Chr Mutation (hg38) CAid Gene Transcript Linkouts
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.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
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
3g.184327341G>ACA88867608EIF2B5,EIF4G1c.3554G>A (p.Ser1185Asn)
c.3488G>A (p.Ser1163Asn)
c.2901G>A (n.2901G>A)
c.2957G>A (p.Ser986Asn)
c.3557G>A (p.Ser1186Asn)
c.3062G>A (p.Ser1021Asn)
c.3575G>A (p.Ser1192Asn)
c.3293G>A (p.Ser1098Asn)
c.3437G>A (p.Ser1146Asn)
c.3434G>A (p.Ser1145Asn)
c.3296G>A (p.Ser1099Asn)
c.2969G>A (p.Ser990Asn)
c.2966G>A (p.Ser989Asn)
c.3065G>A (p.Ser1022Asn)
c.*2993G>A (n.*2993G>A)
c.2106+182634G>A (n.2106+182634G>A)
n.56G>A
 dbSNP
3g.184327341G>CCA355414923EIF2B5,EIF4G1c.3554G>C (p.Ser1185Thr)
c.3488G>C (p.Ser1163Thr)
c.2901G>C (n.2901G>C)
c.2957G>C (p.Ser986Thr)
c.3557G>C (p.Ser1186Thr)
c.3062G>C (p.Ser1021Thr)
c.3575G>C (p.Ser1192Thr)
c.3293G>C (p.Ser1098Thr)
c.3437G>C (p.Ser1146Thr)
c.3434G>C (p.Ser1145Thr)
c.3296G>C (p.Ser1099Thr)
c.2969G>C (p.Ser990Thr)
c.2966G>C (p.Ser989Thr)
c.3065G>C (p.Ser1022Thr)
c.*2993G>C (n.*2993G>C)
c.2106+182634G>C (n.2106+182634G>C)
n.56G>C
3g.184327341G=CA1425958315EIF2B5,EIF4G1c.3554G= (p.Ser1185=)
c.3488G= (p.Ser1163=)
c.2901G= (n.2901G=)
c.2957G= (p.Ser986=)
c.3557G= (p.Ser1186=)
c.3062G= (p.Ser1021=)
c.3575G= (p.Ser1192=)
c.3293G= (p.Ser1098=)
c.3437G= (p.Ser1146=)
c.3434G= (p.Ser1145=)
c.3296G= (p.Ser1099=)
c.2969G= (p.Ser990=)
c.2966G= (p.Ser989=)
c.3065G= (p.Ser1022=)
c.*2993G= (n.*2993G=)
c.2106+182634G= (n.2106+182634G=)
n.56G=
3g.184327341G>TCA355414922EIF2B5,EIF4G1c.3554G>T (p.Ser1185Ile)
c.3488G>T (p.Ser1163Ile)
c.2901G>T (n.2901G>T)
c.2957G>T (p.Ser986Ile)
c.3557G>T (p.Ser1186Ile)
c.3062G>T (p.Ser1021Ile)
c.3575G>T (p.Ser1192Ile)
c.3293G>T (p.Ser1098Ile)
c.3437G>T (p.Ser1146Ile)
c.3434G>T (p.Ser1145Ile)
c.3296G>T (p.Ser1099Ile)
c.2969G>T (p.Ser990Ile)
c.2966G>T (p.Ser989Ile)
c.3065G>T (p.Ser1022Ile)
c.*2993G>T (n.*2993G>T)
c.2106+182634G>T (n.2106+182634G>T)
n.56G>T
3g.184327342C>ACA355414926EIF2B5,EIF4G1c.3555C>A (p.Ser1185Arg)
c.3489C>A (p.Ser1163Arg)
c.2902C>A (n.2902C>A)
c.2958C>A (p.Ser986Arg)
c.3558C>A (p.Ser1186Arg)
c.3063C>A (p.Ser1021Arg)
c.3576C>A (p.Ser1192Arg)
c.3294C>A (p.Ser1098Arg)
c.3438C>A (p.Ser1146Arg)
c.3435C>A (p.Ser1145Arg)
c.3297C>A (p.Ser1099Arg)
c.2970C>A (p.Ser990Arg)
c.2967C>A (p.Ser989Arg)
c.3066C>A (p.Ser1022Arg)
c.*2994C>A (n.*2994C>A)
c.2106+182635C>A (n.2106+182635C>A)
n.57C>A
3g.184327342C>GCA355414928EIF2B5,EIF4G1c.3555C>G (p.Ser1185Arg)
c.3489C>G (p.Ser1163Arg)
c.2902C>G (n.2902C>G)
c.2958C>G (p.Ser986Arg)
c.3558C>G (p.Ser1186Arg)
c.3063C>G (p.Ser1021Arg)
c.3576C>G (p.Ser1192Arg)
c.3294C>G (p.Ser1098Arg)
c.3438C>G (p.Ser1146Arg)
c.3435C>G (p.Ser1145Arg)
c.3297C>G (p.Ser1099Arg)
c.2970C>G (p.Ser990Arg)
c.2967C>G (p.Ser989Arg)
c.3066C>G (p.Ser1022Arg)
c.*2994C>G (n.*2994C>G)
c.2106+182635C>G (n.2106+182635C>G)
n.57C>G
3g.184327342C>TCA437330553EIF2B5,EIF4G1c.3555C>T (p.Ser1185=)
c.3489C>T (p.Ser1163=)
c.2902C>T (n.2902C>T)
c.2958C>T (p.Ser986=)
c.3558C>T (p.Ser1186=)
c.3063C>T (p.Ser1021=)
c.3576C>T (p.Ser1192=)
c.3294C>T (p.Ser1098=)
c.3438C>T (p.Ser1146=)
c.3435C>T (p.Ser1145=)
c.3297C>T (p.Ser1099=)
c.2970C>T (p.Ser990=)
c.2967C>T (p.Ser989=)
c.3066C>T (p.Ser1022=)
c.*2994C>T (n.*2994C>T)
c.2106+182635C>T (n.2106+182635C>T)
n.57C>T
3g.184327343T>ACA355414933EIF2B5,EIF4G1c.3556T>A (p.Phe1186Ile)
c.3490T>A (p.Phe1164Ile)
c.2903T>A (n.2903T>A)
c.2959T>A (p.Phe987Ile)
c.3559T>A (p.Phe1187Ile)
c.3064T>A (p.Phe1022Ile)
c.3577T>A (p.Phe1193Ile)
c.3295T>A (p.Phe1099Ile)
c.3439T>A (p.Phe1147Ile)
c.3436T>A (p.Phe1146Ile)
c.3298T>A (p.Phe1100Ile)
c.2971T>A (p.Phe991Ile)
c.2968T>A (p.Phe990Ile)
c.3067T>A (p.Phe1023Ile)
c.*2995T>A (n.*2995T>A)
c.2106+182636T>A (n.2106+182636T>A)
n.58T>A
3g.184327343T>CCA355414936EIF2B5,EIF4G1c.3556T>C (p.Phe1186Leu)
c.3490T>C (p.Phe1164Leu)
c.2903T>C (n.2903T>C)
c.2959T>C (p.Phe987Leu)
c.3559T>C (p.Phe1187Leu)
c.3064T>C (p.Phe1022Leu)
c.3577T>C (p.Phe1193Leu)
c.3295T>C (p.Phe1099Leu)
c.3439T>C (p.Phe1147Leu)
c.3436T>C (p.Phe1146Leu)
c.3298T>C (p.Phe1100Leu)
c.2971T>C (p.Phe991Leu)
c.2968T>C (p.Phe990Leu)
c.3067T>C (p.Phe1023Leu)
c.*2995T>C (n.*2995T>C)
c.2106+182636T>C (n.2106+182636T>C)
n.58T>C
3g.184327343T>GCA355414939EIF2B5,EIF4G1c.3556T>G (p.Phe1186Val)
c.3490T>G (p.Phe1164Val)
c.2903T>G (n.2903T>G)
c.2959T>G (p.Phe987Val)
c.3559T>G (p.Phe1187Val)
c.3064T>G (p.Phe1022Val)
c.3577T>G (p.Phe1193Val)
c.3295T>G (p.Phe1099Val)
c.3439T>G (p.Phe1147Val)
c.3436T>G (p.Phe1146Val)
c.3298T>G (p.Phe1100Val)
c.2971T>G (p.Phe991Val)
c.2968T>G (p.Phe990Val)
c.3067T>G (p.Phe1023Val)
c.*2995T>G (n.*2995T>G)
c.2106+182636T>G (n.2106+182636T>G)
n.58T>G
3g.184327344T>ACA355414940EIF2B5,EIF4G1c.3557T>A (p.Phe1186Tyr)
c.3491T>A (p.Phe1164Tyr)
c.2904T>A (n.2904T>A)
c.2960T>A (p.Phe987Tyr)
c.3560T>A (p.Phe1187Tyr)
c.3065T>A (p.Phe1022Tyr)
c.3578T>A (p.Phe1193Tyr)
c.3296T>A (p.Phe1099Tyr)
c.3440T>A (p.Phe1147Tyr)
c.3437T>A (p.Phe1146Tyr)
c.3299T>A (p.Phe1100Tyr)
c.2972T>A (p.Phe991Tyr)
c.2969T>A (p.Phe990Tyr)
c.3068T>A (p.Phe1023Tyr)
c.*2996T>A (n.*2996T>A)
c.2106+182637T>A (n.2106+182637T>A)
n.59T>A
3g.184327344T>CCA355414941EIF2B5,EIF4G1c.3557T>C (p.Phe1186Ser)
c.3491T>C (p.Phe1164Ser)
c.2904T>C (n.2904T>C)
c.2960T>C (p.Phe987Ser)
c.3560T>C (p.Phe1187Ser)
c.3065T>C (p.Phe1022Ser)
c.3578T>C (p.Phe1193Ser)
c.3296T>C (p.Phe1099Ser)
c.3440T>C (p.Phe1147Ser)
c.3437T>C (p.Phe1146Ser)
c.3299T>C (p.Phe1100Ser)
c.2972T>C (p.Phe991Ser)
c.2969T>C (p.Phe990Ser)
c.3068T>C (p.Phe1023Ser)
c.*2996T>C (n.*2996T>C)
c.2106+182637T>C (n.2106+182637T>C)
n.59T>C
3g.184327344T>GCA355414942EIF2B5,EIF4G1c.3557T>G (p.Phe1186Cys)
c.3491T>G (p.Phe1164Cys)
c.2904T>G (n.2904T>G)
c.2960T>G (p.Phe987Cys)
c.3560T>G (p.Phe1187Cys)
c.3065T>G (p.Phe1022Cys)
c.3578T>G (p.Phe1193Cys)
c.3296T>G (p.Phe1099Cys)
c.3440T>G (p.Phe1147Cys)
c.3437T>G (p.Phe1146Cys)
c.3299T>G (p.Phe1100Cys)
c.2972T>G (p.Phe991Cys)
c.2969T>G (p.Phe990Cys)
c.3068T>G (p.Phe1023Cys)
c.*2996T>G (n.*2996T>G)
c.2106+182637T>G (n.2106+182637T>G)
n.59T>G
3g.184327345C>ACA355414945EIF2B5,EIF4G1c.3558C>A (p.Phe1186Leu)
c.3492C>A (p.Phe1164Leu)
c.2905C>A (n.2905C>A)
c.2961C>A (p.Phe987Leu)
c.3561C>A (p.Phe1187Leu)
c.3066C>A (p.Phe1022Leu)
c.3579C>A (p.Phe1193Leu)
c.3297C>A (p.Phe1099Leu)
c.3441C>A (p.Phe1147Leu)
c.3438C>A (p.Phe1146Leu)
c.3300C>A (p.Phe1100Leu)
c.2973C>A (p.Phe991Leu)
c.2970C>A (p.Phe990Leu)
c.3069C>A (p.Phe1023Leu)
c.*2997C>A (n.*2997C>A)
c.2106+182638C>A (n.2106+182638C>A)
n.60C>A
3g.184327345C>GCA355414946EIF2B5,EIF4G1c.3558C>G (p.Phe1186Leu)
c.3492C>G (p.Phe1164Leu)
c.2905C>G (n.2905C>G)
c.2961C>G (p.Phe987Leu)
c.3561C>G (p.Phe1187Leu)
c.3066C>G (p.Phe1022Leu)
c.3579C>G (p.Phe1193Leu)
c.3297C>G (p.Phe1099Leu)
c.3441C>G (p.Phe1147Leu)
c.3438C>G (p.Phe1146Leu)
c.3300C>G (p.Phe1100Leu)
c.2973C>G (p.Phe991Leu)
c.2970C>G (p.Phe990Leu)
c.3069C>G (p.Phe1023Leu)
c.*2997C>G (n.*2997C>G)
c.2106+182638C>G (n.2106+182638C>G)
n.60C>G
3g.184327345C>TCA437330557EIF2B5,EIF4G1c.3558C>T (p.Phe1186=)
c.3492C>T (p.Phe1164=)
c.2905C>T (n.2905C>T)
c.2961C>T (p.Phe987=)
c.3561C>T (p.Phe1187=)
c.3066C>T (p.Phe1022=)
c.3579C>T (p.Phe1193=)
c.3297C>T (p.Phe1099=)
c.3441C>T (p.Phe1147=)
c.3438C>T (p.Phe1146=)
c.3300C>T (p.Phe1100=)
c.2973C>T (p.Phe991=)
c.2970C>T (p.Phe990=)
c.3069C>T (p.Phe1023=)
c.*2997C>T (n.*2997C>T)
c.2106+182638C>T (n.2106+182638C>T)
n.60C>T
3g.184327346A>CCA355414951EIF2B5,EIF4G1c.3559A>C (p.Ser1187Arg)
c.3493A>C (p.Ser1165Arg)
c.2906A>C (n.2906A>C)
c.2962A>C (p.Ser988Arg)
c.3562A>C (p.Ser1188Arg)
c.3067A>C (p.Ser1023Arg)
c.3580A>C (p.Ser1194Arg)
c.3298A>C (p.Ser1100Arg)
c.3442A>C (p.Ser1148Arg)
c.3439A>C (p.Ser1147Arg)
c.3301A>C (p.Ser1101Arg)
c.2974A>C (p.Ser992Arg)
c.2971A>C (p.Ser991Arg)
c.3070A>C (p.Ser1024Arg)
c.*2998A>C (n.*2998A>C)
c.2106+182639A>C (n.2106+182639A>C)
n.61A>C
3g.184327346A>GCA355414954EIF2B5,EIF4G1c.3559A>G (p.Ser1187Gly)
c.3493A>G (p.Ser1165Gly)
c.2906A>G (n.2906A>G)
c.2962A>G (p.Ser988Gly)
c.3562A>G (p.Ser1188Gly)
c.3067A>G (p.Ser1023Gly)
c.3580A>G (p.Ser1194Gly)
c.3298A>G (p.Ser1100Gly)
c.3442A>G (p.Ser1148Gly)
c.3439A>G (p.Ser1147Gly)
c.3301A>G (p.Ser1101Gly)
c.2974A>G (p.Ser992Gly)
c.2971A>G (p.Ser991Gly)
c.3070A>G (p.Ser1024Gly)
c.*2998A>G (n.*2998A>G)
c.2106+182639A>G (n.2106+182639A>G)
n.61A>G
3g.184327346A>TCA355414957EIF2B5,EIF4G1c.3559A>T (p.Ser1187Cys)
c.3493A>T (p.Ser1165Cys)
c.2906A>T (n.2906A>T)
c.2962A>T (p.Ser988Cys)
c.3562A>T (p.Ser1188Cys)
c.3067A>T (p.Ser1023Cys)
c.3580A>T (p.Ser1194Cys)
c.3298A>T (p.Ser1100Cys)
c.3442A>T (p.Ser1148Cys)
c.3439A>T (p.Ser1147Cys)
c.3301A>T (p.Ser1101Cys)
c.2974A>T (p.Ser992Cys)
c.2971A>T (p.Ser991Cys)
c.3070A>T (p.Ser1024Cys)
c.*2998A>T (n.*2998A>T)
c.2106+182639A>T (n.2106+182639A>T)
n.61A>T
3g.184327347G>ACA355414958EIF2B5,EIF4G1c.3560G>A (p.Ser1187Asn)
c.3494G>A (p.Ser1165Asn)
c.2907G>A (n.2907G>A)
c.2963G>A (p.Ser988Asn)
c.3563G>A (p.Ser1188Asn)
c.3068G>A (p.Ser1023Asn)
c.3581G>A (p.Ser1194Asn)
c.3299G>A (p.Ser1100Asn)
c.3443G>A (p.Ser1148Asn)
c.3440G>A (p.Ser1147Asn)
c.3302G>A (p.Ser1101Asn)
c.2975G>A (p.Ser992Asn)
c.2972G>A (p.Ser991Asn)
c.3071G>A (p.Ser1024Asn)
c.*2999G>A (n.*2999G>A)
c.2106+182640G>A (n.2106+182640G>A)
n.62G>A
 dbSNP gnomAD v2 gnomAD v4
3g.184327347G>CCA355414960EIF2B5,EIF4G1c.3560G>C (p.Ser1187Thr)
c.3494G>C (p.Ser1165Thr)
c.2907G>C (n.2907G>C)
c.2963G>C (p.Ser988Thr)
c.3563G>C (p.Ser1188Thr)
c.3068G>C (p.Ser1023Thr)
c.3581G>C (p.Ser1194Thr)
c.3299G>C (p.Ser1100Thr)
c.3443G>C (p.Ser1148Thr)
c.3440G>C (p.Ser1147Thr)
c.3302G>C (p.Ser1101Thr)
c.2975G>C (p.Ser992Thr)
c.2972G>C (p.Ser991Thr)
c.3071G>C (p.Ser1024Thr)
c.*2999G>C (n.*2999G>C)
c.2106+182640G>C (n.2106+182640G>C)
n.62G>C
3g.184327347G=CA1425958318EIF2B5,EIF4G1c.3560G= (p.Ser1187=)
c.3494G= (p.Ser1165=)
c.2907G= (n.2907G=)
c.2963G= (p.Ser988=)
c.3563G= (p.Ser1188=)
c.3068G= (p.Ser1023=)
c.3581G= (p.Ser1194=)
c.3299G= (p.Ser1100=)
c.3443G= (p.Ser1148=)
c.3440G= (p.Ser1147=)
c.3302G= (p.Ser1101=)
c.2975G= (p.Ser992=)
c.2972G= (p.Ser991=)
c.3071G= (p.Ser1024=)
c.*2999G= (n.*2999G=)
c.2106+182640G= (n.2106+182640G=)
n.62G=
3g.184327347G>TCA355414959EIF2B5,EIF4G1c.3560G>T (p.Ser1187Ile)
c.3494G>T (p.Ser1165Ile)
c.2907G>T (n.2907G>T)
c.2963G>T (p.Ser988Ile)
c.3563G>T (p.Ser1188Ile)
c.3068G>T (p.Ser1023Ile)
c.3581G>T (p.Ser1194Ile)
c.3299G>T (p.Ser1100Ile)
c.3443G>T (p.Ser1148Ile)
c.3440G>T (p.Ser1147Ile)
c.3302G>T (p.Ser1101Ile)
c.2975G>T (p.Ser992Ile)
c.2972G>T (p.Ser991Ile)
c.3071G>T (p.Ser1024Ile)
c.*2999G>T (n.*2999G>T)
c.2106+182640G>T (n.2106+182640G>T)
n.62G>T
 dbSNP gnomAD v4
3g.184327348C>ACA355414963EIF2B5,EIF4G1c.3561C>A (p.Ser1187Arg)
c.3495C>A (p.Ser1165Arg)
c.2908C>A (n.2908C>A)
c.2964C>A (p.Ser988Arg)
c.3564C>A (p.Ser1188Arg)
c.3069C>A (p.Ser1023Arg)
c.3582C>A (p.Ser1194Arg)
c.3300C>A (p.Ser1100Arg)
c.3444C>A (p.Ser1148Arg)
c.3441C>A (p.Ser1147Arg)
c.3303C>A (p.Ser1101Arg)
c.2976C>A (p.Ser992Arg)
c.2973C>A (p.Ser991Arg)
c.3072C>A (p.Ser1024Arg)
c.*3000C>A (n.*3000C>A)
c.2106+182641C>A (n.2106+182641C>A)
n.63C>A
3g.184327348C>GCA355414966EIF2B5,EIF4G1c.3561C>G (p.Ser1187Arg)
c.3495C>G (p.Ser1165Arg)
c.2908C>G (n.2908C>G)
c.2964C>G (p.Ser988Arg)
c.3564C>G (p.Ser1188Arg)
c.3069C>G (p.Ser1023Arg)
c.3582C>G (p.Ser1194Arg)
c.3300C>G (p.Ser1100Arg)
c.3444C>G (p.Ser1148Arg)
c.3441C>G (p.Ser1147Arg)
c.3303C>G (p.Ser1101Arg)
c.2976C>G (p.Ser992Arg)
c.2973C>G (p.Ser991Arg)
c.3072C>G (p.Ser1024Arg)
c.*3000C>G (n.*3000C>G)
c.2106+182641C>G (n.2106+182641C>G)
n.63C>G
3g.184327348C>TCA437330561EIF2B5,EIF4G1c.3561C>T (p.Ser1187=)
c.3495C>T (p.Ser1165=)
c.2908C>T (n.2908C>T)
c.2964C>T (p.Ser988=)
c.3564C>T (p.Ser1188=)
c.3069C>T (p.Ser1023=)
c.3582C>T (p.Ser1194=)
c.3300C>T (p.Ser1100=)
c.3444C>T (p.Ser1148=)
c.3441C>T (p.Ser1147=)
c.3303C>T (p.Ser1101=)
c.2976C>T (p.Ser992=)
c.2973C>T (p.Ser991=)
c.3072C>T (p.Ser1024=)
c.*3000C>T (n.*3000C>T)
c.2106+182641C>T (n.2106+182641C>T)
n.63C>T
3g.184327349A>CCA355414968EIF2B5,EIF4G1c.3562A>C (p.Lys1188Gln)
c.3496A>C (p.Lys1166Gln)
c.2909A>C (n.2909A>C)
c.2965A>C (p.Lys989Gln)
c.3565A>C (p.Lys1189Gln)
c.3070A>C (p.Lys1024Gln)
c.3583A>C (p.Lys1195Gln)
c.3301A>C (p.Lys1101Gln)
c.3445A>C (p.Lys1149Gln)
c.3442A>C (p.Lys1148Gln)
c.3304A>C (p.Lys1102Gln)
c.2977A>C (p.Lys993Gln)
c.2974A>C (p.Lys992Gln)
c.3073A>C (p.Lys1025Gln)
c.*3001A>C (n.*3001A>C)
c.2106+182642A>C (n.2106+182642A>C)
n.64A>C
3g.184327349A>GCA355414969EIF2B5,EIF4G1c.3562A>G (p.Lys1188Glu)
c.3496A>G (p.Lys1166Glu)
c.2909A>G (n.2909A>G)
c.2965A>G (p.Lys989Glu)
c.3565A>G (p.Lys1189Glu)
c.3070A>G (p.Lys1024Glu)
c.3583A>G (p.Lys1195Glu)
c.3301A>G (p.Lys1101Glu)
c.3445A>G (p.Lys1149Glu)
c.3442A>G (p.Lys1148Glu)
c.3304A>G (p.Lys1102Glu)
c.2977A>G (p.Lys993Glu)
c.2974A>G (p.Lys992Glu)
c.3073A>G (p.Lys1025Glu)
c.*3001A>G (n.*3001A>G)
c.2106+182642A>G (n.2106+182642A>G)
n.64A>G
3g.184327349A>TCA355414970EIF2B5,EIF4G1c.3562A>T (p.Lys1188Ter)
c.3496A>T (p.Lys1166Ter)
c.2909A>T (n.2909A>T)
c.2965A>T (p.Lys989Ter)
c.3565A>T (p.Lys1189Ter)
c.3070A>T (p.Lys1024Ter)
c.3583A>T (p.Lys1195Ter)
c.3301A>T (p.Lys1101Ter)
c.3445A>T (p.Lys1149Ter)
c.3442A>T (p.Lys1148Ter)
c.3304A>T (p.Lys1102Ter)
c.2977A>T (p.Lys993Ter)
c.2974A>T (p.Lys992Ter)
c.3073A>T (p.Lys1025Ter)
c.*3001A>T (n.*3001A>T)
c.2106+182642A>T (n.2106+182642A>T)
n.64A>T
3g.184327350A>CCA355414973EIF2B5,EIF4G1c.3563A>C (p.Lys1188Thr)
c.3497A>C (p.Lys1166Thr)
c.2910A>C (n.2910A>C)
c.2966A>C (p.Lys989Thr)
c.3566A>C (p.Lys1189Thr)
c.3071A>C (p.Lys1024Thr)
c.3584A>C (p.Lys1195Thr)
c.3302A>C (p.Lys1101Thr)
c.3446A>C (p.Lys1149Thr)
c.3443A>C (p.Lys1148Thr)
c.3305A>C (p.Lys1102Thr)
c.2978A>C (p.Lys993Thr)
c.2975A>C (p.Lys992Thr)
c.3074A>C (p.Lys1025Thr)
c.*3002A>C (n.*3002A>C)
c.2106+182643A>C (n.2106+182643A>C)
n.65A>C
3g.184327350A>GCA355414975EIF2B5,EIF4G1c.3563A>G (p.Lys1188Arg)
c.3497A>G (p.Lys1166Arg)
c.2910A>G (n.2910A>G)
c.2966A>G (p.Lys989Arg)
c.3566A>G (p.Lys1189Arg)
c.3071A>G (p.Lys1024Arg)
c.3584A>G (p.Lys1195Arg)
c.3302A>G (p.Lys1101Arg)
c.3446A>G (p.Lys1149Arg)
c.3443A>G (p.Lys1148Arg)
c.3305A>G (p.Lys1102Arg)
c.2978A>G (p.Lys993Arg)
c.2975A>G (p.Lys992Arg)
c.3074A>G (p.Lys1025Arg)
c.*3002A>G (n.*3002A>G)
c.2106+182643A>G (n.2106+182643A>G)
n.65A>G
3g.184327350A>TCA355414976EIF2B5,EIF4G1c.3563A>T (p.Lys1188Met)
c.3497A>T (p.Lys1166Met)
c.2910A>T (n.2910A>T)
c.2966A>T (p.Lys989Met)
c.3566A>T (p.Lys1189Met)
c.3071A>T (p.Lys1024Met)
c.3584A>T (p.Lys1195Met)
c.3302A>T (p.Lys1101Met)
c.3446A>T (p.Lys1149Met)
c.3443A>T (p.Lys1148Met)
c.3305A>T (p.Lys1102Met)
c.2978A>T (p.Lys993Met)
c.2975A>T (p.Lys992Met)
c.3074A>T (p.Lys1025Met)
c.*3002A>T (n.*3002A>T)
c.2106+182643A>T (n.2106+182643A>T)
n.65A>T
3g.184327351G>ACA437330565EIF2B5,EIF4G1c.3564G>A (p.Lys1188=)
c.3498G>A (p.Lys1166=)
c.2911G>A (n.2911G>A)
c.2967G>A (p.Lys989=)
c.3567G>A (p.Lys1189=)
c.3072G>A (p.Lys1024=)
c.3585G>A (p.Lys1195=)
c.3303G>A (p.Lys1101=)
c.3447G>A (p.Lys1149=)
c.3444G>A (p.Lys1148=)
c.3306G>A (p.Lys1102=)
c.2979G>A (p.Lys993=)
c.2976G>A (p.Lys992=)
c.3075G>A (p.Lys1025=)
c.*3003G>A (n.*3003G>A)
c.2106+182644G>A (n.2106+182644G>A)
n.66G>A
3g.184327351G>CCA355414977EIF2B5,EIF4G1c.3564G>C (p.Lys1188Asn)
c.3498G>C (p.Lys1166Asn)
c.2911G>C (n.2911G>C)
c.2967G>C (p.Lys989Asn)
c.3567G>C (p.Lys1189Asn)
c.3072G>C (p.Lys1024Asn)
c.3585G>C (p.Lys1195Asn)
c.3303G>C (p.Lys1101Asn)
c.3447G>C (p.Lys1149Asn)
c.3444G>C (p.Lys1148Asn)
c.3306G>C (p.Lys1102Asn)
c.2979G>C (p.Lys993Asn)
c.2976G>C (p.Lys992Asn)
c.3075G>C (p.Lys1025Asn)
c.*3003G>C (n.*3003G>C)
c.2106+182644G>C (n.2106+182644G>C)
n.66G>C
3g.184327351G>TCA355414978EIF2B5,EIF4G1c.3564G>T (p.Lys1188Asn)
c.3498G>T (p.Lys1166Asn)
c.2911G>T (n.2911G>T)
c.2967G>T (p.Lys989Asn)
c.3567G>T (p.Lys1189Asn)
c.3072G>T (p.Lys1024Asn)
c.3585G>T (p.Lys1195Asn)
c.3303G>T (p.Lys1101Asn)
c.3447G>T (p.Lys1149Asn)
c.3444G>T (p.Lys1148Asn)
c.3306G>T (p.Lys1102Asn)
c.2979G>T (p.Lys993Asn)
c.2976G>T (p.Lys992Asn)
c.3075G>T (p.Lys1025Asn)
c.*3003G>T (n.*3003G>T)
c.2106+182644G>T (n.2106+182644G>T)
n.66G>T
3g.184327352G>ACA355414990EIF2B5,EIF4G1c.3565G>A (p.Glu1189Lys)
c.3499G>A (p.Glu1167Lys)
c.2912G>A (n.2912G>A)
c.2968G>A (p.Glu990Lys)
c.3568G>A (p.Glu1190Lys)
c.3073G>A (p.Glu1025Lys)
c.3586G>A (p.Glu1196Lys)
c.3304G>A (p.Glu1102Lys)
c.3448G>A (p.Glu1150Lys)
c.3445G>A (p.Glu1149Lys)
c.3307G>A (p.Glu1103Lys)
c.2980G>A (p.Glu994Lys)
c.2977G>A (p.Glu993Lys)
c.3076G>A (p.Glu1026Lys)
c.*3004G>A (n.*3004G>A)
c.2106+182645G>A (n.2106+182645G>A)
n.67G>A
3g.184327352G>CCA355414988EIF2B5,EIF4G1c.3565G>C (p.Glu1189Gln)
c.3499G>C (p.Glu1167Gln)
c.2912G>C (n.2912G>C)
c.2968G>C (p.Glu990Gln)
c.3568G>C (p.Glu1190Gln)
c.3073G>C (p.Glu1025Gln)
c.3586G>C (p.Glu1196Gln)
c.3304G>C (p.Glu1102Gln)
c.3448G>C (p.Glu1150Gln)
c.3445G>C (p.Glu1149Gln)
c.3307G>C (p.Glu1103Gln)
c.2980G>C (p.Glu994Gln)
c.2977G>C (p.Glu993Gln)
c.3076G>C (p.Glu1026Gln)
c.*3004G>C (n.*3004G>C)
c.2106+182645G>C (n.2106+182645G>C)
n.67G>C
3g.184327352G>TCA355414980EIF2B5,EIF4G1c.3565G>T (p.Glu1189Ter)
c.3499G>T (p.Glu1167Ter)
c.2912G>T (n.2912G>T)
c.2968G>T (p.Glu990Ter)
c.3568G>T (p.Glu1190Ter)
c.3073G>T (p.Glu1025Ter)
c.3586G>T (p.Glu1196Ter)
c.3304G>T (p.Glu1102Ter)
c.3448G>T (p.Glu1150Ter)
c.3445G>T (p.Glu1149Ter)
c.3307G>T (p.Glu1103Ter)
c.2980G>T (p.Glu994Ter)
c.2977G>T (p.Glu993Ter)
c.3076G>T (p.Glu1026Ter)
c.*3004G>T (n.*3004G>T)
c.2106+182645G>T (n.2106+182645G>T)
n.67G>T
3g.184327353A>CCA355415000EIF2B5,EIF4G1c.3566A>C (p.Glu1189Ala)
c.3500A>C (p.Glu1167Ala)
c.2913A>C (n.2913A>C)
c.2969A>C (p.Glu990Ala)
c.3569A>C (p.Glu1190Ala)
c.3074A>C (p.Glu1025Ala)
c.3587A>C (p.Glu1196Ala)
c.3305A>C (p.Glu1102Ala)
c.3449A>C (p.Glu1150Ala)
c.3446A>C (p.Glu1149Ala)
c.3308A>C (p.Glu1103Ala)
c.2981A>C (p.Glu994Ala)
c.2978A>C (p.Glu993Ala)
c.3077A>C (p.Glu1026Ala)
c.*3005A>C (n.*3005A>C)
c.2106+182646A>C (n.2106+182646A>C)
n.68A>C
3g.184327353A>GCA355414995EIF2B5,EIF4G1c.3566A>G (p.Glu1189Gly)
c.3500A>G (p.Glu1167Gly)
c.2913A>G (n.2913A>G)
c.2969A>G (p.Glu990Gly)
c.3569A>G (p.Glu1190Gly)
c.3074A>G (p.Glu1025Gly)
c.3587A>G (p.Glu1196Gly)
c.3305A>G (p.Glu1102Gly)
c.3449A>G (p.Glu1150Gly)
c.3446A>G (p.Glu1149Gly)
c.3308A>G (p.Glu1103Gly)
c.2981A>G (p.Glu994Gly)
c.2978A>G (p.Glu993Gly)
c.3077A>G (p.Glu1026Gly)
c.*3005A>G (n.*3005A>G)
c.2106+182646A>G (n.2106+182646A>G)
n.68A>G
3g.184327353A>TCA355414997EIF2B5,EIF4G1c.3566A>T (p.Glu1189Val)
c.3500A>T (p.Glu1167Val)
c.2913A>T (n.2913A>T)
c.2969A>T (p.Glu990Val)
c.3569A>T (p.Glu1190Val)
c.3074A>T (p.Glu1025Val)
c.3587A>T (p.Glu1196Val)
c.3305A>T (p.Glu1102Val)
c.3449A>T (p.Glu1150Val)
c.3446A>T (p.Glu1149Val)
c.3308A>T (p.Glu1103Val)
c.2981A>T (p.Glu994Val)
c.2978A>T (p.Glu993Val)
c.3077A>T (p.Glu1026Val)
c.*3005A>T (n.*3005A>T)
c.2106+182646A>T (n.2106+182646A>T)
n.68A>T
3g.184327354A=CA1425958320EIF2B5,EIF4G1c.3567A= (p.Glu1189=)
c.3501A= (p.Glu1167=)
c.2914A= (n.2914A=)
c.2970A= (p.Glu990=)
c.3570A= (p.Glu1190=)
c.3075A= (p.Glu1025=)
c.3588A= (p.Glu1196=)
c.3306A= (p.Glu1102=)
c.3450A= (p.Glu1150=)
c.3447A= (p.Glu1149=)
c.3309A= (p.Glu1103=)
c.2982A= (p.Glu994=)
c.2979A= (p.Glu993=)
c.3078A= (p.Glu1026=)
c.*3006A= (n.*3006A=)
c.2106+182647A= (n.2106+182647A=)
n.69A=
3g.184327354A>CCA355415002EIF2B5,EIF4G1c.3567A>C (p.Glu1189Asp)
c.3501A>C (p.Glu1167Asp)
c.2914A>C (n.2914A>C)
c.2970A>C (p.Glu990Asp)
c.3570A>C (p.Glu1190Asp)
c.3075A>C (p.Glu1025Asp)
c.3588A>C (p.Glu1196Asp)
c.3306A>C (p.Glu1102Asp)
c.3450A>C (p.Glu1150Asp)
c.3447A>C (p.Glu1149Asp)
c.3309A>C (p.Glu1103Asp)
c.2982A>C (p.Glu994Asp)
c.2979A>C (p.Glu993Asp)
c.3078A>C (p.Glu1026Asp)
c.*3006A>C (n.*3006A>C)
c.2106+182647A>C (n.2106+182647A>C)
n.69A>C
3g.184327354A>GCA2732847EIF2B5,EIF4G1c.3567A>G (p.Glu1189=)
c.3501A>G (p.Glu1167=)
c.2914A>G (n.2914A>G)
c.2970A>G (p.Glu990=)
c.3570A>G (p.Glu1190=)
c.3075A>G (p.Glu1025=)
c.3588A>G (p.Glu1196=)
c.3306A>G (p.Glu1102=)
c.3450A>G (p.Glu1150=)
c.3447A>G (p.Glu1149=)
c.3309A>G (p.Glu1103=)
c.2982A>G (p.Glu994=)
c.2979A>G (p.Glu993=)
c.3078A>G (p.Glu1026=)
c.*3006A>G (n.*3006A>G)
c.2106+182647A>G (n.2106+182647A>G)
n.69A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.184327354A>TCA355415006EIF2B5,EIF4G1c.3567A>T (p.Glu1189Asp)
c.3501A>T (p.Glu1167Asp)
c.2914A>T (n.2914A>T)
c.2970A>T (p.Glu990Asp)
c.3570A>T (p.Glu1190Asp)
c.3075A>T (p.Glu1025Asp)
c.3588A>T (p.Glu1196Asp)
c.3306A>T (p.Glu1102Asp)
c.3450A>T (p.Glu1150Asp)
c.3447A>T (p.Glu1149Asp)
c.3309A>T (p.Glu1103Asp)
c.2982A>T (p.Glu994Asp)
c.2979A>T (p.Glu993Asp)
c.3078A>T (p.Glu1026Asp)
c.*3006A>T (n.*3006A>T)
c.2106+182647A>T (n.2106+182647A>T)
n.69A>T
3g.184327355G>ACA355415011EIF2B5,EIF4G1c.3568G>A (p.Val1190Met)
c.3502G>A (p.Val1168Met)
c.2915G>A (n.2915G>A)
c.2971G>A (p.Val991Met)
c.3571G>A (p.Val1191Met)
c.3076G>A (p.Val1026Met)
c.3589G>A (p.Val1197Met)
c.3307G>A (p.Val1103Met)
c.3451G>A (p.Val1151Met)
c.3448G>A (p.Val1150Met)
c.3310G>A (p.Val1104Met)
c.2983G>A (p.Val995Met)
c.2980G>A (p.Val994Met)
c.3079G>A (p.Val1027Met)
c.*3007G>A (n.*3007G>A)
c.2106+182648G>A (n.2106+182648G>A)
n.70G>A
3g.184327355G>CCA355415009EIF2B5,EIF4G1c.3568G>C (p.Val1190Leu)
c.3502G>C (p.Val1168Leu)
c.2915G>C (n.2915G>C)
c.2971G>C (p.Val991Leu)
c.3571G>C (p.Val1191Leu)
c.3076G>C (p.Val1026Leu)
c.3589G>C (p.Val1197Leu)
c.3307G>C (p.Val1103Leu)
c.3451G>C (p.Val1151Leu)
c.3448G>C (p.Val1150Leu)
c.3310G>C (p.Val1104Leu)
c.2983G>C (p.Val995Leu)
c.2980G>C (p.Val994Leu)
c.3079G>C (p.Val1027Leu)
c.*3007G>C (n.*3007G>C)
c.2106+182648G>C (n.2106+182648G>C)
n.70G>C
3g.184327355G=CA1425958322EIF2B5,EIF4G1c.3568G= (p.Val1190=)
c.3502G= (p.Val1168=)
c.2915G= (n.2915G=)
c.2971G= (p.Val991=)
c.3571G= (p.Val1191=)
c.3076G= (p.Val1026=)
c.3589G= (p.Val1197=)
c.3307G= (p.Val1103=)
c.3451G= (p.Val1151=)
c.3448G= (p.Val1150=)
c.3310G= (p.Val1104=)
c.2983G= (p.Val995=)
c.2980G= (p.Val994=)
c.3079G= (p.Val1027=)
c.*3007G= (n.*3007G=)
c.2106+182648G= (n.2106+182648G=)
n.70G=
3g.184327355G>TCA355415008EIF2B5,EIF4G1c.3568G>T (p.Val1190Leu)
c.3502G>T (p.Val1168Leu)
c.2915G>T (n.2915G>T)
c.2971G>T (p.Val991Leu)
c.3571G>T (p.Val1191Leu)
c.3076G>T (p.Val1026Leu)
c.3589G>T (p.Val1197Leu)
c.3307G>T (p.Val1103Leu)
c.3451G>T (p.Val1151Leu)
c.3448G>T (p.Val1150Leu)
c.3310G>T (p.Val1104Leu)
c.2983G>T (p.Val995Leu)
c.2980G>T (p.Val994Leu)
c.3079G>T (p.Val1027Leu)
c.*3007G>T (n.*3007G>T)
c.2106+182648G>T (n.2106+182648G>T)
n.70G>T
 dbSNP gnomAD v2 gnomAD v4
3g.184327356T>ACA355415013EIF2B5,EIF4G1c.3569T>A (p.Val1190Glu)
c.3503T>A (p.Val1168Glu)
c.2916T>A (n.2916T>A)
c.2972T>A (p.Val991Glu)
c.3572T>A (p.Val1191Glu)
c.3077T>A (p.Val1026Glu)
c.3590T>A (p.Val1197Glu)
c.3308T>A (p.Val1103Glu)
c.3452T>A (p.Val1151Glu)
c.3449T>A (p.Val1150Glu)
c.3311T>A (p.Val1104Glu)
c.2984T>A (p.Val995Glu)
c.2981T>A (p.Val994Glu)
c.3080T>A (p.Val1027Glu)
c.*3008T>A (n.*3008T>A)
c.2106+182649T>A (n.2106+182649T>A)
n.71T>A
 gnomAD v4
3g.184327356T>CCA355415015EIF2B5,EIF4G1c.3569T>C (p.Val1190Ala)
c.3503T>C (p.Val1168Ala)
c.2916T>C (n.2916T>C)
c.2972T>C (p.Val991Ala)
c.3572T>C (p.Val1191Ala)
c.3077T>C (p.Val1026Ala)
c.3590T>C (p.Val1197Ala)
c.3308T>C (p.Val1103Ala)
c.3452T>C (p.Val1151Ala)
c.3449T>C (p.Val1150Ala)
c.3311T>C (p.Val1104Ala)
c.2984T>C (p.Val995Ala)
c.2981T>C (p.Val994Ala)
c.3080T>C (p.Val1027Ala)
c.*3008T>C (n.*3008T>C)
c.2106+182649T>C (n.2106+182649T>C)
n.71T>C
 dbSNP
3g.184327356T>GCA355415017EIF2B5,EIF4G1c.3569T>G (p.Val1190Gly)
c.3503T>G (p.Val1168Gly)
c.2916T>G (n.2916T>G)
c.2972T>G (p.Val991Gly)
c.3572T>G (p.Val1191Gly)
c.3077T>G (p.Val1026Gly)
c.3590T>G (p.Val1197Gly)
c.3308T>G (p.Val1103Gly)
c.3452T>G (p.Val1151Gly)
c.3449T>G (p.Val1150Gly)
c.3311T>G (p.Val1104Gly)
c.2984T>G (p.Val995Gly)
c.2981T>G (p.Val994Gly)
c.3080T>G (p.Val1027Gly)
c.*3008T>G (n.*3008T>G)
c.2106+182649T>G (n.2106+182649T>G)
n.71T>G
3g.184327356T=CA1425958326EIF2B5,EIF4G1c.3569T= (p.Val1190=)
c.3503T= (p.Val1168=)
c.2916T= (n.2916T=)
c.2972T= (p.Val991=)
c.3572T= (p.Val1191=)
c.3077T= (p.Val1026=)
c.3590T= (p.Val1197=)
c.3308T= (p.Val1103=)
c.3452T= (p.Val1151=)
c.3449T= (p.Val1150=)
c.3311T= (p.Val1104=)
c.2984T= (p.Val995=)
c.2981T= (p.Val994=)
c.3080T= (p.Val1027=)
c.*3008T= (n.*3008T=)
c.2106+182649T= (n.2106+182649T=)
n.71T=
3g.184327357G>ACA88867611EIF2B5,EIF4G1c.3570G>A (p.Val1190=)
c.3504G>A (p.Val1168=)
c.2917G>A (n.2917G>A)
c.2973G>A (p.Val991=)
c.3573G>A (p.Val1191=)
c.3078G>A (p.Val1026=)
c.3591G>A (p.Val1197=)
c.3309G>A (p.Val1103=)
c.3453G>A (p.Val1151=)
c.3450G>A (p.Val1150=)
c.3312G>A (p.Val1104=)
c.2985G>A (p.Val995=)
c.2982G>A (p.Val994=)
c.3081G>A (p.Val1027=)
c.*3009G>A (n.*3009G>A)
c.2106+182650G>A (n.2106+182650G>A)
n.72G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.184327357G>CCA437330569EIF2B5,EIF4G1c.3570G>C (p.Val1190=)
c.3504G>C (p.Val1168=)
c.2917G>C (n.2917G>C)
c.2973G>C (p.Val991=)
c.3573G>C (p.Val1191=)
c.3078G>C (p.Val1026=)
c.3591G>C (p.Val1197=)
c.3309G>C (p.Val1103=)
c.3453G>C (p.Val1151=)
c.3450G>C (p.Val1150=)
c.3312G>C (p.Val1104=)
c.2985G>C (p.Val995=)
c.2982G>C (p.Val994=)
c.3081G>C (p.Val1027=)
c.*3009G>C (n.*3009G>C)
c.2106+182650G>C (n.2106+182650G>C)
n.72G>C
3g.184327357G=CA1425958329EIF2B5,EIF4G1c.3570G= (p.Val1190=)
c.3504G= (p.Val1168=)
c.2917G= (n.2917G=)
c.2973G= (p.Val991=)
c.3573G= (p.Val1191=)
c.3078G= (p.Val1026=)
c.3591G= (p.Val1197=)
c.3309G= (p.Val1103=)
c.3453G= (p.Val1151=)
c.3450G= (p.Val1150=)
c.3312G= (p.Val1104=)
c.2985G= (p.Val995=)
c.2982G= (p.Val994=)
c.3081G= (p.Val1027=)
c.*3009G= (n.*3009G=)
c.2106+182650G= (n.2106+182650G=)
n.72G=
3g.184327357G>TCA437330570EIF2B5,EIF4G1c.3570G>T (p.Val1190=)
c.3504G>T (p.Val1168=)
c.2917G>T (n.2917G>T)
c.2973G>T (p.Val991=)
c.3573G>T (p.Val1191=)
c.3078G>T (p.Val1026=)
c.3591G>T (p.Val1197=)
c.3309G>T (p.Val1103=)
c.3453G>T (p.Val1151=)
c.3450G>T (p.Val1150=)
c.3312G>T (p.Val1104=)
c.2985G>T (p.Val995=)
c.2982G>T (p.Val994=)
c.3081G>T (p.Val1027=)
c.*3009G>T (n.*3009G>T)
c.2106+182650G>T (n.2106+182650G>T)
n.72G>T
3g.184327358G>ACA355415021EIF2B5,EIF4G1c.3571G>A (p.Glu1191Lys)
c.3505G>A (p.Glu1169Lys)
c.2918G>A (n.2918G>A)
c.2974G>A (p.Glu992Lys)
c.3574G>A (p.Glu1192Lys)
c.3079G>A (p.Glu1027Lys)
c.3592G>A (p.Glu1198Lys)
c.3310G>A (p.Glu1104Lys)
c.3454G>A (p.Glu1152Lys)
c.3451G>A (p.Glu1151Lys)
c.3313G>A (p.Glu1105Lys)
c.2986G>A (p.Glu996Lys)
c.2983G>A (p.Glu995Lys)
c.3082G>A (p.Glu1028Lys)
c.*3010G>A (n.*3010G>A)
c.2106+182651G>A (n.2106+182651G>A)
n.73G>A
3g.184327358G>CCA355415023EIF2B5,EIF4G1c.3571G>C (p.Glu1191Gln)
c.3505G>C (p.Glu1169Gln)
c.2918G>C (n.2918G>C)
c.2974G>C (p.Glu992Gln)
c.3574G>C (p.Glu1192Gln)
c.3079G>C (p.Glu1027Gln)
c.3592G>C (p.Glu1198Gln)
c.3310G>C (p.Glu1104Gln)
c.3454G>C (p.Glu1152Gln)
c.3451G>C (p.Glu1151Gln)
c.3313G>C (p.Glu1105Gln)
c.2986G>C (p.Glu996Gln)
c.2983G>C (p.Glu995Gln)
c.3082G>C (p.Glu1028Gln)
c.*3010G>C (n.*3010G>C)
c.2106+182651G>C (n.2106+182651G>C)
n.73G>C
3g.184327358G>TCA355415025EIF2B5,EIF4G1c.3571G>T (p.Glu1191Ter)
c.3505G>T (p.Glu1169Ter)
c.2918G>T (n.2918G>T)
c.2974G>T (p.Glu992Ter)
c.3574G>T (p.Glu1192Ter)
c.3079G>T (p.Glu1027Ter)
c.3592G>T (p.Glu1198Ter)
c.3310G>T (p.Glu1104Ter)
c.3454G>T (p.Glu1152Ter)
c.3451G>T (p.Glu1151Ter)
c.3313G>T (p.Glu1105Ter)
c.2986G>T (p.Glu996Ter)
c.2983G>T (p.Glu995Ter)
c.3082G>T (p.Glu1028Ter)
c.*3010G>T (n.*3010G>T)
c.2106+182651G>T (n.2106+182651G>T)
n.73G>T
3g.184327359A=CA1425958331EIF2B5,EIF4G1c.3572A= (p.Glu1191=)
c.3506A= (p.Glu1169=)
c.2919A= (n.2919A=)
c.2975A= (p.Glu992=)
c.3575A= (p.Glu1192=)
c.3080A= (p.Glu1027=)
c.3593A= (p.Glu1198=)
c.3311A= (p.Glu1104=)
c.3455A= (p.Glu1152=)
c.3452A= (p.Glu1151=)
c.3314A= (p.Glu1105=)
c.2987A= (p.Glu996=)
c.2984A= (p.Glu995=)
c.3083A= (p.Glu1028=)
c.*3011A= (n.*3011A=)
c.2106+182652A= (n.2106+182652A=)
n.74A=
3g.184327359A>CCA355415028EIF2B5,EIF4G1c.3572A>C (p.Glu1191Ala)
c.3506A>C (p.Glu1169Ala)
c.2919A>C (n.2919A>C)
c.2975A>C (p.Glu992Ala)
c.3575A>C (p.Glu1192Ala)
c.3080A>C (p.Glu1027Ala)
c.3593A>C (p.Glu1198Ala)
c.3311A>C (p.Glu1104Ala)
c.3455A>C (p.Glu1152Ala)
c.3452A>C (p.Glu1151Ala)
c.3314A>C (p.Glu1105Ala)
c.2987A>C (p.Glu996Ala)
c.2984A>C (p.Glu995Ala)
c.3083A>C (p.Glu1028Ala)
c.*3011A>C (n.*3011A>C)
c.2106+182652A>C (n.2106+182652A>C)
n.74A>C
3g.184327359A>GCA355415031EIF2B5,EIF4G1c.3572A>G (p.Glu1191Gly)
c.3506A>G (p.Glu1169Gly)
c.2919A>G (n.2919A>G)
c.2975A>G (p.Glu992Gly)
c.3575A>G (p.Glu1192Gly)
c.3080A>G (p.Glu1027Gly)
c.3593A>G (p.Glu1198Gly)
c.3311A>G (p.Glu1104Gly)
c.3455A>G (p.Glu1152Gly)
c.3452A>G (p.Glu1151Gly)
c.3314A>G (p.Glu1105Gly)
c.2987A>G (p.Glu996Gly)
c.2984A>G (p.Glu995Gly)
c.3083A>G (p.Glu1028Gly)
c.*3011A>G (n.*3011A>G)
c.2106+182652A>G (n.2106+182652A>G)
n.74A>G
 dbSNP gnomAD v2 gnomAD v4
3g.184327359A>TCA355415029EIF2B5,EIF4G1c.3572A>T (p.Glu1191Val)
c.3506A>T (p.Glu1169Val)
c.2919A>T (n.2919A>T)
c.2975A>T (p.Glu992Val)
c.3575A>T (p.Glu1192Val)
c.3080A>T (p.Glu1027Val)
c.3593A>T (p.Glu1198Val)
c.3311A>T (p.Glu1104Val)
c.3455A>T (p.Glu1152Val)
c.3452A>T (p.Glu1151Val)
c.3314A>T (p.Glu1105Val)
c.2987A>T (p.Glu996Val)
c.2984A>T (p.Glu995Val)
c.3083A>T (p.Glu1028Val)
c.*3011A>T (n.*3011A>T)
c.2106+182652A>T (n.2106+182652A>T)
n.74A>T
 dbSNP
3g.184327360G>ACA437330574EIF2B5,EIF4G1c.3573G>A (p.Glu1191=)
c.3507G>A (p.Glu1169=)
c.2920G>A (n.2920G>A)
c.2976G>A (p.Glu992=)
c.3576G>A (p.Glu1192=)
c.3081G>A (p.Glu1027=)
c.3594G>A (p.Glu1198=)
c.3312G>A (p.Glu1104=)
c.3456G>A (p.Glu1152=)
c.3453G>A (p.Glu1151=)
c.3315G>A (p.Glu1105=)
c.2988G>A (p.Glu996=)
c.2985G>A (p.Glu995=)
c.3084G>A (p.Glu1028=)
c.*3012G>A (n.*3012G>A)
c.2106+182653G>A (n.2106+182653G>A)
n.75G>A
3g.184327360G>CCA355415032EIF2B5,EIF4G1c.3573G>C (p.Glu1191Asp)
c.3507G>C (p.Glu1169Asp)
c.2920G>C (n.2920G>C)
c.2976G>C (p.Glu992Asp)
c.3576G>C (p.Glu1192Asp)
c.3081G>C (p.Glu1027Asp)
c.3594G>C (p.Glu1198Asp)
c.3312G>C (p.Glu1104Asp)
c.3456G>C (p.Glu1152Asp)
c.3453G>C (p.Glu1151Asp)
c.3315G>C (p.Glu1105Asp)
c.2988G>C (p.Glu996Asp)
c.2985G>C (p.Glu995Asp)
c.3084G>C (p.Glu1028Asp)
c.*3012G>C (n.*3012G>C)
c.2106+182653G>C (n.2106+182653G>C)
n.75G>C
3g.184327360G>TCA355415033EIF2B5,EIF4G1c.3573G>T (p.Glu1191Asp)
c.3507G>T (p.Glu1169Asp)
c.2920G>T (n.2920G>T)
c.2976G>T (p.Glu992Asp)
c.3576G>T (p.Glu1192Asp)
c.3081G>T (p.Glu1027Asp)
c.3594G>T (p.Glu1198Asp)
c.3312G>T (p.Glu1104Asp)
c.3456G>T (p.Glu1152Asp)
c.3453G>T (p.Glu1151Asp)
c.3315G>T (p.Glu1105Asp)
c.2988G>T (p.Glu996Asp)
c.2985G>T (p.Glu995Asp)
c.3084G>T (p.Glu1028Asp)
c.*3012G>T (n.*3012G>T)
c.2106+182653G>T (n.2106+182653G>T)
n.75G>T
 COSMIC
3g.184327361G>ACA355415034EIF2B5,EIF4G1c.3574G>A (p.Glu1192Lys)
c.3508G>A (p.Glu1170Lys)
c.2921G>A (n.2921G>A)
c.2977G>A (p.Glu993Lys)
c.3577G>A (p.Glu1193Lys)
c.3082G>A (p.Glu1028Lys)
c.3595G>A (p.Glu1199Lys)
c.3313G>A (p.Glu1105Lys)
c.3457G>A (p.Glu1153Lys)
c.3454G>A (p.Glu1152Lys)
c.3316G>A (p.Glu1106Lys)
c.2989G>A (p.Glu997Lys)
c.2986G>A (p.Glu996Lys)
c.3085G>A (p.Glu1029Lys)
c.*3013G>A (n.*3013G>A)
c.2106+182654G>A (n.2106+182654G>A)
n.76G>A
 gnomAD v4
3g.184327361G>CCA355415036EIF2B5,EIF4G1c.3574G>C (p.Glu1192Gln)
c.3508G>C (p.Glu1170Gln)
c.2921G>C (n.2921G>C)
c.2977G>C (p.Glu993Gln)
c.3577G>C (p.Glu1193Gln)
c.3082G>C (p.Glu1028Gln)
c.3595G>C (p.Glu1199Gln)
c.3313G>C (p.Glu1105Gln)
c.3457G>C (p.Glu1153Gln)
c.3454G>C (p.Glu1152Gln)
c.3316G>C (p.Glu1106Gln)
c.2989G>C (p.Glu997Gln)
c.2986G>C (p.Glu996Gln)
c.3085G>C (p.Glu1029Gln)
c.*3013G>C (n.*3013G>C)
c.2106+182654G>C (n.2106+182654G>C)
n.76G>C
3g.184327361G>TCA355415038EIF2B5,EIF4G1c.3574G>T (p.Glu1192Ter)
c.3508G>T (p.Glu1170Ter)
c.2921G>T (n.2921G>T)
c.2977G>T (p.Glu993Ter)
c.3577G>T (p.Glu1193Ter)
c.3082G>T (p.Glu1028Ter)
c.3595G>T (p.Glu1199Ter)
c.3313G>T (p.Glu1105Ter)
c.3457G>T (p.Glu1153Ter)
c.3454G>T (p.Glu1152Ter)
c.3316G>T (p.Glu1106Ter)
c.2989G>T (p.Glu997Ter)
c.2986G>T (p.Glu996Ter)
c.3085G>T (p.Glu1029Ter)
c.*3013G>T (n.*3013G>T)
c.2106+182654G>T (n.2106+182654G>T)
n.76G>T
3g.184327362A>CCA355415042EIF2B5,EIF4G1c.3575A>C (p.Glu1192Ala)
c.3509A>C (p.Glu1170Ala)
c.2922A>C (n.2922A>C)
c.2978A>C (p.Glu993Ala)
c.3578A>C (p.Glu1193Ala)
c.3083A>C (p.Glu1028Ala)
c.3596A>C (p.Glu1199Ala)
c.3314A>C (p.Glu1105Ala)
c.3458A>C (p.Glu1153Ala)
c.3455A>C (p.Glu1152Ala)
c.3317A>C (p.Glu1106Ala)
c.2990A>C (p.Glu997Ala)
c.2987A>C (p.Glu996Ala)
c.3086A>C (p.Glu1029Ala)
c.*3014A>C (n.*3014A>C)
c.2106+182655A>C (n.2106+182655A>C)
n.77A>C
3g.184327362A>GCA355415043EIF2B5,EIF4G1c.3575A>G (p.Glu1192Gly)
c.3509A>G (p.Glu1170Gly)
c.2922A>G (n.2922A>G)
c.2978A>G (p.Glu993Gly)
c.3578A>G (p.Glu1193Gly)
c.3083A>G (p.Glu1028Gly)
c.3596A>G (p.Glu1199Gly)
c.3314A>G (p.Glu1105Gly)
c.3458A>G (p.Glu1153Gly)
c.3455A>G (p.Glu1152Gly)
c.3317A>G (p.Glu1106Gly)
c.2990A>G (p.Glu997Gly)
c.2987A>G (p.Glu996Gly)
c.3086A>G (p.Glu1029Gly)
c.*3014A>G (n.*3014A>G)
c.2106+182655A>G (n.2106+182655A>G)
n.77A>G
 gnomAD v4
3g.184327362A>TCA355415044EIF2B5,EIF4G1c.3575A>T (p.Glu1192Val)
c.3509A>T (p.Glu1170Val)
c.2922A>T (n.2922A>T)
c.2978A>T (p.Glu993Val)
c.3578A>T (p.Glu1193Val)
c.3083A>T (p.Glu1028Val)
c.3596A>T (p.Glu1199Val)
c.3314A>T (p.Glu1105Val)
c.3458A>T (p.Glu1153Val)
c.3455A>T (p.Glu1152Val)
c.3317A>T (p.Glu1106Val)
c.2990A>T (p.Glu997Val)
c.2987A>T (p.Glu996Val)
c.3086A>T (p.Glu1029Val)
c.*3014A>T (n.*3014A>T)
c.2106+182655A>T (n.2106+182655A>T)
n.77A>T
3g.184327363G>ACA437330576EIF2B5,EIF4G1c.3576G>A (p.Glu1192=)
c.3510G>A (p.Glu1170=)
c.2923G>A (n.2923G>A)
c.2979G>A (p.Glu993=)
c.3579G>A (p.Glu1193=)
c.3084G>A (p.Glu1028=)
c.3597G>A (p.Glu1199=)
c.3315G>A (p.Glu1105=)
c.3459G>A (p.Glu1153=)
c.3456G>A (p.Glu1152=)
c.3318G>A (p.Glu1106=)
c.2991G>A (p.Glu997=)
c.2988G>A (p.Glu996=)
c.3087G>A (p.Glu1029=)
c.*3015G>A (n.*3015G>A)
c.2106+182656G>A (n.2106+182656G>A)
n.78G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.184327363G>CCA355415048EIF2B5,EIF4G1c.3576G>C (p.Glu1192Asp)
c.3510G>C (p.Glu1170Asp)
c.2923G>C (n.2923G>C)
c.2979G>C (p.Glu993Asp)
c.3579G>C (p.Glu1193Asp)
c.3084G>C (p.Glu1028Asp)
c.3597G>C (p.Glu1199Asp)
c.3315G>C (p.Glu1105Asp)
c.3459G>C (p.Glu1153Asp)
c.3456G>C (p.Glu1152Asp)
c.3318G>C (p.Glu1106Asp)
c.2991G>C (p.Glu997Asp)
c.2988G>C (p.Glu996Asp)
c.3087G>C (p.Glu1029Asp)
c.*3015G>C (n.*3015G>C)
c.2106+182656G>C (n.2106+182656G>C)
n.78G>C
 gnomAD v4
3g.184327363G=CA1425958333EIF2B5,EIF4G1c.3576G= (p.Glu1192=)
c.3510G= (p.Glu1170=)
c.2923G= (n.2923G=)
c.2979G= (p.Glu993=)
c.3579G= (p.Glu1193=)
c.3084G= (p.Glu1028=)
c.3597G= (p.Glu1199=)
c.3315G= (p.Glu1105=)
c.3459G= (p.Glu1153=)
c.3456G= (p.Glu1152=)
c.3318G= (p.Glu1106=)
c.2991G= (p.Glu997=)
c.2988G= (p.Glu996=)
c.3087G= (p.Glu1029=)
c.*3015G= (n.*3015G=)
c.2106+182656G= (n.2106+182656G=)
n.78G=
3g.184327363G>TCA355415050EIF2B5,EIF4G1c.3576G>T (p.Glu1192Asp)
c.3510G>T (p.Glu1170Asp)
c.2923G>T (n.2923G>T)
c.2979G>T (p.Glu993Asp)
c.3579G>T (p.Glu1193Asp)
c.3084G>T (p.Glu1028Asp)
c.3597G>T (p.Glu1199Asp)
c.3315G>T (p.Glu1105Asp)
c.3459G>T (p.Glu1153Asp)
c.3456G>T (p.Glu1152Asp)
c.3318G>T (p.Glu1106Asp)
c.2991G>T (p.Glu997Asp)
c.2988G>T (p.Glu996Asp)
c.3087G>T (p.Glu1029Asp)
c.*3015G>T (n.*3015G>T)
c.2106+182656G>T (n.2106+182656G>T)
n.78G>T
3g.184327364C>ACA437330577EIF2B5,EIF4G1c.3577C>A (p.Arg1193=)
c.3511C>A (p.Arg1171=)
c.2924C>A (n.2924C>A)
c.2980C>A (p.Arg994=)
c.3580C>A (p.Arg1194=)
c.3085C>A (p.Arg1029=)
c.3598C>A (p.Arg1200=)
c.3316C>A (p.Arg1106=)
c.3460C>A (p.Arg1154=)
c.3457C>A (p.Arg1153=)
c.3319C>A (p.Arg1107=)
c.2992C>A (p.Arg998=)
c.2989C>A (p.Arg997=)
c.3088C>A (p.Arg1030=)
c.*3016C>A (n.*3016C>A)
c.2106+182657C>A (n.2106+182657C>A)
n.79C>A
3g.184327364C=CA1425958336EIF2B5,EIF4G1c.3577C= (p.Arg1193=)
c.3511C= (p.Arg1171=)
c.2924C= (n.2924C=)
c.2980C= (p.Arg994=)
c.3580C= (p.Arg1194=)
c.3085C= (p.Arg1029=)
c.3598C= (p.Arg1200=)
c.3316C= (p.Arg1106=)
c.3460C= (p.Arg1154=)
c.3457C= (p.Arg1153=)
c.3319C= (p.Arg1107=)
c.2992C= (p.Arg998=)
c.2989C= (p.Arg997=)
c.3088C= (p.Arg1030=)
c.*3016C= (n.*3016C=)
c.2106+182657C= (n.2106+182657C=)
n.79C=
3g.184327364C>GCA355415054EIF2B5,EIF4G1c.3577C>G (p.Arg1193Gly)
c.3511C>G (p.Arg1171Gly)
c.2924C>G (n.2924C>G)
c.2980C>G (p.Arg994Gly)
c.3580C>G (p.Arg1194Gly)
c.3085C>G (p.Arg1029Gly)
c.3598C>G (p.Arg1200Gly)
c.3316C>G (p.Arg1106Gly)
c.3460C>G (p.Arg1154Gly)
c.3457C>G (p.Arg1153Gly)
c.3319C>G (p.Arg1107Gly)
c.2992C>G (p.Arg998Gly)
c.2989C>G (p.Arg997Gly)
c.3088C>G (p.Arg1030Gly)
c.*3016C>G (n.*3016C>G)
c.2106+182657C>G (n.2106+182657C>G)
n.79C>G
3g.184327364C>TCA2732848EIF2B5,EIF4G1c.3577C>T (p.Arg1193Trp)
c.3511C>T (p.Arg1171Trp)
c.2924C>T (n.2924C>T)
c.2980C>T (p.Arg994Trp)
c.3580C>T (p.Arg1194Trp)
c.3085C>T (p.Arg1029Trp)
c.3598C>T (p.Arg1200Trp)
c.3316C>T (p.Arg1106Trp)
c.3460C>T (p.Arg1154Trp)
c.3457C>T (p.Arg1153Trp)
c.3319C>T (p.Arg1107Trp)
c.2992C>T (p.Arg998Trp)
c.2989C>T (p.Arg997Trp)
c.3088C>T (p.Arg1030Trp)
c.*3016C>T (n.*3016C>T)
c.2106+182657C>T (n.2106+182657C>T)
n.79C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.184327365G>ACA355415060EIF2B5,EIF4G1c.3578G>A (p.Arg1193Gln)
c.3512G>A (p.Arg1171Gln)
c.2925G>A (n.2925G>A)
c.2981G>A (p.Arg994Gln)
c.3581G>A (p.Arg1194Gln)
c.3086G>A (p.Arg1029Gln)
c.3599G>A (p.Arg1200Gln)
c.3317G>A (p.Arg1106Gln)
c.3461G>A (p.Arg1154Gln)
c.3458G>A (p.Arg1153Gln)
c.3320G>A (p.Arg1107Gln)
c.2993G>A (p.Arg998Gln)
c.2990G>A (p.Arg997Gln)
c.3089G>A (p.Arg1030Gln)
c.*3017G>A (n.*3017G>A)
c.2106+182658G>A (n.2106+182658G>A)
n.80G>A
 dbSNP gnomAD v3 gnomAD v4 COSMIC
3g.184327365G>CCA355415062EIF2B5,EIF4G1c.3578G>C (p.Arg1193Pro)
c.3512G>C (p.Arg1171Pro)
c.2925G>C (n.2925G>C)
c.2981G>C (p.Arg994Pro)
c.3581G>C (p.Arg1194Pro)
c.3086G>C (p.Arg1029Pro)
c.3599G>C (p.Arg1200Pro)
c.3317G>C (p.Arg1106Pro)
c.3461G>C (p.Arg1154Pro)
c.3458G>C (p.Arg1153Pro)
c.3320G>C (p.Arg1107Pro)
c.2993G>C (p.Arg998Pro)
c.2990G>C (p.Arg997Pro)
c.3089G>C (p.Arg1030Pro)
c.*3017G>C (n.*3017G>C)
c.2106+182658G>C (n.2106+182658G>C)
n.80G>C
3g.184327365G=CA1425958338EIF2B5,EIF4G1c.3578G= (p.Arg1193=)
c.3512G= (p.Arg1171=)
c.2925G= (n.2925G=)
c.2981G= (p.Arg994=)
c.3581G= (p.Arg1194=)
c.3086G= (p.Arg1029=)
c.3599G= (p.Arg1200=)
c.3317G= (p.Arg1106=)
c.3461G= (p.Arg1154=)
c.3458G= (p.Arg1153=)
c.3320G= (p.Arg1107=)
c.2993G= (p.Arg998=)
c.2990G= (p.Arg997=)
c.3089G= (p.Arg1030=)
c.*3017G= (n.*3017G=)
c.2106+182658G= (n.2106+182658G=)
n.80G=
3g.184327365G>TCA355415058EIF2B5,EIF4G1c.3578G>T (p.Arg1193Leu)
c.3512G>T (p.Arg1171Leu)
c.2925G>T (n.2925G>T)
c.2981G>T (p.Arg994Leu)
c.3581G>T (p.Arg1194Leu)
c.3086G>T (p.Arg1029Leu)
c.3599G>T (p.Arg1200Leu)
c.3317G>T (p.Arg1106Leu)
c.3461G>T (p.Arg1154Leu)
c.3458G>T (p.Arg1153Leu)
c.3320G>T (p.Arg1107Leu)
c.2993G>T (p.Arg998Leu)
c.2990G>T (p.Arg997Leu)
c.3089G>T (p.Arg1030Leu)
c.*3017G>T (n.*3017G>T)
c.2106+182658G>T (n.2106+182658G>T)
n.80G>T
3g.184327366G>ACA437330580EIF2B5,EIF4G1c.3579G>A (p.Arg1193=)
c.3513G>A (p.Arg1171=)
c.2926G>A (n.2926G>A)
c.2982G>A (p.Arg994=)
c.3582G>A (p.Arg1194=)
c.3087G>A (p.Arg1029=)
c.3600G>A (p.Arg1200=)
c.3318G>A (p.Arg1106=)
c.3462G>A (p.Arg1154=)
c.3459G>A (p.Arg1153=)
c.3321G>A (p.Arg1107=)
c.2994G>A (p.Arg998=)
c.2991G>A (p.Arg997=)
c.3090G>A (p.Arg1030=)
c.*3018G>A (n.*3018G>A)
c.2106+182659G>A (n.2106+182659G>A)
n.81G>A
3g.184327366G>CCA437330582EIF2B5,EIF4G1c.3579G>C (p.Arg1193=)
c.3513G>C (p.Arg1171=)
c.2926G>C (n.2926G>C)
c.2982G>C (p.Arg994=)
c.3582G>C (p.Arg1194=)
c.3087G>C (p.Arg1029=)
c.3600G>C (p.Arg1200=)
c.3318G>C (p.Arg1106=)
c.3462G>C (p.Arg1154=)
c.3459G>C (p.Arg1153=)
c.3321G>C (p.Arg1107=)
c.2994G>C (p.Arg998=)
c.2991G>C (p.Arg997=)
c.3090G>C (p.Arg1030=)
c.*3018G>C (n.*3018G>C)
c.2106+182659G>C (n.2106+182659G>C)
n.81G>C
3g.184327366G>TCA437330581EIF2B5,EIF4G1c.3579G>T (p.Arg1193=)
c.3513G>T (p.Arg1171=)
c.2926G>T (n.2926G>T)
c.2982G>T (p.Arg994=)
c.3582G>T (p.Arg1194=)
c.3087G>T (p.Arg1029=)
c.3600G>T (p.Arg1200=)
c.3318G>T (p.Arg1106=)
c.3462G>T (p.Arg1154=)
c.3459G>T (p.Arg1153=)
c.3321G>T (p.Arg1107=)
c.2994G>T (p.Arg998=)
c.2991G>T (p.Arg997=)
c.3090G>T (p.Arg1030=)
c.*3018G>T (n.*3018G>T)
c.2106+182659G>T (n.2106+182659G>T)
n.81G>T
3g.184327367A=CA1425958341EIF2B5,EIF4G1c.3580A= (p.Ser1194=)
c.3514A= (p.Ser1172=)
c.2927A= (n.2927A=)
c.2983A= (p.Ser995=)
c.3583A= (p.Ser1195=)
c.3088A= (p.Ser1030=)
c.3601A= (p.Ser1201=)
c.3319A= (p.Ser1107=)
c.3463A= (p.Ser1155=)
c.3460A= (p.Ser1154=)
c.3322A= (p.Ser1108=)
c.2995A= (p.Ser999=)
c.2992A= (p.Ser998=)
c.3091A= (p.Ser1031=)
c.*3019A= (n.*3019A=)
c.2106+182660A= (n.2106+182660A=)
n.82A=
3g.184327367A>CCA355415066EIF2B5,EIF4G1c.3580A>C (p.Ser1194Arg)
c.3514A>C (p.Ser1172Arg)
c.2927A>C (n.2927A>C)
c.2983A>C (p.Ser995Arg)
c.3583A>C (p.Ser1195Arg)
c.3088A>C (p.Ser1030Arg)
c.3601A>C (p.Ser1201Arg)
c.3319A>C (p.Ser1107Arg)
c.3463A>C (p.Ser1155Arg)
c.3460A>C (p.Ser1154Arg)
c.3322A>C (p.Ser1108Arg)
c.2995A>C (p.Ser999Arg)
c.2992A>C (p.Ser998Arg)
c.3091A>C (p.Ser1031Arg)
c.*3019A>C (n.*3019A>C)
c.2106+182660A>C (n.2106+182660A>C)
n.82A>C
 dbSNP gnomAD v4
3g.184327367A>GCA355415071EIF2B5,EIF4G1c.3580A>G (p.Ser1194Gly)
c.3514A>G (p.Ser1172Gly)
c.2927A>G (n.2927A>G)
c.2983A>G (p.Ser995Gly)
c.3583A>G (p.Ser1195Gly)
c.3088A>G (p.Ser1030Gly)
c.3601A>G (p.Ser1201Gly)
c.3319A>G (p.Ser1107Gly)
c.3463A>G (p.Ser1155Gly)
c.3460A>G (p.Ser1154Gly)
c.3322A>G (p.Ser1108Gly)
c.2995A>G (p.Ser999Gly)
c.2992A>G (p.Ser998Gly)
c.3091A>G (p.Ser1031Gly)
c.*3019A>G (n.*3019A>G)
c.2106+182660A>G (n.2106+182660A>G)
n.82A>G
 dbSNP gnomAD v2 gnomAD v4
3g.184327367A>TCA355415068EIF2B5,EIF4G1c.3580A>T (p.Ser1194Cys)
c.3514A>T (p.Ser1172Cys)
c.2927A>T (n.2927A>T)
c.2983A>T (p.Ser995Cys)
c.3583A>T (p.Ser1195Cys)
c.3088A>T (p.Ser1030Cys)
c.3601A>T (p.Ser1201Cys)
c.3319A>T (p.Ser1107Cys)
c.3463A>T (p.Ser1155Cys)
c.3460A>T (p.Ser1154Cys)
c.3322A>T (p.Ser1108Cys)
c.2995A>T (p.Ser999Cys)
c.2992A>T (p.Ser998Cys)
c.3091A>T (p.Ser1031Cys)
c.*3019A>T (n.*3019A>T)
c.2106+182660A>T (n.2106+182660A>T)
n.82A>T
3g.184327368G>ACA88867618EIF2B5,EIF4G1c.3581G>A (p.Ser1194Asn)
c.3515G>A (p.Ser1172Asn)
c.2928G>A (n.2928G>A)
c.2984G>A (p.Ser995Asn)
c.3584G>A (p.Ser1195Asn)
c.3089G>A (p.Ser1030Asn)
c.3602G>A (p.Ser1201Asn)
c.3320G>A (p.Ser1107Asn)
c.3464G>A (p.Ser1155Asn)
c.3461G>A (p.Ser1154Asn)
c.3323G>A (p.Ser1108Asn)
c.2996G>A (p.Ser999Asn)
c.2993G>A (p.Ser998Asn)
c.3092G>A (p.Ser1031Asn)
c.*3020G>A (n.*3020G>A)
c.2106+182661G>A (n.2106+182661G>A)
n.83G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.184327368G>CCA2732849EIF2B5,EIF4G1c.3581G>C (p.Ser1194Thr)
c.3515G>C (p.Ser1172Thr)
c.2928G>C (n.2928G>C)
c.2984G>C (p.Ser995Thr)
c.3584G>C (p.Ser1195Thr)
c.3089G>C (p.Ser1030Thr)
c.3602G>C (p.Ser1201Thr)
c.3320G>C (p.Ser1107Thr)
c.3464G>C (p.Ser1155Thr)
c.3461G>C (p.Ser1154Thr)
c.3323G>C (p.Ser1108Thr)
c.2996G>C (p.Ser999Thr)
c.2993G>C (p.Ser998Thr)
c.3092G>C (p.Ser1031Thr)
c.*3020G>C (n.*3020G>C)
c.2106+182661G>C (n.2106+182661G>C)
n.83G>C
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.184327368G=CA1425958346EIF2B5,EIF4G1c.3581G= (p.Ser1194=)
c.3515G= (p.Ser1172=)
c.2928G= (n.2928G=)
c.2984G= (p.Ser995=)
c.3584G= (p.Ser1195=)
c.3089G= (p.Ser1030=)
c.3602G= (p.Ser1201=)
c.3320G= (p.Ser1107=)
c.3464G= (p.Ser1155=)
c.3461G= (p.Ser1154=)
c.3323G= (p.Ser1108=)
c.2996G= (p.Ser999=)
c.2993G= (p.Ser998=)
c.3092G= (p.Ser1031=)
c.*3020G= (n.*3020G=)
c.2106+182661G= (n.2106+182661G=)
n.83G=
3g.184327368G>TCA355415082EIF2B5,EIF4G1c.3581G>T (p.Ser1194Ile)
c.3515G>T (p.Ser1172Ile)
c.2928G>T (n.2928G>T)
c.2984G>T (p.Ser995Ile)
c.3584G>T (p.Ser1195Ile)
c.3089G>T (p.Ser1030Ile)
c.3602G>T (p.Ser1201Ile)
c.3320G>T (p.Ser1107Ile)
c.3464G>T (p.Ser1155Ile)
c.3461G>T (p.Ser1154Ile)
c.3323G>T (p.Ser1108Ile)
c.2996G>T (p.Ser999Ile)
c.2993G>T (p.Ser998Ile)
c.3092G>T (p.Ser1031Ile)
c.*3020G>T (n.*3020G>T)
c.2106+182661G>T (n.2106+182661G>T)
n.83G>T
3g.184327369T>ACA355415085EIF2B5,EIF4G1c.3582T>A (p.Ser1194Arg)
c.3516T>A (p.Ser1172Arg)
c.2929T>A (n.2929T>A)
c.2985T>A (p.Ser995Arg)
c.3585T>A (p.Ser1195Arg)
c.3090T>A (p.Ser1030Arg)
c.3603T>A (p.Ser1201Arg)
c.3321T>A (p.Ser1107Arg)
c.3465T>A (p.Ser1155Arg)
c.3462T>A (p.Ser1154Arg)
c.3324T>A (p.Ser1108Arg)
c.2997T>A (p.Ser999Arg)
c.2994T>A (p.Ser998Arg)
c.3093T>A (p.Ser1031Arg)
c.*3021T>A (n.*3021T>A)
c.2106+182662T>A (n.2106+182662T>A)
n.84T>A
3g.184327369T>CCA437330586EIF2B5,EIF4G1c.3582T>C (p.Ser1194=)
c.3516T>C (p.Ser1172=)
c.2929T>C (n.2929T>C)
c.2985T>C (p.Ser995=)
c.3585T>C (p.Ser1195=)
c.3090T>C (p.Ser1030=)
c.3603T>C (p.Ser1201=)
c.3321T>C (p.Ser1107=)
c.3465T>C (p.Ser1155=)
c.3462T>C (p.Ser1154=)
c.3324T>C (p.Ser1108=)
c.2997T>C (p.Ser999=)
c.2994T>C (p.Ser998=)
c.3093T>C (p.Ser1031=)
c.*3021T>C (n.*3021T>C)
c.2106+182662T>C (n.2106+182662T>C)
n.84T>C
3g.184327369T>GCA355415088EIF2B5,EIF4G1c.3582T>G (p.Ser1194Arg)
c.3516T>G (p.Ser1172Arg)
c.2929T>G (n.2929T>G)
c.2985T>G (p.Ser995Arg)
c.3585T>G (p.Ser1195Arg)
c.3090T>G (p.Ser1030Arg)
c.3603T>G (p.Ser1201Arg)
c.3321T>G (p.Ser1107Arg)
c.3465T>G (p.Ser1155Arg)
c.3462T>G (p.Ser1154Arg)
c.3324T>G (p.Ser1108Arg)
c.2997T>G (p.Ser999Arg)
c.2994T>G (p.Ser998Arg)
c.3093T>G (p.Ser1031Arg)
c.*3021T>G (n.*3021T>G)
c.2106+182662T>G (n.2106+182662T>G)
n.84T>G
3g.184327370A=CA1425958351EIF2B5,EIF4G1c.3583A= (p.Arg1195=)
c.3517A= (p.Arg1173=)
c.2930A= (n.2930A=)
c.2986A= (p.Arg996=)
c.3586A= (p.Arg1196=)
c.3091A= (p.Arg1031=)
c.3604A= (p.Arg1202=)
c.3322A= (p.Arg1108=)
c.3466A= (p.Arg1156=)
c.3463A= (p.Arg1155=)
c.3325A= (p.Arg1109=)
c.2998A= (p.Arg1000=)
c.2995A= (p.Arg999=)
c.3094A= (p.Arg1032=)
c.*3022A= (n.*3022A=)
c.2106+182663A= (n.2106+182663A=)
n.85A=
3g.184327370A>CCA437330587EIF2B5,EIF4G1c.3583A>C (p.Arg1195=)
c.3517A>C (p.Arg1173=)
c.2930A>C (n.2930A>C)
c.2986A>C (p.Arg996=)
c.3586A>C (p.Arg1196=)
c.3091A>C (p.Arg1031=)
c.3604A>C (p.Arg1202=)
c.3322A>C (p.Arg1108=)
c.3466A>C (p.Arg1156=)
c.3463A>C (p.Arg1155=)
c.3325A>C (p.Arg1109=)
c.2998A>C (p.Arg1000=)
c.2995A>C (p.Arg999=)
c.3094A>C (p.Arg1032=)
c.*3022A>C (n.*3022A>C)
c.2106+182663A>C (n.2106+182663A>C)
n.85A>C
3g.184327370A>GCA2732850EIF2B5,EIF4G1c.3583A>G (p.Arg1195Gly)
c.3517A>G (p.Arg1173Gly)
c.2930A>G (n.2930A>G)
c.2986A>G (p.Arg996Gly)
c.3586A>G (p.Arg1196Gly)
c.3091A>G (p.Arg1031Gly)
c.3604A>G (p.Arg1202Gly)
c.3322A>G (p.Arg1108Gly)
c.3466A>G (p.Arg1156Gly)
c.3463A>G (p.Arg1155Gly)
c.3325A>G (p.Arg1109Gly)
c.2998A>G (p.Arg1000Gly)
c.2995A>G (p.Arg999Gly)
c.3094A>G (p.Arg1032Gly)
c.*3022A>G (n.*3022A>G)
c.2106+182663A>G (n.2106+182663A>G)
n.85A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.184327370A>TCA355415096EIF2B5,EIF4G1c.3583A>T (p.Arg1195Ter)
c.3517A>T (p.Arg1173Ter)
c.2930A>T (n.2930A>T)
c.2986A>T (p.Arg996Ter)
c.3586A>T (p.Arg1196Ter)
c.3091A>T (p.Arg1031Ter)
c.3604A>T (p.Arg1202Ter)
c.3322A>T (p.Arg1108Ter)
c.3466A>T (p.Arg1156Ter)
c.3463A>T (p.Arg1155Ter)
c.3325A>T (p.Arg1109Ter)
c.2998A>T (p.Arg1000Ter)
c.2995A>T (p.Arg999Ter)
c.3094A>T (p.Arg1032Ter)
c.*3022A>T (n.*3022A>T)
c.2106+182663A>T (n.2106+182663A>T)
n.85A>T
3g.184327371G>ACA355415099EIF2B5,EIF4G1c.3584G>A (p.Arg1195Lys)
c.3518G>A (p.Arg1173Lys)
c.2931G>A (n.2931G>A)
c.2987G>A (p.Arg996Lys)
c.3587G>A (p.Arg1196Lys)
c.3092G>A (p.Arg1031Lys)
c.3605G>A (p.Arg1202Lys)
c.3323G>A (p.Arg1108Lys)
c.3467G>A (p.Arg1156Lys)
c.3464G>A (p.Arg1155Lys)
c.3326G>A (p.Arg1109Lys)
c.2999G>A (p.Arg1000Lys)
c.2996G>A (p.Arg999Lys)
c.3095G>A (p.Arg1032Lys)
c.*3023G>A (n.*3023G>A)
c.2106+182664G>A (n.2106+182664G>A)
n.86G>A
3g.184327371G>CCA355415101EIF2B5,EIF4G1c.3584G>C (p.Arg1195Thr)
c.3518G>C (p.Arg1173Thr)
c.2931G>C (n.2931G>C)
c.2987G>C (p.Arg996Thr)
c.3587G>C (p.Arg1196Thr)
c.3092G>C (p.Arg1031Thr)
c.3605G>C (p.Arg1202Thr)
c.3323G>C (p.Arg1108Thr)
c.3467G>C (p.Arg1156Thr)
c.3464G>C (p.Arg1155Thr)
c.3326G>C (p.Arg1109Thr)
c.2999G>C (p.Arg1000Thr)
c.2996G>C (p.Arg999Thr)
c.3095G>C (p.Arg1032Thr)
c.*3023G>C (n.*3023G>C)
c.2106+182664G>C (n.2106+182664G>C)
n.86G>C
3g.184327371G>TCA355415103EIF2B5,EIF4G1c.3584G>T (p.Arg1195Ile)
c.3518G>T (p.Arg1173Ile)
c.2931G>T (n.2931G>T)
c.2987G>T (p.Arg996Ile)
c.3587G>T (p.Arg1196Ile)
c.3092G>T (p.Arg1031Ile)
c.3605G>T (p.Arg1202Ile)
c.3323G>T (p.Arg1108Ile)
c.3467G>T (p.Arg1156Ile)
c.3464G>T (p.Arg1155Ile)
c.3326G>T (p.Arg1109Ile)
c.2999G>T (p.Arg1000Ile)
c.2996G>T (p.Arg999Ile)
c.3095G>T (p.Arg1032Ile)
c.*3023G>T (n.*3023G>T)
c.2106+182664G>T (n.2106+182664G>T)
n.86G>T
3g.184327372A>CCA355415109EIF2B5,EIF4G1c.3585A>C (p.Arg1195Ser)
c.3519A>C (p.Arg1173Ser)
c.2932A>C (n.2932A>C)
c.2988A>C (p.Arg996Ser)
c.3588A>C (p.Arg1196Ser)
c.3093A>C (p.Arg1031Ser)
c.3606A>C (p.Arg1202Ser)
c.3324A>C (p.Arg1108Ser)
c.3468A>C (p.Arg1156Ser)
c.3465A>C (p.Arg1155Ser)
c.3327A>C (p.Arg1109Ser)
c.3000A>C (p.Arg1000Ser)
c.2997A>C (p.Arg999Ser)
c.3096A>C (p.Arg1032Ser)
c.*3024A>C (n.*3024A>C)
c.2106+182665A>C (n.2106+182665A>C)
n.87A>C
3g.184327372A>GCA437330591EIF2B5,EIF4G1c.3585A>G (p.Arg1195=)
c.3519A>G (p.Arg1173=)
c.2932A>G (n.2932A>G)
c.2988A>G (p.Arg996=)
c.3588A>G (p.Arg1196=)
c.3093A>G (p.Arg1031=)
c.3606A>G (p.Arg1202=)
c.3324A>G (p.Arg1108=)
c.3468A>G (p.Arg1156=)
c.3465A>G (p.Arg1155=)
c.3327A>G (p.Arg1109=)
c.3000A>G (p.Arg1000=)
c.2997A>G (p.Arg999=)
c.3096A>G (p.Arg1032=)
c.*3024A>G (n.*3024A>G)
c.2106+182665A>G (n.2106+182665A>G)
n.87A>G
 gnomAD v4
3g.184327372A>TCA355415112EIF2B5,EIF4G1c.3585A>T (p.Arg1195Ser)
c.3519A>T (p.Arg1173Ser)
c.2932A>T (n.2932A>T)
c.2988A>T (p.Arg996Ser)
c.3588A>T (p.Arg1196Ser)
c.3093A>T (p.Arg1031Ser)
c.3606A>T (p.Arg1202Ser)
c.3324A>T (p.Arg1108Ser)
c.3468A>T (p.Arg1156Ser)
c.3465A>T (p.Arg1155Ser)
c.3327A>T (p.Arg1109Ser)
c.3000A>T (p.Arg1000Ser)
c.2997A>T (p.Arg999Ser)
c.3096A>T (p.Arg1032Ser)
c.*3024A>T (n.*3024A>T)
c.2106+182665A>T (n.2106+182665A>T)
n.87A>T
3g.184327373G>ACA355415116EIF2B5,EIF4G1c.3586G>A (p.Glu1196Lys)
c.3520G>A (p.Glu1174Lys)
c.2933G>A (n.2933G>A)
c.2989G>A (p.Glu997Lys)
c.3589G>A (p.Glu1197Lys)
c.3094G>A (p.Glu1032Lys)
c.3607G>A (p.Glu1203Lys)
c.3325G>A (p.Glu1109Lys)
c.3469G>A (p.Glu1157Lys)
c.3466G>A (p.Glu1156Lys)
c.3328G>A (p.Glu1110Lys)
c.3001G>A (p.Glu1001Lys)
c.2998G>A (p.Glu1000Lys)
c.3097G>A (p.Glu1033Lys)
c.*3025G>A (n.*3025G>A)
c.2106+182666G>A (n.2106+182666G>A)
n.88G>A
3g.184327373G>CCA355415121EIF2B5,EIF4G1c.3586G>C (p.Glu1196Gln)
c.3520G>C (p.Glu1174Gln)
c.2933G>C (n.2933G>C)
c.2989G>C (p.Glu997Gln)
c.3589G>C (p.Glu1197Gln)
c.3094G>C (p.Glu1032Gln)
c.3607G>C (p.Glu1203Gln)
c.3325G>C (p.Glu1109Gln)
c.3469G>C (p.Glu1157Gln)
c.3466G>C (p.Glu1156Gln)
c.3328G>C (p.Glu1110Gln)
c.3001G>C (p.Glu1001Gln)
c.2998G>C (p.Glu1000Gln)
c.3097G>C (p.Glu1033Gln)
c.*3025G>C (n.*3025G>C)
c.2106+182666G>C (n.2106+182666G>C)
n.88G>C
3g.184327373G>TCA355415119EIF2B5,EIF4G1c.3586G>T (p.Glu1196Ter)
c.3520G>T (p.Glu1174Ter)
c.2933G>T (n.2933G>T)
c.2989G>T (p.Glu997Ter)
c.3589G>T (p.Glu1197Ter)
c.3094G>T (p.Glu1032Ter)
c.3607G>T (p.Glu1203Ter)
c.3325G>T (p.Glu1109Ter)
c.3469G>T (p.Glu1157Ter)
c.3466G>T (p.Glu1156Ter)
c.3328G>T (p.Glu1110Ter)
c.3001G>T (p.Glu1001Ter)
c.2998G>T (p.Glu1000Ter)
c.3097G>T (p.Glu1033Ter)
c.*3025G>T (n.*3025G>T)
c.2106+182666G>T (n.2106+182666G>T)
n.88G>T
3g.184327374A=CA1425958353EIF2B5,EIF4G1c.3587A= (p.Glu1196=)
c.3521A= (p.Glu1174=)
c.2934A= (n.2934A=)
c.2990A= (p.Glu997=)
c.3590A= (p.Glu1197=)
c.3095A= (p.Glu1032=)
c.3608A= (p.Glu1203=)
c.3326A= (p.Glu1109=)
c.3470A= (p.Glu1157=)
c.3467A= (p.Glu1156=)
c.3329A= (p.Glu1110=)
c.3002A= (p.Glu1001=)
c.2999A= (p.Glu1000=)
c.3098A= (p.Glu1033=)
c.*3026A= (n.*3026A=)
c.2106+182667A= (n.2106+182667A=)
n.89A=
3g.184327374A>CCA2732851EIF2B5,EIF4G1c.3587A>C (p.Glu1196Ala)
c.3521A>C (p.Glu1174Ala)
c.2934A>C (n.2934A>C)
c.2990A>C (p.Glu997Ala)
c.3590A>C (p.Glu1197Ala)
c.3095A>C (p.Glu1032Ala)
c.3608A>C (p.Glu1203Ala)
c.3326A>C (p.Glu1109Ala)
c.3470A>C (p.Glu1157Ala)
c.3467A>C (p.Glu1156Ala)
c.3329A>C (p.Glu1110Ala)
c.3002A>C (p.Glu1001Ala)
c.2999A>C (p.Glu1000Ala)
c.3098A>C (p.Glu1033Ala)
c.*3026A>C (n.*3026A>C)
c.2106+182667A>C (n.2106+182667A>C)
n.89A>C
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.184327374A>GCA2732852EIF2B5,EIF4G1c.3587A>G (p.Glu1196Gly)
c.3521A>G (p.Glu1174Gly)
c.2934A>G (n.2934A>G)
c.2990A>G (p.Glu997Gly)
c.3590A>G (p.Glu1197Gly)
c.3095A>G (p.Glu1032Gly)
c.3608A>G (p.Glu1203Gly)
c.3326A>G (p.Glu1109Gly)
c.3470A>G (p.Glu1157Gly)
c.3467A>G (p.Glu1156Gly)
c.3329A>G (p.Glu1110Gly)
c.3002A>G (p.Glu1001Gly)
c.2999A>G (p.Glu1000Gly)
c.3098A>G (p.Glu1033Gly)
c.*3026A>G (n.*3026A>G)
c.2106+182667A>G (n.2106+182667A>G)
n.89A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.184327374A>TCA355415129EIF2B5,EIF4G1c.3587A>T (p.Glu1196Val)
c.3521A>T (p.Glu1174Val)
c.2934A>T (n.2934A>T)
c.2990A>T (p.Glu997Val)
c.3590A>T (p.Glu1197Val)
c.3095A>T (p.Glu1032Val)
c.3608A>T (p.Glu1203Val)
c.3326A>T (p.Glu1109Val)
c.3470A>T (p.Glu1157Val)
c.3467A>T (p.Glu1156Val)
c.3329A>T (p.Glu1110Val)
c.3002A>T (p.Glu1001Val)
c.2999A>T (p.Glu1000Val)
c.3098A>T (p.Glu1033Val)
c.*3026A>T (n.*3026A>T)
c.2106+182667A>T (n.2106+182667A>T)
n.89A>T
3g.184327375A=CA1425958356EIF2B5,EIF4G1c.3588A= (p.Glu1196=)
c.3522A= (p.Glu1174=)
c.2935A= (n.2935A=)
c.2991A= (p.Glu997=)
c.3591A= (p.Glu1197=)
c.3096A= (p.Glu1032=)
c.3609A= (p.Glu1203=)
c.3327A= (p.Glu1109=)
c.3471A= (p.Glu1157=)
c.3468A= (p.Glu1156=)
c.3330A= (p.Glu1110=)
c.3003A= (p.Glu1001=)
c.3000A= (p.Glu1000=)
c.3099A= (p.Glu1033=)
c.*3027A= (n.*3027A=)
c.2106+182668A= (n.2106+182668A=)
n.90A=
3g.184327375A>CCA355415134EIF2B5,EIF4G1c.3588A>C (p.Glu1196Asp)
c.3522A>C (p.Glu1174Asp)
c.2935A>C (n.2935A>C)
c.2991A>C (p.Glu997Asp)
c.3591A>C (p.Glu1197Asp)
c.3096A>C (p.Glu1032Asp)
c.3609A>C (p.Glu1203Asp)
c.3327A>C (p.Glu1109Asp)
c.3471A>C (p.Glu1157Asp)
c.3468A>C (p.Glu1156Asp)
c.3330A>C (p.Glu1110Asp)
c.3003A>C (p.Glu1001Asp)
c.3000A>C (p.Glu1000Asp)
c.3099A>C (p.Glu1033Asp)
c.*3027A>C (n.*3027A>C)
c.2106+182668A>C (n.2106+182668A>C)
n.90A>C
3g.184327375A>GCA437330594EIF2B5,EIF4G1c.3588A>G (p.Glu1196=)
c.3522A>G (p.Glu1174=)
c.2935A>G (n.2935A>G)
c.2991A>G (p.Glu997=)
c.3591A>G (p.Glu1197=)
c.3096A>G (p.Glu1032=)
c.3609A>G (p.Glu1203=)
c.3327A>G (p.Glu1109=)
c.3471A>G (p.Glu1157=)
c.3468A>G (p.Glu1156=)
c.3330A>G (p.Glu1110=)
c.3003A>G (p.Glu1001=)
c.3000A>G (p.Glu1000=)
c.3099A>G (p.Glu1033=)
c.*3027A>G (n.*3027A>G)
c.2106+182668A>G (n.2106+182668A>G)
n.90A>G
 dbSNP gnomAD v2 gnomAD v4
3g.184327375A>TCA355415138EIF2B5,EIF4G1c.3588A>T (p.Glu1196Asp)
c.3522A>T (p.Glu1174Asp)
c.2935A>T (n.2935A>T)
c.2991A>T (p.Glu997Asp)
c.3591A>T (p.Glu1197Asp)
c.3096A>T (p.Glu1032Asp)
c.3609A>T (p.Glu1203Asp)
c.3327A>T (p.Glu1109Asp)
c.3471A>T (p.Glu1157Asp)
c.3468A>T (p.Glu1156Asp)
c.3330A>T (p.Glu1110Asp)
c.3003A>T (p.Glu1001Asp)
c.3000A>T (p.Glu1000Asp)
c.3099A>T (p.Glu1033Asp)
c.*3027A>T (n.*3027A>T)
c.2106+182668A>T (n.2106+182668A>T)
n.90A>T
3g.184327376C>ACA437330595EIF2B5,EIF4G1c.3589C>A (p.Arg1197=)
c.3523C>A (p.Arg1175=)
c.2936C>A (n.2936C>A)
c.2992C>A (p.Arg998=)
c.3592C>A (p.Arg1198=)
c.3097C>A (p.Arg1033=)
c.3610C>A (p.Arg1204=)
c.3328C>A (p.Arg1110=)
c.3472C>A (p.Arg1158=)
c.3469C>A (p.Arg1157=)
c.3331C>A (p.Arg1111=)
c.3004C>A (p.Arg1002=)
c.3001C>A (p.Arg1001=)
c.3100C>A (p.Arg1034=)
c.*3028C>A (n.*3028C>A)
c.2106+182669C>A (n.2106+182669C>A)
n.91C>A
3g.184327376C=CA1425958358EIF2B5,EIF4G1c.3589C= (p.Arg1197=)
c.3523C= (p.Arg1175=)
c.2936C= (n.2936C=)
c.2992C= (p.Arg998=)
c.3592C= (p.Arg1198=)
c.3097C= (p.Arg1033=)
c.3610C= (p.Arg1204=)
c.3328C= (p.Arg1110=)
c.3472C= (p.Arg1158=)
c.3469C= (p.Arg1157=)
c.3331C= (p.Arg1111=)
c.3004C= (p.Arg1002=)
c.3001C= (p.Arg1001=)
c.3100C= (p.Arg1034=)
c.*3028C= (n.*3028C=)
c.2106+182669C= (n.2106+182669C=)
n.91C=
3g.184327376C>GCA355415141EIF2B5,EIF4G1c.3589C>G (p.Arg1197Gly)
c.3523C>G (p.Arg1175Gly)
c.2936C>G (n.2936C>G)
c.2992C>G (p.Arg998Gly)
c.3592C>G (p.Arg1198Gly)
c.3097C>G (p.Arg1033Gly)
c.3610C>G (p.Arg1204Gly)
c.3328C>G (p.Arg1110Gly)
c.3472C>G (p.Arg1158Gly)
c.3469C>G (p.Arg1157Gly)
c.3331C>G (p.Arg1111Gly)
c.3004C>G (p.Arg1002Gly)
c.3001C>G (p.Arg1001Gly)
c.3100C>G (p.Arg1034Gly)
c.*3028C>G (n.*3028C>G)
c.2106+182669C>G (n.2106+182669C>G)
n.91C>G
3g.184327376C>TCA2732853EIF2B5,EIF4G1c.3589C>T (p.Arg1197Trp)
c.3523C>T (p.Arg1175Trp)
c.2936C>T (n.2936C>T)
c.2992C>T (p.Arg998Trp)
c.3592C>T (p.Arg1198Trp)
c.3097C>T (p.Arg1033Trp)
c.3610C>T (p.Arg1204Trp)
c.3328C>T (p.Arg1110Trp)
c.3472C>T (p.Arg1158Trp)
c.3469C>T (p.Arg1157Trp)
c.3331C>T (p.Arg1111Trp)
c.3004C>T (p.Arg1002Trp)
c.3001C>T (p.Arg1001Trp)
c.3100C>T (p.Arg1034Trp)
c.*3028C>T (n.*3028C>T)
c.2106+182669C>T (n.2106+182669C>T)
n.91C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched