Chr Mutation (hg38) CAid Gene Transcript Linkouts
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

Number of alleles fetched