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.47000085C>A | CA352516667 | NBEAL2 | c.3986C>A (p.Ser1329Ter) c.3884C>A (p.Ser1295Ter) n.323C>A c.1960-111C>A c.458C>A (p.Ser153Ter) c.3905C>A (p.Ser1302Ter) c.3965C>A (p.Ser1322Ter) c.3617C>A (p.Ser1206Ter) c.3446C>A (p.Ser1149Ter) c.3332C>A (p.Ser1111Ter) c.2894C>A (p.Ser965Ter) n.4162C>A | |
3 | g.47000085C= | CA1362363013 | NBEAL2 | c.3986C= (p.Ser1329=) c.3884C= (p.Ser1295=) n.323C= c.1960-111C= c.458C= (p.Ser153=) c.3905C= (p.Ser1302=) c.3965C= (p.Ser1322=) c.3617C= (p.Ser1206=) c.3446C= (p.Ser1149=) c.3332C= (p.Ser1111=) c.2894C= (p.Ser965=) n.4162C= | |
3 | g.47000085C>G | CA352516669 | NBEAL2 | c.3986C>G (p.Ser1329Ter) c.3884C>G (p.Ser1295Ter) n.323C>G c.1960-111C>G c.458C>G (p.Ser153Ter) c.3905C>G (p.Ser1302Ter) c.3965C>G (p.Ser1322Ter) c.3617C>G (p.Ser1206Ter) c.3446C>G (p.Ser1149Ter) c.3332C>G (p.Ser1111Ter) c.2894C>G (p.Ser965Ter) n.4162C>G | |
3 | g.47000085C>T | CA352516671 | NBEAL2 | c.3986C>T (p.Ser1329Leu) c.3884C>T (p.Ser1295Leu) n.323C>T c.1960-111C>T c.458C>T (p.Ser153Leu) c.3905C>T (p.Ser1302Leu) c.3965C>T (p.Ser1322Leu) c.3617C>T (p.Ser1206Leu) c.3446C>T (p.Ser1149Leu) c.3332C>T (p.Ser1111Leu) c.2894C>T (p.Ser965Leu) n.4162C>T | dbSNP |
3 | g.47000086A>C | CA433598275 | NBEAL2 | c.3987A>C (p.Ser1329=) c.3885A>C (p.Ser1295=) n.324A>C c.1960-110A>C c.459A>C (p.Ser153=) c.3906A>C (p.Ser1302=) c.3966A>C (p.Ser1322=) c.3618A>C (p.Ser1206=) c.3447A>C (p.Ser1149=) c.3333A>C (p.Ser1111=) c.2895A>C (p.Ser965=) n.4163A>C | |
3 | g.47000086A>G | CA433598274 | NBEAL2 | c.3987A>G (p.Ser1329=) c.3885A>G (p.Ser1295=) n.324A>G c.1960-110A>G c.459A>G (p.Ser153=) c.3906A>G (p.Ser1302=) c.3966A>G (p.Ser1322=) c.3618A>G (p.Ser1206=) c.3447A>G (p.Ser1149=) c.3333A>G (p.Ser1111=) c.2895A>G (p.Ser965=) n.4163A>G | |
3 | g.47000086A>T | CA433598273 | NBEAL2 | c.3987A>T (p.Ser1329=) c.3885A>T (p.Ser1295=) n.324A>T c.1960-110A>T c.459A>T (p.Ser153=) c.3906A>T (p.Ser1302=) c.3966A>T (p.Ser1322=) c.3618A>T (p.Ser1206=) c.3447A>T (p.Ser1149=) c.3333A>T (p.Ser1111=) c.2895A>T (p.Ser965=) n.4163A>T | |
3 | g.47000087G>A | CA352516672 | NBEAL2 | c.3988G>A (p.Asp1330Asn) c.3886G>A (p.Asp1296Asn) n.325G>A c.1960-109G>A c.460G>A (p.Asp154Asn) c.3907G>A (p.Asp1303Asn) c.3967G>A (p.Asp1323Asn) c.3619G>A (p.Asp1207Asn) c.3448G>A (p.Asp1150Asn) c.3334G>A (p.Asp1112Asn) c.2896G>A (p.Asp966Asn) n.4164G>A | |
3 | g.47000087G>C | CA352516673 | NBEAL2 | c.3988G>C (p.Asp1330His) c.3886G>C (p.Asp1296His) n.325G>C c.1960-109G>C c.460G>C (p.Asp154His) c.3907G>C (p.Asp1303His) c.3967G>C (p.Asp1323His) c.3619G>C (p.Asp1207His) c.3448G>C (p.Asp1150His) c.3334G>C (p.Asp1112His) c.2896G>C (p.Asp966His) n.4164G>C | |
3 | g.47000087G>T | CA352516675 | NBEAL2 | c.3988G>T (p.Asp1330Tyr) c.3886G>T (p.Asp1296Tyr) n.325G>T c.1960-109G>T c.460G>T (p.Asp154Tyr) c.3907G>T (p.Asp1303Tyr) c.3967G>T (p.Asp1323Tyr) c.3619G>T (p.Asp1207Tyr) c.3448G>T (p.Asp1150Tyr) c.3334G>T (p.Asp1112Tyr) c.2896G>T (p.Asp966Tyr) n.4164G>T | |
3 | g.47000088A>C | CA352516677 | NBEAL2 | c.3989A>C (p.Asp1330Ala) c.3887A>C (p.Asp1296Ala) n.326A>C c.1960-108A>C c.461A>C (p.Asp154Ala) c.3908A>C (p.Asp1303Ala) c.3968A>C (p.Asp1323Ala) c.3620A>C (p.Asp1207Ala) c.3449A>C (p.Asp1150Ala) c.3335A>C (p.Asp1112Ala) c.2897A>C (p.Asp966Ala) n.4165A>C | |
3 | g.47000088A>G | CA352516679 | NBEAL2 | c.3989A>G (p.Asp1330Gly) c.3887A>G (p.Asp1296Gly) n.326A>G c.1960-108A>G c.461A>G (p.Asp154Gly) c.3908A>G (p.Asp1303Gly) c.3968A>G (p.Asp1323Gly) c.3620A>G (p.Asp1207Gly) c.3449A>G (p.Asp1150Gly) c.3335A>G (p.Asp1112Gly) c.2897A>G (p.Asp966Gly) n.4165A>G | |
3 | g.47000088A>T | CA352516681 | NBEAL2 | c.3989A>T (p.Asp1330Val) c.3887A>T (p.Asp1296Val) n.326A>T c.1960-108A>T c.461A>T (p.Asp154Val) c.3908A>T (p.Asp1303Val) c.3968A>T (p.Asp1323Val) c.3620A>T (p.Asp1207Val) c.3449A>T (p.Asp1150Val) c.3335A>T (p.Asp1112Val) c.2897A>T (p.Asp966Val) n.4165A>T | |
3 | g.47000089T>A | CA352516683 | NBEAL2 | c.3990T>A (p.Asp1330Glu) c.3888T>A (p.Asp1296Glu) n.327T>A c.1960-107T>A c.462T>A (p.Asp154Glu) c.3909T>A (p.Asp1303Glu) c.3969T>A (p.Asp1323Glu) c.3621T>A (p.Asp1207Glu) c.3450T>A (p.Asp1150Glu) c.3336T>A (p.Asp1112Glu) c.2898T>A (p.Asp966Glu) n.4166T>A | |
3 | g.47000089T>C | CA2361121 | NBEAL2 | c.3990T>C (p.Asp1330=) c.3888T>C (p.Asp1296=) n.327T>C c.1960-107T>C c.462T>C (p.Asp154=) c.3909T>C (p.Asp1303=) c.3969T>C (p.Asp1323=) c.3621T>C (p.Asp1207=) c.3450T>C (p.Asp1150=) c.3336T>C (p.Asp1112=) c.2898T>C (p.Asp966=) n.4166T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.47000089T>G | CA352516682 | NBEAL2 | c.3990T>G (p.Asp1330Glu) c.3888T>G (p.Asp1296Glu) n.327T>G c.1960-107T>G c.462T>G (p.Asp154Glu) c.3909T>G (p.Asp1303Glu) c.3969T>G (p.Asp1323Glu) c.3621T>G (p.Asp1207Glu) c.3450T>G (p.Asp1150Glu) c.3336T>G (p.Asp1112Glu) c.2898T>G (p.Asp966Glu) n.4166T>G | |
3 | g.47000089T= | CA1362363014 | NBEAL2 | c.3990T= (p.Asp1330=) c.3888T= (p.Asp1296=) n.327T= c.1960-107T= c.462T= (p.Asp154=) c.3909T= (p.Asp1303=) c.3969T= (p.Asp1323=) c.3621T= (p.Asp1207=) c.3450T= (p.Asp1150=) c.3336T= (p.Asp1112=) c.2898T= (p.Asp966=) n.4166T= | |
3 | g.47000090G>A | CA352516684 | NBEAL2 | c.3991G>A (p.Val1331Ile) c.3889G>A (p.Val1297Ile) n.328G>A c.1960-106G>A c.463G>A (p.Val155Ile) c.3910G>A (p.Val1304Ile) c.3970G>A (p.Val1324Ile) c.3622G>A (p.Val1208Ile) c.3451G>A (p.Val1151Ile) c.3337G>A (p.Val1113Ile) c.2899G>A (p.Val967Ile) n.4167G>A | gnomAD v4 |
3 | g.47000090G>C | CA352516685 | NBEAL2 | c.3991G>C (p.Val1331Leu) c.3889G>C (p.Val1297Leu) n.328G>C c.1960-106G>C c.463G>C (p.Val155Leu) c.3910G>C (p.Val1304Leu) c.3970G>C (p.Val1324Leu) c.3622G>C (p.Val1208Leu) c.3451G>C (p.Val1151Leu) c.3337G>C (p.Val1113Leu) c.2899G>C (p.Val967Leu) n.4167G>C | |
3 | g.47000090G>T | CA352516686 | NBEAL2 | c.3991G>T (p.Val1331Phe) c.3889G>T (p.Val1297Phe) n.328G>T c.1960-106G>T c.463G>T (p.Val155Phe) c.3910G>T (p.Val1304Phe) c.3970G>T (p.Val1324Phe) c.3622G>T (p.Val1208Phe) c.3451G>T (p.Val1151Phe) c.3337G>T (p.Val1113Phe) c.2899G>T (p.Val967Phe) n.4167G>T | gnomAD v4 |
3 | g.47000091T>A | CA352516687 | NBEAL2 | c.3992T>A (p.Val1331Asp) c.3890T>A (p.Val1297Asp) n.329T>A c.1960-105T>A c.464T>A (p.Val155Asp) c.3911T>A (p.Val1304Asp) c.3971T>A (p.Val1324Asp) c.3623T>A (p.Val1208Asp) c.3452T>A (p.Val1151Asp) c.3338T>A (p.Val1113Asp) c.2900T>A (p.Val967Asp) n.4168T>A | |
3 | g.47000091T>C | CA352516688 | NBEAL2 | c.3992T>C (p.Val1331Ala) c.3890T>C (p.Val1297Ala) n.329T>C c.1960-105T>C c.464T>C (p.Val155Ala) c.3911T>C (p.Val1304Ala) c.3971T>C (p.Val1324Ala) c.3623T>C (p.Val1208Ala) c.3452T>C (p.Val1151Ala) c.3338T>C (p.Val1113Ala) c.2900T>C (p.Val967Ala) n.4168T>C | |
3 | g.47000091T>G | CA352516689 | NBEAL2 | c.3992T>G (p.Val1331Gly) c.3890T>G (p.Val1297Gly) n.329T>G c.1960-105T>G c.464T>G (p.Val155Gly) c.3911T>G (p.Val1304Gly) c.3971T>G (p.Val1324Gly) c.3623T>G (p.Val1208Gly) c.3452T>G (p.Val1151Gly) c.3338T>G (p.Val1113Gly) c.2900T>G (p.Val967Gly) n.4168T>G | |
3 | g.47000092C>A | CA433598283 | NBEAL2 | c.3993C>A (p.Val1331=) c.3891C>A (p.Val1297=) n.330C>A c.1960-104C>A c.465C>A (p.Val155=) c.3912C>A (p.Val1304=) c.3972C>A (p.Val1324=) c.3624C>A (p.Val1208=) c.3453C>A (p.Val1151=) c.3339C>A (p.Val1113=) c.2901C>A (p.Val967=) n.4169C>A | |
3 | g.47000092C= | CA1362363015 | NBEAL2 | c.3993C= (p.Val1331=) c.3891C= (p.Val1297=) n.330C= c.1960-104C= c.465C= (p.Val155=) c.3912C= (p.Val1304=) c.3972C= (p.Val1324=) c.3624C= (p.Val1208=) c.3453C= (p.Val1151=) c.3339C= (p.Val1113=) c.2901C= (p.Val967=) n.4169C= | |
3 | g.47000092C>G | CA433598281 | NBEAL2 | c.3993C>G (p.Val1331=) c.3891C>G (p.Val1297=) n.330C>G c.1960-104C>G c.465C>G (p.Val155=) c.3912C>G (p.Val1304=) c.3972C>G (p.Val1324=) c.3624C>G (p.Val1208=) c.3453C>G (p.Val1151=) c.3339C>G (p.Val1113=) c.2901C>G (p.Val967=) n.4169C>G | |
3 | g.47000092C>T | CA433598282 | NBEAL2 | c.3993C>T (p.Val1331=) c.3891C>T (p.Val1297=) n.330C>T c.1960-104C>T c.465C>T (p.Val155=) c.3912C>T (p.Val1304=) c.3972C>T (p.Val1324=) c.3624C>T (p.Val1208=) c.3453C>T (p.Val1151=) c.3339C>T (p.Val1113=) c.2901C>T (p.Val967=) n.4169C>T | dbSNP |
3 | g.47000093T>A | CA352516690 | NBEAL2 | c.3994T>A (p.Phe1332Ile) c.3892T>A (p.Phe1298Ile) n.331T>A c.1960-103T>A c.466T>A (p.Phe156Ile) c.3913T>A (p.Phe1305Ile) c.3973T>A (p.Phe1325Ile) c.3625T>A (p.Phe1209Ile) c.3454T>A (p.Phe1152Ile) c.3340T>A (p.Phe1114Ile) c.2902T>A (p.Phe968Ile) n.4170T>A | |
3 | g.47000093T>C | CA352516691 | NBEAL2 | c.3994T>C (p.Phe1332Leu) c.3892T>C (p.Phe1298Leu) n.331T>C c.1960-103T>C c.466T>C (p.Phe156Leu) c.3913T>C (p.Phe1305Leu) c.3973T>C (p.Phe1325Leu) c.3625T>C (p.Phe1209Leu) c.3454T>C (p.Phe1152Leu) c.3340T>C (p.Phe1114Leu) c.2902T>C (p.Phe968Leu) n.4170T>C | |
3 | g.47000093T>G | CA352516692 | NBEAL2 | c.3994T>G (p.Phe1332Val) c.3892T>G (p.Phe1298Val) n.331T>G c.1960-103T>G c.466T>G (p.Phe156Val) c.3913T>G (p.Phe1305Val) c.3973T>G (p.Phe1325Val) c.3625T>G (p.Phe1209Val) c.3454T>G (p.Phe1152Val) c.3340T>G (p.Phe1114Val) c.2902T>G (p.Phe968Val) n.4170T>G | |
3 | g.47000094T>A | CA352516693 | NBEAL2 | c.3995T>A (p.Phe1332Tyr) c.3893T>A (p.Phe1298Tyr) n.332T>A c.1960-102T>A c.467T>A (p.Phe156Tyr) c.3914T>A (p.Phe1305Tyr) c.3974T>A (p.Phe1325Tyr) c.3626T>A (p.Phe1209Tyr) c.3455T>A (p.Phe1152Tyr) c.3341T>A (p.Phe1114Tyr) c.2903T>A (p.Phe968Tyr) n.4171T>A | |
3 | g.47000094T>C | CA352516694 | NBEAL2 | c.3995T>C (p.Phe1332Ser) c.3893T>C (p.Phe1298Ser) n.332T>C c.1960-102T>C c.467T>C (p.Phe156Ser) c.3914T>C (p.Phe1305Ser) c.3974T>C (p.Phe1325Ser) c.3626T>C (p.Phe1209Ser) c.3455T>C (p.Phe1152Ser) c.3341T>C (p.Phe1114Ser) c.2903T>C (p.Phe968Ser) n.4171T>C | dbSNP |
3 | g.47000094T>G | CA352516695 | NBEAL2 | c.3995T>G (p.Phe1332Cys) c.3893T>G (p.Phe1298Cys) n.332T>G c.1960-102T>G c.467T>G (p.Phe156Cys) c.3914T>G (p.Phe1305Cys) c.3974T>G (p.Phe1325Cys) c.3626T>G (p.Phe1209Cys) c.3455T>G (p.Phe1152Cys) c.3341T>G (p.Phe1114Cys) c.2903T>G (p.Phe968Cys) n.4171T>G | |
3 | g.47000094T= | CA1362363016 | NBEAL2 | c.3995T= (p.Phe1332=) c.3893T= (p.Phe1298=) n.332T= c.1960-102T= c.467T= (p.Phe156=) c.3914T= (p.Phe1305=) c.3974T= (p.Phe1325=) c.3626T= (p.Phe1209=) c.3455T= (p.Phe1152=) c.3341T= (p.Phe1114=) c.2903T= (p.Phe968=) n.4171T= | |
3 | g.47000095C>A | CA352516696 | NBEAL2 | c.3996C>A (p.Phe1332Leu) c.3894C>A (p.Phe1298Leu) n.333C>A c.1960-101C>A c.468C>A (p.Phe156Leu) c.3915C>A (p.Phe1305Leu) c.3975C>A (p.Phe1325Leu) c.3627C>A (p.Phe1209Leu) c.3456C>A (p.Phe1152Leu) c.3342C>A (p.Phe1114Leu) c.2904C>A (p.Phe968Leu) n.4172C>A | |
3 | g.47000095C>G | CA352516697 | NBEAL2 | c.3996C>G (p.Phe1332Leu) c.3894C>G (p.Phe1298Leu) n.333C>G c.1960-101C>G c.468C>G (p.Phe156Leu) c.3915C>G (p.Phe1305Leu) c.3975C>G (p.Phe1325Leu) c.3627C>G (p.Phe1209Leu) c.3456C>G (p.Phe1152Leu) c.3342C>G (p.Phe1114Leu) c.2904C>G (p.Phe968Leu) n.4172C>G | |
3 | g.47000095C>T | CA433598287 | NBEAL2 | c.3996C>T (p.Phe1332=) c.3894C>T (p.Phe1298=) n.333C>T c.1960-101C>T c.468C>T (p.Phe156=) c.3915C>T (p.Phe1305=) c.3975C>T (p.Phe1325=) c.3627C>T (p.Phe1209=) c.3456C>T (p.Phe1152=) c.3342C>T (p.Phe1114=) c.2904C>T (p.Phe968=) n.4172C>T | |
3 | g.47000096C>A | CA352516698 | NBEAL2 | c.3997C>A (p.Leu1333Met) c.3895C>A (p.Leu1299Met) n.334C>A c.1960-100C>A c.469C>A (p.Leu157Met) c.3916C>A (p.Leu1306Met) c.3976C>A (p.Leu1326Met) c.3628C>A (p.Leu1210Met) c.3457C>A (p.Leu1153Met) c.3343C>A (p.Leu1115Met) c.2905C>A (p.Leu969Met) n.4173C>A | |
3 | g.47000096C= | CA1362363017 | NBEAL2 | c.3997C= (p.Leu1333=) c.3895C= (p.Leu1299=) n.334C= c.1960-100C= c.469C= (p.Leu157=) c.3916C= (p.Leu1306=) c.3976C= (p.Leu1326=) c.3628C= (p.Leu1210=) c.3457C= (p.Leu1153=) c.3343C= (p.Leu1115=) c.2905C= (p.Leu969=) n.4173C= | |
3 | g.47000096C>G | CA352516699 | NBEAL2 | c.3997C>G (p.Leu1333Val) c.3895C>G (p.Leu1299Val) n.334C>G c.1960-100C>G c.469C>G (p.Leu157Val) c.3916C>G (p.Leu1306Val) c.3976C>G (p.Leu1326Val) c.3628C>G (p.Leu1210Val) c.3457C>G (p.Leu1153Val) c.3343C>G (p.Leu1115Val) c.2905C>G (p.Leu969Val) n.4173C>G | dbSNP gnomAD v2 gnomAD v4 |
3 | g.47000096C>T | CA433598289 | NBEAL2 | c.3997C>T (p.Leu1333=) c.3895C>T (p.Leu1299=) n.334C>T c.1960-100C>T c.469C>T (p.Leu157=) c.3916C>T (p.Leu1306=) c.3976C>T (p.Leu1326=) c.3628C>T (p.Leu1210=) c.3457C>T (p.Leu1153=) c.3343C>T (p.Leu1115=) c.2905C>T (p.Leu969=) n.4173C>T | |
3 | g.47000097T>A | CA352516700 | NBEAL2 | c.3998T>A (p.Leu1333Gln) c.3896T>A (p.Leu1299Gln) n.335T>A c.1960-99T>A c.470T>A (p.Leu157Gln) c.3917T>A (p.Leu1306Gln) c.3977T>A (p.Leu1326Gln) c.3629T>A (p.Leu1210Gln) c.3458T>A (p.Leu1153Gln) c.3344T>A (p.Leu1115Gln) c.2906T>A (p.Leu969Gln) n.4174T>A | |
3 | g.47000097T>C | CA2361122 | NBEAL2 | c.3998T>C (p.Leu1333Pro) c.3896T>C (p.Leu1299Pro) n.335T>C c.1960-99T>C c.470T>C (p.Leu157Pro) c.3917T>C (p.Leu1306Pro) c.3977T>C (p.Leu1326Pro) c.3629T>C (p.Leu1210Pro) c.3458T>C (p.Leu1153Pro) c.3344T>C (p.Leu1115Pro) c.2906T>C (p.Leu969Pro) n.4174T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.47000097T>G | CA352516701 | NBEAL2 | c.3998T>G (p.Leu1333Arg) c.3896T>G (p.Leu1299Arg) n.335T>G c.1960-99T>G c.470T>G (p.Leu157Arg) c.3917T>G (p.Leu1306Arg) c.3977T>G (p.Leu1326Arg) c.3629T>G (p.Leu1210Arg) c.3458T>G (p.Leu1153Arg) c.3344T>G (p.Leu1115Arg) c.2906T>G (p.Leu969Arg) n.4174T>G | |
3 | g.47000097T= | CA1362363018 | NBEAL2 | c.3998T= (p.Leu1333=) c.3896T= (p.Leu1299=) n.335T= c.1960-99T= c.470T= (p.Leu157=) c.3917T= (p.Leu1306=) c.3977T= (p.Leu1326=) c.3629T= (p.Leu1210=) c.3458T= (p.Leu1153=) c.3344T= (p.Leu1115=) c.2906T= (p.Leu969=) n.4174T= | |
3 | g.47000098G>A | CA433598308 | NBEAL2 | c.3999G>A (p.Leu1333=) c.3897G>A (p.Leu1299=) n.336G>A c.1960-98G>A c.471G>A (p.Leu157=) c.3918G>A (p.Leu1306=) c.3978G>A (p.Leu1326=) c.3630G>A (p.Leu1210=) c.3459G>A (p.Leu1153=) c.3345G>A (p.Leu1115=) c.2907G>A (p.Leu969=) n.4175G>A | |
3 | g.47000098G>C | CA433598306 | NBEAL2 | c.3999G>C (p.Leu1333=) c.3897G>C (p.Leu1299=) n.336G>C c.1960-98G>C c.471G>C (p.Leu157=) c.3918G>C (p.Leu1306=) c.3978G>C (p.Leu1326=) c.3630G>C (p.Leu1210=) c.3459G>C (p.Leu1153=) c.3345G>C (p.Leu1115=) c.2907G>C (p.Leu969=) n.4175G>C | gnomAD v4 |
3 | g.47000098G>T | CA433598307 | NBEAL2 | c.3999G>T (p.Leu1333=) c.3897G>T (p.Leu1299=) n.336G>T c.1960-98G>T c.471G>T (p.Leu157=) c.3918G>T (p.Leu1306=) c.3978G>T (p.Leu1326=) c.3630G>T (p.Leu1210=) c.3459G>T (p.Leu1153=) c.3345G>T (p.Leu1115=) c.2907G>T (p.Leu969=) n.4175G>T | |
3 | g.47000099C>A | CA352516702 | NBEAL2 | c.4000C>A (p.Pro1334Thr) c.3898C>A (p.Pro1300Thr) n.337C>A c.1960-97C>A c.472C>A (p.Pro158Thr) c.3919C>A (p.Pro1307Thr) c.3979C>A (p.Pro1327Thr) c.3631C>A (p.Pro1211Thr) c.3460C>A (p.Pro1154Thr) c.3346C>A (p.Pro1116Thr) c.2908C>A (p.Pro970Thr) n.4176C>A | |
3 | g.47000099C= | CA1362363019 | NBEAL2 | c.4000C= (p.Pro1334=) c.3898C= (p.Pro1300=) n.337C= c.1960-97C= c.472C= (p.Pro158=) c.3919C= (p.Pro1307=) c.3979C= (p.Pro1327=) c.3631C= (p.Pro1211=) c.3460C= (p.Pro1154=) c.3346C= (p.Pro1116=) c.2908C= (p.Pro970=) n.4176C= | |
3 | g.47000099C>G | CA2361124 | NBEAL2 | c.4000C>G (p.Pro1334Ala) c.3898C>G (p.Pro1300Ala) n.337C>G c.1960-97C>G c.472C>G (p.Pro158Ala) c.3919C>G (p.Pro1307Ala) c.3979C>G (p.Pro1327Ala) c.3631C>G (p.Pro1211Ala) c.3460C>G (p.Pro1154Ala) c.3346C>G (p.Pro1116Ala) c.2908C>G (p.Pro970Ala) n.4176C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.47000099C>T | CA2361123 | NBEAL2 | c.4000C>T (p.Pro1334Ser) c.3898C>T (p.Pro1300Ser) n.337C>T c.1960-97C>T c.472C>T (p.Pro158Ser) c.3919C>T (p.Pro1307Ser) c.3979C>T (p.Pro1327Ser) c.3631C>T (p.Pro1211Ser) c.3460C>T (p.Pro1154Ser) c.3346C>T (p.Pro1116Ser) c.2908C>T (p.Pro970Ser) n.4176C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.47000100C>A | CA73817706 | NBEAL2 | c.4001C>A (p.Pro1334His) c.3899C>A (p.Pro1300His) n.338C>A c.1960-96C>A c.473C>A (p.Pro158His) c.3920C>A (p.Pro1307His) c.3980C>A (p.Pro1327His) c.3632C>A (p.Pro1211His) c.3461C>A (p.Pro1154His) c.3347C>A (p.Pro1116His) c.2909C>A (p.Pro970His) n.4177C>A | dbSNP gnomAD v2 gnomAD v4 |
3 | g.47000100C= | CA1362363020 | NBEAL2 | c.4001C= (p.Pro1334=) c.3899C= (p.Pro1300=) n.338C= c.1960-96C= c.473C= (p.Pro158=) c.3920C= (p.Pro1307=) c.3980C= (p.Pro1327=) c.3632C= (p.Pro1211=) c.3461C= (p.Pro1154=) c.3347C= (p.Pro1116=) c.2909C= (p.Pro970=) n.4177C= | |
3 | g.47000100C>G | CA352516703 | NBEAL2 | c.4001C>G (p.Pro1334Arg) c.3899C>G (p.Pro1300Arg) n.338C>G c.1960-96C>G c.473C>G (p.Pro158Arg) c.3920C>G (p.Pro1307Arg) c.3980C>G (p.Pro1327Arg) c.3632C>G (p.Pro1211Arg) c.3461C>G (p.Pro1154Arg) c.3347C>G (p.Pro1116Arg) c.2909C>G (p.Pro970Arg) n.4177C>G | |
3 | g.47000100C>T | CA352516704 | NBEAL2 | c.4001C>T (p.Pro1334Leu) c.3899C>T (p.Pro1300Leu) n.338C>T c.1960-96C>T c.473C>T (p.Pro158Leu) c.3920C>T (p.Pro1307Leu) c.3980C>T (p.Pro1327Leu) c.3632C>T (p.Pro1211Leu) c.3461C>T (p.Pro1154Leu) c.3347C>T (p.Pro1116Leu) c.2909C>T (p.Pro970Leu) n.4177C>T | |
3 | g.47000101C>A | CA433598312 | NBEAL2 | c.4002C>A (p.Pro1334=) c.3900C>A (p.Pro1300=) n.339C>A c.1960-95C>A c.474C>A (p.Pro158=) c.3921C>A (p.Pro1307=) c.3981C>A (p.Pro1327=) c.3633C>A (p.Pro1211=) c.3462C>A (p.Pro1154=) c.3348C>A (p.Pro1116=) c.2910C>A (p.Pro970=) n.4178C>A | |
3 | g.47000101C= | CA1362363021 | NBEAL2 | c.4002C= (p.Pro1334=) c.3900C= (p.Pro1300=) n.339C= c.1960-95C= c.474C= (p.Pro158=) c.3921C= (p.Pro1307=) c.3981C= (p.Pro1327=) c.3633C= (p.Pro1211=) c.3462C= (p.Pro1154=) c.3348C= (p.Pro1116=) c.2910C= (p.Pro970=) n.4178C= | |
3 | g.47000101C>G | CA433598313 | NBEAL2 | c.4002C>G (p.Pro1334=) c.3900C>G (p.Pro1300=) n.339C>G c.1960-95C>G c.474C>G (p.Pro158=) c.3921C>G (p.Pro1307=) c.3981C>G (p.Pro1327=) c.3633C>G (p.Pro1211=) c.3462C>G (p.Pro1154=) c.3348C>G (p.Pro1116=) c.2910C>G (p.Pro970=) n.4178C>G | |
3 | g.47000101C>T | CA433598314 | NBEAL2 | c.4002C>T (p.Pro1334=) c.3900C>T (p.Pro1300=) n.339C>T c.1960-95C>T c.474C>T (p.Pro158=) c.3921C>T (p.Pro1307=) c.3981C>T (p.Pro1327=) c.3633C>T (p.Pro1211=) c.3462C>T (p.Pro1154=) c.3348C>T (p.Pro1116=) c.2910C>T (p.Pro970=) n.4178C>T | dbSNP |
3 | g.47000102T>A | CA352516705 | NBEAL2 | c.4003T>A (p.Ser1335Thr) c.3901T>A (p.Ser1301Thr) n.340T>A c.1960-94T>A c.475T>A (p.Ser159Thr) c.3922T>A (p.Ser1308Thr) c.3982T>A (p.Ser1328Thr) c.3634T>A (p.Ser1212Thr) c.3463T>A (p.Ser1155Thr) c.3349T>A (p.Ser1117Thr) c.2911T>A (p.Ser971Thr) n.4179T>A | |
3 | g.47000102T>C | CA352516706 | NBEAL2 | c.4003T>C (p.Ser1335Pro) c.3901T>C (p.Ser1301Pro) n.340T>C c.1960-94T>C c.475T>C (p.Ser159Pro) c.3922T>C (p.Ser1308Pro) c.3982T>C (p.Ser1328Pro) c.3634T>C (p.Ser1212Pro) c.3463T>C (p.Ser1155Pro) c.3349T>C (p.Ser1117Pro) c.2911T>C (p.Ser971Pro) n.4179T>C | |
3 | g.47000102T>G | CA352516707 | NBEAL2 | c.4003T>G (p.Ser1335Ala) c.3901T>G (p.Ser1301Ala) n.340T>G c.1960-94T>G c.475T>G (p.Ser159Ala) c.3922T>G (p.Ser1308Ala) c.3982T>G (p.Ser1328Ala) c.3634T>G (p.Ser1212Ala) c.3463T>G (p.Ser1155Ala) c.3349T>G (p.Ser1117Ala) c.2911T>G (p.Ser971Ala) n.4179T>G | |
3 | g.47000103C>A | CA352516708 | NBEAL2 | c.4004C>A (p.Ser1335Ter) c.3902C>A (p.Ser1301Ter) n.341C>A c.1960-93C>A c.476C>A (p.Ser159Ter) c.3923C>A (p.Ser1308Ter) c.3983C>A (p.Ser1328Ter) c.3635C>A (p.Ser1212Ter) c.3464C>A (p.Ser1155Ter) c.3350C>A (p.Ser1117Ter) c.2912C>A (p.Ser971Ter) n.4180C>A | |
3 | g.47000103C>G | CA352516710 | NBEAL2 | c.4004C>G (p.Ser1335Ter) c.3902C>G (p.Ser1301Ter) n.341C>G c.1960-93C>G c.476C>G (p.Ser159Ter) c.3923C>G (p.Ser1308Ter) c.3983C>G (p.Ser1328Ter) c.3635C>G (p.Ser1212Ter) c.3464C>G (p.Ser1155Ter) c.3350C>G (p.Ser1117Ter) c.2912C>G (p.Ser971Ter) n.4180C>G | |
3 | g.47000103C>T | CA352516709 | NBEAL2 | c.4004C>T (p.Ser1335Leu) c.3902C>T (p.Ser1301Leu) n.341C>T c.1960-93C>T c.476C>T (p.Ser159Leu) c.3923C>T (p.Ser1308Leu) c.3983C>T (p.Ser1328Leu) c.3635C>T (p.Ser1212Leu) c.3464C>T (p.Ser1155Leu) c.3350C>T (p.Ser1117Leu) c.2912C>T (p.Ser971Leu) n.4180C>T | |
3 | g.47000104A>C | CA433598317 | NBEAL2 | c.4005A>C (p.Ser1335=) c.3903A>C (p.Ser1301=) n.342A>C c.1960-92A>C c.477A>C (p.Ser159=) c.3924A>C (p.Ser1308=) c.3984A>C (p.Ser1328=) c.3636A>C (p.Ser1212=) c.3465A>C (p.Ser1155=) c.3351A>C (p.Ser1117=) c.2913A>C (p.Ser971=) n.4181A>C | |
3 | g.47000104A>G | CA433598318 | NBEAL2 | c.4005A>G (p.Ser1335=) c.3903A>G (p.Ser1301=) n.342A>G c.1960-92A>G c.477A>G (p.Ser159=) c.3924A>G (p.Ser1308=) c.3984A>G (p.Ser1328=) c.3636A>G (p.Ser1212=) c.3465A>G (p.Ser1155=) c.3351A>G (p.Ser1117=) c.2913A>G (p.Ser971=) n.4181A>G | |
3 | g.47000104A>T | CA433598319 | NBEAL2 | c.4005A>T (p.Ser1335=) c.3903A>T (p.Ser1301=) n.342A>T c.1960-92A>T c.477A>T (p.Ser159=) c.3924A>T (p.Ser1308=) c.3984A>T (p.Ser1328=) c.3636A>T (p.Ser1212=) c.3465A>T (p.Ser1155=) c.3351A>T (p.Ser1117=) c.2913A>T (p.Ser971=) n.4181A>T | |
3 | g.47000105G>A | CA352516711 | NBEAL2 | c.4006G>A (p.Glu1336Lys) c.3904G>A (p.Glu1302Lys) n.343G>A c.1960-91G>A c.478G>A (p.Glu160Lys) c.3925G>A (p.Glu1309Lys) c.3985G>A (p.Glu1329Lys) c.3637G>A (p.Glu1213Lys) c.3466G>A (p.Glu1156Lys) c.3352G>A (p.Glu1118Lys) c.2914G>A (p.Glu972Lys) n.4182G>A | |
3 | g.47000105G>C | CA352516712 | NBEAL2 | c.4006G>C (p.Glu1336Gln) c.3904G>C (p.Glu1302Gln) n.343G>C c.1960-91G>C c.478G>C (p.Glu160Gln) c.3925G>C (p.Glu1309Gln) c.3985G>C (p.Glu1329Gln) c.3637G>C (p.Glu1213Gln) c.3466G>C (p.Glu1156Gln) c.3352G>C (p.Glu1118Gln) c.2914G>C (p.Glu972Gln) n.4182G>C | |
3 | g.47000105G>T | CA352516713 | NBEAL2 | c.4006G>T (p.Glu1336Ter) c.3904G>T (p.Glu1302Ter) n.343G>T c.1960-91G>T c.478G>T (p.Glu160Ter) c.3925G>T (p.Glu1309Ter) c.3985G>T (p.Glu1329Ter) c.3637G>T (p.Glu1213Ter) c.3466G>T (p.Glu1156Ter) c.3352G>T (p.Glu1118Ter) c.2914G>T (p.Glu972Ter) n.4182G>T | |
3 | g.47000106A>C | CA352516714 | NBEAL2 | c.4007A>C (p.Glu1336Ala) c.3905A>C (p.Glu1302Ala) n.344A>C c.1960-90A>C c.479A>C (p.Glu160Ala) c.3926A>C (p.Glu1309Ala) c.3986A>C (p.Glu1329Ala) c.3638A>C (p.Glu1213Ala) c.3467A>C (p.Glu1156Ala) c.3353A>C (p.Glu1118Ala) c.2915A>C (p.Glu972Ala) n.4183A>C | |
3 | g.47000106A>G | CA352516715 | NBEAL2 | c.4007A>G (p.Glu1336Gly) c.3905A>G (p.Glu1302Gly) n.344A>G c.1960-90A>G c.479A>G (p.Glu160Gly) c.3926A>G (p.Glu1309Gly) c.3986A>G (p.Glu1329Gly) c.3638A>G (p.Glu1213Gly) c.3467A>G (p.Glu1156Gly) c.3353A>G (p.Glu1118Gly) c.2915A>G (p.Glu972Gly) n.4183A>G | |
3 | g.47000106A>T | CA352516716 | NBEAL2 | c.4007A>T (p.Glu1336Val) c.3905A>T (p.Glu1302Val) n.344A>T c.1960-90A>T c.479A>T (p.Glu160Val) c.3926A>T (p.Glu1309Val) c.3986A>T (p.Glu1329Val) c.3638A>T (p.Glu1213Val) c.3467A>T (p.Glu1156Val) c.3353A>T (p.Glu1118Val) c.2915A>T (p.Glu972Val) n.4183A>T | |
3 | g.47000107G>A | CA433598323 | NBEAL2 | c.4008G>A (p.Glu1336=) c.3906G>A (p.Glu1302=) n.345G>A c.1960-89G>A c.480G>A (p.Glu160=) c.3927G>A (p.Glu1309=) c.3987G>A (p.Glu1329=) c.3639G>A (p.Glu1213=) c.3468G>A (p.Glu1156=) c.3354G>A (p.Glu1118=) c.2916G>A (p.Glu972=) n.4184G>A | gnomAD v4 |
3 | g.47000107G>C | CA352516717 | NBEAL2 | c.4008G>C (p.Glu1336Asp) c.3906G>C (p.Glu1302Asp) n.345G>C c.1960-89G>C c.480G>C (p.Glu160Asp) c.3927G>C (p.Glu1309Asp) c.3987G>C (p.Glu1329Asp) c.3639G>C (p.Glu1213Asp) c.3468G>C (p.Glu1156Asp) c.3354G>C (p.Glu1118Asp) c.2916G>C (p.Glu972Asp) n.4184G>C | |
3 | g.47000107G>T | CA352516718 | NBEAL2 | c.4008G>T (p.Glu1336Asp) c.3906G>T (p.Glu1302Asp) n.345G>T c.1960-89G>T c.480G>T (p.Glu160Asp) c.3927G>T (p.Glu1309Asp) c.3987G>T (p.Glu1329Asp) c.3639G>T (p.Glu1213Asp) c.3468G>T (p.Glu1156Asp) c.3354G>T (p.Glu1118Asp) c.2916G>T (p.Glu972Asp) n.4184G>T | |
3 | g.47000108G>A | CA352516719 | NBEAL2 | c.4009G>A (p.Ala1337Thr) c.3907G>A (p.Ala1303Thr) n.346G>A c.1960-88G>A c.481G>A (p.Ala161Thr) c.3928G>A (p.Ala1310Thr) c.3988G>A (p.Ala1330Thr) c.3640G>A (p.Ala1214Thr) c.3469G>A (p.Ala1157Thr) c.3355G>A (p.Ala1119Thr) c.2917G>A (p.Ala973Thr) n.4185G>A | gnomAD v4 |
3 | g.47000108G>C | CA352516720 | NBEAL2 | c.4009G>C (p.Ala1337Pro) c.3907G>C (p.Ala1303Pro) n.346G>C c.1960-88G>C c.481G>C (p.Ala161Pro) c.3928G>C (p.Ala1310Pro) c.3988G>C (p.Ala1330Pro) c.3640G>C (p.Ala1214Pro) c.3469G>C (p.Ala1157Pro) c.3355G>C (p.Ala1119Pro) c.2917G>C (p.Ala973Pro) n.4185G>C | |
3 | g.47000108G= | CA1362363022 | NBEAL2 | c.4009G= (p.Ala1337=) c.3907G= (p.Ala1303=) n.346G= c.1960-88G= c.481G= (p.Ala161=) c.3928G= (p.Ala1310=) c.3988G= (p.Ala1330=) c.3640G= (p.Ala1214=) c.3469G= (p.Ala1157=) c.3355G= (p.Ala1119=) c.2917G= (p.Ala973=) n.4185G= | |
3 | g.47000108G>T | CA352516721 | NBEAL2 | c.4009G>T (p.Ala1337Ser) c.3907G>T (p.Ala1303Ser) n.346G>T c.1960-88G>T c.481G>T (p.Ala161Ser) c.3928G>T (p.Ala1310Ser) c.3988G>T (p.Ala1330Ser) c.3640G>T (p.Ala1214Ser) c.3469G>T (p.Ala1157Ser) c.3355G>T (p.Ala1119Ser) c.2917G>T (p.Ala973Ser) n.4185G>T | dbSNP gnomAD v2 gnomAD v4 |
3 | g.47000109C>A | CA352516724 | NBEAL2 | c.4010C>A (p.Ala1337Asp) c.3908C>A (p.Ala1303Asp) n.347C>A c.1960-87C>A c.482C>A (p.Ala161Asp) c.3929C>A (p.Ala1310Asp) c.3989C>A (p.Ala1330Asp) c.3641C>A (p.Ala1214Asp) c.3470C>A (p.Ala1157Asp) c.3356C>A (p.Ala1119Asp) c.2918C>A (p.Ala973Asp) n.4186C>A | |
3 | g.47000109C>G | CA352516723 | NBEAL2 | c.4010C>G (p.Ala1337Gly) c.3908C>G (p.Ala1303Gly) n.347C>G c.1960-87C>G c.482C>G (p.Ala161Gly) c.3929C>G (p.Ala1310Gly) c.3989C>G (p.Ala1330Gly) c.3641C>G (p.Ala1214Gly) c.3470C>G (p.Ala1157Gly) c.3356C>G (p.Ala1119Gly) c.2918C>G (p.Ala973Gly) n.4186C>G | |
3 | g.47000109C>T | CA352516722 | NBEAL2 | c.4010C>T (p.Ala1337Val) c.3908C>T (p.Ala1303Val) n.347C>T c.1960-87C>T c.482C>T (p.Ala161Val) c.3929C>T (p.Ala1310Val) c.3989C>T (p.Ala1330Val) c.3641C>T (p.Ala1214Val) c.3470C>T (p.Ala1157Val) c.3356C>T (p.Ala1119Val) c.2918C>T (p.Ala973Val) n.4186C>T | |
3 | g.47000113dup | CA2832544514 | NBEAL2 | c.4014dup (p.Cys1339LeufsTer3) c.3912dup (p.Cys1305LeufsTer3) n.351dup c.1960-83dup c.486dup (p.Cys163LeufsTer3) c.3933dup (p.Cys1312LeufsTer3) c.3993dup (p.Cys1332LeufsTer3) c.3645dup (p.Cys1216LeufsTer3) c.3474dup (p.Cys1159LeufsTer3) c.3360dup (p.Cys1121LeufsTer3) c.2922dup (p.Cys975LeufsTer3) n.4190dup | |
3 | g.47000110C>A | CA433598327 | NBEAL2 | c.4011C>A (p.Ala1337=) c.3909C>A (p.Ala1303=) n.348C>A c.1960-86C>A c.483C>A (p.Ala161=) c.3930C>A (p.Ala1310=) c.3990C>A (p.Ala1330=) c.3642C>A (p.Ala1214=) c.3471C>A (p.Ala1157=) c.3357C>A (p.Ala1119=) c.2919C>A (p.Ala973=) n.4187C>A | |
3 | g.47000110C>G | CA433598328 | NBEAL2 | c.4011C>G (p.Ala1337=) c.3909C>G (p.Ala1303=) n.348C>G c.1960-86C>G c.483C>G (p.Ala161=) c.3930C>G (p.Ala1310=) c.3990C>G (p.Ala1330=) c.3642C>G (p.Ala1214=) c.3471C>G (p.Ala1157=) c.3357C>G (p.Ala1119=) c.2919C>G (p.Ala973=) n.4187C>G | |
3 | g.47000110C>T | CA433598329 | NBEAL2 | c.4011C>T (p.Ala1337=) c.3909C>T (p.Ala1303=) n.348C>T c.1960-86C>T c.483C>T (p.Ala161=) c.3930C>T (p.Ala1310=) c.3990C>T (p.Ala1330=) c.3642C>T (p.Ala1214=) c.3471C>T (p.Ala1157=) c.3357C>T (p.Ala1119=) c.2919C>T (p.Ala973=) n.4187C>T | |
3 | g.47000111C>A | CA352516726 | NBEAL2 | c.4012C>A (p.Pro1338Thr) c.3910C>A (p.Pro1304Thr) n.349C>A c.1960-85C>A c.484C>A (p.Pro162Thr) c.3931C>A (p.Pro1311Thr) c.3991C>A (p.Pro1331Thr) c.3643C>A (p.Pro1215Thr) c.3472C>A (p.Pro1158Thr) c.3358C>A (p.Pro1120Thr) c.2920C>A (p.Pro974Thr) n.4188C>A | |
3 | g.47000111C= | CA1362363023 | NBEAL2 | c.4012C= (p.Pro1338=) c.3910C= (p.Pro1304=) n.349C= c.1960-85C= c.484C= (p.Pro162=) c.3931C= (p.Pro1311=) c.3991C= (p.Pro1331=) c.3643C= (p.Pro1215=) c.3472C= (p.Pro1158=) c.3358C= (p.Pro1120=) c.2920C= (p.Pro974=) n.4188C= | |
3 | g.47000111C>G | CA352516725 | NBEAL2 | c.4012C>G (p.Pro1338Ala) c.3910C>G (p.Pro1304Ala) n.349C>G c.1960-85C>G c.484C>G (p.Pro162Ala) c.3931C>G (p.Pro1311Ala) c.3991C>G (p.Pro1331Ala) c.3643C>G (p.Pro1215Ala) c.3472C>G (p.Pro1158Ala) c.3358C>G (p.Pro1120Ala) c.2920C>G (p.Pro974Ala) n.4188C>G | |
3 | g.47000111C>T | CA352516727 | NBEAL2 | c.4012C>T (p.Pro1338Ser) c.3910C>T (p.Pro1304Ser) n.349C>T c.1960-85C>T c.484C>T (p.Pro162Ser) c.3931C>T (p.Pro1311Ser) c.3991C>T (p.Pro1331Ser) c.3643C>T (p.Pro1215Ser) c.3472C>T (p.Pro1158Ser) c.3358C>T (p.Pro1120Ser) c.2920C>T (p.Pro974Ser) n.4188C>T | dbSNP gnomAD v2 gnomAD v4 |
3 | g.47000112C>A | CA2361126 | NBEAL2 | c.4013C>A (p.Pro1338His) c.3911C>A (p.Pro1304His) n.350C>A c.1960-84C>A c.485C>A (p.Pro162His) c.3932C>A (p.Pro1311His) c.3992C>A (p.Pro1331His) c.3644C>A (p.Pro1215His) c.3473C>A (p.Pro1158His) c.3359C>A (p.Pro1120His) c.2921C>A (p.Pro974His) n.4189C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.47000112C= | CA1362363024 | NBEAL2 | c.4013C= (p.Pro1338=) c.3911C= (p.Pro1304=) n.350C= c.1960-84C= c.485C= (p.Pro162=) c.3932C= (p.Pro1311=) c.3992C= (p.Pro1331=) c.3644C= (p.Pro1215=) c.3473C= (p.Pro1158=) c.3359C= (p.Pro1120=) c.2921C= (p.Pro974=) n.4189C= | |
3 | g.47000112C>G | CA2361125 | NBEAL2 | c.4013C>G (p.Pro1338Arg) c.3911C>G (p.Pro1304Arg) n.350C>G c.1960-84C>G c.485C>G (p.Pro162Arg) c.3932C>G (p.Pro1311Arg) c.3992C>G (p.Pro1331Arg) c.3644C>G (p.Pro1215Arg) c.3473C>G (p.Pro1158Arg) c.3359C>G (p.Pro1120Arg) c.2921C>G (p.Pro974Arg) n.4189C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.47000112C>T | CA352516728 | NBEAL2 | c.4013C>T (p.Pro1338Leu) c.3911C>T (p.Pro1304Leu) n.350C>T c.1960-84C>T c.485C>T (p.Pro162Leu) c.3932C>T (p.Pro1311Leu) c.3992C>T (p.Pro1331Leu) c.3644C>T (p.Pro1215Leu) c.3473C>T (p.Pro1158Leu) c.3359C>T (p.Pro1120Leu) c.2921C>T (p.Pro974Leu) n.4189C>T | |
3 | g.47000113C>A | CA433598330 | NBEAL2 | c.4014C>A (p.Pro1338=) c.3912C>A (p.Pro1304=) n.351C>A c.1960-83C>A c.486C>A (p.Pro162=) c.3933C>A (p.Pro1311=) c.3993C>A (p.Pro1331=) c.3645C>A (p.Pro1215=) c.3474C>A (p.Pro1158=) c.3360C>A (p.Pro1120=) c.2922C>A (p.Pro974=) n.4190C>A | |
3 | g.47000113C>G | CA433598331 | NBEAL2 | c.4014C>G (p.Pro1338=) c.3912C>G (p.Pro1304=) n.351C>G c.1960-83C>G c.486C>G (p.Pro162=) c.3933C>G (p.Pro1311=) c.3993C>G (p.Pro1331=) c.3645C>G (p.Pro1215=) c.3474C>G (p.Pro1158=) c.3360C>G (p.Pro1120=) c.2922C>G (p.Pro974=) n.4190C>G | |
3 | g.47000113C>T | CA433598333 | NBEAL2 | c.4014C>T (p.Pro1338=) c.3912C>T (p.Pro1304=) n.351C>T c.1960-83C>T c.486C>T (p.Pro162=) c.3933C>T (p.Pro1311=) c.3993C>T (p.Pro1331=) c.3645C>T (p.Pro1215=) c.3474C>T (p.Pro1158=) c.3360C>T (p.Pro1120=) c.2922C>T (p.Pro974=) n.4190C>T | |
3 | g.47000114T>A | CA352516729 | NBEAL2 | c.4015T>A (p.Cys1339Ser) c.3913T>A (p.Cys1305Ser) n.352T>A c.1960-82T>A c.487T>A (p.Cys163Ser) c.3934T>A (p.Cys1312Ser) c.3994T>A (p.Cys1332Ser) c.3646T>A (p.Cys1216Ser) c.3475T>A (p.Cys1159Ser) c.3361T>A (p.Cys1121Ser) c.2923T>A (p.Cys975Ser) n.4191T>A | gnomAD v4 |
3 | g.47000114T>C | CA352516730 | NBEAL2 | c.4015T>C (p.Cys1339Arg) c.3913T>C (p.Cys1305Arg) n.352T>C c.1960-82T>C c.487T>C (p.Cys163Arg) c.3934T>C (p.Cys1312Arg) c.3994T>C (p.Cys1332Arg) c.3646T>C (p.Cys1216Arg) c.3475T>C (p.Cys1159Arg) c.3361T>C (p.Cys1121Arg) c.2923T>C (p.Cys975Arg) n.4191T>C | dbSNP gnomAD v3 gnomAD v4 |
3 | g.47000114T>G | CA352516731 | NBEAL2 | c.4015T>G (p.Cys1339Gly) c.3913T>G (p.Cys1305Gly) n.352T>G c.1960-82T>G c.487T>G (p.Cys163Gly) c.3934T>G (p.Cys1312Gly) c.3994T>G (p.Cys1332Gly) c.3646T>G (p.Cys1216Gly) c.3475T>G (p.Cys1159Gly) c.3361T>G (p.Cys1121Gly) c.2923T>G (p.Cys975Gly) n.4191T>G | |
3 | g.47000114T= | CA1362363025 | NBEAL2 | c.4015T= (p.Cys1339=) c.3913T= (p.Cys1305=) n.352T= c.1960-82T= c.487T= (p.Cys163=) c.3934T= (p.Cys1312=) c.3994T= (p.Cys1332=) c.3646T= (p.Cys1216=) c.3475T= (p.Cys1159=) c.3361T= (p.Cys1121=) c.2923T= (p.Cys975=) n.4191T= | |
3 | g.47000115G>A | CA352516732 | NBEAL2 | c.4016G>A (p.Cys1339Tyr) c.3914G>A (p.Cys1305Tyr) n.353G>A c.1960-81G>A c.488G>A (p.Cys163Tyr) c.3935G>A (p.Cys1312Tyr) c.3995G>A (p.Cys1332Tyr) c.3647G>A (p.Cys1216Tyr) c.3476G>A (p.Cys1159Tyr) c.3362G>A (p.Cys1121Tyr) c.2924G>A (p.Cys975Tyr) n.4192G>A | |
3 | g.47000115G>C | CA352516733 | NBEAL2 | c.4016G>C (p.Cys1339Ser) c.3914G>C (p.Cys1305Ser) n.353G>C c.1960-81G>C c.488G>C (p.Cys163Ser) c.3935G>C (p.Cys1312Ser) c.3995G>C (p.Cys1332Ser) c.3647G>C (p.Cys1216Ser) c.3476G>C (p.Cys1159Ser) c.3362G>C (p.Cys1121Ser) c.2924G>C (p.Cys975Ser) n.4192G>C | |
3 | g.47000115G>T | CA352516734 | NBEAL2 | c.4016G>T (p.Cys1339Phe) c.3914G>T (p.Cys1305Phe) n.353G>T c.1960-81G>T c.488G>T (p.Cys163Phe) c.3935G>T (p.Cys1312Phe) c.3995G>T (p.Cys1332Phe) c.3647G>T (p.Cys1216Phe) c.3476G>T (p.Cys1159Phe) c.3362G>T (p.Cys1121Phe) c.2924G>T (p.Cys975Phe) n.4192G>T | |
3 | g.47000116C>A | CA352516735 | NBEAL2 | c.4017C>A (p.Cys1339Ter) c.3915C>A (p.Cys1305Ter) n.354C>A c.1960-80C>A c.489C>A (p.Cys163Ter) c.3936C>A (p.Cys1312Ter) c.3996C>A (p.Cys1332Ter) c.3648C>A (p.Cys1216Ter) c.3477C>A (p.Cys1159Ter) c.3363C>A (p.Cys1121Ter) c.2925C>A (p.Cys975Ter) n.4193C>A | |
3 | g.47000116C>G | CA352516736 | NBEAL2 | c.4017C>G (p.Cys1339Trp) c.3915C>G (p.Cys1305Trp) n.354C>G c.1960-80C>G c.489C>G (p.Cys163Trp) c.3936C>G (p.Cys1312Trp) c.3996C>G (p.Cys1332Trp) c.3648C>G (p.Cys1216Trp) c.3477C>G (p.Cys1159Trp) c.3363C>G (p.Cys1121Trp) c.2925C>G (p.Cys975Trp) n.4193C>G | |
3 | g.47000116C>T | CA433598336 | NBEAL2 | c.4017C>T (p.Cys1339=) c.3915C>T (p.Cys1305=) n.354C>T c.1960-80C>T c.489C>T (p.Cys163=) c.3936C>T (p.Cys1312=) c.3996C>T (p.Cys1332=) c.3648C>T (p.Cys1216=) c.3477C>T (p.Cys1159=) c.3363C>T (p.Cys1121=) c.2925C>T (p.Cys975=) n.4193C>T | |
3 | g.47000118dup | CA2838463779 | NBEAL2 | c.4019dup (p.Asp1341Ter) c.3917dup (p.Asp1307Ter) n.356dup c.1960-78dup c.491dup (p.Asp165Ter) c.3938dup (p.Asp1314Ter) c.3998dup (p.Asp1334Ter) c.3650dup (p.Asp1218Ter) c.3479dup (p.Asp1161Ter) c.3365dup (p.Asp1123Ter) c.2927dup (p.Asp977Ter) n.4195dup | |
3 | g.47000117C>A | CA352516737 | NBEAL2 | c.4018C>A (p.Pro1340Thr) c.3916C>A (p.Pro1306Thr) n.355C>A c.1960-79C>A c.490C>A (p.Pro164Thr) c.3937C>A (p.Pro1313Thr) c.3997C>A (p.Pro1333Thr) c.3649C>A (p.Pro1217Thr) c.3478C>A (p.Pro1160Thr) c.3364C>A (p.Pro1122Thr) c.2926C>A (p.Pro976Thr) n.4194C>A | |
3 | g.47000117C= | CA1362363026 | NBEAL2 | c.4018C= (p.Pro1340=) c.3916C= (p.Pro1306=) n.355C= c.1960-79C= c.490C= (p.Pro164=) c.3937C= (p.Pro1313=) c.3997C= (p.Pro1333=) c.3649C= (p.Pro1217=) c.3478C= (p.Pro1160=) c.3364C= (p.Pro1122=) c.2926C= (p.Pro976=) n.4194C= | |
3 | g.47000117C>G | CA73817724 | NBEAL2 | c.4018C>G (p.Pro1340Ala) c.3916C>G (p.Pro1306Ala) n.355C>G c.1960-79C>G c.490C>G (p.Pro164Ala) c.3937C>G (p.Pro1313Ala) c.3997C>G (p.Pro1333Ala) c.3649C>G (p.Pro1217Ala) c.3478C>G (p.Pro1160Ala) c.3364C>G (p.Pro1122Ala) c.2926C>G (p.Pro976Ala) n.4194C>G | dbSNP gnomAD v4 |
3 | g.47000117C>T | CA352516738 | NBEAL2 | c.4018C>T (p.Pro1340Ser) c.3916C>T (p.Pro1306Ser) n.355C>T c.1960-79C>T c.490C>T (p.Pro164Ser) c.3937C>T (p.Pro1313Ser) c.3997C>T (p.Pro1333Ser) c.3649C>T (p.Pro1217Ser) c.3478C>T (p.Pro1160Ser) c.3364C>T (p.Pro1122Ser) c.2926C>T (p.Pro976Ser) n.4194C>T | |
3 | g.47000118C>A | CA352516741 | NBEAL2 | c.4019C>A (p.Pro1340His) c.3917C>A (p.Pro1306His) n.356C>A c.1960-78C>A c.491C>A (p.Pro164His) c.3938C>A (p.Pro1313His) c.3998C>A (p.Pro1333His) c.3650C>A (p.Pro1217His) c.3479C>A (p.Pro1160His) c.3365C>A (p.Pro1122His) c.2927C>A (p.Pro976His) n.4195C>A | |
3 | g.47000118C= | CA1362363027 | NBEAL2 | c.4019C= (p.Pro1340=) c.3917C= (p.Pro1306=) n.356C= c.1960-78C= c.491C= (p.Pro164=) c.3938C= (p.Pro1313=) c.3998C= (p.Pro1333=) c.3650C= (p.Pro1217=) c.3479C= (p.Pro1160=) c.3365C= (p.Pro1122=) c.2927C= (p.Pro976=) n.4195C= | |
3 | g.47000118C>G | CA352516740 | NBEAL2 | c.4019C>G (p.Pro1340Arg) c.3917C>G (p.Pro1306Arg) n.356C>G c.1960-78C>G c.491C>G (p.Pro164Arg) c.3938C>G (p.Pro1313Arg) c.3998C>G (p.Pro1333Arg) c.3650C>G (p.Pro1217Arg) c.3479C>G (p.Pro1160Arg) c.3365C>G (p.Pro1122Arg) c.2927C>G (p.Pro976Arg) n.4195C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.47000118C>T | CA352516739 | NBEAL2 | c.4019C>T (p.Pro1340Leu) c.3917C>T (p.Pro1306Leu) n.356C>T c.1960-78C>T c.491C>T (p.Pro164Leu) c.3938C>T (p.Pro1313Leu) c.3998C>T (p.Pro1333Leu) c.3650C>T (p.Pro1217Leu) c.3479C>T (p.Pro1160Leu) c.3365C>T (p.Pro1122Leu) c.2927C>T (p.Pro976Leu) n.4195C>T | |
3 | g.47000119T>A | CA433598339 | NBEAL2 | c.4020T>A (p.Pro1340=) c.3918T>A (p.Pro1306=) n.357T>A c.1960-77T>A c.492T>A (p.Pro164=) c.3939T>A (p.Pro1313=) c.3999T>A (p.Pro1333=) c.3651T>A (p.Pro1217=) c.3480T>A (p.Pro1160=) c.3366T>A (p.Pro1122=) c.2928T>A (p.Pro976=) n.4196T>A | |
3 | g.47000119T>C | CA433598343 | NBEAL2 | c.4020T>C (p.Pro1340=) c.3918T>C (p.Pro1306=) n.357T>C c.1960-77T>C c.492T>C (p.Pro164=) c.3939T>C (p.Pro1313=) c.3999T>C (p.Pro1333=) c.3651T>C (p.Pro1217=) c.3480T>C (p.Pro1160=) c.3366T>C (p.Pro1122=) c.2928T>C (p.Pro976=) n.4196T>C | |
3 | g.47000119T>G | CA433598341 | NBEAL2 | c.4020T>G (p.Pro1340=) c.3918T>G (p.Pro1306=) n.357T>G c.1960-77T>G c.492T>G (p.Pro164=) c.3939T>G (p.Pro1313=) c.3999T>G (p.Pro1333=) c.3651T>G (p.Pro1217=) c.3480T>G (p.Pro1160=) c.3366T>G (p.Pro1122=) c.2928T>G (p.Pro976=) n.4196T>G | dbSNP gnomAD v2 gnomAD v4 |
3 | g.47000119T= | CA1362363028 | NBEAL2 | c.4020T= (p.Pro1340=) c.3918T= (p.Pro1306=) n.357T= c.1960-77T= c.492T= (p.Pro164=) c.3939T= (p.Pro1313=) c.3999T= (p.Pro1333=) c.3651T= (p.Pro1217=) c.3480T= (p.Pro1160=) c.3366T= (p.Pro1122=) c.2928T= (p.Pro976=) n.4196T= | |
3 | g.47000120G>A | CA352516742 | NBEAL2 | c.4021G>A (p.Asp1341Asn) c.3919G>A (p.Asp1307Asn) n.358G>A c.1960-76G>A c.493G>A (p.Asp165Asn) c.3940G>A (p.Asp1314Asn) c.4000G>A (p.Asp1334Asn) c.3652G>A (p.Asp1218Asn) c.3481G>A (p.Asp1161Asn) c.3367G>A (p.Asp1123Asn) c.2929G>A (p.Asp977Asn) n.4197G>A | |
3 | g.47000120G>C | CA352516743 | NBEAL2 | c.4021G>C (p.Asp1341His) c.3919G>C (p.Asp1307His) n.358G>C c.1960-76G>C c.493G>C (p.Asp165His) c.3940G>C (p.Asp1314His) c.4000G>C (p.Asp1334His) c.3652G>C (p.Asp1218His) c.3481G>C (p.Asp1161His) c.3367G>C (p.Asp1123His) c.2929G>C (p.Asp977His) n.4197G>C | |
3 | g.47000120G>T | CA352516744 | NBEAL2 | c.4021G>T (p.Asp1341Tyr) c.3919G>T (p.Asp1307Tyr) n.358G>T c.1960-76G>T c.493G>T (p.Asp165Tyr) c.3940G>T (p.Asp1314Tyr) c.4000G>T (p.Asp1334Tyr) c.3652G>T (p.Asp1218Tyr) c.3481G>T (p.Asp1161Tyr) c.3367G>T (p.Asp1123Tyr) c.2929G>T (p.Asp977Tyr) n.4197G>T | |
3 | g.47000121A= | CA1362363029 | NBEAL2 | c.4022A= (p.Asp1341=) c.3920A= (p.Asp1307=) n.359A= c.1960-75A= c.494A= (p.Asp165=) c.3941A= (p.Asp1314=) c.4001A= (p.Asp1334=) c.3653A= (p.Asp1218=) c.3482A= (p.Asp1161=) c.3368A= (p.Asp1123=) c.2930A= (p.Asp977=) n.4198A= | |
3 | g.47000121A>C | CA352516745 | NBEAL2 | c.4022A>C (p.Asp1341Ala) c.3920A>C (p.Asp1307Ala) n.359A>C c.1960-75A>C c.494A>C (p.Asp165Ala) c.3941A>C (p.Asp1314Ala) c.4001A>C (p.Asp1334Ala) c.3653A>C (p.Asp1218Ala) c.3482A>C (p.Asp1161Ala) c.3368A>C (p.Asp1123Ala) c.2930A>C (p.Asp977Ala) n.4198A>C | |
3 | g.47000121A>G | CA352516746 | NBEAL2 | c.4022A>G (p.Asp1341Gly) c.3920A>G (p.Asp1307Gly) n.359A>G c.1960-75A>G c.494A>G (p.Asp165Gly) c.3941A>G (p.Asp1314Gly) c.4001A>G (p.Asp1334Gly) c.3653A>G (p.Asp1218Gly) c.3482A>G (p.Asp1161Gly) c.3368A>G (p.Asp1123Gly) c.2930A>G (p.Asp977Gly) n.4198A>G | dbSNP gnomAD v2 |
3 | g.47000121A>T | CA352516747 | NBEAL2 | c.4022A>T (p.Asp1341Val) c.3920A>T (p.Asp1307Val) n.359A>T c.1960-75A>T c.494A>T (p.Asp165Val) c.3941A>T (p.Asp1314Val) c.4001A>T (p.Asp1334Val) c.3653A>T (p.Asp1218Val) c.3482A>T (p.Asp1161Val) c.3368A>T (p.Asp1123Val) c.2930A>T (p.Asp977Val) n.4198A>T | |
3 | g.47000122C>A | CA352516748 | NBEAL2 | c.4023C>A (p.Asp1341Glu) c.3921C>A (p.Asp1307Glu) n.360C>A c.1960-74C>A c.495C>A (p.Asp165Glu) c.3942C>A (p.Asp1314Glu) c.4002C>A (p.Asp1334Glu) c.3654C>A (p.Asp1218Glu) c.3483C>A (p.Asp1161Glu) c.3369C>A (p.Asp1123Glu) c.2931C>A (p.Asp977Glu) n.4199C>A | |
3 | g.47000122C>G | CA352516749 | NBEAL2 | c.4023C>G (p.Asp1341Glu) c.3921C>G (p.Asp1307Glu) n.360C>G c.1960-74C>G c.495C>G (p.Asp165Glu) c.3942C>G (p.Asp1314Glu) c.4002C>G (p.Asp1334Glu) c.3654C>G (p.Asp1218Glu) c.3483C>G (p.Asp1161Glu) c.3369C>G (p.Asp1123Glu) c.2931C>G (p.Asp977Glu) n.4199C>G | |
3 | g.47000122C>T | CA433598346 | NBEAL2 | c.4023C>T (p.Asp1341=) c.3921C>T (p.Asp1307=) n.360C>T c.1960-74C>T c.495C>T (p.Asp165=) c.3942C>T (p.Asp1314=) c.4002C>T (p.Asp1334=) c.3654C>T (p.Asp1218=) c.3483C>T (p.Asp1161=) c.3369C>T (p.Asp1123=) c.2931C>T (p.Asp977=) n.4199C>T | gnomAD v4 |
3 | g.47000123C>A | CA352516750 | NBEAL2 | c.4024C>A (p.Pro1342Thr) c.3922C>A (p.Pro1308Thr) n.361C>A c.1960-73C>A c.496C>A (p.Pro166Thr) c.3943C>A (p.Pro1315Thr) c.4003C>A (p.Pro1335Thr) c.3655C>A (p.Pro1219Thr) c.3484C>A (p.Pro1162Thr) c.3370C>A (p.Pro1124Thr) c.2932C>A (p.Pro978Thr) n.4200C>A | |
3 | g.47000123C>G | CA352516751 | NBEAL2 | c.4024C>G (p.Pro1342Ala) c.3922C>G (p.Pro1308Ala) n.361C>G c.1960-73C>G c.496C>G (p.Pro166Ala) c.3943C>G (p.Pro1315Ala) c.4003C>G (p.Pro1335Ala) c.3655C>G (p.Pro1219Ala) c.3484C>G (p.Pro1162Ala) c.3370C>G (p.Pro1124Ala) c.2932C>G (p.Pro978Ala) n.4200C>G | |
3 | g.47000123C>T | CA352516752 | NBEAL2 | c.4024C>T (p.Pro1342Ser) c.3922C>T (p.Pro1308Ser) n.361C>T c.1960-73C>T c.496C>T (p.Pro166Ser) c.3943C>T (p.Pro1315Ser) c.4003C>T (p.Pro1335Ser) c.3655C>T (p.Pro1219Ser) c.3484C>T (p.Pro1162Ser) c.3370C>T (p.Pro1124Ser) c.2932C>T (p.Pro978Ser) n.4200C>T | dbSNP |
3 | g.47000124C>A | CA352516755 | NBEAL2 | c.4025C>A (p.Pro1342His) c.3923C>A (p.Pro1308His) n.362C>A c.1960-72C>A c.497C>A (p.Pro166His) c.3944C>A (p.Pro1315His) c.4004C>A (p.Pro1335His) c.3656C>A (p.Pro1219His) c.3485C>A (p.Pro1162His) c.3371C>A (p.Pro1124His) c.2933C>A (p.Pro978His) n.4201C>A | |
3 | g.47000124C>G | CA352516754 | NBEAL2 | c.4025C>G (p.Pro1342Arg) c.3923C>G (p.Pro1308Arg) n.362C>G c.1960-72C>G c.497C>G (p.Pro166Arg) c.3944C>G (p.Pro1315Arg) c.4004C>G (p.Pro1335Arg) c.3656C>G (p.Pro1219Arg) c.3485C>G (p.Pro1162Arg) c.3371C>G (p.Pro1124Arg) c.2933C>G (p.Pro978Arg) n.4201C>G | |
3 | g.47000124C>T | CA352516753 | NBEAL2 | c.4025C>T (p.Pro1342Leu) c.3923C>T (p.Pro1308Leu) n.362C>T c.1960-72C>T c.497C>T (p.Pro166Leu) c.3944C>T (p.Pro1315Leu) c.4004C>T (p.Pro1335Leu) c.3656C>T (p.Pro1219Leu) c.3485C>T (p.Pro1162Leu) c.3371C>T (p.Pro1124Leu) c.2933C>T (p.Pro978Leu) n.4201C>T | |
3 | g.47000125T>A | CA433598347 | NBEAL2 | c.4026T>A (p.Pro1342=) c.3924T>A (p.Pro1308=) n.363T>A c.1960-71T>A c.498T>A (p.Pro166=) c.3945T>A (p.Pro1315=) c.4005T>A (p.Pro1335=) c.3657T>A (p.Pro1219=) c.3486T>A (p.Pro1162=) c.3372T>A (p.Pro1124=) c.2934T>A (p.Pro978=) n.4202T>A | |
3 | g.47000125T>C | CA2361127 | NBEAL2 | c.4026T>C (p.Pro1342=) c.3924T>C (p.Pro1308=) n.363T>C c.1960-71T>C c.498T>C (p.Pro166=) c.3945T>C (p.Pro1315=) c.4005T>C (p.Pro1335=) c.3657T>C (p.Pro1219=) c.3486T>C (p.Pro1162=) c.3372T>C (p.Pro1124=) c.2934T>C (p.Pro978=) n.4202T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.47000125T>G | CA433598349 | NBEAL2 | c.4026T>G (p.Pro1342=) c.3924T>G (p.Pro1308=) n.363T>G c.1960-71T>G c.498T>G (p.Pro166=) c.3945T>G (p.Pro1315=) c.4005T>G (p.Pro1335=) c.3657T>G (p.Pro1219=) c.3486T>G (p.Pro1162=) c.3372T>G (p.Pro1124=) c.2934T>G (p.Pro978=) n.4202T>G | |
3 | g.47000125T= | CA1362363030 | NBEAL2 | c.4026T= (p.Pro1342=) c.3924T= (p.Pro1308=) n.363T= c.1960-71T= c.498T= (p.Pro166=) c.3945T= (p.Pro1315=) c.4005T= (p.Pro1335=) c.3657T= (p.Pro1219=) c.3486T= (p.Pro1162=) c.3372T= (p.Pro1124=) c.2934T= (p.Pro978=) n.4202T= | |
3 | g.47000126G>A | CA352516756 | NBEAL2 | c.4027G>A (p.Asp1343Asn) c.3925G>A (p.Asp1309Asn) n.364G>A c.1960-70G>A c.499G>A (p.Asp167Asn) c.3946G>A (p.Asp1316Asn) c.4006G>A (p.Asp1336Asn) c.3658G>A (p.Asp1220Asn) c.3487G>A (p.Asp1163Asn) c.3373G>A (p.Asp1125Asn) c.2935G>A (p.Asp979Asn) n.4203G>A | dbSNP gnomAD v4 |
3 | g.47000126G>C | CA352516757 | NBEAL2 | c.4027G>C (p.Asp1343His) c.3925G>C (p.Asp1309His) n.364G>C c.1960-70G>C c.499G>C (p.Asp167His) c.3946G>C (p.Asp1316His) c.4006G>C (p.Asp1336His) c.3658G>C (p.Asp1220His) c.3487G>C (p.Asp1163His) c.3373G>C (p.Asp1125His) c.2935G>C (p.Asp979His) n.4203G>C | |
3 | g.47000126G= | CA1362363031 | NBEAL2 | c.4027G= (p.Asp1343=) c.3925G= (p.Asp1309=) n.364G= c.1960-70G= c.499G= (p.Asp167=) c.3946G= (p.Asp1316=) c.4006G= (p.Asp1336=) c.3658G= (p.Asp1220=) c.3487G= (p.Asp1163=) c.3373G= (p.Asp1125=) c.2935G= (p.Asp979=) n.4203G= | |
3 | g.47000126G>T | CA352516758 | NBEAL2 | c.4027G>T (p.Asp1343Tyr) c.3925G>T (p.Asp1309Tyr) n.364G>T c.1960-70G>T c.499G>T (p.Asp167Tyr) c.3946G>T (p.Asp1316Tyr) c.4006G>T (p.Asp1336Tyr) c.3658G>T (p.Asp1220Tyr) c.3487G>T (p.Asp1163Tyr) c.3373G>T (p.Asp1125Tyr) c.2935G>T (p.Asp979Tyr) n.4203G>T | |
3 | g.47000127A>C | CA352516759 | NBEAL2 | c.4028A>C (p.Asp1343Ala) c.3926A>C (p.Asp1309Ala) n.365A>C c.1960-69A>C c.500A>C (p.Asp167Ala) c.3947A>C (p.Asp1316Ala) c.4007A>C (p.Asp1336Ala) c.3659A>C (p.Asp1220Ala) c.3488A>C (p.Asp1163Ala) c.3374A>C (p.Asp1125Ala) c.2936A>C (p.Asp979Ala) n.4204A>C | |
3 | g.47000127A>G | CA352516760 | NBEAL2 | c.4028A>G (p.Asp1343Gly) c.3926A>G (p.Asp1309Gly) n.365A>G c.1960-69A>G c.500A>G (p.Asp167Gly) c.3947A>G (p.Asp1316Gly) c.4007A>G (p.Asp1336Gly) c.3659A>G (p.Asp1220Gly) c.3488A>G (p.Asp1163Gly) c.3374A>G (p.Asp1125Gly) c.2936A>G (p.Asp979Gly) n.4204A>G | |
3 | g.47000127A>T | CA352516761 | NBEAL2 | c.4028A>T (p.Asp1343Val) c.3926A>T (p.Asp1309Val) n.365A>T c.1960-69A>T c.500A>T (p.Asp167Val) c.3947A>T (p.Asp1316Val) c.4007A>T (p.Asp1336Val) c.3659A>T (p.Asp1220Val) c.3488A>T (p.Asp1163Val) c.3374A>T (p.Asp1125Val) c.2936A>T (p.Asp979Val) n.4204A>T | |
3 | g.47000127dup | CA2577577260 | NBEAL2 | c.4028dup (p.Asp1343GlufsTer15) c.3926dup (p.Asp1309GlufsTer15) n.365dup c.1960-69dup c.500dup (p.Asp167GlufsTer15) c.3947dup (p.Asp1316GlufsTer15) c.4007dup (p.Asp1336GlufsTer15) c.3659dup (p.Asp1220GlufsTer15) c.3488dup (p.Asp1163GlufsTer15) c.3374dup (p.Asp1125GlufsTer15) c.2936dup (p.Asp979GlufsTer15) n.4204dup | gnomAD v4 |
3 | g.47000128T>A | CA352516762 | NBEAL2 | c.4029T>A (p.Asp1343Glu) c.3927T>A (p.Asp1309Glu) n.366T>A c.1960-68T>A c.501T>A (p.Asp167Glu) c.3948T>A (p.Asp1316Glu) c.4008T>A (p.Asp1336Glu) c.3660T>A (p.Asp1220Glu) c.3489T>A (p.Asp1163Glu) c.3375T>A (p.Asp1125Glu) c.2937T>A (p.Asp979Glu) n.4205T>A | |
3 | g.47000128T>C | CA2361128 | NBEAL2 | c.4029T>C (p.Asp1343=) c.3927T>C (p.Asp1309=) n.366T>C c.1960-68T>C c.501T>C (p.Asp167=) c.3948T>C (p.Asp1316=) c.4008T>C (p.Asp1336=) c.3660T>C (p.Asp1220=) c.3489T>C (p.Asp1163=) c.3375T>C (p.Asp1125=) c.2937T>C (p.Asp979=) n.4205T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.47000128T>G | CA352516763 | NBEAL2 | c.4029T>G (p.Asp1343Glu) c.3927T>G (p.Asp1309Glu) n.366T>G c.1960-68T>G c.501T>G (p.Asp167Glu) c.3948T>G (p.Asp1316Glu) c.4008T>G (p.Asp1336Glu) c.3660T>G (p.Asp1220Glu) c.3489T>G (p.Asp1163Glu) c.3375T>G (p.Asp1125Glu) c.2937T>G (p.Asp979Glu) n.4205T>G | |
3 | g.47000128T= | CA1362363032 | NBEAL2 | c.4029T= (p.Asp1343=) c.3927T= (p.Asp1309=) n.366T= c.1960-68T= c.501T= (p.Asp167=) c.3948T= (p.Asp1316=) c.4008T= (p.Asp1336=) c.3660T= (p.Asp1220=) c.3489T= (p.Asp1163=) c.3375T= (p.Asp1125=) c.2937T= (p.Asp979=) n.4205T= | |
3 | g.47000129G>A | CA352516764 | NBEAL2 | c.4030G>A (p.Gly1344Ser) c.3928G>A (p.Gly1310Ser) n.367G>A c.1960-67G>A c.502G>A (p.Gly168Ser) c.3949G>A (p.Gly1317Ser) c.4009G>A (p.Gly1337Ser) c.3661G>A (p.Gly1221Ser) c.3490G>A (p.Gly1164Ser) c.3376G>A (p.Gly1126Ser) c.2938G>A (p.Gly980Ser) n.4206G>A | |
3 | g.47000129G>C | CA352516765 | NBEAL2 | c.4030G>C (p.Gly1344Arg) c.3928G>C (p.Gly1310Arg) n.367G>C c.1960-67G>C c.502G>C (p.Gly168Arg) c.3949G>C (p.Gly1317Arg) c.4009G>C (p.Gly1337Arg) c.3661G>C (p.Gly1221Arg) c.3490G>C (p.Gly1164Arg) c.3376G>C (p.Gly1126Arg) c.2938G>C (p.Gly980Arg) n.4206G>C | |
3 | g.47000129G>T | CA352516766 | NBEAL2 | c.4030G>T (p.Gly1344Cys) c.3928G>T (p.Gly1310Cys) n.367G>T c.1960-67G>T c.502G>T (p.Gly168Cys) c.3949G>T (p.Gly1317Cys) c.4009G>T (p.Gly1337Cys) c.3661G>T (p.Gly1221Cys) c.3490G>T (p.Gly1164Cys) c.3376G>T (p.Gly1126Cys) c.2938G>T (p.Gly980Cys) n.4206G>T | |
3 | g.47000130G>A | CA352516769 | NBEAL2 | c.4031G>A (p.Gly1344Asp) c.3929G>A (p.Gly1310Asp) n.368G>A c.1960-66G>A c.503G>A (p.Gly168Asp) c.3950G>A (p.Gly1317Asp) c.4010G>A (p.Gly1337Asp) c.3662G>A (p.Gly1221Asp) c.3491G>A (p.Gly1164Asp) c.3377G>A (p.Gly1126Asp) c.2939G>A (p.Gly980Asp) n.4207G>A | |
3 | g.47000130G>C | CA352516767 | NBEAL2 | c.4031G>C (p.Gly1344Ala) c.3929G>C (p.Gly1310Ala) n.368G>C c.1960-66G>C c.503G>C (p.Gly168Ala) c.3950G>C (p.Gly1317Ala) c.4010G>C (p.Gly1337Ala) c.3662G>C (p.Gly1221Ala) c.3491G>C (p.Gly1164Ala) c.3377G>C (p.Gly1126Ala) c.2939G>C (p.Gly980Ala) n.4207G>C | |
3 | g.47000130G>T | CA352516768 | NBEAL2 | c.4031G>T (p.Gly1344Val) c.3929G>T (p.Gly1310Val) n.368G>T c.1960-66G>T c.503G>T (p.Gly168Val) c.3950G>T (p.Gly1317Val) c.4010G>T (p.Gly1337Val) c.3662G>T (p.Gly1221Val) c.3491G>T (p.Gly1164Val) c.3377G>T (p.Gly1126Val) c.2939G>T (p.Gly980Val) n.4207G>T | |
3 | g.47000131C>A | CA433598355 | NBEAL2 | c.4032C>A (p.Gly1344=) c.3930C>A (p.Gly1310=) n.369C>A c.1960-65C>A c.504C>A (p.Gly168=) c.3951C>A (p.Gly1317=) c.4011C>A (p.Gly1337=) c.3663C>A (p.Gly1221=) c.3492C>A (p.Gly1164=) c.3378C>A (p.Gly1126=) c.2940C>A (p.Gly980=) n.4208C>A | |
3 | g.47000131C= | CA1362363033 | NBEAL2 | c.4032C= (p.Gly1344=) c.3930C= (p.Gly1310=) n.369C= c.1960-65C= c.504C= (p.Gly168=) c.3951C= (p.Gly1317=) c.4011C= (p.Gly1337=) c.3663C= (p.Gly1221=) c.3492C= (p.Gly1164=) c.3378C= (p.Gly1126=) c.2940C= (p.Gly980=) n.4208C= | |
3 | g.47000131C>G | CA433598356 | NBEAL2 | c.4032C>G (p.Gly1344=) c.3930C>G (p.Gly1310=) n.369C>G c.1960-65C>G c.504C>G (p.Gly168=) c.3951C>G (p.Gly1317=) c.4011C>G (p.Gly1337=) c.3663C>G (p.Gly1221=) c.3492C>G (p.Gly1164=) c.3378C>G (p.Gly1126=) c.2940C>G (p.Gly980=) n.4208C>G | |
3 | g.47000131C>T | CA2361129 | NBEAL2 | c.4032C>T (p.Gly1344=) c.3930C>T (p.Gly1310=) n.369C>T c.1960-65C>T c.504C>T (p.Gly168=) c.3951C>T (p.Gly1317=) c.4011C>T (p.Gly1337=) c.3663C>T (p.Gly1221=) c.3492C>T (p.Gly1164=) c.3378C>T (p.Gly1126=) c.2940C>T (p.Gly980=) n.4208C>T | dbSNP ExAC gnomAD v3 gnomAD v4 |
3 | g.47000132T>A | CA352516770 | NBEAL2 | c.4033T>A (p.Phe1345Ile) c.3931T>A (p.Phe1311Ile) n.370T>A c.1960-64T>A c.505T>A (p.Phe169Ile) c.3952T>A (p.Phe1318Ile) c.4012T>A (p.Phe1338Ile) c.3664T>A (p.Phe1222Ile) c.3493T>A (p.Phe1165Ile) c.3379T>A (p.Phe1127Ile) c.2941T>A (p.Phe981Ile) n.4209T>A | gnomAD v4 |
3 | g.47000132T>C | CA352516771 | NBEAL2 | c.4033T>C (p.Phe1345Leu) c.3931T>C (p.Phe1311Leu) n.370T>C c.1960-64T>C c.505T>C (p.Phe169Leu) c.3952T>C (p.Phe1318Leu) c.4012T>C (p.Phe1338Leu) c.3664T>C (p.Phe1222Leu) c.3493T>C (p.Phe1165Leu) c.3379T>C (p.Phe1127Leu) c.2941T>C (p.Phe981Leu) n.4209T>C | |
3 | g.47000132T>G | CA352516772 | NBEAL2 | c.4033T>G (p.Phe1345Val) c.3931T>G (p.Phe1311Val) n.370T>G c.1960-64T>G c.505T>G (p.Phe169Val) c.3952T>G (p.Phe1318Val) c.4012T>G (p.Phe1338Val) c.3664T>G (p.Phe1222Val) c.3493T>G (p.Phe1165Val) c.3379T>G (p.Phe1127Val) c.2941T>G (p.Phe981Val) n.4209T>G | |
3 | g.47000135del | CA433598359 | NBEAL2 | c.4036del (p.Tyr1346ThrfsTer20) c.3934del (p.Tyr1312ThrfsTer20) n.373del c.1960-61del c.508del (p.Tyr170ThrfsTer20) c.3955del (p.Tyr1319ThrfsTer20) c.4015del (p.Tyr1339ThrfsTer20) c.3667del (p.Tyr1223ThrfsTer20) c.3496del (p.Tyr1166ThrfsTer20) c.3382del (p.Tyr1128ThrfsTer20) c.2944del (p.Tyr982ThrfsTer20) n.4212del | COSMIC |
3 | g.47000133T>A | CA352516773 | NBEAL2 | c.4034T>A (p.Phe1345Tyr) c.3932T>A (p.Phe1311Tyr) n.371T>A c.1960-63T>A c.506T>A (p.Phe169Tyr) c.3953T>A (p.Phe1318Tyr) c.4013T>A (p.Phe1338Tyr) c.3665T>A (p.Phe1222Tyr) c.3494T>A (p.Phe1165Tyr) c.3380T>A (p.Phe1127Tyr) c.2942T>A (p.Phe981Tyr) n.4210T>A | |
3 | g.47000133T>C | CA352516774 | NBEAL2 | c.4034T>C (p.Phe1345Ser) c.3932T>C (p.Phe1311Ser) n.371T>C c.1960-63T>C c.506T>C (p.Phe169Ser) c.3953T>C (p.Phe1318Ser) c.4013T>C (p.Phe1338Ser) c.3665T>C (p.Phe1222Ser) c.3494T>C (p.Phe1165Ser) c.3380T>C (p.Phe1127Ser) c.2942T>C (p.Phe981Ser) n.4210T>C | |
3 | g.47000133T>G | CA352516775 | NBEAL2 | c.4034T>G (p.Phe1345Cys) c.3932T>G (p.Phe1311Cys) n.371T>G c.1960-63T>G c.506T>G (p.Phe169Cys) c.3953T>G (p.Phe1318Cys) c.4013T>G (p.Phe1338Cys) c.3665T>G (p.Phe1222Cys) c.3494T>G (p.Phe1165Cys) c.3380T>G (p.Phe1127Cys) c.2942T>G (p.Phe981Cys) n.4210T>G | |
3 | g.47000134T>A | CA352516776 | NBEAL2 | c.4035T>A (p.Phe1345Leu) c.3933T>A (p.Phe1311Leu) n.372T>A c.1960-62T>A c.507T>A (p.Phe169Leu) c.3954T>A (p.Phe1318Leu) c.4014T>A (p.Phe1338Leu) c.3666T>A (p.Phe1222Leu) c.3495T>A (p.Phe1165Leu) c.3381T>A (p.Phe1127Leu) c.2943T>A (p.Phe981Leu) n.4211T>A | |
3 | g.47000134T>C | CA433598361 | NBEAL2 | c.4035T>C (p.Phe1345=) c.3933T>C (p.Phe1311=) n.372T>C c.1960-62T>C c.507T>C (p.Phe169=) c.3954T>C (p.Phe1318=) c.4014T>C (p.Phe1338=) c.3666T>C (p.Phe1222=) c.3495T>C (p.Phe1165=) c.3381T>C (p.Phe1127=) c.2943T>C (p.Phe981=) n.4211T>C | |
3 | g.47000134T>G | CA352516777 | NBEAL2 | c.4035T>G (p.Phe1345Leu) c.3933T>G (p.Phe1311Leu) n.372T>G c.1960-62T>G c.507T>G (p.Phe169Leu) c.3954T>G (p.Phe1318Leu) c.4014T>G (p.Phe1338Leu) c.3666T>G (p.Phe1222Leu) c.3495T>G (p.Phe1165Leu) c.3381T>G (p.Phe1127Leu) c.2943T>G (p.Phe981Leu) n.4211T>G | |
3 | g.47000135T>A | CA352516778 | NBEAL2 | c.4036T>A (p.Tyr1346Asn) c.3934T>A (p.Tyr1312Asn) n.373T>A c.1960-61T>A c.508T>A (p.Tyr170Asn) c.3955T>A (p.Tyr1319Asn) c.4015T>A (p.Tyr1339Asn) c.3667T>A (p.Tyr1223Asn) c.3496T>A (p.Tyr1166Asn) c.3382T>A (p.Tyr1128Asn) c.2944T>A (p.Tyr982Asn) n.4212T>A | |
3 | g.47000135T>C | CA352516779 | NBEAL2 | c.4036T>C (p.Tyr1346His) c.3934T>C (p.Tyr1312His) n.373T>C c.1960-61T>C c.508T>C (p.Tyr170His) c.3955T>C (p.Tyr1319His) c.4015T>C (p.Tyr1339His) c.3667T>C (p.Tyr1223His) c.3496T>C (p.Tyr1166His) c.3382T>C (p.Tyr1128His) c.2944T>C (p.Tyr982His) n.4212T>C | gnomAD v4 |
3 | g.47000135T>G | CA352516780 | NBEAL2 | c.4036T>G (p.Tyr1346Asp) c.3934T>G (p.Tyr1312Asp) n.373T>G c.1960-61T>G c.508T>G (p.Tyr170Asp) c.3955T>G (p.Tyr1319Asp) c.4015T>G (p.Tyr1339Asp) c.3667T>G (p.Tyr1223Asp) c.3496T>G (p.Tyr1166Asp) c.3382T>G (p.Tyr1128Asp) c.2944T>G (p.Tyr982Asp) n.4212T>G | |
3 | g.47000136A>C | CA352516783 | NBEAL2 | c.4037A>C (p.Tyr1346Ser) c.3935A>C (p.Tyr1312Ser) n.374A>C c.1960-60A>C c.509A>C (p.Tyr170Ser) c.3956A>C (p.Tyr1319Ser) c.4016A>C (p.Tyr1339Ser) c.3668A>C (p.Tyr1223Ser) c.3497A>C (p.Tyr1166Ser) c.3383A>C (p.Tyr1128Ser) c.2945A>C (p.Tyr982Ser) n.4213A>C | |
3 | g.47000136A>G | CA352516782 | NBEAL2 | c.4037A>G (p.Tyr1346Cys) c.3935A>G (p.Tyr1312Cys) n.374A>G c.1960-60A>G c.509A>G (p.Tyr170Cys) c.3956A>G (p.Tyr1319Cys) c.4016A>G (p.Tyr1339Cys) c.3668A>G (p.Tyr1223Cys) c.3497A>G (p.Tyr1166Cys) c.3383A>G (p.Tyr1128Cys) c.2945A>G (p.Tyr982Cys) n.4213A>G | |
3 | g.47000136A>T | CA352516781 | NBEAL2 | c.4037A>T (p.Tyr1346Phe) c.3935A>T (p.Tyr1312Phe) n.374A>T c.1960-60A>T c.509A>T (p.Tyr170Phe) c.3956A>T (p.Tyr1319Phe) c.4016A>T (p.Tyr1339Phe) c.3668A>T (p.Tyr1223Phe) c.3497A>T (p.Tyr1166Phe) c.3383A>T (p.Tyr1128Phe) c.2945A>T (p.Tyr982Phe) n.4213A>T | |
3 | g.47000137C>A | CA352516785 | NBEAL2 | c.4038C>A (p.Tyr1346Ter) c.3936C>A (p.Tyr1312Ter) n.375C>A c.1960-59C>A c.510C>A (p.Tyr170Ter) c.3957C>A (p.Tyr1319Ter) c.4017C>A (p.Tyr1339Ter) c.3669C>A (p.Tyr1223Ter) c.3498C>A (p.Tyr1166Ter) c.3384C>A (p.Tyr1128Ter) c.2946C>A (p.Tyr982Ter) n.4214C>A | |
3 | g.47000137C= | CA1362363034 | NBEAL2 | c.4038C= (p.Tyr1346=) c.3936C= (p.Tyr1312=) n.375C= c.1960-59C= c.510C= (p.Tyr170=) c.3957C= (p.Tyr1319=) c.4017C= (p.Tyr1339=) c.3669C= (p.Tyr1223=) c.3498C= (p.Tyr1166=) c.3384C= (p.Tyr1128=) c.2946C= (p.Tyr982=) n.4214C= | |
3 | g.47000137C>G | CA352516784 | NBEAL2 | c.4038C>G (p.Tyr1346Ter) c.3936C>G (p.Tyr1312Ter) n.375C>G c.1960-59C>G c.510C>G (p.Tyr170Ter) c.3957C>G (p.Tyr1319Ter) c.4017C>G (p.Tyr1339Ter) c.3669C>G (p.Tyr1223Ter) c.3498C>G (p.Tyr1166Ter) c.3384C>G (p.Tyr1128Ter) c.2946C>G (p.Tyr982Ter) n.4214C>G | |
3 | g.47000137C>T | CA2361130 | NBEAL2 | c.4038C>T (p.Tyr1346=) c.3936C>T (p.Tyr1312=) n.375C>T c.1960-59C>T c.510C>T (p.Tyr170=) c.3957C>T (p.Tyr1319=) c.4017C>T (p.Tyr1339=) c.3669C>T (p.Tyr1223=) c.3498C>T (p.Tyr1166=) c.3384C>T (p.Tyr1128=) c.2946C>T (p.Tyr982=) n.4214C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.47000138C>A | CA352516786 | NBEAL2 | c.4039C>A (p.His1347Asn) c.3937C>A (p.His1313Asn) n.376C>A c.1960-58C>A c.511C>A (p.His171Asn) c.3958C>A (p.His1320Asn) c.4018C>A (p.His1340Asn) c.3670C>A (p.His1224Asn) c.3499C>A (p.His1167Asn) c.3385C>A (p.His1129Asn) c.2947C>A (p.His983Asn) n.4215C>A | |
3 | g.47000138C>G | CA352516787 | NBEAL2 | c.4039C>G (p.His1347Asp) c.3937C>G (p.His1313Asp) n.376C>G c.1960-58C>G c.511C>G (p.His171Asp) c.3958C>G (p.His1320Asp) c.4018C>G (p.His1340Asp) c.3670C>G (p.His1224Asp) c.3499C>G (p.His1167Asp) c.3385C>G (p.His1129Asp) c.2947C>G (p.His983Asp) n.4215C>G | gnomAD v4 |
3 | g.47000138C>T | CA352516788 | NBEAL2 | c.4039C>T (p.His1347Tyr) c.3937C>T (p.His1313Tyr) n.376C>T c.1960-58C>T c.511C>T (p.His171Tyr) c.3958C>T (p.His1320Tyr) c.4018C>T (p.His1340Tyr) c.3670C>T (p.His1224Tyr) c.3499C>T (p.His1167Tyr) c.3385C>T (p.His1129Tyr) c.2947C>T (p.His983Tyr) n.4215C>T | |
3 | g.47000139A>C | CA352516789 | NBEAL2 | c.4040A>C (p.His1347Pro) c.3938A>C (p.His1313Pro) n.377A>C c.1960-57A>C c.512A>C (p.His171Pro) c.3959A>C (p.His1320Pro) c.4019A>C (p.His1340Pro) c.3671A>C (p.His1224Pro) c.3500A>C (p.His1167Pro) c.3386A>C (p.His1129Pro) c.2948A>C (p.His983Pro) n.4216A>C | |
3 | g.47000139A>G | CA352516790 | NBEAL2 | c.4040A>G (p.His1347Arg) c.3938A>G (p.His1313Arg) n.377A>G c.1960-57A>G c.512A>G (p.His171Arg) c.3959A>G (p.His1320Arg) c.4019A>G (p.His1340Arg) c.3671A>G (p.His1224Arg) c.3500A>G (p.His1167Arg) c.3386A>G (p.His1129Arg) c.2948A>G (p.His983Arg) n.4216A>G | |
3 | g.47000139A>T | CA352516791 | NBEAL2 | c.4040A>T (p.His1347Leu) c.3938A>T (p.His1313Leu) n.377A>T c.1960-57A>T c.512A>T (p.His171Leu) c.3959A>T (p.His1320Leu) c.4019A>T (p.His1340Leu) c.3671A>T (p.His1224Leu) c.3500A>T (p.His1167Leu) c.3386A>T (p.His1129Leu) c.2948A>T (p.His983Leu) n.4216A>T | |
3 | g.47000140T>A | CA352516792 | NBEAL2 | c.4041T>A (p.His1347Gln) c.3939T>A (p.His1313Gln) n.378T>A c.1960-56T>A c.513T>A (p.His171Gln) c.3960T>A (p.His1320Gln) c.4020T>A (p.His1340Gln) c.3672T>A (p.His1224Gln) c.3501T>A (p.His1167Gln) c.3387T>A (p.His1129Gln) c.2949T>A (p.His983Gln) n.4217T>A | gnomAD v4 |
3 | g.47000140T>C | CA2361131 | NBEAL2 | c.4041T>C (p.His1347=) c.3939T>C (p.His1313=) n.378T>C c.1960-56T>C c.513T>C (p.His171=) c.3960T>C (p.His1320=) c.4020T>C (p.His1340=) c.3672T>C (p.His1224=) c.3501T>C (p.His1167=) c.3387T>C (p.His1129=) c.2949T>C (p.His983=) n.4217T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.47000140T>G | CA352516793 | NBEAL2 | c.4041T>G (p.His1347Gln) c.3939T>G (p.His1313Gln) n.378T>G c.1960-56T>G c.513T>G (p.His171Gln) c.3960T>G (p.His1320Gln) c.4020T>G (p.His1340Gln) c.3672T>G (p.His1224Gln) c.3501T>G (p.His1167Gln) c.3387T>G (p.His1129Gln) c.2949T>G (p.His983Gln) n.4217T>G | |
3 | g.47000140T= | CA1362363035 | NBEAL2 | c.4041T= (p.His1347=) c.3939T= (p.His1313=) n.378T= c.1960-56T= c.513T= (p.His171=) c.3960T= (p.His1320=) c.4020T= (p.His1340=) c.3672T= (p.His1224=) c.3501T= (p.His1167=) c.3387T= (p.His1129=) c.2949T= (p.His983=) n.4217T= | |
3 | g.47000141G>A | CA352516794 | NBEAL2 | c.4042G>A (p.Ala1348Thr) c.3940G>A (p.Ala1314Thr) n.379G>A c.1960-55G>A c.514G>A (p.Ala172Thr) c.3961G>A (p.Ala1321Thr) c.4021G>A (p.Ala1341Thr) c.3673G>A (p.Ala1225Thr) c.3502G>A (p.Ala1168Thr) c.3388G>A (p.Ala1130Thr) c.2950G>A (p.Ala984Thr) n.4218G>A | |
3 | g.47000141G>C | CA352516795 | NBEAL2 | c.4042G>C (p.Ala1348Pro) c.3940G>C (p.Ala1314Pro) n.379G>C c.1960-55G>C c.514G>C (p.Ala172Pro) c.3961G>C (p.Ala1321Pro) c.4021G>C (p.Ala1341Pro) c.3673G>C (p.Ala1225Pro) c.3502G>C (p.Ala1168Pro) c.3388G>C (p.Ala1130Pro) c.2950G>C (p.Ala984Pro) n.4218G>C | |
3 | g.47000141G>T | CA352516796 | NBEAL2 | c.4042G>T (p.Ala1348Ser) c.3940G>T (p.Ala1314Ser) n.379G>T c.1960-55G>T c.514G>T (p.Ala172Ser) c.3961G>T (p.Ala1321Ser) c.4021G>T (p.Ala1341Ser) c.3673G>T (p.Ala1225Ser) c.3502G>T (p.Ala1168Ser) c.3388G>T (p.Ala1130Ser) c.2950G>T (p.Ala984Ser) n.4218G>T | |
3 | g.47000141_47000143delinsGCT | CA1362363036 | NBEAL2 | c.4042_4044delinsGCT (p.Ala1348=) c.3940_3942delinsGCT (p.Ala1314=) n.379_381delinsGCT c.1960-55_1960-53delinsGCT c.514_516delinsGCT (p.Ala172=) c.3961_3963delinsGCT (p.Ala1321=) c.4021_4023delinsGCT (p.Ala1341=) c.3673_3675delinsGCT (p.Ala1225=) c.3502_3504delinsGCT (p.Ala1168=) c.3388_3390delinsGCT (p.Ala1130=) c.2950_2952delinsGCT (p.Ala984=) n.4218_4220delinsGCT | |
3 | g.47000142C>A | CA352516799 | NBEAL2 | c.4043C>A (p.Ala1348Asp) c.3941C>A (p.Ala1314Asp) n.380C>A c.1960-54C>A c.515C>A (p.Ala172Asp) c.3962C>A (p.Ala1321Asp) c.4022C>A (p.Ala1341Asp) c.3674C>A (p.Ala1225Asp) c.3503C>A (p.Ala1168Asp) c.3389C>A (p.Ala1130Asp) c.2951C>A (p.Ala984Asp) n.4219C>A | COSMIC |
3 | g.47000142C>G | CA352516797 | NBEAL2 | c.4043C>G (p.Ala1348Gly) c.3941C>G (p.Ala1314Gly) n.380C>G c.1960-54C>G c.515C>G (p.Ala172Gly) c.3962C>G (p.Ala1321Gly) c.4022C>G (p.Ala1341Gly) c.3674C>G (p.Ala1225Gly) c.3503C>G (p.Ala1168Gly) c.3389C>G (p.Ala1130Gly) c.2951C>G (p.Ala984Gly) n.4219C>G | |
3 | g.47000142C>T | CA352516798 | NBEAL2 | c.4043C>T (p.Ala1348Val) c.3941C>T (p.Ala1314Val) n.380C>T c.1960-54C>T c.515C>T (p.Ala172Val) c.3962C>T (p.Ala1321Val) c.4022C>T (p.Ala1341Val) c.3674C>T (p.Ala1225Val) c.3503C>T (p.Ala1168Val) c.3389C>T (p.Ala1130Val) c.2951C>T (p.Ala984Val) n.4219C>T | |
3 | g.47000147_47000148del | CA1362363037 | NBEAL2 | c.4048_4049del (p.Ser1350ProfsTer7) c.3946_3947del (p.Ser1316ProfsTer7) n.385_386del c.1960-49_1960-48del c.520_521del (p.Ser174ProfsTer7) c.3967_3968del (p.Ser1323ProfsTer7) c.4027_4028del (p.Ser1343ProfsTer7) c.3679_3680del (p.Ser1227ProfsTer7) c.3508_3509del (p.Ser1170ProfsTer7) c.3394_3395del (p.Ser1132ProfsTer7) c.2956_2957del (p.Ser986ProfsTer7) n.4224_4225del | |
3 | g.47000143T>A | CA433598369 | NBEAL2 | c.4044T>A (p.Ala1348=) c.3942T>A (p.Ala1314=) n.381T>A c.1960-53T>A c.516T>A (p.Ala172=) c.3963T>A (p.Ala1321=) c.4023T>A (p.Ala1341=) c.3675T>A (p.Ala1225=) c.3504T>A (p.Ala1168=) c.3390T>A (p.Ala1130=) c.2952T>A (p.Ala984=) n.4220T>A | |
3 | g.47000143T>C | CA2361132 | NBEAL2 | c.4044T>C (p.Ala1348=) c.3942T>C (p.Ala1314=) n.381T>C c.1960-53T>C c.516T>C (p.Ala172=) c.3963T>C (p.Ala1321=) c.4023T>C (p.Ala1341=) c.3675T>C (p.Ala1225=) c.3504T>C (p.Ala1168=) c.3390T>C (p.Ala1130=) c.2952T>C (p.Ala984=) n.4220T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.47000143T>G | CA433598371 | NBEAL2 | c.4044T>G (p.Ala1348=) c.3942T>G (p.Ala1314=) n.381T>G c.1960-53T>G c.516T>G (p.Ala172=) c.3963T>G (p.Ala1321=) c.4023T>G (p.Ala1341=) c.3675T>G (p.Ala1225=) c.3504T>G (p.Ala1168=) c.3390T>G (p.Ala1130=) c.2952T>G (p.Ala984=) n.4220T>G | |
3 | g.47000143T= | CA1362363038 | NBEAL2 | c.4044T= (p.Ala1348=) c.3942T= (p.Ala1314=) n.381T= c.1960-53T= c.516T= (p.Ala172=) c.3963T= (p.Ala1321=) c.4023T= (p.Ala1341=) c.3675T= (p.Ala1225=) c.3504T= (p.Ala1168=) c.3390T= (p.Ala1130=) c.2952T= (p.Ala984=) n.4220T= | |
3 | g.47000144C>A | CA352516800 | NBEAL2 | c.4045C>A (p.Leu1349Ile) c.3943C>A (p.Leu1315Ile) n.382C>A c.1960-52C>A c.517C>A (p.Leu173Ile) c.3964C>A (p.Leu1322Ile) c.4024C>A (p.Leu1342Ile) c.3676C>A (p.Leu1226Ile) c.3505C>A (p.Leu1169Ile) c.3391C>A (p.Leu1131Ile) c.2953C>A (p.Leu985Ile) n.4221C>A | |
3 | g.47000144C= | CA1362363039 | NBEAL2 | c.4045C= (p.Leu1349=) c.3943C= (p.Leu1315=) n.382C= c.1960-52C= c.517C= (p.Leu173=) c.3964C= (p.Leu1322=) c.4024C= (p.Leu1342=) c.3676C= (p.Leu1226=) c.3505C= (p.Leu1169=) c.3391C= (p.Leu1131=) c.2953C= (p.Leu985=) n.4221C= | |
3 | g.47000144C>G | CA2361133 | NBEAL2 | c.4045C>G (p.Leu1349Val) c.3943C>G (p.Leu1315Val) n.382C>G c.1960-52C>G c.517C>G (p.Leu173Val) c.3964C>G (p.Leu1322Val) c.4024C>G (p.Leu1342Val) c.3676C>G (p.Leu1226Val) c.3505C>G (p.Leu1169Val) c.3391C>G (p.Leu1131Val) c.2953C>G (p.Leu985Val) n.4221C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.47000144C>T | CA352516801 | NBEAL2 | c.4045C>T (p.Leu1349Phe) c.3943C>T (p.Leu1315Phe) n.382C>T c.1960-52C>T c.517C>T (p.Leu173Phe) c.3964C>T (p.Leu1322Phe) c.4024C>T (p.Leu1342Phe) c.3676C>T (p.Leu1226Phe) c.3505C>T (p.Leu1169Phe) c.3391C>T (p.Leu1131Phe) c.2953C>T (p.Leu985Phe) n.4221C>T | gnomAD v4 |
3 | g.47000145T>A | CA352516802 | NBEAL2 | c.4046T>A (p.Leu1349His) c.3944T>A (p.Leu1315His) n.383T>A c.1960-51T>A c.518T>A (p.Leu173His) c.3965T>A (p.Leu1322His) c.4025T>A (p.Leu1342His) c.3677T>A (p.Leu1226His) c.3506T>A (p.Leu1169His) c.3392T>A (p.Leu1131His) c.2954T>A (p.Leu985His) n.4222T>A | gnomAD v4 |
3 | g.47000145T>C | CA352516803 | NBEAL2 | c.4046T>C (p.Leu1349Pro) c.3944T>C (p.Leu1315Pro) n.383T>C c.1960-51T>C c.518T>C (p.Leu173Pro) c.3965T>C (p.Leu1322Pro) c.4025T>C (p.Leu1342Pro) c.3677T>C (p.Leu1226Pro) c.3506T>C (p.Leu1169Pro) c.3392T>C (p.Leu1131Pro) c.2954T>C (p.Leu985Pro) n.4222T>C | |
3 | g.47000145T>G | CA352516804 | NBEAL2 | c.4046T>G (p.Leu1349Arg) c.3944T>G (p.Leu1315Arg) n.383T>G c.1960-51T>G c.518T>G (p.Leu173Arg) c.3965T>G (p.Leu1322Arg) c.4025T>G (p.Leu1342Arg) c.3677T>G (p.Leu1226Arg) c.3506T>G (p.Leu1169Arg) c.3392T>G (p.Leu1131Arg) c.2954T>G (p.Leu985Arg) n.4222T>G | |
3 | g.47000146C>A | CA433598372 | NBEAL2 | c.4047C>A (p.Leu1349=) c.3945C>A (p.Leu1315=) n.384C>A c.1960-50C>A c.519C>A (p.Leu173=) c.3966C>A (p.Leu1322=) c.4026C>A (p.Leu1342=) c.3678C>A (p.Leu1226=) c.3507C>A (p.Leu1169=) c.3393C>A (p.Leu1131=) c.2955C>A (p.Leu985=) n.4223C>A | ClinVar dbSNP gnomAD v4 |
3 | g.47000146C= | CA1362363040 | NBEAL2 | c.4047C= (p.Leu1349=) c.3945C= (p.Leu1315=) n.384C= c.1960-50C= c.519C= (p.Leu173=) c.3966C= (p.Leu1322=) c.4026C= (p.Leu1342=) c.3678C= (p.Leu1226=) c.3507C= (p.Leu1169=) c.3393C= (p.Leu1131=) c.2955C= (p.Leu985=) n.4223C= | |
3 | g.47000146C>G | CA433598373 | NBEAL2 | c.4047C>G (p.Leu1349=) c.3945C>G (p.Leu1315=) n.384C>G c.1960-50C>G c.519C>G (p.Leu173=) c.3966C>G (p.Leu1322=) c.4026C>G (p.Leu1342=) c.3678C>G (p.Leu1226=) c.3507C>G (p.Leu1169=) c.3393C>G (p.Leu1131=) c.2955C>G (p.Leu985=) n.4223C>G | |
3 | g.47000146C>T | CA2361134 | NBEAL2 | c.4047C>T (p.Leu1349=) c.3945C>T (p.Leu1315=) n.384C>T c.1960-50C>T c.519C>T (p.Leu173=) c.3966C>T (p.Leu1322=) c.4026C>T (p.Leu1342=) c.3678C>T (p.Leu1226=) c.3507C>T (p.Leu1169=) c.3393C>T (p.Leu1131=) c.2955C>T (p.Leu985=) n.4223C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.47000147T>A | CA352516805 | NBEAL2 | c.4048T>A (p.Ser1350Thr) c.3946T>A (p.Ser1316Thr) n.385T>A c.1960-49T>A c.520T>A (p.Ser174Thr) c.3967T>A (p.Ser1323Thr) c.4027T>A (p.Ser1343Thr) c.3679T>A (p.Ser1227Thr) c.3508T>A (p.Ser1170Thr) c.3394T>A (p.Ser1132Thr) c.2956T>A (p.Ser986Thr) n.4224T>A | |
3 | g.47000147T>C | CA352516806 | NBEAL2 | c.4048T>C (p.Ser1350Pro) c.3946T>C (p.Ser1316Pro) n.385T>C c.1960-49T>C c.520T>C (p.Ser174Pro) c.3967T>C (p.Ser1323Pro) c.4027T>C (p.Ser1343Pro) c.3679T>C (p.Ser1227Pro) c.3508T>C (p.Ser1170Pro) c.3394T>C (p.Ser1132Pro) c.2956T>C (p.Ser986Pro) n.4224T>C | dbSNP |
3 | g.47000147T>G | CA352516807 | NBEAL2 | c.4048T>G (p.Ser1350Ala) c.3946T>G (p.Ser1316Ala) n.385T>G c.1960-49T>G c.520T>G (p.Ser174Ala) c.3967T>G (p.Ser1323Ala) c.4027T>G (p.Ser1343Ala) c.3679T>G (p.Ser1227Ala) c.3508T>G (p.Ser1170Ala) c.3394T>G (p.Ser1132Ala) c.2956T>G (p.Ser986Ala) n.4224T>G | |
3 | g.47000147T= | CA1362363041 | NBEAL2 | c.4048T= (p.Ser1350=) c.3946T= (p.Ser1316=) n.385T= c.1960-49T= c.520T= (p.Ser174=) c.3967T= (p.Ser1323=) c.4027T= (p.Ser1343=) c.3679T= (p.Ser1227=) c.3508T= (p.Ser1170=) c.3394T= (p.Ser1132=) c.2956T= (p.Ser986=) n.4224T= | |
3 | g.47000148C>A | CA352516808 | NBEAL2 | c.4049C>A (p.Ser1350Tyr) c.3947C>A (p.Ser1316Tyr) n.386C>A c.1960-48C>A c.521C>A (p.Ser174Tyr) c.3968C>A (p.Ser1323Tyr) c.4028C>A (p.Ser1343Tyr) c.3680C>A (p.Ser1227Tyr) c.3509C>A (p.Ser1170Tyr) c.3395C>A (p.Ser1132Tyr) c.2957C>A (p.Ser986Tyr) n.4225C>A | |
3 | g.47000148C= | CA1362363042 | NBEAL2 | c.4049C= (p.Ser1350=) c.3947C= (p.Ser1316=) n.386C= c.1960-48C= c.521C= (p.Ser174=) c.3968C= (p.Ser1323=) c.4028C= (p.Ser1343=) c.3680C= (p.Ser1227=) c.3509C= (p.Ser1170=) c.3395C= (p.Ser1132=) c.2957C= (p.Ser986=) n.4225C= | |
3 | g.47000148C>G | CA352516809 | NBEAL2 | c.4049C>G (p.Ser1350Cys) c.3947C>G (p.Ser1316Cys) n.386C>G c.1960-48C>G c.521C>G (p.Ser174Cys) c.3968C>G (p.Ser1323Cys) c.4028C>G (p.Ser1343Cys) c.3680C>G (p.Ser1227Cys) c.3509C>G (p.Ser1170Cys) c.3395C>G (p.Ser1132Cys) c.2957C>G (p.Ser986Cys) n.4225C>G | |
3 | g.47000148C>T | CA2361135 | NBEAL2 | c.4049C>T (p.Ser1350Phe) c.3947C>T (p.Ser1316Phe) n.386C>T c.1960-48C>T c.521C>T (p.Ser174Phe) c.3968C>T (p.Ser1323Phe) c.4028C>T (p.Ser1343Phe) c.3680C>T (p.Ser1227Phe) c.3509C>T (p.Ser1170Phe) c.3395C>T (p.Ser1132Phe) c.2957C>T (p.Ser986Phe) n.4225C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.47000149C>A | CA433598377 | NBEAL2 | c.4050C>A (p.Ser1350=) c.3948C>A (p.Ser1316=) n.387C>A c.1960-47C>A c.522C>A (p.Ser174=) c.3969C>A (p.Ser1323=) c.4029C>A (p.Ser1343=) c.3681C>A (p.Ser1227=) c.3510C>A (p.Ser1170=) c.3396C>A (p.Ser1132=) c.2958C>A (p.Ser986=) n.4226C>A | dbSNP gnomAD v3 gnomAD v4 |
3 | g.47000149C= | CA1362363043 | NBEAL2 | c.4050C= (p.Ser1350=) c.3948C= (p.Ser1316=) n.387C= c.1960-47C= c.522C= (p.Ser174=) c.3969C= (p.Ser1323=) c.4029C= (p.Ser1343=) c.3681C= (p.Ser1227=) c.3510C= (p.Ser1170=) c.3396C= (p.Ser1132=) c.2958C= (p.Ser986=) n.4226C= | |
3 | g.47000149C>G | CA433598378 | NBEAL2 | c.4050C>G (p.Ser1350=) c.3948C>G (p.Ser1316=) n.387C>G c.1960-47C>G c.522C>G (p.Ser174=) c.3969C>G (p.Ser1323=) c.4029C>G (p.Ser1343=) c.3681C>G (p.Ser1227=) c.3510C>G (p.Ser1170=) c.3396C>G (p.Ser1132=) c.2958C>G (p.Ser986=) n.4226C>G | |
3 | g.47000149C>T | CA2361136 | NBEAL2 | c.4050C>T (p.Ser1350=) c.3948C>T (p.Ser1316=) n.387C>T c.1960-47C>T c.522C>T (p.Ser174=) c.3969C>T (p.Ser1323=) c.4029C>T (p.Ser1343=) c.3681C>T (p.Ser1227=) c.3510C>T (p.Ser1170=) c.3396C>T (p.Ser1132=) c.2958C>T (p.Ser986=) n.4226C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.47000150C>A | CA352516810 | NBEAL2 | c.4051C>A (p.Pro1351Thr) c.3949C>A (p.Pro1317Thr) n.388C>A c.1960-46C>A c.523C>A (p.Pro175Thr) c.3970C>A (p.Pro1324Thr) c.4030C>A (p.Pro1344Thr) c.3682C>A (p.Pro1228Thr) c.3511C>A (p.Pro1171Thr) c.3397C>A (p.Pro1133Thr) c.2959C>A (p.Pro987Thr) n.4227C>A | |
3 | g.47000150C>G | CA352516811 | NBEAL2 | c.4051C>G (p.Pro1351Ala) c.3949C>G (p.Pro1317Ala) n.388C>G c.1960-46C>G c.523C>G (p.Pro175Ala) c.3970C>G (p.Pro1324Ala) c.4030C>G (p.Pro1344Ala) c.3682C>G (p.Pro1228Ala) c.3511C>G (p.Pro1171Ala) c.3397C>G (p.Pro1133Ala) c.2959C>G (p.Pro987Ala) n.4227C>G | |
3 | g.47000150C>T | CA352516812 | NBEAL2 | c.4051C>T (p.Pro1351Ser) c.3949C>T (p.Pro1317Ser) n.388C>T c.1960-46C>T c.523C>T (p.Pro175Ser) c.3970C>T (p.Pro1324Ser) c.4030C>T (p.Pro1344Ser) c.3682C>T (p.Pro1228Ser) c.3511C>T (p.Pro1171Ser) c.3397C>T (p.Pro1133Ser) c.2959C>T (p.Pro987Ser) n.4227C>T | |
3 | g.47000151C>A | CA352516813 | NBEAL2 | c.4052C>A (p.Pro1351Gln) c.3950C>A (p.Pro1317Gln) n.389C>A c.1960-45C>A c.524C>A (p.Pro175Gln) c.3971C>A (p.Pro1324Gln) c.4031C>A (p.Pro1344Gln) c.3683C>A (p.Pro1228Gln) c.3512C>A (p.Pro1171Gln) c.3398C>A (p.Pro1133Gln) c.2960C>A (p.Pro987Gln) n.4228C>A | dbSNP gnomAD v2 gnomAD v4 |
3 | g.47000151C= | CA1362363044 | NBEAL2 | c.4052C= (p.Pro1351=) c.3950C= (p.Pro1317=) n.389C= c.1960-45C= c.524C= (p.Pro175=) c.3971C= (p.Pro1324=) c.4031C= (p.Pro1344=) c.3683C= (p.Pro1228=) c.3512C= (p.Pro1171=) c.3398C= (p.Pro1133=) c.2960C= (p.Pro987=) n.4228C= | |
3 | g.47000151C>G | CA352516814 | NBEAL2 | c.4052C>G (p.Pro1351Arg) c.3950C>G (p.Pro1317Arg) n.389C>G c.1960-45C>G c.524C>G (p.Pro175Arg) c.3971C>G (p.Pro1324Arg) c.4031C>G (p.Pro1344Arg) c.3683C>G (p.Pro1228Arg) c.3512C>G (p.Pro1171Arg) c.3398C>G (p.Pro1133Arg) c.2960C>G (p.Pro987Arg) n.4228C>G | dbSNP |
3 | g.47000151C>T | CA352516815 | NBEAL2 | c.4052C>T (p.Pro1351Leu) c.3950C>T (p.Pro1317Leu) n.389C>T c.1960-45C>T c.524C>T (p.Pro175Leu) c.3971C>T (p.Pro1324Leu) c.4031C>T (p.Pro1344Leu) c.3683C>T (p.Pro1228Leu) c.3512C>T (p.Pro1171Leu) c.3398C>T (p.Pro1133Leu) c.2960C>T (p.Pro987Leu) n.4228C>T | |
3 | g.47000152A>C | CA433598380 | NBEAL2 | c.4053A>C (p.Pro1351=) c.3951A>C (p.Pro1317=) n.390A>C c.1960-44A>C c.525A>C (p.Pro175=) c.3972A>C (p.Pro1324=) c.4032A>C (p.Pro1344=) c.3684A>C (p.Pro1228=) c.3513A>C (p.Pro1171=) c.3399A>C (p.Pro1133=) c.2961A>C (p.Pro987=) n.4229A>C | |
3 | g.47000152A>G | CA433598381 | NBEAL2 | c.4053A>G (p.Pro1351=) c.3951A>G (p.Pro1317=) n.390A>G c.1960-44A>G c.525A>G (p.Pro175=) c.3972A>G (p.Pro1324=) c.4032A>G (p.Pro1344=) c.3684A>G (p.Pro1228=) c.3513A>G (p.Pro1171=) c.3399A>G (p.Pro1133=) c.2961A>G (p.Pro987=) n.4229A>G | |
3 | g.47000152A>T | CA433598382 | NBEAL2 | c.4053A>T (p.Pro1351=) c.3951A>T (p.Pro1317=) n.390A>T c.1960-44A>T c.525A>T (p.Pro175=) c.3972A>T (p.Pro1324=) c.4032A>T (p.Pro1344=) c.3684A>T (p.Pro1228=) c.3513A>T (p.Pro1171=) c.3399A>T (p.Pro1133=) c.2961A>T (p.Pro987=) n.4229A>T | |
3 | g.47000153T>A | CA352516816 | NBEAL2 | c.4054T>A (p.Phe1352Ile) c.3952T>A (p.Phe1318Ile) n.391T>A c.1960-43T>A c.526T>A (p.Phe176Ile) c.3973T>A (p.Phe1325Ile) c.4033T>A (p.Phe1345Ile) c.3685T>A (p.Phe1229Ile) c.3514T>A (p.Phe1172Ile) c.3400T>A (p.Phe1134Ile) c.2962T>A (p.Phe988Ile) n.4230T>A | |
3 | g.47000153T>C | CA352516817 | NBEAL2 | c.4054T>C (p.Phe1352Leu) c.3952T>C (p.Phe1318Leu) n.391T>C c.1960-43T>C c.526T>C (p.Phe176Leu) c.3973T>C (p.Phe1325Leu) c.4033T>C (p.Phe1345Leu) c.3685T>C (p.Phe1229Leu) c.3514T>C (p.Phe1172Leu) c.3400T>C (p.Phe1134Leu) c.2962T>C (p.Phe988Leu) n.4230T>C | |
3 | g.47000153T>G | CA352516818 | NBEAL2 | c.4054T>G (p.Phe1352Val) c.3952T>G (p.Phe1318Val) n.391T>G c.1960-43T>G c.526T>G (p.Phe176Val) c.3973T>G (p.Phe1325Val) c.4033T>G (p.Phe1345Val) c.3685T>G (p.Phe1229Val) c.3514T>G (p.Phe1172Val) c.3400T>G (p.Phe1134Val) c.2962T>G (p.Phe988Val) n.4230T>G | |
3 | g.47000154T>A | CA352516819 | NBEAL2 | c.4055T>A (p.Phe1352Tyr) c.3953T>A (p.Phe1318Tyr) n.392T>A c.1960-42T>A c.527T>A (p.Phe176Tyr) c.3974T>A (p.Phe1325Tyr) c.4034T>A (p.Phe1345Tyr) c.3686T>A (p.Phe1229Tyr) c.3515T>A (p.Phe1172Tyr) c.3401T>A (p.Phe1134Tyr) c.2963T>A (p.Phe988Tyr) n.4231T>A | |
3 | g.47000154T>C | CA352516820 | NBEAL2 | c.4055T>C (p.Phe1352Ser) c.3953T>C (p.Phe1318Ser) n.392T>C c.1960-42T>C c.527T>C (p.Phe176Ser) c.3974T>C (p.Phe1325Ser) c.4034T>C (p.Phe1345Ser) c.3686T>C (p.Phe1229Ser) c.3515T>C (p.Phe1172Ser) c.3401T>C (p.Phe1134Ser) c.2963T>C (p.Phe988Ser) n.4231T>C | |
3 | g.47000154T>G | CA352516821 | NBEAL2 | c.4055T>G (p.Phe1352Cys) c.3953T>G (p.Phe1318Cys) n.392T>G c.1960-42T>G c.527T>G (p.Phe176Cys) c.3974T>G (p.Phe1325Cys) c.4034T>G (p.Phe1345Cys) c.3686T>G (p.Phe1229Cys) c.3515T>G (p.Phe1172Cys) c.3401T>G (p.Phe1134Cys) c.2963T>G (p.Phe988Cys) n.4231T>G | |
3 | g.47000155C>A | CA352516823 | NBEAL2 | c.4056C>A (p.Phe1352Leu) c.3954C>A (p.Phe1318Leu) n.393C>A c.1960-41C>A c.528C>A (p.Phe176Leu) c.3975C>A (p.Phe1325Leu) c.4035C>A (p.Phe1345Leu) c.3687C>A (p.Phe1229Leu) c.3516C>A (p.Phe1172Leu) c.3402C>A (p.Phe1134Leu) c.2964C>A (p.Phe988Leu) n.4232C>A | |
3 | g.47000155C= | CA1362363045 | NBEAL2 | c.4056C= (p.Phe1352=) c.3954C= (p.Phe1318=) n.393C= c.1960-41C= c.528C= (p.Phe176=) c.3975C= (p.Phe1325=) c.4035C= (p.Phe1345=) c.3687C= (p.Phe1229=) c.3516C= (p.Phe1172=) c.3402C= (p.Phe1134=) c.2964C= (p.Phe988=) n.4232C= | |
3 | g.47000155C>G | CA352516822 | NBEAL2 | c.4056C>G (p.Phe1352Leu) c.3954C>G (p.Phe1318Leu) n.393C>G c.1960-41C>G c.528C>G (p.Phe176Leu) c.3975C>G (p.Phe1325Leu) c.4035C>G (p.Phe1345Leu) c.3687C>G (p.Phe1229Leu) c.3516C>G (p.Phe1172Leu) c.3402C>G (p.Phe1134Leu) c.2964C>G (p.Phe988Leu) n.4232C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.47000155C>T | CA433598385 | NBEAL2 | c.4056C>T (p.Phe1352=) c.3954C>T (p.Phe1318=) n.393C>T c.1960-41C>T c.528C>T (p.Phe176=) c.3975C>T (p.Phe1325=) c.4035C>T (p.Phe1345=) c.3687C>T (p.Phe1229=) c.3516C>T (p.Phe1172=) c.3402C>T (p.Phe1134=) c.2964C>T (p.Phe988=) n.4232C>T | COSMIC |
3 | g.47000156T>A | CA352516824 | NBEAL2 | c.4057T>A (p.Cys1353Ser) c.3955T>A (p.Cys1319Ser) n.394T>A c.1960-40T>A c.529T>A (p.Cys177Ser) c.3976T>A (p.Cys1326Ser) c.4036T>A (p.Cys1346Ser) c.3688T>A (p.Cys1230Ser) c.3517T>A (p.Cys1173Ser) c.3403T>A (p.Cys1135Ser) c.2965T>A (p.Cys989Ser) n.4233T>A | |
3 | g.47000156T>C | CA352516825 | NBEAL2 | c.4057T>C (p.Cys1353Arg) c.3955T>C (p.Cys1319Arg) n.394T>C c.1960-40T>C c.529T>C (p.Cys177Arg) c.3976T>C (p.Cys1326Arg) c.4036T>C (p.Cys1346Arg) c.3688T>C (p.Cys1230Arg) c.3517T>C (p.Cys1173Arg) c.3403T>C (p.Cys1135Arg) c.2965T>C (p.Cys989Arg) n.4233T>C | |
3 | g.47000156T>G | CA352516826 | NBEAL2 | c.4057T>G (p.Cys1353Gly) c.3955T>G (p.Cys1319Gly) n.394T>G c.1960-40T>G c.529T>G (p.Cys177Gly) c.3976T>G (p.Cys1326Gly) c.4036T>G (p.Cys1346Gly) c.3688T>G (p.Cys1230Gly) c.3517T>G (p.Cys1173Gly) c.3403T>G (p.Cys1135Gly) c.2965T>G (p.Cys989Gly) n.4233T>G | |
3 | g.47000157G>A | CA352516827 | NBEAL2 | c.4058G>A (p.Cys1353Tyr) c.3956G>A (p.Cys1319Tyr) n.395G>A c.1960-39G>A c.530G>A (p.Cys177Tyr) c.3977G>A (p.Cys1326Tyr) c.4037G>A (p.Cys1346Tyr) c.3689G>A (p.Cys1230Tyr) c.3518G>A (p.Cys1173Tyr) c.3404G>A (p.Cys1135Tyr) c.2966G>A (p.Cys989Tyr) n.4234G>A | |
3 | g.47000157G>C | CA352516828 | NBEAL2 | c.4058G>C (p.Cys1353Ser) c.3956G>C (p.Cys1319Ser) n.395G>C c.1960-39G>C c.530G>C (p.Cys177Ser) c.3977G>C (p.Cys1326Ser) c.4037G>C (p.Cys1346Ser) c.3689G>C (p.Cys1230Ser) c.3518G>C (p.Cys1173Ser) c.3404G>C (p.Cys1135Ser) c.2966G>C (p.Cys989Ser) n.4234G>C | |
3 | g.47000157G>T | CA352516829 | NBEAL2 | c.4058G>T (p.Cys1353Phe) c.3956G>T (p.Cys1319Phe) n.395G>T c.1960-39G>T c.530G>T (p.Cys177Phe) c.3977G>T (p.Cys1326Phe) c.4037G>T (p.Cys1346Phe) c.3689G>T (p.Cys1230Phe) c.3518G>T (p.Cys1173Phe) c.3404G>T (p.Cys1135Phe) c.2966G>T (p.Cys989Phe) n.4234G>T | |
3 | g.47000158C>A | CA352516831 | NBEAL2 | c.4059C>A (p.Cys1353Ter) c.3957C>A (p.Cys1319Ter) n.396C>A c.1960-38C>A c.531C>A (p.Cys177Ter) c.3978C>A (p.Cys1326Ter) c.4038C>A (p.Cys1346Ter) c.3690C>A (p.Cys1230Ter) c.3519C>A (p.Cys1173Ter) c.3405C>A (p.Cys1135Ter) c.2967C>A (p.Cys989Ter) n.4235C>A | |
3 | g.47000158C>G | CA352516830 | NBEAL2 | c.4059C>G (p.Cys1353Trp) c.3957C>G (p.Cys1319Trp) n.396C>G c.1960-38C>G c.531C>G (p.Cys177Trp) c.3978C>G (p.Cys1326Trp) c.4038C>G (p.Cys1346Trp) c.3690C>G (p.Cys1230Trp) c.3519C>G (p.Cys1173Trp) c.3405C>G (p.Cys1135Trp) c.2967C>G (p.Cys989Trp) n.4235C>G | |
3 | g.47000158C>T | CA433598389 | NBEAL2 | c.4059C>T (p.Cys1353=) c.3957C>T (p.Cys1319=) n.396C>T c.1960-38C>T c.531C>T (p.Cys177=) c.3978C>T (p.Cys1326=) c.4038C>T (p.Cys1346=) c.3690C>T (p.Cys1230=) c.3519C>T (p.Cys1173=) c.3405C>T (p.Cys1135=) c.2967C>T (p.Cys989=) n.4235C>T | |
3 | g.47000159A>C | CA352516832 | NBEAL2 | c.4060A>C (p.Thr1354Pro) c.3958A>C (p.Thr1320Pro) n.397A>C c.1960-37A>C c.532A>C (p.Thr178Pro) c.3979A>C (p.Thr1327Pro) c.4039A>C (p.Thr1347Pro) c.3691A>C (p.Thr1231Pro) c.3520A>C (p.Thr1174Pro) c.3406A>C (p.Thr1136Pro) c.2968A>C (p.Thr990Pro) n.4236A>C | |
3 | g.47000159A>G | CA352516833 | NBEAL2 | c.4060A>G (p.Thr1354Ala) c.3958A>G (p.Thr1320Ala) n.397A>G c.1960-37A>G c.532A>G (p.Thr178Ala) c.3979A>G (p.Thr1327Ala) c.4039A>G (p.Thr1347Ala) c.3691A>G (p.Thr1231Ala) c.3520A>G (p.Thr1174Ala) c.3406A>G (p.Thr1136Ala) c.2968A>G (p.Thr990Ala) n.4236A>G | |
3 | g.47000159A>T | CA352516834 | NBEAL2 | c.4060A>T (p.Thr1354Ser) c.3958A>T (p.Thr1320Ser) n.397A>T c.1960-37A>T c.532A>T (p.Thr178Ser) c.3979A>T (p.Thr1327Ser) c.4039A>T (p.Thr1347Ser) c.3691A>T (p.Thr1231Ser) c.3520A>T (p.Thr1174Ser) c.3406A>T (p.Thr1136Ser) c.2968A>T (p.Thr990Ser) n.4236A>T | |
3 | g.47000160C>A | CA352516835 | NBEAL2 | c.4061C>A (p.Thr1354Lys) c.3959C>A (p.Thr1320Lys) n.398C>A c.1960-36C>A c.533C>A (p.Thr178Lys) c.3980C>A (p.Thr1327Lys) c.4040C>A (p.Thr1347Lys) c.3692C>A (p.Thr1231Lys) c.3521C>A (p.Thr1174Lys) c.3407C>A (p.Thr1136Lys) c.2969C>A (p.Thr990Lys) n.4237C>A | |
3 | g.47000160C= | CA1362363046 | NBEAL2 | c.4061C= (p.Thr1354=) c.3959C= (p.Thr1320=) n.398C= c.1960-36C= c.533C= (p.Thr178=) c.3980C= (p.Thr1327=) c.4040C= (p.Thr1347=) c.3692C= (p.Thr1231=) c.3521C= (p.Thr1174=) c.3407C= (p.Thr1136=) c.2969C= (p.Thr990=) n.4237C= | |
3 | g.47000160C>G | CA352516836 | NBEAL2 | c.4061C>G (p.Thr1354Arg) c.3959C>G (p.Thr1320Arg) n.398C>G c.1960-36C>G c.533C>G (p.Thr178Arg) c.3980C>G (p.Thr1327Arg) c.4040C>G (p.Thr1347Arg) c.3692C>G (p.Thr1231Arg) c.3521C>G (p.Thr1174Arg) c.3407C>G (p.Thr1136Arg) c.2969C>G (p.Thr990Arg) n.4237C>G | |
3 | g.47000160C>T | CA2361137 | NBEAL2 | c.4061C>T (p.Thr1354Met) c.3959C>T (p.Thr1320Met) n.398C>T c.1960-36C>T c.533C>T (p.Thr178Met) c.3980C>T (p.Thr1327Met) c.4040C>T (p.Thr1347Met) c.3692C>T (p.Thr1231Met) c.3521C>T (p.Thr1174Met) c.3407C>T (p.Thr1136Met) c.2969C>T (p.Thr990Met) n.4237C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.47000161G>A | CA73817774 | NBEAL2 | c.4062G>A (p.Thr1354=) c.3960G>A (p.Thr1320=) n.399G>A c.1960-35G>A c.534G>A (p.Thr178=) c.3981G>A (p.Thr1327=) c.4041G>A (p.Thr1347=) c.3693G>A (p.Thr1231=) c.3522G>A (p.Thr1174=) c.3408G>A (p.Thr1136=) c.2970G>A (p.Thr990=) n.4238G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
3 | g.47000161G>C | CA433598394 | NBEAL2 | c.4062G>C (p.Thr1354=) c.3960G>C (p.Thr1320=) n.399G>C c.1960-35G>C c.534G>C (p.Thr178=) c.3981G>C (p.Thr1327=) c.4041G>C (p.Thr1347=) c.3693G>C (p.Thr1231=) c.3522G>C (p.Thr1174=) c.3408G>C (p.Thr1136=) c.2970G>C (p.Thr990=) n.4238G>C | |
3 | g.47000161G= | CA1362363047 | NBEAL2 | c.4062G= (p.Thr1354=) c.3960G= (p.Thr1320=) n.399G= c.1960-35G= c.534G= (p.Thr178=) c.3981G= (p.Thr1327=) c.4041G= (p.Thr1347=) c.3693G= (p.Thr1231=) c.3522G= (p.Thr1174=) c.3408G= (p.Thr1136=) c.2970G= (p.Thr990=) n.4238G= | |
3 | g.47000161G>T | CA2361138 | NBEAL2 | c.4062G>T (p.Thr1354=) c.3960G>T (p.Thr1320=) n.399G>T c.1960-35G>T c.534G>T (p.Thr178=) c.3981G>T (p.Thr1327=) c.4041G>T (p.Thr1347=) c.3693G>T (p.Thr1231=) c.3522G>T (p.Thr1174=) c.3408G>T (p.Thr1136=) c.2970G>T (p.Thr990=) n.4238G>T | dbSNP ExAC gnomAD v3 gnomAD v4 |
3 | g.47000162C>A | CA352516837 | NBEAL2 | c.4063C>A (p.Pro1355Thr) c.3961C>A (p.Pro1321Thr) n.400C>A c.1960-34C>A c.535C>A (p.Pro179Thr) c.3982C>A (p.Pro1328Thr) c.4042C>A (p.Pro1348Thr) c.3694C>A (p.Pro1232Thr) c.3523C>A (p.Pro1175Thr) c.3409C>A (p.Pro1137Thr) c.2971C>A (p.Pro991Thr) n.4239C>A | |
3 | g.47000162C= | CA1362363048 | NBEAL2 | c.4063C= (p.Pro1355=) c.3961C= (p.Pro1321=) n.400C= c.1960-34C= c.535C= (p.Pro179=) c.3982C= (p.Pro1328=) c.4042C= (p.Pro1348=) c.3694C= (p.Pro1232=) c.3523C= (p.Pro1175=) c.3409C= (p.Pro1137=) c.2971C= (p.Pro991=) n.4239C= | |
3 | g.47000162C>G | CA352516838 | NBEAL2 | c.4063C>G (p.Pro1355Ala) c.3961C>G (p.Pro1321Ala) n.400C>G c.1960-34C>G c.535C>G (p.Pro179Ala) c.3982C>G (p.Pro1328Ala) c.4042C>G (p.Pro1348Ala) c.3694C>G (p.Pro1232Ala) c.3523C>G (p.Pro1175Ala) c.3409C>G (p.Pro1137Ala) c.2971C>G (p.Pro991Ala) n.4239C>G | |
3 | g.47000162C>T | CA73817775 | NBEAL2 | c.4063C>T (p.Pro1355Ser) c.3961C>T (p.Pro1321Ser) n.400C>T c.1960-34C>T c.535C>T (p.Pro179Ser) c.3982C>T (p.Pro1328Ser) c.4042C>T (p.Pro1348Ser) c.3694C>T (p.Pro1232Ser) c.3523C>T (p.Pro1175Ser) c.3409C>T (p.Pro1137Ser) c.2971C>T (p.Pro991Ser) n.4239C>T | dbSNP gnomAD v3 gnomAD v4 |
3 | g.47000163C>A | CA352516839 | NBEAL2 | c.4064C>A (p.Pro1355His) c.3962C>A (p.Pro1321His) n.401C>A c.1960-33C>A c.536C>A (p.Pro179His) c.3983C>A (p.Pro1328His) c.4043C>A (p.Pro1348His) c.3695C>A (p.Pro1232His) c.3524C>A (p.Pro1175His) c.3410C>A (p.Pro1137His) c.2972C>A (p.Pro991His) n.4240C>A | |
3 | g.47000163C>G | CA352516841 | NBEAL2 | c.4064C>G (p.Pro1355Arg) c.3962C>G (p.Pro1321Arg) n.401C>G c.1960-33C>G c.536C>G (p.Pro179Arg) c.3983C>G (p.Pro1328Arg) c.4043C>G (p.Pro1348Arg) c.3695C>G (p.Pro1232Arg) c.3524C>G (p.Pro1175Arg) c.3410C>G (p.Pro1137Arg) c.2972C>G (p.Pro991Arg) n.4240C>G | |
3 | g.47000163C>T | CA352516840 | NBEAL2 | c.4064C>T (p.Pro1355Leu) c.3962C>T (p.Pro1321Leu) n.401C>T c.1960-33C>T c.536C>T (p.Pro179Leu) c.3983C>T (p.Pro1328Leu) c.4043C>T (p.Pro1348Leu) c.3695C>T (p.Pro1232Leu) c.3524C>T (p.Pro1175Leu) c.3410C>T (p.Pro1137Leu) c.2972C>T (p.Pro991Leu) n.4240C>T | |
3 | g.47000164C>A | CA433598399 | NBEAL2 | c.4065C>A (p.Pro1355=) c.3963C>A (p.Pro1321=) n.402C>A c.1960-32C>A c.537C>A (p.Pro179=) c.3984C>A (p.Pro1328=) c.4044C>A (p.Pro1348=) c.3696C>A (p.Pro1232=) c.3525C>A (p.Pro1175=) c.3411C>A (p.Pro1137=) c.2973C>A (p.Pro991=) n.4241C>A | gnomAD v4 |
3 | g.47000164C= | CA1362363049 | NBEAL2 | c.4065C= (p.Pro1355=) c.3963C= (p.Pro1321=) n.402C= c.1960-32C= c.537C= (p.Pro179=) c.3984C= (p.Pro1328=) c.4044C= (p.Pro1348=) c.3696C= (p.Pro1232=) c.3525C= (p.Pro1175=) c.3411C= (p.Pro1137=) c.2973C= (p.Pro991=) n.4241C= | |
3 | g.47000164C>G | CA433598400 | NBEAL2 | c.4065C>G (p.Pro1355=) c.3963C>G (p.Pro1321=) n.402C>G c.1960-32C>G c.537C>G (p.Pro179=) c.3984C>G (p.Pro1328=) c.4044C>G (p.Pro1348=) c.3696C>G (p.Pro1232=) c.3525C>G (p.Pro1175=) c.3411C>G (p.Pro1137=) c.2973C>G (p.Pro991=) n.4241C>G | |
3 | g.47000164C>T | CA433598401 | NBEAL2 | c.4065C>T (p.Pro1355=) c.3963C>T (p.Pro1321=) n.402C>T c.1960-32C>T c.537C>T (p.Pro179=) c.3984C>T (p.Pro1328=) c.4044C>T (p.Pro1348=) c.3696C>T (p.Pro1232=) c.3525C>T (p.Pro1175=) c.3411C>T (p.Pro1137=) c.2973C>T (p.Pro991=) n.4241C>T | dbSNP |
3 | g.47000165T>A | CA352516842 | NBEAL2 | c.4066T>A (p.Phe1356Ile) c.3964T>A (p.Phe1322Ile) n.403T>A c.1960-31T>A c.538T>A (p.Phe180Ile) c.3985T>A (p.Phe1329Ile) c.4045T>A (p.Phe1349Ile) c.3697T>A (p.Phe1233Ile) c.3526T>A (p.Phe1176Ile) c.3412T>A (p.Phe1138Ile) c.2974T>A (p.Phe992Ile) n.4242T>A | |
3 | g.47000165T>C | CA352516843 | NBEAL2 | c.4066T>C (p.Phe1356Leu) c.3964T>C (p.Phe1322Leu) n.403T>C c.1960-31T>C c.538T>C (p.Phe180Leu) c.3985T>C (p.Phe1329Leu) c.4045T>C (p.Phe1349Leu) c.3697T>C (p.Phe1233Leu) c.3526T>C (p.Phe1176Leu) c.3412T>C (p.Phe1138Leu) c.2974T>C (p.Phe992Leu) n.4242T>C | |
3 | g.47000165T>G | CA352516844 | NBEAL2 | c.4066T>G (p.Phe1356Val) c.3964T>G (p.Phe1322Val) n.403T>G c.1960-31T>G c.538T>G (p.Phe180Val) c.3985T>G (p.Phe1329Val) c.4045T>G (p.Phe1349Val) c.3697T>G (p.Phe1233Val) c.3526T>G (p.Phe1176Val) c.3412T>G (p.Phe1138Val) c.2974T>G (p.Phe992Val) n.4242T>G | |
3 | g.47000167del | CA2838463771 | NBEAL2 | c.4068del (p.Phe1356LeufsTer10) c.3966del (p.Phe1322LeufsTer10) n.405del c.1960-29del c.540del (p.Phe180LeufsTer10) c.3987del (p.Phe1329LeufsTer10) c.4047del (p.Phe1349LeufsTer10) c.3699del (p.Phe1233LeufsTer10) c.3528del (p.Phe1176LeufsTer10) c.3414del (p.Phe1138LeufsTer10) c.2976del (p.Phe992LeufsTer10) n.4244del | |
3 | g.47000166T>A | CA352516845 | NBEAL2 | c.4067T>A (p.Phe1356Tyr) c.3965T>A (p.Phe1322Tyr) n.404T>A c.1960-30T>A c.539T>A (p.Phe180Tyr) c.3986T>A (p.Phe1329Tyr) c.4046T>A (p.Phe1349Tyr) c.3698T>A (p.Phe1233Tyr) c.3527T>A (p.Phe1176Tyr) c.3413T>A (p.Phe1138Tyr) c.2975T>A (p.Phe992Tyr) n.4243T>A | |
3 | g.47000166T>C | CA352516846 | NBEAL2 | c.4067T>C (p.Phe1356Ser) c.3965T>C (p.Phe1322Ser) n.404T>C c.1960-30T>C c.539T>C (p.Phe180Ser) c.3986T>C (p.Phe1329Ser) c.4046T>C (p.Phe1349Ser) c.3698T>C (p.Phe1233Ser) c.3527T>C (p.Phe1176Ser) c.3413T>C (p.Phe1138Ser) c.2975T>C (p.Phe992Ser) n.4243T>C | gnomAD v4 |
3 | g.47000166T>G | CA352516847 | NBEAL2 | c.4067T>G (p.Phe1356Cys) c.3965T>G (p.Phe1322Cys) n.404T>G c.1960-30T>G c.539T>G (p.Phe180Cys) c.3986T>G (p.Phe1329Cys) c.4046T>G (p.Phe1349Cys) c.3698T>G (p.Phe1233Cys) c.3527T>G (p.Phe1176Cys) c.3413T>G (p.Phe1138Cys) c.2975T>G (p.Phe992Cys) n.4243T>G | |
3 | g.47000167T>A | CA352516848 | NBEAL2 | c.4068T>A (p.Phe1356Leu) c.3966T>A (p.Phe1322Leu) n.405T>A c.1960-29T>A c.540T>A (p.Phe180Leu) c.3987T>A (p.Phe1329Leu) c.4047T>A (p.Phe1349Leu) c.3699T>A (p.Phe1233Leu) c.3528T>A (p.Phe1176Leu) c.3414T>A (p.Phe1138Leu) c.2976T>A (p.Phe992Leu) n.4244T>A | |
3 | g.47000167T>C | CA433598403 | NBEAL2 | c.4068T>C (p.Phe1356=) c.3966T>C (p.Phe1322=) n.405T>C c.1960-29T>C c.540T>C (p.Phe180=) c.3987T>C (p.Phe1329=) c.4047T>C (p.Phe1349=) c.3699T>C (p.Phe1233=) c.3528T>C (p.Phe1176=) c.3414T>C (p.Phe1138=) c.2976T>C (p.Phe992=) n.4244T>C | dbSNP |
3 | g.47000167T>G | CA352516849 | NBEAL2 | c.4068T>G (p.Phe1356Leu) c.3966T>G (p.Phe1322Leu) n.405T>G c.1960-29T>G c.540T>G (p.Phe180Leu) c.3987T>G (p.Phe1329Leu) c.4047T>G (p.Phe1349Leu) c.3699T>G (p.Phe1233Leu) c.3528T>G (p.Phe1176Leu) c.3414T>G (p.Phe1138Leu) c.2976T>G (p.Phe992Leu) n.4244T>G | gnomAD v4 |
3 | g.47000167T= | CA1362363050 | NBEAL2 | c.4068T= (p.Phe1356=) c.3966T= (p.Phe1322=) n.405T= c.1960-29T= c.540T= (p.Phe180=) c.3987T= (p.Phe1329=) c.4047T= (p.Phe1349=) c.3699T= (p.Phe1233=) c.3528T= (p.Phe1176=) c.3414T= (p.Phe1138=) c.2976T= (p.Phe992=) n.4244T= | |
3 | g.47000168G>A | CA352516850 | NBEAL2 | c.4069G>A (p.Asp1357Asn) c.3967G>A (p.Asp1323Asn) n.406G>A c.1960-28G>A c.541G>A (p.Asp181Asn) c.3988G>A (p.Asp1330Asn) c.4048G>A (p.Asp1350Asn) c.3700G>A (p.Asp1234Asn) c.3529G>A (p.Asp1177Asn) c.3415G>A (p.Asp1139Asn) c.2977G>A (p.Asp993Asn) n.4245G>A | |
3 | g.47000168G>C | CA352516851 | NBEAL2 | c.4069G>C (p.Asp1357His) c.3967G>C (p.Asp1323His) n.406G>C c.1960-28G>C c.541G>C (p.Asp181His) c.3988G>C (p.Asp1330His) c.4048G>C (p.Asp1350His) c.3700G>C (p.Asp1234His) c.3529G>C (p.Asp1177His) c.3415G>C (p.Asp1139His) c.2977G>C (p.Asp993His) n.4245G>C | |
3 | g.47000168G>T | CA352516852 | NBEAL2 | c.4069G>T (p.Asp1357Tyr) c.3967G>T (p.Asp1323Tyr) n.406G>T c.1960-28G>T c.541G>T (p.Asp181Tyr) c.3988G>T (p.Asp1330Tyr) c.4048G>T (p.Asp1350Tyr) c.3700G>T (p.Asp1234Tyr) c.3529G>T (p.Asp1177Tyr) c.3415G>T (p.Asp1139Tyr) c.2977G>T (p.Asp993Tyr) n.4245G>T | |
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.47000180dup | CA2841994378 | NBEAL2 | c.4081dup (p.Glu1361GlyfsTer4) c.3979dup (p.Glu1327GlyfsTer4) n.418dup c.1960-16dup c.553dup (p.Glu185GlyfsTer4) c.4000dup (p.Glu1334GlyfsTer4) c.4060dup (p.Glu1354GlyfsTer4) c.3712dup (p.Glu1238GlyfsTer4) c.3541dup (p.Glu1181GlyfsTer4) c.3427dup (p.Glu1143GlyfsTer4) c.2989dup (p.Glu997GlyfsTer4) n.4257dup | |
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 |
3 | g.47000183C>A | CA433598425 | NBEAL2 | c.4084C>A (p.Arg1362=) c.3982C>A (p.Arg1328=) n.421C>A c.1960-13C>A c.556C>A (p.Arg186=) c.4003C>A (p.Arg1335=) c.4063C>A (p.Arg1355=) c.3715C>A (p.Arg1239=) c.3544C>A (p.Arg1182=) c.3430C>A (p.Arg1144=) c.2992C>A (p.Arg998=) n.4260C>A | |
3 | g.47000183C= | CA1362363057 | NBEAL2 | c.4084C= (p.Arg1362=) c.3982C= (p.Arg1328=) n.421C= c.1960-13C= c.556C= (p.Arg186=) c.4003C= (p.Arg1335=) c.4063C= (p.Arg1355=) c.3715C= (p.Arg1239=) c.3544C= (p.Arg1182=) c.3430C= (p.Arg1144=) c.2992C= (p.Arg998=) n.4260C= | |
3 | g.47000183C>G | CA352516882 | NBEAL2 | c.4084C>G (p.Arg1362Gly) c.3982C>G (p.Arg1328Gly) n.421C>G c.1960-13C>G c.556C>G (p.Arg186Gly) c.4003C>G (p.Arg1335Gly) c.4063C>G (p.Arg1355Gly) c.3715C>G (p.Arg1239Gly) c.3544C>G (p.Arg1182Gly) c.3430C>G (p.Arg1144Gly) c.2992C>G (p.Arg998Gly) n.4260C>G | |
3 | g.47000183C>T | CA2361139 | NBEAL2 | c.4084C>T (p.Arg1362Trp) c.3982C>T (p.Arg1328Trp) n.421C>T c.1960-13C>T c.556C>T (p.Arg186Trp) c.4003C>T (p.Arg1335Trp) c.4063C>T (p.Arg1355Trp) c.3715C>T (p.Arg1239Trp) c.3544C>T (p.Arg1182Trp) c.3430C>T (p.Arg1144Trp) c.2992C>T (p.Arg998Trp) n.4260C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.47000184G>A | CA2361140 | NBEAL2 | c.4085G>A (p.Arg1362Gln) c.3983G>A (p.Arg1328Gln) n.422G>A c.1960-12G>A c.557G>A (p.Arg186Gln) c.4004G>A (p.Arg1335Gln) c.4064G>A (p.Arg1355Gln) c.3716G>A (p.Arg1239Gln) c.3545G>A (p.Arg1182Gln) c.3431G>A (p.Arg1144Gln) c.2993G>A (p.Arg998Gln) n.4261G>A | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
3 | g.47000184G>C | CA352516883 | NBEAL2 | c.4085G>C (p.Arg1362Pro) c.3983G>C (p.Arg1328Pro) n.422G>C c.1960-12G>C c.557G>C (p.Arg186Pro) c.4004G>C (p.Arg1335Pro) c.4064G>C (p.Arg1355Pro) c.3716G>C (p.Arg1239Pro) c.3545G>C (p.Arg1182Pro) c.3431G>C (p.Arg1144Pro) c.2993G>C (p.Arg998Pro) n.4261G>C | |
3 | g.47000184G= | CA1362363058 | NBEAL2 | c.4085G= (p.Arg1362=) c.3983G= (p.Arg1328=) n.422G= c.1960-12G= c.557G= (p.Arg186=) c.4004G= (p.Arg1335=) c.4064G= (p.Arg1355=) c.3716G= (p.Arg1239=) c.3545G= (p.Arg1182=) c.3431G= (p.Arg1144=) c.2993G= (p.Arg998=) n.4261G= | |
3 | g.47000184G>T | CA352516884 | NBEAL2 | c.4085G>T (p.Arg1362Leu) c.3983G>T (p.Arg1328Leu) n.422G>T c.1960-12G>T c.557G>T (p.Arg186Leu) c.4004G>T (p.Arg1335Leu) c.4064G>T (p.Arg1355Leu) c.3716G>T (p.Arg1239Leu) c.3545G>T (p.Arg1182Leu) c.3431G>T (p.Arg1144Leu) c.2993G>T (p.Arg998Leu) n.4261G>T | gnomAD v4 |
3 | g.47000184_47000188del | CA2665493244 | NBEAL2 | c.4085_4089del (p.Arg1362GlnfsTer?) c.3983_3987del (p.Arg1328GlnfsTer?) n.422_426del c.1960-12_1960-8del c.557_561del (p.Arg186GlnfsTer?) c.4004_4008del (p.Arg1335GlnfsTer?) c.4064_4068del (p.Arg1355GlnfsTer?) c.3716_3720del (p.Arg1239GlnfsTer?) c.3545_3549del (p.Arg1182GlnfsTer?) c.3431_3435del (p.Arg1144GlnfsTer?) c.2993_2997del (p.Arg998GlnfsTer?) n.4261_4265del | gnomAD v4 |
3 | g.47000185G>A | CA2361141 | NBEAL2 | c.4086G>A (p.Arg1362=) c.3984G>A (p.Arg1328=) n.423G>A c.1960-11G>A c.558G>A (p.Arg186=) c.4005G>A (p.Arg1335=) c.4065G>A (p.Arg1355=) c.3717G>A (p.Arg1239=) c.3546G>A (p.Arg1182=) c.3432G>A (p.Arg1144=) c.2994G>A (p.Arg998=) n.4262G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.47000185G>C | CA433598427 | NBEAL2 | c.4086G>C (p.Arg1362=) c.3984G>C (p.Arg1328=) n.423G>C c.1960-11G>C c.558G>C (p.Arg186=) c.4005G>C (p.Arg1335=) c.4065G>C (p.Arg1355=) c.3717G>C (p.Arg1239=) c.3546G>C (p.Arg1182=) c.3432G>C (p.Arg1144=) c.2994G>C (p.Arg998=) n.4262G>C | |
3 | g.47000185G= | CA1362363059 | NBEAL2 | c.4086G= (p.Arg1362=) c.3984G= (p.Arg1328=) n.423G= c.1960-11G= c.558G= (p.Arg186=) c.4005G= (p.Arg1335=) c.4065G= (p.Arg1355=) c.3717G= (p.Arg1239=) c.3546G= (p.Arg1182=) c.3432G= (p.Arg1144=) c.2994G= (p.Arg998=) n.4262G= | |
3 | g.47000185G>T | CA433598428 | NBEAL2 | c.4086G>T (p.Arg1362=) c.3984G>T (p.Arg1328=) n.423G>T c.1960-11G>T c.558G>T (p.Arg186=) c.4005G>T (p.Arg1335=) c.4065G>T (p.Arg1355=) c.3717G>T (p.Arg1239=) c.3546G>T (p.Arg1182=) c.3432G>T (p.Arg1144=) c.2994G>T (p.Arg998=) n.4262G>T |