| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.46999920_47000275del | CA913187439 | NBEAL2 | c.3821_4176del (p.Val1274GlyfsTer?) c.3719_4074del (p.Val1240GlyfsTer?) c.1960-276_2039del c.293_648del (p.Val98GlyfsTer?) c.3740_4095del (p.Val1247GlyfsTer?) c.3800_4155del (p.Val1267GlyfsTer?) c.3452_3807del (p.Val1151GlyfsTer?) c.3281_3636del (p.Val1094GlyfsTer?) c.3167_3522del (p.Val1056GlyfsTer?) c.2729_3084del (p.Val910GlyfsTer?) n.3997_4352del | |
| 3 | g.47000169A>C | CA352516853 | NBEAL2 | c.4070A>C (p.Asp1357Ala) c.3968A>C (p.Asp1323Ala) n.407A>C c.1960-27A>C c.542A>C (p.Asp181Ala) c.3989A>C (p.Asp1330Ala) c.4049A>C (p.Asp1350Ala) c.3701A>C (p.Asp1234Ala) c.3530A>C (p.Asp1177Ala) c.3416A>C (p.Asp1139Ala) c.2978A>C (p.Asp993Ala) n.4246A>C | |
| 3 | g.47000169A>G | CA352516854 | NBEAL2 | c.4070A>G (p.Asp1357Gly) c.3968A>G (p.Asp1323Gly) n.407A>G c.1960-27A>G c.542A>G (p.Asp181Gly) c.3989A>G (p.Asp1330Gly) c.4049A>G (p.Asp1350Gly) c.3701A>G (p.Asp1234Gly) c.3530A>G (p.Asp1177Gly) c.3416A>G (p.Asp1139Gly) c.2978A>G (p.Asp993Gly) n.4246A>G | |
| 3 | g.47000169A>T | CA352516855 | NBEAL2 | c.4070A>T (p.Asp1357Val) c.3968A>T (p.Asp1323Val) n.407A>T c.1960-27A>T c.542A>T (p.Asp181Val) c.3989A>T (p.Asp1330Val) c.4049A>T (p.Asp1350Val) c.3701A>T (p.Asp1234Val) c.3530A>T (p.Asp1177Val) c.3416A>T (p.Asp1139Val) c.2978A>T (p.Asp993Val) n.4246A>T | |
| 3 | g.47000170C>A | CA352516857 | NBEAL2 | c.4071C>A (p.Asp1357Glu) c.3969C>A (p.Asp1323Glu) n.408C>A c.1960-26C>A c.543C>A (p.Asp181Glu) c.3990C>A (p.Asp1330Glu) c.4050C>A (p.Asp1350Glu) c.3702C>A (p.Asp1234Glu) c.3531C>A (p.Asp1177Glu) c.3417C>A (p.Asp1139Glu) c.2979C>A (p.Asp993Glu) n.4247C>A | |
| 3 | g.47000170C= | CA1362363051 | NBEAL2 | c.4071C= (p.Asp1357=) c.3969C= (p.Asp1323=) n.408C= c.1960-26C= c.543C= (p.Asp181=) c.3990C= (p.Asp1330=) c.4050C= (p.Asp1350=) c.3702C= (p.Asp1234=) c.3531C= (p.Asp1177=) c.3417C= (p.Asp1139=) c.2979C= (p.Asp993=) n.4247C= | |
| 3 | g.47000170C>G | CA352516856 | NBEAL2 | c.4071C>G (p.Asp1357Glu) c.3969C>G (p.Asp1323Glu) n.408C>G c.1960-26C>G c.543C>G (p.Asp181Glu) c.3990C>G (p.Asp1330Glu) c.4050C>G (p.Asp1350Glu) c.3702C>G (p.Asp1234Glu) c.3531C>G (p.Asp1177Glu) c.3417C>G (p.Asp1139Glu) c.2979C>G (p.Asp993Glu) n.4247C>G | |
| 3 | g.47000170C>T | CA433598404 | NBEAL2 | c.4071C>T (p.Asp1357=) c.3969C>T (p.Asp1323=) n.408C>T c.1960-26C>T c.543C>T (p.Asp181=) c.3990C>T (p.Asp1330=) c.4050C>T (p.Asp1350=) c.3702C>T (p.Asp1234=) c.3531C>T (p.Asp1177=) c.3417C>T (p.Asp1139=) c.2979C>T (p.Asp993=) n.4247C>T | dbSNP |
| 3 | g.47000171C>A | CA352516858 | NBEAL2 | c.4072C>A (p.Leu1358Met) c.3970C>A (p.Leu1324Met) n.409C>A c.1960-25C>A c.544C>A (p.Leu182Met) c.3991C>A (p.Leu1331Met) c.4051C>A (p.Leu1351Met) c.3703C>A (p.Leu1235Met) c.3532C>A (p.Leu1178Met) c.3418C>A (p.Leu1140Met) c.2980C>A (p.Leu994Met) n.4248C>A | |
| 3 | g.47000171C= | CA1362363052 | NBEAL2 | c.4072C= (p.Leu1358=) c.3970C= (p.Leu1324=) n.409C= c.1960-25C= c.544C= (p.Leu182=) c.3991C= (p.Leu1331=) c.4051C= (p.Leu1351=) c.3703C= (p.Leu1235=) c.3532C= (p.Leu1178=) c.3418C= (p.Leu1140=) c.2980C= (p.Leu994=) n.4248C= | |
| 3 | g.47000171C>G | CA352516859 | NBEAL2 | c.4072C>G (p.Leu1358Val) c.3970C>G (p.Leu1324Val) n.409C>G c.1960-25C>G c.544C>G (p.Leu182Val) c.3991C>G (p.Leu1331Val) c.4051C>G (p.Leu1351Val) c.3703C>G (p.Leu1235Val) c.3532C>G (p.Leu1178Val) c.3418C>G (p.Leu1140Val) c.2980C>G (p.Leu994Val) n.4248C>G | |
| 3 | g.47000171C>T | CA433598405 | NBEAL2 | c.4072C>T (p.Leu1358=) c.3970C>T (p.Leu1324=) n.409C>T c.1960-25C>T c.544C>T (p.Leu182=) c.3991C>T (p.Leu1331=) c.4051C>T (p.Leu1351=) c.3703C>T (p.Leu1235=) c.3532C>T (p.Leu1178=) c.3418C>T (p.Leu1140=) c.2980C>T (p.Leu994=) n.4248C>T | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.47000172T>A | CA352516860 | NBEAL2 | c.4073T>A (p.Leu1358Gln) c.3971T>A (p.Leu1324Gln) n.410T>A c.1960-24T>A c.545T>A (p.Leu182Gln) c.3992T>A (p.Leu1331Gln) c.4052T>A (p.Leu1351Gln) c.3704T>A (p.Leu1235Gln) c.3533T>A (p.Leu1178Gln) c.3419T>A (p.Leu1140Gln) c.2981T>A (p.Leu994Gln) n.4249T>A | |
| 3 | g.47000172T>C | CA352516861 | NBEAL2 | c.4073T>C (p.Leu1358Pro) c.3971T>C (p.Leu1324Pro) n.410T>C c.1960-24T>C c.545T>C (p.Leu182Pro) c.3992T>C (p.Leu1331Pro) c.4052T>C (p.Leu1351Pro) c.3704T>C (p.Leu1235Pro) c.3533T>C (p.Leu1178Pro) c.3419T>C (p.Leu1140Pro) c.2981T>C (p.Leu994Pro) n.4249T>C | ClinVar gnomAD v4 |
| 3 | g.47000172T>G | CA352516862 | NBEAL2 | c.4073T>G (p.Leu1358Arg) c.3971T>G (p.Leu1324Arg) n.410T>G c.1960-24T>G c.545T>G (p.Leu182Arg) c.3992T>G (p.Leu1331Arg) c.4052T>G (p.Leu1351Arg) c.3704T>G (p.Leu1235Arg) c.3533T>G (p.Leu1178Arg) c.3419T>G (p.Leu1140Arg) c.2981T>G (p.Leu994Arg) n.4249T>G | |
| 3 | g.47000173G>A | CA433598407 | NBEAL2 | c.4074G>A (p.Leu1358=) c.3972G>A (p.Leu1324=) n.411G>A c.1960-23G>A c.546G>A (p.Leu182=) c.3993G>A (p.Leu1331=) c.4053G>A (p.Leu1351=) c.3705G>A (p.Leu1235=) c.3534G>A (p.Leu1178=) c.3420G>A (p.Leu1140=) c.2982G>A (p.Leu994=) n.4250G>A | |
| 3 | g.47000173G>C | CA433598409 | NBEAL2 | c.4074G>C (p.Leu1358=) c.3972G>C (p.Leu1324=) n.411G>C c.1960-23G>C c.546G>C (p.Leu182=) c.3993G>C (p.Leu1331=) c.4053G>C (p.Leu1351=) c.3705G>C (p.Leu1235=) c.3534G>C (p.Leu1178=) c.3420G>C (p.Leu1140=) c.2982G>C (p.Leu994=) n.4250G>C | |
| 3 | g.47000173G>T | CA433598410 | NBEAL2 | c.4074G>T (p.Leu1358=) c.3972G>T (p.Leu1324=) n.411G>T c.1960-23G>T c.546G>T (p.Leu182=) c.3993G>T (p.Leu1331=) c.4053G>T (p.Leu1351=) c.3705G>T (p.Leu1235=) c.3534G>T (p.Leu1178=) c.3420G>T (p.Leu1140=) c.2982G>T (p.Leu994=) n.4250G>T | |
| 3 | g.47000174G>A | CA352516863 | NBEAL2 | c.4075G>A (p.Gly1359Ser) c.3973G>A (p.Gly1325Ser) n.412G>A c.1960-22G>A c.547G>A (p.Gly183Ser) c.3994G>A (p.Gly1332Ser) c.4054G>A (p.Gly1352Ser) c.3706G>A (p.Gly1236Ser) c.3535G>A (p.Gly1179Ser) c.3421G>A (p.Gly1141Ser) c.2983G>A (p.Gly995Ser) n.4251G>A | gnomAD v4 |
| 3 | g.47000174G>C | CA352516864 | NBEAL2 | c.4075G>C (p.Gly1359Arg) c.3973G>C (p.Gly1325Arg) n.412G>C c.1960-22G>C c.547G>C (p.Gly183Arg) c.3994G>C (p.Gly1332Arg) c.4054G>C (p.Gly1352Arg) c.3706G>C (p.Gly1236Arg) c.3535G>C (p.Gly1179Arg) c.3421G>C (p.Gly1141Arg) c.2983G>C (p.Gly995Arg) n.4251G>C | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.47000174G= | CA1362363053 | NBEAL2 | c.4075G= (p.Gly1359=) c.3973G= (p.Gly1325=) n.412G= c.1960-22G= c.547G= (p.Gly183=) c.3994G= (p.Gly1332=) c.4054G= (p.Gly1352=) c.3706G= (p.Gly1236=) c.3535G= (p.Gly1179=) c.3421G= (p.Gly1141=) c.2983G= (p.Gly995=) n.4251G= | |
| 3 | g.47000174G>T | CA352516865 | NBEAL2 | c.4075G>T (p.Gly1359Cys) c.3973G>T (p.Gly1325Cys) n.412G>T c.1960-22G>T c.547G>T (p.Gly183Cys) c.3994G>T (p.Gly1332Cys) c.4054G>T (p.Gly1352Cys) c.3706G>T (p.Gly1236Cys) c.3535G>T (p.Gly1179Cys) c.3421G>T (p.Gly1141Cys) c.2983G>T (p.Gly995Cys) n.4251G>T | |
| 3 | g.47000175G>A | CA352516866 | NBEAL2 | c.4076G>A (p.Gly1359Asp) c.3974G>A (p.Gly1325Asp) n.413G>A c.1960-21G>A c.548G>A (p.Gly183Asp) c.3995G>A (p.Gly1332Asp) c.4055G>A (p.Gly1352Asp) c.3707G>A (p.Gly1236Asp) c.3536G>A (p.Gly1179Asp) c.3422G>A (p.Gly1141Asp) c.2984G>A (p.Gly995Asp) n.4252G>A | gnomAD v4 |
| 3 | g.47000175G>C | CA352516867 | NBEAL2 | c.4076G>C (p.Gly1359Ala) c.3974G>C (p.Gly1325Ala) n.413G>C c.1960-21G>C c.548G>C (p.Gly183Ala) c.3995G>C (p.Gly1332Ala) c.4055G>C (p.Gly1352Ala) c.3707G>C (p.Gly1236Ala) c.3536G>C (p.Gly1179Ala) c.3422G>C (p.Gly1141Ala) c.2984G>C (p.Gly995Ala) n.4252G>C | |
| 3 | g.47000175G>T | CA352516868 | NBEAL2 | c.4076G>T (p.Gly1359Val) c.3974G>T (p.Gly1325Val) n.413G>T c.1960-21G>T c.548G>T (p.Gly183Val) c.3995G>T (p.Gly1332Val) c.4055G>T (p.Gly1352Val) c.3707G>T (p.Gly1236Val) c.3536G>T (p.Gly1179Val) c.3422G>T (p.Gly1141Val) c.2984G>T (p.Gly995Val) n.4252G>T | gnomAD v4 |
| 3 | g.47000176C>A | CA433598412 | NBEAL2 | c.4077C>A (p.Gly1359=) c.3975C>A (p.Gly1325=) n.414C>A c.1960-20C>A c.549C>A (p.Gly183=) c.3996C>A (p.Gly1332=) c.4056C>A (p.Gly1352=) c.3708C>A (p.Gly1236=) c.3537C>A (p.Gly1179=) c.3423C>A (p.Gly1141=) c.2985C>A (p.Gly995=) n.4253C>A | |
| 3 | g.47000176C>G | CA433598413 | NBEAL2 | c.4077C>G (p.Gly1359=) c.3975C>G (p.Gly1325=) n.414C>G c.1960-20C>G c.549C>G (p.Gly183=) c.3996C>G (p.Gly1332=) c.4056C>G (p.Gly1352=) c.3708C>G (p.Gly1236=) c.3537C>G (p.Gly1179=) c.3423C>G (p.Gly1141=) c.2985C>G (p.Gly995=) n.4253C>G | |
| 3 | g.47000176C>T | CA433598414 | NBEAL2 | c.4077C>T (p.Gly1359=) c.3975C>T (p.Gly1325=) n.414C>T c.1960-20C>T c.549C>T (p.Gly183=) c.3996C>T (p.Gly1332=) c.4056C>T (p.Gly1352=) c.3708C>T (p.Gly1236=) c.3537C>T (p.Gly1179=) c.3423C>T (p.Gly1141=) c.2985C>T (p.Gly995=) n.4253C>T | gnomAD v4 |
| 3 | g.47000177C>A | CA352516869 | NBEAL2 | c.4078C>A (p.Leu1360Met) c.3976C>A (p.Leu1326Met) n.415C>A c.1960-19C>A c.550C>A (p.Leu184Met) c.3997C>A (p.Leu1333Met) c.4057C>A (p.Leu1353Met) c.3709C>A (p.Leu1237Met) c.3538C>A (p.Leu1180Met) c.3424C>A (p.Leu1142Met) c.2986C>A (p.Leu996Met) n.4254C>A | |
| 3 | g.47000177C>G | CA352516870 | NBEAL2 | c.4078C>G (p.Leu1360Val) c.3976C>G (p.Leu1326Val) n.415C>G c.1960-19C>G c.550C>G (p.Leu184Val) c.3997C>G (p.Leu1333Val) c.4057C>G (p.Leu1353Val) c.3709C>G (p.Leu1237Val) c.3538C>G (p.Leu1180Val) c.3424C>G (p.Leu1142Val) c.2986C>G (p.Leu996Val) n.4254C>G | |
| 3 | g.47000177C>T | CA433598415 | NBEAL2 | c.4078C>T (p.Leu1360=) c.3976C>T (p.Leu1326=) n.415C>T c.1960-19C>T c.550C>T (p.Leu184=) c.3997C>T (p.Leu1333=) c.4057C>T (p.Leu1353=) c.3709C>T (p.Leu1237=) c.3538C>T (p.Leu1180=) c.3424C>T (p.Leu1142=) c.2986C>T (p.Leu996=) n.4254C>T | |
| 3 | g.47000178T>A | CA352516871 | NBEAL2 | c.4079T>A (p.Leu1360Gln) c.3977T>A (p.Leu1326Gln) n.416T>A c.1960-18T>A c.551T>A (p.Leu184Gln) c.3998T>A (p.Leu1333Gln) c.4058T>A (p.Leu1353Gln) c.3710T>A (p.Leu1237Gln) c.3539T>A (p.Leu1180Gln) c.3425T>A (p.Leu1142Gln) c.2987T>A (p.Leu996Gln) n.4255T>A | |
| 3 | g.47000178T>C | CA352516873 | NBEAL2 | c.4079T>C (p.Leu1360Pro) c.3977T>C (p.Leu1326Pro) n.416T>C c.1960-18T>C c.551T>C (p.Leu184Pro) c.3998T>C (p.Leu1333Pro) c.4058T>C (p.Leu1353Pro) c.3710T>C (p.Leu1237Pro) c.3539T>C (p.Leu1180Pro) c.3425T>C (p.Leu1142Pro) c.2987T>C (p.Leu996Pro) n.4255T>C | |
| 3 | g.47000178T>G | CA352516872 | NBEAL2 | c.4079T>G (p.Leu1360Arg) c.3977T>G (p.Leu1326Arg) n.416T>G c.1960-18T>G c.551T>G (p.Leu184Arg) c.3998T>G (p.Leu1333Arg) c.4058T>G (p.Leu1353Arg) c.3710T>G (p.Leu1237Arg) c.3539T>G (p.Leu1180Arg) c.3425T>G (p.Leu1142Arg) c.2987T>G (p.Leu996Arg) n.4255T>G | |
| 3 | g.47000179G>A | CA433598418 | NBEAL2 | c.4080G>A (p.Leu1360=) c.3978G>A (p.Leu1326=) n.417G>A c.1960-17G>A c.552G>A (p.Leu184=) c.3999G>A (p.Leu1333=) c.4059G>A (p.Leu1353=) c.3711G>A (p.Leu1237=) c.3540G>A (p.Leu1180=) c.3426G>A (p.Leu1142=) c.2988G>A (p.Leu996=) n.4256G>A | |
| 3 | g.47000179G>C | CA433598420 | NBEAL2 | c.4080G>C (p.Leu1360=) c.3978G>C (p.Leu1326=) n.417G>C c.1960-17G>C c.552G>C (p.Leu184=) c.3999G>C (p.Leu1333=) c.4059G>C (p.Leu1353=) c.3711G>C (p.Leu1237=) c.3540G>C (p.Leu1180=) c.3426G>C (p.Leu1142=) c.2988G>C (p.Leu996=) n.4256G>C | |
| 3 | g.47000179G>T | CA433598421 | NBEAL2 | c.4080G>T (p.Leu1360=) c.3978G>T (p.Leu1326=) n.417G>T c.1960-17G>T c.552G>T (p.Leu184=) c.3999G>T (p.Leu1333=) c.4059G>T (p.Leu1353=) c.3711G>T (p.Leu1237=) c.3540G>T (p.Leu1180=) c.3426G>T (p.Leu1142=) c.2988G>T (p.Leu996=) n.4256G>T | |
| 3 | g.47000180G>A | CA352516874 | NBEAL2 | c.4081G>A (p.Glu1361Lys) c.3979G>A (p.Glu1327Lys) n.418G>A c.1960-16G>A c.553G>A (p.Glu185Lys) c.4000G>A (p.Glu1334Lys) c.4060G>A (p.Glu1354Lys) c.3712G>A (p.Glu1238Lys) c.3541G>A (p.Glu1181Lys) c.3427G>A (p.Glu1143Lys) c.2989G>A (p.Glu997Lys) n.4257G>A | |
| 3 | g.47000180G>C | CA352516875 | NBEAL2 | c.4081G>C (p.Glu1361Gln) c.3979G>C (p.Glu1327Gln) n.418G>C c.1960-16G>C c.553G>C (p.Glu185Gln) c.4000G>C (p.Glu1334Gln) c.4060G>C (p.Glu1354Gln) c.3712G>C (p.Glu1238Gln) c.3541G>C (p.Glu1181Gln) c.3427G>C (p.Glu1143Gln) c.2989G>C (p.Glu997Gln) n.4257G>C | |
| 3 | g.47000180G= | CA1362363054 | NBEAL2 | c.4081G= (p.Glu1361=) c.3979G= (p.Glu1327=) n.418G= c.1960-16G= c.553G= (p.Glu185=) c.4000G= (p.Glu1334=) c.4060G= (p.Glu1354=) c.3712G= (p.Glu1238=) c.3541G= (p.Glu1181=) c.3427G= (p.Glu1143=) c.2989G= (p.Glu997=) n.4257G= | |
| 3 | g.47000180G>T | CA352516876 | NBEAL2 | c.4081G>T (p.Glu1361Ter) c.3979G>T (p.Glu1327Ter) n.418G>T c.1960-16G>T c.553G>T (p.Glu185Ter) c.4000G>T (p.Glu1334Ter) c.4060G>T (p.Glu1354Ter) c.3712G>T (p.Glu1238Ter) c.3541G>T (p.Glu1181Ter) c.3427G>T (p.Glu1143Ter) c.2989G>T (p.Glu997Ter) n.4257G>T | ClinVar dbSNP gnomAD v4 |
| 3 | g.47000181A= | CA1362363055 | NBEAL2 | c.4082A= (p.Glu1361=) c.3980A= (p.Glu1327=) n.419A= c.1960-15A= c.554A= (p.Glu185=) c.4001A= (p.Glu1334=) c.4061A= (p.Glu1354=) c.3713A= (p.Glu1238=) c.3542A= (p.Glu1181=) c.3428A= (p.Glu1143=) c.2990A= (p.Glu997=) n.4258A= | |
| 3 | g.47000181A>C | CA352516877 | NBEAL2 | c.4082A>C (p.Glu1361Ala) c.3980A>C (p.Glu1327Ala) n.419A>C c.1960-15A>C c.554A>C (p.Glu185Ala) c.4001A>C (p.Glu1334Ala) c.4061A>C (p.Glu1354Ala) c.3713A>C (p.Glu1238Ala) c.3542A>C (p.Glu1181Ala) c.3428A>C (p.Glu1143Ala) c.2990A>C (p.Glu997Ala) n.4258A>C | |
| 3 | g.47000181A>G | CA352516878 | NBEAL2 | c.4082A>G (p.Glu1361Gly) c.3980A>G (p.Glu1327Gly) n.419A>G c.1960-15A>G c.554A>G (p.Glu185Gly) c.4001A>G (p.Glu1334Gly) c.4061A>G (p.Glu1354Gly) c.3713A>G (p.Glu1238Gly) c.3542A>G (p.Glu1181Gly) c.3428A>G (p.Glu1143Gly) c.2990A>G (p.Glu997Gly) n.4258A>G | |
| 3 | g.47000181A>T | CA352516879 | NBEAL2 | c.4082A>T (p.Glu1361Val) c.3980A>T (p.Glu1327Val) n.419A>T c.1960-15A>T c.554A>T (p.Glu185Val) c.4001A>T (p.Glu1334Val) c.4061A>T (p.Glu1354Val) c.3713A>T (p.Glu1238Val) c.3542A>T (p.Glu1181Val) c.3428A>T (p.Glu1143Val) c.2990A>T (p.Glu997Val) n.4258A>T | dbSNP |
| 3 | g.47000182A>C | CA352516880 | NBEAL2 | c.4083A>C (p.Glu1361Asp) c.3981A>C (p.Glu1327Asp) n.420A>C c.1960-14A>C c.555A>C (p.Glu185Asp) c.4002A>C (p.Glu1334Asp) c.4062A>C (p.Glu1354Asp) c.3714A>C (p.Glu1238Asp) c.3543A>C (p.Glu1181Asp) c.3429A>C (p.Glu1143Asp) c.2991A>C (p.Glu997Asp) n.4259A>C | |
| 3 | g.47000182A>G | CA433598422 | NBEAL2 | c.4083A>G (p.Glu1361=) c.3981A>G (p.Glu1327=) n.420A>G c.1960-14A>G c.555A>G (p.Glu185=) c.4002A>G (p.Glu1334=) c.4062A>G (p.Glu1354=) c.3714A>G (p.Glu1238=) c.3543A>G (p.Glu1181=) c.3429A>G (p.Glu1143=) c.2991A>G (p.Glu997=) n.4259A>G | |
| 3 | g.47000182A>T | CA352516881 | NBEAL2 | c.4083A>T (p.Glu1361Asp) c.3981A>T (p.Glu1327Asp) n.420A>T c.1960-14A>T c.555A>T (p.Glu185Asp) c.4002A>T (p.Glu1334Asp) c.4062A>T (p.Glu1354Asp) c.3714A>T (p.Glu1238Asp) c.3543A>T (p.Glu1181Asp) c.3429A>T (p.Glu1143Asp) c.2991A>T (p.Glu997Asp) n.4259A>T | gnomAD v4 |
| 3 | g.47000182_47000183delinsAC | CA1362363056 | NBEAL2 | c.4083_4084delinsAC (p.Glu1361=) c.3981_3982delinsAC (p.Glu1327=) n.420_421delinsAC c.1960-14_1960-13delinsAC c.555_556delinsAC (p.Glu185=) c.4002_4003delinsAC (p.Glu1334=) c.4062_4063delinsAC (p.Glu1354=) c.3714_3715delinsAC (p.Glu1238=) c.3543_3544delinsAC (p.Glu1181=) c.3429_3430delinsAC (p.Glu1143=) c.2991_2992delinsAC (p.Glu997=) n.4259_4260delinsAC | |
| 3 | g.47000183del | CA543042211 | NBEAL2 | c.4084del (p.Arg1362GlyfsTer4) c.3982del (p.Arg1328GlyfsTer4) n.421del c.1960-13del c.556del (p.Arg186GlyfsTer4) c.4003del (p.Arg1335GlyfsTer4) c.4063del (p.Arg1355GlyfsTer4) c.3715del (p.Arg1239GlyfsTer4) c.3544del (p.Arg1182GlyfsTer4) c.3430del (p.Arg1144GlyfsTer4) c.2992del (p.Arg998GlyfsTer4) n.4260del | dbSNP gnomAD v2 |