.*2900C>G (n.*2900C>G)
c.2106+182541C>G (n.2106+182541C>G)
c.622C>G
3g.184327248C>TCA88867464EIF2B5,EIF4G1c.3461C>T (p.Ala1154Val)
c.3395C>T (p.Ala1132Val)
c.2808C>T (n.2808C>T)
c.2867C>T (p.Ala956Val)
c.3464C>T (p.Ala1155Val)
c.2969C>T (p.Ala990Val)
c.3482C>T (p.Ala1161Val)
c.3200C>T (p.Ala1067Val)
c.3344C>T (p.Ala1115Val)
c.3341C>T (p.Ala1114Val)
c.3203C>T (p.Ala1068Val)
c.2876C>T (p.Ala959Val)
c.2873C>T (p.Ala958Val)
c.2972C>T (p.Ala991Val)
c.*2900C>T (n.*2900C>T)
c.2106+182541C>T (n.2106+182541C>T)
c.622C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
3g.184327249T>ACA437330279EIF2B5,EIF4G1c.3462T>A (p.Ala1154=)
c.3396T>A (p.Ala1132=)
c.2809T>A (n.2809T>A)
c.2868T>A (p.Ala956=)
c.3465T>A (p.Ala1155=)
c.2970T>A (p.Ala990=)
c.3483T>A (p.Ala1161=)
c.3201T>A (p.Ala1067=)
c.3345T>A (p.Ala1115=)
c.3342T>A (p.Ala1114=)
c.3204T>A (p.Ala1068=)
c.2877T>A (p.Ala959=)
c.2874T>A (p.Ala958=)
c.2973T>A (p.Ala991=)
c.*2901T>A (n.*2901T>A)
c.2106+182542T>A (n.2106+182542T>A)
c.623T>A
 dbSNP gnomAD v2 gnomAD v4
3g.184327249T>CCA2732818EIF2B5,EIF4G1c.3462T>C (p.Ala1154=)
c.3396T>C (p.Ala1132=)
c.2809T>C (n.2809T>C)
c.2868T>C (p.Ala956=)
c.3465T>C (p.Ala1155=)
c.2970T>C (p.Ala990=)
c.3483T>C (p.Ala1161=)
c.3201T>C (p.Ala1067=)
c.3345T>C (p.Ala1115=)
c.3342T>C (p.Ala1114=)
c.3204T>C (p.Ala1068=)
c.2877T>C (p.Ala959=)
c.2874T>C (p.Ala958=)
c.2973T>C (p.Ala991=)
c.*2901T>C (n.*2901T>C)
c.2106+182542T>C (n.2106+182542T>C)
c.623T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.184327249T>GCA437330280EIF2B5,EIF4G1c.3462T>G (p.Ala1154=)
c.3396T>G (p.Ala1132=)
c.2809T>G (n.2809T>G)
c.2868T>G (p.Ala956=)
c.3465T>G (p.Ala1155=)
c.2970T>G (p.Ala990=)
c.3483T>G (p.Ala1161=)
c.3201T>G (p.Ala1067=)
c.3345T>G (p.Ala1115=)
c.3342T>G (p.Ala1114=)
c.3204T>G (p.Ala1068=)
c.2877T>G (p.Ala959=)
c.2874T>G (p.Ala958=)
c.2973T>G (p.Ala991=)
c.*2901T>G (n.*2901T>G)
c.2106+182542T>G (n.2106+182542T>G)
c.623T>G
3g.184327249T=CA1425958152EIF2B5,EIF4G1c.3462T= (p.Ala1154=)
c.3396T= (p.Ala1132=)
c.2809T= (n.2809T=)
c.2868T= (p.Ala956=)
c.3465T= (p.Ala1155=)
c.2970T= (p.Ala990=)
c.3483T= (p.Ala1161=)
c.3201T= (p.Ala1067=)
c.3345T= (p.Ala1115=)
c.3342T= (p.Ala1114=)
c.3204T= (p.Ala1068=)
c.2877T= (p.Ala959=)
c.2874T= (p.Ala958=)
c.2973T= (p.Ala991=)
c.*2901T= (n.*2901T=)
c.2106+182542T= (n.2106+182542T=)
c.623T=
3g.184327249_184327258delinsTGGAGACCGACA1425958154EIF2B5,EIF4G1c.3462_3471delinsTGGAGACCGA (p.Ala1154=)
c.3396_3405delinsTGGAGACCGA (p.Ala1132=)
c.2809_2818delinsTGGAGACCGA (n.2809_2818delinsTGGAGACCGA)
c.2868_2877delinsTGGAGACCGA (p.Ala956=)
c.3465_3474delinsTGGAGACCGA (p.Ala1155=)
c.2970_2979delinsTGGAGACCGA (p.Ala990=)
c.3483_3492delinsTGGAGACCGA (p.Ala1161=)
c.3201_3210delinsTGGAGACCGA (p.Ala1067=)
c.3345_3354delinsTGGAGACCGA (p.Ala1115=)
c.3342_3351delinsTGGAGACCGA (p.Ala1114=)
c.3204_3213delinsTGGAGACCGA (p.Ala1068=)
c.2877_2886delinsTGGAGACCGA (p.Ala959=)
c.2874_2883delinsTGGAGACCGA (p.Ala958=)
c.2973_2982delinsTGGAGACCGA (p.Ala991=)
c.*2901_*2910delinsTGGAGACCGA (n.*2901_*2910delinsTGGAGACCGA)
c.2106+182542_2106+182551delinsTGGAGACCGA (n.2106+182542_2106+182551delinsTGGAGACCGA)
c.623_632delinsTGGAGACCGA
3g.184327250G>ACA355414023EIF2B5,EIF4G1c.3463G>A (p.Gly1155Arg)
c.3397G>A (p.Gly1133Arg)
c.2810G>A (n.2810G>A)
c.2869G>A (p.Gly957Arg)
c.3466G>A (p.Gly1156Arg)
c.2971G>A (p.Gly991Arg)
c.3484G>A (p.Gly1162Arg)
c.3202G>A (p.Gly1068Arg)
c.3346G>A (p.Gly1116Arg)
c.3343G>A (p.Gly1115Arg)
c.3205G>A (p.Gly1069Arg)
c.2878G>A (p.Gly960Arg)
c.2875G>A (p.Gly959Arg)
c.2974G>A (p.Gly992Arg)
c.*2902G>A (n.*2902G>A)
c.2106+182543G>A (n.2106+182543G>A)
c.624G>A
3g.184327250G>CCA355414026EIF2B5,EIF4G1c.3463G>C (p.Gly1155Arg)
c.3397G>C (p.Gly1133Arg)
c.2810G>C (n.2810G>C)
c.2869G>C (p.Gly957Arg)
c.3466G>C (p.Gly1156Arg)
c.2971G>C (p.Gly991Arg)
c.3484G>C (p.Gly1162Arg)
c.3202G>C (p.Gly1068Arg)
c.3346G>C (p.Gly1116Arg)
c.3343G>C (p.Gly1115Arg)
c.3205G>C (p.Gly1069Arg)
c.2878G>C (p.Gly960Arg)
c.2875G>C (p.Gly959Arg)
c.2974G>C (p.Gly992Arg)
c.*2902G>C (n.*2902G>C)
c.2106+182543G>C (n.2106+182543G>C)
c.624G>C
3g.184327250G>TCA355414028EIF2B5,EIF4G1c.3463G>T (p.Gly1155Ter)
c.3397G>T (p.Gly1133Ter)
c.2810G>T (n.2810G>T)
c.2869G>T (p.Gly957Ter)
c.3466G>T (p.Gly1156Ter)
c.2971G>T (p.Gly991Ter)
c.3484G>T (p.Gly1162Ter)
c.3202G>T (p.Gly1068Ter)
c.3346G>T (p.Gly1116Ter)
c.3343G>T (p.Gly1115Ter)
c.3205G>T (p.Gly1069Ter)
c.2878G>T (p.Gly960Ter)
c.2875G>T (p.Gly959Ter)
c.2974G>T (p.Gly992Ter)
c.*2902G>T (n.*2902G>T)
c.2106+182543G>T (n.2106+182543G>T)
c.624G>T
3g.184327258_184327266delCA2732819EIF2B5,EIF4G1c.3471_3479del (p.Gly1158_Arg1160del)
c.3405_3413del (p.Gly1136_Arg1138del)
c.2818_2826del (n.2818_2826del)
c.2877_2885del (p.Gly960_Arg962del)
c.3474_3482del (p.Gly1159_Arg1161del)
c.2979_2987del (p.Gly994_Arg996del)
c.3492_3500del (p.Gly1165_Arg1167del)
c.3210_3218del (p.Gly1071_Arg1073del)
c.3354_3362del (p.Gly1119_Arg1121del)
c.3351_3359del (p.Gly1118_Arg1120del)
c.3213_3221del (p.Gly1072_Arg1074del)
c.2886_2894del (p.Gly963_Arg965del)
c.2883_2891del (p.Gly962_Arg964del)
c.2982_2990del (p.Gly995_Arg997del)
c.*2910_*2918del (n.*2910_*2918del)
c.2106+182551_2106+182559del (n.2106+182551_2106+182559del)
c.632_640del
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.184327251G>ACA355414032EIF2B5,EIF4G1c.3464G>A (p.Gly1155Glu)
c.3398G>A (p.Gly1133Glu)
c.2811G>A (n.2811G>A)
c.2870G>A (p.Gly957Glu)
c.3467G>A (p.Gly1156Glu)
c.2972G>A (p.Gly991Glu)
c.3485G>A (p.Gly1162Glu)
c.3203G>A (p.Gly1068Glu)
c.3347G>A (p.Gly1116Glu)
c.3344G>A (p.Gly1115Glu)
c.3206G>A (p.Gly1069Glu)
c.2879G>A (p.Gly960Glu)
c.2876G>A (p.Gly959Glu)
c.2975G>A (p.Gly992Glu)
c.*2903G>A (n.*2903G>A)
c.2106+182544G>A (n.2106+182544G>A)
c.625G>A
3g.184327251G>CCA355414036EIF2B5,EIF4G1c.3464G>C (p.Gly1155Ala)
c.3398G>C (p.Gly1133Ala)
c.2811G>C (n.2811G>C)
c.2870G>C (p.Gly957Ala)
c.3467G>C (p.Gly1156Ala)
c.2972G>C (p.Gly991Ala)
c.3485G>C (p.Gly1162Ala)
c.3203G>C (p.Gly1068Ala)
c.3347G>C (p.Gly1116Ala)
c.3344G>C (p.Gly1115Ala)
c.3206G>C (p.Gly1069Ala)
c.2879G>C (p.Gly960Ala)
c.2876G>C (p.Gly959Ala)
c.2975G>C (p.Gly992Ala)
c.*2903G>C (n.*2903G>C)
c.2106+182544G>C (n.2106+182544G>C)
c.625G>C
3g.184327251G>TCA355414039EIF2B5,EIF4G1c.3464G>T (p.Gly1155Val)
c.3398G>T (p.Gly1133Val)
c.2811G>T (n.2811G>T)
c.2870G>T (p.Gly957Val)
c.3467G>T (p.Gly1156Val)
c.2972G>T (p.Gly991Val)
c.3485G>T (p.Gly1162Val)
c.3203G>T (p.Gly1068Val)
c.3347G>T (p.Gly1116Val)
c.3344G>T (p.Gly1115Val)
c.3206G>T (p.Gly1069Val)
c.2879G>T (p.Gly960Val)
c.2876G>T (p.Gly959Val)
c.2975G>T (p.Gly992Val)
c.*2903G>T (n.*2903G>T)
c.2106+182544G>T (n.2106+182544G>T)
c.625G>T
3g.184327252A>CCA437330282EIF2B5,EIF4G1c.3465A>C (p.Gly1155=)
c.3399A>C (p.Gly1133=)
c.2812A>C (n.2812A>C)
c.2871A>C (p.Gly957=)
c.3468A>C (p.Gly1156=)
c.2973A>C (p.Gly991=)
c.3486A>C (p.Gly1162=)
c.3204A>C (p.Gly1068=)
c.3348A>C (p.Gly1116=)
c.3345A>C (p.Gly1115=)
c.3207A>C (p.Gly1069=)
c.2880A>C (p.Gly960=)
c.2877A>C (p.Gly959=)
c.2976A>C (p.Gly992=)
c.*2904A>C (n.*2904A>C)
c.2106+182545A>C (n.2106+182545A>C)
c.626A>C
3g.184327252A>GCA437330283EIF2B5,EIF4G1c.3465A>G (p.Gly1155=)
c.3399A>G (p.Gly1133=)
c.2812A>G (n.2812A>G)
c.2871A>G (p.Gly957=)
c.3468A>G (p.Gly1156=)
c.2973A>G (p.Gly991=)
c.3486A>G (p.Gly1162=)
c.3204A>G (p.Gly1068=)
c.3348A>G (p.Gly1116=)
c.3345A>G (p.Gly1115=)
c.3207A>G (p.Gly1069=)
c.2880A>G (p.Gly960=)
c.2877A>G (p.Gly959=)
c.2976A>G (p.Gly992=)
c.*2904A>G (n.*2904A>G)
c.2106+182545A>G (n.2106+182545A>G)
c.626A>G
3g.184327252A>TCA437330284EIF2B5,EIF4G1c.3465A>T (p.Gly1155=)
c.3399A>T (p.Gly1133=)
c.2812A>T (n.2812A>T)
c.2871A>T (p.Gly957=)
c.3468A>T (p.Gly1156=)
c.2973A>T (p.Gly991=)
c.3486A>T (p.Gly1162=)
c.3204A>T (p.Gly1068=)
c.3348A>T (p.Gly1116=)
c.3345A>T (p.Gly1115=)
c.3207A>T (p.Gly1069=)
c.2880A>T (p.Gly960=)
c.2877A>T (p.Gly959=)
c.2976A>T (p.Gly992=)
c.*2904A>T (n.*2904A>T)
c.2106+182545A>T (n.2106+182545A>T)
c.626A>T
 COSMIC
3g.184327253G>ACA355414042EIF2B5,EIF4G1c.3466G>A (p.Asp1156Asn)
c.3400G>A (p.Asp1134Asn)
c.2813G>A (n.2813G>A)
c.2872G>A (p.Asp958Asn)
c.3469G>A (p.Asp1157Asn)
c.2974G>A (p.Asp992Asn)
c.3487G>A (p.Asp1163Asn)
c.3205G>A (p.Asp1069Asn)
c.3349G>A (p.Asp1117Asn)
c.3346G>A (p.Asp1116Asn)
c.3208G>A (p.Asp1070Asn)
c.2881G>A (p.Asp961Asn)
c.2878G>A (p.Asp960Asn)
c.2977G>A (p.Asp993Asn)
c.*2905G>A (n.*2905G>A)
c.2106+182546G>A (n.2106+182546G>A)
c.627G>A
 COSMIC
3g.184327253G>CCA355414043EIF2B5,EIF4G1c.3466G>C (p.Asp1156His)
c.3400G>C (p.Asp1134His)
c.2813G>C (n.2813G>C)
c.2872G>C (p.Asp958His)
c.3469G>C (p.Asp1157His)
c.2974G>C (p.Asp992His)
c.3487G>C (p.Asp1163His)
c.3205G>C (p.Asp1069His)
c.3349G>C (p.Asp1117His)
c.3346G>C (p.Asp1116His)
c.3208G>C (p.Asp1070His)
c.2881G>C (p.Asp961His)
c.2878G>C (p.Asp960His)
c.2977G>C (p.Asp993His)
c.*2905G>C (n.*2905G>C)
c.2106+182546G>C (n.2106+182546G>C)
c.627G>C
3g.184327253G>TCA355414044EIF2B5,EIF4G1c.3466G>T (p.Asp1156Tyr)
c.3400G>T (p.Asp1134Tyr)
c.2813G>T (n.2813G>T)
c.2872G>T (p.Asp958Tyr)
c.3469G>T (p.Asp1157Tyr)
c.2974G>T (p.Asp992Tyr)
c.3487G>T (p.Asp1163Tyr)
c.3205G>T (p.Asp1069Tyr)
c.3349G>T (p.Asp1117Tyr)
c.3346G>T (p.Asp1116Tyr)
c.3208G>T (p.Asp1070Tyr)
c.2881G>T (p.Asp961Tyr)
c.2878G>T (p.Asp960Tyr)
c.2977G>T (p.Asp993Tyr)
c.*2905G>T (n.*2905G>T)
c.2106+182546G>T (n.2106+182546G>T)
c.627G>T
3g.184327254A>CCA355414045EIF2B5,EIF4G1c.3467A>C (p.Asp1156Ala)
c.3401A>C (p.Asp1134Ala)
c.2814A>C (n.2814A>C)
c.2873A>C (p.Asp958Ala)
c.3470A>C (p.Asp1157Ala)
c.2975A>C (p.Asp992Ala)
c.3488A>C (p.Asp1163Ala)
c.3206A>C (p.Asp1069Ala)
c.3350A>C (p.Asp1117Ala)
c.3347A>C (p.Asp1116Ala)
c.3209A>C (p.Asp1070Ala)
c.2882A>C (p.Asp961Ala)
c.2879A>C (p.Asp960Ala)
c.2978A>C (p.Asp993Ala)
c.*2906A>C (n.*2906A>C)
c.2106+182547A>C (n.2106+182547A>C)
c.628A>C
3g.184327254A>GCA355414048EIF2B5,EIF4G1c.3467A>G (p.Asp1156Gly)
c.3401A>G (p.Asp1134Gly)
c.2814A>G (n.2814A>G)
c.2873A>G (p.Asp958Gly)
c.3470A>G (p.Asp1157Gly)
c.2975A>G (p.Asp992Gly)
c.3488A>G (p.Asp1163Gly)
c.3206A>G (p.Asp1069Gly)
c.3350A>G (p.Asp1117Gly)
c.3347A>G (p.Asp1116Gly)
c.3209A>G (p.Asp1070Gly)
c.2882A>G (p.Asp961Gly)
c.2879A>G (p.Asp960Gly)
c.2978A>G (p.Asp993Gly)
c.*2906A>G (n.*2906A>G)
c.2106+182547A>G (n.2106+182547A>G)
c.628A>G
 gnomAD v4
3g.184327254A>TCA355414051EIF2B5,EIF4G1c.3467A>T (p.Asp1156Val)
c.3401A>T (p.Asp1134Val)
c.2814A>T (n.2814A>T)
c.2873A>T (p.Asp958Val)
c.3470A>T (p.Asp1157Val)
c.2975A>T (p.Asp992Val)
c.3488A>T (p.Asp1163Val)
c.3206A>T (p.Asp1069Val)
c.3350A>T (p.Asp1117Val)
c.3347A>T (p.Asp1116Val)
c.3209A>T (p.Asp1070Val)
c.2882A>T (p.Asp961Val)
c.2879A>T (p.Asp960Val)
c.2978A>T (p.Asp993Val)
c.*2906A>T (n.*2906A>T)
c.2106+182547A>T (n.2106+182547A>T)
c.628A>T
3g.184327255C>ACA355414064EIF2B5,EIF4G1c.3468C>A (p.Asp1156Glu)
c.3402C>A (p.Asp1134Glu)
c.2815C>A (n.2815C>A)
c.2874C>A (p.Asp958Glu)
c.3471C>A (p.Asp1157Glu)
c.2976C>A (p.Asp992Glu)
c.3489C>A (p.Asp1163Glu)
c.3207C>A (p.Asp1069Glu)
c.3351C>A (p.Asp1117Glu)
c.3348C>A (p.Asp1116Glu)
c.3210C>A (p.Asp1070Glu)
c.2883C>A (p.Asp961Glu)
c.2880C>A (p.Asp960Glu)
c.2979C>A (p.Asp993Glu)
c.*2907C>A (n.*2907C>A)
c.2106+182548C>A (n.2106+182548C>A)
c.629C>A
3g.184327255C>GCA355414054EIF2B5,EIF4G1c.3468C>G (p.Asp1156Glu)
c.3402C>G (p.Asp1134Glu)
c.2815C>G (n.2815C>G)
c.2874C>G (p.Asp958Glu)
c.3471C>G (p.Asp1157Glu)
c.2976C>G (p.Asp992Glu)
c.3489C>G (p.Asp1163Glu)
c.3207C>G (p.Asp1069Glu)
c.3351C>G (p.Asp1117Glu)
c.3348C>G (p.Asp1116Glu)
c.3210C>G (p.Asp1070Glu)
c.2883C>G (p.Asp961Glu)
c.2880C>G (p.Asp960Glu)
c.2979C>G (p.Asp993Glu)
c.*2907C>G (n.*2907C>G)
c.2106+182548C>G (n.2106+182548C>G)
c.629C>G
3g.184327255C>TCA437330288EIF2B5,EIF4G1c.3468C>T (p.Asp1156=)
c.3402C>T (p.Asp1134=)
c.2815C>T (n.2815C>T)
c.2874C>T (p.Asp958=)
c.3471C>T (p.Asp1157=)
c.2976C>T (p.Asp992=)
c.3489C>T (p.Asp1163=)
c.3207C>T (p.Asp1069=)
c.3351C>T (p.Asp1117=)
c.3348C>T (p.Asp1116=)
c.3210C>T (p.Asp1070=)
c.2883C>T (p.Asp961=)
c.2880C>T (p.Asp960=)
c.2979C>T (p.Asp993=)
c.*2907C>T (n.*2907C>T)
c.2106+182548C>T (n.2106+182548C>T)
c.629C>T
3g.184327256C>ACA437330289EIF2B5,EIF4G1c.3469C>A (p.Arg1157=)
c.3403C>A (p.Arg1135=)
c.2816C>A (n.2816C>A)
c.2875C>A (p.Arg959=)
c.3472C>A (p.Arg1158=)
c.2977C>A (p.Arg993=)
c.3490C>A (p.Arg1164=)
c.3208C>A (p.Arg1070=)
c.3352C>A (p.Arg1118=)
c.3349C>A (p.Arg1117=)
c.3211C>A (p.Arg1071=)
c.2884C>A (p.Arg962=)
c.2881C>A (p.Arg961=)
c.2980C>A (p.Arg994=)
c.*2908C>A (n.*2908C>A)
c.2106+182549C>A (n.2106+182549C>A)
c.630C>A
3g.184327256C=CA1425958158EIF2B5,EIF4G1c.3469C= (p.Arg1157=)
c.3403C= (p.Arg1135=)
c.2816C= (n.2816C=)
c.2875C= (p.Arg959=)
c.3472C= (p.Arg1158=)
c.2977C= (p.Arg993=)
c.3490C= (p.Arg1164=)
c.3208C= (p.Arg1070=)
c.3352C= (p.Arg1118=)
c.3349C= (p.Arg1117=)
c.3211C= (p.Arg1071=)
c.2884C= (p.Arg962=)
c.2881C= (p.Arg961=)
c.2980C= (p.Arg994=)
c.*2908C= (n.*2908C=)
c.2106+182549C= (n.2106+182549C=)
c.630C=
3g.184327256C>GCA2732820EIF2B5,EIF4G1c.3469C>G (p.Arg1157Gly)
c.3403C>G (p.Arg1135Gly)
c.2816C>G (n.2816C>G)
c.2875C>G (p.Arg959Gly)
c.3472C>G (p.Arg1158Gly)
c.2977C>G (p.Arg993Gly)
c.3490C>G (p.Arg1164Gly)
c.3208C>G (p.Arg1070Gly)
c.3352C>G (p.Arg1118Gly)
c.3349C>G (p.Arg1117Gly)
c.3211C>G (p.Arg1071Gly)
c.2884C>G (p.Arg962Gly)
c.2881C>G (p.Arg961Gly)
c.2980C>G (p.Arg994Gly)
c.*2908C>G (n.*2908C>G)
c.2106+182549C>G (n.2106+182549C>G)
c.630C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.184327256C>TCA355414069EIF2B5,EIF4G1c.3469C>T (p.Arg1157Ter)
c.3403C>T (p.Arg1135Ter)
c.2816C>T (n.2816C>T)
c.2875C>T (p.Arg959Ter)
c.3472C>T (p.Arg1158Ter)
c.2977C>T (p.Arg993Ter)
c.3490C>T (p.Arg1164Ter)
c.3208C>T (p.Arg1070Ter)
c.3352C>T (p.Arg1118Ter)
c.3349C>T (p.Arg1117Ter)
c.3211C>T (p.Arg1071Ter)
c.2884C>T (p.Arg962Ter)
c.2881C>T (p.Arg961Ter)
c.2980C>T (p.Arg994Ter)
c.*2908C>T (n.*2908C>T)
c.2106+182549C>T (n.2106+182549C>T)
c.630C>T
3g.184327257G>ACA355414074EIF2B5,EIF4G1c.3470G>A (p.Arg1157Gln)
c.3404G>A (p.Arg1135Gln)
c.2817G>A (n.2817G>A)
c.2876G>A (p.Arg959Gln)
c.3473G>A (p.Arg1158Gln)
c.2978G>A (p.Arg993Gln)
c.3491G>A (p.Arg1164Gln)
c.3209G>A (p.Arg1070Gln)
c.3353G>A (p.Arg1118Gln)
c.3350G>A (p.Arg1117Gln)
c.3212G>A (p.Arg1071Gln)
c.2885G>A (p.Arg962Gln)
c.2882G>A (p.Arg961Gln)
c.2981G>A (p.Arg994Gln)
c.*2909G>A (n.*2909G>A)
c.2106+182550G>A (n.2106+182550G>A)
c.631G>A
 dbSNP gnomAD v4
3g.184327257G>CCA355414076EIF2B5,EIF4G1c.3470G>C (p.Arg1157Pro)
c.3404G>C (p.Arg1135Pro)
c.2817G>C (n.2817G>C)
c.2876G>C (p.Arg959Pro)
c.3473G>C (p.Arg1158Pro)
c.2978G>C (p.Arg993Pro)
c.3491G>C (p.Arg1164Pro)
c.3209G>C (p.Arg1070Pro)
c.3353G>C (p.Arg1118Pro)
c.3350G>C (p.Arg1117Pro)
c.3212G>C (p.Arg1071Pro)
c.2885G>C (p.Arg962Pro)
c.2882G>C (p.Arg961Pro)
c.2981G>C (p.Arg994Pro)
c.*2909G>C (n.*2909G>C)
c.2106+182550G>C (n.2106+182550G>C)
c.631G>C
 dbSNP
3g.184327257G=CA1425958162EIF2B5,EIF4G1c.3470G= (p.Arg1157=)
c.3404G= (p.Arg1135=)
c.2817G= (n.2817G=)
c.2876G= (p.Arg959=)
c.3473G= (p.Arg1158=)
c.2978G= (p.Arg993=)
c.3491G= (p.Arg1164=)
c.3209G= (p.Arg1070=)
c.3353G= (p.Arg1118=)
c.3350G= (p.Arg1117=)
c.3212G= (p.Arg1071=)
c.2885G= (p.Arg962=)
c.2882G= (p.Arg961=)
c.2981G= (p.Arg994=)
c.*2909G= (n.*2909G=)
c.2106+182550G= (n.2106+182550G=)
c.631G=
3g.184327257G>TCA355414079EIF2B5,EIF4G1c.3470G>T (p.Arg1157Leu)
c.3404G>T (p.Arg1135Leu)
c.2817G>T (n.2817G>T)
c.2876G>T (p.Arg959Leu)
c.3473G>T (p.Arg1158Leu)
c.2978G>T (p.Arg993Leu)
c.3491G>T (p.Arg1164Leu)
c.3209G>T (p.Arg1070Leu)
c.3353G>T (p.Arg1118Leu)
c.3350G>T (p.Arg1117Leu)
c.3212G>T (p.Arg1071Leu)
c.2885G>T (p.Arg962Leu)
c.2882G>T (p.Arg961Leu)
c.2981G>T (p.Arg994Leu)
c.*2909G>T (n.*2909G>T)
c.2106+182550G>T (n.2106+182550G>T)
c.631G>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.184327258A>CCA437330292EIF2B5,EIF4G1c.3471A>C (p.Arg1157=)
c.3405A>C (p.Arg1135=)
c.2818A>C (n.2818A>C)
c.2877A>C (p.Arg959=)
c.3474A>C (p.Arg1158=)
c.2979A>C (p.Arg993=)
c.3492A>C (p.Arg1164=)
c.3210A>C (p.Arg1070=)
c.3354A>C (p.Arg1118=)
c.3351A>C (p.Arg1117=)
c.3213A>C (p.Arg1071=)
c.2886A>C (p.Arg962=)
c.2883A>C (p.Arg961=)
c.2982A>C (p.Arg994=)
c.*2910A>C (n.*2910A>C)
c.2106+182551A>C (n.2106+182551A>C)
c.632A>C
3g.184327258A>GCA437330291EIF2B5,EIF4G1c.3471A>G (p.Arg1157=)
c.3405A>G (p.Arg1135=)
c.2818A>G (n.2818A>G)
c.2877A>G (p.Arg959=)
c.3474A>G (p.Arg1158=)
c.2979A>G (p.Arg993=)
c.3492A>G (p.Arg1164=)
c.3210A>G (p.Arg1070=)
c.3354A>G (p.Arg1118=)
c.3351A>G (p.Arg1117=)
c.3213A>G (p.Arg1071=)
c.2886A>G (p.Arg962=)
c.2883A>G (p.Arg961=)
c.2982A>G (p.Arg994=)
c.*2910A>G (n.*2910A>G)
c.2106+182551A>G (n.2106+182551A>G)
c.632A>G
3g.184327258A>TCA437330290EIF2B5,EIF4G1c.3471A>T (p.Arg1157=)
c.3405A>T (p.Arg1135=)
c.2818A>T (n.2818A>T)
c.2877A>T (p.Arg959=)
c.3474A>T (p.Arg1158=)
c.2979A>T (p.Arg993=)
c.3492A>T (p.Arg1164=)
c.3210A>T (p.Arg1070=)
c.3354A>T (p.Arg1118=)
c.3351A>T (p.Arg1117=)
c.3213A>T (p.Arg1071=)
c.2886A>T (p.Arg962=)
c.2883A>T (p.Arg961=)
c.2982A>T (p.Arg994=)
c.*2910A>T (n.*2910A>T)
c.2106+182551A>T (n.2106+182551A>T)
c.632A>T
 gnomAD v4
3g.184327259G>ACA355414084EIF2B5,EIF4G1c.3472G>A (p.Gly1158Arg)
c.3406G>A (p.Gly1136Arg)
c.2819G>A (n.2819G>A)
c.2878G>A (p.Gly960Arg)
c.3475G>A (p.Gly1159Arg)
c.2980G>A (p.Gly994Arg)
c.3493G>A (p.Gly1165Arg)
c.3211G>A (p.Gly1071Arg)
c.3355G>A (p.Gly1119Arg)
c.3352G>A (p.Gly1118Arg)
c.3214G>A (p.Gly1072Arg)
c.2887G>A (p.Gly963Arg)
c.2884G>A (p.Gly962Arg)
c.2983G>A (p.Gly995Arg)
c.*2911G>A (n.*2911G>A)
c.2106+182552G>A (n.2106+182552G>A)
c.633G>A
 dbSNP gnomAD v2 gnomAD v4
3g.184327259G>CCA355414087EIF2B5,EIF4G1c.3472G>C (p.Gly1158Arg)
c.3406G>C (p.Gly1136Arg)
c.2819G>C (n.2819G>C)
c.2878G>C (p.Gly960Arg)
c.3475G>C (p.Gly1159Arg)
c.2980G>C (p.Gly994Arg)
c.3493G>C (p.Gly1165Arg)
c.3211G>C (p.Gly1071Arg)
c.3355G>C (p.Gly1119Arg)
c.3352G>C (p.Gly1118Arg)
c.3214G>C (p.Gly1072Arg)
c.2887G>C (p.Gly963Arg)
c.2884G>C (p.Gly962Arg)
c.2983G>C (p.Gly995Arg)
c.*2911G>C (n.*2911G>C)
c.2106+182552G>C (n.2106+182552G>C)
c.633G>C
3g.184327259G=CA1425958165EIF2B5,EIF4G1c.3472G= (p.Gly1158=)
c.3406G= (p.Gly1136=)
c.2819G= (n.2819G=)
c.2878G= (p.Gly960=)
c.3475G= (p.Gly1159=)
c.2980G= (p.Gly994=)
c.3493G= (p.Gly1165=)
c.3211G= (p.Gly1071=)
c.3355G= (p.Gly1119=)
c.3352G= (p.Gly1118=)
c.3214G= (p.Gly1072=)
c.2887G= (p.Gly963=)
c.2884G= (p.Gly962=)
c.2983G= (p.Gly995=)
c.*2911G= (n.*2911G=)
c.2106+182552G= (n.2106+182552G=)
c.633G=
3g.184327259G>TCA355414092EIF2B5,EIF4G1c.3472G>T (p.Gly1158Ter)
c.3406G>T (p.Gly1136Ter)
c.2819G>T (n.2819G>T)
c.2878G>T (p.Gly960Ter)
c.3475G>T (p.Gly1159Ter)
c.2980G>T (p.Gly994Ter)
c.3493G>T (p.Gly1165Ter)
c.3211G>T (p.Gly1071Ter)
c.3355G>T (p.Gly1119Ter)
c.3352G>T (p.Gly1118Ter)
c.3214G>T (p.Gly1072Ter)
c.2887G>T (p.Gly963Ter)
c.2884G>T (p.Gly962Ter)
c.2983G>T (p.Gly995Ter)
c.*2911G>T (n.*2911G>T)
c.2106+182552G>T (n.2106+182552G>T)
c.633G>T
3g.184327263_184327289delCA2759716609EIF2B5,EIF4G1c.3476_3502del (p.Asp1159_Gly1167del)
c.3410_3436del (p.Asp1137_Gly1145del)
c.2823_2849del (n.2823_2849del)
c.2882_2907del
c.3479_3505del (p.Asp1160_Gly1168del)
c.2984_3010del (p.Asp995_Gly1003del)
c.3497_3523del (p.Asp1166_Gly1174del)
c.3215_3241del (p.Asp1072_Gly1080del)
c.3359_3385del (p.Asp1120_Gly1128del)
c.3356_3382del (p.Asp1119_Gly1127del)
c.3218_3244del (p.Asp1073_Gly1081del)
c.2891_2917del (p.Asp964_Gly972del)
c.2888_2914del (p.Asp963_Gly971del)
c.2987_3013del (p.Asp996_Gly1004del)
c.*2915_*2941del (n.*2915_*2941del)
c.2106+182556_2106+182582del (n.2106+182556_2106+182582del)
c.637_663del
3g.184327260G>ACA355414097EIF2B5,EIF4G1c.3473G>A (p.Gly1158Glu)
c.3407G>A (p.Gly1136Glu)
c.2820G>A (n.2820G>A)
c.2879G>A (p.Gly960Glu)
c.3476G>A (p.Gly1159Glu)
c.2981G>A (p.Gly994Glu)
c.3494G>A (p.Gly1165Glu)
c.3212G>A (p.Gly1071Glu)
c.3356G>A (p.Gly1119Glu)
c.3353G>A (p.Gly1118Glu)
c.3215G>A (p.Gly1072Glu)
c.2888G>A (p.Gly963Glu)
c.2885G>A (p.Gly962Glu)
c.2984G>A (p.Gly995Glu)
c.*2912G>A (n.*2912G>A)
c.2106+182553G>A (n.2106+182553G>A)
c.634G>A
 gnomAD v4
3g.184327260G>CCA355414105EIF2B5,EIF4G1c.3473G>C (p.Gly1158Ala)
c.3407G>C (p.Gly1136Ala)
c.2820G>C (n.2820G>C)
c.2879G>C (p.Gly960Ala)
c.3476G>C (p.Gly1159Ala)
c.2981G>C (p.Gly994Ala)
c.3494G>C (p.Gly1165Ala)
c.3212G>C (p.Gly1071Ala)
c.3356G>C (p.Gly1119Ala)
c.3353G>C (p.Gly1118Ala)
c.3215G>C (p.Gly1072Ala)
c.2888G>C (p.Gly963Ala)
c.2885G>C (p.Gly962Ala)
c.2984G>C (p.Gly995Ala)
c.*2912G>C (n.*2912G>C)
c.2106+182553G>C (n.2106+182553G>C)
c.634G>C
3g.184327260G>TCA355414103EIF2B5,EIF4G1c.3473G>T (p.Gly1158Val)
c.3407G>T (p.Gly1136Val)
c.2820G>T (n.2820G>T)
c.2879G>T (p.Gly960Val)
c.3476G>T (p.Gly1159Val)
c.2981G>T (p.Gly994Val)
c.3494G>T (p.Gly1165Val)
c.3212G>T (p.Gly1071Val)
c.3356G>T (p.Gly1119Val)
c.3353G>T (p.Gly1118Val)
c.3215G>T (p.Gly1072Val)
c.2888G>T (p.Gly963Val)
c.2885G>T (p.Gly962Val)
c.2984G>T (p.Gly995Val)
c.*2912G>T (n.*2912G>T)
c.2106+182553G>T (n.2106+182553G>T)
c.634G>T
3g.184327261A=CA1425958169EIF2B5,EIF4G1c.3474A= (p.Gly1158=)
c.3408A= (p.Gly1136=)
c.2821A= (n.2821A=)
c.2880A= (p.Gly960=)
c.3477A= (p.Gly1159=)
c.2982A= (p.Gly994=)
c.3495A= (p.Gly1165=)
c.3213A= (p.Gly1071=)
c.3357A= (p.Gly1119=)
c.3354A= (p.Gly1118=)
c.3216A= (p.Gly1072=)
c.2889A= (p.Gly963=)
c.2886A= (p.Gly962=)
c.2985A= (p.Gly995=)
c.*2913A= (n.*2913A=)
c.2106+182554A= (n.2106+182554A=)
c.635A=
3g.184327261A>CCA437330294EIF2B5,EIF4G1c.3474A>C (p.Gly1158=)
c.3408A>C (p.Gly1136=)
c.2821A>C (n.2821A>C)
c.2880A>C (p.Gly960=)
c.3477A>C (p.Gly1159=)
c.2982A>C (p.Gly994=)
c.3495A>C (p.Gly1165=)
c.3213A>C (p.Gly1071=)
c.3357A>C (p.Gly1119=)
c.3354A>C (p.Gly1118=)
c.3216A>C (p.Gly1072=)
c.2889A>C (p.Gly963=)
c.2886A>C (p.Gly962=)
c.2985A>C (p.Gly995=)
c.*2913A>C (n.*2913A>C)
c.2106+182554A>C (n.2106+182554A>C)
c.635A>C
3g.184327261A>GCA2732821EIF2B5,EIF4G1c.3474A>G (p.Gly1158=)
c.3408A>G (p.Gly1136=)
c.2821A>G (n.2821A>G)
c.2880A>G (p.Gly960=)
c.3477A>G (p.Gly1159=)
c.2982A>G (p.Gly994=)
c.3495A>G (p.Gly1165=)
c.3213A>G (p.Gly1071=)
c.3357A>G (p.Gly1119=)
c.3354A>G (p.Gly1118=)
c.3216A>G (p.Gly1072=)
c.2889A>G (p.Gly963=)
c.2886A>G (p.Gly962=)
c.2985A>G (p.Gly995=)
c.*2913A>G (n.*2913A>G)
c.2106+182554A>G (n.2106+182554A>G)
c.635A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.184327261A>TCA437330295EIF2B5,EIF4G1c.3474A>T (p.Gly1158=)
c.3408A>T (p.Gly1136=)
c.2821A>T (n.2821A>T)
c.2880A>T (p.Gly960=)
c.3477A>T (p.Gly1159=)
c.2982A>T (p.Gly994=)
c.3495A>T (p.Gly1165=)
c.3213A>T (p.Gly1071=)
c.3357A>T (p.Gly1119=)
c.3354A>T (p.Gly1118=)
c.3216A>T (p.Gly1072=)
c.2889A>T (p.Gly963=)
c.2886A>T (p.Gly962=)
c.2985A>T (p.Gly995=)
c.*2913A>T (n.*2913A>T)
c.2106+182554A>T (n.2106+182554A>T)
c.635A>T
3g.184327262G>ACA355414116EIF2B5,EIF4G1c.3475G>A (p.Asp1159Asn)
c.3409G>A (p.Asp1137Asn)
c.2822G>A (n.2822G>A)
c.2881G>A (p.Asp961Asn)
c.3478G>A (p.Asp1160Asn)
c.2983G>A (p.Asp995Asn)
c.3496G>A (p.Asp1166Asn)
c.3214G>A (p.Asp1072Asn)
c.3358G>A (p.Asp1120Asn)
c.3355G>A (p.Asp1119Asn)
c.3217G>A (p.Asp1073Asn)
c.2890G>A (p.Asp964Asn)
c.2887G>A (p.Asp963Asn)
c.2986G>A (p.Asp996Asn)
c.*2914G>A (n.*2914G>A)
c.2106+182555G>A (n.2106+182555G>A)
c.636G>A
3g.184327262G>CCA355414118EIF2B5,EIF4G1c.3475G>C (p.Asp1159His)
c.3409G>C (p.Asp1137His)
c.2822G>C (n.2822G>C)
c.2881G>C (p.Asp961His)
c.3478G>C (p.Asp1160His)
c.2983G>C (p.Asp995His)
c.3496G>C (p.Asp1166His)
c.3214G>C (p.Asp1072His)
c.3358G>C (p.Asp1120His)
c.3355G>C (p.Asp1119His)
c.3217G>C (p.Asp1073His)
c.2890G>C (p.Asp964His)
c.2887G>C (p.Asp963His)
c.2986G>C (p.Asp996His)
c.*2914G>C (n.*2914G>C)
c.2106+182555G>C (n.2106+182555G>C)
c.636G>C
3g.184327262G>TCA355414120EIF2B5,EIF4G1c.3475G>T (p.Asp1159Tyr)
c.3409G>T (p.Asp1137Tyr)
c.2822G>T (n.2822G>T)
c.2881G>T (p.Asp961Tyr)
c.3478G>T (p.Asp1160Tyr)
c.2983G>T (p.Asp995Tyr)
c.3496G>T (p.Asp1166Tyr)
c.3214G>T (p.Asp1072Tyr)
c.3358G>T (p.Asp1120Tyr)
c.3355G>T (p.Asp1119Tyr)
c.3217G>T (p.Asp1073Tyr)
c.2890G>T (p.Asp964Tyr)
c.2887G>T (p.Asp963Tyr)
c.2986G>T (p.Asp996Tyr)
c.*2914G>T (n.*2914G>T)
c.2106+182555G>T (n.2106+182555G>T)
c.636G>T
3g.184327263A>CCA355414125EIF2B5,EIF4G1c.3476A>C (p.Asp1159Ala)
c.3410A>C (p.Asp1137Ala)
c.2823A>C (n.2823A>C)
c.2882A>C (p.Asp961Ala)
c.3479A>C (p.Asp1160Ala)
c.2984A>C (p.Asp995Ala)
c.3497A>C (p.Asp1166Ala)
c.3215A>C (p.Asp1072Ala)
c.3359A>C (p.Asp1120Ala)
c.3356A>C (p.Asp1119Ala)
c.3218A>C (p.Asp1073Ala)
c.2891A>C (p.Asp964Ala)
c.2888A>C (p.Asp963Ala)
c.2987A>C (p.Asp996Ala)
c.*2915A>C (n.*2915A>C)
c.2106+182556A>C (n.2106+182556A>C)
c.637A>C
3g.184327263A>GCA355414127EIF2B5,EIF4G1c.3476A>G (p.Asp1159Gly)
c.3410A>G (p.Asp1137Gly)
c.2823A>G (n.2823A>G)
c.2882A>G (p.Asp961Gly)
c.3479A>G (p.Asp1160Gly)
c.2984A>G (p.Asp995Gly)
c.3497A>G (p.Asp1166Gly)
c.3215A>G (p.Asp1072Gly)
c.3359A>G (p.Asp1120Gly)
c.3356A>G (p.Asp1119Gly)
c.3218A>G (p.Asp1073Gly)
c.2891A>G (p.Asp964Gly)
c.2888A>G (p.Asp963Gly)
c.2987A>G (p.Asp996Gly)
c.*2915A>G (n.*2915A>G)
c.2106+182556A>G (n.2106+182556A>G)
c.637A>G
3g.184327263A>TCA355414126EIF2B5,EIF4G1c.3476A>T (p.Asp1159Val)
c.3410A>T (p.Asp1137Val)
c.2823A>T (n.2823A>T)
c.2882A>T (p.Asp961Val)
c.3479A>T (p.Asp1160Val)
c.2984A>T (p.Asp995Val)
c.3497A>T (p.Asp1166Val)
c.3215A>T (p.Asp1072Val)
c.3359A>T (p.Asp1120Val)
c.3356A>T (p.Asp1119Val)
c.3218A>T (p.Asp1073Val)
c.2891A>T (p.Asp964Val)
c.2888A>T (p.Asp963Val)
c.2987A>T (p.Asp996Val)
c.*2915A>T (n.*2915A>T)
c.2106+182556A>T (n.2106+182556A>T)
c.637A>T
3g.184327264C>ACA355414128EIF2B5,EIF4G1c.3477C>A (p.Asp1159Glu)
c.3411C>A (p.Asp1137Glu)
c.2824C>A (n.2824C>A)
c.2883C>A (p.Asp961Glu)
c.3480C>A (p.Asp1160Glu)
c.2985C>A (p.Asp995Glu)
c.3498C>A (p.Asp1166Glu)
c.3216C>A (p.Asp1072Glu)
c.3360C>A (p.Asp1120Glu)
c.3357C>A (p.Asp1119Glu)
c.3219C>A (p.Asp1073Glu)
c.2892C>A (p.Asp964Glu)
c.2889C>A (p.Asp963Glu)
c.2988C>A (p.Asp996Glu)
c.*2916C>A (n.*2916C>A)
c.2106+182557C>A (n.2106+182557C>A)
c.638C>A
3g.184327264C=CA1425958171EIF2B5,EIF4G1c.3477C= (p.Asp1159=)
c.3411C= (p.Asp1137=)
c.2824C= (n.2824C=)
c.2883C= (p.Asp961=)
c.3480C= (p.Asp1160=)
c.2985C= (p.Asp995=)
c.3498C= (p.Asp1166=)
c.3216C= (p.Asp1072=)
c.3360C= (p.Asp1120=)
c.3357C= (p.Asp1119=)
c.3219C= (p.Asp1073=)
c.2892C= (p.Asp964=)
c.2889C= (p.Asp963=)
c.2988C= (p.Asp996=)
c.*2916C= (n.*2916C=)
c.2106+182557C= (n.2106+182557C=)
c.638C=
3g.184327264C>GCA355414129EIF2B5,EIF4G1c.3477C>G (p.Asp1159Glu)
c.3411C>G (p.Asp1137Glu)
c.2824C>G (n.2824C>G)
c.2883C>G (p.Asp961Glu)
c.3480C>G (p.Asp1160Glu)
c.2985C>G (p.Asp995Glu)
c.3498C>G (p.Asp1166Glu)
c.3216C>G (p.Asp1072Glu)
c.3360C>G (p.Asp1120Glu)
c.3357C>G (p.Asp1119Glu)
c.3219C>G (p.Asp1073Glu)
c.2892C>G (p.Asp964Glu)
c.2889C>G (p.Asp963Glu)
c.2988C>G (p.Asp996Glu)
c.*2916C>G (n.*2916C>G)
c.2106+182557C>G (n.2106+182557C>G)
c.638C>G
3g.184327264C>TCA437330299EIF2B5,EIF4G1c.3477C>T (p.Asp1159=)
c.3411C>T (p.Asp1137=)
c.2824C>T (n.2824C>T)
c.2883C>T (p.Asp961=)
c.3480C>T (p.Asp1160=)
c.2985C>T (p.Asp995=)
c.3498C>T (p.Asp1166=)
c.3216C>T (p.Asp1072=)
c.3360C>T (p.Asp1120=)
c.3357C>T (p.Asp1119=)
c.3219C>T (p.Asp1073=)
c.2892C>T (p.Asp964=)
c.2889C>T (p.Asp963=)
c.2988C>T (p.Asp996=)
c.*2916C>T (n.*2916C>T)
c.2106+182557C>T (n.2106+182557C>T)
c.638C>T
 dbSNP gnomAD v4
3g.184327265C>ACA355414131EIF2B5,EIF4G1c.3478C>A (p.Arg1160Ser)
c.3412C>A (p.Arg1138Ser)
c.2825C>A (n.2825C>A)
c.2884C>A (p.Arg962Ser)
c.3481C>A (p.Arg1161Ser)
c.2986C>A (p.Arg996Ser)
c.3499C>A (p.Arg1167Ser)
c.3217C>A (p.Arg1073Ser)
c.3361C>A (p.Arg1121Ser)
c.3358C>A (p.Arg1120Ser)
c.3220C>A (p.Arg1074Ser)
c.2893C>A (p.Arg965Ser)
c.2890C>A (p.Arg964Ser)
c.2989C>A (p.Arg997Ser)
c.*2917C>A (n.*2917C>A)
c.2106+182558C>A (n.2106+182558C>A)
c.639C>A
 dbSNP gnomAD v3 gnomAD v4
3g.184327265C=CA1425958175EIF2B5,EIF4G1c.3478C= (p.Arg1160=)
c.3412C= (p.Arg1138=)
c.2825C= (n.2825C=)
c.2884C= (p.Arg962=)
c.3481C= (p.Arg1161=)
c.2986C= (p.Arg996=)
c.3499C= (p.Arg1167=)
c.3217C= (p.Arg1073=)
c.3361C= (p.Arg1121=)
c.3358C= (p.Arg1120=)
c.3220C= (p.Arg1074=)
c.2893C= (p.Arg965=)
c.2890C= (p.Arg964=)
c.2989C= (p.Arg997=)
c.*2917C= (n.*2917C=)
c.2106+182558C= (n.2106+182558C=)
c.639C=
3g.184327265C>GCA355414133EIF2B5,EIF4G1c.3478C>G (p.Arg1160Gly)
c.3412C>G (p.Arg1138Gly)
c.2825C>G (n.2825C>G)
c.2884C>G (p.Arg962Gly)
c.3481C>G (p.Arg1161Gly)
c.2986C>G (p.Arg996Gly)
c.3499C>G (p.Arg1167Gly)
c.3217C>G (p.Arg1073Gly)
c.3361C>G (p.Arg1121Gly)
c.3358C>G (p.Arg1120Gly)
c.3220C>G (p.Arg1074Gly)
c.2893C>G (p.Arg965Gly)
c.2890C>G (p.Arg964Gly)
c.2989C>G (p.Arg997Gly)
c.*2917C>G (n.*2917C>G)
c.2106+182558C>G (n.2106+182558C>G)
c.639C>G
3g.184327265C>TCA355414136EIF2B5,EIF4G1c.3478C>T (p.Arg1160Cys)
c.3412C>T (p.Arg1138Cys)
c.2825C>T (n.2825C>T)
c.2884C>T (p.Arg962Cys)
c.3481C>T (p.Arg1161Cys)
c.2986C>T (p.Arg996Cys)
c.3499C>T (p.Arg1167Cys)
c.3217C>T (p.Arg1073Cys)
c.3361C>T (p.Arg1121Cys)
c.3358C>T (p.Arg1120Cys)
c.3220C>T (p.Arg1074Cys)
c.2893C>T (p.Arg965Cys)
c.2890C>T (p.Arg964Cys)
c.2989C>T (p.Arg997Cys)
c.*2917C>T (n.*2917C>T)
c.2106+182558C>T (n.2106+182558C>T)
c.639C>T
 dbSNP gnomAD v2 gnomAD v4
3g.184327266G>ACA2732822EIF2B5,EIF4G1c.3479G>A (p.Arg1160His)
c.3413G>A (p.Arg1138His)
c.2826G>A (n.2826G>A)
c.2885G>A (p.Arg962His)
c.3482G>A (p.Arg1161His)
c.2987G>A (p.Arg996His)
c.3500G>A (p.Arg1167His)
c.3218G>A (p.Arg1073His)
c.3362G>A (p.Arg1121His)
c.3359G>A (p.Arg1120His)
c.3221G>A (p.Arg1074His)
c.2894G>A (p.Arg965His)
c.2891G>A (p.Arg964His)
c.2990G>A (p.Arg997His)
c.*2918G>A (n.*2918G>A)
c.2106+182559G>A (n.2106+182559G>A)
c.640G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.184327266G>CCA355414141EIF2B5,EIF4G1c.3479G>C (p.Arg1160Pro)
c.3413G>C (p.Arg1138Pro)
c.2826G>C (n.2826G>C)
c.2885G>C (p.Arg962Pro)
c.3482G>C (p.Arg1161Pro)
c.2987G>C (p.Arg996Pro)
c.3500G>C (p.Arg1167Pro)
c.3218G>C (p.Arg1073Pro)
c.3362G>C (p.Arg1121Pro)
c.3359G>C (p.Arg1120Pro)
c.3221G>C (p.Arg1074Pro)
c.2894G>C (p.Arg965Pro)
c.2891G>C (p.Arg964Pro)
c.2990G>C (p.Arg997Pro)
c.*2918G>C (n.*2918G>C)
c.2106+182559G>C (n.2106+182559G>C)
c.640G>C
3g.184327266G=CA1425958178EIF2B5,EIF4G1c.3479G= (p.Arg1160=)
c.3413G= (p.Arg1138=)
c.2826G= (n.2826G=)
c.2885G= (p.Arg962=)
c.3482G= (p.Arg1161=)
c.2987G= (p.Arg996=)
c.3500G= (p.Arg1167=)
c.3218G= (p.Arg1073=)
c.3362G= (p.Arg1121=)
c.3359G= (p.Arg1120=)
c.3221G= (p.Arg1074=)
c.2894G= (p.Arg965=)
c.2891G= (p.Arg964=)
c.2990G= (p.Arg997=)
c.*2918G= (n.*2918G=)
c.2106+182559G= (n.2106+182559G=)
c.640G=
3g.184327266G>TCA355414144EIF2B5,EIF4G1c.3479G>T (p.Arg1160Leu)
c.3413G>T (p.Arg1138Leu)
c.2826G>T (n.2826G>T)
c.2885G>T (p.Arg962Leu)
c.3482G>T (p.Arg1161Leu)
c.2987G>T (p.Arg996Leu)
c.3500G>T (p.Arg1167Leu)
c.3218G>T (p.Arg1073Leu)
c.3362G>T (p.Arg1121Leu)
c.3359G>T (p.Arg1120Leu)
c.3221G>T (p.Arg1074Leu)
c.2894G>T (p.Arg965Leu)
c.2891G>T (p.Arg964Leu)
c.2990G>T (p.Arg997Leu)
c.*2918G>T (n.*2918G>T)
c.2106+182559G>T (n.2106+182559G>T)
c.640G>T
 gnomAD v4
3g.184327267C>ACA437330300EIF2B5,EIF4G1c.3480C>A (p.Arg1160=)
c.3414C>A (p.Arg1138=)
c.2827C>A (n.2827C>A)
c.2886C>A (p.Arg962=)
c.3483C>A (p.Arg1161=)
c.2988C>A (p.Arg996=)
c.3501C>A (p.Arg1167=)
c.3219C>A (p.Arg1073=)
c.3363C>A (p.Arg1121=)
c.3360C>A (p.Arg1120=)
c.3222C>A (p.Arg1074=)
c.2895C>A (p.Arg965=)
c.2892C>A (p.Arg964=)
c.2991C>A (p.Arg997=)
c.*2919C>A (n.*2919C>A)
c.2106+182560C>A (n.2106+182560C>A)
c.641C>A
3g.184327267C=CA1425958182EIF2B5,EIF4G1c.3480C= (p.Arg1160=)
c.3414C= (p.Arg1138=)
c.2827C= (n.2827C=)
c.2886C= (p.Arg962=)
c.3483C= (p.Arg1161=)
c.2988C= (p.Arg996=)
c.3501C= (p.Arg1167=)
c.3219C= (p.Arg1073=)
c.3363C= (p.Arg1121=)
c.3360C= (p.Arg1120=)
c.3222C= (p.Arg1074=)
c.2895C= (p.Arg965=)
c.2892C= (p.Arg964=)
c.2991C= (p.Arg997=)
c.*2919C= (n.*2919C=)
c.2106+182560C= (n.2106+182560C=)
c.641C=
3g.184327267C>GCA437330301EIF2B5,EIF4G1c.3480C>G (p.Arg1160=)
c.3414C>G (p.Arg1138=)
c.2827C>G (n.2827C>G)
c.2886C>G (p.Arg962=)
c.3483C>G (p.Arg1161=)
c.2988C>G (p.Arg996=)
c.3501C>G (p.Arg1167=)
c.3219C>G (p.Arg1073=)
c.3363C>G (p.Arg1121=)
c.3360C>G (p.Arg1120=)
c.3222C>G (p.Arg1074=)
c.2895C>G (p.Arg965=)
c.2892C>G (p.Arg964=)
c.2991C>G (p.Arg997=)
c.*2919C>G (n.*2919C>G)
c.2106+182560C>G (n.2106+182560C>G)
c.641C>G
3g.184327267C>TCA88867507EIF2B5,EIF4G1c.3480C>T (p.Arg1160=)
c.3414C>T (p.Arg1138=)
c.2827C>T (n.2827C>T)
c.2886C>T (p.Arg962=)
c.3483C>T (p.Arg1161=)
c.2988C>T (p.Arg996=)
c.3501C>T (p.Arg1167=)
c.3219C>T (p.Arg1073=)
c.3363C>T (p.Arg1121=)
c.3360C>T (p.Arg1120=)
c.3222C>T (p.Arg1074=)
c.2895C>T (p.Arg965=)
c.2892C>T (p.Arg964=)
c.2991C>T (p.Arg997=)
c.*2919C>T (n.*2919C>T)
c.2106+182560C>T (n.2106+182560C>T)
c.641C>T
 dbSNP gnomAD v2 gnomAD v4
3g.184327268C>ACA355414151EIF2B5,EIF4G1c.3481C>A (p.Leu1161Ile)
c.3415C>A (p.Leu1139Ile)
c.2828C>A (n.2828C>A)
c.2887C>A (p.Leu963Ile)
c.3484C>A (p.Leu1162Ile)
c.2989C>A (p.Leu997Ile)
c.3502C>A (p.Leu1168Ile)
c.3220C>A (p.Leu1074Ile)
c.3364C>A (p.Leu1122Ile)
c.3361C>A (p.Leu1121Ile)
c.3223C>A (p.Leu1075Ile)
c.2896C>A (p.Leu966Ile)
c.2893C>A (p.Leu965Ile)
c.2992C>A (p.Leu998Ile)
c.*2920C>A (n.*2920C>A)
c.2106+182561C>A (n.2106+182561C>A)
c.642C>A
3g.184327268C=CA1425958184EIF2B5,EIF4G1c.3481C= (p.Leu1161=)
c.3415C= (p.Leu1139=)
c.2828C= (n.2828C=)
c.2887C= (p.Leu963=)
c.3484C= (p.Leu1162=)
c.2989C= (p.Leu997=)
c.3502C= (p.Leu1168=)
c.3220C= (p.Leu1074=)
c.3364C= (p.Leu1122=)
c.3361C= (p.Leu1121=)
c.3223C= (p.Leu1075=)
c.2896C= (p.Leu966=)
c.2893C= (p.Leu965=)
c.2992C= (p.Leu998=)
c.*2920C= (n.*2920C=)
c.2106+182561C= (n.2106+182561C=)
c.642C=
3g.184327268C>GCA355414153EIF2B5,EIF4G1c.3481C>G (p.Leu1161Val)
c.3415C>G (p.Leu1139Val)
c.2828C>G (n.2828C>G)
c.2887C>G (p.Leu963Val)
c.3484C>G (p.Leu1162Val)
c.2989C>G (p.Leu997Val)
c.3502C>G (p.Leu1168Val)
c.3220C>G (p.Leu1074Val)
c.3364C>G (p.Leu1122Val)
c.3361C>G (p.Leu1121Val)
c.3223C>G (p.Leu1075Val)
c.2896C>G (p.Leu966Val)
c.2893C>G (p.Leu965Val)
c.2992C>G (p.Leu998Val)
c.*2920C>G (n.*2920C>G)
c.2106+182561C>G (n.2106+182561C>G)
c.642C>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.184327268C>TCA437330303EIF2B5,EIF4G1c.3481C>T (p.Leu1161=)
c.3415C>T (p.Leu1139=)
c.2828C>T (n.2828C>T)
c.2887C>T (p.Leu963=)
c.3484C>T (p.Leu1162=)
c.2989C>T (p.Leu997=)
c.3502C>T (p.Leu1168=)
c.3220C>T (p.Leu1074=)
c.3364C>T (p.Leu1122=)
c.3361C>T (p.Leu1121=)
c.3223C>T (p.Leu1075=)
c.2896C>T (p.Leu966=)
c.2893C>T (p.Leu965=)
c.2992C>T (p.Leu998=)
c.*2920C>T (n.*2920C>T)
c.2106+182561C>T (n.2106+182561C>T)
c.642C>T
 gnomAD v4
3g.184327269T>ACA355414157EIF2B5,EIF4G1c.3482T>A (p.Leu1161Gln)
c.3416T>A (p.Leu1139Gln)
c.2829T>A (n.2829T>A)
c.2888T>A (p.Leu963Gln)
c.3485T>A (p.Leu1162Gln)
c.2990T>A (p.Leu997Gln)
c.3503T>A (p.Leu1168Gln)
c.3221T>A (p.Leu1074Gln)
c.3365T>A (p.Leu1122Gln)
c.3362T>A (p.Leu1121Gln)
c.3224T>A (p.Leu1075Gln)
c.2897T>A (p.Leu966Gln)
c.2894T>A (p.Leu965Gln)
c.2993T>A (p.Leu998Gln)
c.*2921T>A (n.*2921T>A)
c.2106+182562T>A (n.2106+182562T>A)
c.643T>A
 dbSNP gnomAD v2 gnomAD v4
3g.184327269T>CCA2732823EIF2B5,EIF4G1c.3482T>C (p.Leu1161Pro)
c.3416T>C (p.Leu1139Pro)
c.2829T>C (n.2829T>C)
c.2888T>C (p.Leu963Pro)
c.3485T>C (p.Leu1162Pro)
c.2990T>C (p.Leu997Pro)
c.3503T>C (p.Leu1168Pro)
c.3221T>C (p.Leu1074Pro)
c.3365T>C (p.Leu1122Pro)
c.3362T>C (p.Leu1121Pro)
c.3224T>C (p.Leu1075Pro)
c.2897T>C (p.Leu966Pro)
c.2894T>C (p.Leu965Pro)
c.2993T>C (p.Leu998Pro)
c.*2921T>C (n.*2921T>C)
c.2106+182562T>C (n.2106+182562T>C)
c.643T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.184327269T>GCA355414159EIF2B5,EIF4G1c.3482T>G (p.Leu1161Arg)
c.3416T>G (p.Leu1139Arg)
c.2829T>G (n.2829T>G)
c.2888T>G (p.Leu963Arg)
c.3485T>G (p.Leu1162Arg)
c.2990T>G (p.Leu997Arg)
c.3503T>G (p.Leu1168Arg)
c.3221T>G (p.Leu1074Arg)
c.3365T>G (p.Leu1122Arg)
c.3362T>G (p.Leu1121Arg)
c.3224T>G (p.Leu1075Arg)
c.2897T>G (p.Leu966Arg)
c.2894T>G (p.Leu965Arg)
c.2993T>G (p.Leu998Arg)
c.*2921T>G (n.*2921T>G)
c.2106+182562T>G (n.2106+182562T>G)
c.643T>G
3g.184327269T=CA1425958187EIF2B5,EIF4G1c.3482T= (p.Leu1161=)
c.3416T= (p.Leu1139=)
c.2829T= (n.2829T=)
c.2888T= (p.Leu963=)
c.3485T= (p.Leu1162=)
c.2990T= (p.Leu997=)
c.3503T= (p.Leu1168=)
c.3221T= (p.Leu1074=)
c.3365T= (p.Leu1122=)
c.3362T= (p.Leu1121=)
c.3224T= (p.Leu1075=)
c.2897T= (p.Leu966=)
c.2894T= (p.Leu965=)
c.2993T= (p.Leu998=)
c.*2921T= (n.*2921T=)
c.2106+182562T= (n.2106+182562T=)
c.643T=
3g.184327270A>CCA437330305EIF2B5,EIF4G1c.3483A>C (p.Leu1161=)
c.3417A>C (p.Leu1139=)
c.2830A>C (n.2830A>C)
c.2889A>C (p.Leu963=)
c.3486A>C (p.Leu1162=)
c.2991A>C (p.Leu997=)
c.3504A>C (p.Leu1168=)
c.3222A>C (p.Leu1074=)
c.3366A>C (p.Leu1122=)
c.3363A>C (p.Leu1121=)
c.3225A>C (p.Leu1075=)
c.2898A>C (p.Leu966=)
c.2895A>C (p.Leu965=)
c.2994A>C (p.Leu998=)
c.*2922A>C (n.*2922A>C)
c.2106+182563A>C (n.2106+182563A>C)
c.644A>C
3g.184327270A>GCA437330306EIF2B5,EIF4G1c.3483A>G (p.Leu1161=)
c.3417A>G (p.Leu1139=)
c.2830A>G (n.2830A>G)
c.2889A>G (p.Leu963=)
c.3486A>G (p.Leu1162=)
c.2991A>G (p.Leu997=)
c.3504A>G (p.Leu1168=)
c.3222A>G (p.Leu1074=)
c.3366A>G (p.Leu1122=)
c.3363A>G (p.Leu1121=)
c.3225A>G (p.Leu1075=)
c.2898A>G (p.Leu966=)
c.2895A>G (p.Leu965=)
c.2994A>G (p.Leu998=)
c.*2922A>G (n.*2922A>G)
c.2106+182563A>G (n.2106+182563A>G)
c.644A>G
 gnomAD v4
3g.184327270A>TCA437330307EIF2B5,EIF4G1c.3483A>T (p.Leu1161=)
c.3417A>T (p.Leu1139=)
c.2830A>T (n.2830A>T)
c.2889A>T (p.Leu963=)
c.3486A>T (p.Leu1162=)
c.2991A>T (p.Leu997=)
c.3504A>T (p.Leu1168=)
c.3222A>T (p.Leu1074=)
c.3366A>T (p.Leu1122=)
c.3363A>T (p.Leu1121=)
c.3225A>T (p.Leu1075=)
c.2898A>T (p.Leu966=)
c.2895A>T (p.Leu965=)
c.2994A>T (p.Leu998=)
c.*2922A>T (n.*2922A>T)
c.2106+182563A>T (n.2106+182563A>T)
c.644A>T
3g.184327271G>ACA355414167EIF2B5,EIF4G1c.3484G>A (p.Glu1162Lys)
c.3418G>A (p.Glu1140Lys)
c.2831G>A (n.2831G>A)
c.2890G>A (p.Glu964Lys)
c.3487G>A (p.Glu1163Lys)
c.2992G>A (p.Glu998Lys)
c.3505G>A (p.Glu1169Lys)
c.3223G>A (p.Glu1075Lys)
c.3367G>A (p.Glu1123Lys)
c.3364G>A (p.Glu1122Lys)
c.3226G>A (p.Glu1076Lys)
c.2899G>A (p.Glu967Lys)
c.2896G>A (p.Glu966Lys)
c.2995G>A (p.Glu999Lys)
c.*2923G>A (n.*2923G>A)
c.2106+182564G>A (n.2106+182564G>A)
c.645G>A
3g.184327271G>CCA2732824EIF2B5,EIF4G1c.3484G>C (p.Glu1162Gln)
c.3418G>C (p.Glu1140Gln)
c.2831G>C (n.2831G>C)
c.2890G>C (p.Glu964Gln)
c.3487G>C (p.Glu1163Gln)
c.2992G>C (p.Glu998Gln)
c.3505G>C (p.Glu1169Gln)
c.3223G>C (p.Glu1075Gln)
c.3367G>C (p.Glu1123Gln)
c.3364G>C (p.Glu1122Gln)
c.3226G>C (p.Glu1076Gln)
c.2899G>C (p.Glu967Gln)
c.2896G>C (p.Glu966Gln)
c.2995G>C (p.Glu999Gln)
c.*2923G>C (n.*2923G>C)
c.2106+182564G>C (n.2106+182564G>C)
c.645G>C
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.184327271G=CA1425958192EIF2B5,EIF4G1c.3484G= (p.Glu1162=)
c.3418G= (p.Glu1140=)
c.2831G= (n.2831G=)
c.2890G= (p.Glu964=)
c.3487G= (p.Glu1163=)
c.2992G= (p.Glu998=)
c.3505G= (p.Glu1169=)
c.3223G= (p.Glu1075=)
c.3367G= (p.Glu1123=)
c.3364G= (p.Glu1122=)
c.3226G= (p.Glu1076=)
c.2899G= (p.Glu967=)
c.2896G= (p.Glu966=)
c.2995G= (p.Glu999=)
c.*2923G= (n.*2923G=)
c.2106+182564G= (n.2106+182564G=)
c.645G=
3g.184327271G>TCA355414170EIF2B5,EIF4G1c.3484G>T (p.Glu1162Ter)
c.3418G>T (p.Glu1140Ter)
c.2831G>T (n.2831G>T)
c.2890G>T (p.Glu964Ter)
c.3487G>T (p.Glu1163Ter)
c.2992G>T (p.Glu998Ter)
c.3505G>T (p.Glu1169Ter)
c.3223G>T (p.Glu1075Ter)
c.3367G>T (p.Glu1123Ter)
c.3364G>T (p.Glu1122Ter)
c.3226G>T (p.Glu1076Ter)
c.2899G>T (p.Glu967Ter)
c.2896G>T (p.Glu966Ter)
c.2995G>T (p.Glu999Ter)
c.*2923G>T (n.*2923G>T)
c.2106+182564G>T (n.2106+182564G>T)
c.645G>T
3g.184327272A>CCA355414171EIF2B5,EIF4G1c.3485A>C (p.Glu1162Ala)
c.3419A>C (p.Glu1140Ala)
c.2832A>C (n.2832A>C)
c.2891A>C (p.Glu964Ala)
c.3488A>C (p.Glu1163Ala)
c.2993A>C (p.Glu998Ala)
c.3506A>C (p.Glu1169Ala)
c.3224A>C (p.Glu1075Ala)
c.3368A>C (p.Glu1123Ala)
c.3365A>C (p.Glu1122Ala)
c.3227A>C (p.Glu1076Ala)
c.2900A>C (p.Glu967Ala)
c.2897A>C (p.Glu966Ala)
c.2996A>C (p.Glu999Ala)
c.*2924A>C (n.*2924A>C)
c.2106+182565A>C (n.2106+182565A>C)
c.646A>C
3g.184327272A>GCA355414172EIF2B5,EIF4G1c.3485A>G (p.Glu1162Gly)
c.3419A>G (p.Glu1140Gly)
c.2832A>G (n.2832A>G)
c.2891A>G (p.Glu964Gly)
c.3488A>G (p.Glu1163Gly)
c.2993A>G (p.Glu998Gly)
c.3506A>G (p.Glu1169Gly)
c.3224A>G (p.Glu1075Gly)
c.3368A>G (p.Glu1123Gly)
c.3365A>G (p.Glu1122Gly)
c.3227A>G (p.Glu1076Gly)
c.2900A>G (p.Glu967Gly)
c.2897A>G (p.Glu966Gly)
c.2996A>G (p.Glu999Gly)
c.*2924A>G (n.*2924A>G)
c.2106+182565A>G (n.2106+182565A>G)
c.646A>G
3g.184327272A>TCA355414176EIF2B5,EIF4G1c.3485A>T (p.Glu1162Val)
c.3419A>T (p.Glu1140Val)
c.2832A>T (n.2832A>T)
c.2891A>T (p.Glu964Val)
c.3488A>T (p.Glu1163Val)
c.2993A>T (p.Glu998Val)
c.3506A>T (p.Glu1169Val)
c.3224A>T (p.Glu1075Val)
c.3368A>T (p.Glu1123Val)
c.3365A>T (p.Glu1122Val)
c.3227A>T (p.Glu1076Val)
c.2900A>T (p.Glu967Val)
c.2897A>T (p.Glu966Val)
c.2996A>T (p.Glu999Val)
c.*2924A>T (n.*2924A>T)
c.2106+182565A>T (n.2106+182565A>T)
c.646A>T
3g.184327273G>ACA437330309EIF2B5,EIF4G1c.3486G>A (p.Glu1162=)
c.3420G>A (p.Glu1140=)
c.2833G>A (n.2833G>A)
c.2892G>A (p.Glu964=)
c.3489G>A (p.Glu1163=)
c.2994G>A (p.Glu998=)
c.3507G>A (p.Glu1169=)
c.3225G>A (p.Glu1075=)
c.3369G>A (p.Glu1123=)
c.3366G>A (p.Glu1122=)
c.3228G>A (p.Glu1076=)
c.2901G>A (p.Glu967=)
c.2898G>A (p.Glu966=)
c.2997G>A (p.Glu999=)
c.*2925G>A (n.*2925G>A)
c.2106+182566G>A (n.2106+182566G>A)
c.647G>A
 dbSNP
3g.184327273G>CCA355414179EIF2B5,EIF4G1c.3486G>C (p.Glu1162Asp)
c.3420G>C (p.Glu1140Asp)
c.2833G>C (n.2833G>C)
c.2892G>C (p.Glu964Asp)
c.3489G>C (p.Glu1163Asp)
c.2994G>C (p.Glu998Asp)
c.3507G>C (p.Glu1169Asp)
c.3225G>C (p.Glu1075Asp)
c.3369G>C (p.Glu1123Asp)
c.3366G>C (p.Glu1122Asp)
c.3228G>C (p.Glu1076Asp)
c.2901G>C (p.Glu967Asp)
c.2898G>C (p.Glu966Asp)
c.2997G>C (p.Glu999Asp)
c.*2925G>C (n.*2925G>C)
c.2106+182566G>C (n.2106+182566G>C)
c.647G>C
3g.184327273G=CA1425958196EIF2B5,EIF4G1c.3486G= (p.Glu1162=)
c.3420G= (p.Glu1140=)
c.2833G= (n.2833G=)
c.2892G= (p.Glu964=)
c.3489G= (p.Glu1163=)
c.2994G= (p.Glu998=)
c.3507G= (p.Glu1169=)
c.3225G= (p.Glu1075=)
c.3369G= (p.Glu1123=)
c.3366G= (p.Glu1122=)
c.3228G= (p.Glu1076=)
c.2901G= (p.Glu967=)
c.2898G= (p.Glu966=)
c.2997G= (p.Glu999=)
c.*2925G= (n.*2925G=)
c.2106+182566G= (n.2106+182566G=)
c.647G=
3g.184327273G>TCA355414183EIF2B5,EIF4G1c.3486G>T (p.Glu1162Asp)
c.3420G>T (p.Glu1140Asp)
c.2833G>T (n.2833G>T)
c.2892G>T (p.Glu964Asp)
c.3489G>T (p.Glu1163Asp)
c.2994G>T (p.Glu998Asp)
c.3507G>T (p.Glu1169Asp)
c.3225G>T (p.Glu1075Asp)
c.3369G>T (p.Glu1123Asp)
c.3366G>T (p.Glu1122Asp)
c.3228G>T (p.Glu1076Asp)
c.2901G>T (p.Glu967Asp)
c.2898G>T (p.Glu966Asp)
c.2997G>T (p.Glu999Asp)
c.*2925G>T (n.*2925G>T)
c.2106+182566G>T (n.2106+182566G>T)
c.647G>T
 dbSNP gnomAD v3 gnomAD v4
3g.184327274C>ACA437330311EIF2B5,EIF4G1c.3487C>A (p.Arg1163=)
c.3421C>A (p.Arg1141=)
c.2834C>A (n.2834C>A)
c.2893C>A (p.Arg965=)
c.3490C>A (p.Arg1164=)
c.2995C>A (p.Arg999=)
c.3508C>A (p.Arg1170=)
c.3226C>A (p.Arg1076=)
c.3370C>A (p.Arg1124=)
c.3367C>A (p.Arg1123=)
c.3229C>A (p.Arg1077=)
c.2902C>A (p.Arg968=)
c.2899C>A (p.Arg967=)
c.2998C>A (p.Arg1000=)
c.*2926C>A (n.*2926C>A)
c.2106+182567C>A (n.2106+182567C>A)
c.648C>A
3g.184327274C=CA1425958198EIF2B5,EIF4G1c.3487C= (p.Arg1163=)
c.3421C= (p.Arg1141=)
c.2834C= (n.2834C=)
c.2893C= (p.Arg965=)
c.3490C= (p.Arg1164=)
c.2995C= (p.Arg999=)
c.3508C= (p.Arg1170=)
c.3226C= (p.Arg1076=)
c.3370C= (p.Arg1124=)
c.3367C= (p.Arg1123=)
c.3229C= (p.Arg1077=)
c.2902C= (p.Arg968=)
c.2899C= (p.Arg967=)
c.2998C= (p.Arg1000=)
c.*2926C= (n.*2926C=)
c.2106+182567C= (n.2106+182567C=)
c.648C=
3g.184327274C>GCA355414186EIF2B5,EIF4G1c.3487C>G (p.Arg1163Gly)
c.3421C>G (p.Arg1141Gly)
c.2834C>G (n.2834C>G)
c.2893C>G (p.Arg965Gly)
c.3490C>G (p.Arg1164Gly)
c.2995C>G (p.Arg999Gly)
c.3508C>G (p.Arg1170Gly)
c.3226C>G (p.Arg1076Gly)
c.3370C>G (p.Arg1124Gly)
c.3367C>G (p.Arg1123Gly)
c.3229C>G (p.Arg1077Gly)
c.2902C>G (p.Arg968Gly)
c.2899C>G (p.Arg967Gly)
c.2998C>G (p.Arg1000Gly)
c.*2926C>G (n.*2926C>G)
c.2106+182567C>G (n.2106+182567C>G)
c.648C>G
3g.184327274C>TCA2732825EIF2B5,EIF4G1c.3487C>T (p.Arg1163Trp)
c.3421C>T (p.Arg1141Trp)
c.2834C>T (n.2834C>T)
c.2893C>T (p.Arg965Trp)
c.3490C>T (p.Arg1164Trp)
c.2995C>T (p.Arg999Trp)
c.3508C>T (p.Arg1170Trp)
c.3226C>T (p.Arg1076Trp)
c.3370C>T (p.Arg1124Trp)
c.3367C>T (p.Arg1123Trp)
c.3229C>T (p.Arg1077Trp)
c.2902C>T (p.Arg968Trp)
c.2899C>T (p.Arg967Trp)
c.2998C>T (p.Arg1000Trp)
c.*2926C>T (n.*2926C>T)
c.2106+182567C>T (n.2106+182567C>T)
c.648C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.184327275G>ACA2732826EIF2B5,EIF4G1c.3488G>A (p.Arg1163Gln)
c.3422G>A (p.Arg1141Gln)
c.2835G>A (n.2835G>A)
c.2894G>A (p.Arg965Gln)
c.3491G>A (p.Arg1164Gln)
c.2996G>A (p.Arg999Gln)
c.3509G>A (p.Arg1170Gln)
c.3227G>A (p.Arg1076Gln)
c.3371G>A (p.Arg1124Gln)
c.3368G>A (p.Arg1123Gln)
c.3230G>A (p.Arg1077Gln)
c.2903G>A (p.Arg968Gln)
c.2900G>A (p.Arg967Gln)
c.2999G>A (p.Arg1000Gln)
c.*2927G>A (n.*2927G>A)
c.2106+182568G>A (n.2106+182568G>A)
c.649G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.184327275G>CCA355414204EIF2B5,EIF4G1c.3488G>C (p.Arg1163Pro)
c.3422G>C (p.Arg1141Pro)
c.2835G>C (n.2835G>C)
c.2894G>C (p.Arg965Pro)
c.3491G>C (p.Arg1164Pro)
c.2996G>C (p.Arg999Pro)
c.3509G>C (p.Arg1170Pro)
c.3227G>C (p.Arg1076Pro)
c.3371G>C (p.Arg1124Pro)
c.3368G>C (p.Arg1123Pro)
c.3230G>C (p.Arg1077Pro)
c.2903G>C (p.Arg968Pro)
c.2900G>C (p.Arg967Pro)
c.2999G>C (p.Arg1000Pro)
c.*2927G>C (n.*2927G>C)
c.2106+182568G>C (n.2106+182568G>C)
c.649G>C
3g.184327275G=CA1425958201EIF2B5,EIF4G1c.3488G= (p.Arg1163=)
c.3422G= (p.Arg1141=)
c.2835G= (n.2835G=)
c.2894G= (p.Arg965=)
c.3491G= (p.Arg1164=)
c.2996G= (p.Arg999=)
c.3509G= (p.Arg1170=)
c.3227G= (p.Arg1076=)
c.3371G= (p.Arg1124=)
c.3368G= (p.Arg1123=)
c.3230G= (p.Arg1077=)
c.2903G= (p.Arg968=)
c.2900G= (p.Arg967=)
c.2999G= (p.Arg1000=)
c.*2927G= (n.*2927G=)
c.2106+182568G= (n.2106+182568G=)
c.649G=
3g.184327275G>TCA355414208EIF2B5,EIF4G1c.3488G>T (p.Arg1163Leu)
c.3422G>T (p.Arg1141Leu)
c.2835G>T (n.2835G>T)
c.2894G>T (p.Arg965Leu)
c.3491G>T (p.Arg1164Leu)
c.2996G>T (p.Arg999Leu)
c.3509G>T (p.Arg1170Leu)
c.3227G>T (p.Arg1076Leu)
c.3371G>T (p.Arg1124Leu)
c.3368G>T (p.Arg1123Leu)
c.3230G>T (p.Arg1077Leu)
c.2903G>T (p.Arg968Leu)
c.2900G>T (p.Arg967Leu)
c.2999G>T (p.Arg1000Leu)
c.*2927G>T (n.*2927G>T)
c.2106+182568G>T (n.2106+182568G>T)
c.649G>T
3g.184327276G>ACA355414211EIF2B5,EIF4G1c.3489G>A (p.Arg1163=)
c.3423G>A (p.Arg1141=)
c.2836G>A (n.2836G>A)
c.2895G>A (p.Arg965=)
c.3492G>A (p.Arg1164=)
c.2997G>A (p.Arg999=)
c.3510G>A (p.Arg1170=)
c.3228G>A (p.Arg1076=)
c.3372G>A (p.Arg1124=)
c.3369G>A (p.Arg1123=)
c.3231G>A (p.Arg1077=)
c.2904G>A (p.Arg968=)
c.2901G>A (p.Arg967=)
c.3000G>A (p.Arg1000=)
c.*2928G>A (n.*2928G>A)
c.2106+182569G>A (n.2106+182569G>A)
c.650G>A
3g.184327276G>CCA355414215EIF2B5,EIF4G1c.3489G>C (p.Arg1163=)
c.3423G>C (p.Arg1141=)
c.2836G>C (n.2836G>C)
c.2895G>C (p.Arg965=)
c.3492G>C (p.Arg1164=)
c.2997G>C (p.Arg999=)
c.3510G>C (p.Arg1170=)
c.3228G>C (p.Arg1076=)
c.3372G>C (p.Arg1124=)
c.3369G>C (p.Arg1123=)
c.3231G>C (p.Arg1077=)
c.2904G>C (p.Arg968=)
c.2901G>C (p.Arg967=)
c.3000G>C (p.Arg1000=)
c.*2928G>C (n.*2928G>C)
c.2106+182569G>C (n.2106+182569G>C)
c.650G>C
3g.184327276G>TCA355414218EIF2B5,EIF4G1c.3489G>T (p.Arg1163=)
c.3423G>T (p.Arg1141=)
c.2836G>T (n.2836G>T)
c.2895G>T (p.Arg965=)
c.3492G>T (p.Arg1164=)
c.2997G>T (p.Arg999=)
c.3510G>T (p.Arg1170=)
c.3228G>T (p.Arg1076=)
c.3372G>T (p.Arg1124=)
c.3369G>T (p.Arg1123=)
c.3231G>T (p.Arg1077=)
c.2904G>T (p.Arg968=)
c.2901G>T (p.Arg967=)
c.3000G>T (p.Arg1000=)
c.*2928G>T (n.*2928G>T)
c.2106+182569G>T (n.2106+182569G>T)
c.650G>T
3g.184327277A=CA1425958203EIF2B5,EIF4G1c.3490A= (p.Ser1164=)
c.3424A= (p.Ser1142=)
c.2837A= (n.2837A=)
c.2896-1A= (n.2896-1A=)
c.3493A= (p.Ser1165=)
c.2998A= (p.Ser1000=)
c.3511A= (p.Ser1171=)
c.3229A= (p.Ser1077=)
c.3373A= (p.Ser1125=)
c.3370A= (p.Ser1124=)
c.3232A= (p.Ser1078=)
c.2905A= (p.Ser969=)
c.2902A= (p.Ser968=)
c.3001A= (p.Ser1001=)
c.*2929A= (n.*2929A=)
c.2106+182570A= (n.2106+182570A=)
c.651A=
3g.184327277A>CCA88867551EIF2B5,EIF4G1c.3490A>C (p.Ser1164Arg)
c.3424A>C (p.Ser1142Arg)
c.2837A>C (n.2837A>C)
c.2896-1A>C (n.2896-1A>C)
c.3493A>C (p.Ser1165Arg)
c.2998A>C (p.Ser1000Arg)
c.3511A>C (p.Ser1171Arg)
c.3229A>C (p.Ser1077Arg)
c.3373A>C (p.Ser1125Arg)
c.3370A>C (p.Ser1124Arg)
c.3232A>C (p.Ser1078Arg)
c.2905A>C (p.Ser969Arg)
c.2902A>C (p.Ser968Arg)
c.3001A>C (p.Ser1001Arg)
c.*2929A>C (n.*2929A>C)
c.2106+182570A>C (n.2106+182570A>C)
c.651A>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.184327277A>GCA355414230EIF2B5,EIF4G1c.3490A>G (p.Ser1164Gly)
c.3424A>G (p.Ser1142Gly)
c.2837A>G (n.2837A>G)
c.2896-1A>G (n.2896-1A>G)
c.3493A>G (p.Ser1165Gly)
c.2998A>G (p.Ser1000Gly)
c.3511A>G (p.Ser1171Gly)
c.3229A>G (p.Ser1077Gly)
c.3373A>G (p.Ser1125Gly)
c.3370A>G (p.Ser1124Gly)
c.3232A>G (p.Ser1078Gly)
c.2905A>G (p.Ser969Gly)
c.2902A>G (p.Ser968Gly)
c.3001A>G (p.Ser1001Gly)
c.*2929A>G (n.*2929A>G)
c.2106+182570A>G (n.2106+182570A>G)
c.651A>G
 dbSNP gnomAD v2 gnomAD v4
3g.184327277A>TCA355414225EIF2B5,EIF4G1c.3490A>T (p.Ser1164Cys)
c.3424A>T (p.Ser1142Cys)
c.2837A>T (n.2837A>T)
c.2896-1A>T (n.2896-1A>T)
c.3493A>T (p.Ser1165Cys)
c.2998A>T (p.Ser1000Cys)
c.3511A>T (p.Ser1171Cys)
c.3229A>T (p.Ser1077Cys)
c.3373A>T (p.Ser1125Cys)
c.3370A>T (p.Ser1124Cys)
c.3232A>T (p.Ser1078Cys)
c.2905A>T (p.Ser969Cys)
c.2902A>T (p.Ser968Cys)
c.3001A>T (p.Ser1001Cys)
c.*2929A>T (n.*2929A>T)
c.2106+182570A>T (n.2106+182570A>T)
c.651A>T
3g.184327278G>ACA355414231EIF2B5,EIF4G1c.3491G>A (p.Ser1164Asn)
c.3425G>A (p.Ser1142Asn)
c.2838G>A (n.2838G>A)
c.2896G>A (p.Val966Met)
c.3494G>A (p.Ser1165Asn)
c.2999G>A (p.Ser1000Asn)
c.3512G>A (p.Ser1171Asn)
c.3230G>A (p.Ser1077Asn)
c.3374G>A (p.Ser1125Asn)
c.3371G>A (p.Ser1124Asn)
c.3233G>A (p.Ser1078Asn)
c.2906G>A (p.Ser969Asn)
c.2903G>A (p.Ser968Asn)
c.3002G>A (p.Ser1001Asn)
c.*2930G>A (n.*2930G>A)
c.2106+182571G>A (n.2106+182571G>A)
c.652G>A
 dbSNP
3g.184327278G>CCA355414233EIF2B5,EIF4G1c.3491G>C (p.Ser1164Thr)
c.3425G>C (p.Ser1142Thr)
c.2838G>C (n.2838G>C)
c.2896G>C (p.Val966Leu)
c.3494G>C (p.Ser1165Thr)
c.2999G>C (p.Ser1000Thr)
c.3512G>C (p.Ser1171Thr)
c.3230G>C (p.Ser1077Thr)
c.3374G>C (p.Ser1125Thr)
c.3371G>C (p.Ser1124Thr)
c.3233G>C (p.Ser1078Thr)
c.2906G>C (p.Ser969Thr)
c.2903G>C (p.Ser968Thr)
c.3002G>C (p.Ser1001Thr)
c.*2930G>C (n.*2930G>C)
c.2106+182571G>C (n.2106+182571G>C)
c.652G>C
3g.184327278G=CA1425958206EIF2B5,EIF4G1c.3491G= (p.Ser1164=)
c.3425G= (p.Ser1142=)
c.2838G= (n.2838G=)
c.2896G= (p.Val966=)
c.3494G= (p.Ser1165=)
c.2999G= (p.Ser1000=)
c.3512G= (p.Ser1171=)
c.3230G= (p.Ser1077=)
c.3374G= (p.Ser1125=)
c.3371G= (p.Ser1124=)
c.3233G= (p.Ser1078=)
c.2906G= (p.Ser969=)
c.2903G= (p.Ser968=)
c.3002G= (p.Ser1001=)
c.*2930G= (n.*2930G=)
c.2106+182571G= (n.2106+182571G=)
c.652G=
3g.184327278G>TCA355414240EIF2B5,EIF4G1c.3491G>T (p.Ser1164Ile)
c.3425G>T (p.Ser1142Ile)
c.2838G>T (n.2838G>T)
c.2896G>T (p.Val966Leu)
c.3494G>T (p.Ser1165Ile)
c.2999G>T (p.Ser1000Ile)
c.3512G>T (p.Ser1171Ile)
c.3230G>T (p.Ser1077Ile)
c.3374G>T (p.Ser1125Ile)
c.3371G>T (p.Ser1124Ile)
c.3233G>T (p.Ser1078Ile)
c.2906G>T (p.Ser969Ile)
c.2903G>T (p.Ser968Ile)
c.3002G>T (p.Ser1001Ile)
c.*2930G>T (n.*2930G>T)
c.2106+182571G>T (n.2106+182571G>T)
c.652G>T
3g.184327279T>ACA88867554EIF2B5,EIF4G1c.3492T>A (p.Ser1164Arg)
c.3426T>A (p.Ser1142Arg)
c.2839T>A (n.2839T>A)
c.2897T>A (p.Val966Glu)
c.3495T>A (p.Ser1165Arg)
c.3000T>A (p.Ser1000Arg)
c.3513T>A (p.Ser1171Arg)
c.3231T>A (p.Ser1077Arg)
c.3375T>A (p.Ser1125Arg)
c.3372T>A (p.Ser1124Arg)
c.3234T>A (p.Ser1078Arg)
c.2907T>A (p.Ser969Arg)
c.2904T>A (p.Ser968Arg)
c.3003T>A (p.Ser1001Arg)
c.*2931T>A (n.*2931T>A)
c.2106+182572T>A (n.2106+182572T>A)
c.653T>A
 dbSNP
3g.184327279T>CCA355414248EIF2B5,EIF4G1c.3492T>C (p.Ser1164=)
c.3426T>C (p.Ser1142=)
c.2839T>C (n.2839T>C)
c.2897T>C (p.Val966Ala)
c.3495T>C (p.Ser1165=)
c.3000T>C (p.Ser1000=)
c.3513T>C (p.Ser1171=)
c.3231T>C (p.Ser1077=)
c.3375T>C (p.Ser1125=)
c.3372T>C (p.Ser1124=)
c.3234T>C (p.Ser1078=)
c.2907T>C (p.Ser969=)
c.2904T>C (p.Ser968=)
c.3003T>C (p.Ser1001=)
c.*2931T>C (n.*2931T>C)
c.2106+182572T>C (n.2106+182572T>C)
c.653T>C
 gnomAD v4
3g.184327279T>GCA355414249EIF2B5,EIF4G1c.3492T>G (p.Ser1164Arg)
c.3426T>G (p.Ser1142Arg)
c.2839T>G (n.2839T>G)
c.2897T>G (p.Val966Gly)
c.3495T>G (p.Ser1165Arg)
c.3000T>G (p.Ser1000Arg)
c.3513T>G (p.Ser1171Arg)
c.3231T>G (p.Ser1077Arg)
c.3375T>G (p.Ser1125Arg)
c.3372T>G (p.Ser1124Arg)
c.3234T>G (p.Ser1078Arg)
c.2907T>G (p.Ser969Arg)
c.2904T>G (p.Ser968Arg)
c.3003T>G (p.Ser1001Arg)
c.*2931T>G (n.*2931T>G)
c.2106+182572T>G (n.2106+182572T>G)
c.653T>G
3g.184327279T=CA1425958210EIF2B5,EIF4G1c.3492T= (p.Ser1164=)
c.3426T= (p.Ser1142=)
c.2839T= (n.2839T=)
c.2897T= (p.Val966=)
c.3495T= (p.Ser1165=)
c.3000T= (p.Ser1000=)
c.3513T= (p.Ser1171=)
c.3231T= (p.Ser1077=)
c.3375T= (p.Ser1125=)
c.3372T= (p.Ser1124=)
c.3234T= (p.Ser1078=)
c.2907T= (p.Ser969=)
c.2904T= (p.Ser968=)
c.3003T= (p.Ser1001=)
c.*2931T= (n.*2931T=)
c.2106+182572T= (n.2106+182572T=)
c.653T=
3g.184327280G>ACA355414255EIF2B5,EIF4G1c.3493G>A (p.Glu1165Lys)
c.3427G>A (p.Glu1143Lys)
c.2840G>A (n.2840G>A)
c.2898G>A (p.Val966=)
c.3496G>A (p.Glu1166Lys)
c.3001G>A (p.Glu1001Lys)
c.3514G>A (p.Glu1172Lys)
c.3232G>A (p.Glu1078Lys)
c.3376G>A (p.Glu1126Lys)
c.3373G>A (p.Glu1125Lys)
c.3235G>A (p.Glu1079Lys)
c.2908G>A (p.Glu970Lys)
c.2905G>A (p.Glu969Lys)
c.3004G>A (p.Glu1002Lys)
c.*2932G>A (n.*2932G>A)
c.2106+182573G>A (n.2106+182573G>A)
c.654G>A
 gnomAD v4
3g.184327280G>CCA355414257EIF2B5,EIF4G1c.3493G>C (p.Glu1165Gln)
c.3427G>C (p.Glu1143Gln)
c.2840G>C (n.2840G>C)
c.2898G>C (p.Val966=)
c.3496G>C (p.Glu1166Gln)
c.3001G>C (p.Glu1001Gln)
c.3514G>C (p.Glu1172Gln)
c.3232G>C (p.Glu1078Gln)
c.3376G>C (p.Glu1126Gln)
c.3373G>C (p.Glu1125Gln)
c.3235G>C (p.Glu1079Gln)
c.2908G>C (p.Glu970Gln)
c.2905G>C (p.Glu969Gln)
c.3004G>C (p.Glu1002Gln)
c.*2932G>C (n.*2932G>C)
c.2106+182573G>C (n.2106+182573G>C)
c.654G>C
 dbSNP
3g.184327280G=CA1425958214EIF2B5,EIF4G1c.3493G= (p.Glu1165=)
c.3427G= (p.Glu1143=)
c.2840G= (n.2840G=)
c.2898G= (p.Val966=)
c.3496G= (p.Glu1166=)
c.3001G= (p.Glu1001=)
c.3514G= (p.Glu1172=)
c.3232G= (p.Glu1078=)
c.3376G= (p.Glu1126=)
c.3373G= (p.Glu1125=)
c.3235G= (p.Glu1079=)
c.2908G= (p.Glu970=)
c.2905G= (p.Glu969=)
c.3004G= (p.Glu1002=)
c.*2932G= (n.*2932G=)
c.2106+182573G= (n.2106+182573G=)
c.654G=
3g.184327280G>TCA355414258EIF2B5,EIF4G1c.3493G>T (p.Glu1165Ter)
c.3427G>T (p.Glu1143Ter)
c.2840G>T (n.2840G>T)
c.2898G>T (p.Val966=)
c.3496G>T (p.Glu1166Ter)
c.3001G>T (p.Glu1001Ter)
c.3514G>T (p.Glu1172Ter)
c.3232G>T (p.Glu1078Ter)
c.3376G>T (p.Glu1126Ter)
c.3373G>T (p.Glu1125Ter)
c.3235G>T (p.Glu1079Ter)
c.2908G>T (p.Glu970Ter)
c.2905G>T (p.Glu969Ter)
c.3004G>T (p.Glu1002Ter)
c.*2932G>T (n.*2932G>T)
c.2106+182573G>T (n.2106+182573G>T)
c.654G>T
3g.184327281A>CCA355414267EIF2B5,EIF4G1c.3494A>C (p.Glu1165Ala)
c.3428A>C (p.Glu1143Ala)
c.2841A>C (n.2841A>C)
c.2899A>C (p.Asn967His)
c.3497A>C (p.Glu1166Ala)
c.3002A>C (p.Glu1001Ala)
c.3515A>C (p.Glu1172Ala)
c.3233A>C (p.Glu1078Ala)
c.3377A>C (p.Glu1126Ala)
c.3374A>C (p.Glu1125Ala)
c.3236A>C (p.Glu1079Ala)
c.2909A>C (p.Glu970Ala)
c.2906A>C (p.Glu969Ala)
c.3005A>C (p.Glu1002Ala)
c.*2933A>C (n.*2933A>C)
c.2106+182574A>C (n.2106+182574A>C)
c.655A>C
3g.184327281A>GCA355414262EIF2B5,EIF4G1c.3494A>G (p.Glu1165Gly)
c.3428A>G (p.Glu1143Gly)
c.2841A>G (n.2841A>G)
c.2899A>G (p.Asn967Asp)
c.3497A>G (p.Glu1166Gly)
c.3002A>G (p.Glu1001Gly)
c.3515A>G (p.Glu1172Gly)
c.3233A>G (p.Glu1078Gly)
c.3377A>G (p.Glu1126Gly)
c.3374A>G (p.Glu1125Gly)
c.3236A>G (p.Glu1079Gly)
c.2909A>G (p.Glu970Gly)
c.2906A>G (p.Glu969Gly)
c.3005A>G (p.Glu1002Gly)
c.*2933A>G (n.*2933A>G)
c.2106+182574A>G (n.2106+182574A>G)
c.655A>G
3g.184327281A>TCA355414260EIF2B5,EIF4G1c.3494A>T (p.Glu1165Val)
c.3428A>T (p.Glu1143Val)
c.2841A>T (n.2841A>T)
c.2899A>T (p.Asn967Tyr)
c.3497A>T (p.Glu1166Val)
c.3002A>T (p.Glu1001Val)
c.3515A>T (p.Glu1172Val)
c.3233A>T (p.Glu1078Val)
c.3377A>T (p.Glu1126Val)
c.3374A>T (p.Glu1125Val)
c.3236A>T (p.Glu1079Val)
c.2909A>T (p.Glu970Val)
c.2906A>T (p.Glu969Val)
c.3005A>T (p.Glu1002Val)
c.*2933A>T (n.*2933A>T)
c.2106+182574A>T (n.2106+182574A>T)
c.655A>T
3g.184327282A>CCA355414271EIF2B5,EIF4G1c.3495A>C (p.Glu1165Asp)
c.3429A>C (p.Glu1143Asp)
c.2842A>C (n.2842A>C)
c.2900A>C (p.Asn967Thr)
c.3498A>C (p.Glu1166Asp)
c.3003A>C (p.Glu1001Asp)
c.3516A>C (p.Glu1172Asp)
c.3234A>C (p.Glu1078Asp)
c.3378A>C (p.Glu1126Asp)
c.3375A>C (p.Glu1125Asp)
c.3237A>C (p.Glu1079Asp)
c.2910A>C (p.Glu970Asp)
c.2907A>C (p.Glu969Asp)
c.3006A>C (p.Glu1002Asp)
c.*2934A>C (n.*2934A>C)
c.2106+182575A>C (n.2106+182575A>C)
c.656A>C
3g.184327282A>GCA355414273EIF2B5,EIF4G1c.3495A>G (p.Glu1165=)
c.3429A>G (p.Glu1143=)
c.2842A>G (n.2842A>G)
c.2900A>G (p.Asn967Ser)
c.3498A>G (p.Glu1166=)
c.3003A>G (p.Glu1001=)
c.3516A>G (p.Glu1172=)
c.3234A>G (p.Glu1078=)
c.3378A>G (p.Glu1126=)
c.3375A>G (p.Glu1125=)
c.3237A>G (p.Glu1079=)
c.2910A>G (p.Glu970=)
c.2907A>G (p.Glu969=)
c.3006A>G (p.Glu1002=)
c.*2934A>G (n.*2934A>G)
c.2106+182575A>G (n.2106+182575A>G)
c.656A>G
3g.184327282A>TCA355414279EIF2B5,EIF4G1c.3495A>T (p.Glu1165Asp)
c.3429A>T (p.Glu1143Asp)
c.2842A>T (n.2842A>T)
c.2900A>T (p.Asn967Ile)
c.3498A>T (p.Glu1166Asp)
c.3003A>T (p.Glu1001Asp)
c.3516A>T (p.Glu1172Asp)
c.3234A>T (p.Glu1078Asp)
c.3378A>T (p.Glu1126Asp)
c.3375A>T (p.Glu1125Asp)
c.3237A>T (p.Glu1079Asp)
c.2910A>T (p.Glu970Asp)
c.2907A>T (p.Glu969Asp)
c.3006A>T (p.Glu1002Asp)
c.*2934A>T (n.*2934A>T)
c.2106+182575A>T (n.2106+182575A>T)
c.656A>T
3g.184327283C>ACA355414280EIF2B5,EIF4G1c.3496C>A (p.Arg1166=)
c.3430C>A (p.Arg1144=)
c.2843C>A (n.2843C>A)
c.2901C>A (p.Asn967Lys)
c.3499C>A (p.Arg1167=)
c.3004C>A (p.Arg1002=)
c.3517C>A (p.Arg1173=)
c.3235C>A (p.Arg1079=)
c.3379C>A (p.Arg1127=)
c.3376C>A (p.Arg1126=)
c.3238C>A (p.Arg1080=)
c.2911C>A (p.Arg971=)
c.2908C>A (p.Arg970=)
c.3007C>A (p.Arg1003=)
c.*2935C>A (n.*2935C>A)
c.2106+182576C>A (n.2106+182576C>A)
c.657C>A
 gnomAD v4
3g.184327283C=CA1425958218EIF2B5,EIF4G1c.3496C= (p.Arg1166=)
c.3430C= (p.Arg1144=)
c.2843C= (n.2843C=)
c.2901C= (p.Asn967=)
c.3499C= (p.Arg1167=)
c.3004C= (p.Arg1002=)
c.3517C= (p.Arg1173=)
c.3235C= (p.Arg1079=)
c.3379C= (p.Arg1127=)
c.3376C= (p.Arg1126=)
c.3238C= (p.Arg1080=)
c.2911C= (p.Arg971=)
c.2908C= (p.Arg970=)
c.3007C= (p.Arg1003=)
c.*2935C= (n.*2935C=)
c.2106+182576C= (n.2106+182576C=)
c.657C=
3g.184327283C>GCA355414281EIF2B5,EIF4G1c.3496C>G (p.Arg1166Gly)
c.3430C>G (p.Arg1144Gly)
c.2843C>G (n.2843C>G)
c.2901C>G (p.Asn967Lys)
c.3499C>G (p.Arg1167Gly)
c.3004C>G (p.Arg1002Gly)
c.3517C>G (p.Arg1173Gly)
c.3235C>G (p.Arg1079Gly)
c.3379C>G (p.Arg1127Gly)
c.3376C>G (p.Arg1126Gly)
c.3238C>G (p.Arg1080Gly)
c.2911C>G (p.Arg971Gly)
c.2908C>G (p.Arg970Gly)
c.3007C>G (p.Arg1003Gly)
c.*2935C>G (n.*2935C>G)
c.2106+182576C>G (n.2106+182576C>G)
c.657C>G
3g.184327283C>TCA2732827EIF2B5,EIF4G1c.3496C>T (p.Arg1166Trp)
c.3430C>T (p.Arg1144Trp)
c.2843C>T (n.2843C>T)
c.2901C>T (p.Asn967=)
c.3499C>T (p.Arg1167Trp)
c.3004C>T (p.Arg1002Trp)
c.3517C>T (p.Arg1173Trp)
c.3235C>T (p.Arg1079Trp)
c.3379C>T (p.Arg1127Trp)
c.3376C>T (p.Arg1126Trp)
c.3238C>T (p.Arg1080Trp)
c.2911C>T (p.Arg971Trp)
c.2908C>T (p.Arg970Trp)
c.3007C>T (p.Arg1003Trp)
c.*2935C>T (n.*2935C>T)
c.2106+182576C>T (n.2106+182576C>T)
c.657C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
3g.184327284G>ACA2732828EIF2B5,EIF4G1c.3497G>A (p.Arg1166Gln)
c.3431G>A (p.Arg1144Gln)
c.2844G>A (n.2844G>A)
c.2902G>A (p.Gly968Arg)
c.3500G>A (p.Arg1167Gln)
c.3005G>A (p.Arg1002Gln)
c.3518G>A (p.Arg1173Gln)
c.3236G>A (p.Arg1079Gln)
c.3380G>A (p.Arg1127Gln)
c.3377G>A (p.Arg1126Gln)
c.3239G>A (p.Arg1080Gln)
c.2912G>A (p.Arg971Gln)
c.2909G>A (p.Arg970Gln)
c.3008G>A (p.Arg1003Gln)
c.*2936G>A (n.*2936G>A)
c.2106+182577G>A (n.2106+182577G>A)
c.658G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.184327284G>CCA355414286EIF2B5,EIF4G1c.3497G>C (p.Arg1166Pro)
c.3431G>C (p.Arg1144Pro)
c.2844G>C (n.2844G>C)
c.2902G>C (p.Gly968Arg)
c.3500G>C (p.Arg1167Pro)
c.3005G>C (p.Arg1002Pro)
c.3518G>C (p.Arg1173Pro)
c.3236G>C (p.Arg1079Pro)
c.3380G>C (p.Arg1127Pro)
c.3377G>C (p.Arg1126Pro)
c.3239G>C (p.Arg1080Pro)
c.2912G>C (p.Arg971Pro)
c.2909G>C (p.Arg970Pro)
c.3008G>C (p.Arg1003Pro)
c.*2936G>C (n.*2936G>C)
c.2106+182577G>C (n.2106+182577G>C)
c.658G>C
 gnomAD v4
3g.184327284G=CA1425958221EIF2B5,EIF4G1c.3497G= (p.Arg1166=)
c.3431G= (p.Arg1144=)
c.2844G= (n.2844G=)
c.2902G= (p.Gly968=)
c.3500G= (p.Arg1167=)
c.3005G= (p.Arg1002=)
c.3518G= (p.Arg1173=)
c.3236G= (p.Arg1079=)
c.3380G= (p.Arg1127=)
c.3377G= (p.Arg1126=)
c.3239G= (p.Arg1080=)
c.2912G= (p.Arg971=)
c.2909G= (p.Arg970=)
c.3008G= (p.Arg1003=)
c.*2936G= (n.*2936G=)
c.2106+182577G= (n.2106+182577G=)
c.658G=
3g.184327284G>TCA355414290EIF2B5,EIF4G1c.3497G>T (p.Arg1166Leu)
c.3431G>T (p.Arg1144Leu)
c.2844G>T (n.2844G>T)
c.2902G>T (p.Gly968Trp)
c.3500G>T (p.Arg1167Leu)
c.3005G>T (p.Arg1002Leu)
c.3518G>T (p.Arg1173Leu)
c.3236G>T (p.Arg1079Leu)
c.3380G>T (p.Arg1127Leu)
c.3377G>T (p.Arg1126Leu)
c.3239G>T (p.Arg1080Leu)
c.2912G>T (p.Arg971Leu)
c.2909G>T (p.Arg970Leu)
c.3008G>T (p.Arg1003Leu)
c.*2936G>T (n.*2936G>T)
c.2106+182577G>T (n.2106+182577G>T)
c.658G>T
3g.184327285G>ACA355414295EIF2B5,EIF4G1c.3498G>A (p.Arg1166=)
c.3432G>A (p.Arg1144=)
c.2845G>A (n.2845G>A)
c.2903G>A (p.Gly968Glu)
c.3501G>A (p.Arg1167=)
c.3006G>A (p.Arg1002=)
c.3519G>A (p.Arg1173=)
c.3237G>A (p.Arg1079=)
c.3381G>A (p.Arg1127=)
c.3378G>A (p.Arg1126=)
c.3240G>A (p.Arg1080=)
c.2913G>A (p.Arg971=)
c.2910G>A (p.Arg970=)
c.3009G>A (p.Arg1003=)
c.*2937G>A (n.*2937G>A)
c.2106+182578G>A (n.2106+182578G>A)
c.659G>A
 gnomAD v4
3g.184327285G>CCA355414299EIF2B5,EIF4G1c.3498G>C (p.Arg1166=)
c.3432G>C (p.Arg1144=)
c.2845G>C (n.2845G>C)
c.2903G>C (p.Gly968Ala)
c.3501G>C (p.Arg1167=)
c.3006G>C (p.Arg1002=)
c.3519G>C (p.Arg1173=)
c.3237G>C (p.Arg1079=)
c.3381G>C (p.Arg1127=)
c.3378G>C (p.Arg1126=)
c.3240G>C (p.Arg1080=)
c.2913G>C (p.Arg971=)
c.2910G>C (p.Arg970=)
c.3009G>C (p.Arg1003=)
c.*2937G>C (n.*2937G>C)
c.2106+182578G>C (n.2106+182578G>C)
c.659G>C
3g.184327285G>TCA355414302EIF2B5,EIF4G1c.3498G>T (p.Arg1166=)
c.3432G>T (p.Arg1144=)
c.2845G>T (n.2845G>T)
c.2903G>T (p.Gly968Val)
c.3501G>T (p.Arg1167=)
c.3006G>T (p.Arg1002=)
c.3519G>T (p.Arg1173=)
c.3237G>T (p.Arg1079=)
c.3381G>T (p.Arg1127=)
c.3378G>T (p.Arg1126=)
c.3240G>T (p.Arg1080=)
c.2913G>T (p.Arg971=)
c.2910G>T (p.Arg970=)
c.3009G>T (p.Arg1003=)
c.*2937G>T (n.*2937G>T)
c.2106+182578G>T (n.2106+182578G>T)
c.659G>T
3g.184327286G>ACA355414312EIF2B5,EIF4G1c.3499G>A (p.Gly1167Arg)
c.3433G>A (p.Gly1145Arg)
c.2846G>A (n.2846G>A)
c.2904G>A (p.Gly968=)
c.3502G>A (p.Gly1168Arg)
c.3007G>A (p.Gly1003Arg)
c.3520G>A (p.Gly1174Arg)
c.3238G>A (p.Gly1080Arg)
c.3382G>A (p.Gly1128Arg)
c.3379G>A (p.Gly1127Arg)
c.3241G>A (p.Gly1081Arg)
c.2914G>A (p.Gly972Arg)
c.2911G>A (p.Gly971Arg)
c.3010G>A (p.Gly1004Arg)
c.*2938G>A (n.*2938G>A)
c.2106+182579G>A (n.2106+182579G>A)
c.660G>A
n.1G>A
 dbSNP
3g.184327286G>CCA355414306EIF2B5,EIF4G1c.3499G>C (p.Gly1167Arg)
c.3433G>C (p.Gly1145Arg)
c.2846G>C (n.2846G>C)
c.2904G>C (p.Gly968=)
c.3502G>C (p.Gly1168Arg)
c.3007G>C (p.Gly1003Arg)
c.3520G>C (p.Gly1174Arg)
c.3238G>C (p.Gly1080Arg)
c.3382G>C (p.Gly1128Arg)
c.3379G>C (p.Gly1127Arg)
c.3241G>C (p.Gly1081Arg)
c.2914G>C (p.Gly972Arg)
c.2911G>C (p.Gly971Arg)
c.3010G>C (p.Gly1004Arg)
c.*2938G>C (n.*2938G>C)
c.2106+182579G>C (n.2106+182579G>C)
c.660G>C
n.1G>C
3g.184327286G=CA1425958223EIF2B5,EIF4G1c.3499G= (p.Gly1167=)
c.3433G= (p.Gly1145=)
c.2846G= (n.2846G=)
c.2904G= (p.Gly968=)
c.3502G= (p.Gly1168=)
c.3007G= (p.Gly1003=)
c.3520G= (p.Gly1174=)
c.3238G= (p.Gly1080=)
c.3382G= (p.Gly1128=)
c.3379G= (p.Gly1127=)
c.3241G= (p.Gly1081=)
c.2914G= (p.Gly972=)
c.2911G= (p.Gly971=)
c.3010G= (p.Gly1004=)
c.*2938G= (n.*2938G=)
c.2106+182579G= (n.2106+182579G=)
c.660G=
n.1G=
3g.184327286G>TCA355414307EIF2B5,EIF4G1c.3499G>T (p.Gly1167Ter)
c.3433G>T (p.Gly1145Ter)
c.2846G>T (n.2846G>T)
c.2904G>T (p.Gly968=)
c.3502G>T (p.Gly1168Ter)
c.3007G>T (p.Gly1003Ter)
c.3520G>T (p.Gly1174Ter)
c.3238G>T (p.Gly1080Ter)
c.3382G>T (p.Gly1128Ter)
c.3379G>T (p.Gly1127Ter)
c.3241G>T (p.Gly1081Ter)
c.2914G>T (p.Gly972Ter)
c.2911G>T (p.Gly971Ter)
c.3010G>T (p.Gly1004Ter)
c.*2938G>T (n.*2938G>T)
c.2106+182579G>T (n.2106+182579G>T)
c.660G>T
n.1G>T
3g.184327287G>ACA355414315EIF2B5,EIF4G1c.3500G>A (p.Gly1167Glu)
c.3434G>A (p.Gly1145Glu)
c.2847G>A (n.2847G>A)
c.2905G>A (p.Glu969Lys)
c.3503G>A (p.Gly1168Glu)
c.3008G>A (p.Gly1003Glu)
c.3521G>A (p.Gly1174Glu)
c.3239G>A (p.Gly1080Glu)
c.3383G>A (p.Gly1128Glu)
c.3380G>A (p.Gly1127Glu)
c.3242G>A (p.Gly1081Glu)
c.2915G>A (p.Gly972Glu)
c.2912G>A (p.Gly971Glu)
c.3011G>A (p.Gly1004Glu)
c.*2939G>A (n.*2939G>A)
c.2106+182580G>A (n.2106+182580G>A)
c.661G>A
n.2G>A
 dbSNP
3g.184327287G>CCA355414327EIF2B5,EIF4G1c.3500G>C (p.Gly1167Ala)
c.3434G>C (p.Gly1145Ala)
c.2847G>C (n.2847G>C)
c.2905G>C (p.Glu969Gln)
c.3503G>C (p.Gly1168Ala)
c.3008G>C (p.Gly1003Ala)
c.3521G>C (p.Gly1174Ala)
c.3239G>C (p.Gly1080Ala)
c.3383G>C (p.Gly1128Ala)
c.3380G>C (p.Gly1127Ala)
c.3242G>C (p.Gly1081Ala)
c.2915G>C (p.Gly972Ala)
c.2912G>C (p.Gly971Ala)
c.3011G>C (p.Gly1004Ala)
c.*2939G>C (n.*2939G>C)
c.2106+182580G>C (n.2106+182580G>C)
c.661G>C
n.2G>C
3g.184327287G=CA1425958225EIF2B5,EIF4G1c.3500G= (p.Gly1167=)
c.3434G= (p.Gly1145=)
c.2847G= (n.2847G=)
c.2905G= (p.Glu969=)
c.3503G= (p.Gly1168=)
c.3008G= (p.Gly1003=)
c.3521G= (p.Gly1174=)
c.3239G= (p.Gly1080=)
c.3383G= (p.Gly1128=)
c.3380G= (p.Gly1127=)
c.3242G= (p.Gly1081=)
c.2915G= (p.Gly972=)
c.2912G= (p.Gly971=)
c.3011G= (p.Gly1004=)
c.*2939G= (n.*2939G=)
c.2106+182580G= (n.2106+182580G=)
c.661G=
n.2G=
3g.184327287G>TCA355414328EIF2B5,EIF4G1c.3500G>T (p.Gly1167Val)
c.3434G>T (p.Gly1145Val)
c.2847G>T (n.2847G>T)
c.2905G>T (p.Glu969Ter)
c.3503G>T (p.Gly1168Val)
c.3008G>T (p.Gly1003Val)
c.3521G>T (p.Gly1174Val)
c.3239G>T (p.Gly1080Val)
c.3383G>T (p.Gly1128Val)
c.3380G>T (p.Gly1127Val)
c.3242G>T (p.Gly1081Val)
c.2915G>T (p.Gly972Val)
c.2912G>T (p.Gly971Val)
c.3011G>T (p.Gly1004Val)
c.*2939G>T (n.*2939G>T)
c.2106+182580G>T (n.2106+182580G>T)
c.661G>T
n.2G>T
 gnomAD v4
3g.184327288A=CA1425958228EIF2B5,EIF4G1c.3501A= (p.Gly1167=)
c.3435A= (p.Gly1145=)
c.2848A= (n.2848A=)
c.2906A= (p.Glu969=)
c.3504A= (p.Gly1168=)
c.3009A= (p.Gly1003=)
c.3522A= (p.Gly1174=)
c.3240A= (p.Gly1080=)
c.3384A= (p.Gly1128=)
c.3381A= (p.Gly1127=)
c.3243A= (p.Gly1081=)
c.2916A= (p.Gly972=)
c.2913A= (p.Gly971=)
c.3012A= (p.Gly1004=)
c.*2940A= (n.*2940A=)
c.2106+182581A= (n.2106+182581A=)
c.662A=
n.3A=
3g.184327288A>CCA355414332EIF2B5,EIF4G1c.3501A>C (p.Gly1167=)
c.3435A>C (p.Gly1145=)
c.2848A>C (n.2848A>C)
c.2906A>C (p.Glu969Ala)
c.3504A>C (p.Gly1168=)
c.3009A>C (p.Gly1003=)
c.3522A>C (p.Gly1174=)
c.3240A>C (p.Gly1080=)
c.3384A>C (p.Gly1128=)
c.3381A>C (p.Gly1127=)
c.3243A>C (p.Gly1081=)
c.2916A>C (p.Gly972=)
c.2913A>C (p.Gly971=)
c.3012A>C (p.Gly1004=)
c.*2940A>C (n.*2940A>C)
c.2106+182581A>C (n.2106+182581A>C)
c.662A>C
n.3A>C
3g.184327288A>GCA355414333EIF2B5,EIF4G1c.3501A>G (p.Gly1167=)
c.3435A>G (p.Gly1145=)
c.2848A>G (n.2848A>G)
c.2906A>G (p.Glu969Gly)
c.3504A>G (p.Gly1168=)
c.3009A>G (p.Gly1003=)
c.3522A>G (p.Gly1174=)
c.3240A>G (p.Gly1080=)
c.3384A>G (p.Gly1128=)
c.3381A>G (p.Gly1127=)
c.3243A>G (p.Gly1081=)
c.2916A>G (p.Gly972=)
c.2913A>G (p.Gly971=)
c.3012A>G (p.Gly1004=)
c.*2940A>G (n.*2940A>G)
c.2106+182581A>G (n.2106+182581A>G)
c.662A>G
n.3A>G
 dbSNP gnomAD v2 gnomAD v4
3g.184327288A>TCA355414334EIF2B5,EIF4G1c.3501A>T (p.Gly1167=)
c.3435A>T (p.Gly1145=)
c.2848A>T (n.2848A>T)
c.2906A>T (p.Glu969Val)
c.3504A>T (p.Gly1168=)
c.3009A>T (p.Gly1003=)
c.3522A>T (p.Gly1174=)
c.3240A>T (p.Gly1080=)
c.3384A>T (p.Gly1128=)
c.3381A>T (p.Gly1127=)
c.3243A>T (p.Gly1081=)
c.2916A>T (p.Gly972=)
c.2913A>T (p.Gly971=)
c.3012A>T (p.Gly1004=)
c.*2940A>T (n.*2940A>T)
c.2106+182581A>T (n.2106+182581A>T)
c.662A>T
n.3A>T
3g.184327288_184327297delinsAGGGGACCGTCA1425958227EIF2B5,EIF4G1c.3501_3510delinsAGGGGACCGT (p.Gly1167=)
c.3435_3444delinsAGGGGACCGT (p.Gly1145=)
c.2848_2857delinsAGGGGACCGT (n.2848_2857delinsAGGGGACCGT)
c.2906_2915delinsAGGGGACCGT (p.Glu969=)
c.3504_3513delinsAGGGGACCGT (p.Gly1168=)
c.3009_3018delinsAGGGGACCGT (p.Gly1003=)
c.3522_3531delinsAGGGGACCGT (p.Gly1174=)
c.3240_3249delinsAGGGGACCGT (p.Gly1080=)
c.3384_3393delinsAGGGGACCGT (p.Gly1128=)
c.3381_3390delinsAGGGGACCGT (p.Gly1127=)
c.3243_3252delinsAGGGGACCGT (p.Gly1081=)
c.2916_2925delinsAGGGGACCGT (p.Gly972=)
c.2913_2922delinsAGGGGACCGT (p.Gly971=)
c.3012_3021delinsAGGGGACCGT (p.Gly1004=)
c.*2940_*2949delinsAGGGGACCGT (n.*2940_*2949delinsAGGGGACCGT)
c.2106+182581_2106+182590delinsAGGGGACCGT (n.2106+182581_2106+182590delinsAGGGGACCGT)
c.662_671delinsAGGGGACCGT
n.3_12delinsAGGGGACCGT
3g.184327289G>ACA355414336EIF2B5,EIF4G1c.3502G>A (p.Gly1168Arg)
c.3436G>A (p.Gly1146Arg)
c.2849G>A (n.2849G>A)
c.2907G>A (p.Glu969=)
c.3505G>A (p.Gly1169Arg)
c.3010G>A (p.Gly1004Arg)
c.3523G>A (p.Gly1175Arg)
c.3241G>A (p.Gly1081Arg)
c.3385G>A (p.Gly1129Arg)
c.3382G>A (p.Gly1128Arg)
c.3244G>A (p.Gly1082Arg)
c.2917G>A (p.Gly973Arg)
c.2914G>A (p.Gly972Arg)
c.3013G>A (p.Gly1005Arg)
c.*2941G>A (n.*2941G>A)
c.2106+182582G>A (n.2106+182582G>A)
c.663G>A
n.4G>A
3g.184327289G>CCA355414338EIF2B5,EIF4G1c.3502G>C (p.Gly1168Arg)
c.3436G>C (p.Gly1146Arg)
c.2849G>C (n.2849G>C)
c.2907G>C (p.Glu969Asp)
c.3505G>C (p.Gly1169Arg)
c.3010G>C (p.Gly1004Arg)
c.3523G>C (p.Gly1175Arg)
c.3241G>C (p.Gly1081Arg)
c.3385G>C (p.Gly1129Arg)
c.3382G>C (p.Gly1128Arg)
c.3244G>C (p.Gly1082Arg)
c.2917G>C (p.Gly973Arg)
c.2914G>C (p.Gly972Arg)
c.3013G>C (p.Gly1005Arg)
c.*2941G>C (n.*2941G>C)
c.2106+182582G>C (n.2106+182582G>C)
c.663G>C
n.4G>C
3g.184327289G>TCA355414342EIF2B5,EIF4G1c.3502G>T (p.Gly1168Trp)
c.3436G>T (p.Gly1146Trp)
c.2849G>T (n.2849G>T)
c.2907G>T (p.Glu969Asp)
c.3505G>T (p.Gly1169Trp)
c.3010G>T (p.Gly1004Trp)
c.3523G>T (p.Gly1175Trp)
c.3241G>T (p.Gly1081Trp)
c.3385G>T (p.Gly1129Trp)
c.3382G>T (p.Gly1128Trp)
c.3244G>T (p.Gly1082Trp)
c.2917G>T (p.Gly973Trp)
c.2914G>T (p.Gly972Trp)
c.3013G>T (p.Gly1005Trp)
c.*2941G>T (n.*2941G>T)
c.2106+182582G>T (n.2106+182582G>T)
c.663G>T
n.4G>T
3g.184327297_184327305delCA548795602EIF2B5,EIF4G1c.3510_3518del (p.Gly1171_Arg1173del)
c.3444_3452del (p.Gly1149_Arg1151del)
c.2857_2865del (n.2857_2865del)
c.2915_2923del (p.Val972_Thr974del)
c.3513_3521del (p.Gly1172_Arg1174del)
c.3018_3026del (p.Gly1007_Arg1009del)
c.3531_3539del (p.Gly1178_Arg1180del)
c.3249_3257del (p.Gly1084_Arg1086del)
c.3393_3401del (p.Gly1132_Arg1134del)
c.3390_3398del (p.Gly1131_Arg1133del)
c.3252_3260del (p.Gly1085_Arg1087del)
c.2925_2933del (p.Gly976_Arg978del)
c.2922_2930del (p.Gly975_Arg977del)
c.3021_3029del (p.Gly1008_Arg1010del)
c.*2949_*2957del (n.*2949_*2957del)
c.2106+182590_2106+182598del (n.2106+182590_2106+182598del)
n.12_20del
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.184327290G>ACA355414346EIF2B5,EIF4G1c.3503G>A (p.Gly1168Glu)
c.3437G>A (p.Gly1146Glu)
c.2850G>A (n.2850G>A)
c.2908G>A (p.Gly970Arg)
c.3506G>A (p.Gly1169Glu)
c.3011G>A (p.Gly1004Glu)
c.3524G>A (p.Gly1175Glu)
c.3242G>A (p.Gly1081Glu)
c.3386G>A (p.Gly1129Glu)
c.3383G>A (p.Gly1128Glu)
c.3245G>A (p.Gly1082Glu)
c.2918G>A (p.Gly973Glu)
c.2915G>A (p.Gly972Glu)
c.3014G>A (p.Gly1005Glu)
c.*2942G>A (n.*2942G>A)
c.2106+182583G>A (n.2106+182583G>A)
c.664G>A
n.5G>A
3g.184327290G>CCA355414349EIF2B5,EIF4G1c.3503G>C (p.Gly1168Ala)
c.3437G>C (p.Gly1146Ala)
c.2850G>C (n.2850G>C)
c.2908G>C (p.Gly970Arg)
c.3506G>C (p.Gly1169Ala)
c.3011G>C (p.Gly1004Ala)
c.3524G>C (p.Gly1175Ala)
c.3242G>C (p.Gly1081Ala)
c.3386G>C (p.Gly1129Ala)
c.3383G>C (p.Gly1128Ala)
c.3245G>C (p.Gly1082Ala)
c.2918G>C (p.Gly973Ala)
c.2915G>C (p.Gly972Ala)
c.3014G>C (p.Gly1005Ala)
c.*2942G>C (n.*2942G>C)
c.2106+182583G>C (n.2106+182583G>C)
c.664G>C
n.5G>C
3g.184327290G>TCA355414352EIF2B5,EIF4G1c.3503G>T (p.Gly1168Val)
c.3437G>T (p.Gly1146Val)
c.2850G>T (n.2850G>T)
c.2908G>T (p.Gly970Trp)
c.3506G>T (p.Gly1169Val)
c.3011G>T (p.Gly1004Val)
c.3524G>T (p.Gly1175Val)
c.3242G>T (p.Gly1081Val)
c.3386G>T (p.Gly1129Val)
c.3383G>T (p.Gly1128Val)
c.3245G>T (p.Gly1082Val)
c.2918G>T (p.Gly973Val)
c.2915G>T (p.Gly972Val)
c.3014G>T (p.Gly1005Val)
c.*2942G>T (n.*2942G>T)
c.2106+182583G>T (n.2106+182583G>T)
c.664G>T
n.5G>T
3g.184327291G>ACA355414361EIF2B5,EIF4G1c.3504G>A (p.Gly1168=)
c.3438G>A (p.Gly1146=)
c.2851G>A (n.2851G>A)
c.2909G>A (p.Gly970Glu)
c.3507G>A (p.Gly1169=)
c.3012G>A (p.Gly1004=)
c.3525G>A (p.Gly1175=)
c.3243G>A (p.Gly1081=)
c.3387G>A (p.Gly1129=)
c.3384G>A (p.Gly1128=)
c.3246G>A (p.Gly1082=)
c.2919G>A (p.Gly973=)
c.2916G>A (p.Gly972=)
c.3015G>A (p.Gly1005=)
c.*2943G>A (n.*2943G>A)
c.2106+182584G>A (n.2106+182584G>A)
c.665G>A
n.6G>A
3g.184327291G>CCA355414365EIF2B5,EIF4G1c.3504G>C (p.Gly1168=)
c.3438G>C (p.Gly1146=)
c.2851G>C (n.2851G>C)
c.2909G>C (p.Gly970Ala)
c.3507G>C (p.Gly1169=)
c.3012G>C (p.Gly1004=)
c.3525G>C (p.Gly1175=)
c.3243G>C (p.Gly1081=)
c.3387G>C (p.Gly1129=)
c.3384G>C (p.Gly1128=)
c.3246G>C (p.Gly1082=)
c.2919G>C (p.Gly973=)
c.2916G>C (p.Gly972=)
c.3015G>C (p.Gly1005=)
c.*2943G>C (n.*2943G>C)
c.2106+182584G>C (n.2106+182584G>C)
c.665G>C
n.6G>C
3g.184327291G>TCA355414358EIF2B5,EIF4G1c.3504G>T (p.Gly1168=)
c.3438G>T (p.Gly1146=)
c.2851G>T (n.2851G>T)
c.2909G>T (p.Gly970Val)
c.3507G>T (p.Gly1169=)
c.3012G>T (p.Gly1004=)
c.3525G>T (p.Gly1175=)
c.3243G>T (p.Gly1081=)
c.3387G>T (p.Gly1129=)
c.3384G>T (p.Gly1128=)
c.3246G>T (p.Gly1082=)
c.2919G>T (p.Gly973=)
c.2916G>T (p.Gly972=)
c.3015G>T (p.Gly1005=)
c.*2943G>T (n.*2943G>T)
c.2106+182584G>T (n.2106+182584G>T)
c.665G>T
n.6G>T
3g.184327292G>ACA355414391EIF2B5,EIF4G1c.3505G>A (p.Asp1169Asn)
c.3439G>A (p.Asp1147Asn)
c.2852G>A (n.2852G>A)
c.2910G>A (p.Gly970=)
c.3508G>A (p.Asp1170Asn)
c.3013G>A (p.Asp1005Asn)
c.3526G>A (p.Asp1176Asn)
c.3244G>A (p.Asp1082Asn)
c.3388G>A (p.Asp1130Asn)
c.3385G>A (p.Asp1129Asn)
c.3247G>A (p.Asp1083Asn)
c.2920G>A (p.Asp974Asn)
c.2917G>A (p.Asp973Asn)
c.3016G>A (p.Asp1006Asn)
c.*2944G>A (n.*2944G>A)
c.2106+182585G>A (n.2106+182585G>A)
c.666G>A
n.7G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.184327292G>CCA355414372EIF2B5,EIF4G1c.3505G>C (p.Asp1169His)
c.3439G>C (p.Asp1147His)
c.2852G>C (n.2852G>C)
c.2910G>C (p.Gly970=)
c.3508G>C (p.Asp1170His)
c.3013G>C (p.Asp1005His)
c.3526G>C (p.Asp1176His)
c.3244G>C (p.Asp1082His)
c.3388G>C (p.Asp1130His)
c.3385G>C (p.Asp1129His)
c.3247G>C (p.Asp1083His)
c.2920G>C (p.Asp974His)
c.2917G>C (p.Asp973His)
c.3016G>C (p.Asp1006His)
c.*2944G>C (n.*2944G>C)
c.2106+182585G>C (n.2106+182585G>C)
c.666G>C
n.7G>C
3g.184327292G=CA1425958232EIF2B5,EIF4G1c.3505G= (p.Asp1169=)
c.3439G= (p.Asp1147=)
c.2852G= (n.2852G=)
c.2910G= (p.Gly970=)
c.3508G= (p.Asp1170=)
c.3013G= (p.Asp1005=)
c.3526G= (p.Asp1176=)
c.3244G= (p.Asp1082=)
c.3388G= (p.Asp1130=)
c.3385G= (p.Asp1129=)
c.3247G= (p.Asp1083=)
c.2920G= (p.Asp974=)
c.2917G= (p.Asp973=)
c.3016G= (p.Asp1006=)
c.*2944G= (n.*2944G=)
c.2106+182585G= (n.2106+182585G=)
c.666G=
n.7G=
3g.184327292G>TCA355414393EIF2B5,EIF4G1c.3505G>T (p.Asp1169Tyr)
c.3439G>T (p.Asp1147Tyr)
c.2852G>T (n.2852G>T)
c.2910G>T (p.Gly970=)
c.3508G>T (p.Asp1170Tyr)
c.3013G>T (p.Asp1005Tyr)
c.3526G>T (p.Asp1176Tyr)
c.3244G>T (p.Asp1082Tyr)
c.3388G>T (p.Asp1130Tyr)
c.3385G>T (p.Asp1129Tyr)
c.3247G>T (p.Asp1083Tyr)
c.2920G>T (p.Asp974Tyr)
c.2917G>T (p.Asp973Tyr)
c.3016G>T (p.Asp1006Tyr)
c.*2944G>T (n.*2944G>T)
c.2106+182585G>T (n.2106+182585G>T)
c.666G>T
n.7G>T
3g.184327293A>CCA355414396EIF2B5,EIF4G1c.3506A>C (p.Asp1169Ala)
c.3440A>C (p.Asp1147Ala)
c.2853A>C (n.2853A>C)
c.2911A>C (p.Thr971Pro)
c.3509A>C (p.Asp1170Ala)
c.3014A>C (p.Asp1005Ala)
c.3527A>C (p.Asp1176Ala)
c.3245A>C (p.Asp1082Ala)
c.3389A>C (p.Asp1130Ala)
c.3386A>C (p.Asp1129Ala)
c.3248A>C (p.Asp1083Ala)
c.2921A>C (p.Asp974Ala)
c.2918A>C (p.Asp973Ala)
c.3017A>C (p.Asp1006Ala)
c.*2945A>C (n.*2945A>C)
c.2106+182586A>C (n.2106+182586A>C)
c.667A>C
n.8A>C
3g.184327293A>GCA355414401EIF2B5,EIF4G1c.3506A>G (p.Asp1169Gly)
c.3440A>G (p.Asp1147Gly)
c.2853A>G (n.2853A>G)
c.2911A>G (p.Thr971Ala)
c.3509A>G (p.Asp1170Gly)
c.3014A>G (p.Asp1005Gly)
c.3527A>G (p.Asp1176Gly)
c.3245A>G (p.Asp1082Gly)
c.3389A>G (p.Asp1130Gly)
c.3386A>G (p.Asp1129Gly)
c.3248A>G (p.Asp1083Gly)
c.2921A>G (p.Asp974Gly)
c.2918A>G (p.Asp973Gly)
c.3017A>G (p.Asp1006Gly)
c.*2945A>G (n.*2945A>G)
c.2106+182586A>G (n.2106+182586A>G)
c.667A>G
n.8A>G
3g.184327293A>TCA355414405EIF2B5,EIF4G1c.3506A>T (p.Asp1169Val)
c.3440A>T (p.Asp1147Val)
c.2853A>T (n.2853A>T)
c.2911A>T (p.Thr971Ser)
c.3509A>T (p.Asp1170Val)
c.3014A>T (p.Asp1005Val)
c.3527A>T (p.Asp1176Val)
c.3245A>T (p.Asp1082Val)
c.3389A>T (p.Asp1130Val)
c.3386A>T (p.Asp1129Val)
c.3248A>T (p.Asp1083Val)
c.2921A>T (p.Asp974Val)
c.2918A>T (p.Asp973Val)
c.3017A>T (p.Asp1006Val)
c.*2945A>T (n.*2945A>T)
c.2106+182586A>T (n.2106+182586A>T)
c.667A>T
n.8A>T
3g.184327294C>ACA355414408EIF2B5,EIF4G1c.3507C>A (p.Asp1169Glu)
c.3441C>A (p.Asp1147Glu)
c.2854C>A (n.2854C>A)
c.2912C>A (p.Thr971Asn)
c.3510C>A (p.Asp1170Glu)
c.3015C>A (p.Asp1005Glu)
c.3528C>A (p.Asp1176Glu)
c.3246C>A (p.Asp1082Glu)
c.3390C>A (p.Asp1130Glu)
c.3387C>A (p.Asp1129Glu)
c.3249C>A (p.Asp1083Glu)
c.2922C>A (p.Asp974Glu)
c.2919C>A (p.Asp973Glu)
c.3018C>A (p.Asp1006Glu)
c.*2946C>A (n.*2946C>A)
c.2106+182587C>A (n.2106+182587C>A)
c.668C>A
n.9C>A
3g.184327294C>GCA355414411EIF2B5,EIF4G1c.3507C>G (p.Asp1169Glu)
c.3441C>G (p.Asp1147Glu)
c.2854C>G (n.2854C>G)
c.2912C>G (p.Thr971Ser)
c.3510C>G (p.Asp1170Glu)
c.3015C>G (p.Asp1005Glu)
c.3528C>G (p.Asp1176Glu)
c.3246C>G (p.Asp1082Glu)
c.3390C>G (p.Asp1130Glu)
c.3387C>G (p.Asp1129Glu)
c.3249C>G (p.Asp1083Glu)
c.2922C>G (p.Asp974Glu)
c.2919C>G (p.Asp973Glu)
c.3018C>G (p.Asp1006Glu)
c.*2946C>G (n.*2946C>G)
c.2106+182587C>G (n.2106+182587C>G)
c.668C>G
n.9C>G
3g.184327294C>TCA355414415EIF2B5,EIF4G1c.3507C>T (p.Asp1169=)
c.3441C>T (p.Asp1147=)
c.2854C>T (n.2854C>T)
c.2912C>T (p.Thr971Ile)
c.3510C>T (p.Asp1170=)
c.3015C>T (p.Asp1005=)
c.3528C>T (p.Asp1176=)
c.3246C>T (p.Asp1082=)
c.3390C>T (p.Asp1130=)
c.3387C>T (p.Asp1129=)
c.3249C>T (p.Asp1083=)
c.2922C>T (p.Asp974=)
c.2919C>T (p.Asp973=)
c.3018C>T (p.Asp1006=)
c.*2946C>T (n.*2946C>T)
c.2106+182587C>T (n.2106+182587C>T)
c.668C>T
n.9C>T
3g.184327295C>ACA355414427EIF2B5,EIF4G1c.3508C>A (p.Arg1170Ser)
c.3442C>A (p.Arg1148Ser)
c.2855C>A (n.2855C>A)
c.2913C>A (p.Thr971=)
c.3511C>A (p.Arg1171Ser)
c.3016C>A (p.Arg1006Ser)
c.3529C>A (p.Arg1177Ser)
c.3247C>A (p.Arg1083Ser)
c.3391C>A (p.Arg1131Ser)
c.3388C>A (p.Arg1130Ser)
c.3250C>A (p.Arg1084Ser)
c.2923C>A (p.Arg975Ser)
c.2920C>A (p.Arg974Ser)
c.3019C>A (p.Arg1007Ser)
c.*2947C>A (n.*2947C>A)
c.2106+182588C>A (n.2106+182588C>A)
c.669C>A
n.10C>A
 dbSNP gnomAD v3 gnomAD v4
3g.184327295C=CA1425958237EIF2B5,EIF4G1c.3508C= (p.Arg1170=)
c.3442C= (p.Arg1148=)
c.2855C= (n.2855C=)
c.2913C= (p.Thr971=)
c.3511C= (p.Arg1171=)
c.3016C= (p.Arg1006=)
c.3529C= (p.Arg1177=)
c.3247C= (p.Arg1083=)
c.3391C= (p.Arg1131=)
c.3388C= (p.Arg1130=)
c.3250C= (p.Arg1084=)
c.2923C= (p.Arg975=)
c.2920C= (p.Arg974=)
c.3019C= (p.Arg1007=)
c.*2947C= (n.*2947C=)
c.2106+182588C= (n.2106+182588C=)
c.669C=
n.10C=
3g.184327295C>GCA355414422EIF2B5,EIF4G1c.3508C>G (p.Arg1170Gly)
c.3442C>G (p.Arg1148Gly)
c.2855C>G (n.2855C>G)
c.2913C>G (p.Thr971=)
c.3511C>G (p.Arg1171Gly)
c.3016C>G (p.Arg1006Gly)
c.3529C>G (p.Arg1177Gly)
c.3247C>G (p.Arg1083Gly)
c.3391C>G (p.Arg1131Gly)
c.3388C>G (p.Arg1130Gly)
c.3250C>G (p.Arg1084Gly)
c.2923C>G (p.Arg975Gly)
c.2920C>G (p.Arg974Gly)
c.3019C>G (p.Arg1007Gly)
c.*2947C>G (n.*2947C>G)
c.2106+182588C>G (n.2106+182588C>G)
c.669C>G
n.10C>G
3g.184327295C>TCA2732829EIF2B5,EIF4G1c.3508C>T (p.Arg1170Cys)
c.3442C>T (p.Arg1148Cys)
c.2855C>T (n.2855C>T)
c.2913C>T (p.Thr971=)
c.3511C>T (p.Arg1171Cys)
c.3016C>T (p.Arg1006Cys)
c.3529C>T (p.Arg1177Cys)
c.3247C>T (p.Arg1083Cys)
c.3391C>T (p.Arg1131Cys)
c.3388C>T (p.Arg1130Cys)
c.3250C>T (p.Arg1084Cys)
c.2923C>T (p.Arg975Cys)
c.2920C>T (p.Arg974Cys)
c.3019C>T (p.Arg1007Cys)
c.*2947C>T (n.*2947C>T)
c.2106+182588C>T (n.2106+182588C>T)
c.669C>T
n.10C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.184327296G>ACA2732830EIF2B5,EIF4G1c.3509G>A (p.Arg1170His)
c.3443G>A (p.Arg1148His)
c.2856G>A (n.2856G>A)
c.2914G>A (p.Val972Met)
c.3512G>A (p.Arg1171His)
c.3017G>A (p.Arg1006His)
c.3530G>A (p.Arg1177His)
c.3248G>A (p.Arg1083His)
c.3392G>A (p.Arg1131His)
c.3389G>A (p.Arg1130His)
c.3251G>A (p.Arg1084His)
c.2924G>A (p.Arg975His)
c.2921G>A (p.Arg974His)
c.3020G>A (p.Arg1007His)
c.*2948G>A (n.*2948G>A)
c.2106+182589G>A (n.2106+182589G>A)
c.670G>A
n.11G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
3g.184327296G>CCA355414436EIF2B5,EIF4G1c.3509G>C (p.Arg1170Pro)
c.3443G>C (p.Arg1148Pro)
c.2856G>C (n.2856G>C)
c.2914G>C (p.Val972Leu)
c.3512G>C (p.Arg1171Pro)
c.3017G>C (p.Arg1006Pro)
c.3530G>C (p.Arg1177Pro)
c.3248G>C (p.Arg1083Pro)
c.3392G>C (p.Arg1131Pro)
c.3389G>C (p.Arg1130Pro)
c.3251G>C (p.Arg1084Pro)
c.2924G>C (p.Arg975Pro)
c.2921G>C (p.Arg974Pro)
c.3020G>C (p.Arg1007Pro)
c.*2948G>C (n.*2948G>C)
c.2106+182589G>C (n.2106+182589G>C)
c.670G>C
n.11G>C
3g.184327296G=CA1425958240EIF2B5,EIF4G1c.3509G= (p.Arg1170=)
c.3443G= (p.Arg1148=)
c.2856G= (n.2856G=)
c.2914G= (p.Val972=)
c.3512G= (p.Arg1171=)
c.3017G= (p.Arg1006=)
c.3530G= (p.Arg1177=)
c.3248G= (p.Arg1083=)
c.3392G= (p.Arg1131=)
c.3389G= (p.Arg1130=)
c.3251G= (p.Arg1084=)
c.2924G= (p.Arg975=)
c.2921G= (p.Arg974=)
c.3020G= (p.Arg1007=)
c.*2948G= (n.*2948G=)
c.2106+182589G= (n.2106+182589G=)
c.670G=
n.11G=
3g.184327296G>TCA2732831EIF2B5,EIF4G1c.3509G>T (p.Arg1170Leu)
c.3443G>T (p.Arg1148Leu)
c.2856G>T (n.2856G>T)
c.2914G>T (p.Val972Leu)
c.3512G>T (p.Arg1171Leu)
c.3017G>T (p.Arg1006Leu)
c.3530G>T (p.Arg1177Leu)
c.3248G>T (p.Arg1083Leu)
c.3392G>T (p.Arg1131Leu)
c.3389G>T (p.Arg1130Leu)
c.3251G>T (p.Arg1084Leu)
c.2924G>T (p.Arg975Leu)
c.2921G>T (p.Arg974Leu)
c.3020G>T (p.Arg1007Leu)
c.*2948G>T (n.*2948G>T)
c.2106+182589G>T (n.2106+182589G>T)
c.670G>T
n.11G>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.184327297T>ACA355414446EIF2B5,EIF4G1c.3510T>A (p.Arg1170=)
c.3444T>A (p.Arg1148=)
c.2857T>A (n.2857T>A)
c.2915T>A (p.Val972Glu)
c.3513T>A (p.Arg1171=)
c.3018T>A (p.Arg1006=)
c.3531T>A (p.Arg1177=)
c.3249T>A (p.Arg1083=)
c.3393T>A (p.Arg1131=)
c.3390T>A (p.Arg1130=)
c.3252T>A (p.Arg1084=)
c.2925T>A (p.Arg975=)
c.2922T>A (p.Arg974=)
c.3021T>A (p.Arg1007=)
c.*2949T>A (n.*2949T>A)
c.2106+182590T>A (n.2106+182590T>A)
c.671T>A
n.12T>A
3g.184327297T>CCA355414448EIF2B5,EIF4G1c.3510T>C (p.Arg1170=)
c.3444T>C (p.Arg1148=)
c.2857T>C (n.2857T>C)
c.2915T>C (p.Val972Ala)
c.3513T>C (p.Arg1171=)
c.3018T>C (p.Arg1006=)
c.3531T>C (p.Arg1177=)
c.3249T>C (p.Arg1083=)
c.3393T>C (p.Arg1131=)
c.3390T>C (p.Arg1130=)
c.3252T>C (p.Arg1084=)
c.2925T>C (p.Arg975=)
c.2922T>C (p.Arg974=)
c.3021T>C (p.Arg1007=)
c.*2949T>C (n.*2949T>C)
c.2106+182590T>C (n.2106+182590T>C)
c.671T>C
n.12T>C
3g.184327297T>GCA355414453EIF2B5,EIF4G1c.3510T>G (p.Arg1170=)
c.3444T>G (p.Arg1148=)
c.2857T>G (n.2857T>G)
c.2915T>G (p.Val972Gly)
c.3513T>G (p.Arg1171=)
c.3018T>G (p.Arg1006=)
c.3531T>G (p.Arg1177=)
c.3249T>G (p.Arg1083=)
c.3393T>G (p.Arg1131=)
c.3390T>G (p.Arg1130=)
c.3252T>G (p.Arg1084=)
c.2925T>G (p.Arg975=)
c.2922T>G (p.Arg974=)
c.3021T>G (p.Arg1007=)
c.*2949T>G (n.*2949T>G)
c.2106+182590T>G (n.2106+182590T>G)
c.671T>G
n.12T>G
3g.184327298G>ACA355414457EIF2B5,EIF4G1c.3511G>A (p.Gly1171Arg)
c.3445G>A (p.Gly1149Arg)
c.2858G>A (n.2858G>A)
c.2916G>A (p.Val972=)
c.3514G>A (p.Gly1172Arg)
c.3019G>A (p.Gly1007Arg)
c.3532G>A (p.Gly1178Arg)
c.3250G>A (p.Gly1084Arg)
c.3394G>A (p.Gly1132Arg)
c.3391G>A (p.Gly1131Arg)
c.3253G>A (p.Gly1085Arg)
c.2926G>A (p.Gly976Arg)
c.2923G>A (p.Gly975Arg)
c.3022G>A (p.Gly1008Arg)
c.*2950G>A (n.*2950G>A)
c.2106+182591G>A (n.2106+182591G>A)
c.672G>A
n.13G>A
3g.184327298G>CCA355414465EIF2B5,EIF4G1c.3511G>C (p.Gly1171Arg)
c.3445G>C (p.Gly1149Arg)
c.2858G>C (n.2858G>C)
c.2916G>C (p.Val972=)
c.3514G>C (p.Gly1172Arg)
c.3019G>C (p.Gly1007Arg)
c.3532G>C (p.Gly1178Arg)
c.3250G>C (p.Gly1084Arg)
c.3394G>C (p.Gly1132Arg)
c.3391G>C (p.Gly1131Arg)
c.3253G>C (p.Gly1085Arg)
c.2926G>C (p.Gly976Arg)
c.2923G>C (p.Gly975Arg)
c.3022G>C (p.Gly1008Arg)
c.*2950G>C (n.*2950G>C)
c.2106+182591G>C (n.2106+182591G>C)
c.672G>C
n.13G>C
3g.184327298G>TCA355414462EIF2B5,EIF4G1c.3511G>T (p.Gly1171Trp)
c.3445G>T (p.Gly1149Trp)
c.2858G>T (n.2858G>T)
c.2916G>T (p.Val972=)
c.3514G>T (p.Gly1172Trp)
c.3019G>T (p.Gly1007Trp)
c.3532G>T (p.Gly1178Trp)
c.3250G>T (p.Gly1084Trp)
c.3394G>T (p.Gly1132Trp)
c.3391G>T (p.Gly1131Trp)
c.3253G>T (p.Gly1085Trp)
c.2926G>T (p.Gly976Trp)
c.2923G>T (p.Gly975Trp)
c.3022G>T (p.Gly1008Trp)
c.*2950G>T (n.*2950G>T)
c.2106+182591G>T (n.2106+182591G>T)
c.672G>T
n.13G>T
3g.184327299G>ACA355414469EIF2B5,EIF4G1c.3512G>A (p.Gly1171Glu)
c.3446G>A (p.Gly1149Glu)
c.2859G>A (n.2859G>A)
c.2917G>A (p.Gly973Arg)
c.3515G>A (p.Gly1172Glu)
c.3020G>A (p.Gly1007Glu)
c.3533G>A (p.Gly1178Glu)
c.3251G>A (p.Gly1084Glu)
c.3395G>A (p.Gly1132Glu)
c.3392G>A (p.Gly1131Glu)
c.3254G>A (p.Gly1085Glu)
c.2927G>A (p.Gly976Glu)
c.2924G>A (p.Gly975Glu)
c.3023G>A (p.Gly1008Glu)
c.*2951G>A (n.*2951G>A)
c.2106+182592G>A (n.2106+182592G>A)
c.673G>A
n.14G>A
3g.184327299G>CCA355414472EIF2B5,EIF4G1c.3512G>C (p.Gly1171Ala)
c.3446G>C (p.Gly1149Ala)
c.2859G>C (n.2859G>C)
c.2917G>C (p.Gly973Arg)
c.3515G>C (p.Gly1172Ala)
c.3020G>C (p.Gly1007Ala)
c.3533G>C (p.Gly1178Ala)
c.3251G>C (p.Gly1084Ala)
c.3395G>C (p.Gly1132Ala)
c.3392G>C (p.Gly1131Ala)
c.3254G>C (p.Gly1085Ala)
c.2927G>C (p.Gly976Ala)
c.2924G>C (p.Gly975Ala)
c.3023G>C (p.Gly1008Ala)
c.*2951G>C (n.*2951G>C)
c.2106+182592G>C (n.2106+182592G>C)
c.673G>C
n.14G>C
3g.184327299G>TCA355414476EIF2B5,EIF4G1c.3512G>T (p.Gly1171Val)
c.3446G>T (p.Gly1149Val)
c.2859G>T (n.2859G>T)
c.2917G>T (p.Gly973Trp)
c.3515G>T (p.Gly1172Val)
c.3020G>T (p.Gly1007Val)
c.3533G>T (p.Gly1178Val)
c.3251G>T (p.Gly1084Val)
c.3395G>T (p.Gly1132Val)
c.3392G>T (p.Gly1131Val)
c.3254G>T (p.Gly1085Val)
c.2927G>T (p.Gly976Val)
c.2924G>T (p.Gly975Val)
c.3023G>T (p.Gly1008Val)
c.*2951G>T (n.*2951G>T)
c.2106+182592G>T (n.2106+182592G>T)
c.673G>T
n.14G>T
3g.184327300G>ACA355414485EIF2B5,EIF4G1c.3513G>A (p.Gly1171=)
c.3447G>A (p.Gly1149=)
c.2860G>A (n.2860G>A)
c.2918G>A (p.Gly973Glu)
c.3516G>A (p.Gly1172=)
c.3021G>A (p.Gly1007=)
c.3534G>A (p.Gly1178=)
c.3252G>A (p.Gly1084=)
c.3396G>A (p.Gly1132=)
c.3393G>A (p.Gly1131=)
c.3255G>A (p.Gly1085=)
c.2928G>A (p.Gly976=)
c.2925G>A (p.Gly975=)
c.3024G>A (p.Gly1008=)
c.*2952G>A (n.*2952G>A)
c.2106+182593G>A (n.2106+182593G>A)
c.674G>A
n.15G>A
3g.184327300G>CCA355414489EIF2B5,EIF4G1c.3513G>C (p.Gly1171=)
c.3447G>C (p.Gly1149=)
c.2860G>C (n.2860G>C)
c.2918G>C (p.Gly973Ala)
c.3516G>C (p.Gly1172=)
c.3021G>C (p.Gly1007=)
c.3534G>C (p.Gly1178=)
c.3252G>C (p.Gly1084=)
c.3396G>C (p.Gly1132=)
c.3393G>C (p.Gly1131=)
c.3255G>C (p.Gly1085=)
c.2928G>C (p.Gly976=)
c.2925G>C (p.Gly975=)
c.3024G>C (p.Gly1008=)
c.*2952G>C (n.*2952G>C)
c.2106+182593G>C (n.2106+182593G>C)
c.674G>C
n.15G>C
 dbSNP gnomAD v2 gnomAD v4
3g.184327300G=CA1425958243EIF2B5,EIF4G1c.3513G= (p.Gly1171=)
c.3447G= (p.Gly1149=)
c.2860G= (n.2860G=)
c.2918G= (p.Gly973=)
c.3516G= (p.Gly1172=)
c.3021G= (p.Gly1007=)
c.3534G= (p.Gly1178=)
c.3252G= (p.Gly1084=)
c.3396G= (p.Gly1132=)
c.3393G= (p.Gly1131=)
c.3255G= (p.Gly1085=)
c.2928G= (p.Gly976=)
c.2925G= (p.Gly975=)
c.3024G= (p.Gly1008=)
c.*2952G= (n.*2952G=)
c.2106+182593G= (n.2106+182593G=)
c.674G=
n.15G=
3g.184327300G>TCA355414495EIF2B5,EIF4G1c.3513G>T (p.Gly1171=)
c.3447G>T (p.Gly1149=)
c.2860G>T (n.2860G>T)
c.2918G>T (p.Gly973Val)
c.3516G>T (p.Gly1172=)
c.3021G>T (p.Gly1007=)
c.3534G>T (p.Gly1178=)
c.3252G>T (p.Gly1084=)
c.3396G>T (p.Gly1132=)
c.3393G>T (p.Gly1131=)
c.3255G>T (p.Gly1085=)
c.2928G>T (p.Gly976=)
c.2925G>T (p.Gly975=)
c.3024G>T (p.Gly1008=)
c.*2952G>T (n.*2952G>T)
c.2106+182593G>T (n.2106+182593G>T)
c.674G>T
n.15G>T
3g.184327301G>ACA355414500EIF2B5,EIF4G1c.3514G>A (p.Asp1172Asn)
c.3448G>A (p.Asp1150Asn)
c.2861G>A (n.2861G>A)
c.2919G>A (p.Gly973=)
c.3517G>A (p.Asp1173Asn)
c.3022G>A (p.Asp1008Asn)
c.3535G>A (p.Asp1179Asn)
c.3253G>A (p.Asp1085Asn)
c.3397G>A (p.Asp1133Asn)
c.3394G>A (p.Asp1132Asn)
c.3256G>A (p.Asp1086Asn)
c.2929G>A (p.Asp977Asn)
c.2926G>A (p.Asp976Asn)
c.3025G>A (p.Asp1009Asn)
c.*2953G>A (n.*2953G>A)
c.2106+182594G>A (n.2106+182594G>A)
c.675G>A
n.16G>A
3g.184327301G>CCA355414504EIF2B5,EIF4G1c.3514G>C (p.Asp1172His)
c.3448G>C (p.Asp1150His)
c.2861G>C (n.2861G>C)
c.2919G>C (p.Gly973=)
c.3517G>C (p.Asp1173His)
c.3022G>C (p.Asp1008His)
c.3535G>C (p.Asp1179His)
c.3253G>C (p.Asp1085His)
c.3397G>C (p.Asp1133His)
c.3394G>C (p.Asp1132His)
c.3256G>C (p.Asp1086His)
c.2929G>C (p.Asp977His)
c.2926G>C (p.Asp976His)
c.3025G>C (p.Asp1009His)
c.*2953G>C (n.*2953G>C)
c.2106+182594G>C (n.2106+182594G>C)
c.675G>C
n.16G>C
3g.184327301G>TCA355414506EIF2B5,EIF4G1c.3514G>T (p.Asp1172Tyr)
c.3448G>T (p.Asp1150Tyr)
c.2861G>T (n.2861G>T)
c.2919G>T (p.Gly973=)
c.3517G>T (p.Asp1173Tyr)
c.3022G>T (p.Asp1008Tyr)
c.3535G>T (p.Asp1179Tyr)
c.3253G>T (p.Asp1085Tyr)
c.3397G>T (p.Asp1133Tyr)
c.3394G>T (p.Asp1132Tyr)
c.3256G>T (p.Asp1086Tyr)
c.2929G>T (p.Asp977Tyr)
c.2926G>T (p.Asp976Tyr)
c.3025G>T (p.Asp1009Tyr)
c.*2953G>T (n.*2953G>T)
c.2106+182594G>T (n.2106+182594G>T)
c.675G>T
n.16G>T
 gnomAD v4
3g.184327302A>CCA355414509EIF2B5,EIF4G1c.3515A>C (p.Asp1172Ala)
c.3449A>C (p.Asp1150Ala)
c.2862A>C (n.2862A>C)
c.2920A>C (p.Thr974Pro)
c.3518A>C (p.Asp1173Ala)
c.3023A>C (p.Asp1008Ala)
c.3536A>C (p.Asp1179Ala)
c.3254A>C (p.Asp1085Ala)
c.3398A>C (p.Asp1133Ala)
c.3395A>C (p.Asp1132Ala)
c.3257A>C (p.Asp1086Ala)
c.2930A>C (p.Asp977Ala)
c.2927A>C (p.Asp976Ala)
c.3026A>C (p.Asp1009Ala)
c.*2954A>C (n.*2954A>C)
c.2106+182595A>C (n.2106+182595A>C)
c.676A>C
n.17A>C
3g.184327302A>GCA355414510EIF2B5,EIF4G1c.3515A>G (p.Asp1172Gly)
c.3449A>G (p.Asp1150Gly)
c.2862A>G (n.2862A>G)
c.2920A>G (p.Thr974Ala)
c.3518A>G (p.Asp1173Gly)
c.3023A>G (p.Asp1008Gly)
c.3536A>G (p.Asp1179Gly)
c.3254A>G (p.Asp1085Gly)
c.3398A>G (p.Asp1133Gly)
c.3395A>G (p.Asp1132Gly)
c.3257A>G (p.Asp1086Gly)
c.2930A>G (p.Asp977Gly)
c.2927A>G (p.Asp976Gly)
c.3026A>G (p.Asp1009Gly)
c.*2954A>G (n.*2954A>G)
c.2106+182595A>G (n.2106+182595A>G)
c.676A>G
n.17A>G
3g.184327302A>TCA355414514EIF2B5,EIF4G1c.3515A>T (p.Asp1172Val)
c.3449A>T (p.Asp1150Val)
c.2862A>T (n.2862A>T)
c.2920A>T (p.Thr974Ser)
c.3518A>T (p.Asp1173Val)
c.3023A>T (p.Asp1008Val)
c.3536A>T (p.Asp1179Val)
c.3254A>T (p.Asp1085Val)
c.3398A>T (p.Asp1133Val)
c.3395A>T (p.Asp1132Val)
c.3257A>T (p.Asp1086Val)
c.2930A>T (p.Asp977Val)
c.2927A>T (p.Asp976Val)
c.3026A>T (p.Asp1009Val)
c.*2954A>T (n.*2954A>T)
c.2106+182595A>T (n.2106+182595A>T)
c.676A>T
n.17A>T
3g.184327303C>ACA355414520EIF2B5,EIF4G1c.3516C>A (p.Asp1172Glu)
c.3450C>A (p.Asp1150Glu)
c.2863C>A (n.2863C>A)
c.2921C>A (p.Thr974Asn)
c.3519C>A (p.Asp1173Glu)
c.3024C>A (p.Asp1008Glu)
c.3537C>A (p.Asp1179Glu)
c.3255C>A (p.Asp1085Glu)
c.3399C>A (p.Asp1133Glu)
c.3396C>A (p.Asp1132Glu)
c.3258C>A (p.Asp1086Glu)
c.2931C>A (p.Asp977Glu)
c.2928C>A (p.Asp976Glu)
c.3027C>A (p.Asp1009Glu)
c.*2955C>A (n.*2955C>A)
c.2106+182596C>A (n.2106+182596C>A)
c.677C>A
n.18C>A
3g.184327303C>GCA355414547EIF2B5,EIF4G1c.3516C>G (p.Asp1172Glu)
c.3450C>G (p.Asp1150Glu)
c.2863C>G (n.2863C>G)
c.2921C>G (p.Thr974Ser)
c.3519C>G (p.Asp1173Glu)
c.3024C>G (p.Asp1008Glu)
c.3537C>G (p.Asp1179Glu)
c.3255C>G (p.Asp1085Glu)
c.3399C>G (p.Asp1133Glu)
c.3396C>G (p.Asp1132Glu)
c.3258C>G (p.Asp1086Glu)
c.2931C>G (p.Asp977Glu)
c.2928C>G (p.Asp976Glu)
c.3027C>G (p.Asp1009Glu)
c.*2955C>G (n.*2955C>G)
c.2106+182596C>G (n.2106+182596C>G)
c.677C>G
n.18C>G
3g.184327303C>TCA355414526EIF2B5,EIF4G1c.3516C>T (p.Asp1172=)
c.3450C>T (p.Asp1150=)
c.2863C>T (n.2863C>T)
c.2921C>T (p.Thr974Ile)
c.3519C>T (p.Asp1173=)
c.3024C>T (p.Asp1008=)
c.3537C>T (p.Asp1179=)
c.3255C>T (p.Asp1085=)
c.3399C>T (p.Asp1133=)
c.3396C>T (p.Asp1132=)
c.3258C>T (p.Asp1086=)
c.2931C>T (p.Asp977=)
c.2928C>T (p.Asp976=)
c.3027C>T (p.Asp1009=)
c.*2955C>T (n.*2955C>T)
c.2106+182596C>T (n.2106+182596C>T)
c.677C>T
n.18C>T
3g.184327304C>ACA437330518EIF2B5,EIF4G1c.3517C>A (p.Arg1173=)
c.3451C>A (p.Arg1151=)
c.2864C>A (n.2864C>A)
c.2922C>A (p.Thr974=)
c.3520C>A (p.Arg1174=)
c.3025C>A (p.Arg1009=)
c.3538C>A (p.Arg1180=)
c.3256C>A (p.Arg1086=)
c.3400C>A (p.Arg1134=)
c.3397C>A (p.Arg1133=)
c.3259C>A (p.Arg1087=)
c.2932C>A (p.Arg978=)
c.2929C>A (p.Arg977=)
c.3028C>A (p.Arg1010=)
c.*2956C>A (n.*2956C>A)
c.2106+182597C>A (n.2106+182597C>A)
n.19C>A
3g.184327304C=CA1425958246EIF2B5,EIF4G1c.3517C= (p.Arg1173=)
c.3451C= (p.Arg1151=)
c.2864C= (n.2864C=)
c.2922C= (p.Thr974=)
c.3520C= (p.Arg1174=)
c.3025C= (p.Arg1009=)
c.3538C= (p.Arg1180=)
c.3256C= (p.Arg1086=)
c.3400C= (p.Arg1134=)
c.3397C= (p.Arg1133=)
c.3259C= (p.Arg1087=)
c.2932C= (p.Arg978=)
c.2929C= (p.Arg977=)
c.3028C= (p.Arg1010=)
c.*2956C= (n.*2956C=)
c.2106+182597C= (n.2106+182597C=)
n.19C=
3g.184327304C>GCA355414550EIF2B5,EIF4G1c.3517C>G (p.Arg1173Gly)
c.3451C>G (p.Arg1151Gly)
c.2864C>G (n.2864C>G)
c.2922C>G (p.Thr974=)
c.3520C>G (p.Arg1174Gly)
c.3025C>G (p.Arg1009Gly)
c.3538C>G (p.Arg1180Gly)
c.3256C>G (p.Arg1086Gly)
c.3400C>G (p.Arg1134Gly)
c.3397C>G (p.Arg1133Gly)
c.3259C>G (p.Arg1087Gly)
c.2932C>G (p.Arg978Gly)
c.2929C>G (p.Arg977Gly)
c.3028C>G (p.Arg1010Gly)
c.*2956C>G (n.*2956C>G)
c.2106+182597C>G (n.2106+182597C>G)
n.19C>G
 ClinVar
3g.184327304C>TCA2732832EIF2B5,EIF4G1c.3517C>T (p.Arg1173Trp)
c.3451C>T (p.Arg1151Trp)
c.2864C>T (n.2864C>T)
c.2922C>T (p.Thr974=)
c.3520C>T (p.Arg1174Trp)
c.3025C>T (p.Arg1009Trp)
c.3538C>T (p.Arg1180Trp)
c.3256C>T (p.Arg1086Trp)
c.3400C>T (p.Arg1134Trp)
c.3397C>T (p.Arg1133Trp)
c.3259C>T (p.Arg1087Trp)
c.2932C>T (p.Arg978Trp)
c.2929C>T (p.Arg977Trp)
c.3028C>T (p.Arg1010Trp)
c.*2956C>T (n.*2956C>T)
c.2106+182597C>T (n.2106+182597C>T)
n.19C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.184327305G>ACA355414559EIF2B5,EIF4G1c.3518G>A (p.Arg1173Gln)
c.3452G>A (p.Arg1151Gln)
c.2865G>A (n.2865G>A)
c.2923G>A (p.Gly975Ser)
c.3521G>A (p.Arg1174Gln)
c.3026G>A (p.Arg1009Gln)
c.3539G>A (p.Arg1180Gln)
c.3257G>A (p.Arg1086Gln)
c.3401G>A (p.Arg1134Gln)
c.3398G>A (p.Arg1133Gln)
c.3260G>A (p.Arg1087Gln)
c.2933G>A (p.Arg978Gln)
c.2930G>A (p.Arg977Gln)
c.3029G>A (p.Arg1010Gln)
c.*2957G>A (n.*2957G>A)
c.2106+182598G>A (n.2106+182598G>A)
n.20G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.184327305G>CCA355414568EIF2B5,EIF4G1c.3518G>C (p.Arg1173Pro)
c.3452G>C (p.Arg1151Pro)
c.2865G>C (n.2865G>C)
c.2923G>C (p.Gly975Arg)
c.3521G>C (p.Arg1174Pro)
c.3026G>C (p.Arg1009Pro)
c.3539G>C (p.Arg1180Pro)
c.3257G>C (p.Arg1086Pro)
c.3401G>C (p.Arg1134Pro)
c.3398G>C (p.Arg1133Pro)
c.3260G>C (p.Arg1087Pro)
c.2933G>C (p.Arg978Pro)
c.2930G>C (p.Arg977Pro)
c.3029G>C (p.Arg1010Pro)
c.*2957G>C (n.*2957G>C)
c.2106+182598G>C (n.2106+182598G>C)
n.20G>C
3g.184327305G=CA1425958249EIF2B5,EIF4G1c.3518G= (p.Arg1173=)
c.3452G= (p.Arg1151=)
c.2865G= (n.2865G=)
c.2923G= (p.Gly975=)
c.3521G= (p.Arg1174=)
c.3026G= (p.Arg1009=)
c.3539G= (p.Arg1180=)
c.3257G= (p.Arg1086=)
c.3401G= (p.Arg1134=)
c.3398G= (p.Arg1133=)
c.3260G= (p.Arg1087=)
c.2933G= (p.Arg978=)
c.2930G= (p.Arg977=)
c.3029G= (p.Arg1010=)
c.*2957G= (n.*2957G=)
c.2106+182598G= (n.2106+182598G=)
n.20G=
3g.184327305G>TCA355414570EIF2B5,EIF4G1c.3518G>T (p.Arg1173Leu)
c.3452G>T (p.Arg1151Leu)
c.2865G>T (n.2865G>T)
c.2923G>T (p.Gly975Cys)
c.3521G>T (p.Arg1174Leu)
c.3026G>T (p.Arg1009Leu)
c.3539G>T (p.Arg1180Leu)
c.3257G>T (p.Arg1086Leu)
c.3401G>T (p.Arg1134Leu)
c.3398G>T (p.Arg1133Leu)
c.3260G>T (p.Arg1087Leu)
c.2933G>T (p.Arg978Leu)
c.2930G>T (p.Arg977Leu)
c.3029G>T (p.Arg1010Leu)
c.*2957G>T (n.*2957G>T)
c.2106+182598G>T (n.2106+182598G>T)
n.20G>T
 dbSNP gnomAD v3 gnomAD v4
3g.184327306G>ACA355414577EIF2B5,EIF4G1c.3519G>A (p.Arg1173=)
c.3453G>A (p.Arg1151=)
c.2866G>A (n.2866G>A)
c.2924G>A (p.Gly975Asp)
c.3522G>A (p.Arg1174=)
c.3027G>A (p.Arg1009=)
c.3540G>A (p.Arg1180=)
c.3258G>A (p.Arg1086=)
c.3402G>A (p.Arg1134=)
c.3399G>A (p.Arg1133=)
c.3261G>A (p.Arg1087=)
c.2934G>A (p.Arg978=)
c.2931G>A (p.Arg977=)
c.3030G>A (p.Arg1010=)
c.*2958G>A (n.*2958G>A)
c.2106+182599G>A (n.2106+182599G>A)
n.21G>A
3g.184327306G>CCA355414580EIF2B5,EIF4G1c.3519G>C (p.Arg1173=)
c.3453G>C (p.Arg1151=)
c.2866G>C (n.2866G>C)
c.2924G>C (p.Gly975Ala)
c.3522G>C (p.Arg1174=)
c.3027G>C (p.Arg1009=)
c.3540G>C (p.Arg1180=)
c.3258G>C (p.Arg1086=)
c.3402G>C (p.Arg1134=)
c.3399G>C (p.Arg1133=)
c.3261G>C (p.Arg1087=)
c.2934G>C (p.Arg978=)
c.2931G>C (p.Arg977=)
c.3030G>C (p.Arg1010=)
c.*2958G>C (n.*2958G>C)
c.2106+182599G>C (n.2106+182599G>C)
n.21G>C
 dbSNP
3g.184327306G=CA1425958252EIF2B5,EIF4G1c.3519G= (p.Arg1173=)
c.3453G= (p.Arg1151=)
c.2866G= (n.2866G=)
c.2924G= (p.Gly975=)
c.3522G= (p.Arg1174=)
c.3027G= (p.Arg1009=)
c.3540G= (p.Arg1180=)
c.3258G= (p.Arg1086=)
c.3402G= (p.Arg1134=)
c.3399G= (p.Arg1133=)
c.3261G= (p.Arg1087=)
c.2934G= (p.Arg978=)
c.2931G= (p.Arg977=)
c.3030G= (p.Arg1010=)
c.*2958G= (n.*2958G=)
c.2106+182599G= (n.2106+182599G=)
n.21G=
3g.184327306G>TCA355414589EIF2B5,EIF4G1c.3519G>T (p.Arg1173=)
c.3453G>T (p.Arg1151=)
c.2866G>T (n.2866G>T)
c.2924G>T (p.Gly975Val)
c.3522G>T (p.Arg1174=)
c.3027G>T (p.Arg1009=)
c.3540G>T (p.Arg1180=)
c.3258G>T (p.Arg1086=)
c.3402G>T (p.Arg1134=)
c.3399G>T (p.Arg1133=)
c.3261G>T (p.Arg1087=)
c.2934G>T (p.Arg978=)
c.2931G>T (p.Arg977=)
c.3030G>T (p.Arg1010=)
c.*2958G>T (n.*2958G>T)
c.2106+182599G>T (n.2106+182599G>T)
n.21G>T
3g.184327307C>ACA355414595EIF2B5,EIF4G1c.3520C>A (p.Leu1174Ile)
c.3454C>A (p.Leu1152Ile)
c.2867C>A (n.2867C>A)
c.2925C>A (p.Gly975=)
c.3523C>A (p.Leu1175Ile)
c.3028C>A (p.Leu1010Ile)
c.3541C>A (p.Leu1181Ile)
c.3259C>A (p.Leu1087Ile)
c.3403C>A (p.Leu1135Ile)
c.3400C>A (p.Leu1134Ile)
c.3262C>A (p.Leu1088Ile)
c.2935C>A (p.Leu979Ile)
c.2932C>A (p.Leu978Ile)
c.3031C>A (p.Leu1011Ile)
c.*2959C>A (n.*2959C>A)
c.2106+182600C>A (n.2106+182600C>A)
n.22C>A
3g.184327307C=CA1425958254EIF2B5,EIF4G1c.3520C= (p.Leu1174=)
c.3454C= (p.Leu1152=)
c.2867C= (n.2867C=)
c.2925C= (p.Gly975=)
c.3523C= (p.Leu1175=)
c.3028C= (p.Leu1010=)
c.3541C= (p.Leu1181=)
c.3259C= (p.Leu1087=)
c.3403C= (p.Leu1135=)
c.3400C= (p.Leu1134=)
c.3262C= (p.Leu1088=)
c.2935C= (p.Leu979=)
c.2932C= (p.Leu978=)
c.3031C= (p.Leu1011=)
c.*2959C= (n.*2959C=)
c.2106+182600C= (n.2106+182600C=)
n.22C=
3g.184327307C>GCA355414604EIF2B5,EIF4G1c.3520C>G (p.Leu1174Val)
c.3454C>G (p.Leu1152Val)
c.2867C>G (n.2867C>G)
c.2925C>G (p.Gly975=)
c.3523C>G (p.Leu1175Val)
c.3028C>G (p.Leu1010Val)
c.3541C>G (p.Leu1181Val)
c.3259C>G (p.Leu1087Val)
c.3403C>G (p.Leu1135Val)
c.3400C>G (p.Leu1134Val)
c.3262C>G (p.Leu1088Val)
c.2935C>G (p.Leu979Val)
c.2932C>G (p.Leu978Val)
c.3031C>G (p.Leu1011Val)
c.*2959C>G (n.*2959C>G)
c.2106+182600C>G (n.2106+182600C>G)
n.22C>G
3g.184327307C>TCA355414610EIF2B5,EIF4G1c.3520C>T (p.Leu1174Phe)
c.3454C>T (p.Leu1152Phe)
c.2867C>T (n.2867C>T)
c.2925C>T (p.Gly975=)
c.3523C>T (p.Leu1175Phe)
c.3028C>T (p.Leu1010Phe)
c.3541C>T (p.Leu1181Phe)
c.3259C>T (p.Leu1087Phe)
c.3403C>T (p.Leu1135Phe)
c.3400C>T (p.Leu1134Phe)
c.3262C>T (p.Leu1088Phe)
c.2935C>T (p.Leu979Phe)
c.2932C>T (p.Leu978Phe)
c.3031C>T (p.Leu1011Phe)
c.*2959C>T (n.*2959C>T)
c.2106+182600C>T (n.2106+182600C>T)
n.22C>T
 dbSNP gnomAD v2 gnomAD v4
3g.184327308T>ACA355414624EIF2B5,EIF4G1c.3521T>A (p.Leu1174His)
c.3455T>A (p.Leu1152His)
c.2868T>A (n.2868T>A)
c.2926T>A (p.Leu976Met)
c.3524T>A (p.Leu1175His)
c.3029T>A (p.Leu1010His)
c.3542T>A (p.Leu1181His)
c.3260T>A (p.Leu1087His)
c.3404T>A (p.Leu1135His)
c.3401T>A (p.Leu1134His)
c.3263T>A (p.Leu1088His)
c.2936T>A (p.Leu979His)
c.2933T>A (p.Leu978His)
c.3032T>A (p.Leu1011His)
c.*2960T>A (n.*2960T>A)
c.2106+182601T>A (n.2106+182601T>A)
n.23T>A
3g.184327308T>CCA355414620EIF2B5,EIF4G1c.3521T>C (p.Leu1174Pro)
c.3455T>C (p.Leu1152Pro)
c.2868T>C (n.2868T>C)
c.2926T>C (p.Leu976=)
c.3524T>C (p.Leu1175Pro)
c.3029T>C (p.Leu1010Pro)
c.3542T>C (p.Leu1181Pro)
c.3260T>C (p.Leu1087Pro)
c.3404T>C (p.Leu1135Pro)
c.3401T>C (p.Leu1134Pro)
c.3263T>C (p.Leu1088Pro)
c.2936T>C (p.Leu979Pro)
c.2933T>C (p.Leu978Pro)
c.3032T>C (p.Leu1011Pro)
c.*2960T>C (n.*2960T>C)
c.2106+182601T>C (n.2106+182601T>C)
n.23T>C
 gnomAD v4
3g.184327308T>GCA355414615EIF2B5,EIF4G1c.3521T>G (p.Leu1174Arg)
c.3455T>G (p.Leu1152Arg)
c.2868T>G (n.2868T>G)
c.2926T>G (p.Leu976Val)
c.3524T>G (p.Leu1175Arg)
c.3029T>G (p.Leu1010Arg)
c.3542T>G (p.Leu1181Arg)
c.3260T>G (p.Leu1087Arg)
c.3404T>G (p.Leu1135Arg)
c.3401T>G (p.Leu1134Arg)
c.3263T>G (p.Leu1088Arg)
c.2936T>G (p.Leu979Arg)
c.2933T>G (p.Leu978Arg)
c.3032T>G (p.Leu1011Arg)
c.*2960T>G (n.*2960T>G)
c.2106+182601T>G (n.2106+182601T>G)
n.23T>G
3g.184327309T>ACA355414625EIF2B5,EIF4G1c.3522T>A (p.Leu1174=)
c.3456T>A (p.Leu1152=)
c.2869T>A (n.2869T>A)
c.2927T>A (p.Leu976Ter)
c.3525T>A (p.Leu1175=)
c.3030T>A (p.Leu1010=)
c.3543T>A (p.Leu1181=)
c.3261T>A (p.Leu1087=)
c.3405T>A (p.Leu1135=)
c.3402T>A (p.Leu1134=)
c.3264T>A (p.Leu1088=)
c.2937T>A (p.Leu979=)
c.2934T>A (p.Leu978=)
c.3033T>A (p.Leu1011=)
c.*2961T>A (n.*2961T>A)
c.2106+182602T>A (n.2106+182602T>A)
n.24T>A
3g.184327309T>CCA355414626EIF2B5,EIF4G1c.3522T>C (p.Leu1174=)
c.3456T>C (p.Leu1152=)
c.2869T>C (n.2869T>C)
c.2927T>C (p.Leu976Ser)
c.3525T>C (p.Leu1175=)
c.3030T>C (p.Leu1010=)
c.3543T>C (p.Leu1181=)
c.3261T>C (p.Leu1087=)
c.3405T>C (p.Leu1135=)
c.3402T>C (p.Leu1134=)
c.3264T>C (p.Leu1088=)
c.2937T>C (p.Leu979=)
c.2934T>C (p.Leu978=)
c.3033T>C (p.Leu1011=)
c.*2961T>C (n.*2961T>C)
c.2106+182602T>C (n.2106+182602T>C)
n.24T>C
3g.184327309T>GCA355414627EIF2B5,EIF4G1c.3522T>G (p.Leu1174=)
c.3456T>G (p.Leu1152=)
c.2869T>G (n.2869T>G)
c.2927T>G (p.Leu976Trp)
c.3525T>G (p.Leu1175=)
c.3030T>G (p.Leu1010=)
c.3543T>G (p.Leu1181=)
c.3261T>G (p.Leu1087=)
c.3405T>G (p.Leu1135=)
c.3402T>G (p.Leu1134=)
c.3264T>G (p.Leu1088=)
c.2937T>G (p.Leu979=)
c.2934T>G (p.Leu978=)
c.3033T>G (p.Leu1011=)
c.*2961T>G (n.*2961T>G)
c.2106+182602T>G (n.2106+182602T>G)
n.24T>G
3g.184327310G>ACA355414632EIF2B5,EIF4G1c.3523G>A (p.Asp1175Asn)
c.3457G>A (p.Asp1153Asn)
c.2870G>A (n.2870G>A)
c.2928G>A (p.Leu976=)
c.3526G>A (p.Asp1176Asn)
c.3031G>A (p.Asp1011Asn)
c.3544G>A (p.Asp1182Asn)
c.3262G>A (p.Asp1088Asn)
c.3406G>A (p.Asp1136Asn)
c.3403G>A (p.Asp1135Asn)
c.3265G>A (p.Asp1089Asn)
c.2938G>A (p.Asp980Asn)
c.2935G>A (p.Asp979Asn)
c.3034G>A (p.Asp1012Asn)
c.*2962G>A (n.*2962G>A)
c.2106+182603G>A (n.2106+182603G>A)
n.25G>A
3g.184327310G>CCA355414636EIF2B5,EIF4G1c.3523G>C (p.Asp1175His)
c.3457G>C (p.Asp1153His)
c.2870G>C (n.2870G>C)
c.2928G>C (p.Leu976Phe)
c.3526G>C (p.Asp1176His)
c.3031G>C (p.Asp1011His)
c.3544G>C (p.Asp1182His)
c.3262G>C (p.Asp1088His)
c.3406G>C (p.Asp1136His)
c.3403G>C (p.Asp1135His)
c.3265G>C (p.Asp1089His)
c.2938G>C (p.Asp980His)
c.2935G>C (p.Asp979His)
c.3034G>C (p.Asp1012His)
c.*2962G>C (n.*2962G>C)
c.2106+182603G>C (n.2106+182603G>C)
n.25G>C
3g.184327310G=CA1425958255EIF2B5,EIF4G1c.3523G= (p.Asp1175=)
c.3457G= (p.Asp1153=)
c.2870G= (n.2870G=)
c.2928G= (p.Leu976=)
c.3526G= (p.Asp1176=)
c.3031G= (p.Asp1011=)
c.3544G= (p.Asp1182=)
c.3262G= (p.Asp1088=)
c.3406G= (p.Asp1136=)
c.3403G= (p.Asp1135=)
c.3265G= (p.Asp1089=)
c.2938G= (p.Asp980=)
c.2935G= (p.Asp979=)
c.3034G= (p.Asp1012=)
c.*2962G= (n.*2962G=)
c.2106+182603G= (n.2106+182603G=)
n.25G=
3g.184327310G>TCA355414657EIF2B5,EIF4G1c.3523G>T (p.Asp1175Tyr)
c.3457G>T (p.Asp1153Tyr)
c.2870G>T (n.2870G>T)
c.2928G>T (p.Leu976Phe)
c.3526G>T (p.Asp1176Tyr)
c.3031G>T (p.Asp1011Tyr)
c.3544G>T (p.Asp1182Tyr)
c.3262G>T (p.Asp1088Tyr)
c.3406G>T (p.Asp1136Tyr)
c.3403G>T (p.Asp1135Tyr)
c.3265G>T (p.Asp1089Tyr)
c.2938G>T (p.Asp980Tyr)
c.2935G>T (p.Asp979Tyr)
c.3034G>T (p.Asp1012Tyr)
c.*2962G>T (n.*2962G>T)
c.2106+182603G>T (n.2106+182603G>T)
n.25G>T
 dbSNP gnomAD v3 gnomAD v4
3g.184327311A>CCA355414662EIF2B5,EIF4G1c.3524A>C (p.Asp1175Ala)
c.3458A>C (p.Asp1153Ala)
c.2871A>C (n.2871A>C)
c.2929A>C (p.Ile977Leu)
c.3527A>C (p.Asp1176Ala)
c.3032A>C (p.Asp1011Ala)
c.3545A>C (p.Asp1182Ala)
c.3263A>C (p.Asp1088Ala)
c.3407A>C (p.Asp1136Ala)
c.3404A>C (p.Asp1135Ala)
c.3266A>C (p.Asp1089Ala)
c.2939A>C (p.Asp980Ala)
c.2936A>C (p.Asp979Ala)
c.3035A>C (p.Asp1012Ala)
c.*2963A>C (n.*2963A>C)
c.2106+182604A>C (n.2106+182604A>C)
n.26A>C
3g.184327311A>GCA355414676EIF2B5,EIF4G1c.3524A>G (p.Asp1175Gly)
c.3458A>G (p.Asp1153Gly)
c.2871A>G (n.2871A>G)
c.2929A>G (p.Ile977Val)
c.3527A>G (p.Asp1176Gly)
c.3032A>G (p.Asp1011Gly)
c.3545A>G (p.Asp1182Gly)
c.3263A>G (p.Asp1088Gly)
c.3407A>G (p.Asp1136Gly)
c.3404A>G (p.Asp1135Gly)
c.3266A>G (p.Asp1089Gly)
c.2939A>G (p.Asp980Gly)
c.2936A>G (p.Asp979Gly)
c.3035A>G (p.Asp1012Gly)
c.*2963A>G (n.*2963A>G)
c.2106+182604A>G (n.2106+182604A>G)
n.26A>G
3g.184327311A>TCA355414680EIF2B5,EIF4G1c.3524A>T (p.Asp1175Val)
c.3458A>T (p.Asp1153Val)
c.2871A>T (n.2871A>T)
c.2929A>T (p.Ile977Phe)
c.3527A>T (p.Asp1176Val)
c.3032A>T (p.Asp1011Val)
c.3545A>T (p.Asp1182Val)
c.3263A>T (p.Asp1088Val)
c.3407A>T (p.Asp1136Val)
c.3404A>T (p.Asp1135Val)
c.3266A>T (p.Asp1089Val)
c.2939A>T (p.Asp980Val)
c.2936A>T (p.Asp979Val)
c.3035A>T (p.Asp1012Val)
c.*2963A>T (n.*2963A>T)
c.2106+182604A>T (n.2106+182604A>T)
n.26A>T
 gnomAD v4
3g.184327312T>ACA355414686EIF2B5,EIF4G1c.3525T>A (p.Asp1175Glu)
c.3459T>A (p.Asp1153Glu)
c.2872T>A (n.2872T>A)
c.2930T>A (p.Ile977Asn)
c.3528T>A (p.Asp1176Glu)
c.3033T>A (p.Asp1011Glu)
c.3546T>A (p.Asp1182Glu)
c.3264T>A (p.Asp1088Glu)
c.3408T>A (p.Asp1136Glu)
c.3405T>A (p.Asp1135Glu)
c.3267T>A (p.Asp1089Glu)
c.2940T>A (p.Asp980Glu)
c.2937T>A (p.Asp979Glu)
c.3036T>A (p.Asp1012Glu)
c.*2964T>A (n.*2964T>A)
c.2106+182605T>A (n.2106+182605T>A)
n.27T>A
3g.184327312T>CCA355414700EIF2B5,EIF4G1c.3525T>C (p.Asp1175=)
c.3459T>C (p.Asp1153=)
c.2872T>C (n.2872T>C)
c.2930T>C (p.Ile977Thr)
c.3528T>C (p.Asp1176=)
c.3033T>C (p.Asp1011=)
c.3546T>C (p.Asp1182=)
c.3264T>C (p.Asp1088=)
c.3408T>C (p.Asp1136=)
c.3405T>C (p.Asp1135=)
c.3267T>C (p.Asp1089=)
c.2940T>C (p.Asp980=)
c.2937T>C (p.Asp979=)
c.3036T>C (p.Asp1012=)
c.*2964T>C (n.*2964T>C)
c.2106+182605T>C (n.2106+182605T>C)
n.27T>C
3g.184327312T>GCA355414702EIF2B5,EIF4G1c.3525T>G (p.Asp1175Glu)
c.3459T>G (p.Asp1153Glu)
c.2872T>G (n.2872T>G)
c.2930T>G (p.Ile977Ser)
c.3528T>G (p.Asp1176Glu)
c.3033T>G (p.Asp1011Glu)
c.3546T>G (p.Asp1182Glu)
c.3264T>G (p.Asp1088Glu)
c.3408T>G (p.Asp1136Glu)
c.3405T>G (p.Asp1135Glu)
c.3267T>G (p.Asp1089Glu)
c.2940T>G (p.Asp980Glu)
c.2937T>G (p.Asp979Glu)
c.3036T>G (p.Asp1012Glu)
c.*2964T>G (n.*2964T>G)
c.2106+182605T>G (n.2106+182605T>G)
n.27T>G
3g.184327313C>ACA2732834EIF2B5,EIF4G1c.3526C>A (p.Arg1176Ser)
c.3460C>A (p.Arg1154Ser)
c.2873C>A (n.2873C>A)
c.2931C>A (p.Ile977=)
c.3529C>A (p.Arg1177Ser)
c.3034C>A (p.Arg1012Ser)
c.3547C>A (p.Arg1183Ser)
c.3265C>A (p.Arg1089Ser)
c.3409C>A (p.Arg1137Ser)
c.3406C>A (p.Arg1136Ser)
c.3268C>A (p.Arg1090Ser)
c.2941C>A (p.Arg981Ser)
c.2938C>A (p.Arg980Ser)
c.3037C>A (p.Arg1013Ser)
c.*2965C>A (n.*2965C>A)
c.2106+182606C>A (n.2106+182606C>A)
n.28C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.184327313C=CA1425958263EIF2B5,EIF4G1c.3526C= (p.Arg1176=)
c.3460C= (p.Arg1154=)
c.2873C= (n.2873C=)
c.2931C= (p.Ile977=)
c.3529C= (p.Arg1177=)
c.3034C= (p.Arg1012=)
c.3547C= (p.Arg1183=)
c.3265C= (p.Arg1089=)
c.3409C= (p.Arg1137=)
c.3406C= (p.Arg1136=)
c.3268C= (p.Arg1090=)
c.2941C= (p.Arg981=)
c.2938C= (p.Arg980=)
c.3037C= (p.Arg1013=)
c.*2965C= (n.*2965C=)
c.2106+182606C= (n.2106+182606C=)
n.28C=
3g.184327313C>GCA2732835EIF2B5,EIF4G1c.3526C>G (p.Arg1176Gly)
c.3460C>G (p.Arg1154Gly)
c.2873C>G (n.2873C>G)
c.2931C>G (p.Ile977Met)
c.3529C>G (p.Arg1177Gly)
c.3034C>G (p.Arg1012Gly)
c.3547C>G (p.Arg1183Gly)
c.3265C>G (p.Arg1089Gly)
c.3409C>G (p.Arg1137Gly)
c.3406C>G (p.Arg1136Gly)
c.3268C>G (p.Arg1090Gly)
c.2941C>G (p.Arg981Gly)
c.2938C>G (p.Arg980Gly)
c.3037C>G (p.Arg1013Gly)
c.*2965C>G (n.*2965C>G)
c.2106+182606C>G (n.2106+182606C>G)
n.28C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.184327313C>TCA2732833EIF2B5,EIF4G1c.3526C>T (p.Arg1176Cys)
c.3460C>T (p.Arg1154Cys)
c.2873C>T (n.2873C>T)
c.2931C>T (p.Ile977=)
c.3529C>T (p.Arg1177Cys)
c.3034C>T (p.Arg1012Cys)
c.3547C>T (p.Arg1183Cys)
c.3265C>T (p.Arg1089Cys)
c.3409C>T (p.Arg1137Cys)
c.3406C>T (p.Arg1136Cys)
c.3268C>T (p.Arg1090Cys)
c.2941C>T (p.Arg981Cys)
c.2938C>T (p.Arg980Cys)
c.3037C>T (p.Arg1013Cys)
c.*2965C>T (n.*2965C>T)
c.2106+182606C>T (n.2106+182606C>T)
n.28C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.184327314G>ACA2732836EIF2B5,EIF4G1c.3527G>A (p.Arg1176His)
c.3461G>A (p.Arg1154His)
c.2874G>A (n.2874G>A)
c.2932G>A (p.Val978Met)
c.3530G>A (p.Arg1177His)
c.3035G>A (p.Arg1012His)
c.3548G>A (p.Arg1183His)
c.3266G>A (p.Arg1089His)
c.3410G>A (p.Arg1137His)
c.3407G>A (p.Arg1136His)
c.3269G>A (p.Arg1090His)
c.2942G>A (p.Arg981His)
c.2939G>A (p.Arg980His)
c.3038G>A (p.Arg1013His)
c.*2966G>A (n.*2966G>A)
c.2106+182607G>A (n.2106+182607G>A)
n.29G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.184327314G>CCA355414715EIF2B5,EIF4G1c.3527G>C (p.Arg1176Pro)
c.3461G>C (p.Arg1154Pro)
c.2874G>C (n.2874G>C)
c.2932G>C (p.Val978Leu)
c.3530G>C (p.Arg1177Pro)
c.3035G>C (p.Arg1012Pro)
c.3548G>C (p.Arg1183Pro)
c.3266G>C (p.Arg1089Pro)
c.3410G>C (p.Arg1137Pro)
c.3407G>C (p.Arg1136Pro)
c.3269G>C (p.Arg1090Pro)
c.2942G>C (p.Arg981Pro)
c.2939G>C (p.Arg980Pro)
c.3038G>C (p.Arg1013Pro)
c.*2966G>C (n.*2966G>C)
c.2106+182607G>C (n.2106+182607G>C)
n.29G>C
3g.184327314G=CA1425958265EIF2B5,EIF4G1c.3527G= (p.Arg1176=)
c.3461G= (p.Arg1154=)
c.2874G= (n.2874G=)
c.2932G= (p.Val978=)
c.3530G= (p.Arg1177=)
c.3035G= (p.Arg1012=)
c.3548G= (p.Arg1183=)
c.3266G= (p.Arg1089=)
c.3410G= (p.Arg1137=)
c.3407G= (p.Arg1136=)
c.3269G= (p.Arg1090=)
c.2942G= (p.Arg981=)
c.2939G= (p.Arg980=)
c.3038G= (p.Arg1013=)
c.*2966G= (n.*2966G=)
c.2106+182607G= (n.2106+182607G=)
n.29G=
3g.184327314G>TCA2732837EIF2B5,EIF4G1c.3527G>T (p.Arg1176Leu)
c.3461G>T (p.Arg1154Leu)
c.2874G>T (n.2874G>T)
c.2932G>T (p.Val978Leu)
c.3530G>T (p.Arg1177Leu)
c.3035G>T (p.Arg1012Leu)
c.3548G>T (p.Arg1183Leu)
c.3266G>T (p.Arg1089Leu)
c.3410G>T (p.Arg1137Leu)
c.3407G>T (p.Arg1136Leu)
c.3269G>T (p.Arg1090Leu)
c.2942G>T (p.Arg981Leu)
c.2939G>T (p.Arg980Leu)
c.3038G>T (p.Arg1013Leu)
c.*2966G>T (n.*2966G>T)
c.2106+182607G>T (n.2106+182607G>T)
n.29G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.184327315T>ACA2732838EIF2B5,EIF4G1c.3528T>A (p.Arg1176=)
c.3462T>A (p.Arg1154=)
c.2875T>A (n.2875T>A)
c.2933T>A (p.Val978Glu)
c.3531T>A (p.Arg1177=)
c.3036T>A (p.Arg1012=)
c.3549T>A (p.Arg1183=)
c.3267T>A (p.Arg1089=)
c.3411T>A (p.Arg1137=)
c.3408T>A (p.Arg1136=)
c.3270T>A (p.Arg1090=)
c.2943T>A (p.Arg981=)
c.2940T>A (p.Arg980=)
c.3039T>A (p.Arg1013=)
c.*2967T>A (n.*2967T>A)
c.2106+182608T>A (n.2106+182608T>A)
n.30T>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.184327315T>CCA355414722EIF2B5,EIF4G1c.3528T>C (p.Arg1176=)
c.3462T>C (p.Arg1154=)
c.2875T>C (n.2875T>C)
c.2933T>C (p.Val978Ala)
c.3531T>C (p.Arg1177=)
c.3036T>C (p.Arg1012=)
c.3549T>C (p.Arg1183=)
c.3267T>C (p.Arg1089=)
c.3411T>C (p.Arg1137=)
c.3408T>C (p.Arg1136=)
c.3270T>C (p.Arg1090=)
c.2943T>C (p.Arg981=)
c.2940T>C (p.Arg980=)
c.3039T>C (p.Arg1013=)
c.*2967T>C (n.*2967T>C)
c.2106+182608T>C (n.2106+182608T>C)
n.30T>C
3g.184327315T>GCA355414728EIF2B5,EIF4G1c.3528T>G (p.Arg1176=)
c.3462T>G (p.Arg1154=)
c.2875T>G (n.2875T>G)
c.2933T>G (p.Val978Gly)
c.3531T>G (p.Arg1177=)
c.3036T>G (p.Arg1012=)
c.3549T>G (p.Arg1183=)
c.3267T>G (p.Arg1089=)
c.3411T>G (p.Arg1137=)
c.3408T>G (p.Arg1136=)
c.3270T>G (p.Arg1090=)
c.2943T>G (p.Arg981=)
c.2940T>G (p.Arg980=)
c.3039T>G (p.Arg1013=)
c.*2967T>G (n.*2967T>G)
c.2106+182608T>G (n.2106+182608T>G)
n.30T>G
3g.184327315T=CA1425958269EIF2B5,EIF4G1c.3528T= (p.Arg1176=)
c.3462T= (p.Arg1154=)
c.2875T= (n.2875T=)
c.2933T= (p.Val978=)
c.3531T= (p.Arg1177=)
c.3036T= (p.Arg1012=)
c.3549T= (p.Arg1183=)
c.3267T= (p.Arg1089=)
c.3411T= (p.Arg1137=)
c.3408T= (p.Arg1136=)
c.3270T= (p.Arg1090=)
c.2943T= (p.Arg981=)
c.2940T= (p.Arg980=)
c.3039T= (p.Arg1013=)
c.*2967T= (n.*2967T=)
c.2106+182608T= (n.2106+182608T=)
n.30T=
3g.184327316G>ACA355414731EIF2B5,EIF4G1c.3529G>A (p.Ala1177Thr)
c.3463G>A (p.Ala1155Thr)
c.2876G>A (n.2876G>A)
c.2934G>A (p.Val978=)
c.3532G>A (p.Ala1178Thr)
c.3037G>A (p.Ala1013Thr)
c.3550G>A (p.Ala1184Thr)
c.3268G>A (p.Ala1090Thr)
c.3412G>A (p.Ala1138Thr)
c.3409G>A (p.Ala1137Thr)
c.3271G>A (p.Ala1091Thr)
c.2944G>A (p.Ala982Thr)
c.2941G>A (p.Ala981Thr)
c.3040G>A (p.Ala1014Thr)
c.*2968G>A (n.*2968G>A)
c.2106+182609G>A (n.2106+182609G>A)
n.31G>A
 gnomAD v4
3g.184327316G>CCA355414736EIF2B5,EIF4G1c.3529G>C (p.Ala1177Pro)
c.3463G>C (p.Ala1155Pro)
c.2876G>C (n.2876G>C)
c.2934G>C (p.Val978=)
c.3532G>C (p.Ala1178Pro)
c.3037G>C (p.Ala1013Pro)
c.3550G>C (p.Ala1184Pro)
c.3268G>C (p.Ala1090Pro)
c.3412G>C (p.Ala1138Pro)
c.3409G>C (p.Ala1137Pro)
c.3271G>C (p.Ala1091Pro)
c.2944G>C (p.Ala982Pro)
c.2941G>C (p.Ala981Pro)
c.3040G>C (p.Ala1014Pro)
c.*2968G>C (n.*2968G>C)
c.2106+182609G>C (n.2106+182609G>C)
n.31G>C
3g.184327316G>TCA355414740EIF2B5,EIF4G1c.3529G>T (p.Ala1177Ser)
c.3463G>T (p.Ala1155Ser)
c.2876G>T (n.2876G>T)
c.2934G>T (p.Val978=)
c.3532G>T (p.Ala1178Ser)
c.3037G>T (p.Ala1013Ser)
c.3550G>T (p.Ala1184Ser)
c.3268G>T (p.Ala1090Ser)
c.3412G>T (p.Ala1138Ser)
c.3409G>T (p.Ala1137Ser)
c.3271G>T (p.Ala1091Ser)
c.2944G>T (p.Ala982Ser)
c.2941G>T (p.Ala981Ser)
c.3040G>T (p.Ala1014Ser)
c.*2968G>T (n.*2968G>T)
c.2106+182609G>T (n.2106+182609G>T)
n.31G>T
3g.184327317C>ACA355414746EIF2B5,EIF4G1c.3530C>A (p.Ala1177Glu)
c.3464C>A (p.Ala1155Glu)
c.2877C>A (n.2877C>A)
c.2935C>A (p.Arg979Ser)
c.3533C>A (p.Ala1178Glu)
c.3038C>A (p.Ala1013Glu)
c.3551C>A (p.Ala1184Glu)
c.3269C>A (p.Ala1090Glu)
c.3413C>A (p.Ala1138Glu)
c.3410C>A (p.Ala1137Glu)
c.3272C>A (p.Ala1091Glu)
c.2945C>A (p.Ala982Glu)
c.2942C>A (p.Ala981Glu)
c.3041C>A (p.Ala1014Glu)
c.*2969C>A (n.*2969C>A)
c.2106+182610C>A (n.2106+182610C>A)
n.32C>A
3g.184327317C=CA1425958272EIF2B5,EIF4G1c.3530C= (p.Ala1177=)
c.3464C= (p.Ala1155=)
c.2877C= (n.2877C=)
c.2935C= (p.Arg979=)
c.3533C= (p.Ala1178=)
c.3038C= (p.Ala1013=)
c.3551C= (p.Ala1184=)
c.3269C= (p.Ala1090=)
c.3413C= (p.Ala1138=)
c.3410C= (p.Ala1137=)
c.3272C= (p.Ala1091=)
c.2945C= (p.Ala982=)
c.2942C= (p.Ala981=)
c.3041C= (p.Ala1014=)
c.*2969C= (n.*2969C=)
c.2106+182610C= (n.2106+182610C=)
n.32C=
3g.184327317C>GCA355414750EIF2B5,EIF4G1c.3530C>G (p.Ala1177Gly)
c.3464C>G (p.Ala1155Gly)
c.2877C>G (n.2877C>G)
c.2935C>G (p.Arg979Gly)
c.3533C>G (p.Ala1178Gly)
c.3038C>G (p.Ala1013Gly)
c.3551C>G (p.Ala1184Gly)
c.3269C>G (p.Ala1090Gly)
c.3413C>G (p.Ala1138Gly)
c.3410C>G (p.Ala1137Gly)
c.3272C>G (p.Ala1091Gly)
c.2945C>G (p.Ala982Gly)
c.2942C>G (p.Ala981Gly)
c.3041C>G (p.Ala1014Gly)
c.*2969C>G (n.*2969C>G)
c.2106+182610C>G (n.2106+182610C>G)
n.32C>G
3g.184327317C>TCA2732839EIF2B5,EIF4G1c.3530C>T (p.Ala1177Val)
c.3464C>T (p.Ala1155Val)
c.2877C>T (n.2877C>T)
c.2935C>T (p.Arg979Cys)
c.3533C>T (p.Ala1178Val)
c.3038C>T (p.Ala1013Val)
c.3551C>T (p.Ala1184Val)
c.3269C>T (p.Ala1090Val)
c.3413C>T (p.Ala1138Val)
c.3410C>T (p.Ala1137Val)
c.3272C>T (p.Ala1091Val)
c.2945C>T (p.Ala982Val)
c.2942C>T (p.Ala981Val)
c.3041C>T (p.Ala1014Val)
c.*2969C>T (n.*2969C>T)
c.2106+182610C>T (n.2106+182610C>T)
n.32C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
3g.184327318G>ACA2732840EIF2B5,EIF4G1c.3531G>A (p.Ala1177=)
c.3465G>A (p.Ala1155=)
c.2878G>A (n.2878G>A)
c.2936G>A (p.Arg979His)
c.3534G>A (p.Ala1178=)
c.3039G>A (p.Ala1013=)
c.3552G>A (p.Ala1184=)
c.3270G>A (p.Ala1090=)
c.3414G>A (p.Ala1138=)
c.3411G>A (p.Ala1137=)
c.3273G>A (p.Ala1091=)
c.2946G>A (p.Ala982=)
c.2943G>A (p.Ala981=)
c.3042G>A (p.Ala1014=)
c.*2970G>A (n.*2970G>A)
c.2106+182611G>A (n.2106+182611G>A)
n.33G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
3g.184327318G>CCA355414764EIF2B5,EIF4G1c.3531G>C (p.Ala1177=)
c.3465G>C (p.Ala1155=)
c.2878G>C (n.2878G>C)
c.2936G>C (p.Arg979Pro)
c.3534G>C (p.Ala1178=)
c.3039G>C (p.Ala1013=)
c.3552G>C (p.Ala1184=)
c.3270G>C (p.Ala1090=)
c.3414G>C (p.Ala1138=)
c.3411G>C (p.Ala1137=)
c.3273G>C (p.Ala1091=)
c.2946G>C (p.Ala982=)
c.2943G>C (p.Ala981=)
c.3042G>C (p.Ala1014=)
c.*2970G>C (n.*2970G>C)
c.2106+182611G>C (n.2106+182611G>C)
n.33G>C
3g.184327318G=CA1425958274EIF2B5,EIF4G1c.3531G= (p.Ala1177=)
c.3465G= (p.Ala1155=)
c.2878G= (n.2878G=)
c.2936G= (p.Arg979=)
c.3534G= (p.Ala1178=)
c.3039G= (p.Ala1013=)
c.3552G= (p.Ala1184=)
c.3270G= (p.Ala1090=)
c.3414G= (p.Ala1138=)
c.3411G= (p.Ala1137=)
c.3273G= (p.Ala1091=)
c.2946G= (p.Ala982=)
c.2943G= (p.Ala981=)
c.3042G= (p.Ala1014=)
c.*2970G= (n.*2970G=)
c.2106+182611G= (n.2106+182611G=)
n.33G=
3g.184327318G>TCA355414765EIF2B5,EIF4G1c.3531G>T (p.Ala1177=)
c.3465G>T (p.Ala1155=)
c.2878G>T (n.2878G>T)
c.2936G>T (p.Arg979Leu)
c.3534G>T (p.Ala1178=)
c.3039G>T (p.Ala1013=)
c.3552G>T (p.Ala1184=)
c.3270G>T (p.Ala1090=)
c.3414G>T (p.Ala1138=)
c.3411G>T (p.Ala1137=)
c.3273G>T (p.Ala1091=)
c.2946G>T (p.Ala982=)
c.2943G>T (p.Ala981=)
c.3042G>T (p.Ala1014=)
c.*2970G>T (n.*2970G>T)
c.2106+182611G>T (n.2106+182611G>T)
n.33G>T
3g.184327319C>ACA437330519EIF2B5,EIF4G1c.3532C>A (p.Arg1178=)
c.3466C>A (p.Arg1156=)
c.2879C>A (n.2879C>A)
c.2937C>A (p.Arg979=)
c.3535C>A (p.Arg1179=)
c.3040C>A (p.Arg1014=)
c.3553C>A (p.Arg1185=)
c.3271C>A (p.Arg1091=)
c.3415C>A (p.Arg1139=)
c.3412C>A (p.Arg1138=)
c.3274C>A (p.Arg1092=)
c.2947C>A (p.Arg983=)
c.2944C>A (p.Arg982=)
c.3043C>A (p.Arg1015=)
c.*2971C>A (n.*2971C>A)
c.2106+182612C>A (n.2106+182612C>A)
n.34C>A
3g.184327319C=CA1425958280EIF2B5,EIF4G1c.3532C= (p.Arg1178=)
c.3466C= (p.Arg1156=)
c.2879C= (n.2879C=)
c.2937C= (p.Arg979=)
c.3535C= (p.Arg1179=)
c.3040C= (p.Arg1014=)
c.3553C= (p.Arg1185=)
c.3271C= (p.Arg1091=)
c.3415C= (p.Arg1139=)
c.3412C= (p.Arg1138=)
c.3274C= (p.Arg1092=)
c.2947C= (p.Arg983=)
c.2944C= (p.Arg982=)
c.3043C= (p.Arg1015=)
c.*2971C= (n.*2971C=)
c.2106+182612C= (n.2106+182612C=)
n.34C=
3g.184327319C>GCA355414773EIF2B5,EIF4G1c.3532C>G (p.Arg1178Gly)
c.3466C>G (p.Arg1156Gly)
c.2879C>G (n.2879C>G)
c.2937C>G (p.Arg979=)
c.3535C>G (p.Arg1179Gly)
c.3040C>G (p.Arg1014Gly)
c.3553C>G (p.Arg1185Gly)
c.3271C>G (p.Arg1091Gly)
c.3415C>G (p.Arg1139Gly)
c.3412C>G (p.Arg1138Gly)
c.3274C>G (p.Arg1092Gly)
c.2947C>G (p.Arg983Gly)
c.2944C>G (p.Arg982Gly)
c.3043C>G (p.Arg1015Gly)
c.*2971C>G (n.*2971C>G)
c.2106+182612C>G (n.2106+182612C>G)
n.34C>G
3g.184327319C>TCA2732841EIF2B5,EIF4G1c.3532C>T (p.Arg1178Trp)
c.3466C>T (p.Arg1156Trp)
c.2879C>T (n.2879C>T)
c.2937C>T (p.Arg979=)
c.3535C>T (p.Arg1179Trp)
c.3040C>T (p.Arg1014Trp)
c.3553C>T (p.Arg1185Trp)
c.3271C>T (p.Arg1091Trp)
c.3415C>T (p.Arg1139Trp)
c.3412C>T (p.Arg1138Trp)
c.3274C>T (p.Arg1092Trp)
c.2947C>T (p.Arg983Trp)
c.2944C>T (p.Arg982Trp)
c.3043C>T (p.Arg1015Trp)
c.*2971C>T (n.*2971C>T)
c.2106+182612C>T (n.2106+182612C>T)
n.34C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.184327320G>ACA355414776EIF2B5,EIF4G1c.3533G>A (p.Arg1178Gln)
c.3467G>A (p.Arg1156Gln)
c.2880G>A (n.2880G>A)
c.2938-2G>A (n.2938-2G>A)
c.3536G>A (p.Arg1179Gln)
c.3041G>A (p.Arg1014Gln)
c.3554G>A (p.Arg1185Gln)
c.3272G>A (p.Arg1091Gln)
c.3416G>A (p.Arg1139Gln)
c.3413G>A (p.Arg1138Gln)
c.3275G>A (p.Arg1092Gln)
c.2948G>A (p.Arg983Gln)
c.2945G>A (p.Arg982Gln)
c.3044G>A (p.Arg1015Gln)
c.*2972G>A (n.*2972G>A)
c.2106+182613G>A (n.2106+182613G>A)
n.35G>A
 dbSNP gnomAD v3 gnomAD v4
3g.184327320G>CCA355414779EIF2B5,EIF4G1c.3533G>C (p.Arg1178Pro)
c.3467G>C (p.Arg1156Pro)
c.2880G>C (n.2880G>C)
c.2938-2G>C (n.2938-2G>C)
c.3536G>C (p.Arg1179Pro)
c.3041G>C (p.Arg1014Pro)
c.3554G>C (p.Arg1185Pro)
c.3272G>C (p.Arg1091Pro)
c.3416G>C (p.Arg1139Pro)
c.3413G>C (p.Arg1138Pro)
c.3275G>C (p.Arg1092Pro)
c.2948G>C (p.Arg983Pro)
c.2945G>C (p.Arg982Pro)
c.3044G>C (p.Arg1015Pro)
c.*2972G>C (n.*2972G>C)
c.2106+182613G>C (n.2106+182613G>C)
n.35G>C
3g.184327320G=CA1425958284EIF2B5,EIF4G1c.3533G= (p.Arg1178=)
c.3467G= (p.Arg1156=)
c.2880G= (n.2880G=)
c.2938-2G= (n.2938-2G=)
c.3536G= (p.Arg1179=)
c.3041G= (p.Arg1014=)
c.3554G= (p.Arg1185=)
c.3272G= (p.Arg1091=)
c.3416G= (p.Arg1139=)
c.3413G= (p.Arg1138=)
c.3275G= (p.Arg1092=)
c.2948G= (p.Arg983=)
c.2945G= (p.Arg982=)
c.3044G= (p.Arg1015=)
c.*2972G= (n.*2972G=)
c.2106+182613G= (n.2106+182613G=)
n.35G=
3g.184327320G>TCA355414780EIF2B5,EIF4G1c.3533G>T (p.Arg1178Leu)
c.3467G>T (p.Arg1156Leu)
c.2880G>T (n.2880G>T)
c.2938-2G>T (n.2938-2G>T)
c.3536G>T (p.Arg1179Leu)
c.3041G>T (p.Arg1014Leu)
c.3554G>T (p.Arg1185Leu)
c.3272G>T (p.Arg1091Leu)
c.3416G>T (p.Arg1139Leu)
c.3413G>T (p.Arg1138Leu)
c.3275G>T (p.Arg1092Leu)
c.2948G>T (p.Arg983Leu)
c.2945G>T (p.Arg982Leu)
c.3044G>T (p.Arg1015Leu)
c.*2972G>T (n.*2972G>T)
c.2106+182613G>T (n.2106+182613G>T)
n.35G>T
 gnomAD v4
3g.184327321G>ACA355414781EIF2B5,EIF4G1c.3534G>A (p.Arg1178=)
c.3468G>A (p.Arg1156=)
c.2881G>A (n.2881G>A)
c.2938-1G>A (n.2938-1G>A)
c.3537G>A (p.Arg1179=)
c.3042G>A (p.Arg1014=)
c.3555G>A (p.Arg1185=)
c.3273G>A (p.Arg1091=)
c.3417G>A (p.Arg1139=)
c.3414G>A (p.Arg1138=)
c.3276G>A (p.Arg1092=)
c.2949G>A (p.Arg983=)
c.2946G>A (p.Arg982=)
c.3045G>A (p.Arg1015=)
c.*2973G>A (n.*2973G>A)
c.2106+182614G>A (n.2106+182614G>A)
n.36G>A
3g.184327321G>CCA355414784EIF2B5,EIF4G1c.3534G>C (p.Arg1178=)
c.3468G>C (p.Arg1156=)
c.2881G>C (n.2881G>C)
c.2938-1G>C (n.2938-1G>C)
c.3537G>C (p.Arg1179=)
c.3042G>C (p.Arg1014=)
c.3555G>C (p.Arg1185=)
c.3273G>C (p.Arg1091=)
c.3417G>C (p.Arg1139=)
c.3414G>C (p.Arg1138=)
c.3276G>C (p.Arg1092=)
c.2949G>C (p.Arg983=)
c.2946G>C (p.Arg982=)
c.3045G>C (p.Arg1015=)
c.*2973G>C (n.*2973G>C)
c.2106+182614G>C (n.2106+182614G>C)
n.36G>C
3g.184327321G>TCA355414787EIF2B5,EIF4G1c.3534G>T (p.Arg1178=)
c.3468G>T (p.Arg1156=)
c.2881G>T (n.2881G>T)
c.2938-1G>T (n.2938-1G>T)
c.3537G>T (p.Arg1179=)
c.3042G>T (p.Arg1014=)
c.3555G>T (p.Arg1185=)
c.3273G>T (p.Arg1091=)
c.3417G>T (p.Arg1139=)
c.3414G>T (p.Arg1138=)
c.3276G>T (p.Arg1092=)
c.2949G>T (p.Arg983=)
c.2946G>T (p.Arg982=)
c.3045G>T (p.Arg1015=)
c.*2973G>T (n.*2973G>T)
c.2106+182614G>T (n.2106+182614G>T)
n.36G>T
3g.184327322A>CCA355414791EIF2B5,EIF4G1c.3535A>C (p.Thr1179Pro)
c.3469A>C (p.Thr1157Pro)
c.2882A>C (n.2882A>C)
c.2938A>C (p.Thr980Pro)
c.3538A>C (p.Thr1180Pro)
c.3043A>C (p.Thr1015Pro)
c.3556A>C (p.Thr1186Pro)
c.3274A>C (p.Thr1092Pro)
c.3418A>C (p.Thr1140Pro)
c.3415A>C (p.Thr1139Pro)
c.3277A>C (p.Thr1093Pro)
c.2950A>C (p.Thr984Pro)
c.2947A>C (p.Thr983Pro)
c.3046A>C (p.Thr1016Pro)
c.*2974A>C (n.*2974A>C)
c.2106+182615A>C (n.2106+182615A>C)
n.37A>C
3g.184327322A>GCA355414794EIF2B5,EIF4G1c.3535A>G (p.Thr1179Ala)
c.3469A>G (p.Thr1157Ala)
c.2882A>G (n.2882A>G)
c.2938A>G (p.Thr980Ala)
c.3538A>G (p.Thr1180Ala)
c.3043A>G (p.Thr1015Ala)
c.3556A>G (p.Thr1186Ala)
c.3274A>G (p.Thr1092Ala)
c.3418A>G (p.Thr1140Ala)
c.3415A>G (p.Thr1139Ala)
c.3277A>G (p.Thr1093Ala)
c.2950A>G (p.Thr984Ala)
c.2947A>G (p.Thr983Ala)
c.3046A>G (p.Thr1016Ala)
c.*2974A>G (n.*2974A>G)
c.2106+182615A>G (n.2106+182615A>G)
n.37A>G
3g.184327322A>TCA355414798EIF2B5,EIF4G1c.3535A>T (p.Thr1179Ser)
c.3469A>T (p.Thr1157Ser)
c.2882A>T (n.2882A>T)
c.2938A>T (p.Thr980Ser)
c.3538A>T (p.Thr1180Ser)
c.3043A>T (p.Thr1015Ser)
c.3556A>T (p.Thr1186Ser)
c.3274A>T (p.Thr1092Ser)
c.3418A>T (p.Thr1140Ser)
c.3415A>T (p.Thr1139Ser)
c.3277A>T (p.Thr1093Ser)
c.2950A>T (p.Thr984Ser)
c.2947A>T (p.Thr983Ser)
c.3046A>T (p.Thr1016Ser)
c.*2974A>T (n.*2974A>T)
c.2106+182615A>T (n.2106+182615A>T)
n.37A>T
3g.184327323C>ACA355414809EIF2B5,EIF4G1c.3536C>A (p.Thr1179Lys)
c.3470C>A (p.Thr1157Lys)
c.2883C>A (n.2883C>A)
c.2939C>A (p.Thr980Lys)
c.3539C>A (p.Thr1180Lys)
c.3044C>A (p.Thr1015Lys)
c.3557C>A (p.Thr1186Lys)
c.3275C>A (p.Thr1092Lys)
c.3419C>A (p.Thr1140Lys)
c.3416C>A (p.Thr1139Lys)
c.3278C>A (p.Thr1093Lys)
c.2951C>A (p.Thr984Lys)
c.2948C>A (p.Thr983Lys)
c.3047C>A (p.Thr1016Lys)
c.*2975C>A (n.*2975C>A)
c.2106+182616C>A (n.2106+182616C>A)
n.38C>A
3g.184327323C>GCA355414813EIF2B5,EIF4G1c.3536C>G (p.Thr1179Arg)
c.3470C>G (p.Thr1157Arg)
c.2883C>G (n.2883C>G)
c.2939C>G (p.Thr980Arg)
c.3539C>G (p.Thr1180Arg)
c.3044C>G (p.Thr1015Arg)
c.3557C>G (p.Thr1186Arg)
c.3275C>G (p.Thr1092Arg)
c.3419C>G (p.Thr1140Arg)
c.3416C>G (p.Thr1139Arg)
c.3278C>G (p.Thr1093Arg)
c.2951C>G (p.Thr984Arg)
c.2948C>G (p.Thr983Arg)
c.3047C>G (p.Thr1016Arg)
c.*2975C>G (n.*2975C>G)
c.2106+182616C>G (n.2106+182616C>G)
n.38C>G
3g.184327323C>TCA355414816EIF2B5,EIF4G1c.3536C>T (p.Thr1179Ile)
c.3470C>T (p.Thr1157Ile)
c.2883C>T (n.2883C>T)
c.2939C>T (p.Thr980Ile)
c.3539C>T (p.Thr1180Ile)
c.3044C>T (p.Thr1015Ile)
c.3557C>T (p.Thr1186Ile)
c.3275C>T (p.Thr1092Ile)
c.3419C>T (p.Thr1140Ile)
c.3416C>T (p.Thr1139Ile)
c.3278C>T (p.Thr1093Ile)
c.2951C>T (p.Thr984Ile)
c.2948C>T (p.Thr983Ile)
c.3047C>T (p.Thr1016Ile)
c.*2975C>T (n.*2975C>T)
c.2106+182616C>T (n.2106+182616C>T)
n.38C>T
3g.184327324A>CCA437330522EIF2B5,EIF4G1c.3537A>C (p.Thr1179=)
c.3471A>C (p.Thr1157=)
c.2884A>C (n.2884A>C)
c.2940A>C (p.Thr980=)
c.3540A>C (p.Thr1180=)
c.3045A>C (p.Thr1015=)
c.3558A>C (p.Thr1186=)
c.3276A>C (p.Thr1092=)
c.3420A>C (p.Thr1140=)
c.3417A>C (p.Thr1139=)
c.3279A>C (p.Thr1093=)
c.2952A>C (p.Thr984=)
c.2949A>C (p.Thr983=)
c.3048A>C (p.Thr1016=)
c.*2976A>C (n.*2976A>C)
c.2106+182617A>C (n.2106+182617A>C)
n.39A>C
 gnomAD v4
3g.184327324A>GCA437330524EIF2B5,EIF4G1c.3537A>G (p.Thr1179=)
c.3471A>G (p.Thr1157=)
c.2884A>G (n.2884A>G)
c.2940A>G (p.Thr980=)
c.3540A>G (p.Thr1180=)
c.3045A>G (p.Thr1015=)
c.3558A>G (p.Thr1186=)
c.3276A>G (p.Thr1092=)
c.3420A>G (p.Thr1140=)
c.3417A>G (p.Thr1139=)
c.3279A>G (p.Thr1093=)
c.2952A>G (p.Thr984=)
c.2949A>G (p.Thr983=)
c.3048A>G (p.Thr1016=)
c.*2976A>G (n.*2976A>G)
c.2106+182617A>G (n.2106+182617A>G)
n.39A>G
3g.184327324A>TCA437330525EIF2B5,EIF4G1c.3537A>T (p.Thr1179=)
c.3471A>T (p.Thr1157=)
c.2884A>T (n.2884A>T)
c.2940A>T (p.Thr980=)
c.3540A>T (p.Thr1180=)
c.3045A>T (p.Thr1015=)
c.3558A>T (p.Thr1186=)
c.3276A>T (p.Thr1092=)
c.3420A>T (p.Thr1140=)
c.3417A>T (p.Thr1139=)
c.3279A>T (p.Thr1093=)
c.2952A>T (p.Thr984=)
c.2949A>T (p.Thr983=)
c.3048A>T (p.Thr1016=)
c.*2976A>T (n.*2976A>T)
c.2106+182617A>T (n.2106+182617A>T)
n.39A>T
 gnomAD v4
3g.184327325C>ACA355414819EIF2B5,EIF4G1c.3538C>A (p.Pro1180Thr)
c.3472C>A (p.Pro1158Thr)
c.2885C>A (n.2885C>A)
c.2941C>A (p.Pro981Thr)
c.3541C>A (p.Pro1181Thr)
c.3046C>A (p.Pro1016Thr)
c.3559C>A (p.Pro1187Thr)
c.3277C>A (p.Pro1093Thr)
c.3421C>A (p.Pro1141Thr)
c.3418C>A (p.Pro1140Thr)
c.3280C>A (p.Pro1094Thr)
c.2953C>A (p.Pro985Thr)
c.2950C>A (p.Pro984Thr)
c.3049C>A (p.Pro1017Thr)
c.*2977C>A (n.*2977C>A)
c.2106+182618C>A (n.2106+182618C>A)
n.40C>A
3g.184327325C=CA1425958286EIF2B5,EIF4G1c.3538C= (p.Pro1180=)
c.3472C= (p.Pro1158=)
c.2885C= (n.2885C=)
c.2941C= (p.Pro981=)
c.3541C= (p.Pro1181=)
c.3046C= (p.Pro1016=)
c.3559C= (p.Pro1187=)
c.3277C= (p.Pro1093=)
c.3421C= (p.Pro1141=)
c.3418C= (p.Pro1140=)
c.3280C= (p.Pro1094=)
c.2953C= (p.Pro985=)
c.2950C= (p.Pro984=)
c.3049C= (p.Pro1017=)
c.*2977C= (n.*2977C=)
c.2106+182618C= (n.2106+182618C=)
n.40C=
3g.184327325C>GCA355414817EIF2B5,EIF4G1c.3538C>G (p.Pro1180Ala)
c.3472C>G (p.Pro1158Ala)
c.2885C>G (n.2885C>G)
c.2941C>G (p.Pro981Ala)
c.3541C>G (p.Pro1181Ala)
c.3046C>G (p.Pro1016Ala)
c.3559C>G (p.Pro1187Ala)
c.3277C>G (p.Pro1093Ala)
c.3421C>G (p.Pro1141Ala)
c.3418C>G (p.Pro1140Ala)
c.3280C>G (p.Pro1094Ala)
c.2953C>G (p.Pro985Ala)
c.2950C>G (p.Pro984Ala)
c.3049C>G (p.Pro1017Ala)
c.*2977C>G (n.*2977C>G)
c.2106+182618C>G (n.2106+182618C>G)
n.40C>G
3g.184327325C>TCA2732842EIF2B5,EIF4G1c.3538C>T (p.Pro1180Ser)
c.3472C>T (p.Pro1158Ser)
c.2885C>T (n.2885C>T)
c.2941C>T (p.Pro981Ser)
c.3541C>T (p.Pro1181Ser)
c.3046C>T (p.Pro1016Ser)
c.3559C>T (p.Pro1187Ser)
c.3277C>T (p.Pro1093Ser)
c.3421C>T (p.Pro1141Ser)
c.3418C>T (p.Pro1140Ser)
c.3280C>T (p.Pro1094Ser)
c.2953C>T (p.Pro985Ser)
c.2950C>T (p.Pro984Ser)
c.3049C>T (p.Pro1017Ser)
c.*2977C>T (n.*2977C>T)
c.2106+182618C>T (n.2106+182618C>T)
n.40C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.184327326C>ACA355414823EIF2B5,EIF4G1c.3539C>A (p.Pro1180His)
c.3473C>A (p.Pro1158His)
c.2886C>A (n.2886C>A)
c.2942C>A (p.Pro981His)
c.3542C>A (p.Pro1181His)
c.3047C>A (p.Pro1016His)
c.3560C>A (p.Pro1187His)
c.3278C>A (p.Pro1093His)
c.3422C>A (p.Pro1141His)
c.3419C>A (p.Pro1140His)
c.3281C>A (p.Pro1094His)
c.2954C>A (p.Pro985His)
c.2951C>A (p.Pro984His)
c.3050C>A (p.Pro1017His)
c.*2978C>A (n.*2978C>A)
c.2106+182619C>A (n.2106+182619C>A)
n.41C>A
3g.184327326C>GCA355414828EIF2B5,EIF4G1c.3539C>G (p.Pro1180Arg)
c.3473C>G (p.Pro1158Arg)
c.2886C>G (n.2886C>G)
c.2942C>G (p.Pro981Arg)
c.3542C>G (p.Pro1181Arg)
c.3047C>G (p.Pro1016Arg)
c.3560C>G (p.Pro1187Arg)
c.3278C>G (p.Pro1093Arg)
c.3422C>G (p.Pro1141Arg)
c.3419C>G (p.Pro1140Arg)
c.3281C>G (p.Pro1094Arg)
c.2954C>G (p.Pro985Arg)
c.2951C>G (p.Pro984Arg)
c.3050C>G (p.Pro1017Arg)
c.*2978C>G (n.*2978C>G)
c.2106+182619C>G (n.2106+182619C>G)
n.41C>G
3g.184327326C>TCA355414833EIF2B5,EIF4G1c.3539C>T (p.Pro1180Leu)
c.3473C>T (p.Pro1158Leu)
c.2886C>T (n.2886C>T)
c.2942C>T (p.Pro981Leu)
c.3542C>T (p.Pro1181Leu)
c.3047C>T (p.Pro1016Leu)
c.3560C>T (p.Pro1187Leu)
c.3278C>T (p.Pro1093Leu)
c.3422C>T (p.Pro1141Leu)
c.3419C>T (p.Pro1140Leu)
c.3281C>T (p.Pro1094Leu)
c.2954C>T (p.Pro985Leu)
c.2951C>T (p.Pro984Leu)
c.3050C>T (p.Pro1017Leu)
c.*2978C>T (n.*2978C>T)
c.2106+182619C>T (n.2106+182619C>T)
n.41C>T
3g.184327328_184327330delCA2577978169EIF2B5,EIF4G1c.3541_3543del (p.Ala1181del)
c.3475_3477del (p.Ala1159del)
c.2888_2890del (n.2888_2890del)
c.2944_2946del (p.Ala982del)
c.3544_3546del (p.Ala1182del)
c.3049_3051del (p.Ala1017del)
c.3562_3564del (p.Ala1188del)
c.3280_3282del (p.Ala1094del)
c.3424_3426del (p.Ala1142del)
c.3421_3423del (p.Ala1141del)
c.3283_3285del (p.Ala1095del)
c.2956_2958del (p.Ala986del)
c.2953_2955del (p.Ala985del)
c.3052_3054del (p.Ala1018del)
c.*2980_*2982del (n.*2980_*2982del)
c.2106+182621_2106+182623del (n.2106+182621_2106+182623del)
n.43_45del
3g.184327327T>ACA437330531EIF2B5,EIF4G1c.3540T>A (p.Pro1180=)
c.3474T>A (p.Pro1158=)
c.2887T>A (n.2887T>A)
c.2943T>A (p.Pro981=)
c.3543T>A (p.Pro1181=)
c.3048T>A (p.Pro1016=)
c.3561T>A (p.Pro1187=)
c.3279T>A (p.Pro1093=)
c.3423T>A (p.Pro1141=)
c.3420T>A (p.Pro1140=)
c.3282T>A (p.Pro1094=)
c.2955T>A (p.Pro985=)
c.2952T>A (p.Pro984=)
c.3051T>A (p.Pro1017=)
c.*2979T>A (n.*2979T>A)
c.2106+182620T>A (n.2106+182620T>A)
n.42T>A
3g.184327327T>CCA437330527EIF2B5,EIF4G1c.3540T>C (p.Pro1180=)
c.3474T>C (p.Pro1158=)
c.2887T>C (n.2887T>C)
c.2943T>C (p.Pro981=)
c.3543T>C (p.Pro1181=)
c.3048T>C (p.Pro1016=)
c.3561T>C (p.Pro1187=)
c.3279T>C (p.Pro1093=)
c.3423T>C (p.Pro1141=)
c.3420T>C (p.Pro1140=)
c.3282T>C (p.Pro1094=)
c.2955T>C (p.Pro985=)
c.2952T>C (p.Pro984=)
c.3051T>C (p.Pro1017=)
c.*2979T>C (n.*2979T>C)
c.2106+182620T>C (n.2106+182620T>C)
n.42T>C
3g.184327327T>GCA437330529EIF2B5,EIF4G1c.3540T>G (p.Pro1180=)
c.3474T>G (p.Pro1158=)
c.2887T>G (n.2887T>G)
c.2943T>G (p.Pro981=)
c.3543T>G (p.Pro1181=)
c.3048T>G (p.Pro1016=)
c.3561T>G (p.Pro1187=)
c.3279T>G (p.Pro1093=)
c.3423T>G (p.Pro1141=)
c.3420T>G (p.Pro1140=)
c.3282T>G (p.Pro1094=)
c.2955T>G (p.Pro985=)
c.2952T>G (p.Pro984=)
c.3051T>G (p.Pro1017=)
c.*2979T>G (n.*2979T>G)
c.2106+182620T>G (n.2106+182620T>G)
n.42T>G
3g.184327328G>ACA355414836EIF2B5,EIF4G1c.3541G>A (p.Ala1181Thr)
c.3475G>A (p.Ala1159Thr)
c.2888G>A (n.2888G>A)
c.2944G>A (p.Ala982Thr)
c.3544G>A (p.Ala1182Thr)
c.3049G>A (p.Ala1017Thr)
c.3562G>A (p.Ala1188Thr)
c.3280G>A (p.Ala1094Thr)
c.3424G>A (p.Ala1142Thr)
c.3421G>A (p.Ala1141Thr)
c.3283G>A (p.Ala1095Thr)
c.2956G>A (p.Ala986Thr)
c.2953G>A (p.Ala985Thr)
c.3052G>A (p.Ala1018Thr)
c.*2980G>A (n.*2980G>A)
c.2106+182621G>A (n.2106+182621G>A)
n.43G>A
 dbSNP
3g.184327328G>CCA355414843EIF2B5,EIF4G1c.3541G>C (p.Ala1181Pro)
c.3475G>C (p.Ala1159Pro)
c.2888G>C (n.2888G>C)
c.2944G>C (p.Ala982Pro)
c.3544G>C (p.Ala1182Pro)
c.3049G>C (p.Ala1017Pro)
c.3562G>C (p.Ala1188Pro)
c.3280G>C (p.Ala1094Pro)
c.3424G>C (p.Ala1142Pro)
c.3421G>C (p.Ala1141Pro)
c.3283G>C (p.Ala1095Pro)
c.2956G>C (p.Ala986Pro)
c.2953G>C (p.Ala985Pro)
c.3052G>C (p.Ala1018Pro)
c.*2980G>C (n.*2980G>C)
c.2106+182621G>C (n.2106+182621G>C)
n.43G>C
 dbSNP gnomAD v3 gnomAD v4
3g.184327328G=CA1425958290EIF2B5,EIF4G1c.3541G= (p.Ala1181=)
c.3475G= (p.Ala1159=)
c.2888G= (n.2888G=)
c.2944G= (p.Ala982=)
c.3544G= (p.Ala1182=)
c.3049G= (p.Ala1017=)
c.3562G= (p.Ala1188=)
c.3280G= (p.Ala1094=)
c.3424G= (p.Ala1142=)
c.3421G= (p.Ala1141=)
c.3283G= (p.Ala1095=)
c.2956G= (p.Ala986=)
c.2953G= (p.Ala985=)
c.3052G= (p.Ala1018=)
c.*2980G= (n.*2980G=)
c.2106+182621G= (n.2106+182621G=)
n.43G=
3g.184327328G>TCA355414846EIF2B5,EIF4G1c.3541G>T (p.Ala1181Ser)
c.3475G>T (p.Ala1159Ser)
c.2888G>T (n.2888G>T)
c.2944G>T (p.Ala982Ser)
c.3544G>T (p.Ala1182Ser)
c.3049G>T (p.Ala1017Ser)
c.3562G>T (p.Ala1188Ser)
c.3280G>T (p.Ala1094Ser)
c.3424G>T (p.Ala1142Ser)
c.3421G>T (p.Ala1141Ser)
c.3283G>T (p.Ala1095Ser)
c.2956G>T (p.Ala986Ser)
c.2953G>T (p.Ala985Ser)
c.3052G>T (p.Ala1018Ser)
c.*2980G>T (n.*2980G>T)
c.2106+182621G>T (n.2106+182621G>T)
n.43G>T
3g.184327329C>ACA2732843EIF2B5,EIF4G1c.3542C>A (p.Ala1181Asp)
c.3476C>A (p.Ala1159Asp)
c.2889C>A (n.2889C>A)
c.2945C>A (p.Ala982Asp)
c.3545C>A (p.Ala1182Asp)
c.3050C>A (p.Ala1017Asp)
c.3563C>A (p.Ala1188Asp)
c.3281C>A (p.Ala1094Asp)
c.3425C>A (p.Ala1142Asp)
c.3422C>A (p.Ala1141Asp)
c.3284C>A (p.Ala1095Asp)
c.2957C>A (p.Ala986Asp)
c.2954C>A (p.Ala985Asp)
c.3053C>A (p.Ala1018Asp)
c.*2981C>A (n.*2981C>A)
c.2106+182622C>A (n.2106+182622C>A)
n.44C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.184327329C=CA1425958294EIF2B5,EIF4G1c.3542C= (p.Ala1181=)
c.3476C= (p.Ala1159=)
c.2889C= (n.2889C=)
c.2945C= (p.Ala982=)
c.3545C= (p.Ala1182=)
c.3050C= (p.Ala1017=)
c.3563C= (p.Ala1188=)
c.3281C= (p.Ala1094=)
c.3425C= (p.Ala1142=)
c.3422C= (p.Ala1141=)
c.3284C= (p.Ala1095=)
c.2957C= (p.Ala986=)
c.2954C= (p.Ala985=)
c.3053C= (p.Ala1018=)
c.*2981C= (n.*2981C=)
c.2106+182622C= (n.2106+182622C=)
n.44C=
3g.184327329C>GCA2732844EIF2B5,EIF4G1c.3542C>G (p.Ala1181Gly)
c.3476C>G (p.Ala1159Gly)
c.2889C>G (n.2889C>G)
c.2945C>G (p.Ala982Gly)
c.3545C>G (p.Ala1182Gly)
c.3050C>G (p.Ala1017Gly)
c.3563C>G (p.Ala1188Gly)
c.3281C>G (p.Ala1094Gly)
c.3425C>G (p.Ala1142Gly)
c.3422C>G (p.Ala1141Gly)
c.3284C>G (p.Ala1095Gly)
c.2957C>G (p.Ala986Gly)
c.2954C>G (p.Ala985Gly)
c.3053C>G (p.Ala1018Gly)
c.*2981C>G (n.*2981C>G)
c.2106+182622C>G (n.2106+182622C>G)
n.44C>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.184327329C>TCA355414850EIF2B5,EIF4G1c.3542C>T (p.Ala1181Val)
c.3476C>T (p.Ala1159Val)
c.2889C>T (n.2889C>T)
c.2945C>T (p.Ala982Val)
c.3545C>T (p.Ala1182Val)
c.3050C>T (p.Ala1017Val)
c.3563C>T (p.Ala1188Val)
c.3281C>T (p.Ala1094Val)
c.3425C>T (p.Ala1142Val)
c.3422C>T (p.Ala1141Val)
c.3284C>T (p.Ala1095Val)
c.2957C>T (p.Ala986Val)
c.2954C>T (p.Ala985Val)
c.3053C>T (p.Ala1018Val)
c.*2981C>T (n.*2981C>T)
c.2106+182622C>T (n.2106+182622C>T)
n.44C>T
3g.184327330T>ACA437330533EIF2B5,EIF4G1c.3543T>A (p.Ala1181=)
c.3477T>A (p.Ala1159=)
c.2890T>A (n.2890T>A)
c.2946T>A (p.Ala982=)
c.3546T>A (p.Ala1182=)
c.3051T>A (p.Ala1017=)
c.3564T>A (p.Ala1188=)
c.3282T>A (p.Ala1094=)
c.3426T>A (p.Ala1142=)
c.3423T>A (p.Ala1141=)
c.3285T>A (p.Ala1095=)
c.2958T>A (p.Ala986=)
c.2955T>A (p.Ala985=)
c.3054T>A (p.Ala1018=)
c.*2982T>A (n.*2982T>A)
c.2106+182623T>A (n.2106+182623T>A)
n.45T>A
3g.184327330T>CCA437330534EIF2B5,EIF4G1c.3543T>C (p.Ala1181=)
c.3477T>C (p.Ala1159=)
c.2890T>C (n.2890T>C)
c.2946T>C (p.Ala982=)
c.3546T>C (p.Ala1182=)
c.3051T>C (p.Ala1017=)
c.3564T>C (p.Ala1188=)
c.3282T>C (p.Ala1094=)
c.3426T>C (p.Ala1142=)
c.3423T>C (p.Ala1141=)
c.3285T>C (p.Ala1095=)
c.2958T>C (p.Ala986=)
c.2955T>C (p.Ala985=)
c.3054T>C (p.Ala1018=)
c.*2982T>C (n.*2982T>C)
c.2106+182623T>C (n.2106+182623T>C)
n.45T>C
 gnomAD v4
3g.184327330T>GCA437330535EIF2B5,EIF4G1c.3543T>G (p.Ala1181=)
c.3477T>G (p.Ala1159=)
c.2890T>G (n.2890T>G)
c.2946T>G (p.Ala982=)
c.3546T>G (p.Ala1182=)
c.3051T>G (p.Ala1017=)
c.3564T>G (p.Ala1188=)
c.3282T>G (p.Ala1094=)
c.3426T>G (p.Ala1142=)
c.3423T>G (p.Ala1141=)
c.3285T>G (p.Ala1095=)
c.2958T>G (p.Ala986=)
c.2955T>G (p.Ala985=)
c.3054T>G (p.Ala1018=)
c.*2982T>G (n.*2982T>G)
c.2106+182623T>G (n.2106+182623T>G)
n.45T>G
3g.184327331A=CA1425958299EIF2B5,EIF4G1c.3544A= (p.Thr1182=)
c.3478A= (p.Thr1160=)
c.2891A= (n.2891A=)
c.2947A= (p.Thr983=)
c.3547A= (p.Thr1183=)
c.3052A= (p.Thr1018=)
c.3565A= (p.Thr1189=)
c.3283A= (p.Thr1095=)
c.3427A= (p.Thr1143=)
c.3424A= (p.Thr1142=)
c.3286A= (p.Thr1096=)
c.2959A= (p.Thr987=)
c.2956A= (p.Thr986=)
c.3055A= (p.Thr1019=)
c.*2983A= (n.*2983A=)
c.2106+182624A= (n.2106+182624A=)
n.46A=
3g.184327331A>CCA355414853EIF2B5,EIF4G1c.3544A>C (p.Thr1182Pro)
c.3478A>C (p.Thr1160Pro)
c.2891A>C (n.2891A>C)
c.2947A>C (p.Thr983Pro)
c.3547A>C (p.Thr1183Pro)
c.3052A>C (p.Thr1018Pro)
c.3565A>C (p.Thr1189Pro)
c.3283A>C (p.Thr1095Pro)
c.3427A>C (p.Thr1143Pro)
c.3424A>C (p.Thr1142Pro)
c.3286A>C (p.Thr1096Pro)
c.2959A>C (p.Thr987Pro)
c.2956A>C (p.Thr986Pro)
c.3055A>C (p.Thr1019Pro)
c.*2983A>C (n.*2983A>C)
c.2106+182624A>C (n.2106+182624A>C)
n.46A>C
3g.184327331A>GCA2732845EIF2B5,EIF4G1c.3544A>G (p.Thr1182Ala)
c.3478A>G (p.Thr1160Ala)
c.2891A>G (n.2891A>G)
c.2947A>G (p.Thr983Ala)
c.3547A>G (p.Thr1183Ala)
c.3052A>G (p.Thr1018Ala)
c.3565A>G (p.Thr1189Ala)
c.3283A>G (p.Thr1095Ala)
c.3427A>G (p.Thr1143Ala)
c.3424A>G (p.Thr1142Ala)
c.3286A>G (p.Thr1096Ala)
c.2959A>G (p.Thr987Ala)
c.2956A>G (p.Thr986Ala)
c.3055A>G (p.Thr1019Ala)
c.*2983A>G (n.*2983A>G)
c.2106+182624A>G (n.2106+182624A>G)
n.46A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.184327331A>TCA355414864EIF2B5,EIF4G1c.3544A>T (p.Thr1182Ser)
c.3478A>T (p.Thr1160Ser)
c.2891A>T (n.2891A>T)
c.2947A>T (p.Thr983Ser)
c.3547A>T (p.Thr1183Ser)
c.3052A>T (p.Thr1018Ser)
c.3565A>T (p.Thr1189Ser)
c.3283A>T (p.Thr1095Ser)
c.3427A>T (p.Thr1143Ser)
c.3424A>T (p.Thr1142Ser)
c.3286A>T (p.Thr1096Ser)
c.2959A>T (p.Thr987Ser)
c.2956A>T (p.Thr986Ser)
c.3055A>T (p.Thr1019Ser)
c.*2983A>T (n.*2983A>T)
c.2106+182624A>T (n.2106+182624A>T)
n.46A>T
3g.184327332C>ACA355414878EIF2B5,EIF4G1c.3545C>A (p.Thr1182Asn)
c.3479C>A (p.Thr1160Asn)
c.2892C>A (n.2892C>A)
c.2948C>A (p.Thr983Asn)
c.3548C>A (p.Thr1183Asn)
c.3053C>A (p.Thr1018Asn)
c.3566C>A (p.Thr1189Asn)
c.3284C>A (p.Thr1095Asn)
c.3428C>A (p.Thr1143Asn)
c.3425C>A (p.Thr1142Asn)
c.3287C>A (p.Thr1096Asn)
c.2960C>A (p.Thr987Asn)
c.2957C>A (p.Thr986Asn)
c.3056C>A (p.Thr1019Asn)
c.*2984C>A (n.*2984C>A)
c.2106+182625C>A (n.2106+182625C>A)
n.47C>A
3g.184327332C>GCA355414882EIF2B5,EIF4G1c.3545C>G (p.Thr1182Ser)
c.3479C>G (p.Thr1160Ser)
c.2892C>G (n.2892C>G)
c.2948C>G (p.Thr983Ser)
c.3548C>G (p.Thr1183Ser)
c.3053C>G (p.Thr1018Ser)
c.3566C>G (p.Thr1189Ser)
c.3284C>G (p.Thr1095Ser)
c.3428C>G (p.Thr1143Ser)
c.3425C>G (p.Thr1142Ser)
c.3287C>G (p.Thr1096Ser)
c.2960C>G (p.Thr987Ser)
c.2957C>G (p.Thr986Ser)
c.3056C>G (p.Thr1019Ser)
c.*2984C>G (n.*2984C>G)
c.2106+182625C>G (n.2106+182625C>G)
n.47C>G
3g.184327332C>TCA355414868EIF2B5,EIF4G1c.3545C>T (p.Thr1182Ile)
c.3479C>T (p.Thr1160Ile)
c.2892C>T (n.2892C>T)
c.2948C>T (p.Thr983Ile)
c.3548C>T (p.Thr1183Ile)
c.3053C>T (p.Thr1018Ile)
c.3566C>T (p.Thr1189Ile)
c.3284C>T (p.Thr1095Ile)
c.3428C>T (p.Thr1143Ile)
c.3425C>T (p.Thr1142Ile)
c.3287C>T (p.Thr1096Ile)
c.2960C>T (p.Thr987Ile)
c.2957C>T (p.Thr986Ile)
c.3056C>T (p.Thr1019Ile)
c.*2984C>T (n.*2984C>T)
c.2106+182625C>T (n.2106+182625C>T)
n.47C>T
 gnomAD v4
3g.184327333C>ACA437330536EIF2B5,EIF4G1c.3546C>A (p.Thr1182=)
c.3480C>A (p.Thr1160=)
c.2893C>A (n.2893C>A)
c.2949C>A (p.Thr983=)
c.3549C>A (p.Thr1183=)
c.3054C>A (p.Thr1018=)
c.3567C>A (p.Thr1189=)
c.3285C>A (p.Thr1095=)
c.3429C>A (p.Thr1143=)
c.3426C>A (p.Thr1142=)
c.3288C>A (p.Thr1096=)
c.2961C>A (p.Thr987=)
c.2958C>A (p.Thr986=)
c.3057C>A (p.Thr1019=)
c.*2985C>A (n.*2985C>A)
c.2106+182626C>A (n.2106+182626C>A)
n.48C>A
3g.184327333C>GCA437330537EIF2B5,EIF4G1c.3546C>G (p.Thr1182=)
c.3480C>G (p.Thr1160=)
c.2893C>G (n.2893C>G)
c.2949C>G (p.Thr983=)
c.3549C>G (p.Thr1183=)
c.3054C>G (p.Thr1018=)
c.3567C>G (p.Thr1189=)
c.3285C>G (p.Thr1095=)
c.3429C>G (p.Thr1143=)
c.3426C>G (p.Thr1142=)
c.3288C>G (p.Thr1096=)
c.2961C>G (p.Thr987=)
c.2958C>G (p.Thr986=)
c.3057C>G (p.Thr1019=)
c.*2985C>G (n.*2985C>G)
c.2106+182626C>G (n.2106+182626C>G)
n.48C>G
3g.184327333C>TCA437330539EIF2B5,EIF4G1c.3546C>T (p.Thr1182=)
c.3480C>T (p.Thr1160=)
c.2893C>T (n.2893C>T)
c.2949C>T (p.Thr983=)
c.3549C>T (p.Thr1183=)
c.3054C>T (p.Thr1018=)
c.3567C>T (p.Thr1189=)
c.3285C>T (p.Thr1095=)
c.3429C>T (p.Thr1143=)
c.3426C>T (p.Thr1142=)
c.3288C>T (p.Thr1096=)
c.2961C>T (p.Thr987=)
c.2958C>T (p.Thr986=)
c.3057C>T (p.Thr1019=)
c.*2985C>T (n.*2985C>T)
c.2106+182626C>T (n.2106+182626C>T)
n.48C>T
3g.184327334A>CCA355414883EIF2B5,EIF4G1c.3547A>C (p.Lys1183Gln)
c.3481A>C (p.Lys1161Gln)
c.2894A>C (n.2894A>C)
c.2950A>C (p.Lys984Gln)
c.3550A>C (p.Lys1184Gln)
c.3055A>C (p.Lys1019Gln)
c.3568A>C (p.Lys1190Gln)
c.3286A>C (p.Lys1096Gln)
c.3430A>C (p.Lys1144Gln)
c.3427A>C (p.Lys1143Gln)
c.3289A>C (p.Lys1097Gln)
c.2962A>C (p.Lys988Gln)
c.2959A>C (p.Lys987Gln)
c.3058A>C (p.Lys1020Gln)
c.*2986A>C (n.*2986A>C)
c.2106+182627A>C (n.2106+182627A>C)
n.49A>C
3g.184327334A>GCA355414884EIF2B5,EIF4G1c.3547A>G (p.Lys1183Glu)
c.3481A>G (p.Lys1161Glu)
c.2894A>G (n.2894A>G)
c.2950A>G (p.Lys984Glu)
c.3550A>G (p.Lys1184Glu)
c.3055A>G (p.Lys1019Glu)
c.3568A>G (p.Lys1190Glu)
c.3286A>G (p.Lys1096Glu)
c.3430A>G (p.Lys1144Glu)
c.3427A>G (p.Lys1143Glu)
c.3289A>G (p.Lys1097Glu)
c.2962A>G (p.Lys988Glu)
c.2959A>G (p.Lys987Glu)
c.3058A>G (p.Lys1020Glu)
c.*2986A>G (n.*2986A>G)
c.2106+182627A>G (n.2106+182627A>G)
n.49A>G
3g.184327334A>TCA355414885EIF2B5,EIF4G1c.3547A>T (p.Lys1183Ter)
c.3481A>T (p.Lys1161Ter)
c.2894A>T (n.2894A>T)
c.2950A>T (p.Lys984Ter)
c.3550A>T (p.Lys1184Ter)
c.3055A>T (p.Lys1019Ter)
c.3568A>T (p.Lys1190Ter)
c.3286A>T (p.Lys1096Ter)
c.3430A>T (p.Lys1144Ter)
c.3427A>T (p.Lys1143Ter)
c.3289A>T (p.Lys1097Ter)
c.2962A>T (p.Lys988Ter)
c.2959A>T (p.Lys987Ter)
c.3058A>T (p.Lys1020Ter)
c.*2986A>T (n.*2986A>T)
c.2106+182627A>T (n.2106+182627A>T)
n.49A>T
3g.184327335A>CCA355414887EIF2B5,EIF4G1c.3548A>C (p.Lys1183Thr)
c.3482A>C (p.Lys1161Thr)
c.2895A>C (n.2895A>C)
c.2951A>C (p.Lys984Thr)
c.3551A>C (p.Lys1184Thr)
c.3056A>C (p.Lys1019Thr)
c.3569A>C (p.Lys1190Thr)
c.3287A>C (p.Lys1096Thr)
c.3431A>C (p.Lys1144Thr)
c.3428A>C (p.Lys1143Thr)
c.3290A>C (p.Lys1097Thr)
c.2963A>C (p.Lys988Thr)
c.2960A>C (p.Lys987Thr)
c.3059A>C (p.Lys1020Thr)
c.*2987A>C (n.*2987A>C)
c.2106+182628A>C (n.2106+182628A>C)
n.50A>C
3g.184327335A>GCA355414889EIF2B5,EIF4G1c.3548A>G (p.Lys1183Arg)
c.3482A>G (p.Lys1161Arg)
c.2895A>G (n.2895A>G)
c.2951A>G (p.Lys984Arg)
c.3551A>G (p.Lys1184Arg)
c.3056A>G (p.Lys1019Arg)
c.3569A>G (p.Lys1190Arg)
c.3287A>G (p.Lys1096Arg)
c.3431A>G (p.Lys1144Arg)
c.3428A>G (p.Lys1143Arg)
c.3290A>G (p.Lys1097Arg)
c.2963A>G (p.Lys988Arg)
c.2960A>G (p.Lys987Arg)
c.3059A>G (p.Lys1020Arg)
c.*2987A>G (n.*2987A>G)
c.2106+182628A>G (n.2106+182628A>G)
n.50A>G
3g.184327335A>TCA355414893EIF2B5,EIF4G1c.3548A>T (p.Lys1183Met)
c.3482A>T (p.Lys1161Met)
c.2895A>T (n.2895A>T)
c.2951A>T (p.Lys984Met)
c.3551A>T (p.Lys1184Met)
c.3056A>T (p.Lys1019Met)
c.3569A>T (p.Lys1190Met)
c.3287A>T (p.Lys1096Met)
c.3431A>T (p.Lys1144Met)
c.3428A>T (p.Lys1143Met)
c.3290A>T (p.Lys1097Met)
c.2963A>T (p.Lys988Met)
c.2960A>T (p.Lys987Met)
c.3059A>T (p.Lys1020Met)
c.*2987A>T (n.*2987A>T)
c.2106+182628A>T (n.2106+182628A>T)
n.50A>T
3g.184327336G>ACA437330542EIF2B5,EIF4G1c.3549G>A (p.Lys1183=)
c.3483G>A (p.Lys1161=)
c.2896G>A (n.2896G>A)
c.2952G>A (p.Lys984=)
c.3552G>A (p.Lys1184=)
c.3057G>A (p.Lys1019=)
c.3570G>A (p.Lys1190=)
c.3288G>A (p.Lys1096=)
c.3432G>A (p.Lys1144=)
c.3429G>A (p.Lys1143=)
c.3291G>A (p.Lys1097=)
c.2964G>A (p.Lys988=)
c.2961G>A (p.Lys987=)
c.3060G>A (p.Lys1020=)
c.*2988G>A (n.*2988G>A)
c.2106+182629G>A (n.2106+182629G>A)
n.51G>A
 dbSNP gnomAD v2 gnomAD v4
3g.184327336G>CCA355414895EIF2B5,EIF4G1c.3549G>C (p.Lys1183Asn)
c.3483G>C (p.Lys1161Asn)
c.2896G>C (n.2896G>C)
c.2952G>C (p.Lys984Asn)
c.3552G>C (p.Lys1184Asn)
c.3057G>C (p.Lys1019Asn)
c.3570G>C (p.Lys1190Asn)
c.3288G>C (p.Lys1096Asn)
c.3432G>C (p.Lys1144Asn)
c.3429G>C (p.Lys1143Asn)
c.3291G>C (p.Lys1097Asn)
c.2964G>C (p.Lys988Asn)
c.2961G>C (p.Lys987Asn)
c.3060G>C (p.Lys1020Asn)
c.*2988G>C (n.*2988G>C)
c.2106+182629G>C (n.2106+182629G>C)
n.51G>C
3g.184327336G=CA1425958301EIF2B5,EIF4G1c.3549G= (p.Lys1183=)
c.3483G= (p.Lys1161=)
c.2896G= (n.2896G=)
c.2952G= (p.Lys984=)
c.3552G= (p.Lys1184=)
c.3057G= (p.Lys1019=)
c.3570G= (p.Lys1190=)
c.3288G= (p.Lys1096=)
c.3432G= (p.Lys1144=)
c.3429G= (p.Lys1143=)
c.3291G= (p.Lys1097=)
c.2964G= (p.Lys988=)
c.2961G= (p.Lys987=)
c.3060G= (p.Lys1020=)
c.*2988G= (n.*2988G=)
c.2106+182629G= (n.2106+182629G=)
n.51G=
3g.184327336G>TCA355414897EIF2B5,EIF4G1c.3549G>T (p.Lys1183Asn)
c.3483G>T (p.Lys1161Asn)
c.2896G>T (n.2896G>T)
c.2952G>T (p.Lys984Asn)
c.3552G>T (p.Lys1184Asn)
c.3057G>T (p.Lys1019Asn)
c.3570G>T (p.Lys1190Asn)
c.3288G>T (p.Lys1096Asn)
c.3432G>T (p.Lys1144Asn)
c.3429G>T (p.Lys1143Asn)
c.3291G>T (p.Lys1097Asn)
c.2964G>T (p.Lys988Asn)
c.2961G>T (p.Lys987Asn)
c.3060G>T (p.Lys1020Asn)
c.*2988G>T (n.*2988G>T)
c.2106+182629G>T (n.2106+182629G>T)
n.51G>T
3g.184327337C>ACA437330544EIF2B5,EIF4G1c.3550C>A (p.Arg1184=)
c.3484C>A (p.Arg1162=)
c.2897C>A (n.2897C>A)
c.2953C>A (p.Arg985=)
c.3553C>A (p.Arg1185=)
c.3058C>A (p.Arg1020=)
c.3571C>A (p.Arg1191=)
c.3289C>A (p.Arg1097=)
c.3433C>A (p.Arg1145=)
c.3430C>A (p.Arg1144=)
c.3292C>A (p.Arg1098=)
c.2965C>A (p.Arg989=)
c.2962C>A (p.Arg988=)
c.3061C>A (p.Arg1021=)
c.*2989C>A (n.*2989C>A)
c.2106+182630C>A (n.2106+182630C>A)
n.52C>A
3g.184327337C=CA1425958306EIF2B5,EIF4G1c.3550C= (p.Arg1184=)
c.3484C= (p.Arg1162=)
c.2897C= (n.2897C=)
c.2953C= (p.Arg985=)
c.3553C= (p.Arg1185=)
c.3058C= (p.Arg1020=)
c.3571C= (p.Arg1191=)
c.3289C= (p.Arg1097=)
c.3433C= (p.Arg1145=)
c.3430C= (p.Arg1144=)
c.3292C= (p.Arg1098=)
c.2965C= (p.Arg989=)
c.2962C= (p.Arg988=)
c.3061C= (p.Arg1021=)
c.*2989C= (n.*2989C=)
c.2106+182630C= (n.2106+182630C=)
n.52C=
3g.184327337C>GCA355414902EIF2B5,EIF4G1c.3550C>G (p.Arg1184Gly)
c.3484C>G (p.Arg1162Gly)
c.2897C>G (n.2897C>G)
c.2953C>G (p.Arg985Gly)
c.3553C>G (p.Arg1185Gly)
c.3058C>G (p.Arg1020Gly)
c.3571C>G (p.Arg1191Gly)
c.3289C>G (p.Arg1097Gly)
c.3433C>G (p.Arg1145Gly)
c.3430C>G (p.Arg1144Gly)
c.3292C>G (p.Arg1098Gly)
c.2965C>G (p.Arg989Gly)
c.2962C>G (p.Arg988Gly)
c.3061C>G (p.Arg1021Gly)
c.*2989C>G (n.*2989C>G)
c.2106+182630C>G (n.2106+182630C>G)
n.52C>G
3g.184327337C>TCA355414904EIF2B5,EIF4G1c.3550C>T (p.Arg1184Trp)
c.3484C>T (p.Arg1162Trp)
c.2897C>T (n.2897C>T)
c.2953C>T (p.Arg985Trp)
c.3553C>T (p.Arg1185Trp)
c.3058C>T (p.Arg1020Trp)
c.3571C>T (p.Arg1191Trp)
c.3289C>T (p.Arg1097Trp)
c.3433C>T (p.Arg1145Trp)
c.3430C>T (p.Arg1144Trp)
c.3292C>T (p.Arg1098Trp)
c.2965C>T (p.Arg989Trp)
c.2962C>T (p.Arg988Trp)
c.3061C>T (p.Arg1021Trp)
c.*2989C>T (n.*2989C>T)
c.2106+182630C>T (n.2106+182630C>T)
n.52C>T
 ClinVar dbSNP gnomAD v4
3g.184327338G>ACA2732846EIF2B5,EIF4G1c.3551G>A (p.Arg1184Gln)
c.3485G>A (p.Arg1162Gln)
c.2898G>A (n.2898G>A)
c.2954G>A (p.Arg985Gln)
c.3554G>A (p.Arg1185Gln)
c.3059G>A (p.Arg1020Gln)
c.3572G>A (p.Arg1191Gln)
c.3290G>A (p.Arg1097Gln)
c.3434G>A (p.Arg1145Gln)
c.3431G>A (p.Arg1144Gln)
c.3293G>A (p.Arg1098Gln)
c.2966G>A (p.Arg989Gln)
c.2963G>A (p.Arg988Gln)
c.3062G>A (p.Arg1021Gln)
c.*2990G>A (n.*2990G>A)
c.2106+182631G>A (n.2106+182631G>A)
n.53G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
3g.184327338G>CCA355414911EIF2B5,EIF4G1c.3551G>C (p.Arg1184Pro)
c.3485G>C (p.Arg1162Pro)
c.2898G>C (n.2898G>C)
c.2954G>C (p.Arg985Pro)
c.3554G>C (p.Arg1185Pro)
c.3059G>C (p.Arg1020Pro)
c.3572G>C (p.Arg1191Pro)
c.3290G>C (p.Arg1097Pro)
c.3434G>C (p.Arg1145Pro)
c.3431G>C (p.Arg1144Pro)
c.3293G>C (p.Arg1098Pro)
c.2966G>C (p.Arg989Pro)
c.2963G>C (p.Arg988Pro)
c.3062G>C (p.Arg1021Pro)
c.*2990G>C (n.*2990G>C)
c.2106+182631G>C (n.2106+182631G>C)
n.53G>C
3g.184327338G=CA1425958309EIF2B5,EIF4G1c.3551G= (p.Arg1184=)
c.3485G= (p.Arg1162=)
c.2898G= (n.2898G=)
c.2954G= (p.Arg985=)
c.3554G= (p.Arg1185=)
c.3059G= (p.Arg1020=)
c.3572G= (p.Arg1191=)
c.3290G= (p.Arg1097=)
c.3434G= (p.Arg1145=)
c.3431G= (p.Arg1144=)
c.3293G= (p.Arg1098=)
c.2966G= (p.Arg989=)
c.2963G= (p.Arg988=)
c.3062G= (p.Arg1021=)
c.*2990G= (n.*2990G=)
c.2106+182631G= (n.2106+182631G=)
n.53G=
3g.184327338G>TCA355414914EIF2B5,EIF4G1c.3551G>T (p.Arg1184Leu)
c.3485G>T (p.Arg1162Leu)
c.2898G>T (n.2898G>T)
c.2954G>T (p.Arg985Leu)
c.3554G>T (p.Arg1185Leu)
c.3059G>T (p.Arg1020Leu)
c.3572G>T (p.Arg1191Leu)
c.3290G>T (p.Arg1097Leu)
c.3434G>T (p.Arg1145Leu)
c.3431G>T (p.Arg1144Leu)
c.3293G>T (p.Arg1098Leu)
c.2966G>T (p.Arg989Leu)
c.2963G>T (p.Arg988Leu)
c.3062G>T (p.Arg1021Leu)
c.*2990G>T (n.*2990G>T)
c.2106+182631G>T (n.2106+182631G>T)
n.53G>T
3g.184327339G>ACA437330546EIF2B5,EIF4G1c.3552G>A (p.Arg1184=)
c.3486G>A (p.Arg1162=)
c.2899G>A (n.2899G>A)
c.2955G>A (p.Arg985=)
c.3555G>A (p.Arg1185=)
c.3060G>A (p.Arg1020=)
c.3573G>A (p.Arg1191=)
c.3291G>A (p.Arg1097=)
c.3435G>A (p.Arg1145=)
c.3432G>A (p.Arg1144=)
c.3294G>A (p.Arg1098=)
c.2967G>A (p.Arg989=)
c.2964G>A (p.Arg988=)
c.3063G>A (p.Arg1021=)
c.*2991G>A (n.*2991G>A)
c.2106+182632G>A (n.2106+182632G>A)
n.54G>A
3g.184327339G>CCA437330547EIF2B5,EIF4G1c.3552G>C (p.Arg1184=)
c.3486G>C (p.Arg1162=)
c.2899G>C (n.2899G>C)
c.2955G>C (p.Arg985=)
c.3555G>C (p.Arg1185=)
c.3060G>C (p.Arg1020=)
c.3573G>C (p.Arg1191=)
c.3291G>C (p.Arg1097=)
c.3435G>C (p.Arg1145=)
c.3432G>C (p.Arg1144=)
c.3294G>C (p.Arg1098=)
c.2967G>C (p.Arg989=)
c.2964G>C (p.Arg988=)
c.3063G>C (p.Arg1021=)
c.*2991G>C (n.*2991G>C)
c.2106+182632G>C (n.2106+182632G>C)
n.54G>C
3g.184327339G=CA1425958312EIF2B5,EIF4G1c.3552G= (p.Arg1184=)
c.3486G= (p.Arg1162=)
c.2899G= (n.2899G=)
c.2955G= (p.Arg985=)
c.3555G= (p.Arg1185=)
c.3060G= (p.Arg1020=)
c.3573G= (p.Arg1191=)
c.3291G= (p.Arg1097=)
c.3435G= (p.Arg1145=)
c.3432G= (p.Arg1144=)
c.3294G= (p.Arg1098=)
c.2967G= (p.Arg989=)
c.2964G= (p.Arg988=)
c.3063G= (p.Arg1021=)
c.*2991G= (n.*2991G=)
c.2106+182632G= (n.2106+182632G=)
n.54G=
3g.184327339G>TCA437330548EIF2B5,EIF4G1c.3552G>T (p.Arg1184=)
c.3486G>T (p.Arg1162=)
c.2899G>T (n.2899G>T)
c.2955G>T (p.Arg985=)
c.3555G>T (p.Arg1185=)
c.3060G>T (p.Arg1020=)
c.3573G>T (p.Arg1191=)
c.3291G>T (p.Arg1097=)
c.3435G>T (p.Arg1145=)
c.3432G>T (p.Arg1144=)
c.3294G>T (p.Arg1098=)
c.2967G>T (p.Arg989=)
c.2964G>T (p.Arg988=)
c.3063G>T (p.Arg1021=)
c.*2991G>T (n.*2991G>T)
c.2106+182632G>T (n.2106+182632G>T)
n.54G>T
 dbSNP gnomAD v4
3g.184327340A>CCA355414921EIF2B5,EIF4G1c.3553A>C (p.Ser1185Arg)
c.3487A>C (p.Ser1163Arg)
c.2900A>C (n.2900A>C)
c.2956A>C (p.Ser986Arg)
c.3556A>C (p.Ser1186Arg)
c.3061A>C (p.Ser1021Arg)
c.3574A>C (p.Ser1192Arg)
c.3292A>C (p.Ser1098Arg)
c.3436A>C (p.Ser1146Arg)
c.3433A>C (p.Ser1145Arg)
c.3295A>C (p.Ser1099Arg)
c.2968A>C (p.Ser990Arg)
c.2965A>C (p.Ser989Arg)
c.3064A>C (p.Ser1022Arg)
c.*2992A>C (n.*2992A>C)
c.2106+182633A>C (n.2106+182633A>C)
n.55A>C
3g.184327340A>GCA355414918EIF2B5,EIF4G1c.3553A>G (p.Ser1185Gly)
c.3487A>G (p.Ser1163Gly)
c.2900A>G (n.2900A>G)
c.2956A>G (p.Ser986Gly)
c.3556A>G (p.Ser1186Gly)
c.3061A>G (p.Ser1021Gly)
c.3574A>G (p.Ser1192Gly)
c.3292A>G (p.Ser1098Gly)
c.3436A>G (p.Ser1146Gly)
c.3433A>G (p.Ser1145Gly)
c.3295A>G (p.Ser1099Gly)
c.2968A>G (p.Ser990Gly)
c.2965A>G (p.Ser989Gly)
c.3064A>G (p.Ser1022Gly)
c.*2992A>G (n.*2992A>G)
c.2106+182633A>G (n.2106+182633A>G)
n.55A>G
 gnomAD v4
3g.184327340A>TCA355414916EIF2B5,EIF4G1c.3553A>T (p.Ser1185Cys)
c.3487A>T (p.Ser1163Cys)
c.2900A>T (n.2900A>T)
c.2956A>T (p.Ser986Cys)
c.3556A>T (p.Ser1186Cys)
c.3061A>T (p.Ser1021Cys)
c.3574A>T (p.Ser1192Cys)
c.3292A>T (p.Ser1098Cys)
c.3436A>T (p.Ser1146Cys)
c.3433A>T (p.Ser1145Cys)
c.3295A>T (p.Ser1099Cys)
c.2968A>T (p.Ser990Cys)
c.2965A>T (p.Ser989Cys)
c.3064A>T (p.Ser1022Cys)
c.*2992A>T (n.*2992A>T)
c.2106+182633A>T (n.2106+182633A>T)
n.55A>T

Number of alleles fetched