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.46999929T>A | CA352515444 | NBEAL2 | c.3830T>A (p.Leu1277His) c.3728T>A (p.Leu1243His) n.167T>A c.1960-267T>A c.302T>A (p.Leu101His) c.3749T>A (p.Leu1250His) c.3809T>A (p.Leu1270His) c.3461T>A (p.Leu1154His) c.3290T>A (p.Leu1097His) c.3176T>A (p.Leu1059His) c.2738T>A (p.Leu913His) n.4006T>A | |
3 | g.46999929T>C | CA352515445 | NBEAL2 | c.3830T>C (p.Leu1277Pro) c.3728T>C (p.Leu1243Pro) n.167T>C c.1960-267T>C c.302T>C (p.Leu101Pro) c.3749T>C (p.Leu1250Pro) c.3809T>C (p.Leu1270Pro) c.3461T>C (p.Leu1154Pro) c.3290T>C (p.Leu1097Pro) c.3176T>C (p.Leu1059Pro) c.2738T>C (p.Leu913Pro) n.4006T>C | |
3 | g.46999929T>G | CA352515446 | NBEAL2 | c.3830T>G (p.Leu1277Arg) c.3728T>G (p.Leu1243Arg) n.167T>G c.1960-267T>G c.302T>G (p.Leu101Arg) c.3749T>G (p.Leu1250Arg) c.3809T>G (p.Leu1270Arg) c.3461T>G (p.Leu1154Arg) c.3290T>G (p.Leu1097Arg) c.3176T>G (p.Leu1059Arg) c.2738T>G (p.Leu913Arg) n.4006T>G | |
3 | g.46999930T>A | CA433477127 | NBEAL2 | c.3831T>A (p.Leu1277=) c.3729T>A (p.Leu1243=) n.168T>A c.1960-266T>A c.303T>A (p.Leu101=) c.3750T>A (p.Leu1250=) c.3810T>A (p.Leu1270=) c.3462T>A (p.Leu1154=) c.3291T>A (p.Leu1097=) c.3177T>A (p.Leu1059=) c.2739T>A (p.Leu913=) n.4007T>A | |
3 | g.46999930T>C | CA433477128 | NBEAL2 | c.3831T>C (p.Leu1277=) c.3729T>C (p.Leu1243=) n.168T>C c.1960-266T>C c.303T>C (p.Leu101=) c.3750T>C (p.Leu1250=) c.3810T>C (p.Leu1270=) c.3462T>C (p.Leu1154=) c.3291T>C (p.Leu1097=) c.3177T>C (p.Leu1059=) c.2739T>C (p.Leu913=) n.4007T>C | |
3 | g.46999930T>G | CA433477129 | NBEAL2 | c.3831T>G (p.Leu1277=) c.3729T>G (p.Leu1243=) n.168T>G c.1960-266T>G c.303T>G (p.Leu101=) c.3750T>G (p.Leu1250=) c.3810T>G (p.Leu1270=) c.3462T>G (p.Leu1154=) c.3291T>G (p.Leu1097=) c.3177T>G (p.Leu1059=) c.2739T>G (p.Leu913=) n.4007T>G | dbSNP |
3 | g.46999930T= | CA1362362931 | NBEAL2 | c.3831T= (p.Leu1277=) c.3729T= (p.Leu1243=) n.168T= c.1960-266T= c.303T= (p.Leu101=) c.3750T= (p.Leu1250=) c.3810T= (p.Leu1270=) c.3462T= (p.Leu1154=) c.3291T= (p.Leu1097=) c.3177T= (p.Leu1059=) c.2739T= (p.Leu913=) n.4007T= | |
3 | g.46999931C>A | CA352515447 | NBEAL2 | c.3832C>A (p.Leu1278Met) c.3730C>A (p.Leu1244Met) n.169C>A c.1960-265C>A c.304C>A (p.Leu102Met) c.3751C>A (p.Leu1251Met) c.3811C>A (p.Leu1271Met) c.3463C>A (p.Leu1155Met) c.3292C>A (p.Leu1098Met) c.3178C>A (p.Leu1060Met) c.2740C>A (p.Leu914Met) n.4008C>A | |
3 | g.46999931C>G | CA352515448 | NBEAL2 | c.3832C>G (p.Leu1278Val) c.3730C>G (p.Leu1244Val) n.169C>G c.1960-265C>G c.304C>G (p.Leu102Val) c.3751C>G (p.Leu1251Val) c.3811C>G (p.Leu1271Val) c.3463C>G (p.Leu1155Val) c.3292C>G (p.Leu1098Val) c.3178C>G (p.Leu1060Val) c.2740C>G (p.Leu914Val) n.4008C>G | |
3 | g.46999931C>T | CA433477130 | NBEAL2 | c.3832C>T (p.Leu1278=) c.3730C>T (p.Leu1244=) n.169C>T c.1960-265C>T c.304C>T (p.Leu102=) c.3751C>T (p.Leu1251=) c.3811C>T (p.Leu1271=) c.3463C>T (p.Leu1155=) c.3292C>T (p.Leu1098=) c.3178C>T (p.Leu1060=) c.2740C>T (p.Leu914=) n.4008C>T | gnomAD v4 |
3 | g.46999932T>A | CA352515449 | NBEAL2 | c.3833T>A (p.Leu1278Gln) c.3731T>A (p.Leu1244Gln) n.170T>A c.1960-264T>A c.305T>A (p.Leu102Gln) c.3752T>A (p.Leu1251Gln) c.3812T>A (p.Leu1271Gln) c.3464T>A (p.Leu1155Gln) c.3293T>A (p.Leu1098Gln) c.3179T>A (p.Leu1060Gln) c.2741T>A (p.Leu914Gln) n.4009T>A | |
3 | g.46999932T>C | CA352515450 | NBEAL2 | c.3833T>C (p.Leu1278Pro) c.3731T>C (p.Leu1244Pro) n.170T>C c.1960-264T>C c.305T>C (p.Leu102Pro) c.3752T>C (p.Leu1251Pro) c.3812T>C (p.Leu1271Pro) c.3464T>C (p.Leu1155Pro) c.3293T>C (p.Leu1098Pro) c.3179T>C (p.Leu1060Pro) c.2741T>C (p.Leu914Pro) n.4009T>C | |
3 | g.46999932T>G | CA352515451 | NBEAL2 | c.3833T>G (p.Leu1278Arg) c.3731T>G (p.Leu1244Arg) n.170T>G c.1960-264T>G c.305T>G (p.Leu102Arg) c.3752T>G (p.Leu1251Arg) c.3812T>G (p.Leu1271Arg) c.3464T>G (p.Leu1155Arg) c.3293T>G (p.Leu1098Arg) c.3179T>G (p.Leu1060Arg) c.2741T>G (p.Leu914Arg) n.4009T>G | |
3 | g.46999933G>A | CA433477131 | NBEAL2 | c.3834G>A (p.Leu1278=) c.3732G>A (p.Leu1244=) n.171G>A c.1960-263G>A c.306G>A (p.Leu102=) c.3753G>A (p.Leu1251=) c.3813G>A (p.Leu1271=) c.3465G>A (p.Leu1155=) c.3294G>A (p.Leu1098=) c.3180G>A (p.Leu1060=) c.2742G>A (p.Leu914=) n.4010G>A | |
3 | g.46999933G>C | CA433477132 | NBEAL2 | c.3834G>C (p.Leu1278=) c.3732G>C (p.Leu1244=) n.171G>C c.1960-263G>C c.306G>C (p.Leu102=) c.3753G>C (p.Leu1251=) c.3813G>C (p.Leu1271=) c.3465G>C (p.Leu1155=) c.3294G>C (p.Leu1098=) c.3180G>C (p.Leu1060=) c.2742G>C (p.Leu914=) n.4010G>C | |
3 | g.46999933G>T | CA433477133 | NBEAL2 | c.3834G>T (p.Leu1278=) c.3732G>T (p.Leu1244=) n.171G>T c.1960-263G>T c.306G>T (p.Leu102=) c.3753G>T (p.Leu1251=) c.3813G>T (p.Leu1271=) c.3465G>T (p.Leu1155=) c.3294G>T (p.Leu1098=) c.3180G>T (p.Leu1060=) c.2742G>T (p.Leu914=) n.4010G>T | gnomAD v4 |
3 | g.46999934G>A | CA352515452 | NBEAL2 | c.3835G>A (p.Ala1279Thr) c.3733G>A (p.Ala1245Thr) n.172G>A c.1960-262G>A c.307G>A (p.Ala103Thr) c.3754G>A (p.Ala1252Thr) c.3814G>A (p.Ala1272Thr) c.3466G>A (p.Ala1156Thr) c.3295G>A (p.Ala1099Thr) c.3181G>A (p.Ala1061Thr) c.2743G>A (p.Ala915Thr) n.4011G>A | |
3 | g.46999934G>C | CA352515453 | NBEAL2 | c.3835G>C (p.Ala1279Pro) c.3733G>C (p.Ala1245Pro) n.172G>C c.1960-262G>C c.307G>C (p.Ala103Pro) c.3754G>C (p.Ala1252Pro) c.3814G>C (p.Ala1272Pro) c.3466G>C (p.Ala1156Pro) c.3295G>C (p.Ala1099Pro) c.3181G>C (p.Ala1061Pro) c.2743G>C (p.Ala915Pro) n.4011G>C | |
3 | g.46999934G>T | CA352515454 | NBEAL2 | c.3835G>T (p.Ala1279Ser) c.3733G>T (p.Ala1245Ser) n.172G>T c.1960-262G>T c.307G>T (p.Ala103Ser) c.3754G>T (p.Ala1252Ser) c.3814G>T (p.Ala1272Ser) c.3466G>T (p.Ala1156Ser) c.3295G>T (p.Ala1099Ser) c.3181G>T (p.Ala1061Ser) c.2743G>T (p.Ala915Ser) n.4011G>T | gnomAD v4 |
3 | g.46999935C>A | CA352515456 | NBEAL2 | c.3836C>A (p.Ala1279Asp) c.3734C>A (p.Ala1245Asp) n.173C>A c.1960-261C>A c.308C>A (p.Ala103Asp) c.3755C>A (p.Ala1252Asp) c.3815C>A (p.Ala1272Asp) c.3467C>A (p.Ala1156Asp) c.3296C>A (p.Ala1099Asp) c.3182C>A (p.Ala1061Asp) c.2744C>A (p.Ala915Asp) n.4012C>A | |
3 | g.46999935C= | CA1362362932 | NBEAL2 | c.3836C= (p.Ala1279=) c.3734C= (p.Ala1245=) n.173C= c.1960-261C= c.308C= (p.Ala103=) c.3755C= (p.Ala1252=) c.3815C= (p.Ala1272=) c.3467C= (p.Ala1156=) c.3296C= (p.Ala1099=) c.3182C= (p.Ala1061=) c.2744C= (p.Ala915=) n.4012C= | |
3 | g.46999935C>G | CA352515455 | NBEAL2 | c.3836C>G (p.Ala1279Gly) c.3734C>G (p.Ala1245Gly) n.173C>G c.1960-261C>G c.308C>G (p.Ala103Gly) c.3755C>G (p.Ala1252Gly) c.3815C>G (p.Ala1272Gly) c.3467C>G (p.Ala1156Gly) c.3296C>G (p.Ala1099Gly) c.3182C>G (p.Ala1061Gly) c.2744C>G (p.Ala915Gly) n.4012C>G | |
3 | g.46999935C>T | CA73817487 | NBEAL2 | c.3836C>T (p.Ala1279Val) c.3734C>T (p.Ala1245Val) n.173C>T c.1960-261C>T c.308C>T (p.Ala103Val) c.3755C>T (p.Ala1252Val) c.3815C>T (p.Ala1272Val) c.3467C>T (p.Ala1156Val) c.3296C>T (p.Ala1099Val) c.3182C>T (p.Ala1061Val) c.2744C>T (p.Ala915Val) n.4012C>T | dbSNP gnomAD v2 gnomAD v4 |
3 | g.46999936C>A | CA433477134 | NBEAL2 | c.3837C>A (p.Ala1279=) c.3735C>A (p.Ala1245=) n.174C>A c.1960-260C>A c.309C>A (p.Ala103=) c.3756C>A (p.Ala1252=) c.3816C>A (p.Ala1272=) c.3468C>A (p.Ala1156=) c.3297C>A (p.Ala1099=) c.3183C>A (p.Ala1061=) c.2745C>A (p.Ala915=) n.4013C>A | |
3 | g.46999936C>G | CA433477135 | NBEAL2 | c.3837C>G (p.Ala1279=) c.3735C>G (p.Ala1245=) n.174C>G c.1960-260C>G c.309C>G (p.Ala103=) c.3756C>G (p.Ala1252=) c.3816C>G (p.Ala1272=) c.3468C>G (p.Ala1156=) c.3297C>G (p.Ala1099=) c.3183C>G (p.Ala1061=) c.2745C>G (p.Ala915=) n.4013C>G | |
3 | g.46999936C>T | CA433477136 | NBEAL2 | c.3837C>T (p.Ala1279=) c.3735C>T (p.Ala1245=) n.174C>T c.1960-260C>T c.309C>T (p.Ala103=) c.3756C>T (p.Ala1252=) c.3816C>T (p.Ala1272=) c.3468C>T (p.Ala1156=) c.3297C>T (p.Ala1099=) c.3183C>T (p.Ala1061=) c.2745C>T (p.Ala915=) n.4013C>T | |
3 | g.46999937C>A | CA433477137 | NBEAL2 | c.3838C>A (p.Arg1280=) c.3736C>A (p.Arg1246=) n.175C>A c.1960-259C>A c.310C>A (p.Arg104=) c.3757C>A (p.Arg1253=) c.3817C>A (p.Arg1273=) c.3469C>A (p.Arg1157=) c.3298C>A (p.Arg1100=) c.3184C>A (p.Arg1062=) c.2746C>A (p.Arg916=) n.4014C>A | |
3 | g.46999937C= | CA1362362933 | NBEAL2 | c.3838C= (p.Arg1280=) c.3736C= (p.Arg1246=) n.175C= c.1960-259C= c.310C= (p.Arg104=) c.3757C= (p.Arg1253=) c.3817C= (p.Arg1273=) c.3469C= (p.Arg1157=) c.3298C= (p.Arg1100=) c.3184C= (p.Arg1062=) c.2746C= (p.Arg916=) n.4014C= | |
3 | g.46999937C>G | CA352515457 | NBEAL2 | c.3838C>G (p.Arg1280Gly) c.3736C>G (p.Arg1246Gly) n.175C>G c.1960-259C>G c.310C>G (p.Arg104Gly) c.3757C>G (p.Arg1253Gly) c.3817C>G (p.Arg1273Gly) c.3469C>G (p.Arg1157Gly) c.3298C>G (p.Arg1100Gly) c.3184C>G (p.Arg1062Gly) c.2746C>G (p.Arg916Gly) n.4014C>G | dbSNP gnomAD v2 gnomAD v4 |
3 | g.46999937C>T | CA73817495 | NBEAL2 | c.3838C>T (p.Arg1280Ter) c.3736C>T (p.Arg1246Ter) n.175C>T c.1960-259C>T c.310C>T (p.Arg104Ter) c.3757C>T (p.Arg1253Ter) c.3817C>T (p.Arg1273Ter) c.3469C>T (p.Arg1157Ter) c.3298C>T (p.Arg1100Ter) c.3184C>T (p.Arg1062Ter) c.2746C>T (p.Arg916Ter) n.4014C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.46999938G>A | CA2361089 | NBEAL2 | c.3839G>A (p.Arg1280Gln) c.3737G>A (p.Arg1246Gln) n.176G>A c.1960-258G>A c.311G>A (p.Arg104Gln) c.3758G>A (p.Arg1253Gln) c.3818G>A (p.Arg1273Gln) c.3470G>A (p.Arg1157Gln) c.3299G>A (p.Arg1100Gln) c.3185G>A (p.Arg1062Gln) c.2747G>A (p.Arg916Gln) n.4015G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.46999938G>C | CA352515458 | NBEAL2 | c.3839G>C (p.Arg1280Pro) c.3737G>C (p.Arg1246Pro) n.176G>C c.1960-258G>C c.311G>C (p.Arg104Pro) c.3758G>C (p.Arg1253Pro) c.3818G>C (p.Arg1273Pro) c.3470G>C (p.Arg1157Pro) c.3299G>C (p.Arg1100Pro) c.3185G>C (p.Arg1062Pro) c.2747G>C (p.Arg916Pro) n.4015G>C | |
3 | g.46999938G= | CA1362362934 | NBEAL2 | c.3839G= (p.Arg1280=) c.3737G= (p.Arg1246=) n.176G= c.1960-258G= c.311G= (p.Arg104=) c.3758G= (p.Arg1253=) c.3818G= (p.Arg1273=) c.3470G= (p.Arg1157=) c.3299G= (p.Arg1100=) c.3185G= (p.Arg1062=) c.2747G= (p.Arg916=) n.4015G= | |
3 | g.46999938G>T | CA352515459 | NBEAL2 | c.3839G>T (p.Arg1280Leu) c.3737G>T (p.Arg1246Leu) n.176G>T c.1960-258G>T c.311G>T (p.Arg104Leu) c.3758G>T (p.Arg1253Leu) c.3818G>T (p.Arg1273Leu) c.3470G>T (p.Arg1157Leu) c.3299G>T (p.Arg1100Leu) c.3185G>T (p.Arg1062Leu) c.2747G>T (p.Arg916Leu) n.4015G>T | dbSNP gnomAD v2 gnomAD v4 |
3 | g.46999939A>C | CA433477138 | NBEAL2 | c.3840A>C (p.Arg1280=) c.3738A>C (p.Arg1246=) n.177A>C c.1960-257A>C c.312A>C (p.Arg104=) c.3759A>C (p.Arg1253=) c.3819A>C (p.Arg1273=) c.3471A>C (p.Arg1157=) c.3300A>C (p.Arg1100=) c.3186A>C (p.Arg1062=) c.2748A>C (p.Arg916=) n.4016A>C | |
3 | g.46999939A>G | CA433477140 | NBEAL2 | c.3840A>G (p.Arg1280=) c.3738A>G (p.Arg1246=) n.177A>G c.1960-257A>G c.312A>G (p.Arg104=) c.3759A>G (p.Arg1253=) c.3819A>G (p.Arg1273=) c.3471A>G (p.Arg1157=) c.3300A>G (p.Arg1100=) c.3186A>G (p.Arg1062=) c.2748A>G (p.Arg916=) n.4016A>G | |
3 | g.46999939A>T | CA433477139 | NBEAL2 | c.3840A>T (p.Arg1280=) c.3738A>T (p.Arg1246=) n.177A>T c.1960-257A>T c.312A>T (p.Arg104=) c.3759A>T (p.Arg1253=) c.3819A>T (p.Arg1273=) c.3471A>T (p.Arg1157=) c.3300A>T (p.Arg1100=) c.3186A>T (p.Arg1062=) c.2748A>T (p.Arg916=) n.4016A>T | |
3 | g.46999940C>A | CA352516198 | NBEAL2 | c.3841C>A (p.Gln1281Lys) c.3739C>A (p.Gln1247Lys) n.178C>A c.1960-256C>A c.313C>A (p.Gln105Lys) c.3760C>A (p.Gln1254Lys) c.3820C>A (p.Gln1274Lys) c.3472C>A (p.Gln1158Lys) c.3301C>A (p.Gln1101Lys) c.3187C>A (p.Gln1063Lys) c.2749C>A (p.Gln917Lys) n.4017C>A | |
3 | g.46999940C>G | CA352516199 | NBEAL2 | c.3841C>G (p.Gln1281Glu) c.3739C>G (p.Gln1247Glu) n.178C>G c.1960-256C>G c.313C>G (p.Gln105Glu) c.3760C>G (p.Gln1254Glu) c.3820C>G (p.Gln1274Glu) c.3472C>G (p.Gln1158Glu) c.3301C>G (p.Gln1101Glu) c.3187C>G (p.Gln1063Glu) c.2749C>G (p.Gln917Glu) n.4017C>G | gnomAD v4 |
3 | g.46999940C>T | CA352516200 | NBEAL2 | c.3841C>T (p.Gln1281Ter) c.3739C>T (p.Gln1247Ter) n.178C>T c.1960-256C>T c.313C>T (p.Gln105Ter) c.3760C>T (p.Gln1254Ter) c.3820C>T (p.Gln1274Ter) c.3472C>T (p.Gln1158Ter) c.3301C>T (p.Gln1101Ter) c.3187C>T (p.Gln1063Ter) c.2749C>T (p.Gln917Ter) n.4017C>T | |
3 | g.46999941A>C | CA352516203 | NBEAL2 | c.3842A>C (p.Gln1281Pro) c.3740A>C (p.Gln1247Pro) n.179A>C c.1960-255A>C c.314A>C (p.Gln105Pro) c.3761A>C (p.Gln1254Pro) c.3821A>C (p.Gln1274Pro) c.3473A>C (p.Gln1158Pro) c.3302A>C (p.Gln1101Pro) c.3188A>C (p.Gln1063Pro) c.2750A>C (p.Gln917Pro) n.4018A>C | |
3 | g.46999941A>G | CA352516201 | NBEAL2 | c.3842A>G (p.Gln1281Arg) c.3740A>G (p.Gln1247Arg) n.179A>G c.1960-255A>G c.314A>G (p.Gln105Arg) c.3761A>G (p.Gln1254Arg) c.3821A>G (p.Gln1274Arg) c.3473A>G (p.Gln1158Arg) c.3302A>G (p.Gln1101Arg) c.3188A>G (p.Gln1063Arg) c.2750A>G (p.Gln917Arg) n.4018A>G | |
3 | g.46999941A>T | CA352516202 | NBEAL2 | c.3842A>T (p.Gln1281Leu) c.3740A>T (p.Gln1247Leu) n.179A>T c.1960-255A>T c.314A>T (p.Gln105Leu) c.3761A>T (p.Gln1254Leu) c.3821A>T (p.Gln1274Leu) c.3473A>T (p.Gln1158Leu) c.3302A>T (p.Gln1101Leu) c.3188A>T (p.Gln1063Leu) c.2750A>T (p.Gln917Leu) n.4018A>T | |
3 | g.46999942G>A | CA73817510 | NBEAL2 | c.3843G>A (p.Gln1281=) c.3741G>A (p.Gln1247=) n.180G>A c.1960-254G>A c.315G>A (p.Gln105=) c.3762G>A (p.Gln1254=) c.3822G>A (p.Gln1274=) c.3474G>A (p.Gln1158=) c.3303G>A (p.Gln1101=) c.3189G>A (p.Gln1063=) c.2751G>A (p.Gln917=) n.4019G>A | dbSNP gnomAD v4 |
3 | g.46999942G>C | CA352516204 | NBEAL2 | c.3843G>C (p.Gln1281His) c.3741G>C (p.Gln1247His) n.180G>C c.1960-254G>C c.315G>C (p.Gln105His) c.3762G>C (p.Gln1254His) c.3822G>C (p.Gln1274His) c.3474G>C (p.Gln1158His) c.3303G>C (p.Gln1101His) c.3189G>C (p.Gln1063His) c.2751G>C (p.Gln917His) n.4019G>C | gnomAD v4 |
3 | g.46999942G= | CA1362362935 | NBEAL2 | c.3843G= (p.Gln1281=) c.3741G= (p.Gln1247=) n.180G= c.1960-254G= c.315G= (p.Gln105=) c.3762G= (p.Gln1254=) c.3822G= (p.Gln1274=) c.3474G= (p.Gln1158=) c.3303G= (p.Gln1101=) c.3189G= (p.Gln1063=) c.2751G= (p.Gln917=) n.4019G= | |
3 | g.46999942G>T | CA352516205 | NBEAL2 | c.3843G>T (p.Gln1281His) c.3741G>T (p.Gln1247His) n.180G>T c.1960-254G>T c.315G>T (p.Gln105His) c.3762G>T (p.Gln1254His) c.3822G>T (p.Gln1274His) c.3474G>T (p.Gln1158His) c.3303G>T (p.Gln1101His) c.3189G>T (p.Gln1063His) c.2751G>T (p.Gln917His) n.4019G>T | |
3 | g.46999943G>A | CA352516206 | NBEAL2 | c.3844G>A (p.Ala1282Thr) c.3742G>A (p.Ala1248Thr) n.181G>A c.1960-253G>A c.316G>A (p.Ala106Thr) c.3763G>A (p.Ala1255Thr) c.3823G>A (p.Ala1275Thr) c.3475G>A (p.Ala1159Thr) c.3304G>A (p.Ala1102Thr) c.3190G>A (p.Ala1064Thr) c.2752G>A (p.Ala918Thr) n.4020G>A | |
3 | g.46999943G>C | CA352516207 | NBEAL2 | c.3844G>C (p.Ala1282Pro) c.3742G>C (p.Ala1248Pro) n.181G>C c.1960-253G>C c.316G>C (p.Ala106Pro) c.3763G>C (p.Ala1255Pro) c.3823G>C (p.Ala1275Pro) c.3475G>C (p.Ala1159Pro) c.3304G>C (p.Ala1102Pro) c.3190G>C (p.Ala1064Pro) c.2752G>C (p.Ala918Pro) n.4020G>C | dbSNP gnomAD v4 |
3 | g.46999943G= | CA1362362936 | NBEAL2 | c.3844G= (p.Ala1282=) c.3742G= (p.Ala1248=) n.181G= c.1960-253G= c.316G= (p.Ala106=) c.3763G= (p.Ala1255=) c.3823G= (p.Ala1275=) c.3475G= (p.Ala1159=) c.3304G= (p.Ala1102=) c.3190G= (p.Ala1064=) c.2752G= (p.Ala918=) n.4020G= | |
3 | g.46999943G>T | CA352516208 | NBEAL2 | c.3844G>T (p.Ala1282Ser) c.3742G>T (p.Ala1248Ser) n.181G>T c.1960-253G>T c.316G>T (p.Ala106Ser) c.3763G>T (p.Ala1255Ser) c.3823G>T (p.Ala1275Ser) c.3475G>T (p.Ala1159Ser) c.3304G>T (p.Ala1102Ser) c.3190G>T (p.Ala1064Ser) c.2752G>T (p.Ala918Ser) n.4020G>T | |
3 | g.46999944C>A | CA352516209 | NBEAL2 | c.3845C>A (p.Ala1282Asp) c.3743C>A (p.Ala1248Asp) n.182C>A c.1960-252C>A c.317C>A (p.Ala106Asp) c.3764C>A (p.Ala1255Asp) c.3824C>A (p.Ala1275Asp) c.3476C>A (p.Ala1159Asp) c.3305C>A (p.Ala1102Asp) c.3191C>A (p.Ala1064Asp) c.2753C>A (p.Ala918Asp) n.4021C>A | |
3 | g.46999944C>G | CA352516211 | NBEAL2 | c.3845C>G (p.Ala1282Gly) c.3743C>G (p.Ala1248Gly) n.182C>G c.1960-252C>G c.317C>G (p.Ala106Gly) c.3764C>G (p.Ala1255Gly) c.3824C>G (p.Ala1275Gly) c.3476C>G (p.Ala1159Gly) c.3305C>G (p.Ala1102Gly) c.3191C>G (p.Ala1064Gly) c.2753C>G (p.Ala918Gly) n.4021C>G | |
3 | g.46999944C>T | CA352516210 | NBEAL2 | c.3845C>T (p.Ala1282Val) c.3743C>T (p.Ala1248Val) n.182C>T c.1960-252C>T c.317C>T (p.Ala106Val) c.3764C>T (p.Ala1255Val) c.3824C>T (p.Ala1275Val) c.3476C>T (p.Ala1159Val) c.3305C>T (p.Ala1102Val) c.3191C>T (p.Ala1064Val) c.2753C>T (p.Ala918Val) n.4021C>T | |
3 | g.46999945T>A | CA433598069 | NBEAL2 | c.3846T>A (p.Ala1282=) c.3744T>A (p.Ala1248=) n.183T>A c.1960-251T>A c.318T>A (p.Ala106=) c.3765T>A (p.Ala1255=) c.3825T>A (p.Ala1275=) c.3477T>A (p.Ala1159=) c.3306T>A (p.Ala1102=) c.3192T>A (p.Ala1064=) c.2754T>A (p.Ala918=) n.4022T>A | |
3 | g.46999945T>C | CA433598071 | NBEAL2 | c.3846T>C (p.Ala1282=) c.3744T>C (p.Ala1248=) n.183T>C c.1960-251T>C c.318T>C (p.Ala106=) c.3765T>C (p.Ala1255=) c.3825T>C (p.Ala1275=) c.3477T>C (p.Ala1159=) c.3306T>C (p.Ala1102=) c.3192T>C (p.Ala1064=) c.2754T>C (p.Ala918=) n.4022T>C | gnomAD v4 |
3 | g.46999945T>G | CA433598070 | NBEAL2 | c.3846T>G (p.Ala1282=) c.3744T>G (p.Ala1248=) n.183T>G c.1960-251T>G c.318T>G (p.Ala106=) c.3765T>G (p.Ala1255=) c.3825T>G (p.Ala1275=) c.3477T>G (p.Ala1159=) c.3306T>G (p.Ala1102=) c.3192T>G (p.Ala1064=) c.2754T>G (p.Ala918=) n.4022T>G | |
3 | g.46999946G>A | CA352516212 | NBEAL2 | c.3847G>A (p.Gly1283Ser) c.3745G>A (p.Gly1249Ser) n.184G>A c.1960-250G>A c.319G>A (p.Gly107Ser) c.3766G>A (p.Gly1256Ser) c.3826G>A (p.Gly1276Ser) c.3478G>A (p.Gly1160Ser) c.3307G>A (p.Gly1103Ser) c.3193G>A (p.Gly1065Ser) c.2755G>A (p.Gly919Ser) n.4023G>A | dbSNP gnomAD v2 gnomAD v4 |
3 | g.46999946G>C | CA352516213 | NBEAL2 | c.3847G>C (p.Gly1283Arg) c.3745G>C (p.Gly1249Arg) n.184G>C c.1960-250G>C c.319G>C (p.Gly107Arg) c.3766G>C (p.Gly1256Arg) c.3826G>C (p.Gly1276Arg) c.3478G>C (p.Gly1160Arg) c.3307G>C (p.Gly1103Arg) c.3193G>C (p.Gly1065Arg) c.2755G>C (p.Gly919Arg) n.4023G>C | |
3 | g.46999946G= | CA1362362937 | NBEAL2 | c.3847G= (p.Gly1283=) c.3745G= (p.Gly1249=) n.184G= c.1960-250G= c.319G= (p.Gly107=) c.3766G= (p.Gly1256=) c.3826G= (p.Gly1276=) c.3478G= (p.Gly1160=) c.3307G= (p.Gly1103=) c.3193G= (p.Gly1065=) c.2755G= (p.Gly919=) n.4023G= | |
3 | g.46999946G>T | CA352516214 | NBEAL2 | c.3847G>T (p.Gly1283Cys) c.3745G>T (p.Gly1249Cys) n.184G>T c.1960-250G>T c.319G>T (p.Gly107Cys) c.3766G>T (p.Gly1256Cys) c.3826G>T (p.Gly1276Cys) c.3478G>T (p.Gly1160Cys) c.3307G>T (p.Gly1103Cys) c.3193G>T (p.Gly1065Cys) c.2755G>T (p.Gly919Cys) n.4023G>T | |
3 | g.46999947G>A | CA352516215 | NBEAL2 | c.3848G>A (p.Gly1283Asp) c.3746G>A (p.Gly1249Asp) n.185G>A c.1960-249G>A c.320G>A (p.Gly107Asp) c.3767G>A (p.Gly1256Asp) c.3827G>A (p.Gly1276Asp) c.3479G>A (p.Gly1160Asp) c.3308G>A (p.Gly1103Asp) c.3194G>A (p.Gly1065Asp) c.2756G>A (p.Gly919Asp) n.4024G>A | gnomAD v4 |
3 | g.46999947G>C | CA352516216 | NBEAL2 | c.3848G>C (p.Gly1283Ala) c.3746G>C (p.Gly1249Ala) n.185G>C c.1960-249G>C c.320G>C (p.Gly107Ala) c.3767G>C (p.Gly1256Ala) c.3827G>C (p.Gly1276Ala) c.3479G>C (p.Gly1160Ala) c.3308G>C (p.Gly1103Ala) c.3194G>C (p.Gly1065Ala) c.2756G>C (p.Gly919Ala) n.4024G>C | |
3 | g.46999947G= | CA1362362938 | NBEAL2 | c.3848G= (p.Gly1283=) c.3746G= (p.Gly1249=) n.185G= c.1960-249G= c.320G= (p.Gly107=) c.3767G= (p.Gly1256=) c.3827G= (p.Gly1276=) c.3479G= (p.Gly1160=) c.3308G= (p.Gly1103=) c.3194G= (p.Gly1065=) c.2756G= (p.Gly919=) n.4024G= | |
3 | g.46999947G>T | CA2361090 | NBEAL2 | c.3848G>T (p.Gly1283Val) c.3746G>T (p.Gly1249Val) n.185G>T c.1960-249G>T c.320G>T (p.Gly107Val) c.3767G>T (p.Gly1256Val) c.3827G>T (p.Gly1276Val) c.3479G>T (p.Gly1160Val) c.3308G>T (p.Gly1103Val) c.3194G>T (p.Gly1065Val) c.2756G>T (p.Gly919Val) n.4024G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.46999948C>A | CA433598078 | NBEAL2 | c.3849C>A (p.Gly1283=) c.3747C>A (p.Gly1249=) n.186C>A c.1960-248C>A c.321C>A (p.Gly107=) c.3768C>A (p.Gly1256=) c.3828C>A (p.Gly1276=) c.3480C>A (p.Gly1160=) c.3309C>A (p.Gly1103=) c.3195C>A (p.Gly1065=) c.2757C>A (p.Gly919=) n.4025C>A | |
3 | g.46999948C>G | CA433598083 | NBEAL2 | c.3849C>G (p.Gly1283=) c.3747C>G (p.Gly1249=) n.186C>G c.1960-248C>G c.321C>G (p.Gly107=) c.3768C>G (p.Gly1256=) c.3828C>G (p.Gly1276=) c.3480C>G (p.Gly1160=) c.3309C>G (p.Gly1103=) c.3195C>G (p.Gly1065=) c.2757C>G (p.Gly919=) n.4025C>G | |
3 | g.46999948C>T | CA433598085 | NBEAL2 | c.3849C>T (p.Gly1283=) c.3747C>T (p.Gly1249=) n.186C>T c.1960-248C>T c.321C>T (p.Gly107=) c.3768C>T (p.Gly1256=) c.3828C>T (p.Gly1276=) c.3480C>T (p.Gly1160=) c.3309C>T (p.Gly1103=) c.3195C>T (p.Gly1065=) c.2757C>T (p.Gly919=) n.4025C>T | gnomAD v4 |
3 | g.46999949T>A | CA352516217 | NBEAL2 | c.3850T>A (p.Trp1284Arg) c.3748T>A (p.Trp1250Arg) n.187T>A c.1960-247T>A c.322T>A (p.Trp108Arg) c.3769T>A (p.Trp1257Arg) c.3829T>A (p.Trp1277Arg) c.3481T>A (p.Trp1161Arg) c.3310T>A (p.Trp1104Arg) c.3196T>A (p.Trp1066Arg) c.2758T>A (p.Trp920Arg) n.4026T>A | gnomAD v4 |
3 | g.46999949T>C | CA352516218 | NBEAL2 | c.3850T>C (p.Trp1284Arg) c.3748T>C (p.Trp1250Arg) n.187T>C c.1960-247T>C c.322T>C (p.Trp108Arg) c.3769T>C (p.Trp1257Arg) c.3829T>C (p.Trp1277Arg) c.3481T>C (p.Trp1161Arg) c.3310T>C (p.Trp1104Arg) c.3196T>C (p.Trp1066Arg) c.2758T>C (p.Trp920Arg) n.4026T>C | |
3 | g.46999949T>G | CA352516219 | NBEAL2 | c.3850T>G (p.Trp1284Gly) c.3748T>G (p.Trp1250Gly) n.187T>G c.1960-247T>G c.322T>G (p.Trp108Gly) c.3769T>G (p.Trp1257Gly) c.3829T>G (p.Trp1277Gly) c.3481T>G (p.Trp1161Gly) c.3310T>G (p.Trp1104Gly) c.3196T>G (p.Trp1066Gly) c.2758T>G (p.Trp920Gly) n.4026T>G | gnomAD v4 |
3 | g.46999950G>A | CA352516220 | NBEAL2 | c.3851G>A (p.Trp1284Ter) c.3749G>A (p.Trp1250Ter) n.188G>A c.1960-246G>A c.323G>A (p.Trp108Ter) c.3770G>A (p.Trp1257Ter) c.3830G>A (p.Trp1277Ter) c.3482G>A (p.Trp1161Ter) c.3311G>A (p.Trp1104Ter) c.3197G>A (p.Trp1066Ter) c.2759G>A (p.Trp920Ter) n.4027G>A | |
3 | g.46999950G>C | CA352516221 | NBEAL2 | c.3851G>C (p.Trp1284Ser) c.3749G>C (p.Trp1250Ser) n.188G>C c.1960-246G>C c.323G>C (p.Trp108Ser) c.3770G>C (p.Trp1257Ser) c.3830G>C (p.Trp1277Ser) c.3482G>C (p.Trp1161Ser) c.3311G>C (p.Trp1104Ser) c.3197G>C (p.Trp1066Ser) c.2759G>C (p.Trp920Ser) n.4027G>C | |
3 | g.46999950G>T | CA352516222 | NBEAL2 | c.3851G>T (p.Trp1284Leu) c.3749G>T (p.Trp1250Leu) n.188G>T c.1960-246G>T c.323G>T (p.Trp108Leu) c.3770G>T (p.Trp1257Leu) c.3830G>T (p.Trp1277Leu) c.3482G>T (p.Trp1161Leu) c.3311G>T (p.Trp1104Leu) c.3197G>T (p.Trp1066Leu) c.2759G>T (p.Trp920Leu) n.4027G>T | |
3 | g.46999950_46999953dup | CA2665493215 | NBEAL2 | c.3851_3854dup (p.Asp1286AlafsTer?) c.3749_3752dup (p.Asp1252AlafsTer?) n.188_191dup c.1960-246_1960-243dup c.323_326dup (p.Asp110AlafsTer?) c.3770_3773dup (p.Asp1259AlafsTer?) c.3830_3833dup (p.Asp1279AlafsTer?) c.3482_3485dup (p.Asp1163AlafsTer?) c.3311_3314dup (p.Asp1106AlafsTer?) c.3197_3200dup (p.Asp1068AlafsTer?) c.2759_2762dup (p.Asp922AlafsTer?) n.4027_4030dup | gnomAD v4 |
3 | g.46999951G>A | CA352516223 | NBEAL2 | c.3852G>A (p.Trp1284Ter) c.3750G>A (p.Trp1250Ter) n.189G>A c.1960-245G>A c.324G>A (p.Trp108Ter) c.3771G>A (p.Trp1257Ter) c.3831G>A (p.Trp1277Ter) c.3483G>A (p.Trp1161Ter) c.3312G>A (p.Trp1104Ter) c.3198G>A (p.Trp1066Ter) c.2760G>A (p.Trp920Ter) n.4028G>A | gnomAD v4 |
3 | g.46999951G>C | CA352516225 | NBEAL2 | c.3852G>C (p.Trp1284Cys) c.3750G>C (p.Trp1250Cys) n.189G>C c.1960-245G>C c.324G>C (p.Trp108Cys) c.3771G>C (p.Trp1257Cys) c.3831G>C (p.Trp1277Cys) c.3483G>C (p.Trp1161Cys) c.3312G>C (p.Trp1104Cys) c.3198G>C (p.Trp1066Cys) c.2760G>C (p.Trp920Cys) n.4028G>C | |
3 | g.46999951G>T | CA352516224 | NBEAL2 | c.3852G>T (p.Trp1284Cys) c.3750G>T (p.Trp1250Cys) n.189G>T c.1960-245G>T c.324G>T (p.Trp108Cys) c.3771G>T (p.Trp1257Cys) c.3831G>T (p.Trp1277Cys) c.3483G>T (p.Trp1161Cys) c.3312G>T (p.Trp1104Cys) c.3198G>T (p.Trp1066Cys) c.2760G>T (p.Trp920Cys) n.4028G>T | gnomAD v4 |
3 | g.46999952C>A | CA352516226 | NBEAL2 | c.3853C>A (p.Gln1285Lys) c.3751C>A (p.Gln1251Lys) n.190C>A c.1960-244C>A c.325C>A (p.Gln109Lys) c.3772C>A (p.Gln1258Lys) c.3832C>A (p.Gln1278Lys) c.3484C>A (p.Gln1162Lys) c.3313C>A (p.Gln1105Lys) c.3199C>A (p.Gln1067Lys) c.2761C>A (p.Gln921Lys) n.4029C>A | |
3 | g.46999952C>G | CA352516227 | NBEAL2 | c.3853C>G (p.Gln1285Glu) c.3751C>G (p.Gln1251Glu) n.190C>G c.1960-244C>G c.325C>G (p.Gln109Glu) c.3772C>G (p.Gln1258Glu) c.3832C>G (p.Gln1278Glu) c.3484C>G (p.Gln1162Glu) c.3313C>G (p.Gln1105Glu) c.3199C>G (p.Gln1067Glu) c.2761C>G (p.Gln921Glu) n.4029C>G | |
3 | g.46999952C>T | CA352516228 | NBEAL2 | c.3853C>T (p.Gln1285Ter) c.3751C>T (p.Gln1251Ter) n.190C>T c.1960-244C>T c.325C>T (p.Gln109Ter) c.3772C>T (p.Gln1258Ter) c.3832C>T (p.Gln1278Ter) c.3484C>T (p.Gln1162Ter) c.3313C>T (p.Gln1105Ter) c.3199C>T (p.Gln1067Ter) c.2761C>T (p.Gln921Ter) n.4029C>T | |
3 | g.46999953A>C | CA352516229 | NBEAL2 | c.3854A>C (p.Gln1285Pro) c.3752A>C (p.Gln1251Pro) n.191A>C c.1960-243A>C c.326A>C (p.Gln109Pro) c.3773A>C (p.Gln1258Pro) c.3833A>C (p.Gln1278Pro) c.3485A>C (p.Gln1162Pro) c.3314A>C (p.Gln1105Pro) c.3200A>C (p.Gln1067Pro) c.2762A>C (p.Gln921Pro) n.4030A>C | |
3 | g.46999953A>G | CA352516230 | NBEAL2 | c.3854A>G (p.Gln1285Arg) c.3752A>G (p.Gln1251Arg) n.191A>G c.1960-243A>G c.326A>G (p.Gln109Arg) c.3773A>G (p.Gln1258Arg) c.3833A>G (p.Gln1278Arg) c.3485A>G (p.Gln1162Arg) c.3314A>G (p.Gln1105Arg) c.3200A>G (p.Gln1067Arg) c.2762A>G (p.Gln921Arg) n.4030A>G | |
3 | g.46999953A>T | CA352516231 | NBEAL2 | c.3854A>T (p.Gln1285Leu) c.3752A>T (p.Gln1251Leu) n.191A>T c.1960-243A>T c.326A>T (p.Gln109Leu) c.3773A>T (p.Gln1258Leu) c.3833A>T (p.Gln1278Leu) c.3485A>T (p.Gln1162Leu) c.3314A>T (p.Gln1105Leu) c.3200A>T (p.Gln1067Leu) c.2762A>T (p.Gln921Leu) n.4030A>T | |
3 | g.46999954A>C | CA352516232 | NBEAL2 | c.3855A>C (p.Gln1285His) c.3753A>C (p.Gln1251His) n.192A>C c.1960-242A>C c.327A>C (p.Gln109His) c.3774A>C (p.Gln1258His) c.3834A>C (p.Gln1278His) c.3486A>C (p.Gln1162His) c.3315A>C (p.Gln1105His) c.3201A>C (p.Gln1067His) c.2763A>C (p.Gln921His) n.4031A>C | |
3 | g.46999954A>G | CA433598097 | NBEAL2 | c.3855A>G (p.Gln1285=) c.3753A>G (p.Gln1251=) n.192A>G c.1960-242A>G c.327A>G (p.Gln109=) c.3774A>G (p.Gln1258=) c.3834A>G (p.Gln1278=) c.3486A>G (p.Gln1162=) c.3315A>G (p.Gln1105=) c.3201A>G (p.Gln1067=) c.2763A>G (p.Gln921=) n.4031A>G | gnomAD v4 |
3 | g.46999954A>T | CA352516233 | NBEAL2 | c.3855A>T (p.Gln1285His) c.3753A>T (p.Gln1251His) n.192A>T c.1960-242A>T c.327A>T (p.Gln109His) c.3774A>T (p.Gln1258His) c.3834A>T (p.Gln1278His) c.3486A>T (p.Gln1162His) c.3315A>T (p.Gln1105His) c.3201A>T (p.Gln1067His) c.2763A>T (p.Gln921His) n.4031A>T | |
3 | g.46999955G>A | CA352516234 | NBEAL2 | c.3856G>A (p.Asp1286Asn) c.3754G>A (p.Asp1252Asn) n.193G>A c.1960-241G>A c.328G>A (p.Asp110Asn) c.3775G>A (p.Asp1259Asn) c.3835G>A (p.Asp1279Asn) c.3487G>A (p.Asp1163Asn) c.3316G>A (p.Asp1106Asn) c.3202G>A (p.Asp1068Asn) c.2764G>A (p.Asp922Asn) n.4032G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.46999955G>C | CA352516235 | NBEAL2 | c.3856G>C (p.Asp1286His) c.3754G>C (p.Asp1252His) n.193G>C c.1960-241G>C c.328G>C (p.Asp110His) c.3775G>C (p.Asp1259His) c.3835G>C (p.Asp1279His) c.3487G>C (p.Asp1163His) c.3316G>C (p.Asp1106His) c.3202G>C (p.Asp1068His) c.2764G>C (p.Asp922His) n.4032G>C | |
3 | g.46999955G= | CA1362362939 | NBEAL2 | c.3856G= (p.Asp1286=) c.3754G= (p.Asp1252=) n.193G= c.1960-241G= c.328G= (p.Asp110=) c.3775G= (p.Asp1259=) c.3835G= (p.Asp1279=) c.3487G= (p.Asp1163=) c.3316G= (p.Asp1106=) c.3202G= (p.Asp1068=) c.2764G= (p.Asp922=) n.4032G= | |
3 | g.46999955G>T | CA352516236 | NBEAL2 | c.3856G>T (p.Asp1286Tyr) c.3754G>T (p.Asp1252Tyr) n.193G>T c.1960-241G>T c.328G>T (p.Asp110Tyr) c.3775G>T (p.Asp1259Tyr) c.3835G>T (p.Asp1279Tyr) c.3487G>T (p.Asp1163Tyr) c.3316G>T (p.Asp1106Tyr) c.3202G>T (p.Asp1068Tyr) c.2764G>T (p.Asp922Tyr) n.4032G>T | gnomAD v4 |
3 | g.46999956A= | CA1362362940 | NBEAL2 | c.3857A= (p.Asp1286=) c.3755A= (p.Asp1252=) n.194A= c.1960-240A= c.329A= (p.Asp110=) c.3776A= (p.Asp1259=) c.3836A= (p.Asp1279=) c.3488A= (p.Asp1163=) c.3317A= (p.Asp1106=) c.3203A= (p.Asp1068=) c.2765A= (p.Asp922=) n.4033A= | |
3 | g.46999956A>C | CA352516237 | NBEAL2 | c.3857A>C (p.Asp1286Ala) c.3755A>C (p.Asp1252Ala) n.194A>C c.1960-240A>C c.329A>C (p.Asp110Ala) c.3776A>C (p.Asp1259Ala) c.3836A>C (p.Asp1279Ala) c.3488A>C (p.Asp1163Ala) c.3317A>C (p.Asp1106Ala) c.3203A>C (p.Asp1068Ala) c.2765A>C (p.Asp922Ala) n.4033A>C | |
3 | g.46999956A>G | CA352516238 | NBEAL2 | c.3857A>G (p.Asp1286Gly) c.3755A>G (p.Asp1252Gly) n.194A>G c.1960-240A>G c.329A>G (p.Asp110Gly) c.3776A>G (p.Asp1259Gly) c.3836A>G (p.Asp1279Gly) c.3488A>G (p.Asp1163Gly) c.3317A>G (p.Asp1106Gly) c.3203A>G (p.Asp1068Gly) c.2765A>G (p.Asp922Gly) n.4033A>G | |
3 | g.46999956A>T | CA352516239 | NBEAL2 | c.3857A>T (p.Asp1286Val) c.3755A>T (p.Asp1252Val) n.194A>T c.1960-240A>T c.329A>T (p.Asp110Val) c.3776A>T (p.Asp1259Val) c.3836A>T (p.Asp1279Val) c.3488A>T (p.Asp1163Val) c.3317A>T (p.Asp1106Val) c.3203A>T (p.Asp1068Val) c.2765A>T (p.Asp922Val) n.4033A>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.46999957T>A | CA352516240 | NBEAL2 | c.3858T>A (p.Asp1286Glu) c.3756T>A (p.Asp1252Glu) n.195T>A c.1960-239T>A c.330T>A (p.Asp110Glu) c.3777T>A (p.Asp1259Glu) c.3837T>A (p.Asp1279Glu) c.3489T>A (p.Asp1163Glu) c.3318T>A (p.Asp1106Glu) c.3204T>A (p.Asp1068Glu) c.2766T>A (p.Asp922Glu) n.4034T>A | |
3 | g.46999957T>C | CA433598105 | NBEAL2 | c.3858T>C (p.Asp1286=) c.3756T>C (p.Asp1252=) n.195T>C c.1960-239T>C c.330T>C (p.Asp110=) c.3777T>C (p.Asp1259=) c.3837T>C (p.Asp1279=) c.3489T>C (p.Asp1163=) c.3318T>C (p.Asp1106=) c.3204T>C (p.Asp1068=) c.2766T>C (p.Asp922=) n.4034T>C | dbSNP gnomAD v2 gnomAD v4 |
3 | g.46999957T>G | CA352516241 | NBEAL2 | c.3858T>G (p.Asp1286Glu) c.3756T>G (p.Asp1252Glu) n.195T>G c.1960-239T>G c.330T>G (p.Asp110Glu) c.3777T>G (p.Asp1259Glu) c.3837T>G (p.Asp1279Glu) c.3489T>G (p.Asp1163Glu) c.3318T>G (p.Asp1106Glu) c.3204T>G (p.Asp1068Glu) c.2766T>G (p.Asp922Glu) n.4034T>G | |
3 | g.46999957T= | CA1362362941 | NBEAL2 | c.3858T= (p.Asp1286=) c.3756T= (p.Asp1252=) n.195T= c.1960-239T= c.330T= (p.Asp110=) c.3777T= (p.Asp1259=) c.3837T= (p.Asp1279=) c.3489T= (p.Asp1163=) c.3318T= (p.Asp1106=) c.3204T= (p.Asp1068=) c.2766T= (p.Asp922=) n.4034T= | |
3 | g.46999958G>A | CA2361091 | NBEAL2 | c.3859G>A (p.Val1287Met) c.3757G>A (p.Val1253Met) n.196G>A c.1960-238G>A c.331G>A (p.Val111Met) c.3778G>A (p.Val1260Met) c.3838G>A (p.Val1280Met) c.3490G>A (p.Val1164Met) c.3319G>A (p.Val1107Met) c.3205G>A (p.Val1069Met) c.2767G>A (p.Val923Met) n.4035G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.46999958G>C | CA352516242 | NBEAL2 | c.3859G>C (p.Val1287Leu) c.3757G>C (p.Val1253Leu) n.196G>C c.1960-238G>C c.331G>C (p.Val111Leu) c.3778G>C (p.Val1260Leu) c.3838G>C (p.Val1280Leu) c.3490G>C (p.Val1164Leu) c.3319G>C (p.Val1107Leu) c.3205G>C (p.Val1069Leu) c.2767G>C (p.Val923Leu) n.4035G>C | |
3 | g.46999958G= | CA1362362942 | NBEAL2 | c.3859G= (p.Val1287=) c.3757G= (p.Val1253=) n.196G= c.1960-238G= c.331G= (p.Val111=) c.3778G= (p.Val1260=) c.3838G= (p.Val1280=) c.3490G= (p.Val1164=) c.3319G= (p.Val1107=) c.3205G= (p.Val1069=) c.2767G= (p.Val923=) n.4035G= | |
3 | g.46999958G>T | CA352516243 | NBEAL2 | c.3859G>T (p.Val1287Leu) c.3757G>T (p.Val1253Leu) n.196G>T c.1960-238G>T c.331G>T (p.Val111Leu) c.3778G>T (p.Val1260Leu) c.3838G>T (p.Val1280Leu) c.3490G>T (p.Val1164Leu) c.3319G>T (p.Val1107Leu) c.3205G>T (p.Val1069Leu) c.2767G>T (p.Val923Leu) n.4035G>T | |
3 | g.46999959T>A | CA352516244 | NBEAL2 | c.3860T>A (p.Val1287Glu) c.3758T>A (p.Val1253Glu) n.197T>A c.1960-237T>A c.332T>A (p.Val111Glu) c.3779T>A (p.Val1260Glu) c.3839T>A (p.Val1280Glu) c.3491T>A (p.Val1164Glu) c.3320T>A (p.Val1107Glu) c.3206T>A (p.Val1069Glu) c.2768T>A (p.Val923Glu) n.4036T>A | gnomAD v4 |
3 | g.46999959T>C | CA352516245 | NBEAL2 | c.3860T>C (p.Val1287Ala) c.3758T>C (p.Val1253Ala) n.197T>C c.1960-237T>C c.332T>C (p.Val111Ala) c.3779T>C (p.Val1260Ala) c.3839T>C (p.Val1280Ala) c.3491T>C (p.Val1164Ala) c.3320T>C (p.Val1107Ala) c.3206T>C (p.Val1069Ala) c.2768T>C (p.Val923Ala) n.4036T>C | |
3 | g.46999959T>G | CA352516246 | NBEAL2 | c.3860T>G (p.Val1287Gly) c.3758T>G (p.Val1253Gly) n.197T>G c.1960-237T>G c.332T>G (p.Val111Gly) c.3779T>G (p.Val1260Gly) c.3839T>G (p.Val1280Gly) c.3491T>G (p.Val1164Gly) c.3320T>G (p.Val1107Gly) c.3206T>G (p.Val1069Gly) c.2768T>G (p.Val923Gly) n.4036T>G | |
3 | g.46999960G>A | CA433598109 | NBEAL2 | c.3861G>A (p.Val1287=) c.3759G>A (p.Val1253=) n.198G>A c.1960-236G>A c.333G>A (p.Val111=) c.3780G>A (p.Val1260=) c.3840G>A (p.Val1280=) c.3492G>A (p.Val1164=) c.3321G>A (p.Val1107=) c.3207G>A (p.Val1069=) c.2769G>A (p.Val923=) n.4037G>A | |
3 | g.46999960G>C | CA433598113 | NBEAL2 | c.3861G>C (p.Val1287=) c.3759G>C (p.Val1253=) n.198G>C c.1960-236G>C c.333G>C (p.Val111=) c.3780G>C (p.Val1260=) c.3840G>C (p.Val1280=) c.3492G>C (p.Val1164=) c.3321G>C (p.Val1107=) c.3207G>C (p.Val1069=) c.2769G>C (p.Val923=) n.4037G>C | |
3 | g.46999960G>T | CA433598110 | NBEAL2 | c.3861G>T (p.Val1287=) c.3759G>T (p.Val1253=) n.198G>T c.1960-236G>T c.333G>T (p.Val111=) c.3780G>T (p.Val1260=) c.3840G>T (p.Val1280=) c.3492G>T (p.Val1164=) c.3321G>T (p.Val1107=) c.3207G>T (p.Val1069=) c.2769G>T (p.Val923=) n.4037G>T | |
3 | g.46999961C>A | CA352516247 | NBEAL2 | c.3862C>A (p.Leu1288Met) c.3760C>A (p.Leu1254Met) n.199C>A c.1960-235C>A c.334C>A (p.Leu112Met) c.3781C>A (p.Leu1261Met) c.3841C>A (p.Leu1281Met) c.3493C>A (p.Leu1165Met) c.3322C>A (p.Leu1108Met) c.3208C>A (p.Leu1070Met) c.2770C>A (p.Leu924Met) n.4038C>A | |
3 | g.46999961C= | CA1362362943 | NBEAL2 | c.3862C= (p.Leu1288=) c.3760C= (p.Leu1254=) n.199C= c.1960-235C= c.334C= (p.Leu112=) c.3781C= (p.Leu1261=) c.3841C= (p.Leu1281=) c.3493C= (p.Leu1165=) c.3322C= (p.Leu1108=) c.3208C= (p.Leu1070=) c.2770C= (p.Leu924=) n.4038C= | |
3 | g.46999961C>G | CA73817520 | NBEAL2 | c.3862C>G (p.Leu1288Val) c.3760C>G (p.Leu1254Val) n.199C>G c.1960-235C>G c.334C>G (p.Leu112Val) c.3781C>G (p.Leu1261Val) c.3841C>G (p.Leu1281Val) c.3493C>G (p.Leu1165Val) c.3322C>G (p.Leu1108Val) c.3208C>G (p.Leu1070Val) c.2770C>G (p.Leu924Val) n.4038C>G | dbSNP |
3 | g.46999961C>T | CA433598117 | NBEAL2 | c.3862C>T (p.Leu1288=) c.3760C>T (p.Leu1254=) n.199C>T c.1960-235C>T c.334C>T (p.Leu112=) c.3781C>T (p.Leu1261=) c.3841C>T (p.Leu1281=) c.3493C>T (p.Leu1165=) c.3322C>T (p.Leu1108=) c.3208C>T (p.Leu1070=) c.2770C>T (p.Leu924=) n.4038C>T | gnomAD v4 |
3 | g.46999962T>A | CA352516248 | NBEAL2 | c.3863T>A (p.Leu1288Gln) c.3761T>A (p.Leu1254Gln) n.200T>A c.1960-234T>A c.335T>A (p.Leu112Gln) c.3782T>A (p.Leu1261Gln) c.3842T>A (p.Leu1281Gln) c.3494T>A (p.Leu1165Gln) c.3323T>A (p.Leu1108Gln) c.3209T>A (p.Leu1070Gln) c.2771T>A (p.Leu924Gln) n.4039T>A | |
3 | g.46999962T>C | CA352516249 | NBEAL2 | c.3863T>C (p.Leu1288Pro) c.3761T>C (p.Leu1254Pro) n.200T>C c.1960-234T>C c.335T>C (p.Leu112Pro) c.3782T>C (p.Leu1261Pro) c.3842T>C (p.Leu1281Pro) c.3494T>C (p.Leu1165Pro) c.3323T>C (p.Leu1108Pro) c.3209T>C (p.Leu1070Pro) c.2771T>C (p.Leu924Pro) n.4039T>C | dbSNP |
3 | g.46999962T>G | CA352516250 | NBEAL2 | c.3863T>G (p.Leu1288Arg) c.3761T>G (p.Leu1254Arg) n.200T>G c.1960-234T>G c.335T>G (p.Leu112Arg) c.3782T>G (p.Leu1261Arg) c.3842T>G (p.Leu1281Arg) c.3494T>G (p.Leu1165Arg) c.3323T>G (p.Leu1108Arg) c.3209T>G (p.Leu1070Arg) c.2771T>G (p.Leu924Arg) n.4039T>G | |
3 | g.46999962T= | CA1362362944 | NBEAL2 | c.3863T= (p.Leu1288=) c.3761T= (p.Leu1254=) n.200T= c.1960-234T= c.335T= (p.Leu112=) c.3782T= (p.Leu1261=) c.3842T= (p.Leu1281=) c.3494T= (p.Leu1165=) c.3323T= (p.Leu1108=) c.3209T= (p.Leu1070=) c.2771T= (p.Leu924=) n.4039T= | |
3 | g.46999963G>A | CA2361092 | NBEAL2 | c.3864G>A (p.Leu1288=) c.3762G>A (p.Leu1254=) n.201G>A c.1960-233G>A c.336G>A (p.Leu112=) c.3783G>A (p.Leu1261=) c.3843G>A (p.Leu1281=) c.3495G>A (p.Leu1165=) c.3324G>A (p.Leu1108=) c.3210G>A (p.Leu1070=) c.2772G>A (p.Leu924=) n.4040G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.46999963G>C | CA433598122 | NBEAL2 | c.3864G>C (p.Leu1288=) c.3762G>C (p.Leu1254=) n.201G>C c.1960-233G>C c.336G>C (p.Leu112=) c.3783G>C (p.Leu1261=) c.3843G>C (p.Leu1281=) c.3495G>C (p.Leu1165=) c.3324G>C (p.Leu1108=) c.3210G>C (p.Leu1070=) c.2772G>C (p.Leu924=) n.4040G>C | |
3 | g.46999963G= | CA1362362945 | NBEAL2 | c.3864G= (p.Leu1288=) c.3762G= (p.Leu1254=) n.201G= c.1960-233G= c.336G= (p.Leu112=) c.3783G= (p.Leu1261=) c.3843G= (p.Leu1281=) c.3495G= (p.Leu1165=) c.3324G= (p.Leu1108=) c.3210G= (p.Leu1070=) c.2772G= (p.Leu924=) n.4040G= | |
3 | g.46999963G>T | CA433598128 | NBEAL2 | c.3864G>T (p.Leu1288=) c.3762G>T (p.Leu1254=) n.201G>T c.1960-233G>T c.336G>T (p.Leu112=) c.3783G>T (p.Leu1261=) c.3843G>T (p.Leu1281=) c.3495G>T (p.Leu1165=) c.3324G>T (p.Leu1108=) c.3210G>T (p.Leu1070=) c.2772G>T (p.Leu924=) n.4040G>T | |
3 | g.46999964A= | CA1362362946 | NBEAL2 | c.3865A= (p.Thr1289=) c.3763A= (p.Thr1255=) n.202A= c.1960-232A= c.337A= (p.Thr113=) c.3784A= (p.Thr1262=) c.3844A= (p.Thr1282=) c.3496A= (p.Thr1166=) c.3325A= (p.Thr1109=) c.3211A= (p.Thr1071=) c.2773A= (p.Thr925=) n.4041A= | |
3 | g.46999964A>C | CA352516251 | NBEAL2 | c.3865A>C (p.Thr1289Pro) c.3763A>C (p.Thr1255Pro) n.202A>C c.1960-232A>C c.337A>C (p.Thr113Pro) c.3784A>C (p.Thr1262Pro) c.3844A>C (p.Thr1282Pro) c.3496A>C (p.Thr1166Pro) c.3325A>C (p.Thr1109Pro) c.3211A>C (p.Thr1071Pro) c.2773A>C (p.Thr925Pro) n.4041A>C | dbSNP |
3 | g.46999964A>G | CA352516253 | NBEAL2 | c.3865A>G (p.Thr1289Ala) c.3763A>G (p.Thr1255Ala) n.202A>G c.1960-232A>G c.337A>G (p.Thr113Ala) c.3784A>G (p.Thr1262Ala) c.3844A>G (p.Thr1282Ala) c.3496A>G (p.Thr1166Ala) c.3325A>G (p.Thr1109Ala) c.3211A>G (p.Thr1071Ala) c.2773A>G (p.Thr925Ala) n.4041A>G | dbSNP gnomAD v2 gnomAD v4 COSMIC |
3 | g.46999964A>T | CA352516252 | NBEAL2 | c.3865A>T (p.Thr1289Ser) c.3763A>T (p.Thr1255Ser) n.202A>T c.1960-232A>T c.337A>T (p.Thr113Ser) c.3784A>T (p.Thr1262Ser) c.3844A>T (p.Thr1282Ser) c.3496A>T (p.Thr1166Ser) c.3325A>T (p.Thr1109Ser) c.3211A>T (p.Thr1071Ser) c.2773A>T (p.Thr925Ser) n.4041A>T | |
3 | g.46999965C>A | CA352516254 | NBEAL2 | c.3866C>A (p.Thr1289Asn) c.3764C>A (p.Thr1255Asn) n.203C>A c.1960-231C>A c.338C>A (p.Thr113Asn) c.3785C>A (p.Thr1262Asn) c.3845C>A (p.Thr1282Asn) c.3497C>A (p.Thr1166Asn) c.3326C>A (p.Thr1109Asn) c.3212C>A (p.Thr1071Asn) c.2774C>A (p.Thr925Asn) n.4042C>A | dbSNP gnomAD v2 gnomAD v4 |
3 | g.46999965C= | CA1362362947 | NBEAL2 | c.3866C= (p.Thr1289=) c.3764C= (p.Thr1255=) n.203C= c.1960-231C= c.338C= (p.Thr113=) c.3785C= (p.Thr1262=) c.3845C= (p.Thr1282=) c.3497C= (p.Thr1166=) c.3326C= (p.Thr1109=) c.3212C= (p.Thr1071=) c.2774C= (p.Thr925=) n.4042C= | |
3 | g.46999965C>G | CA352516255 | NBEAL2 | c.3866C>G (p.Thr1289Ser) c.3764C>G (p.Thr1255Ser) n.203C>G c.1960-231C>G c.338C>G (p.Thr113Ser) c.3785C>G (p.Thr1262Ser) c.3845C>G (p.Thr1282Ser) c.3497C>G (p.Thr1166Ser) c.3326C>G (p.Thr1109Ser) c.3212C>G (p.Thr1071Ser) c.2774C>G (p.Thr925Ser) n.4042C>G | dbSNP |
3 | g.46999965C>T | CA2361093 | NBEAL2 | c.3866C>T (p.Thr1289Ile) c.3764C>T (p.Thr1255Ile) n.203C>T c.1960-231C>T c.338C>T (p.Thr113Ile) c.3785C>T (p.Thr1262Ile) c.3845C>T (p.Thr1282Ile) c.3497C>T (p.Thr1166Ile) c.3326C>T (p.Thr1109Ile) c.3212C>T (p.Thr1071Ile) c.2774C>T (p.Thr925Ile) n.4042C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.46999966C>A | CA433598129 | NBEAL2 | c.3867C>A (p.Thr1289=) c.3765C>A (p.Thr1255=) n.204C>A c.1960-230C>A c.339C>A (p.Thr113=) c.3786C>A (p.Thr1262=) c.3846C>A (p.Thr1282=) c.3498C>A (p.Thr1166=) c.3327C>A (p.Thr1109=) c.3213C>A (p.Thr1071=) c.2775C>A (p.Thr925=) n.4043C>A | |
3 | g.46999966C>G | CA433598133 | NBEAL2 | c.3867C>G (p.Thr1289=) c.3765C>G (p.Thr1255=) n.204C>G c.1960-230C>G c.339C>G (p.Thr113=) c.3786C>G (p.Thr1262=) c.3846C>G (p.Thr1282=) c.3498C>G (p.Thr1166=) c.3327C>G (p.Thr1109=) c.3213C>G (p.Thr1071=) c.2775C>G (p.Thr925=) n.4043C>G | gnomAD v4 |
3 | g.46999966C>T | CA433598131 | NBEAL2 | c.3867C>T (p.Thr1289=) c.3765C>T (p.Thr1255=) n.204C>T c.1960-230C>T c.339C>T (p.Thr113=) c.3786C>T (p.Thr1262=) c.3846C>T (p.Thr1282=) c.3498C>T (p.Thr1166=) c.3327C>T (p.Thr1109=) c.3213C>T (p.Thr1071=) c.2775C>T (p.Thr925=) n.4043C>T | gnomAD v4 |
3 | g.46999967C>A | CA433598135 | NBEAL2 | c.3868C>A (p.Arg1290=) c.3766C>A (p.Arg1256=) n.205C>A c.1960-229C>A c.340C>A (p.Arg114=) c.3787C>A (p.Arg1263=) c.3847C>A (p.Arg1283=) c.3499C>A (p.Arg1167=) c.3328C>A (p.Arg1110=) c.3214C>A (p.Arg1072=) c.2776C>A (p.Arg926=) n.4044C>A | |
3 | g.46999967C= | CA1362362948 | NBEAL2 | c.3868C= (p.Arg1290=) c.3766C= (p.Arg1256=) n.205C= c.1960-229C= c.340C= (p.Arg114=) c.3787C= (p.Arg1263=) c.3847C= (p.Arg1283=) c.3499C= (p.Arg1167=) c.3328C= (p.Arg1110=) c.3214C= (p.Arg1072=) c.2776C= (p.Arg926=) n.4044C= | |
3 | g.46999967C>G | CA352516256 | NBEAL2 | c.3868C>G (p.Arg1290Gly) c.3766C>G (p.Arg1256Gly) n.205C>G c.1960-229C>G c.340C>G (p.Arg114Gly) c.3787C>G (p.Arg1263Gly) c.3847C>G (p.Arg1283Gly) c.3499C>G (p.Arg1167Gly) c.3328C>G (p.Arg1110Gly) c.3214C>G (p.Arg1072Gly) c.2776C>G (p.Arg926Gly) n.4044C>G | |
3 | g.46999967C>T | CA352516257 | NBEAL2 | c.3868C>T (p.Arg1290Trp) c.3766C>T (p.Arg1256Trp) n.205C>T c.1960-229C>T c.340C>T (p.Arg114Trp) c.3787C>T (p.Arg1263Trp) c.3847C>T (p.Arg1283Trp) c.3499C>T (p.Arg1167Trp) c.3328C>T (p.Arg1110Trp) c.3214C>T (p.Arg1072Trp) c.2776C>T (p.Arg926Trp) n.4044C>T | dbSNP gnomAD v2 gnomAD v4 COSMIC |
3 | g.46999968G>A | CA2361094 | NBEAL2 | c.3869G>A (p.Arg1290Gln) c.3767G>A (p.Arg1256Gln) n.206G>A c.1960-228G>A c.341G>A (p.Arg114Gln) c.3788G>A (p.Arg1263Gln) c.3848G>A (p.Arg1283Gln) c.3500G>A (p.Arg1167Gln) c.3329G>A (p.Arg1110Gln) c.3215G>A (p.Arg1072Gln) c.2777G>A (p.Arg926Gln) n.4045G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.46999968G>C | CA352516258 | NBEAL2 | c.3869G>C (p.Arg1290Pro) c.3767G>C (p.Arg1256Pro) n.206G>C c.1960-228G>C c.341G>C (p.Arg114Pro) c.3788G>C (p.Arg1263Pro) c.3848G>C (p.Arg1283Pro) c.3500G>C (p.Arg1167Pro) c.3329G>C (p.Arg1110Pro) c.3215G>C (p.Arg1072Pro) c.2777G>C (p.Arg926Pro) n.4045G>C | |
3 | g.46999968G= | CA1362362949 | NBEAL2 | c.3869G= (p.Arg1290=) c.3767G= (p.Arg1256=) n.206G= c.1960-228G= c.341G= (p.Arg114=) c.3788G= (p.Arg1263=) c.3848G= (p.Arg1283=) c.3500G= (p.Arg1167=) c.3329G= (p.Arg1110=) c.3215G= (p.Arg1072=) c.2777G= (p.Arg926=) n.4045G= | |
3 | g.46999968G>T | CA352516259 | NBEAL2 | c.3869G>T (p.Arg1290Leu) c.3767G>T (p.Arg1256Leu) n.206G>T c.1960-228G>T c.341G>T (p.Arg114Leu) c.3788G>T (p.Arg1263Leu) c.3848G>T (p.Arg1283Leu) c.3500G>T (p.Arg1167Leu) c.3329G>T (p.Arg1110Leu) c.3215G>T (p.Arg1072Leu) c.2777G>T (p.Arg926Leu) n.4045G>T | |
3 | g.46999969G>A | CA433598136 | NBEAL2 | c.3870G>A (p.Arg1290=) c.3768G>A (p.Arg1256=) n.207G>A c.1960-227G>A c.342G>A (p.Arg114=) c.3789G>A (p.Arg1263=) c.3849G>A (p.Arg1283=) c.3501G>A (p.Arg1167=) c.3330G>A (p.Arg1110=) c.3216G>A (p.Arg1072=) c.2778G>A (p.Arg926=) n.4046G>A | dbSNP gnomAD v2 gnomAD v4 |
3 | g.46999969G>C | CA433598137 | NBEAL2 | c.3870G>C (p.Arg1290=) c.3768G>C (p.Arg1256=) n.207G>C c.1960-227G>C c.342G>C (p.Arg114=) c.3789G>C (p.Arg1263=) c.3849G>C (p.Arg1283=) c.3501G>C (p.Arg1167=) c.3330G>C (p.Arg1110=) c.3216G>C (p.Arg1072=) c.2778G>C (p.Arg926=) n.4046G>C | |
3 | g.46999969G= | CA1362362950 | NBEAL2 | c.3870G= (p.Arg1290=) c.3768G= (p.Arg1256=) n.207G= c.1960-227G= c.342G= (p.Arg114=) c.3789G= (p.Arg1263=) c.3849G= (p.Arg1283=) c.3501G= (p.Arg1167=) c.3330G= (p.Arg1110=) c.3216G= (p.Arg1072=) c.2778G= (p.Arg926=) n.4046G= | |
3 | g.46999969G>T | CA433598138 | NBEAL2 | c.3870G>T (p.Arg1290=) c.3768G>T (p.Arg1256=) n.207G>T c.1960-227G>T c.342G>T (p.Arg114=) c.3789G>T (p.Arg1263=) c.3849G>T (p.Arg1283=) c.3501G>T (p.Arg1167=) c.3330G>T (p.Arg1110=) c.3216G>T (p.Arg1072=) c.2778G>T (p.Arg926=) n.4046G>T | |
3 | g.46999970C>A | CA352516260 | NBEAL2 | c.3871C>A (p.Leu1291Ile) c.3769C>A (p.Leu1257Ile) n.208C>A c.1960-226C>A c.343C>A (p.Leu115Ile) c.3790C>A (p.Leu1264Ile) c.3850C>A (p.Leu1284Ile) c.3502C>A (p.Leu1168Ile) c.3331C>A (p.Leu1111Ile) c.3217C>A (p.Leu1073Ile) c.2779C>A (p.Leu927Ile) n.4047C>A | |
3 | g.46999970C= | CA1362362951 | NBEAL2 | c.3871C= (p.Leu1291=) c.3769C= (p.Leu1257=) n.208C= c.1960-226C= c.343C= (p.Leu115=) c.3790C= (p.Leu1264=) c.3850C= (p.Leu1284=) c.3502C= (p.Leu1168=) c.3331C= (p.Leu1111=) c.3217C= (p.Leu1073=) c.2779C= (p.Leu927=) n.4047C= | |
3 | g.46999970C>G | CA2361095 | NBEAL2 | c.3871C>G (p.Leu1291Val) c.3769C>G (p.Leu1257Val) n.208C>G c.1960-226C>G c.343C>G (p.Leu115Val) c.3790C>G (p.Leu1264Val) c.3850C>G (p.Leu1284Val) c.3502C>G (p.Leu1168Val) c.3331C>G (p.Leu1111Val) c.3217C>G (p.Leu1073Val) c.2779C>G (p.Leu927Val) n.4047C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.46999970C>T | CA433598139 | NBEAL2 | c.3871C>T (p.Leu1291=) c.3769C>T (p.Leu1257=) n.208C>T c.1960-226C>T c.343C>T (p.Leu115=) c.3790C>T (p.Leu1264=) c.3850C>T (p.Leu1284=) c.3502C>T (p.Leu1168=) c.3331C>T (p.Leu1111=) c.3217C>T (p.Leu1073=) c.2779C>T (p.Leu927=) n.4047C>T | |
3 | g.46999971T>A | CA352516261 | NBEAL2 | c.3872T>A (p.Leu1291Gln) c.3770T>A (p.Leu1257Gln) n.209T>A c.1960-225T>A c.344T>A (p.Leu115Gln) c.3791T>A (p.Leu1264Gln) c.3851T>A (p.Leu1284Gln) c.3503T>A (p.Leu1168Gln) c.3332T>A (p.Leu1111Gln) c.3218T>A (p.Leu1073Gln) c.2780T>A (p.Leu927Gln) n.4048T>A | |
3 | g.46999971T>C | CA352516262 | NBEAL2 | c.3872T>C (p.Leu1291Pro) c.3770T>C (p.Leu1257Pro) n.209T>C c.1960-225T>C c.344T>C (p.Leu115Pro) c.3791T>C (p.Leu1264Pro) c.3851T>C (p.Leu1284Pro) c.3503T>C (p.Leu1168Pro) c.3332T>C (p.Leu1111Pro) c.3218T>C (p.Leu1073Pro) c.2780T>C (p.Leu927Pro) n.4048T>C | gnomAD v4 |
3 | g.46999971T>G | CA352516263 | NBEAL2 | c.3872T>G (p.Leu1291Arg) c.3770T>G (p.Leu1257Arg) n.209T>G c.1960-225T>G c.344T>G (p.Leu115Arg) c.3791T>G (p.Leu1264Arg) c.3851T>G (p.Leu1284Arg) c.3503T>G (p.Leu1168Arg) c.3332T>G (p.Leu1111Arg) c.3218T>G (p.Leu1073Arg) c.2780T>G (p.Leu927Arg) n.4048T>G | |
3 | g.46999972A= | CA1362362952 | NBEAL2 | c.3873A= (p.Leu1291=) c.3771A= (p.Leu1257=) n.210A= c.1960-224A= c.345A= (p.Leu115=) c.3792A= (p.Leu1264=) c.3852A= (p.Leu1284=) c.3504A= (p.Leu1168=) c.3333A= (p.Leu1111=) c.3219A= (p.Leu1073=) c.2781A= (p.Leu927=) n.4049A= | |
3 | g.46999972A>C | CA433598144 | NBEAL2 | c.3873A>C (p.Leu1291=) c.3771A>C (p.Leu1257=) n.210A>C c.1960-224A>C c.345A>C (p.Leu115=) c.3792A>C (p.Leu1264=) c.3852A>C (p.Leu1284=) c.3504A>C (p.Leu1168=) c.3333A>C (p.Leu1111=) c.3219A>C (p.Leu1073=) c.2781A>C (p.Leu927=) n.4049A>C | |
3 | g.46999972A>G | CA433598145 | NBEAL2 | c.3873A>G (p.Leu1291=) c.3771A>G (p.Leu1257=) n.210A>G c.1960-224A>G c.345A>G (p.Leu115=) c.3792A>G (p.Leu1264=) c.3852A>G (p.Leu1284=) c.3504A>G (p.Leu1168=) c.3333A>G (p.Leu1111=) c.3219A>G (p.Leu1073=) c.2781A>G (p.Leu927=) n.4049A>G | dbSNP gnomAD v2 gnomAD v4 |
3 | g.46999972A>T | CA433598146 | NBEAL2 | c.3873A>T (p.Leu1291=) c.3771A>T (p.Leu1257=) n.210A>T c.1960-224A>T c.345A>T (p.Leu115=) c.3792A>T (p.Leu1264=) c.3852A>T (p.Leu1284=) c.3504A>T (p.Leu1168=) c.3333A>T (p.Leu1111=) c.3219A>T (p.Leu1073=) c.2781A>T (p.Leu927=) n.4049A>T | |
3 | g.46999973T>A | CA352516264 | NBEAL2 | c.3874T>A (p.Tyr1292Asn) c.3772T>A (p.Tyr1258Asn) n.211T>A c.1960-223T>A c.346T>A (p.Tyr116Asn) c.3793T>A (p.Tyr1265Asn) c.3853T>A (p.Tyr1285Asn) c.3505T>A (p.Tyr1169Asn) c.3334T>A (p.Tyr1112Asn) c.3220T>A (p.Tyr1074Asn) c.2782T>A (p.Tyr928Asn) n.4050T>A | |
3 | g.46999973T>C | CA352516265 | NBEAL2 | c.3874T>C (p.Tyr1292His) c.3772T>C (p.Tyr1258His) n.211T>C c.1960-223T>C c.346T>C (p.Tyr116His) c.3793T>C (p.Tyr1265His) c.3853T>C (p.Tyr1285His) c.3505T>C (p.Tyr1169His) c.3334T>C (p.Tyr1112His) c.3220T>C (p.Tyr1074His) c.2782T>C (p.Tyr928His) n.4050T>C | |
3 | g.46999973T>G | CA352516266 | NBEAL2 | c.3874T>G (p.Tyr1292Asp) c.3772T>G (p.Tyr1258Asp) n.211T>G c.1960-223T>G c.346T>G (p.Tyr116Asp) c.3793T>G (p.Tyr1265Asp) c.3853T>G (p.Tyr1285Asp) c.3505T>G (p.Tyr1169Asp) c.3334T>G (p.Tyr1112Asp) c.3220T>G (p.Tyr1074Asp) c.2782T>G (p.Tyr928Asp) n.4050T>G | |
3 | g.46999974A= | CA1362362953 | NBEAL2 | c.3875A= (p.Tyr1292=) c.3773A= (p.Tyr1258=) n.212A= c.1960-222A= c.347A= (p.Tyr116=) c.3794A= (p.Tyr1265=) c.3854A= (p.Tyr1285=) c.3506A= (p.Tyr1169=) c.3335A= (p.Tyr1112=) c.3221A= (p.Tyr1074=) c.2783A= (p.Tyr928=) n.4051A= | |
3 | g.46999974A>C | CA352516267 | NBEAL2 | c.3875A>C (p.Tyr1292Ser) c.3773A>C (p.Tyr1258Ser) n.212A>C c.1960-222A>C c.347A>C (p.Tyr116Ser) c.3794A>C (p.Tyr1265Ser) c.3854A>C (p.Tyr1285Ser) c.3506A>C (p.Tyr1169Ser) c.3335A>C (p.Tyr1112Ser) c.3221A>C (p.Tyr1074Ser) c.2783A>C (p.Tyr928Ser) n.4051A>C | |
3 | g.46999974A>G | CA73817541 | NBEAL2 | c.3875A>G (p.Tyr1292Cys) c.3773A>G (p.Tyr1258Cys) n.212A>G c.1960-222A>G c.347A>G (p.Tyr116Cys) c.3794A>G (p.Tyr1265Cys) c.3854A>G (p.Tyr1285Cys) c.3506A>G (p.Tyr1169Cys) c.3335A>G (p.Tyr1112Cys) c.3221A>G (p.Tyr1074Cys) c.2783A>G (p.Tyr928Cys) n.4051A>G | dbSNP gnomAD v3 gnomAD v4 |
3 | g.46999974A>T | CA352516268 | NBEAL2 | c.3875A>T (p.Tyr1292Phe) c.3773A>T (p.Tyr1258Phe) n.212A>T c.1960-222A>T c.347A>T (p.Tyr116Phe) c.3794A>T (p.Tyr1265Phe) c.3854A>T (p.Tyr1285Phe) c.3506A>T (p.Tyr1169Phe) c.3335A>T (p.Tyr1112Phe) c.3221A>T (p.Tyr1074Phe) c.2783A>T (p.Tyr928Phe) n.4051A>T | |
3 | g.46999975T>A | CA352516269 | NBEAL2 | c.3876T>A (p.Tyr1292Ter) c.3774T>A (p.Tyr1258Ter) n.213T>A c.1960-221T>A c.348T>A (p.Tyr116Ter) c.3795T>A (p.Tyr1265Ter) c.3855T>A (p.Tyr1285Ter) c.3507T>A (p.Tyr1169Ter) c.3336T>A (p.Tyr1112Ter) c.3222T>A (p.Tyr1074Ter) c.2784T>A (p.Tyr928Ter) n.4052T>A | |
3 | g.46999975T>C | CA2361096 | NBEAL2 | c.3876T>C (p.Tyr1292=) c.3774T>C (p.Tyr1258=) n.213T>C c.1960-221T>C c.348T>C (p.Tyr116=) c.3795T>C (p.Tyr1265=) c.3855T>C (p.Tyr1285=) c.3507T>C (p.Tyr1169=) c.3336T>C (p.Tyr1112=) c.3222T>C (p.Tyr1074=) c.2784T>C (p.Tyr928=) n.4052T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.46999975T>G | CA352516270 | NBEAL2 | c.3876T>G (p.Tyr1292Ter) c.3774T>G (p.Tyr1258Ter) n.213T>G c.1960-221T>G c.348T>G (p.Tyr116Ter) c.3795T>G (p.Tyr1265Ter) c.3855T>G (p.Tyr1285Ter) c.3507T>G (p.Tyr1169Ter) c.3336T>G (p.Tyr1112Ter) c.3222T>G (p.Tyr1074Ter) c.2784T>G (p.Tyr928Ter) n.4052T>G | |
3 | g.46999975T= | CA1362362954 | NBEAL2 | c.3876T= (p.Tyr1292=) c.3774T= (p.Tyr1258=) n.213T= c.1960-221T= c.348T= (p.Tyr116=) c.3795T= (p.Tyr1265=) c.3855T= (p.Tyr1285=) c.3507T= (p.Tyr1169=) c.3336T= (p.Tyr1112=) c.3222T= (p.Tyr1074=) c.2784T= (p.Tyr928=) n.4052T= | |
3 | g.46999976G>A | CA352516271 | NBEAL2 | c.3877G>A (p.Val1293Ile) c.3775G>A (p.Val1259Ile) n.214G>A c.1960-220G>A c.349G>A (p.Val117Ile) c.3796G>A (p.Val1266Ile) c.3856G>A (p.Val1286Ile) c.3508G>A (p.Val1170Ile) c.3337G>A (p.Val1113Ile) c.3223G>A (p.Val1075Ile) c.2785G>A (p.Val929Ile) n.4053G>A | |
3 | g.46999976G>C | CA352516272 | NBEAL2 | c.3877G>C (p.Val1293Leu) c.3775G>C (p.Val1259Leu) n.214G>C c.1960-220G>C c.349G>C (p.Val117Leu) c.3796G>C (p.Val1266Leu) c.3856G>C (p.Val1286Leu) c.3508G>C (p.Val1170Leu) c.3337G>C (p.Val1113Leu) c.3223G>C (p.Val1075Leu) c.2785G>C (p.Val929Leu) n.4053G>C | |
3 | g.46999976G>T | CA352516273 | NBEAL2 | c.3877G>T (p.Val1293Phe) c.3775G>T (p.Val1259Phe) n.214G>T c.1960-220G>T c.349G>T (p.Val117Phe) c.3796G>T (p.Val1266Phe) c.3856G>T (p.Val1286Phe) c.3508G>T (p.Val1170Phe) c.3337G>T (p.Val1113Phe) c.3223G>T (p.Val1075Phe) c.2785G>T (p.Val929Phe) n.4053G>T | |
3 | g.46999977T>A | CA352516274 | NBEAL2 | c.3878T>A (p.Val1293Asp) c.3776T>A (p.Val1259Asp) n.215T>A c.1960-219T>A c.350T>A (p.Val117Asp) c.3797T>A (p.Val1266Asp) c.3857T>A (p.Val1286Asp) c.3509T>A (p.Val1170Asp) c.3338T>A (p.Val1113Asp) c.3224T>A (p.Val1075Asp) c.2786T>A (p.Val929Asp) n.4054T>A | |
3 | g.46999977T>C | CA352516275 | NBEAL2 | c.3878T>C (p.Val1293Ala) c.3776T>C (p.Val1259Ala) n.215T>C c.1960-219T>C c.350T>C (p.Val117Ala) c.3797T>C (p.Val1266Ala) c.3857T>C (p.Val1286Ala) c.3509T>C (p.Val1170Ala) c.3338T>C (p.Val1113Ala) c.3224T>C (p.Val1075Ala) c.2786T>C (p.Val929Ala) n.4054T>C | |
3 | g.46999977T>G | CA352516276 | NBEAL2 | c.3878T>G (p.Val1293Gly) c.3776T>G (p.Val1259Gly) n.215T>G c.1960-219T>G c.350T>G (p.Val117Gly) c.3797T>G (p.Val1266Gly) c.3857T>G (p.Val1286Gly) c.3509T>G (p.Val1170Gly) c.3338T>G (p.Val1113Gly) c.3224T>G (p.Val1075Gly) c.2786T>G (p.Val929Gly) n.4054T>G | |
3 | g.46999978C>A | CA433598153 | NBEAL2 | c.3879C>A (p.Val1293=) c.3777C>A (p.Val1259=) n.216C>A c.1960-218C>A c.351C>A (p.Val117=) c.3798C>A (p.Val1266=) c.3858C>A (p.Val1286=) c.3510C>A (p.Val1170=) c.3339C>A (p.Val1113=) c.3225C>A (p.Val1075=) c.2787C>A (p.Val929=) n.4055C>A | |
3 | g.46999978C= | CA1362362955 | NBEAL2 | c.3879C= (p.Val1293=) c.3777C= (p.Val1259=) n.216C= c.1960-218C= c.351C= (p.Val117=) c.3798C= (p.Val1266=) c.3858C= (p.Val1286=) c.3510C= (p.Val1170=) c.3339C= (p.Val1113=) c.3225C= (p.Val1075=) c.2787C= (p.Val929=) n.4055C= | |
3 | g.46999978C>G | CA433598154 | NBEAL2 | c.3879C>G (p.Val1293=) c.3777C>G (p.Val1259=) n.216C>G c.1960-218C>G c.351C>G (p.Val117=) c.3798C>G (p.Val1266=) c.3858C>G (p.Val1286=) c.3510C>G (p.Val1170=) c.3339C>G (p.Val1113=) c.3225C>G (p.Val1075=) c.2787C>G (p.Val929=) n.4055C>G | |
3 | g.46999978C>T | CA2361097 | NBEAL2 | c.3879C>T (p.Val1293=) c.3777C>T (p.Val1259=) n.216C>T c.1960-218C>T c.351C>T (p.Val117=) c.3798C>T (p.Val1266=) c.3858C>T (p.Val1286=) c.3510C>T (p.Val1170=) c.3339C>T (p.Val1113=) c.3225C>T (p.Val1075=) c.2787C>T (p.Val929=) n.4055C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.46999979C>A | CA352516278 | NBEAL2 | c.3880C>A (p.Leu1294Met) c.3778C>A (p.Leu1260Met) n.217C>A c.1960-217C>A c.352C>A (p.Leu118Met) c.3799C>A (p.Leu1267Met) c.3859C>A (p.Leu1287Met) c.3511C>A (p.Leu1171Met) c.3340C>A (p.Leu1114Met) c.3226C>A (p.Leu1076Met) c.2788C>A (p.Leu930Met) n.4056C>A | |
3 | g.46999979C= | CA1362362956 | NBEAL2 | c.3880C= (p.Leu1294=) c.3778C= (p.Leu1260=) n.217C= c.1960-217C= c.352C= (p.Leu118=) c.3799C= (p.Leu1267=) c.3859C= (p.Leu1287=) c.3511C= (p.Leu1171=) c.3340C= (p.Leu1114=) c.3226C= (p.Leu1076=) c.2788C= (p.Leu930=) n.4056C= | |
3 | g.46999979C>G | CA352516277 | NBEAL2 | c.3880C>G (p.Leu1294Val) c.3778C>G (p.Leu1260Val) n.217C>G c.1960-217C>G c.352C>G (p.Leu118Val) c.3799C>G (p.Leu1267Val) c.3859C>G (p.Leu1287Val) c.3511C>G (p.Leu1171Val) c.3340C>G (p.Leu1114Val) c.3226C>G (p.Leu1076Val) c.2788C>G (p.Leu930Val) n.4056C>G | |
3 | g.46999979C>T | CA73817558 | NBEAL2 | c.3880C>T (p.Leu1294=) c.3778C>T (p.Leu1260=) n.217C>T c.1960-217C>T c.352C>T (p.Leu118=) c.3799C>T (p.Leu1267=) c.3859C>T (p.Leu1287=) c.3511C>T (p.Leu1171=) c.3340C>T (p.Leu1114=) c.3226C>T (p.Leu1076=) c.2788C>T (p.Leu930=) n.4056C>T | dbSNP gnomAD v3 gnomAD v4 |
3 | g.46999980T>A | CA352516279 | NBEAL2 | c.3881T>A (p.Leu1294Gln) c.3779T>A (p.Leu1260Gln) n.218T>A c.1960-216T>A c.353T>A (p.Leu118Gln) c.3800T>A (p.Leu1267Gln) c.3860T>A (p.Leu1287Gln) c.3512T>A (p.Leu1171Gln) c.3341T>A (p.Leu1114Gln) c.3227T>A (p.Leu1076Gln) c.2789T>A (p.Leu930Gln) n.4057T>A | |
3 | g.46999980T>C | CA352516280 | NBEAL2 | c.3881T>C (p.Leu1294Pro) c.3779T>C (p.Leu1260Pro) n.218T>C c.1960-216T>C c.353T>C (p.Leu118Pro) c.3800T>C (p.Leu1267Pro) c.3860T>C (p.Leu1287Pro) c.3512T>C (p.Leu1171Pro) c.3341T>C (p.Leu1114Pro) c.3227T>C (p.Leu1076Pro) c.2789T>C (p.Leu930Pro) n.4057T>C | gnomAD v4 |
3 | g.46999980T>G | CA352516281 | NBEAL2 | c.3881T>G (p.Leu1294Arg) c.3779T>G (p.Leu1260Arg) n.218T>G c.1960-216T>G c.353T>G (p.Leu118Arg) c.3800T>G (p.Leu1267Arg) c.3860T>G (p.Leu1287Arg) c.3512T>G (p.Leu1171Arg) c.3341T>G (p.Leu1114Arg) c.3227T>G (p.Leu1076Arg) c.2789T>G (p.Leu930Arg) n.4057T>G | |
3 | g.46999981G>A | CA73817565 | NBEAL2 | c.3882G>A (p.Leu1294=) c.3780G>A (p.Leu1260=) n.219G>A c.1960-215G>A c.354G>A (p.Leu118=) c.3801G>A (p.Leu1267=) c.3861G>A (p.Leu1287=) c.3513G>A (p.Leu1171=) c.3342G>A (p.Leu1114=) c.3228G>A (p.Leu1076=) c.2790G>A (p.Leu930=) n.4058G>A | dbSNP gnomAD v3 gnomAD v4 |
3 | g.46999981G>C | CA433598158 | NBEAL2 | c.3882G>C (p.Leu1294=) c.3780G>C (p.Leu1260=) n.219G>C c.1960-215G>C c.354G>C (p.Leu118=) c.3801G>C (p.Leu1267=) c.3861G>C (p.Leu1287=) c.3513G>C (p.Leu1171=) c.3342G>C (p.Leu1114=) c.3228G>C (p.Leu1076=) c.2790G>C (p.Leu930=) n.4058G>C | |
3 | g.46999981G= | CA1362362957 | NBEAL2 | c.3882G= (p.Leu1294=) c.3780G= (p.Leu1260=) n.219G= c.1960-215G= c.354G= (p.Leu118=) c.3801G= (p.Leu1267=) c.3861G= (p.Leu1287=) c.3513G= (p.Leu1171=) c.3342G= (p.Leu1114=) c.3228G= (p.Leu1076=) c.2790G= (p.Leu930=) n.4058G= | |
3 | g.46999981G>T | CA433598159 | NBEAL2 | c.3882G>T (p.Leu1294=) c.3780G>T (p.Leu1260=) n.219G>T c.1960-215G>T c.354G>T (p.Leu118=) c.3801G>T (p.Leu1267=) c.3861G>T (p.Leu1287=) c.3513G>T (p.Leu1171=) c.3342G>T (p.Leu1114=) c.3228G>T (p.Leu1076=) c.2790G>T (p.Leu930=) n.4058G>T | |
3 | g.46999982G>A | CA352516282 | NBEAL2 | c.3883G>A (p.Glu1295Lys) c.3781G>A (p.Glu1261Lys) n.220G>A c.1960-214G>A c.355G>A (p.Glu119Lys) c.3802G>A (p.Glu1268Lys) c.3862G>A (p.Glu1288Lys) c.3514G>A (p.Glu1172Lys) c.3343G>A (p.Glu1115Lys) c.3229G>A (p.Glu1077Lys) c.2791G>A (p.Glu931Lys) n.4059G>A | |
3 | g.46999982G>C | CA352516283 | NBEAL2 | c.3883G>C (p.Glu1295Gln) c.3781G>C (p.Glu1261Gln) n.220G>C c.1960-214G>C c.355G>C (p.Glu119Gln) c.3802G>C (p.Glu1268Gln) c.3862G>C (p.Glu1288Gln) c.3514G>C (p.Glu1172Gln) c.3343G>C (p.Glu1115Gln) c.3229G>C (p.Glu1077Gln) c.2791G>C (p.Glu931Gln) n.4059G>C | dbSNP gnomAD v2 gnomAD v4 |
3 | g.46999982G= | CA1362362958 | NBEAL2 | c.3883G= (p.Glu1295=) c.3781G= (p.Glu1261=) n.220G= c.1960-214G= c.355G= (p.Glu119=) c.3802G= (p.Glu1268=) c.3862G= (p.Glu1288=) c.3514G= (p.Glu1172=) c.3343G= (p.Glu1115=) c.3229G= (p.Glu1077=) c.2791G= (p.Glu931=) n.4059G= | |
3 | g.46999982G>T | CA352516284 | NBEAL2 | c.3883G>T (p.Glu1295Ter) c.3781G>T (p.Glu1261Ter) n.220G>T c.1960-214G>T c.355G>T (p.Glu119Ter) c.3802G>T (p.Glu1268Ter) c.3862G>T (p.Glu1288Ter) c.3514G>T (p.Glu1172Ter) c.3343G>T (p.Glu1115Ter) c.3229G>T (p.Glu1077Ter) c.2791G>T (p.Glu931Ter) n.4059G>T | |
3 | g.46999983A>C | CA352516287 | NBEAL2 | c.3884A>C (p.Glu1295Ala) c.3782A>C (p.Glu1261Ala) n.221A>C c.1960-213A>C c.356A>C (p.Glu119Ala) c.3803A>C (p.Glu1268Ala) c.3863A>C (p.Glu1288Ala) c.3515A>C (p.Glu1172Ala) c.3344A>C (p.Glu1115Ala) c.3230A>C (p.Glu1077Ala) c.2792A>C (p.Glu931Ala) n.4060A>C | |
3 | g.46999983A>G | CA352516285 | NBEAL2 | c.3884A>G (p.Glu1295Gly) c.3782A>G (p.Glu1261Gly) n.221A>G c.1960-213A>G c.356A>G (p.Glu119Gly) c.3803A>G (p.Glu1268Gly) c.3863A>G (p.Glu1288Gly) c.3515A>G (p.Glu1172Gly) c.3344A>G (p.Glu1115Gly) c.3230A>G (p.Glu1077Gly) c.2792A>G (p.Glu931Gly) n.4060A>G | |
3 | g.46999983A>T | CA352516286 | NBEAL2 | c.3884A>T (p.Glu1295Val) c.3782A>T (p.Glu1261Val) n.221A>T c.1960-213A>T c.356A>T (p.Glu119Val) c.3803A>T (p.Glu1268Val) c.3863A>T (p.Glu1288Val) c.3515A>T (p.Glu1172Val) c.3344A>T (p.Glu1115Val) c.3230A>T (p.Glu1077Val) c.2792A>T (p.Glu931Val) n.4060A>T | |
3 | g.46999984G>A | CA433598161 | NBEAL2 | c.3885G>A (p.Glu1295=) c.3783G>A (p.Glu1261=) n.222G>A c.1960-212G>A c.357G>A (p.Glu119=) c.3804G>A (p.Glu1268=) c.3864G>A (p.Glu1288=) c.3516G>A (p.Glu1172=) c.3345G>A (p.Glu1115=) c.3231G>A (p.Glu1077=) c.2793G>A (p.Glu931=) n.4061G>A | gnomAD v4 |
3 | g.46999984G>C | CA352516288 | NBEAL2 | c.3885G>C (p.Glu1295Asp) c.3783G>C (p.Glu1261Asp) n.222G>C c.1960-212G>C c.357G>C (p.Glu119Asp) c.3804G>C (p.Glu1268Asp) c.3864G>C (p.Glu1288Asp) c.3516G>C (p.Glu1172Asp) c.3345G>C (p.Glu1115Asp) c.3231G>C (p.Glu1077Asp) c.2793G>C (p.Glu931Asp) n.4061G>C | |
3 | g.46999984G>T | CA352516289 | NBEAL2 | c.3885G>T (p.Glu1295Asp) c.3783G>T (p.Glu1261Asp) n.222G>T c.1960-212G>T c.357G>T (p.Glu119Asp) c.3804G>T (p.Glu1268Asp) c.3864G>T (p.Glu1288Asp) c.3516G>T (p.Glu1172Asp) c.3345G>T (p.Glu1115Asp) c.3231G>T (p.Glu1077Asp) c.2793G>T (p.Glu931Asp) n.4061G>T | |
3 | g.46999985G>A | CA2361098 | NBEAL2 | c.3886G>A (p.Ala1296Thr) c.3784G>A (p.Ala1262Thr) n.223G>A c.1960-211G>A c.358G>A (p.Ala120Thr) c.3805G>A (p.Ala1269Thr) c.3865G>A (p.Ala1289Thr) c.3517G>A (p.Ala1173Thr) c.3346G>A (p.Ala1116Thr) c.3232G>A (p.Ala1078Thr) c.2794G>A (p.Ala932Thr) n.4062G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.46999985G>C | CA352516290 | NBEAL2 | c.3886G>C (p.Ala1296Pro) c.3784G>C (p.Ala1262Pro) n.223G>C c.1960-211G>C c.358G>C (p.Ala120Pro) c.3805G>C (p.Ala1269Pro) c.3865G>C (p.Ala1289Pro) c.3517G>C (p.Ala1173Pro) c.3346G>C (p.Ala1116Pro) c.3232G>C (p.Ala1078Pro) c.2794G>C (p.Ala932Pro) n.4062G>C | |
3 | g.46999985G= | CA1362362959 | NBEAL2 | c.3886G= (p.Ala1296=) c.3784G= (p.Ala1262=) n.223G= c.1960-211G= c.358G= (p.Ala120=) c.3805G= (p.Ala1269=) c.3865G= (p.Ala1289=) c.3517G= (p.Ala1173=) c.3346G= (p.Ala1116=) c.3232G= (p.Ala1078=) c.2794G= (p.Ala932=) n.4062G= | |
3 | g.46999985G>T | CA352516291 | NBEAL2 | c.3886G>T (p.Ala1296Ser) c.3784G>T (p.Ala1262Ser) n.223G>T c.1960-211G>T c.358G>T (p.Ala120Ser) c.3805G>T (p.Ala1269Ser) c.3865G>T (p.Ala1289Ser) c.3517G>T (p.Ala1173Ser) c.3346G>T (p.Ala1116Ser) c.3232G>T (p.Ala1078Ser) c.2794G>T (p.Ala932Ser) n.4062G>T | |
3 | g.46999986C>A | CA352516292 | NBEAL2 | c.3887C>A (p.Ala1296Asp) c.3785C>A (p.Ala1262Asp) n.224C>A c.1960-210C>A c.359C>A (p.Ala120Asp) c.3806C>A (p.Ala1269Asp) c.3866C>A (p.Ala1289Asp) c.3518C>A (p.Ala1173Asp) c.3347C>A (p.Ala1116Asp) c.3233C>A (p.Ala1078Asp) c.2795C>A (p.Ala932Asp) n.4063C>A | |
3 | g.46999986C>G | CA352516294 | NBEAL2 | c.3887C>G (p.Ala1296Gly) c.3785C>G (p.Ala1262Gly) n.224C>G c.1960-210C>G c.359C>G (p.Ala120Gly) c.3806C>G (p.Ala1269Gly) c.3866C>G (p.Ala1289Gly) c.3518C>G (p.Ala1173Gly) c.3347C>G (p.Ala1116Gly) c.3233C>G (p.Ala1078Gly) c.2795C>G (p.Ala932Gly) n.4063C>G | gnomAD v4 |
3 | g.46999986C>T | CA352516293 | NBEAL2 | c.3887C>T (p.Ala1296Val) c.3785C>T (p.Ala1262Val) n.224C>T c.1960-210C>T c.359C>T (p.Ala120Val) c.3806C>T (p.Ala1269Val) c.3866C>T (p.Ala1289Val) c.3518C>T (p.Ala1173Val) c.3347C>T (p.Ala1116Val) c.3233C>T (p.Ala1078Val) c.2795C>T (p.Ala932Val) n.4063C>T | |
3 | g.46999987T>A | CA433598162 | NBEAL2 | c.3888T>A (p.Ala1296=) c.3786T>A (p.Ala1262=) n.225T>A c.1960-209T>A c.360T>A (p.Ala120=) c.3807T>A (p.Ala1269=) c.3867T>A (p.Ala1289=) c.3519T>A (p.Ala1173=) c.3348T>A (p.Ala1116=) c.3234T>A (p.Ala1078=) c.2796T>A (p.Ala932=) n.4064T>A | |
3 | g.46999987T>C | CA433598163 | NBEAL2 | c.3888T>C (p.Ala1296=) c.3786T>C (p.Ala1262=) n.225T>C c.1960-209T>C c.360T>C (p.Ala120=) c.3807T>C (p.Ala1269=) c.3867T>C (p.Ala1289=) c.3519T>C (p.Ala1173=) c.3348T>C (p.Ala1116=) c.3234T>C (p.Ala1078=) c.2796T>C (p.Ala932=) n.4064T>C | |
3 | g.46999987T>G | CA433598164 | NBEAL2 | c.3888T>G (p.Ala1296=) c.3786T>G (p.Ala1262=) n.225T>G c.1960-209T>G c.360T>G (p.Ala120=) c.3807T>G (p.Ala1269=) c.3867T>G (p.Ala1289=) c.3519T>G (p.Ala1173=) c.3348T>G (p.Ala1116=) c.3234T>G (p.Ala1078=) c.2796T>G (p.Ala932=) n.4064T>G | |
3 | g.46999988G>A | CA352516295 | NBEAL2 | c.3889G>A (p.Ala1297Thr) c.3787G>A (p.Ala1263Thr) n.226G>A c.1960-208G>A c.361G>A (p.Ala121Thr) c.3808G>A (p.Ala1270Thr) c.3868G>A (p.Ala1290Thr) c.3520G>A (p.Ala1174Thr) c.3349G>A (p.Ala1117Thr) c.3235G>A (p.Ala1079Thr) c.2797G>A (p.Ala933Thr) n.4065G>A | gnomAD v4 |
3 | g.46999988G>C | CA352516296 | NBEAL2 | c.3889G>C (p.Ala1297Pro) c.3787G>C (p.Ala1263Pro) n.226G>C c.1960-208G>C c.361G>C (p.Ala121Pro) c.3808G>C (p.Ala1270Pro) c.3868G>C (p.Ala1290Pro) c.3520G>C (p.Ala1174Pro) c.3349G>C (p.Ala1117Pro) c.3235G>C (p.Ala1079Pro) c.2797G>C (p.Ala933Pro) n.4065G>C | |
3 | g.46999988G= | CA1362362960 | NBEAL2 | c.3889G= (p.Ala1297=) c.3787G= (p.Ala1263=) n.226G= c.1960-208G= c.361G= (p.Ala121=) c.3808G= (p.Ala1270=) c.3868G= (p.Ala1290=) c.3520G= (p.Ala1174=) c.3349G= (p.Ala1117=) c.3235G= (p.Ala1079=) c.2797G= (p.Ala933=) n.4065G= | |
3 | g.46999988G>T | CA2361099 | NBEAL2 | c.3889G>T (p.Ala1297Ser) c.3787G>T (p.Ala1263Ser) n.226G>T c.1960-208G>T c.361G>T (p.Ala121Ser) c.3808G>T (p.Ala1270Ser) c.3868G>T (p.Ala1290Ser) c.3520G>T (p.Ala1174Ser) c.3349G>T (p.Ala1117Ser) c.3235G>T (p.Ala1079Ser) c.2797G>T (p.Ala933Ser) n.4065G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.46999989C>A | CA352516297 | NBEAL2 | c.3890C>A (p.Ala1297Asp) c.3788C>A (p.Ala1263Asp) n.227C>A c.1960-207C>A c.362C>A (p.Ala121Asp) c.3809C>A (p.Ala1270Asp) c.3869C>A (p.Ala1290Asp) c.3521C>A (p.Ala1174Asp) c.3350C>A (p.Ala1117Asp) c.3236C>A (p.Ala1079Asp) c.2798C>A (p.Ala933Asp) n.4066C>A | |
3 | g.46999989C>G | CA352516298 | NBEAL2 | c.3890C>G (p.Ala1297Gly) c.3788C>G (p.Ala1263Gly) n.227C>G c.1960-207C>G c.362C>G (p.Ala121Gly) c.3809C>G (p.Ala1270Gly) c.3869C>G (p.Ala1290Gly) c.3521C>G (p.Ala1174Gly) c.3350C>G (p.Ala1117Gly) c.3236C>G (p.Ala1079Gly) c.2798C>G (p.Ala933Gly) n.4066C>G | |
3 | g.46999989C>T | CA352516299 | NBEAL2 | c.3890C>T (p.Ala1297Val) c.3788C>T (p.Ala1263Val) n.227C>T c.1960-207C>T c.362C>T (p.Ala121Val) c.3809C>T (p.Ala1270Val) c.3869C>T (p.Ala1290Val) c.3521C>T (p.Ala1174Val) c.3350C>T (p.Ala1117Val) c.3236C>T (p.Ala1079Val) c.2798C>T (p.Ala933Val) n.4066C>T | gnomAD v4 |
3 | g.46999990C>A | CA433598165 | NBEAL2 | c.3891C>A (p.Ala1297=) c.3789C>A (p.Ala1263=) n.228C>A c.1960-206C>A c.363C>A (p.Ala121=) c.3810C>A (p.Ala1270=) c.3870C>A (p.Ala1290=) c.3522C>A (p.Ala1174=) c.3351C>A (p.Ala1117=) c.3237C>A (p.Ala1079=) c.2799C>A (p.Ala933=) n.4067C>A | |
3 | g.46999990C>G | CA433598166 | NBEAL2 | c.3891C>G (p.Ala1297=) c.3789C>G (p.Ala1263=) n.228C>G c.1960-206C>G c.363C>G (p.Ala121=) c.3810C>G (p.Ala1270=) c.3870C>G (p.Ala1290=) c.3522C>G (p.Ala1174=) c.3351C>G (p.Ala1117=) c.3237C>G (p.Ala1079=) c.2799C>G (p.Ala933=) n.4067C>G | |
3 | g.46999990C>T | CA433598168 | NBEAL2 | c.3891C>T (p.Ala1297=) c.3789C>T (p.Ala1263=) n.228C>T c.1960-206C>T c.363C>T (p.Ala121=) c.3810C>T (p.Ala1270=) c.3870C>T (p.Ala1290=) c.3522C>T (p.Ala1174=) c.3351C>T (p.Ala1117=) c.3237C>T (p.Ala1079=) c.2799C>T (p.Ala933=) n.4067C>T | |
3 | g.46999991A>C | CA352516300 | NBEAL2 | c.3892A>C (p.Thr1298Pro) c.3790A>C (p.Thr1264Pro) n.229A>C c.1960-205A>C c.364A>C (p.Thr122Pro) c.3811A>C (p.Thr1271Pro) c.3871A>C (p.Thr1291Pro) c.3523A>C (p.Thr1175Pro) c.3352A>C (p.Thr1118Pro) c.3238A>C (p.Thr1080Pro) c.2800A>C (p.Thr934Pro) n.4068A>C | |
3 | g.46999991A>G | CA352516301 | NBEAL2 | c.3892A>G (p.Thr1298Ala) c.3790A>G (p.Thr1264Ala) n.229A>G c.1960-205A>G c.364A>G (p.Thr122Ala) c.3811A>G (p.Thr1271Ala) c.3871A>G (p.Thr1291Ala) c.3523A>G (p.Thr1175Ala) c.3352A>G (p.Thr1118Ala) c.3238A>G (p.Thr1080Ala) c.2800A>G (p.Thr934Ala) n.4068A>G | |
3 | g.46999991A>T | CA352516302 | NBEAL2 | c.3892A>T (p.Thr1298Ser) c.3790A>T (p.Thr1264Ser) n.229A>T c.1960-205A>T c.364A>T (p.Thr122Ser) c.3811A>T (p.Thr1271Ser) c.3871A>T (p.Thr1291Ser) c.3523A>T (p.Thr1175Ser) c.3352A>T (p.Thr1118Ser) c.3238A>T (p.Thr1080Ser) c.2800A>T (p.Thr934Ser) n.4068A>T | |
3 | g.46999992C>A | CA352516303 | NBEAL2 | c.3893C>A (p.Thr1298Lys) c.3791C>A (p.Thr1264Lys) n.230C>A c.1960-204C>A c.365C>A (p.Thr122Lys) c.3812C>A (p.Thr1271Lys) c.3872C>A (p.Thr1291Lys) c.3524C>A (p.Thr1175Lys) c.3353C>A (p.Thr1118Lys) c.3239C>A (p.Thr1080Lys) c.2801C>A (p.Thr934Lys) n.4069C>A | |
3 | g.46999992C>G | CA352516304 | NBEAL2 | c.3893C>G (p.Thr1298Arg) c.3791C>G (p.Thr1264Arg) n.230C>G c.1960-204C>G c.365C>G (p.Thr122Arg) c.3812C>G (p.Thr1271Arg) c.3872C>G (p.Thr1291Arg) c.3524C>G (p.Thr1175Arg) c.3353C>G (p.Thr1118Arg) c.3239C>G (p.Thr1080Arg) c.2801C>G (p.Thr934Arg) n.4069C>G | |
3 | g.46999992C>T | CA352516305 | NBEAL2 | c.3893C>T (p.Thr1298Ile) c.3791C>T (p.Thr1264Ile) n.230C>T c.1960-204C>T c.365C>T (p.Thr122Ile) c.3812C>T (p.Thr1271Ile) c.3872C>T (p.Thr1291Ile) c.3524C>T (p.Thr1175Ile) c.3353C>T (p.Thr1118Ile) c.3239C>T (p.Thr1080Ile) c.2801C>T (p.Thr934Ile) n.4069C>T | gnomAD v4 |
3 | g.46999995_47000021dup | CA1047549616 | NBEAL2 | c.3896_3922dup (p.Pro1307_Glu1308insAlaGlySerProProProSerSerPro) c.3794_3820dup (p.Pro1273_Glu1274insAlaGlySerProProProSerSerPro) n.233_259dup c.1960-201_1960-175dup c.368_394dup (p.Pro131_Glu132insAlaGlySerProProProSerSerPro) c.3815_3841dup (p.Pro1280_Glu1281insAlaGlySerProProProSerSerPro) c.3875_3901dup (p.Pro1300_Glu1301insAlaGlySerProProProSerSerPro) c.3527_3553dup (p.Pro1184_Glu1185insAlaGlySerProProProSerSerPro) c.3356_3382dup (p.Pro1127_Glu1128insAlaGlySerProProProSerSerPro) c.3242_3268dup (p.Pro1089_Glu1090insAlaGlySerProProProSerSerPro) c.2804_2830dup (p.Pro943_Glu944insAlaGlySerProProProSerSerPro) n.4072_4098dup | gnomAD v3 gnomAD v4 |
3 | g.46999993A>C | CA433598171 | NBEAL2 | c.3894A>C (p.Thr1298=) c.3792A>C (p.Thr1264=) n.231A>C c.1960-203A>C c.366A>C (p.Thr122=) c.3813A>C (p.Thr1271=) c.3873A>C (p.Thr1291=) c.3525A>C (p.Thr1175=) c.3354A>C (p.Thr1118=) c.3240A>C (p.Thr1080=) c.2802A>C (p.Thr934=) n.4070A>C | |
3 | g.46999993A>G | CA433598172 | NBEAL2 | c.3894A>G (p.Thr1298=) c.3792A>G (p.Thr1264=) n.231A>G c.1960-203A>G c.366A>G (p.Thr122=) c.3813A>G (p.Thr1271=) c.3873A>G (p.Thr1291=) c.3525A>G (p.Thr1175=) c.3354A>G (p.Thr1118=) c.3240A>G (p.Thr1080=) c.2802A>G (p.Thr934=) n.4070A>G | gnomAD v4 |
3 | g.46999993A>T | CA433598173 | NBEAL2 | c.3894A>T (p.Thr1298=) c.3792A>T (p.Thr1264=) n.231A>T c.1960-203A>T c.366A>T (p.Thr122=) c.3813A>T (p.Thr1271=) c.3873A>T (p.Thr1291=) c.3525A>T (p.Thr1175=) c.3354A>T (p.Thr1118=) c.3240A>T (p.Thr1080=) c.2802A>T (p.Thr934=) n.4070A>T | |
3 | g.46999994G>A | CA352516308 | NBEAL2 | c.3895G>A (p.Ala1299Thr) c.3793G>A (p.Ala1265Thr) n.232G>A c.1960-202G>A c.367G>A (p.Ala123Thr) c.3814G>A (p.Ala1272Thr) c.3874G>A (p.Ala1292Thr) c.3526G>A (p.Ala1176Thr) c.3355G>A (p.Ala1119Thr) c.3241G>A (p.Ala1081Thr) c.2803G>A (p.Ala935Thr) n.4071G>A | |
3 | g.46999994G>C | CA352516307 | NBEAL2 | c.3895G>C (p.Ala1299Pro) c.3793G>C (p.Ala1265Pro) n.232G>C c.1960-202G>C c.367G>C (p.Ala123Pro) c.3814G>C (p.Ala1272Pro) c.3874G>C (p.Ala1292Pro) c.3526G>C (p.Ala1176Pro) c.3355G>C (p.Ala1119Pro) c.3241G>C (p.Ala1081Pro) c.2803G>C (p.Ala935Pro) n.4071G>C | |
3 | g.46999994G>T | CA352516306 | NBEAL2 | c.3895G>T (p.Ala1299Ser) c.3793G>T (p.Ala1265Ser) n.232G>T c.1960-202G>T c.367G>T (p.Ala123Ser) c.3814G>T (p.Ala1272Ser) c.3874G>T (p.Ala1292Ser) c.3526G>T (p.Ala1176Ser) c.3355G>T (p.Ala1119Ser) c.3241G>T (p.Ala1081Ser) c.2803G>T (p.Ala935Ser) n.4071G>T | |
3 | g.46999995C>A | CA352516309 | NBEAL2 | c.3896C>A (p.Ala1299Asp) c.3794C>A (p.Ala1265Asp) n.233C>A c.1960-201C>A c.368C>A (p.Ala123Asp) c.3815C>A (p.Ala1272Asp) c.3875C>A (p.Ala1292Asp) c.3527C>A (p.Ala1176Asp) c.3356C>A (p.Ala1119Asp) c.3242C>A (p.Ala1081Asp) c.2804C>A (p.Ala935Asp) n.4072C>A | |
3 | g.46999995C= | CA1362362961 | NBEAL2 | c.3896C= (p.Ala1299=) c.3794C= (p.Ala1265=) n.233C= c.1960-201C= c.368C= (p.Ala123=) c.3815C= (p.Ala1272=) c.3875C= (p.Ala1292=) c.3527C= (p.Ala1176=) c.3356C= (p.Ala1119=) c.3242C= (p.Ala1081=) c.2804C= (p.Ala935=) n.4072C= | |
3 | g.46999995C>G | CA352516310 | NBEAL2 | c.3896C>G (p.Ala1299Gly) c.3794C>G (p.Ala1265Gly) n.233C>G c.1960-201C>G c.368C>G (p.Ala123Gly) c.3815C>G (p.Ala1272Gly) c.3875C>G (p.Ala1292Gly) c.3527C>G (p.Ala1176Gly) c.3356C>G (p.Ala1119Gly) c.3242C>G (p.Ala1081Gly) c.2804C>G (p.Ala935Gly) n.4072C>G | |
3 | g.46999995C>T | CA2361100 | NBEAL2 | c.3896C>T (p.Ala1299Val) c.3794C>T (p.Ala1265Val) n.233C>T c.1960-201C>T c.368C>T (p.Ala123Val) c.3815C>T (p.Ala1272Val) c.3875C>T (p.Ala1292Val) c.3527C>T (p.Ala1176Val) c.3356C>T (p.Ala1119Val) c.3242C>T (p.Ala1081Val) c.2804C>T (p.Ala935Val) n.4072C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
3 | g.46999996C>A | CA433598176 | NBEAL2 | c.3897C>A (p.Ala1299=) c.3795C>A (p.Ala1265=) n.234C>A c.1960-200C>A c.369C>A (p.Ala123=) c.3816C>A (p.Ala1272=) c.3876C>A (p.Ala1292=) c.3528C>A (p.Ala1176=) c.3357C>A (p.Ala1119=) c.3243C>A (p.Ala1081=) c.2805C>A (p.Ala935=) n.4073C>A | |
3 | g.46999996C= | CA1362362962 | NBEAL2 | c.3897C= (p.Ala1299=) c.3795C= (p.Ala1265=) n.234C= c.1960-200C= c.369C= (p.Ala123=) c.3816C= (p.Ala1272=) c.3876C= (p.Ala1292=) c.3528C= (p.Ala1176=) c.3357C= (p.Ala1119=) c.3243C= (p.Ala1081=) c.2805C= (p.Ala935=) n.4073C= | |
3 | g.46999996C>G | CA433598175 | NBEAL2 | c.3897C>G (p.Ala1299=) c.3795C>G (p.Ala1265=) n.234C>G c.1960-200C>G c.369C>G (p.Ala123=) c.3816C>G (p.Ala1272=) c.3876C>G (p.Ala1292=) c.3528C>G (p.Ala1176=) c.3357C>G (p.Ala1119=) c.3243C>G (p.Ala1081=) c.2805C>G (p.Ala935=) n.4073C>G | |
3 | g.46999996C>T | CA2361101 | NBEAL2 | c.3897C>T (p.Ala1299=) c.3795C>T (p.Ala1265=) n.234C>T c.1960-200C>T c.369C>T (p.Ala123=) c.3816C>T (p.Ala1272=) c.3876C>T (p.Ala1292=) c.3528C>T (p.Ala1176=) c.3357C>T (p.Ala1119=) c.3243C>T (p.Ala1081=) c.2805C>T (p.Ala935=) n.4073C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.46999997G>A | CA2361102 | NBEAL2 | c.3898G>A (p.Gly1300Ser) c.3796G>A (p.Gly1266Ser) n.235G>A c.1960-199G>A c.370G>A (p.Gly124Ser) c.3817G>A (p.Gly1273Ser) c.3877G>A (p.Gly1293Ser) c.3529G>A (p.Gly1177Ser) c.3358G>A (p.Gly1120Ser) c.3244G>A (p.Gly1082Ser) c.2806G>A (p.Gly936Ser) n.4074G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.46999997G>C | CA352516311 | NBEAL2 | c.3898G>C (p.Gly1300Arg) c.3796G>C (p.Gly1266Arg) n.235G>C c.1960-199G>C c.370G>C (p.Gly124Arg) c.3817G>C (p.Gly1273Arg) c.3877G>C (p.Gly1293Arg) c.3529G>C (p.Gly1177Arg) c.3358G>C (p.Gly1120Arg) c.3244G>C (p.Gly1082Arg) c.2806G>C (p.Gly936Arg) n.4074G>C | |
3 | g.46999997G= | CA1362362963 | NBEAL2 | c.3898G= (p.Gly1300=) c.3796G= (p.Gly1266=) n.235G= c.1960-199G= c.370G= (p.Gly124=) c.3817G= (p.Gly1273=) c.3877G= (p.Gly1293=) c.3529G= (p.Gly1177=) c.3358G= (p.Gly1120=) c.3244G= (p.Gly1082=) c.2806G= (p.Gly936=) n.4074G= | |
3 | g.46999997G>T | CA352516312 | NBEAL2 | c.3898G>T (p.Gly1300Cys) c.3796G>T (p.Gly1266Cys) n.235G>T c.1960-199G>T c.370G>T (p.Gly124Cys) c.3817G>T (p.Gly1273Cys) c.3877G>T (p.Gly1293Cys) c.3529G>T (p.Gly1177Cys) c.3358G>T (p.Gly1120Cys) c.3244G>T (p.Gly1082Cys) c.2806G>T (p.Gly936Cys) n.4074G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.46999998G>A | CA352516313 | NBEAL2 | c.3899G>A (p.Gly1300Asp) c.3797G>A (p.Gly1266Asp) n.236G>A c.1960-198G>A c.371G>A (p.Gly124Asp) c.3818G>A (p.Gly1273Asp) c.3878G>A (p.Gly1293Asp) c.3530G>A (p.Gly1177Asp) c.3359G>A (p.Gly1120Asp) c.3245G>A (p.Gly1082Asp) c.2807G>A (p.Gly936Asp) n.4075G>A | |
3 | g.46999998G>C | CA352516314 | NBEAL2 | c.3899G>C (p.Gly1300Ala) c.3797G>C (p.Gly1266Ala) n.236G>C c.1960-198G>C c.371G>C (p.Gly124Ala) c.3818G>C (p.Gly1273Ala) c.3878G>C (p.Gly1293Ala) c.3530G>C (p.Gly1177Ala) c.3359G>C (p.Gly1120Ala) c.3245G>C (p.Gly1082Ala) c.2807G>C (p.Gly936Ala) n.4075G>C | |
3 | g.46999998G= | CA1362362964 | NBEAL2 | c.3899G= (p.Gly1300=) c.3797G= (p.Gly1266=) n.236G= c.1960-198G= c.371G= (p.Gly124=) c.3818G= (p.Gly1273=) c.3878G= (p.Gly1293=) c.3530G= (p.Gly1177=) c.3359G= (p.Gly1120=) c.3245G= (p.Gly1082=) c.2807G= (p.Gly936=) n.4075G= | |
3 | g.46999998G>T | CA352516315 | NBEAL2 | c.3899G>T (p.Gly1300Val) c.3797G>T (p.Gly1266Val) n.236G>T c.1960-198G>T c.371G>T (p.Gly124Val) c.3818G>T (p.Gly1273Val) c.3878G>T (p.Gly1293Val) c.3530G>T (p.Gly1177Val) c.3359G>T (p.Gly1120Val) c.3245G>T (p.Gly1082Val) c.2807G>T (p.Gly936Val) n.4075G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.46999999C>A | CA433598177 | NBEAL2 | c.3900C>A (p.Gly1300=) c.3798C>A (p.Gly1266=) n.237C>A c.1960-197C>A c.372C>A (p.Gly124=) c.3819C>A (p.Gly1273=) c.3879C>A (p.Gly1293=) c.3531C>A (p.Gly1177=) c.3360C>A (p.Gly1120=) c.3246C>A (p.Gly1082=) c.2808C>A (p.Gly936=) n.4076C>A | dbSNP |
3 | g.46999999C= | CA1362362965 | NBEAL2 | c.3900C= (p.Gly1300=) c.3798C= (p.Gly1266=) n.237C= c.1960-197C= c.372C= (p.Gly124=) c.3819C= (p.Gly1273=) c.3879C= (p.Gly1293=) c.3531C= (p.Gly1177=) c.3360C= (p.Gly1120=) c.3246C= (p.Gly1082=) c.2808C= (p.Gly936=) n.4076C= | |
3 | g.46999999C>G | CA433598178 | NBEAL2 | c.3900C>G (p.Gly1300=) c.3798C>G (p.Gly1266=) n.237C>G c.1960-197C>G c.372C>G (p.Gly124=) c.3819C>G (p.Gly1273=) c.3879C>G (p.Gly1293=) c.3531C>G (p.Gly1177=) c.3360C>G (p.Gly1120=) c.3246C>G (p.Gly1082=) c.2808C>G (p.Gly936=) n.4076C>G | |
3 | g.46999999C>T | CA433598179 | NBEAL2 | c.3900C>T (p.Gly1300=) c.3798C>T (p.Gly1266=) n.237C>T c.1960-197C>T c.372C>T (p.Gly124=) c.3819C>T (p.Gly1273=) c.3879C>T (p.Gly1293=) c.3531C>T (p.Gly1177=) c.3360C>T (p.Gly1120=) c.3246C>T (p.Gly1082=) c.2808C>T (p.Gly936=) n.4076C>T | |
3 | g.47000000A>C | CA352516316 | NBEAL2 | c.3901A>C (p.Ser1301Arg) c.3799A>C (p.Ser1267Arg) n.238A>C c.1960-196A>C c.373A>C (p.Ser125Arg) c.3820A>C (p.Ser1274Arg) c.3880A>C (p.Ser1294Arg) c.3532A>C (p.Ser1178Arg) c.3361A>C (p.Ser1121Arg) c.3247A>C (p.Ser1083Arg) c.2809A>C (p.Ser937Arg) n.4077A>C | dbSNP |
3 | g.47000000A>G | CA352516317 | NBEAL2 | c.3901A>G (p.Ser1301Gly) c.3799A>G (p.Ser1267Gly) n.238A>G c.1960-196A>G c.373A>G (p.Ser125Gly) c.3820A>G (p.Ser1274Gly) c.3880A>G (p.Ser1294Gly) c.3532A>G (p.Ser1178Gly) c.3361A>G (p.Ser1121Gly) c.3247A>G (p.Ser1083Gly) c.2809A>G (p.Ser937Gly) n.4077A>G | |
3 | g.47000000A>T | CA352516318 | NBEAL2 | c.3901A>T (p.Ser1301Cys) c.3799A>T (p.Ser1267Cys) n.238A>T c.1960-196A>T c.373A>T (p.Ser125Cys) c.3820A>T (p.Ser1274Cys) c.3880A>T (p.Ser1294Cys) c.3532A>T (p.Ser1178Cys) c.3361A>T (p.Ser1121Cys) c.3247A>T (p.Ser1083Cys) c.2809A>T (p.Ser937Cys) n.4077A>T | |
3 | g.47000001G>A | CA2361103 | NBEAL2 | c.3902G>A (p.Ser1301Asn) c.3800G>A (p.Ser1267Asn) n.239G>A c.1960-195G>A c.374G>A (p.Ser125Asn) c.3821G>A (p.Ser1274Asn) c.3881G>A (p.Ser1294Asn) c.3533G>A (p.Ser1178Asn) c.3362G>A (p.Ser1121Asn) c.3248G>A (p.Ser1083Asn) c.2810G>A (p.Ser937Asn) n.4078G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.47000001G>C | CA352516319 | NBEAL2 | c.3902G>C (p.Ser1301Thr) c.3800G>C (p.Ser1267Thr) n.239G>C c.1960-195G>C c.374G>C (p.Ser125Thr) c.3821G>C (p.Ser1274Thr) c.3881G>C (p.Ser1294Thr) c.3533G>C (p.Ser1178Thr) c.3362G>C (p.Ser1121Thr) c.3248G>C (p.Ser1083Thr) c.2810G>C (p.Ser937Thr) n.4078G>C | |
3 | g.47000001G= | CA1362362966 | NBEAL2 | c.3902G= (p.Ser1301=) c.3800G= (p.Ser1267=) n.239G= c.1960-195G= c.374G= (p.Ser125=) c.3821G= (p.Ser1274=) c.3881G= (p.Ser1294=) c.3533G= (p.Ser1178=) c.3362G= (p.Ser1121=) c.3248G= (p.Ser1083=) c.2810G= (p.Ser937=) n.4078G= | |
3 | g.47000001G>T | CA352516320 | NBEAL2 | c.3902G>T (p.Ser1301Ile) c.3800G>T (p.Ser1267Ile) n.239G>T c.1960-195G>T c.374G>T (p.Ser125Ile) c.3821G>T (p.Ser1274Ile) c.3881G>T (p.Ser1294Ile) c.3533G>T (p.Ser1178Ile) c.3362G>T (p.Ser1121Ile) c.3248G>T (p.Ser1083Ile) c.2810G>T (p.Ser937Ile) n.4078G>T | |
3 | g.47000002C>A | CA352516321 | NBEAL2 | c.3903C>A (p.Ser1301Arg) c.3801C>A (p.Ser1267Arg) n.240C>A c.1960-194C>A c.375C>A (p.Ser125Arg) c.3822C>A (p.Ser1274Arg) c.3882C>A (p.Ser1294Arg) c.3534C>A (p.Ser1178Arg) c.3363C>A (p.Ser1121Arg) c.3249C>A (p.Ser1083Arg) c.2811C>A (p.Ser937Arg) n.4079C>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.47000002C= | CA1362362967 | NBEAL2 | c.3903C= (p.Ser1301=) c.3801C= (p.Ser1267=) n.240C= c.1960-194C= c.375C= (p.Ser125=) c.3822C= (p.Ser1274=) c.3882C= (p.Ser1294=) c.3534C= (p.Ser1178=) c.3363C= (p.Ser1121=) c.3249C= (p.Ser1083=) c.2811C= (p.Ser937=) n.4079C= | |
3 | g.47000002C>G | CA352516322 | NBEAL2 | c.3903C>G (p.Ser1301Arg) c.3801C>G (p.Ser1267Arg) n.240C>G c.1960-194C>G c.375C>G (p.Ser125Arg) c.3822C>G (p.Ser1274Arg) c.3882C>G (p.Ser1294Arg) c.3534C>G (p.Ser1178Arg) c.3363C>G (p.Ser1121Arg) c.3249C>G (p.Ser1083Arg) c.2811C>G (p.Ser937Arg) n.4079C>G | |
3 | g.47000002C>T | CA433598180 | NBEAL2 | c.3903C>T (p.Ser1301=) c.3801C>T (p.Ser1267=) n.240C>T c.1960-194C>T c.375C>T (p.Ser125=) c.3822C>T (p.Ser1274=) c.3882C>T (p.Ser1294=) c.3534C>T (p.Ser1178=) c.3363C>T (p.Ser1121=) c.3249C>T (p.Ser1083=) c.2811C>T (p.Ser937=) n.4079C>T | dbSNP gnomAD v2 gnomAD v4 |
3 | g.47000007dup | CA543042187 | NBEAL2 | c.3908dup (p.Pro1304SerfsTer20) c.3806dup (p.Pro1270SerfsTer20) n.245dup c.1960-189dup c.380dup (p.Pro128SerfsTer20) c.3827dup (p.Pro1277SerfsTer20) c.3887dup (p.Pro1297SerfsTer20) c.3539dup (p.Pro1181SerfsTer20) c.3368dup (p.Pro1124SerfsTer20) c.3254dup (p.Pro1086SerfsTer20) c.2816dup (p.Pro940SerfsTer20) n.4084dup | dbSNP gnomAD v2 gnomAD v4 COSMIC |
3 | g.47000007del | CA645526743 | NBEAL2 | c.3908del (p.Pro1303LeufsTer?) c.3806del (p.Pro1269LeufsTer?) n.245del c.1960-189del c.380del (p.Pro127LeufsTer?) c.3827del (p.Pro1276LeufsTer?) c.3887del (p.Pro1296LeufsTer?) c.3539del (p.Pro1180LeufsTer?) c.3368del (p.Pro1123LeufsTer?) c.3254del (p.Pro1085LeufsTer?) c.2816del (p.Pro939LeufsTer?) n.4084del | COSMIC |
3 | g.47000003C>A | CA352516325 | NBEAL2 | c.3904C>A (p.Pro1302Thr) c.3802C>A (p.Pro1268Thr) n.241C>A c.1960-193C>A c.376C>A (p.Pro126Thr) c.3823C>A (p.Pro1275Thr) c.3883C>A (p.Pro1295Thr) c.3535C>A (p.Pro1179Thr) c.3364C>A (p.Pro1122Thr) c.3250C>A (p.Pro1084Thr) c.2812C>A (p.Pro938Thr) n.4080C>A | |
3 | g.47000003C>G | CA352516324 | NBEAL2 | c.3904C>G (p.Pro1302Ala) c.3802C>G (p.Pro1268Ala) n.241C>G c.1960-193C>G c.376C>G (p.Pro126Ala) c.3823C>G (p.Pro1275Ala) c.3883C>G (p.Pro1295Ala) c.3535C>G (p.Pro1179Ala) c.3364C>G (p.Pro1122Ala) c.3250C>G (p.Pro1084Ala) c.2812C>G (p.Pro938Ala) n.4080C>G | |
3 | g.47000003C>T | CA352516323 | NBEAL2 | c.3904C>T (p.Pro1302Ser) c.3802C>T (p.Pro1268Ser) n.241C>T c.1960-193C>T c.376C>T (p.Pro126Ser) c.3823C>T (p.Pro1275Ser) c.3883C>T (p.Pro1295Ser) c.3535C>T (p.Pro1179Ser) c.3364C>T (p.Pro1122Ser) c.3250C>T (p.Pro1084Ser) c.2812C>T (p.Pro938Ser) n.4080C>T | |
3 | g.47000004C>A | CA352516326 | NBEAL2 | c.3905C>A (p.Pro1302His) c.3803C>A (p.Pro1268His) n.242C>A c.1960-192C>A c.377C>A (p.Pro126His) c.3824C>A (p.Pro1275His) c.3884C>A (p.Pro1295His) c.3536C>A (p.Pro1179His) c.3365C>A (p.Pro1122His) c.3251C>A (p.Pro1084His) c.2813C>A (p.Pro938His) n.4081C>A | gnomAD v4 |
3 | g.47000004C>G | CA352516327 | NBEAL2 | c.3905C>G (p.Pro1302Arg) c.3803C>G (p.Pro1268Arg) n.242C>G c.1960-192C>G c.377C>G (p.Pro126Arg) c.3824C>G (p.Pro1275Arg) c.3884C>G (p.Pro1295Arg) c.3536C>G (p.Pro1179Arg) c.3365C>G (p.Pro1122Arg) c.3251C>G (p.Pro1084Arg) c.2813C>G (p.Pro938Arg) n.4081C>G | |
3 | g.47000004C>T | CA352516328 | NBEAL2 | c.3905C>T (p.Pro1302Leu) c.3803C>T (p.Pro1268Leu) n.242C>T c.1960-192C>T c.377C>T (p.Pro126Leu) c.3824C>T (p.Pro1275Leu) c.3884C>T (p.Pro1295Leu) c.3536C>T (p.Pro1179Leu) c.3365C>T (p.Pro1122Leu) c.3251C>T (p.Pro1084Leu) c.2813C>T (p.Pro938Leu) n.4081C>T | gnomAD v4 COSMIC |
3 | g.47000005C>A | CA433598181 | NBEAL2 | c.3906C>A (p.Pro1302=) c.3804C>A (p.Pro1268=) n.243C>A c.1960-191C>A c.378C>A (p.Pro126=) c.3825C>A (p.Pro1275=) c.3885C>A (p.Pro1295=) c.3537C>A (p.Pro1179=) c.3366C>A (p.Pro1122=) c.3252C>A (p.Pro1084=) c.2814C>A (p.Pro938=) n.4082C>A | |
3 | g.47000005C= | CA1362362968 | NBEAL2 | c.3906C= (p.Pro1302=) c.3804C= (p.Pro1268=) n.243C= c.1960-191C= c.378C= (p.Pro126=) c.3825C= (p.Pro1275=) c.3885C= (p.Pro1295=) c.3537C= (p.Pro1179=) c.3366C= (p.Pro1122=) c.3252C= (p.Pro1084=) c.2814C= (p.Pro938=) n.4082C= | |
3 | g.47000005C>G | CA2361104 | NBEAL2 | c.3906C>G (p.Pro1302=) c.3804C>G (p.Pro1268=) n.243C>G c.1960-191C>G c.378C>G (p.Pro126=) c.3825C>G (p.Pro1275=) c.3885C>G (p.Pro1295=) c.3537C>G (p.Pro1179=) c.3366C>G (p.Pro1122=) c.3252C>G (p.Pro1084=) c.2814C>G (p.Pro938=) n.4082C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.47000005C>T | CA433598182 | NBEAL2 | c.3906C>T (p.Pro1302=) c.3804C>T (p.Pro1268=) n.243C>T c.1960-191C>T c.378C>T (p.Pro126=) c.3825C>T (p.Pro1275=) c.3885C>T (p.Pro1295=) c.3537C>T (p.Pro1179=) c.3366C>T (p.Pro1122=) c.3252C>T (p.Pro1084=) c.2814C>T (p.Pro938=) n.4082C>T | dbSNP gnomAD v3 gnomAD v4 |
3 | g.47000006C>A | CA2361105 | NBEAL2 | c.3907C>A (p.Pro1303Thr) c.3805C>A (p.Pro1269Thr) n.244C>A c.1960-190C>A c.379C>A (p.Pro127Thr) c.3826C>A (p.Pro1276Thr) c.3886C>A (p.Pro1296Thr) c.3538C>A (p.Pro1180Thr) c.3367C>A (p.Pro1123Thr) c.3253C>A (p.Pro1085Thr) c.2815C>A (p.Pro939Thr) n.4083C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.47000006C= | CA1362362969 | NBEAL2 | c.3907C= (p.Pro1303=) c.3805C= (p.Pro1269=) n.244C= c.1960-190C= c.379C= (p.Pro127=) c.3826C= (p.Pro1276=) c.3886C= (p.Pro1296=) c.3538C= (p.Pro1180=) c.3367C= (p.Pro1123=) c.3253C= (p.Pro1085=) c.2815C= (p.Pro939=) n.4083C= | |
3 | g.47000006C>G | CA2361106 | NBEAL2 | c.3907C>G (p.Pro1303Ala) c.3805C>G (p.Pro1269Ala) n.244C>G c.1960-190C>G c.379C>G (p.Pro127Ala) c.3826C>G (p.Pro1276Ala) c.3886C>G (p.Pro1296Ala) c.3538C>G (p.Pro1180Ala) c.3367C>G (p.Pro1123Ala) c.3253C>G (p.Pro1085Ala) c.2815C>G (p.Pro939Ala) n.4083C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.47000006C>T | CA352516329 | NBEAL2 | c.3907C>T (p.Pro1303Ser) c.3805C>T (p.Pro1269Ser) n.244C>T c.1960-190C>T c.379C>T (p.Pro127Ser) c.3826C>T (p.Pro1276Ser) c.3886C>T (p.Pro1296Ser) c.3538C>T (p.Pro1180Ser) c.3367C>T (p.Pro1123Ser) c.3253C>T (p.Pro1085Ser) c.2815C>T (p.Pro939Ser) n.4083C>T | dbSNP gnomAD v2 gnomAD v4 |
3 | g.47000007C>A | CA352516330 | NBEAL2 | c.3908C>A (p.Pro1303His) c.3806C>A (p.Pro1269His) n.245C>A c.1960-189C>A c.380C>A (p.Pro127His) c.3827C>A (p.Pro1276His) c.3887C>A (p.Pro1296His) c.3539C>A (p.Pro1180His) c.3368C>A (p.Pro1123His) c.3254C>A (p.Pro1085His) c.2816C>A (p.Pro939His) n.4084C>A | |
3 | g.47000007C= | CA1362362970 | NBEAL2 | c.3908C= (p.Pro1303=) c.3806C= (p.Pro1269=) n.245C= c.1960-189C= c.380C= (p.Pro127=) c.3827C= (p.Pro1276=) c.3887C= (p.Pro1296=) c.3539C= (p.Pro1180=) c.3368C= (p.Pro1123=) c.3254C= (p.Pro1085=) c.2816C= (p.Pro939=) n.4084C= | |
3 | g.47000007C>G | CA352516331 | NBEAL2 | c.3908C>G (p.Pro1303Arg) c.3806C>G (p.Pro1269Arg) n.245C>G c.1960-189C>G c.380C>G (p.Pro127Arg) c.3827C>G (p.Pro1276Arg) c.3887C>G (p.Pro1296Arg) c.3539C>G (p.Pro1180Arg) c.3368C>G (p.Pro1123Arg) c.3254C>G (p.Pro1085Arg) c.2816C>G (p.Pro939Arg) n.4084C>G | |
3 | g.47000007C>T | CA2361107 | NBEAL2 | c.3908C>T (p.Pro1303Leu) c.3806C>T (p.Pro1269Leu) n.245C>T c.1960-189C>T c.380C>T (p.Pro127Leu) c.3827C>T (p.Pro1276Leu) c.3887C>T (p.Pro1296Leu) c.3539C>T (p.Pro1180Leu) c.3368C>T (p.Pro1123Leu) c.3254C>T (p.Pro1085Leu) c.2816C>T (p.Pro939Leu) n.4084C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.47000008T>A | CA433598183 | NBEAL2 | c.3909T>A (p.Pro1303=) c.3807T>A (p.Pro1269=) n.246T>A c.1960-188T>A c.381T>A (p.Pro127=) c.3828T>A (p.Pro1276=) c.3888T>A (p.Pro1296=) c.3540T>A (p.Pro1180=) c.3369T>A (p.Pro1123=) c.3255T>A (p.Pro1085=) c.2817T>A (p.Pro939=) n.4085T>A | gnomAD v4 |
3 | g.47000008T>C | CA433598184 | NBEAL2 | c.3909T>C (p.Pro1303=) c.3807T>C (p.Pro1269=) n.246T>C c.1960-188T>C c.381T>C (p.Pro127=) c.3828T>C (p.Pro1276=) c.3888T>C (p.Pro1296=) c.3540T>C (p.Pro1180=) c.3369T>C (p.Pro1123=) c.3255T>C (p.Pro1085=) c.2817T>C (p.Pro939=) n.4085T>C | |
3 | g.47000008T>G | CA433598185 | NBEAL2 | c.3909T>G (p.Pro1303=) c.3807T>G (p.Pro1269=) n.246T>G c.1960-188T>G c.381T>G (p.Pro127=) c.3828T>G (p.Pro1276=) c.3888T>G (p.Pro1296=) c.3540T>G (p.Pro1180=) c.3369T>G (p.Pro1123=) c.3255T>G (p.Pro1085=) c.2817T>G (p.Pro939=) n.4085T>G | dbSNP |
3 | g.47000008dup | CA2586972409 | NBEAL2 | c.3909dup (p.Pro1304SerfsTer20) c.3807dup (p.Pro1270SerfsTer20) n.246dup c.1960-188dup c.381dup (p.Pro128SerfsTer20) c.3828dup (p.Pro1277SerfsTer20) c.3888dup (p.Pro1297SerfsTer20) c.3540dup (p.Pro1181SerfsTer20) c.3369dup (p.Pro1124SerfsTer20) c.3255dup (p.Pro1086SerfsTer20) c.2817dup (p.Pro940SerfsTer20) n.4085dup | |
3 | g.47000009C>A | CA352516332 | NBEAL2 | c.3910C>A (p.Pro1304Thr) c.3808C>A (p.Pro1270Thr) n.247C>A c.1960-187C>A c.382C>A (p.Pro128Thr) c.3829C>A (p.Pro1277Thr) c.3889C>A (p.Pro1297Thr) c.3541C>A (p.Pro1181Thr) c.3370C>A (p.Pro1124Thr) c.3256C>A (p.Pro1086Thr) c.2818C>A (p.Pro940Thr) n.4086C>A | |
3 | g.47000009C= | CA1362362971 | NBEAL2 | c.3910C= (p.Pro1304=) c.3808C= (p.Pro1270=) n.247C= c.1960-187C= c.382C= (p.Pro128=) c.3829C= (p.Pro1277=) c.3889C= (p.Pro1297=) c.3541C= (p.Pro1181=) c.3370C= (p.Pro1124=) c.3256C= (p.Pro1086=) c.2818C= (p.Pro940=) n.4086C= | |
3 | g.47000009C>G | CA352516333 | NBEAL2 | c.3910C>G (p.Pro1304Ala) c.3808C>G (p.Pro1270Ala) n.247C>G c.1960-187C>G c.382C>G (p.Pro128Ala) c.3829C>G (p.Pro1277Ala) c.3889C>G (p.Pro1297Ala) c.3541C>G (p.Pro1181Ala) c.3370C>G (p.Pro1124Ala) c.3256C>G (p.Pro1086Ala) c.2818C>G (p.Pro940Ala) n.4086C>G | |
3 | g.47000009C>T | CA352516334 | NBEAL2 | c.3910C>T (p.Pro1304Ser) c.3808C>T (p.Pro1270Ser) n.247C>T c.1960-187C>T c.382C>T (p.Pro128Ser) c.3829C>T (p.Pro1277Ser) c.3889C>T (p.Pro1297Ser) c.3541C>T (p.Pro1181Ser) c.3370C>T (p.Pro1124Ser) c.3256C>T (p.Pro1086Ser) c.2818C>T (p.Pro940Ser) n.4086C>T | dbSNP gnomAD v2 |
3 | g.47000010C>A | CA352516336 | NBEAL2 | c.3911C>A (p.Pro1304Gln) c.3809C>A (p.Pro1270Gln) n.248C>A c.1960-186C>A c.383C>A (p.Pro128Gln) c.3830C>A (p.Pro1277Gln) c.3890C>A (p.Pro1297Gln) c.3542C>A (p.Pro1181Gln) c.3371C>A (p.Pro1124Gln) c.3257C>A (p.Pro1086Gln) c.2819C>A (p.Pro940Gln) n.4087C>A | |
3 | g.47000010C= | CA1362362972 | NBEAL2 | c.3911C= (p.Pro1304=) c.3809C= (p.Pro1270=) n.248C= c.1960-186C= c.383C= (p.Pro128=) c.3830C= (p.Pro1277=) c.3890C= (p.Pro1297=) c.3542C= (p.Pro1181=) c.3371C= (p.Pro1124=) c.3257C= (p.Pro1086=) c.2819C= (p.Pro940=) n.4087C= | |
3 | g.47000010C>G | CA352516335 | NBEAL2 | c.3911C>G (p.Pro1304Arg) c.3809C>G (p.Pro1270Arg) n.248C>G c.1960-186C>G c.383C>G (p.Pro128Arg) c.3830C>G (p.Pro1277Arg) c.3890C>G (p.Pro1297Arg) c.3542C>G (p.Pro1181Arg) c.3371C>G (p.Pro1124Arg) c.3257C>G (p.Pro1086Arg) c.2819C>G (p.Pro940Arg) n.4087C>G | |
3 | g.47000010C>T | CA2361108 | NBEAL2 | c.3911C>T (p.Pro1304Leu) c.3809C>T (p.Pro1270Leu) n.248C>T c.1960-186C>T c.383C>T (p.Pro128Leu) c.3830C>T (p.Pro1277Leu) c.3890C>T (p.Pro1297Leu) c.3542C>T (p.Pro1181Leu) c.3371C>T (p.Pro1124Leu) c.3257C>T (p.Pro1086Leu) c.2819C>T (p.Pro940Leu) n.4087C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.47000011G>A | CA433598186 | NBEAL2 | c.3912G>A (p.Pro1304=) c.3810G>A (p.Pro1270=) n.249G>A c.1960-185G>A c.384G>A (p.Pro128=) c.3831G>A (p.Pro1277=) c.3891G>A (p.Pro1297=) c.3543G>A (p.Pro1181=) c.3372G>A (p.Pro1124=) c.3258G>A (p.Pro1086=) c.2820G>A (p.Pro940=) n.4088G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.47000011G>C | CA433598187 | NBEAL2 | c.3912G>C (p.Pro1304=) c.3810G>C (p.Pro1270=) n.249G>C c.1960-185G>C c.384G>C (p.Pro128=) c.3831G>C (p.Pro1277=) c.3891G>C (p.Pro1297=) c.3543G>C (p.Pro1181=) c.3372G>C (p.Pro1124=) c.3258G>C (p.Pro1086=) c.2820G>C (p.Pro940=) n.4088G>C | |
3 | g.47000011G= | CA1362362973 | NBEAL2 | c.3912G= (p.Pro1304=) c.3810G= (p.Pro1270=) n.249G= c.1960-185G= c.384G= (p.Pro128=) c.3831G= (p.Pro1277=) c.3891G= (p.Pro1297=) c.3543G= (p.Pro1181=) c.3372G= (p.Pro1124=) c.3258G= (p.Pro1086=) c.2820G= (p.Pro940=) n.4088G= | |
3 | g.47000011G>T | CA433598188 | NBEAL2 | c.3912G>T (p.Pro1304=) c.3810G>T (p.Pro1270=) n.249G>T c.1960-185G>T c.384G>T (p.Pro128=) c.3831G>T (p.Pro1277=) c.3891G>T (p.Pro1297=) c.3543G>T (p.Pro1181=) c.3372G>T (p.Pro1124=) c.3258G>T (p.Pro1086=) c.2820G>T (p.Pro940=) n.4088G>T | gnomAD v4 |
3 | g.47000012T>A | CA352516337 | NBEAL2 | c.3913T>A (p.Ser1305Thr) c.3811T>A (p.Ser1271Thr) n.250T>A c.1960-184T>A c.385T>A (p.Ser129Thr) c.3832T>A (p.Ser1278Thr) c.3892T>A (p.Ser1298Thr) c.3544T>A (p.Ser1182Thr) c.3373T>A (p.Ser1125Thr) c.3259T>A (p.Ser1087Thr) c.2821T>A (p.Ser941Thr) n.4089T>A | |
3 | g.47000012T>C | CA352516338 | NBEAL2 | c.3913T>C (p.Ser1305Pro) c.3811T>C (p.Ser1271Pro) n.250T>C c.1960-184T>C c.385T>C (p.Ser129Pro) c.3832T>C (p.Ser1278Pro) c.3892T>C (p.Ser1298Pro) c.3544T>C (p.Ser1182Pro) c.3373T>C (p.Ser1125Pro) c.3259T>C (p.Ser1087Pro) c.2821T>C (p.Ser941Pro) n.4089T>C | |
3 | g.47000012T>G | CA352516339 | NBEAL2 | c.3913T>G (p.Ser1305Ala) c.3811T>G (p.Ser1271Ala) n.250T>G c.1960-184T>G c.385T>G (p.Ser129Ala) c.3832T>G (p.Ser1278Ala) c.3892T>G (p.Ser1298Ala) c.3544T>G (p.Ser1182Ala) c.3373T>G (p.Ser1125Ala) c.3259T>G (p.Ser1087Ala) c.2821T>G (p.Ser941Ala) n.4089T>G | dbSNP |
3 | g.47000013C>A | CA352516340 | NBEAL2 | c.3914C>A (p.Ser1305Tyr) c.3812C>A (p.Ser1271Tyr) n.251C>A c.1960-183C>A c.386C>A (p.Ser129Tyr) c.3833C>A (p.Ser1278Tyr) c.3893C>A (p.Ser1298Tyr) c.3545C>A (p.Ser1182Tyr) c.3374C>A (p.Ser1125Tyr) c.3260C>A (p.Ser1087Tyr) c.2822C>A (p.Ser941Tyr) n.4090C>A | |
3 | g.47000013C>G | CA352516341 | NBEAL2 | c.3914C>G (p.Ser1305Cys) c.3812C>G (p.Ser1271Cys) n.251C>G c.1960-183C>G c.386C>G (p.Ser129Cys) c.3833C>G (p.Ser1278Cys) c.3893C>G (p.Ser1298Cys) c.3545C>G (p.Ser1182Cys) c.3374C>G (p.Ser1125Cys) c.3260C>G (p.Ser1087Cys) c.2822C>G (p.Ser941Cys) n.4090C>G | |
3 | g.47000013C>T | CA352516342 | NBEAL2 | c.3914C>T (p.Ser1305Phe) c.3812C>T (p.Ser1271Phe) n.251C>T c.1960-183C>T c.386C>T (p.Ser129Phe) c.3833C>T (p.Ser1278Phe) c.3893C>T (p.Ser1298Phe) c.3545C>T (p.Ser1182Phe) c.3374C>T (p.Ser1125Phe) c.3260C>T (p.Ser1087Phe) c.2822C>T (p.Ser941Phe) n.4090C>T | |
3 | g.47000014T>A | CA433598189 | NBEAL2 | c.3915T>A (p.Ser1305=) c.3813T>A (p.Ser1271=) n.252T>A c.1960-182T>A c.387T>A (p.Ser129=) c.3834T>A (p.Ser1278=) c.3894T>A (p.Ser1298=) c.3546T>A (p.Ser1182=) c.3375T>A (p.Ser1125=) c.3261T>A (p.Ser1087=) c.2823T>A (p.Ser941=) n.4091T>A | |
3 | g.47000014T>C | CA433598190 | NBEAL2 | c.3915T>C (p.Ser1305=) c.3813T>C (p.Ser1271=) n.252T>C c.1960-182T>C c.387T>C (p.Ser129=) c.3834T>C (p.Ser1278=) c.3894T>C (p.Ser1298=) c.3546T>C (p.Ser1182=) c.3375T>C (p.Ser1125=) c.3261T>C (p.Ser1087=) c.2823T>C (p.Ser941=) n.4091T>C | |
3 | g.47000014T>G | CA433598191 | NBEAL2 | c.3915T>G (p.Ser1305=) c.3813T>G (p.Ser1271=) n.252T>G c.1960-182T>G c.387T>G (p.Ser129=) c.3834T>G (p.Ser1278=) c.3894T>G (p.Ser1298=) c.3546T>G (p.Ser1182=) c.3375T>G (p.Ser1125=) c.3261T>G (p.Ser1087=) c.2823T>G (p.Ser941=) n.4091T>G | |
3 | g.47000015T>A | CA352516343 | NBEAL2 | c.3916T>A (p.Ser1306Thr) c.3814T>A (p.Ser1272Thr) n.253T>A c.1960-181T>A c.388T>A (p.Ser130Thr) c.3835T>A (p.Ser1279Thr) c.3895T>A (p.Ser1299Thr) c.3547T>A (p.Ser1183Thr) c.3376T>A (p.Ser1126Thr) c.3262T>A (p.Ser1088Thr) c.2824T>A (p.Ser942Thr) n.4092T>A | |
3 | g.47000015T>C | CA352516344 | NBEAL2 | c.3916T>C (p.Ser1306Pro) c.3814T>C (p.Ser1272Pro) n.253T>C c.1960-181T>C c.388T>C (p.Ser130Pro) c.3835T>C (p.Ser1279Pro) c.3895T>C (p.Ser1299Pro) c.3547T>C (p.Ser1183Pro) c.3376T>C (p.Ser1126Pro) c.3262T>C (p.Ser1088Pro) c.2824T>C (p.Ser942Pro) n.4092T>C | |
3 | g.47000015T>G | CA352516345 | NBEAL2 | c.3916T>G (p.Ser1306Ala) c.3814T>G (p.Ser1272Ala) n.253T>G c.1960-181T>G c.388T>G (p.Ser130Ala) c.3835T>G (p.Ser1279Ala) c.3895T>G (p.Ser1299Ala) c.3547T>G (p.Ser1183Ala) c.3376T>G (p.Ser1126Ala) c.3262T>G (p.Ser1088Ala) c.2824T>G (p.Ser942Ala) n.4092T>G | |
3 | g.47000016C>A | CA352516346 | NBEAL2 | c.3917C>A (p.Ser1306Tyr) c.3815C>A (p.Ser1272Tyr) n.254C>A c.1960-180C>A c.389C>A (p.Ser130Tyr) c.3836C>A (p.Ser1279Tyr) c.3896C>A (p.Ser1299Tyr) c.3548C>A (p.Ser1183Tyr) c.3377C>A (p.Ser1126Tyr) c.3263C>A (p.Ser1088Tyr) c.2825C>A (p.Ser942Tyr) n.4093C>A | |
3 | g.47000016C>G | CA352516347 | NBEAL2 | c.3917C>G (p.Ser1306Cys) c.3815C>G (p.Ser1272Cys) n.254C>G c.1960-180C>G c.389C>G (p.Ser130Cys) c.3836C>G (p.Ser1279Cys) c.3896C>G (p.Ser1299Cys) c.3548C>G (p.Ser1183Cys) c.3377C>G (p.Ser1126Cys) c.3263C>G (p.Ser1088Cys) c.2825C>G (p.Ser942Cys) n.4093C>G | |
3 | g.47000016C>T | CA352516348 | NBEAL2 | c.3917C>T (p.Ser1306Phe) c.3815C>T (p.Ser1272Phe) n.254C>T c.1960-180C>T c.389C>T (p.Ser130Phe) c.3836C>T (p.Ser1279Phe) c.3896C>T (p.Ser1299Phe) c.3548C>T (p.Ser1183Phe) c.3377C>T (p.Ser1126Phe) c.3263C>T (p.Ser1088Phe) c.2825C>T (p.Ser942Phe) n.4093C>T | |
3 | g.47000019del | CA2665493218 | NBEAL2 | c.3920del (p.Pro1307GlnfsTer?) c.3818del (p.Pro1273GlnfsTer?) n.257del c.1960-177del c.392del (p.Pro131GlnfsTer?) c.3839del (p.Pro1280GlnfsTer?) c.3899del (p.Pro1300GlnfsTer?) c.3551del (p.Pro1184GlnfsTer?) c.3380del (p.Pro1127GlnfsTer?) c.3266del (p.Pro1089GlnfsTer?) c.2828del (p.Pro943GlnfsTer?) n.4096del | ClinVar gnomAD v4 |
3 | g.47000017C>A | CA433598192 | NBEAL2 | c.3918C>A (p.Ser1306=) c.3816C>A (p.Ser1272=) n.255C>A c.1960-179C>A c.390C>A (p.Ser130=) c.3837C>A (p.Ser1279=) c.3897C>A (p.Ser1299=) c.3549C>A (p.Ser1183=) c.3378C>A (p.Ser1126=) c.3264C>A (p.Ser1088=) c.2826C>A (p.Ser942=) n.4094C>A | |
3 | g.47000017C= | CA1362362974 | NBEAL2 | c.3918C= (p.Ser1306=) c.3816C= (p.Ser1272=) n.255C= c.1960-179C= c.390C= (p.Ser130=) c.3837C= (p.Ser1279=) c.3897C= (p.Ser1299=) c.3549C= (p.Ser1183=) c.3378C= (p.Ser1126=) c.3264C= (p.Ser1088=) c.2826C= (p.Ser942=) n.4094C= | |
3 | g.47000017C>G | CA433598193 | NBEAL2 | c.3918C>G (p.Ser1306=) c.3816C>G (p.Ser1272=) n.255C>G c.1960-179C>G c.390C>G (p.Ser130=) c.3837C>G (p.Ser1279=) c.3897C>G (p.Ser1299=) c.3549C>G (p.Ser1183=) c.3378C>G (p.Ser1126=) c.3264C>G (p.Ser1088=) c.2826C>G (p.Ser942=) n.4094C>G | |
3 | g.47000017C>T | CA2361109 | NBEAL2 | c.3918C>T (p.Ser1306=) c.3816C>T (p.Ser1272=) n.255C>T c.1960-179C>T c.390C>T (p.Ser130=) c.3837C>T (p.Ser1279=) c.3897C>T (p.Ser1299=) c.3549C>T (p.Ser1183=) c.3378C>T (p.Ser1126=) c.3264C>T (p.Ser1088=) c.2826C>T (p.Ser942=) n.4094C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.47000018C>A | CA352516350 | NBEAL2 | c.3919C>A (p.Pro1307Thr) c.3817C>A (p.Pro1273Thr) n.256C>A c.1960-178C>A c.391C>A (p.Pro131Thr) c.3838C>A (p.Pro1280Thr) c.3898C>A (p.Pro1300Thr) c.3550C>A (p.Pro1184Thr) c.3379C>A (p.Pro1127Thr) c.3265C>A (p.Pro1089Thr) c.2827C>A (p.Pro943Thr) n.4095C>A | |
3 | g.47000018C= | CA1362362975 | NBEAL2 | c.3919C= (p.Pro1307=) c.3817C= (p.Pro1273=) n.256C= c.1960-178C= c.391C= (p.Pro131=) c.3838C= (p.Pro1280=) c.3898C= (p.Pro1300=) c.3550C= (p.Pro1184=) c.3379C= (p.Pro1127=) c.3265C= (p.Pro1089=) c.2827C= (p.Pro943=) n.4095C= | |
3 | g.47000018C>G | CA352516349 | NBEAL2 | c.3919C>G (p.Pro1307Ala) c.3817C>G (p.Pro1273Ala) n.256C>G c.1960-178C>G c.391C>G (p.Pro131Ala) c.3838C>G (p.Pro1280Ala) c.3898C>G (p.Pro1300Ala) c.3550C>G (p.Pro1184Ala) c.3379C>G (p.Pro1127Ala) c.3265C>G (p.Pro1089Ala) c.2827C>G (p.Pro943Ala) n.4095C>G | |
3 | g.47000018C>T | CA2361110 | NBEAL2 | c.3919C>T (p.Pro1307Ser) c.3817C>T (p.Pro1273Ser) n.256C>T c.1960-178C>T c.391C>T (p.Pro131Ser) c.3838C>T (p.Pro1280Ser) c.3898C>T (p.Pro1300Ser) c.3550C>T (p.Pro1184Ser) c.3379C>T (p.Pro1127Ser) c.3265C>T (p.Pro1089Ser) c.2827C>T (p.Pro943Ser) n.4095C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.47000019C>A | CA352516351 | NBEAL2 | c.3920C>A (p.Pro1307Gln) c.3818C>A (p.Pro1273Gln) n.257C>A c.1960-177C>A c.392C>A (p.Pro131Gln) c.3839C>A (p.Pro1280Gln) c.3899C>A (p.Pro1300Gln) c.3551C>A (p.Pro1184Gln) c.3380C>A (p.Pro1127Gln) c.3266C>A (p.Pro1089Gln) c.2828C>A (p.Pro943Gln) n.4096C>A | |
3 | g.47000019C>G | CA352516353 | NBEAL2 | c.3920C>G (p.Pro1307Arg) c.3818C>G (p.Pro1273Arg) n.257C>G c.1960-177C>G c.392C>G (p.Pro131Arg) c.3839C>G (p.Pro1280Arg) c.3899C>G (p.Pro1300Arg) c.3551C>G (p.Pro1184Arg) c.3380C>G (p.Pro1127Arg) c.3266C>G (p.Pro1089Arg) c.2828C>G (p.Pro943Arg) n.4096C>G | |
3 | g.47000019C>T | CA352516354 | NBEAL2 | c.3920C>T (p.Pro1307Leu) c.3818C>T (p.Pro1273Leu) n.257C>T c.1960-177C>T c.392C>T (p.Pro131Leu) c.3839C>T (p.Pro1280Leu) c.3899C>T (p.Pro1300Leu) c.3551C>T (p.Pro1184Leu) c.3380C>T (p.Pro1127Leu) c.3266C>T (p.Pro1089Leu) c.2828C>T (p.Pro943Leu) n.4096C>T | |
3 | g.47000020_47000031del | CA2665493219 | NBEAL2 | c.3921_3932del (p.Glu1308_Thr1311del) c.3819_3830del (p.Glu1274_Thr1277del) n.258_269del c.1960-176_1960-165del c.393_404del (p.Glu132_Thr135del) c.3840_3851del (p.Glu1281_Thr1284del) c.3900_3911del (p.Glu1301_Thr1304del) c.3552_3563del (p.Glu1185_Thr1188del) c.3381_3392del (p.Glu1128_Thr1131del) c.3267_3278del (p.Glu1090_Thr1093del) c.2829_2840del (p.Glu944_Thr947del) n.4097_4108del | gnomAD v4 |
3 | g.47000020A= | CA1362362976 | NBEAL2 | c.3921A= (p.Pro1307=) c.3819A= (p.Pro1273=) n.258A= c.1960-176A= c.393A= (p.Pro131=) c.3840A= (p.Pro1280=) c.3900A= (p.Pro1300=) c.3552A= (p.Pro1184=) c.3381A= (p.Pro1127=) c.3267A= (p.Pro1089=) c.2829A= (p.Pro943=) n.4097A= | |
3 | g.47000020A>C | CA433598194 | NBEAL2 | c.3921A>C (p.Pro1307=) c.3819A>C (p.Pro1273=) n.258A>C c.1960-176A>C c.393A>C (p.Pro131=) c.3840A>C (p.Pro1280=) c.3900A>C (p.Pro1300=) c.3552A>C (p.Pro1184=) c.3381A>C (p.Pro1127=) c.3267A>C (p.Pro1089=) c.2829A>C (p.Pro943=) n.4097A>C | gnomAD v3 gnomAD v4 |
3 | g.47000020A>G | CA2361111 | NBEAL2 | c.3921A>G (p.Pro1307=) c.3819A>G (p.Pro1273=) n.258A>G c.1960-176A>G c.393A>G (p.Pro131=) c.3840A>G (p.Pro1280=) c.3900A>G (p.Pro1300=) c.3552A>G (p.Pro1184=) c.3381A>G (p.Pro1127=) c.3267A>G (p.Pro1089=) c.2829A>G (p.Pro943=) n.4097A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.47000020A>T | CA433598195 | NBEAL2 | c.3921A>T (p.Pro1307=) c.3819A>T (p.Pro1273=) n.258A>T c.1960-176A>T c.393A>T (p.Pro131=) c.3840A>T (p.Pro1280=) c.3900A>T (p.Pro1300=) c.3552A>T (p.Pro1184=) c.3381A>T (p.Pro1127=) c.3267A>T (p.Pro1089=) c.2829A>T (p.Pro943=) n.4097A>T | |
3 | g.47000021G>A | CA352516359 | NBEAL2 | c.3922G>A (p.Glu1308Lys) c.3820G>A (p.Glu1274Lys) n.259G>A c.1960-175G>A c.394G>A (p.Glu132Lys) c.3841G>A (p.Glu1281Lys) c.3901G>A (p.Glu1301Lys) c.3553G>A (p.Glu1185Lys) c.3382G>A (p.Glu1128Lys) c.3268G>A (p.Glu1090Lys) c.2830G>A (p.Glu944Lys) n.4098G>A | |
3 | g.47000021G>C | CA352516360 | NBEAL2 | c.3922G>C (p.Glu1308Gln) c.3820G>C (p.Glu1274Gln) n.259G>C c.1960-175G>C c.394G>C (p.Glu132Gln) c.3841G>C (p.Glu1281Gln) c.3901G>C (p.Glu1301Gln) c.3553G>C (p.Glu1185Gln) c.3382G>C (p.Glu1128Gln) c.3268G>C (p.Glu1090Gln) c.2830G>C (p.Glu944Gln) n.4098G>C | |
3 | g.47000021G>T | CA352516362 | NBEAL2 | c.3922G>T (p.Glu1308Ter) c.3820G>T (p.Glu1274Ter) n.259G>T c.1960-175G>T c.394G>T (p.Glu132Ter) c.3841G>T (p.Glu1281Ter) c.3901G>T (p.Glu1301Ter) c.3553G>T (p.Glu1185Ter) c.3382G>T (p.Glu1128Ter) c.3268G>T (p.Glu1090Ter) c.2830G>T (p.Glu944Ter) n.4098G>T | |
3 | g.47000022A= | CA1362362977 | NBEAL2 | c.3923A= (p.Glu1308=) c.3821A= (p.Glu1274=) n.260A= c.1960-174A= c.395A= (p.Glu132=) c.3842A= (p.Glu1281=) c.3902A= (p.Glu1301=) c.3554A= (p.Glu1185=) c.3383A= (p.Glu1128=) c.3269A= (p.Glu1090=) c.2831A= (p.Glu944=) n.4099A= | |
3 | g.47000022A>C | CA2361112 | NBEAL2 | c.3923A>C (p.Glu1308Ala) c.3821A>C (p.Glu1274Ala) n.260A>C c.1960-174A>C c.395A>C (p.Glu132Ala) c.3842A>C (p.Glu1281Ala) c.3902A>C (p.Glu1301Ala) c.3554A>C (p.Glu1185Ala) c.3383A>C (p.Glu1128Ala) c.3269A>C (p.Glu1090Ala) c.2831A>C (p.Glu944Ala) n.4099A>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.47000022A>G | CA352516365 | NBEAL2 | c.3923A>G (p.Glu1308Gly) c.3821A>G (p.Glu1274Gly) n.260A>G c.1960-174A>G c.395A>G (p.Glu132Gly) c.3842A>G (p.Glu1281Gly) c.3902A>G (p.Glu1301Gly) c.3554A>G (p.Glu1185Gly) c.3383A>G (p.Glu1128Gly) c.3269A>G (p.Glu1090Gly) c.2831A>G (p.Glu944Gly) n.4099A>G | dbSNP gnomAD v2 gnomAD v4 |
3 | g.47000022A>T | CA352516366 | NBEAL2 | c.3923A>T (p.Glu1308Val) c.3821A>T (p.Glu1274Val) n.260A>T c.1960-174A>T c.395A>T (p.Glu132Val) c.3842A>T (p.Glu1281Val) c.3902A>T (p.Glu1301Val) c.3554A>T (p.Glu1185Val) c.3383A>T (p.Glu1128Val) c.3269A>T (p.Glu1090Val) c.2831A>T (p.Glu944Val) n.4099A>T | |
3 | g.47000023G>A | CA433598196 | NBEAL2 | c.3924G>A (p.Glu1308=) c.3822G>A (p.Glu1274=) n.261G>A c.1960-173G>A c.396G>A (p.Glu132=) c.3843G>A (p.Glu1281=) c.3903G>A (p.Glu1301=) c.3555G>A (p.Glu1185=) c.3384G>A (p.Glu1128=) c.3270G>A (p.Glu1090=) c.2832G>A (p.Glu944=) n.4100G>A | dbSNP gnomAD v4 |
3 | g.47000023G>C | CA352516368 | NBEAL2 | c.3924G>C (p.Glu1308Asp) c.3822G>C (p.Glu1274Asp) n.261G>C c.1960-173G>C c.396G>C (p.Glu132Asp) c.3843G>C (p.Glu1281Asp) c.3903G>C (p.Glu1301Asp) c.3555G>C (p.Glu1185Asp) c.3384G>C (p.Glu1128Asp) c.3270G>C (p.Glu1090Asp) c.2832G>C (p.Glu944Asp) n.4100G>C | |
3 | g.47000023G= | CA1362362978 | NBEAL2 | c.3924G= (p.Glu1308=) c.3822G= (p.Glu1274=) n.261G= c.1960-173G= c.396G= (p.Glu132=) c.3843G= (p.Glu1281=) c.3903G= (p.Glu1301=) c.3555G= (p.Glu1185=) c.3384G= (p.Glu1128=) c.3270G= (p.Glu1090=) c.2832G= (p.Glu944=) n.4100G= | |
3 | g.47000023G>T | CA352516370 | NBEAL2 | c.3924G>T (p.Glu1308Asp) c.3822G>T (p.Glu1274Asp) n.261G>T c.1960-173G>T c.396G>T (p.Glu132Asp) c.3843G>T (p.Glu1281Asp) c.3903G>T (p.Glu1301Asp) c.3555G>T (p.Glu1185Asp) c.3384G>T (p.Glu1128Asp) c.3270G>T (p.Glu1090Asp) c.2832G>T (p.Glu944Asp) n.4100G>T | gnomAD v4 |
3 | g.47000024T>A | CA352516373 | NBEAL2 | c.3925T>A (p.Ser1309Thr) c.3823T>A (p.Ser1275Thr) n.262T>A c.1960-172T>A c.397T>A (p.Ser133Thr) c.3844T>A (p.Ser1282Thr) c.3904T>A (p.Ser1302Thr) c.3556T>A (p.Ser1186Thr) c.3385T>A (p.Ser1129Thr) c.3271T>A (p.Ser1091Thr) c.2833T>A (p.Ser945Thr) n.4101T>A | |
3 | g.47000024T>C | CA352516377 | NBEAL2 | c.3925T>C (p.Ser1309Pro) c.3823T>C (p.Ser1275Pro) n.262T>C c.1960-172T>C c.397T>C (p.Ser133Pro) c.3844T>C (p.Ser1282Pro) c.3904T>C (p.Ser1302Pro) c.3556T>C (p.Ser1186Pro) c.3385T>C (p.Ser1129Pro) c.3271T>C (p.Ser1091Pro) c.2833T>C (p.Ser945Pro) n.4101T>C | |
3 | g.47000024T>G | CA352516375 | NBEAL2 | c.3925T>G (p.Ser1309Ala) c.3823T>G (p.Ser1275Ala) n.262T>G c.1960-172T>G c.397T>G (p.Ser133Ala) c.3844T>G (p.Ser1282Ala) c.3904T>G (p.Ser1302Ala) c.3556T>G (p.Ser1186Ala) c.3385T>G (p.Ser1129Ala) c.3271T>G (p.Ser1091Ala) c.2833T>G (p.Ser945Ala) n.4101T>G | gnomAD v3 gnomAD v4 |
3 | g.47000025C>A | CA352516380 | NBEAL2 | c.3926C>A (p.Ser1309Ter) c.3824C>A (p.Ser1275Ter) n.263C>A c.1960-171C>A c.398C>A (p.Ser133Ter) c.3845C>A (p.Ser1282Ter) c.3905C>A (p.Ser1302Ter) c.3557C>A (p.Ser1186Ter) c.3386C>A (p.Ser1129Ter) c.3272C>A (p.Ser1091Ter) c.2834C>A (p.Ser945Ter) n.4102C>A | |
3 | g.47000025C>G | CA352516383 | NBEAL2 | c.3926C>G (p.Ser1309Ter) c.3824C>G (p.Ser1275Ter) n.263C>G c.1960-171C>G c.398C>G (p.Ser133Ter) c.3845C>G (p.Ser1282Ter) c.3905C>G (p.Ser1302Ter) c.3557C>G (p.Ser1186Ter) c.3386C>G (p.Ser1129Ter) c.3272C>G (p.Ser1091Ter) c.2834C>G (p.Ser945Ter) n.4102C>G | |
3 | g.47000025C>T | CA352516381 | NBEAL2 | c.3926C>T (p.Ser1309Leu) c.3824C>T (p.Ser1275Leu) n.263C>T c.1960-171C>T c.398C>T (p.Ser133Leu) c.3845C>T (p.Ser1282Leu) c.3905C>T (p.Ser1302Leu) c.3557C>T (p.Ser1186Leu) c.3386C>T (p.Ser1129Leu) c.3272C>T (p.Ser1091Leu) c.2834C>T (p.Ser945Leu) n.4102C>T | dbSNP |
3 | g.47000026A= | CA1362362979 | NBEAL2 | c.3927A= (p.Ser1309=) c.3825A= (p.Ser1275=) n.264A= c.1960-170A= c.399A= (p.Ser133=) c.3846A= (p.Ser1282=) c.3906A= (p.Ser1302=) c.3558A= (p.Ser1186=) c.3387A= (p.Ser1129=) c.3273A= (p.Ser1091=) c.2835A= (p.Ser945=) n.4103A= | |
3 | g.47000026A>C | CA433598199 | NBEAL2 | c.3927A>C (p.Ser1309=) c.3825A>C (p.Ser1275=) n.264A>C c.1960-170A>C c.399A>C (p.Ser133=) c.3846A>C (p.Ser1282=) c.3906A>C (p.Ser1302=) c.3558A>C (p.Ser1186=) c.3387A>C (p.Ser1129=) c.3273A>C (p.Ser1091=) c.2835A>C (p.Ser945=) n.4103A>C | dbSNP |
3 | g.47000026A>G | CA433598197 | NBEAL2 | c.3927A>G (p.Ser1309=) c.3825A>G (p.Ser1275=) n.264A>G c.1960-170A>G c.399A>G (p.Ser133=) c.3846A>G (p.Ser1282=) c.3906A>G (p.Ser1302=) c.3558A>G (p.Ser1186=) c.3387A>G (p.Ser1129=) c.3273A>G (p.Ser1091=) c.2835A>G (p.Ser945=) n.4103A>G | |
3 | g.47000026A>T | CA433598198 | NBEAL2 | c.3927A>T (p.Ser1309=) c.3825A>T (p.Ser1275=) n.264A>T c.1960-170A>T c.399A>T (p.Ser133=) c.3846A>T (p.Ser1282=) c.3906A>T (p.Ser1302=) c.3558A>T (p.Ser1186=) c.3387A>T (p.Ser1129=) c.3273A>T (p.Ser1091=) c.2835A>T (p.Ser945=) n.4103A>T | |
3 | g.47000027C>A | CA352516386 | NBEAL2 | c.3928C>A (p.Pro1310Thr) c.3826C>A (p.Pro1276Thr) n.265C>A c.1960-169C>A c.400C>A (p.Pro134Thr) c.3847C>A (p.Pro1283Thr) c.3907C>A (p.Pro1303Thr) c.3559C>A (p.Pro1187Thr) c.3388C>A (p.Pro1130Thr) c.3274C>A (p.Pro1092Thr) c.2836C>A (p.Pro946Thr) n.4104C>A | |
3 | g.47000027C>G | CA352516388 | NBEAL2 | c.3928C>G (p.Pro1310Ala) c.3826C>G (p.Pro1276Ala) n.265C>G c.1960-169C>G c.400C>G (p.Pro134Ala) c.3847C>G (p.Pro1283Ala) c.3907C>G (p.Pro1303Ala) c.3559C>G (p.Pro1187Ala) c.3388C>G (p.Pro1130Ala) c.3274C>G (p.Pro1092Ala) c.2836C>G (p.Pro946Ala) n.4104C>G | |
3 | g.47000027C>T | CA352516390 | NBEAL2 | c.3928C>T (p.Pro1310Ser) c.3826C>T (p.Pro1276Ser) n.265C>T c.1960-169C>T c.400C>T (p.Pro134Ser) c.3847C>T (p.Pro1283Ser) c.3907C>T (p.Pro1303Ser) c.3559C>T (p.Pro1187Ser) c.3388C>T (p.Pro1130Ser) c.3274C>T (p.Pro1092Ser) c.2836C>T (p.Pro946Ser) n.4104C>T | gnomAD v4 |
3 | g.47000028C>A | CA352516393 | NBEAL2 | c.3929C>A (p.Pro1310His) c.3827C>A (p.Pro1276His) n.266C>A c.1960-168C>A c.401C>A (p.Pro134His) c.3848C>A (p.Pro1283His) c.3908C>A (p.Pro1303His) c.3560C>A (p.Pro1187His) c.3389C>A (p.Pro1130His) c.3275C>A (p.Pro1092His) c.2837C>A (p.Pro946His) n.4105C>A | |
3 | g.47000028C= | CA1362362980 | NBEAL2 | c.3929C= (p.Pro1310=) c.3827C= (p.Pro1276=) n.266C= c.1960-168C= c.401C= (p.Pro134=) c.3848C= (p.Pro1283=) c.3908C= (p.Pro1303=) c.3560C= (p.Pro1187=) c.3389C= (p.Pro1130=) c.3275C= (p.Pro1092=) c.2837C= (p.Pro946=) n.4105C= | |
3 | g.47000028C>G | CA352516395 | NBEAL2 | c.3929C>G (p.Pro1310Arg) c.3827C>G (p.Pro1276Arg) n.266C>G c.1960-168C>G c.401C>G (p.Pro134Arg) c.3848C>G (p.Pro1283Arg) c.3908C>G (p.Pro1303Arg) c.3560C>G (p.Pro1187Arg) c.3389C>G (p.Pro1130Arg) c.3275C>G (p.Pro1092Arg) c.2837C>G (p.Pro946Arg) n.4105C>G | |
3 | g.47000028C>T | CA352516397 | NBEAL2 | c.3929C>T (p.Pro1310Leu) c.3827C>T (p.Pro1276Leu) n.266C>T c.1960-168C>T c.401C>T (p.Pro134Leu) c.3848C>T (p.Pro1283Leu) c.3908C>T (p.Pro1303Leu) c.3560C>T (p.Pro1187Leu) c.3389C>T (p.Pro1130Leu) c.3275C>T (p.Pro1092Leu) c.2837C>T (p.Pro946Leu) n.4105C>T | dbSNP gnomAD v2 gnomAD v4 |
3 | g.47000029T>A | CA433598200 | NBEAL2 | c.3930T>A (p.Pro1310=) c.3828T>A (p.Pro1276=) n.267T>A c.1960-167T>A c.402T>A (p.Pro134=) c.3849T>A (p.Pro1283=) c.3909T>A (p.Pro1303=) c.3561T>A (p.Pro1187=) c.3390T>A (p.Pro1130=) c.3276T>A (p.Pro1092=) c.2838T>A (p.Pro946=) n.4106T>A | dbSNP gnomAD v3 gnomAD v4 |
3 | g.47000029T>C | CA433598202 | NBEAL2 | c.3930T>C (p.Pro1310=) c.3828T>C (p.Pro1276=) n.267T>C c.1960-167T>C c.402T>C (p.Pro134=) c.3849T>C (p.Pro1283=) c.3909T>C (p.Pro1303=) c.3561T>C (p.Pro1187=) c.3390T>C (p.Pro1130=) c.3276T>C (p.Pro1092=) c.2838T>C (p.Pro946=) n.4106T>C | gnomAD v4 |
3 | g.47000029T>G | CA433598201 | NBEAL2 | c.3930T>G (p.Pro1310=) c.3828T>G (p.Pro1276=) n.267T>G c.1960-167T>G c.402T>G (p.Pro134=) c.3849T>G (p.Pro1283=) c.3909T>G (p.Pro1303=) c.3561T>G (p.Pro1187=) c.3390T>G (p.Pro1130=) c.3276T>G (p.Pro1092=) c.2838T>G (p.Pro946=) n.4106T>G | |
3 | g.47000029T= | CA1362362981 | NBEAL2 | c.3930T= (p.Pro1310=) c.3828T= (p.Pro1276=) n.267T= c.1960-167T= c.402T= (p.Pro134=) c.3849T= (p.Pro1283=) c.3909T= (p.Pro1303=) c.3561T= (p.Pro1187=) c.3390T= (p.Pro1130=) c.3276T= (p.Pro1092=) c.2838T= (p.Pro946=) n.4106T= |