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.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

Number of alleles fetched