Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.184327385C>ACA355415200EIF2B5,EIF4G1c.3598C>A (p.Gln1200Lys)
c.3532C>A (p.Gln1178Lys)
c.2945C>A (n.2945C>A)
c.3001C>A (p.Gln1001Lys)
c.3601C>A (p.Gln1201Lys)
c.3106C>A (p.Gln1036Lys)
c.3619C>A (p.Gln1207Lys)
c.3337C>A (p.Gln1113Lys)
c.3481C>A (p.Gln1161Lys)
c.3478C>A (p.Gln1160Lys)
c.3340C>A (p.Gln1114Lys)
c.3013C>A (p.Gln1005Lys)
c.3010C>A (p.Gln1004Lys)
c.3109C>A (p.Gln1037Lys)
c.*3037C>A (n.*3037C>A)
c.2106+182678C>A (n.2106+182678C>A)
n.100C>A
3g.184327385C>GCA355415202EIF2B5,EIF4G1c.3598C>G (p.Gln1200Glu)
c.3532C>G (p.Gln1178Glu)
c.2945C>G (n.2945C>G)
c.3001C>G (p.Gln1001Glu)
c.3601C>G (p.Gln1201Glu)
c.3106C>G (p.Gln1036Glu)
c.3619C>G (p.Gln1207Glu)
c.3337C>G (p.Gln1113Glu)
c.3481C>G (p.Gln1161Glu)
c.3478C>G (p.Gln1160Glu)
c.3340C>G (p.Gln1114Glu)
c.3013C>G (p.Gln1005Glu)
c.3010C>G (p.Gln1004Glu)
c.3109C>G (p.Gln1037Glu)
c.*3037C>G (n.*3037C>G)
c.2106+182678C>G (n.2106+182678C>G)
n.100C>G
3g.184327385C>TCA355415204EIF2B5,EIF4G1c.3598C>T (p.Gln1200Ter)
c.3532C>T (p.Gln1178Ter)
c.2945C>T (n.2945C>T)
c.3001C>T (p.Gln1001Ter)
c.3601C>T (p.Gln1201Ter)
c.3106C>T (p.Gln1036Ter)
c.3619C>T (p.Gln1207Ter)
c.3337C>T (p.Gln1113Ter)
c.3481C>T (p.Gln1161Ter)
c.3478C>T (p.Gln1160Ter)
c.3340C>T (p.Gln1114Ter)
c.3013C>T (p.Gln1005Ter)
c.3010C>T (p.Gln1004Ter)
c.3109C>T (p.Gln1037Ter)
c.*3037C>T (n.*3037C>T)
c.2106+182678C>T (n.2106+182678C>T)
n.100C>T
3g.184327386A>CCA355415210EIF2B5,EIF4G1c.3599A>C (p.Gln1200Pro)
c.3533A>C (p.Gln1178Pro)
c.2946A>C (n.2946A>C)
c.3002A>C (p.Gln1001Pro)
c.3602A>C (p.Gln1201Pro)
c.3107A>C (p.Gln1036Pro)
c.3620A>C (p.Gln1207Pro)
c.3338A>C (p.Gln1113Pro)
c.3482A>C (p.Gln1161Pro)
c.3479A>C (p.Gln1160Pro)
c.3341A>C (p.Gln1114Pro)
c.3014A>C (p.Gln1005Pro)
c.3011A>C (p.Gln1004Pro)
c.3110A>C (p.Gln1037Pro)
c.*3038A>C (n.*3038A>C)
c.2106+182679A>C (n.2106+182679A>C)
n.101A>C
3g.184327386A>GCA355415212EIF2B5,EIF4G1c.3599A>G (p.Gln1200Arg)
c.3533A>G (p.Gln1178Arg)
c.2946A>G (n.2946A>G)
c.3002A>G (p.Gln1001Arg)
c.3602A>G (p.Gln1201Arg)
c.3107A>G (p.Gln1036Arg)
c.3620A>G (p.Gln1207Arg)
c.3338A>G (p.Gln1113Arg)
c.3482A>G (p.Gln1161Arg)
c.3479A>G (p.Gln1160Arg)
c.3341A>G (p.Gln1114Arg)
c.3014A>G (p.Gln1005Arg)
c.3011A>G (p.Gln1004Arg)
c.3110A>G (p.Gln1037Arg)
c.*3038A>G (n.*3038A>G)
c.2106+182679A>G (n.2106+182679A>G)
n.101A>G
3g.184327386A>TCA355415208EIF2B5,EIF4G1c.3599A>T (p.Gln1200Leu)
c.3533A>T (p.Gln1178Leu)
c.2946A>T (n.2946A>T)
c.3002A>T (p.Gln1001Leu)
c.3602A>T (p.Gln1201Leu)
c.3107A>T (p.Gln1036Leu)
c.3620A>T (p.Gln1207Leu)
c.3338A>T (p.Gln1113Leu)
c.3482A>T (p.Gln1161Leu)
c.3479A>T (p.Gln1160Leu)
c.3341A>T (p.Gln1114Leu)
c.3014A>T (p.Gln1005Leu)
c.3011A>T (p.Gln1004Leu)
c.3110A>T (p.Gln1037Leu)
c.*3038A>T (n.*3038A>T)
c.2106+182679A>T (n.2106+182679A>T)
n.101A>T
3g.184327387G>ACA437330607EIF2B5,EIF4G1c.3600G>A (p.Gln1200=)
c.3534G>A (p.Gln1178=)
c.2947G>A (n.2947G>A)
c.3003G>A (p.Gln1001=)
c.3603G>A (p.Gln1201=)
c.3108G>A (p.Gln1036=)
c.3621G>A (p.Gln1207=)
c.3339G>A (p.Gln1113=)
c.3483G>A (p.Gln1161=)
c.3480G>A (p.Gln1160=)
c.3342G>A (p.Gln1114=)
c.3015G>A (p.Gln1005=)
c.3012G>A (p.Gln1004=)
c.3111G>A (p.Gln1037=)
c.*3039G>A (n.*3039G>A)
c.2106+182680G>A (n.2106+182680G>A)
n.102G>A
3g.184327387G>CCA355415214EIF2B5,EIF4G1c.3600G>C (p.Gln1200His)
c.3534G>C (p.Gln1178His)
c.2947G>C (n.2947G>C)
c.3003G>C (p.Gln1001His)
c.3603G>C (p.Gln1201His)
c.3108G>C (p.Gln1036His)
c.3621G>C (p.Gln1207His)
c.3339G>C (p.Gln1113His)
c.3483G>C (p.Gln1161His)
c.3480G>C (p.Gln1160His)
c.3342G>C (p.Gln1114His)
c.3015G>C (p.Gln1005His)
c.3012G>C (p.Gln1004His)
c.3111G>C (p.Gln1037His)
c.*3039G>C (n.*3039G>C)
c.2106+182680G>C (n.2106+182680G>C)
n.102G>C
 dbSNP
3g.184327387G=CA1425958370EIF2B5,EIF4G1c.3600G= (p.Gln1200=)
c.3534G= (p.Gln1178=)
c.2947G= (n.2947G=)
c.3003G= (p.Gln1001=)
c.3603G= (p.Gln1201=)
c.3108G= (p.Gln1036=)
c.3621G= (p.Gln1207=)
c.3339G= (p.Gln1113=)
c.3483G= (p.Gln1161=)
c.3480G= (p.Gln1160=)
c.3342G= (p.Gln1114=)
c.3015G= (p.Gln1005=)
c.3012G= (p.Gln1004=)
c.3111G= (p.Gln1037=)
c.*3039G= (n.*3039G=)
c.2106+182680G= (n.2106+182680G=)
n.102G=
3g.184327387G>TCA355415216EIF2B5,EIF4G1c.3600G>T (p.Gln1200His)
c.3534G>T (p.Gln1178His)
c.2947G>T (n.2947G>T)
c.3003G>T (p.Gln1001His)
c.3603G>T (p.Gln1201His)
c.3108G>T (p.Gln1036His)
c.3621G>T (p.Gln1207His)
c.3339G>T (p.Gln1113His)
c.3483G>T (p.Gln1161His)
c.3480G>T (p.Gln1160His)
c.3342G>T (p.Gln1114His)
c.3015G>T (p.Gln1005His)
c.3012G>T (p.Gln1004His)
c.3111G>T (p.Gln1037His)
c.*3039G>T (n.*3039G>T)
c.2106+182680G>T (n.2106+182680G>T)
n.102G>T
3g.184327388C>ACA355415220EIF2B5,EIF4G1c.3601C>A (p.Pro1201Thr)
c.3535C>A (p.Pro1179Thr)
c.2948C>A (n.2948C>A)
c.3004C>A (p.Pro1002Thr)
c.3604C>A (p.Pro1202Thr)
c.3109C>A (p.Pro1037Thr)
c.3622C>A (p.Pro1208Thr)
c.3340C>A (p.Pro1114Thr)
c.3484C>A (p.Pro1162Thr)
c.3481C>A (p.Pro1161Thr)
c.3343C>A (p.Pro1115Thr)
c.3016C>A (p.Pro1006Thr)
c.3013C>A (p.Pro1005Thr)
c.3112C>A (p.Pro1038Thr)
c.*3040C>A (n.*3040C>A)
c.2106+182681C>A (n.2106+182681C>A)
n.103C>A
3g.184327388C=CA1425958372EIF2B5,EIF4G1c.3601C= (p.Pro1201=)
c.3535C= (p.Pro1179=)
c.2948C= (n.2948C=)
c.3004C= (p.Pro1002=)
c.3604C= (p.Pro1202=)
c.3109C= (p.Pro1037=)
c.3622C= (p.Pro1208=)
c.3340C= (p.Pro1114=)
c.3484C= (p.Pro1162=)
c.3481C= (p.Pro1161=)
c.3343C= (p.Pro1115=)
c.3016C= (p.Pro1006=)
c.3013C= (p.Pro1005=)
c.3112C= (p.Pro1038=)
c.*3040C= (n.*3040C=)
c.2106+182681C= (n.2106+182681C=)
n.103C=
3g.184327388C>GCA355415221EIF2B5,EIF4G1c.3601C>G (p.Pro1201Ala)
c.3535C>G (p.Pro1179Ala)
c.2948C>G (n.2948C>G)
c.3004C>G (p.Pro1002Ala)
c.3604C>G (p.Pro1202Ala)
c.3109C>G (p.Pro1037Ala)
c.3622C>G (p.Pro1208Ala)
c.3340C>G (p.Pro1114Ala)
c.3484C>G (p.Pro1162Ala)
c.3481C>G (p.Pro1161Ala)
c.3343C>G (p.Pro1115Ala)
c.3016C>G (p.Pro1006Ala)
c.3013C>G (p.Pro1005Ala)
c.3112C>G (p.Pro1038Ala)
c.*3040C>G (n.*3040C>G)
c.2106+182681C>G (n.2106+182681C>G)
n.103C>G
3g.184327388C>TCA355415223EIF2B5,EIF4G1c.3601C>T (p.Pro1201Ser)
c.3535C>T (p.Pro1179Ser)
c.2948C>T (n.2948C>T)
c.3004C>T (p.Pro1002Ser)
c.3604C>T (p.Pro1202Ser)
c.3109C>T (p.Pro1037Ser)
c.3622C>T (p.Pro1208Ser)
c.3340C>T (p.Pro1114Ser)
c.3484C>T (p.Pro1162Ser)
c.3481C>T (p.Pro1161Ser)
c.3343C>T (p.Pro1115Ser)
c.3016C>T (p.Pro1006Ser)
c.3013C>T (p.Pro1005Ser)
c.3112C>T (p.Pro1038Ser)
c.*3040C>T (n.*3040C>T)
c.2106+182681C>T (n.2106+182681C>T)
n.103C>T
 dbSNP gnomAD v3 gnomAD v4
3g.184327389C>ACA355415230EIF2B5,EIF4G1c.3602C>A (p.Pro1201His)
c.3536C>A (p.Pro1179His)
c.2949C>A (n.2949C>A)
c.3005C>A (p.Pro1002His)
c.3605C>A (p.Pro1202His)
c.3110C>A (p.Pro1037His)
c.3623C>A (p.Pro1208His)
c.3341C>A (p.Pro1114His)
c.3485C>A (p.Pro1162His)
c.3482C>A (p.Pro1161His)
c.3344C>A (p.Pro1115His)
c.3017C>A (p.Pro1006His)
c.3014C>A (p.Pro1005His)
c.3113C>A (p.Pro1038His)
c.*3041C>A (n.*3041C>A)
c.2106+182682C>A (n.2106+182682C>A)
n.104C>A
3g.184327389C>GCA355415226EIF2B5,EIF4G1c.3602C>G (p.Pro1201Arg)
c.3536C>G (p.Pro1179Arg)
c.2949C>G (n.2949C>G)
c.3005C>G (p.Pro1002Arg)
c.3605C>G (p.Pro1202Arg)
c.3110C>G (p.Pro1037Arg)
c.3623C>G (p.Pro1208Arg)
c.3341C>G (p.Pro1114Arg)
c.3485C>G (p.Pro1162Arg)
c.3482C>G (p.Pro1161Arg)
c.3344C>G (p.Pro1115Arg)
c.3017C>G (p.Pro1006Arg)
c.3014C>G (p.Pro1005Arg)
c.3113C>G (p.Pro1038Arg)
c.*3041C>G (n.*3041C>G)
c.2106+182682C>G (n.2106+182682C>G)
n.104C>G
 ClinVar
3g.184327389C>TCA355415229EIF2B5,EIF4G1c.3602C>T (p.Pro1201Leu)
c.3536C>T (p.Pro1179Leu)
c.2949C>T (n.2949C>T)
c.3005C>T (p.Pro1002Leu)
c.3605C>T (p.Pro1202Leu)
c.3110C>T (p.Pro1037Leu)
c.3623C>T (p.Pro1208Leu)
c.3341C>T (p.Pro1114Leu)
c.3485C>T (p.Pro1162Leu)
c.3482C>T (p.Pro1161Leu)
c.3344C>T (p.Pro1115Leu)
c.3017C>T (p.Pro1006Leu)
c.3014C>T (p.Pro1005Leu)
c.3113C>T (p.Pro1038Leu)
c.*3041C>T (n.*3041C>T)
c.2106+182682C>T (n.2106+182682C>T)
n.104C>T
3g.184327390T>ACA437330609EIF2B5,EIF4G1c.3603T>A (p.Pro1201=)
c.3537T>A (p.Pro1179=)
c.2950T>A (n.2950T>A)
c.3006T>A (p.Pro1002=)
c.3606T>A (p.Pro1202=)
c.3111T>A (p.Pro1037=)
c.3624T>A (p.Pro1208=)
c.3342T>A (p.Pro1114=)
c.3486T>A (p.Pro1162=)
c.3483T>A (p.Pro1161=)
c.3345T>A (p.Pro1115=)
c.3018T>A (p.Pro1006=)
c.3015T>A (p.Pro1005=)
c.3114T>A (p.Pro1038=)
c.*3042T>A (n.*3042T>A)
c.2106+182683T>A (n.2106+182683T>A)
n.105T>A
3g.184327390T>CCA437330610EIF2B5,EIF4G1c.3603T>C (p.Pro1201=)
c.3537T>C (p.Pro1179=)
c.2950T>C (n.2950T>C)
c.3006T>C (p.Pro1002=)
c.3606T>C (p.Pro1202=)
c.3111T>C (p.Pro1037=)
c.3624T>C (p.Pro1208=)
c.3342T>C (p.Pro1114=)
c.3486T>C (p.Pro1162=)
c.3483T>C (p.Pro1161=)
c.3345T>C (p.Pro1115=)
c.3018T>C (p.Pro1006=)
c.3015T>C (p.Pro1005=)
c.3114T>C (p.Pro1038=)
c.*3042T>C (n.*3042T>C)
c.2106+182683T>C (n.2106+182683T>C)
n.105T>C
 dbSNP gnomAD v2 gnomAD v4
3g.184327390T>GCA437330611EIF2B5,EIF4G1c.3603T>G (p.Pro1201=)
c.3537T>G (p.Pro1179=)
c.2950T>G (n.2950T>G)
c.3006T>G (p.Pro1002=)
c.3606T>G (p.Pro1202=)
c.3111T>G (p.Pro1037=)
c.3624T>G (p.Pro1208=)
c.3342T>G (p.Pro1114=)
c.3486T>G (p.Pro1162=)
c.3483T>G (p.Pro1161=)
c.3345T>G (p.Pro1115=)
c.3018T>G (p.Pro1006=)
c.3015T>G (p.Pro1005=)
c.3114T>G (p.Pro1038=)
c.*3042T>G (n.*3042T>G)
c.2106+182683T>G (n.2106+182683T>G)
n.105T>G
 gnomAD v4
3g.184327390T=CA1425958375EIF2B5,EIF4G1c.3603T= (p.Pro1201=)
c.3537T= (p.Pro1179=)
c.2950T= (n.2950T=)
c.3006T= (p.Pro1002=)
c.3606T= (p.Pro1202=)
c.3111T= (p.Pro1037=)
c.3624T= (p.Pro1208=)
c.3342T= (p.Pro1114=)
c.3486T= (p.Pro1162=)
c.3483T= (p.Pro1161=)
c.3345T= (p.Pro1115=)
c.3018T= (p.Pro1006=)
c.3015T= (p.Pro1005=)
c.3114T= (p.Pro1038=)
c.*3042T= (n.*3042T=)
c.2106+182683T= (n.2106+182683T=)
n.105T=
3g.184327391G>ACA355415231EIF2B5,EIF4G1c.3604G>A (p.Glu1202Lys)
c.3538G>A (p.Glu1180Lys)
c.2951G>A (n.2951G>A)
c.3007G>A (p.Glu1003Lys)
c.3607G>A (p.Glu1203Lys)
c.3112G>A (p.Glu1038Lys)
c.3625G>A (p.Glu1209Lys)
c.3343G>A (p.Glu1115Lys)
c.3487G>A (p.Glu1163Lys)
c.3484G>A (p.Glu1162Lys)
c.3346G>A (p.Glu1116Lys)
c.3019G>A (p.Glu1007Lys)
c.3016G>A (p.Glu1006Lys)
c.3115G>A (p.Glu1039Lys)
c.*3043G>A (n.*3043G>A)
c.2106+182684G>A (n.2106+182684G>A)
n.106G>A
3g.184327391G>CCA355415233EIF2B5,EIF4G1c.3604G>C (p.Glu1202Gln)
c.3538G>C (p.Glu1180Gln)
c.2951G>C (n.2951G>C)
c.3007G>C (p.Glu1003Gln)
c.3607G>C (p.Glu1203Gln)
c.3112G>C (p.Glu1038Gln)
c.3625G>C (p.Glu1209Gln)
c.3343G>C (p.Glu1115Gln)
c.3487G>C (p.Glu1163Gln)
c.3484G>C (p.Glu1162Gln)
c.3346G>C (p.Glu1116Gln)
c.3019G>C (p.Glu1007Gln)
c.3016G>C (p.Glu1006Gln)
c.3115G>C (p.Glu1039Gln)
c.*3043G>C (n.*3043G>C)
c.2106+182684G>C (n.2106+182684G>C)
n.106G>C
 dbSNP gnomAD v2
3g.184327391G=CA1425958380EIF2B5,EIF4G1c.3604G= (p.Glu1202=)
c.3538G= (p.Glu1180=)
c.2951G= (n.2951G=)
c.3007G= (p.Glu1003=)
c.3607G= (p.Glu1203=)
c.3112G= (p.Glu1038=)
c.3625G= (p.Glu1209=)
c.3343G= (p.Glu1115=)
c.3487G= (p.Glu1163=)
c.3484G= (p.Glu1162=)
c.3346G= (p.Glu1116=)
c.3019G= (p.Glu1007=)
c.3016G= (p.Glu1006=)
c.3115G= (p.Glu1039=)
c.*3043G= (n.*3043G=)
c.2106+182684G= (n.2106+182684G=)
n.106G=
3g.184327391G>TCA355415234EIF2B5,EIF4G1c.3604G>T (p.Glu1202Ter)
c.3538G>T (p.Glu1180Ter)
c.2951G>T (n.2951G>T)
c.3007G>T (p.Glu1003Ter)
c.3607G>T (p.Glu1203Ter)
c.3112G>T (p.Glu1038Ter)
c.3625G>T (p.Glu1209Ter)
c.3343G>T (p.Glu1115Ter)
c.3487G>T (p.Glu1163Ter)
c.3484G>T (p.Glu1162Ter)
c.3346G>T (p.Glu1116Ter)
c.3019G>T (p.Glu1007Ter)
c.3016G>T (p.Glu1006Ter)
c.3115G>T (p.Glu1039Ter)
c.*3043G>T (n.*3043G>T)
c.2106+182684G>T (n.2106+182684G>T)
n.106G>T
3g.184327392A>CCA355415236EIF2B5,EIF4G1c.3605A>C (p.Glu1202Ala)
c.3539A>C (p.Glu1180Ala)
c.2952A>C (n.2952A>C)
c.3008A>C (p.Glu1003Ala)
c.3608A>C (p.Glu1203Ala)
c.3113A>C (p.Glu1038Ala)
c.3626A>C (p.Glu1209Ala)
c.3344A>C (p.Glu1115Ala)
c.3488A>C (p.Glu1163Ala)
c.3485A>C (p.Glu1162Ala)
c.3347A>C (p.Glu1116Ala)
c.3020A>C (p.Glu1007Ala)
c.3017A>C (p.Glu1006Ala)
c.3116A>C (p.Glu1039Ala)
c.*3044A>C (n.*3044A>C)
c.2106+182685A>C (n.2106+182685A>C)
n.107A>C
3g.184327392A>GCA355415238EIF2B5,EIF4G1c.3605A>G (p.Glu1202Gly)
c.3539A>G (p.Glu1180Gly)
c.2952A>G (n.2952A>G)
c.3008A>G (p.Glu1003Gly)
c.3608A>G (p.Glu1203Gly)
c.3113A>G (p.Glu1038Gly)
c.3626A>G (p.Glu1209Gly)
c.3344A>G (p.Glu1115Gly)
c.3488A>G (p.Glu1163Gly)
c.3485A>G (p.Glu1162Gly)
c.3347A>G (p.Glu1116Gly)
c.3020A>G (p.Glu1007Gly)
c.3017A>G (p.Glu1006Gly)
c.3116A>G (p.Glu1039Gly)
c.*3044A>G (n.*3044A>G)
c.2106+182685A>G (n.2106+182685A>G)
n.107A>G
3g.184327392A>TCA355415241EIF2B5,EIF4G1c.3605A>T (p.Glu1202Val)
c.3539A>T (p.Glu1180Val)
c.2952A>T (n.2952A>T)
c.3008A>T (p.Glu1003Val)
c.3608A>T (p.Glu1203Val)
c.3113A>T (p.Glu1038Val)
c.3626A>T (p.Glu1209Val)
c.3344A>T (p.Glu1115Val)
c.3488A>T (p.Glu1163Val)
c.3485A>T (p.Glu1162Val)
c.3347A>T (p.Glu1116Val)
c.3020A>T (p.Glu1007Val)
c.3017A>T (p.Glu1006Val)
c.3116A>T (p.Glu1039Val)
c.*3044A>T (n.*3044A>T)
c.2106+182685A>T (n.2106+182685A>T)
n.107A>T
3g.184327393G>ACA437330613EIF2B5,EIF4G1c.3606G>A (p.Glu1202=)
c.3540G>A (p.Glu1180=)
c.2953G>A (n.2953G>A)
c.3009G>A (p.Glu1003=)
c.3609G>A (p.Glu1203=)
c.3114G>A (p.Glu1038=)
c.3627G>A (p.Glu1209=)
c.3345G>A (p.Glu1115=)
c.3489G>A (p.Glu1163=)
c.3486G>A (p.Glu1162=)
c.3348G>A (p.Glu1116=)
c.3021G>A (p.Glu1007=)
c.3018G>A (p.Glu1006=)
c.3117G>A (p.Glu1039=)
c.*3045G>A (n.*3045G>A)
c.2106+182686G>A (n.2106+182686G>A)
n.108G>A
3g.184327393G>CCA355415244EIF2B5,EIF4G1c.3606G>C (p.Glu1202Asp)
c.3540G>C (p.Glu1180Asp)
c.2953G>C (n.2953G>C)
c.3009G>C (p.Glu1003Asp)
c.3609G>C (p.Glu1203Asp)
c.3114G>C (p.Glu1038Asp)
c.3627G>C (p.Glu1209Asp)
c.3345G>C (p.Glu1115Asp)
c.3489G>C (p.Glu1163Asp)
c.3486G>C (p.Glu1162Asp)
c.3348G>C (p.Glu1116Asp)
c.3021G>C (p.Glu1007Asp)
c.3018G>C (p.Glu1006Asp)
c.3117G>C (p.Glu1039Asp)
c.*3045G>C (n.*3045G>C)
c.2106+182686G>C (n.2106+182686G>C)
n.108G>C
3g.184327393G>TCA355415246EIF2B5,EIF4G1c.3606G>T (p.Glu1202Asp)
c.3540G>T (p.Glu1180Asp)
c.2953G>T (n.2953G>T)
c.3009G>T (p.Glu1003Asp)
c.3609G>T (p.Glu1203Asp)
c.3114G>T (p.Glu1038Asp)
c.3627G>T (p.Glu1209Asp)
c.3345G>T (p.Glu1115Asp)
c.3489G>T (p.Glu1163Asp)
c.3486G>T (p.Glu1162Asp)
c.3348G>T (p.Glu1116Asp)
c.3021G>T (p.Glu1007Asp)
c.3018G>T (p.Glu1006Asp)
c.3117G>T (p.Glu1039Asp)
c.*3045G>T (n.*3045G>T)
c.2106+182686G>T (n.2106+182686G>T)
n.108G>T
3g.184327394G>ACA2732854EIF2B5,EIF4G1c.3607G>A (p.Gly1203Arg)
c.3541G>A (p.Gly1181Arg)
c.2954G>A (n.2954G>A)
c.3010G>A (p.Gly1004Arg)
c.3610G>A (p.Gly1204Arg)
c.3115G>A (p.Gly1039Arg)
c.3628G>A (p.Gly1210Arg)
c.3346G>A (p.Gly1116Arg)
c.3490G>A (p.Gly1164Arg)
c.3487G>A (p.Gly1163Arg)
c.3349G>A (p.Gly1117Arg)
c.3022G>A (p.Gly1008Arg)
c.3019G>A (p.Gly1007Arg)
c.3118G>A (p.Gly1040Arg)
c.*3046G>A (n.*3046G>A)
c.2106+182687G>A (n.2106+182687G>A)
n.109G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.184327394G>CCA355415255EIF2B5,EIF4G1c.3607G>C (p.Gly1203Arg)
c.3541G>C (p.Gly1181Arg)
c.2954G>C (n.2954G>C)
c.3010G>C (p.Gly1004Arg)
c.3610G>C (p.Gly1204Arg)
c.3115G>C (p.Gly1039Arg)
c.3628G>C (p.Gly1210Arg)
c.3346G>C (p.Gly1116Arg)
c.3490G>C (p.Gly1164Arg)
c.3487G>C (p.Gly1163Arg)
c.3349G>C (p.Gly1117Arg)
c.3022G>C (p.Gly1008Arg)
c.3019G>C (p.Gly1007Arg)
c.3118G>C (p.Gly1040Arg)
c.*3046G>C (n.*3046G>C)
c.2106+182687G>C (n.2106+182687G>C)
n.109G>C
3g.184327394G=CA1425958384EIF2B5,EIF4G1c.3607G= (p.Gly1203=)
c.3541G= (p.Gly1181=)
c.2954G= (n.2954G=)
c.3010G= (p.Gly1004=)
c.3610G= (p.Gly1204=)
c.3115G= (p.Gly1039=)
c.3628G= (p.Gly1210=)
c.3346G= (p.Gly1116=)
c.3490G= (p.Gly1164=)
c.3487G= (p.Gly1163=)
c.3349G= (p.Gly1117=)
c.3022G= (p.Gly1008=)
c.3019G= (p.Gly1007=)
c.3118G= (p.Gly1040=)
c.*3046G= (n.*3046G=)
c.2106+182687G= (n.2106+182687G=)
n.109G=
3g.184327394G>TCA355415253EIF2B5,EIF4G1c.3607G>T (p.Gly1203Trp)
c.3541G>T (p.Gly1181Trp)
c.2954G>T (n.2954G>T)
c.3010G>T (p.Gly1004Trp)
c.3610G>T (p.Gly1204Trp)
c.3115G>T (p.Gly1039Trp)
c.3628G>T (p.Gly1210Trp)
c.3346G>T (p.Gly1116Trp)
c.3490G>T (p.Gly1164Trp)
c.3487G>T (p.Gly1163Trp)
c.3349G>T (p.Gly1117Trp)
c.3022G>T (p.Gly1008Trp)
c.3019G>T (p.Gly1007Trp)
c.3118G>T (p.Gly1040Trp)
c.*3046G>T (n.*3046G>T)
c.2106+182687G>T (n.2106+182687G>T)
n.109G>T
3g.184327395G>ACA355415257EIF2B5,EIF4G1c.3608G>A (p.Gly1203Glu)
c.3542G>A (p.Gly1181Glu)
c.2955G>A (n.2955G>A)
c.3011G>A (p.Gly1004Glu)
c.3611G>A (p.Gly1204Glu)
c.3116G>A (p.Gly1039Glu)
c.3629G>A (p.Gly1210Glu)
c.3347G>A (p.Gly1116Glu)
c.3491G>A (p.Gly1164Glu)
c.3488G>A (p.Gly1163Glu)
c.3350G>A (p.Gly1117Glu)
c.3023G>A (p.Gly1008Glu)
c.3020G>A (p.Gly1007Glu)
c.3119G>A (p.Gly1040Glu)
c.*3047G>A (n.*3047G>A)
c.2106+182688G>A (n.2106+182688G>A)
n.110G>A
 gnomAD v4
3g.184327395G>CCA355415261EIF2B5,EIF4G1c.3608G>C (p.Gly1203Ala)
c.3542G>C (p.Gly1181Ala)
c.2955G>C (n.2955G>C)
c.3011G>C (p.Gly1004Ala)
c.3611G>C (p.Gly1204Ala)
c.3116G>C (p.Gly1039Ala)
c.3629G>C (p.Gly1210Ala)
c.3347G>C (p.Gly1116Ala)
c.3491G>C (p.Gly1164Ala)
c.3488G>C (p.Gly1163Ala)
c.3350G>C (p.Gly1117Ala)
c.3023G>C (p.Gly1008Ala)
c.3020G>C (p.Gly1007Ala)
c.3119G>C (p.Gly1040Ala)
c.*3047G>C (n.*3047G>C)
c.2106+182688G>C (n.2106+182688G>C)
n.110G>C
3g.184327395G>TCA355415259EIF2B5,EIF4G1c.3608G>T (p.Gly1203Val)
c.3542G>T (p.Gly1181Val)
c.2955G>T (n.2955G>T)
c.3011G>T (p.Gly1004Val)
c.3611G>T (p.Gly1204Val)
c.3116G>T (p.Gly1039Val)
c.3629G>T (p.Gly1210Val)
c.3347G>T (p.Gly1116Val)
c.3491G>T (p.Gly1164Val)
c.3488G>T (p.Gly1163Val)
c.3350G>T (p.Gly1117Val)
c.3023G>T (p.Gly1008Val)
c.3020G>T (p.Gly1007Val)
c.3119G>T (p.Gly1040Val)
c.*3047G>T (n.*3047G>T)
c.2106+182688G>T (n.2106+182688G>T)
n.110G>T
3g.184327396G>ACA437330616EIF2B5,EIF4G1c.3609G>A (p.Gly1203=)
c.3543G>A (p.Gly1181=)
c.2956G>A (n.2956G>A)
c.3012G>A (p.Gly1004=)
c.3612G>A (p.Gly1204=)
c.3117G>A (p.Gly1039=)
c.3630G>A (p.Gly1210=)
c.3348G>A (p.Gly1116=)
c.3492G>A (p.Gly1164=)
c.3489G>A (p.Gly1163=)
c.3351G>A (p.Gly1117=)
c.3024G>A (p.Gly1008=)
c.3021G>A (p.Gly1007=)
c.3120G>A (p.Gly1040=)
c.*3048G>A (n.*3048G>A)
c.2106+182689G>A (n.2106+182689G>A)
n.111G>A
 gnomAD v4
3g.184327396G>CCA437330617EIF2B5,EIF4G1c.3609G>C (p.Gly1203=)
c.3543G>C (p.Gly1181=)
c.2956G>C (n.2956G>C)
c.3012G>C (p.Gly1004=)
c.3612G>C (p.Gly1204=)
c.3117G>C (p.Gly1039=)
c.3630G>C (p.Gly1210=)
c.3348G>C (p.Gly1116=)
c.3492G>C (p.Gly1164=)
c.3489G>C (p.Gly1163=)
c.3351G>C (p.Gly1117=)
c.3024G>C (p.Gly1008=)
c.3021G>C (p.Gly1007=)
c.3120G>C (p.Gly1040=)
c.*3048G>C (n.*3048G>C)
c.2106+182689G>C (n.2106+182689G>C)
n.111G>C
3g.184327396G>TCA437330615EIF2B5,EIF4G1c.3609G>T (p.Gly1203=)
c.3543G>T (p.Gly1181=)
c.2956G>T (n.2956G>T)
c.3012G>T (p.Gly1004=)
c.3612G>T (p.Gly1204=)
c.3117G>T (p.Gly1039=)
c.3630G>T (p.Gly1210=)
c.3348G>T (p.Gly1116=)
c.3492G>T (p.Gly1164=)
c.3489G>T (p.Gly1163=)
c.3351G>T (p.Gly1117=)
c.3024G>T (p.Gly1008=)
c.3021G>T (p.Gly1007=)
c.3120G>T (p.Gly1040=)
c.*3048G>T (n.*3048G>T)
c.2106+182689G>T (n.2106+182689G>T)
n.111G>T
 gnomAD v4
3g.184327397C>ACA355415265EIF2B5,EIF4G1c.3610C>A (p.Leu1204Met)
c.3544C>A (p.Leu1182Met)
c.2957C>A (n.2957C>A)
c.3013C>A (p.Leu1005Met)
c.3613C>A (p.Leu1205Met)
c.3118C>A (p.Leu1040Met)
c.3631C>A (p.Leu1211Met)
c.3349C>A (p.Leu1117Met)
c.3493C>A (p.Leu1165Met)
c.3490C>A (p.Leu1164Met)
c.3352C>A (p.Leu1118Met)
c.3025C>A (p.Leu1009Met)
c.3022C>A (p.Leu1008Met)
c.3121C>A (p.Leu1041Met)
c.*3049C>A (n.*3049C>A)
c.2106+182690C>A (n.2106+182690C>A)
n.112C>A
3g.184327397C>GCA355415267EIF2B5,EIF4G1c.3610C>G (p.Leu1204Val)
c.3544C>G (p.Leu1182Val)
c.2957C>G (n.2957C>G)
c.3013C>G (p.Leu1005Val)
c.3613C>G (p.Leu1205Val)
c.3118C>G (p.Leu1040Val)
c.3631C>G (p.Leu1211Val)
c.3349C>G (p.Leu1117Val)
c.3493C>G (p.Leu1165Val)
c.3490C>G (p.Leu1164Val)
c.3352C>G (p.Leu1118Val)
c.3025C>G (p.Leu1009Val)
c.3022C>G (p.Leu1008Val)
c.3121C>G (p.Leu1041Val)
c.*3049C>G (n.*3049C>G)
c.2106+182690C>G (n.2106+182690C>G)
n.112C>G
3g.184327397C>TCA437330618EIF2B5,EIF4G1c.3610C>T (p.Leu1204=)
c.3544C>T (p.Leu1182=)
c.2957C>T (n.2957C>T)
c.3013C>T (p.Leu1005=)
c.3613C>T (p.Leu1205=)
c.3118C>T (p.Leu1040=)
c.3631C>T (p.Leu1211=)
c.3349C>T (p.Leu1117=)
c.3493C>T (p.Leu1165=)
c.3490C>T (p.Leu1164=)
c.3352C>T (p.Leu1118=)
c.3025C>T (p.Leu1009=)
c.3022C>T (p.Leu1008=)
c.3121C>T (p.Leu1041=)
c.*3049C>T (n.*3049C>T)
c.2106+182690C>T (n.2106+182690C>T)
n.112C>T
 gnomAD v4
3g.184327398T>ACA355415269EIF2B5,EIF4G1c.3611T>A (p.Leu1204Gln)
c.3545T>A (p.Leu1182Gln)
c.2958T>A (n.2958T>A)
c.3014T>A (p.Leu1005Gln)
c.3614T>A (p.Leu1205Gln)
c.3119T>A (p.Leu1040Gln)
c.3632T>A (p.Leu1211Gln)
c.3350T>A (p.Leu1117Gln)
c.3494T>A (p.Leu1165Gln)
c.3491T>A (p.Leu1164Gln)
c.3353T>A (p.Leu1118Gln)
c.3026T>A (p.Leu1009Gln)
c.3023T>A (p.Leu1008Gln)
c.3122T>A (p.Leu1041Gln)
c.*3050T>A (n.*3050T>A)
c.2106+182691T>A (n.2106+182691T>A)
n.113T>A
3g.184327398T>CCA2732855EIF2B5,EIF4G1c.3611T>C (p.Leu1204Pro)
c.3545T>C (p.Leu1182Pro)
c.2958T>C (n.2958T>C)
c.3014T>C (p.Leu1005Pro)
c.3614T>C (p.Leu1205Pro)
c.3119T>C (p.Leu1040Pro)
c.3632T>C (p.Leu1211Pro)
c.3350T>C (p.Leu1117Pro)
c.3494T>C (p.Leu1165Pro)
c.3491T>C (p.Leu1164Pro)
c.3353T>C (p.Leu1118Pro)
c.3026T>C (p.Leu1009Pro)
c.3023T>C (p.Leu1008Pro)
c.3122T>C (p.Leu1041Pro)
c.*3050T>C (n.*3050T>C)
c.2106+182691T>C (n.2106+182691T>C)
n.113T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.184327398T>GCA355415272EIF2B5,EIF4G1c.3611T>G (p.Leu1204Arg)
c.3545T>G (p.Leu1182Arg)
c.2958T>G (n.2958T>G)
c.3014T>G (p.Leu1005Arg)
c.3614T>G (p.Leu1205Arg)
c.3119T>G (p.Leu1040Arg)
c.3632T>G (p.Leu1211Arg)
c.3350T>G (p.Leu1117Arg)
c.3494T>G (p.Leu1165Arg)
c.3491T>G (p.Leu1164Arg)
c.3353T>G (p.Leu1118Arg)
c.3026T>G (p.Leu1009Arg)
c.3023T>G (p.Leu1008Arg)
c.3122T>G (p.Leu1041Arg)
c.*3050T>G (n.*3050T>G)
c.2106+182691T>G (n.2106+182691T>G)
n.113T>G
3g.184327398T=CA1425958390EIF2B5,EIF4G1c.3611T= (p.Leu1204=)
c.3545T= (p.Leu1182=)
c.2958T= (n.2958T=)
c.3014T= (p.Leu1005=)
c.3614T= (p.Leu1205=)
c.3119T= (p.Leu1040=)
c.3632T= (p.Leu1211=)
c.3350T= (p.Leu1117=)
c.3494T= (p.Leu1165=)
c.3491T= (p.Leu1164=)
c.3353T= (p.Leu1118=)
c.3026T= (p.Leu1009=)
c.3023T= (p.Leu1008=)
c.3122T= (p.Leu1041=)
c.*3050T= (n.*3050T=)
c.2106+182691T= (n.2106+182691T=)
n.113T=
3g.184327399G>ACA437330619EIF2B5,EIF4G1c.3612G>A (p.Leu1204=)
c.3546G>A (p.Leu1182=)
c.2959G>A (n.2959G>A)
c.3015G>A (p.Leu1005=)
c.3615G>A (p.Leu1205=)
c.3120G>A (p.Leu1040=)
c.3633G>A (p.Leu1211=)
c.3351G>A (p.Leu1117=)
c.3495G>A (p.Leu1165=)
c.3492G>A (p.Leu1164=)
c.3354G>A (p.Leu1118=)
c.3027G>A (p.Leu1009=)
c.3024G>A (p.Leu1008=)
c.3123G>A (p.Leu1041=)
c.*3051G>A (n.*3051G>A)
c.2106+182692G>A (n.2106+182692G>A)
n.114G>A
3g.184327399G>CCA437330620EIF2B5,EIF4G1c.3612G>C (p.Leu1204=)
c.3546G>C (p.Leu1182=)
c.2959G>C (n.2959G>C)
c.3015G>C (p.Leu1005=)
c.3615G>C (p.Leu1205=)
c.3120G>C (p.Leu1040=)
c.3633G>C (p.Leu1211=)
c.3351G>C (p.Leu1117=)
c.3495G>C (p.Leu1165=)
c.3492G>C (p.Leu1164=)
c.3354G>C (p.Leu1118=)
c.3027G>C (p.Leu1009=)
c.3024G>C (p.Leu1008=)
c.3123G>C (p.Leu1041=)
c.*3051G>C (n.*3051G>C)
c.2106+182692G>C (n.2106+182692G>C)
n.114G>C
3g.184327399G>TCA437330621EIF2B5,EIF4G1c.3612G>T (p.Leu1204=)
c.3546G>T (p.Leu1182=)
c.2959G>T (n.2959G>T)
c.3015G>T (p.Leu1005=)
c.3615G>T (p.Leu1205=)
c.3120G>T (p.Leu1040=)
c.3633G>T (p.Leu1211=)
c.3351G>T (p.Leu1117=)
c.3495G>T (p.Leu1165=)
c.3492G>T (p.Leu1164=)
c.3354G>T (p.Leu1118=)
c.3027G>T (p.Leu1009=)
c.3024G>T (p.Leu1008=)
c.3123G>T (p.Leu1041=)
c.*3051G>T (n.*3051G>T)
c.2106+182692G>T (n.2106+182692G>T)
n.114G>T
3g.184327400C>ACA355415276EIF2B5,EIF4G1c.3613C>A (p.Arg1205Ser)
c.3547C>A (p.Arg1183Ser)
c.2960C>A (n.2960C>A)
c.3016C>A (p.Arg1006Ser)
c.3616C>A (p.Arg1206Ser)
c.3121C>A (p.Arg1041Ser)
c.3634C>A (p.Arg1212Ser)
c.3352C>A (p.Arg1118Ser)
c.3496C>A (p.Arg1166Ser)
c.3493C>A (p.Arg1165Ser)
c.3355C>A (p.Arg1119Ser)
c.3028C>A (p.Arg1010Ser)
c.3025C>A (p.Arg1009Ser)
c.3124C>A (p.Arg1042Ser)
c.*3052C>A (n.*3052C>A)
c.2106+182693C>A (n.2106+182693C>A)
n.115C>A
3g.184327400C=CA1425958392EIF2B5,EIF4G1c.3613C= (p.Arg1205=)
c.3547C= (p.Arg1183=)
c.2960C= (n.2960C=)
c.3016C= (p.Arg1006=)
c.3616C= (p.Arg1206=)
c.3121C= (p.Arg1041=)
c.3634C= (p.Arg1212=)
c.3352C= (p.Arg1118=)
c.3496C= (p.Arg1166=)
c.3493C= (p.Arg1165=)
c.3355C= (p.Arg1119=)
c.3028C= (p.Arg1010=)
c.3025C= (p.Arg1009=)
c.3124C= (p.Arg1042=)
c.*3052C= (n.*3052C=)
c.2106+182693C= (n.2106+182693C=)
n.115C=
3g.184327400C>GCA355415278EIF2B5,EIF4G1c.3613C>G (p.Arg1205Gly)
c.3547C>G (p.Arg1183Gly)
c.2960C>G (n.2960C>G)
c.3016C>G (p.Arg1006Gly)
c.3616C>G (p.Arg1206Gly)
c.3121C>G (p.Arg1041Gly)
c.3634C>G (p.Arg1212Gly)
c.3352C>G (p.Arg1118Gly)
c.3496C>G (p.Arg1166Gly)
c.3493C>G (p.Arg1165Gly)
c.3355C>G (p.Arg1119Gly)
c.3028C>G (p.Arg1010Gly)
c.3025C>G (p.Arg1009Gly)
c.3124C>G (p.Arg1042Gly)
c.*3052C>G (n.*3052C>G)
c.2106+182693C>G (n.2106+182693C>G)
n.115C>G
3g.184327400C>TCA2732856EIF2B5,EIF4G1c.3613C>T (p.Arg1205Cys)
c.3547C>T (p.Arg1183Cys)
c.2960C>T (n.2960C>T)
c.3016C>T (p.Arg1006Cys)
c.3616C>T (p.Arg1206Cys)
c.3121C>T (p.Arg1041Cys)
c.3634C>T (p.Arg1212Cys)
c.3352C>T (p.Arg1118Cys)
c.3496C>T (p.Arg1166Cys)
c.3493C>T (p.Arg1165Cys)
c.3355C>T (p.Arg1119Cys)
c.3028C>T (p.Arg1010Cys)
c.3025C>T (p.Arg1009Cys)
c.3124C>T (p.Arg1042Cys)
c.*3052C>T (n.*3052C>T)
c.2106+182693C>T (n.2106+182693C>T)
n.115C>T
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
3g.184327401G>ACA128909EIF2B5,EIF4G1c.3614G>A (p.Arg1205His)
c.3548G>A (p.Arg1183His)
c.2961G>A (n.2961G>A)
c.3017G>A (p.Arg1006His)
c.3617G>A (p.Arg1206His)
c.3122G>A (p.Arg1041His)
c.3635G>A (p.Arg1212His)
c.3353G>A (p.Arg1118His)
c.3497G>A (p.Arg1166His)
c.3494G>A (p.Arg1165His)
c.3356G>A (p.Arg1119His)
c.3029G>A (p.Arg1010His)
c.3026G>A (p.Arg1009His)
c.3125G>A (p.Arg1042His)
c.*3053G>A (n.*3053G>A)
c.2106+182694G>A (n.2106+182694G>A)
n.116G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.184327401G>CCA355415286EIF2B5,EIF4G1c.3614G>C (p.Arg1205Pro)
c.3548G>C (p.Arg1183Pro)
c.2961G>C (n.2961G>C)
c.3017G>C (p.Arg1006Pro)
c.3617G>C (p.Arg1206Pro)
c.3122G>C (p.Arg1041Pro)
c.3635G>C (p.Arg1212Pro)
c.3353G>C (p.Arg1118Pro)
c.3497G>C (p.Arg1166Pro)
c.3494G>C (p.Arg1165Pro)
c.3356G>C (p.Arg1119Pro)
c.3029G>C (p.Arg1010Pro)
c.3026G>C (p.Arg1009Pro)
c.3125G>C (p.Arg1042Pro)
c.*3053G>C (n.*3053G>C)
c.2106+182694G>C (n.2106+182694G>C)
n.116G>C
3g.184327401G=CA1425958399EIF2B5,EIF4G1c.3614G= (p.Arg1205=)
c.3548G= (p.Arg1183=)
c.2961G= (n.2961G=)
c.3017G= (p.Arg1006=)
c.3617G= (p.Arg1206=)
c.3122G= (p.Arg1041=)
c.3635G= (p.Arg1212=)
c.3353G= (p.Arg1118=)
c.3497G= (p.Arg1166=)
c.3494G= (p.Arg1165=)
c.3356G= (p.Arg1119=)
c.3029G= (p.Arg1010=)
c.3026G= (p.Arg1009=)
c.3125G= (p.Arg1042=)
c.*3053G= (n.*3053G=)
c.2106+182694G= (n.2106+182694G=)
n.116G=
3g.184327401G>TCA355415284EIF2B5,EIF4G1c.3614G>T (p.Arg1205Leu)
c.3548G>T (p.Arg1183Leu)
c.2961G>T (n.2961G>T)
c.3017G>T (p.Arg1006Leu)
c.3617G>T (p.Arg1206Leu)
c.3122G>T (p.Arg1041Leu)
c.3635G>T (p.Arg1212Leu)
c.3353G>T (p.Arg1118Leu)
c.3497G>T (p.Arg1166Leu)
c.3494G>T (p.Arg1165Leu)
c.3356G>T (p.Arg1119Leu)
c.3029G>T (p.Arg1010Leu)
c.3026G>T (p.Arg1009Leu)
c.3125G>T (p.Arg1042Leu)
c.*3053G>T (n.*3053G>T)
c.2106+182694G>T (n.2106+182694G>T)
n.116G>T
 dbSNP gnomAD v4
3g.184327402C>ACA437330627EIF2B5,EIF4G1c.3615C>A (p.Arg1205=)
c.3549C>A (p.Arg1183=)
c.2962C>A (n.2962C>A)
c.3018C>A (p.Arg1006=)
c.3618C>A (p.Arg1206=)
c.3123C>A (p.Arg1041=)
c.3636C>A (p.Arg1212=)
c.3354C>A (p.Arg1118=)
c.3498C>A (p.Arg1166=)
c.3495C>A (p.Arg1165=)
c.3357C>A (p.Arg1119=)
c.3030C>A (p.Arg1010=)
c.3027C>A (p.Arg1009=)
c.3126C>A (p.Arg1042=)
c.*3054C>A (n.*3054C>A)
c.2106+182695C>A (n.2106+182695C>A)
n.117C>A
3g.184327402C=CA1425958407EIF2B5,EIF4G1c.3615C= (p.Arg1205=)
c.3549C= (p.Arg1183=)
c.2962C= (n.2962C=)
c.3018C= (p.Arg1006=)
c.3618C= (p.Arg1206=)
c.3123C= (p.Arg1041=)
c.3636C= (p.Arg1212=)
c.3354C= (p.Arg1118=)
c.3498C= (p.Arg1166=)
c.3495C= (p.Arg1165=)
c.3357C= (p.Arg1119=)
c.3030C= (p.Arg1010=)
c.3027C= (p.Arg1009=)
c.3126C= (p.Arg1042=)
c.*3054C= (n.*3054C=)
c.2106+182695C= (n.2106+182695C=)
n.117C=
3g.184327402C>GCA437330626EIF2B5,EIF4G1c.3615C>G (p.Arg1205=)
c.3549C>G (p.Arg1183=)
c.2962C>G (n.2962C>G)
c.3018C>G (p.Arg1006=)
c.3618C>G (p.Arg1206=)
c.3123C>G (p.Arg1041=)
c.3636C>G (p.Arg1212=)
c.3354C>G (p.Arg1118=)
c.3498C>G (p.Arg1166=)
c.3495C>G (p.Arg1165=)
c.3357C>G (p.Arg1119=)
c.3030C>G (p.Arg1010=)
c.3027C>G (p.Arg1009=)
c.3126C>G (p.Arg1042=)
c.*3054C>G (n.*3054C>G)
c.2106+182695C>G (n.2106+182695C>G)
n.117C>G
3g.184327402C>TCA2732857EIF2B5,EIF4G1c.3615C>T (p.Arg1205=)
c.3549C>T (p.Arg1183=)
c.2962C>T (n.2962C>T)
c.3018C>T (p.Arg1006=)
c.3618C>T (p.Arg1206=)
c.3123C>T (p.Arg1041=)
c.3636C>T (p.Arg1212=)
c.3354C>T (p.Arg1118=)
c.3498C>T (p.Arg1166=)
c.3495C>T (p.Arg1165=)
c.3357C>T (p.Arg1119=)
c.3030C>T (p.Arg1010=)
c.3027C>T (p.Arg1009=)
c.3126C>T (p.Arg1042=)
c.*3054C>T (n.*3054C>T)
c.2106+182695C>T (n.2106+182695C>T)
n.117C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.184327403A=CA1425958410EIF2B5,EIF4G1c.3616A= (p.Lys1206=)
c.3550A= (p.Lys1184=)
c.2963A= (n.2963A=)
c.3019A= (p.Lys1007=)
c.3619A= (p.Lys1207=)
c.3124A= (p.Lys1042=)
c.3637A= (p.Lys1213=)
c.3355A= (p.Lys1119=)
c.3499A= (p.Lys1167=)
c.3496A= (p.Lys1166=)
c.3358A= (p.Lys1120=)
c.3031A= (p.Lys1011=)
c.3028A= (p.Lys1010=)
c.3127A= (p.Lys1043=)
c.*3055A= (n.*3055A=)
c.2106+182696A= (n.2106+182696A=)
n.118A=
3g.184327403A>CCA355415293EIF2B5,EIF4G1c.3616A>C (p.Lys1206Gln)
c.3550A>C (p.Lys1184Gln)
c.2963A>C (n.2963A>C)
c.3019A>C (p.Lys1007Gln)
c.3619A>C (p.Lys1207Gln)
c.3124A>C (p.Lys1042Gln)
c.3637A>C (p.Lys1213Gln)
c.3355A>C (p.Lys1119Gln)
c.3499A>C (p.Lys1167Gln)
c.3496A>C (p.Lys1166Gln)
c.3358A>C (p.Lys1120Gln)
c.3031A>C (p.Lys1011Gln)
c.3028A>C (p.Lys1010Gln)
c.3127A>C (p.Lys1043Gln)
c.*3055A>C (n.*3055A>C)
c.2106+182696A>C (n.2106+182696A>C)
n.118A>C
3g.184327403A>GCA88867659EIF2B5,EIF4G1c.3616A>G (p.Lys1206Glu)
c.3550A>G (p.Lys1184Glu)
c.2963A>G (n.2963A>G)
c.3019A>G (p.Lys1007Glu)
c.3619A>G (p.Lys1207Glu)
c.3124A>G (p.Lys1042Glu)
c.3637A>G (p.Lys1213Glu)
c.3355A>G (p.Lys1119Glu)
c.3499A>G (p.Lys1167Glu)
c.3496A>G (p.Lys1166Glu)
c.3358A>G (p.Lys1120Glu)
c.3031A>G (p.Lys1011Glu)
c.3028A>G (p.Lys1010Glu)
c.3127A>G (p.Lys1043Glu)
c.*3055A>G (n.*3055A>G)
c.2106+182696A>G (n.2106+182696A>G)
n.118A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.184327403A>TCA355415296EIF2B5,EIF4G1c.3616A>T (p.Lys1206Ter)
c.3550A>T (p.Lys1184Ter)
c.2963A>T (n.2963A>T)
c.3019A>T (p.Lys1007Ter)
c.3619A>T (p.Lys1207Ter)
c.3124A>T (p.Lys1042Ter)
c.3637A>T (p.Lys1213Ter)
c.3355A>T (p.Lys1119Ter)
c.3499A>T (p.Lys1167Ter)
c.3496A>T (p.Lys1166Ter)
c.3358A>T (p.Lys1120Ter)
c.3031A>T (p.Lys1011Ter)
c.3028A>T (p.Lys1010Ter)
c.3127A>T (p.Lys1043Ter)
c.*3055A>T (n.*3055A>T)
c.2106+182696A>T (n.2106+182696A>T)
n.118A>T
3g.184327404A>CCA355415300EIF2B5,EIF4G1c.3617A>C (p.Lys1206Thr)
c.3551A>C (p.Lys1184Thr)
c.2964A>C (n.2964A>C)
c.3020A>C (p.Lys1007Thr)
c.3620A>C (p.Lys1207Thr)
c.3125A>C (p.Lys1042Thr)
c.3638A>C (p.Lys1213Thr)
c.3356A>C (p.Lys1119Thr)
c.3500A>C (p.Lys1167Thr)
c.3497A>C (p.Lys1166Thr)
c.3359A>C (p.Lys1120Thr)
c.3032A>C (p.Lys1011Thr)
c.3029A>C (p.Lys1010Thr)
c.3128A>C (p.Lys1043Thr)
c.*3056A>C (n.*3056A>C)
c.2106+182697A>C (n.2106+182697A>C)
n.119A>C
3g.184327404A>GCA355415304EIF2B5,EIF4G1c.3617A>G (p.Lys1206Arg)
c.3551A>G (p.Lys1184Arg)
c.2964A>G (n.2964A>G)
c.3020A>G (p.Lys1007Arg)
c.3620A>G (p.Lys1207Arg)
c.3125A>G (p.Lys1042Arg)
c.3638A>G (p.Lys1213Arg)
c.3356A>G (p.Lys1119Arg)
c.3500A>G (p.Lys1167Arg)
c.3497A>G (p.Lys1166Arg)
c.3359A>G (p.Lys1120Arg)
c.3032A>G (p.Lys1011Arg)
c.3029A>G (p.Lys1010Arg)
c.3128A>G (p.Lys1043Arg)
c.*3056A>G (n.*3056A>G)
c.2106+182697A>G (n.2106+182697A>G)
n.119A>G
3g.184327404A>TCA355415306EIF2B5,EIF4G1c.3617A>T (p.Lys1206Met)
c.3551A>T (p.Lys1184Met)
c.2964A>T (n.2964A>T)
c.3020A>T (p.Lys1007Met)
c.3620A>T (p.Lys1207Met)
c.3125A>T (p.Lys1042Met)
c.3638A>T (p.Lys1213Met)
c.3356A>T (p.Lys1119Met)
c.3500A>T (p.Lys1167Met)
c.3497A>T (p.Lys1166Met)
c.3359A>T (p.Lys1120Met)
c.3032A>T (p.Lys1011Met)
c.3029A>T (p.Lys1010Met)
c.3128A>T (p.Lys1043Met)
c.*3056A>T (n.*3056A>T)
c.2106+182697A>T (n.2106+182697A>T)
n.119A>T
3g.184327405G>ACA88867665EIF2B5,EIF4G1c.3618G>A (p.Lys1206=)
c.3552G>A (p.Lys1184=)
c.2965G>A (n.2965G>A)
c.3021G>A (p.Lys1007=)
c.3621G>A (p.Lys1207=)
c.3126G>A (p.Lys1042=)
c.3639G>A (p.Lys1213=)
c.3357G>A (p.Lys1119=)
c.3501G>A (p.Lys1167=)
c.3498G>A (p.Lys1166=)
c.3360G>A (p.Lys1120=)
c.3033G>A (p.Lys1011=)
c.3030G>A (p.Lys1010=)
c.3129G>A (p.Lys1043=)
c.*3057G>A (n.*3057G>A)
c.2106+182698G>A (n.2106+182698G>A)
n.120G>A
 dbSNP
3g.184327405G>CCA355415314EIF2B5,EIF4G1c.3618G>C (p.Lys1206Asn)
c.3552G>C (p.Lys1184Asn)
c.2965G>C (n.2965G>C)
c.3021G>C (p.Lys1007Asn)
c.3621G>C (p.Lys1207Asn)
c.3126G>C (p.Lys1042Asn)
c.3639G>C (p.Lys1213Asn)
c.3357G>C (p.Lys1119Asn)
c.3501G>C (p.Lys1167Asn)
c.3498G>C (p.Lys1166Asn)
c.3360G>C (p.Lys1120Asn)
c.3033G>C (p.Lys1011Asn)
c.3030G>C (p.Lys1010Asn)
c.3129G>C (p.Lys1043Asn)
c.*3057G>C (n.*3057G>C)
c.2106+182698G>C (n.2106+182698G>C)
n.120G>C
3g.184327405G=CA1425958413EIF2B5,EIF4G1c.3618G= (p.Lys1206=)
c.3552G= (p.Lys1184=)
c.2965G= (n.2965G=)
c.3021G= (p.Lys1007=)
c.3621G= (p.Lys1207=)
c.3126G= (p.Lys1042=)
c.3639G= (p.Lys1213=)
c.3357G= (p.Lys1119=)
c.3501G= (p.Lys1167=)
c.3498G= (p.Lys1166=)
c.3360G= (p.Lys1120=)
c.3033G= (p.Lys1011=)
c.3030G= (p.Lys1010=)
c.3129G= (p.Lys1043=)
c.*3057G= (n.*3057G=)
c.2106+182698G= (n.2106+182698G=)
n.120G=
3g.184327405G>TCA355415312EIF2B5,EIF4G1c.3618G>T (p.Lys1206Asn)
c.3552G>T (p.Lys1184Asn)
c.2965G>T (n.2965G>T)
c.3021G>T (p.Lys1007Asn)
c.3621G>T (p.Lys1207Asn)
c.3126G>T (p.Lys1042Asn)
c.3639G>T (p.Lys1213Asn)
c.3357G>T (p.Lys1119Asn)
c.3501G>T (p.Lys1167Asn)
c.3498G>T (p.Lys1166Asn)
c.3360G>T (p.Lys1120Asn)
c.3033G>T (p.Lys1011Asn)
c.3030G>T (p.Lys1010Asn)
c.3129G>T (p.Lys1043Asn)
c.*3057G>T (n.*3057G>T)
c.2106+182698G>T (n.2106+182698G>T)
n.120G>T
3g.184327406G>ACA355415316EIF2B5,EIF4G1c.3619G>A (p.Ala1207Thr)
c.3553G>A (p.Ala1185Thr)
c.2966G>A (n.2966G>A)
c.3022G>A (p.Ala1008Thr)
c.3622G>A (p.Ala1208Thr)
c.3127G>A (p.Ala1043Thr)
c.3640G>A (p.Ala1214Thr)
c.3358G>A (p.Ala1120Thr)
c.3502G>A (p.Ala1168Thr)
c.3499G>A (p.Ala1167Thr)
c.3361G>A (p.Ala1121Thr)
c.3034G>A (p.Ala1012Thr)
c.3031G>A (p.Ala1011Thr)
c.3130G>A (p.Ala1044Thr)
c.*3058G>A (n.*3058G>A)
c.2106+182699G>A (n.2106+182699G>A)
n.121G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.184327406G>CCA355415317EIF2B5,EIF4G1c.3619G>C (p.Ala1207Pro)
c.3553G>C (p.Ala1185Pro)
c.2966G>C (n.2966G>C)
c.3022G>C (p.Ala1008Pro)
c.3622G>C (p.Ala1208Pro)
c.3127G>C (p.Ala1043Pro)
c.3640G>C (p.Ala1214Pro)
c.3358G>C (p.Ala1120Pro)
c.3502G>C (p.Ala1168Pro)
c.3499G>C (p.Ala1167Pro)
c.3361G>C (p.Ala1121Pro)
c.3034G>C (p.Ala1012Pro)
c.3031G>C (p.Ala1011Pro)
c.3130G>C (p.Ala1044Pro)
c.*3058G>C (n.*3058G>C)
c.2106+182699G>C (n.2106+182699G>C)
n.121G>C
 gnomAD v4
3g.184327406G=CA1425958416EIF2B5,EIF4G1c.3619G= (p.Ala1207=)
c.3553G= (p.Ala1185=)
c.2966G= (n.2966G=)
c.3022G= (p.Ala1008=)
c.3622G= (p.Ala1208=)
c.3127G= (p.Ala1043=)
c.3640G= (p.Ala1214=)
c.3358G= (p.Ala1120=)
c.3502G= (p.Ala1168=)
c.3499G= (p.Ala1167=)
c.3361G= (p.Ala1121=)
c.3034G= (p.Ala1012=)
c.3031G= (p.Ala1011=)
c.3130G= (p.Ala1044=)
c.*3058G= (n.*3058G=)
c.2106+182699G= (n.2106+182699G=)
n.121G=
3g.184327406G>TCA355415320EIF2B5,EIF4G1c.3619G>T (p.Ala1207Ser)
c.3553G>T (p.Ala1185Ser)
c.2966G>T (n.2966G>T)
c.3022G>T (p.Ala1008Ser)
c.3622G>T (p.Ala1208Ser)
c.3127G>T (p.Ala1043Ser)
c.3640G>T (p.Ala1214Ser)
c.3358G>T (p.Ala1120Ser)
c.3502G>T (p.Ala1168Ser)
c.3499G>T (p.Ala1167Ser)
c.3361G>T (p.Ala1121Ser)
c.3034G>T (p.Ala1012Ser)
c.3031G>T (p.Ala1011Ser)
c.3130G>T (p.Ala1044Ser)
c.*3058G>T (n.*3058G>T)
c.2106+182699G>T (n.2106+182699G>T)
n.121G>T
3g.184327407C>ACA355415323EIF2B5,EIF4G1c.3620C>A (p.Ala1207Glu)
c.3554C>A (p.Ala1185Glu)
c.2967C>A (n.2967C>A)
c.3023C>A (p.Ala1008Glu)
c.3623C>A (p.Ala1208Glu)
c.3128C>A (p.Ala1043Glu)
c.3641C>A (p.Ala1214Glu)
c.3359C>A (p.Ala1120Glu)
c.3503C>A (p.Ala1168Glu)
c.3500C>A (p.Ala1167Glu)
c.3362C>A (p.Ala1121Glu)
c.3035C>A (p.Ala1012Glu)
c.3032C>A (p.Ala1011Glu)
c.3131C>A (p.Ala1044Glu)
c.*3059C>A (n.*3059C>A)
c.2106+182700C>A (n.2106+182700C>A)
n.122C>A
3g.184327407C>GCA355415325EIF2B5,EIF4G1c.3620C>G (p.Ala1207Gly)
c.3554C>G (p.Ala1185Gly)
c.2967C>G (n.2967C>G)
c.3023C>G (p.Ala1008Gly)
c.3623C>G (p.Ala1208Gly)
c.3128C>G (p.Ala1043Gly)
c.3641C>G (p.Ala1214Gly)
c.3359C>G (p.Ala1120Gly)
c.3503C>G (p.Ala1168Gly)
c.3500C>G (p.Ala1167Gly)
c.3362C>G (p.Ala1121Gly)
c.3035C>G (p.Ala1012Gly)
c.3032C>G (p.Ala1011Gly)
c.3131C>G (p.Ala1044Gly)
c.*3059C>G (n.*3059C>G)
c.2106+182700C>G (n.2106+182700C>G)
n.122C>G
3g.184327407C>TCA355415327EIF2B5,EIF4G1c.3620C>T (p.Ala1207Val)
c.3554C>T (p.Ala1185Val)
c.2967C>T (n.2967C>T)
c.3023C>T (p.Ala1008Val)
c.3623C>T (p.Ala1208Val)
c.3128C>T (p.Ala1043Val)
c.3641C>T (p.Ala1214Val)
c.3359C>T (p.Ala1120Val)
c.3503C>T (p.Ala1168Val)
c.3500C>T (p.Ala1167Val)
c.3362C>T (p.Ala1121Val)
c.3035C>T (p.Ala1012Val)
c.3032C>T (p.Ala1011Val)
c.3131C>T (p.Ala1044Val)
c.*3059C>T (n.*3059C>T)
c.2106+182700C>T (n.2106+182700C>T)
n.122C>T
3g.184327408A>CCA437330639EIF2B5,EIF4G1c.3621A>C (p.Ala1207=)
c.3555A>C (p.Ala1185=)
c.2968A>C (n.2968A>C)
c.3024A>C (p.Ala1008=)
c.3624A>C (p.Ala1208=)
c.3129A>C (p.Ala1043=)
c.3642A>C (p.Ala1214=)
c.3360A>C (p.Ala1120=)
c.3504A>C (p.Ala1168=)
c.3501A>C (p.Ala1167=)
c.3363A>C (p.Ala1121=)
c.3036A>C (p.Ala1012=)
c.3033A>C (p.Ala1011=)
c.3132A>C (p.Ala1044=)
c.*3060A>C (n.*3060A>C)
c.2106+182701A>C (n.2106+182701A>C)
n.123A>C
3g.184327408A>GCA437330640EIF2B5,EIF4G1c.3621A>G (p.Ala1207=)
c.3555A>G (p.Ala1185=)
c.2968A>G (n.2968A>G)
c.3024A>G (p.Ala1008=)
c.3624A>G (p.Ala1208=)
c.3129A>G (p.Ala1043=)
c.3642A>G (p.Ala1214=)
c.3360A>G (p.Ala1120=)
c.3504A>G (p.Ala1168=)
c.3501A>G (p.Ala1167=)
c.3363A>G (p.Ala1121=)
c.3036A>G (p.Ala1012=)
c.3033A>G (p.Ala1011=)
c.3132A>G (p.Ala1044=)
c.*3060A>G (n.*3060A>G)
c.2106+182701A>G (n.2106+182701A>G)
n.123A>G
3g.184327408A>TCA437330641EIF2B5,EIF4G1c.3621A>T (p.Ala1207=)
c.3555A>T (p.Ala1185=)
c.2968A>T (n.2968A>T)
c.3024A>T (p.Ala1008=)
c.3624A>T (p.Ala1208=)
c.3129A>T (p.Ala1043=)
c.3642A>T (p.Ala1214=)
c.3360A>T (p.Ala1120=)
c.3504A>T (p.Ala1168=)
c.3501A>T (p.Ala1167=)
c.3363A>T (p.Ala1121=)
c.3036A>T (p.Ala1012=)
c.3033A>T (p.Ala1011=)
c.3132A>T (p.Ala1044=)
c.*3060A>T (n.*3060A>T)
c.2106+182701A>T (n.2106+182701A>T)
n.123A>T
3g.184327409G>ACA355415331EIF2B5,EIF4G1c.3622G>A (p.Ala1208Thr)
c.3556G>A (p.Ala1186Thr)
c.2969G>A (n.2969G>A)
c.3025G>A (p.Ala1009Thr)
c.3625G>A (p.Ala1209Thr)
c.3130G>A (p.Ala1044Thr)
c.3643G>A (p.Ala1215Thr)
c.3361G>A (p.Ala1121Thr)
c.3505G>A (p.Ala1169Thr)
c.3502G>A (p.Ala1168Thr)
c.3364G>A (p.Ala1122Thr)
c.3037G>A (p.Ala1013Thr)
c.3034G>A (p.Ala1012Thr)
c.3133G>A (p.Ala1045Thr)
c.*3061G>A (n.*3061G>A)
c.2106+182702G>A (n.2106+182702G>A)
n.124G>A
3g.184327409G>CCA355415333EIF2B5,EIF4G1c.3622G>C (p.Ala1208Pro)
c.3556G>C (p.Ala1186Pro)
c.2969G>C (n.2969G>C)
c.3025G>C (p.Ala1009Pro)
c.3625G>C (p.Ala1209Pro)
c.3130G>C (p.Ala1044Pro)
c.3643G>C (p.Ala1215Pro)
c.3361G>C (p.Ala1121Pro)
c.3505G>C (p.Ala1169Pro)
c.3502G>C (p.Ala1168Pro)
c.3364G>C (p.Ala1122Pro)
c.3037G>C (p.Ala1013Pro)
c.3034G>C (p.Ala1012Pro)
c.3133G>C (p.Ala1045Pro)
c.*3061G>C (n.*3061G>C)
c.2106+182702G>C (n.2106+182702G>C)
n.124G>C
3g.184327409G>TCA355415336EIF2B5,EIF4G1c.3622G>T (p.Ala1208Ser)
c.3556G>T (p.Ala1186Ser)
c.2969G>T (n.2969G>T)
c.3025G>T (p.Ala1009Ser)
c.3625G>T (p.Ala1209Ser)
c.3130G>T (p.Ala1044Ser)
c.3643G>T (p.Ala1215Ser)
c.3361G>T (p.Ala1121Ser)
c.3505G>T (p.Ala1169Ser)
c.3502G>T (p.Ala1168Ser)
c.3364G>T (p.Ala1122Ser)
c.3037G>T (p.Ala1013Ser)
c.3034G>T (p.Ala1012Ser)
c.3133G>T (p.Ala1045Ser)
c.*3061G>T (n.*3061G>T)
c.2106+182702G>T (n.2106+182702G>T)
n.124G>T
3g.184327410C>ACA355415339EIF2B5,EIF4G1c.3623C>A (p.Ala1208Asp)
c.3557C>A (p.Ala1186Asp)
c.2970C>A (n.2970C>A)
c.3026C>A (p.Ala1009Asp)
c.3626C>A (p.Ala1209Asp)
c.3131C>A (p.Ala1044Asp)
c.3644C>A (p.Ala1215Asp)
c.3362C>A (p.Ala1121Asp)
c.3506C>A (p.Ala1169Asp)
c.3503C>A (p.Ala1168Asp)
c.3365C>A (p.Ala1122Asp)
c.3038C>A (p.Ala1013Asp)
c.3035C>A (p.Ala1012Asp)
c.3134C>A (p.Ala1045Asp)
c.*3062C>A (n.*3062C>A)
c.2106+182703C>A (n.2106+182703C>A)
n.125C>A
3g.184327410C>GCA355415341EIF2B5,EIF4G1c.3623C>G (p.Ala1208Gly)
c.3557C>G (p.Ala1186Gly)
c.2970C>G (n.2970C>G)
c.3026C>G (p.Ala1009Gly)
c.3626C>G (p.Ala1209Gly)
c.3131C>G (p.Ala1044Gly)
c.3644C>G (p.Ala1215Gly)
c.3362C>G (p.Ala1121Gly)
c.3506C>G (p.Ala1169Gly)
c.3503C>G (p.Ala1168Gly)
c.3365C>G (p.Ala1122Gly)
c.3038C>G (p.Ala1013Gly)
c.3035C>G (p.Ala1012Gly)
c.3134C>G (p.Ala1045Gly)
c.*3062C>G (n.*3062C>G)
c.2106+182703C>G (n.2106+182703C>G)
n.125C>G
3g.184327410C>TCA355415344EIF2B5,EIF4G1c.3623C>T (p.Ala1208Val)
c.3557C>T (p.Ala1186Val)
c.2970C>T (n.2970C>T)
c.3026C>T (p.Ala1009Val)
c.3626C>T (p.Ala1209Val)
c.3131C>T (p.Ala1044Val)
c.3644C>T (p.Ala1215Val)
c.3362C>T (p.Ala1121Val)
c.3506C>T (p.Ala1169Val)
c.3503C>T (p.Ala1168Val)
c.3365C>T (p.Ala1122Val)
c.3038C>T (p.Ala1013Val)
c.3035C>T (p.Ala1012Val)
c.3134C>T (p.Ala1045Val)
c.*3062C>T (n.*3062C>T)
c.2106+182703C>T (n.2106+182703C>T)
n.125C>T
3g.184327411T>ACA437330643EIF2B5,EIF4G1c.3624T>A (p.Ala1208=)
c.3558T>A (p.Ala1186=)
c.2971T>A (n.2971T>A)
c.3027T>A (p.Ala1009=)
c.3627T>A (p.Ala1209=)
c.3132T>A (p.Ala1044=)
c.3645T>A (p.Ala1215=)
c.3363T>A (p.Ala1121=)
c.3507T>A (p.Ala1169=)
c.3504T>A (p.Ala1168=)
c.3366T>A (p.Ala1122=)
c.3039T>A (p.Ala1013=)
c.3036T>A (p.Ala1012=)
c.3135T>A (p.Ala1045=)
c.*3063T>A (n.*3063T>A)
c.2106+182704T>A (n.2106+182704T>A)
n.126T>A
3g.184327411T>CCA437330644EIF2B5,EIF4G1c.3624T>C (p.Ala1208=)
c.3558T>C (p.Ala1186=)
c.2971T>C (n.2971T>C)
c.3027T>C (p.Ala1009=)
c.3627T>C (p.Ala1209=)
c.3132T>C (p.Ala1044=)
c.3645T>C (p.Ala1215=)
c.3363T>C (p.Ala1121=)
c.3507T>C (p.Ala1169=)
c.3504T>C (p.Ala1168=)
c.3366T>C (p.Ala1122=)
c.3039T>C (p.Ala1013=)
c.3036T>C (p.Ala1012=)
c.3135T>C (p.Ala1045=)
c.*3063T>C (n.*3063T>C)
c.2106+182704T>C (n.2106+182704T>C)
n.126T>C
 dbSNP gnomAD v4
3g.184327411T>GCA437330645EIF2B5,EIF4G1c.3624T>G (p.Ala1208=)
c.3558T>G (p.Ala1186=)
c.2971T>G (n.2971T>G)
c.3027T>G (p.Ala1009=)
c.3627T>G (p.Ala1209=)
c.3132T>G (p.Ala1044=)
c.3645T>G (p.Ala1215=)
c.3363T>G (p.Ala1121=)
c.3507T>G (p.Ala1169=)
c.3504T>G (p.Ala1168=)
c.3366T>G (p.Ala1122=)
c.3039T>G (p.Ala1013=)
c.3036T>G (p.Ala1012=)
c.3135T>G (p.Ala1045=)
c.*3063T>G (n.*3063T>G)
c.2106+182704T>G (n.2106+182704T>G)
n.126T>G
3g.184327411T=CA1425958418EIF2B5,EIF4G1c.3624T= (p.Ala1208=)
c.3558T= (p.Ala1186=)
c.2971T= (n.2971T=)
c.3027T= (p.Ala1009=)
c.3627T= (p.Ala1209=)
c.3132T= (p.Ala1044=)
c.3645T= (p.Ala1215=)
c.3363T= (p.Ala1121=)
c.3507T= (p.Ala1169=)
c.3504T= (p.Ala1168=)
c.3366T= (p.Ala1122=)
c.3039T= (p.Ala1013=)
c.3036T= (p.Ala1012=)
c.3135T= (p.Ala1045=)
c.*3063T= (n.*3063T=)
c.2106+182704T= (n.2106+182704T=)
n.126T=
3g.184327412A=CA1425958424EIF2B5,EIF4G1c.3625A= (p.Ser1209=)
c.3559A= (p.Ser1187=)
c.2972A= (n.2972A=)
c.3028A= (p.Ser1010=)
c.3628A= (p.Ser1210=)
c.3133A= (p.Ser1045=)
c.3646A= (p.Ser1216=)
c.3364A= (p.Ser1122=)
c.3508A= (p.Ser1170=)
c.3505A= (p.Ser1169=)
c.3367A= (p.Ser1123=)
c.3040A= (p.Ser1014=)
c.3037A= (p.Ser1013=)
c.3136A= (p.Ser1046=)
c.*3064A= (n.*3064A=)
c.2106+182705A= (n.2106+182705A=)
n.127A=
3g.184327412A>CCA355415347EIF2B5,EIF4G1c.3625A>C (p.Ser1209Arg)
c.3559A>C (p.Ser1187Arg)
c.2972A>C (n.2972A>C)
c.3028A>C (p.Ser1010Arg)
c.3628A>C (p.Ser1210Arg)
c.3133A>C (p.Ser1045Arg)
c.3646A>C (p.Ser1216Arg)
c.3364A>C (p.Ser1122Arg)
c.3508A>C (p.Ser1170Arg)
c.3505A>C (p.Ser1169Arg)
c.3367A>C (p.Ser1123Arg)
c.3040A>C (p.Ser1014Arg)
c.3037A>C (p.Ser1013Arg)
c.3136A>C (p.Ser1046Arg)
c.*3064A>C (n.*3064A>C)
c.2106+182705A>C (n.2106+182705A>C)
n.127A>C
3g.184327412A>GCA355415351EIF2B5,EIF4G1c.3625A>G (p.Ser1209Gly)
c.3559A>G (p.Ser1187Gly)
c.2972A>G (n.2972A>G)
c.3028A>G (p.Ser1010Gly)
c.3628A>G (p.Ser1210Gly)
c.3133A>G (p.Ser1045Gly)
c.3646A>G (p.Ser1216Gly)
c.3364A>G (p.Ser1122Gly)
c.3508A>G (p.Ser1170Gly)
c.3505A>G (p.Ser1169Gly)
c.3367A>G (p.Ser1123Gly)
c.3040A>G (p.Ser1014Gly)
c.3037A>G (p.Ser1013Gly)
c.3136A>G (p.Ser1046Gly)
c.*3064A>G (n.*3064A>G)
c.2106+182705A>G (n.2106+182705A>G)
n.127A>G
 dbSNP
3g.184327412A>TCA355415349EIF2B5,EIF4G1c.3625A>T (p.Ser1209Cys)
c.3559A>T (p.Ser1187Cys)
c.2972A>T (n.2972A>T)
c.3028A>T (p.Ser1010Cys)
c.3628A>T (p.Ser1210Cys)
c.3133A>T (p.Ser1045Cys)
c.3646A>T (p.Ser1216Cys)
c.3364A>T (p.Ser1122Cys)
c.3508A>T (p.Ser1170Cys)
c.3505A>T (p.Ser1169Cys)
c.3367A>T (p.Ser1123Cys)
c.3040A>T (p.Ser1014Cys)
c.3037A>T (p.Ser1013Cys)
c.3136A>T (p.Ser1046Cys)
c.*3064A>T (n.*3064A>T)
c.2106+182705A>T (n.2106+182705A>T)
n.127A>T
3g.184327413G>ACA355415354EIF2B5,EIF4G1c.3626G>A (p.Ser1209Asn)
c.3560G>A (p.Ser1187Asn)
c.2973G>A (n.2973G>A)
c.3029G>A (p.Ser1010Asn)
c.3629G>A (p.Ser1210Asn)
c.3134G>A (p.Ser1045Asn)
c.3647G>A (p.Ser1216Asn)
c.3365G>A (p.Ser1122Asn)
c.3509G>A (p.Ser1170Asn)
c.3506G>A (p.Ser1169Asn)
c.3368G>A (p.Ser1123Asn)
c.3041G>A (p.Ser1014Asn)
c.3038G>A (p.Ser1013Asn)
c.3137G>A (p.Ser1046Asn)
c.*3065G>A (n.*3065G>A)
c.2106+182706G>A (n.2106+182706G>A)
n.128G>A
3g.184327413G>CCA355415356EIF2B5,EIF4G1c.3626G>C (p.Ser1209Thr)
c.3560G>C (p.Ser1187Thr)
c.2973G>C (n.2973G>C)
c.3029G>C (p.Ser1010Thr)
c.3629G>C (p.Ser1210Thr)
c.3134G>C (p.Ser1045Thr)
c.3647G>C (p.Ser1216Thr)
c.3365G>C (p.Ser1122Thr)
c.3509G>C (p.Ser1170Thr)
c.3506G>C (p.Ser1169Thr)
c.3368G>C (p.Ser1123Thr)
c.3041G>C (p.Ser1014Thr)
c.3038G>C (p.Ser1013Thr)
c.3137G>C (p.Ser1046Thr)
c.*3065G>C (n.*3065G>C)
c.2106+182706G>C (n.2106+182706G>C)
n.128G>C
 COSMIC
3g.184327413G>TCA355415358EIF2B5,EIF4G1c.3626G>T (p.Ser1209Ile)
c.3560G>T (p.Ser1187Ile)
c.2973G>T (n.2973G>T)
c.3029G>T (p.Ser1010Ile)
c.3629G>T (p.Ser1210Ile)
c.3134G>T (p.Ser1045Ile)
c.3647G>T (p.Ser1216Ile)
c.3365G>T (p.Ser1122Ile)
c.3509G>T (p.Ser1170Ile)
c.3506G>T (p.Ser1169Ile)
c.3368G>T (p.Ser1123Ile)
c.3041G>T (p.Ser1014Ile)
c.3038G>T (p.Ser1013Ile)
c.3137G>T (p.Ser1046Ile)
c.*3065G>T (n.*3065G>T)
c.2106+182706G>T (n.2106+182706G>T)
n.128G>T
3g.184327414C>ACA355415361EIF2B5,EIF4G1c.3627C>A (p.Ser1209Arg)
c.3561C>A (p.Ser1187Arg)
c.2974C>A (n.2974C>A)
c.3030C>A (p.Ser1010Arg)
c.3630C>A (p.Ser1210Arg)
c.3135C>A (p.Ser1045Arg)
c.3648C>A (p.Ser1216Arg)
c.3366C>A (p.Ser1122Arg)
c.3510C>A (p.Ser1170Arg)
c.3507C>A (p.Ser1169Arg)
c.3369C>A (p.Ser1123Arg)
c.3042C>A (p.Ser1014Arg)
c.3039C>A (p.Ser1013Arg)
c.3138C>A (p.Ser1046Arg)
c.*3066C>A (n.*3066C>A)
c.2106+182707C>A (n.2106+182707C>A)
n.129C>A
3g.184327414C>GCA355415362EIF2B5,EIF4G1c.3627C>G (p.Ser1209Arg)
c.3561C>G (p.Ser1187Arg)
c.2974C>G (n.2974C>G)
c.3030C>G (p.Ser1010Arg)
c.3630C>G (p.Ser1210Arg)
c.3135C>G (p.Ser1045Arg)
c.3648C>G (p.Ser1216Arg)
c.3366C>G (p.Ser1122Arg)
c.3510C>G (p.Ser1170Arg)
c.3507C>G (p.Ser1169Arg)
c.3369C>G (p.Ser1123Arg)
c.3042C>G (p.Ser1014Arg)
c.3039C>G (p.Ser1013Arg)
c.3138C>G (p.Ser1046Arg)
c.*3066C>G (n.*3066C>G)
c.2106+182707C>G (n.2106+182707C>G)
n.129C>G
3g.184327414C>TCA437330654EIF2B5,EIF4G1c.3627C>T (p.Ser1209=)
c.3561C>T (p.Ser1187=)
c.2974C>T (n.2974C>T)
c.3030C>T (p.Ser1010=)
c.3630C>T (p.Ser1210=)
c.3135C>T (p.Ser1045=)
c.3648C>T (p.Ser1216=)
c.3366C>T (p.Ser1122=)
c.3510C>T (p.Ser1170=)
c.3507C>T (p.Ser1169=)
c.3369C>T (p.Ser1123=)
c.3042C>T (p.Ser1014=)
c.3039C>T (p.Ser1013=)
c.3138C>T (p.Ser1046=)
c.*3066C>T (n.*3066C>T)
c.2106+182707C>T (n.2106+182707C>T)
n.129C>T
3g.184327415C>ACA355415365EIF2B5,EIF4G1c.3628C>A (p.Leu1210Ile)
c.3562C>A (p.Leu1188Ile)
c.2975C>A (n.2975C>A)
c.3031C>A (p.Leu1011Ile)
c.3631C>A (p.Leu1211Ile)
c.3136C>A (p.Leu1046Ile)
c.3649C>A (p.Leu1217Ile)
c.3367C>A (p.Leu1123Ile)
c.3511C>A (p.Leu1171Ile)
c.3508C>A (p.Leu1170Ile)
c.3370C>A (p.Leu1124Ile)
c.3043C>A (p.Leu1015Ile)
c.3040C>A (p.Leu1014Ile)
c.3139C>A (p.Leu1047Ile)
c.*3067C>A (n.*3067C>A)
c.2106+182708C>A (n.2106+182708C>A)
n.130C>A
3g.184327415C>GCA355415367EIF2B5,EIF4G1c.3628C>G (p.Leu1210Val)
c.3562C>G (p.Leu1188Val)
c.2975C>G (n.2975C>G)
c.3031C>G (p.Leu1011Val)
c.3631C>G (p.Leu1211Val)
c.3136C>G (p.Leu1046Val)
c.3649C>G (p.Leu1217Val)
c.3367C>G (p.Leu1123Val)
c.3511C>G (p.Leu1171Val)
c.3508C>G (p.Leu1170Val)
c.3370C>G (p.Leu1124Val)
c.3043C>G (p.Leu1015Val)
c.3040C>G (p.Leu1014Val)
c.3139C>G (p.Leu1047Val)
c.*3067C>G (n.*3067C>G)
c.2106+182708C>G (n.2106+182708C>G)
n.130C>G
3g.184327415C>TCA355415368EIF2B5,EIF4G1c.3628C>T (p.Leu1210Phe)
c.3562C>T (p.Leu1188Phe)
c.2975C>T (n.2975C>T)
c.3031C>T (p.Leu1011Phe)
c.3631C>T (p.Leu1211Phe)
c.3136C>T (p.Leu1046Phe)
c.3649C>T (p.Leu1217Phe)
c.3367C>T (p.Leu1123Phe)
c.3511C>T (p.Leu1171Phe)
c.3508C>T (p.Leu1170Phe)
c.3370C>T (p.Leu1124Phe)
c.3043C>T (p.Leu1015Phe)
c.3040C>T (p.Leu1014Phe)
c.3139C>T (p.Leu1047Phe)
c.*3067C>T (n.*3067C>T)
c.2106+182708C>T (n.2106+182708C>T)
n.130C>T
3g.184327416T>ACA355415372EIF2B5,EIF4G1c.3629T>A (p.Leu1210His)
c.3563T>A (p.Leu1188His)
c.2976T>A (n.2976T>A)
c.3032T>A (p.Leu1011His)
c.3632T>A (p.Leu1211His)
c.3137T>A (p.Leu1046His)
c.3650T>A (p.Leu1217His)
c.3368T>A (p.Leu1123His)
c.3512T>A (p.Leu1171His)
c.3509T>A (p.Leu1170His)
c.3371T>A (p.Leu1124His)
c.3044T>A (p.Leu1015His)
c.3041T>A (p.Leu1014His)
c.3140T>A (p.Leu1047His)
c.*3068T>A (n.*3068T>A)
c.2106+182709T>A (n.2106+182709T>A)
n.131T>A
3g.184327416T>CCA355415374EIF2B5,EIF4G1c.3629T>C (p.Leu1210Pro)
c.3563T>C (p.Leu1188Pro)
c.2976T>C (n.2976T>C)
c.3032T>C (p.Leu1011Pro)
c.3632T>C (p.Leu1211Pro)
c.3137T>C (p.Leu1046Pro)
c.3650T>C (p.Leu1217Pro)
c.3368T>C (p.Leu1123Pro)
c.3512T>C (p.Leu1171Pro)
c.3509T>C (p.Leu1170Pro)
c.3371T>C (p.Leu1124Pro)
c.3044T>C (p.Leu1015Pro)
c.3041T>C (p.Leu1014Pro)
c.3140T>C (p.Leu1047Pro)
c.*3068T>C (n.*3068T>C)
c.2106+182709T>C (n.2106+182709T>C)
n.131T>C
3g.184327416T>GCA355415376EIF2B5,EIF4G1c.3629T>G (p.Leu1210Arg)
c.3563T>G (p.Leu1188Arg)
c.2976T>G (n.2976T>G)
c.3032T>G (p.Leu1011Arg)
c.3632T>G (p.Leu1211Arg)
c.3137T>G (p.Leu1046Arg)
c.3650T>G (p.Leu1217Arg)
c.3368T>G (p.Leu1123Arg)
c.3512T>G (p.Leu1171Arg)
c.3509T>G (p.Leu1170Arg)
c.3371T>G (p.Leu1124Arg)
c.3044T>G (p.Leu1015Arg)
c.3041T>G (p.Leu1014Arg)
c.3140T>G (p.Leu1047Arg)
c.*3068T>G (n.*3068T>G)
c.2106+182709T>G (n.2106+182709T>G)
n.131T>G
 gnomAD v4
3g.184327417C>ACA2732858EIF2B5,EIF4G1c.3630C>A (p.Leu1210=)
c.3564C>A (p.Leu1188=)
c.2977C>A (n.2977C>A)
c.3033C>A (p.Leu1011=)
c.3633C>A (p.Leu1211=)
c.3138C>A (p.Leu1046=)
c.3651C>A (p.Leu1217=)
c.3369C>A (p.Leu1123=)
c.3513C>A (p.Leu1171=)
c.3510C>A (p.Leu1170=)
c.3372C>A (p.Leu1124=)
c.3045C>A (p.Leu1015=)
c.3042C>A (p.Leu1014=)
c.3141C>A (p.Leu1047=)
c.*3069C>A (n.*3069C>A)
c.2106+182710C>A (n.2106+182710C>A)
n.132C>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.184327417C=CA1425958426EIF2B5,EIF4G1c.3630C= (p.Leu1210=)
c.3564C= (p.Leu1188=)
c.2977C= (n.2977C=)
c.3033C= (p.Leu1011=)
c.3633C= (p.Leu1211=)
c.3138C= (p.Leu1046=)
c.3651C= (p.Leu1217=)
c.3369C= (p.Leu1123=)
c.3513C= (p.Leu1171=)
c.3510C= (p.Leu1170=)
c.3372C= (p.Leu1124=)
c.3045C= (p.Leu1015=)
c.3042C= (p.Leu1014=)
c.3141C= (p.Leu1047=)
c.*3069C= (n.*3069C=)
c.2106+182710C= (n.2106+182710C=)
n.132C=
3g.184327417C>GCA437330658EIF2B5,EIF4G1c.3630C>G (p.Leu1210=)
c.3564C>G (p.Leu1188=)
c.2977C>G (n.2977C>G)
c.3033C>G (p.Leu1011=)
c.3633C>G (p.Leu1211=)
c.3138C>G (p.Leu1046=)
c.3651C>G (p.Leu1217=)
c.3369C>G (p.Leu1123=)
c.3513C>G (p.Leu1171=)
c.3510C>G (p.Leu1170=)
c.3372C>G (p.Leu1124=)
c.3045C>G (p.Leu1015=)
c.3042C>G (p.Leu1014=)
c.3141C>G (p.Leu1047=)
c.*3069C>G (n.*3069C>G)
c.2106+182710C>G (n.2106+182710C>G)
n.132C>G
3g.184327417C>TCA437330657EIF2B5,EIF4G1c.3630C>T (p.Leu1210=)
c.3564C>T (p.Leu1188=)
c.2977C>T (n.2977C>T)
c.3033C>T (p.Leu1011=)
c.3633C>T (p.Leu1211=)
c.3138C>T (p.Leu1046=)
c.3651C>T (p.Leu1217=)
c.3369C>T (p.Leu1123=)
c.3513C>T (p.Leu1171=)
c.3510C>T (p.Leu1170=)
c.3372C>T (p.Leu1124=)
c.3045C>T (p.Leu1015=)
c.3042C>T (p.Leu1014=)
c.3141C>T (p.Leu1047=)
c.*3069C>T (n.*3069C>T)
c.2106+182710C>T (n.2106+182710C>T)
n.132C>T
 gnomAD v4
3g.184327418A=CA1425958429EIF2B5,EIF4G1c.3631A= (p.Thr1211=)
c.3565A= (p.Thr1189=)
c.2978A= (n.2978A=)
c.3034A= (p.Thr1012=)
c.3634A= (p.Thr1212=)
c.3139A= (p.Thr1047=)
c.3652A= (p.Thr1218=)
c.3370A= (p.Thr1124=)
c.3514A= (p.Thr1172=)
c.3511A= (p.Thr1171=)
c.3373A= (p.Thr1125=)
c.3046A= (p.Thr1016=)
c.3043A= (p.Thr1015=)
c.3142A= (p.Thr1048=)
c.*3070A= (n.*3070A=)
c.2106+182711A= (n.2106+182711A=)
n.133A=
3g.184327418A>CCA355415391EIF2B5,EIF4G1c.3631A>C (p.Thr1211Pro)
c.3565A>C (p.Thr1189Pro)
c.2978A>C (n.2978A>C)
c.3034A>C (p.Thr1012Pro)
c.3634A>C (p.Thr1212Pro)
c.3139A>C (p.Thr1047Pro)
c.3652A>C (p.Thr1218Pro)
c.3370A>C (p.Thr1124Pro)
c.3514A>C (p.Thr1172Pro)
c.3511A>C (p.Thr1171Pro)
c.3373A>C (p.Thr1125Pro)
c.3046A>C (p.Thr1016Pro)
c.3043A>C (p.Thr1015Pro)
c.3142A>C (p.Thr1048Pro)
c.*3070A>C (n.*3070A>C)
c.2106+182711A>C (n.2106+182711A>C)
n.133A>C
3g.184327418A>GCA88867674EIF2B5,EIF4G1c.3631A>G (p.Thr1211Ala)
c.3565A>G (p.Thr1189Ala)
c.2978A>G (n.2978A>G)
c.3034A>G (p.Thr1012Ala)
c.3634A>G (p.Thr1212Ala)
c.3139A>G (p.Thr1047Ala)
c.3652A>G (p.Thr1218Ala)
c.3370A>G (p.Thr1124Ala)
c.3514A>G (p.Thr1172Ala)
c.3511A>G (p.Thr1171Ala)
c.3373A>G (p.Thr1125Ala)
c.3046A>G (p.Thr1016Ala)
c.3043A>G (p.Thr1015Ala)
c.3142A>G (p.Thr1048Ala)
c.*3070A>G (n.*3070A>G)
c.2106+182711A>G (n.2106+182711A>G)
n.133A>G
 dbSNP
3g.184327418A>TCA355415387EIF2B5,EIF4G1c.3631A>T (p.Thr1211Ser)
c.3565A>T (p.Thr1189Ser)
c.2978A>T (n.2978A>T)
c.3034A>T (p.Thr1012Ser)
c.3634A>T (p.Thr1212Ser)
c.3139A>T (p.Thr1047Ser)
c.3652A>T (p.Thr1218Ser)
c.3370A>T (p.Thr1124Ser)
c.3514A>T (p.Thr1172Ser)
c.3511A>T (p.Thr1171Ser)
c.3373A>T (p.Thr1125Ser)
c.3046A>T (p.Thr1016Ser)
c.3043A>T (p.Thr1015Ser)
c.3142A>T (p.Thr1048Ser)
c.*3070A>T (n.*3070A>T)
c.2106+182711A>T (n.2106+182711A>T)
n.133A>T
3g.184327419C>ACA355415395EIF2B5,EIF4G1c.3632C>A (p.Thr1211Lys)
c.3566C>A (p.Thr1189Lys)
c.2979C>A (n.2979C>A)
c.3035C>A (p.Thr1012Lys)
c.3635C>A (p.Thr1212Lys)
c.3140C>A (p.Thr1047Lys)
c.3653C>A (p.Thr1218Lys)
c.3371C>A (p.Thr1124Lys)
c.3515C>A (p.Thr1172Lys)
c.3512C>A (p.Thr1171Lys)
c.3374C>A (p.Thr1125Lys)
c.3047C>A (p.Thr1016Lys)
c.3044C>A (p.Thr1015Lys)
c.3143C>A (p.Thr1048Lys)
c.*3071C>A (n.*3071C>A)
c.2106+182712C>A (n.2106+182712C>A)
n.134C>A
3g.184327419C=CA1425958432EIF2B5,EIF4G1c.3632C= (p.Thr1211=)
c.3566C= (p.Thr1189=)
c.2979C= (n.2979C=)
c.3035C= (p.Thr1012=)
c.3635C= (p.Thr1212=)
c.3140C= (p.Thr1047=)
c.3653C= (p.Thr1218=)
c.3371C= (p.Thr1124=)
c.3515C= (p.Thr1172=)
c.3512C= (p.Thr1171=)
c.3374C= (p.Thr1125=)
c.3047C= (p.Thr1016=)
c.3044C= (p.Thr1015=)
c.3143C= (p.Thr1048=)
c.*3071C= (n.*3071C=)
c.2106+182712C= (n.2106+182712C=)
n.134C=
3g.184327419C>GCA355415397EIF2B5,EIF4G1c.3632C>G (p.Thr1211Arg)
c.3566C>G (p.Thr1189Arg)
c.2979C>G (n.2979C>G)
c.3035C>G (p.Thr1012Arg)
c.3635C>G (p.Thr1212Arg)
c.3140C>G (p.Thr1047Arg)
c.3653C>G (p.Thr1218Arg)
c.3371C>G (p.Thr1124Arg)
c.3515C>G (p.Thr1172Arg)
c.3512C>G (p.Thr1171Arg)
c.3374C>G (p.Thr1125Arg)
c.3047C>G (p.Thr1016Arg)
c.3044C>G (p.Thr1015Arg)
c.3143C>G (p.Thr1048Arg)
c.*3071C>G (n.*3071C>G)
c.2106+182712C>G (n.2106+182712C>G)
n.134C>G
3g.184327419C>TCA88867677EIF2B5,EIF4G1c.3632C>T (p.Thr1211Met)
c.3566C>T (p.Thr1189Met)
c.2979C>T (n.2979C>T)
c.3035C>T (p.Thr1012Met)
c.3635C>T (p.Thr1212Met)
c.3140C>T (p.Thr1047Met)
c.3653C>T (p.Thr1218Met)
c.3371C>T (p.Thr1124Met)
c.3515C>T (p.Thr1172Met)
c.3512C>T (p.Thr1171Met)
c.3374C>T (p.Thr1125Met)
c.3047C>T (p.Thr1016Met)
c.3044C>T (p.Thr1015Met)
c.3143C>T (p.Thr1048Met)
c.*3071C>T (n.*3071C>T)
c.2106+182712C>T (n.2106+182712C>T)
n.134C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.184327420G>ACA2732859EIF2B5,EIF4G1c.3633G>A (p.Thr1211=)
c.3567G>A (p.Thr1189=)
c.2980G>A (n.2980G>A)
c.3036G>A (p.Thr1012=)
c.3636G>A (p.Thr1212=)
c.3141G>A (p.Thr1047=)
c.3654G>A (p.Thr1218=)
c.3372G>A (p.Thr1124=)
c.3516G>A (p.Thr1172=)
c.3513G>A (p.Thr1171=)
c.3375G>A (p.Thr1125=)
c.3048G>A (p.Thr1016=)
c.3045G>A (p.Thr1015=)
c.3144G>A (p.Thr1048=)
c.*3072G>A (n.*3072G>A)
c.2106+182713G>A (n.2106+182713G>A)
n.135G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
3g.184327420G>CCA437330664EIF2B5,EIF4G1c.3633G>C (p.Thr1211=)
c.3567G>C (p.Thr1189=)
c.2980G>C (n.2980G>C)
c.3036G>C (p.Thr1012=)
c.3636G>C (p.Thr1212=)
c.3141G>C (p.Thr1047=)
c.3654G>C (p.Thr1218=)
c.3372G>C (p.Thr1124=)
c.3516G>C (p.Thr1172=)
c.3513G>C (p.Thr1171=)
c.3375G>C (p.Thr1125=)
c.3048G>C (p.Thr1016=)
c.3045G>C (p.Thr1015=)
c.3144G>C (p.Thr1048=)
c.*3072G>C (n.*3072G>C)
c.2106+182713G>C (n.2106+182713G>C)
n.135G>C
3g.184327420G=CA1425958434EIF2B5,EIF4G1c.3633G= (p.Thr1211=)
c.3567G= (p.Thr1189=)
c.2980G= (n.2980G=)
c.3036G= (p.Thr1012=)
c.3636G= (p.Thr1212=)
c.3141G= (p.Thr1047=)
c.3654G= (p.Thr1218=)
c.3372G= (p.Thr1124=)
c.3516G= (p.Thr1172=)
c.3513G= (p.Thr1171=)
c.3375G= (p.Thr1125=)
c.3048G= (p.Thr1016=)
c.3045G= (p.Thr1015=)
c.3144G= (p.Thr1048=)
c.*3072G= (n.*3072G=)
c.2106+182713G= (n.2106+182713G=)
n.135G=
3g.184327420G>TCA437330662EIF2B5,EIF4G1c.3633G>T (p.Thr1211=)
c.3567G>T (p.Thr1189=)
c.2980G>T (n.2980G>T)
c.3036G>T (p.Thr1012=)
c.3636G>T (p.Thr1212=)
c.3141G>T (p.Thr1047=)
c.3654G>T (p.Thr1218=)
c.3372G>T (p.Thr1124=)
c.3516G>T (p.Thr1172=)
c.3513G>T (p.Thr1171=)
c.3375G>T (p.Thr1125=)
c.3048G>T (p.Thr1016=)
c.3045G>T (p.Thr1015=)
c.3144G>T (p.Thr1048=)
c.*3072G>T (n.*3072G>T)
c.2106+182713G>T (n.2106+182713G>T)
n.135G>T
 COSMIC
3g.184327421G>ACA355415404EIF2B5,EIF4G1c.3634G>A (p.Glu1212Lys)
c.3568G>A (p.Glu1190Lys)
c.2981G>A (n.2981G>A)
c.3037G>A (p.Glu1013Lys)
c.3637G>A (p.Glu1213Lys)
c.3142G>A (p.Glu1048Lys)
c.3655G>A (p.Glu1219Lys)
c.3373G>A (p.Glu1125Lys)
c.3517G>A (p.Glu1173Lys)
c.3514G>A (p.Glu1172Lys)
c.3376G>A (p.Glu1126Lys)
c.3049G>A (p.Glu1017Lys)
c.3046G>A (p.Glu1016Lys)
c.3145G>A (p.Glu1049Lys)
c.*3073G>A (n.*3073G>A)
c.2106+182714G>A (n.2106+182714G>A)
n.136G>A
 dbSNP gnomAD v3 gnomAD v4
3g.184327421G>CCA355415406EIF2B5,EIF4G1c.3634G>C (p.Glu1212Gln)
c.3568G>C (p.Glu1190Gln)
c.2981G>C (n.2981G>C)
c.3037G>C (p.Glu1013Gln)
c.3637G>C (p.Glu1213Gln)
c.3142G>C (p.Glu1048Gln)
c.3655G>C (p.Glu1219Gln)
c.3373G>C (p.Glu1125Gln)
c.3517G>C (p.Glu1173Gln)
c.3514G>C (p.Glu1172Gln)
c.3376G>C (p.Glu1126Gln)
c.3049G>C (p.Glu1017Gln)
c.3046G>C (p.Glu1016Gln)
c.3145G>C (p.Glu1049Gln)
c.*3073G>C (n.*3073G>C)
c.2106+182714G>C (n.2106+182714G>C)
n.136G>C
3g.184327421G=CA1425958438EIF2B5,EIF4G1c.3634G= (p.Glu1212=)
c.3568G= (p.Glu1190=)
c.2981G= (n.2981G=)
c.3037G= (p.Glu1013=)
c.3637G= (p.Glu1213=)
c.3142G= (p.Glu1048=)
c.3655G= (p.Glu1219=)
c.3373G= (p.Glu1125=)
c.3517G= (p.Glu1173=)
c.3514G= (p.Glu1172=)
c.3376G= (p.Glu1126=)
c.3049G= (p.Glu1017=)
c.3046G= (p.Glu1016=)
c.3145G= (p.Glu1049=)
c.*3073G= (n.*3073G=)
c.2106+182714G= (n.2106+182714G=)
n.136G=
3g.184327421G>TCA355415409EIF2B5,EIF4G1c.3634G>T (p.Glu1212Ter)
c.3568G>T (p.Glu1190Ter)
c.2981G>T (n.2981G>T)
c.3037G>T (p.Glu1013Ter)
c.3637G>T (p.Glu1213Ter)
c.3142G>T (p.Glu1048Ter)
c.3655G>T (p.Glu1219Ter)
c.3373G>T (p.Glu1125Ter)
c.3517G>T (p.Glu1173Ter)
c.3514G>T (p.Glu1172Ter)
c.3376G>T (p.Glu1126Ter)
c.3049G>T (p.Glu1017Ter)
c.3046G>T (p.Glu1016Ter)
c.3145G>T (p.Glu1049Ter)
c.*3073G>T (n.*3073G>T)
c.2106+182714G>T (n.2106+182714G>T)
n.136G>T
3g.184327422A>CCA355415413EIF2B5,EIF4G1c.3635A>C (p.Glu1212Ala)
c.3569A>C (p.Glu1190Ala)
c.2982A>C (n.2982A>C)
c.3038A>C (p.Glu1013Ala)
c.3638A>C (p.Glu1213Ala)
c.3143A>C (p.Glu1048Ala)
c.3656A>C (p.Glu1219Ala)
c.3374A>C (p.Glu1125Ala)
c.3518A>C (p.Glu1173Ala)
c.3515A>C (p.Glu1172Ala)
c.3377A>C (p.Glu1126Ala)
c.3050A>C (p.Glu1017Ala)
c.3047A>C (p.Glu1016Ala)
c.3146A>C (p.Glu1049Ala)
c.*3074A>C (n.*3074A>C)
c.2106+182715A>C (n.2106+182715A>C)
n.137A>C
3g.184327422A>GCA355415415EIF2B5,EIF4G1c.3635A>G (p.Glu1212Gly)
c.3569A>G (p.Glu1190Gly)
c.2982A>G (n.2982A>G)
c.3038A>G (p.Glu1013Gly)
c.3638A>G (p.Glu1213Gly)
c.3143A>G (p.Glu1048Gly)
c.3656A>G (p.Glu1219Gly)
c.3374A>G (p.Glu1125Gly)
c.3518A>G (p.Glu1173Gly)
c.3515A>G (p.Glu1172Gly)
c.3377A>G (p.Glu1126Gly)
c.3050A>G (p.Glu1017Gly)
c.3047A>G (p.Glu1016Gly)
c.3146A>G (p.Glu1049Gly)
c.*3074A>G (n.*3074A>G)
c.2106+182715A>G (n.2106+182715A>G)
n.137A>G
3g.184327422A>TCA355415417EIF2B5,EIF4G1c.3635A>T (p.Glu1212Val)
c.3569A>T (p.Glu1190Val)
c.2982A>T (n.2982A>T)
c.3038A>T (p.Glu1013Val)
c.3638A>T (p.Glu1213Val)
c.3143A>T (p.Glu1048Val)
c.3656A>T (p.Glu1219Val)
c.3374A>T (p.Glu1125Val)
c.3518A>T (p.Glu1173Val)
c.3515A>T (p.Glu1172Val)
c.3377A>T (p.Glu1126Val)
c.3050A>T (p.Glu1017Val)
c.3047A>T (p.Glu1016Val)
c.3146A>T (p.Glu1049Val)
c.*3074A>T (n.*3074A>T)
c.2106+182715A>T (n.2106+182715A>T)
n.137A>T
3g.184327423G>ACA437330669EIF2B5,EIF4G1c.3636G>A (p.Glu1212=)
c.3570G>A (p.Glu1190=)
c.2983G>A (n.2983G>A)
c.3039G>A (p.Glu1013=)
c.3639G>A (p.Glu1213=)
c.3144G>A (p.Glu1048=)
c.3657G>A (p.Glu1219=)
c.3375G>A (p.Glu1125=)
c.3519G>A (p.Glu1173=)
c.3516G>A (p.Glu1172=)
c.3378G>A (p.Glu1126=)
c.3051G>A (p.Glu1017=)
c.3048G>A (p.Glu1016=)
c.3147G>A (p.Glu1049=)
c.*3075G>A (n.*3075G>A)
c.2106+182716G>A (n.2106+182716G>A)
n.138G>A
3g.184327423G>CCA355415421EIF2B5,EIF4G1c.3636G>C (p.Glu1212Asp)
c.3570G>C (p.Glu1190Asp)
c.2983G>C (n.2983G>C)
c.3039G>C (p.Glu1013Asp)
c.3639G>C (p.Glu1213Asp)
c.3144G>C (p.Glu1048Asp)
c.3657G>C (p.Glu1219Asp)
c.3375G>C (p.Glu1125Asp)
c.3519G>C (p.Glu1173Asp)
c.3516G>C (p.Glu1172Asp)
c.3378G>C (p.Glu1126Asp)
c.3051G>C (p.Glu1017Asp)
c.3048G>C (p.Glu1016Asp)
c.3147G>C (p.Glu1049Asp)
c.*3075G>C (n.*3075G>C)
c.2106+182716G>C (n.2106+182716G>C)
n.138G>C
3g.184327423G>TCA355415423EIF2B5,EIF4G1c.3636G>T (p.Glu1212Asp)
c.3570G>T (p.Glu1190Asp)
c.2983G>T (n.2983G>T)
c.3039G>T (p.Glu1013Asp)
c.3639G>T (p.Glu1213Asp)
c.3144G>T (p.Glu1048Asp)
c.3657G>T (p.Glu1219Asp)
c.3375G>T (p.Glu1125Asp)
c.3519G>T (p.Glu1173Asp)
c.3516G>T (p.Glu1172Asp)
c.3378G>T (p.Glu1126Asp)
c.3051G>T (p.Glu1017Asp)
c.3048G>T (p.Glu1016Asp)
c.3147G>T (p.Glu1049Asp)
c.*3075G>T (n.*3075G>T)
c.2106+182716G>T (n.2106+182716G>T)
n.138G>T
3g.184327424G>ACA355415427EIF2B5,EIF4G1c.3637G>A (p.Asp1213Asn)
c.3571G>A (p.Asp1191Asn)
c.2984G>A (n.2984G>A)
c.3040G>A (p.Asp1014Asn)
c.3640G>A (p.Asp1214Asn)
c.3145G>A (p.Asp1049Asn)
c.3658G>A (p.Asp1220Asn)
c.3376G>A (p.Asp1126Asn)
c.3520G>A (p.Asp1174Asn)
c.3517G>A (p.Asp1173Asn)
c.3379G>A (p.Asp1127Asn)
c.3052G>A (p.Asp1018Asn)
c.3049G>A (p.Asp1017Asn)
c.3148G>A (p.Asp1050Asn)
c.*3076G>A (n.*3076G>A)
c.2106+182717G>A (n.2106+182717G>A)
n.139G>A
 gnomAD v4
3g.184327424G>CCA355415432EIF2B5,EIF4G1c.3637G>C (p.Asp1213His)
c.3571G>C (p.Asp1191His)
c.2984G>C (n.2984G>C)
c.3040G>C (p.Asp1014His)
c.3640G>C (p.Asp1214His)
c.3145G>C (p.Asp1049His)
c.3658G>C (p.Asp1220His)
c.3376G>C (p.Asp1126His)
c.3520G>C (p.Asp1174His)
c.3517G>C (p.Asp1173His)
c.3379G>C (p.Asp1127His)
c.3052G>C (p.Asp1018His)
c.3049G>C (p.Asp1017His)
c.3148G>C (p.Asp1050His)
c.*3076G>C (n.*3076G>C)
c.2106+182717G>C (n.2106+182717G>C)
n.139G>C
3g.184327424G>TCA355415430EIF2B5,EIF4G1c.3637G>T (p.Asp1213Tyr)
c.3571G>T (p.Asp1191Tyr)
c.2984G>T (n.2984G>T)
c.3040G>T (p.Asp1014Tyr)
c.3640G>T (p.Asp1214Tyr)
c.3145G>T (p.Asp1049Tyr)
c.3658G>T (p.Asp1220Tyr)
c.3376G>T (p.Asp1126Tyr)
c.3520G>T (p.Asp1174Tyr)
c.3517G>T (p.Asp1173Tyr)
c.3379G>T (p.Asp1127Tyr)
c.3052G>T (p.Asp1018Tyr)
c.3049G>T (p.Asp1017Tyr)
c.3148G>T (p.Asp1050Tyr)
c.*3076G>T (n.*3076G>T)
c.2106+182717G>T (n.2106+182717G>T)
n.139G>T
3g.184327425A>CCA355415435EIF2B5,EIF4G1c.3638A>C (p.Asp1213Ala)
c.3572A>C (p.Asp1191Ala)
c.2985A>C (n.2985A>C)
c.3041A>C (p.Asp1014Ala)
c.3641A>C (p.Asp1214Ala)
c.3146A>C (p.Asp1049Ala)
c.3659A>C (p.Asp1220Ala)
c.3377A>C (p.Asp1126Ala)
c.3521A>C (p.Asp1174Ala)
c.3518A>C (p.Asp1173Ala)
c.3380A>C (p.Asp1127Ala)
c.3053A>C (p.Asp1018Ala)
c.3050A>C (p.Asp1017Ala)
c.3149A>C (p.Asp1050Ala)
c.*3077A>C (n.*3077A>C)
c.2106+182718A>C (n.2106+182718A>C)
n.140A>C
3g.184327425A>GCA355415440EIF2B5,EIF4G1c.3638A>G (p.Asp1213Gly)
c.3572A>G (p.Asp1191Gly)
c.2985A>G (n.2985A>G)
c.3041A>G (p.Asp1014Gly)
c.3641A>G (p.Asp1214Gly)
c.3146A>G (p.Asp1049Gly)
c.3659A>G (p.Asp1220Gly)
c.3377A>G (p.Asp1126Gly)
c.3521A>G (p.Asp1174Gly)
c.3518A>G (p.Asp1173Gly)
c.3380A>G (p.Asp1127Gly)
c.3053A>G (p.Asp1018Gly)
c.3050A>G (p.Asp1017Gly)
c.3149A>G (p.Asp1050Gly)
c.*3077A>G (n.*3077A>G)
c.2106+182718A>G (n.2106+182718A>G)
n.140A>G
3g.184327425A>TCA355415437EIF2B5,EIF4G1c.3638A>T (p.Asp1213Val)
c.3572A>T (p.Asp1191Val)
c.2985A>T (n.2985A>T)
c.3041A>T (p.Asp1014Val)
c.3641A>T (p.Asp1214Val)
c.3146A>T (p.Asp1049Val)
c.3659A>T (p.Asp1220Val)
c.3377A>T (p.Asp1126Val)
c.3521A>T (p.Asp1174Val)
c.3518A>T (p.Asp1173Val)
c.3380A>T (p.Asp1127Val)
c.3053A>T (p.Asp1018Val)
c.3050A>T (p.Asp1017Val)
c.3149A>T (p.Asp1050Val)
c.*3077A>T (n.*3077A>T)
c.2106+182718A>T (n.2106+182718A>T)
n.140A>T
3g.184327426T>ACA355415445EIF2B5,EIF4G1c.3639T>A (p.Asp1213Glu)
c.3573T>A (p.Asp1191Glu)
c.2986T>A (n.2986T>A)
c.3042T>A (p.Asp1014Glu)
c.3642T>A (p.Asp1214Glu)
c.3147T>A (p.Asp1049Glu)
c.3660T>A (p.Asp1220Glu)
c.3378T>A (p.Asp1126Glu)
c.3522T>A (p.Asp1174Glu)
c.3519T>A (p.Asp1173Glu)
c.3381T>A (p.Asp1127Glu)
c.3054T>A (p.Asp1018Glu)
c.3051T>A (p.Asp1017Glu)
c.3150T>A (p.Asp1050Glu)
c.*3078T>A (n.*3078T>A)
c.2106+182719T>A (n.2106+182719T>A)
n.141T>A
3g.184327426T>CCA437330677EIF2B5,EIF4G1c.3639T>C (p.Asp1213=)
c.3573T>C (p.Asp1191=)
c.2986T>C (n.2986T>C)
c.3042T>C (p.Asp1014=)
c.3642T>C (p.Asp1214=)
c.3147T>C (p.Asp1049=)
c.3660T>C (p.Asp1220=)
c.3378T>C (p.Asp1126=)
c.3522T>C (p.Asp1174=)
c.3519T>C (p.Asp1173=)
c.3381T>C (p.Asp1127=)
c.3054T>C (p.Asp1018=)
c.3051T>C (p.Asp1017=)
c.3150T>C (p.Asp1050=)
c.*3078T>C (n.*3078T>C)
c.2106+182719T>C (n.2106+182719T>C)
n.141T>C
3g.184327426T>GCA355415446EIF2B5,EIF4G1c.3639T>G (p.Asp1213Glu)
c.3573T>G (p.Asp1191Glu)
c.2986T>G (n.2986T>G)
c.3042T>G (p.Asp1014Glu)
c.3642T>G (p.Asp1214Glu)
c.3147T>G (p.Asp1049Glu)
c.3660T>G (p.Asp1220Glu)
c.3378T>G (p.Asp1126Glu)
c.3522T>G (p.Asp1174Glu)
c.3519T>G (p.Asp1173Glu)
c.3381T>G (p.Asp1127Glu)
c.3054T>G (p.Asp1018Glu)
c.3051T>G (p.Asp1017Glu)
c.3150T>G (p.Asp1050Glu)
c.*3078T>G (n.*3078T>G)
c.2106+182719T>G (n.2106+182719T>G)
n.141T>G
3g.184327427C>ACA437330680EIF2B5,EIF4G1c.3640C>A (p.Arg1214=)
c.3574C>A (p.Arg1192=)
c.2987C>A (n.2987C>A)
c.3043C>A (p.Arg1015=)
c.3643C>A (p.Arg1215=)
c.3148C>A (p.Arg1050=)
c.3661C>A (p.Arg1221=)
c.3379C>A (p.Arg1127=)
c.3523C>A (p.Arg1175=)
c.3520C>A (p.Arg1174=)
c.3382C>A (p.Arg1128=)
c.3055C>A (p.Arg1019=)
c.3052C>A (p.Arg1018=)
c.3151C>A (p.Arg1051=)
c.*3079C>A (n.*3079C>A)
c.2106+182720C>A (n.2106+182720C>A)
n.142C>A
 dbSNP gnomAD v2 gnomAD v4
3g.184327427C=CA1425958441EIF2B5,EIF4G1c.3640C= (p.Arg1214=)
c.3574C= (p.Arg1192=)
c.2987C= (n.2987C=)
c.3043C= (p.Arg1015=)
c.3643C= (p.Arg1215=)
c.3148C= (p.Arg1050=)
c.3661C= (p.Arg1221=)
c.3379C= (p.Arg1127=)
c.3523C= (p.Arg1175=)
c.3520C= (p.Arg1174=)
c.3382C= (p.Arg1128=)
c.3055C= (p.Arg1019=)
c.3052C= (p.Arg1018=)
c.3151C= (p.Arg1051=)
c.*3079C= (n.*3079C=)
c.2106+182720C= (n.2106+182720C=)
n.142C=
3g.184327427C>GCA88867685EIF2B5,EIF4G1c.3640C>G (p.Arg1214Gly)
c.3574C>G (p.Arg1192Gly)
c.2987C>G (n.2987C>G)
c.3043C>G (p.Arg1015Gly)
c.3643C>G (p.Arg1215Gly)
c.3148C>G (p.Arg1050Gly)
c.3661C>G (p.Arg1221Gly)
c.3379C>G (p.Arg1127Gly)
c.3523C>G (p.Arg1175Gly)
c.3520C>G (p.Arg1174Gly)
c.3382C>G (p.Arg1128Gly)
c.3055C>G (p.Arg1019Gly)
c.3052C>G (p.Arg1018Gly)
c.3151C>G (p.Arg1051Gly)
c.*3079C>G (n.*3079C>G)
c.2106+182720C>G (n.2106+182720C>G)
n.142C>G
 dbSNP gnomAD v3 gnomAD v4
3g.184327427C>TCA88867684EIF2B5,EIF4G1c.3640C>T (p.Arg1214Trp)
c.3574C>T (p.Arg1192Trp)
c.2987C>T (n.2987C>T)
c.3043C>T (p.Arg1015Trp)
c.3643C>T (p.Arg1215Trp)
c.3148C>T (p.Arg1050Trp)
c.3661C>T (p.Arg1221Trp)
c.3379C>T (p.Arg1127Trp)
c.3523C>T (p.Arg1175Trp)
c.3520C>T (p.Arg1174Trp)
c.3382C>T (p.Arg1128Trp)
c.3055C>T (p.Arg1019Trp)
c.3052C>T (p.Arg1018Trp)
c.3151C>T (p.Arg1051Trp)
c.*3079C>T (n.*3079C>T)
c.2106+182720C>T (n.2106+182720C>T)
n.142C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
3g.184327428G>ACA2732860EIF2B5,EIF4G1c.3641G>A (p.Arg1214Gln)
c.3575G>A (p.Arg1192Gln)
c.2988G>A (n.2988G>A)
c.3044G>A (p.Arg1015Gln)
c.3644G>A (p.Arg1215Gln)
c.3149G>A (p.Arg1050Gln)
c.3662G>A (p.Arg1221Gln)
c.3380G>A (p.Arg1127Gln)
c.3524G>A (p.Arg1175Gln)
c.3521G>A (p.Arg1174Gln)
c.3383G>A (p.Arg1128Gln)
c.3056G>A (p.Arg1019Gln)
c.3053G>A (p.Arg1018Gln)
c.3152G>A (p.Arg1051Gln)
c.*3080G>A (n.*3080G>A)
c.2106+182721G>A (n.2106+182721G>A)
n.143G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.184327428G>CCA355415447EIF2B5,EIF4G1c.3641G>C (p.Arg1214Pro)
c.3575G>C (p.Arg1192Pro)
c.2988G>C (n.2988G>C)
c.3044G>C (p.Arg1015Pro)
c.3644G>C (p.Arg1215Pro)
c.3149G>C (p.Arg1050Pro)
c.3662G>C (p.Arg1221Pro)
c.3380G>C (p.Arg1127Pro)
c.3524G>C (p.Arg1175Pro)
c.3521G>C (p.Arg1174Pro)
c.3383G>C (p.Arg1128Pro)
c.3056G>C (p.Arg1019Pro)
c.3053G>C (p.Arg1018Pro)
c.3152G>C (p.Arg1051Pro)
c.*3080G>C (n.*3080G>C)
c.2106+182721G>C (n.2106+182721G>C)
n.143G>C
 gnomAD v4
3g.184327428G=CA1425958448EIF2B5,EIF4G1c.3641G= (p.Arg1214=)
c.3575G= (p.Arg1192=)
c.2988G= (n.2988G=)
c.3044G= (p.Arg1015=)
c.3644G= (p.Arg1215=)
c.3149G= (p.Arg1050=)
c.3662G= (p.Arg1221=)
c.3380G= (p.Arg1127=)
c.3524G= (p.Arg1175=)
c.3521G= (p.Arg1174=)
c.3383G= (p.Arg1128=)
c.3056G= (p.Arg1019=)
c.3053G= (p.Arg1018=)
c.3152G= (p.Arg1051=)
c.*3080G= (n.*3080G=)
c.2106+182721G= (n.2106+182721G=)
n.143G=
3g.184327428G>TCA355415448EIF2B5,EIF4G1c.3641G>T (p.Arg1214Leu)
c.3575G>T (p.Arg1192Leu)
c.2988G>T (n.2988G>T)
c.3044G>T (p.Arg1015Leu)
c.3644G>T (p.Arg1215Leu)
c.3149G>T (p.Arg1050Leu)
c.3662G>T (p.Arg1221Leu)
c.3380G>T (p.Arg1127Leu)
c.3524G>T (p.Arg1175Leu)
c.3521G>T (p.Arg1174Leu)
c.3383G>T (p.Arg1128Leu)
c.3056G>T (p.Arg1019Leu)
c.3053G>T (p.Arg1018Leu)
c.3152G>T (p.Arg1051Leu)
c.*3080G>T (n.*3080G>T)
c.2106+182721G>T (n.2106+182721G>T)
n.143G>T
 gnomAD v4
3g.184327430dupCA917083379EIF2B5,EIF4G1c.3643dup (p.Asp1215GlyfsTer25)
c.3577dup (p.Asp1193GlyfsTer25)
c.2990dup (n.2990dup)
c.3046dup (p.Asp1016GlyfsTer25)
c.3646dup (p.Asp1216GlyfsTer25)
c.3151dup (p.Asp1051GlyfsTer25)
c.3664dup (p.Asp1222GlyfsTer25)
c.3382dup (p.Asp1128GlyfsTer25)
c.3526dup (p.Asp1176GlyfsTer25)
c.3523dup (p.Asp1175GlyfsTer25)
c.3385dup (p.Asp1129GlyfsTer25)
c.3058dup (p.Asp1020GlyfsTer25)
c.3055dup (p.Asp1019GlyfsTer25)
c.3154dup (p.Asp1052GlyfsTer25)
c.*3082dup (n.*3082dup)
c.2106+182723dup (n.2106+182723dup)
n.145dup
 dbSNP
3g.184327429G>ACA437330683EIF2B5,EIF4G1c.3642G>A (p.Arg1214=)
c.3576G>A (p.Arg1192=)
c.2989G>A (n.2989G>A)
c.3045G>A (p.Arg1015=)
c.3645G>A (p.Arg1215=)
c.3150G>A (p.Arg1050=)
c.3663G>A (p.Arg1221=)
c.3381G>A (p.Arg1127=)
c.3525G>A (p.Arg1175=)
c.3522G>A (p.Arg1174=)
c.3384G>A (p.Arg1128=)
c.3057G>A (p.Arg1019=)
c.3054G>A (p.Arg1018=)
c.3153G>A (p.Arg1051=)
c.*3081G>A (n.*3081G>A)
c.2106+182722G>A (n.2106+182722G>A)
n.144G>A
3g.184327429G>CCA437330684EIF2B5,EIF4G1c.3642G>C (p.Arg1214=)
c.3576G>C (p.Arg1192=)
c.2989G>C (n.2989G>C)
c.3045G>C (p.Arg1015=)
c.3645G>C (p.Arg1215=)
c.3150G>C (p.Arg1050=)
c.3663G>C (p.Arg1221=)
c.3381G>C (p.Arg1127=)
c.3525G>C (p.Arg1175=)
c.3522G>C (p.Arg1174=)
c.3384G>C (p.Arg1128=)
c.3057G>C (p.Arg1019=)
c.3054G>C (p.Arg1018=)
c.3153G>C (p.Arg1051=)
c.*3081G>C (n.*3081G>C)
c.2106+182722G>C (n.2106+182722G>C)
n.144G>C
 gnomAD v4
3g.184327429G>TCA437330685EIF2B5,EIF4G1c.3642G>T (p.Arg1214=)
c.3576G>T (p.Arg1192=)
c.2989G>T (n.2989G>T)
c.3045G>T (p.Arg1015=)
c.3645G>T (p.Arg1215=)
c.3150G>T (p.Arg1050=)
c.3663G>T (p.Arg1221=)
c.3381G>T (p.Arg1127=)
c.3525G>T (p.Arg1175=)
c.3522G>T (p.Arg1174=)
c.3384G>T (p.Arg1128=)
c.3057G>T (p.Arg1019=)
c.3054G>T (p.Arg1018=)
c.3153G>T (p.Arg1051=)
c.*3081G>T (n.*3081G>T)
c.2106+182722G>T (n.2106+182722G>T)
n.144G>T
3g.184327430G>ACA355415449EIF2B5,EIF4G1c.3643G>A (p.Asp1215Asn)
c.3577G>A (p.Asp1193Asn)
c.2990G>A (n.2990G>A)
c.3046G>A (p.Asp1016Asn)
c.3646G>A (p.Asp1216Asn)
c.3151G>A (p.Asp1051Asn)
c.3664G>A (p.Asp1222Asn)
c.3382G>A (p.Asp1128Asn)
c.3526G>A (p.Asp1176Asn)
c.3523G>A (p.Asp1175Asn)
c.3385G>A (p.Asp1129Asn)
c.3058G>A (p.Asp1020Asn)
c.3055G>A (p.Asp1019Asn)
c.3154G>A (p.Asp1052Asn)
c.*3082G>A (n.*3082G>A)
c.2106+182723G>A (n.2106+182723G>A)
n.145G>A
 dbSNP gnomAD v3 gnomAD v4
3g.184327430G>CCA355415450EIF2B5,EIF4G1c.3643G>C (p.Asp1215His)
c.3577G>C (p.Asp1193His)
c.2990G>C (n.2990G>C)
c.3046G>C (p.Asp1016His)
c.3646G>C (p.Asp1216His)
c.3151G>C (p.Asp1051His)
c.3664G>C (p.Asp1222His)
c.3382G>C (p.Asp1128His)
c.3526G>C (p.Asp1176His)
c.3523G>C (p.Asp1175His)
c.3385G>C (p.Asp1129His)
c.3058G>C (p.Asp1020His)
c.3055G>C (p.Asp1019His)
c.3154G>C (p.Asp1052His)
c.*3082G>C (n.*3082G>C)
c.2106+182723G>C (n.2106+182723G>C)
n.145G>C
3g.184327430G=CA1425958452EIF2B5,EIF4G1c.3643G= (p.Asp1215=)
c.3577G= (p.Asp1193=)
c.2990G= (n.2990G=)
c.3046G= (p.Asp1016=)
c.3646G= (p.Asp1216=)
c.3151G= (p.Asp1051=)
c.3664G= (p.Asp1222=)
c.3382G= (p.Asp1128=)
c.3526G= (p.Asp1176=)
c.3523G= (p.Asp1175=)
c.3385G= (p.Asp1129=)
c.3058G= (p.Asp1020=)
c.3055G= (p.Asp1019=)
c.3154G= (p.Asp1052=)
c.*3082G= (n.*3082G=)
c.2106+182723G= (n.2106+182723G=)
n.145G=
3g.184327430G>TCA355415451EIF2B5,EIF4G1c.3643G>T (p.Asp1215Tyr)
c.3577G>T (p.Asp1193Tyr)
c.2990G>T (n.2990G>T)
c.3046G>T (p.Asp1016Tyr)
c.3646G>T (p.Asp1216Tyr)
c.3151G>T (p.Asp1051Tyr)
c.3664G>T (p.Asp1222Tyr)
c.3382G>T (p.Asp1128Tyr)
c.3526G>T (p.Asp1176Tyr)
c.3523G>T (p.Asp1175Tyr)
c.3385G>T (p.Asp1129Tyr)
c.3058G>T (p.Asp1020Tyr)
c.3055G>T (p.Asp1019Tyr)
c.3154G>T (p.Asp1052Tyr)
c.*3082G>T (n.*3082G>T)
c.2106+182723G>T (n.2106+182723G>T)
n.145G>T
 gnomAD v4
3g.184327431A>CCA355415452EIF2B5,EIF4G1c.3644A>C (p.Asp1215Ala)
c.3578A>C (p.Asp1193Ala)
c.2991A>C (n.2991A>C)
c.3047A>C (p.Asp1016Ala)
c.3647A>C (p.Asp1216Ala)
c.3152A>C (p.Asp1051Ala)
c.3665A>C (p.Asp1222Ala)
c.3383A>C (p.Asp1128Ala)
c.3527A>C (p.Asp1176Ala)
c.3524A>C (p.Asp1175Ala)
c.3386A>C (p.Asp1129Ala)
c.3059A>C (p.Asp1020Ala)
c.3056A>C (p.Asp1019Ala)
c.3155A>C (p.Asp1052Ala)
c.*3083A>C (n.*3083A>C)
c.2106+182724A>C (n.2106+182724A>C)
n.146A>C
3g.184327431A>GCA355415453EIF2B5,EIF4G1c.3644A>G (p.Asp1215Gly)
c.3578A>G (p.Asp1193Gly)
c.2991A>G (n.2991A>G)
c.3047A>G (p.Asp1016Gly)
c.3647A>G (p.Asp1216Gly)
c.3152A>G (p.Asp1051Gly)
c.3665A>G (p.Asp1222Gly)
c.3383A>G (p.Asp1128Gly)
c.3527A>G (p.Asp1176Gly)
c.3524A>G (p.Asp1175Gly)
c.3386A>G (p.Asp1129Gly)
c.3059A>G (p.Asp1020Gly)
c.3056A>G (p.Asp1019Gly)
c.3155A>G (p.Asp1052Gly)
c.*3083A>G (n.*3083A>G)
c.2106+182724A>G (n.2106+182724A>G)
n.146A>G
3g.184327431A>TCA355415454EIF2B5,EIF4G1c.3644A>T (p.Asp1215Val)
c.3578A>T (p.Asp1193Val)
c.2991A>T (n.2991A>T)
c.3047A>T (p.Asp1016Val)
c.3647A>T (p.Asp1216Val)
c.3152A>T (p.Asp1051Val)
c.3665A>T (p.Asp1222Val)
c.3383A>T (p.Asp1128Val)
c.3527A>T (p.Asp1176Val)
c.3524A>T (p.Asp1175Val)
c.3386A>T (p.Asp1129Val)
c.3059A>T (p.Asp1020Val)
c.3056A>T (p.Asp1019Val)
c.3155A>T (p.Asp1052Val)
c.*3083A>T (n.*3083A>T)
c.2106+182724A>T (n.2106+182724A>T)
n.146A>T
3g.184327432C>ACA355415455EIF2B5,EIF4G1c.3645C>A (p.Asp1215Glu)
c.3579C>A (p.Asp1193Glu)
c.2992C>A (n.2992C>A)
c.3048C>A (p.Asp1016Glu)
c.3648C>A (p.Asp1216Glu)
c.3153C>A (p.Asp1051Glu)
c.3666C>A (p.Asp1222Glu)
c.3384C>A (p.Asp1128Glu)
c.3528C>A (p.Asp1176Glu)
c.3525C>A (p.Asp1175Glu)
c.3387C>A (p.Asp1129Glu)
c.3060C>A (p.Asp1020Glu)
c.3057C>A (p.Asp1019Glu)
c.3156C>A (p.Asp1052Glu)
c.*3084C>A (n.*3084C>A)
c.2106+182725C>A (n.2106+182725C>A)
n.147C>A
3g.184327432C>GCA355415456EIF2B5,EIF4G1c.3645C>G (p.Asp1215Glu)
c.3579C>G (p.Asp1193Glu)
c.2992C>G (n.2992C>G)
c.3048C>G (p.Asp1016Glu)
c.3648C>G (p.Asp1216Glu)
c.3153C>G (p.Asp1051Glu)
c.3666C>G (p.Asp1222Glu)
c.3384C>G (p.Asp1128Glu)
c.3528C>G (p.Asp1176Glu)
c.3525C>G (p.Asp1175Glu)
c.3387C>G (p.Asp1129Glu)
c.3060C>G (p.Asp1020Glu)
c.3057C>G (p.Asp1019Glu)
c.3156C>G (p.Asp1052Glu)
c.*3084C>G (n.*3084C>G)
c.2106+182725C>G (n.2106+182725C>G)
n.147C>G
3g.184327432C>TCA437330691EIF2B5,EIF4G1c.3645C>T (p.Asp1215=)
c.3579C>T (p.Asp1193=)
c.2992C>T (n.2992C>T)
c.3048C>T (p.Asp1016=)
c.3648C>T (p.Asp1216=)
c.3153C>T (p.Asp1051=)
c.3666C>T (p.Asp1222=)
c.3384C>T (p.Asp1128=)
c.3528C>T (p.Asp1176=)
c.3525C>T (p.Asp1175=)
c.3387C>T (p.Asp1129=)
c.3060C>T (p.Asp1020=)
c.3057C>T (p.Asp1019=)
c.3156C>T (p.Asp1052=)
c.*3084C>T (n.*3084C>T)
c.2106+182725C>T (n.2106+182725C>T)
n.147C>T
3g.184327433C>ACA355415457EIF2B5,EIF4G1c.3646C>A (p.Arg1216Ser)
c.3580C>A (p.Arg1194Ser)
c.2993C>A (n.2993C>A)
c.3049C>A (p.Arg1017Ser)
c.3649C>A (p.Arg1217Ser)
c.3154C>A (p.Arg1052Ser)
c.3667C>A (p.Arg1223Ser)
c.3385C>A (p.Arg1129Ser)
c.3529C>A (p.Arg1177Ser)
c.3526C>A (p.Arg1176Ser)
c.3388C>A (p.Arg1130Ser)
c.3061C>A (p.Arg1021Ser)
c.3058C>A (p.Arg1020Ser)
c.3157C>A (p.Arg1053Ser)
c.*3085C>A (n.*3085C>A)
c.2106+182726C>A (n.2106+182726C>A)
n.148C>A
3g.184327433C=CA1425958454EIF2B5,EIF4G1c.3646C= (p.Arg1216=)
c.3580C= (p.Arg1194=)
c.2993C= (n.2993C=)
c.3049C= (p.Arg1017=)
c.3649C= (p.Arg1217=)
c.3154C= (p.Arg1052=)
c.3667C= (p.Arg1223=)
c.3385C= (p.Arg1129=)
c.3529C= (p.Arg1177=)
c.3526C= (p.Arg1176=)
c.3388C= (p.Arg1130=)
c.3061C= (p.Arg1021=)
c.3058C= (p.Arg1020=)
c.3157C= (p.Arg1053=)
c.*3085C= (n.*3085C=)
c.2106+182726C= (n.2106+182726C=)
n.148C=
3g.184327433C>GCA355415458EIF2B5,EIF4G1c.3646C>G (p.Arg1216Gly)
c.3580C>G (p.Arg1194Gly)
c.2993C>G (n.2993C>G)
c.3049C>G (p.Arg1017Gly)
c.3649C>G (p.Arg1217Gly)
c.3154C>G (p.Arg1052Gly)
c.3667C>G (p.Arg1223Gly)
c.3385C>G (p.Arg1129Gly)
c.3529C>G (p.Arg1177Gly)
c.3526C>G (p.Arg1176Gly)
c.3388C>G (p.Arg1130Gly)
c.3061C>G (p.Arg1021Gly)
c.3058C>G (p.Arg1020Gly)
c.3157C>G (p.Arg1053Gly)
c.*3085C>G (n.*3085C>G)
c.2106+182726C>G (n.2106+182726C>G)
n.148C>G
3g.184327433C>TCA2732861EIF2B5,EIF4G1c.3646C>T (p.Arg1216Cys)
c.3580C>T (p.Arg1194Cys)
c.2993C>T (n.2993C>T)
c.3049C>T (p.Arg1017Cys)
c.3649C>T (p.Arg1217Cys)
c.3154C>T (p.Arg1052Cys)
c.3667C>T (p.Arg1223Cys)
c.3385C>T (p.Arg1129Cys)
c.3529C>T (p.Arg1177Cys)
c.3526C>T (p.Arg1176Cys)
c.3388C>T (p.Arg1130Cys)
c.3061C>T (p.Arg1021Cys)
c.3058C>T (p.Arg1020Cys)
c.3157C>T (p.Arg1053Cys)
c.*3085C>T (n.*3085C>T)
c.2106+182726C>T (n.2106+182726C>T)
n.148C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.184327434G>ACA2732862EIF2B5,EIF4G1c.3647G>A (p.Arg1216His)
c.3581G>A (p.Arg1194His)
c.2994G>A (n.2994G>A)
c.3050G>A (p.Arg1017His)
c.3650G>A (p.Arg1217His)
c.3155G>A (p.Arg1052His)
c.3668G>A (p.Arg1223His)
c.3386G>A (p.Arg1129His)
c.3530G>A (p.Arg1177His)
c.3527G>A (p.Arg1176His)
c.3389G>A (p.Arg1130His)
c.3062G>A (p.Arg1021His)
c.3059G>A (p.Arg1020His)
c.3158G>A (p.Arg1053His)
c.*3086G>A (n.*3086G>A)
c.2106+182727G>A (n.2106+182727G>A)
n.149G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.184327434G>CCA355415461EIF2B5,EIF4G1c.3647G>C (p.Arg1216Pro)
c.3581G>C (p.Arg1194Pro)
c.2994G>C (n.2994G>C)
c.3050G>C (p.Arg1017Pro)
c.3650G>C (p.Arg1217Pro)
c.3155G>C (p.Arg1052Pro)
c.3668G>C (p.Arg1223Pro)
c.3386G>C (p.Arg1129Pro)
c.3530G>C (p.Arg1177Pro)
c.3527G>C (p.Arg1176Pro)
c.3389G>C (p.Arg1130Pro)
c.3062G>C (p.Arg1021Pro)
c.3059G>C (p.Arg1020Pro)
c.3158G>C (p.Arg1053Pro)
c.*3086G>C (n.*3086G>C)
c.2106+182727G>C (n.2106+182727G>C)
n.149G>C
3g.184327434G=CA1425958457EIF2B5,EIF4G1c.3647G= (p.Arg1216=)
c.3581G= (p.Arg1194=)
c.2994G= (n.2994G=)
c.3050G= (p.Arg1017=)
c.3650G= (p.Arg1217=)
c.3155G= (p.Arg1052=)
c.3668G= (p.Arg1223=)
c.3386G= (p.Arg1129=)
c.3530G= (p.Arg1177=)
c.3527G= (p.Arg1176=)
c.3389G= (p.Arg1130=)
c.3062G= (p.Arg1021=)
c.3059G= (p.Arg1020=)
c.3158G= (p.Arg1053=)
c.*3086G= (n.*3086G=)
c.2106+182727G= (n.2106+182727G=)
n.149G=
3g.184327434G>TCA355415464EIF2B5,EIF4G1c.3647G>T (p.Arg1216Leu)
c.3581G>T (p.Arg1194Leu)
c.2994G>T (n.2994G>T)
c.3050G>T (p.Arg1017Leu)
c.3650G>T (p.Arg1217Leu)
c.3155G>T (p.Arg1052Leu)
c.3668G>T (p.Arg1223Leu)
c.3386G>T (p.Arg1129Leu)
c.3530G>T (p.Arg1177Leu)
c.3527G>T (p.Arg1176Leu)
c.3389G>T (p.Arg1130Leu)
c.3062G>T (p.Arg1021Leu)
c.3059G>T (p.Arg1020Leu)
c.3158G>T (p.Arg1053Leu)
c.*3086G>T (n.*3086G>T)
c.2106+182727G>T (n.2106+182727G>T)
n.149G>T
3g.184327435T>ACA437330697EIF2B5,EIF4G1c.3648T>A (p.Arg1216=)
c.3582T>A (p.Arg1194=)
c.2995T>A (n.2995T>A)
c.3051T>A (p.Arg1017=)
c.3651T>A (p.Arg1217=)
c.3156T>A (p.Arg1052=)
c.3669T>A (p.Arg1223=)
c.3387T>A (p.Arg1129=)
c.3531T>A (p.Arg1177=)
c.3528T>A (p.Arg1176=)
c.3390T>A (p.Arg1130=)
c.3063T>A (p.Arg1021=)
c.3060T>A (p.Arg1020=)
c.3159T>A (p.Arg1053=)
c.*3087T>A (n.*3087T>A)
c.2106+182728T>A (n.2106+182728T>A)
n.150T>A
3g.184327435T>CCA2732863EIF2B5,EIF4G1c.3648T>C (p.Arg1216=)
c.3582T>C (p.Arg1194=)
c.2995T>C (n.2995T>C)
c.3051T>C (p.Arg1017=)
c.3651T>C (p.Arg1217=)
c.3156T>C (p.Arg1052=)
c.3669T>C (p.Arg1223=)
c.3387T>C (p.Arg1129=)
c.3531T>C (p.Arg1177=)
c.3528T>C (p.Arg1176=)
c.3390T>C (p.Arg1130=)
c.3063T>C (p.Arg1021=)
c.3060T>C (p.Arg1020=)
c.3159T>C (p.Arg1053=)
c.*3087T>C (n.*3087T>C)
c.2106+182728T>C (n.2106+182728T>C)
n.150T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.184327435T>GCA437330703EIF2B5,EIF4G1c.3648T>G (p.Arg1216=)
c.3582T>G (p.Arg1194=)
c.2995T>G (n.2995T>G)
c.3051T>G (p.Arg1017=)
c.3651T>G (p.Arg1217=)
c.3156T>G (p.Arg1052=)
c.3669T>G (p.Arg1223=)
c.3387T>G (p.Arg1129=)
c.3531T>G (p.Arg1177=)
c.3528T>G (p.Arg1176=)
c.3390T>G (p.Arg1130=)
c.3063T>G (p.Arg1021=)
c.3060T>G (p.Arg1020=)
c.3159T>G (p.Arg1053=)
c.*3087T>G (n.*3087T>G)
c.2106+182728T>G (n.2106+182728T>G)
n.150T>G
3g.184327435T=CA1425958459EIF2B5,EIF4G1c.3648T= (p.Arg1216=)
c.3582T= (p.Arg1194=)
c.2995T= (n.2995T=)
c.3051T= (p.Arg1017=)
c.3651T= (p.Arg1217=)
c.3156T= (p.Arg1052=)
c.3669T= (p.Arg1223=)
c.3387T= (p.Arg1129=)
c.3531T= (p.Arg1177=)
c.3528T= (p.Arg1176=)
c.3390T= (p.Arg1130=)
c.3063T= (p.Arg1021=)
c.3060T= (p.Arg1020=)
c.3159T= (p.Arg1053=)
c.*3087T= (n.*3087T=)
c.2106+182728T= (n.2106+182728T=)
n.150T=
3g.184327436G>ACA88867723EIF2B5,EIF4G1c.3649G>A (p.Gly1217Arg)
c.3583G>A (p.Gly1195Arg)
c.2996G>A (n.2996G>A)
c.3052G>A (p.Gly1018Arg)
c.3652G>A (p.Gly1218Arg)
c.3157G>A (p.Gly1053Arg)
c.3670G>A (p.Gly1224Arg)
c.3388G>A (p.Gly1130Arg)
c.3532G>A (p.Gly1178Arg)
c.3529G>A (p.Gly1177Arg)
c.3391G>A (p.Gly1131Arg)
c.3064G>A (p.Gly1022Arg)
c.3061G>A (p.Gly1021Arg)
c.3160G>A (p.Gly1054Arg)
c.*3088G>A (n.*3088G>A)
c.2106+182729G>A (n.2106+182729G>A)
n.151G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.184327436G>CCA355415470EIF2B5,EIF4G1c.3649G>C (p.Gly1217Arg)
c.3583G>C (p.Gly1195Arg)
c.2996G>C (n.2996G>C)
c.3052G>C (p.Gly1018Arg)
c.3652G>C (p.Gly1218Arg)
c.3157G>C (p.Gly1053Arg)
c.3670G>C (p.Gly1224Arg)
c.3388G>C (p.Gly1130Arg)
c.3532G>C (p.Gly1178Arg)
c.3529G>C (p.Gly1177Arg)
c.3391G>C (p.Gly1131Arg)
c.3064G>C (p.Gly1022Arg)
c.3061G>C (p.Gly1021Arg)
c.3160G>C (p.Gly1054Arg)
c.*3088G>C (n.*3088G>C)
c.2106+182729G>C (n.2106+182729G>C)
n.151G>C
3g.184327436G=CA1425958461EIF2B5,EIF4G1c.3649G= (p.Gly1217=)
c.3583G= (p.Gly1195=)
c.2996G= (n.2996G=)
c.3052G= (p.Gly1018=)
c.3652G= (p.Gly1218=)
c.3157G= (p.Gly1053=)
c.3670G= (p.Gly1224=)
c.3388G= (p.Gly1130=)
c.3532G= (p.Gly1178=)
c.3529G= (p.Gly1177=)
c.3391G= (p.Gly1131=)
c.3064G= (p.Gly1022=)
c.3061G= (p.Gly1021=)
c.3160G= (p.Gly1054=)
c.*3088G= (n.*3088G=)
c.2106+182729G= (n.2106+182729G=)
n.151G=
3g.184327436G>TCA355415472EIF2B5,EIF4G1c.3649G>T (p.Gly1217Trp)
c.3583G>T (p.Gly1195Trp)
c.2996G>T (n.2996G>T)
c.3052G>T (p.Gly1018Trp)
c.3652G>T (p.Gly1218Trp)
c.3157G>T (p.Gly1053Trp)
c.3670G>T (p.Gly1224Trp)
c.3388G>T (p.Gly1130Trp)
c.3532G>T (p.Gly1178Trp)
c.3529G>T (p.Gly1177Trp)
c.3391G>T (p.Gly1131Trp)
c.3064G>T (p.Gly1022Trp)
c.3061G>T (p.Gly1021Trp)
c.3160G>T (p.Gly1054Trp)
c.*3088G>T (n.*3088G>T)
c.2106+182729G>T (n.2106+182729G>T)
n.151G>T
3g.184327437G>ACA355415480EIF2B5,EIF4G1c.3650G>A (p.Gly1217Glu)
c.3584G>A (p.Gly1195Glu)
c.2997G>A (n.2997G>A)
c.3053G>A (p.Gly1018Glu)
c.3653G>A (p.Gly1218Glu)
c.3158G>A (p.Gly1053Glu)
c.3671G>A (p.Gly1224Glu)
c.3389G>A (p.Gly1130Glu)
c.3533G>A (p.Gly1178Glu)
c.3530G>A (p.Gly1177Glu)
c.3392G>A (p.Gly1131Glu)
c.3065G>A (p.Gly1022Glu)
c.3062G>A (p.Gly1021Glu)
c.3161G>A (p.Gly1054Glu)
c.*3089G>A (n.*3089G>A)
c.2106+182730G>A (n.2106+182730G>A)
n.152G>A
 dbSNP gnomAD v2 gnomAD v4
3g.184327437G>CCA355415478EIF2B5,EIF4G1c.3650G>C (p.Gly1217Ala)
c.3584G>C (p.Gly1195Ala)
c.2997G>C (n.2997G>C)
c.3053G>C (p.Gly1018Ala)
c.3653G>C (p.Gly1218Ala)
c.3158G>C (p.Gly1053Ala)
c.3671G>C (p.Gly1224Ala)
c.3389G>C (p.Gly1130Ala)
c.3533G>C (p.Gly1178Ala)
c.3530G>C (p.Gly1177Ala)
c.3392G>C (p.Gly1131Ala)
c.3065G>C (p.Gly1022Ala)
c.3062G>C (p.Gly1021Ala)
c.3161G>C (p.Gly1054Ala)
c.*3089G>C (n.*3089G>C)
c.2106+182730G>C (n.2106+182730G>C)
n.152G>C
3g.184327437G=CA1425958463EIF2B5,EIF4G1c.3650G= (p.Gly1217=)
c.3584G= (p.Gly1195=)
c.2997G= (n.2997G=)
c.3053G= (p.Gly1018=)
c.3653G= (p.Gly1218=)
c.3158G= (p.Gly1053=)
c.3671G= (p.Gly1224=)
c.3389G= (p.Gly1130=)
c.3533G= (p.Gly1178=)
c.3530G= (p.Gly1177=)
c.3392G= (p.Gly1131=)
c.3065G= (p.Gly1022=)
c.3062G= (p.Gly1021=)
c.3161G= (p.Gly1054=)
c.*3089G= (n.*3089G=)
c.2106+182730G= (n.2106+182730G=)
n.152G=
3g.184327437G>TCA355415476EIF2B5,EIF4G1c.3650G>T (p.Gly1217Val)
c.3584G>T (p.Gly1195Val)
c.2997G>T (n.2997G>T)
c.3053G>T (p.Gly1018Val)
c.3653G>T (p.Gly1218Val)
c.3158G>T (p.Gly1053Val)
c.3671G>T (p.Gly1224Val)
c.3389G>T (p.Gly1130Val)
c.3533G>T (p.Gly1178Val)
c.3530G>T (p.Gly1177Val)
c.3392G>T (p.Gly1131Val)
c.3065G>T (p.Gly1022Val)
c.3062G>T (p.Gly1021Val)
c.3161G>T (p.Gly1054Val)
c.*3089G>T (n.*3089G>T)
c.2106+182730G>T (n.2106+182730G>T)
n.152G>T
3g.184327438G>ACA437330708EIF2B5,EIF4G1c.3651G>A (p.Gly1217=)
c.3585G>A (p.Gly1195=)
c.2998G>A (n.2998G>A)
c.3054G>A (p.Gly1018=)
c.3654G>A (p.Gly1218=)
c.3159G>A (p.Gly1053=)
c.3672G>A (p.Gly1224=)
c.3390G>A (p.Gly1130=)
c.3534G>A (p.Gly1178=)
c.3531G>A (p.Gly1177=)
c.3393G>A (p.Gly1131=)
c.3066G>A (p.Gly1022=)
c.3063G>A (p.Gly1021=)
c.3162G>A (p.Gly1054=)
c.*3090G>A (n.*3090G>A)
c.2106+182731G>A (n.2106+182731G>A)
n.153G>A
 dbSNP gnomAD v2 gnomAD v4
3g.184327438G>CCA437330706EIF2B5,EIF4G1c.3651G>C (p.Gly1217=)
c.3585G>C (p.Gly1195=)
c.2998G>C (n.2998G>C)
c.3054G>C (p.Gly1018=)
c.3654G>C (p.Gly1218=)
c.3159G>C (p.Gly1053=)
c.3672G>C (p.Gly1224=)
c.3390G>C (p.Gly1130=)
c.3534G>C (p.Gly1178=)
c.3531G>C (p.Gly1177=)
c.3393G>C (p.Gly1131=)
c.3066G>C (p.Gly1022=)
c.3063G>C (p.Gly1021=)
c.3162G>C (p.Gly1054=)
c.*3090G>C (n.*3090G>C)
c.2106+182731G>C (n.2106+182731G>C)
n.153G>C
3g.184327438G=CA1425958465EIF2B5,EIF4G1c.3651G= (p.Gly1217=)
c.3585G= (p.Gly1195=)
c.2998G= (n.2998G=)
c.3054G= (p.Gly1018=)
c.3654G= (p.Gly1218=)
c.3159G= (p.Gly1053=)
c.3672G= (p.Gly1224=)
c.3390G= (p.Gly1130=)
c.3534G= (p.Gly1178=)
c.3531G= (p.Gly1177=)
c.3393G= (p.Gly1131=)
c.3066G= (p.Gly1022=)
c.3063G= (p.Gly1021=)
c.3162G= (p.Gly1054=)
c.*3090G= (n.*3090G=)
c.2106+182731G= (n.2106+182731G=)
n.153G=
3g.184327438G>TCA437330705EIF2B5,EIF4G1c.3651G>T (p.Gly1217=)
c.3585G>T (p.Gly1195=)
c.2998G>T (n.2998G>T)
c.3054G>T (p.Gly1018=)
c.3654G>T (p.Gly1218=)
c.3159G>T (p.Gly1053=)
c.3672G>T (p.Gly1224=)
c.3390G>T (p.Gly1130=)
c.3534G>T (p.Gly1178=)
c.3531G>T (p.Gly1177=)
c.3393G>T (p.Gly1131=)
c.3066G>T (p.Gly1022=)
c.3063G>T (p.Gly1021=)
c.3162G>T (p.Gly1054=)
c.*3090G>T (n.*3090G>T)
c.2106+182731G>T (n.2106+182731G>T)
n.153G>T
3g.184327439C>ACA437330710EIF2B5,EIF4G1c.3652C>A (p.Arg1218=)
c.3586C>A (p.Arg1196=)
c.2999C>A (n.2999C>A)
c.3055C>A (p.Arg1019=)
c.3655C>A (p.Arg1219=)
c.3160C>A (p.Arg1054=)
c.3673C>A (p.Arg1225=)
c.3391C>A (p.Arg1131=)
c.3535C>A (p.Arg1179=)
c.3532C>A (p.Arg1178=)
c.3394C>A (p.Arg1132=)
c.3067C>A (p.Arg1023=)
c.3064C>A (p.Arg1022=)
c.3163C>A (p.Arg1055=)
c.*3091C>A (n.*3091C>A)
c.2106+182732C>A (n.2106+182732C>A)
n.154C>A
 gnomAD v4
3g.184327439C=CA1425958469EIF2B5,EIF4G1c.3652C= (p.Arg1218=)
c.3586C= (p.Arg1196=)
c.2999C= (n.2999C=)
c.3055C= (p.Arg1019=)
c.3655C= (p.Arg1219=)
c.3160C= (p.Arg1054=)
c.3673C= (p.Arg1225=)
c.3391C= (p.Arg1131=)
c.3535C= (p.Arg1179=)
c.3532C= (p.Arg1178=)
c.3394C= (p.Arg1132=)
c.3067C= (p.Arg1023=)
c.3064C= (p.Arg1022=)
c.3163C= (p.Arg1055=)
c.*3091C= (n.*3091C=)
c.2106+182732C= (n.2106+182732C=)
n.154C=
3g.184327439C>GCA355415482EIF2B5,EIF4G1c.3652C>G (p.Arg1218Gly)
c.3586C>G (p.Arg1196Gly)
c.2999C>G (n.2999C>G)
c.3055C>G (p.Arg1019Gly)
c.3655C>G (p.Arg1219Gly)
c.3160C>G (p.Arg1054Gly)
c.3673C>G (p.Arg1225Gly)
c.3391C>G (p.Arg1131Gly)
c.3535C>G (p.Arg1179Gly)
c.3532C>G (p.Arg1178Gly)
c.3394C>G (p.Arg1132Gly)
c.3067C>G (p.Arg1023Gly)
c.3064C>G (p.Arg1022Gly)
c.3163C>G (p.Arg1055Gly)
c.*3091C>G (n.*3091C>G)
c.2106+182732C>G (n.2106+182732C>G)
n.154C>G
3g.184327439C>TCA2732864EIF2B5,EIF4G1c.3652C>T (p.Arg1218Trp)
c.3586C>T (p.Arg1196Trp)
c.2999C>T (n.2999C>T)
c.3055C>T (p.Arg1019Trp)
c.3655C>T (p.Arg1219Trp)
c.3160C>T (p.Arg1054Trp)
c.3673C>T (p.Arg1225Trp)
c.3391C>T (p.Arg1131Trp)
c.3535C>T (p.Arg1179Trp)
c.3532C>T (p.Arg1178Trp)
c.3394C>T (p.Arg1132Trp)
c.3067C>T (p.Arg1023Trp)
c.3064C>T (p.Arg1022Trp)
c.3163C>T (p.Arg1055Trp)
c.*3091C>T (n.*3091C>T)
c.2106+182732C>T (n.2106+182732C>T)
n.154C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
3g.184327440G>ACA2732865EIF2B5,EIF4G1c.3653G>A (p.Arg1218Gln)
c.3587G>A (p.Arg1196Gln)
c.3000G>A (n.3000G>A)
c.3056G>A (p.Arg1019Gln)
c.3656G>A (p.Arg1219Gln)
c.3161G>A (p.Arg1054Gln)
c.3674G>A (p.Arg1225Gln)
c.3392G>A (p.Arg1131Gln)
c.3536G>A (p.Arg1179Gln)
c.3533G>A (p.Arg1178Gln)
c.3395G>A (p.Arg1132Gln)
c.3068G>A (p.Arg1023Gln)
c.3065G>A (p.Arg1022Gln)
c.3164G>A (p.Arg1055Gln)
c.*3092G>A (n.*3092G>A)
c.2106+182733G>A (n.2106+182733G>A)
n.155G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.184327440G>CCA355415487EIF2B5,EIF4G1c.3653G>C (p.Arg1218Pro)
c.3587G>C (p.Arg1196Pro)
c.3000G>C (n.3000G>C)
c.3056G>C (p.Arg1019Pro)
c.3656G>C (p.Arg1219Pro)
c.3161G>C (p.Arg1054Pro)
c.3674G>C (p.Arg1225Pro)
c.3392G>C (p.Arg1131Pro)
c.3536G>C (p.Arg1179Pro)
c.3533G>C (p.Arg1178Pro)
c.3395G>C (p.Arg1132Pro)
c.3068G>C (p.Arg1023Pro)
c.3065G>C (p.Arg1022Pro)
c.3164G>C (p.Arg1055Pro)
c.*3092G>C (n.*3092G>C)
c.2106+182733G>C (n.2106+182733G>C)
n.155G>C
3g.184327440G=CA1425958471EIF2B5,EIF4G1c.3653G= (p.Arg1218=)
c.3587G= (p.Arg1196=)
c.3000G= (n.3000G=)
c.3056G= (p.Arg1019=)
c.3656G= (p.Arg1219=)
c.3161G= (p.Arg1054=)
c.3674G= (p.Arg1225=)
c.3392G= (p.Arg1131=)
c.3536G= (p.Arg1179=)
c.3533G= (p.Arg1178=)
c.3395G= (p.Arg1132=)
c.3068G= (p.Arg1023=)
c.3065G= (p.Arg1022=)
c.3164G= (p.Arg1055=)
c.*3092G= (n.*3092G=)
c.2106+182733G= (n.2106+182733G=)
n.155G=
3g.184327440G>TCA355415489EIF2B5,EIF4G1c.3653G>T (p.Arg1218Leu)
c.3587G>T (p.Arg1196Leu)
c.3000G>T (n.3000G>T)
c.3056G>T (p.Arg1019Leu)
c.3656G>T (p.Arg1219Leu)
c.3161G>T (p.Arg1054Leu)
c.3674G>T (p.Arg1225Leu)
c.3392G>T (p.Arg1131Leu)
c.3536G>T (p.Arg1179Leu)
c.3533G>T (p.Arg1178Leu)
c.3395G>T (p.Arg1132Leu)
c.3068G>T (p.Arg1023Leu)
c.3065G>T (p.Arg1022Leu)
c.3164G>T (p.Arg1055Leu)
c.*3092G>T (n.*3092G>T)
c.2106+182733G>T (n.2106+182733G>T)
n.155G>T
 ClinVar gnomAD v4
3g.184327441G>ACA2732866EIF2B5,EIF4G1c.3654G>A (p.Arg1218=)
c.3588G>A (p.Arg1196=)
c.3001G>A (n.3001G>A)
c.3057G>A (p.Arg1019=)
c.3657G>A (p.Arg1219=)
c.3162G>A (p.Arg1054=)
c.3675G>A (p.Arg1225=)
c.3393G>A (p.Arg1131=)
c.3537G>A (p.Arg1179=)
c.3534G>A (p.Arg1178=)
c.3396G>A (p.Arg1132=)
c.3069G>A (p.Arg1023=)
c.3066G>A (p.Arg1022=)
c.3165G>A (p.Arg1055=)
c.*3093G>A (n.*3093G>A)
c.2106+182734G>A (n.2106+182734G>A)
n.156G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.184327441G>CCA437330715EIF2B5,EIF4G1c.3654G>C (p.Arg1218=)
c.3588G>C (p.Arg1196=)
c.3001G>C (n.3001G>C)
c.3057G>C (p.Arg1019=)
c.3657G>C (p.Arg1219=)
c.3162G>C (p.Arg1054=)
c.3675G>C (p.Arg1225=)
c.3393G>C (p.Arg1131=)
c.3537G>C (p.Arg1179=)
c.3534G>C (p.Arg1178=)
c.3396G>C (p.Arg1132=)
c.3069G>C (p.Arg1023=)
c.3066G>C (p.Arg1022=)
c.3165G>C (p.Arg1055=)
c.*3093G>C (n.*3093G>C)
c.2106+182734G>C (n.2106+182734G>C)
n.156G>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.184327441G=CA1425958475EIF2B5,EIF4G1c.3654G= (p.Arg1218=)
c.3588G= (p.Arg1196=)
c.3001G= (n.3001G=)
c.3057G= (p.Arg1019=)
c.3657G= (p.Arg1219=)
c.3162G= (p.Arg1054=)
c.3675G= (p.Arg1225=)
c.3393G= (p.Arg1131=)
c.3537G= (p.Arg1179=)
c.3534G= (p.Arg1178=)
c.3396G= (p.Arg1132=)
c.3069G= (p.Arg1023=)
c.3066G= (p.Arg1022=)
c.3165G= (p.Arg1055=)
c.*3093G= (n.*3093G=)
c.2106+182734G= (n.2106+182734G=)
n.156G=
3g.184327441G>TCA437330718EIF2B5,EIF4G1c.3654G>T (p.Arg1218=)
c.3588G>T (p.Arg1196=)
c.3001G>T (n.3001G>T)
c.3057G>T (p.Arg1019=)
c.3657G>T (p.Arg1219=)
c.3162G>T (p.Arg1054=)
c.3675G>T (p.Arg1225=)
c.3393G>T (p.Arg1131=)
c.3537G>T (p.Arg1179=)
c.3534G>T (p.Arg1178=)
c.3396G>T (p.Arg1132=)
c.3069G>T (p.Arg1023=)
c.3066G>T (p.Arg1022=)
c.3165G>T (p.Arg1055=)
c.*3093G>T (n.*3093G>T)
c.2106+182734G>T (n.2106+182734G>T)
n.156G>T
 gnomAD v4
3g.184327442G>ACA355415499EIF2B5,EIF4G1c.3655G>A (p.Asp1219Asn)
c.3589G>A (p.Asp1197Asn)
c.3002G>A (n.3002G>A)
c.3058G>A (p.Asp1020Asn)
c.3658G>A (p.Asp1220Asn)
c.3163G>A (p.Asp1055Asn)
c.3676G>A (p.Asp1226Asn)
c.3394G>A (p.Asp1132Asn)
c.3538G>A (p.Asp1180Asn)
c.3535G>A (p.Asp1179Asn)
c.3397G>A (p.Asp1133Asn)
c.3070G>A (p.Asp1024Asn)
c.3067G>A (p.Asp1023Asn)
c.3166G>A (p.Asp1056Asn)
c.*3094G>A (n.*3094G>A)
c.2106+182735G>A (n.2106+182735G>A)
n.157G>A
3g.184327442G>CCA355415494EIF2B5,EIF4G1c.3655G>C (p.Asp1219His)
c.3589G>C (p.Asp1197His)
c.3002G>C (n.3002G>C)
c.3058G>C (p.Asp1020His)
c.3658G>C (p.Asp1220His)
c.3163G>C (p.Asp1055His)
c.3676G>C (p.Asp1226His)
c.3394G>C (p.Asp1132His)
c.3538G>C (p.Asp1180His)
c.3535G>C (p.Asp1179His)
c.3397G>C (p.Asp1133His)
c.3070G>C (p.Asp1024His)
c.3067G>C (p.Asp1023His)
c.3166G>C (p.Asp1056His)
c.*3094G>C (n.*3094G>C)
c.2106+182735G>C (n.2106+182735G>C)
n.157G>C
3g.184327442G>TCA355415497EIF2B5,EIF4G1c.3655G>T (p.Asp1219Tyr)
c.3589G>T (p.Asp1197Tyr)
c.3002G>T (n.3002G>T)
c.3058G>T (p.Asp1020Tyr)
c.3658G>T (p.Asp1220Tyr)
c.3163G>T (p.Asp1055Tyr)
c.3676G>T (p.Asp1226Tyr)
c.3394G>T (p.Asp1132Tyr)
c.3538G>T (p.Asp1180Tyr)
c.3535G>T (p.Asp1179Tyr)
c.3397G>T (p.Asp1133Tyr)
c.3070G>T (p.Asp1024Tyr)
c.3067G>T (p.Asp1023Tyr)
c.3166G>T (p.Asp1056Tyr)
c.*3094G>T (n.*3094G>T)
c.2106+182735G>T (n.2106+182735G>T)
n.157G>T
3g.184327443A>CCA355415502EIF2B5,EIF4G1c.3656A>C (p.Asp1219Ala)
c.3590A>C (p.Asp1197Ala)
c.3003A>C (n.3003A>C)
c.3059A>C (p.Asp1020Ala)
c.3659A>C (p.Asp1220Ala)
c.3164A>C (p.Asp1055Ala)
c.3677A>C (p.Asp1226Ala)
c.3395A>C (p.Asp1132Ala)
c.3539A>C (p.Asp1180Ala)
c.3536A>C (p.Asp1179Ala)
c.3398A>C (p.Asp1133Ala)
c.3071A>C (p.Asp1024Ala)
c.3068A>C (p.Asp1023Ala)
c.3167A>C (p.Asp1056Ala)
c.*3095A>C (n.*3095A>C)
c.2106+182736A>C (n.2106+182736A>C)
n.158A>C
3g.184327443A>GCA355415505EIF2B5,EIF4G1c.3656A>G (p.Asp1219Gly)
c.3590A>G (p.Asp1197Gly)
c.3003A>G (n.3003A>G)
c.3059A>G (p.Asp1020Gly)
c.3659A>G (p.Asp1220Gly)
c.3164A>G (p.Asp1055Gly)
c.3677A>G (p.Asp1226Gly)
c.3395A>G (p.Asp1132Gly)
c.3539A>G (p.Asp1180Gly)
c.3536A>G (p.Asp1179Gly)
c.3398A>G (p.Asp1133Gly)
c.3071A>G (p.Asp1024Gly)
c.3068A>G (p.Asp1023Gly)
c.3167A>G (p.Asp1056Gly)
c.*3095A>G (n.*3095A>G)
c.2106+182736A>G (n.2106+182736A>G)
n.158A>G
3g.184327443A>TCA355415507EIF2B5,EIF4G1c.3656A>T (p.Asp1219Val)
c.3590A>T (p.Asp1197Val)
c.3003A>T (n.3003A>T)
c.3059A>T (p.Asp1020Val)
c.3659A>T (p.Asp1220Val)
c.3164A>T (p.Asp1055Val)
c.3677A>T (p.Asp1226Val)
c.3395A>T (p.Asp1132Val)
c.3539A>T (p.Asp1180Val)
c.3536A>T (p.Asp1179Val)
c.3398A>T (p.Asp1133Val)
c.3071A>T (p.Asp1024Val)
c.3068A>T (p.Asp1023Val)
c.3167A>T (p.Asp1056Val)
c.*3095A>T (n.*3095A>T)
c.2106+182736A>T (n.2106+182736A>T)
n.158A>T
 gnomAD v4
3g.184327444T>ACA355415511EIF2B5,EIF4G1c.3657T>A (p.Asp1219Glu)
c.3591T>A (p.Asp1197Glu)
c.3004T>A (n.3004T>A)
c.3060T>A (p.Asp1020Glu)
c.3660T>A (p.Asp1220Glu)
c.3165T>A (p.Asp1055Glu)
c.3678T>A (p.Asp1226Glu)
c.3396T>A (p.Asp1132Glu)
c.3540T>A (p.Asp1180Glu)
c.3537T>A (p.Asp1179Glu)
c.3399T>A (p.Asp1133Glu)
c.3072T>A (p.Asp1024Glu)
c.3069T>A (p.Asp1023Glu)
c.3168T>A (p.Asp1056Glu)
c.*3096T>A (n.*3096T>A)
c.2106+182737T>A (n.2106+182737T>A)
n.159T>A
3g.184327444T>CCA437330723EIF2B5,EIF4G1c.3657T>C (p.Asp1219=)
c.3591T>C (p.Asp1197=)
c.3004T>C (n.3004T>C)
c.3060T>C (p.Asp1020=)
c.3660T>C (p.Asp1220=)
c.3165T>C (p.Asp1055=)
c.3678T>C (p.Asp1226=)
c.3396T>C (p.Asp1132=)
c.3540T>C (p.Asp1180=)
c.3537T>C (p.Asp1179=)
c.3399T>C (p.Asp1133=)
c.3072T>C (p.Asp1024=)
c.3069T>C (p.Asp1023=)
c.3168T>C (p.Asp1056=)
c.*3096T>C (n.*3096T>C)
c.2106+182737T>C (n.2106+182737T>C)
n.159T>C
3g.184327444T>GCA355415512EIF2B5,EIF4G1c.3657T>G (p.Asp1219Glu)
c.3591T>G (p.Asp1197Glu)
c.3004T>G (n.3004T>G)
c.3060T>G (p.Asp1020Glu)
c.3660T>G (p.Asp1220Glu)
c.3165T>G (p.Asp1055Glu)
c.3678T>G (p.Asp1226Glu)
c.3396T>G (p.Asp1132Glu)
c.3540T>G (p.Asp1180Glu)
c.3537T>G (p.Asp1179Glu)
c.3399T>G (p.Asp1133Glu)
c.3072T>G (p.Asp1024Glu)
c.3069T>G (p.Asp1023Glu)
c.3168T>G (p.Asp1056Glu)
c.*3096T>G (n.*3096T>G)
c.2106+182737T>G (n.2106+182737T>G)
n.159T>G
3g.184327445G>ACA355415516EIF2B5,EIF4G1c.3658G>A (p.Ala1220Thr)
c.3592G>A (p.Ala1198Thr)
c.3005G>A (n.3005G>A)
c.3061G>A (p.Ala1021Thr)
c.3661G>A (p.Ala1221Thr)
c.3166G>A (p.Ala1056Thr)
c.3679G>A (p.Ala1227Thr)
c.3397G>A (p.Ala1133Thr)
c.3541G>A (p.Ala1181Thr)
c.3538G>A (p.Ala1180Thr)
c.3400G>A (p.Ala1134Thr)
c.3073G>A (p.Ala1025Thr)
c.3070G>A (p.Ala1024Thr)
c.3169G>A (p.Ala1057Thr)
c.*3097G>A (n.*3097G>A)
c.2106+182738G>A (n.2106+182738G>A)
n.160G>A
3g.184327445G>CCA355415521EIF2B5,EIF4G1c.3658G>C (p.Ala1220Pro)
c.3592G>C (p.Ala1198Pro)
c.3005G>C (n.3005G>C)
c.3061G>C (p.Ala1021Pro)
c.3661G>C (p.Ala1221Pro)
c.3166G>C (p.Ala1056Pro)
c.3679G>C (p.Ala1227Pro)
c.3397G>C (p.Ala1133Pro)
c.3541G>C (p.Ala1181Pro)
c.3538G>C (p.Ala1180Pro)
c.3400G>C (p.Ala1134Pro)
c.3073G>C (p.Ala1025Pro)
c.3070G>C (p.Ala1024Pro)
c.3169G>C (p.Ala1057Pro)
c.*3097G>C (n.*3097G>C)
c.2106+182738G>C (n.2106+182738G>C)
n.160G>C
3g.184327445G>TCA355415518EIF2B5,EIF4G1c.3658G>T (p.Ala1220Ser)
c.3592G>T (p.Ala1198Ser)
c.3005G>T (n.3005G>T)
c.3061G>T (p.Ala1021Ser)
c.3661G>T (p.Ala1221Ser)
c.3166G>T (p.Ala1056Ser)
c.3679G>T (p.Ala1227Ser)
c.3397G>T (p.Ala1133Ser)
c.3541G>T (p.Ala1181Ser)
c.3538G>T (p.Ala1180Ser)
c.3400G>T (p.Ala1134Ser)
c.3073G>T (p.Ala1025Ser)
c.3070G>T (p.Ala1024Ser)
c.3169G>T (p.Ala1057Ser)
c.*3097G>T (n.*3097G>T)
c.2106+182738G>T (n.2106+182738G>T)
n.160G>T
3g.184327446C>ACA355415523EIF2B5,EIF4G1c.3659C>A (p.Ala1220Asp)
c.3593C>A (p.Ala1198Asp)
c.3006C>A (n.3006C>A)
c.3062C>A (p.Ala1021Asp)
c.3662C>A (p.Ala1221Asp)
c.3167C>A (p.Ala1056Asp)
c.3680C>A (p.Ala1227Asp)
c.3398C>A (p.Ala1133Asp)
c.3542C>A (p.Ala1181Asp)
c.3539C>A (p.Ala1180Asp)
c.3401C>A (p.Ala1134Asp)
c.3074C>A (p.Ala1025Asp)
c.3071C>A (p.Ala1024Asp)
c.3170C>A (p.Ala1057Asp)
c.*3098C>A (n.*3098C>A)
c.2106+182739C>A (n.2106+182739C>A)
n.161C>A
3g.184327446C=CA1425958478EIF2B5,EIF4G1c.3659C= (p.Ala1220=)
c.3593C= (p.Ala1198=)
c.3006C= (n.3006C=)
c.3062C= (p.Ala1021=)
c.3662C= (p.Ala1221=)
c.3167C= (p.Ala1056=)
c.3680C= (p.Ala1227=)
c.3398C= (p.Ala1133=)
c.3542C= (p.Ala1181=)
c.3539C= (p.Ala1180=)
c.3401C= (p.Ala1134=)
c.3074C= (p.Ala1025=)
c.3071C= (p.Ala1024=)
c.3170C= (p.Ala1057=)
c.*3098C= (n.*3098C=)
c.2106+182739C= (n.2106+182739C=)
n.161C=
3g.184327446C>GCA355415525EIF2B5,EIF4G1c.3659C>G (p.Ala1220Gly)
c.3593C>G (p.Ala1198Gly)
c.3006C>G (n.3006C>G)
c.3062C>G (p.Ala1021Gly)
c.3662C>G (p.Ala1221Gly)
c.3167C>G (p.Ala1056Gly)
c.3680C>G (p.Ala1227Gly)
c.3398C>G (p.Ala1133Gly)
c.3542C>G (p.Ala1181Gly)
c.3539C>G (p.Ala1180Gly)
c.3401C>G (p.Ala1134Gly)
c.3074C>G (p.Ala1025Gly)
c.3071C>G (p.Ala1024Gly)
c.3170C>G (p.Ala1057Gly)
c.*3098C>G (n.*3098C>G)
c.2106+182739C>G (n.2106+182739C>G)
n.161C>G
3g.184327446C>TCA2732867EIF2B5,EIF4G1c.3659C>T (p.Ala1220Val)
c.3593C>T (p.Ala1198Val)
c.3006C>T (n.3006C>T)
c.3062C>T (p.Ala1021Val)
c.3662C>T (p.Ala1221Val)
c.3167C>T (p.Ala1056Val)
c.3680C>T (p.Ala1227Val)
c.3398C>T (p.Ala1133Val)
c.3542C>T (p.Ala1181Val)
c.3539C>T (p.Ala1180Val)
c.3401C>T (p.Ala1134Val)
c.3074C>T (p.Ala1025Val)
c.3071C>T (p.Ala1024Val)
c.3170C>T (p.Ala1057Val)
c.*3098C>T (n.*3098C>T)
c.2106+182739C>T (n.2106+182739C>T)
n.161C>T
 dbSNP ExAC gnomAD v3 gnomAD v4
3g.184327447C>ACA437330727EIF2B5,EIF4G1c.3660C>A (p.Ala1220=)
c.3594C>A (p.Ala1198=)
c.3007C>A (n.3007C>A)
c.3063C>A (p.Ala1021=)
c.3663C>A (p.Ala1221=)
c.3168C>A (p.Ala1056=)
c.3681C>A (p.Ala1227=)
c.3399C>A (p.Ala1133=)
c.3543C>A (p.Ala1181=)
c.3540C>A (p.Ala1180=)
c.3402C>A (p.Ala1134=)
c.3075C>A (p.Ala1025=)
c.3072C>A (p.Ala1024=)
c.3171C>A (p.Ala1057=)
c.*3099C>A (n.*3099C>A)
c.2106+182740C>A (n.2106+182740C>A)
n.162C>A
3g.184327447C=CA1425958481EIF2B5,EIF4G1c.3660C= (p.Ala1220=)
c.3594C= (p.Ala1198=)
c.3007C= (n.3007C=)
c.3063C= (p.Ala1021=)
c.3663C= (p.Ala1221=)
c.3168C= (p.Ala1056=)
c.3681C= (p.Ala1227=)
c.3399C= (p.Ala1133=)
c.3543C= (p.Ala1181=)
c.3540C= (p.Ala1180=)
c.3402C= (p.Ala1134=)
c.3075C= (p.Ala1025=)
c.3072C= (p.Ala1024=)
c.3171C= (p.Ala1057=)
c.*3099C= (n.*3099C=)
c.2106+182740C= (n.2106+182740C=)
n.162C=
3g.184327447C>GCA437330728EIF2B5,EIF4G1c.3660C>G (p.Ala1220=)
c.3594C>G (p.Ala1198=)
c.3007C>G (n.3007C>G)
c.3063C>G (p.Ala1021=)
c.3663C>G (p.Ala1221=)
c.3168C>G (p.Ala1056=)
c.3681C>G (p.Ala1227=)
c.3399C>G (p.Ala1133=)
c.3543C>G (p.Ala1181=)
c.3540C>G (p.Ala1180=)
c.3402C>G (p.Ala1134=)
c.3075C>G (p.Ala1025=)
c.3072C>G (p.Ala1024=)
c.3171C>G (p.Ala1057=)
c.*3099C>G (n.*3099C>G)
c.2106+182740C>G (n.2106+182740C>G)
n.162C>G
3g.184327447C>TCA2732868EIF2B5,EIF4G1c.3660C>T (p.Ala1220=)
c.3594C>T (p.Ala1198=)
c.3007C>T (n.3007C>T)
c.3063C>T (p.Ala1021=)
c.3663C>T (p.Ala1221=)
c.3168C>T (p.Ala1056=)
c.3681C>T (p.Ala1227=)
c.3399C>T (p.Ala1133=)
c.3543C>T (p.Ala1181=)
c.3540C>T (p.Ala1180=)
c.3402C>T (p.Ala1134=)
c.3075C>T (p.Ala1025=)
c.3072C>T (p.Ala1024=)
c.3171C>T (p.Ala1057=)
c.*3099C>T (n.*3099C>T)
c.2106+182740C>T (n.2106+182740C>T)
n.162C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.184327448G>ACA2732869EIF2B5,EIF4G1c.3661G>A (p.Val1221Met)
c.3595G>A (p.Val1199Met)
c.3008G>A (n.3008G>A)
c.3064G>A (p.Val1022Met)
c.3664G>A (p.Val1222Met)
c.3169G>A (p.Val1057Met)
c.3682G>A (p.Val1228Met)
c.3400G>A (p.Val1134Met)
c.3544G>A (p.Val1182Met)
c.3541G>A (p.Val1181Met)
c.3403G>A (p.Val1135Met)
c.3076G>A (p.Val1026Met)
c.3073G>A (p.Val1025Met)
c.3172G>A (p.Val1058Met)
c.*3100G>A (n.*3100G>A)
c.2106+182741G>A (n.2106+182741G>A)
n.163G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.184327448G>CCA355415534EIF2B5,EIF4G1c.3661G>C (p.Val1221Leu)
c.3595G>C (p.Val1199Leu)
c.3008G>C (n.3008G>C)
c.3064G>C (p.Val1022Leu)
c.3664G>C (p.Val1222Leu)
c.3169G>C (p.Val1057Leu)
c.3682G>C (p.Val1228Leu)
c.3400G>C (p.Val1134Leu)
c.3544G>C (p.Val1182Leu)
c.3541G>C (p.Val1181Leu)
c.3403G>C (p.Val1135Leu)
c.3076G>C (p.Val1026Leu)
c.3073G>C (p.Val1025Leu)
c.3172G>C (p.Val1058Leu)
c.*3100G>C (n.*3100G>C)
c.2106+182741G>C (n.2106+182741G>C)
n.163G>C
3g.184327448G=CA1425958483EIF2B5,EIF4G1c.3661G= (p.Val1221=)
c.3595G= (p.Val1199=)
c.3008G= (n.3008G=)
c.3064G= (p.Val1022=)
c.3664G= (p.Val1222=)
c.3169G= (p.Val1057=)
c.3682G= (p.Val1228=)
c.3400G= (p.Val1134=)
c.3544G= (p.Val1182=)
c.3541G= (p.Val1181=)
c.3403G= (p.Val1135=)
c.3076G= (p.Val1026=)
c.3073G= (p.Val1025=)
c.3172G= (p.Val1058=)
c.*3100G= (n.*3100G=)
c.2106+182741G= (n.2106+182741G=)
n.163G=
3g.184327448G>TCA355415537EIF2B5,EIF4G1c.3661G>T (p.Val1221Leu)
c.3595G>T (p.Val1199Leu)
c.3008G>T (n.3008G>T)
c.3064G>T (p.Val1022Leu)
c.3664G>T (p.Val1222Leu)
c.3169G>T (p.Val1057Leu)
c.3682G>T (p.Val1228Leu)
c.3400G>T (p.Val1134Leu)
c.3544G>T (p.Val1182Leu)
c.3541G>T (p.Val1181Leu)
c.3403G>T (p.Val1135Leu)
c.3076G>T (p.Val1026Leu)
c.3073G>T (p.Val1025Leu)
c.3172G>T (p.Val1058Leu)
c.*3100G>T (n.*3100G>T)
c.2106+182741G>T (n.2106+182741G>T)
n.163G>T
3g.184327449G>ACA355415542EIF2B5,EIF4G1c.3661+1G>A (n.3661+1G>A)
c.3595+1G>A (n.3595+1G>A)
c.3008+1G>A (n.3008+1G>A)
c.3064+1G>A (n.3064+1G>A)
c.3664+1G>A (n.3664+1G>A)
c.3169+1G>A (n.3169+1G>A)
c.3682+1G>A (n.3682+1G>A)
c.3400+1G>A (n.3400+1G>A)
c.3544+1G>A (n.3544+1G>A)
c.3541+1G>A (n.3541+1G>A)
c.3403+1G>A (n.3403+1G>A)
c.3076+1G>A (n.3076+1G>A)
c.3073+1G>A (n.3073+1G>A)
c.3172+1G>A (n.3172+1G>A)
c.*3100+1G>A (n.*3100+1G>A)
c.2106+182742G>A (n.2106+182742G>A)
n.163+1G>A
3g.184327449G>CCA88867730EIF2B5,EIF4G1c.3661+1G>C (n.3661+1G>C)
c.3595+1G>C (n.3595+1G>C)
c.3008+1G>C (n.3008+1G>C)
c.3064+1G>C (n.3064+1G>C)
c.3664+1G>C (n.3664+1G>C)
c.3169+1G>C (n.3169+1G>C)
c.3682+1G>C (n.3682+1G>C)
c.3400+1G>C (n.3400+1G>C)
c.3544+1G>C (n.3544+1G>C)
c.3541+1G>C (n.3541+1G>C)
c.3403+1G>C (n.3403+1G>C)
c.3076+1G>C (n.3076+1G>C)
c.3073+1G>C (n.3073+1G>C)
c.3172+1G>C (n.3172+1G>C)
c.*3100+1G>C (n.*3100+1G>C)
c.2106+182742G>C (n.2106+182742G>C)
n.163+1G>C
 dbSNP
3g.184327449G=CA1425958486EIF2B5,EIF4G1c.3661+1G= (n.3661+1G=)
c.3595+1G= (n.3595+1G=)
c.3008+1G= (n.3008+1G=)
c.3064+1G= (n.3064+1G=)
c.3664+1G= (n.3664+1G=)
c.3169+1G= (n.3169+1G=)
c.3682+1G= (n.3682+1G=)
c.3400+1G= (n.3400+1G=)
c.3544+1G= (n.3544+1G=)
c.3541+1G= (n.3541+1G=)
c.3403+1G= (n.3403+1G=)
c.3076+1G= (n.3076+1G=)
c.3073+1G= (n.3073+1G=)
c.3172+1G= (n.3172+1G=)
c.*3100+1G= (n.*3100+1G=)
c.2106+182742G= (n.2106+182742G=)
n.163+1G=
3g.184327449G>TCA88867752EIF2B5,EIF4G1c.3661+1G>T (n.3661+1G>T)
c.3595+1G>T (n.3595+1G>T)
c.3008+1G>T (n.3008+1G>T)
c.3064+1G>T (n.3064+1G>T)
c.3664+1G>T (n.3664+1G>T)
c.3169+1G>T (n.3169+1G>T)
c.3682+1G>T (n.3682+1G>T)
c.3400+1G>T (n.3400+1G>T)
c.3544+1G>T (n.3544+1G>T)
c.3541+1G>T (n.3541+1G>T)
c.3403+1G>T (n.3403+1G>T)
c.3076+1G>T (n.3076+1G>T)
c.3073+1G>T (n.3073+1G>T)
c.3172+1G>T (n.3172+1G>T)
c.*3100+1G>T (n.*3100+1G>T)
c.2106+182742G>T (n.2106+182742G>T)
n.163+1G>T
 dbSNP
3g.184327450T>ACA355415553EIF2B5,EIF4G1c.3661+2T>A (n.3661+2T>A)
c.3595+2T>A (n.3595+2T>A)
c.3008+2T>A (n.3008+2T>A)
c.3064+2T>A (n.3064+2T>A)
c.3664+2T>A (n.3664+2T>A)
c.3169+2T>A (n.3169+2T>A)
c.3682+2T>A (n.3682+2T>A)
c.3400+2T>A (n.3400+2T>A)
c.3544+2T>A (n.3544+2T>A)
c.3541+2T>A (n.3541+2T>A)
c.3403+2T>A (n.3403+2T>A)
c.3076+2T>A (n.3076+2T>A)
c.3073+2T>A (n.3073+2T>A)
c.3172+2T>A (n.3172+2T>A)
c.*3100+2T>A (n.*3100+2T>A)
c.2106+182743T>A (n.2106+182743T>A)
n.163+2T>A
3g.184327450T>CCA355415551EIF2B5,EIF4G1c.3661+2T>C (n.3661+2T>C)
c.3595+2T>C (n.3595+2T>C)
c.3008+2T>C (n.3008+2T>C)
c.3064+2T>C (n.3064+2T>C)
c.3664+2T>C (n.3664+2T>C)
c.3169+2T>C (n.3169+2T>C)
c.3682+2T>C (n.3682+2T>C)
c.3400+2T>C (n.3400+2T>C)
c.3544+2T>C (n.3544+2T>C)
c.3541+2T>C (n.3541+2T>C)
c.3403+2T>C (n.3403+2T>C)
c.3076+2T>C (n.3076+2T>C)
c.3073+2T>C (n.3073+2T>C)
c.3172+2T>C (n.3172+2T>C)
c.*3100+2T>C (n.*3100+2T>C)
c.2106+182743T>C (n.2106+182743T>C)
n.163+2T>C
3g.184327450T>GCA355415550EIF2B5,EIF4G1c.3661+2T>G (n.3661+2T>G)
c.3595+2T>G (n.3595+2T>G)
c.3008+2T>G (n.3008+2T>G)
c.3064+2T>G (n.3064+2T>G)
c.3664+2T>G (n.3664+2T>G)
c.3169+2T>G (n.3169+2T>G)
c.3682+2T>G (n.3682+2T>G)
c.3400+2T>G (n.3400+2T>G)
c.3544+2T>G (n.3544+2T>G)
c.3541+2T>G (n.3541+2T>G)
c.3403+2T>G (n.3403+2T>G)
c.3076+2T>G (n.3076+2T>G)
c.3073+2T>G (n.3073+2T>G)
c.3172+2T>G (n.3172+2T>G)
c.*3100+2T>G (n.*3100+2T>G)
c.2106+182743T>G (n.2106+182743T>G)
n.163+2T>G
3g.184327451G>ACA645527395EIF2B5,EIF4G1c.3661+3G>A (n.3661+3G>A)
c.3595+3G>A (n.3595+3G>A)
c.3008+3G>A (n.3008+3G>A)
c.3064+3G>A (n.3064+3G>A)
c.3664+3G>A (n.3664+3G>A)
c.3169+3G>A (n.3169+3G>A)
c.3682+3G>A (n.3682+3G>A)
c.3400+3G>A (n.3400+3G>A)
c.3544+3G>A (n.3544+3G>A)
c.3541+3G>A (n.3541+3G>A)
c.3403+3G>A (n.3403+3G>A)
c.3076+3G>A (n.3076+3G>A)
c.3073+3G>A (n.3073+3G>A)
c.3172+3G>A (n.3172+3G>A)
c.*3100+3G>A (n.*3100+3G>A)
c.2106+182744G>A (n.2106+182744G>A)
n.163+3G>A
 COSMIC
3g.184327451G>TCA2668840843EIF2B5,EIF4G1c.3661+3G>T (n.3661+3G>T)
c.3595+3G>T (n.3595+3G>T)
c.3008+3G>T (n.3008+3G>T)
c.3064+3G>T (n.3064+3G>T)
c.3664+3G>T (n.3664+3G>T)
c.3169+3G>T (n.3169+3G>T)
c.3682+3G>T (n.3682+3G>T)
c.3400+3G>T (n.3400+3G>T)
c.3544+3G>T (n.3544+3G>T)
c.3541+3G>T (n.3541+3G>T)
c.3403+3G>T (n.3403+3G>T)
c.3076+3G>T (n.3076+3G>T)
c.3073+3G>T (n.3073+3G>T)
c.3172+3G>T (n.3172+3G>T)
c.*3100+3G>T (n.*3100+3G>T)
c.2106+182744G>T (n.2106+182744G>T)
n.163+3G>T
 gnomAD v4
3g.184327453G>ACA548795616EIF2B5,EIF4G1c.3661+5G>A (n.3661+5G>A)
c.3595+5G>A (n.3595+5G>A)
c.3008+5G>A (n.3008+5G>A)
c.3064+5G>A (n.3064+5G>A)
c.3664+5G>A (n.3664+5G>A)
c.3169+5G>A (n.3169+5G>A)
c.3682+5G>A (n.3682+5G>A)
c.3400+5G>A (n.3400+5G>A)
c.3544+5G>A (n.3544+5G>A)
c.3541+5G>A (n.3541+5G>A)
c.3403+5G>A (n.3403+5G>A)
c.3076+5G>A (n.3076+5G>A)
c.3073+5G>A (n.3073+5G>A)
c.3172+5G>A (n.3172+5G>A)
c.*3100+5G>A (n.*3100+5G>A)
c.2106+182746G>A (n.2106+182746G>A)
n.163+5G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.184327453G=CA1425958488EIF2B5,EIF4G1c.3661+5G= (n.3661+5G=)
c.3595+5G= (n.3595+5G=)
c.3008+5G= (n.3008+5G=)
c.3064+5G= (n.3064+5G=)
c.3664+5G= (n.3664+5G=)
c.3169+5G= (n.3169+5G=)
c.3682+5G= (n.3682+5G=)
c.3400+5G= (n.3400+5G=)
c.3544+5G= (n.3544+5G=)
c.3541+5G= (n.3541+5G=)
c.3403+5G= (n.3403+5G=)
c.3076+5G= (n.3076+5G=)
c.3073+5G= (n.3073+5G=)
c.3172+5G= (n.3172+5G=)
c.*3100+5G= (n.*3100+5G=)
c.2106+182746G= (n.2106+182746G=)
n.163+5G=
3g.184327456T>CCA1425958491EIF2B5,EIF4G1c.3661+8T>C (n.3661+8T>C)
c.3595+8T>C (n.3595+8T>C)
c.3008+8T>C (n.3008+8T>C)
c.3064+8T>C (n.3064+8T>C)
c.3664+8T>C (n.3664+8T>C)
c.3169+8T>C (n.3169+8T>C)
c.3682+8T>C (n.3682+8T>C)
c.3400+8T>C (n.3400+8T>C)
c.3544+8T>C (n.3544+8T>C)
c.3541+8T>C (n.3541+8T>C)
c.3403+8T>C (n.3403+8T>C)
c.3076+8T>C (n.3076+8T>C)
c.3073+8T>C (n.3073+8T>C)
c.3172+8T>C (n.3172+8T>C)
c.*3100+8T>C (n.*3100+8T>C)
c.2106+182749T>C (n.2106+182749T>C)
n.163+8T>C
 dbSNP
3g.184327456T>GCA1425958490EIF2B5,EIF4G1c.3661+8T>G (n.3661+8T>G)
c.3595+8T>G (n.3595+8T>G)
c.3008+8T>G (n.3008+8T>G)
c.3064+8T>G (n.3064+8T>G)
c.3664+8T>G (n.3664+8T>G)
c.3169+8T>G (n.3169+8T>G)
c.3682+8T>G (n.3682+8T>G)
c.3400+8T>G (n.3400+8T>G)
c.3544+8T>G (n.3544+8T>G)
c.3541+8T>G (n.3541+8T>G)
c.3403+8T>G (n.3403+8T>G)
c.3076+8T>G (n.3076+8T>G)
c.3073+8T>G (n.3073+8T>G)
c.3172+8T>G (n.3172+8T>G)
c.*3100+8T>G (n.*3100+8T>G)
c.2106+182749T>G (n.2106+182749T>G)
n.163+8T>G
 dbSNP
3g.184327456T=CA1425958492EIF2B5,EIF4G1c.3661+8T= (n.3661+8T=)
c.3595+8T= (n.3595+8T=)
c.3008+8T= (n.3008+8T=)
c.3064+8T= (n.3064+8T=)
c.3664+8T= (n.3664+8T=)
c.3169+8T= (n.3169+8T=)
c.3682+8T= (n.3682+8T=)
c.3400+8T= (n.3400+8T=)
c.3544+8T= (n.3544+8T=)
c.3541+8T= (n.3541+8T=)
c.3403+8T= (n.3403+8T=)
c.3076+8T= (n.3076+8T=)
c.3073+8T= (n.3073+8T=)
c.3172+8T= (n.3172+8T=)
c.*3100+8T= (n.*3100+8T=)
c.2106+182749T= (n.2106+182749T=)
n.163+8T=
3g.184327459G=CA1425958494EIF2B5,EIF4G1c.3661+11G= (n.3661+11G=)
c.3595+11G= (n.3595+11G=)
c.3008+11G= (n.3008+11G=)
c.3064+11G= (n.3064+11G=)
c.3664+11G= (n.3664+11G=)
c.3169+11G= (n.3169+11G=)
c.3682+11G= (n.3682+11G=)
c.3400+11G= (n.3400+11G=)
c.3544+11G= (n.3544+11G=)
c.3541+11G= (n.3541+11G=)
c.3403+11G= (n.3403+11G=)
c.3076+11G= (n.3076+11G=)
c.3073+11G= (n.3073+11G=)
c.3172+11G= (n.3172+11G=)
c.*3100+11G= (n.*3100+11G=)
c.2106+182752G= (n.2106+182752G=)
n.163+11G=
3g.184327463_184327467dupCA548795617EIF2B5,EIF4G1c.3661+15_3661+19dup (n.3661+15_3661+19dup)
c.3595+15_3595+19dup (n.3595+15_3595+19dup)
c.3008+15_3008+19dup (n.3008+15_3008+19dup)
c.3064+15_3064+19dup (n.3064+15_3064+19dup)
c.3664+15_3664+19dup (n.3664+15_3664+19dup)
c.3169+15_3169+19dup (n.3169+15_3169+19dup)
c.3682+15_3682+19dup (n.3682+15_3682+19dup)
c.3400+15_3400+19dup (n.3400+15_3400+19dup)
c.3544+15_3544+19dup (n.3544+15_3544+19dup)
c.3541+15_3541+19dup (n.3541+15_3541+19dup)
c.3403+15_3403+19dup (n.3403+15_3403+19dup)
c.3076+15_3076+19dup (n.3076+15_3076+19dup)
c.3073+15_3073+19dup (n.3073+15_3073+19dup)
c.3172+15_3172+19dup (n.3172+15_3172+19dup)
c.*3100+15_*3100+19dup (n.*3100+15_*3100+19dup)
c.2106+182756_2106+182760dup (n.2106+182756_2106+182760dup)
n.163+15_163+19dup
 dbSNP gnomAD v2 gnomAD v4
3g.184327461G>ACA2732870EIF2B5,EIF4G1c.3661+13G>A (n.3661+13G>A)
c.3595+13G>A (n.3595+13G>A)
c.3008+13G>A (n.3008+13G>A)
c.3064+13G>A (n.3064+13G>A)
c.3664+13G>A (n.3664+13G>A)
c.3169+13G>A (n.3169+13G>A)
c.3682+13G>A (n.3682+13G>A)
c.3400+13G>A (n.3400+13G>A)
c.3544+13G>A (n.3544+13G>A)
c.3541+13G>A (n.3541+13G>A)
c.3403+13G>A (n.3403+13G>A)
c.3076+13G>A (n.3076+13G>A)
c.3073+13G>A (n.3073+13G>A)
c.3172+13G>A (n.3172+13G>A)
c.*3100+13G>A (n.*3100+13G>A)
c.2106+182754G>A (n.2106+182754G>A)
n.163+13G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.184327461G=CA1425958496EIF2B5,EIF4G1c.3661+13G= (n.3661+13G=)
c.3595+13G= (n.3595+13G=)
c.3008+13G= (n.3008+13G=)
c.3064+13G= (n.3064+13G=)
c.3664+13G= (n.3664+13G=)
c.3169+13G= (n.3169+13G=)
c.3682+13G= (n.3682+13G=)
c.3400+13G= (n.3400+13G=)
c.3544+13G= (n.3544+13G=)
c.3541+13G= (n.3541+13G=)
c.3403+13G= (n.3403+13G=)
c.3076+13G= (n.3076+13G=)
c.3073+13G= (n.3073+13G=)
c.3172+13G= (n.3172+13G=)
c.*3100+13G= (n.*3100+13G=)
c.2106+182754G= (n.2106+182754G=)
n.163+13G=
3g.184327461G>TCA2577978170EIF2B5,EIF4G1c.3661+13G>T (n.3661+13G>T)
c.3595+13G>T (n.3595+13G>T)
c.3008+13G>T (n.3008+13G>T)
c.3064+13G>T (n.3064+13G>T)
c.3664+13G>T (n.3664+13G>T)
c.3169+13G>T (n.3169+13G>T)
c.3682+13G>T (n.3682+13G>T)
c.3400+13G>T (n.3400+13G>T)
c.3544+13G>T (n.3544+13G>T)
c.3541+13G>T (n.3541+13G>T)
c.3403+13G>T (n.3403+13G>T)
c.3076+13G>T (n.3076+13G>T)
c.3073+13G>T (n.3073+13G>T)
c.3172+13G>T (n.3172+13G>T)
c.*3100+13G>T (n.*3100+13G>T)
c.2106+182754G>T (n.2106+182754G>T)
n.163+13G>T
3g.184327462A=CA1425958498EIF2B5,EIF4G1c.3661+14A= (n.3661+14A=)
c.3595+14A= (n.3595+14A=)
c.3008+14A= (n.3008+14A=)
c.3064+14A= (n.3064+14A=)
c.3664+14A= (n.3664+14A=)
c.3169+14A= (n.3169+14A=)
c.3682+14A= (n.3682+14A=)
c.3400+14A= (n.3400+14A=)
c.3544+14A= (n.3544+14A=)
c.3541+14A= (n.3541+14A=)
c.3403+14A= (n.3403+14A=)
c.3076+14A= (n.3076+14A=)
c.3073+14A= (n.3073+14A=)
c.3172+14A= (n.3172+14A=)
c.*3100+14A= (n.*3100+14A=)
c.2106+182755A= (n.2106+182755A=)
n.163+14A=
3g.184327462A>CCA2668840851EIF2B5,EIF4G1c.3661+14A>C (n.3661+14A>C)
c.3595+14A>C (n.3595+14A>C)
c.3008+14A>C (n.3008+14A>C)
c.3064+14A>C (n.3064+14A>C)
c.3664+14A>C (n.3664+14A>C)
c.3169+14A>C (n.3169+14A>C)
c.3682+14A>C (n.3682+14A>C)
c.3400+14A>C (n.3400+14A>C)
c.3544+14A>C (n.3544+14A>C)
c.3541+14A>C (n.3541+14A>C)
c.3403+14A>C (n.3403+14A>C)
c.3076+14A>C (n.3076+14A>C)
c.3073+14A>C (n.3073+14A>C)
c.3172+14A>C (n.3172+14A>C)
c.*3100+14A>C (n.*3100+14A>C)
c.2106+182755A>C (n.2106+182755A>C)
n.163+14A>C
 gnomAD v4
3g.184327462A>GCA1425958499EIF2B5,EIF4G1c.3661+14A>G (n.3661+14A>G)
c.3595+14A>G (n.3595+14A>G)
c.3008+14A>G (n.3008+14A>G)
c.3064+14A>G (n.3064+14A>G)
c.3664+14A>G (n.3664+14A>G)
c.3169+14A>G (n.3169+14A>G)
c.3682+14A>G (n.3682+14A>G)
c.3400+14A>G (n.3400+14A>G)
c.3544+14A>G (n.3544+14A>G)
c.3541+14A>G (n.3541+14A>G)
c.3403+14A>G (n.3403+14A>G)
c.3076+14A>G (n.3076+14A>G)
c.3073+14A>G (n.3073+14A>G)
c.3172+14A>G (n.3172+14A>G)
c.*3100+14A>G (n.*3100+14A>G)
c.2106+182755A>G (n.2106+182755A>G)
n.163+14A>G
 dbSNP
3g.184327465G>ACA2668840854EIF2B5,EIF4G1c.3661+17G>A (n.3661+17G>A)
c.3595+17G>A (n.3595+17G>A)
c.3008+17G>A (n.3008+17G>A)
c.3064+17G>A (n.3064+17G>A)
c.3664+17G>A (n.3664+17G>A)
c.3169+17G>A (n.3169+17G>A)
c.3682+17G>A (n.3682+17G>A)
c.3400+17G>A (n.3400+17G>A)
c.3544+17G>A (n.3544+17G>A)
c.3541+17G>A (n.3541+17G>A)
c.3403+17G>A (n.3403+17G>A)
c.3076+17G>A (n.3076+17G>A)
c.3073+17G>A (n.3073+17G>A)
c.3172+17G>A (n.3172+17G>A)
c.*3100+17G>A (n.*3100+17G>A)
c.2106+182758G>A (n.2106+182758G>A)
n.163+17G>A
 gnomAD v4
3g.184327466G>ACA1425958502EIF2B5,EIF4G1c.3661+18G>A (n.3661+18G>A)
c.3595+18G>A (n.3595+18G>A)
c.3008+18G>A (n.3008+18G>A)
c.3064+18G>A (n.3064+18G>A)
c.3664+18G>A (n.3664+18G>A)
c.3169+18G>A (n.3169+18G>A)
c.3682+18G>A (n.3682+18G>A)
c.3400+18G>A (n.3400+18G>A)
c.3544+18G>A (n.3544+18G>A)
c.3541+18G>A (n.3541+18G>A)
c.3403+18G>A (n.3403+18G>A)
c.3076+18G>A (n.3076+18G>A)
c.3073+18G>A (n.3073+18G>A)
c.3172+18G>A (n.3172+18G>A)
c.*3100+18G>A (n.*3100+18G>A)
c.2106+182759G>A (n.2106+182759G>A)
n.163+18G>A
 dbSNP
3g.184327466G=CA1425958500EIF2B5,EIF4G1c.3661+18G= (n.3661+18G=)
c.3595+18G= (n.3595+18G=)
c.3008+18G= (n.3008+18G=)
c.3064+18G= (n.3064+18G=)
c.3664+18G= (n.3664+18G=)
c.3169+18G= (n.3169+18G=)
c.3682+18G= (n.3682+18G=)
c.3400+18G= (n.3400+18G=)
c.3544+18G= (n.3544+18G=)
c.3541+18G= (n.3541+18G=)
c.3403+18G= (n.3403+18G=)
c.3076+18G= (n.3076+18G=)
c.3073+18G= (n.3073+18G=)
c.3172+18G= (n.3172+18G=)
c.*3100+18G= (n.*3100+18G=)
c.2106+182759G= (n.2106+182759G=)
n.163+18G=
3g.184327468A=CA1425958503EIF2B5,EIF4G1c.3661+20A= (n.3661+20A=)
c.3595+20A= (n.3595+20A=)
c.3008+20A= (n.3008+20A=)
c.3064+20A= (n.3064+20A=)
c.3664+20A= (n.3664+20A=)
c.3169+20A= (n.3169+20A=)
c.3682+20A= (n.3682+20A=)
c.3400+20A= (n.3400+20A=)
c.3544+20A= (n.3544+20A=)
c.3541+20A= (n.3541+20A=)
c.3403+20A= (n.3403+20A=)
c.3076+20A= (n.3076+20A=)
c.3073+20A= (n.3073+20A=)
c.3172+20A= (n.3172+20A=)
c.*3100+20A= (n.*3100+20A=)
c.2106+182761A= (n.2106+182761A=)
n.163+20A=
3g.184327468A>GCA548795618EIF2B5,EIF4G1c.3661+20A>G (n.3661+20A>G)
c.3595+20A>G (n.3595+20A>G)
c.3008+20A>G (n.3008+20A>G)
c.3064+20A>G (n.3064+20A>G)
c.3664+20A>G (n.3664+20A>G)
c.3169+20A>G (n.3169+20A>G)
c.3682+20A>G (n.3682+20A>G)
c.3400+20A>G (n.3400+20A>G)
c.3544+20A>G (n.3544+20A>G)
c.3541+20A>G (n.3541+20A>G)
c.3403+20A>G (n.3403+20A>G)
c.3076+20A>G (n.3076+20A>G)
c.3073+20A>G (n.3073+20A>G)
c.3172+20A>G (n.3172+20A>G)
c.*3100+20A>G (n.*3100+20A>G)
c.2106+182761A>G (n.2106+182761A>G)
n.163+20A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.184327469T>CCA2732871EIF2B5,EIF4G1c.3661+21T>C (n.3661+21T>C)
c.3595+21T>C (n.3595+21T>C)
c.3008+21T>C (n.3008+21T>C)
c.3064+21T>C (n.3064+21T>C)
c.3664+21T>C (n.3664+21T>C)
c.3169+21T>C (n.3169+21T>C)
c.3682+21T>C (n.3682+21T>C)
c.3400+21T>C (n.3400+21T>C)
c.3544+21T>C (n.3544+21T>C)
c.3541+21T>C (n.3541+21T>C)
c.3403+21T>C (n.3403+21T>C)
c.3076+21T>C (n.3076+21T>C)
c.3073+21T>C (n.3073+21T>C)
c.3172+21T>C (n.3172+21T>C)
c.*3100+21T>C (n.*3100+21T>C)
c.2106+182762T>C (n.2106+182762T>C)
n.163+21T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.184327469T=CA1425958505EIF2B5,EIF4G1c.3661+21T= (n.3661+21T=)
c.3595+21T= (n.3595+21T=)
c.3008+21T= (n.3008+21T=)
c.3064+21T= (n.3064+21T=)
c.3664+21T= (n.3664+21T=)
c.3169+21T= (n.3169+21T=)
c.3682+21T= (n.3682+21T=)
c.3400+21T= (n.3400+21T=)
c.3544+21T= (n.3544+21T=)
c.3541+21T= (n.3541+21T=)
c.3403+21T= (n.3403+21T=)
c.3076+21T= (n.3076+21T=)
c.3073+21T= (n.3073+21T=)
c.3172+21T= (n.3172+21T=)
c.*3100+21T= (n.*3100+21T=)
c.2106+182762T= (n.2106+182762T=)
n.163+21T=
3g.184327469_184327470delinsTGCA1425958506EIF2B5,EIF4G1c.3661+21_3661+22delinsTG (n.3661+21_3661+22delinsTG)
c.3595+21_3595+22delinsTG (n.3595+21_3595+22delinsTG)
c.3008+21_3008+22delinsTG (n.3008+21_3008+22delinsTG)
c.3064+21_3064+22delinsTG (n.3064+21_3064+22delinsTG)
c.3664+21_3664+22delinsTG (n.3664+21_3664+22delinsTG)
c.3169+21_3169+22delinsTG (n.3169+21_3169+22delinsTG)
c.3682+21_3682+22delinsTG (n.3682+21_3682+22delinsTG)
c.3400+21_3400+22delinsTG (n.3400+21_3400+22delinsTG)
c.3544+21_3544+22delinsTG (n.3544+21_3544+22delinsTG)
c.3541+21_3541+22delinsTG (n.3541+21_3541+22delinsTG)
c.3403+21_3403+22delinsTG (n.3403+21_3403+22delinsTG)
c.3076+21_3076+22delinsTG (n.3076+21_3076+22delinsTG)
c.3073+21_3073+22delinsTG (n.3073+21_3073+22delinsTG)
c.3172+21_3172+22delinsTG (n.3172+21_3172+22delinsTG)
c.*3100+21_*3100+22delinsTG (n.*3100+21_*3100+22delinsTG)
c.2106+182762_2106+182763delinsTG (n.2106+182762_2106+182763delinsTG)
n.163+21_163+22delinsTG
3g.184327470G>ACA2668840866EIF2B5,EIF4G1c.3661+22G>A (n.3661+22G>A)
c.3595+22G>A (n.3595+22G>A)
c.3008+22G>A (n.3008+22G>A)
c.3064+22G>A (n.3064+22G>A)
c.3664+22G>A (n.3664+22G>A)
c.3169+22G>A (n.3169+22G>A)
c.3682+22G>A (n.3682+22G>A)
c.3400+22G>A (n.3400+22G>A)
c.3544+22G>A (n.3544+22G>A)
c.3541+22G>A (n.3541+22G>A)
c.3403+22G>A (n.3403+22G>A)
c.3076+22G>A (n.3076+22G>A)
c.3073+22G>A (n.3073+22G>A)
c.3172+22G>A (n.3172+22G>A)
c.*3100+22G>A (n.*3100+22G>A)
c.2106+182763G>A (n.2106+182763G>A)
n.163+22G>A
 gnomAD v4
3g.184327470G>CCA2577978171EIF2B5,EIF4G1c.3661+22G>C (n.3661+22G>C)
c.3595+22G>C (n.3595+22G>C)
c.3008+22G>C (n.3008+22G>C)
c.3064+22G>C (n.3064+22G>C)
c.3664+22G>C (n.3664+22G>C)
c.3169+22G>C (n.3169+22G>C)
c.3682+22G>C (n.3682+22G>C)
c.3400+22G>C (n.3400+22G>C)
c.3544+22G>C (n.3544+22G>C)
c.3541+22G>C (n.3541+22G>C)
c.3403+22G>C (n.3403+22G>C)
c.3076+22G>C (n.3076+22G>C)
c.3073+22G>C (n.3073+22G>C)
c.3172+22G>C (n.3172+22G>C)
c.*3100+22G>C (n.*3100+22G>C)
c.2106+182763G>C (n.2106+182763G>C)
n.163+22G>C
3g.184327471delCA1057223832EIF2B5,EIF4G1c.3661+23del (n.3661+23del)
c.3595+23del (n.3595+23del)
c.3008+23del (n.3008+23del)
c.3064+23del (n.3064+23del)
c.3664+23del (n.3664+23del)
c.3169+23del (n.3169+23del)
c.3682+23del (n.3682+23del)
c.3400+23del (n.3400+23del)
c.3544+23del (n.3544+23del)
c.3541+23del (n.3541+23del)
c.3403+23del (n.3403+23del)
c.3076+23del (n.3076+23del)
c.3073+23del (n.3073+23del)
c.3172+23del (n.3172+23del)
c.*3100+23del (n.*3100+23del)
c.2106+182764del (n.2106+182764del)
n.163+23del
 dbSNP gnomAD v3 gnomAD v4
3g.184327471G>ACA2732872EIF2B5,EIF4G1c.3661+23G>A (n.3661+23G>A)
c.3595+23G>A (n.3595+23G>A)
c.3008+23G>A (n.3008+23G>A)
c.3064+23G>A (n.3064+23G>A)
c.3664+23G>A (n.3664+23G>A)
c.3169+23G>A (n.3169+23G>A)
c.3682+23G>A (n.3682+23G>A)
c.3400+23G>A (n.3400+23G>A)
c.3544+23G>A (n.3544+23G>A)
c.3541+23G>A (n.3541+23G>A)
c.3403+23G>A (n.3403+23G>A)
c.3076+23G>A (n.3076+23G>A)
c.3073+23G>A (n.3073+23G>A)
c.3172+23G>A (n.3172+23G>A)
c.*3100+23G>A (n.*3100+23G>A)
c.2106+182764G>A (n.2106+182764G>A)
n.163+23G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.184327471G=CA1425958509EIF2B5,EIF4G1c.3661+23G= (n.3661+23G=)
c.3595+23G= (n.3595+23G=)
c.3008+23G= (n.3008+23G=)
c.3064+23G= (n.3064+23G=)
c.3664+23G= (n.3664+23G=)
c.3169+23G= (n.3169+23G=)
c.3682+23G= (n.3682+23G=)
c.3400+23G= (n.3400+23G=)
c.3544+23G= (n.3544+23G=)
c.3541+23G= (n.3541+23G=)
c.3403+23G= (n.3403+23G=)
c.3076+23G= (n.3076+23G=)
c.3073+23G= (n.3073+23G=)
c.3172+23G= (n.3172+23G=)
c.*3100+23G= (n.*3100+23G=)
c.2106+182764G= (n.2106+182764G=)
n.163+23G=
3g.184327471G>TCA1425958511EIF2B5,EIF4G1c.3661+23G>T (n.3661+23G>T)
c.3595+23G>T (n.3595+23G>T)
c.3008+23G>T (n.3008+23G>T)
c.3064+23G>T (n.3064+23G>T)
c.3664+23G>T (n.3664+23G>T)
c.3169+23G>T (n.3169+23G>T)
c.3682+23G>T (n.3682+23G>T)
c.3400+23G>T (n.3400+23G>T)
c.3544+23G>T (n.3544+23G>T)
c.3541+23G>T (n.3541+23G>T)
c.3403+23G>T (n.3403+23G>T)
c.3076+23G>T (n.3076+23G>T)
c.3073+23G>T (n.3073+23G>T)
c.3172+23G>T (n.3172+23G>T)
c.*3100+23G>T (n.*3100+23G>T)
c.2106+182764G>T (n.2106+182764G>T)
n.163+23G>T
 dbSNP
3g.184327474G>ACA2668840914EIF2B5,EIF4G1c.3661+26G>A (n.3661+26G>A)
c.3595+26G>A (n.3595+26G>A)
c.3008+26G>A (n.3008+26G>A)
c.3064+26G>A (n.3064+26G>A)
c.3664+26G>A (n.3664+26G>A)
c.3169+26G>A (n.3169+26G>A)
c.3682+26G>A (n.3682+26G>A)
c.3400+26G>A (n.3400+26G>A)
c.3544+26G>A (n.3544+26G>A)
c.3541+26G>A (n.3541+26G>A)
c.3403+26G>A (n.3403+26G>A)
c.3076+26G>A (n.3076+26G>A)
c.3073+26G>A (n.3073+26G>A)
c.3172+26G>A (n.3172+26G>A)
c.*3100+26G>A (n.*3100+26G>A)
c.2106+182767G>A (n.2106+182767G>A)
n.163+26G>A
 gnomAD v4
3g.184327476A=CA1425958512EIF2B5,EIF4G1c.3661+28A= (n.3661+28A=)
c.3595+28A= (n.3595+28A=)
c.3008+28A= (n.3008+28A=)
c.3064+28A= (n.3064+28A=)
c.3664+28A= (n.3664+28A=)
c.3169+28A= (n.3169+28A=)
c.3682+28A= (n.3682+28A=)
c.3400+28A= (n.3400+28A=)
c.3544+28A= (n.3544+28A=)
c.3541+28A= (n.3541+28A=)
c.3403+28A= (n.3403+28A=)
c.3076+28A= (n.3076+28A=)
c.3073+28A= (n.3073+28A=)
c.3172+28A= (n.3172+28A=)
c.*3100+28A= (n.*3100+28A=)
c.2106+182769A= (n.2106+182769A=)
n.163+28A=
3g.184327476A>GCA1425958513EIF2B5,EIF4G1c.3661+28A>G (n.3661+28A>G)
c.3595+28A>G (n.3595+28A>G)
c.3008+28A>G (n.3008+28A>G)
c.3064+28A>G (n.3064+28A>G)
c.3664+28A>G (n.3664+28A>G)
c.3169+28A>G (n.3169+28A>G)
c.3682+28A>G (n.3682+28A>G)
c.3400+28A>G (n.3400+28A>G)
c.3544+28A>G (n.3544+28A>G)
c.3541+28A>G (n.3541+28A>G)
c.3403+28A>G (n.3403+28A>G)
c.3076+28A>G (n.3076+28A>G)
c.3073+28A>G (n.3073+28A>G)
c.3172+28A>G (n.3172+28A>G)
c.*3100+28A>G (n.*3100+28A>G)
c.2106+182769A>G (n.2106+182769A>G)
n.163+28A>G
 dbSNP
3g.184327478A=CA1425958514EIF2B5,EIF4G1c.3661+30A= (n.3661+30A=)
c.3595+30A= (n.3595+30A=)
c.3008+30A= (n.3008+30A=)
c.3064+30A= (n.3064+30A=)
c.3664+30A= (n.3664+30A=)
c.3169+30A= (n.3169+30A=)
c.3682+30A= (n.3682+30A=)
c.3400+30A= (n.3400+30A=)
c.3544+30A= (n.3544+30A=)
c.3541+30A= (n.3541+30A=)
c.3403+30A= (n.3403+30A=)
c.3076+30A= (n.3076+30A=)
c.3073+30A= (n.3073+30A=)
c.3172+30A= (n.3172+30A=)
c.*3100+30A= (n.*3100+30A=)
c.2106+182771A= (n.2106+182771A=)
n.163+30A=
3g.184327478A>GCA88867771EIF2B5,EIF4G1c.3661+30A>G (n.3661+30A>G)
c.3595+30A>G (n.3595+30A>G)
c.3008+30A>G (n.3008+30A>G)
c.3064+30A>G (n.3064+30A>G)
c.3664+30A>G (n.3664+30A>G)
c.3169+30A>G (n.3169+30A>G)
c.3682+30A>G (n.3682+30A>G)
c.3400+30A>G (n.3400+30A>G)
c.3544+30A>G (n.3544+30A>G)
c.3541+30A>G (n.3541+30A>G)
c.3403+30A>G (n.3403+30A>G)
c.3076+30A>G (n.3076+30A>G)
c.3073+30A>G (n.3073+30A>G)
c.3172+30A>G (n.3172+30A>G)
c.*3100+30A>G (n.*3100+30A>G)
c.2106+182771A>G (n.2106+182771A>G)
n.163+30A>G
 dbSNP gnomAD v3 gnomAD v4
3g.184327479G>ACA548795619EIF2B5,EIF4G1c.3661+31G>A (n.3661+31G>A)
c.3595+31G>A (n.3595+31G>A)
c.3008+31G>A (n.3008+31G>A)
c.3064+31G>A (n.3064+31G>A)
c.3664+31G>A (n.3664+31G>A)
c.3169+31G>A (n.3169+31G>A)
c.3682+31G>A (n.3682+31G>A)
c.3400+31G>A (n.3400+31G>A)
c.3544+31G>A (n.3544+31G>A)
c.3541+31G>A (n.3541+31G>A)
c.3403+31G>A (n.3403+31G>A)
c.3076+31G>A (n.3076+31G>A)
c.3073+31G>A (n.3073+31G>A)
c.3172+31G>A (n.3172+31G>A)
c.*3100+31G>A (n.*3100+31G>A)
c.2106+182772G>A (n.2106+182772G>A)
n.163+31G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.184327479G=CA1425958518EIF2B5,EIF4G1c.3661+31G= (n.3661+31G=)
c.3595+31G= (n.3595+31G=)
c.3008+31G= (n.3008+31G=)
c.3064+31G= (n.3064+31G=)
c.3664+31G= (n.3664+31G=)
c.3169+31G= (n.3169+31G=)
c.3682+31G= (n.3682+31G=)
c.3400+31G= (n.3400+31G=)
c.3544+31G= (n.3544+31G=)
c.3541+31G= (n.3541+31G=)
c.3403+31G= (n.3403+31G=)
c.3076+31G= (n.3076+31G=)
c.3073+31G= (n.3073+31G=)
c.3172+31G= (n.3172+31G=)
c.*3100+31G= (n.*3100+31G=)
c.2106+182772G= (n.2106+182772G=)
n.163+31G=
3g.184327481C=CA1425958519EIF2B5,EIF4G1c.3661+33C= (n.3661+33C=)
c.3595+33C= (n.3595+33C=)
c.3008+33C= (n.3008+33C=)
c.3064+33C= (n.3064+33C=)
c.3664+33C= (n.3664+33C=)
c.3169+33C= (n.3169+33C=)
c.3682+33C= (n.3682+33C=)
c.3400+33C= (n.3400+33C=)
c.3544+33C= (n.3544+33C=)
c.3541+33C= (n.3541+33C=)
c.3403+33C= (n.3403+33C=)
c.3076+33C= (n.3076+33C=)
c.3073+33C= (n.3073+33C=)
c.3172+33C= (n.3172+33C=)
c.*3100+33C= (n.*3100+33C=)
c.2106+182774C= (n.2106+182774C=)
n.163+33C=
3g.184327481C>TCA2732873EIF2B5,EIF4G1c.3661+33C>T (n.3661+33C>T)
c.3595+33C>T (n.3595+33C>T)
c.3008+33C>T (n.3008+33C>T)
c.3064+33C>T (n.3064+33C>T)
c.3664+33C>T (n.3664+33C>T)
c.3169+33C>T (n.3169+33C>T)
c.3682+33C>T (n.3682+33C>T)
c.3400+33C>T (n.3400+33C>T)
c.3544+33C>T (n.3544+33C>T)
c.3541+33C>T (n.3541+33C>T)
c.3403+33C>T (n.3403+33C>T)
c.3076+33C>T (n.3076+33C>T)
c.3073+33C>T (n.3073+33C>T)
c.3172+33C>T (n.3172+33C>T)
c.*3100+33C>T (n.*3100+33C>T)
c.2106+182774C>T (n.2106+182774C>T)
n.163+33C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.184327483T>CCA548795620EIF2B5,EIF4G1c.3661+35T>C (n.3661+35T>C)
c.3595+35T>C (n.3595+35T>C)
c.3008+35T>C (n.3008+35T>C)
c.3064+35T>C (n.3064+35T>C)
c.3664+35T>C (n.3664+35T>C)
c.3169+35T>C (n.3169+35T>C)
c.3682+35T>C (n.3682+35T>C)
c.3400+35T>C (n.3400+35T>C)
c.3544+35T>C (n.3544+35T>C)
c.3541+35T>C (n.3541+35T>C)
c.3403+35T>C (n.3403+35T>C)
c.3076+35T>C (n.3076+35T>C)
c.3073+35T>C (n.3073+35T>C)
c.3172+35T>C (n.3172+35T>C)
c.*3100+35T>C (n.*3100+35T>C)
c.2106+182776T>C (n.2106+182776T>C)
n.163+35T>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.184327483T=CA1425958522EIF2B5,EIF4G1c.3661+35T= (n.3661+35T=)
c.3595+35T= (n.3595+35T=)
c.3008+35T= (n.3008+35T=)
c.3064+35T= (n.3064+35T=)
c.3664+35T= (n.3664+35T=)
c.3169+35T= (n.3169+35T=)
c.3682+35T= (n.3682+35T=)
c.3400+35T= (n.3400+35T=)
c.3544+35T= (n.3544+35T=)
c.3541+35T= (n.3541+35T=)
c.3403+35T= (n.3403+35T=)
c.3076+35T= (n.3076+35T=)
c.3073+35T= (n.3073+35T=)
c.3172+35T= (n.3172+35T=)
c.*3100+35T= (n.*3100+35T=)
c.2106+182776T= (n.2106+182776T=)
n.163+35T=
3g.184327485G>ACA2668840929EIF2B5,EIF4G1c.3661+37G>A (n.3661+37G>A)
c.3595+37G>A (n.3595+37G>A)
c.3008+37G>A (n.3008+37G>A)
c.3064+37G>A (n.3064+37G>A)
c.3664+37G>A (n.3664+37G>A)
c.3169+37G>A (n.3169+37G>A)
c.3682+37G>A (n.3682+37G>A)
c.3400+37G>A (n.3400+37G>A)
c.3544+37G>A (n.3544+37G>A)
c.3541+37G>A (n.3541+37G>A)
c.3403+37G>A (n.3403+37G>A)
c.3076+37G>A (n.3076+37G>A)
c.3073+37G>A (n.3073+37G>A)
c.3172+37G>A (n.3172+37G>A)
c.*3100+37G>A (n.*3100+37G>A)
c.2106+182778G>A (n.2106+182778G>A)
n.163+37G>A
 gnomAD v4

Number of alleles fetched