| 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.47000269G>A | CA2361160 | NBEAL2 | c.4170G>A (p.Ser1390=) c.4068G>A (p.Ser1356=) c.2033G>A c.642G>A (p.Ser214=) c.4089G>A (p.Ser1363=) c.4149G>A (p.Ser1383=) c.3801G>A (p.Ser1267=) c.3630G>A (p.Ser1210=) c.3516G>A (p.Ser1172=) c.3078G>A (p.Ser1026=) n.4346G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 3 | g.47000269G>C | CA433598315 | NBEAL2 | c.4170G>C (p.Ser1390=) c.4068G>C (p.Ser1356=) c.2033G>C c.642G>C (p.Ser214=) c.4089G>C (p.Ser1363=) c.4149G>C (p.Ser1383=) c.3801G>C (p.Ser1267=) c.3630G>C (p.Ser1210=) c.3516G>C (p.Ser1172=) c.3078G>C (p.Ser1026=) n.4346G>C | |
| 3 | g.47000269G= | CA1362363097 | NBEAL2 | c.4170G= (p.Ser1390=) c.4068G= (p.Ser1356=) c.2033G= c.642G= (p.Ser214=) c.4089G= (p.Ser1363=) c.4149G= (p.Ser1383=) c.3801G= (p.Ser1267=) c.3630G= (p.Ser1210=) c.3516G= (p.Ser1172=) c.3078G= (p.Ser1026=) n.4346G= | |
| 3 | g.47000269G>T | CA433598316 | NBEAL2 | c.4170G>T (p.Ser1390=) c.4068G>T (p.Ser1356=) c.2033G>T c.642G>T (p.Ser214=) c.4089G>T (p.Ser1363=) c.4149G>T (p.Ser1383=) c.3801G>T (p.Ser1267=) c.3630G>T (p.Ser1210=) c.3516G>T (p.Ser1172=) c.3078G>T (p.Ser1026=) n.4346G>T | |
| 3 | g.47000270C>A | CA352517047 | NBEAL2 | c.4171C>A (p.Pro1391Thr) c.4069C>A (p.Pro1357Thr) c.2034C>A c.643C>A (p.Pro215Thr) c.4090C>A (p.Pro1364Thr) c.4150C>A (p.Pro1384Thr) c.3802C>A (p.Pro1268Thr) c.3631C>A (p.Pro1211Thr) c.3517C>A (p.Pro1173Thr) c.3079C>A (p.Pro1027Thr) n.4347C>A | |
| 3 | g.47000270C= | CA1362363098 | NBEAL2 | c.4171C= (p.Pro1391=) c.4069C= (p.Pro1357=) c.2034C= c.643C= (p.Pro215=) c.4090C= (p.Pro1364=) c.4150C= (p.Pro1384=) c.3802C= (p.Pro1268=) c.3631C= (p.Pro1211=) c.3517C= (p.Pro1173=) c.3079C= (p.Pro1027=) n.4347C= | |
| 3 | g.47000270C>G | CA352517048 | NBEAL2 | c.4171C>G (p.Pro1391Ala) c.4069C>G (p.Pro1357Ala) c.2034C>G c.643C>G (p.Pro215Ala) c.4090C>G (p.Pro1364Ala) c.4150C>G (p.Pro1384Ala) c.3802C>G (p.Pro1268Ala) c.3631C>G (p.Pro1211Ala) c.3517C>G (p.Pro1173Ala) c.3079C>G (p.Pro1027Ala) n.4347C>G | dbSNP gnomAD v4 |
| 3 | g.47000270C>T | CA352517049 | NBEAL2 | c.4171C>T (p.Pro1391Ser) c.4069C>T (p.Pro1357Ser) c.2034C>T c.643C>T (p.Pro215Ser) c.4090C>T (p.Pro1364Ser) c.4150C>T (p.Pro1384Ser) c.3802C>T (p.Pro1268Ser) c.3631C>T (p.Pro1211Ser) c.3517C>T (p.Pro1173Ser) c.3079C>T (p.Pro1027Ser) n.4347C>T | |
| 3 | g.47000271C>A | CA352517051 | NBEAL2 | c.4172C>A (p.Pro1391Gln) c.4070C>A (p.Pro1357Gln) c.2035C>A c.644C>A (p.Pro215Gln) c.4091C>A (p.Pro1364Gln) c.4151C>A (p.Pro1384Gln) c.3803C>A (p.Pro1268Gln) c.3632C>A (p.Pro1211Gln) c.3518C>A (p.Pro1173Gln) c.3080C>A (p.Pro1027Gln) n.4348C>A | |
| 3 | g.47000271C= | CA1362363099 | NBEAL2 | c.4172C= (p.Pro1391=) c.4070C= (p.Pro1357=) c.2035C= c.644C= (p.Pro215=) c.4091C= (p.Pro1364=) c.4151C= (p.Pro1384=) c.3803C= (p.Pro1268=) c.3632C= (p.Pro1211=) c.3518C= (p.Pro1173=) c.3080C= (p.Pro1027=) n.4348C= | |
| 3 | g.47000271C>G | CA352517050 | NBEAL2 | c.4172C>G (p.Pro1391Arg) c.4070C>G (p.Pro1357Arg) c.2035C>G c.644C>G (p.Pro215Arg) c.4091C>G (p.Pro1364Arg) c.4151C>G (p.Pro1384Arg) c.3803C>G (p.Pro1268Arg) c.3632C>G (p.Pro1211Arg) c.3518C>G (p.Pro1173Arg) c.3080C>G (p.Pro1027Arg) n.4348C>G | |
| 3 | g.47000271C>T | CA2361161 | NBEAL2 | c.4172C>T (p.Pro1391Leu) c.4070C>T (p.Pro1357Leu) c.2035C>T c.644C>T (p.Pro215Leu) c.4091C>T (p.Pro1364Leu) c.4151C>T (p.Pro1384Leu) c.3803C>T (p.Pro1268Leu) c.3632C>T (p.Pro1211Leu) c.3518C>T (p.Pro1173Leu) c.3080C>T (p.Pro1027Leu) n.4348C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.47000272A>C | CA433598320 | NBEAL2 | c.4173A>C (p.Pro1391=) c.4071A>C (p.Pro1357=) c.2036A>C c.645A>C (p.Pro215=) c.4092A>C (p.Pro1364=) c.4152A>C (p.Pro1384=) c.3804A>C (p.Pro1268=) c.3633A>C (p.Pro1211=) c.3519A>C (p.Pro1173=) c.3081A>C (p.Pro1027=) n.4349A>C | |
| 3 | g.47000272A>G | CA433598321 | NBEAL2 | c.4173A>G (p.Pro1391=) c.4071A>G (p.Pro1357=) c.2036A>G c.645A>G (p.Pro215=) c.4092A>G (p.Pro1364=) c.4152A>G (p.Pro1384=) c.3804A>G (p.Pro1268=) c.3633A>G (p.Pro1211=) c.3519A>G (p.Pro1173=) c.3081A>G (p.Pro1027=) n.4349A>G | |
| 3 | g.47000272A>T | CA433598322 | NBEAL2 | c.4173A>T (p.Pro1391=) c.4071A>T (p.Pro1357=) c.2036A>T c.645A>T (p.Pro215=) c.4092A>T (p.Pro1364=) c.4152A>T (p.Pro1384=) c.3804A>T (p.Pro1268=) c.3633A>T (p.Pro1211=) c.3519A>T (p.Pro1173=) c.3081A>T (p.Pro1027=) n.4349A>T | |
| 3 | g.47000273C>A | CA352517052 | NBEAL2 | c.4174C>A (p.Leu1392Met) c.4072C>A (p.Leu1358Met) c.2037C>A c.646C>A (p.Leu216Met) c.4093C>A (p.Leu1365Met) c.4153C>A (p.Leu1385Met) c.3805C>A (p.Leu1269Met) c.3634C>A (p.Leu1212Met) c.3520C>A (p.Leu1174Met) c.3082C>A (p.Leu1028Met) n.4350C>A | |
| 3 | g.47000273C= | CA1362363100 | NBEAL2 | c.4174C= (p.Leu1392=) c.4072C= (p.Leu1358=) c.2037C= c.646C= (p.Leu216=) c.4093C= (p.Leu1365=) c.4153C= (p.Leu1385=) c.3805C= (p.Leu1269=) c.3634C= (p.Leu1212=) c.3520C= (p.Leu1174=) c.3082C= (p.Leu1028=) n.4350C= | |
| 3 | g.47000273C>G | CA352517053 | NBEAL2 | c.4174C>G (p.Leu1392Val) c.4072C>G (p.Leu1358Val) c.2037C>G c.646C>G (p.Leu216Val) c.4093C>G (p.Leu1365Val) c.4153C>G (p.Leu1385Val) c.3805C>G (p.Leu1269Val) c.3634C>G (p.Leu1212Val) c.3520C>G (p.Leu1174Val) c.3082C>G (p.Leu1028Val) n.4350C>G | |
| 3 | g.47000273C>T | CA73817859 | NBEAL2 | c.4174C>T (p.Leu1392=) c.4072C>T (p.Leu1358=) c.2037C>T c.646C>T (p.Leu216=) c.4093C>T (p.Leu1365=) c.4153C>T (p.Leu1385=) c.3805C>T (p.Leu1269=) c.3634C>T (p.Leu1212=) c.3520C>T (p.Leu1174=) c.3082C>T (p.Leu1028=) n.4350C>T | dbSNP gnomAD v4 |
| 3 | g.47000274T>A | CA352517054 | NBEAL2 | c.4175T>A (p.Leu1392Gln) c.4073T>A (p.Leu1358Gln) c.2038T>A c.647T>A (p.Leu216Gln) c.4094T>A (p.Leu1365Gln) c.4154T>A (p.Leu1385Gln) c.3806T>A (p.Leu1269Gln) c.3635T>A (p.Leu1212Gln) c.3521T>A (p.Leu1174Gln) c.3083T>A (p.Leu1028Gln) n.4351T>A | |
| 3 | g.47000274T>C | CA352517055 | NBEAL2 | c.4175T>C (p.Leu1392Pro) c.4073T>C (p.Leu1358Pro) c.2038T>C c.647T>C (p.Leu216Pro) c.4094T>C (p.Leu1365Pro) c.4154T>C (p.Leu1385Pro) c.3806T>C (p.Leu1269Pro) c.3635T>C (p.Leu1212Pro) c.3521T>C (p.Leu1174Pro) c.3083T>C (p.Leu1028Pro) n.4351T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.47000274T>G | CA352517056 | NBEAL2 | c.4175T>G (p.Leu1392Arg) c.4073T>G (p.Leu1358Arg) c.2038T>G c.647T>G (p.Leu216Arg) c.4094T>G (p.Leu1365Arg) c.4154T>G (p.Leu1385Arg) c.3806T>G (p.Leu1269Arg) c.3635T>G (p.Leu1212Arg) c.3521T>G (p.Leu1174Arg) c.3083T>G (p.Leu1028Arg) n.4351T>G | |
| 3 | g.47000274T= | CA1362363101 | NBEAL2 | c.4175T= (p.Leu1392=) c.4073T= (p.Leu1358=) c.2038T= c.647T= (p.Leu216=) c.4094T= (p.Leu1365=) c.4154T= (p.Leu1385=) c.3806T= (p.Leu1269=) c.3635T= (p.Leu1212=) c.3521T= (p.Leu1174=) c.3083T= (p.Leu1028=) n.4351T= | |
| 3 | g.47000275G>A | CA433598324 | NBEAL2 | c.4176G>A (p.Leu1392=) c.4074G>A (p.Leu1358=) c.2039G>A c.648G>A (p.Leu216=) c.4095G>A (p.Leu1365=) c.4155G>A (p.Leu1385=) c.3807G>A (p.Leu1269=) c.3636G>A (p.Leu1212=) c.3522G>A (p.Leu1174=) c.3084G>A (p.Leu1028=) n.4352G>A | |
| 3 | g.47000275G>C | CA433598325 | NBEAL2 | c.4176G>C (p.Leu1392=) c.4074G>C (p.Leu1358=) c.2039G>C c.648G>C (p.Leu216=) c.4095G>C (p.Leu1365=) c.4155G>C (p.Leu1385=) c.3807G>C (p.Leu1269=) c.3636G>C (p.Leu1212=) c.3522G>C (p.Leu1174=) c.3084G>C (p.Leu1028=) n.4352G>C | gnomAD v4 |
| 3 | g.47000275G>T | CA433598326 | NBEAL2 | c.4176G>T (p.Leu1392=) c.4074G>T (p.Leu1358=) c.2039G>T c.648G>T (p.Leu216=) c.4095G>T (p.Leu1365=) c.4155G>T (p.Leu1385=) c.3807G>T (p.Leu1269=) c.3636G>T (p.Leu1212=) c.3522G>T (p.Leu1174=) c.3084G>T (p.Leu1028=) n.4352G>T | |
| 3 | g.47000276G>A | CA352517057 | NBEAL2 | c.4177G>A (p.Asp1393Asn) c.4075G>A (p.Asp1359Asn) c.2040G>A c.649G>A (p.Asp217Asn) c.4096G>A (p.Asp1366Asn) c.4156G>A (p.Asp1386Asn) c.3808G>A (p.Asp1270Asn) c.3637G>A (p.Asp1213Asn) c.3523G>A (p.Asp1175Asn) c.3085G>A (p.Asp1029Asn) n.4353G>A | |
| 3 | g.47000276G>C | CA352517058 | NBEAL2 | c.4177G>C (p.Asp1393His) c.4075G>C (p.Asp1359His) c.2040G>C c.649G>C (p.Asp217His) c.4096G>C (p.Asp1366His) c.4156G>C (p.Asp1386His) c.3808G>C (p.Asp1270His) c.3637G>C (p.Asp1213His) c.3523G>C (p.Asp1175His) c.3085G>C (p.Asp1029His) n.4353G>C | |
| 3 | g.47000276G= | CA1362363102 | NBEAL2 | c.4177G= (p.Asp1393=) c.4075G= (p.Asp1359=) c.2040G= c.649G= (p.Asp217=) c.4096G= (p.Asp1366=) c.4156G= (p.Asp1386=) c.3808G= (p.Asp1270=) c.3637G= (p.Asp1213=) c.3523G= (p.Asp1175=) c.3085G= (p.Asp1029=) n.4353G= | |
| 3 | g.47000276G>T | CA352517059 | NBEAL2 | c.4177G>T (p.Asp1393Tyr) c.4075G>T (p.Asp1359Tyr) c.2040G>T c.649G>T (p.Asp217Tyr) c.4096G>T (p.Asp1366Tyr) c.4156G>T (p.Asp1386Tyr) c.3808G>T (p.Asp1270Tyr) c.3637G>T (p.Asp1213Tyr) c.3523G>T (p.Asp1175Tyr) c.3085G>T (p.Asp1029Tyr) n.4353G>T | gnomAD v4 |
| 3 | g.47000277A>C | CA352517060 | NBEAL2 | c.4178A>C (p.Asp1393Ala) c.4076A>C (p.Asp1359Ala) c.2041A>C c.650A>C (p.Asp217Ala) c.4097A>C (p.Asp1366Ala) c.4157A>C (p.Asp1386Ala) c.3809A>C (p.Asp1270Ala) c.3638A>C (p.Asp1213Ala) c.3524A>C (p.Asp1175Ala) c.3086A>C (p.Asp1029Ala) n.4354A>C | |
| 3 | g.47000277A>G | CA352517061 | NBEAL2 | c.4178A>G (p.Asp1393Gly) c.4076A>G (p.Asp1359Gly) c.2041A>G c.650A>G (p.Asp217Gly) c.4097A>G (p.Asp1366Gly) c.4157A>G (p.Asp1386Gly) c.3809A>G (p.Asp1270Gly) c.3638A>G (p.Asp1213Gly) c.3524A>G (p.Asp1175Gly) c.3086A>G (p.Asp1029Gly) n.4354A>G | gnomAD v4 |
| 3 | g.47000277A>T | CA352517062 | NBEAL2 | c.4178A>T (p.Asp1393Val) c.4076A>T (p.Asp1359Val) c.2041A>T c.650A>T (p.Asp217Val) c.4097A>T (p.Asp1366Val) c.4157A>T (p.Asp1386Val) c.3809A>T (p.Asp1270Val) c.3638A>T (p.Asp1213Val) c.3524A>T (p.Asp1175Val) c.3086A>T (p.Asp1029Val) n.4354A>T | |
| 3 | g.47000277dup | CA1362363104 | NBEAL2 | c.4178dup (p.Asp1393GlufsTer?) c.4076dup (p.Asp1359GlufsTer?) c.2041dup c.650dup (p.Asp217GlufsTer?) c.4097dup (p.Asp1366GlufsTer?) c.4157dup (p.Asp1386GlufsTer?) c.3809dup (p.Asp1270GlufsTer?) c.3638dup (p.Asp1213GlufsTer?) c.3524dup (p.Asp1175GlufsTer?) c.3086dup (p.Asp1029GlufsTer?) n.4354dup | dbSNP |
| 3 | g.47000277_47000295delinsATGGGCCGCGGCCCTTTCC | CA1362363103 | NBEAL2 | c.4178_4196delinsATGGGCCGCGGCCCTTTCC (p.Asp1393=) c.4076_4094delinsATGGGCCGCGGCCCTTTCC (p.Asp1359=) c.2041_2059delinsATGGGCCGCGGCCCTTTCC c.650_668delinsATGGGCCGCGGCCCTTTCC (p.Asp217=) c.4097_4115delinsATGGGCCGCGGCCCTTTCC (p.Asp1366=) c.4157_4175delinsATGGGCCGCGGCCCTTTCC (p.Asp1386=) c.3809_3827delinsATGGGCCGCGGCCCTTTCC (p.Asp1270=) c.3638_3656delinsATGGGCCGCGGCCCTTTCC (p.Asp1213=) c.3524_3542delinsATGGGCCGCGGCCCTTTCC (p.Asp1175=) c.3086_3104delinsATGGGCCGCGGCCCTTTCC (p.Asp1029=) n.4354_4372delinsATGGGCCGCGGCCCTTTCC | |
| 3 | g.47000278T>A | CA352517063 | NBEAL2 | c.4179T>A (p.Asp1393Glu) c.4077T>A (p.Asp1359Glu) c.2042T>A c.651T>A (p.Asp217Glu) c.4098T>A (p.Asp1366Glu) c.4158T>A (p.Asp1386Glu) c.3810T>A (p.Asp1270Glu) c.3639T>A (p.Asp1213Glu) c.3525T>A (p.Asp1175Glu) c.3087T>A (p.Asp1029Glu) n.4355T>A | dbSNP |
| 3 | g.47000278T>C | CA2361162 | NBEAL2 | c.4179T>C (p.Asp1393=) c.4077T>C (p.Asp1359=) c.2042T>C c.651T>C (p.Asp217=) c.4098T>C (p.Asp1366=) c.4158T>C (p.Asp1386=) c.3810T>C (p.Asp1270=) c.3639T>C (p.Asp1213=) c.3525T>C (p.Asp1175=) c.3087T>C (p.Asp1029=) n.4355T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.47000278T>G | CA352517064 | NBEAL2 | c.4179T>G (p.Asp1393Glu) c.4077T>G (p.Asp1359Glu) c.2042T>G c.651T>G (p.Asp217Glu) c.4098T>G (p.Asp1366Glu) c.4158T>G (p.Asp1386Glu) c.3810T>G (p.Asp1270Glu) c.3639T>G (p.Asp1213Glu) c.3525T>G (p.Asp1175Glu) c.3087T>G (p.Asp1029Glu) n.4355T>G | |
| 3 | g.47000278T= | CA1362363105 | NBEAL2 | c.4179T= (p.Asp1393=) c.4077T= (p.Asp1359=) c.2042T= c.651T= (p.Asp217=) c.4098T= (p.Asp1366=) c.4158T= (p.Asp1386=) c.3810T= (p.Asp1270=) c.3639T= (p.Asp1213=) c.3525T= (p.Asp1175=) c.3087T= (p.Asp1029=) n.4355T= | |
| 3 | g.47000280_47000297del | CA73817863 | NBEAL2 | c.4181_4198del (p.Gly1394_Pro1399del) c.4079_4096del (p.Gly1360_Pro1365del) c.2044_2061del c.653_670del (p.Gly218_Pro223del) c.4100_4117del (p.Gly1367_Pro1372del) c.4160_4177del (p.Gly1387_Pro1392del) c.3812_3829del (p.Gly1271_Pro1276del) c.3641_3658del (p.Gly1214_Pro1219del) c.3527_3544del (p.Gly1176_Pro1181del) c.3089_3106del (p.Gly1030_Pro1035del) n.4357_4374del | dbSNP gnomAD v4 |
| 3 | g.47000279G>A | CA2361163 | NBEAL2 | c.4180G>A (p.Gly1394Arg) c.4078G>A (p.Gly1360Arg) c.2043G>A c.652G>A (p.Gly218Arg) c.4099G>A (p.Gly1367Arg) c.4159G>A (p.Gly1387Arg) c.3811G>A (p.Gly1271Arg) c.3640G>A (p.Gly1214Arg) c.3526G>A (p.Gly1176Arg) c.3088G>A (p.Gly1030Arg) n.4356G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.47000279G>C | CA352517066 | NBEAL2 | c.4180G>C (p.Gly1394Arg) c.4078G>C (p.Gly1360Arg) c.2043G>C c.652G>C (p.Gly218Arg) c.4099G>C (p.Gly1367Arg) c.4159G>C (p.Gly1387Arg) c.3811G>C (p.Gly1271Arg) c.3640G>C (p.Gly1214Arg) c.3526G>C (p.Gly1176Arg) c.3088G>C (p.Gly1030Arg) n.4356G>C | |
| 3 | g.47000279G= | CA1362363106 | NBEAL2 | c.4180G= (p.Gly1394=) c.4078G= (p.Gly1360=) c.2043G= c.652G= (p.Gly218=) c.4099G= (p.Gly1367=) c.4159G= (p.Gly1387=) c.3811G= (p.Gly1271=) c.3640G= (p.Gly1214=) c.3526G= (p.Gly1176=) c.3088G= (p.Gly1030=) n.4356G= | |
| 3 | g.47000279G>T | CA352517065 | NBEAL2 | c.4180G>T (p.Gly1394Trp) c.4078G>T (p.Gly1360Trp) c.2043G>T c.652G>T (p.Gly218Trp) c.4099G>T (p.Gly1367Trp) c.4159G>T (p.Gly1387Trp) c.3811G>T (p.Gly1271Trp) c.3640G>T (p.Gly1214Trp) c.3526G>T (p.Gly1176Trp) c.3088G>T (p.Gly1030Trp) n.4356G>T | |
| 3 | g.47000280G>A | CA352517067 | NBEAL2 | c.4181G>A (p.Gly1394Glu) c.4079G>A (p.Gly1360Glu) c.2044G>A c.653G>A (p.Gly218Glu) c.4100G>A (p.Gly1367Glu) c.4160G>A (p.Gly1387Glu) c.3812G>A (p.Gly1271Glu) c.3641G>A (p.Gly1214Glu) c.3527G>A (p.Gly1176Glu) c.3089G>A (p.Gly1030Glu) n.4357G>A | |
| 3 | g.47000280G>C | CA352517069 | NBEAL2 | c.4181G>C (p.Gly1394Ala) c.4079G>C (p.Gly1360Ala) c.2044G>C c.653G>C (p.Gly218Ala) c.4100G>C (p.Gly1367Ala) c.4160G>C (p.Gly1387Ala) c.3812G>C (p.Gly1271Ala) c.3641G>C (p.Gly1214Ala) c.3527G>C (p.Gly1176Ala) c.3089G>C (p.Gly1030Ala) n.4357G>C | dbSNP |
| 3 | g.47000280G= | CA1362363107 | NBEAL2 | c.4181G= (p.Gly1394=) c.4079G= (p.Gly1360=) c.2044G= c.653G= (p.Gly218=) c.4100G= (p.Gly1367=) c.4160G= (p.Gly1387=) c.3812G= (p.Gly1271=) c.3641G= (p.Gly1214=) c.3527G= (p.Gly1176=) c.3089G= (p.Gly1030=) n.4357G= | |
| 3 | g.47000280G>T | CA352517068 | NBEAL2 | c.4181G>T (p.Gly1394Val) c.4079G>T (p.Gly1360Val) c.2044G>T c.653G>T (p.Gly218Val) c.4100G>T (p.Gly1367Val) c.4160G>T (p.Gly1387Val) c.3812G>T (p.Gly1271Val) c.3641G>T (p.Gly1214Val) c.3527G>T (p.Gly1176Val) c.3089G>T (p.Gly1030Val) n.4357G>T | |
| 3 | g.47000284_47000289dup | CA1047549891 | NBEAL2 | c.4185_4190dup (p.Pro1397_Phe1398insArgPro) c.4083_4088dup (p.Pro1363_Phe1364insArgPro) c.2048_2053dup c.657_662dup (p.Pro221_Phe222insArgPro) c.4104_4109dup (p.Pro1370_Phe1371insArgPro) c.4164_4169dup (p.Pro1390_Phe1391insArgPro) c.3816_3821dup (p.Pro1274_Phe1275insArgPro) c.3645_3650dup (p.Pro1217_Phe1218insArgPro) c.3531_3536dup (p.Pro1179_Phe1180insArgPro) c.3093_3098dup (p.Pro1033_Phe1034insArgPro) n.4361_4366dup | dbSNP gnomAD v3 gnomAD v4 |