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.47000175G>ACA352516866NBEAL2c.4076G>A (p.Gly1359Asp)
c.3974G>A (p.Gly1325Asp)
n.413G>A
c.1960-21G>A
c.548G>A (p.Gly183Asp)
c.3995G>A (p.Gly1332Asp)
c.4055G>A (p.Gly1352Asp)
c.3707G>A (p.Gly1236Asp)
c.3536G>A (p.Gly1179Asp)
c.3422G>A (p.Gly1141Asp)
c.2984G>A (p.Gly995Asp)
n.4252G>A
 gnomAD v4
3g.47000175G>CCA352516867NBEAL2c.4076G>C (p.Gly1359Ala)
c.3974G>C (p.Gly1325Ala)
n.413G>C
c.1960-21G>C
c.548G>C (p.Gly183Ala)
c.3995G>C (p.Gly1332Ala)
c.4055G>C (p.Gly1352Ala)
c.3707G>C (p.Gly1236Ala)
c.3536G>C (p.Gly1179Ala)
c.3422G>C (p.Gly1141Ala)
c.2984G>C (p.Gly995Ala)
n.4252G>C
3g.47000175G>TCA352516868NBEAL2c.4076G>T (p.Gly1359Val)
c.3974G>T (p.Gly1325Val)
n.413G>T
c.1960-21G>T
c.548G>T (p.Gly183Val)
c.3995G>T (p.Gly1332Val)
c.4055G>T (p.Gly1352Val)
c.3707G>T (p.Gly1236Val)
c.3536G>T (p.Gly1179Val)
c.3422G>T (p.Gly1141Val)
c.2984G>T (p.Gly995Val)
n.4252G>T
 gnomAD v4
3g.47000176C>ACA433598412NBEAL2c.4077C>A (p.Gly1359=)
c.3975C>A (p.Gly1325=)
n.414C>A
c.1960-20C>A
c.549C>A (p.Gly183=)
c.3996C>A (p.Gly1332=)
c.4056C>A (p.Gly1352=)
c.3708C>A (p.Gly1236=)
c.3537C>A (p.Gly1179=)
c.3423C>A (p.Gly1141=)
c.2985C>A (p.Gly995=)
n.4253C>A
3g.47000176C>GCA433598413NBEAL2c.4077C>G (p.Gly1359=)
c.3975C>G (p.Gly1325=)
n.414C>G
c.1960-20C>G
c.549C>G (p.Gly183=)
c.3996C>G (p.Gly1332=)
c.4056C>G (p.Gly1352=)
c.3708C>G (p.Gly1236=)
c.3537C>G (p.Gly1179=)
c.3423C>G (p.Gly1141=)
c.2985C>G (p.Gly995=)
n.4253C>G
3g.47000176C>TCA433598414NBEAL2c.4077C>T (p.Gly1359=)
c.3975C>T (p.Gly1325=)
n.414C>T
c.1960-20C>T
c.549C>T (p.Gly183=)
c.3996C>T (p.Gly1332=)
c.4056C>T (p.Gly1352=)
c.3708C>T (p.Gly1236=)
c.3537C>T (p.Gly1179=)
c.3423C>T (p.Gly1141=)
c.2985C>T (p.Gly995=)
n.4253C>T
 gnomAD v4
3g.47000177C>ACA352516869NBEAL2c.4078C>A (p.Leu1360Met)
c.3976C>A (p.Leu1326Met)
n.415C>A
c.1960-19C>A
c.550C>A (p.Leu184Met)
c.3997C>A (p.Leu1333Met)
c.4057C>A (p.Leu1353Met)
c.3709C>A (p.Leu1237Met)
c.3538C>A (p.Leu1180Met)
c.3424C>A (p.Leu1142Met)
c.2986C>A (p.Leu996Met)
n.4254C>A
3g.47000177C>GCA352516870NBEAL2c.4078C>G (p.Leu1360Val)
c.3976C>G (p.Leu1326Val)
n.415C>G
c.1960-19C>G
c.550C>G (p.Leu184Val)
c.3997C>G (p.Leu1333Val)
c.4057C>G (p.Leu1353Val)
c.3709C>G (p.Leu1237Val)
c.3538C>G (p.Leu1180Val)
c.3424C>G (p.Leu1142Val)
c.2986C>G (p.Leu996Val)
n.4254C>G
3g.47000177C>TCA433598415NBEAL2c.4078C>T (p.Leu1360=)
c.3976C>T (p.Leu1326=)
n.415C>T
c.1960-19C>T
c.550C>T (p.Leu184=)
c.3997C>T (p.Leu1333=)
c.4057C>T (p.Leu1353=)
c.3709C>T (p.Leu1237=)
c.3538C>T (p.Leu1180=)
c.3424C>T (p.Leu1142=)
c.2986C>T (p.Leu996=)
n.4254C>T
3g.47000178T>ACA352516871NBEAL2c.4079T>A (p.Leu1360Gln)
c.3977T>A (p.Leu1326Gln)
n.416T>A
c.1960-18T>A
c.551T>A (p.Leu184Gln)
c.3998T>A (p.Leu1333Gln)
c.4058T>A (p.Leu1353Gln)
c.3710T>A (p.Leu1237Gln)
c.3539T>A (p.Leu1180Gln)
c.3425T>A (p.Leu1142Gln)
c.2987T>A (p.Leu996Gln)
n.4255T>A
3g.47000178T>CCA352516873NBEAL2c.4079T>C (p.Leu1360Pro)
c.3977T>C (p.Leu1326Pro)
n.416T>C
c.1960-18T>C
c.551T>C (p.Leu184Pro)
c.3998T>C (p.Leu1333Pro)
c.4058T>C (p.Leu1353Pro)
c.3710T>C (p.Leu1237Pro)
c.3539T>C (p.Leu1180Pro)
c.3425T>C (p.Leu1142Pro)
c.2987T>C (p.Leu996Pro)
n.4255T>C
3g.47000178T>GCA352516872NBEAL2c.4079T>G (p.Leu1360Arg)
c.3977T>G (p.Leu1326Arg)
n.416T>G
c.1960-18T>G
c.551T>G (p.Leu184Arg)
c.3998T>G (p.Leu1333Arg)
c.4058T>G (p.Leu1353Arg)
c.3710T>G (p.Leu1237Arg)
c.3539T>G (p.Leu1180Arg)
c.3425T>G (p.Leu1142Arg)
c.2987T>G (p.Leu996Arg)
n.4255T>G
3g.47000179G>ACA433598418NBEAL2c.4080G>A (p.Leu1360=)
c.3978G>A (p.Leu1326=)
n.417G>A
c.1960-17G>A
c.552G>A (p.Leu184=)
c.3999G>A (p.Leu1333=)
c.4059G>A (p.Leu1353=)
c.3711G>A (p.Leu1237=)
c.3540G>A (p.Leu1180=)
c.3426G>A (p.Leu1142=)
c.2988G>A (p.Leu996=)
n.4256G>A
3g.47000179G>CCA433598420NBEAL2c.4080G>C (p.Leu1360=)
c.3978G>C (p.Leu1326=)
n.417G>C
c.1960-17G>C
c.552G>C (p.Leu184=)
c.3999G>C (p.Leu1333=)
c.4059G>C (p.Leu1353=)
c.3711G>C (p.Leu1237=)
c.3540G>C (p.Leu1180=)
c.3426G>C (p.Leu1142=)
c.2988G>C (p.Leu996=)
n.4256G>C
3g.47000179G>TCA433598421NBEAL2c.4080G>T (p.Leu1360=)
c.3978G>T (p.Leu1326=)
n.417G>T
c.1960-17G>T
c.552G>T (p.Leu184=)
c.3999G>T (p.Leu1333=)
c.4059G>T (p.Leu1353=)
c.3711G>T (p.Leu1237=)
c.3540G>T (p.Leu1180=)
c.3426G>T (p.Leu1142=)
c.2988G>T (p.Leu996=)
n.4256G>T
3g.47000180G>ACA352516874NBEAL2c.4081G>A (p.Glu1361Lys)
c.3979G>A (p.Glu1327Lys)
n.418G>A
c.1960-16G>A
c.553G>A (p.Glu185Lys)
c.4000G>A (p.Glu1334Lys)
c.4060G>A (p.Glu1354Lys)
c.3712G>A (p.Glu1238Lys)
c.3541G>A (p.Glu1181Lys)
c.3427G>A (p.Glu1143Lys)
c.2989G>A (p.Glu997Lys)
n.4257G>A
3g.47000180G>CCA352516875NBEAL2c.4081G>C (p.Glu1361Gln)
c.3979G>C (p.Glu1327Gln)
n.418G>C
c.1960-16G>C
c.553G>C (p.Glu185Gln)
c.4000G>C (p.Glu1334Gln)
c.4060G>C (p.Glu1354Gln)
c.3712G>C (p.Glu1238Gln)
c.3541G>C (p.Glu1181Gln)
c.3427G>C (p.Glu1143Gln)
c.2989G>C (p.Glu997Gln)
n.4257G>C
3g.47000180G=CA1362363054NBEAL2c.4081G= (p.Glu1361=)
c.3979G= (p.Glu1327=)
n.418G=
c.1960-16G=
c.553G= (p.Glu185=)
c.4000G= (p.Glu1334=)
c.4060G= (p.Glu1354=)
c.3712G= (p.Glu1238=)
c.3541G= (p.Glu1181=)
c.3427G= (p.Glu1143=)
c.2989G= (p.Glu997=)
n.4257G=
3g.47000180G>TCA352516876NBEAL2c.4081G>T (p.Glu1361Ter)
c.3979G>T (p.Glu1327Ter)
n.418G>T
c.1960-16G>T
c.553G>T (p.Glu185Ter)
c.4000G>T (p.Glu1334Ter)
c.4060G>T (p.Glu1354Ter)
c.3712G>T (p.Glu1238Ter)
c.3541G>T (p.Glu1181Ter)
c.3427G>T (p.Glu1143Ter)
c.2989G>T (p.Glu997Ter)
n.4257G>T
 ClinVar dbSNP gnomAD v4
3g.47000181A=CA1362363055NBEAL2c.4082A= (p.Glu1361=)
c.3980A= (p.Glu1327=)
n.419A=
c.1960-15A=
c.554A= (p.Glu185=)
c.4001A= (p.Glu1334=)
c.4061A= (p.Glu1354=)
c.3713A= (p.Glu1238=)
c.3542A= (p.Glu1181=)
c.3428A= (p.Glu1143=)
c.2990A= (p.Glu997=)
n.4258A=
3g.47000181A>CCA352516877NBEAL2c.4082A>C (p.Glu1361Ala)
c.3980A>C (p.Glu1327Ala)
n.419A>C
c.1960-15A>C
c.554A>C (p.Glu185Ala)
c.4001A>C (p.Glu1334Ala)
c.4061A>C (p.Glu1354Ala)
c.3713A>C (p.Glu1238Ala)
c.3542A>C (p.Glu1181Ala)
c.3428A>C (p.Glu1143Ala)
c.2990A>C (p.Glu997Ala)
n.4258A>C
3g.47000181A>GCA352516878NBEAL2c.4082A>G (p.Glu1361Gly)
c.3980A>G (p.Glu1327Gly)
n.419A>G
c.1960-15A>G
c.554A>G (p.Glu185Gly)
c.4001A>G (p.Glu1334Gly)
c.4061A>G (p.Glu1354Gly)
c.3713A>G (p.Glu1238Gly)
c.3542A>G (p.Glu1181Gly)
c.3428A>G (p.Glu1143Gly)
c.2990A>G (p.Glu997Gly)
n.4258A>G
3g.47000181A>TCA352516879NBEAL2c.4082A>T (p.Glu1361Val)
c.3980A>T (p.Glu1327Val)
n.419A>T
c.1960-15A>T
c.554A>T (p.Glu185Val)
c.4001A>T (p.Glu1334Val)
c.4061A>T (p.Glu1354Val)
c.3713A>T (p.Glu1238Val)
c.3542A>T (p.Glu1181Val)
c.3428A>T (p.Glu1143Val)
c.2990A>T (p.Glu997Val)
n.4258A>T
 dbSNP
3g.47000182A>CCA352516880NBEAL2c.4083A>C (p.Glu1361Asp)
c.3981A>C (p.Glu1327Asp)
n.420A>C
c.1960-14A>C
c.555A>C (p.Glu185Asp)
c.4002A>C (p.Glu1334Asp)
c.4062A>C (p.Glu1354Asp)
c.3714A>C (p.Glu1238Asp)
c.3543A>C (p.Glu1181Asp)
c.3429A>C (p.Glu1143Asp)
c.2991A>C (p.Glu997Asp)
n.4259A>C
3g.47000182A>GCA433598422NBEAL2c.4083A>G (p.Glu1361=)
c.3981A>G (p.Glu1327=)
n.420A>G
c.1960-14A>G
c.555A>G (p.Glu185=)
c.4002A>G (p.Glu1334=)
c.4062A>G (p.Glu1354=)
c.3714A>G (p.Glu1238=)
c.3543A>G (p.Glu1181=)
c.3429A>G (p.Glu1143=)
c.2991A>G (p.Glu997=)
n.4259A>G
3g.47000182A>TCA352516881NBEAL2c.4083A>T (p.Glu1361Asp)
c.3981A>T (p.Glu1327Asp)
n.420A>T
c.1960-14A>T
c.555A>T (p.Glu185Asp)
c.4002A>T (p.Glu1334Asp)
c.4062A>T (p.Glu1354Asp)
c.3714A>T (p.Glu1238Asp)
c.3543A>T (p.Glu1181Asp)
c.3429A>T (p.Glu1143Asp)
c.2991A>T (p.Glu997Asp)
n.4259A>T
 gnomAD v4
3g.47000182_47000183delinsACCA1362363056NBEAL2c.4083_4084delinsAC (p.Glu1361=)
c.3981_3982delinsAC (p.Glu1327=)
n.420_421delinsAC
c.1960-14_1960-13delinsAC
c.555_556delinsAC (p.Glu185=)
c.4002_4003delinsAC (p.Glu1334=)
c.4062_4063delinsAC (p.Glu1354=)
c.3714_3715delinsAC (p.Glu1238=)
c.3543_3544delinsAC (p.Glu1181=)
c.3429_3430delinsAC (p.Glu1143=)
c.2991_2992delinsAC (p.Glu997=)
n.4259_4260delinsAC
3g.47000183delCA543042211NBEAL2c.4084del (p.Arg1362GlyfsTer4)
c.3982del (p.Arg1328GlyfsTer4)
n.421del
c.1960-13del
c.556del (p.Arg186GlyfsTer4)
c.4003del (p.Arg1335GlyfsTer4)
c.4063del (p.Arg1355GlyfsTer4)
c.3715del (p.Arg1239GlyfsTer4)
c.3544del (p.Arg1182GlyfsTer4)
c.3430del (p.Arg1144GlyfsTer4)
c.2992del (p.Arg998GlyfsTer4)
n.4260del
 dbSNP gnomAD v2
3g.47000183C>ACA433598425NBEAL2c.4084C>A (p.Arg1362=)
c.3982C>A (p.Arg1328=)
n.421C>A
c.1960-13C>A
c.556C>A (p.Arg186=)
c.4003C>A (p.Arg1335=)
c.4063C>A (p.Arg1355=)
c.3715C>A (p.Arg1239=)
c.3544C>A (p.Arg1182=)
c.3430C>A (p.Arg1144=)
c.2992C>A (p.Arg998=)
n.4260C>A
3g.47000183C=CA1362363057NBEAL2c.4084C= (p.Arg1362=)
c.3982C= (p.Arg1328=)
n.421C=
c.1960-13C=
c.556C= (p.Arg186=)
c.4003C= (p.Arg1335=)
c.4063C= (p.Arg1355=)
c.3715C= (p.Arg1239=)
c.3544C= (p.Arg1182=)
c.3430C= (p.Arg1144=)
c.2992C= (p.Arg998=)
n.4260C=
3g.47000183C>GCA352516882NBEAL2c.4084C>G (p.Arg1362Gly)
c.3982C>G (p.Arg1328Gly)
n.421C>G
c.1960-13C>G
c.556C>G (p.Arg186Gly)
c.4003C>G (p.Arg1335Gly)
c.4063C>G (p.Arg1355Gly)
c.3715C>G (p.Arg1239Gly)
c.3544C>G (p.Arg1182Gly)
c.3430C>G (p.Arg1144Gly)
c.2992C>G (p.Arg998Gly)
n.4260C>G
3g.47000183C>TCA2361139NBEAL2c.4084C>T (p.Arg1362Trp)
c.3982C>T (p.Arg1328Trp)
n.421C>T
c.1960-13C>T
c.556C>T (p.Arg186Trp)
c.4003C>T (p.Arg1335Trp)
c.4063C>T (p.Arg1355Trp)
c.3715C>T (p.Arg1239Trp)
c.3544C>T (p.Arg1182Trp)
c.3430C>T (p.Arg1144Trp)
c.2992C>T (p.Arg998Trp)
n.4260C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.47000184G>ACA2361140NBEAL2c.4085G>A (p.Arg1362Gln)
c.3983G>A (p.Arg1328Gln)
n.422G>A
c.1960-12G>A
c.557G>A (p.Arg186Gln)
c.4004G>A (p.Arg1335Gln)
c.4064G>A (p.Arg1355Gln)
c.3716G>A (p.Arg1239Gln)
c.3545G>A (p.Arg1182Gln)
c.3431G>A (p.Arg1144Gln)
c.2993G>A (p.Arg998Gln)
n.4261G>A
 ClinVar dbSNP ExAC gnomAD v3 gnomAD v4
3g.47000184G>CCA352516883NBEAL2c.4085G>C (p.Arg1362Pro)
c.3983G>C (p.Arg1328Pro)
n.422G>C
c.1960-12G>C
c.557G>C (p.Arg186Pro)
c.4004G>C (p.Arg1335Pro)
c.4064G>C (p.Arg1355Pro)
c.3716G>C (p.Arg1239Pro)
c.3545G>C (p.Arg1182Pro)
c.3431G>C (p.Arg1144Pro)
c.2993G>C (p.Arg998Pro)
n.4261G>C
3g.47000184G=CA1362363058NBEAL2c.4085G= (p.Arg1362=)
c.3983G= (p.Arg1328=)
n.422G=
c.1960-12G=
c.557G= (p.Arg186=)
c.4004G= (p.Arg1335=)
c.4064G= (p.Arg1355=)
c.3716G= (p.Arg1239=)
c.3545G= (p.Arg1182=)
c.3431G= (p.Arg1144=)
c.2993G= (p.Arg998=)
n.4261G=
3g.47000184G>TCA352516884NBEAL2c.4085G>T (p.Arg1362Leu)
c.3983G>T (p.Arg1328Leu)
n.422G>T
c.1960-12G>T
c.557G>T (p.Arg186Leu)
c.4004G>T (p.Arg1335Leu)
c.4064G>T (p.Arg1355Leu)
c.3716G>T (p.Arg1239Leu)
c.3545G>T (p.Arg1182Leu)
c.3431G>T (p.Arg1144Leu)
c.2993G>T (p.Arg998Leu)
n.4261G>T
 gnomAD v4
3g.47000184_47000188delCA2665493244NBEAL2c.4085_4089del (p.Arg1362GlnfsTer?)
c.3983_3987del (p.Arg1328GlnfsTer?)
n.422_426del
c.1960-12_1960-8del
c.557_561del (p.Arg186GlnfsTer?)
c.4004_4008del (p.Arg1335GlnfsTer?)
c.4064_4068del (p.Arg1355GlnfsTer?)
c.3716_3720del (p.Arg1239GlnfsTer?)
c.3545_3549del (p.Arg1182GlnfsTer?)
c.3431_3435del (p.Arg1144GlnfsTer?)
c.2993_2997del (p.Arg998GlnfsTer?)
n.4261_4265del
 gnomAD v4
3g.47000185G>ACA2361141NBEAL2c.4086G>A (p.Arg1362=)
c.3984G>A (p.Arg1328=)
n.423G>A
c.1960-11G>A
c.558G>A (p.Arg186=)
c.4005G>A (p.Arg1335=)
c.4065G>A (p.Arg1355=)
c.3717G>A (p.Arg1239=)
c.3546G>A (p.Arg1182=)
c.3432G>A (p.Arg1144=)
c.2994G>A (p.Arg998=)
n.4262G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.47000185G>CCA433598427NBEAL2c.4086G>C (p.Arg1362=)
c.3984G>C (p.Arg1328=)
n.423G>C
c.1960-11G>C
c.558G>C (p.Arg186=)
c.4005G>C (p.Arg1335=)
c.4065G>C (p.Arg1355=)
c.3717G>C (p.Arg1239=)
c.3546G>C (p.Arg1182=)
c.3432G>C (p.Arg1144=)
c.2994G>C (p.Arg998=)
n.4262G>C
3g.47000185G=CA1362363059NBEAL2c.4086G= (p.Arg1362=)
c.3984G= (p.Arg1328=)
n.423G=
c.1960-11G=
c.558G= (p.Arg186=)
c.4005G= (p.Arg1335=)
c.4065G= (p.Arg1355=)
c.3717G= (p.Arg1239=)
c.3546G= (p.Arg1182=)
c.3432G= (p.Arg1144=)
c.2994G= (p.Arg998=)
n.4262G=
3g.47000185G>TCA433598428NBEAL2c.4086G>T (p.Arg1362=)
c.3984G>T (p.Arg1328=)
n.423G>T
c.1960-11G>T
c.558G>T (p.Arg186=)
c.4005G>T (p.Arg1335=)
c.4065G>T (p.Arg1355=)
c.3717G>T (p.Arg1239=)
c.3546G>T (p.Arg1182=)
c.3432G>T (p.Arg1144=)
c.2994G>T (p.Arg998=)
n.4262G>T
3g.47000186T>ACA352516885NBEAL2c.4087T>A (p.Ser1363Thr)
c.3985T>A (p.Ser1329Thr)
n.424T>A
c.1960-10T>A
c.559T>A (p.Ser187Thr)
c.4006T>A (p.Ser1336Thr)
c.4066T>A (p.Ser1356Thr)
c.3718T>A (p.Ser1240Thr)
c.3547T>A (p.Ser1183Thr)
c.3433T>A (p.Ser1145Thr)
c.2995T>A (p.Ser999Thr)
n.4263T>A
3g.47000186T>CCA352516886NBEAL2c.4087T>C (p.Ser1363Pro)
c.3985T>C (p.Ser1329Pro)
n.424T>C
c.1960-10T>C
c.559T>C (p.Ser187Pro)
c.4006T>C (p.Ser1336Pro)
c.4066T>C (p.Ser1356Pro)
c.3718T>C (p.Ser1240Pro)
c.3547T>C (p.Ser1183Pro)
c.3433T>C (p.Ser1145Pro)
c.2995T>C (p.Ser999Pro)
n.4263T>C
3g.47000186T>GCA352516887NBEAL2c.4087T>G (p.Ser1363Ala)
c.3985T>G (p.Ser1329Ala)
n.424T>G
c.1960-10T>G
c.559T>G (p.Ser187Ala)
c.4006T>G (p.Ser1336Ala)
c.4066T>G (p.Ser1356Ala)
c.3718T>G (p.Ser1240Ala)
c.3547T>G (p.Ser1183Ala)
c.3433T>G (p.Ser1145Ala)
c.2995T>G (p.Ser999Ala)
n.4263T>G
3g.47000187C>ACA352516888NBEAL2c.4088C>A (p.Ser1363Tyr)
c.3986C>A (p.Ser1329Tyr)
n.425C>A
c.1960-9C>A
c.560C>A (p.Ser187Tyr)
c.4007C>A (p.Ser1336Tyr)
c.4067C>A (p.Ser1356Tyr)
c.3719C>A (p.Ser1240Tyr)
c.3548C>A (p.Ser1183Tyr)
c.3434C>A (p.Ser1145Tyr)
c.2996C>A (p.Ser999Tyr)
n.4264C>A
3g.47000187C=CA1362363060NBEAL2c.4088C= (p.Ser1363=)
c.3986C= (p.Ser1329=)
n.425C=
c.1960-9C=
c.560C= (p.Ser187=)
c.4007C= (p.Ser1336=)
c.4067C= (p.Ser1356=)
c.3719C= (p.Ser1240=)
c.3548C= (p.Ser1183=)
c.3434C= (p.Ser1145=)
c.2996C= (p.Ser999=)
n.4264C=
3g.47000187C>GCA352516889NBEAL2c.4088C>G (p.Ser1363Cys)
c.3986C>G (p.Ser1329Cys)
n.425C>G
c.1960-9C>G
c.560C>G (p.Ser187Cys)
c.4007C>G (p.Ser1336Cys)
c.4067C>G (p.Ser1356Cys)
c.3719C>G (p.Ser1240Cys)
c.3548C>G (p.Ser1183Cys)
c.3434C>G (p.Ser1145Cys)
c.2996C>G (p.Ser999Cys)
n.4264C>G
 dbSNP gnomAD v2 gnomAD v4
3g.47000187C>TCA352516890NBEAL2c.4088C>T (p.Ser1363Phe)
c.3986C>T (p.Ser1329Phe)
n.425C>T
c.1960-9C>T
c.560C>T (p.Ser187Phe)
c.4007C>T (p.Ser1336Phe)
c.4067C>T (p.Ser1356Phe)
c.3719C>T (p.Ser1240Phe)
c.3548C>T (p.Ser1183Phe)
c.3434C>T (p.Ser1145Phe)
c.2996C>T (p.Ser999Phe)
n.4264C>T
3g.47000188T>ACA433598434NBEAL2c.4089T>A (p.Ser1363=)
c.3987T>A (p.Ser1329=)
n.426T>A
c.1960-8T>A
c.561T>A (p.Ser187=)
c.4008T>A (p.Ser1336=)
c.4068T>A (p.Ser1356=)
c.3720T>A (p.Ser1240=)
c.3549T>A (p.Ser1183=)
c.3435T>A (p.Ser1145=)
c.2997T>A (p.Ser999=)
n.4265T>A
3g.47000188T>CCA433598431NBEAL2c.4089T>C (p.Ser1363=)
c.3987T>C (p.Ser1329=)
n.426T>C
c.1960-8T>C
c.561T>C (p.Ser187=)
c.4008T>C (p.Ser1336=)
c.4068T>C (p.Ser1356=)
c.3720T>C (p.Ser1240=)
c.3549T>C (p.Ser1183=)
c.3435T>C (p.Ser1145=)
c.2997T>C (p.Ser999=)
n.4265T>C
3g.47000188T>GCA433598432NBEAL2c.4089T>G (p.Ser1363=)
c.3987T>G (p.Ser1329=)
n.426T>G
c.1960-8T>G
c.561T>G (p.Ser187=)
c.4008T>G (p.Ser1336=)
c.4068T>G (p.Ser1356=)
c.3720T>G (p.Ser1240=)
c.3549T>G (p.Ser1183=)
c.3435T>G (p.Ser1145=)
c.2997T>G (p.Ser999=)
n.4265T>G
3g.47000189A>CCA352516891NBEAL2c.4090A>C (p.Ser1364Arg)
c.3988A>C (p.Ser1330Arg)
n.427A>C
c.1960-7A>C
c.562A>C (p.Ser188Arg)
c.4009A>C (p.Ser1337Arg)
c.4069A>C (p.Ser1357Arg)
c.3721A>C (p.Ser1241Arg)
c.3550A>C (p.Ser1184Arg)
c.3436A>C (p.Ser1146Arg)
c.2998A>C (p.Ser1000Arg)
n.4266A>C
3g.47000189A>GCA352516892NBEAL2c.4090A>G (p.Ser1364Gly)
c.3988A>G (p.Ser1330Gly)
n.427A>G
c.1960-7A>G
c.562A>G (p.Ser188Gly)
c.4009A>G (p.Ser1337Gly)
c.4069A>G (p.Ser1357Gly)
c.3721A>G (p.Ser1241Gly)
c.3550A>G (p.Ser1184Gly)
c.3436A>G (p.Ser1146Gly)
c.2998A>G (p.Ser1000Gly)
n.4266A>G
3g.47000189A>TCA352516893NBEAL2c.4090A>T (p.Ser1364Cys)
c.3988A>T (p.Ser1330Cys)
n.427A>T
c.1960-7A>T
c.562A>T (p.Ser188Cys)
c.4009A>T (p.Ser1337Cys)
c.4069A>T (p.Ser1357Cys)
c.3721A>T (p.Ser1241Cys)
c.3550A>T (p.Ser1184Cys)
c.3436A>T (p.Ser1146Cys)
c.2998A>T (p.Ser1000Cys)
n.4266A>T
3g.47000190G>ACA352516894NBEAL2c.4091G>A (p.Ser1364Asn)
c.3989G>A (p.Ser1330Asn)
n.428G>A
c.1960-6G>A
c.563G>A (p.Ser188Asn)
c.4010G>A (p.Ser1337Asn)
c.4070G>A (p.Ser1357Asn)
c.3722G>A (p.Ser1241Asn)
c.3551G>A (p.Ser1184Asn)
c.3437G>A (p.Ser1146Asn)
c.2999G>A (p.Ser1000Asn)
n.4267G>A
 dbSNP gnomAD v3 gnomAD v4
3g.47000190G>CCA352516895NBEAL2c.4091G>C (p.Ser1364Thr)
c.3989G>C (p.Ser1330Thr)
n.428G>C
c.1960-6G>C
c.563G>C (p.Ser188Thr)
c.4010G>C (p.Ser1337Thr)
c.4070G>C (p.Ser1357Thr)
c.3722G>C (p.Ser1241Thr)
c.3551G>C (p.Ser1184Thr)
c.3437G>C (p.Ser1146Thr)
c.2999G>C (p.Ser1000Thr)
n.4267G>C
3g.47000190G=CA1362363061NBEAL2c.4091G= (p.Ser1364=)
c.3989G= (p.Ser1330=)
n.428G=
c.1960-6G=
c.563G= (p.Ser188=)
c.4010G= (p.Ser1337=)
c.4070G= (p.Ser1357=)
c.3722G= (p.Ser1241=)
c.3551G= (p.Ser1184=)
c.3437G= (p.Ser1146=)
c.2999G= (p.Ser1000=)
n.4267G=
3g.47000190G>TCA352516896NBEAL2c.4091G>T (p.Ser1364Ile)
c.3989G>T (p.Ser1330Ile)
n.428G>T
c.1960-6G>T
c.563G>T (p.Ser188Ile)
c.4010G>T (p.Ser1337Ile)
c.4070G>T (p.Ser1357Ile)
c.3722G>T (p.Ser1241Ile)
c.3551G>T (p.Ser1184Ile)
c.3437G>T (p.Ser1146Ile)
c.2999G>T (p.Ser1000Ile)
n.4267G>T
3g.47000192_47000193delCA2665493245NBEAL2c.4093_4094del (p.Val1365ArgfsTer?)
c.3991_3992del (p.Val1331ArgfsTer?)
n.430_431del
c.1960-4_1960-3del
c.565_566del (p.Val189ArgfsTer?)
c.4012_4013del (p.Val1338ArgfsTer?)
c.4072_4073del (p.Val1358ArgfsTer?)
c.3724_3725del (p.Val1242ArgfsTer?)
c.3553_3554del (p.Val1185ArgfsTer?)
c.3439_3440del (p.Val1147ArgfsTer?)
c.3001_3002del (p.Val1001ArgfsTer?)
n.4269_4270del
 gnomAD v4
3g.47000191T>ACA352516897NBEAL2c.4092T>A (p.Ser1364Arg)
c.3990T>A (p.Ser1330Arg)
n.429T>A
c.1960-5T>A
c.564T>A (p.Ser188Arg)
c.4011T>A (p.Ser1337Arg)
c.4071T>A (p.Ser1357Arg)
c.3723T>A (p.Ser1241Arg)
c.3552T>A (p.Ser1184Arg)
c.3438T>A (p.Ser1146Arg)
c.3000T>A (p.Ser1000Arg)
n.4268T>A
3g.47000191T>CCA433598436NBEAL2c.4092T>C (p.Ser1364=)
c.3990T>C (p.Ser1330=)
n.429T>C
c.1960-5T>C
c.564T>C (p.Ser188=)
c.4011T>C (p.Ser1337=)
c.4071T>C (p.Ser1357=)
c.3723T>C (p.Ser1241=)
c.3552T>C (p.Ser1184=)
c.3438T>C (p.Ser1146=)
c.3000T>C (p.Ser1000=)
n.4268T>C
 gnomAD v4
3g.47000191T>GCA352516898NBEAL2c.4092T>G (p.Ser1364Arg)
c.3990T>G (p.Ser1330Arg)
n.429T>G
c.1960-5T>G
c.564T>G (p.Ser188Arg)
c.4011T>G (p.Ser1337Arg)
c.4071T>G (p.Ser1357Arg)
c.3723T>G (p.Ser1241Arg)
c.3552T>G (p.Ser1184Arg)
c.3438T>G (p.Ser1146Arg)
c.3000T>G (p.Ser1000Arg)
n.4268T>G
3g.47000192G>ACA352516899NBEAL2c.4093G>A (p.Val1365Ile)
c.3991G>A (p.Val1331Ile)
n.430G>A
c.1960-4G>A
c.565G>A (p.Val189Ile)
c.4012G>A (p.Val1338Ile)
c.4072G>A (p.Val1358Ile)
c.3724G>A (p.Val1242Ile)
c.3553G>A (p.Val1185Ile)
c.3439G>A (p.Val1147Ile)
c.3001G>A (p.Val1001Ile)
n.4269G>A
3g.47000192G>CCA352516900NBEAL2c.4093G>C (p.Val1365Leu)
c.3991G>C (p.Val1331Leu)
n.430G>C
c.1960-4G>C
c.565G>C (p.Val189Leu)
c.4012G>C (p.Val1338Leu)
c.4072G>C (p.Val1358Leu)
c.3724G>C (p.Val1242Leu)
c.3553G>C (p.Val1185Leu)
c.3439G>C (p.Val1147Leu)
c.3001G>C (p.Val1001Leu)
n.4269G>C
 COSMIC COSMIC
3g.47000192G>TCA352516901NBEAL2c.4093G>T (p.Val1365Leu)
c.3991G>T (p.Val1331Leu)
n.430G>T
c.1960-4G>T
c.565G>T (p.Val189Leu)
c.4012G>T (p.Val1338Leu)
c.4072G>T (p.Val1358Leu)
c.3724G>T (p.Val1242Leu)
c.3553G>T (p.Val1185Leu)
c.3439G>T (p.Val1147Leu)
c.3001G>T (p.Val1001Leu)
n.4269G>T
3g.47000193T>ACA352516902NBEAL2c.4094T>A (p.Val1365Glu)
c.3992T>A (p.Val1331Glu)
n.431T>A
c.1960-3T>A
c.566T>A (p.Val189Glu)
c.4013T>A (p.Val1338Glu)
c.4073T>A (p.Val1358Glu)
c.3725T>A (p.Val1242Glu)
c.3554T>A (p.Val1185Glu)
c.3440T>A (p.Val1147Glu)
c.3002T>A (p.Val1001Glu)
n.4270T>A
3g.47000193T>CCA352516903NBEAL2c.4094T>C (p.Val1365Ala)
c.3992T>C (p.Val1331Ala)
n.431T>C
c.1960-3T>C
c.566T>C (p.Val189Ala)
c.4013T>C (p.Val1338Ala)
c.4073T>C (p.Val1358Ala)
c.3725T>C (p.Val1242Ala)
c.3554T>C (p.Val1185Ala)
c.3440T>C (p.Val1147Ala)
c.3002T>C (p.Val1001Ala)
n.4270T>C
3g.47000193T>GCA352516904NBEAL2c.4094T>G (p.Val1365Gly)
c.3992T>G (p.Val1331Gly)
n.431T>G
c.1960-3T>G
c.566T>G (p.Val189Gly)
c.4013T>G (p.Val1338Gly)
c.4073T>G (p.Val1358Gly)
c.3725T>G (p.Val1242Gly)
c.3554T>G (p.Val1185Gly)
c.3440T>G (p.Val1147Gly)
c.3002T>G (p.Val1001Gly)
n.4270T>G
3g.47000194A>CCA433598441NBEAL2c.4095A>C (p.Val1365=)
c.3993A>C (p.Val1331=)
n.432A>C
c.1960-2A>C
c.567A>C (p.Val189=)
c.4014A>C (p.Val1338=)
c.4074A>C (p.Val1358=)
c.3726A>C (p.Val1242=)
c.3555A>C (p.Val1185=)
c.3441A>C (p.Val1147=)
c.3003A>C (p.Val1001=)
n.4271A>C
3g.47000194A>GCA433598440NBEAL2c.4095A>G (p.Val1365=)
c.3993A>G (p.Val1331=)
n.432A>G
c.1960-2A>G
c.567A>G (p.Val189=)
c.4014A>G (p.Val1338=)
c.4074A>G (p.Val1358=)
c.3726A>G (p.Val1242=)
c.3555A>G (p.Val1185=)
c.3441A>G (p.Val1147=)
c.3003A>G (p.Val1001=)
n.4271A>G
3g.47000194A>TCA433598442NBEAL2c.4095A>T (p.Val1365=)
c.3993A>T (p.Val1331=)
n.432A>T
c.1960-2A>T
c.567A>T (p.Val189=)
c.4014A>T (p.Val1338=)
c.4074A>T (p.Val1358=)
c.3726A>T (p.Val1242=)
c.3555A>T (p.Val1185=)
c.3441A>T (p.Val1147=)
c.3003A>T (p.Val1001=)
n.4271A>T
3g.47000195G>ACA352516907NBEAL2c.4096G>A (p.Gly1366Arg)
c.3994G>A (p.Gly1332Arg)
n.433G>A
c.1960-1G>A
c.568G>A (p.Gly190Arg)
c.4015G>A (p.Gly1339Arg)
c.4075G>A (p.Gly1359Arg)
c.3727G>A (p.Gly1243Arg)
c.3556G>A (p.Gly1186Arg)
c.3442G>A (p.Gly1148Arg)
c.3004G>A (p.Gly1002Arg)
n.4272G>A
3g.47000195G>CCA352516906NBEAL2c.4096G>C (p.Gly1366Arg)
c.3994G>C (p.Gly1332Arg)
n.433G>C
c.1960-1G>C
c.568G>C (p.Gly190Arg)
c.4015G>C (p.Gly1339Arg)
c.4075G>C (p.Gly1359Arg)
c.3727G>C (p.Gly1243Arg)
c.3556G>C (p.Gly1186Arg)
c.3442G>C (p.Gly1148Arg)
c.3004G>C (p.Gly1002Arg)
n.4272G>C
3g.47000195G>TCA352516905NBEAL2c.4096G>T (p.Gly1366Ter)
c.3994G>T (p.Gly1332Ter)
n.433G>T
c.1960-1G>T
c.568G>T (p.Gly190Ter)
c.4015G>T (p.Gly1339Ter)
c.4075G>T (p.Gly1359Ter)
c.3727G>T (p.Gly1243Ter)
c.3556G>T (p.Gly1186Ter)
c.3442G>T (p.Gly1148Ter)
c.3004G>T (p.Gly1002Ter)
n.4272G>T
3g.47000196G>ACA352516908NBEAL2c.4097G>A (p.Gly1366Glu)
c.3995G>A (p.Gly1332Glu)
n.434G>A
c.1960G>A
c.569G>A (p.Gly190Glu)
c.4016G>A (p.Gly1339Glu)
c.4076G>A (p.Gly1359Glu)
c.3728G>A (p.Gly1243Glu)
c.3557G>A (p.Gly1186Glu)
c.3443G>A (p.Gly1148Glu)
c.3005G>A (p.Gly1002Glu)
n.4273G>A
3g.47000196G>CCA2361142NBEAL2c.4097G>C (p.Gly1366Ala)
c.3995G>C (p.Gly1332Ala)
n.434G>C
c.1960G>C
c.569G>C (p.Gly190Ala)
c.4016G>C (p.Gly1339Ala)
c.4076G>C (p.Gly1359Ala)
c.3728G>C (p.Gly1243Ala)
c.3557G>C (p.Gly1186Ala)
c.3443G>C (p.Gly1148Ala)
c.3005G>C (p.Gly1002Ala)
n.4273G>C
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.47000196G=CA1362363062NBEAL2c.4097G= (p.Gly1366=)
c.3995G= (p.Gly1332=)
n.434G=
c.1960G=
c.569G= (p.Gly190=)
c.4016G= (p.Gly1339=)
c.4076G= (p.Gly1359=)
c.3728G= (p.Gly1243=)
c.3557G= (p.Gly1186=)
c.3443G= (p.Gly1148=)
c.3005G= (p.Gly1002=)
n.4273G=
3g.47000196G>TCA352516909NBEAL2c.4097G>T (p.Gly1366Val)
c.3995G>T (p.Gly1332Val)
n.434G>T
c.1960G>T
c.569G>T (p.Gly190Val)
c.4016G>T (p.Gly1339Val)
c.4076G>T (p.Gly1359Val)
c.3728G>T (p.Gly1243Val)
c.3557G>T (p.Gly1186Val)
c.3443G>T (p.Gly1148Val)
c.3005G>T (p.Gly1002Val)
n.4273G>T
 COSMIC COSMIC
3g.47000197A>CCA433598219NBEAL2c.4098A>C (p.Gly1366=)
c.3996A>C (p.Gly1332=)
n.435A>C
c.1961A>C
c.570A>C (p.Gly190=)
c.4017A>C (p.Gly1339=)
c.4077A>C (p.Gly1359=)
c.3729A>C (p.Gly1243=)
c.3558A>C (p.Gly1186=)
c.3444A>C (p.Gly1148=)
c.3006A>C (p.Gly1002=)
n.4274A>C
3g.47000197A>GCA433598221NBEAL2c.4098A>G (p.Gly1366=)
c.3996A>G (p.Gly1332=)
n.435A>G
c.1961A>G
c.570A>G (p.Gly190=)
c.4017A>G (p.Gly1339=)
c.4077A>G (p.Gly1359=)
c.3729A>G (p.Gly1243=)
c.3558A>G (p.Gly1186=)
c.3444A>G (p.Gly1148=)
c.3006A>G (p.Gly1002=)
n.4274A>G
3g.47000197A>TCA433598223NBEAL2c.4098A>T (p.Gly1366=)
c.3996A>T (p.Gly1332=)
n.435A>T
c.1961A>T
c.570A>T (p.Gly190=)
c.4017A>T (p.Gly1339=)
c.4077A>T (p.Gly1359=)
c.3729A>T (p.Gly1243=)
c.3558A>T (p.Gly1186=)
c.3444A>T (p.Gly1148=)
c.3006A>T (p.Gly1002=)
n.4274A>T
3g.47000198T>ACA352516910NBEAL2c.4099T>A (p.Ser1367Thr)
c.3997T>A (p.Ser1333Thr)
n.436T>A
c.1962T>A
c.571T>A (p.Ser191Thr)
c.4018T>A (p.Ser1340Thr)
c.4078T>A (p.Ser1360Thr)
c.3730T>A (p.Ser1244Thr)
c.3559T>A (p.Ser1187Thr)
c.3445T>A (p.Ser1149Thr)
c.3007T>A (p.Ser1003Thr)
n.4275T>A
3g.47000198T>CCA352516911NBEAL2c.4099T>C (p.Ser1367Pro)
c.3997T>C (p.Ser1333Pro)
n.436T>C
c.1962T>C
c.571T>C (p.Ser191Pro)
c.4018T>C (p.Ser1340Pro)
c.4078T>C (p.Ser1360Pro)
c.3730T>C (p.Ser1244Pro)
c.3559T>C (p.Ser1187Pro)
c.3445T>C (p.Ser1149Pro)
c.3007T>C (p.Ser1003Pro)
n.4275T>C
3g.47000198T>GCA352516912NBEAL2c.4099T>G (p.Ser1367Ala)
c.3997T>G (p.Ser1333Ala)
n.436T>G
c.1962T>G
c.571T>G (p.Ser191Ala)
c.4018T>G (p.Ser1340Ala)
c.4078T>G (p.Ser1360Ala)
c.3730T>G (p.Ser1244Ala)
c.3559T>G (p.Ser1187Ala)
c.3445T>G (p.Ser1149Ala)
c.3007T>G (p.Ser1003Ala)
n.4275T>G
3g.47000199C>ACA352516913NBEAL2c.4100C>A (p.Ser1367Ter)
c.3998C>A (p.Ser1333Ter)
n.437C>A
c.1963C>A
c.572C>A (p.Ser191Ter)
c.4019C>A (p.Ser1340Ter)
c.4079C>A (p.Ser1360Ter)
c.3731C>A (p.Ser1244Ter)
c.3560C>A (p.Ser1187Ter)
c.3446C>A (p.Ser1149Ter)
c.3008C>A (p.Ser1003Ter)
n.4276C>A
3g.47000199C>GCA352516915NBEAL2c.4100C>G (p.Ser1367Ter)
c.3998C>G (p.Ser1333Ter)
n.437C>G
c.1963C>G
c.572C>G (p.Ser191Ter)
c.4019C>G (p.Ser1340Ter)
c.4079C>G (p.Ser1360Ter)
c.3731C>G (p.Ser1244Ter)
c.3560C>G (p.Ser1187Ter)
c.3446C>G (p.Ser1149Ter)
c.3008C>G (p.Ser1003Ter)
n.4276C>G
3g.47000199C>TCA352516914NBEAL2c.4100C>T (p.Ser1367Leu)
c.3998C>T (p.Ser1333Leu)
n.437C>T
c.1963C>T
c.572C>T (p.Ser191Leu)
c.4019C>T (p.Ser1340Leu)
c.4079C>T (p.Ser1360Leu)
c.3731C>T (p.Ser1244Leu)
c.3560C>T (p.Ser1187Leu)
c.3446C>T (p.Ser1149Leu)
c.3008C>T (p.Ser1003Leu)
n.4276C>T
 gnomAD v4
3g.47000200A>CCA433598225NBEAL2c.4101A>C (p.Ser1367=)
c.3999A>C (p.Ser1333=)
n.438A>C
c.1964A>C
c.573A>C (p.Ser191=)
c.4020A>C (p.Ser1340=)
c.4080A>C (p.Ser1360=)
c.3732A>C (p.Ser1244=)
c.3561A>C (p.Ser1187=)
c.3447A>C (p.Ser1149=)
c.3009A>C (p.Ser1003=)
n.4277A>C
3g.47000200A>GCA433598226NBEAL2c.4101A>G (p.Ser1367=)
c.3999A>G (p.Ser1333=)
n.438A>G
c.1964A>G
c.573A>G (p.Ser191=)
c.4020A>G (p.Ser1340=)
c.4080A>G (p.Ser1360=)
c.3732A>G (p.Ser1244=)
c.3561A>G (p.Ser1187=)
c.3447A>G (p.Ser1149=)
c.3009A>G (p.Ser1003=)
n.4277A>G
3g.47000200A>TCA433598227NBEAL2c.4101A>T (p.Ser1367=)
c.3999A>T (p.Ser1333=)
n.438A>T
c.1964A>T
c.573A>T (p.Ser191=)
c.4020A>T (p.Ser1340=)
c.4080A>T (p.Ser1360=)
c.3732A>T (p.Ser1244=)
c.3561A>T (p.Ser1187=)
c.3447A>T (p.Ser1149=)
c.3009A>T (p.Ser1003=)
n.4277A>T
3g.47000201G>ACA73817788NBEAL2c.4102G>A (p.Gly1368Ser)
c.4000G>A (p.Gly1334Ser)
n.439G>A
c.1965G>A
c.574G>A (p.Gly192Ser)
c.4021G>A (p.Gly1341Ser)
c.4081G>A (p.Gly1361Ser)
c.3733G>A (p.Gly1245Ser)
c.3562G>A (p.Gly1188Ser)
c.3448G>A (p.Gly1150Ser)
c.3010G>A (p.Gly1004Ser)
n.4278G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.47000201G>CCA352516916NBEAL2c.4102G>C (p.Gly1368Arg)
c.4000G>C (p.Gly1334Arg)
n.439G>C
c.1965G>C
c.574G>C (p.Gly192Arg)
c.4021G>C (p.Gly1341Arg)
c.4081G>C (p.Gly1361Arg)
c.3733G>C (p.Gly1245Arg)
c.3562G>C (p.Gly1188Arg)
c.3448G>C (p.Gly1150Arg)
c.3010G>C (p.Gly1004Arg)
n.4278G>C
3g.47000201G=CA1362363063NBEAL2c.4102G= (p.Gly1368=)
c.4000G= (p.Gly1334=)
n.439G=
c.1965G=
c.574G= (p.Gly192=)
c.4021G= (p.Gly1341=)
c.4081G= (p.Gly1361=)
c.3733G= (p.Gly1245=)
c.3562G= (p.Gly1188=)
c.3448G= (p.Gly1150=)
c.3010G= (p.Gly1004=)
n.4278G=
3g.47000201G>TCA352516917NBEAL2c.4102G>T (p.Gly1368Cys)
c.4000G>T (p.Gly1334Cys)
n.439G>T
c.1965G>T
c.574G>T (p.Gly192Cys)
c.4021G>T (p.Gly1341Cys)
c.4081G>T (p.Gly1361Cys)
c.3733G>T (p.Gly1245Cys)
c.3562G>T (p.Gly1188Cys)
c.3448G>T (p.Gly1150Cys)
c.3010G>T (p.Gly1004Cys)
n.4278G>T
3g.47000202G>ACA2361143NBEAL2c.4103G>A (p.Gly1368Asp)
c.4001G>A (p.Gly1334Asp)
n.440G>A
c.1966G>A
c.575G>A (p.Gly192Asp)
c.4022G>A (p.Gly1341Asp)
c.4082G>A (p.Gly1361Asp)
c.3734G>A (p.Gly1245Asp)
c.3563G>A (p.Gly1188Asp)
c.3449G>A (p.Gly1150Asp)
c.3011G>A (p.Gly1004Asp)
n.4279G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.47000202G>CCA352516918NBEAL2c.4103G>C (p.Gly1368Ala)
c.4001G>C (p.Gly1334Ala)
n.440G>C
c.1966G>C
c.575G>C (p.Gly192Ala)
c.4022G>C (p.Gly1341Ala)
c.4082G>C (p.Gly1361Ala)
c.3734G>C (p.Gly1245Ala)
c.3563G>C (p.Gly1188Ala)
c.3449G>C (p.Gly1150Ala)
c.3011G>C (p.Gly1004Ala)
n.4279G>C
3g.47000202G=CA1362363064NBEAL2c.4103G= (p.Gly1368=)
c.4001G= (p.Gly1334=)
n.440G=
c.1966G=
c.575G= (p.Gly192=)
c.4022G= (p.Gly1341=)
c.4082G= (p.Gly1361=)
c.3734G= (p.Gly1245=)
c.3563G= (p.Gly1188=)
c.3449G= (p.Gly1150=)
c.3011G= (p.Gly1004=)
n.4279G=
3g.47000202G>TCA352516919NBEAL2c.4103G>T (p.Gly1368Val)
c.4001G>T (p.Gly1334Val)
n.440G>T
c.1966G>T
c.575G>T (p.Gly192Val)
c.4022G>T (p.Gly1341Val)
c.4082G>T (p.Gly1361Val)
c.3734G>T (p.Gly1245Val)
c.3563G>T (p.Gly1188Val)
c.3449G>T (p.Gly1150Val)
c.3011G>T (p.Gly1004Val)
n.4279G>T
 gnomAD v4
3g.47000203C>ACA433598229NBEAL2c.4104C>A (p.Gly1368=)
c.4002C>A (p.Gly1334=)
n.441C>A
c.1967C>A
c.576C>A (p.Gly192=)
c.4023C>A (p.Gly1341=)
c.4083C>A (p.Gly1361=)
c.3735C>A (p.Gly1245=)
c.3564C>A (p.Gly1188=)
c.3450C>A (p.Gly1150=)
c.3012C>A (p.Gly1004=)
n.4280C>A
3g.47000203C>GCA433598231NBEAL2c.4104C>G (p.Gly1368=)
c.4002C>G (p.Gly1334=)
n.441C>G
c.1967C>G
c.576C>G (p.Gly192=)
c.4023C>G (p.Gly1341=)
c.4083C>G (p.Gly1361=)
c.3735C>G (p.Gly1245=)
c.3564C>G (p.Gly1188=)
c.3450C>G (p.Gly1150=)
c.3012C>G (p.Gly1004=)
n.4280C>G
3g.47000203C>TCA433598233NBEAL2c.4104C>T (p.Gly1368=)
c.4002C>T (p.Gly1334=)
n.441C>T
c.1967C>T
c.576C>T (p.Gly192=)
c.4023C>T (p.Gly1341=)
c.4083C>T (p.Gly1361=)
c.3735C>T (p.Gly1245=)
c.3564C>T (p.Gly1188=)
c.3450C>T (p.Gly1150=)
c.3012C>T (p.Gly1004=)
n.4280C>T
3g.47000204A>CCA352516920NBEAL2c.4105A>C (p.Asn1369His)
c.4003A>C (p.Asn1335His)
n.442A>C
c.1968A>C
c.577A>C (p.Asn193His)
c.4024A>C (p.Asn1342His)
c.4084A>C (p.Asn1362His)
c.3736A>C (p.Asn1246His)
c.3565A>C (p.Asn1189His)
c.3451A>C (p.Asn1151His)
c.3013A>C (p.Asn1005His)
n.4281A>C
3g.47000204A>GCA352516921NBEAL2c.4105A>G (p.Asn1369Asp)
c.4003A>G (p.Asn1335Asp)
n.442A>G
c.1968A>G
c.577A>G (p.Asn193Asp)
c.4024A>G (p.Asn1342Asp)
c.4084A>G (p.Asn1362Asp)
c.3736A>G (p.Asn1246Asp)
c.3565A>G (p.Asn1189Asp)
c.3451A>G (p.Asn1151Asp)
c.3013A>G (p.Asn1005Asp)
n.4281A>G
3g.47000204A>TCA352516922NBEAL2c.4105A>T (p.Asn1369Tyr)
c.4003A>T (p.Asn1335Tyr)
n.442A>T
c.1968A>T
c.577A>T (p.Asn193Tyr)
c.4024A>T (p.Asn1342Tyr)
c.4084A>T (p.Asn1362Tyr)
c.3736A>T (p.Asn1246Tyr)
c.3565A>T (p.Asn1189Tyr)
c.3451A>T (p.Asn1151Tyr)
c.3013A>T (p.Asn1005Tyr)
n.4281A>T
3g.47000205A=CA1362363065NBEAL2c.4106A= (p.Asn1369=)
c.4004A= (p.Asn1335=)
n.443A=
c.1969A=
c.578A= (p.Asn193=)
c.4025A= (p.Asn1342=)
c.4085A= (p.Asn1362=)
c.3737A= (p.Asn1246=)
c.3566A= (p.Asn1189=)
c.3452A= (p.Asn1151=)
c.3014A= (p.Asn1005=)
n.4282A=
3g.47000205A>CCA352516923NBEAL2c.4106A>C (p.Asn1369Thr)
c.4004A>C (p.Asn1335Thr)
n.443A>C
c.1969A>C
c.578A>C (p.Asn193Thr)
c.4025A>C (p.Asn1342Thr)
c.4085A>C (p.Asn1362Thr)
c.3737A>C (p.Asn1246Thr)
c.3566A>C (p.Asn1189Thr)
c.3452A>C (p.Asn1151Thr)
c.3014A>C (p.Asn1005Thr)
n.4282A>C
3g.47000205A>GCA352516924NBEAL2c.4106A>G (p.Asn1369Ser)
c.4004A>G (p.Asn1335Ser)
n.443A>G
c.1969A>G
c.578A>G (p.Asn193Ser)
c.4025A>G (p.Asn1342Ser)
c.4085A>G (p.Asn1362Ser)
c.3737A>G (p.Asn1246Ser)
c.3566A>G (p.Asn1189Ser)
c.3452A>G (p.Asn1151Ser)
c.3014A>G (p.Asn1005Ser)
n.4282A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.47000205A>TCA352516925NBEAL2c.4106A>T (p.Asn1369Ile)
c.4004A>T (p.Asn1335Ile)
n.443A>T
c.1969A>T
c.578A>T (p.Asn193Ile)
c.4025A>T (p.Asn1342Ile)
c.4085A>T (p.Asn1362Ile)
c.3737A>T (p.Asn1246Ile)
c.3566A>T (p.Asn1189Ile)
c.3452A>T (p.Asn1151Ile)
c.3014A>T (p.Asn1005Ile)
n.4282A>T
3g.47000206C>ACA352516926NBEAL2c.4107C>A (p.Asn1369Lys)
c.4005C>A (p.Asn1335Lys)
n.444C>A
c.1970C>A
c.579C>A (p.Asn193Lys)
c.4026C>A (p.Asn1342Lys)
c.4086C>A (p.Asn1362Lys)
c.3738C>A (p.Asn1246Lys)
c.3567C>A (p.Asn1189Lys)
c.3453C>A (p.Asn1151Lys)
c.3015C>A (p.Asn1005Lys)
n.4283C>A
3g.47000206C=CA1362363066NBEAL2c.4107C= (p.Asn1369=)
c.4005C= (p.Asn1335=)
n.444C=
c.1970C=
c.579C= (p.Asn193=)
c.4026C= (p.Asn1342=)
c.4086C= (p.Asn1362=)
c.3738C= (p.Asn1246=)
c.3567C= (p.Asn1189=)
c.3453C= (p.Asn1151=)
c.3015C= (p.Asn1005=)
n.4283C=
3g.47000206C>GCA352516927NBEAL2c.4107C>G (p.Asn1369Lys)
c.4005C>G (p.Asn1335Lys)
n.444C>G
c.1970C>G
c.579C>G (p.Asn193Lys)
c.4026C>G (p.Asn1342Lys)
c.4086C>G (p.Asn1362Lys)
c.3738C>G (p.Asn1246Lys)
c.3567C>G (p.Asn1189Lys)
c.3453C>G (p.Asn1151Lys)
c.3015C>G (p.Asn1005Lys)
n.4283C>G
 dbSNP gnomAD v4
3g.47000206C>TCA2361144NBEAL2c.4107C>T (p.Asn1369=)
c.4005C>T (p.Asn1335=)
n.444C>T
c.1970C>T
c.579C>T (p.Asn193=)
c.4026C>T (p.Asn1342=)
c.4086C>T (p.Asn1362=)
c.3738C>T (p.Asn1246=)
c.3567C>T (p.Asn1189=)
c.3453C>T (p.Asn1151=)
c.3015C>T (p.Asn1005=)
n.4283C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.47000207A=CA1362363067NBEAL2c.4108A= (p.Thr1370=)
c.4006A= (p.Thr1336=)
n.445A=
c.1971A=
c.580A= (p.Thr194=)
c.4027A= (p.Thr1343=)
c.4087A= (p.Thr1363=)
c.3739A= (p.Thr1247=)
c.3568A= (p.Thr1190=)
c.3454A= (p.Thr1152=)
c.3016A= (p.Thr1006=)
n.4284A=
3g.47000207A>CCA352516928NBEAL2c.4108A>C (p.Thr1370Pro)
c.4006A>C (p.Thr1336Pro)
n.445A>C
c.1971A>C
c.580A>C (p.Thr194Pro)
c.4027A>C (p.Thr1343Pro)
c.4087A>C (p.Thr1363Pro)
c.3739A>C (p.Thr1247Pro)
c.3568A>C (p.Thr1190Pro)
c.3454A>C (p.Thr1152Pro)
c.3016A>C (p.Thr1006Pro)
n.4284A>C
3g.47000207A>GCA73817796NBEAL2c.4108A>G (p.Thr1370Ala)
c.4006A>G (p.Thr1336Ala)
n.445A>G
c.1971A>G
c.580A>G (p.Thr194Ala)
c.4027A>G (p.Thr1343Ala)
c.4087A>G (p.Thr1363Ala)
c.3739A>G (p.Thr1247Ala)
c.3568A>G (p.Thr1190Ala)
c.3454A>G (p.Thr1152Ala)
c.3016A>G (p.Thr1006Ala)
n.4284A>G
 dbSNP gnomAD v2 gnomAD v4
3g.47000207A>TCA352516929NBEAL2c.4108A>T (p.Thr1370Ser)
c.4006A>T (p.Thr1336Ser)
n.445A>T
c.1971A>T
c.580A>T (p.Thr194Ser)
c.4027A>T (p.Thr1343Ser)
c.4087A>T (p.Thr1363Ser)
c.3739A>T (p.Thr1247Ser)
c.3568A>T (p.Thr1190Ser)
c.3454A>T (p.Thr1152Ser)
c.3016A>T (p.Thr1006Ser)
n.4284A>T
3g.47000208C>ACA352516930NBEAL2c.4109C>A (p.Thr1370Asn)
c.4007C>A (p.Thr1336Asn)
n.446C>A
c.1972C>A
c.581C>A (p.Thr194Asn)
c.4028C>A (p.Thr1343Asn)
c.4088C>A (p.Thr1363Asn)
c.3740C>A (p.Thr1247Asn)
c.3569C>A (p.Thr1190Asn)
c.3455C>A (p.Thr1152Asn)
c.3017C>A (p.Thr1006Asn)
n.4285C>A
 gnomAD v4
3g.47000208C=CA1362363068NBEAL2c.4109C= (p.Thr1370=)
c.4007C= (p.Thr1336=)
n.446C=
c.1972C=
c.581C= (p.Thr194=)
c.4028C= (p.Thr1343=)
c.4088C= (p.Thr1363=)
c.3740C= (p.Thr1247=)
c.3569C= (p.Thr1190=)
c.3455C= (p.Thr1152=)
c.3017C= (p.Thr1006=)
n.4285C=
3g.47000208C>GCA352516931NBEAL2c.4109C>G (p.Thr1370Ser)
c.4007C>G (p.Thr1336Ser)
n.446C>G
c.1972C>G
c.581C>G (p.Thr194Ser)
c.4028C>G (p.Thr1343Ser)
c.4088C>G (p.Thr1363Ser)
c.3740C>G (p.Thr1247Ser)
c.3569C>G (p.Thr1190Ser)
c.3455C>G (p.Thr1152Ser)
c.3017C>G (p.Thr1006Ser)
n.4285C>G
3g.47000208C>TCA352516932NBEAL2c.4109C>T (p.Thr1370Ile)
c.4007C>T (p.Thr1336Ile)
n.446C>T
c.1972C>T
c.581C>T (p.Thr194Ile)
c.4028C>T (p.Thr1343Ile)
c.4088C>T (p.Thr1363Ile)
c.3740C>T (p.Thr1247Ile)
c.3569C>T (p.Thr1190Ile)
c.3455C>T (p.Thr1152Ile)
c.3017C>T (p.Thr1006Ile)
n.4285C>T
 dbSNP gnomAD v3 gnomAD v4
3g.47000209T>ACA433598241NBEAL2c.4110T>A (p.Thr1370=)
c.4008T>A (p.Thr1336=)
n.447T>A
c.1973T>A
c.582T>A (p.Thr194=)
c.4029T>A (p.Thr1343=)
c.4089T>A (p.Thr1363=)
c.3741T>A (p.Thr1247=)
c.3570T>A (p.Thr1190=)
c.3456T>A (p.Thr1152=)
c.3018T>A (p.Thr1006=)
n.4286T>A
3g.47000209T>CCA433598242NBEAL2c.4110T>C (p.Thr1370=)
c.4008T>C (p.Thr1336=)
n.447T>C
c.1973T>C
c.582T>C (p.Thr194=)
c.4029T>C (p.Thr1343=)
c.4089T>C (p.Thr1363=)
c.3741T>C (p.Thr1247=)
c.3570T>C (p.Thr1190=)
c.3456T>C (p.Thr1152=)
c.3018T>C (p.Thr1006=)
n.4286T>C
 dbSNP
3g.47000209T>GCA433598240NBEAL2c.4110T>G (p.Thr1370=)
c.4008T>G (p.Thr1336=)
n.447T>G
c.1973T>G
c.582T>G (p.Thr194=)
c.4029T>G (p.Thr1343=)
c.4089T>G (p.Thr1363=)
c.3741T>G (p.Thr1247=)
c.3570T>G (p.Thr1190=)
c.3456T>G (p.Thr1152=)
c.3018T>G (p.Thr1006=)
n.4286T>G
3g.47000209T=CA1362363069NBEAL2c.4110T= (p.Thr1370=)
c.4008T= (p.Thr1336=)
n.447T=
c.1973T=
c.582T= (p.Thr194=)
c.4029T= (p.Thr1343=)
c.4089T= (p.Thr1363=)
c.3741T= (p.Thr1247=)
c.3570T= (p.Thr1190=)
c.3456T= (p.Thr1152=)
c.3018T= (p.Thr1006=)
n.4286T=
3g.47000210G>ACA352516933NBEAL2c.4111G>A (p.Ala1371Thr)
c.4009G>A (p.Ala1337Thr)
n.448G>A
c.1974G>A
c.583G>A (p.Ala195Thr)
c.4030G>A (p.Ala1344Thr)
c.4090G>A (p.Ala1364Thr)
c.3742G>A (p.Ala1248Thr)
c.3571G>A (p.Ala1191Thr)
c.3457G>A (p.Ala1153Thr)
c.3019G>A (p.Ala1007Thr)
n.4287G>A
 gnomAD v4
3g.47000210G>CCA352516934NBEAL2c.4111G>C (p.Ala1371Pro)
c.4009G>C (p.Ala1337Pro)
n.448G>C
c.1974G>C
c.583G>C (p.Ala195Pro)
c.4030G>C (p.Ala1344Pro)
c.4090G>C (p.Ala1364Pro)
c.3742G>C (p.Ala1248Pro)
c.3571G>C (p.Ala1191Pro)
c.3457G>C (p.Ala1153Pro)
c.3019G>C (p.Ala1007Pro)
n.4287G>C
3g.47000210G>TCA352516935NBEAL2c.4111G>T (p.Ala1371Ser)
c.4009G>T (p.Ala1337Ser)
n.448G>T
c.1974G>T
c.583G>T (p.Ala195Ser)
c.4030G>T (p.Ala1344Ser)
c.4090G>T (p.Ala1364Ser)
c.3742G>T (p.Ala1248Ser)
c.3571G>T (p.Ala1191Ser)
c.3457G>T (p.Ala1153Ser)
c.3019G>T (p.Ala1007Ser)
n.4287G>T
3g.47000211C>ACA352516936NBEAL2c.4112C>A (p.Ala1371Asp)
c.4010C>A (p.Ala1337Asp)
n.449C>A
c.1975C>A
c.584C>A (p.Ala195Asp)
c.4031C>A (p.Ala1344Asp)
c.4091C>A (p.Ala1364Asp)
c.3743C>A (p.Ala1248Asp)
c.3572C>A (p.Ala1191Asp)
c.3458C>A (p.Ala1153Asp)
c.3020C>A (p.Ala1007Asp)
n.4288C>A
3g.47000211C>GCA352516937NBEAL2c.4112C>G (p.Ala1371Gly)
c.4010C>G (p.Ala1337Gly)
n.449C>G
c.1975C>G
c.584C>G (p.Ala195Gly)
c.4031C>G (p.Ala1344Gly)
c.4091C>G (p.Ala1364Gly)
c.3743C>G (p.Ala1248Gly)
c.3572C>G (p.Ala1191Gly)
c.3458C>G (p.Ala1153Gly)
c.3020C>G (p.Ala1007Gly)
n.4288C>G
3g.47000211C>TCA352516938NBEAL2c.4112C>T (p.Ala1371Val)
c.4010C>T (p.Ala1337Val)
n.449C>T
c.1975C>T
c.584C>T (p.Ala195Val)
c.4031C>T (p.Ala1344Val)
c.4091C>T (p.Ala1364Val)
c.3743C>T (p.Ala1248Val)
c.3572C>T (p.Ala1191Val)
c.3458C>T (p.Ala1153Val)
c.3020C>T (p.Ala1007Val)
n.4288C>T
3g.47000212T>ACA433598246NBEAL2c.4113T>A (p.Ala1371=)
c.4011T>A (p.Ala1337=)
n.450T>A
c.1976T>A
c.585T>A (p.Ala195=)
c.4032T>A (p.Ala1344=)
c.4092T>A (p.Ala1364=)
c.3744T>A (p.Ala1248=)
c.3573T>A (p.Ala1191=)
c.3459T>A (p.Ala1153=)
c.3021T>A (p.Ala1007=)
n.4289T>A
3g.47000212T>CCA433598243NBEAL2c.4113T>C (p.Ala1371=)
c.4011T>C (p.Ala1337=)
n.450T>C
c.1976T>C
c.585T>C (p.Ala195=)
c.4032T>C (p.Ala1344=)
c.4092T>C (p.Ala1364=)
c.3744T>C (p.Ala1248=)
c.3573T>C (p.Ala1191=)
c.3459T>C (p.Ala1153=)
c.3021T>C (p.Ala1007=)
n.4289T>C
3g.47000212T>GCA433598245NBEAL2c.4113T>G (p.Ala1371=)
c.4011T>G (p.Ala1337=)
n.450T>G
c.1976T>G
c.585T>G (p.Ala195=)
c.4032T>G (p.Ala1344=)
c.4092T>G (p.Ala1364=)
c.3744T>G (p.Ala1248=)
c.3573T>G (p.Ala1191=)
c.3459T>G (p.Ala1153=)
c.3021T>G (p.Ala1007=)
n.4289T>G
3g.47000213G>ACA352516941NBEAL2c.4114G>A (p.Gly1372Ser)
c.4012G>A (p.Gly1338Ser)
n.451G>A
c.1977G>A
c.586G>A (p.Gly196Ser)
c.4033G>A (p.Gly1345Ser)
c.4093G>A (p.Gly1365Ser)
c.3745G>A (p.Gly1249Ser)
c.3574G>A (p.Gly1192Ser)
c.3460G>A (p.Gly1154Ser)
c.3022G>A (p.Gly1008Ser)
n.4290G>A
3g.47000213G>CCA352516939NBEAL2c.4114G>C (p.Gly1372Arg)
c.4012G>C (p.Gly1338Arg)
n.451G>C
c.1977G>C
c.586G>C (p.Gly196Arg)
c.4033G>C (p.Gly1345Arg)
c.4093G>C (p.Gly1365Arg)
c.3745G>C (p.Gly1249Arg)
c.3574G>C (p.Gly1192Arg)
c.3460G>C (p.Gly1154Arg)
c.3022G>C (p.Gly1008Arg)
n.4290G>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.47000213G=CA1362363070NBEAL2c.4114G= (p.Gly1372=)
c.4012G= (p.Gly1338=)
n.451G=
c.1977G=
c.586G= (p.Gly196=)
c.4033G= (p.Gly1345=)
c.4093G= (p.Gly1365=)
c.3745G= (p.Gly1249=)
c.3574G= (p.Gly1192=)
c.3460G= (p.Gly1154=)
c.3022G= (p.Gly1008=)
n.4290G=
3g.47000213G>TCA352516940NBEAL2c.4114G>T (p.Gly1372Cys)
c.4012G>T (p.Gly1338Cys)
n.451G>T
c.1977G>T
c.586G>T (p.Gly196Cys)
c.4033G>T (p.Gly1345Cys)
c.4093G>T (p.Gly1365Cys)
c.3745G>T (p.Gly1249Cys)
c.3574G>T (p.Gly1192Cys)
c.3460G>T (p.Gly1154Cys)
c.3022G>T (p.Gly1008Cys)
n.4290G>T
3g.47000214G>ACA73817798NBEAL2c.4115G>A (p.Gly1372Asp)
c.4013G>A (p.Gly1338Asp)
n.452G>A
c.1978G>A
c.587G>A (p.Gly196Asp)
c.4034G>A (p.Gly1345Asp)
c.4094G>A (p.Gly1365Asp)
c.3746G>A (p.Gly1249Asp)
c.3575G>A (p.Gly1192Asp)
c.3461G>A (p.Gly1154Asp)
c.3023G>A (p.Gly1008Asp)
n.4291G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.47000214G>CCA352516942NBEAL2c.4115G>C (p.Gly1372Ala)
c.4013G>C (p.Gly1338Ala)
n.452G>C
c.1978G>C
c.587G>C (p.Gly196Ala)
c.4034G>C (p.Gly1345Ala)
c.4094G>C (p.Gly1365Ala)
c.3746G>C (p.Gly1249Ala)
c.3575G>C (p.Gly1192Ala)
c.3461G>C (p.Gly1154Ala)
c.3023G>C (p.Gly1008Ala)
n.4291G>C
3g.47000214G=CA1362363071NBEAL2c.4115G= (p.Gly1372=)
c.4013G= (p.Gly1338=)
n.452G=
c.1978G=
c.587G= (p.Gly196=)
c.4034G= (p.Gly1345=)
c.4094G= (p.Gly1365=)
c.3746G= (p.Gly1249=)
c.3575G= (p.Gly1192=)
c.3461G= (p.Gly1154=)
c.3023G= (p.Gly1008=)
n.4291G=
3g.47000214G>TCA2361145NBEAL2c.4115G>T (p.Gly1372Val)
c.4013G>T (p.Gly1338Val)
n.452G>T
c.1978G>T
c.587G>T (p.Gly196Val)
c.4034G>T (p.Gly1345Val)
c.4094G>T (p.Gly1365Val)
c.3746G>T (p.Gly1249Val)
c.3575G>T (p.Gly1192Val)
c.3461G>T (p.Gly1154Val)
c.3023G>T (p.Gly1008Val)
n.4291G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.47000215T>ACA433598250NBEAL2c.4116T>A (p.Gly1372=)
c.4014T>A (p.Gly1338=)
n.453T>A
c.1979T>A
c.588T>A (p.Gly196=)
c.4035T>A (p.Gly1345=)
c.4095T>A (p.Gly1365=)
c.3747T>A (p.Gly1249=)
c.3576T>A (p.Gly1192=)
c.3462T>A (p.Gly1154=)
c.3024T>A (p.Gly1008=)
n.4292T>A
3g.47000215T>CCA433598252NBEAL2c.4116T>C (p.Gly1372=)
c.4014T>C (p.Gly1338=)
n.453T>C
c.1979T>C
c.588T>C (p.Gly196=)
c.4035T>C (p.Gly1345=)
c.4095T>C (p.Gly1365=)
c.3747T>C (p.Gly1249=)
c.3576T>C (p.Gly1192=)
c.3462T>C (p.Gly1154=)
c.3024T>C (p.Gly1008=)
n.4292T>C
3g.47000215T>GCA433598248NBEAL2c.4116T>G (p.Gly1372=)
c.4014T>G (p.Gly1338=)
n.453T>G
c.1979T>G
c.588T>G (p.Gly196=)
c.4035T>G (p.Gly1345=)
c.4095T>G (p.Gly1365=)
c.3747T>G (p.Gly1249=)
c.3576T>G (p.Gly1192=)
c.3462T>G (p.Gly1154=)
c.3024T>G (p.Gly1008=)
n.4292T>G
3g.47000216G>ACA352516943NBEAL2c.4117G>A (p.Gly1373Ser)
c.4015G>A (p.Gly1339Ser)
n.454G>A
c.1980G>A
c.589G>A (p.Gly197Ser)
c.4036G>A (p.Gly1346Ser)
c.4096G>A (p.Gly1366Ser)
c.3748G>A (p.Gly1250Ser)
c.3577G>A (p.Gly1193Ser)
c.3463G>A (p.Gly1155Ser)
c.3025G>A (p.Gly1009Ser)
n.4293G>A
 dbSNP
3g.47000216G>CCA2361146NBEAL2c.4117G>C (p.Gly1373Arg)
c.4015G>C (p.Gly1339Arg)
n.454G>C
c.1980G>C
c.589G>C (p.Gly197Arg)
c.4036G>C (p.Gly1346Arg)
c.4096G>C (p.Gly1366Arg)
c.3748G>C (p.Gly1250Arg)
c.3577G>C (p.Gly1193Arg)
c.3463G>C (p.Gly1155Arg)
c.3025G>C (p.Gly1009Arg)
n.4293G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.47000216G=CA1362363072NBEAL2c.4117G= (p.Gly1373=)
c.4015G= (p.Gly1339=)
n.454G=
c.1980G=
c.589G= (p.Gly197=)
c.4036G= (p.Gly1346=)
c.4096G= (p.Gly1366=)
c.3748G= (p.Gly1250=)
c.3577G= (p.Gly1193=)
c.3463G= (p.Gly1155=)
c.3025G= (p.Gly1009=)
n.4293G=
3g.47000216G>TCA352516944NBEAL2c.4117G>T (p.Gly1373Cys)
c.4015G>T (p.Gly1339Cys)
n.454G>T
c.1980G>T
c.589G>T (p.Gly197Cys)
c.4036G>T (p.Gly1346Cys)
c.4096G>T (p.Gly1366Cys)
c.3748G>T (p.Gly1250Cys)
c.3577G>T (p.Gly1193Cys)
c.3463G>T (p.Gly1155Cys)
c.3025G>T (p.Gly1009Cys)
n.4293G>T
3g.47000217G>ACA352516945NBEAL2c.4118G>A (p.Gly1373Asp)
c.4016G>A (p.Gly1339Asp)
n.455G>A
c.1981G>A
c.590G>A (p.Gly197Asp)
c.4037G>A (p.Gly1346Asp)
c.4097G>A (p.Gly1366Asp)
c.3749G>A (p.Gly1250Asp)
c.3578G>A (p.Gly1193Asp)
c.3464G>A (p.Gly1155Asp)
c.3026G>A (p.Gly1009Asp)
n.4294G>A
3g.47000217G>CCA352516946NBEAL2c.4118G>C (p.Gly1373Ala)
c.4016G>C (p.Gly1339Ala)
n.455G>C
c.1981G>C
c.590G>C (p.Gly197Ala)
c.4037G>C (p.Gly1346Ala)
c.4097G>C (p.Gly1366Ala)
c.3749G>C (p.Gly1250Ala)
c.3578G>C (p.Gly1193Ala)
c.3464G>C (p.Gly1155Ala)
c.3026G>C (p.Gly1009Ala)
n.4294G>C
3g.47000217G>TCA352516947NBEAL2c.4118G>T (p.Gly1373Val)
c.4016G>T (p.Gly1339Val)
n.455G>T
c.1981G>T
c.590G>T (p.Gly197Val)
c.4037G>T (p.Gly1346Val)
c.4097G>T (p.Gly1366Val)
c.3749G>T (p.Gly1250Val)
c.3578G>T (p.Gly1193Val)
c.3464G>T (p.Gly1155Val)
c.3026G>T (p.Gly1009Val)
n.4294G>T
3g.47000218T>ACA433598253NBEAL2c.4119T>A (p.Gly1373=)
c.4017T>A (p.Gly1339=)
n.456T>A
c.1982T>A
c.591T>A (p.Gly197=)
c.4038T>A (p.Gly1346=)
c.4098T>A (p.Gly1366=)
c.3750T>A (p.Gly1250=)
c.3579T>A (p.Gly1193=)
c.3465T>A (p.Gly1155=)
c.3027T>A (p.Gly1009=)
n.4295T>A
3g.47000218T>CCA433598255NBEAL2c.4119T>C (p.Gly1373=)
c.4017T>C (p.Gly1339=)
n.456T>C
c.1982T>C
c.591T>C (p.Gly197=)
c.4038T>C (p.Gly1346=)
c.4098T>C (p.Gly1366=)
c.3750T>C (p.Gly1250=)
c.3579T>C (p.Gly1193=)
c.3465T>C (p.Gly1155=)
c.3027T>C (p.Gly1009=)
n.4295T>C
 dbSNP
3g.47000218T>GCA433598257NBEAL2c.4119T>G (p.Gly1373=)
c.4017T>G (p.Gly1339=)
n.456T>G
c.1982T>G
c.591T>G (p.Gly197=)
c.4038T>G (p.Gly1346=)
c.4098T>G (p.Gly1366=)
c.3750T>G (p.Gly1250=)
c.3579T>G (p.Gly1193=)
c.3465T>G (p.Gly1155=)
c.3027T>G (p.Gly1009=)
n.4295T>G
3g.47000218T=CA1362363073NBEAL2c.4119T= (p.Gly1373=)
c.4017T= (p.Gly1339=)
n.456T=
c.1982T=
c.591T= (p.Gly197=)
c.4038T= (p.Gly1346=)
c.4098T= (p.Gly1366=)
c.3750T= (p.Gly1250=)
c.3579T= (p.Gly1193=)
c.3465T= (p.Gly1155=)
c.3027T= (p.Gly1009=)
n.4295T=
3g.47000219G>ACA352516948NBEAL2c.4120G>A (p.Gly1374Ser)
c.4018G>A (p.Gly1340Ser)
n.457G>A
c.1983G>A
c.592G>A (p.Gly198Ser)
c.4039G>A (p.Gly1347Ser)
c.4099G>A (p.Gly1367Ser)
c.3751G>A (p.Gly1251Ser)
c.3580G>A (p.Gly1194Ser)
c.3466G>A (p.Gly1156Ser)
c.3028G>A (p.Gly1010Ser)
n.4296G>A
3g.47000219G>CCA352516949NBEAL2c.4120G>C (p.Gly1374Arg)
c.4018G>C (p.Gly1340Arg)
n.457G>C
c.1983G>C
c.592G>C (p.Gly198Arg)
c.4039G>C (p.Gly1347Arg)
c.4099G>C (p.Gly1367Arg)
c.3751G>C (p.Gly1251Arg)
c.3580G>C (p.Gly1194Arg)
c.3466G>C (p.Gly1156Arg)
c.3028G>C (p.Gly1010Arg)
n.4296G>C
3g.47000219G>TCA352516950NBEAL2c.4120G>T (p.Gly1374Cys)
c.4018G>T (p.Gly1340Cys)
n.457G>T
c.1983G>T
c.592G>T (p.Gly198Cys)
c.4039G>T (p.Gly1347Cys)
c.4099G>T (p.Gly1367Cys)
c.3751G>T (p.Gly1251Cys)
c.3580G>T (p.Gly1194Cys)
c.3466G>T (p.Gly1156Cys)
c.3028G>T (p.Gly1010Cys)
n.4296G>T
3g.47000222_47000224dupCA433598259NBEAL2c.4123_4125dup (p.Gly1375_Ser1376insGly)
c.4021_4023dup (p.Gly1341_Ser1342insGly)
n.460_462dup
c.1986_1988dup
c.595_597dup (p.Gly199_Ser200insGly)
c.4042_4044dup (p.Gly1348_Ser1349insGly)
c.4102_4104dup (p.Gly1368_Ser1369insGly)
c.3754_3756dup (p.Gly1252_Ser1253insGly)
c.3583_3585dup (p.Gly1195_Ser1196insGly)
c.3469_3471dup (p.Gly1157_Ser1158insGly)
c.3031_3033dup (p.Gly1011_Ser1012insGly)
n.4299_4301dup
3g.47000220G>ACA10616153NBEAL2c.4121G>A (p.Gly1374Asp)
c.4019G>A (p.Gly1340Asp)
n.458G>A
c.1984G>A
c.593G>A (p.Gly198Asp)
c.4040G>A (p.Gly1347Asp)
c.4100G>A (p.Gly1367Asp)
c.3752G>A (p.Gly1251Asp)
c.3581G>A (p.Gly1194Asp)
c.3467G>A (p.Gly1156Asp)
c.3029G>A (p.Gly1010Asp)
n.4297G>A
 ClinVar dbSNP
3g.47000220G>CCA352516952NBEAL2c.4121G>C (p.Gly1374Ala)
c.4019G>C (p.Gly1340Ala)
n.458G>C
c.1984G>C
c.593G>C (p.Gly198Ala)
c.4040G>C (p.Gly1347Ala)
c.4100G>C (p.Gly1367Ala)
c.3752G>C (p.Gly1251Ala)
c.3581G>C (p.Gly1194Ala)
c.3467G>C (p.Gly1156Ala)
c.3029G>C (p.Gly1010Ala)
n.4297G>C
3g.47000220G=CA1362363074NBEAL2c.4121G= (p.Gly1374=)
c.4019G= (p.Gly1340=)
n.458G=
c.1984G=
c.593G= (p.Gly198=)
c.4040G= (p.Gly1347=)
c.4100G= (p.Gly1367=)
c.3752G= (p.Gly1251=)
c.3581G= (p.Gly1194=)
c.3467G= (p.Gly1156=)
c.3029G= (p.Gly1010=)
n.4297G=
3g.47000220G>TCA352516951NBEAL2c.4121G>T (p.Gly1374Val)
c.4019G>T (p.Gly1340Val)
n.458G>T
c.1984G>T
c.593G>T (p.Gly198Val)
c.4040G>T (p.Gly1347Val)
c.4100G>T (p.Gly1367Val)
c.3752G>T (p.Gly1251Val)
c.3581G>T (p.Gly1194Val)
c.3467G>T (p.Gly1156Val)
c.3029G>T (p.Gly1010Val)
n.4297G>T
3g.47000221C>ACA433598260NBEAL2c.4122C>A (p.Gly1374=)
c.4020C>A (p.Gly1340=)
n.459C>A
c.1985C>A
c.594C>A (p.Gly198=)
c.4041C>A (p.Gly1347=)
c.4101C>A (p.Gly1367=)
c.3753C>A (p.Gly1251=)
c.3582C>A (p.Gly1194=)
c.3468C>A (p.Gly1156=)
c.3030C>A (p.Gly1010=)
n.4298C>A
3g.47000221C=CA1362363075NBEAL2c.4122C= (p.Gly1374=)
c.4020C= (p.Gly1340=)
n.459C=
c.1985C=
c.594C= (p.Gly198=)
c.4041C= (p.Gly1347=)
c.4101C= (p.Gly1367=)
c.3753C= (p.Gly1251=)
c.3582C= (p.Gly1194=)
c.3468C= (p.Gly1156=)
c.3030C= (p.Gly1010=)
n.4298C=
3g.47000221C>GCA433598262NBEAL2c.4122C>G (p.Gly1374=)
c.4020C>G (p.Gly1340=)
n.459C>G
c.1985C>G
c.594C>G (p.Gly198=)
c.4041C>G (p.Gly1347=)
c.4101C>G (p.Gly1367=)
c.3753C>G (p.Gly1251=)
c.3582C>G (p.Gly1194=)
c.3468C>G (p.Gly1156=)
c.3030C>G (p.Gly1010=)
n.4298C>G
3g.47000221C>TCA2361147NBEAL2c.4122C>T (p.Gly1374=)
c.4020C>T (p.Gly1340=)
n.459C>T
c.1985C>T
c.594C>T (p.Gly198=)
c.4041C>T (p.Gly1347=)
c.4101C>T (p.Gly1367=)
c.3753C>T (p.Gly1251=)
c.3582C>T (p.Gly1194=)
c.3468C>T (p.Gly1156=)
c.3030C>T (p.Gly1010=)
n.4298C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.47000222G>ACA2361148NBEAL2c.4123G>A (p.Gly1375Ser)
c.4021G>A (p.Gly1341Ser)
n.460G>A
c.1986G>A
c.595G>A (p.Gly199Ser)
c.4042G>A (p.Gly1348Ser)
c.4102G>A (p.Gly1368Ser)
c.3754G>A (p.Gly1252Ser)
c.3583G>A (p.Gly1195Ser)
c.3469G>A (p.Gly1157Ser)
c.3031G>A (p.Gly1011Ser)
n.4299G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.47000222G>CCA352516953NBEAL2c.4123G>C (p.Gly1375Arg)
c.4021G>C (p.Gly1341Arg)
n.460G>C
c.1986G>C
c.595G>C (p.Gly199Arg)
c.4042G>C (p.Gly1348Arg)
c.4102G>C (p.Gly1368Arg)
c.3754G>C (p.Gly1252Arg)
c.3583G>C (p.Gly1195Arg)
c.3469G>C (p.Gly1157Arg)
c.3031G>C (p.Gly1011Arg)
n.4299G>C
3g.47000222G=CA1362363076NBEAL2c.4123G= (p.Gly1375=)
c.4021G= (p.Gly1341=)
n.460G=
c.1986G=
c.595G= (p.Gly199=)
c.4042G= (p.Gly1348=)
c.4102G= (p.Gly1368=)
c.3754G= (p.Gly1252=)
c.3583G= (p.Gly1195=)
c.3469G= (p.Gly1157=)
c.3031G= (p.Gly1011=)
n.4299G=
3g.47000222G>TCA352516954NBEAL2c.4123G>T (p.Gly1375Cys)
c.4021G>T (p.Gly1341Cys)
n.460G>T
c.1986G>T
c.595G>T (p.Gly199Cys)
c.4042G>T (p.Gly1348Cys)
c.4102G>T (p.Gly1368Cys)
c.3754G>T (p.Gly1252Cys)
c.3583G>T (p.Gly1195Cys)
c.3469G>T (p.Gly1157Cys)
c.3031G>T (p.Gly1011Cys)
n.4299G>T
3g.47000223G>ACA352516955NBEAL2c.4124G>A (p.Gly1375Asp)
c.4022G>A (p.Gly1341Asp)
n.461G>A
c.1987G>A
c.596G>A (p.Gly199Asp)
c.4043G>A (p.Gly1348Asp)
c.4103G>A (p.Gly1368Asp)
c.3755G>A (p.Gly1252Asp)
c.3584G>A (p.Gly1195Asp)
c.3470G>A (p.Gly1157Asp)
c.3032G>A (p.Gly1011Asp)
n.4300G>A
3g.47000223G>CCA352516957NBEAL2c.4124G>C (p.Gly1375Ala)
c.4022G>C (p.Gly1341Ala)
n.461G>C
c.1987G>C
c.596G>C (p.Gly199Ala)
c.4043G>C (p.Gly1348Ala)
c.4103G>C (p.Gly1368Ala)
c.3755G>C (p.Gly1252Ala)
c.3584G>C (p.Gly1195Ala)
c.3470G>C (p.Gly1157Ala)
c.3032G>C (p.Gly1011Ala)
n.4300G>C
3g.47000223G>TCA352516956NBEAL2c.4124G>T (p.Gly1375Val)
c.4022G>T (p.Gly1341Val)
n.461G>T
c.1987G>T
c.596G>T (p.Gly199Val)
c.4043G>T (p.Gly1348Val)
c.4103G>T (p.Gly1368Val)
c.3755G>T (p.Gly1252Val)
c.3584G>T (p.Gly1195Val)
c.3470G>T (p.Gly1157Val)
c.3032G>T (p.Gly1011Val)
n.4300G>T
3g.47000224C>ACA433598265NBEAL2c.4125C>A (p.Gly1375=)
c.4023C>A (p.Gly1341=)
n.462C>A
c.1988C>A
c.597C>A (p.Gly199=)
c.4044C>A (p.Gly1348=)
c.4104C>A (p.Gly1368=)
c.3756C>A (p.Gly1252=)
c.3585C>A (p.Gly1195=)
c.3471C>A (p.Gly1157=)
c.3033C>A (p.Gly1011=)
n.4301C>A
3g.47000224C=CA1362363077NBEAL2c.4125C= (p.Gly1375=)
c.4023C= (p.Gly1341=)
n.462C=
c.1988C=
c.597C= (p.Gly199=)
c.4044C= (p.Gly1348=)
c.4104C= (p.Gly1368=)
c.3756C= (p.Gly1252=)
c.3585C= (p.Gly1195=)
c.3471C= (p.Gly1157=)
c.3033C= (p.Gly1011=)
n.4301C=
3g.47000224C>GCA433598266NBEAL2c.4125C>G (p.Gly1375=)
c.4023C>G (p.Gly1341=)
n.462C>G
c.1988C>G
c.597C>G (p.Gly199=)
c.4044C>G (p.Gly1348=)
c.4104C>G (p.Gly1368=)
c.3756C>G (p.Gly1252=)
c.3585C>G (p.Gly1195=)
c.3471C>G (p.Gly1157=)
c.3033C>G (p.Gly1011=)
n.4301C>G
3g.47000224C>TCA2361149NBEAL2c.4125C>T (p.Gly1375=)
c.4023C>T (p.Gly1341=)
n.462C>T
c.1988C>T
c.597C>T (p.Gly199=)
c.4044C>T (p.Gly1348=)
c.4104C>T (p.Gly1368=)
c.3756C>T (p.Gly1252=)
c.3585C>T (p.Gly1195=)
c.3471C>T (p.Gly1157=)
c.3033C>T (p.Gly1011=)
n.4301C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.47000225A=CA1362363078NBEAL2c.4126A= (p.Ser1376=)
c.4024A= (p.Ser1342=)
n.463A=
c.1989A=
c.598A= (p.Ser200=)
c.4045A= (p.Ser1349=)
c.4105A= (p.Ser1369=)
c.3757A= (p.Ser1253=)
c.3586A= (p.Ser1196=)
c.3472A= (p.Ser1158=)
c.3034A= (p.Ser1012=)
n.4302A=
3g.47000225A>CCA352516958NBEAL2c.4126A>C (p.Ser1376Arg)
c.4024A>C (p.Ser1342Arg)
n.463A>C
c.1989A>C
c.598A>C (p.Ser200Arg)
c.4045A>C (p.Ser1349Arg)
c.4105A>C (p.Ser1369Arg)
c.3757A>C (p.Ser1253Arg)
c.3586A>C (p.Ser1196Arg)
c.3472A>C (p.Ser1158Arg)
c.3034A>C (p.Ser1012Arg)
n.4302A>C
3g.47000225A>GCA2361150NBEAL2c.4126A>G (p.Ser1376Gly)
c.4024A>G (p.Ser1342Gly)
n.463A>G
c.1989A>G
c.598A>G (p.Ser200Gly)
c.4045A>G (p.Ser1349Gly)
c.4105A>G (p.Ser1369Gly)
c.3757A>G (p.Ser1253Gly)
c.3586A>G (p.Ser1196Gly)
c.3472A>G (p.Ser1158Gly)
c.3034A>G (p.Ser1012Gly)
n.4302A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.47000225A>TCA352516959NBEAL2c.4126A>T (p.Ser1376Cys)
c.4024A>T (p.Ser1342Cys)
n.463A>T
c.1989A>T
c.598A>T (p.Ser200Cys)
c.4045A>T (p.Ser1349Cys)
c.4105A>T (p.Ser1369Cys)
c.3757A>T (p.Ser1253Cys)
c.3586A>T (p.Ser1196Cys)
c.3472A>T (p.Ser1158Cys)
c.3034A>T (p.Ser1012Cys)
n.4302A>T
3g.47000226G>ACA352516960NBEAL2c.4127G>A (p.Ser1376Asn)
c.4025G>A (p.Ser1342Asn)
n.464G>A
c.1990G>A
c.599G>A (p.Ser200Asn)
c.4046G>A (p.Ser1349Asn)
c.4106G>A (p.Ser1369Asn)
c.3758G>A (p.Ser1253Asn)
c.3587G>A (p.Ser1196Asn)
c.3473G>A (p.Ser1158Asn)
c.3035G>A (p.Ser1012Asn)
n.4303G>A
3g.47000226G>CCA352516961NBEAL2c.4127G>C (p.Ser1376Thr)
c.4025G>C (p.Ser1342Thr)
n.464G>C
c.1990G>C
c.599G>C (p.Ser200Thr)
c.4046G>C (p.Ser1349Thr)
c.4106G>C (p.Ser1369Thr)
c.3758G>C (p.Ser1253Thr)
c.3587G>C (p.Ser1196Thr)
c.3473G>C (p.Ser1158Thr)
c.3035G>C (p.Ser1012Thr)
n.4303G>C
3g.47000226G>TCA352516962NBEAL2c.4127G>T (p.Ser1376Ile)
c.4025G>T (p.Ser1342Ile)
n.464G>T
c.1990G>T
c.599G>T (p.Ser200Ile)
c.4046G>T (p.Ser1349Ile)
c.4106G>T (p.Ser1369Ile)
c.3758G>T (p.Ser1253Ile)
c.3587G>T (p.Ser1196Ile)
c.3473G>T (p.Ser1158Ile)
c.3035G>T (p.Ser1012Ile)
n.4303G>T
3g.47000227C>ACA352516963NBEAL2c.4128C>A (p.Ser1376Arg)
c.4026C>A (p.Ser1342Arg)
n.465C>A
c.1991C>A
c.600C>A (p.Ser200Arg)
c.4047C>A (p.Ser1349Arg)
c.4107C>A (p.Ser1369Arg)
c.3759C>A (p.Ser1253Arg)
c.3588C>A (p.Ser1196Arg)
c.3474C>A (p.Ser1158Arg)
c.3036C>A (p.Ser1012Arg)
n.4304C>A
3g.47000227C>GCA352516964NBEAL2c.4128C>G (p.Ser1376Arg)
c.4026C>G (p.Ser1342Arg)
n.465C>G
c.1991C>G
c.600C>G (p.Ser200Arg)
c.4047C>G (p.Ser1349Arg)
c.4107C>G (p.Ser1369Arg)
c.3759C>G (p.Ser1253Arg)
c.3588C>G (p.Ser1196Arg)
c.3474C>G (p.Ser1158Arg)
c.3036C>G (p.Ser1012Arg)
n.4304C>G
3g.47000227C>TCA433598268NBEAL2c.4128C>T (p.Ser1376=)
c.4026C>T (p.Ser1342=)
n.465C>T
c.1991C>T
c.600C>T (p.Ser200=)
c.4047C>T (p.Ser1349=)
c.4107C>T (p.Ser1369=)
c.3759C>T (p.Ser1253=)
c.3588C>T (p.Ser1196=)
c.3474C>T (p.Ser1158=)
c.3036C>T (p.Ser1012=)
n.4304C>T
3g.47000228A=CA1362363079NBEAL2c.4129A= (p.Ser1377=)
c.4027A= (p.Ser1343=)
n.466A=
c.1992A=
c.601A= (p.Ser201=)
c.4048A= (p.Ser1350=)
c.4108A= (p.Ser1370=)
c.3760A= (p.Ser1254=)
c.3589A= (p.Ser1197=)
c.3475A= (p.Ser1159=)
c.3037A= (p.Ser1013=)
n.4305A=
3g.47000228A>CCA352516965NBEAL2c.4129A>C (p.Ser1377Arg)
c.4027A>C (p.Ser1343Arg)
n.466A>C
c.1992A>C
c.601A>C (p.Ser201Arg)
c.4048A>C (p.Ser1350Arg)
c.4108A>C (p.Ser1370Arg)
c.3760A>C (p.Ser1254Arg)
c.3589A>C (p.Ser1197Arg)
c.3475A>C (p.Ser1159Arg)
c.3037A>C (p.Ser1013Arg)
n.4305A>C
3g.47000228A>GCA352516966NBEAL2c.4129A>G (p.Ser1377Gly)
c.4027A>G (p.Ser1343Gly)
n.466A>G
c.1992A>G
c.601A>G (p.Ser201Gly)
c.4048A>G (p.Ser1350Gly)
c.4108A>G (p.Ser1370Gly)
c.3760A>G (p.Ser1254Gly)
c.3589A>G (p.Ser1197Gly)
c.3475A>G (p.Ser1159Gly)
c.3037A>G (p.Ser1013Gly)
n.4305A>G
 dbSNP
3g.47000228A>TCA352516967NBEAL2c.4129A>T (p.Ser1377Cys)
c.4027A>T (p.Ser1343Cys)
n.466A>T
c.1992A>T
c.601A>T (p.Ser201Cys)
c.4048A>T (p.Ser1350Cys)
c.4108A>T (p.Ser1370Cys)
c.3760A>T (p.Ser1254Cys)
c.3589A>T (p.Ser1197Cys)
c.3475A>T (p.Ser1159Cys)
c.3037A>T (p.Ser1013Cys)
n.4305A>T
3g.47000229G>ACA352516968NBEAL2c.4130G>A (p.Ser1377Asn)
c.4028G>A (p.Ser1343Asn)
n.467G>A
c.1993G>A
c.602G>A (p.Ser201Asn)
c.4049G>A (p.Ser1350Asn)
c.4109G>A (p.Ser1370Asn)
c.3761G>A (p.Ser1254Asn)
c.3590G>A (p.Ser1197Asn)
c.3476G>A (p.Ser1159Asn)
c.3038G>A (p.Ser1013Asn)
n.4306G>A
3g.47000229G>CCA352516969NBEAL2c.4130G>C (p.Ser1377Thr)
c.4028G>C (p.Ser1343Thr)
n.467G>C
c.1993G>C
c.602G>C (p.Ser201Thr)
c.4049G>C (p.Ser1350Thr)
c.4109G>C (p.Ser1370Thr)
c.3761G>C (p.Ser1254Thr)
c.3590G>C (p.Ser1197Thr)
c.3476G>C (p.Ser1159Thr)
c.3038G>C (p.Ser1013Thr)
n.4306G>C
3g.47000229G>TCA352516970NBEAL2c.4130G>T (p.Ser1377Ile)
c.4028G>T (p.Ser1343Ile)
n.467G>T
c.1993G>T
c.602G>T (p.Ser201Ile)
c.4049G>T (p.Ser1350Ile)
c.4109G>T (p.Ser1370Ile)
c.3761G>T (p.Ser1254Ile)
c.3590G>T (p.Ser1197Ile)
c.3476G>T (p.Ser1159Ile)
c.3038G>T (p.Ser1013Ile)
n.4306G>T
 gnomAD v4
3g.47000230T>ACA352516971NBEAL2c.4131T>A (p.Ser1377Arg)
c.4029T>A (p.Ser1343Arg)
n.468T>A
c.1994T>A
c.603T>A (p.Ser201Arg)
c.4050T>A (p.Ser1350Arg)
c.4110T>A (p.Ser1370Arg)
c.3762T>A (p.Ser1254Arg)
c.3591T>A (p.Ser1197Arg)
c.3477T>A (p.Ser1159Arg)
c.3039T>A (p.Ser1013Arg)
n.4307T>A
3g.47000230T>CCA433598272NBEAL2c.4131T>C (p.Ser1377=)
c.4029T>C (p.Ser1343=)
n.468T>C
c.1994T>C
c.603T>C (p.Ser201=)
c.4050T>C (p.Ser1350=)
c.4110T>C (p.Ser1370=)
c.3762T>C (p.Ser1254=)
c.3591T>C (p.Ser1197=)
c.3477T>C (p.Ser1159=)
c.3039T>C (p.Ser1013=)
n.4307T>C
 dbSNP gnomAD v2 gnomAD v4
3g.47000230T>GCA352516972NBEAL2c.4131T>G (p.Ser1377Arg)
c.4029T>G (p.Ser1343Arg)
n.468T>G
c.1994T>G
c.603T>G (p.Ser201Arg)
c.4050T>G (p.Ser1350Arg)
c.4110T>G (p.Ser1370Arg)
c.3762T>G (p.Ser1254Arg)
c.3591T>G (p.Ser1197Arg)
c.3477T>G (p.Ser1159Arg)
c.3039T>G (p.Ser1013Arg)
n.4307T>G
 dbSNP
3g.47000230T=CA1362363080NBEAL2c.4131T= (p.Ser1377=)
c.4029T= (p.Ser1343=)
n.468T=
c.1994T=
c.603T= (p.Ser201=)
c.4050T= (p.Ser1350=)
c.4110T= (p.Ser1370=)
c.3762T= (p.Ser1254=)
c.3591T= (p.Ser1197=)
c.3477T= (p.Ser1159=)
c.3039T= (p.Ser1013=)
n.4307T=
3g.47000231G>ACA352516973NBEAL2c.4132G>A (p.Gly1378Arg)
c.4030G>A (p.Gly1344Arg)
n.469G>A
c.1995G>A
c.604G>A (p.Gly202Arg)
c.4051G>A (p.Gly1351Arg)
c.4111G>A (p.Gly1371Arg)
c.3763G>A (p.Gly1255Arg)
c.3592G>A (p.Gly1198Arg)
c.3478G>A (p.Gly1160Arg)
c.3040G>A (p.Gly1014Arg)
n.4308G>A
3g.47000231G>CCA352516974NBEAL2c.4132G>C (p.Gly1378Arg)
c.4030G>C (p.Gly1344Arg)
n.469G>C
c.1995G>C
c.604G>C (p.Gly202Arg)
c.4051G>C (p.Gly1351Arg)
c.4111G>C (p.Gly1371Arg)
c.3763G>C (p.Gly1255Arg)
c.3592G>C (p.Gly1198Arg)
c.3478G>C (p.Gly1160Arg)
c.3040G>C (p.Gly1014Arg)
n.4308G>C
3g.47000231G>TCA352516975NBEAL2c.4132G>T (p.Gly1378Trp)
c.4030G>T (p.Gly1344Trp)
n.469G>T
c.1995G>T
c.604G>T (p.Gly202Trp)
c.4051G>T (p.Gly1351Trp)
c.4111G>T (p.Gly1371Trp)
c.3763G>T (p.Gly1255Trp)
c.3592G>T (p.Gly1198Trp)
c.3478G>T (p.Gly1160Trp)
c.3040G>T (p.Gly1014Trp)
n.4308G>T
3g.47000232G>ACA73817818NBEAL2c.4133G>A (p.Gly1378Glu)
c.4031G>A (p.Gly1344Glu)
n.470G>A
c.1996G>A
c.605G>A (p.Gly202Glu)
c.4052G>A (p.Gly1351Glu)
c.4112G>A (p.Gly1371Glu)
c.3764G>A (p.Gly1255Glu)
c.3593G>A (p.Gly1198Glu)
c.3479G>A (p.Gly1160Glu)
c.3041G>A (p.Gly1014Glu)
n.4309G>A
 dbSNP gnomAD v3 gnomAD v4
3g.47000232G>CCA352516976NBEAL2c.4133G>C (p.Gly1378Ala)
c.4031G>C (p.Gly1344Ala)
n.470G>C
c.1996G>C
c.605G>C (p.Gly202Ala)
c.4052G>C (p.Gly1351Ala)
c.4112G>C (p.Gly1371Ala)
c.3764G>C (p.Gly1255Ala)
c.3593G>C (p.Gly1198Ala)
c.3479G>C (p.Gly1160Ala)
c.3041G>C (p.Gly1014Ala)
n.4309G>C
3g.47000232G=CA1362363081NBEAL2c.4133G= (p.Gly1378=)
c.4031G= (p.Gly1344=)
n.470G=
c.1996G=
c.605G= (p.Gly202=)
c.4052G= (p.Gly1351=)
c.4112G= (p.Gly1371=)
c.3764G= (p.Gly1255=)
c.3593G= (p.Gly1198=)
c.3479G= (p.Gly1160=)
c.3041G= (p.Gly1014=)
n.4309G=
3g.47000232G>TCA352516977NBEAL2c.4133G>T (p.Gly1378Val)
c.4031G>T (p.Gly1344Val)
n.470G>T
c.1996G>T
c.605G>T (p.Gly202Val)
c.4052G>T (p.Gly1351Val)
c.4112G>T (p.Gly1371Val)
c.3764G>T (p.Gly1255Val)
c.3593G>T (p.Gly1198Val)
c.3479G>T (p.Gly1160Val)
c.3041G>T (p.Gly1014Val)
n.4309G>T
3g.47000233G>ACA433598276NBEAL2c.4134G>A (p.Gly1378=)
c.4032G>A (p.Gly1344=)
n.471G>A
c.1997G>A
c.606G>A (p.Gly202=)
c.4053G>A (p.Gly1351=)
c.4113G>A (p.Gly1371=)
c.3765G>A (p.Gly1255=)
c.3594G>A (p.Gly1198=)
c.3480G>A (p.Gly1160=)
c.3042G>A (p.Gly1014=)
n.4310G>A
3g.47000233G>CCA433598277NBEAL2c.4134G>C (p.Gly1378=)
c.4032G>C (p.Gly1344=)
n.471G>C
c.1997G>C
c.606G>C (p.Gly202=)
c.4053G>C (p.Gly1351=)
c.4113G>C (p.Gly1371=)
c.3765G>C (p.Gly1255=)
c.3594G>C (p.Gly1198=)
c.3480G>C (p.Gly1160=)
c.3042G>C (p.Gly1014=)
n.4310G>C
3g.47000233G=CA1362363082NBEAL2c.4134G= (p.Gly1378=)
c.4032G= (p.Gly1344=)
n.471G=
c.1997G=
c.606G= (p.Gly202=)
c.4053G= (p.Gly1351=)
c.4113G= (p.Gly1371=)
c.3765G= (p.Gly1255=)
c.3594G= (p.Gly1198=)
c.3480G= (p.Gly1160=)
c.3042G= (p.Gly1014=)
n.4310G=
3g.47000233G>TCA73817824NBEAL2c.4134G>T (p.Gly1378=)
c.4032G>T (p.Gly1344=)
n.471G>T
c.1997G>T
c.606G>T (p.Gly202=)
c.4053G>T (p.Gly1351=)
c.4113G>T (p.Gly1371=)
c.3765G>T (p.Gly1255=)
c.3594G>T (p.Gly1198=)
c.3480G>T (p.Gly1160=)
c.3042G>T (p.Gly1014=)
n.4310G>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.47000234A=CA1362363083NBEAL2c.4135A= (p.Thr1379=)
c.4033A= (p.Thr1345=)
n.472A=
c.1998A=
c.607A= (p.Thr203=)
c.4054A= (p.Thr1352=)
c.4114A= (p.Thr1372=)
c.3766A= (p.Thr1256=)
c.3595A= (p.Thr1199=)
c.3481A= (p.Thr1161=)
c.3043A= (p.Thr1015=)
n.4311A=
3g.47000234A>CCA352516978NBEAL2c.4135A>C (p.Thr1379Pro)
c.4033A>C (p.Thr1345Pro)
n.472A>C
c.1998A>C
c.607A>C (p.Thr203Pro)
c.4054A>C (p.Thr1352Pro)
c.4114A>C (p.Thr1372Pro)
c.3766A>C (p.Thr1256Pro)
c.3595A>C (p.Thr1199Pro)
c.3481A>C (p.Thr1161Pro)
c.3043A>C (p.Thr1015Pro)
n.4311A>C
3g.47000234A>GCA352516979NBEAL2c.4135A>G (p.Thr1379Ala)
c.4033A>G (p.Thr1345Ala)
n.472A>G
c.1998A>G
c.607A>G (p.Thr203Ala)
c.4054A>G (p.Thr1352Ala)
c.4114A>G (p.Thr1372Ala)
c.3766A>G (p.Thr1256Ala)
c.3595A>G (p.Thr1199Ala)
c.3481A>G (p.Thr1161Ala)
c.3043A>G (p.Thr1015Ala)
n.4311A>G
 dbSNP
3g.47000234A>TCA352516980NBEAL2c.4135A>T (p.Thr1379Ser)
c.4033A>T (p.Thr1345Ser)
n.472A>T
c.1998A>T
c.607A>T (p.Thr203Ser)
c.4054A>T (p.Thr1352Ser)
c.4114A>T (p.Thr1372Ser)
c.3766A>T (p.Thr1256Ser)
c.3595A>T (p.Thr1199Ser)
c.3481A>T (p.Thr1161Ser)
c.3043A>T (p.Thr1015Ser)
n.4311A>T
3g.47000235C>ACA352516981NBEAL2c.4136C>A (p.Thr1379Asn)
c.4034C>A (p.Thr1345Asn)
n.473C>A
c.1999C>A
c.608C>A (p.Thr203Asn)
c.4055C>A (p.Thr1352Asn)
c.4115C>A (p.Thr1372Asn)
c.3767C>A (p.Thr1256Asn)
c.3596C>A (p.Thr1199Asn)
c.3482C>A (p.Thr1161Asn)
c.3044C>A (p.Thr1015Asn)
n.4312C>A
 COSMIC COSMIC
3g.47000235C>GCA352516982NBEAL2c.4136C>G (p.Thr1379Ser)
c.4034C>G (p.Thr1345Ser)
n.473C>G
c.1999C>G
c.608C>G (p.Thr203Ser)
c.4055C>G (p.Thr1352Ser)
c.4115C>G (p.Thr1372Ser)
c.3767C>G (p.Thr1256Ser)
c.3596C>G (p.Thr1199Ser)
c.3482C>G (p.Thr1161Ser)
c.3044C>G (p.Thr1015Ser)
n.4312C>G
3g.47000235C>TCA352516983NBEAL2c.4136C>T (p.Thr1379Ile)
c.4034C>T (p.Thr1345Ile)
n.473C>T
c.1999C>T
c.608C>T (p.Thr203Ile)
c.4055C>T (p.Thr1352Ile)
c.4115C>T (p.Thr1372Ile)
c.3767C>T (p.Thr1256Ile)
c.3596C>T (p.Thr1199Ile)
c.3482C>T (p.Thr1161Ile)
c.3044C>T (p.Thr1015Ile)
n.4312C>T
3g.47000236T>ACA433598280NBEAL2c.4137T>A (p.Thr1379=)
c.4035T>A (p.Thr1345=)
n.474T>A
c.2000T>A
c.609T>A (p.Thr203=)
c.4056T>A (p.Thr1352=)
c.4116T>A (p.Thr1372=)
c.3768T>A (p.Thr1256=)
c.3597T>A (p.Thr1199=)
c.3483T>A (p.Thr1161=)
c.3045T>A (p.Thr1015=)
n.4313T>A
3g.47000236T>CCA433598279NBEAL2c.4137T>C (p.Thr1379=)
c.4035T>C (p.Thr1345=)
n.474T>C
c.2000T>C
c.609T>C (p.Thr203=)
c.4056T>C (p.Thr1352=)
c.4116T>C (p.Thr1372=)
c.3768T>C (p.Thr1256=)
c.3597T>C (p.Thr1199=)
c.3483T>C (p.Thr1161=)
c.3045T>C (p.Thr1015=)
n.4313T>C
3g.47000236T>GCA433598278NBEAL2c.4137T>G (p.Thr1379=)
c.4035T>G (p.Thr1345=)
n.474T>G
c.2000T>G
c.609T>G (p.Thr203=)
c.4056T>G (p.Thr1352=)
c.4116T>G (p.Thr1372=)
c.3768T>G (p.Thr1256=)
c.3597T>G (p.Thr1199=)
c.3483T>G (p.Thr1161=)
c.3045T>G (p.Thr1015=)
n.4313T>G
3g.47000237C>ACA352516984NBEAL2c.4138C>A (p.Leu1380Ile)
c.4036C>A (p.Leu1346Ile)
n.475C>A
c.2001C>A
c.610C>A (p.Leu204Ile)
c.4057C>A (p.Leu1353Ile)
c.4117C>A (p.Leu1373Ile)
c.3769C>A (p.Leu1257Ile)
c.3598C>A (p.Leu1200Ile)
c.3484C>A (p.Leu1162Ile)
c.3046C>A (p.Leu1016Ile)
n.4314C>A
3g.47000237C=CA1362363084NBEAL2c.4138C= (p.Leu1380=)
c.4036C= (p.Leu1346=)
n.475C=
c.2001C=
c.610C= (p.Leu204=)
c.4057C= (p.Leu1353=)
c.4117C= (p.Leu1373=)
c.3769C= (p.Leu1257=)
c.3598C= (p.Leu1200=)
c.3484C= (p.Leu1162=)
c.3046C= (p.Leu1016=)
n.4314C=
3g.47000237C>GCA2361152NBEAL2c.4138C>G (p.Leu1380Val)
c.4036C>G (p.Leu1346Val)
n.475C>G
c.2001C>G
c.610C>G (p.Leu204Val)
c.4057C>G (p.Leu1353Val)
c.4117C>G (p.Leu1373Val)
c.3769C>G (p.Leu1257Val)
c.3598C>G (p.Leu1200Val)
c.3484C>G (p.Leu1162Val)
c.3046C>G (p.Leu1016Val)
n.4314C>G
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
3g.47000237C>TCA2361151NBEAL2c.4138C>T (p.Leu1380Phe)
c.4036C>T (p.Leu1346Phe)
n.475C>T
c.2001C>T
c.610C>T (p.Leu204Phe)
c.4057C>T (p.Leu1353Phe)
c.4117C>T (p.Leu1373Phe)
c.3769C>T (p.Leu1257Phe)
c.3598C>T (p.Leu1200Phe)
c.3484C>T (p.Leu1162Phe)
c.3046C>T (p.Leu1016Phe)
n.4314C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.47000238T>ACA352516985NBEAL2c.4139T>A (p.Leu1380His)
c.4037T>A (p.Leu1346His)
n.476T>A
c.2002T>A
c.611T>A (p.Leu204His)
c.4058T>A (p.Leu1353His)
c.4118T>A (p.Leu1373His)
c.3770T>A (p.Leu1257His)
c.3599T>A (p.Leu1200His)
c.3485T>A (p.Leu1162His)
c.3047T>A (p.Leu1016His)
n.4315T>A
3g.47000238T>CCA352516986NBEAL2c.4139T>C (p.Leu1380Pro)
c.4037T>C (p.Leu1346Pro)
n.476T>C
c.2002T>C
c.611T>C (p.Leu204Pro)
c.4058T>C (p.Leu1353Pro)
c.4118T>C (p.Leu1373Pro)
c.3770T>C (p.Leu1257Pro)
c.3599T>C (p.Leu1200Pro)
c.3485T>C (p.Leu1162Pro)
c.3047T>C (p.Leu1016Pro)
n.4315T>C
 gnomAD v4
3g.47000238T>GCA352516987NBEAL2c.4139T>G (p.Leu1380Arg)
c.4037T>G (p.Leu1346Arg)
n.476T>G
c.2002T>G
c.611T>G (p.Leu204Arg)
c.4058T>G (p.Leu1353Arg)
c.4118T>G (p.Leu1373Arg)
c.3770T>G (p.Leu1257Arg)
c.3599T>G (p.Leu1200Arg)
c.3485T>G (p.Leu1162Arg)
c.3047T>G (p.Leu1016Arg)
n.4315T>G
3g.47000239T>ACA433598286NBEAL2c.4140T>A (p.Leu1380=)
c.4038T>A (p.Leu1346=)
n.477T>A
c.2003T>A
c.612T>A (p.Leu204=)
c.4059T>A (p.Leu1353=)
c.4119T>A (p.Leu1373=)
c.3771T>A (p.Leu1257=)
c.3600T>A (p.Leu1200=)
c.3486T>A (p.Leu1162=)
c.3048T>A (p.Leu1016=)
n.4316T>A
3g.47000239T>CCA433598285NBEAL2c.4140T>C (p.Leu1380=)
c.4038T>C (p.Leu1346=)
n.477T>C
c.2003T>C
c.612T>C (p.Leu204=)
c.4059T>C (p.Leu1353=)
c.4119T>C (p.Leu1373=)
c.3771T>C (p.Leu1257=)
c.3600T>C (p.Leu1200=)
c.3486T>C (p.Leu1162=)
c.3048T>C (p.Leu1016=)
n.4316T>C
3g.47000239T>GCA433598284NBEAL2c.4140T>G (p.Leu1380=)
c.4038T>G (p.Leu1346=)
n.477T>G
c.2003T>G
c.612T>G (p.Leu204=)
c.4059T>G (p.Leu1353=)
c.4119T>G (p.Leu1373=)
c.3771T>G (p.Leu1257=)
c.3600T>G (p.Leu1200=)
c.3486T>G (p.Leu1162=)
c.3048T>G (p.Leu1016=)
n.4316T>G
3g.47000240A=CA1362363085NBEAL2c.4141A= (p.Thr1381=)
c.4039A= (p.Thr1347=)
n.478A=
c.2004A=
c.613A= (p.Thr205=)
c.4060A= (p.Thr1354=)
c.4120A= (p.Thr1374=)
c.3772A= (p.Thr1258=)
c.3601A= (p.Thr1201=)
c.3487A= (p.Thr1163=)
c.3049A= (p.Thr1017=)
n.4317A=
3g.47000240A>CCA73817829NBEAL2c.4141A>C (p.Thr1381Pro)
c.4039A>C (p.Thr1347Pro)
n.478A>C
c.2004A>C
c.613A>C (p.Thr205Pro)
c.4060A>C (p.Thr1354Pro)
c.4120A>C (p.Thr1374Pro)
c.3772A>C (p.Thr1258Pro)
c.3601A>C (p.Thr1201Pro)
c.3487A>C (p.Thr1163Pro)
c.3049A>C (p.Thr1017Pro)
n.4317A>C
 dbSNP gnomAD v3 gnomAD v4
3g.47000240A>GCA352516988NBEAL2c.4141A>G (p.Thr1381Ala)
c.4039A>G (p.Thr1347Ala)
n.478A>G
c.2004A>G
c.613A>G (p.Thr205Ala)
c.4060A>G (p.Thr1354Ala)
c.4120A>G (p.Thr1374Ala)
c.3772A>G (p.Thr1258Ala)
c.3601A>G (p.Thr1201Ala)
c.3487A>G (p.Thr1163Ala)
c.3049A>G (p.Thr1017Ala)
n.4317A>G
3g.47000240A>TCA352516989NBEAL2c.4141A>T (p.Thr1381Ser)
c.4039A>T (p.Thr1347Ser)
n.478A>T
c.2004A>T
c.613A>T (p.Thr205Ser)
c.4060A>T (p.Thr1354Ser)
c.4120A>T (p.Thr1374Ser)
c.3772A>T (p.Thr1258Ser)
c.3601A>T (p.Thr1201Ser)
c.3487A>T (p.Thr1163Ser)
c.3049A>T (p.Thr1017Ser)
n.4317A>T
3g.47000241C>ACA352516990NBEAL2c.4142C>A (p.Thr1381Asn)
c.4040C>A (p.Thr1347Asn)
n.479C>A
c.2005C>A
c.614C>A (p.Thr205Asn)
c.4061C>A (p.Thr1354Asn)
c.4121C>A (p.Thr1374Asn)
c.3773C>A (p.Thr1258Asn)
c.3602C>A (p.Thr1201Asn)
c.3488C>A (p.Thr1163Asn)
c.3050C>A (p.Thr1017Asn)
n.4318C>A
 gnomAD v4
3g.47000241C>GCA352516991NBEAL2c.4142C>G (p.Thr1381Ser)
c.4040C>G (p.Thr1347Ser)
n.479C>G
c.2005C>G
c.614C>G (p.Thr205Ser)
c.4061C>G (p.Thr1354Ser)
c.4121C>G (p.Thr1374Ser)
c.3773C>G (p.Thr1258Ser)
c.3602C>G (p.Thr1201Ser)
c.3488C>G (p.Thr1163Ser)
c.3050C>G (p.Thr1017Ser)
n.4318C>G
 gnomAD v4
3g.47000241C>TCA352516992NBEAL2c.4142C>T (p.Thr1381Ile)
c.4040C>T (p.Thr1347Ile)
n.479C>T
c.2005C>T
c.614C>T (p.Thr205Ile)
c.4061C>T (p.Thr1354Ile)
c.4121C>T (p.Thr1374Ile)
c.3773C>T (p.Thr1258Ile)
c.3602C>T (p.Thr1201Ile)
c.3488C>T (p.Thr1163Ile)
c.3050C>T (p.Thr1017Ile)
n.4318C>T
 gnomAD v4
3g.47000242T>ACA433598288NBEAL2c.4143T>A (p.Thr1381=)
c.4041T>A (p.Thr1347=)
n.480T>A
c.2006T>A
c.615T>A (p.Thr205=)
c.4062T>A (p.Thr1354=)
c.4122T>A (p.Thr1374=)
c.3774T>A (p.Thr1258=)
c.3603T>A (p.Thr1201=)
c.3489T>A (p.Thr1163=)
c.3051T>A (p.Thr1017=)
n.4319T>A
3g.47000242T>CCA433598291NBEAL2c.4143T>C (p.Thr1381=)
c.4041T>C (p.Thr1347=)
n.480T>C
c.2006T>C
c.615T>C (p.Thr205=)
c.4062T>C (p.Thr1354=)
c.4122T>C (p.Thr1374=)
c.3774T>C (p.Thr1258=)
c.3603T>C (p.Thr1201=)
c.3489T>C (p.Thr1163=)
c.3051T>C (p.Thr1017=)
n.4319T>C
3g.47000242T>GCA433598290NBEAL2c.4143T>G (p.Thr1381=)
c.4041T>G (p.Thr1347=)
n.480T>G
c.2006T>G
c.615T>G (p.Thr205=)
c.4062T>G (p.Thr1354=)
c.4122T>G (p.Thr1374=)
c.3774T>G (p.Thr1258=)
c.3603T>G (p.Thr1201=)
c.3489T>G (p.Thr1163=)
c.3051T>G (p.Thr1017=)
n.4319T>G
 dbSNP gnomAD v2
3g.47000242T=CA1362363086NBEAL2c.4143T= (p.Thr1381=)
c.4041T= (p.Thr1347=)
n.480T=
c.2006T=
c.615T= (p.Thr205=)
c.4062T= (p.Thr1354=)
c.4122T= (p.Thr1374=)
c.3774T= (p.Thr1258=)
c.3603T= (p.Thr1201=)
c.3489T= (p.Thr1163=)
c.3051T= (p.Thr1017=)
n.4319T=
3g.47000243C>ACA352516993NBEAL2c.4144C>A (p.Pro1382Thr)
c.4042C>A (p.Pro1348Thr)
n.481C>A
c.2007C>A
c.616C>A (p.Pro206Thr)
c.4063C>A (p.Pro1355Thr)
c.4123C>A (p.Pro1375Thr)
c.3775C>A (p.Pro1259Thr)
c.3604C>A (p.Pro1202Thr)
c.3490C>A (p.Pro1164Thr)
c.3052C>A (p.Pro1018Thr)
n.4320C>A
3g.47000243C>GCA352516994NBEAL2c.4144C>G (p.Pro1382Ala)
c.4042C>G (p.Pro1348Ala)
n.481C>G
c.2007C>G
c.616C>G (p.Pro206Ala)
c.4063C>G (p.Pro1355Ala)
c.4123C>G (p.Pro1375Ala)
c.3775C>G (p.Pro1259Ala)
c.3604C>G (p.Pro1202Ala)
c.3490C>G (p.Pro1164Ala)
c.3052C>G (p.Pro1018Ala)
n.4320C>G
3g.47000243C>TCA352516995NBEAL2c.4144C>T (p.Pro1382Ser)
c.4042C>T (p.Pro1348Ser)
n.481C>T
c.2007C>T
c.616C>T (p.Pro206Ser)
c.4063C>T (p.Pro1355Ser)
c.4123C>T (p.Pro1375Ser)
c.3775C>T (p.Pro1259Ser)
c.3604C>T (p.Pro1202Ser)
c.3490C>T (p.Pro1164Ser)
c.3052C>T (p.Pro1018Ser)
n.4320C>T
 COSMIC COSMIC
3g.47000244C>ACA352516998NBEAL2c.4145C>A (p.Pro1382Gln)
c.4043C>A (p.Pro1348Gln)
n.482C>A
c.2008C>A
c.617C>A (p.Pro206Gln)
c.4064C>A (p.Pro1355Gln)
c.4124C>A (p.Pro1375Gln)
c.3776C>A (p.Pro1259Gln)
c.3605C>A (p.Pro1202Gln)
c.3491C>A (p.Pro1164Gln)
c.3053C>A (p.Pro1018Gln)
n.4321C>A
3g.47000244C=CA1362363087NBEAL2c.4145C= (p.Pro1382=)
c.4043C= (p.Pro1348=)
n.482C=
c.2008C=
c.617C= (p.Pro206=)
c.4064C= (p.Pro1355=)
c.4124C= (p.Pro1375=)
c.3776C= (p.Pro1259=)
c.3605C= (p.Pro1202=)
c.3491C= (p.Pro1164=)
c.3053C= (p.Pro1018=)
n.4321C=
3g.47000244C>GCA352516996NBEAL2c.4145C>G (p.Pro1382Arg)
c.4043C>G (p.Pro1348Arg)
n.482C>G
c.2008C>G
c.617C>G (p.Pro206Arg)
c.4064C>G (p.Pro1355Arg)
c.4124C>G (p.Pro1375Arg)
c.3776C>G (p.Pro1259Arg)
c.3605C>G (p.Pro1202Arg)
c.3491C>G (p.Pro1164Arg)
c.3053C>G (p.Pro1018Arg)
n.4321C>G
3g.47000244C>TCA352516997NBEAL2c.4145C>T (p.Pro1382Leu)
c.4043C>T (p.Pro1348Leu)
n.482C>T
c.2008C>T
c.617C>T (p.Pro206Leu)
c.4064C>T (p.Pro1355Leu)
c.4124C>T (p.Pro1375Leu)
c.3776C>T (p.Pro1259Leu)
c.3605C>T (p.Pro1202Leu)
c.3491C>T (p.Pro1164Leu)
c.3053C>T (p.Pro1018Leu)
n.4321C>T
 dbSNP gnomAD v2 gnomAD v4
3g.47000245A>CCA433598292NBEAL2c.4146A>C (p.Pro1382=)
c.4044A>C (p.Pro1348=)
c.2009A>C
c.618A>C (p.Pro206=)
c.4065A>C (p.Pro1355=)
c.4125A>C (p.Pro1375=)
c.3777A>C (p.Pro1259=)
c.3606A>C (p.Pro1202=)
c.3492A>C (p.Pro1164=)
c.3054A>C (p.Pro1018=)
n.4322A>C
3g.47000245A>GCA433598293NBEAL2c.4146A>G (p.Pro1382=)
c.4044A>G (p.Pro1348=)
c.2009A>G
c.618A>G (p.Pro206=)
c.4065A>G (p.Pro1355=)
c.4125A>G (p.Pro1375=)
c.3777A>G (p.Pro1259=)
c.3606A>G (p.Pro1202=)
c.3492A>G (p.Pro1164=)
c.3054A>G (p.Pro1018=)
n.4322A>G
3g.47000245A>TCA433598294NBEAL2c.4146A>T (p.Pro1382=)
c.4044A>T (p.Pro1348=)
c.2009A>T
c.618A>T (p.Pro206=)
c.4065A>T (p.Pro1355=)
c.4125A>T (p.Pro1375=)
c.3777A>T (p.Pro1259=)
c.3606A>T (p.Pro1202=)
c.3492A>T (p.Pro1164=)
c.3054A>T (p.Pro1018=)
n.4322A>T
3g.47000246G>ACA352516999NBEAL2c.4147G>A (p.Ala1383Thr)
c.4045G>A (p.Ala1349Thr)
c.2010G>A
c.619G>A (p.Ala207Thr)
c.4066G>A (p.Ala1356Thr)
c.4126G>A (p.Ala1376Thr)
c.3778G>A (p.Ala1260Thr)
c.3607G>A (p.Ala1203Thr)
c.3493G>A (p.Ala1165Thr)
c.3055G>A (p.Ala1019Thr)
n.4323G>A
3g.47000246G>CCA352517000NBEAL2c.4147G>C (p.Ala1383Pro)
c.4045G>C (p.Ala1349Pro)
c.2010G>C
c.619G>C (p.Ala207Pro)
c.4066G>C (p.Ala1356Pro)
c.4126G>C (p.Ala1376Pro)
c.3778G>C (p.Ala1260Pro)
c.3607G>C (p.Ala1203Pro)
c.3493G>C (p.Ala1165Pro)
c.3055G>C (p.Ala1019Pro)
n.4323G>C
3g.47000246G>TCA352517001NBEAL2c.4147G>T (p.Ala1383Ser)
c.4045G>T (p.Ala1349Ser)
c.2010G>T
c.619G>T (p.Ala207Ser)
c.4066G>T (p.Ala1356Ser)
c.4126G>T (p.Ala1376Ser)
c.3778G>T (p.Ala1260Ser)
c.3607G>T (p.Ala1203Ser)
c.3493G>T (p.Ala1165Ser)
c.3055G>T (p.Ala1019Ser)
n.4323G>T
3g.47000247C>ACA352517002NBEAL2c.4148C>A (p.Ala1383Asp)
c.4046C>A (p.Ala1349Asp)
c.2011C>A
c.620C>A (p.Ala207Asp)
c.4067C>A (p.Ala1356Asp)
c.4127C>A (p.Ala1376Asp)
c.3779C>A (p.Ala1260Asp)
c.3608C>A (p.Ala1203Asp)
c.3494C>A (p.Ala1165Asp)
c.3056C>A (p.Ala1019Asp)
n.4324C>A
3g.47000247C>GCA352517003NBEAL2c.4148C>G (p.Ala1383Gly)
c.4046C>G (p.Ala1349Gly)
c.2011C>G
c.620C>G (p.Ala207Gly)
c.4067C>G (p.Ala1356Gly)
c.4127C>G (p.Ala1376Gly)
c.3779C>G (p.Ala1260Gly)
c.3608C>G (p.Ala1203Gly)
c.3494C>G (p.Ala1165Gly)
c.3056C>G (p.Ala1019Gly)
n.4324C>G
3g.47000247C>TCA352517004NBEAL2c.4148C>T (p.Ala1383Val)
c.4046C>T (p.Ala1349Val)
c.2011C>T
c.620C>T (p.Ala207Val)
c.4067C>T (p.Ala1356Val)
c.4127C>T (p.Ala1376Val)
c.3779C>T (p.Ala1260Val)
c.3608C>T (p.Ala1203Val)
c.3494C>T (p.Ala1165Val)
c.3056C>T (p.Ala1019Val)
n.4324C>T
3g.47000247_47000248insACA2665493247NBEAL2c.4148_4149insA (p.Ser1384GlnfsTer?)
c.4046_4047insA (p.Ser1350GlnfsTer?)
c.2011_2012insA
c.620_621insA (p.Ser208GlnfsTer?)
c.4067_4068insA (p.Ser1357GlnfsTer?)
c.4127_4128insA (p.Ser1377GlnfsTer?)
c.3779_3780insA (p.Ser1261GlnfsTer?)
c.3608_3609insA (p.Ser1204GlnfsTer?)
c.3494_3495insA (p.Ser1166GlnfsTer?)
c.3056_3057insA (p.Ser1020GlnfsTer?)
n.4324_4325insA
 gnomAD v4
3g.47000248C>ACA433598295NBEAL2c.4149C>A (p.Ala1383=)
c.4047C>A (p.Ala1349=)
c.2012C>A
c.621C>A (p.Ala207=)
c.4068C>A (p.Ala1356=)
c.4128C>A (p.Ala1376=)
c.3780C>A (p.Ala1260=)
c.3609C>A (p.Ala1203=)
c.3495C>A (p.Ala1165=)
c.3057C>A (p.Ala1019=)
n.4325C>A
3g.47000248C>GCA433598296NBEAL2c.4149C>G (p.Ala1383=)
c.4047C>G (p.Ala1349=)
c.2012C>G
c.621C>G (p.Ala207=)
c.4068C>G (p.Ala1356=)
c.4128C>G (p.Ala1376=)
c.3780C>G (p.Ala1260=)
c.3609C>G (p.Ala1203=)
c.3495C>G (p.Ala1165=)
c.3057C>G (p.Ala1019=)
n.4325C>G
3g.47000248C>TCA433598297NBEAL2c.4149C>T (p.Ala1383=)
c.4047C>T (p.Ala1349=)
c.2012C>T
c.621C>T (p.Ala207=)
c.4068C>T (p.Ala1356=)
c.4128C>T (p.Ala1376=)
c.3780C>T (p.Ala1260=)
c.3609C>T (p.Ala1203=)
c.3495C>T (p.Ala1165=)
c.3057C>T (p.Ala1019=)
n.4325C>T
3g.47000249A>CCA352517005NBEAL2c.4150A>C (p.Ser1384Arg)
c.4048A>C (p.Ser1350Arg)
c.2013A>C
c.622A>C (p.Ser208Arg)
c.4069A>C (p.Ser1357Arg)
c.4129A>C (p.Ser1377Arg)
c.3781A>C (p.Ser1261Arg)
c.3610A>C (p.Ser1204Arg)
c.3496A>C (p.Ser1166Arg)
c.3058A>C (p.Ser1020Arg)
n.4326A>C
3g.47000249A>GCA352517006NBEAL2c.4150A>G (p.Ser1384Gly)
c.4048A>G (p.Ser1350Gly)
c.2013A>G
c.622A>G (p.Ser208Gly)
c.4069A>G (p.Ser1357Gly)
c.4129A>G (p.Ser1377Gly)
c.3781A>G (p.Ser1261Gly)
c.3610A>G (p.Ser1204Gly)
c.3496A>G (p.Ser1166Gly)
c.3058A>G (p.Ser1020Gly)
n.4326A>G
3g.47000249A>TCA352517007NBEAL2c.4150A>T (p.Ser1384Cys)
c.4048A>T (p.Ser1350Cys)
c.2013A>T
c.622A>T (p.Ser208Cys)
c.4069A>T (p.Ser1357Cys)
c.4129A>T (p.Ser1377Cys)
c.3781A>T (p.Ser1261Cys)
c.3610A>T (p.Ser1204Cys)
c.3496A>T (p.Ser1166Cys)
c.3058A>T (p.Ser1020Cys)
n.4326A>T
3g.47000250G>ACA352517008NBEAL2c.4151G>A (p.Ser1384Asn)
c.4049G>A (p.Ser1350Asn)
c.2014G>A
c.623G>A (p.Ser208Asn)
c.4070G>A (p.Ser1357Asn)
c.4130G>A (p.Ser1377Asn)
c.3782G>A (p.Ser1261Asn)
c.3611G>A (p.Ser1204Asn)
c.3497G>A (p.Ser1166Asn)
c.3059G>A (p.Ser1020Asn)
n.4327G>A
3g.47000250G>CCA352517009NBEAL2c.4151G>C (p.Ser1384Thr)
c.4049G>C (p.Ser1350Thr)
c.2014G>C
c.623G>C (p.Ser208Thr)
c.4070G>C (p.Ser1357Thr)
c.4130G>C (p.Ser1377Thr)
c.3782G>C (p.Ser1261Thr)
c.3611G>C (p.Ser1204Thr)
c.3497G>C (p.Ser1166Thr)
c.3059G>C (p.Ser1020Thr)
n.4327G>C
3g.47000250G>TCA352517010NBEAL2c.4151G>T (p.Ser1384Ile)
c.4049G>T (p.Ser1350Ile)
c.2014G>T
c.623G>T (p.Ser208Ile)
c.4070G>T (p.Ser1357Ile)
c.4130G>T (p.Ser1377Ile)
c.3782G>T (p.Ser1261Ile)
c.3611G>T (p.Ser1204Ile)
c.3497G>T (p.Ser1166Ile)
c.3059G>T (p.Ser1020Ile)
n.4327G>T
3g.47000250_47000251insATCCTGCGCAGACTGCAGCAGAATGAGCGGCTACCTGAGCGGAGCCGCA2665493248NBEAL2c.4151_4152insATCCTGCGCAGACTGCAGCAGAATGAGCGGCTACCTGAGCGGAGCCG (p.Ser1384ArgfsTer?)
c.4049_4050insATCCTGCGCAGACTGCAGCAGAATGAGCGGCTACCTGAGCGGAGCCG (p.Ser1350ArgfsTer?)
c.2014_2015insATCCTGCGCAGACTGCAGCAGAATGAGCGGCTACCTGAGCGGAGCCG
c.623_624insATCCTGCGCAGACTGCAGCAGAATGAGCGGCTACCTGAGCGGAGCCG (p.Ser208ArgfsTer?)
c.4070_4071insATCCTGCGCAGACTGCAGCAGAATGAGCGGCTACCTGAGCGGAGCCG (p.Ser1357ArgfsTer?)
c.4130_4131insATCCTGCGCAGACTGCAGCAGAATGAGCGGCTACCTGAGCGGAGCCG (p.Ser1377ArgfsTer?)
c.3782_3783insATCCTGCGCAGACTGCAGCAGAATGAGCGGCTACCTGAGCGGAGCCG (p.Ser1261ArgfsTer?)
c.3611_3612insATCCTGCGCAGACTGCAGCAGAATGAGCGGCTACCTGAGCGGAGCCG (p.Ser1204ArgfsTer?)
c.3497_3498insATCCTGCGCAGACTGCAGCAGAATGAGCGGCTACCTGAGCGGAGCCG (p.Ser1166ArgfsTer?)
c.3059_3060insATCCTGCGCAGACTGCAGCAGAATGAGCGGCTACCTGAGCGGAGCCG (p.Ser1020ArgfsTer?)
n.4327_4328insATCCTGCGCAGACTGCAGCAGAATGAGCGGCTACCTGAGCGGAGCCG
 gnomAD v4
3g.47000251C>ACA352517011NBEAL2c.4152C>A (p.Ser1384Arg)
c.4050C>A (p.Ser1350Arg)
c.2015C>A
c.624C>A (p.Ser208Arg)
c.4071C>A (p.Ser1357Arg)
c.4131C>A (p.Ser1377Arg)
c.3783C>A (p.Ser1261Arg)
c.3612C>A (p.Ser1204Arg)
c.3498C>A (p.Ser1166Arg)
c.3060C>A (p.Ser1020Arg)
n.4328C>A
3g.47000251C>GCA352517012NBEAL2c.4152C>G (p.Ser1384Arg)
c.4050C>G (p.Ser1350Arg)
c.2015C>G
c.624C>G (p.Ser208Arg)
c.4071C>G (p.Ser1357Arg)
c.4131C>G (p.Ser1377Arg)
c.3783C>G (p.Ser1261Arg)
c.3612C>G (p.Ser1204Arg)
c.3498C>G (p.Ser1166Arg)
c.3060C>G (p.Ser1020Arg)
n.4328C>G
3g.47000251C>TCA433598298NBEAL2c.4152C>T (p.Ser1384=)
c.4050C>T (p.Ser1350=)
c.2015C>T
c.624C>T (p.Ser208=)
c.4071C>T (p.Ser1357=)
c.4131C>T (p.Ser1377=)
c.3783C>T (p.Ser1261=)
c.3612C>T (p.Ser1204=)
c.3498C>T (p.Ser1166=)
c.3060C>T (p.Ser1020=)
n.4328C>T
3g.47000252C>ACA352517013NBEAL2c.4153C>A (p.Gln1385Lys)
c.4051C>A (p.Gln1351Lys)
c.2016C>A
c.625C>A (p.Gln209Lys)
c.4072C>A (p.Gln1358Lys)
c.4132C>A (p.Gln1378Lys)
c.3784C>A (p.Gln1262Lys)
c.3613C>A (p.Gln1205Lys)
c.3499C>A (p.Gln1167Lys)
c.3061C>A (p.Gln1021Lys)
n.4329C>A
3g.47000252C>GCA352517015NBEAL2c.4153C>G (p.Gln1385Glu)
c.4051C>G (p.Gln1351Glu)
c.2016C>G
c.625C>G (p.Gln209Glu)
c.4072C>G (p.Gln1358Glu)
c.4132C>G (p.Gln1378Glu)
c.3784C>G (p.Gln1262Glu)
c.3613C>G (p.Gln1205Glu)
c.3499C>G (p.Gln1167Glu)
c.3061C>G (p.Gln1021Glu)
n.4329C>G
3g.47000252C>TCA352517014NBEAL2c.4153C>T (p.Gln1385Ter)
c.4051C>T (p.Gln1351Ter)
c.2016C>T
c.625C>T (p.Gln209Ter)
c.4072C>T (p.Gln1358Ter)
c.4132C>T (p.Gln1378Ter)
c.3784C>T (p.Gln1262Ter)
c.3613C>T (p.Gln1205Ter)
c.3499C>T (p.Gln1167Ter)
c.3061C>T (p.Gln1021Ter)
n.4329C>T
 gnomAD v4
3g.47000253A>CCA352517016NBEAL2c.4154A>C (p.Gln1385Pro)
c.4052A>C (p.Gln1351Pro)
c.2017A>C
c.626A>C (p.Gln209Pro)
c.4073A>C (p.Gln1358Pro)
c.4133A>C (p.Gln1378Pro)
c.3785A>C (p.Gln1262Pro)
c.3614A>C (p.Gln1205Pro)
c.3500A>C (p.Gln1167Pro)
c.3062A>C (p.Gln1021Pro)
n.4330A>C
3g.47000253A>GCA352517017NBEAL2c.4154A>G (p.Gln1385Arg)
c.4052A>G (p.Gln1351Arg)
c.2017A>G
c.626A>G (p.Gln209Arg)
c.4073A>G (p.Gln1358Arg)
c.4133A>G (p.Gln1378Arg)
c.3785A>G (p.Gln1262Arg)
c.3614A>G (p.Gln1205Arg)
c.3500A>G (p.Gln1167Arg)
c.3062A>G (p.Gln1021Arg)
n.4330A>G
3g.47000253A>TCA352517018NBEAL2c.4154A>T (p.Gln1385Leu)
c.4052A>T (p.Gln1351Leu)
c.2017A>T
c.626A>T (p.Gln209Leu)
c.4073A>T (p.Gln1358Leu)
c.4133A>T (p.Gln1378Leu)
c.3785A>T (p.Gln1262Leu)
c.3614A>T (p.Gln1205Leu)
c.3500A>T (p.Gln1167Leu)
c.3062A>T (p.Gln1021Leu)
n.4330A>T
3g.47000254G>ACA433598299NBEAL2c.4155G>A (p.Gln1385=)
c.4053G>A (p.Gln1351=)
c.2018G>A
c.627G>A (p.Gln209=)
c.4074G>A (p.Gln1358=)
c.4134G>A (p.Gln1378=)
c.3786G>A (p.Gln1262=)
c.3615G>A (p.Gln1205=)
c.3501G>A (p.Gln1167=)
c.3063G>A (p.Gln1021=)
n.4331G>A
3g.47000254G>CCA352517019NBEAL2c.4155G>C (p.Gln1385His)
c.4053G>C (p.Gln1351His)
c.2018G>C
c.627G>C (p.Gln209His)
c.4074G>C (p.Gln1358His)
c.4134G>C (p.Gln1378His)
c.3786G>C (p.Gln1262His)
c.3615G>C (p.Gln1205His)
c.3501G>C (p.Gln1167His)
c.3063G>C (p.Gln1021His)
n.4331G>C
3g.47000254G>TCA352517020NBEAL2c.4155G>T (p.Gln1385His)
c.4053G>T (p.Gln1351His)
c.2018G>T
c.627G>T (p.Gln209His)
c.4074G>T (p.Gln1358His)
c.4134G>T (p.Gln1378His)
c.3786G>T (p.Gln1262His)
c.3615G>T (p.Gln1205His)
c.3501G>T (p.Gln1167His)
c.3063G>T (p.Gln1021His)
n.4331G>T
3g.47000255C>ACA352517021NBEAL2c.4156C>A (p.Pro1386Thr)
c.4054C>A (p.Pro1352Thr)
c.2019C>A
c.628C>A (p.Pro210Thr)
c.4075C>A (p.Pro1359Thr)
c.4135C>A (p.Pro1379Thr)
c.3787C>A (p.Pro1263Thr)
c.3616C>A (p.Pro1206Thr)
c.3502C>A (p.Pro1168Thr)
c.3064C>A (p.Pro1022Thr)
n.4332C>A
3g.47000255C=CA1362363088NBEAL2c.4156C= (p.Pro1386=)
c.4054C= (p.Pro1352=)
c.2019C=
c.628C= (p.Pro210=)
c.4075C= (p.Pro1359=)
c.4135C= (p.Pro1379=)
c.3787C= (p.Pro1263=)
c.3616C= (p.Pro1206=)
c.3502C= (p.Pro1168=)
c.3064C= (p.Pro1022=)
n.4332C=
3g.47000255C>GCA352517022NBEAL2c.4156C>G (p.Pro1386Ala)
c.4054C>G (p.Pro1352Ala)
c.2019C>G
c.628C>G (p.Pro210Ala)
c.4075C>G (p.Pro1359Ala)
c.4135C>G (p.Pro1379Ala)
c.3787C>G (p.Pro1263Ala)
c.3616C>G (p.Pro1206Ala)
c.3502C>G (p.Pro1168Ala)
c.3064C>G (p.Pro1022Ala)
n.4332C>G
3g.47000255C>TCA2361153NBEAL2c.4156C>T (p.Pro1386Ser)
c.4054C>T (p.Pro1352Ser)
c.2019C>T
c.628C>T (p.Pro210Ser)
c.4075C>T (p.Pro1359Ser)
c.4135C>T (p.Pro1379Ser)
c.3787C>T (p.Pro1263Ser)
c.3616C>T (p.Pro1206Ser)
c.3502C>T (p.Pro1168Ser)
c.3064C>T (p.Pro1022Ser)
n.4332C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.47000256C>ACA352517023NBEAL2c.4157C>A (p.Pro1386His)
c.4055C>A (p.Pro1352His)
c.2020C>A
c.629C>A (p.Pro210His)
c.4076C>A (p.Pro1359His)
c.4136C>A (p.Pro1379His)
c.3788C>A (p.Pro1263His)
c.3617C>A (p.Pro1206His)
c.3503C>A (p.Pro1168His)
c.3065C>A (p.Pro1022His)
n.4333C>A
3g.47000256C=CA1362363089NBEAL2c.4157C= (p.Pro1386=)
c.4055C= (p.Pro1352=)
c.2020C=
c.629C= (p.Pro210=)
c.4076C= (p.Pro1359=)
c.4136C= (p.Pro1379=)
c.3788C= (p.Pro1263=)
c.3617C= (p.Pro1206=)
c.3503C= (p.Pro1168=)
c.3065C= (p.Pro1022=)
n.4333C=
3g.47000256C>GCA352517024NBEAL2c.4157C>G (p.Pro1386Arg)
c.4055C>G (p.Pro1352Arg)
c.2020C>G
c.629C>G (p.Pro210Arg)
c.4076C>G (p.Pro1359Arg)
c.4136C>G (p.Pro1379Arg)
c.3788C>G (p.Pro1263Arg)
c.3617C>G (p.Pro1206Arg)
c.3503C>G (p.Pro1168Arg)
c.3065C>G (p.Pro1022Arg)
n.4333C>G
3g.47000256C>TCA352517025NBEAL2c.4157C>T (p.Pro1386Leu)
c.4055C>T (p.Pro1352Leu)
c.2020C>T
c.629C>T (p.Pro210Leu)
c.4076C>T (p.Pro1359Leu)
c.4136C>T (p.Pro1379Leu)
c.3788C>T (p.Pro1263Leu)
c.3617C>T (p.Pro1206Leu)
c.3503C>T (p.Pro1168Leu)
c.3065C>T (p.Pro1022Leu)
n.4333C>T
 dbSNP
3g.47000257C>ACA2361155NBEAL2c.4158C>A (p.Pro1386=)
c.4056C>A (p.Pro1352=)
c.2021C>A
c.630C>A (p.Pro210=)
c.4077C>A (p.Pro1359=)
c.4137C>A (p.Pro1379=)
c.3789C>A (p.Pro1263=)
c.3618C>A (p.Pro1206=)
c.3504C>A (p.Pro1168=)
c.3066C>A (p.Pro1022=)
n.4334C>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.47000257C=CA1362363090NBEAL2c.4158C= (p.Pro1386=)
c.4056C= (p.Pro1352=)
c.2021C=
c.630C= (p.Pro210=)
c.4077C= (p.Pro1359=)
c.4137C= (p.Pro1379=)
c.3789C= (p.Pro1263=)
c.3618C= (p.Pro1206=)
c.3504C= (p.Pro1168=)
c.3066C= (p.Pro1022=)
n.4334C=
3g.47000257C>GCA433598300NBEAL2c.4158C>G (p.Pro1386=)
c.4056C>G (p.Pro1352=)
c.2021C>G
c.630C>G (p.Pro210=)
c.4077C>G (p.Pro1359=)
c.4137C>G (p.Pro1379=)
c.3789C>G (p.Pro1263=)
c.3618C>G (p.Pro1206=)
c.3504C>G (p.Pro1168=)
c.3066C>G (p.Pro1022=)
n.4334C>G
 gnomAD v4
3g.47000257C>TCA2361154NBEAL2c.4158C>T (p.Pro1386=)
c.4056C>T (p.Pro1352=)
c.2021C>T
c.630C>T (p.Pro210=)
c.4077C>T (p.Pro1359=)
c.4137C>T (p.Pro1379=)
c.3789C>T (p.Pro1263=)
c.3618C>T (p.Pro1206=)
c.3504C>T (p.Pro1168=)
c.3066C>T (p.Pro1022=)
n.4334C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.47000258G>ACA2361156NBEAL2c.4159G>A (p.Gly1387Ser)
c.4057G>A (p.Gly1353Ser)
c.2022G>A
c.631G>A (p.Gly211Ser)
c.4078G>A (p.Gly1360Ser)
c.4138G>A (p.Gly1380Ser)
c.3790G>A (p.Gly1264Ser)
c.3619G>A (p.Gly1207Ser)
c.3505G>A (p.Gly1169Ser)
c.3067G>A (p.Gly1023Ser)
n.4335G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.47000258G>CCA352517027NBEAL2c.4159G>C (p.Gly1387Arg)
c.4057G>C (p.Gly1353Arg)
c.2022G>C
c.631G>C (p.Gly211Arg)
c.4078G>C (p.Gly1360Arg)
c.4138G>C (p.Gly1380Arg)
c.3790G>C (p.Gly1264Arg)
c.3619G>C (p.Gly1207Arg)
c.3505G>C (p.Gly1169Arg)
c.3067G>C (p.Gly1023Arg)
n.4335G>C
 gnomAD v4
3g.47000258G=CA1362363091NBEAL2c.4159G= (p.Gly1387=)
c.4057G= (p.Gly1353=)
c.2022G=
c.631G= (p.Gly211=)
c.4078G= (p.Gly1360=)
c.4138G= (p.Gly1380=)
c.3790G= (p.Gly1264=)
c.3619G= (p.Gly1207=)
c.3505G= (p.Gly1169=)
c.3067G= (p.Gly1023=)
n.4335G=
3g.47000258G>TCA352517026NBEAL2c.4159G>T (p.Gly1387Cys)
c.4057G>T (p.Gly1353Cys)
c.2022G>T
c.631G>T (p.Gly211Cys)
c.4078G>T (p.Gly1360Cys)
c.4138G>T (p.Gly1380Cys)
c.3790G>T (p.Gly1264Cys)
c.3619G>T (p.Gly1207Cys)
c.3505G>T (p.Gly1169Cys)
c.3067G>T (p.Gly1023Cys)
n.4335G>T
 COSMIC COSMIC
3g.47000259G>ACA352517028NBEAL2c.4160G>A (p.Gly1387Asp)
c.4058G>A (p.Gly1353Asp)
c.2023G>A
c.632G>A (p.Gly211Asp)
c.4079G>A (p.Gly1360Asp)
c.4139G>A (p.Gly1380Asp)
c.3791G>A (p.Gly1264Asp)
c.3620G>A (p.Gly1207Asp)
c.3506G>A (p.Gly1169Asp)
c.3068G>A (p.Gly1023Asp)
n.4336G>A
3g.47000259G>CCA352517029NBEAL2c.4160G>C (p.Gly1387Ala)
c.4058G>C (p.Gly1353Ala)
c.2023G>C
c.632G>C (p.Gly211Ala)
c.4079G>C (p.Gly1360Ala)
c.4139G>C (p.Gly1380Ala)
c.3791G>C (p.Gly1264Ala)
c.3620G>C (p.Gly1207Ala)
c.3506G>C (p.Gly1169Ala)
c.3068G>C (p.Gly1023Ala)
n.4336G>C
3g.47000259G>TCA352517030NBEAL2c.4160G>T (p.Gly1387Val)
c.4058G>T (p.Gly1353Val)
c.2023G>T
c.632G>T (p.Gly211Val)
c.4079G>T (p.Gly1360Val)
c.4139G>T (p.Gly1380Val)
c.3791G>T (p.Gly1264Val)
c.3620G>T (p.Gly1207Val)
c.3506G>T (p.Gly1169Val)
c.3068G>T (p.Gly1023Val)
n.4336G>T
3g.47000260C>ACA433598301NBEAL2c.4161C>A (p.Gly1387=)
c.4059C>A (p.Gly1353=)
c.2024C>A
c.633C>A (p.Gly211=)
c.4080C>A (p.Gly1360=)
c.4140C>A (p.Gly1380=)
c.3792C>A (p.Gly1264=)
c.3621C>A (p.Gly1207=)
c.3507C>A (p.Gly1169=)
c.3069C>A (p.Gly1023=)
n.4337C>A
3g.47000260C=CA1362363092NBEAL2c.4161C= (p.Gly1387=)
c.4059C= (p.Gly1353=)
c.2024C=
c.633C= (p.Gly211=)
c.4080C= (p.Gly1360=)
c.4140C= (p.Gly1380=)
c.3792C= (p.Gly1264=)
c.3621C= (p.Gly1207=)
c.3507C= (p.Gly1169=)
c.3069C= (p.Gly1023=)
n.4337C=
3g.47000260C>GCA433598302NBEAL2c.4161C>G (p.Gly1387=)
c.4059C>G (p.Gly1353=)
c.2024C>G
c.633C>G (p.Gly211=)
c.4080C>G (p.Gly1360=)
c.4140C>G (p.Gly1380=)
c.3792C>G (p.Gly1264=)
c.3621C>G (p.Gly1207=)
c.3507C>G (p.Gly1169=)
c.3069C>G (p.Gly1023=)
n.4337C>G
3g.47000260C>TCA2361157NBEAL2c.4161C>T (p.Gly1387=)
c.4059C>T (p.Gly1353=)
c.2024C>T
c.633C>T (p.Gly211=)
c.4080C>T (p.Gly1360=)
c.4140C>T (p.Gly1380=)
c.3792C>T (p.Gly1264=)
c.3621C>T (p.Gly1207=)
c.3507C>T (p.Gly1169=)
c.3069C>T (p.Gly1023=)
n.4337C>T
 dbSNP ExAC gnomAD v2
3g.47000261A>CCA352517031NBEAL2c.4162A>C (p.Thr1388Pro)
c.4060A>C (p.Thr1354Pro)
c.2025A>C
c.634A>C (p.Thr212Pro)
c.4081A>C (p.Thr1361Pro)
c.4141A>C (p.Thr1381Pro)
c.3793A>C (p.Thr1265Pro)
c.3622A>C (p.Thr1208Pro)
c.3508A>C (p.Thr1170Pro)
c.3070A>C (p.Thr1024Pro)
n.4338A>C
3g.47000261A>GCA352517032NBEAL2c.4162A>G (p.Thr1388Ala)
c.4060A>G (p.Thr1354Ala)
c.2025A>G
c.634A>G (p.Thr212Ala)
c.4081A>G (p.Thr1361Ala)
c.4141A>G (p.Thr1381Ala)
c.3793A>G (p.Thr1265Ala)
c.3622A>G (p.Thr1208Ala)
c.3508A>G (p.Thr1170Ala)
c.3070A>G (p.Thr1024Ala)
n.4338A>G
3g.47000261A>TCA352517033NBEAL2c.4162A>T (p.Thr1388Ser)
c.4060A>T (p.Thr1354Ser)
c.2025A>T
c.634A>T (p.Thr212Ser)
c.4081A>T (p.Thr1361Ser)
c.4141A>T (p.Thr1381Ser)
c.3793A>T (p.Thr1265Ser)
c.3622A>T (p.Thr1208Ser)
c.3508A>T (p.Thr1170Ser)
c.3070A>T (p.Thr1024Ser)
n.4338A>T
3g.47000262C>ACA352517034NBEAL2c.4163C>A (p.Thr1388Asn)
c.4061C>A (p.Thr1354Asn)
c.2026C>A
c.635C>A (p.Thr212Asn)
c.4082C>A (p.Thr1361Asn)
c.4142C>A (p.Thr1381Asn)
c.3794C>A (p.Thr1265Asn)
c.3623C>A (p.Thr1208Asn)
c.3509C>A (p.Thr1170Asn)
c.3071C>A (p.Thr1024Asn)
n.4339C>A
3g.47000262C=CA1362363093NBEAL2c.4163C= (p.Thr1388=)
c.4061C= (p.Thr1354=)
c.2026C=
c.635C= (p.Thr212=)
c.4082C= (p.Thr1361=)
c.4142C= (p.Thr1381=)
c.3794C= (p.Thr1265=)
c.3623C= (p.Thr1208=)
c.3509C= (p.Thr1170=)
c.3071C= (p.Thr1024=)
n.4339C=
3g.47000262C>GCA352517035NBEAL2c.4163C>G (p.Thr1388Ser)
c.4061C>G (p.Thr1354Ser)
c.2026C>G
c.635C>G (p.Thr212Ser)
c.4082C>G (p.Thr1361Ser)
c.4142C>G (p.Thr1381Ser)
c.3794C>G (p.Thr1265Ser)
c.3623C>G (p.Thr1208Ser)
c.3509C>G (p.Thr1170Ser)
c.3071C>G (p.Thr1024Ser)
n.4339C>G
3g.47000262C>TCA2361158NBEAL2c.4163C>T (p.Thr1388Ile)
c.4061C>T (p.Thr1354Ile)
c.2026C>T
c.635C>T (p.Thr212Ile)
c.4082C>T (p.Thr1361Ile)
c.4142C>T (p.Thr1381Ile)
c.3794C>T (p.Thr1265Ile)
c.3623C>T (p.Thr1208Ile)
c.3509C>T (p.Thr1170Ile)
c.3071C>T (p.Thr1024Ile)
n.4339C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.47000263T>ACA433598305NBEAL2c.4164T>A (p.Thr1388=)
c.4062T>A (p.Thr1354=)
c.2027T>A
c.636T>A (p.Thr212=)
c.4083T>A (p.Thr1361=)
c.4143T>A (p.Thr1381=)
c.3795T>A (p.Thr1265=)
c.3624T>A (p.Thr1208=)
c.3510T>A (p.Thr1170=)
c.3072T>A (p.Thr1024=)
n.4340T>A
3g.47000263T>CCA433598303NBEAL2c.4164T>C (p.Thr1388=)
c.4062T>C (p.Thr1354=)
c.2027T>C
c.636T>C (p.Thr212=)
c.4083T>C (p.Thr1361=)
c.4143T>C (p.Thr1381=)
c.3795T>C (p.Thr1265=)
c.3624T>C (p.Thr1208=)
c.3510T>C (p.Thr1170=)
c.3072T>C (p.Thr1024=)
n.4340T>C
3g.47000263T>GCA433598304NBEAL2c.4164T>G (p.Thr1388=)
c.4062T>G (p.Thr1354=)
c.2027T>G
c.636T>G (p.Thr212=)
c.4083T>G (p.Thr1361=)
c.4143T>G (p.Thr1381=)
c.3795T>G (p.Thr1265=)
c.3624T>G (p.Thr1208=)
c.3510T>G (p.Thr1170=)
c.3072T>G (p.Thr1024=)
n.4340T>G
3g.47000264C>ACA352517038NBEAL2c.4165C>A (p.Pro1389Thr)
c.4063C>A (p.Pro1355Thr)
c.2028C>A
c.637C>A (p.Pro213Thr)
c.4084C>A (p.Pro1362Thr)
c.4144C>A (p.Pro1382Thr)
c.3796C>A (p.Pro1266Thr)
c.3625C>A (p.Pro1209Thr)
c.3511C>A (p.Pro1171Thr)
c.3073C>A (p.Pro1025Thr)
n.4341C>A
3g.47000264C=CA1362363094NBEAL2c.4165C= (p.Pro1389=)
c.4063C= (p.Pro1355=)
c.2028C=
c.637C= (p.Pro213=)
c.4084C= (p.Pro1362=)
c.4144C= (p.Pro1382=)
c.3796C= (p.Pro1266=)
c.3625C= (p.Pro1209=)
c.3511C= (p.Pro1171=)
c.3073C= (p.Pro1025=)
n.4341C=
3g.47000264C>GCA352517037NBEAL2c.4165C>G (p.Pro1389Ala)
c.4063C>G (p.Pro1355Ala)
c.2028C>G
c.637C>G (p.Pro213Ala)
c.4084C>G (p.Pro1362Ala)
c.4144C>G (p.Pro1382Ala)
c.3796C>G (p.Pro1266Ala)
c.3625C>G (p.Pro1209Ala)
c.3511C>G (p.Pro1171Ala)
c.3073C>G (p.Pro1025Ala)
n.4341C>G
 gnomAD v4
3g.47000264C>TCA352517036NBEAL2c.4165C>T (p.Pro1389Ser)
c.4063C>T (p.Pro1355Ser)
c.2028C>T
c.637C>T (p.Pro213Ser)
c.4084C>T (p.Pro1362Ser)
c.4144C>T (p.Pro1382Ser)
c.3796C>T (p.Pro1266Ser)
c.3625C>T (p.Pro1209Ser)
c.3511C>T (p.Pro1171Ser)
c.3073C>T (p.Pro1025Ser)
n.4341C>T
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
3g.47000265C>ACA352517039NBEAL2c.4166C>A (p.Pro1389His)
c.4064C>A (p.Pro1355His)
c.2029C>A
c.638C>A (p.Pro213His)
c.4085C>A (p.Pro1362His)
c.4145C>A (p.Pro1382His)
c.3797C>A (p.Pro1266His)
c.3626C>A (p.Pro1209His)
c.3512C>A (p.Pro1171His)
c.3074C>A (p.Pro1025His)
n.4342C>A
3g.47000265C>GCA352517040NBEAL2c.4166C>G (p.Pro1389Arg)
c.4064C>G (p.Pro1355Arg)
c.2029C>G
c.638C>G (p.Pro213Arg)
c.4085C>G (p.Pro1362Arg)
c.4145C>G (p.Pro1382Arg)
c.3797C>G (p.Pro1266Arg)
c.3626C>G (p.Pro1209Arg)
c.3512C>G (p.Pro1171Arg)
c.3074C>G (p.Pro1025Arg)
n.4342C>G
3g.47000265C>TCA352517041NBEAL2c.4166C>T (p.Pro1389Leu)
c.4064C>T (p.Pro1355Leu)
c.2029C>T
c.638C>T (p.Pro213Leu)
c.4085C>T (p.Pro1362Leu)
c.4145C>T (p.Pro1382Leu)
c.3797C>T (p.Pro1266Leu)
c.3626C>T (p.Pro1209Leu)
c.3512C>T (p.Pro1171Leu)
c.3074C>T (p.Pro1025Leu)
n.4342C>T
3g.47000266T>ACA433598309NBEAL2c.4167T>A (p.Pro1389=)
c.4065T>A (p.Pro1355=)
c.2030T>A
c.639T>A (p.Pro213=)
c.4086T>A (p.Pro1362=)
c.4146T>A (p.Pro1382=)
c.3798T>A (p.Pro1266=)
c.3627T>A (p.Pro1209=)
c.3513T>A (p.Pro1171=)
c.3075T>A (p.Pro1025=)
n.4343T>A
3g.47000266T>CCA433598310NBEAL2c.4167T>C (p.Pro1389=)
c.4065T>C (p.Pro1355=)
c.2030T>C
c.639T>C (p.Pro213=)
c.4086T>C (p.Pro1362=)
c.4146T>C (p.Pro1382=)
c.3798T>C (p.Pro1266=)
c.3627T>C (p.Pro1209=)
c.3513T>C (p.Pro1171=)
c.3075T>C (p.Pro1025=)
n.4343T>C
3g.47000266T>GCA433598311NBEAL2c.4167T>G (p.Pro1389=)
c.4065T>G (p.Pro1355=)
c.2030T>G
c.639T>G (p.Pro213=)
c.4086T>G (p.Pro1362=)
c.4146T>G (p.Pro1382=)
c.3798T>G (p.Pro1266=)
c.3627T>G (p.Pro1209=)
c.3513T>G (p.Pro1171=)
c.3075T>G (p.Pro1025=)
n.4343T>G
3g.47000267T>ACA352517042NBEAL2c.4168T>A (p.Ser1390Thr)
c.4066T>A (p.Ser1356Thr)
c.2031T>A
c.640T>A (p.Ser214Thr)
c.4087T>A (p.Ser1363Thr)
c.4147T>A (p.Ser1383Thr)
c.3799T>A (p.Ser1267Thr)
c.3628T>A (p.Ser1210Thr)
c.3514T>A (p.Ser1172Thr)
c.3076T>A (p.Ser1026Thr)
n.4344T>A
3g.47000267T>CCA352517043NBEAL2c.4168T>C (p.Ser1390Pro)
c.4066T>C (p.Ser1356Pro)
c.2031T>C
c.640T>C (p.Ser214Pro)
c.4087T>C (p.Ser1363Pro)
c.4147T>C (p.Ser1383Pro)
c.3799T>C (p.Ser1267Pro)
c.3628T>C (p.Ser1210Pro)
c.3514T>C (p.Ser1172Pro)
c.3076T>C (p.Ser1026Pro)
n.4344T>C
3g.47000267T>GCA352517044NBEAL2c.4168T>G (p.Ser1390Ala)
c.4066T>G (p.Ser1356Ala)
c.2031T>G
c.640T>G (p.Ser214Ala)
c.4087T>G (p.Ser1363Ala)
c.4147T>G (p.Ser1383Ala)
c.3799T>G (p.Ser1267Ala)
c.3628T>G (p.Ser1210Ala)
c.3514T>G (p.Ser1172Ala)
c.3076T>G (p.Ser1026Ala)
n.4344T>G
 dbSNP
3g.47000268C>ACA352517045NBEAL2c.4169C>A (p.Ser1390Ter)
c.4067C>A (p.Ser1356Ter)
c.2032C>A
c.641C>A (p.Ser214Ter)
c.4088C>A (p.Ser1363Ter)
c.4148C>A (p.Ser1383Ter)
c.3800C>A (p.Ser1267Ter)
c.3629C>A (p.Ser1210Ter)
c.3515C>A (p.Ser1172Ter)
c.3077C>A (p.Ser1026Ter)
n.4345C>A
3g.47000268C=CA1362363095NBEAL2c.4169C= (p.Ser1390=)
c.4067C= (p.Ser1356=)
c.2032C=
c.641C= (p.Ser214=)
c.4088C= (p.Ser1363=)
c.4148C= (p.Ser1383=)
c.3800C= (p.Ser1267=)
c.3629C= (p.Ser1210=)
c.3515C= (p.Ser1172=)
c.3077C= (p.Ser1026=)
n.4345C=
3g.47000268C>GCA352517046NBEAL2c.4169C>G (p.Ser1390Trp)
c.4067C>G (p.Ser1356Trp)
c.2032C>G
c.641C>G (p.Ser214Trp)
c.4088C>G (p.Ser1363Trp)
c.4148C>G (p.Ser1383Trp)
c.3800C>G (p.Ser1267Trp)
c.3629C>G (p.Ser1210Trp)
c.3515C>G (p.Ser1172Trp)
c.3077C>G (p.Ser1026Trp)
n.4345C>G
3g.47000268C>TCA2361159NBEAL2c.4169C>T (p.Ser1390Leu)
c.4067C>T (p.Ser1356Leu)
c.2032C>T
c.641C>T (p.Ser214Leu)
c.4088C>T (p.Ser1363Leu)
c.4148C>T (p.Ser1383Leu)
c.3800C>T (p.Ser1267Leu)
c.3629C>T (p.Ser1210Leu)
c.3515C>T (p.Ser1172Leu)
c.3077C>T (p.Ser1026Leu)
n.4345C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.47000268_47000269insTCA1362363096NBEAL2c.4169_4170insT (p.Pro1391AlafsTer?)
c.4067_4068insT (p.Pro1357AlafsTer?)
c.2032_2033insT
c.641_642insT (p.Pro215AlafsTer?)
c.4088_4089insT (p.Pro1364AlafsTer?)
c.4148_4149insT (p.Pro1384AlafsTer?)
c.3800_3801insT (p.Pro1268AlafsTer?)
c.3629_3630insT (p.Pro1211AlafsTer?)
c.3515_3516insT (p.Pro1173AlafsTer?)
c.3077_3078insT (p.Pro1027AlafsTer?)
n.4345_4346insT
 dbSNP
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

Number of alleles fetched