Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.46999920_47000275delCA913187439NBEAL2c.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
3g.47000269G>ACA2361160NBEAL2c.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
3g.47000269G>CCA433598315NBEAL2c.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
3g.47000269G=CA1362363097NBEAL2c.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=
3g.47000269G>TCA433598316NBEAL2c.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
3g.47000270C>ACA352517047NBEAL2c.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
3g.47000270C=CA1362363098NBEAL2c.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=
3g.47000270C>GCA352517048NBEAL2c.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
3g.47000270C>TCA352517049NBEAL2c.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
3g.47000271C>ACA352517051NBEAL2c.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
3g.47000271C=CA1362363099NBEAL2c.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=
3g.47000271C>GCA352517050NBEAL2c.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
3g.47000271C>TCA2361161NBEAL2c.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
3g.47000272A>CCA433598320NBEAL2c.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
3g.47000272A>GCA433598321NBEAL2c.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
3g.47000272A>TCA433598322NBEAL2c.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
3g.47000273C>ACA352517052NBEAL2c.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
3g.47000273C=CA1362363100NBEAL2c.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=
3g.47000273C>GCA352517053NBEAL2c.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
3g.47000273C>TCA73817859NBEAL2c.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
3g.47000274T>ACA352517054NBEAL2c.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
3g.47000274T>CCA352517055NBEAL2c.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
3g.47000274T>GCA352517056NBEAL2c.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
3g.47000274T=CA1362363101NBEAL2c.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=
3g.47000275G>ACA433598324NBEAL2c.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
3g.47000275G>CCA433598325NBEAL2c.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
3g.47000275G>TCA433598326NBEAL2c.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
3g.47000276G>ACA352517057NBEAL2c.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
3g.47000276G>CCA352517058NBEAL2c.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
3g.47000276G=CA1362363102NBEAL2c.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=
3g.47000276G>TCA352517059NBEAL2c.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
3g.47000277A>CCA352517060NBEAL2c.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
3g.47000277A>GCA352517061NBEAL2c.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
3g.47000277A>TCA352517062NBEAL2c.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
3g.47000277dupCA1362363104NBEAL2c.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
3g.47000277_47000295delinsATGGGCCGCGGCCCTTTCCCA1362363103NBEAL2c.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
3g.47000278T>ACA352517063NBEAL2c.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
3g.47000278T>CCA2361162NBEAL2c.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
3g.47000278T>GCA352517064NBEAL2c.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
3g.47000278T=CA1362363105NBEAL2c.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=
3g.47000280_47000297delCA73817863NBEAL2c.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
3g.47000279G>ACA2361163NBEAL2c.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
3g.47000279G>CCA352517066NBEAL2c.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
3g.47000279G=CA1362363106NBEAL2c.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=
3g.47000279G>TCA352517065NBEAL2c.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
3g.47000280G>ACA352517067NBEAL2c.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
3g.47000280G>CCA352517069NBEAL2c.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
3g.47000280G=CA1362363107NBEAL2c.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=
3g.47000280G>TCA352517068NBEAL2c.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
3g.47000284_47000289dupCA1047549891NBEAL2c.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
3g.47000281G>ACA2361164NBEAL2c.4182G>A (p.Gly1394=)
c.4080G>A (p.Gly1360=)
c.2045G>A
c.654G>A (p.Gly218=)
c.4101G>A (p.Gly1367=)
c.4161G>A (p.Gly1387=)
c.3813G>A (p.Gly1271=)
c.3642G>A (p.Gly1214=)
c.3528G>A (p.Gly1176=)
c.3090G>A (p.Gly1030=)
n.4358G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.47000281G>CCA433598332NBEAL2c.4182G>C (p.Gly1394=)
c.4080G>C (p.Gly1360=)
c.2045G>C
c.654G>C (p.Gly218=)
c.4101G>C (p.Gly1367=)
c.4161G>C (p.Gly1387=)
c.3813G>C (p.Gly1271=)
c.3642G>C (p.Gly1214=)
c.3528G>C (p.Gly1176=)
c.3090G>C (p.Gly1030=)
n.4358G>C
 gnomAD v4
3g.47000281G=CA1362363108NBEAL2c.4182G= (p.Gly1394=)
c.4080G= (p.Gly1360=)
c.2045G=
c.654G= (p.Gly218=)
c.4101G= (p.Gly1367=)
c.4161G= (p.Gly1387=)
c.3813G= (p.Gly1271=)
c.3642G= (p.Gly1214=)
c.3528G= (p.Gly1176=)
c.3090G= (p.Gly1030=)
n.4358G=
3g.47000281G>TCA433598334NBEAL2c.4182G>T (p.Gly1394=)
c.4080G>T (p.Gly1360=)
c.2045G>T
c.654G>T (p.Gly218=)
c.4101G>T (p.Gly1367=)
c.4161G>T (p.Gly1387=)
c.3813G>T (p.Gly1271=)
c.3642G>T (p.Gly1214=)
c.3528G>T (p.Gly1176=)
c.3090G>T (p.Gly1030=)
n.4358G>T
3g.47000282C>ACA352517070NBEAL2c.4183C>A (p.Pro1395Thr)
c.4081C>A (p.Pro1361Thr)
c.2046C>A
c.655C>A (p.Pro219Thr)
c.4102C>A (p.Pro1368Thr)
c.4162C>A (p.Pro1388Thr)
c.3814C>A (p.Pro1272Thr)
c.3643C>A (p.Pro1215Thr)
c.3529C>A (p.Pro1177Thr)
c.3091C>A (p.Pro1031Thr)
n.4359C>A
3g.47000282C>GCA352517071NBEAL2c.4183C>G (p.Pro1395Ala)
c.4081C>G (p.Pro1361Ala)
c.2046C>G
c.655C>G (p.Pro219Ala)
c.4102C>G (p.Pro1368Ala)
c.4162C>G (p.Pro1388Ala)
c.3814C>G (p.Pro1272Ala)
c.3643C>G (p.Pro1215Ala)
c.3529C>G (p.Pro1177Ala)
c.3091C>G (p.Pro1031Ala)
n.4359C>G
3g.47000282C>TCA352517072NBEAL2c.4183C>T (p.Pro1395Ser)
c.4081C>T (p.Pro1361Ser)
c.2046C>T
c.655C>T (p.Pro219Ser)
c.4102C>T (p.Pro1368Ser)
c.4162C>T (p.Pro1388Ser)
c.3814C>T (p.Pro1272Ser)
c.3643C>T (p.Pro1215Ser)
c.3529C>T (p.Pro1177Ser)
c.3091C>T (p.Pro1031Ser)
n.4359C>T
3g.47000283C>ACA352517073NBEAL2c.4184C>A (p.Pro1395Gln)
c.4082C>A (p.Pro1361Gln)
c.2047C>A
c.656C>A (p.Pro219Gln)
c.4103C>A (p.Pro1368Gln)
c.4163C>A (p.Pro1388Gln)
c.3815C>A (p.Pro1272Gln)
c.3644C>A (p.Pro1215Gln)
c.3530C>A (p.Pro1177Gln)
c.3092C>A (p.Pro1031Gln)
n.4360C>A
3g.47000283C=CA1362363109NBEAL2c.4184C= (p.Pro1395=)
c.4082C= (p.Pro1361=)
c.2047C=
c.656C= (p.Pro219=)
c.4103C= (p.Pro1368=)
c.4163C= (p.Pro1388=)
c.3815C= (p.Pro1272=)
c.3644C= (p.Pro1215=)
c.3530C= (p.Pro1177=)
c.3092C= (p.Pro1031=)
n.4360C=
3g.47000283C>GCA352517074NBEAL2c.4184C>G (p.Pro1395Arg)
c.4082C>G (p.Pro1361Arg)
c.2047C>G
c.656C>G (p.Pro219Arg)
c.4103C>G (p.Pro1368Arg)
c.4163C>G (p.Pro1388Arg)
c.3815C>G (p.Pro1272Arg)
c.3644C>G (p.Pro1215Arg)
c.3530C>G (p.Pro1177Arg)
c.3092C>G (p.Pro1031Arg)
n.4360C>G
 gnomAD v4
3g.47000283C>TCA73817877NBEAL2c.4184C>T (p.Pro1395Leu)
c.4082C>T (p.Pro1361Leu)
c.2047C>T
c.656C>T (p.Pro219Leu)
c.4103C>T (p.Pro1368Leu)
c.4163C>T (p.Pro1388Leu)
c.3815C>T (p.Pro1272Leu)
c.3644C>T (p.Pro1215Leu)
c.3530C>T (p.Pro1177Leu)
c.3092C>T (p.Pro1031Leu)
n.4360C>T
 dbSNP gnomAD v2 gnomAD v4
3g.47000284G>ACA2361165NBEAL2c.4185G>A (p.Pro1395=)
c.4083G>A (p.Pro1361=)
c.2048G>A
c.657G>A (p.Pro219=)
c.4104G>A (p.Pro1368=)
c.4164G>A (p.Pro1388=)
c.3816G>A (p.Pro1272=)
c.3645G>A (p.Pro1215=)
c.3531G>A (p.Pro1177=)
c.3093G>A (p.Pro1031=)
n.4361G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.47000284G>CCA433598335NBEAL2c.4185G>C (p.Pro1395=)
c.4083G>C (p.Pro1361=)
c.2048G>C
c.657G>C (p.Pro219=)
c.4104G>C (p.Pro1368=)
c.4164G>C (p.Pro1388=)
c.3816G>C (p.Pro1272=)
c.3645G>C (p.Pro1215=)
c.3531G>C (p.Pro1177=)
c.3093G>C (p.Pro1031=)
n.4361G>C
3g.47000284G=CA1362363110NBEAL2c.4185G= (p.Pro1395=)
c.4083G= (p.Pro1361=)
c.2048G=
c.657G= (p.Pro219=)
c.4104G= (p.Pro1368=)
c.4164G= (p.Pro1388=)
c.3816G= (p.Pro1272=)
c.3645G= (p.Pro1215=)
c.3531G= (p.Pro1177=)
c.3093G= (p.Pro1031=)
n.4361G=
3g.47000284G>TCA433598337NBEAL2c.4185G>T (p.Pro1395=)
c.4083G>T (p.Pro1361=)
c.2048G>T
c.657G>T (p.Pro219=)
c.4104G>T (p.Pro1368=)
c.4164G>T (p.Pro1388=)
c.3816G>T (p.Pro1272=)
c.3645G>T (p.Pro1215=)
c.3531G>T (p.Pro1177=)
c.3093G>T (p.Pro1031=)
n.4361G>T
 dbSNP gnomAD v4 COSMIC COSMIC
3g.47000285C>ACA433598338NBEAL2c.4186C>A (p.Arg1396=)
c.4084C>A (p.Arg1362=)
c.2049C>A
c.658C>A (p.Arg220=)
c.4105C>A (p.Arg1369=)
c.4165C>A (p.Arg1389=)
c.3817C>A (p.Arg1273=)
c.3646C>A (p.Arg1216=)
c.3532C>A (p.Arg1178=)
c.3094C>A (p.Arg1032=)
n.4362C>A
 dbSNP gnomAD v4
3g.47000285C=CA1362363111NBEAL2c.4186C= (p.Arg1396=)
c.4084C= (p.Arg1362=)
c.2049C=
c.658C= (p.Arg220=)
c.4105C= (p.Arg1369=)
c.4165C= (p.Arg1389=)
c.3817C= (p.Arg1273=)
c.3646C= (p.Arg1216=)
c.3532C= (p.Arg1178=)
c.3094C= (p.Arg1032=)
n.4362C=
3g.47000285C>GCA352517075NBEAL2c.4186C>G (p.Arg1396Gly)
c.4084C>G (p.Arg1362Gly)
c.2049C>G
c.658C>G (p.Arg220Gly)
c.4105C>G (p.Arg1369Gly)
c.4165C>G (p.Arg1389Gly)
c.3817C>G (p.Arg1273Gly)
c.3646C>G (p.Arg1216Gly)
c.3532C>G (p.Arg1178Gly)
c.3094C>G (p.Arg1032Gly)
n.4362C>G
3g.47000285C>TCA352517076NBEAL2c.4186C>T (p.Arg1396Trp)
c.4084C>T (p.Arg1362Trp)
c.2049C>T
c.658C>T (p.Arg220Trp)
c.4105C>T (p.Arg1369Trp)
c.4165C>T (p.Arg1389Trp)
c.3817C>T (p.Arg1273Trp)
c.3646C>T (p.Arg1216Trp)
c.3532C>T (p.Arg1178Trp)
c.3094C>T (p.Arg1032Trp)
n.4362C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.47000286G>ACA352517079NBEAL2c.4187G>A (p.Arg1396Gln)
c.4085G>A (p.Arg1362Gln)
c.2050G>A
c.659G>A (p.Arg220Gln)
c.4106G>A (p.Arg1369Gln)
c.4166G>A (p.Arg1389Gln)
c.3818G>A (p.Arg1273Gln)
c.3647G>A (p.Arg1216Gln)
c.3533G>A (p.Arg1178Gln)
c.3095G>A (p.Arg1032Gln)
n.4363G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.47000286G>CCA352517078NBEAL2c.4187G>C (p.Arg1396Pro)
c.4085G>C (p.Arg1362Pro)
c.2050G>C
c.659G>C (p.Arg220Pro)
c.4106G>C (p.Arg1369Pro)
c.4166G>C (p.Arg1389Pro)
c.3818G>C (p.Arg1273Pro)
c.3647G>C (p.Arg1216Pro)
c.3533G>C (p.Arg1178Pro)
c.3095G>C (p.Arg1032Pro)
n.4363G>C
3g.47000286G=CA1362363112NBEAL2c.4187G= (p.Arg1396=)
c.4085G= (p.Arg1362=)
c.2050G=
c.659G= (p.Arg220=)
c.4106G= (p.Arg1369=)
c.4166G= (p.Arg1389=)
c.3818G= (p.Arg1273=)
c.3647G= (p.Arg1216=)
c.3533G= (p.Arg1178=)
c.3095G= (p.Arg1032=)
n.4363G=
3g.47000286G>TCA352517077NBEAL2c.4187G>T (p.Arg1396Leu)
c.4085G>T (p.Arg1362Leu)
c.2050G>T
c.659G>T (p.Arg220Leu)
c.4106G>T (p.Arg1369Leu)
c.4166G>T (p.Arg1389Leu)
c.3818G>T (p.Arg1273Leu)
c.3647G>T (p.Arg1216Leu)
c.3533G>T (p.Arg1178Leu)
c.3095G>T (p.Arg1032Leu)
n.4363G>T
3g.47000287G>ACA2361166NBEAL2c.4188G>A (p.Arg1396=)
c.4086G>A (p.Arg1362=)
c.2051G>A
c.660G>A (p.Arg220=)
c.4107G>A (p.Arg1369=)
c.4167G>A (p.Arg1389=)
c.3819G>A (p.Arg1273=)
c.3648G>A (p.Arg1216=)
c.3534G>A (p.Arg1178=)
c.3096G>A (p.Arg1032=)
n.4364G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.47000287G>CCA433598340NBEAL2c.4188G>C (p.Arg1396=)
c.4086G>C (p.Arg1362=)
c.2051G>C
c.660G>C (p.Arg220=)
c.4107G>C (p.Arg1369=)
c.4167G>C (p.Arg1389=)
c.3819G>C (p.Arg1273=)
c.3648G>C (p.Arg1216=)
c.3534G>C (p.Arg1178=)
c.3096G>C (p.Arg1032=)
n.4364G>C
3g.47000287G=CA1362363113NBEAL2c.4188G= (p.Arg1396=)
c.4086G= (p.Arg1362=)
c.2051G=
c.660G= (p.Arg220=)
c.4107G= (p.Arg1369=)
c.4167G= (p.Arg1389=)
c.3819G= (p.Arg1273=)
c.3648G= (p.Arg1216=)
c.3534G= (p.Arg1178=)
c.3096G= (p.Arg1032=)
n.4364G=
3g.47000287G>TCA433598342NBEAL2c.4188G>T (p.Arg1396=)
c.4086G>T (p.Arg1362=)
c.2051G>T
c.660G>T (p.Arg220=)
c.4107G>T (p.Arg1369=)
c.4167G>T (p.Arg1389=)
c.3819G>T (p.Arg1273=)
c.3648G>T (p.Arg1216=)
c.3534G>T (p.Arg1178=)
c.3096G>T (p.Arg1032=)
n.4364G>T
3g.47000288C>ACA352517080NBEAL2c.4189C>A (p.Pro1397Thr)
c.4087C>A (p.Pro1363Thr)
c.2052C>A
c.661C>A (p.Pro221Thr)
c.4108C>A (p.Pro1370Thr)
c.4168C>A (p.Pro1390Thr)
c.3820C>A (p.Pro1274Thr)
c.3649C>A (p.Pro1217Thr)
c.3535C>A (p.Pro1179Thr)
c.3097C>A (p.Pro1033Thr)
n.4365C>A
 dbSNP gnomAD v2
3g.47000288C=CA1362363114NBEAL2c.4189C= (p.Pro1397=)
c.4087C= (p.Pro1363=)
c.2052C=
c.661C= (p.Pro221=)
c.4108C= (p.Pro1370=)
c.4168C= (p.Pro1390=)
c.3820C= (p.Pro1274=)
c.3649C= (p.Pro1217=)
c.3535C= (p.Pro1179=)
c.3097C= (p.Pro1033=)
n.4365C=
3g.47000288C>GCA352517081NBEAL2c.4189C>G (p.Pro1397Ala)
c.4087C>G (p.Pro1363Ala)
c.2052C>G
c.661C>G (p.Pro221Ala)
c.4108C>G (p.Pro1370Ala)
c.4168C>G (p.Pro1390Ala)
c.3820C>G (p.Pro1274Ala)
c.3649C>G (p.Pro1217Ala)
c.3535C>G (p.Pro1179Ala)
c.3097C>G (p.Pro1033Ala)
n.4365C>G
3g.47000288C>TCA352517082NBEAL2c.4189C>T (p.Pro1397Ser)
c.4087C>T (p.Pro1363Ser)
c.2052C>T
c.661C>T (p.Pro221Ser)
c.4108C>T (p.Pro1370Ser)
c.4168C>T (p.Pro1390Ser)
c.3820C>T (p.Pro1274Ser)
c.3649C>T (p.Pro1217Ser)
c.3535C>T (p.Pro1179Ser)
c.3097C>T (p.Pro1033Ser)
n.4365C>T
 gnomAD v4
3g.47000289C>ACA352517083NBEAL2c.4190C>A (p.Pro1397His)
c.4088C>A (p.Pro1363His)
c.2053C>A
c.662C>A (p.Pro221His)
c.4109C>A (p.Pro1370His)
c.4169C>A (p.Pro1390His)
c.3821C>A (p.Pro1274His)
c.3650C>A (p.Pro1217His)
c.3536C>A (p.Pro1179His)
c.3098C>A (p.Pro1033His)
n.4366C>A
3g.47000289C>GCA352517084NBEAL2c.4190C>G (p.Pro1397Arg)
c.4088C>G (p.Pro1363Arg)
c.2053C>G
c.662C>G (p.Pro221Arg)
c.4109C>G (p.Pro1370Arg)
c.4169C>G (p.Pro1390Arg)
c.3821C>G (p.Pro1274Arg)
c.3650C>G (p.Pro1217Arg)
c.3536C>G (p.Pro1179Arg)
c.3098C>G (p.Pro1033Arg)
n.4366C>G
3g.47000289C>TCA352517085NBEAL2c.4190C>T (p.Pro1397Leu)
c.4088C>T (p.Pro1363Leu)
c.2053C>T
c.662C>T (p.Pro221Leu)
c.4109C>T (p.Pro1370Leu)
c.4169C>T (p.Pro1390Leu)
c.3821C>T (p.Pro1274Leu)
c.3650C>T (p.Pro1217Leu)
c.3536C>T (p.Pro1179Leu)
c.3098C>T (p.Pro1033Leu)
n.4366C>T
 gnomAD v4
3g.47000290C>ACA433598344NBEAL2c.4191C>A (p.Pro1397=)
c.4089C>A (p.Pro1363=)
c.2054C>A
c.663C>A (p.Pro221=)
c.4110C>A (p.Pro1370=)
c.4170C>A (p.Pro1390=)
c.3822C>A (p.Pro1274=)
c.3651C>A (p.Pro1217=)
c.3537C>A (p.Pro1179=)
c.3099C>A (p.Pro1033=)
n.4367C>A
3g.47000290C=CA1362363115NBEAL2c.4191C= (p.Pro1397=)
c.4089C= (p.Pro1363=)
c.2054C=
c.663C= (p.Pro221=)
c.4110C= (p.Pro1370=)
c.4170C= (p.Pro1390=)
c.3822C= (p.Pro1274=)
c.3651C= (p.Pro1217=)
c.3537C= (p.Pro1179=)
c.3099C= (p.Pro1033=)
n.4367C=
3g.47000290C>GCA433598345NBEAL2c.4191C>G (p.Pro1397=)
c.4089C>G (p.Pro1363=)
c.2054C>G
c.663C>G (p.Pro221=)
c.4110C>G (p.Pro1370=)
c.4170C>G (p.Pro1390=)
c.3822C>G (p.Pro1274=)
c.3651C>G (p.Pro1217=)
c.3537C>G (p.Pro1179=)
c.3099C>G (p.Pro1033=)
n.4367C>G
3g.47000290C>TCA2361167NBEAL2c.4191C>T (p.Pro1397=)
c.4089C>T (p.Pro1363=)
c.2054C>T
c.663C>T (p.Pro221=)
c.4110C>T (p.Pro1370=)
c.4170C>T (p.Pro1390=)
c.3822C>T (p.Pro1274=)
c.3651C>T (p.Pro1217=)
c.3537C>T (p.Pro1179=)
c.3099C>T (p.Pro1033=)
n.4367C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.47000291T>ACA352517086NBEAL2c.4192T>A (p.Phe1398Ile)
c.4090T>A (p.Phe1364Ile)
c.2055T>A
c.664T>A (p.Phe222Ile)
c.4111T>A (p.Phe1371Ile)
c.4171T>A (p.Phe1391Ile)
c.3823T>A (p.Phe1275Ile)
c.3652T>A (p.Phe1218Ile)
c.3538T>A (p.Phe1180Ile)
c.3100T>A (p.Phe1034Ile)
n.4368T>A
3g.47000291T>CCA2361168NBEAL2c.4192T>C (p.Phe1398Leu)
c.4090T>C (p.Phe1364Leu)
c.2055T>C
c.664T>C (p.Phe222Leu)
c.4111T>C (p.Phe1371Leu)
c.4171T>C (p.Phe1391Leu)
c.3823T>C (p.Phe1275Leu)
c.3652T>C (p.Phe1218Leu)
c.3538T>C (p.Phe1180Leu)
c.3100T>C (p.Phe1034Leu)
n.4368T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.47000291T>GCA352517087NBEAL2c.4192T>G (p.Phe1398Val)
c.4090T>G (p.Phe1364Val)
c.2055T>G
c.664T>G (p.Phe222Val)
c.4111T>G (p.Phe1371Val)
c.4171T>G (p.Phe1391Val)
c.3823T>G (p.Phe1275Val)
c.3652T>G (p.Phe1218Val)
c.3538T>G (p.Phe1180Val)
c.3100T>G (p.Phe1034Val)
n.4368T>G
3g.47000291T=CA1362363116NBEAL2c.4192T= (p.Phe1398=)
c.4090T= (p.Phe1364=)
c.2055T=
c.664T= (p.Phe222=)
c.4111T= (p.Phe1371=)
c.4171T= (p.Phe1391=)
c.3823T= (p.Phe1275=)
c.3652T= (p.Phe1218=)
c.3538T= (p.Phe1180=)
c.3100T= (p.Phe1034=)
n.4368T=
3g.47000292T>ACA352517090NBEAL2c.4193T>A (p.Phe1398Tyr)
c.4091T>A (p.Phe1364Tyr)
c.2056T>A
c.665T>A (p.Phe222Tyr)
c.4112T>A (p.Phe1371Tyr)
c.4172T>A (p.Phe1391Tyr)
c.3824T>A (p.Phe1275Tyr)
c.3653T>A (p.Phe1218Tyr)
c.3539T>A (p.Phe1180Tyr)
c.3101T>A (p.Phe1034Tyr)
n.4369T>A
3g.47000292T>CCA352517089NBEAL2c.4193T>C (p.Phe1398Ser)
c.4091T>C (p.Phe1364Ser)
c.2056T>C
c.665T>C (p.Phe222Ser)
c.4112T>C (p.Phe1371Ser)
c.4172T>C (p.Phe1391Ser)
c.3824T>C (p.Phe1275Ser)
c.3653T>C (p.Phe1218Ser)
c.3539T>C (p.Phe1180Ser)
c.3101T>C (p.Phe1034Ser)
n.4369T>C
 gnomAD v4
3g.47000292T>GCA352517088NBEAL2c.4193T>G (p.Phe1398Cys)
c.4091T>G (p.Phe1364Cys)
c.2056T>G
c.665T>G (p.Phe222Cys)
c.4112T>G (p.Phe1371Cys)
c.4172T>G (p.Phe1391Cys)
c.3824T>G (p.Phe1275Cys)
c.3653T>G (p.Phe1218Cys)
c.3539T>G (p.Phe1180Cys)
c.3101T>G (p.Phe1034Cys)
n.4369T>G
3g.47000293T>ACA352517091NBEAL2c.4194T>A (p.Phe1398Leu)
c.4092T>A (p.Phe1364Leu)
c.2057T>A
c.666T>A (p.Phe222Leu)
c.4113T>A (p.Phe1371Leu)
c.4173T>A (p.Phe1391Leu)
c.3825T>A (p.Phe1275Leu)
c.3654T>A (p.Phe1218Leu)
c.3540T>A (p.Phe1180Leu)
c.3102T>A (p.Phe1034Leu)
n.4370T>A
3g.47000293T>CCA433598348NBEAL2c.4194T>C (p.Phe1398=)
c.4092T>C (p.Phe1364=)
c.2057T>C
c.666T>C (p.Phe222=)
c.4113T>C (p.Phe1371=)
c.4173T>C (p.Phe1391=)
c.3825T>C (p.Phe1275=)
c.3654T>C (p.Phe1218=)
c.3540T>C (p.Phe1180=)
c.3102T>C (p.Phe1034=)
n.4370T>C
3g.47000293T>GCA352517092NBEAL2c.4194T>G (p.Phe1398Leu)
c.4092T>G (p.Phe1364Leu)
c.2057T>G
c.666T>G (p.Phe222Leu)
c.4113T>G (p.Phe1371Leu)
c.4173T>G (p.Phe1391Leu)
c.3825T>G (p.Phe1275Leu)
c.3654T>G (p.Phe1218Leu)
c.3540T>G (p.Phe1180Leu)
c.3102T>G (p.Phe1034Leu)
n.4370T>G
3g.47000294C>ACA352517093NBEAL2c.4195C>A (p.Pro1399Thr)
c.4093C>A (p.Pro1365Thr)
c.2058C>A
c.667C>A (p.Pro223Thr)
c.4114C>A (p.Pro1372Thr)
c.4174C>A (p.Pro1392Thr)
c.3826C>A (p.Pro1276Thr)
c.3655C>A (p.Pro1219Thr)
c.3541C>A (p.Pro1181Thr)
c.3103C>A (p.Pro1035Thr)
n.4371C>A
3g.47000294C>GCA352517094NBEAL2c.4195C>G (p.Pro1399Ala)
c.4093C>G (p.Pro1365Ala)
c.2058C>G
c.667C>G (p.Pro223Ala)
c.4114C>G (p.Pro1372Ala)
c.4174C>G (p.Pro1392Ala)
c.3826C>G (p.Pro1276Ala)
c.3655C>G (p.Pro1219Ala)
c.3541C>G (p.Pro1181Ala)
c.3103C>G (p.Pro1035Ala)
n.4371C>G
3g.47000294C>TCA352517095NBEAL2c.4195C>T (p.Pro1399Ser)
c.4093C>T (p.Pro1365Ser)
c.2058C>T
c.667C>T (p.Pro223Ser)
c.4114C>T (p.Pro1372Ser)
c.4174C>T (p.Pro1392Ser)
c.3826C>T (p.Pro1276Ser)
c.3655C>T (p.Pro1219Ser)
c.3541C>T (p.Pro1181Ser)
c.3103C>T (p.Pro1035Ser)
n.4371C>T
3g.47000295C>ACA352517096NBEAL2c.4196C>A (p.Pro1399His)
c.4094C>A (p.Pro1365His)
c.2059C>A
c.668C>A (p.Pro223His)
c.4115C>A (p.Pro1372His)
c.4175C>A (p.Pro1392His)
c.3827C>A (p.Pro1276His)
c.3656C>A (p.Pro1219His)
c.3542C>A (p.Pro1181His)
c.3104C>A (p.Pro1035His)
n.4372C>A
3g.47000295C=CA1362363117NBEAL2c.4196C= (p.Pro1399=)
c.4094C= (p.Pro1365=)
c.2059C=
c.668C= (p.Pro223=)
c.4115C= (p.Pro1372=)
c.4175C= (p.Pro1392=)
c.3827C= (p.Pro1276=)
c.3656C= (p.Pro1219=)
c.3542C= (p.Pro1181=)
c.3104C= (p.Pro1035=)
n.4372C=
3g.47000295C>GCA352517097NBEAL2c.4196C>G (p.Pro1399Arg)
c.4094C>G (p.Pro1365Arg)
c.2059C>G
c.668C>G (p.Pro223Arg)
c.4115C>G (p.Pro1372Arg)
c.4175C>G (p.Pro1392Arg)
c.3827C>G (p.Pro1276Arg)
c.3656C>G (p.Pro1219Arg)
c.3542C>G (p.Pro1181Arg)
c.3104C>G (p.Pro1035Arg)
n.4372C>G
3g.47000295C>TCA2361169NBEAL2c.4196C>T (p.Pro1399Leu)
c.4094C>T (p.Pro1365Leu)
c.2059C>T
c.668C>T (p.Pro223Leu)
c.4115C>T (p.Pro1372Leu)
c.4175C>T (p.Pro1392Leu)
c.3827C>T (p.Pro1276Leu)
c.3656C>T (p.Pro1219Leu)
c.3542C>T (p.Pro1181Leu)
c.3104C>T (p.Pro1035Leu)
n.4372C>T
 dbSNP ExAC gnomAD v2
3g.47000296T>ACA433598350NBEAL2c.4197T>A (p.Pro1399=)
c.4095T>A (p.Pro1365=)
c.2060T>A
c.669T>A (p.Pro223=)
c.4116T>A (p.Pro1372=)
c.4176T>A (p.Pro1392=)
c.3828T>A (p.Pro1276=)
c.3657T>A (p.Pro1219=)
c.3543T>A (p.Pro1181=)
c.3105T>A (p.Pro1035=)
n.4373T>A
3g.47000296T>CCA433598351NBEAL2c.4197T>C (p.Pro1399=)
c.4095T>C (p.Pro1365=)
c.2060T>C
c.669T>C (p.Pro223=)
c.4116T>C (p.Pro1372=)
c.4176T>C (p.Pro1392=)
c.3828T>C (p.Pro1276=)
c.3657T>C (p.Pro1219=)
c.3543T>C (p.Pro1181=)
c.3105T>C (p.Pro1035=)
n.4373T>C
3g.47000296T>GCA433598352NBEAL2c.4197T>G (p.Pro1399=)
c.4095T>G (p.Pro1365=)
c.2060T>G
c.669T>G (p.Pro223=)
c.4116T>G (p.Pro1372=)
c.4176T>G (p.Pro1392=)
c.3828T>G (p.Pro1276=)
c.3657T>G (p.Pro1219=)
c.3543T>G (p.Pro1181=)
c.3105T>G (p.Pro1035=)
n.4373T>G
3g.47000297G>ACA352517098NBEAL2c.4198G>A (p.Ala1400Thr)
c.4096G>A (p.Ala1366Thr)
c.2061G>A
c.670G>A (p.Ala224Thr)
c.4117G>A (p.Ala1373Thr)
c.4177G>A (p.Ala1393Thr)
c.3829G>A (p.Ala1277Thr)
c.3658G>A (p.Ala1220Thr)
c.3544G>A (p.Ala1182Thr)
c.3106G>A (p.Ala1036Thr)
n.4374G>A
3g.47000297G>CCA352517099NBEAL2c.4198G>C (p.Ala1400Pro)
c.4096G>C (p.Ala1366Pro)
c.2061G>C
c.670G>C (p.Ala224Pro)
c.4117G>C (p.Ala1373Pro)
c.4177G>C (p.Ala1393Pro)
c.3829G>C (p.Ala1277Pro)
c.3658G>C (p.Ala1220Pro)
c.3544G>C (p.Ala1182Pro)
c.3106G>C (p.Ala1036Pro)
n.4374G>C
 gnomAD v4
3g.47000297G>TCA352517100NBEAL2c.4198G>T (p.Ala1400Ser)
c.4096G>T (p.Ala1366Ser)
c.2061G>T
c.670G>T (p.Ala224Ser)
c.4117G>T (p.Ala1373Ser)
c.4177G>T (p.Ala1393Ser)
c.3829G>T (p.Ala1277Ser)
c.3658G>T (p.Ala1220Ser)
c.3544G>T (p.Ala1182Ser)
c.3106G>T (p.Ala1036Ser)
n.4374G>T
3g.47000298C>ACA352517103NBEAL2c.4199C>A (p.Ala1400Asp)
c.4097C>A (p.Ala1366Asp)
c.2062C>A
c.671C>A (p.Ala224Asp)
c.4118C>A (p.Ala1373Asp)
c.4178C>A (p.Ala1393Asp)
c.3830C>A (p.Ala1277Asp)
c.3659C>A (p.Ala1220Asp)
c.3545C>A (p.Ala1182Asp)
c.3107C>A (p.Ala1036Asp)
n.4375C>A
3g.47000298C>GCA352517102NBEAL2c.4199C>G (p.Ala1400Gly)
c.4097C>G (p.Ala1366Gly)
c.2062C>G
c.671C>G (p.Ala224Gly)
c.4118C>G (p.Ala1373Gly)
c.4178C>G (p.Ala1393Gly)
c.3830C>G (p.Ala1277Gly)
c.3659C>G (p.Ala1220Gly)
c.3545C>G (p.Ala1182Gly)
c.3107C>G (p.Ala1036Gly)
n.4375C>G
3g.47000298C>TCA352517101NBEAL2c.4199C>T (p.Ala1400Val)
c.4097C>T (p.Ala1366Val)
c.2062C>T
c.671C>T (p.Ala224Val)
c.4118C>T (p.Ala1373Val)
c.4178C>T (p.Ala1393Val)
c.3830C>T (p.Ala1277Val)
c.3659C>T (p.Ala1220Val)
c.3545C>T (p.Ala1182Val)
c.3107C>T (p.Ala1036Val)
n.4375C>T
3g.47000299T>ACA2361170NBEAL2c.4200T>A (p.Ala1400=)
c.4098T>A (p.Ala1366=)
c.2063T>A
c.672T>A (p.Ala224=)
c.4119T>A (p.Ala1373=)
c.4179T>A (p.Ala1393=)
c.3831T>A (p.Ala1277=)
c.3660T>A (p.Ala1220=)
c.3546T>A (p.Ala1182=)
c.3108T>A (p.Ala1036=)
n.4376T>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.47000299T>CCA433598353NBEAL2c.4200T>C (p.Ala1400=)
c.4098T>C (p.Ala1366=)
c.2063T>C
c.672T>C (p.Ala224=)
c.4119T>C (p.Ala1373=)
c.4179T>C (p.Ala1393=)
c.3831T>C (p.Ala1277=)
c.3660T>C (p.Ala1220=)
c.3546T>C (p.Ala1182=)
c.3108T>C (p.Ala1036=)
n.4376T>C
3g.47000299T>GCA433598354NBEAL2c.4200T>G (p.Ala1400=)
c.4098T>G (p.Ala1366=)
c.2063T>G
c.672T>G (p.Ala224=)
c.4119T>G (p.Ala1373=)
c.4179T>G (p.Ala1393=)
c.3831T>G (p.Ala1277=)
c.3660T>G (p.Ala1220=)
c.3546T>G (p.Ala1182=)
c.3108T>G (p.Ala1036=)
n.4376T>G
3g.47000299T=CA1362363118NBEAL2c.4200T= (p.Ala1400=)
c.4098T= (p.Ala1366=)
c.2063T=
c.672T= (p.Ala224=)
c.4119T= (p.Ala1373=)
c.4179T= (p.Ala1393=)
c.3831T= (p.Ala1277=)
c.3660T= (p.Ala1220=)
c.3546T= (p.Ala1182=)
c.3108T= (p.Ala1036=)
n.4376T=
3g.47000300G>ACA352517104NBEAL2c.4201G>A (p.Ala1401Thr)
c.4099G>A (p.Ala1367Thr)
c.2064G>A
c.673G>A (p.Ala225Thr)
c.4120G>A (p.Ala1374Thr)
c.4180G>A (p.Ala1394Thr)
c.3832G>A (p.Ala1278Thr)
c.3661G>A (p.Ala1221Thr)
c.3547G>A (p.Ala1183Thr)
c.3109G>A (p.Ala1037Thr)
n.4377G>A
 dbSNP
3g.47000300G>CCA352517105NBEAL2c.4201G>C (p.Ala1401Pro)
c.4099G>C (p.Ala1367Pro)
c.2064G>C
c.673G>C (p.Ala225Pro)
c.4120G>C (p.Ala1374Pro)
c.4180G>C (p.Ala1394Pro)
c.3832G>C (p.Ala1278Pro)
c.3661G>C (p.Ala1221Pro)
c.3547G>C (p.Ala1183Pro)
c.3109G>C (p.Ala1037Pro)
n.4377G>C
3g.47000300G=CA1362363119NBEAL2c.4201G= (p.Ala1401=)
c.4099G= (p.Ala1367=)
c.2064G=
c.673G= (p.Ala225=)
c.4120G= (p.Ala1374=)
c.4180G= (p.Ala1394=)
c.3832G= (p.Ala1278=)
c.3661G= (p.Ala1221=)
c.3547G= (p.Ala1183=)
c.3109G= (p.Ala1037=)
n.4377G=
3g.47000300G>TCA352517106NBEAL2c.4201G>T (p.Ala1401Ser)
c.4099G>T (p.Ala1367Ser)
c.2064G>T
c.673G>T (p.Ala225Ser)
c.4120G>T (p.Ala1374Ser)
c.4180G>T (p.Ala1394Ser)
c.3832G>T (p.Ala1278Ser)
c.3661G>T (p.Ala1221Ser)
c.3547G>T (p.Ala1183Ser)
c.3109G>T (p.Ala1037Ser)
n.4377G>T
3g.47000301C>ACA352517107NBEAL2c.4202C>A (p.Ala1401Asp)
c.4100C>A (p.Ala1367Asp)
c.2065C>A
c.674C>A (p.Ala225Asp)
c.4121C>A (p.Ala1374Asp)
c.4181C>A (p.Ala1394Asp)
c.3833C>A (p.Ala1278Asp)
c.3662C>A (p.Ala1221Asp)
c.3548C>A (p.Ala1183Asp)
c.3110C>A (p.Ala1037Asp)
n.4378C>A
3g.47000301C>GCA352517108NBEAL2c.4202C>G (p.Ala1401Gly)
c.4100C>G (p.Ala1367Gly)
c.2065C>G
c.674C>G (p.Ala225Gly)
c.4121C>G (p.Ala1374Gly)
c.4181C>G (p.Ala1394Gly)
c.3833C>G (p.Ala1278Gly)
c.3662C>G (p.Ala1221Gly)
c.3548C>G (p.Ala1183Gly)
c.3110C>G (p.Ala1037Gly)
n.4378C>G
3g.47000301C>TCA352517109NBEAL2c.4202C>T (p.Ala1401Val)
c.4100C>T (p.Ala1367Val)
c.2065C>T
c.674C>T (p.Ala225Val)
c.4121C>T (p.Ala1374Val)
c.4181C>T (p.Ala1394Val)
c.3833C>T (p.Ala1278Val)
c.3662C>T (p.Ala1221Val)
c.3548C>T (p.Ala1183Val)
c.3110C>T (p.Ala1037Val)
n.4378C>T
3g.47000302T>ACA433598357NBEAL2c.4203T>A (p.Ala1401=)
c.4101T>A (p.Ala1367=)
c.2066T>A
c.675T>A (p.Ala225=)
c.4122T>A (p.Ala1374=)
c.4182T>A (p.Ala1394=)
c.3834T>A (p.Ala1278=)
c.3663T>A (p.Ala1221=)
c.3549T>A (p.Ala1183=)
c.3111T>A (p.Ala1037=)
n.4379T>A
3g.47000302T>CCA433598360NBEAL2c.4203T>C (p.Ala1401=)
c.4101T>C (p.Ala1367=)
c.2066T>C
c.675T>C (p.Ala225=)
c.4122T>C (p.Ala1374=)
c.4182T>C (p.Ala1394=)
c.3834T>C (p.Ala1278=)
c.3663T>C (p.Ala1221=)
c.3549T>C (p.Ala1183=)
c.3111T>C (p.Ala1037=)
n.4379T>C
 gnomAD v4
3g.47000302T>GCA433598358NBEAL2c.4203T>G (p.Ala1401=)
c.4101T>G (p.Ala1367=)
c.2066T>G
c.675T>G (p.Ala225=)
c.4122T>G (p.Ala1374=)
c.4182T>G (p.Ala1394=)
c.3834T>G (p.Ala1278=)
c.3663T>G (p.Ala1221=)
c.3549T>G (p.Ala1183=)
c.3111T>G (p.Ala1037=)
n.4379T>G
3g.47000303C>ACA352517110NBEAL2c.4204C>A (p.Pro1402Thr)
c.4102C>A (p.Pro1368Thr)
c.2067C>A
c.676C>A (p.Pro226Thr)
c.4123C>A (p.Pro1375Thr)
c.4183C>A (p.Pro1395Thr)
c.3835C>A (p.Pro1279Thr)
c.3664C>A (p.Pro1222Thr)
c.3550C>A (p.Pro1184Thr)
c.3112C>A (p.Pro1038Thr)
n.4380C>A
 gnomAD v4
3g.47000303C=CA1362363120NBEAL2c.4204C= (p.Pro1402=)
c.4102C= (p.Pro1368=)
c.2067C=
c.676C= (p.Pro226=)
c.4123C= (p.Pro1375=)
c.4183C= (p.Pro1395=)
c.3835C= (p.Pro1279=)
c.3664C= (p.Pro1222=)
c.3550C= (p.Pro1184=)
c.3112C= (p.Pro1038=)
n.4380C=
3g.47000303C>GCA352517111NBEAL2c.4204C>G (p.Pro1402Ala)
c.4102C>G (p.Pro1368Ala)
c.2067C>G
c.676C>G (p.Pro226Ala)
c.4123C>G (p.Pro1375Ala)
c.4183C>G (p.Pro1395Ala)
c.3835C>G (p.Pro1279Ala)
c.3664C>G (p.Pro1222Ala)
c.3550C>G (p.Pro1184Ala)
c.3112C>G (p.Pro1038Ala)
n.4380C>G
 dbSNP
3g.47000303C>TCA352517112NBEAL2c.4204C>T (p.Pro1402Ser)
c.4102C>T (p.Pro1368Ser)
c.2067C>T
c.676C>T (p.Pro226Ser)
c.4123C>T (p.Pro1375Ser)
c.4183C>T (p.Pro1395Ser)
c.3835C>T (p.Pro1279Ser)
c.3664C>T (p.Pro1222Ser)
c.3550C>T (p.Pro1184Ser)
c.3112C>T (p.Pro1038Ser)
n.4380C>T
 dbSNP gnomAD v4
3g.47000304C>ACA352517113NBEAL2c.4205C>A (p.Pro1402His)
c.4103C>A (p.Pro1368His)
c.2068C>A
c.677C>A (p.Pro226His)
c.4124C>A (p.Pro1375His)
c.4184C>A (p.Pro1395His)
c.3836C>A (p.Pro1279His)
c.3665C>A (p.Pro1222His)
c.3551C>A (p.Pro1184His)
c.3113C>A (p.Pro1038His)
n.4381C>A
3g.47000304C=CA1362363121NBEAL2c.4205C= (p.Pro1402=)
c.4103C= (p.Pro1368=)
c.2068C=
c.677C= (p.Pro226=)
c.4124C= (p.Pro1375=)
c.4184C= (p.Pro1395=)
c.3836C= (p.Pro1279=)
c.3665C= (p.Pro1222=)
c.3551C= (p.Pro1184=)
c.3113C= (p.Pro1038=)
n.4381C=
3g.47000304C>GCA352517114NBEAL2c.4205C>G (p.Pro1402Arg)
c.4103C>G (p.Pro1368Arg)
c.2068C>G
c.677C>G (p.Pro226Arg)
c.4124C>G (p.Pro1375Arg)
c.4184C>G (p.Pro1395Arg)
c.3836C>G (p.Pro1279Arg)
c.3665C>G (p.Pro1222Arg)
c.3551C>G (p.Pro1184Arg)
c.3113C>G (p.Pro1038Arg)
n.4381C>G
3g.47000304C>TCA352517115NBEAL2c.4205C>T (p.Pro1402Leu)
c.4103C>T (p.Pro1368Leu)
c.2068C>T
c.677C>T (p.Pro226Leu)
c.4124C>T (p.Pro1375Leu)
c.4184C>T (p.Pro1395Leu)
c.3836C>T (p.Pro1279Leu)
c.3665C>T (p.Pro1222Leu)
c.3551C>T (p.Pro1184Leu)
c.3113C>T (p.Pro1038Leu)
n.4381C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.47000305T>ACA433598362NBEAL2c.4206T>A (p.Pro1402=)
c.4104T>A (p.Pro1368=)
c.2069T>A
c.678T>A (p.Pro226=)
c.4125T>A (p.Pro1375=)
c.4185T>A (p.Pro1395=)
c.3837T>A (p.Pro1279=)
c.3666T>A (p.Pro1222=)
c.3552T>A (p.Pro1184=)
c.3114T>A (p.Pro1038=)
n.4382T>A
3g.47000305T>CCA2361171NBEAL2c.4206T>C (p.Pro1402=)
c.4104T>C (p.Pro1368=)
c.2069T>C
c.678T>C (p.Pro226=)
c.4125T>C (p.Pro1375=)
c.4185T>C (p.Pro1395=)
c.3837T>C (p.Pro1279=)
c.3666T>C (p.Pro1222=)
c.3552T>C (p.Pro1184=)
c.3114T>C (p.Pro1038=)
n.4382T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.47000305T>GCA433598363NBEAL2c.4206T>G (p.Pro1402=)
c.4104T>G (p.Pro1368=)
c.2069T>G
c.678T>G (p.Pro226=)
c.4125T>G (p.Pro1375=)
c.4185T>G (p.Pro1395=)
c.3837T>G (p.Pro1279=)
c.3666T>G (p.Pro1222=)
c.3552T>G (p.Pro1184=)
c.3114T>G (p.Pro1038=)
n.4382T>G
3g.47000305T=CA1362363122NBEAL2c.4206T= (p.Pro1402=)
c.4104T= (p.Pro1368=)
c.2069T=
c.678T= (p.Pro226=)
c.4125T= (p.Pro1375=)
c.4185T= (p.Pro1395=)
c.3837T= (p.Pro1279=)
c.3666T= (p.Pro1222=)
c.3552T= (p.Pro1184=)
c.3114T= (p.Pro1038=)
n.4382T=
3g.47000306G>ACA352517118NBEAL2c.4207G>A (p.Gly1403Ser)
c.4105G>A (p.Gly1369Ser)
c.2070G>A
c.679G>A (p.Gly227Ser)
c.4126G>A (p.Gly1376Ser)
c.4186G>A (p.Gly1396Ser)
c.3838G>A (p.Gly1280Ser)
c.3667G>A (p.Gly1223Ser)
c.3553G>A (p.Gly1185Ser)
c.3115G>A (p.Gly1039Ser)
n.4383G>A
3g.47000306G>CCA352517116NBEAL2c.4207G>C (p.Gly1403Arg)
c.4105G>C (p.Gly1369Arg)
c.2070G>C
c.679G>C (p.Gly227Arg)
c.4126G>C (p.Gly1376Arg)
c.4186G>C (p.Gly1396Arg)
c.3838G>C (p.Gly1280Arg)
c.3667G>C (p.Gly1223Arg)
c.3553G>C (p.Gly1185Arg)
c.3115G>C (p.Gly1039Arg)
n.4383G>C
3g.47000306G>TCA352517117NBEAL2c.4207G>T (p.Gly1403Cys)
c.4105G>T (p.Gly1369Cys)
c.2070G>T
c.679G>T (p.Gly227Cys)
c.4126G>T (p.Gly1376Cys)
c.4186G>T (p.Gly1396Cys)
c.3838G>T (p.Gly1280Cys)
c.3667G>T (p.Gly1223Cys)
c.3553G>T (p.Gly1185Cys)
c.3115G>T (p.Gly1039Cys)
n.4383G>T
3g.47000307G>ACA2361172NBEAL2c.4208G>A (p.Gly1403Asp)
c.4106G>A (p.Gly1369Asp)
c.2071G>A
c.680G>A (p.Gly227Asp)
c.4127G>A (p.Gly1376Asp)
c.4187G>A (p.Gly1396Asp)
c.3839G>A (p.Gly1280Asp)
c.3668G>A (p.Gly1223Asp)
c.3554G>A (p.Gly1185Asp)
c.3116G>A (p.Gly1039Asp)
n.4384G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.47000307G>CCA352517119NBEAL2c.4208G>C (p.Gly1403Ala)
c.4106G>C (p.Gly1369Ala)
c.2071G>C
c.680G>C (p.Gly227Ala)
c.4127G>C (p.Gly1376Ala)
c.4187G>C (p.Gly1396Ala)
c.3839G>C (p.Gly1280Ala)
c.3668G>C (p.Gly1223Ala)
c.3554G>C (p.Gly1185Ala)
c.3116G>C (p.Gly1039Ala)
n.4384G>C
3g.47000307G=CA1362363123NBEAL2c.4208G= (p.Gly1403=)
c.4106G= (p.Gly1369=)
c.2071G=
c.680G= (p.Gly227=)
c.4127G= (p.Gly1376=)
c.4187G= (p.Gly1396=)
c.3839G= (p.Gly1280=)
c.3668G= (p.Gly1223=)
c.3554G= (p.Gly1185=)
c.3116G= (p.Gly1039=)
n.4384G=
3g.47000307G>TCA352517120NBEAL2c.4208G>T (p.Gly1403Val)
c.4106G>T (p.Gly1369Val)
c.2071G>T
c.680G>T (p.Gly227Val)
c.4127G>T (p.Gly1376Val)
c.4187G>T (p.Gly1396Val)
c.3839G>T (p.Gly1280Val)
c.3668G>T (p.Gly1223Val)
c.3554G>T (p.Gly1185Val)
c.3116G>T (p.Gly1039Val)
n.4384G>T
3g.47000308C>ACA433598364NBEAL2c.4209C>A (p.Gly1403=)
c.4107C>A (p.Gly1369=)
c.2072C>A
c.681C>A (p.Gly227=)
c.4128C>A (p.Gly1376=)
c.4188C>A (p.Gly1396=)
c.3840C>A (p.Gly1280=)
c.3669C>A (p.Gly1223=)
c.3555C>A (p.Gly1185=)
c.3117C>A (p.Gly1039=)
n.4385C>A
3g.47000308C>GCA433598365NBEAL2c.4209C>G (p.Gly1403=)
c.4107C>G (p.Gly1369=)
c.2072C>G
c.681C>G (p.Gly227=)
c.4128C>G (p.Gly1376=)
c.4188C>G (p.Gly1396=)
c.3840C>G (p.Gly1280=)
c.3669C>G (p.Gly1223=)
c.3555C>G (p.Gly1185=)
c.3117C>G (p.Gly1039=)
n.4385C>G
 gnomAD v4
3g.47000308C>TCA433598366NBEAL2c.4209C>T (p.Gly1403=)
c.4107C>T (p.Gly1369=)
c.2072C>T
c.681C>T (p.Gly227=)
c.4128C>T (p.Gly1376=)
c.4188C>T (p.Gly1396=)
c.3840C>T (p.Gly1280=)
c.3669C>T (p.Gly1223=)
c.3555C>T (p.Gly1185=)
c.3117C>T (p.Gly1039=)
n.4385C>T
3g.47000309C>ACA352517121NBEAL2c.4210C>A (p.Arg1404Ser)
c.4108C>A (p.Arg1370Ser)
c.2073C>A
c.682C>A (p.Arg228Ser)
c.4129C>A (p.Arg1377Ser)
c.4189C>A (p.Arg1397Ser)
c.3841C>A (p.Arg1281Ser)
c.3670C>A (p.Arg1224Ser)
c.3556C>A (p.Arg1186Ser)
c.3118C>A (p.Arg1040Ser)
n.4386C>A
3g.47000309C=CA1362363124NBEAL2c.4210C= (p.Arg1404=)
c.4108C= (p.Arg1370=)
c.2073C=
c.682C= (p.Arg228=)
c.4129C= (p.Arg1377=)
c.4189C= (p.Arg1397=)
c.3841C= (p.Arg1281=)
c.3670C= (p.Arg1224=)
c.3556C= (p.Arg1186=)
c.3118C= (p.Arg1040=)
n.4386C=
3g.47000309C>GCA352517122NBEAL2c.4210C>G (p.Arg1404Gly)
c.4108C>G (p.Arg1370Gly)
c.2073C>G
c.682C>G (p.Arg228Gly)
c.4129C>G (p.Arg1377Gly)
c.4189C>G (p.Arg1397Gly)
c.3841C>G (p.Arg1281Gly)
c.3670C>G (p.Arg1224Gly)
c.3556C>G (p.Arg1186Gly)
c.3118C>G (p.Arg1040Gly)
n.4386C>G
3g.47000309C>TCA2361173NBEAL2c.4210C>T (p.Arg1404Cys)
c.4108C>T (p.Arg1370Cys)
c.2073C>T
c.682C>T (p.Arg228Cys)
c.4129C>T (p.Arg1377Cys)
c.4189C>T (p.Arg1397Cys)
c.3841C>T (p.Arg1281Cys)
c.3670C>T (p.Arg1224Cys)
c.3556C>T (p.Arg1186Cys)
c.3118C>T (p.Arg1040Cys)
n.4386C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
3g.47000310G>ACA2361174NBEAL2c.4211G>A (p.Arg1404His)
c.4109G>A (p.Arg1370His)
c.2074G>A
c.683G>A (p.Arg228His)
c.4130G>A (p.Arg1377His)
c.4190G>A (p.Arg1397His)
c.3842G>A (p.Arg1281His)
c.3671G>A (p.Arg1224His)
c.3557G>A (p.Arg1186His)
c.3119G>A (p.Arg1040His)
n.4387G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.47000310G>CCA352517124NBEAL2c.4211G>C (p.Arg1404Pro)
c.4109G>C (p.Arg1370Pro)
c.2074G>C
c.683G>C (p.Arg228Pro)
c.4130G>C (p.Arg1377Pro)
c.4190G>C (p.Arg1397Pro)
c.3842G>C (p.Arg1281Pro)
c.3671G>C (p.Arg1224Pro)
c.3557G>C (p.Arg1186Pro)
c.3119G>C (p.Arg1040Pro)
n.4387G>C
3g.47000310G=CA1362363125NBEAL2c.4211G= (p.Arg1404=)
c.4109G= (p.Arg1370=)
c.2074G=
c.683G= (p.Arg228=)
c.4130G= (p.Arg1377=)
c.4190G= (p.Arg1397=)
c.3842G= (p.Arg1281=)
c.3671G= (p.Arg1224=)
c.3557G= (p.Arg1186=)
c.3119G= (p.Arg1040=)
n.4387G=
3g.47000310G>TCA352517123NBEAL2c.4211G>T (p.Arg1404Leu)
c.4109G>T (p.Arg1370Leu)
c.2074G>T
c.683G>T (p.Arg228Leu)
c.4130G>T (p.Arg1377Leu)
c.4190G>T (p.Arg1397Leu)
c.3842G>T (p.Arg1281Leu)
c.3671G>T (p.Arg1224Leu)
c.3557G>T (p.Arg1186Leu)
c.3119G>T (p.Arg1040Leu)
n.4387G>T
3g.47000311C>ACA433598368NBEAL2c.4212C>A (p.Arg1404=)
c.4110C>A (p.Arg1370=)
c.2075C>A
c.684C>A (p.Arg228=)
c.4131C>A (p.Arg1377=)
c.4191C>A (p.Arg1397=)
c.3843C>A (p.Arg1281=)
c.3672C>A (p.Arg1224=)
c.3558C>A (p.Arg1186=)
c.3120C>A (p.Arg1040=)
n.4388C>A
3g.47000311C=CA1362363126NBEAL2c.4212C= (p.Arg1404=)
c.4110C= (p.Arg1370=)
c.2075C=
c.684C= (p.Arg228=)
c.4131C= (p.Arg1377=)
c.4191C= (p.Arg1397=)
c.3843C= (p.Arg1281=)
c.3672C= (p.Arg1224=)
c.3558C= (p.Arg1186=)
c.3120C= (p.Arg1040=)
n.4388C=
3g.47000311C>GCA433598367NBEAL2c.4212C>G (p.Arg1404=)
c.4110C>G (p.Arg1370=)
c.2075C>G
c.684C>G (p.Arg228=)
c.4131C>G (p.Arg1377=)
c.4191C>G (p.Arg1397=)
c.3843C>G (p.Arg1281=)
c.3672C>G (p.Arg1224=)
c.3558C>G (p.Arg1186=)
c.3120C>G (p.Arg1040=)
n.4388C>G
3g.47000311C>TCA2361175NBEAL2c.4212C>T (p.Arg1404=)
c.4110C>T (p.Arg1370=)
c.2075C>T
c.684C>T (p.Arg228=)
c.4131C>T (p.Arg1377=)
c.4191C>T (p.Arg1397=)
c.3843C>T (p.Arg1281=)
c.3672C>T (p.Arg1224=)
c.3558C>T (p.Arg1186=)
c.3120C>T (p.Arg1040=)
n.4388C>T
 dbSNP ExAC gnomAD v2
3g.47000312C>ACA352517125NBEAL2c.4213C>A (p.His1405Asn)
c.4111C>A (p.His1371Asn)
c.2076C>A
c.685C>A (p.His229Asn)
c.4132C>A (p.His1378Asn)
c.4192C>A (p.His1398Asn)
c.3844C>A (p.His1282Asn)
c.3673C>A (p.His1225Asn)
c.3559C>A (p.His1187Asn)
c.3121C>A (p.His1041Asn)
n.4389C>A
3g.47000312C=CA1362363127NBEAL2c.4213C= (p.His1405=)
c.4111C= (p.His1371=)
c.2076C=
c.685C= (p.His229=)
c.4132C= (p.His1378=)
c.4192C= (p.His1398=)
c.3844C= (p.His1282=)
c.3673C= (p.His1225=)
c.3559C= (p.His1187=)
c.3121C= (p.His1041=)
n.4389C=
3g.47000312C>GCA352517126NBEAL2c.4213C>G (p.His1405Asp)
c.4111C>G (p.His1371Asp)
c.2076C>G
c.685C>G (p.His229Asp)
c.4132C>G (p.His1378Asp)
c.4192C>G (p.His1398Asp)
c.3844C>G (p.His1282Asp)
c.3673C>G (p.His1225Asp)
c.3559C>G (p.His1187Asp)
c.3121C>G (p.His1041Asp)
n.4389C>G
3g.47000312C>TCA352517127NBEAL2c.4213C>T (p.His1405Tyr)
c.4111C>T (p.His1371Tyr)
c.2076C>T
c.685C>T (p.His229Tyr)
c.4132C>T (p.His1378Tyr)
c.4192C>T (p.His1398Tyr)
c.3844C>T (p.His1282Tyr)
c.3673C>T (p.His1225Tyr)
c.3559C>T (p.His1187Tyr)
c.3121C>T (p.His1041Tyr)
n.4389C>T
 dbSNP gnomAD v2 gnomAD v4
3g.47000313A=CA1362363128NBEAL2c.4214A= (p.His1405=)
c.4112A= (p.His1371=)
c.2077A=
c.686A= (p.His229=)
c.4133A= (p.His1378=)
c.4193A= (p.His1398=)
c.3845A= (p.His1282=)
c.3674A= (p.His1225=)
c.3560A= (p.His1187=)
c.3122A= (p.His1041=)
n.4390A=
3g.47000313A>CCA352517128NBEAL2c.4214A>C (p.His1405Pro)
c.4112A>C (p.His1371Pro)
c.2077A>C
c.686A>C (p.His229Pro)
c.4133A>C (p.His1378Pro)
c.4193A>C (p.His1398Pro)
c.3845A>C (p.His1282Pro)
c.3674A>C (p.His1225Pro)
c.3560A>C (p.His1187Pro)
c.3122A>C (p.His1041Pro)
n.4390A>C
3g.47000313A>GCA352517130NBEAL2c.4214A>G (p.His1405Arg)
c.4112A>G (p.His1371Arg)
c.2077A>G
c.686A>G (p.His229Arg)
c.4133A>G (p.His1378Arg)
c.4193A>G (p.His1398Arg)
c.3845A>G (p.His1282Arg)
c.3674A>G (p.His1225Arg)
c.3560A>G (p.His1187Arg)
c.3122A>G (p.His1041Arg)
n.4390A>G
 dbSNP gnomAD v2 gnomAD v4
3g.47000313A>TCA352517129NBEAL2c.4214A>T (p.His1405Leu)
c.4112A>T (p.His1371Leu)
c.2077A>T
c.686A>T (p.His229Leu)
c.4133A>T (p.His1378Leu)
c.4193A>T (p.His1398Leu)
c.3845A>T (p.His1282Leu)
c.3674A>T (p.His1225Leu)
c.3560A>T (p.His1187Leu)
c.3122A>T (p.His1041Leu)
n.4390A>T
3g.47000314C>ACA352517131NBEAL2c.4215C>A (p.His1405Gln)
c.4113C>A (p.His1371Gln)
c.2078C>A
c.687C>A (p.His229Gln)
c.4134C>A (p.His1378Gln)
c.4194C>A (p.His1398Gln)
c.3846C>A (p.His1282Gln)
c.3675C>A (p.His1225Gln)
c.3561C>A (p.His1187Gln)
c.3123C>A (p.His1041Gln)
n.4391C>A
3g.47000314C>GCA352517132NBEAL2c.4215C>G (p.His1405Gln)
c.4113C>G (p.His1371Gln)
c.2078C>G
c.687C>G (p.His229Gln)
c.4134C>G (p.His1378Gln)
c.4194C>G (p.His1398Gln)
c.3846C>G (p.His1282Gln)
c.3675C>G (p.His1225Gln)
c.3561C>G (p.His1187Gln)
c.3123C>G (p.His1041Gln)
n.4391C>G
3g.47000314C>TCA433598370NBEAL2c.4215C>T (p.His1405=)
c.4113C>T (p.His1371=)
c.2078C>T
c.687C>T (p.His229=)
c.4134C>T (p.His1378=)
c.4194C>T (p.His1398=)
c.3846C>T (p.His1282=)
c.3675C>T (p.His1225=)
c.3561C>T (p.His1187=)
c.3123C>T (p.His1041=)
n.4391C>T
3g.47000315A>CCA352517133NBEAL2c.4216A>C (p.Ser1406Arg)
c.4114A>C (p.Ser1372Arg)
c.2079A>C
c.688A>C (p.Ser230Arg)
c.4135A>C (p.Ser1379Arg)
c.4195A>C (p.Ser1399Arg)
c.3847A>C (p.Ser1283Arg)
c.3676A>C (p.Ser1226Arg)
c.3562A>C (p.Ser1188Arg)
c.3124A>C (p.Ser1042Arg)
n.4392A>C
3g.47000315A>GCA352517134NBEAL2c.4216A>G (p.Ser1406Gly)
c.4114A>G (p.Ser1372Gly)
c.2079A>G
c.688A>G (p.Ser230Gly)
c.4135A>G (p.Ser1379Gly)
c.4195A>G (p.Ser1399Gly)
c.3847A>G (p.Ser1283Gly)
c.3676A>G (p.Ser1226Gly)
c.3562A>G (p.Ser1188Gly)
c.3124A>G (p.Ser1042Gly)
n.4392A>G
3g.47000315A>TCA352517135NBEAL2c.4216A>T (p.Ser1406Cys)
c.4114A>T (p.Ser1372Cys)
c.2079A>T
c.688A>T (p.Ser230Cys)
c.4135A>T (p.Ser1379Cys)
c.4195A>T (p.Ser1399Cys)
c.3847A>T (p.Ser1283Cys)
c.3676A>T (p.Ser1226Cys)
c.3562A>T (p.Ser1188Cys)
c.3124A>T (p.Ser1042Cys)
n.4392A>T
 COSMIC COSMIC
3g.47000316G>ACA352517136NBEAL2c.4217G>A (p.Ser1406Asn)
c.4115G>A (p.Ser1372Asn)
c.2080G>A
c.689G>A (p.Ser230Asn)
c.4136G>A (p.Ser1379Asn)
c.4196G>A (p.Ser1399Asn)
c.3848G>A (p.Ser1283Asn)
c.3677G>A (p.Ser1226Asn)
c.3563G>A (p.Ser1188Asn)
c.3125G>A (p.Ser1042Asn)
n.4393G>A
3g.47000316G>CCA352517137NBEAL2c.4217G>C (p.Ser1406Thr)
c.4115G>C (p.Ser1372Thr)
c.2080G>C
c.689G>C (p.Ser230Thr)
c.4136G>C (p.Ser1379Thr)
c.4196G>C (p.Ser1399Thr)
c.3848G>C (p.Ser1283Thr)
c.3677G>C (p.Ser1226Thr)
c.3563G>C (p.Ser1188Thr)
c.3125G>C (p.Ser1042Thr)
n.4393G>C
3g.47000316G>TCA352517138NBEAL2c.4217G>T (p.Ser1406Ile)
c.4115G>T (p.Ser1372Ile)
c.2080G>T
c.689G>T (p.Ser230Ile)
c.4136G>T (p.Ser1379Ile)
c.4196G>T (p.Ser1399Ile)
c.3848G>T (p.Ser1283Ile)
c.3677G>T (p.Ser1226Ile)
c.3563G>T (p.Ser1188Ile)
c.3125G>T (p.Ser1042Ile)
n.4393G>T
3g.47000317C>ACA352517139NBEAL2c.4218C>A (p.Ser1406Arg)
c.4116C>A (p.Ser1372Arg)
c.2081C>A
c.690C>A (p.Ser230Arg)
c.4137C>A (p.Ser1379Arg)
c.4197C>A (p.Ser1399Arg)
c.3849C>A (p.Ser1283Arg)
c.3678C>A (p.Ser1226Arg)
c.3564C>A (p.Ser1188Arg)
c.3126C>A (p.Ser1042Arg)
n.4394C>A
3g.47000317C=CA1362363129NBEAL2c.4218C= (p.Ser1406=)
c.4116C= (p.Ser1372=)
c.2081C=
c.690C= (p.Ser230=)
c.4137C= (p.Ser1379=)
c.4197C= (p.Ser1399=)
c.3849C= (p.Ser1283=)
c.3678C= (p.Ser1226=)
c.3564C= (p.Ser1188=)
c.3126C= (p.Ser1042=)
n.4394C=
3g.47000317C>GCA352517140NBEAL2c.4218C>G (p.Ser1406Arg)
c.4116C>G (p.Ser1372Arg)
c.2081C>G
c.690C>G (p.Ser230Arg)
c.4137C>G (p.Ser1379Arg)
c.4197C>G (p.Ser1399Arg)
c.3849C>G (p.Ser1283Arg)
c.3678C>G (p.Ser1226Arg)
c.3564C>G (p.Ser1188Arg)
c.3126C>G (p.Ser1042Arg)
n.4394C>G
 gnomAD v4
3g.47000317C>TCA2361176NBEAL2c.4218C>T (p.Ser1406=)
c.4116C>T (p.Ser1372=)
c.2081C>T
c.690C>T (p.Ser230=)
c.4137C>T (p.Ser1379=)
c.4197C>T (p.Ser1399=)
c.3849C>T (p.Ser1283=)
c.3678C>T (p.Ser1226=)
c.3564C>T (p.Ser1188=)
c.3126C>T (p.Ser1042=)
n.4394C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.47000318T>ACA352517141NBEAL2c.4219T>A (p.Ser1407Thr)
c.4117T>A (p.Ser1373Thr)
c.2082T>A
c.691T>A (p.Ser231Thr)
c.4138T>A (p.Ser1380Thr)
c.4198T>A (p.Ser1400Thr)
c.3850T>A (p.Ser1284Thr)
c.3679T>A (p.Ser1227Thr)
c.3565T>A (p.Ser1189Thr)
c.3127T>A (p.Ser1043Thr)
n.4395T>A
3g.47000318T>CCA352517143NBEAL2c.4219T>C (p.Ser1407Pro)
c.4117T>C (p.Ser1373Pro)
c.2082T>C
c.691T>C (p.Ser231Pro)
c.4138T>C (p.Ser1380Pro)
c.4198T>C (p.Ser1400Pro)
c.3850T>C (p.Ser1284Pro)
c.3679T>C (p.Ser1227Pro)
c.3565T>C (p.Ser1189Pro)
c.3127T>C (p.Ser1043Pro)
n.4395T>C
3g.47000318T>GCA352517142NBEAL2c.4219T>G (p.Ser1407Ala)
c.4117T>G (p.Ser1373Ala)
c.2082T>G
c.691T>G (p.Ser231Ala)
c.4138T>G (p.Ser1380Ala)
c.4198T>G (p.Ser1400Ala)
c.3850T>G (p.Ser1284Ala)
c.3679T>G (p.Ser1227Ala)
c.3565T>G (p.Ser1189Ala)
c.3127T>G (p.Ser1043Ala)
n.4395T>G
3g.47000319C>ACA352517144NBEAL2c.4220C>A (p.Ser1407Tyr)
c.4118C>A (p.Ser1373Tyr)
c.2083C>A
c.692C>A (p.Ser231Tyr)
c.4139C>A (p.Ser1380Tyr)
c.4199C>A (p.Ser1400Tyr)
c.3851C>A (p.Ser1284Tyr)
c.3680C>A (p.Ser1227Tyr)
c.3566C>A (p.Ser1189Tyr)
c.3128C>A (p.Ser1043Tyr)
n.4396C>A
 COSMIC COSMIC
3g.47000319C=CA1362363130NBEAL2c.4220C= (p.Ser1407=)
c.4118C= (p.Ser1373=)
c.2083C=
c.692C= (p.Ser231=)
c.4139C= (p.Ser1380=)
c.4199C= (p.Ser1400=)
c.3851C= (p.Ser1284=)
c.3680C= (p.Ser1227=)
c.3566C= (p.Ser1189=)
c.3128C= (p.Ser1043=)
n.4396C=
3g.47000319C>GCA352517145NBEAL2c.4220C>G (p.Ser1407Cys)
c.4118C>G (p.Ser1373Cys)
c.2083C>G
c.692C>G (p.Ser231Cys)
c.4139C>G (p.Ser1380Cys)
c.4199C>G (p.Ser1400Cys)
c.3851C>G (p.Ser1284Cys)
c.3680C>G (p.Ser1227Cys)
c.3566C>G (p.Ser1189Cys)
c.3128C>G (p.Ser1043Cys)
n.4396C>G
3g.47000319C>TCA352517146NBEAL2c.4220C>T (p.Ser1407Phe)
c.4118C>T (p.Ser1373Phe)
c.2083C>T
c.692C>T (p.Ser231Phe)
c.4139C>T (p.Ser1380Phe)
c.4199C>T (p.Ser1400Phe)
c.3851C>T (p.Ser1284Phe)
c.3680C>T (p.Ser1227Phe)
c.3566C>T (p.Ser1189Phe)
c.3128C>T (p.Ser1043Phe)
n.4396C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.47000320C>ACA433598374NBEAL2c.4221C>A (p.Ser1407=)
c.4119C>A (p.Ser1373=)
c.2084C>A
c.693C>A (p.Ser231=)
c.4140C>A (p.Ser1380=)
c.4200C>A (p.Ser1400=)
c.3852C>A (p.Ser1284=)
c.3681C>A (p.Ser1227=)
c.3567C>A (p.Ser1189=)
c.3129C>A (p.Ser1043=)
n.4397C>A
3g.47000320C=CA1362363131NBEAL2c.4221C= (p.Ser1407=)
c.4119C= (p.Ser1373=)
c.2084C=
c.693C= (p.Ser231=)
c.4140C= (p.Ser1380=)
c.4200C= (p.Ser1400=)
c.3852C= (p.Ser1284=)
c.3681C= (p.Ser1227=)
c.3567C= (p.Ser1189=)
c.3129C= (p.Ser1043=)
n.4397C=
3g.47000320C>GCA433598375NBEAL2c.4221C>G (p.Ser1407=)
c.4119C>G (p.Ser1373=)
c.2084C>G
c.693C>G (p.Ser231=)
c.4140C>G (p.Ser1380=)
c.4200C>G (p.Ser1400=)
c.3852C>G (p.Ser1284=)
c.3681C>G (p.Ser1227=)
c.3567C>G (p.Ser1189=)
c.3129C>G (p.Ser1043=)
n.4397C>G
3g.47000320C>TCA433598376NBEAL2c.4221C>T (p.Ser1407=)
c.4119C>T (p.Ser1373=)
c.2084C>T
c.693C>T (p.Ser231=)
c.4140C>T (p.Ser1380=)
c.4200C>T (p.Ser1400=)
c.3852C>T (p.Ser1284=)
c.3681C>T (p.Ser1227=)
c.3567C>T (p.Ser1189=)
c.3129C>T (p.Ser1043=)
n.4397C>T
 dbSNP
3g.47000321A=CA1362363132NBEAL2c.4222A= (p.Ser1408=)
c.4120A= (p.Ser1374=)
c.2085A=
c.694A= (p.Ser232=)
c.4141A= (p.Ser1381=)
c.4201A= (p.Ser1401=)
c.3853A= (p.Ser1285=)
c.3682A= (p.Ser1228=)
c.3568A= (p.Ser1190=)
c.3130A= (p.Ser1044=)
n.4398A=
3g.47000321A>CCA352517147NBEAL2c.4222A>C (p.Ser1408Arg)
c.4120A>C (p.Ser1374Arg)
c.2085A>C
c.694A>C (p.Ser232Arg)
c.4141A>C (p.Ser1381Arg)
c.4201A>C (p.Ser1401Arg)
c.3853A>C (p.Ser1285Arg)
c.3682A>C (p.Ser1228Arg)
c.3568A>C (p.Ser1190Arg)
c.3130A>C (p.Ser1044Arg)
n.4398A>C
 dbSNP
3g.47000321A>GCA352517148NBEAL2c.4222A>G (p.Ser1408Gly)
c.4120A>G (p.Ser1374Gly)
c.2085A>G
c.694A>G (p.Ser232Gly)
c.4141A>G (p.Ser1381Gly)
c.4201A>G (p.Ser1401Gly)
c.3853A>G (p.Ser1285Gly)
c.3682A>G (p.Ser1228Gly)
c.3568A>G (p.Ser1190Gly)
c.3130A>G (p.Ser1044Gly)
n.4398A>G
3g.47000321A>TCA352517149NBEAL2c.4222A>T (p.Ser1408Cys)
c.4120A>T (p.Ser1374Cys)
c.2085A>T
c.694A>T (p.Ser232Cys)
c.4141A>T (p.Ser1381Cys)
c.4201A>T (p.Ser1401Cys)
c.3853A>T (p.Ser1285Cys)
c.3682A>T (p.Ser1228Cys)
c.3568A>T (p.Ser1190Cys)
c.3130A>T (p.Ser1044Cys)
n.4398A>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.47000322G>ACA352517150NBEAL2c.4223G>A (p.Ser1408Asn)
c.4121G>A (p.Ser1374Asn)
c.2086G>A
c.695G>A (p.Ser232Asn)
c.4142G>A (p.Ser1381Asn)
c.4202G>A (p.Ser1401Asn)
c.3854G>A (p.Ser1285Asn)
c.3683G>A (p.Ser1228Asn)
c.3569G>A (p.Ser1190Asn)
c.3131G>A (p.Ser1044Asn)
n.4399G>A
3g.47000322G>CCA352517151NBEAL2c.4223G>C (p.Ser1408Thr)
c.4121G>C (p.Ser1374Thr)
c.2086G>C
c.695G>C (p.Ser232Thr)
c.4142G>C (p.Ser1381Thr)
c.4202G>C (p.Ser1401Thr)
c.3854G>C (p.Ser1285Thr)
c.3683G>C (p.Ser1228Thr)
c.3569G>C (p.Ser1190Thr)
c.3131G>C (p.Ser1044Thr)
n.4399G>C
3g.47000322G>TCA352517152NBEAL2c.4223G>T (p.Ser1408Ile)
c.4121G>T (p.Ser1374Ile)
c.2086G>T
c.695G>T (p.Ser232Ile)
c.4142G>T (p.Ser1381Ile)
c.4202G>T (p.Ser1401Ile)
c.3854G>T (p.Ser1285Ile)
c.3683G>T (p.Ser1228Ile)
c.3569G>T (p.Ser1190Ile)
c.3131G>T (p.Ser1044Ile)
n.4399G>T
3g.47000323T>ACA352517153NBEAL2c.4224T>A (p.Ser1408Arg)
c.4122T>A (p.Ser1374Arg)
c.2087T>A
c.696T>A (p.Ser232Arg)
c.4143T>A (p.Ser1381Arg)
c.4203T>A (p.Ser1401Arg)
c.3855T>A (p.Ser1285Arg)
c.3684T>A (p.Ser1228Arg)
c.3570T>A (p.Ser1190Arg)
c.3132T>A (p.Ser1044Arg)
n.4400T>A
3g.47000323T>CCA433598379NBEAL2c.4224T>C (p.Ser1408=)
c.4122T>C (p.Ser1374=)
c.2087T>C
c.696T>C (p.Ser232=)
c.4143T>C (p.Ser1381=)
c.4203T>C (p.Ser1401=)
c.3855T>C (p.Ser1285=)
c.3684T>C (p.Ser1228=)
c.3570T>C (p.Ser1190=)
c.3132T>C (p.Ser1044=)
n.4400T>C
 gnomAD v4
3g.47000323T>GCA352517154NBEAL2c.4224T>G (p.Ser1408Arg)
c.4122T>G (p.Ser1374Arg)
c.2087T>G
c.696T>G (p.Ser232Arg)
c.4143T>G (p.Ser1381Arg)
c.4203T>G (p.Ser1401Arg)
c.3855T>G (p.Ser1285Arg)
c.3684T>G (p.Ser1228Arg)
c.3570T>G (p.Ser1190Arg)
c.3132T>G (p.Ser1044Arg)
n.4400T>G
3g.47000324C>ACA2361177NBEAL2c.4225C>A (p.Leu1409Ile)
c.4123C>A (p.Leu1375Ile)
c.2088C>A
c.697C>A (p.Leu233Ile)
c.4144C>A (p.Leu1382Ile)
c.4204C>A (p.Leu1402Ile)
c.3856C>A (p.Leu1286Ile)
c.3685C>A (p.Leu1229Ile)
c.3571C>A (p.Leu1191Ile)
c.3133C>A (p.Leu1045Ile)
n.4401C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.47000324C=CA1362363133NBEAL2c.4225C= (p.Leu1409=)
c.4123C= (p.Leu1375=)
c.2088C=
c.697C= (p.Leu233=)
c.4144C= (p.Leu1382=)
c.4204C= (p.Leu1402=)
c.3856C= (p.Leu1286=)
c.3685C= (p.Leu1229=)
c.3571C= (p.Leu1191=)
c.3133C= (p.Leu1045=)
n.4401C=
3g.47000324C>GCA352517156NBEAL2c.4225C>G (p.Leu1409Val)
c.4123C>G (p.Leu1375Val)
c.2088C>G
c.697C>G (p.Leu233Val)
c.4144C>G (p.Leu1382Val)
c.4204C>G (p.Leu1402Val)
c.3856C>G (p.Leu1286Val)
c.3685C>G (p.Leu1229Val)
c.3571C>G (p.Leu1191Val)
c.3133C>G (p.Leu1045Val)
n.4401C>G
3g.47000324C>TCA352517155NBEAL2c.4225C>T (p.Leu1409Phe)
c.4123C>T (p.Leu1375Phe)
c.2088C>T
c.697C>T (p.Leu233Phe)
c.4144C>T (p.Leu1382Phe)
c.4204C>T (p.Leu1402Phe)
c.3856C>T (p.Leu1286Phe)
c.3685C>T (p.Leu1229Phe)
c.3571C>T (p.Leu1191Phe)
c.3133C>T (p.Leu1045Phe)
n.4401C>T
 dbSNP
3g.47000325T>ACA352517157NBEAL2c.4226T>A (p.Leu1409His)
c.4124T>A (p.Leu1375His)
c.2089T>A
c.698T>A (p.Leu233His)
c.4145T>A (p.Leu1382His)
c.4205T>A (p.Leu1402His)
c.3857T>A (p.Leu1286His)
c.3686T>A (p.Leu1229His)
c.3572T>A (p.Leu1191His)
c.3134T>A (p.Leu1045His)
n.4402T>A
3g.47000325T>CCA352517158NBEAL2c.4226T>C (p.Leu1409Pro)
c.4124T>C (p.Leu1375Pro)
c.2089T>C
c.698T>C (p.Leu233Pro)
c.4145T>C (p.Leu1382Pro)
c.4205T>C (p.Leu1402Pro)
c.3857T>C (p.Leu1286Pro)
c.3686T>C (p.Leu1229Pro)
c.3572T>C (p.Leu1191Pro)
c.3134T>C (p.Leu1045Pro)
n.4402T>C
3g.47000325T>GCA352517159NBEAL2c.4226T>G (p.Leu1409Arg)
c.4124T>G (p.Leu1375Arg)
c.2089T>G
c.698T>G (p.Leu233Arg)
c.4145T>G (p.Leu1382Arg)
c.4205T>G (p.Leu1402Arg)
c.3857T>G (p.Leu1286Arg)
c.3686T>G (p.Leu1229Arg)
c.3572T>G (p.Leu1191Arg)
c.3134T>G (p.Leu1045Arg)
n.4402T>G
3g.47000326C>ACA433598383NBEAL2c.4227C>A (p.Leu1409=)
c.4125C>A (p.Leu1375=)
c.2090C>A
c.699C>A (p.Leu233=)
c.4146C>A (p.Leu1382=)
c.4206C>A (p.Leu1402=)
c.3858C>A (p.Leu1286=)
c.3687C>A (p.Leu1229=)
c.3573C>A (p.Leu1191=)
c.3135C>A (p.Leu1045=)
n.4403C>A
 gnomAD v4
3g.47000326C=CA1362363134NBEAL2c.4227C= (p.Leu1409=)
c.4125C= (p.Leu1375=)
c.2090C=
c.699C= (p.Leu233=)
c.4146C= (p.Leu1382=)
c.4206C= (p.Leu1402=)
c.3858C= (p.Leu1286=)
c.3687C= (p.Leu1229=)
c.3573C= (p.Leu1191=)
c.3135C= (p.Leu1045=)
n.4403C=
3g.47000326C>GCA2361178NBEAL2c.4227C>G (p.Leu1409=)
c.4125C>G (p.Leu1375=)
c.2090C>G
c.699C>G (p.Leu233=)
c.4146C>G (p.Leu1382=)
c.4206C>G (p.Leu1402=)
c.3858C>G (p.Leu1286=)
c.3687C>G (p.Leu1229=)
c.3573C>G (p.Leu1191=)
c.3135C>G (p.Leu1045=)
n.4403C>G
 dbSNP ExAC gnomAD v2
3g.47000326C>TCA433598384NBEAL2c.4227C>T (p.Leu1409=)
c.4125C>T (p.Leu1375=)
c.2090C>T
c.699C>T (p.Leu233=)
c.4146C>T (p.Leu1382=)
c.4206C>T (p.Leu1402=)
c.3858C>T (p.Leu1286=)
c.3687C>T (p.Leu1229=)
c.3573C>T (p.Leu1191=)
c.3135C>T (p.Leu1045=)
n.4403C>T
3g.47000327T>ACA352517160NBEAL2c.4228T>A (p.Ser1410Thr)
c.4126T>A (p.Ser1376Thr)
c.2091T>A
c.700T>A (p.Ser234Thr)
c.4147T>A (p.Ser1383Thr)
c.4207T>A (p.Ser1403Thr)
c.3859T>A (p.Ser1287Thr)
c.3688T>A (p.Ser1230Thr)
c.3574T>A (p.Ser1192Thr)
c.3136T>A (p.Ser1046Thr)
n.4404T>A
3g.47000327T>CCA352517161NBEAL2c.4228T>C (p.Ser1410Pro)
c.4126T>C (p.Ser1376Pro)
c.2091T>C
c.700T>C (p.Ser234Pro)
c.4147T>C (p.Ser1383Pro)
c.4207T>C (p.Ser1403Pro)
c.3859T>C (p.Ser1287Pro)
c.3688T>C (p.Ser1230Pro)
c.3574T>C (p.Ser1192Pro)
c.3136T>C (p.Ser1046Pro)
n.4404T>C
 dbSNP gnomAD v4
3g.47000327T>GCA352517162NBEAL2c.4228T>G (p.Ser1410Ala)
c.4126T>G (p.Ser1376Ala)
c.2091T>G
c.700T>G (p.Ser234Ala)
c.4147T>G (p.Ser1383Ala)
c.4207T>G (p.Ser1403Ala)
c.3859T>G (p.Ser1287Ala)
c.3688T>G (p.Ser1230Ala)
c.3574T>G (p.Ser1192Ala)
c.3136T>G (p.Ser1046Ala)
n.4404T>G
 dbSNP gnomAD v2 gnomAD v4
3g.47000327T=CA1362363135NBEAL2c.4228T= (p.Ser1410=)
c.4126T= (p.Ser1376=)
c.2091T=
c.700T= (p.Ser234=)
c.4147T= (p.Ser1383=)
c.4207T= (p.Ser1403=)
c.3859T= (p.Ser1287=)
c.3688T= (p.Ser1230=)
c.3574T= (p.Ser1192=)
c.3136T= (p.Ser1046=)
n.4404T=
3g.47000328C>ACA352517163NBEAL2c.4229C>A (p.Ser1410Tyr)
c.4127C>A (p.Ser1376Tyr)
c.2092C>A
c.701C>A (p.Ser234Tyr)
c.4148C>A (p.Ser1383Tyr)
c.4208C>A (p.Ser1403Tyr)
c.3860C>A (p.Ser1287Tyr)
c.3689C>A (p.Ser1230Tyr)
c.3575C>A (p.Ser1192Tyr)
c.3137C>A (p.Ser1046Tyr)
n.4405C>A
3g.47000328C>GCA352517164NBEAL2c.4229C>G (p.Ser1410Cys)
c.4127C>G (p.Ser1376Cys)
c.2092C>G
c.701C>G (p.Ser234Cys)
c.4148C>G (p.Ser1383Cys)
c.4208C>G (p.Ser1403Cys)
c.3860C>G (p.Ser1287Cys)
c.3689C>G (p.Ser1230Cys)
c.3575C>G (p.Ser1192Cys)
c.3137C>G (p.Ser1046Cys)
n.4405C>G
3g.47000328C>TCA352517165NBEAL2c.4229C>T (p.Ser1410Phe)
c.4127C>T (p.Ser1376Phe)
c.2092C>T
c.701C>T (p.Ser234Phe)
c.4148C>T (p.Ser1383Phe)
c.4208C>T (p.Ser1403Phe)
c.3860C>T (p.Ser1287Phe)
c.3689C>T (p.Ser1230Phe)
c.3575C>T (p.Ser1192Phe)
c.3137C>T (p.Ser1046Phe)
n.4405C>T
3g.47000329C>ACA433598386NBEAL2c.4230C>A (p.Ser1410=)
c.4128C>A (p.Ser1376=)
c.2093C>A
c.702C>A (p.Ser234=)
c.4149C>A (p.Ser1383=)
c.4209C>A (p.Ser1403=)
c.3861C>A (p.Ser1287=)
c.3690C>A (p.Ser1230=)
c.3576C>A (p.Ser1192=)
c.3138C>A (p.Ser1046=)
n.4406C>A
3g.47000329C>GCA433598387NBEAL2c.4230C>G (p.Ser1410=)
c.4128C>G (p.Ser1376=)
c.2093C>G
c.702C>G (p.Ser234=)
c.4149C>G (p.Ser1383=)
c.4209C>G (p.Ser1403=)
c.3861C>G (p.Ser1287=)
c.3690C>G (p.Ser1230=)
c.3576C>G (p.Ser1192=)
c.3138C>G (p.Ser1046=)
n.4406C>G
3g.47000329C>TCA433598388NBEAL2c.4230C>T (p.Ser1410=)
c.4128C>T (p.Ser1376=)
c.2093C>T
c.702C>T (p.Ser234=)
c.4149C>T (p.Ser1383=)
c.4209C>T (p.Ser1403=)
c.3861C>T (p.Ser1287=)
c.3690C>T (p.Ser1230=)
c.3576C>T (p.Ser1192=)
c.3138C>T (p.Ser1046=)
n.4406C>T
3g.47000330A>CCA352517166NBEAL2c.4231A>C (p.Asn1411His)
c.4129A>C (p.Asn1377His)
c.2094A>C
c.703A>C (p.Asn235His)
c.4150A>C (p.Asn1384His)
c.4210A>C (p.Asn1404His)
c.3862A>C (p.Asn1288His)
c.3691A>C (p.Asn1231His)
c.3577A>C (p.Asn1193His)
c.3139A>C (p.Asn1047His)
n.4407A>C
3g.47000330A>GCA352517167NBEAL2c.4231A>G (p.Asn1411Asp)
c.4129A>G (p.Asn1377Asp)
c.2094A>G
c.703A>G (p.Asn235Asp)
c.4150A>G (p.Asn1384Asp)
c.4210A>G (p.Asn1404Asp)
c.3862A>G (p.Asn1288Asp)
c.3691A>G (p.Asn1231Asp)
c.3577A>G (p.Asn1193Asp)
c.3139A>G (p.Asn1047Asp)
n.4407A>G
3g.47000330A>TCA352517168NBEAL2c.4231A>T (p.Asn1411Tyr)
c.4129A>T (p.Asn1377Tyr)
c.2094A>T
c.703A>T (p.Asn235Tyr)
c.4150A>T (p.Asn1384Tyr)
c.4210A>T (p.Asn1404Tyr)
c.3862A>T (p.Asn1288Tyr)
c.3691A>T (p.Asn1231Tyr)
c.3577A>T (p.Asn1193Tyr)
c.3139A>T (p.Asn1047Tyr)
n.4407A>T
3g.47000331A=CA1362363136NBEAL2c.4232A= (p.Asn1411=)
c.4130A= (p.Asn1377=)
c.2095A=
c.704A= (p.Asn235=)
c.4151A= (p.Asn1384=)
c.4211A= (p.Asn1404=)
c.3863A= (p.Asn1288=)
c.3692A= (p.Asn1231=)
c.3578A= (p.Asn1193=)
c.3140A= (p.Asn1047=)
n.4408A=
3g.47000331A>CCA352517170NBEAL2c.4232A>C (p.Asn1411Thr)
c.4130A>C (p.Asn1377Thr)
c.2095A>C
c.704A>C (p.Asn235Thr)
c.4151A>C (p.Asn1384Thr)
c.4211A>C (p.Asn1404Thr)
c.3863A>C (p.Asn1288Thr)
c.3692A>C (p.Asn1231Thr)
c.3578A>C (p.Asn1193Thr)
c.3140A>C (p.Asn1047Thr)
n.4408A>C
3g.47000331A>GCA352517171NBEAL2c.4232A>G (p.Asn1411Ser)
c.4130A>G (p.Asn1377Ser)
c.2095A>G
c.704A>G (p.Asn235Ser)
c.4151A>G (p.Asn1384Ser)
c.4211A>G (p.Asn1404Ser)
c.3863A>G (p.Asn1288Ser)
c.3692A>G (p.Asn1231Ser)
c.3578A>G (p.Asn1193Ser)
c.3140A>G (p.Asn1047Ser)
n.4408A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.47000331A>TCA352517169NBEAL2c.4232A>T (p.Asn1411Ile)
c.4130A>T (p.Asn1377Ile)
c.2095A>T
c.704A>T (p.Asn235Ile)
c.4151A>T (p.Asn1384Ile)
c.4211A>T (p.Asn1404Ile)
c.3863A>T (p.Asn1288Ile)
c.3692A>T (p.Asn1231Ile)
c.3578A>T (p.Asn1193Ile)
c.3140A>T (p.Asn1047Ile)
n.4408A>T
3g.47000332T>ACA352517173NBEAL2c.4233T>A (p.Asn1411Lys)
c.4131T>A (p.Asn1377Lys)
c.2096T>A
c.705T>A (p.Asn235Lys)
c.4152T>A (p.Asn1384Lys)
c.4212T>A (p.Asn1404Lys)
c.3864T>A (p.Asn1288Lys)
c.3693T>A (p.Asn1231Lys)
c.3579T>A (p.Asn1193Lys)
c.3141T>A (p.Asn1047Lys)
n.4409T>A
3g.47000332T>CCA433598390NBEAL2c.4233T>C (p.Asn1411=)
c.4131T>C (p.Asn1377=)
c.2096T>C
c.705T>C (p.Asn235=)
c.4152T>C (p.Asn1384=)
c.4212T>C (p.Asn1404=)
c.3864T>C (p.Asn1288=)
c.3693T>C (p.Asn1231=)
c.3579T>C (p.Asn1193=)
c.3141T>C (p.Asn1047=)
n.4409T>C
 dbSNP gnomAD v2 gnomAD v4
3g.47000332T>GCA352517172NBEAL2c.4233T>G (p.Asn1411Lys)
c.4131T>G (p.Asn1377Lys)
c.2096T>G
c.705T>G (p.Asn235Lys)
c.4152T>G (p.Asn1384Lys)
c.4212T>G (p.Asn1404Lys)
c.3864T>G (p.Asn1288Lys)
c.3693T>G (p.Asn1231Lys)
c.3579T>G (p.Asn1193Lys)
c.3141T>G (p.Asn1047Lys)
n.4409T>G
3g.47000332T=CA1362363137NBEAL2c.4233T= (p.Asn1411=)
c.4131T= (p.Asn1377=)
c.2096T=
c.705T= (p.Asn235=)
c.4152T= (p.Asn1384=)
c.4212T= (p.Asn1404=)
c.3864T= (p.Asn1288=)
c.3693T= (p.Asn1231=)
c.3579T= (p.Asn1193=)
c.3141T= (p.Asn1047=)
n.4409T=
3g.47000333G>ACA352517175NBEAL2c.4234G>A (p.Val1412Met)
c.4132G>A (p.Val1378Met)
c.2097G>A
c.706G>A (p.Val236Met)
c.4153G>A (p.Val1385Met)
c.4213G>A (p.Val1405Met)
c.3865G>A (p.Val1289Met)
c.3694G>A (p.Val1232Met)
c.3580G>A (p.Val1194Met)
c.3142G>A (p.Val1048Met)
n.4410G>A
3g.47000333G>CCA352517174NBEAL2c.4234G>C (p.Val1412Leu)
c.4132G>C (p.Val1378Leu)
c.2097G>C
c.706G>C (p.Val236Leu)
c.4153G>C (p.Val1385Leu)
c.4213G>C (p.Val1405Leu)
c.3865G>C (p.Val1289Leu)
c.3694G>C (p.Val1232Leu)
c.3580G>C (p.Val1194Leu)
c.3142G>C (p.Val1048Leu)
n.4410G>C
3g.47000333G>TCA352517176NBEAL2c.4234G>T (p.Val1412Leu)
c.4132G>T (p.Val1378Leu)
c.2097G>T
c.706G>T (p.Val236Leu)
c.4153G>T (p.Val1385Leu)
c.4213G>T (p.Val1405Leu)
c.3865G>T (p.Val1289Leu)
c.3694G>T (p.Val1232Leu)
c.3580G>T (p.Val1194Leu)
c.3142G>T (p.Val1048Leu)
n.4410G>T
3g.47000334T>ACA352517177NBEAL2c.4235T>A (p.Val1412Glu)
c.4133T>A (p.Val1378Glu)
c.2098T>A
c.707T>A (p.Val236Glu)
c.4154T>A (p.Val1385Glu)
c.4214T>A (p.Val1405Glu)
c.3866T>A (p.Val1289Glu)
c.3695T>A (p.Val1232Glu)
c.3581T>A (p.Val1194Glu)
c.3143T>A (p.Val1048Glu)
n.4411T>A
3g.47000334T>CCA352517178NBEAL2c.4235T>C (p.Val1412Ala)
c.4133T>C (p.Val1378Ala)
c.2098T>C
c.707T>C (p.Val236Ala)
c.4154T>C (p.Val1385Ala)
c.4214T>C (p.Val1405Ala)
c.3866T>C (p.Val1289Ala)
c.3695T>C (p.Val1232Ala)
c.3581T>C (p.Val1194Ala)
c.3143T>C (p.Val1048Ala)
n.4411T>C
3g.47000334T>GCA352517179NBEAL2c.4235T>G (p.Val1412Gly)
c.4133T>G (p.Val1378Gly)
c.2098T>G
c.707T>G (p.Val236Gly)
c.4154T>G (p.Val1385Gly)
c.4214T>G (p.Val1405Gly)
c.3866T>G (p.Val1289Gly)
c.3695T>G (p.Val1232Gly)
c.3581T>G (p.Val1194Gly)
c.3143T>G (p.Val1048Gly)
n.4411T>G
3g.47000335G>ACA433598391NBEAL2c.4236G>A (p.Val1412=)
c.4134G>A (p.Val1378=)
c.2099G>A
c.708G>A (p.Val236=)
c.4155G>A (p.Val1385=)
c.4215G>A (p.Val1405=)
c.3867G>A (p.Val1289=)
c.3696G>A (p.Val1232=)
c.3582G>A (p.Val1194=)
c.3144G>A (p.Val1048=)
n.4412G>A
 dbSNP gnomAD v4
3g.47000335G>CCA433598392NBEAL2c.4236G>C (p.Val1412=)
c.4134G>C (p.Val1378=)
c.2099G>C
c.708G>C (p.Val236=)
c.4155G>C (p.Val1385=)
c.4215G>C (p.Val1405=)
c.3867G>C (p.Val1289=)
c.3696G>C (p.Val1232=)
c.3582G>C (p.Val1194=)
c.3144G>C (p.Val1048=)
n.4412G>C
3g.47000335G=CA1362363138NBEAL2c.4236G= (p.Val1412=)
c.4134G= (p.Val1378=)
c.2099G=
c.708G= (p.Val236=)
c.4155G= (p.Val1385=)
c.4215G= (p.Val1405=)
c.3867G= (p.Val1289=)
c.3696G= (p.Val1232=)
c.3582G= (p.Val1194=)
c.3144G= (p.Val1048=)
n.4412G=
3g.47000335G>TCA433598393NBEAL2c.4236G>T (p.Val1412=)
c.4134G>T (p.Val1378=)
c.2099G>T
c.708G>T (p.Val236=)
c.4155G>T (p.Val1385=)
c.4215G>T (p.Val1405=)
c.3867G>T (p.Val1289=)
c.3696G>T (p.Val1232=)
c.3582G>T (p.Val1194=)
c.3144G>T (p.Val1048=)
n.4412G>T
 dbSNP gnomAD v2 gnomAD v4
3g.47000336C>ACA352517180NBEAL2c.4237C>A (p.Leu1413Met)
c.4135C>A (p.Leu1379Met)
c.2100C>A
c.709C>A (p.Leu237Met)
c.4156C>A (p.Leu1386Met)
c.4216C>A (p.Leu1406Met)
c.3868C>A (p.Leu1290Met)
c.3697C>A (p.Leu1233Met)
c.3583C>A (p.Leu1195Met)
c.3145C>A (p.Leu1049Met)
n.4413C>A
3g.47000336C>GCA352517181NBEAL2c.4237C>G (p.Leu1413Val)
c.4135C>G (p.Leu1379Val)
c.2100C>G
c.709C>G (p.Leu237Val)
c.4156C>G (p.Leu1386Val)
c.4216C>G (p.Leu1406Val)
c.3868C>G (p.Leu1290Val)
c.3697C>G (p.Leu1233Val)
c.3583C>G (p.Leu1195Val)
c.3145C>G (p.Leu1049Val)
n.4413C>G
 gnomAD v4
3g.47000336C>TCA433598395NBEAL2c.4237C>T (p.Leu1413=)
c.4135C>T (p.Leu1379=)
c.2100C>T
c.709C>T (p.Leu237=)
c.4156C>T (p.Leu1386=)
c.4216C>T (p.Leu1406=)
c.3868C>T (p.Leu1290=)
c.3697C>T (p.Leu1233=)
c.3583C>T (p.Leu1195=)
c.3145C>T (p.Leu1049=)
n.4413C>T
3g.47000337T>ACA352517182NBEAL2c.4238T>A (p.Leu1413Gln)
c.4136T>A (p.Leu1379Gln)
c.2101T>A
c.710T>A (p.Leu237Gln)
c.4157T>A (p.Leu1386Gln)
c.4217T>A (p.Leu1406Gln)
c.3869T>A (p.Leu1290Gln)
c.3698T>A (p.Leu1233Gln)
c.3584T>A (p.Leu1195Gln)
c.3146T>A (p.Leu1049Gln)
n.4414T>A
3g.47000337T>CCA2361179NBEAL2c.4238T>C (p.Leu1413Pro)
c.4136T>C (p.Leu1379Pro)
c.2101T>C
c.710T>C (p.Leu237Pro)
c.4157T>C (p.Leu1386Pro)
c.4217T>C (p.Leu1406Pro)
c.3869T>C (p.Leu1290Pro)
c.3698T>C (p.Leu1233Pro)
c.3584T>C (p.Leu1195Pro)
c.3146T>C (p.Leu1049Pro)
n.4414T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.47000337T>GCA352517183NBEAL2c.4238T>G (p.Leu1413Arg)
c.4136T>G (p.Leu1379Arg)
c.2101T>G
c.710T>G (p.Leu237Arg)
c.4157T>G (p.Leu1386Arg)
c.4217T>G (p.Leu1406Arg)
c.3869T>G (p.Leu1290Arg)
c.3698T>G (p.Leu1233Arg)
c.3584T>G (p.Leu1195Arg)
c.3146T>G (p.Leu1049Arg)
n.4414T>G
3g.47000337T=CA1362363139NBEAL2c.4238T= (p.Leu1413=)
c.4136T= (p.Leu1379=)
c.2101T=
c.710T= (p.Leu237=)
c.4157T= (p.Leu1386=)
c.4217T= (p.Leu1406=)
c.3869T= (p.Leu1290=)
c.3698T= (p.Leu1233=)
c.3584T= (p.Leu1195=)
c.3146T= (p.Leu1049=)
n.4414T=
3g.47000338G>ACA433598396NBEAL2c.4239G>A (p.Leu1413=)
c.4137G>A (p.Leu1379=)
c.2102G>A
c.711G>A (p.Leu237=)
c.4158G>A (p.Leu1386=)
c.4218G>A (p.Leu1406=)
c.3870G>A (p.Leu1290=)
c.3699G>A (p.Leu1233=)
c.3585G>A (p.Leu1195=)
c.3147G>A (p.Leu1049=)
n.4415G>A
3g.47000338G>CCA433598397NBEAL2c.4239G>C (p.Leu1413=)
c.4137G>C (p.Leu1379=)
c.2102G>C
c.711G>C (p.Leu237=)
c.4158G>C (p.Leu1386=)
c.4218G>C (p.Leu1406=)
c.3870G>C (p.Leu1290=)
c.3699G>C (p.Leu1233=)
c.3585G>C (p.Leu1195=)
c.3147G>C (p.Leu1049=)
n.4415G>C
3g.47000338G>TCA433598398NBEAL2c.4239G>T (p.Leu1413=)
c.4137G>T (p.Leu1379=)
c.2102G>T
c.711G>T (p.Leu237=)
c.4158G>T (p.Leu1386=)
c.4218G>T (p.Leu1406=)
c.3870G>T (p.Leu1290=)
c.3699G>T (p.Leu1233=)
c.3585G>T (p.Leu1195=)
c.3147G>T (p.Leu1049=)
n.4415G>T
3g.47000339G>ACA352517184NBEAL2c.4240G>A (p.Glu1414Lys)
c.4138G>A (p.Glu1380Lys)
c.2103G>A
c.712G>A (p.Glu238Lys)
c.4159G>A (p.Glu1387Lys)
c.4219G>A (p.Glu1407Lys)
c.3871G>A (p.Glu1291Lys)
c.3700G>A (p.Glu1234Lys)
c.3586G>A (p.Glu1196Lys)
c.3148G>A (p.Glu1050Lys)
n.4416G>A
 gnomAD v4
3g.47000339G>CCA352517185NBEAL2c.4240G>C (p.Glu1414Gln)
c.4138G>C (p.Glu1380Gln)
c.2103G>C
c.712G>C (p.Glu238Gln)
c.4159G>C (p.Glu1387Gln)
c.4219G>C (p.Glu1407Gln)
c.3871G>C (p.Glu1291Gln)
c.3700G>C (p.Glu1234Gln)
c.3586G>C (p.Glu1196Gln)
c.3148G>C (p.Glu1050Gln)
n.4416G>C
 gnomAD v4
3g.47000339G>TCA352517186NBEAL2c.4240G>T (p.Glu1414Ter)
c.4138G>T (p.Glu1380Ter)
c.2103G>T
c.712G>T (p.Glu238Ter)
c.4159G>T (p.Glu1387Ter)
c.4219G>T (p.Glu1407Ter)
c.3871G>T (p.Glu1291Ter)
c.3700G>T (p.Glu1234Ter)
c.3586G>T (p.Glu1196Ter)
c.3148G>T (p.Glu1050Ter)
n.4416G>T
3g.47000340A>CCA352517189NBEAL2c.4241A>C (p.Glu1414Ala)
c.4139A>C (p.Glu1380Ala)
c.2104A>C
c.713A>C (p.Glu238Ala)
c.4160A>C (p.Glu1387Ala)
c.4220A>C (p.Glu1407Ala)
c.3872A>C (p.Glu1291Ala)
c.3701A>C (p.Glu1234Ala)
c.3587A>C (p.Glu1196Ala)
c.3149A>C (p.Glu1050Ala)
n.4417A>C
3g.47000340A>GCA352517187NBEAL2c.4241A>G (p.Glu1414Gly)
c.4139A>G (p.Glu1380Gly)
c.2104A>G
c.713A>G (p.Glu238Gly)
c.4160A>G (p.Glu1387Gly)
c.4220A>G (p.Glu1407Gly)
c.3872A>G (p.Glu1291Gly)
c.3701A>G (p.Glu1234Gly)
c.3587A>G (p.Glu1196Gly)
c.3149A>G (p.Glu1050Gly)
n.4417A>G
3g.47000340A>TCA352517188NBEAL2c.4241A>T (p.Glu1414Val)
c.4139A>T (p.Glu1380Val)
c.2104A>T
c.713A>T (p.Glu238Val)
c.4160A>T (p.Glu1387Val)
c.4220A>T (p.Glu1407Val)
c.3872A>T (p.Glu1291Val)
c.3701A>T (p.Glu1234Val)
c.3587A>T (p.Glu1196Val)
c.3149A>T (p.Glu1050Val)
n.4417A>T
3g.47000341G>ACA433598402NBEAL2c.4242G>A (p.Glu1414=)
c.4140G>A (p.Glu1380=)
c.2105G>A
c.714G>A (p.Glu238=)
c.4161G>A (p.Glu1387=)
c.4221G>A (p.Glu1407=)
c.3873G>A (p.Glu1291=)
c.3702G>A (p.Glu1234=)
c.3588G>A (p.Glu1196=)
c.3150G>A (p.Glu1050=)
n.4418G>A
3g.47000341G>CCA352517190NBEAL2c.4242G>C (p.Glu1414Asp)
c.4140G>C (p.Glu1380Asp)
c.2105G>C
c.714G>C (p.Glu238Asp)
c.4161G>C (p.Glu1387Asp)
c.4221G>C (p.Glu1407Asp)
c.3873G>C (p.Glu1291Asp)
c.3702G>C (p.Glu1234Asp)
c.3588G>C (p.Glu1196Asp)
c.3150G>C (p.Glu1050Asp)
n.4418G>C
3g.47000341G>TCA352517191NBEAL2c.4242G>T (p.Glu1414Asp)
c.4140G>T (p.Glu1380Asp)
c.2105G>T
c.714G>T (p.Glu238Asp)
c.4161G>T (p.Glu1387Asp)
c.4221G>T (p.Glu1407Asp)
c.3873G>T (p.Glu1291Asp)
c.3702G>T (p.Glu1234Asp)
c.3588G>T (p.Glu1196Asp)
c.3150G>T (p.Glu1050Asp)
n.4418G>T
3g.47000342G>ACA352517192NBEAL2c.4243G>A (p.Asp1415Asn)
c.4141G>A (p.Asp1381Asn)
c.2106G>A
c.715G>A (p.Asp239Asn)
c.4162G>A (p.Asp1388Asn)
c.4222G>A (p.Asp1408Asn)
c.3874G>A (p.Asp1292Asn)
c.3703G>A (p.Asp1235Asn)
c.3589G>A (p.Asp1197Asn)
c.3151G>A (p.Asp1051Asn)
n.4419G>A
3g.47000342G>CCA352517193NBEAL2c.4243G>C (p.Asp1415His)
c.4141G>C (p.Asp1381His)
c.2106G>C
c.715G>C (p.Asp239His)
c.4162G>C (p.Asp1388His)
c.4222G>C (p.Asp1408His)
c.3874G>C (p.Asp1292His)
c.3703G>C (p.Asp1235His)
c.3589G>C (p.Asp1197His)
c.3151G>C (p.Asp1051His)
n.4419G>C
3g.47000342G=CA1362363140NBEAL2c.4243G= (p.Asp1415=)
c.4141G= (p.Asp1381=)
c.2106G=
c.715G= (p.Asp239=)
c.4162G= (p.Asp1388=)
c.4222G= (p.Asp1408=)
c.3874G= (p.Asp1292=)
c.3703G= (p.Asp1235=)
c.3589G= (p.Asp1197=)
c.3151G= (p.Asp1051=)
n.4419G=
3g.47000342G>TCA352517194NBEAL2c.4243G>T (p.Asp1415Tyr)
c.4141G>T (p.Asp1381Tyr)
c.2106G>T
c.715G>T (p.Asp239Tyr)
c.4162G>T (p.Asp1388Tyr)
c.4222G>T (p.Asp1408Tyr)
c.3874G>T (p.Asp1292Tyr)
c.3703G>T (p.Asp1235Tyr)
c.3589G>T (p.Asp1197Tyr)
c.3151G>T (p.Asp1051Tyr)
n.4419G>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.47000343A=CA1362363141NBEAL2c.4244A= (p.Asp1415=)
c.4142A= (p.Asp1381=)
c.2107A=
c.716A= (p.Asp239=)
c.4163A= (p.Asp1388=)
c.4223A= (p.Asp1408=)
c.3875A= (p.Asp1292=)
c.3704A= (p.Asp1235=)
c.3590A= (p.Asp1197=)
c.3152A= (p.Asp1051=)
n.4420A=
3g.47000343A>CCA352517195NBEAL2c.4244A>C (p.Asp1415Ala)
c.4142A>C (p.Asp1381Ala)
c.2107A>C
c.716A>C (p.Asp239Ala)
c.4163A>C (p.Asp1388Ala)
c.4223A>C (p.Asp1408Ala)
c.3875A>C (p.Asp1292Ala)
c.3704A>C (p.Asp1235Ala)
c.3590A>C (p.Asp1197Ala)
c.3152A>C (p.Asp1051Ala)
n.4420A>C
 dbSNP gnomAD v3 gnomAD v4
3g.47000343A>GCA352517196NBEAL2c.4244A>G (p.Asp1415Gly)
c.4142A>G (p.Asp1381Gly)
c.2107A>G
c.716A>G (p.Asp239Gly)
c.4163A>G (p.Asp1388Gly)
c.4223A>G (p.Asp1408Gly)
c.3875A>G (p.Asp1292Gly)
c.3704A>G (p.Asp1235Gly)
c.3590A>G (p.Asp1197Gly)
c.3152A>G (p.Asp1051Gly)
n.4420A>G
 gnomAD v4
3g.47000343A>TCA352517197NBEAL2c.4244A>T (p.Asp1415Val)
c.4142A>T (p.Asp1381Val)
c.2107A>T
c.716A>T (p.Asp239Val)
c.4163A>T (p.Asp1388Val)
c.4223A>T (p.Asp1408Val)
c.3875A>T (p.Asp1292Val)
c.3704A>T (p.Asp1235Val)
c.3590A>T (p.Asp1197Val)
c.3152A>T (p.Asp1051Val)
n.4420A>T
3g.47000344C>ACA352517198NBEAL2c.4245C>A (p.Asp1415Glu)
c.4143C>A (p.Asp1381Glu)
c.2108C>A
c.717C>A (p.Asp239Glu)
c.4164C>A (p.Asp1388Glu)
c.4224C>A (p.Asp1408Glu)
c.3876C>A (p.Asp1292Glu)
c.3705C>A (p.Asp1235Glu)
c.3591C>A (p.Asp1197Glu)
c.3153C>A (p.Asp1051Glu)
n.4421C>A
 gnomAD v4
3g.47000344C=CA1362363142NBEAL2c.4245C= (p.Asp1415=)
c.4143C= (p.Asp1381=)
c.2108C=
c.717C= (p.Asp239=)
c.4164C= (p.Asp1388=)
c.4224C= (p.Asp1408=)
c.3876C= (p.Asp1292=)
c.3705C= (p.Asp1235=)
c.3591C= (p.Asp1197=)
c.3153C= (p.Asp1051=)
n.4421C=
3g.47000344C>GCA352517199NBEAL2c.4245C>G (p.Asp1415Glu)
c.4143C>G (p.Asp1381Glu)
c.2108C>G
c.717C>G (p.Asp239Glu)
c.4164C>G (p.Asp1388Glu)
c.4224C>G (p.Asp1408Glu)
c.3876C>G (p.Asp1292Glu)
c.3705C>G (p.Asp1235Glu)
c.3591C>G (p.Asp1197Glu)
c.3153C>G (p.Asp1051Glu)
n.4421C>G
3g.47000344C>TCA2361180NBEAL2c.4245C>T (p.Asp1415=)
c.4143C>T (p.Asp1381=)
c.2108C>T
c.717C>T (p.Asp239=)
c.4164C>T (p.Asp1388=)
c.4224C>T (p.Asp1408=)
c.3876C>T (p.Asp1292=)
c.3705C>T (p.Asp1235=)
c.3591C>T (p.Asp1197=)
c.3153C>T (p.Asp1051=)
n.4421C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.47000345G>ACA2361181NBEAL2c.4246G>A (p.Gly1416Ser)
c.4144G>A (p.Gly1382Ser)
c.2109G>A
c.718G>A (p.Gly240Ser)
c.4165G>A (p.Gly1389Ser)
c.4225G>A (p.Gly1409Ser)
c.3877G>A (p.Gly1293Ser)
c.3706G>A (p.Gly1236Ser)
c.3592G>A (p.Gly1198Ser)
c.3154G>A (p.Gly1052Ser)
n.4422G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.47000345G>CCA352517201NBEAL2c.4246G>C (p.Gly1416Arg)
c.4144G>C (p.Gly1382Arg)
c.2109G>C
c.718G>C (p.Gly240Arg)
c.4165G>C (p.Gly1389Arg)
c.4225G>C (p.Gly1409Arg)
c.3877G>C (p.Gly1293Arg)
c.3706G>C (p.Gly1236Arg)
c.3592G>C (p.Gly1198Arg)
c.3154G>C (p.Gly1052Arg)
n.4422G>C
 gnomAD v4
3g.47000345G=CA1362363143NBEAL2c.4246G= (p.Gly1416=)
c.4144G= (p.Gly1382=)
c.2109G=
c.718G= (p.Gly240=)
c.4165G= (p.Gly1389=)
c.4225G= (p.Gly1409=)
c.3877G= (p.Gly1293=)
c.3706G= (p.Gly1236=)
c.3592G= (p.Gly1198=)
c.3154G= (p.Gly1052=)
n.4422G=
3g.47000345G>TCA352517200NBEAL2c.4246G>T (p.Gly1416Cys)
c.4144G>T (p.Gly1382Cys)
c.2109G>T
c.718G>T (p.Gly240Cys)
c.4165G>T (p.Gly1389Cys)
c.4225G>T (p.Gly1409Cys)
c.3877G>T (p.Gly1293Cys)
c.3706G>T (p.Gly1236Cys)
c.3592G>T (p.Gly1198Cys)
c.3154G>T (p.Gly1052Cys)
n.4422G>T
 gnomAD v4
3g.47000346G>ACA352517202NBEAL2c.4247G>A (p.Gly1416Asp)
c.4145G>A (p.Gly1382Asp)
c.2110G>A
c.719G>A (p.Gly240Asp)
c.4166G>A (p.Gly1389Asp)
c.4226G>A (p.Gly1409Asp)
c.3878G>A (p.Gly1293Asp)
c.3707G>A (p.Gly1236Asp)
c.3593G>A (p.Gly1198Asp)
c.3155G>A (p.Gly1052Asp)
n.4423G>A
 gnomAD v4 COSMIC COSMIC
3g.47000346G>CCA352517203NBEAL2c.4247G>C (p.Gly1416Ala)
c.4145G>C (p.Gly1382Ala)
c.2110G>C
c.719G>C (p.Gly240Ala)
c.4166G>C (p.Gly1389Ala)
c.4226G>C (p.Gly1409Ala)
c.3878G>C (p.Gly1293Ala)
c.3707G>C (p.Gly1236Ala)
c.3593G>C (p.Gly1198Ala)
c.3155G>C (p.Gly1052Ala)
n.4423G>C
3g.47000346G>TCA352517204NBEAL2c.4247G>T (p.Gly1416Val)
c.4145G>T (p.Gly1382Val)
c.2110G>T
c.719G>T (p.Gly240Val)
c.4166G>T (p.Gly1389Val)
c.4226G>T (p.Gly1409Val)
c.3878G>T (p.Gly1293Val)
c.3707G>T (p.Gly1236Val)
c.3593G>T (p.Gly1198Val)
c.3155G>T (p.Gly1052Val)
n.4423G>T
3g.47000347C>ACA433598406NBEAL2c.4248C>A (p.Gly1416=)
c.4146C>A (p.Gly1382=)
c.2111C>A
c.720C>A (p.Gly240=)
c.4167C>A (p.Gly1389=)
c.4227C>A (p.Gly1409=)
c.3879C>A (p.Gly1293=)
c.3708C>A (p.Gly1236=)
c.3594C>A (p.Gly1198=)
c.3156C>A (p.Gly1052=)
n.4424C>A
 gnomAD v4
3g.47000347C=CA1362363144NBEAL2c.4248C= (p.Gly1416=)
c.4146C= (p.Gly1382=)
c.2111C=
c.720C= (p.Gly240=)
c.4167C= (p.Gly1389=)
c.4227C= (p.Gly1409=)
c.3879C= (p.Gly1293=)
c.3708C= (p.Gly1236=)
c.3594C= (p.Gly1198=)
c.3156C= (p.Gly1052=)
n.4424C=
3g.47000347C>GCA433598408NBEAL2c.4248C>G (p.Gly1416=)
c.4146C>G (p.Gly1382=)
c.2111C>G
c.720C>G (p.Gly240=)
c.4167C>G (p.Gly1389=)
c.4227C>G (p.Gly1409=)
c.3879C>G (p.Gly1293=)
c.3708C>G (p.Gly1236=)
c.3594C>G (p.Gly1198=)
c.3156C>G (p.Gly1052=)
n.4424C>G
3g.47000347C>TCA2361182NBEAL2c.4248C>T (p.Gly1416=)
c.4146C>T (p.Gly1382=)
c.2111C>T
c.720C>T (p.Gly240=)
c.4167C>T (p.Gly1389=)
c.4227C>T (p.Gly1409=)
c.3879C>T (p.Gly1293=)
c.3708C>T (p.Gly1236=)
c.3594C>T (p.Gly1198=)
c.3156C>T (p.Gly1052=)
n.4424C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.47000348A>CCA352517205NBEAL2c.4249A>C (p.Ser1417Arg)
c.4147A>C (p.Ser1383Arg)
c.2112A>C
c.721A>C (p.Ser241Arg)
c.4168A>C (p.Ser1390Arg)
c.4228A>C (p.Ser1410Arg)
c.3880A>C (p.Ser1294Arg)
c.3709A>C (p.Ser1237Arg)
c.3595A>C (p.Ser1199Arg)
c.3157A>C (p.Ser1053Arg)
n.4425A>C
3g.47000348A>GCA352517206NBEAL2c.4249A>G (p.Ser1417Gly)
c.4147A>G (p.Ser1383Gly)
c.2112A>G
c.721A>G (p.Ser241Gly)
c.4168A>G (p.Ser1390Gly)
c.4228A>G (p.Ser1410Gly)
c.3880A>G (p.Ser1294Gly)
c.3709A>G (p.Ser1237Gly)
c.3595A>G (p.Ser1199Gly)
c.3157A>G (p.Ser1053Gly)
n.4425A>G
3g.47000348A>TCA352517207NBEAL2c.4249A>T (p.Ser1417Cys)
c.4147A>T (p.Ser1383Cys)
c.2112A>T
c.721A>T (p.Ser241Cys)
c.4168A>T (p.Ser1390Cys)
c.4228A>T (p.Ser1410Cys)
c.3880A>T (p.Ser1294Cys)
c.3709A>T (p.Ser1237Cys)
c.3595A>T (p.Ser1199Cys)
c.3157A>T (p.Ser1053Cys)
n.4425A>T
3g.47000349G>ACA352517208NBEAL2c.4250G>A (p.Ser1417Asn)
c.4148G>A (p.Ser1383Asn)
c.2113G>A
c.722G>A (p.Ser241Asn)
c.4169G>A (p.Ser1390Asn)
c.4229G>A (p.Ser1410Asn)
c.3881G>A (p.Ser1294Asn)
c.3710G>A (p.Ser1237Asn)
c.3596G>A (p.Ser1199Asn)
c.3158G>A (p.Ser1053Asn)
n.4426G>A
 gnomAD v4
3g.47000349G>CCA352517209NBEAL2c.4250G>C (p.Ser1417Thr)
c.4148G>C (p.Ser1383Thr)
c.2113G>C
c.722G>C (p.Ser241Thr)
c.4169G>C (p.Ser1390Thr)
c.4229G>C (p.Ser1410Thr)
c.3881G>C (p.Ser1294Thr)
c.3710G>C (p.Ser1237Thr)
c.3596G>C (p.Ser1199Thr)
c.3158G>C (p.Ser1053Thr)
n.4426G>C
3g.47000349G>TCA352517210NBEAL2c.4250G>T (p.Ser1417Ile)
c.4148G>T (p.Ser1383Ile)
c.2113G>T
c.722G>T (p.Ser241Ile)
c.4169G>T (p.Ser1390Ile)
c.4229G>T (p.Ser1410Ile)
c.3881G>T (p.Ser1294Ile)
c.3710G>T (p.Ser1237Ile)
c.3596G>T (p.Ser1199Ile)
c.3158G>T (p.Ser1053Ile)
n.4426G>T
3g.47000350C>ACA352517211NBEAL2c.4251C>A (p.Ser1417Arg)
c.4149C>A (p.Ser1383Arg)
c.2114C>A
c.723C>A (p.Ser241Arg)
c.4170C>A (p.Ser1390Arg)
c.4230C>A (p.Ser1410Arg)
c.3882C>A (p.Ser1294Arg)
c.3711C>A (p.Ser1237Arg)
c.3597C>A (p.Ser1199Arg)
c.3159C>A (p.Ser1053Arg)
n.4427C>A
 dbSNP gnomAD v2 gnomAD v4
3g.47000350C=CA1362363145NBEAL2c.4251C= (p.Ser1417=)
c.4149C= (p.Ser1383=)
c.2114C=
c.723C= (p.Ser241=)
c.4170C= (p.Ser1390=)
c.4230C= (p.Ser1410=)
c.3882C= (p.Ser1294=)
c.3711C= (p.Ser1237=)
c.3597C= (p.Ser1199=)
c.3159C= (p.Ser1053=)
n.4427C=
3g.47000350C>GCA352517212NBEAL2c.4251C>G (p.Ser1417Arg)
c.4149C>G (p.Ser1383Arg)
c.2114C>G
c.723C>G (p.Ser241Arg)
c.4170C>G (p.Ser1390Arg)
c.4230C>G (p.Ser1410Arg)
c.3882C>G (p.Ser1294Arg)
c.3711C>G (p.Ser1237Arg)
c.3597C>G (p.Ser1199Arg)
c.3159C>G (p.Ser1053Arg)
n.4427C>G
3g.47000350C>TCA433598411NBEAL2c.4251C>T (p.Ser1417=)
c.4149C>T (p.Ser1383=)
c.2114C>T
c.723C>T (p.Ser241=)
c.4170C>T (p.Ser1390=)
c.4230C>T (p.Ser1410=)
c.3882C>T (p.Ser1294=)
c.3711C>T (p.Ser1237=)
c.3597C>T (p.Ser1199=)
c.3159C>T (p.Ser1053=)
n.4427C>T
 gnomAD v4
3g.47000351C>ACA352517215NBEAL2c.4252C>A (p.Leu1418Ile)
c.4150C>A (p.Leu1384Ile)
c.2115C>A
c.724C>A (p.Leu242Ile)
c.4171C>A (p.Leu1391Ile)
c.4231C>A (p.Leu1411Ile)
c.3883C>A (p.Leu1295Ile)
c.3712C>A (p.Leu1238Ile)
c.3598C>A (p.Leu1200Ile)
c.3160C>A (p.Leu1054Ile)
n.4428C>A
3g.47000351C>GCA352517213NBEAL2c.4252C>G (p.Leu1418Val)
c.4150C>G (p.Leu1384Val)
c.2115C>G
c.724C>G (p.Leu242Val)
c.4171C>G (p.Leu1391Val)
c.4231C>G (p.Leu1411Val)
c.3883C>G (p.Leu1295Val)
c.3712C>G (p.Leu1238Val)
c.3598C>G (p.Leu1200Val)
c.3160C>G (p.Leu1054Val)
n.4428C>G
3g.47000351C>TCA352517214NBEAL2c.4252C>T (p.Leu1418Phe)
c.4150C>T (p.Leu1384Phe)
c.2115C>T
c.724C>T (p.Leu242Phe)
c.4171C>T (p.Leu1391Phe)
c.4231C>T (p.Leu1411Phe)
c.3883C>T (p.Leu1295Phe)
c.3712C>T (p.Leu1238Phe)
c.3598C>T (p.Leu1200Phe)
c.3160C>T (p.Leu1054Phe)
n.4428C>T
 gnomAD v4
3g.47000352T>ACA352517216NBEAL2c.4253T>A (p.Leu1418His)
c.4151T>A (p.Leu1384His)
c.2116T>A
c.725T>A (p.Leu242His)
c.4172T>A (p.Leu1391His)
c.4232T>A (p.Leu1411His)
c.3884T>A (p.Leu1295His)
c.3713T>A (p.Leu1238His)
c.3599T>A (p.Leu1200His)
c.3161T>A (p.Leu1054His)
n.4429T>A
3g.47000352T>CCA352517217NBEAL2c.4253T>C (p.Leu1418Pro)
c.4151T>C (p.Leu1384Pro)
c.2116T>C
c.725T>C (p.Leu242Pro)
c.4172T>C (p.Leu1391Pro)
c.4232T>C (p.Leu1411Pro)
c.3884T>C (p.Leu1295Pro)
c.3713T>C (p.Leu1238Pro)
c.3599T>C (p.Leu1200Pro)
c.3161T>C (p.Leu1054Pro)
n.4429T>C
3g.47000352T>GCA352517218NBEAL2c.4253T>G (p.Leu1418Arg)
c.4151T>G (p.Leu1384Arg)
c.2116T>G
c.725T>G (p.Leu242Arg)
c.4172T>G (p.Leu1391Arg)
c.4232T>G (p.Leu1411Arg)
c.3884T>G (p.Leu1295Arg)
c.3713T>G (p.Leu1238Arg)
c.3599T>G (p.Leu1200Arg)
c.3161T>G (p.Leu1054Arg)
n.4429T>G
3g.47000353C>ACA433598416NBEAL2c.4254C>A (p.Leu1418=)
c.4152C>A (p.Leu1384=)
c.2117C>A
c.726C>A (p.Leu242=)
c.4173C>A (p.Leu1391=)
c.4233C>A (p.Leu1411=)
c.3885C>A (p.Leu1295=)
c.3714C>A (p.Leu1238=)
c.3600C>A (p.Leu1200=)
c.3162C>A (p.Leu1054=)
n.4430C>A
3g.47000353C>GCA433598417NBEAL2c.4254C>G (p.Leu1418=)
c.4152C>G (p.Leu1384=)
c.2117C>G
c.726C>G (p.Leu242=)
c.4173C>G (p.Leu1391=)
c.4233C>G (p.Leu1411=)
c.3885C>G (p.Leu1295=)
c.3714C>G (p.Leu1238=)
c.3600C>G (p.Leu1200=)
c.3162C>G (p.Leu1054=)
n.4430C>G
3g.47000353C>TCA433598419NBEAL2c.4254C>T (p.Leu1418=)
c.4152C>T (p.Leu1384=)
c.2117C>T
c.726C>T (p.Leu242=)
c.4173C>T (p.Leu1391=)
c.4233C>T (p.Leu1411=)
c.3885C>T (p.Leu1295=)
c.3714C>T (p.Leu1238=)
c.3600C>T (p.Leu1200=)
c.3162C>T (p.Leu1054=)
n.4430C>T
 gnomAD v4
3g.47000354C>ACA352517219NBEAL2c.4255C>A (p.Pro1419Thr)
c.4153C>A (p.Pro1385Thr)
c.2118C>A
c.727C>A (p.Pro243Thr)
c.4174C>A (p.Pro1392Thr)
c.4234C>A (p.Pro1412Thr)
c.3886C>A (p.Pro1296Thr)
c.3715C>A (p.Pro1239Thr)
c.3601C>A (p.Pro1201Thr)
c.3163C>A (p.Pro1055Thr)
n.4431C>A
3g.47000354C>GCA352517220NBEAL2c.4255C>G (p.Pro1419Ala)
c.4153C>G (p.Pro1385Ala)
c.2118C>G
c.727C>G (p.Pro243Ala)
c.4174C>G (p.Pro1392Ala)
c.4234C>G (p.Pro1412Ala)
c.3886C>G (p.Pro1296Ala)
c.3715C>G (p.Pro1239Ala)
c.3601C>G (p.Pro1201Ala)
c.3163C>G (p.Pro1055Ala)
n.4431C>G
3g.47000354C>TCA352517221NBEAL2c.4255C>T (p.Pro1419Ser)
c.4153C>T (p.Pro1385Ser)
c.2118C>T
c.727C>T (p.Pro243Ser)
c.4174C>T (p.Pro1392Ser)
c.4234C>T (p.Pro1412Ser)
c.3886C>T (p.Pro1296Ser)
c.3715C>T (p.Pro1239Ser)
c.3601C>T (p.Pro1201Ser)
c.3163C>T (p.Pro1055Ser)
n.4431C>T
3g.47000355C>ACA352517222NBEAL2c.4256C>A (p.Pro1419Gln)
c.4154C>A (p.Pro1385Gln)
c.2119C>A
c.728C>A (p.Pro243Gln)
c.4175C>A (p.Pro1392Gln)
c.4235C>A (p.Pro1412Gln)
c.3887C>A (p.Pro1296Gln)
c.3716C>A (p.Pro1239Gln)
c.3602C>A (p.Pro1201Gln)
c.3164C>A (p.Pro1055Gln)
n.4432C>A
3g.47000355C=CA1362363146NBEAL2c.4256C= (p.Pro1419=)
c.4154C= (p.Pro1385=)
c.2119C=
c.728C= (p.Pro243=)
c.4175C= (p.Pro1392=)
c.4235C= (p.Pro1412=)
c.3887C= (p.Pro1296=)
c.3716C= (p.Pro1239=)
c.3602C= (p.Pro1201=)
c.3164C= (p.Pro1055=)
n.4432C=
3g.47000355C>GCA2361183NBEAL2c.4256C>G (p.Pro1419Arg)
c.4154C>G (p.Pro1385Arg)
c.2119C>G
c.728C>G (p.Pro243Arg)
c.4175C>G (p.Pro1392Arg)
c.4235C>G (p.Pro1412Arg)
c.3887C>G (p.Pro1296Arg)
c.3716C>G (p.Pro1239Arg)
c.3602C>G (p.Pro1201Arg)
c.3164C>G (p.Pro1055Arg)
n.4432C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.47000355C>TCA2361184NBEAL2c.4256C>T (p.Pro1419Leu)
c.4154C>T (p.Pro1385Leu)
c.2119C>T
c.728C>T (p.Pro243Leu)
c.4175C>T (p.Pro1392Leu)
c.4235C>T (p.Pro1412Leu)
c.3887C>T (p.Pro1296Leu)
c.3716C>T (p.Pro1239Leu)
c.3602C>T (p.Pro1201Leu)
c.3164C>T (p.Pro1055Leu)
n.4432C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.47000356G>ACA2361185NBEAL2c.4257G>A (p.Pro1419=)
c.4155G>A (p.Pro1385=)
c.2120G>A
c.729G>A (p.Pro243=)
c.4176G>A (p.Pro1392=)
c.4236G>A (p.Pro1412=)
c.3888G>A (p.Pro1296=)
c.3717G>A (p.Pro1239=)
c.3603G>A (p.Pro1201=)
c.3165G>A (p.Pro1055=)
n.4433G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.47000356G>CCA433598423NBEAL2c.4257G>C (p.Pro1419=)
c.4155G>C (p.Pro1385=)
c.2120G>C
c.729G>C (p.Pro243=)
c.4176G>C (p.Pro1392=)
c.4236G>C (p.Pro1412=)
c.3888G>C (p.Pro1296=)
c.3717G>C (p.Pro1239=)
c.3603G>C (p.Pro1201=)
c.3165G>C (p.Pro1055=)
n.4433G>C
 gnomAD v4
3g.47000356G=CA1362363147NBEAL2c.4257G= (p.Pro1419=)
c.4155G= (p.Pro1385=)
c.2120G=
c.729G= (p.Pro243=)
c.4176G= (p.Pro1392=)
c.4236G= (p.Pro1412=)
c.3888G= (p.Pro1296=)
c.3717G= (p.Pro1239=)
c.3603G= (p.Pro1201=)
c.3165G= (p.Pro1055=)
n.4433G=
3g.47000356G>TCA433598424NBEAL2c.4257G>T (p.Pro1419=)
c.4155G>T (p.Pro1385=)
c.2120G>T
c.729G>T (p.Pro243=)
c.4176G>T (p.Pro1392=)
c.4236G>T (p.Pro1412=)
c.3888G>T (p.Pro1296=)
c.3717G>T (p.Pro1239=)
c.3603G>T (p.Pro1201=)
c.3165G>T (p.Pro1055=)
n.4433G>T
3g.47000357G>ACA352517223NBEAL2c.4258G>A (p.Glu1420Lys)
c.4156G>A (p.Glu1386Lys)
c.2121G>A
c.730G>A (p.Glu244Lys)
c.4177G>A (p.Glu1393Lys)
c.4237G>A (p.Glu1413Lys)
c.3889G>A (p.Glu1297Lys)
c.3718G>A (p.Glu1240Lys)
c.3604G>A (p.Glu1202Lys)
c.3166G>A (p.Glu1056Lys)
n.4434G>A
3g.47000357G>CCA352517224NBEAL2c.4258G>C (p.Glu1420Gln)
c.4156G>C (p.Glu1386Gln)
c.2121G>C
c.730G>C (p.Glu244Gln)
c.4177G>C (p.Glu1393Gln)
c.4237G>C (p.Glu1413Gln)
c.3889G>C (p.Glu1297Gln)
c.3718G>C (p.Glu1240Gln)
c.3604G>C (p.Glu1202Gln)
c.3166G>C (p.Glu1056Gln)
n.4434G>C
3g.47000357G>TCA352517225NBEAL2c.4258G>T (p.Glu1420Ter)
c.4156G>T (p.Glu1386Ter)
c.2121G>T
c.730G>T (p.Glu244Ter)
c.4177G>T (p.Glu1393Ter)
c.4237G>T (p.Glu1413Ter)
c.3889G>T (p.Glu1297Ter)
c.3718G>T (p.Glu1240Ter)
c.3604G>T (p.Glu1202Ter)
c.3166G>T (p.Glu1056Ter)
n.4434G>T
3g.47000358A>CCA352517227NBEAL2c.4259A>C (p.Glu1420Ala)
c.4157A>C (p.Glu1386Ala)
c.2122A>C
c.731A>C (p.Glu244Ala)
c.4178A>C (p.Glu1393Ala)
c.4238A>C (p.Glu1413Ala)
c.3890A>C (p.Glu1297Ala)
c.3719A>C (p.Glu1240Ala)
c.3605A>C (p.Glu1202Ala)
c.3167A>C (p.Glu1056Ala)
n.4435A>C
3g.47000358A>GCA352517228NBEAL2c.4259A>G (p.Glu1420Gly)
c.4157A>G (p.Glu1386Gly)
c.2122A>G
c.731A>G (p.Glu244Gly)
c.4178A>G (p.Glu1393Gly)
c.4238A>G (p.Glu1413Gly)
c.3890A>G (p.Glu1297Gly)
c.3719A>G (p.Glu1240Gly)
c.3605A>G (p.Glu1202Gly)
c.3167A>G (p.Glu1056Gly)
n.4435A>G
3g.47000358A>TCA352517226NBEAL2c.4259A>T (p.Glu1420Val)
c.4157A>T (p.Glu1386Val)
c.2122A>T
c.731A>T (p.Glu244Val)
c.4178A>T (p.Glu1393Val)
c.4238A>T (p.Glu1413Val)
c.3890A>T (p.Glu1297Val)
c.3719A>T (p.Glu1240Val)
c.3605A>T (p.Glu1202Val)
c.3167A>T (p.Glu1056Val)
n.4435A>T
3g.47000359G>ACA433598426NBEAL2c.4260G>A (p.Glu1420=)
c.4158G>A (p.Glu1386=)
c.2123G>A
c.732G>A (p.Glu244=)
c.4179G>A (p.Glu1393=)
c.4239G>A (p.Glu1413=)
c.3891G>A (p.Glu1297=)
c.3720G>A (p.Glu1240=)
c.3606G>A (p.Glu1202=)
c.3168G>A (p.Glu1056=)
n.4436G>A
3g.47000359G>CCA2361186NBEAL2c.4260G>C (p.Glu1420Asp)
c.4158G>C (p.Glu1386Asp)
c.2123G>C
c.732G>C (p.Glu244Asp)
c.4179G>C (p.Glu1393Asp)
c.4239G>C (p.Glu1413Asp)
c.3891G>C (p.Glu1297Asp)
c.3720G>C (p.Glu1240Asp)
c.3606G>C (p.Glu1202Asp)
c.3168G>C (p.Glu1056Asp)
n.4436G>C
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.47000359G=CA1362363148NBEAL2c.4260G= (p.Glu1420=)
c.4158G= (p.Glu1386=)
c.2123G=
c.732G= (p.Glu244=)
c.4179G= (p.Glu1393=)
c.4239G= (p.Glu1413=)
c.3891G= (p.Glu1297=)
c.3720G= (p.Glu1240=)
c.3606G= (p.Glu1202=)
c.3168G= (p.Glu1056=)
n.4436G=
3g.47000359G>TCA352517229NBEAL2c.4260G>T (p.Glu1420Asp)
c.4158G>T (p.Glu1386Asp)
c.2123G>T
c.732G>T (p.Glu244Asp)
c.4179G>T (p.Glu1393Asp)
c.4239G>T (p.Glu1413Asp)
c.3891G>T (p.Glu1297Asp)
c.3720G>T (p.Glu1240Asp)
c.3606G>T (p.Glu1202Asp)
c.3168G>T (p.Glu1056Asp)
n.4436G>T
3g.47000359dupCA2665493271NBEAL2c.4260dup (p.Pro1421AlafsTer4)
c.4158dup (p.Pro1387AlafsTer4)
c.2123dup
c.732dup (p.Pro245AlafsTer4)
c.4179dup (p.Pro1394AlafsTer4)
c.4239dup (p.Pro1414AlafsTer4)
c.3891dup (p.Pro1298AlafsTer4)
c.3720dup (p.Pro1241AlafsTer4)
c.3606dup (p.Pro1203AlafsTer4)
c.3168dup (p.Pro1057AlafsTer4)
n.4436dup
 gnomAD v4
3g.47000360C>ACA352517230NBEAL2c.4261C>A (p.Pro1421Thr)
c.4159C>A (p.Pro1387Thr)
c.2124C>A
c.733C>A (p.Pro245Thr)
c.4180C>A (p.Pro1394Thr)
c.4240C>A (p.Pro1414Thr)
c.3892C>A (p.Pro1298Thr)
c.3721C>A (p.Pro1241Thr)
c.3607C>A (p.Pro1203Thr)
c.3169C>A (p.Pro1057Thr)
n.4437C>A
3g.47000360C=CA1362363149NBEAL2c.4261C= (p.Pro1421=)
c.4159C= (p.Pro1387=)
c.2124C=
c.733C= (p.Pro245=)
c.4180C= (p.Pro1394=)
c.4240C= (p.Pro1414=)
c.3892C= (p.Pro1298=)
c.3721C= (p.Pro1241=)
c.3607C= (p.Pro1203=)
c.3169C= (p.Pro1057=)
n.4437C=
3g.47000360C>GCA352517231NBEAL2c.4261C>G (p.Pro1421Ala)
c.4159C>G (p.Pro1387Ala)
c.2124C>G
c.733C>G (p.Pro245Ala)
c.4180C>G (p.Pro1394Ala)
c.4240C>G (p.Pro1414Ala)
c.3892C>G (p.Pro1298Ala)
c.3721C>G (p.Pro1241Ala)
c.3607C>G (p.Pro1203Ala)
c.3169C>G (p.Pro1057Ala)
n.4437C>G
3g.47000360C>TCA2361187NBEAL2c.4261C>T (p.Pro1421Ser)
c.4159C>T (p.Pro1387Ser)
c.2124C>T
c.733C>T (p.Pro245Ser)
c.4180C>T (p.Pro1394Ser)
c.4240C>T (p.Pro1414Ser)
c.3892C>T (p.Pro1298Ser)
c.3721C>T (p.Pro1241Ser)
c.3607C>T (p.Pro1203Ser)
c.3169C>T (p.Pro1057Ser)
n.4437C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.47000360_47000363delinsCCCACA1362363150NBEAL2c.4261_4264delinsCCCA (p.Pro1421=)
c.4159_4162delinsCCCA (p.Pro1387=)
c.2124_2127delinsCCCA
c.733_736delinsCCCA (p.Pro245=)
c.4180_4183delinsCCCA (p.Pro1394=)
c.4240_4243delinsCCCA (p.Pro1414=)
c.3892_3895delinsCCCA (p.Pro1298=)
c.3721_3724delinsCCCA (p.Pro1241=)
c.3607_3610delinsCCCA (p.Pro1203=)
c.3169_3172delinsCCCA (p.Pro1057=)
n.4437_4440delinsCCCA
3g.47000361C>ACA2361189NBEAL2c.4262C>A (p.Pro1421His)
c.4160C>A (p.Pro1387His)
c.2125C>A
c.734C>A (p.Pro245His)
c.4181C>A (p.Pro1394His)
c.4241C>A (p.Pro1414His)
c.3893C>A (p.Pro1298His)
c.3722C>A (p.Pro1241His)
c.3608C>A (p.Pro1203His)
c.3170C>A (p.Pro1057His)
n.4438C>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.47000361C=CA1362363151NBEAL2c.4262C= (p.Pro1421=)
c.4160C= (p.Pro1387=)
c.2125C=
c.734C= (p.Pro245=)
c.4181C= (p.Pro1394=)
c.4241C= (p.Pro1414=)
c.3893C= (p.Pro1298=)
c.3722C= (p.Pro1241=)
c.3608C= (p.Pro1203=)
c.3170C= (p.Pro1057=)
n.4438C=
3g.47000361C>GCA2361188NBEAL2c.4262C>G (p.Pro1421Arg)
c.4160C>G (p.Pro1387Arg)
c.2125C>G
c.734C>G (p.Pro245Arg)
c.4181C>G (p.Pro1394Arg)
c.4241C>G (p.Pro1414Arg)
c.3893C>G (p.Pro1298Arg)
c.3722C>G (p.Pro1241Arg)
c.3608C>G (p.Pro1203Arg)
c.3170C>G (p.Pro1057Arg)
n.4438C>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.47000361C>TCA352517232NBEAL2c.4262C>T (p.Pro1421Leu)
c.4160C>T (p.Pro1387Leu)
c.2125C>T
c.734C>T (p.Pro245Leu)
c.4181C>T (p.Pro1394Leu)
c.4241C>T (p.Pro1414Leu)
c.3893C>T (p.Pro1298Leu)
c.3722C>T (p.Pro1241Leu)
c.3608C>T (p.Pro1203Leu)
c.3170C>T (p.Pro1057Leu)
n.4438C>T
3g.47000364_47000366delCA543042236NBEAL2c.4265_4267del (p.Thr1422del)
c.4163_4165del (p.Thr1388del)
c.2128_2130del
c.737_739del (p.Thr246del)
c.4184_4186del (p.Thr1395del)
c.4244_4246del (p.Thr1415del)
c.3896_3898del (p.Thr1299del)
c.3725_3727del (p.Thr1242del)
c.3611_3613del (p.Thr1204del)
c.3173_3175del (p.Thr1058del)
n.4441_4443del
 dbSNP gnomAD v2 gnomAD v4
3g.47000362C>ACA433598429NBEAL2c.4263C>A (p.Pro1421=)
c.4161C>A (p.Pro1387=)
c.2126C>A
c.735C>A (p.Pro245=)
c.4182C>A (p.Pro1394=)
c.4242C>A (p.Pro1414=)
c.3894C>A (p.Pro1298=)
c.3723C>A (p.Pro1241=)
c.3609C>A (p.Pro1203=)
c.3171C>A (p.Pro1057=)
n.4439C>A
3g.47000362C>GCA433598430NBEAL2c.4263C>G (p.Pro1421=)
c.4161C>G (p.Pro1387=)
c.2126C>G
c.735C>G (p.Pro245=)
c.4182C>G (p.Pro1394=)
c.4242C>G (p.Pro1414=)
c.3894C>G (p.Pro1298=)
c.3723C>G (p.Pro1241=)
c.3609C>G (p.Pro1203=)
c.3171C>G (p.Pro1057=)
n.4439C>G
3g.47000362C>TCA433598433NBEAL2c.4263C>T (p.Pro1421=)
c.4161C>T (p.Pro1387=)
c.2126C>T
c.735C>T (p.Pro245=)
c.4182C>T (p.Pro1394=)
c.4242C>T (p.Pro1414=)
c.3894C>T (p.Pro1298=)
c.3723C>T (p.Pro1241=)
c.3609C>T (p.Pro1203=)
c.3171C>T (p.Pro1057=)
n.4439C>T
 gnomAD v4
3g.47000363A=CA1362363152NBEAL2c.4264A= (p.Thr1422=)
c.4162A= (p.Thr1388=)
c.2127A=
c.736A= (p.Thr246=)
c.4183A= (p.Thr1395=)
c.4243A= (p.Thr1415=)
c.3895A= (p.Thr1299=)
c.3724A= (p.Thr1242=)
c.3610A= (p.Thr1204=)
c.3172A= (p.Thr1058=)
n.4440A=
3g.47000363A>CCA352517233NBEAL2c.4264A>C (p.Thr1422Pro)
c.4162A>C (p.Thr1388Pro)
c.2127A>C
c.736A>C (p.Thr246Pro)
c.4183A>C (p.Thr1395Pro)
c.4243A>C (p.Thr1415Pro)
c.3895A>C (p.Thr1299Pro)
c.3724A>C (p.Thr1242Pro)
c.3610A>C (p.Thr1204Pro)
c.3172A>C (p.Thr1058Pro)
n.4440A>C
3g.47000363A>GCA73818016NBEAL2c.4264A>G (p.Thr1422Ala)
c.4162A>G (p.Thr1388Ala)
c.2127A>G
c.736A>G (p.Thr246Ala)
c.4183A>G (p.Thr1395Ala)
c.4243A>G (p.Thr1415Ala)
c.3895A>G (p.Thr1299Ala)
c.3724A>G (p.Thr1242Ala)
c.3610A>G (p.Thr1204Ala)
c.3172A>G (p.Thr1058Ala)
n.4440A>G
 dbSNP gnomAD v2 gnomAD v4
3g.47000363A>TCA352517234NBEAL2c.4264A>T (p.Thr1422Ser)
c.4162A>T (p.Thr1388Ser)
c.2127A>T
c.736A>T (p.Thr246Ser)
c.4183A>T (p.Thr1395Ser)
c.4243A>T (p.Thr1415Ser)
c.3895A>T (p.Thr1299Ser)
c.3724A>T (p.Thr1242Ser)
c.3610A>T (p.Thr1204Ser)
c.3172A>T (p.Thr1058Ser)
n.4440A>T
3g.47000364C>ACA352517235NBEAL2c.4265C>A (p.Thr1422Asn)
c.4163C>A (p.Thr1388Asn)
c.2128C>A
c.737C>A (p.Thr246Asn)
c.4184C>A (p.Thr1395Asn)
c.4244C>A (p.Thr1415Asn)
c.3896C>A (p.Thr1299Asn)
c.3725C>A (p.Thr1242Asn)
c.3611C>A (p.Thr1204Asn)
c.3173C>A (p.Thr1058Asn)
n.4441C>A
 gnomAD v4
3g.47000364C>GCA352517236NBEAL2c.4265C>G (p.Thr1422Ser)
c.4163C>G (p.Thr1388Ser)
c.2128C>G
c.737C>G (p.Thr246Ser)
c.4184C>G (p.Thr1395Ser)
c.4244C>G (p.Thr1415Ser)
c.3896C>G (p.Thr1299Ser)
c.3725C>G (p.Thr1242Ser)
c.3611C>G (p.Thr1204Ser)
c.3173C>G (p.Thr1058Ser)
n.4441C>G
3g.47000364C>TCA352517237NBEAL2c.4265C>T (p.Thr1422Ile)
c.4163C>T (p.Thr1388Ile)
c.2128C>T
c.737C>T (p.Thr246Ile)
c.4184C>T (p.Thr1395Ile)
c.4244C>T (p.Thr1415Ile)
c.3896C>T (p.Thr1299Ile)
c.3725C>T (p.Thr1242Ile)
c.3611C>T (p.Thr1204Ile)
c.3173C>T (p.Thr1058Ile)
n.4441C>T
3g.47000365C>ACA433598437NBEAL2c.4266C>A (p.Thr1422=)
c.4164C>A (p.Thr1388=)
c.2129C>A
c.738C>A (p.Thr246=)
c.4185C>A (p.Thr1395=)
c.4245C>A (p.Thr1415=)
c.3897C>A (p.Thr1299=)
c.3726C>A (p.Thr1242=)
c.3612C>A (p.Thr1204=)
c.3174C>A (p.Thr1058=)
n.4442C>A
3g.47000365C>GCA433598435NBEAL2c.4266C>G (p.Thr1422=)
c.4164C>G (p.Thr1388=)
c.2129C>G
c.738C>G (p.Thr246=)
c.4185C>G (p.Thr1395=)
c.4245C>G (p.Thr1415=)
c.3897C>G (p.Thr1299=)
c.3726C>G (p.Thr1242=)
c.3612C>G (p.Thr1204=)
c.3174C>G (p.Thr1058=)
n.4442C>G
3g.47000365C>TCA433598438NBEAL2c.4266C>T (p.Thr1422=)
c.4164C>T (p.Thr1388=)
c.2129C>T
c.738C>T (p.Thr246=)
c.4185C>T (p.Thr1395=)
c.4245C>T (p.Thr1415=)
c.3897C>T (p.Thr1299=)
c.3726C>T (p.Thr1242=)
c.3612C>T (p.Thr1204=)
c.3174C>T (p.Thr1058=)
n.4442C>T
3g.47000366A=CA1362363153NBEAL2c.4267A= (p.Ile1423=)
c.4165A= (p.Ile1389=)
c.2130A=
c.739A= (p.Ile247=)
c.4186A= (p.Ile1396=)
c.4246A= (p.Ile1416=)
c.3898A= (p.Ile1300=)
c.3727A= (p.Ile1243=)
c.3613A= (p.Ile1205=)
c.3175A= (p.Ile1059=)
n.4443A=
3g.47000366A>CCA352517238NBEAL2c.4267A>C (p.Ile1423Leu)
c.4165A>C (p.Ile1389Leu)
c.2130A>C
c.739A>C (p.Ile247Leu)
c.4186A>C (p.Ile1396Leu)
c.4246A>C (p.Ile1416Leu)
c.3898A>C (p.Ile1300Leu)
c.3727A>C (p.Ile1243Leu)
c.3613A>C (p.Ile1205Leu)
c.3175A>C (p.Ile1059Leu)
n.4443A>C
3g.47000366A>GCA2361190NBEAL2c.4267A>G (p.Ile1423Val)
c.4165A>G (p.Ile1389Val)
c.2130A>G
c.739A>G (p.Ile247Val)
c.4186A>G (p.Ile1396Val)
c.4246A>G (p.Ile1416Val)
c.3898A>G (p.Ile1300Val)
c.3727A>G (p.Ile1243Val)
c.3613A>G (p.Ile1205Val)
c.3175A>G (p.Ile1059Val)
n.4443A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.47000366A>TCA352517239NBEAL2c.4267A>T (p.Ile1423Phe)
c.4165A>T (p.Ile1389Phe)
c.2130A>T
c.739A>T (p.Ile247Phe)
c.4186A>T (p.Ile1396Phe)
c.4246A>T (p.Ile1416Phe)
c.3898A>T (p.Ile1300Phe)
c.3727A>T (p.Ile1243Phe)
c.3613A>T (p.Ile1205Phe)
c.3175A>T (p.Ile1059Phe)
n.4443A>T
3g.47000367T>ACA352517240NBEAL2c.4268T>A (p.Ile1423Asn)
c.4166T>A (p.Ile1389Asn)
c.2131T>A
c.740T>A (p.Ile247Asn)
c.4187T>A (p.Ile1396Asn)
c.4247T>A (p.Ile1416Asn)
c.3899T>A (p.Ile1300Asn)
c.3728T>A (p.Ile1243Asn)
c.3614T>A (p.Ile1205Asn)
c.3176T>A (p.Ile1059Asn)
n.4444T>A
3g.47000367T>CCA352517241NBEAL2c.4268T>C (p.Ile1423Thr)
c.4166T>C (p.Ile1389Thr)
c.2131T>C
c.740T>C (p.Ile247Thr)
c.4187T>C (p.Ile1396Thr)
c.4247T>C (p.Ile1416Thr)
c.3899T>C (p.Ile1300Thr)
c.3728T>C (p.Ile1243Thr)
c.3614T>C (p.Ile1205Thr)
c.3176T>C (p.Ile1059Thr)
n.4444T>C
3g.47000367T>GCA352517243NBEAL2c.4268T>G (p.Ile1423Ser)
c.4166T>G (p.Ile1389Ser)
c.2131T>G
c.740T>G (p.Ile247Ser)
c.4187T>G (p.Ile1396Ser)
c.4247T>G (p.Ile1416Ser)
c.3899T>G (p.Ile1300Ser)
c.3728T>G (p.Ile1243Ser)
c.3614T>G (p.Ile1205Ser)
c.3176T>G (p.Ile1059Ser)
n.4444T>G
3g.47000368T>ACA433598439NBEAL2c.4269T>A (p.Ile1423=)
c.4167T>A (p.Ile1389=)
c.2132T>A
c.741T>A (p.Ile247=)
c.4188T>A (p.Ile1396=)
c.4248T>A (p.Ile1416=)
c.3900T>A (p.Ile1300=)
c.3729T>A (p.Ile1243=)
c.3615T>A (p.Ile1205=)
c.3177T>A (p.Ile1059=)
n.4445T>A
3g.47000368T>CCA2361191NBEAL2c.4269T>C (p.Ile1423=)
c.4167T>C (p.Ile1389=)
c.2132T>C
c.741T>C (p.Ile247=)
c.4188T>C (p.Ile1396=)
c.4248T>C (p.Ile1416=)
c.3900T>C (p.Ile1300=)
c.3729T>C (p.Ile1243=)
c.3615T>C (p.Ile1205=)
c.3177T>C (p.Ile1059=)
n.4445T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.47000368T>GCA352517246NBEAL2c.4269T>G (p.Ile1423Met)
c.4167T>G (p.Ile1389Met)
c.2132T>G
c.741T>G (p.Ile247Met)
c.4188T>G (p.Ile1396Met)
c.4248T>G (p.Ile1416Met)
c.3900T>G (p.Ile1300Met)
c.3729T>G (p.Ile1243Met)
c.3615T>G (p.Ile1205Met)
c.3177T>G (p.Ile1059Met)
n.4445T>G
 gnomAD v4
3g.47000368T=CA1362363154NBEAL2c.4269T= (p.Ile1423=)
c.4167T= (p.Ile1389=)
c.2132T=
c.741T= (p.Ile247=)
c.4188T= (p.Ile1396=)
c.4248T= (p.Ile1416=)
c.3900T= (p.Ile1300=)
c.3729T= (p.Ile1243=)
c.3615T= (p.Ile1205=)
c.3177T= (p.Ile1059=)
n.4445T=
3g.47000369A>CCA352517249NBEAL2c.4270A>C (p.Ser1424Arg)
c.4168A>C (p.Ser1390Arg)
c.2133A>C
c.742A>C (p.Ser248Arg)
c.4189A>C (p.Ser1397Arg)
c.4249A>C (p.Ser1417Arg)
c.3901A>C (p.Ser1301Arg)
c.3730A>C (p.Ser1244Arg)
c.3616A>C (p.Ser1206Arg)
c.3178A>C (p.Ser1060Arg)
n.4446A>C
3g.47000369A>GCA352517251NBEAL2c.4270A>G (p.Ser1424Gly)
c.4168A>G (p.Ser1390Gly)
c.2133A>G
c.742A>G (p.Ser248Gly)
c.4189A>G (p.Ser1397Gly)
c.4249A>G (p.Ser1417Gly)
c.3901A>G (p.Ser1301Gly)
c.3730A>G (p.Ser1244Gly)
c.3616A>G (p.Ser1206Gly)
c.3178A>G (p.Ser1060Gly)
n.4446A>G
3g.47000369A>TCA352517253NBEAL2c.4270A>T (p.Ser1424Cys)
c.4168A>T (p.Ser1390Cys)
c.2133A>T
c.742A>T (p.Ser248Cys)
c.4189A>T (p.Ser1397Cys)
c.4249A>T (p.Ser1417Cys)
c.3901A>T (p.Ser1301Cys)
c.3730A>T (p.Ser1244Cys)
c.3616A>T (p.Ser1206Cys)
c.3178A>T (p.Ser1060Cys)
n.4446A>T

Number of alleles fetched