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.46999921_46999923dupCA907614372NBEAL2c.3822_3824dup (p.Val1275_Arg1276insVal)
c.3720_3722dup (p.Val1241_Arg1242insVal)
n.159_161dup
c.1960-275_1960-273dup
c.294_296dup (p.Val99_Arg100insVal)
c.3741_3743dup (p.Val1248_Arg1249insVal)
c.3801_3803dup (p.Val1268_Arg1269insVal)
c.3453_3455dup (p.Val1152_Arg1153insVal)
c.3282_3284dup (p.Val1095_Arg1096insVal)
c.3168_3170dup (p.Val1057_Arg1058insVal)
c.2730_2732dup (p.Val911_Arg912insVal)
n.3998_4000dup
 dbSNP
3g.46999920T>ACA352515430NBEAL2c.3821T>A (p.Val1274Glu)
c.3719T>A (p.Val1240Glu)
n.158T>A
c.1960-276T>A
c.293T>A (p.Val98Glu)
c.3740T>A (p.Val1247Glu)
c.3800T>A (p.Val1267Glu)
c.3452T>A (p.Val1151Glu)
c.3281T>A (p.Val1094Glu)
c.3167T>A (p.Val1056Glu)
c.2729T>A (p.Val910Glu)
n.3997T>A
3g.46999920T>CCA352515431NBEAL2c.3821T>C (p.Val1274Ala)
c.3719T>C (p.Val1240Ala)
n.158T>C
c.1960-276T>C
c.293T>C (p.Val98Ala)
c.3740T>C (p.Val1247Ala)
c.3800T>C (p.Val1267Ala)
c.3452T>C (p.Val1151Ala)
c.3281T>C (p.Val1094Ala)
c.3167T>C (p.Val1056Ala)
c.2729T>C (p.Val910Ala)
n.3997T>C
3g.46999920T>GCA352515432NBEAL2c.3821T>G (p.Val1274Gly)
c.3719T>G (p.Val1240Gly)
n.158T>G
c.1960-276T>G
c.293T>G (p.Val98Gly)
c.3740T>G (p.Val1247Gly)
c.3800T>G (p.Val1267Gly)
c.3452T>G (p.Val1151Gly)
c.3281T>G (p.Val1094Gly)
c.3167T>G (p.Val1056Gly)
c.2729T>G (p.Val910Gly)
n.3997T>G
3g.46999921A>CCA433477119NBEAL2c.3822A>C (p.Val1274=)
c.3720A>C (p.Val1240=)
n.159A>C
c.1960-275A>C
c.294A>C (p.Val98=)
c.3741A>C (p.Val1247=)
c.3801A>C (p.Val1267=)
c.3453A>C (p.Val1151=)
c.3282A>C (p.Val1094=)
c.3168A>C (p.Val1056=)
c.2730A>C (p.Val910=)
n.3998A>C
3g.46999921A>GCA433477118NBEAL2c.3822A>G (p.Val1274=)
c.3720A>G (p.Val1240=)
n.159A>G
c.1960-275A>G
c.294A>G (p.Val98=)
c.3741A>G (p.Val1247=)
c.3801A>G (p.Val1267=)
c.3453A>G (p.Val1151=)
c.3282A>G (p.Val1094=)
c.3168A>G (p.Val1056=)
c.2730A>G (p.Val910=)
n.3998A>G
3g.46999921A>TCA433477117NBEAL2c.3822A>T (p.Val1274=)
c.3720A>T (p.Val1240=)
n.159A>T
c.1960-275A>T
c.294A>T (p.Val98=)
c.3741A>T (p.Val1247=)
c.3801A>T (p.Val1267=)
c.3453A>T (p.Val1151=)
c.3282A>T (p.Val1094=)
c.3168A>T (p.Val1056=)
c.2730A>T (p.Val910=)
n.3998A>T
3g.46999922G>ACA2361086NBEAL2c.3823G>A (p.Val1275Met)
c.3721G>A (p.Val1241Met)
n.160G>A
c.1960-274G>A
c.295G>A (p.Val99Met)
c.3742G>A (p.Val1248Met)
c.3802G>A (p.Val1268Met)
c.3454G>A (p.Val1152Met)
c.3283G>A (p.Val1095Met)
c.3169G>A (p.Val1057Met)
c.2731G>A (p.Val911Met)
n.3999G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.46999922G>CCA352515433NBEAL2c.3823G>C (p.Val1275Leu)
c.3721G>C (p.Val1241Leu)
n.160G>C
c.1960-274G>C
c.295G>C (p.Val99Leu)
c.3742G>C (p.Val1248Leu)
c.3802G>C (p.Val1268Leu)
c.3454G>C (p.Val1152Leu)
c.3283G>C (p.Val1095Leu)
c.3169G>C (p.Val1057Leu)
c.2731G>C (p.Val911Leu)
n.3999G>C
3g.46999922G=CA1362362927NBEAL2c.3823G= (p.Val1275=)
c.3721G= (p.Val1241=)
n.160G=
c.1960-274G=
c.295G= (p.Val99=)
c.3742G= (p.Val1248=)
c.3802G= (p.Val1268=)
c.3454G= (p.Val1152=)
c.3283G= (p.Val1095=)
c.3169G= (p.Val1057=)
c.2731G= (p.Val911=)
n.3999G=
3g.46999922G>TCA352515434NBEAL2c.3823G>T (p.Val1275Leu)
c.3721G>T (p.Val1241Leu)
n.160G>T
c.1960-274G>T
c.295G>T (p.Val99Leu)
c.3742G>T (p.Val1248Leu)
c.3802G>T (p.Val1268Leu)
c.3454G>T (p.Val1152Leu)
c.3283G>T (p.Val1095Leu)
c.3169G>T (p.Val1057Leu)
c.2731G>T (p.Val911Leu)
n.3999G>T
 gnomAD v4
3g.46999923T>ACA352515437NBEAL2c.3824T>A (p.Val1275Glu)
c.3722T>A (p.Val1241Glu)
n.161T>A
c.1960-273T>A
c.296T>A (p.Val99Glu)
c.3743T>A (p.Val1248Glu)
c.3803T>A (p.Val1268Glu)
c.3455T>A (p.Val1152Glu)
c.3284T>A (p.Val1095Glu)
c.3170T>A (p.Val1057Glu)
c.2732T>A (p.Val911Glu)
n.4000T>A
3g.46999923T>CCA352515435NBEAL2c.3824T>C (p.Val1275Ala)
c.3722T>C (p.Val1241Ala)
n.161T>C
c.1960-273T>C
c.296T>C (p.Val99Ala)
c.3743T>C (p.Val1248Ala)
c.3803T>C (p.Val1268Ala)
c.3455T>C (p.Val1152Ala)
c.3284T>C (p.Val1095Ala)
c.3170T>C (p.Val1057Ala)
c.2732T>C (p.Val911Ala)
n.4000T>C
3g.46999923T>GCA352515436NBEAL2c.3824T>G (p.Val1275Gly)
c.3722T>G (p.Val1241Gly)
n.161T>G
c.1960-273T>G
c.296T>G (p.Val99Gly)
c.3743T>G (p.Val1248Gly)
c.3803T>G (p.Val1268Gly)
c.3455T>G (p.Val1152Gly)
c.3284T>G (p.Val1095Gly)
c.3170T>G (p.Val1057Gly)
c.2732T>G (p.Val911Gly)
n.4000T>G
 COSMIC
3g.46999924G>ACA433477120NBEAL2c.3825G>A (p.Val1275=)
c.3723G>A (p.Val1241=)
n.162G>A
c.1960-272G>A
c.297G>A (p.Val99=)
c.3744G>A (p.Val1248=)
c.3804G>A (p.Val1268=)
c.3456G>A (p.Val1152=)
c.3285G>A (p.Val1095=)
c.3171G>A (p.Val1057=)
c.2733G>A (p.Val911=)
n.4001G>A
 dbSNP gnomAD v4
3g.46999924G>CCA433477122NBEAL2c.3825G>C (p.Val1275=)
c.3723G>C (p.Val1241=)
n.162G>C
c.1960-272G>C
c.297G>C (p.Val99=)
c.3744G>C (p.Val1248=)
c.3804G>C (p.Val1268=)
c.3456G>C (p.Val1152=)
c.3285G>C (p.Val1095=)
c.3171G>C (p.Val1057=)
c.2733G>C (p.Val911=)
n.4001G>C
3g.46999924G=CA1362362928NBEAL2c.3825G= (p.Val1275=)
c.3723G= (p.Val1241=)
n.162G=
c.1960-272G=
c.297G= (p.Val99=)
c.3744G= (p.Val1248=)
c.3804G= (p.Val1268=)
c.3456G= (p.Val1152=)
c.3285G= (p.Val1095=)
c.3171G= (p.Val1057=)
c.2733G= (p.Val911=)
n.4001G=
3g.46999924G>TCA433477121NBEAL2c.3825G>T (p.Val1275=)
c.3723G>T (p.Val1241=)
n.162G>T
c.1960-272G>T
c.297G>T (p.Val99=)
c.3744G>T (p.Val1248=)
c.3804G>T (p.Val1268=)
c.3456G>T (p.Val1152=)
c.3285G>T (p.Val1095=)
c.3171G>T (p.Val1057=)
c.2733G>T (p.Val911=)
n.4001G>T
3g.46999925C>ACA433477123NBEAL2c.3826C>A (p.Arg1276=)
c.3724C>A (p.Arg1242=)
n.163C>A
c.1960-271C>A
c.298C>A (p.Arg100=)
c.3745C>A (p.Arg1249=)
c.3805C>A (p.Arg1269=)
c.3457C>A (p.Arg1153=)
c.3286C>A (p.Arg1096=)
c.3172C>A (p.Arg1058=)
c.2734C>A (p.Arg912=)
n.4002C>A
3g.46999925C=CA1362362929NBEAL2c.3826C= (p.Arg1276=)
c.3724C= (p.Arg1242=)
n.163C=
c.1960-271C=
c.298C= (p.Arg100=)
c.3745C= (p.Arg1249=)
c.3805C= (p.Arg1269=)
c.3457C= (p.Arg1153=)
c.3286C= (p.Arg1096=)
c.3172C= (p.Arg1058=)
c.2734C= (p.Arg912=)
n.4002C=
3g.46999925C>GCA352515438NBEAL2c.3826C>G (p.Arg1276Gly)
c.3724C>G (p.Arg1242Gly)
n.163C>G
c.1960-271C>G
c.298C>G (p.Arg100Gly)
c.3745C>G (p.Arg1249Gly)
c.3805C>G (p.Arg1269Gly)
c.3457C>G (p.Arg1153Gly)
c.3286C>G (p.Arg1096Gly)
c.3172C>G (p.Arg1058Gly)
c.2734C>G (p.Arg912Gly)
n.4002C>G
 dbSNP
3g.46999925C>TCA2361087NBEAL2c.3826C>T (p.Arg1276Trp)
c.3724C>T (p.Arg1242Trp)
n.163C>T
c.1960-271C>T
c.298C>T (p.Arg100Trp)
c.3745C>T (p.Arg1249Trp)
c.3805C>T (p.Arg1269Trp)
c.3457C>T (p.Arg1153Trp)
c.3286C>T (p.Arg1096Trp)
c.3172C>T (p.Arg1058Trp)
c.2734C>T (p.Arg912Trp)
n.4002C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.46999926G>ACA2361088NBEAL2c.3827G>A (p.Arg1276Gln)
c.3725G>A (p.Arg1242Gln)
n.164G>A
c.1960-270G>A
c.299G>A (p.Arg100Gln)
c.3746G>A (p.Arg1249Gln)
c.3806G>A (p.Arg1269Gln)
c.3458G>A (p.Arg1153Gln)
c.3287G>A (p.Arg1096Gln)
c.3173G>A (p.Arg1058Gln)
c.2735G>A (p.Arg912Gln)
n.4003G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.46999926G>CCA352515439NBEAL2c.3827G>C (p.Arg1276Pro)
c.3725G>C (p.Arg1242Pro)
n.164G>C
c.1960-270G>C
c.299G>C (p.Arg100Pro)
c.3746G>C (p.Arg1249Pro)
c.3806G>C (p.Arg1269Pro)
c.3458G>C (p.Arg1153Pro)
c.3287G>C (p.Arg1096Pro)
c.3173G>C (p.Arg1058Pro)
c.2735G>C (p.Arg912Pro)
n.4003G>C
 dbSNP
3g.46999926G=CA1362362930NBEAL2c.3827G= (p.Arg1276=)
c.3725G= (p.Arg1242=)
n.164G=
c.1960-270G=
c.299G= (p.Arg100=)
c.3746G= (p.Arg1249=)
c.3806G= (p.Arg1269=)
c.3458G= (p.Arg1153=)
c.3287G= (p.Arg1096=)
c.3173G= (p.Arg1058=)
c.2735G= (p.Arg912=)
n.4003G=
3g.46999926G>TCA352515440NBEAL2c.3827G>T (p.Arg1276Leu)
c.3725G>T (p.Arg1242Leu)
n.164G>T
c.1960-270G>T
c.299G>T (p.Arg100Leu)
c.3746G>T (p.Arg1249Leu)
c.3806G>T (p.Arg1269Leu)
c.3458G>T (p.Arg1153Leu)
c.3287G>T (p.Arg1096Leu)
c.3173G>T (p.Arg1058Leu)
c.2735G>T (p.Arg912Leu)
n.4003G>T
3g.46999927G>ACA433477124NBEAL2c.3828G>A (p.Arg1276=)
c.3726G>A (p.Arg1242=)
n.165G>A
c.1960-269G>A
c.300G>A (p.Arg100=)
c.3747G>A (p.Arg1249=)
c.3807G>A (p.Arg1269=)
c.3459G>A (p.Arg1153=)
c.3288G>A (p.Arg1096=)
c.3174G>A (p.Arg1058=)
c.2736G>A (p.Arg912=)
n.4004G>A
3g.46999927G>CCA433477125NBEAL2c.3828G>C (p.Arg1276=)
c.3726G>C (p.Arg1242=)
n.165G>C
c.1960-269G>C
c.300G>C (p.Arg100=)
c.3747G>C (p.Arg1249=)
c.3807G>C (p.Arg1269=)
c.3459G>C (p.Arg1153=)
c.3288G>C (p.Arg1096=)
c.3174G>C (p.Arg1058=)
c.2736G>C (p.Arg912=)
n.4004G>C
3g.46999927G>TCA433477126NBEAL2c.3828G>T (p.Arg1276=)
c.3726G>T (p.Arg1242=)
n.165G>T
c.1960-269G>T
c.300G>T (p.Arg100=)
c.3747G>T (p.Arg1249=)
c.3807G>T (p.Arg1269=)
c.3459G>T (p.Arg1153=)
c.3288G>T (p.Arg1096=)
c.3174G>T (p.Arg1058=)
c.2736G>T (p.Arg912=)
n.4004G>T
3g.46999928C>ACA352515441NBEAL2c.3829C>A (p.Leu1277Ile)
c.3727C>A (p.Leu1243Ile)
n.166C>A
c.1960-268C>A
c.301C>A (p.Leu101Ile)
c.3748C>A (p.Leu1250Ile)
c.3808C>A (p.Leu1270Ile)
c.3460C>A (p.Leu1154Ile)
c.3289C>A (p.Leu1097Ile)
c.3175C>A (p.Leu1059Ile)
c.2737C>A (p.Leu913Ile)
n.4005C>A
3g.46999928C>GCA352515443NBEAL2c.3829C>G (p.Leu1277Val)
c.3727C>G (p.Leu1243Val)
n.166C>G
c.1960-268C>G
c.301C>G (p.Leu101Val)
c.3748C>G (p.Leu1250Val)
c.3808C>G (p.Leu1270Val)
c.3460C>G (p.Leu1154Val)
c.3289C>G (p.Leu1097Val)
c.3175C>G (p.Leu1059Val)
c.2737C>G (p.Leu913Val)
n.4005C>G
3g.46999928C>TCA352515442NBEAL2c.3829C>T (p.Leu1277Phe)
c.3727C>T (p.Leu1243Phe)
n.166C>T
c.1960-268C>T
c.301C>T (p.Leu101Phe)
c.3748C>T (p.Leu1250Phe)
c.3808C>T (p.Leu1270Phe)
c.3460C>T (p.Leu1154Phe)
c.3289C>T (p.Leu1097Phe)
c.3175C>T (p.Leu1059Phe)
c.2737C>T (p.Leu913Phe)
n.4005C>T
3g.46999929T>ACA352515444NBEAL2c.3830T>A (p.Leu1277His)
c.3728T>A (p.Leu1243His)
n.167T>A
c.1960-267T>A
c.302T>A (p.Leu101His)
c.3749T>A (p.Leu1250His)
c.3809T>A (p.Leu1270His)
c.3461T>A (p.Leu1154His)
c.3290T>A (p.Leu1097His)
c.3176T>A (p.Leu1059His)
c.2738T>A (p.Leu913His)
n.4006T>A
3g.46999929T>CCA352515445NBEAL2c.3830T>C (p.Leu1277Pro)
c.3728T>C (p.Leu1243Pro)
n.167T>C
c.1960-267T>C
c.302T>C (p.Leu101Pro)
c.3749T>C (p.Leu1250Pro)
c.3809T>C (p.Leu1270Pro)
c.3461T>C (p.Leu1154Pro)
c.3290T>C (p.Leu1097Pro)
c.3176T>C (p.Leu1059Pro)
c.2738T>C (p.Leu913Pro)
n.4006T>C
3g.46999929T>GCA352515446NBEAL2c.3830T>G (p.Leu1277Arg)
c.3728T>G (p.Leu1243Arg)
n.167T>G
c.1960-267T>G
c.302T>G (p.Leu101Arg)
c.3749T>G (p.Leu1250Arg)
c.3809T>G (p.Leu1270Arg)
c.3461T>G (p.Leu1154Arg)
c.3290T>G (p.Leu1097Arg)
c.3176T>G (p.Leu1059Arg)
c.2738T>G (p.Leu913Arg)
n.4006T>G
3g.46999930T>ACA433477127NBEAL2c.3831T>A (p.Leu1277=)
c.3729T>A (p.Leu1243=)
n.168T>A
c.1960-266T>A
c.303T>A (p.Leu101=)
c.3750T>A (p.Leu1250=)
c.3810T>A (p.Leu1270=)
c.3462T>A (p.Leu1154=)
c.3291T>A (p.Leu1097=)
c.3177T>A (p.Leu1059=)
c.2739T>A (p.Leu913=)
n.4007T>A
3g.46999930T>CCA433477128NBEAL2c.3831T>C (p.Leu1277=)
c.3729T>C (p.Leu1243=)
n.168T>C
c.1960-266T>C
c.303T>C (p.Leu101=)
c.3750T>C (p.Leu1250=)
c.3810T>C (p.Leu1270=)
c.3462T>C (p.Leu1154=)
c.3291T>C (p.Leu1097=)
c.3177T>C (p.Leu1059=)
c.2739T>C (p.Leu913=)
n.4007T>C
3g.46999930T>GCA433477129NBEAL2c.3831T>G (p.Leu1277=)
c.3729T>G (p.Leu1243=)
n.168T>G
c.1960-266T>G
c.303T>G (p.Leu101=)
c.3750T>G (p.Leu1250=)
c.3810T>G (p.Leu1270=)
c.3462T>G (p.Leu1154=)
c.3291T>G (p.Leu1097=)
c.3177T>G (p.Leu1059=)
c.2739T>G (p.Leu913=)
n.4007T>G
 dbSNP
3g.46999930T=CA1362362931NBEAL2c.3831T= (p.Leu1277=)
c.3729T= (p.Leu1243=)
n.168T=
c.1960-266T=
c.303T= (p.Leu101=)
c.3750T= (p.Leu1250=)
c.3810T= (p.Leu1270=)
c.3462T= (p.Leu1154=)
c.3291T= (p.Leu1097=)
c.3177T= (p.Leu1059=)
c.2739T= (p.Leu913=)
n.4007T=
3g.46999931C>ACA352515447NBEAL2c.3832C>A (p.Leu1278Met)
c.3730C>A (p.Leu1244Met)
n.169C>A
c.1960-265C>A
c.304C>A (p.Leu102Met)
c.3751C>A (p.Leu1251Met)
c.3811C>A (p.Leu1271Met)
c.3463C>A (p.Leu1155Met)
c.3292C>A (p.Leu1098Met)
c.3178C>A (p.Leu1060Met)
c.2740C>A (p.Leu914Met)
n.4008C>A
3g.46999931C>GCA352515448NBEAL2c.3832C>G (p.Leu1278Val)
c.3730C>G (p.Leu1244Val)
n.169C>G
c.1960-265C>G
c.304C>G (p.Leu102Val)
c.3751C>G (p.Leu1251Val)
c.3811C>G (p.Leu1271Val)
c.3463C>G (p.Leu1155Val)
c.3292C>G (p.Leu1098Val)
c.3178C>G (p.Leu1060Val)
c.2740C>G (p.Leu914Val)
n.4008C>G
3g.46999931C>TCA433477130NBEAL2c.3832C>T (p.Leu1278=)
c.3730C>T (p.Leu1244=)
n.169C>T
c.1960-265C>T
c.304C>T (p.Leu102=)
c.3751C>T (p.Leu1251=)
c.3811C>T (p.Leu1271=)
c.3463C>T (p.Leu1155=)
c.3292C>T (p.Leu1098=)
c.3178C>T (p.Leu1060=)
c.2740C>T (p.Leu914=)
n.4008C>T
 gnomAD v4
3g.46999932T>ACA352515449NBEAL2c.3833T>A (p.Leu1278Gln)
c.3731T>A (p.Leu1244Gln)
n.170T>A
c.1960-264T>A
c.305T>A (p.Leu102Gln)
c.3752T>A (p.Leu1251Gln)
c.3812T>A (p.Leu1271Gln)
c.3464T>A (p.Leu1155Gln)
c.3293T>A (p.Leu1098Gln)
c.3179T>A (p.Leu1060Gln)
c.2741T>A (p.Leu914Gln)
n.4009T>A
3g.46999932T>CCA352515450NBEAL2c.3833T>C (p.Leu1278Pro)
c.3731T>C (p.Leu1244Pro)
n.170T>C
c.1960-264T>C
c.305T>C (p.Leu102Pro)
c.3752T>C (p.Leu1251Pro)
c.3812T>C (p.Leu1271Pro)
c.3464T>C (p.Leu1155Pro)
c.3293T>C (p.Leu1098Pro)
c.3179T>C (p.Leu1060Pro)
c.2741T>C (p.Leu914Pro)
n.4009T>C
3g.46999932T>GCA352515451NBEAL2c.3833T>G (p.Leu1278Arg)
c.3731T>G (p.Leu1244Arg)
n.170T>G
c.1960-264T>G
c.305T>G (p.Leu102Arg)
c.3752T>G (p.Leu1251Arg)
c.3812T>G (p.Leu1271Arg)
c.3464T>G (p.Leu1155Arg)
c.3293T>G (p.Leu1098Arg)
c.3179T>G (p.Leu1060Arg)
c.2741T>G (p.Leu914Arg)
n.4009T>G
3g.46999933G>ACA433477131NBEAL2c.3834G>A (p.Leu1278=)
c.3732G>A (p.Leu1244=)
n.171G>A
c.1960-263G>A
c.306G>A (p.Leu102=)
c.3753G>A (p.Leu1251=)
c.3813G>A (p.Leu1271=)
c.3465G>A (p.Leu1155=)
c.3294G>A (p.Leu1098=)
c.3180G>A (p.Leu1060=)
c.2742G>A (p.Leu914=)
n.4010G>A
3g.46999933G>CCA433477132NBEAL2c.3834G>C (p.Leu1278=)
c.3732G>C (p.Leu1244=)
n.171G>C
c.1960-263G>C
c.306G>C (p.Leu102=)
c.3753G>C (p.Leu1251=)
c.3813G>C (p.Leu1271=)
c.3465G>C (p.Leu1155=)
c.3294G>C (p.Leu1098=)
c.3180G>C (p.Leu1060=)
c.2742G>C (p.Leu914=)
n.4010G>C
3g.46999933G>TCA433477133NBEAL2c.3834G>T (p.Leu1278=)
c.3732G>T (p.Leu1244=)
n.171G>T
c.1960-263G>T
c.306G>T (p.Leu102=)
c.3753G>T (p.Leu1251=)
c.3813G>T (p.Leu1271=)
c.3465G>T (p.Leu1155=)
c.3294G>T (p.Leu1098=)
c.3180G>T (p.Leu1060=)
c.2742G>T (p.Leu914=)
n.4010G>T
 gnomAD v4
3g.46999934G>ACA352515452NBEAL2c.3835G>A (p.Ala1279Thr)
c.3733G>A (p.Ala1245Thr)
n.172G>A
c.1960-262G>A
c.307G>A (p.Ala103Thr)
c.3754G>A (p.Ala1252Thr)
c.3814G>A (p.Ala1272Thr)
c.3466G>A (p.Ala1156Thr)
c.3295G>A (p.Ala1099Thr)
c.3181G>A (p.Ala1061Thr)
c.2743G>A (p.Ala915Thr)
n.4011G>A
3g.46999934G>CCA352515453NBEAL2c.3835G>C (p.Ala1279Pro)
c.3733G>C (p.Ala1245Pro)
n.172G>C
c.1960-262G>C
c.307G>C (p.Ala103Pro)
c.3754G>C (p.Ala1252Pro)
c.3814G>C (p.Ala1272Pro)
c.3466G>C (p.Ala1156Pro)
c.3295G>C (p.Ala1099Pro)
c.3181G>C (p.Ala1061Pro)
c.2743G>C (p.Ala915Pro)
n.4011G>C
3g.46999934G>TCA352515454NBEAL2c.3835G>T (p.Ala1279Ser)
c.3733G>T (p.Ala1245Ser)
n.172G>T
c.1960-262G>T
c.307G>T (p.Ala103Ser)
c.3754G>T (p.Ala1252Ser)
c.3814G>T (p.Ala1272Ser)
c.3466G>T (p.Ala1156Ser)
c.3295G>T (p.Ala1099Ser)
c.3181G>T (p.Ala1061Ser)
c.2743G>T (p.Ala915Ser)
n.4011G>T
 gnomAD v4
3g.46999935C>ACA352515456NBEAL2c.3836C>A (p.Ala1279Asp)
c.3734C>A (p.Ala1245Asp)
n.173C>A
c.1960-261C>A
c.308C>A (p.Ala103Asp)
c.3755C>A (p.Ala1252Asp)
c.3815C>A (p.Ala1272Asp)
c.3467C>A (p.Ala1156Asp)
c.3296C>A (p.Ala1099Asp)
c.3182C>A (p.Ala1061Asp)
c.2744C>A (p.Ala915Asp)
n.4012C>A
3g.46999935C=CA1362362932NBEAL2c.3836C= (p.Ala1279=)
c.3734C= (p.Ala1245=)
n.173C=
c.1960-261C=
c.308C= (p.Ala103=)
c.3755C= (p.Ala1252=)
c.3815C= (p.Ala1272=)
c.3467C= (p.Ala1156=)
c.3296C= (p.Ala1099=)
c.3182C= (p.Ala1061=)
c.2744C= (p.Ala915=)
n.4012C=
3g.46999935C>GCA352515455NBEAL2c.3836C>G (p.Ala1279Gly)
c.3734C>G (p.Ala1245Gly)
n.173C>G
c.1960-261C>G
c.308C>G (p.Ala103Gly)
c.3755C>G (p.Ala1252Gly)
c.3815C>G (p.Ala1272Gly)
c.3467C>G (p.Ala1156Gly)
c.3296C>G (p.Ala1099Gly)
c.3182C>G (p.Ala1061Gly)
c.2744C>G (p.Ala915Gly)
n.4012C>G
3g.46999935C>TCA73817487NBEAL2c.3836C>T (p.Ala1279Val)
c.3734C>T (p.Ala1245Val)
n.173C>T
c.1960-261C>T
c.308C>T (p.Ala103Val)
c.3755C>T (p.Ala1252Val)
c.3815C>T (p.Ala1272Val)
c.3467C>T (p.Ala1156Val)
c.3296C>T (p.Ala1099Val)
c.3182C>T (p.Ala1061Val)
c.2744C>T (p.Ala915Val)
n.4012C>T
 dbSNP gnomAD v2 gnomAD v4
3g.46999936C>ACA433477134NBEAL2c.3837C>A (p.Ala1279=)
c.3735C>A (p.Ala1245=)
n.174C>A
c.1960-260C>A
c.309C>A (p.Ala103=)
c.3756C>A (p.Ala1252=)
c.3816C>A (p.Ala1272=)
c.3468C>A (p.Ala1156=)
c.3297C>A (p.Ala1099=)
c.3183C>A (p.Ala1061=)
c.2745C>A (p.Ala915=)
n.4013C>A
3g.46999936C>GCA433477135NBEAL2c.3837C>G (p.Ala1279=)
c.3735C>G (p.Ala1245=)
n.174C>G
c.1960-260C>G
c.309C>G (p.Ala103=)
c.3756C>G (p.Ala1252=)
c.3816C>G (p.Ala1272=)
c.3468C>G (p.Ala1156=)
c.3297C>G (p.Ala1099=)
c.3183C>G (p.Ala1061=)
c.2745C>G (p.Ala915=)
n.4013C>G
3g.46999936C>TCA433477136NBEAL2c.3837C>T (p.Ala1279=)
c.3735C>T (p.Ala1245=)
n.174C>T
c.1960-260C>T
c.309C>T (p.Ala103=)
c.3756C>T (p.Ala1252=)
c.3816C>T (p.Ala1272=)
c.3468C>T (p.Ala1156=)
c.3297C>T (p.Ala1099=)
c.3183C>T (p.Ala1061=)
c.2745C>T (p.Ala915=)
n.4013C>T
3g.46999937C>ACA433477137NBEAL2c.3838C>A (p.Arg1280=)
c.3736C>A (p.Arg1246=)
n.175C>A
c.1960-259C>A
c.310C>A (p.Arg104=)
c.3757C>A (p.Arg1253=)
c.3817C>A (p.Arg1273=)
c.3469C>A (p.Arg1157=)
c.3298C>A (p.Arg1100=)
c.3184C>A (p.Arg1062=)
c.2746C>A (p.Arg916=)
n.4014C>A
3g.46999937C=CA1362362933NBEAL2c.3838C= (p.Arg1280=)
c.3736C= (p.Arg1246=)
n.175C=
c.1960-259C=
c.310C= (p.Arg104=)
c.3757C= (p.Arg1253=)
c.3817C= (p.Arg1273=)
c.3469C= (p.Arg1157=)
c.3298C= (p.Arg1100=)
c.3184C= (p.Arg1062=)
c.2746C= (p.Arg916=)
n.4014C=
3g.46999937C>GCA352515457NBEAL2c.3838C>G (p.Arg1280Gly)
c.3736C>G (p.Arg1246Gly)
n.175C>G
c.1960-259C>G
c.310C>G (p.Arg104Gly)
c.3757C>G (p.Arg1253Gly)
c.3817C>G (p.Arg1273Gly)
c.3469C>G (p.Arg1157Gly)
c.3298C>G (p.Arg1100Gly)
c.3184C>G (p.Arg1062Gly)
c.2746C>G (p.Arg916Gly)
n.4014C>G
 dbSNP gnomAD v2 gnomAD v4
3g.46999937C>TCA73817495NBEAL2c.3838C>T (p.Arg1280Ter)
c.3736C>T (p.Arg1246Ter)
n.175C>T
c.1960-259C>T
c.310C>T (p.Arg104Ter)
c.3757C>T (p.Arg1253Ter)
c.3817C>T (p.Arg1273Ter)
c.3469C>T (p.Arg1157Ter)
c.3298C>T (p.Arg1100Ter)
c.3184C>T (p.Arg1062Ter)
c.2746C>T (p.Arg916Ter)
n.4014C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.46999938G>ACA2361089NBEAL2c.3839G>A (p.Arg1280Gln)
c.3737G>A (p.Arg1246Gln)
n.176G>A
c.1960-258G>A
c.311G>A (p.Arg104Gln)
c.3758G>A (p.Arg1253Gln)
c.3818G>A (p.Arg1273Gln)
c.3470G>A (p.Arg1157Gln)
c.3299G>A (p.Arg1100Gln)
c.3185G>A (p.Arg1062Gln)
c.2747G>A (p.Arg916Gln)
n.4015G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.46999938G>CCA352515458NBEAL2c.3839G>C (p.Arg1280Pro)
c.3737G>C (p.Arg1246Pro)
n.176G>C
c.1960-258G>C
c.311G>C (p.Arg104Pro)
c.3758G>C (p.Arg1253Pro)
c.3818G>C (p.Arg1273Pro)
c.3470G>C (p.Arg1157Pro)
c.3299G>C (p.Arg1100Pro)
c.3185G>C (p.Arg1062Pro)
c.2747G>C (p.Arg916Pro)
n.4015G>C
3g.46999938G=CA1362362934NBEAL2c.3839G= (p.Arg1280=)
c.3737G= (p.Arg1246=)
n.176G=
c.1960-258G=
c.311G= (p.Arg104=)
c.3758G= (p.Arg1253=)
c.3818G= (p.Arg1273=)
c.3470G= (p.Arg1157=)
c.3299G= (p.Arg1100=)
c.3185G= (p.Arg1062=)
c.2747G= (p.Arg916=)
n.4015G=
3g.46999938G>TCA352515459NBEAL2c.3839G>T (p.Arg1280Leu)
c.3737G>T (p.Arg1246Leu)
n.176G>T
c.1960-258G>T
c.311G>T (p.Arg104Leu)
c.3758G>T (p.Arg1253Leu)
c.3818G>T (p.Arg1273Leu)
c.3470G>T (p.Arg1157Leu)
c.3299G>T (p.Arg1100Leu)
c.3185G>T (p.Arg1062Leu)
c.2747G>T (p.Arg916Leu)
n.4015G>T
 dbSNP gnomAD v2 gnomAD v4
3g.46999939A>CCA433477138NBEAL2c.3840A>C (p.Arg1280=)
c.3738A>C (p.Arg1246=)
n.177A>C
c.1960-257A>C
c.312A>C (p.Arg104=)
c.3759A>C (p.Arg1253=)
c.3819A>C (p.Arg1273=)
c.3471A>C (p.Arg1157=)
c.3300A>C (p.Arg1100=)
c.3186A>C (p.Arg1062=)
c.2748A>C (p.Arg916=)
n.4016A>C
3g.46999939A>GCA433477140NBEAL2c.3840A>G (p.Arg1280=)
c.3738A>G (p.Arg1246=)
n.177A>G
c.1960-257A>G
c.312A>G (p.Arg104=)
c.3759A>G (p.Arg1253=)
c.3819A>G (p.Arg1273=)
c.3471A>G (p.Arg1157=)
c.3300A>G (p.Arg1100=)
c.3186A>G (p.Arg1062=)
c.2748A>G (p.Arg916=)
n.4016A>G
3g.46999939A>TCA433477139NBEAL2c.3840A>T (p.Arg1280=)
c.3738A>T (p.Arg1246=)
n.177A>T
c.1960-257A>T
c.312A>T (p.Arg104=)
c.3759A>T (p.Arg1253=)
c.3819A>T (p.Arg1273=)
c.3471A>T (p.Arg1157=)
c.3300A>T (p.Arg1100=)
c.3186A>T (p.Arg1062=)
c.2748A>T (p.Arg916=)
n.4016A>T
3g.46999940C>ACA352516198NBEAL2c.3841C>A (p.Gln1281Lys)
c.3739C>A (p.Gln1247Lys)
n.178C>A
c.1960-256C>A
c.313C>A (p.Gln105Lys)
c.3760C>A (p.Gln1254Lys)
c.3820C>A (p.Gln1274Lys)
c.3472C>A (p.Gln1158Lys)
c.3301C>A (p.Gln1101Lys)
c.3187C>A (p.Gln1063Lys)
c.2749C>A (p.Gln917Lys)
n.4017C>A
3g.46999940C>GCA352516199NBEAL2c.3841C>G (p.Gln1281Glu)
c.3739C>G (p.Gln1247Glu)
n.178C>G
c.1960-256C>G
c.313C>G (p.Gln105Glu)
c.3760C>G (p.Gln1254Glu)
c.3820C>G (p.Gln1274Glu)
c.3472C>G (p.Gln1158Glu)
c.3301C>G (p.Gln1101Glu)
c.3187C>G (p.Gln1063Glu)
c.2749C>G (p.Gln917Glu)
n.4017C>G
 gnomAD v4
3g.46999940C>TCA352516200NBEAL2c.3841C>T (p.Gln1281Ter)
c.3739C>T (p.Gln1247Ter)
n.178C>T
c.1960-256C>T
c.313C>T (p.Gln105Ter)
c.3760C>T (p.Gln1254Ter)
c.3820C>T (p.Gln1274Ter)
c.3472C>T (p.Gln1158Ter)
c.3301C>T (p.Gln1101Ter)
c.3187C>T (p.Gln1063Ter)
c.2749C>T (p.Gln917Ter)
n.4017C>T
3g.46999941A>CCA352516203NBEAL2c.3842A>C (p.Gln1281Pro)
c.3740A>C (p.Gln1247Pro)
n.179A>C
c.1960-255A>C
c.314A>C (p.Gln105Pro)
c.3761A>C (p.Gln1254Pro)
c.3821A>C (p.Gln1274Pro)
c.3473A>C (p.Gln1158Pro)
c.3302A>C (p.Gln1101Pro)
c.3188A>C (p.Gln1063Pro)
c.2750A>C (p.Gln917Pro)
n.4018A>C
3g.46999941A>GCA352516201NBEAL2c.3842A>G (p.Gln1281Arg)
c.3740A>G (p.Gln1247Arg)
n.179A>G
c.1960-255A>G
c.314A>G (p.Gln105Arg)
c.3761A>G (p.Gln1254Arg)
c.3821A>G (p.Gln1274Arg)
c.3473A>G (p.Gln1158Arg)
c.3302A>G (p.Gln1101Arg)
c.3188A>G (p.Gln1063Arg)
c.2750A>G (p.Gln917Arg)
n.4018A>G
3g.46999941A>TCA352516202NBEAL2c.3842A>T (p.Gln1281Leu)
c.3740A>T (p.Gln1247Leu)
n.179A>T
c.1960-255A>T
c.314A>T (p.Gln105Leu)
c.3761A>T (p.Gln1254Leu)
c.3821A>T (p.Gln1274Leu)
c.3473A>T (p.Gln1158Leu)
c.3302A>T (p.Gln1101Leu)
c.3188A>T (p.Gln1063Leu)
c.2750A>T (p.Gln917Leu)
n.4018A>T
3g.46999942G>ACA73817510NBEAL2c.3843G>A (p.Gln1281=)
c.3741G>A (p.Gln1247=)
n.180G>A
c.1960-254G>A
c.315G>A (p.Gln105=)
c.3762G>A (p.Gln1254=)
c.3822G>A (p.Gln1274=)
c.3474G>A (p.Gln1158=)
c.3303G>A (p.Gln1101=)
c.3189G>A (p.Gln1063=)
c.2751G>A (p.Gln917=)
n.4019G>A
 dbSNP gnomAD v4
3g.46999942G>CCA352516204NBEAL2c.3843G>C (p.Gln1281His)
c.3741G>C (p.Gln1247His)
n.180G>C
c.1960-254G>C
c.315G>C (p.Gln105His)
c.3762G>C (p.Gln1254His)
c.3822G>C (p.Gln1274His)
c.3474G>C (p.Gln1158His)
c.3303G>C (p.Gln1101His)
c.3189G>C (p.Gln1063His)
c.2751G>C (p.Gln917His)
n.4019G>C
 gnomAD v4
3g.46999942G=CA1362362935NBEAL2c.3843G= (p.Gln1281=)
c.3741G= (p.Gln1247=)
n.180G=
c.1960-254G=
c.315G= (p.Gln105=)
c.3762G= (p.Gln1254=)
c.3822G= (p.Gln1274=)
c.3474G= (p.Gln1158=)
c.3303G= (p.Gln1101=)
c.3189G= (p.Gln1063=)
c.2751G= (p.Gln917=)
n.4019G=
3g.46999942G>TCA352516205NBEAL2c.3843G>T (p.Gln1281His)
c.3741G>T (p.Gln1247His)
n.180G>T
c.1960-254G>T
c.315G>T (p.Gln105His)
c.3762G>T (p.Gln1254His)
c.3822G>T (p.Gln1274His)
c.3474G>T (p.Gln1158His)
c.3303G>T (p.Gln1101His)
c.3189G>T (p.Gln1063His)
c.2751G>T (p.Gln917His)
n.4019G>T
3g.46999943G>ACA352516206NBEAL2c.3844G>A (p.Ala1282Thr)
c.3742G>A (p.Ala1248Thr)
n.181G>A
c.1960-253G>A
c.316G>A (p.Ala106Thr)
c.3763G>A (p.Ala1255Thr)
c.3823G>A (p.Ala1275Thr)
c.3475G>A (p.Ala1159Thr)
c.3304G>A (p.Ala1102Thr)
c.3190G>A (p.Ala1064Thr)
c.2752G>A (p.Ala918Thr)
n.4020G>A
3g.46999943G>CCA352516207NBEAL2c.3844G>C (p.Ala1282Pro)
c.3742G>C (p.Ala1248Pro)
n.181G>C
c.1960-253G>C
c.316G>C (p.Ala106Pro)
c.3763G>C (p.Ala1255Pro)
c.3823G>C (p.Ala1275Pro)
c.3475G>C (p.Ala1159Pro)
c.3304G>C (p.Ala1102Pro)
c.3190G>C (p.Ala1064Pro)
c.2752G>C (p.Ala918Pro)
n.4020G>C
 dbSNP gnomAD v4
3g.46999943G=CA1362362936NBEAL2c.3844G= (p.Ala1282=)
c.3742G= (p.Ala1248=)
n.181G=
c.1960-253G=
c.316G= (p.Ala106=)
c.3763G= (p.Ala1255=)
c.3823G= (p.Ala1275=)
c.3475G= (p.Ala1159=)
c.3304G= (p.Ala1102=)
c.3190G= (p.Ala1064=)
c.2752G= (p.Ala918=)
n.4020G=
3g.46999943G>TCA352516208NBEAL2c.3844G>T (p.Ala1282Ser)
c.3742G>T (p.Ala1248Ser)
n.181G>T
c.1960-253G>T
c.316G>T (p.Ala106Ser)
c.3763G>T (p.Ala1255Ser)
c.3823G>T (p.Ala1275Ser)
c.3475G>T (p.Ala1159Ser)
c.3304G>T (p.Ala1102Ser)
c.3190G>T (p.Ala1064Ser)
c.2752G>T (p.Ala918Ser)
n.4020G>T
3g.46999944C>ACA352516209NBEAL2c.3845C>A (p.Ala1282Asp)
c.3743C>A (p.Ala1248Asp)
n.182C>A
c.1960-252C>A
c.317C>A (p.Ala106Asp)
c.3764C>A (p.Ala1255Asp)
c.3824C>A (p.Ala1275Asp)
c.3476C>A (p.Ala1159Asp)
c.3305C>A (p.Ala1102Asp)
c.3191C>A (p.Ala1064Asp)
c.2753C>A (p.Ala918Asp)
n.4021C>A
3g.46999944C>GCA352516211NBEAL2c.3845C>G (p.Ala1282Gly)
c.3743C>G (p.Ala1248Gly)
n.182C>G
c.1960-252C>G
c.317C>G (p.Ala106Gly)
c.3764C>G (p.Ala1255Gly)
c.3824C>G (p.Ala1275Gly)
c.3476C>G (p.Ala1159Gly)
c.3305C>G (p.Ala1102Gly)
c.3191C>G (p.Ala1064Gly)
c.2753C>G (p.Ala918Gly)
n.4021C>G
3g.46999944C>TCA352516210NBEAL2c.3845C>T (p.Ala1282Val)
c.3743C>T (p.Ala1248Val)
n.182C>T
c.1960-252C>T
c.317C>T (p.Ala106Val)
c.3764C>T (p.Ala1255Val)
c.3824C>T (p.Ala1275Val)
c.3476C>T (p.Ala1159Val)
c.3305C>T (p.Ala1102Val)
c.3191C>T (p.Ala1064Val)
c.2753C>T (p.Ala918Val)
n.4021C>T
3g.46999945T>ACA433598069NBEAL2c.3846T>A (p.Ala1282=)
c.3744T>A (p.Ala1248=)
n.183T>A
c.1960-251T>A
c.318T>A (p.Ala106=)
c.3765T>A (p.Ala1255=)
c.3825T>A (p.Ala1275=)
c.3477T>A (p.Ala1159=)
c.3306T>A (p.Ala1102=)
c.3192T>A (p.Ala1064=)
c.2754T>A (p.Ala918=)
n.4022T>A
3g.46999945T>CCA433598071NBEAL2c.3846T>C (p.Ala1282=)
c.3744T>C (p.Ala1248=)
n.183T>C
c.1960-251T>C
c.318T>C (p.Ala106=)
c.3765T>C (p.Ala1255=)
c.3825T>C (p.Ala1275=)
c.3477T>C (p.Ala1159=)
c.3306T>C (p.Ala1102=)
c.3192T>C (p.Ala1064=)
c.2754T>C (p.Ala918=)
n.4022T>C
 gnomAD v4
3g.46999945T>GCA433598070NBEAL2c.3846T>G (p.Ala1282=)
c.3744T>G (p.Ala1248=)
n.183T>G
c.1960-251T>G
c.318T>G (p.Ala106=)
c.3765T>G (p.Ala1255=)
c.3825T>G (p.Ala1275=)
c.3477T>G (p.Ala1159=)
c.3306T>G (p.Ala1102=)
c.3192T>G (p.Ala1064=)
c.2754T>G (p.Ala918=)
n.4022T>G
3g.46999946G>ACA352516212NBEAL2c.3847G>A (p.Gly1283Ser)
c.3745G>A (p.Gly1249Ser)
n.184G>A
c.1960-250G>A
c.319G>A (p.Gly107Ser)
c.3766G>A (p.Gly1256Ser)
c.3826G>A (p.Gly1276Ser)
c.3478G>A (p.Gly1160Ser)
c.3307G>A (p.Gly1103Ser)
c.3193G>A (p.Gly1065Ser)
c.2755G>A (p.Gly919Ser)
n.4023G>A
 dbSNP gnomAD v2 gnomAD v4
3g.46999946G>CCA352516213NBEAL2c.3847G>C (p.Gly1283Arg)
c.3745G>C (p.Gly1249Arg)
n.184G>C
c.1960-250G>C
c.319G>C (p.Gly107Arg)
c.3766G>C (p.Gly1256Arg)
c.3826G>C (p.Gly1276Arg)
c.3478G>C (p.Gly1160Arg)
c.3307G>C (p.Gly1103Arg)
c.3193G>C (p.Gly1065Arg)
c.2755G>C (p.Gly919Arg)
n.4023G>C
3g.46999946G=CA1362362937NBEAL2c.3847G= (p.Gly1283=)
c.3745G= (p.Gly1249=)
n.184G=
c.1960-250G=
c.319G= (p.Gly107=)
c.3766G= (p.Gly1256=)
c.3826G= (p.Gly1276=)
c.3478G= (p.Gly1160=)
c.3307G= (p.Gly1103=)
c.3193G= (p.Gly1065=)
c.2755G= (p.Gly919=)
n.4023G=
3g.46999946G>TCA352516214NBEAL2c.3847G>T (p.Gly1283Cys)
c.3745G>T (p.Gly1249Cys)
n.184G>T
c.1960-250G>T
c.319G>T (p.Gly107Cys)
c.3766G>T (p.Gly1256Cys)
c.3826G>T (p.Gly1276Cys)
c.3478G>T (p.Gly1160Cys)
c.3307G>T (p.Gly1103Cys)
c.3193G>T (p.Gly1065Cys)
c.2755G>T (p.Gly919Cys)
n.4023G>T
3g.46999947G>ACA352516215NBEAL2c.3848G>A (p.Gly1283Asp)
c.3746G>A (p.Gly1249Asp)
n.185G>A
c.1960-249G>A
c.320G>A (p.Gly107Asp)
c.3767G>A (p.Gly1256Asp)
c.3827G>A (p.Gly1276Asp)
c.3479G>A (p.Gly1160Asp)
c.3308G>A (p.Gly1103Asp)
c.3194G>A (p.Gly1065Asp)
c.2756G>A (p.Gly919Asp)
n.4024G>A
 gnomAD v4
3g.46999947G>CCA352516216NBEAL2c.3848G>C (p.Gly1283Ala)
c.3746G>C (p.Gly1249Ala)
n.185G>C
c.1960-249G>C
c.320G>C (p.Gly107Ala)
c.3767G>C (p.Gly1256Ala)
c.3827G>C (p.Gly1276Ala)
c.3479G>C (p.Gly1160Ala)
c.3308G>C (p.Gly1103Ala)
c.3194G>C (p.Gly1065Ala)
c.2756G>C (p.Gly919Ala)
n.4024G>C
3g.46999947G=CA1362362938NBEAL2c.3848G= (p.Gly1283=)
c.3746G= (p.Gly1249=)
n.185G=
c.1960-249G=
c.320G= (p.Gly107=)
c.3767G= (p.Gly1256=)
c.3827G= (p.Gly1276=)
c.3479G= (p.Gly1160=)
c.3308G= (p.Gly1103=)
c.3194G= (p.Gly1065=)
c.2756G= (p.Gly919=)
n.4024G=
3g.46999947G>TCA2361090NBEAL2c.3848G>T (p.Gly1283Val)
c.3746G>T (p.Gly1249Val)
n.185G>T
c.1960-249G>T
c.320G>T (p.Gly107Val)
c.3767G>T (p.Gly1256Val)
c.3827G>T (p.Gly1276Val)
c.3479G>T (p.Gly1160Val)
c.3308G>T (p.Gly1103Val)
c.3194G>T (p.Gly1065Val)
c.2756G>T (p.Gly919Val)
n.4024G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.46999948C>ACA433598078NBEAL2c.3849C>A (p.Gly1283=)
c.3747C>A (p.Gly1249=)
n.186C>A
c.1960-248C>A
c.321C>A (p.Gly107=)
c.3768C>A (p.Gly1256=)
c.3828C>A (p.Gly1276=)
c.3480C>A (p.Gly1160=)
c.3309C>A (p.Gly1103=)
c.3195C>A (p.Gly1065=)
c.2757C>A (p.Gly919=)
n.4025C>A
3g.46999948C>GCA433598083NBEAL2c.3849C>G (p.Gly1283=)
c.3747C>G (p.Gly1249=)
n.186C>G
c.1960-248C>G
c.321C>G (p.Gly107=)
c.3768C>G (p.Gly1256=)
c.3828C>G (p.Gly1276=)
c.3480C>G (p.Gly1160=)
c.3309C>G (p.Gly1103=)
c.3195C>G (p.Gly1065=)
c.2757C>G (p.Gly919=)
n.4025C>G
3g.46999948C>TCA433598085NBEAL2c.3849C>T (p.Gly1283=)
c.3747C>T (p.Gly1249=)
n.186C>T
c.1960-248C>T
c.321C>T (p.Gly107=)
c.3768C>T (p.Gly1256=)
c.3828C>T (p.Gly1276=)
c.3480C>T (p.Gly1160=)
c.3309C>T (p.Gly1103=)
c.3195C>T (p.Gly1065=)
c.2757C>T (p.Gly919=)
n.4025C>T
 gnomAD v4
3g.46999949T>ACA352516217NBEAL2c.3850T>A (p.Trp1284Arg)
c.3748T>A (p.Trp1250Arg)
n.187T>A
c.1960-247T>A
c.322T>A (p.Trp108Arg)
c.3769T>A (p.Trp1257Arg)
c.3829T>A (p.Trp1277Arg)
c.3481T>A (p.Trp1161Arg)
c.3310T>A (p.Trp1104Arg)
c.3196T>A (p.Trp1066Arg)
c.2758T>A (p.Trp920Arg)
n.4026T>A
 gnomAD v4
3g.46999949T>CCA352516218NBEAL2c.3850T>C (p.Trp1284Arg)
c.3748T>C (p.Trp1250Arg)
n.187T>C
c.1960-247T>C
c.322T>C (p.Trp108Arg)
c.3769T>C (p.Trp1257Arg)
c.3829T>C (p.Trp1277Arg)
c.3481T>C (p.Trp1161Arg)
c.3310T>C (p.Trp1104Arg)
c.3196T>C (p.Trp1066Arg)
c.2758T>C (p.Trp920Arg)
n.4026T>C
3g.46999949T>GCA352516219NBEAL2c.3850T>G (p.Trp1284Gly)
c.3748T>G (p.Trp1250Gly)
n.187T>G
c.1960-247T>G
c.322T>G (p.Trp108Gly)
c.3769T>G (p.Trp1257Gly)
c.3829T>G (p.Trp1277Gly)
c.3481T>G (p.Trp1161Gly)
c.3310T>G (p.Trp1104Gly)
c.3196T>G (p.Trp1066Gly)
c.2758T>G (p.Trp920Gly)
n.4026T>G
 gnomAD v4
3g.46999950G>ACA352516220NBEAL2c.3851G>A (p.Trp1284Ter)
c.3749G>A (p.Trp1250Ter)
n.188G>A
c.1960-246G>A
c.323G>A (p.Trp108Ter)
c.3770G>A (p.Trp1257Ter)
c.3830G>A (p.Trp1277Ter)
c.3482G>A (p.Trp1161Ter)
c.3311G>A (p.Trp1104Ter)
c.3197G>A (p.Trp1066Ter)
c.2759G>A (p.Trp920Ter)
n.4027G>A
3g.46999950G>CCA352516221NBEAL2c.3851G>C (p.Trp1284Ser)
c.3749G>C (p.Trp1250Ser)
n.188G>C
c.1960-246G>C
c.323G>C (p.Trp108Ser)
c.3770G>C (p.Trp1257Ser)
c.3830G>C (p.Trp1277Ser)
c.3482G>C (p.Trp1161Ser)
c.3311G>C (p.Trp1104Ser)
c.3197G>C (p.Trp1066Ser)
c.2759G>C (p.Trp920Ser)
n.4027G>C
3g.46999950G>TCA352516222NBEAL2c.3851G>T (p.Trp1284Leu)
c.3749G>T (p.Trp1250Leu)
n.188G>T
c.1960-246G>T
c.323G>T (p.Trp108Leu)
c.3770G>T (p.Trp1257Leu)
c.3830G>T (p.Trp1277Leu)
c.3482G>T (p.Trp1161Leu)
c.3311G>T (p.Trp1104Leu)
c.3197G>T (p.Trp1066Leu)
c.2759G>T (p.Trp920Leu)
n.4027G>T
3g.46999950_46999953dupCA2665493215NBEAL2c.3851_3854dup (p.Asp1286AlafsTer?)
c.3749_3752dup (p.Asp1252AlafsTer?)
n.188_191dup
c.1960-246_1960-243dup
c.323_326dup (p.Asp110AlafsTer?)
c.3770_3773dup (p.Asp1259AlafsTer?)
c.3830_3833dup (p.Asp1279AlafsTer?)
c.3482_3485dup (p.Asp1163AlafsTer?)
c.3311_3314dup (p.Asp1106AlafsTer?)
c.3197_3200dup (p.Asp1068AlafsTer?)
c.2759_2762dup (p.Asp922AlafsTer?)
n.4027_4030dup
 gnomAD v4
3g.46999951G>ACA352516223NBEAL2c.3852G>A (p.Trp1284Ter)
c.3750G>A (p.Trp1250Ter)
n.189G>A
c.1960-245G>A
c.324G>A (p.Trp108Ter)
c.3771G>A (p.Trp1257Ter)
c.3831G>A (p.Trp1277Ter)
c.3483G>A (p.Trp1161Ter)
c.3312G>A (p.Trp1104Ter)
c.3198G>A (p.Trp1066Ter)
c.2760G>A (p.Trp920Ter)
n.4028G>A
 gnomAD v4
3g.46999951G>CCA352516225NBEAL2c.3852G>C (p.Trp1284Cys)
c.3750G>C (p.Trp1250Cys)
n.189G>C
c.1960-245G>C
c.324G>C (p.Trp108Cys)
c.3771G>C (p.Trp1257Cys)
c.3831G>C (p.Trp1277Cys)
c.3483G>C (p.Trp1161Cys)
c.3312G>C (p.Trp1104Cys)
c.3198G>C (p.Trp1066Cys)
c.2760G>C (p.Trp920Cys)
n.4028G>C
3g.46999951G>TCA352516224NBEAL2c.3852G>T (p.Trp1284Cys)
c.3750G>T (p.Trp1250Cys)
n.189G>T
c.1960-245G>T
c.324G>T (p.Trp108Cys)
c.3771G>T (p.Trp1257Cys)
c.3831G>T (p.Trp1277Cys)
c.3483G>T (p.Trp1161Cys)
c.3312G>T (p.Trp1104Cys)
c.3198G>T (p.Trp1066Cys)
c.2760G>T (p.Trp920Cys)
n.4028G>T
 gnomAD v4
3g.46999952C>ACA352516226NBEAL2c.3853C>A (p.Gln1285Lys)
c.3751C>A (p.Gln1251Lys)
n.190C>A
c.1960-244C>A
c.325C>A (p.Gln109Lys)
c.3772C>A (p.Gln1258Lys)
c.3832C>A (p.Gln1278Lys)
c.3484C>A (p.Gln1162Lys)
c.3313C>A (p.Gln1105Lys)
c.3199C>A (p.Gln1067Lys)
c.2761C>A (p.Gln921Lys)
n.4029C>A
3g.46999952C>GCA352516227NBEAL2c.3853C>G (p.Gln1285Glu)
c.3751C>G (p.Gln1251Glu)
n.190C>G
c.1960-244C>G
c.325C>G (p.Gln109Glu)
c.3772C>G (p.Gln1258Glu)
c.3832C>G (p.Gln1278Glu)
c.3484C>G (p.Gln1162Glu)
c.3313C>G (p.Gln1105Glu)
c.3199C>G (p.Gln1067Glu)
c.2761C>G (p.Gln921Glu)
n.4029C>G
3g.46999952C>TCA352516228NBEAL2c.3853C>T (p.Gln1285Ter)
c.3751C>T (p.Gln1251Ter)
n.190C>T
c.1960-244C>T
c.325C>T (p.Gln109Ter)
c.3772C>T (p.Gln1258Ter)
c.3832C>T (p.Gln1278Ter)
c.3484C>T (p.Gln1162Ter)
c.3313C>T (p.Gln1105Ter)
c.3199C>T (p.Gln1067Ter)
c.2761C>T (p.Gln921Ter)
n.4029C>T
3g.46999953A>CCA352516229NBEAL2c.3854A>C (p.Gln1285Pro)
c.3752A>C (p.Gln1251Pro)
n.191A>C
c.1960-243A>C
c.326A>C (p.Gln109Pro)
c.3773A>C (p.Gln1258Pro)
c.3833A>C (p.Gln1278Pro)
c.3485A>C (p.Gln1162Pro)
c.3314A>C (p.Gln1105Pro)
c.3200A>C (p.Gln1067Pro)
c.2762A>C (p.Gln921Pro)
n.4030A>C
3g.46999953A>GCA352516230NBEAL2c.3854A>G (p.Gln1285Arg)
c.3752A>G (p.Gln1251Arg)
n.191A>G
c.1960-243A>G
c.326A>G (p.Gln109Arg)
c.3773A>G (p.Gln1258Arg)
c.3833A>G (p.Gln1278Arg)
c.3485A>G (p.Gln1162Arg)
c.3314A>G (p.Gln1105Arg)
c.3200A>G (p.Gln1067Arg)
c.2762A>G (p.Gln921Arg)
n.4030A>G
3g.46999953A>TCA352516231NBEAL2c.3854A>T (p.Gln1285Leu)
c.3752A>T (p.Gln1251Leu)
n.191A>T
c.1960-243A>T
c.326A>T (p.Gln109Leu)
c.3773A>T (p.Gln1258Leu)
c.3833A>T (p.Gln1278Leu)
c.3485A>T (p.Gln1162Leu)
c.3314A>T (p.Gln1105Leu)
c.3200A>T (p.Gln1067Leu)
c.2762A>T (p.Gln921Leu)
n.4030A>T
3g.46999954A>CCA352516232NBEAL2c.3855A>C (p.Gln1285His)
c.3753A>C (p.Gln1251His)
n.192A>C
c.1960-242A>C
c.327A>C (p.Gln109His)
c.3774A>C (p.Gln1258His)
c.3834A>C (p.Gln1278His)
c.3486A>C (p.Gln1162His)
c.3315A>C (p.Gln1105His)
c.3201A>C (p.Gln1067His)
c.2763A>C (p.Gln921His)
n.4031A>C
3g.46999954A>GCA433598097NBEAL2c.3855A>G (p.Gln1285=)
c.3753A>G (p.Gln1251=)
n.192A>G
c.1960-242A>G
c.327A>G (p.Gln109=)
c.3774A>G (p.Gln1258=)
c.3834A>G (p.Gln1278=)
c.3486A>G (p.Gln1162=)
c.3315A>G (p.Gln1105=)
c.3201A>G (p.Gln1067=)
c.2763A>G (p.Gln921=)
n.4031A>G
 gnomAD v4
3g.46999954A>TCA352516233NBEAL2c.3855A>T (p.Gln1285His)
c.3753A>T (p.Gln1251His)
n.192A>T
c.1960-242A>T
c.327A>T (p.Gln109His)
c.3774A>T (p.Gln1258His)
c.3834A>T (p.Gln1278His)
c.3486A>T (p.Gln1162His)
c.3315A>T (p.Gln1105His)
c.3201A>T (p.Gln1067His)
c.2763A>T (p.Gln921His)
n.4031A>T
3g.46999955G>ACA352516234NBEAL2c.3856G>A (p.Asp1286Asn)
c.3754G>A (p.Asp1252Asn)
n.193G>A
c.1960-241G>A
c.328G>A (p.Asp110Asn)
c.3775G>A (p.Asp1259Asn)
c.3835G>A (p.Asp1279Asn)
c.3487G>A (p.Asp1163Asn)
c.3316G>A (p.Asp1106Asn)
c.3202G>A (p.Asp1068Asn)
c.2764G>A (p.Asp922Asn)
n.4032G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.46999955G>CCA352516235NBEAL2c.3856G>C (p.Asp1286His)
c.3754G>C (p.Asp1252His)
n.193G>C
c.1960-241G>C
c.328G>C (p.Asp110His)
c.3775G>C (p.Asp1259His)
c.3835G>C (p.Asp1279His)
c.3487G>C (p.Asp1163His)
c.3316G>C (p.Asp1106His)
c.3202G>C (p.Asp1068His)
c.2764G>C (p.Asp922His)
n.4032G>C
3g.46999955G=CA1362362939NBEAL2c.3856G= (p.Asp1286=)
c.3754G= (p.Asp1252=)
n.193G=
c.1960-241G=
c.328G= (p.Asp110=)
c.3775G= (p.Asp1259=)
c.3835G= (p.Asp1279=)
c.3487G= (p.Asp1163=)
c.3316G= (p.Asp1106=)
c.3202G= (p.Asp1068=)
c.2764G= (p.Asp922=)
n.4032G=
3g.46999955G>TCA352516236NBEAL2c.3856G>T (p.Asp1286Tyr)
c.3754G>T (p.Asp1252Tyr)
n.193G>T
c.1960-241G>T
c.328G>T (p.Asp110Tyr)
c.3775G>T (p.Asp1259Tyr)
c.3835G>T (p.Asp1279Tyr)
c.3487G>T (p.Asp1163Tyr)
c.3316G>T (p.Asp1106Tyr)
c.3202G>T (p.Asp1068Tyr)
c.2764G>T (p.Asp922Tyr)
n.4032G>T
 gnomAD v4
3g.46999956A=CA1362362940NBEAL2c.3857A= (p.Asp1286=)
c.3755A= (p.Asp1252=)
n.194A=
c.1960-240A=
c.329A= (p.Asp110=)
c.3776A= (p.Asp1259=)
c.3836A= (p.Asp1279=)
c.3488A= (p.Asp1163=)
c.3317A= (p.Asp1106=)
c.3203A= (p.Asp1068=)
c.2765A= (p.Asp922=)
n.4033A=
3g.46999956A>CCA352516237NBEAL2c.3857A>C (p.Asp1286Ala)
c.3755A>C (p.Asp1252Ala)
n.194A>C
c.1960-240A>C
c.329A>C (p.Asp110Ala)
c.3776A>C (p.Asp1259Ala)
c.3836A>C (p.Asp1279Ala)
c.3488A>C (p.Asp1163Ala)
c.3317A>C (p.Asp1106Ala)
c.3203A>C (p.Asp1068Ala)
c.2765A>C (p.Asp922Ala)
n.4033A>C
3g.46999956A>GCA352516238NBEAL2c.3857A>G (p.Asp1286Gly)
c.3755A>G (p.Asp1252Gly)
n.194A>G
c.1960-240A>G
c.329A>G (p.Asp110Gly)
c.3776A>G (p.Asp1259Gly)
c.3836A>G (p.Asp1279Gly)
c.3488A>G (p.Asp1163Gly)
c.3317A>G (p.Asp1106Gly)
c.3203A>G (p.Asp1068Gly)
c.2765A>G (p.Asp922Gly)
n.4033A>G
3g.46999956A>TCA352516239NBEAL2c.3857A>T (p.Asp1286Val)
c.3755A>T (p.Asp1252Val)
n.194A>T
c.1960-240A>T
c.329A>T (p.Asp110Val)
c.3776A>T (p.Asp1259Val)
c.3836A>T (p.Asp1279Val)
c.3488A>T (p.Asp1163Val)
c.3317A>T (p.Asp1106Val)
c.3203A>T (p.Asp1068Val)
c.2765A>T (p.Asp922Val)
n.4033A>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.46999957T>ACA352516240NBEAL2c.3858T>A (p.Asp1286Glu)
c.3756T>A (p.Asp1252Glu)
n.195T>A
c.1960-239T>A
c.330T>A (p.Asp110Glu)
c.3777T>A (p.Asp1259Glu)
c.3837T>A (p.Asp1279Glu)
c.3489T>A (p.Asp1163Glu)
c.3318T>A (p.Asp1106Glu)
c.3204T>A (p.Asp1068Glu)
c.2766T>A (p.Asp922Glu)
n.4034T>A
3g.46999957T>CCA433598105NBEAL2c.3858T>C (p.Asp1286=)
c.3756T>C (p.Asp1252=)
n.195T>C
c.1960-239T>C
c.330T>C (p.Asp110=)
c.3777T>C (p.Asp1259=)
c.3837T>C (p.Asp1279=)
c.3489T>C (p.Asp1163=)
c.3318T>C (p.Asp1106=)
c.3204T>C (p.Asp1068=)
c.2766T>C (p.Asp922=)
n.4034T>C
 dbSNP gnomAD v2 gnomAD v4
3g.46999957T>GCA352516241NBEAL2c.3858T>G (p.Asp1286Glu)
c.3756T>G (p.Asp1252Glu)
n.195T>G
c.1960-239T>G
c.330T>G (p.Asp110Glu)
c.3777T>G (p.Asp1259Glu)
c.3837T>G (p.Asp1279Glu)
c.3489T>G (p.Asp1163Glu)
c.3318T>G (p.Asp1106Glu)
c.3204T>G (p.Asp1068Glu)
c.2766T>G (p.Asp922Glu)
n.4034T>G
3g.46999957T=CA1362362941NBEAL2c.3858T= (p.Asp1286=)
c.3756T= (p.Asp1252=)
n.195T=
c.1960-239T=
c.330T= (p.Asp110=)
c.3777T= (p.Asp1259=)
c.3837T= (p.Asp1279=)
c.3489T= (p.Asp1163=)
c.3318T= (p.Asp1106=)
c.3204T= (p.Asp1068=)
c.2766T= (p.Asp922=)
n.4034T=
3g.46999958G>ACA2361091NBEAL2c.3859G>A (p.Val1287Met)
c.3757G>A (p.Val1253Met)
n.196G>A
c.1960-238G>A
c.331G>A (p.Val111Met)
c.3778G>A (p.Val1260Met)
c.3838G>A (p.Val1280Met)
c.3490G>A (p.Val1164Met)
c.3319G>A (p.Val1107Met)
c.3205G>A (p.Val1069Met)
c.2767G>A (p.Val923Met)
n.4035G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.46999958G>CCA352516242NBEAL2c.3859G>C (p.Val1287Leu)
c.3757G>C (p.Val1253Leu)
n.196G>C
c.1960-238G>C
c.331G>C (p.Val111Leu)
c.3778G>C (p.Val1260Leu)
c.3838G>C (p.Val1280Leu)
c.3490G>C (p.Val1164Leu)
c.3319G>C (p.Val1107Leu)
c.3205G>C (p.Val1069Leu)
c.2767G>C (p.Val923Leu)
n.4035G>C
3g.46999958G=CA1362362942NBEAL2c.3859G= (p.Val1287=)
c.3757G= (p.Val1253=)
n.196G=
c.1960-238G=
c.331G= (p.Val111=)
c.3778G= (p.Val1260=)
c.3838G= (p.Val1280=)
c.3490G= (p.Val1164=)
c.3319G= (p.Val1107=)
c.3205G= (p.Val1069=)
c.2767G= (p.Val923=)
n.4035G=
3g.46999958G>TCA352516243NBEAL2c.3859G>T (p.Val1287Leu)
c.3757G>T (p.Val1253Leu)
n.196G>T
c.1960-238G>T
c.331G>T (p.Val111Leu)
c.3778G>T (p.Val1260Leu)
c.3838G>T (p.Val1280Leu)
c.3490G>T (p.Val1164Leu)
c.3319G>T (p.Val1107Leu)
c.3205G>T (p.Val1069Leu)
c.2767G>T (p.Val923Leu)
n.4035G>T
3g.46999959T>ACA352516244NBEAL2c.3860T>A (p.Val1287Glu)
c.3758T>A (p.Val1253Glu)
n.197T>A
c.1960-237T>A
c.332T>A (p.Val111Glu)
c.3779T>A (p.Val1260Glu)
c.3839T>A (p.Val1280Glu)
c.3491T>A (p.Val1164Glu)
c.3320T>A (p.Val1107Glu)
c.3206T>A (p.Val1069Glu)
c.2768T>A (p.Val923Glu)
n.4036T>A
 gnomAD v4
3g.46999959T>CCA352516245NBEAL2c.3860T>C (p.Val1287Ala)
c.3758T>C (p.Val1253Ala)
n.197T>C
c.1960-237T>C
c.332T>C (p.Val111Ala)
c.3779T>C (p.Val1260Ala)
c.3839T>C (p.Val1280Ala)
c.3491T>C (p.Val1164Ala)
c.3320T>C (p.Val1107Ala)
c.3206T>C (p.Val1069Ala)
c.2768T>C (p.Val923Ala)
n.4036T>C
3g.46999959T>GCA352516246NBEAL2c.3860T>G (p.Val1287Gly)
c.3758T>G (p.Val1253Gly)
n.197T>G
c.1960-237T>G
c.332T>G (p.Val111Gly)
c.3779T>G (p.Val1260Gly)
c.3839T>G (p.Val1280Gly)
c.3491T>G (p.Val1164Gly)
c.3320T>G (p.Val1107Gly)
c.3206T>G (p.Val1069Gly)
c.2768T>G (p.Val923Gly)
n.4036T>G
3g.46999960G>ACA433598109NBEAL2c.3861G>A (p.Val1287=)
c.3759G>A (p.Val1253=)
n.198G>A
c.1960-236G>A
c.333G>A (p.Val111=)
c.3780G>A (p.Val1260=)
c.3840G>A (p.Val1280=)
c.3492G>A (p.Val1164=)
c.3321G>A (p.Val1107=)
c.3207G>A (p.Val1069=)
c.2769G>A (p.Val923=)
n.4037G>A
3g.46999960G>CCA433598113NBEAL2c.3861G>C (p.Val1287=)
c.3759G>C (p.Val1253=)
n.198G>C
c.1960-236G>C
c.333G>C (p.Val111=)
c.3780G>C (p.Val1260=)
c.3840G>C (p.Val1280=)
c.3492G>C (p.Val1164=)
c.3321G>C (p.Val1107=)
c.3207G>C (p.Val1069=)
c.2769G>C (p.Val923=)
n.4037G>C
3g.46999960G>TCA433598110NBEAL2c.3861G>T (p.Val1287=)
c.3759G>T (p.Val1253=)
n.198G>T
c.1960-236G>T
c.333G>T (p.Val111=)
c.3780G>T (p.Val1260=)
c.3840G>T (p.Val1280=)
c.3492G>T (p.Val1164=)
c.3321G>T (p.Val1107=)
c.3207G>T (p.Val1069=)
c.2769G>T (p.Val923=)
n.4037G>T
3g.46999961C>ACA352516247NBEAL2c.3862C>A (p.Leu1288Met)
c.3760C>A (p.Leu1254Met)
n.199C>A
c.1960-235C>A
c.334C>A (p.Leu112Met)
c.3781C>A (p.Leu1261Met)
c.3841C>A (p.Leu1281Met)
c.3493C>A (p.Leu1165Met)
c.3322C>A (p.Leu1108Met)
c.3208C>A (p.Leu1070Met)
c.2770C>A (p.Leu924Met)
n.4038C>A
3g.46999961C=CA1362362943NBEAL2c.3862C= (p.Leu1288=)
c.3760C= (p.Leu1254=)
n.199C=
c.1960-235C=
c.334C= (p.Leu112=)
c.3781C= (p.Leu1261=)
c.3841C= (p.Leu1281=)
c.3493C= (p.Leu1165=)
c.3322C= (p.Leu1108=)
c.3208C= (p.Leu1070=)
c.2770C= (p.Leu924=)
n.4038C=
3g.46999961C>GCA73817520NBEAL2c.3862C>G (p.Leu1288Val)
c.3760C>G (p.Leu1254Val)
n.199C>G
c.1960-235C>G
c.334C>G (p.Leu112Val)
c.3781C>G (p.Leu1261Val)
c.3841C>G (p.Leu1281Val)
c.3493C>G (p.Leu1165Val)
c.3322C>G (p.Leu1108Val)
c.3208C>G (p.Leu1070Val)
c.2770C>G (p.Leu924Val)
n.4038C>G
 dbSNP
3g.46999961C>TCA433598117NBEAL2c.3862C>T (p.Leu1288=)
c.3760C>T (p.Leu1254=)
n.199C>T
c.1960-235C>T
c.334C>T (p.Leu112=)
c.3781C>T (p.Leu1261=)
c.3841C>T (p.Leu1281=)
c.3493C>T (p.Leu1165=)
c.3322C>T (p.Leu1108=)
c.3208C>T (p.Leu1070=)
c.2770C>T (p.Leu924=)
n.4038C>T
 gnomAD v4
3g.46999962T>ACA352516248NBEAL2c.3863T>A (p.Leu1288Gln)
c.3761T>A (p.Leu1254Gln)
n.200T>A
c.1960-234T>A
c.335T>A (p.Leu112Gln)
c.3782T>A (p.Leu1261Gln)
c.3842T>A (p.Leu1281Gln)
c.3494T>A (p.Leu1165Gln)
c.3323T>A (p.Leu1108Gln)
c.3209T>A (p.Leu1070Gln)
c.2771T>A (p.Leu924Gln)
n.4039T>A
3g.46999962T>CCA352516249NBEAL2c.3863T>C (p.Leu1288Pro)
c.3761T>C (p.Leu1254Pro)
n.200T>C
c.1960-234T>C
c.335T>C (p.Leu112Pro)
c.3782T>C (p.Leu1261Pro)
c.3842T>C (p.Leu1281Pro)
c.3494T>C (p.Leu1165Pro)
c.3323T>C (p.Leu1108Pro)
c.3209T>C (p.Leu1070Pro)
c.2771T>C (p.Leu924Pro)
n.4039T>C
 dbSNP
3g.46999962T>GCA352516250NBEAL2c.3863T>G (p.Leu1288Arg)
c.3761T>G (p.Leu1254Arg)
n.200T>G
c.1960-234T>G
c.335T>G (p.Leu112Arg)
c.3782T>G (p.Leu1261Arg)
c.3842T>G (p.Leu1281Arg)
c.3494T>G (p.Leu1165Arg)
c.3323T>G (p.Leu1108Arg)
c.3209T>G (p.Leu1070Arg)
c.2771T>G (p.Leu924Arg)
n.4039T>G
3g.46999962T=CA1362362944NBEAL2c.3863T= (p.Leu1288=)
c.3761T= (p.Leu1254=)
n.200T=
c.1960-234T=
c.335T= (p.Leu112=)
c.3782T= (p.Leu1261=)
c.3842T= (p.Leu1281=)
c.3494T= (p.Leu1165=)
c.3323T= (p.Leu1108=)
c.3209T= (p.Leu1070=)
c.2771T= (p.Leu924=)
n.4039T=
3g.46999963G>ACA2361092NBEAL2c.3864G>A (p.Leu1288=)
c.3762G>A (p.Leu1254=)
n.201G>A
c.1960-233G>A
c.336G>A (p.Leu112=)
c.3783G>A (p.Leu1261=)
c.3843G>A (p.Leu1281=)
c.3495G>A (p.Leu1165=)
c.3324G>A (p.Leu1108=)
c.3210G>A (p.Leu1070=)
c.2772G>A (p.Leu924=)
n.4040G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.46999963G>CCA433598122NBEAL2c.3864G>C (p.Leu1288=)
c.3762G>C (p.Leu1254=)
n.201G>C
c.1960-233G>C
c.336G>C (p.Leu112=)
c.3783G>C (p.Leu1261=)
c.3843G>C (p.Leu1281=)
c.3495G>C (p.Leu1165=)
c.3324G>C (p.Leu1108=)
c.3210G>C (p.Leu1070=)
c.2772G>C (p.Leu924=)
n.4040G>C
3g.46999963G=CA1362362945NBEAL2c.3864G= (p.Leu1288=)
c.3762G= (p.Leu1254=)
n.201G=
c.1960-233G=
c.336G= (p.Leu112=)
c.3783G= (p.Leu1261=)
c.3843G= (p.Leu1281=)
c.3495G= (p.Leu1165=)
c.3324G= (p.Leu1108=)
c.3210G= (p.Leu1070=)
c.2772G= (p.Leu924=)
n.4040G=
3g.46999963G>TCA433598128NBEAL2c.3864G>T (p.Leu1288=)
c.3762G>T (p.Leu1254=)
n.201G>T
c.1960-233G>T
c.336G>T (p.Leu112=)
c.3783G>T (p.Leu1261=)
c.3843G>T (p.Leu1281=)
c.3495G>T (p.Leu1165=)
c.3324G>T (p.Leu1108=)
c.3210G>T (p.Leu1070=)
c.2772G>T (p.Leu924=)
n.4040G>T
3g.46999964A=CA1362362946NBEAL2c.3865A= (p.Thr1289=)
c.3763A= (p.Thr1255=)
n.202A=
c.1960-232A=
c.337A= (p.Thr113=)
c.3784A= (p.Thr1262=)
c.3844A= (p.Thr1282=)
c.3496A= (p.Thr1166=)
c.3325A= (p.Thr1109=)
c.3211A= (p.Thr1071=)
c.2773A= (p.Thr925=)
n.4041A=
3g.46999964A>CCA352516251NBEAL2c.3865A>C (p.Thr1289Pro)
c.3763A>C (p.Thr1255Pro)
n.202A>C
c.1960-232A>C
c.337A>C (p.Thr113Pro)
c.3784A>C (p.Thr1262Pro)
c.3844A>C (p.Thr1282Pro)
c.3496A>C (p.Thr1166Pro)
c.3325A>C (p.Thr1109Pro)
c.3211A>C (p.Thr1071Pro)
c.2773A>C (p.Thr925Pro)
n.4041A>C
 dbSNP
3g.46999964A>GCA352516253NBEAL2c.3865A>G (p.Thr1289Ala)
c.3763A>G (p.Thr1255Ala)
n.202A>G
c.1960-232A>G
c.337A>G (p.Thr113Ala)
c.3784A>G (p.Thr1262Ala)
c.3844A>G (p.Thr1282Ala)
c.3496A>G (p.Thr1166Ala)
c.3325A>G (p.Thr1109Ala)
c.3211A>G (p.Thr1071Ala)
c.2773A>G (p.Thr925Ala)
n.4041A>G
 dbSNP gnomAD v2 gnomAD v4 COSMIC
3g.46999964A>TCA352516252NBEAL2c.3865A>T (p.Thr1289Ser)
c.3763A>T (p.Thr1255Ser)
n.202A>T
c.1960-232A>T
c.337A>T (p.Thr113Ser)
c.3784A>T (p.Thr1262Ser)
c.3844A>T (p.Thr1282Ser)
c.3496A>T (p.Thr1166Ser)
c.3325A>T (p.Thr1109Ser)
c.3211A>T (p.Thr1071Ser)
c.2773A>T (p.Thr925Ser)
n.4041A>T
3g.46999965C>ACA352516254NBEAL2c.3866C>A (p.Thr1289Asn)
c.3764C>A (p.Thr1255Asn)
n.203C>A
c.1960-231C>A
c.338C>A (p.Thr113Asn)
c.3785C>A (p.Thr1262Asn)
c.3845C>A (p.Thr1282Asn)
c.3497C>A (p.Thr1166Asn)
c.3326C>A (p.Thr1109Asn)
c.3212C>A (p.Thr1071Asn)
c.2774C>A (p.Thr925Asn)
n.4042C>A
 dbSNP gnomAD v2 gnomAD v4
3g.46999965C=CA1362362947NBEAL2c.3866C= (p.Thr1289=)
c.3764C= (p.Thr1255=)
n.203C=
c.1960-231C=
c.338C= (p.Thr113=)
c.3785C= (p.Thr1262=)
c.3845C= (p.Thr1282=)
c.3497C= (p.Thr1166=)
c.3326C= (p.Thr1109=)
c.3212C= (p.Thr1071=)
c.2774C= (p.Thr925=)
n.4042C=
3g.46999965C>GCA352516255NBEAL2c.3866C>G (p.Thr1289Ser)
c.3764C>G (p.Thr1255Ser)
n.203C>G
c.1960-231C>G
c.338C>G (p.Thr113Ser)
c.3785C>G (p.Thr1262Ser)
c.3845C>G (p.Thr1282Ser)
c.3497C>G (p.Thr1166Ser)
c.3326C>G (p.Thr1109Ser)
c.3212C>G (p.Thr1071Ser)
c.2774C>G (p.Thr925Ser)
n.4042C>G
 dbSNP
3g.46999965C>TCA2361093NBEAL2c.3866C>T (p.Thr1289Ile)
c.3764C>T (p.Thr1255Ile)
n.203C>T
c.1960-231C>T
c.338C>T (p.Thr113Ile)
c.3785C>T (p.Thr1262Ile)
c.3845C>T (p.Thr1282Ile)
c.3497C>T (p.Thr1166Ile)
c.3326C>T (p.Thr1109Ile)
c.3212C>T (p.Thr1071Ile)
c.2774C>T (p.Thr925Ile)
n.4042C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.46999966C>ACA433598129NBEAL2c.3867C>A (p.Thr1289=)
c.3765C>A (p.Thr1255=)
n.204C>A
c.1960-230C>A
c.339C>A (p.Thr113=)
c.3786C>A (p.Thr1262=)
c.3846C>A (p.Thr1282=)
c.3498C>A (p.Thr1166=)
c.3327C>A (p.Thr1109=)
c.3213C>A (p.Thr1071=)
c.2775C>A (p.Thr925=)
n.4043C>A
3g.46999966C>GCA433598133NBEAL2c.3867C>G (p.Thr1289=)
c.3765C>G (p.Thr1255=)
n.204C>G
c.1960-230C>G
c.339C>G (p.Thr113=)
c.3786C>G (p.Thr1262=)
c.3846C>G (p.Thr1282=)
c.3498C>G (p.Thr1166=)
c.3327C>G (p.Thr1109=)
c.3213C>G (p.Thr1071=)
c.2775C>G (p.Thr925=)
n.4043C>G
 gnomAD v4
3g.46999966C>TCA433598131NBEAL2c.3867C>T (p.Thr1289=)
c.3765C>T (p.Thr1255=)
n.204C>T
c.1960-230C>T
c.339C>T (p.Thr113=)
c.3786C>T (p.Thr1262=)
c.3846C>T (p.Thr1282=)
c.3498C>T (p.Thr1166=)
c.3327C>T (p.Thr1109=)
c.3213C>T (p.Thr1071=)
c.2775C>T (p.Thr925=)
n.4043C>T
 gnomAD v4
3g.46999967C>ACA433598135NBEAL2c.3868C>A (p.Arg1290=)
c.3766C>A (p.Arg1256=)
n.205C>A
c.1960-229C>A
c.340C>A (p.Arg114=)
c.3787C>A (p.Arg1263=)
c.3847C>A (p.Arg1283=)
c.3499C>A (p.Arg1167=)
c.3328C>A (p.Arg1110=)
c.3214C>A (p.Arg1072=)
c.2776C>A (p.Arg926=)
n.4044C>A
3g.46999967C=CA1362362948NBEAL2c.3868C= (p.Arg1290=)
c.3766C= (p.Arg1256=)
n.205C=
c.1960-229C=
c.340C= (p.Arg114=)
c.3787C= (p.Arg1263=)
c.3847C= (p.Arg1283=)
c.3499C= (p.Arg1167=)
c.3328C= (p.Arg1110=)
c.3214C= (p.Arg1072=)
c.2776C= (p.Arg926=)
n.4044C=
3g.46999967C>GCA352516256NBEAL2c.3868C>G (p.Arg1290Gly)
c.3766C>G (p.Arg1256Gly)
n.205C>G
c.1960-229C>G
c.340C>G (p.Arg114Gly)
c.3787C>G (p.Arg1263Gly)
c.3847C>G (p.Arg1283Gly)
c.3499C>G (p.Arg1167Gly)
c.3328C>G (p.Arg1110Gly)
c.3214C>G (p.Arg1072Gly)
c.2776C>G (p.Arg926Gly)
n.4044C>G
3g.46999967C>TCA352516257NBEAL2c.3868C>T (p.Arg1290Trp)
c.3766C>T (p.Arg1256Trp)
n.205C>T
c.1960-229C>T
c.340C>T (p.Arg114Trp)
c.3787C>T (p.Arg1263Trp)
c.3847C>T (p.Arg1283Trp)
c.3499C>T (p.Arg1167Trp)
c.3328C>T (p.Arg1110Trp)
c.3214C>T (p.Arg1072Trp)
c.2776C>T (p.Arg926Trp)
n.4044C>T
 dbSNP gnomAD v2 gnomAD v4 COSMIC
3g.46999968G>ACA2361094NBEAL2c.3869G>A (p.Arg1290Gln)
c.3767G>A (p.Arg1256Gln)
n.206G>A
c.1960-228G>A
c.341G>A (p.Arg114Gln)
c.3788G>A (p.Arg1263Gln)
c.3848G>A (p.Arg1283Gln)
c.3500G>A (p.Arg1167Gln)
c.3329G>A (p.Arg1110Gln)
c.3215G>A (p.Arg1072Gln)
c.2777G>A (p.Arg926Gln)
n.4045G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.46999968G>CCA352516258NBEAL2c.3869G>C (p.Arg1290Pro)
c.3767G>C (p.Arg1256Pro)
n.206G>C
c.1960-228G>C
c.341G>C (p.Arg114Pro)
c.3788G>C (p.Arg1263Pro)
c.3848G>C (p.Arg1283Pro)
c.3500G>C (p.Arg1167Pro)
c.3329G>C (p.Arg1110Pro)
c.3215G>C (p.Arg1072Pro)
c.2777G>C (p.Arg926Pro)
n.4045G>C
3g.46999968G=CA1362362949NBEAL2c.3869G= (p.Arg1290=)
c.3767G= (p.Arg1256=)
n.206G=
c.1960-228G=
c.341G= (p.Arg114=)
c.3788G= (p.Arg1263=)
c.3848G= (p.Arg1283=)
c.3500G= (p.Arg1167=)
c.3329G= (p.Arg1110=)
c.3215G= (p.Arg1072=)
c.2777G= (p.Arg926=)
n.4045G=
3g.46999968G>TCA352516259NBEAL2c.3869G>T (p.Arg1290Leu)
c.3767G>T (p.Arg1256Leu)
n.206G>T
c.1960-228G>T
c.341G>T (p.Arg114Leu)
c.3788G>T (p.Arg1263Leu)
c.3848G>T (p.Arg1283Leu)
c.3500G>T (p.Arg1167Leu)
c.3329G>T (p.Arg1110Leu)
c.3215G>T (p.Arg1072Leu)
c.2777G>T (p.Arg926Leu)
n.4045G>T
3g.46999969G>ACA433598136NBEAL2c.3870G>A (p.Arg1290=)
c.3768G>A (p.Arg1256=)
n.207G>A
c.1960-227G>A
c.342G>A (p.Arg114=)
c.3789G>A (p.Arg1263=)
c.3849G>A (p.Arg1283=)
c.3501G>A (p.Arg1167=)
c.3330G>A (p.Arg1110=)
c.3216G>A (p.Arg1072=)
c.2778G>A (p.Arg926=)
n.4046G>A
 dbSNP gnomAD v2 gnomAD v4
3g.46999969G>CCA433598137NBEAL2c.3870G>C (p.Arg1290=)
c.3768G>C (p.Arg1256=)
n.207G>C
c.1960-227G>C
c.342G>C (p.Arg114=)
c.3789G>C (p.Arg1263=)
c.3849G>C (p.Arg1283=)
c.3501G>C (p.Arg1167=)
c.3330G>C (p.Arg1110=)
c.3216G>C (p.Arg1072=)
c.2778G>C (p.Arg926=)
n.4046G>C
3g.46999969G=CA1362362950NBEAL2c.3870G= (p.Arg1290=)
c.3768G= (p.Arg1256=)
n.207G=
c.1960-227G=
c.342G= (p.Arg114=)
c.3789G= (p.Arg1263=)
c.3849G= (p.Arg1283=)
c.3501G= (p.Arg1167=)
c.3330G= (p.Arg1110=)
c.3216G= (p.Arg1072=)
c.2778G= (p.Arg926=)
n.4046G=
3g.46999969G>TCA433598138NBEAL2c.3870G>T (p.Arg1290=)
c.3768G>T (p.Arg1256=)
n.207G>T
c.1960-227G>T
c.342G>T (p.Arg114=)
c.3789G>T (p.Arg1263=)
c.3849G>T (p.Arg1283=)
c.3501G>T (p.Arg1167=)
c.3330G>T (p.Arg1110=)
c.3216G>T (p.Arg1072=)
c.2778G>T (p.Arg926=)
n.4046G>T
3g.46999970C>ACA352516260NBEAL2c.3871C>A (p.Leu1291Ile)
c.3769C>A (p.Leu1257Ile)
n.208C>A
c.1960-226C>A
c.343C>A (p.Leu115Ile)
c.3790C>A (p.Leu1264Ile)
c.3850C>A (p.Leu1284Ile)
c.3502C>A (p.Leu1168Ile)
c.3331C>A (p.Leu1111Ile)
c.3217C>A (p.Leu1073Ile)
c.2779C>A (p.Leu927Ile)
n.4047C>A
3g.46999970C=CA1362362951NBEAL2c.3871C= (p.Leu1291=)
c.3769C= (p.Leu1257=)
n.208C=
c.1960-226C=
c.343C= (p.Leu115=)
c.3790C= (p.Leu1264=)
c.3850C= (p.Leu1284=)
c.3502C= (p.Leu1168=)
c.3331C= (p.Leu1111=)
c.3217C= (p.Leu1073=)
c.2779C= (p.Leu927=)
n.4047C=
3g.46999970C>GCA2361095NBEAL2c.3871C>G (p.Leu1291Val)
c.3769C>G (p.Leu1257Val)
n.208C>G
c.1960-226C>G
c.343C>G (p.Leu115Val)
c.3790C>G (p.Leu1264Val)
c.3850C>G (p.Leu1284Val)
c.3502C>G (p.Leu1168Val)
c.3331C>G (p.Leu1111Val)
c.3217C>G (p.Leu1073Val)
c.2779C>G (p.Leu927Val)
n.4047C>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.46999970C>TCA433598139NBEAL2c.3871C>T (p.Leu1291=)
c.3769C>T (p.Leu1257=)
n.208C>T
c.1960-226C>T
c.343C>T (p.Leu115=)
c.3790C>T (p.Leu1264=)
c.3850C>T (p.Leu1284=)
c.3502C>T (p.Leu1168=)
c.3331C>T (p.Leu1111=)
c.3217C>T (p.Leu1073=)
c.2779C>T (p.Leu927=)
n.4047C>T
3g.46999971T>ACA352516261NBEAL2c.3872T>A (p.Leu1291Gln)
c.3770T>A (p.Leu1257Gln)
n.209T>A
c.1960-225T>A
c.344T>A (p.Leu115Gln)
c.3791T>A (p.Leu1264Gln)
c.3851T>A (p.Leu1284Gln)
c.3503T>A (p.Leu1168Gln)
c.3332T>A (p.Leu1111Gln)
c.3218T>A (p.Leu1073Gln)
c.2780T>A (p.Leu927Gln)
n.4048T>A
3g.46999971T>CCA352516262NBEAL2c.3872T>C (p.Leu1291Pro)
c.3770T>C (p.Leu1257Pro)
n.209T>C
c.1960-225T>C
c.344T>C (p.Leu115Pro)
c.3791T>C (p.Leu1264Pro)
c.3851T>C (p.Leu1284Pro)
c.3503T>C (p.Leu1168Pro)
c.3332T>C (p.Leu1111Pro)
c.3218T>C (p.Leu1073Pro)
c.2780T>C (p.Leu927Pro)
n.4048T>C
 gnomAD v4
3g.46999971T>GCA352516263NBEAL2c.3872T>G (p.Leu1291Arg)
c.3770T>G (p.Leu1257Arg)
n.209T>G
c.1960-225T>G
c.344T>G (p.Leu115Arg)
c.3791T>G (p.Leu1264Arg)
c.3851T>G (p.Leu1284Arg)
c.3503T>G (p.Leu1168Arg)
c.3332T>G (p.Leu1111Arg)
c.3218T>G (p.Leu1073Arg)
c.2780T>G (p.Leu927Arg)
n.4048T>G
3g.46999972A=CA1362362952NBEAL2c.3873A= (p.Leu1291=)
c.3771A= (p.Leu1257=)
n.210A=
c.1960-224A=
c.345A= (p.Leu115=)
c.3792A= (p.Leu1264=)
c.3852A= (p.Leu1284=)
c.3504A= (p.Leu1168=)
c.3333A= (p.Leu1111=)
c.3219A= (p.Leu1073=)
c.2781A= (p.Leu927=)
n.4049A=
3g.46999972A>CCA433598144NBEAL2c.3873A>C (p.Leu1291=)
c.3771A>C (p.Leu1257=)
n.210A>C
c.1960-224A>C
c.345A>C (p.Leu115=)
c.3792A>C (p.Leu1264=)
c.3852A>C (p.Leu1284=)
c.3504A>C (p.Leu1168=)
c.3333A>C (p.Leu1111=)
c.3219A>C (p.Leu1073=)
c.2781A>C (p.Leu927=)
n.4049A>C
3g.46999972A>GCA433598145NBEAL2c.3873A>G (p.Leu1291=)
c.3771A>G (p.Leu1257=)
n.210A>G
c.1960-224A>G
c.345A>G (p.Leu115=)
c.3792A>G (p.Leu1264=)
c.3852A>G (p.Leu1284=)
c.3504A>G (p.Leu1168=)
c.3333A>G (p.Leu1111=)
c.3219A>G (p.Leu1073=)
c.2781A>G (p.Leu927=)
n.4049A>G
 dbSNP gnomAD v2 gnomAD v4
3g.46999972A>TCA433598146NBEAL2c.3873A>T (p.Leu1291=)
c.3771A>T (p.Leu1257=)
n.210A>T
c.1960-224A>T
c.345A>T (p.Leu115=)
c.3792A>T (p.Leu1264=)
c.3852A>T (p.Leu1284=)
c.3504A>T (p.Leu1168=)
c.3333A>T (p.Leu1111=)
c.3219A>T (p.Leu1073=)
c.2781A>T (p.Leu927=)
n.4049A>T
3g.46999973T>ACA352516264NBEAL2c.3874T>A (p.Tyr1292Asn)
c.3772T>A (p.Tyr1258Asn)
n.211T>A
c.1960-223T>A
c.346T>A (p.Tyr116Asn)
c.3793T>A (p.Tyr1265Asn)
c.3853T>A (p.Tyr1285Asn)
c.3505T>A (p.Tyr1169Asn)
c.3334T>A (p.Tyr1112Asn)
c.3220T>A (p.Tyr1074Asn)
c.2782T>A (p.Tyr928Asn)
n.4050T>A
3g.46999973T>CCA352516265NBEAL2c.3874T>C (p.Tyr1292His)
c.3772T>C (p.Tyr1258His)
n.211T>C
c.1960-223T>C
c.346T>C (p.Tyr116His)
c.3793T>C (p.Tyr1265His)
c.3853T>C (p.Tyr1285His)
c.3505T>C (p.Tyr1169His)
c.3334T>C (p.Tyr1112His)
c.3220T>C (p.Tyr1074His)
c.2782T>C (p.Tyr928His)
n.4050T>C
3g.46999973T>GCA352516266NBEAL2c.3874T>G (p.Tyr1292Asp)
c.3772T>G (p.Tyr1258Asp)
n.211T>G
c.1960-223T>G
c.346T>G (p.Tyr116Asp)
c.3793T>G (p.Tyr1265Asp)
c.3853T>G (p.Tyr1285Asp)
c.3505T>G (p.Tyr1169Asp)
c.3334T>G (p.Tyr1112Asp)
c.3220T>G (p.Tyr1074Asp)
c.2782T>G (p.Tyr928Asp)
n.4050T>G
3g.46999974A=CA1362362953NBEAL2c.3875A= (p.Tyr1292=)
c.3773A= (p.Tyr1258=)
n.212A=
c.1960-222A=
c.347A= (p.Tyr116=)
c.3794A= (p.Tyr1265=)
c.3854A= (p.Tyr1285=)
c.3506A= (p.Tyr1169=)
c.3335A= (p.Tyr1112=)
c.3221A= (p.Tyr1074=)
c.2783A= (p.Tyr928=)
n.4051A=
3g.46999974A>CCA352516267NBEAL2c.3875A>C (p.Tyr1292Ser)
c.3773A>C (p.Tyr1258Ser)
n.212A>C
c.1960-222A>C
c.347A>C (p.Tyr116Ser)
c.3794A>C (p.Tyr1265Ser)
c.3854A>C (p.Tyr1285Ser)
c.3506A>C (p.Tyr1169Ser)
c.3335A>C (p.Tyr1112Ser)
c.3221A>C (p.Tyr1074Ser)
c.2783A>C (p.Tyr928Ser)
n.4051A>C
3g.46999974A>GCA73817541NBEAL2c.3875A>G (p.Tyr1292Cys)
c.3773A>G (p.Tyr1258Cys)
n.212A>G
c.1960-222A>G
c.347A>G (p.Tyr116Cys)
c.3794A>G (p.Tyr1265Cys)
c.3854A>G (p.Tyr1285Cys)
c.3506A>G (p.Tyr1169Cys)
c.3335A>G (p.Tyr1112Cys)
c.3221A>G (p.Tyr1074Cys)
c.2783A>G (p.Tyr928Cys)
n.4051A>G
 dbSNP gnomAD v3 gnomAD v4
3g.46999974A>TCA352516268NBEAL2c.3875A>T (p.Tyr1292Phe)
c.3773A>T (p.Tyr1258Phe)
n.212A>T
c.1960-222A>T
c.347A>T (p.Tyr116Phe)
c.3794A>T (p.Tyr1265Phe)
c.3854A>T (p.Tyr1285Phe)
c.3506A>T (p.Tyr1169Phe)
c.3335A>T (p.Tyr1112Phe)
c.3221A>T (p.Tyr1074Phe)
c.2783A>T (p.Tyr928Phe)
n.4051A>T
3g.46999975T>ACA352516269NBEAL2c.3876T>A (p.Tyr1292Ter)
c.3774T>A (p.Tyr1258Ter)
n.213T>A
c.1960-221T>A
c.348T>A (p.Tyr116Ter)
c.3795T>A (p.Tyr1265Ter)
c.3855T>A (p.Tyr1285Ter)
c.3507T>A (p.Tyr1169Ter)
c.3336T>A (p.Tyr1112Ter)
c.3222T>A (p.Tyr1074Ter)
c.2784T>A (p.Tyr928Ter)
n.4052T>A
3g.46999975T>CCA2361096NBEAL2c.3876T>C (p.Tyr1292=)
c.3774T>C (p.Tyr1258=)
n.213T>C
c.1960-221T>C
c.348T>C (p.Tyr116=)
c.3795T>C (p.Tyr1265=)
c.3855T>C (p.Tyr1285=)
c.3507T>C (p.Tyr1169=)
c.3336T>C (p.Tyr1112=)
c.3222T>C (p.Tyr1074=)
c.2784T>C (p.Tyr928=)
n.4052T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.46999975T>GCA352516270NBEAL2c.3876T>G (p.Tyr1292Ter)
c.3774T>G (p.Tyr1258Ter)
n.213T>G
c.1960-221T>G
c.348T>G (p.Tyr116Ter)
c.3795T>G (p.Tyr1265Ter)
c.3855T>G (p.Tyr1285Ter)
c.3507T>G (p.Tyr1169Ter)
c.3336T>G (p.Tyr1112Ter)
c.3222T>G (p.Tyr1074Ter)
c.2784T>G (p.Tyr928Ter)
n.4052T>G
3g.46999975T=CA1362362954NBEAL2c.3876T= (p.Tyr1292=)
c.3774T= (p.Tyr1258=)
n.213T=
c.1960-221T=
c.348T= (p.Tyr116=)
c.3795T= (p.Tyr1265=)
c.3855T= (p.Tyr1285=)
c.3507T= (p.Tyr1169=)
c.3336T= (p.Tyr1112=)
c.3222T= (p.Tyr1074=)
c.2784T= (p.Tyr928=)
n.4052T=
3g.46999976G>ACA352516271NBEAL2c.3877G>A (p.Val1293Ile)
c.3775G>A (p.Val1259Ile)
n.214G>A
c.1960-220G>A
c.349G>A (p.Val117Ile)
c.3796G>A (p.Val1266Ile)
c.3856G>A (p.Val1286Ile)
c.3508G>A (p.Val1170Ile)
c.3337G>A (p.Val1113Ile)
c.3223G>A (p.Val1075Ile)
c.2785G>A (p.Val929Ile)
n.4053G>A
3g.46999976G>CCA352516272NBEAL2c.3877G>C (p.Val1293Leu)
c.3775G>C (p.Val1259Leu)
n.214G>C
c.1960-220G>C
c.349G>C (p.Val117Leu)
c.3796G>C (p.Val1266Leu)
c.3856G>C (p.Val1286Leu)
c.3508G>C (p.Val1170Leu)
c.3337G>C (p.Val1113Leu)
c.3223G>C (p.Val1075Leu)
c.2785G>C (p.Val929Leu)
n.4053G>C
3g.46999976G>TCA352516273NBEAL2c.3877G>T (p.Val1293Phe)
c.3775G>T (p.Val1259Phe)
n.214G>T
c.1960-220G>T
c.349G>T (p.Val117Phe)
c.3796G>T (p.Val1266Phe)
c.3856G>T (p.Val1286Phe)
c.3508G>T (p.Val1170Phe)
c.3337G>T (p.Val1113Phe)
c.3223G>T (p.Val1075Phe)
c.2785G>T (p.Val929Phe)
n.4053G>T
3g.46999977T>ACA352516274NBEAL2c.3878T>A (p.Val1293Asp)
c.3776T>A (p.Val1259Asp)
n.215T>A
c.1960-219T>A
c.350T>A (p.Val117Asp)
c.3797T>A (p.Val1266Asp)
c.3857T>A (p.Val1286Asp)
c.3509T>A (p.Val1170Asp)
c.3338T>A (p.Val1113Asp)
c.3224T>A (p.Val1075Asp)
c.2786T>A (p.Val929Asp)
n.4054T>A
3g.46999977T>CCA352516275NBEAL2c.3878T>C (p.Val1293Ala)
c.3776T>C (p.Val1259Ala)
n.215T>C
c.1960-219T>C
c.350T>C (p.Val117Ala)
c.3797T>C (p.Val1266Ala)
c.3857T>C (p.Val1286Ala)
c.3509T>C (p.Val1170Ala)
c.3338T>C (p.Val1113Ala)
c.3224T>C (p.Val1075Ala)
c.2786T>C (p.Val929Ala)
n.4054T>C
3g.46999977T>GCA352516276NBEAL2c.3878T>G (p.Val1293Gly)
c.3776T>G (p.Val1259Gly)
n.215T>G
c.1960-219T>G
c.350T>G (p.Val117Gly)
c.3797T>G (p.Val1266Gly)
c.3857T>G (p.Val1286Gly)
c.3509T>G (p.Val1170Gly)
c.3338T>G (p.Val1113Gly)
c.3224T>G (p.Val1075Gly)
c.2786T>G (p.Val929Gly)
n.4054T>G
3g.46999978C>ACA433598153NBEAL2c.3879C>A (p.Val1293=)
c.3777C>A (p.Val1259=)
n.216C>A
c.1960-218C>A
c.351C>A (p.Val117=)
c.3798C>A (p.Val1266=)
c.3858C>A (p.Val1286=)
c.3510C>A (p.Val1170=)
c.3339C>A (p.Val1113=)
c.3225C>A (p.Val1075=)
c.2787C>A (p.Val929=)
n.4055C>A
3g.46999978C=CA1362362955NBEAL2c.3879C= (p.Val1293=)
c.3777C= (p.Val1259=)
n.216C=
c.1960-218C=
c.351C= (p.Val117=)
c.3798C= (p.Val1266=)
c.3858C= (p.Val1286=)
c.3510C= (p.Val1170=)
c.3339C= (p.Val1113=)
c.3225C= (p.Val1075=)
c.2787C= (p.Val929=)
n.4055C=
3g.46999978C>GCA433598154NBEAL2c.3879C>G (p.Val1293=)
c.3777C>G (p.Val1259=)
n.216C>G
c.1960-218C>G
c.351C>G (p.Val117=)
c.3798C>G (p.Val1266=)
c.3858C>G (p.Val1286=)
c.3510C>G (p.Val1170=)
c.3339C>G (p.Val1113=)
c.3225C>G (p.Val1075=)
c.2787C>G (p.Val929=)
n.4055C>G
3g.46999978C>TCA2361097NBEAL2c.3879C>T (p.Val1293=)
c.3777C>T (p.Val1259=)
n.216C>T
c.1960-218C>T
c.351C>T (p.Val117=)
c.3798C>T (p.Val1266=)
c.3858C>T (p.Val1286=)
c.3510C>T (p.Val1170=)
c.3339C>T (p.Val1113=)
c.3225C>T (p.Val1075=)
c.2787C>T (p.Val929=)
n.4055C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.46999979C>ACA352516278NBEAL2c.3880C>A (p.Leu1294Met)
c.3778C>A (p.Leu1260Met)
n.217C>A
c.1960-217C>A
c.352C>A (p.Leu118Met)
c.3799C>A (p.Leu1267Met)
c.3859C>A (p.Leu1287Met)
c.3511C>A (p.Leu1171Met)
c.3340C>A (p.Leu1114Met)
c.3226C>A (p.Leu1076Met)
c.2788C>A (p.Leu930Met)
n.4056C>A
3g.46999979C=CA1362362956NBEAL2c.3880C= (p.Leu1294=)
c.3778C= (p.Leu1260=)
n.217C=
c.1960-217C=
c.352C= (p.Leu118=)
c.3799C= (p.Leu1267=)
c.3859C= (p.Leu1287=)
c.3511C= (p.Leu1171=)
c.3340C= (p.Leu1114=)
c.3226C= (p.Leu1076=)
c.2788C= (p.Leu930=)
n.4056C=
3g.46999979C>GCA352516277NBEAL2c.3880C>G (p.Leu1294Val)
c.3778C>G (p.Leu1260Val)
n.217C>G
c.1960-217C>G
c.352C>G (p.Leu118Val)
c.3799C>G (p.Leu1267Val)
c.3859C>G (p.Leu1287Val)
c.3511C>G (p.Leu1171Val)
c.3340C>G (p.Leu1114Val)
c.3226C>G (p.Leu1076Val)
c.2788C>G (p.Leu930Val)
n.4056C>G
3g.46999979C>TCA73817558NBEAL2c.3880C>T (p.Leu1294=)
c.3778C>T (p.Leu1260=)
n.217C>T
c.1960-217C>T
c.352C>T (p.Leu118=)
c.3799C>T (p.Leu1267=)
c.3859C>T (p.Leu1287=)
c.3511C>T (p.Leu1171=)
c.3340C>T (p.Leu1114=)
c.3226C>T (p.Leu1076=)
c.2788C>T (p.Leu930=)
n.4056C>T
 dbSNP gnomAD v3 gnomAD v4
3g.46999980T>ACA352516279NBEAL2c.3881T>A (p.Leu1294Gln)
c.3779T>A (p.Leu1260Gln)
n.218T>A
c.1960-216T>A
c.353T>A (p.Leu118Gln)
c.3800T>A (p.Leu1267Gln)
c.3860T>A (p.Leu1287Gln)
c.3512T>A (p.Leu1171Gln)
c.3341T>A (p.Leu1114Gln)
c.3227T>A (p.Leu1076Gln)
c.2789T>A (p.Leu930Gln)
n.4057T>A
3g.46999980T>CCA352516280NBEAL2c.3881T>C (p.Leu1294Pro)
c.3779T>C (p.Leu1260Pro)
n.218T>C
c.1960-216T>C
c.353T>C (p.Leu118Pro)
c.3800T>C (p.Leu1267Pro)
c.3860T>C (p.Leu1287Pro)
c.3512T>C (p.Leu1171Pro)
c.3341T>C (p.Leu1114Pro)
c.3227T>C (p.Leu1076Pro)
c.2789T>C (p.Leu930Pro)
n.4057T>C
 gnomAD v4
3g.46999980T>GCA352516281NBEAL2c.3881T>G (p.Leu1294Arg)
c.3779T>G (p.Leu1260Arg)
n.218T>G
c.1960-216T>G
c.353T>G (p.Leu118Arg)
c.3800T>G (p.Leu1267Arg)
c.3860T>G (p.Leu1287Arg)
c.3512T>G (p.Leu1171Arg)
c.3341T>G (p.Leu1114Arg)
c.3227T>G (p.Leu1076Arg)
c.2789T>G (p.Leu930Arg)
n.4057T>G
3g.46999981G>ACA73817565NBEAL2c.3882G>A (p.Leu1294=)
c.3780G>A (p.Leu1260=)
n.219G>A
c.1960-215G>A
c.354G>A (p.Leu118=)
c.3801G>A (p.Leu1267=)
c.3861G>A (p.Leu1287=)
c.3513G>A (p.Leu1171=)
c.3342G>A (p.Leu1114=)
c.3228G>A (p.Leu1076=)
c.2790G>A (p.Leu930=)
n.4058G>A
 dbSNP gnomAD v3 gnomAD v4
3g.46999981G>CCA433598158NBEAL2c.3882G>C (p.Leu1294=)
c.3780G>C (p.Leu1260=)
n.219G>C
c.1960-215G>C
c.354G>C (p.Leu118=)
c.3801G>C (p.Leu1267=)
c.3861G>C (p.Leu1287=)
c.3513G>C (p.Leu1171=)
c.3342G>C (p.Leu1114=)
c.3228G>C (p.Leu1076=)
c.2790G>C (p.Leu930=)
n.4058G>C
3g.46999981G=CA1362362957NBEAL2c.3882G= (p.Leu1294=)
c.3780G= (p.Leu1260=)
n.219G=
c.1960-215G=
c.354G= (p.Leu118=)
c.3801G= (p.Leu1267=)
c.3861G= (p.Leu1287=)
c.3513G= (p.Leu1171=)
c.3342G= (p.Leu1114=)
c.3228G= (p.Leu1076=)
c.2790G= (p.Leu930=)
n.4058G=
3g.46999981G>TCA433598159NBEAL2c.3882G>T (p.Leu1294=)
c.3780G>T (p.Leu1260=)
n.219G>T
c.1960-215G>T
c.354G>T (p.Leu118=)
c.3801G>T (p.Leu1267=)
c.3861G>T (p.Leu1287=)
c.3513G>T (p.Leu1171=)
c.3342G>T (p.Leu1114=)
c.3228G>T (p.Leu1076=)
c.2790G>T (p.Leu930=)
n.4058G>T
3g.46999982G>ACA352516282NBEAL2c.3883G>A (p.Glu1295Lys)
c.3781G>A (p.Glu1261Lys)
n.220G>A
c.1960-214G>A
c.355G>A (p.Glu119Lys)
c.3802G>A (p.Glu1268Lys)
c.3862G>A (p.Glu1288Lys)
c.3514G>A (p.Glu1172Lys)
c.3343G>A (p.Glu1115Lys)
c.3229G>A (p.Glu1077Lys)
c.2791G>A (p.Glu931Lys)
n.4059G>A
3g.46999982G>CCA352516283NBEAL2c.3883G>C (p.Glu1295Gln)
c.3781G>C (p.Glu1261Gln)
n.220G>C
c.1960-214G>C
c.355G>C (p.Glu119Gln)
c.3802G>C (p.Glu1268Gln)
c.3862G>C (p.Glu1288Gln)
c.3514G>C (p.Glu1172Gln)
c.3343G>C (p.Glu1115Gln)
c.3229G>C (p.Glu1077Gln)
c.2791G>C (p.Glu931Gln)
n.4059G>C
 dbSNP gnomAD v2 gnomAD v4
3g.46999982G=CA1362362958NBEAL2c.3883G= (p.Glu1295=)
c.3781G= (p.Glu1261=)
n.220G=
c.1960-214G=
c.355G= (p.Glu119=)
c.3802G= (p.Glu1268=)
c.3862G= (p.Glu1288=)
c.3514G= (p.Glu1172=)
c.3343G= (p.Glu1115=)
c.3229G= (p.Glu1077=)
c.2791G= (p.Glu931=)
n.4059G=
3g.46999982G>TCA352516284NBEAL2c.3883G>T (p.Glu1295Ter)
c.3781G>T (p.Glu1261Ter)
n.220G>T
c.1960-214G>T
c.355G>T (p.Glu119Ter)
c.3802G>T (p.Glu1268Ter)
c.3862G>T (p.Glu1288Ter)
c.3514G>T (p.Glu1172Ter)
c.3343G>T (p.Glu1115Ter)
c.3229G>T (p.Glu1077Ter)
c.2791G>T (p.Glu931Ter)
n.4059G>T
3g.46999983A>CCA352516287NBEAL2c.3884A>C (p.Glu1295Ala)
c.3782A>C (p.Glu1261Ala)
n.221A>C
c.1960-213A>C
c.356A>C (p.Glu119Ala)
c.3803A>C (p.Glu1268Ala)
c.3863A>C (p.Glu1288Ala)
c.3515A>C (p.Glu1172Ala)
c.3344A>C (p.Glu1115Ala)
c.3230A>C (p.Glu1077Ala)
c.2792A>C (p.Glu931Ala)
n.4060A>C
3g.46999983A>GCA352516285NBEAL2c.3884A>G (p.Glu1295Gly)
c.3782A>G (p.Glu1261Gly)
n.221A>G
c.1960-213A>G
c.356A>G (p.Glu119Gly)
c.3803A>G (p.Glu1268Gly)
c.3863A>G (p.Glu1288Gly)
c.3515A>G (p.Glu1172Gly)
c.3344A>G (p.Glu1115Gly)
c.3230A>G (p.Glu1077Gly)
c.2792A>G (p.Glu931Gly)
n.4060A>G
3g.46999983A>TCA352516286NBEAL2c.3884A>T (p.Glu1295Val)
c.3782A>T (p.Glu1261Val)
n.221A>T
c.1960-213A>T
c.356A>T (p.Glu119Val)
c.3803A>T (p.Glu1268Val)
c.3863A>T (p.Glu1288Val)
c.3515A>T (p.Glu1172Val)
c.3344A>T (p.Glu1115Val)
c.3230A>T (p.Glu1077Val)
c.2792A>T (p.Glu931Val)
n.4060A>T
3g.46999984G>ACA433598161NBEAL2c.3885G>A (p.Glu1295=)
c.3783G>A (p.Glu1261=)
n.222G>A
c.1960-212G>A
c.357G>A (p.Glu119=)
c.3804G>A (p.Glu1268=)
c.3864G>A (p.Glu1288=)
c.3516G>A (p.Glu1172=)
c.3345G>A (p.Glu1115=)
c.3231G>A (p.Glu1077=)
c.2793G>A (p.Glu931=)
n.4061G>A
 gnomAD v4
3g.46999984G>CCA352516288NBEAL2c.3885G>C (p.Glu1295Asp)
c.3783G>C (p.Glu1261Asp)
n.222G>C
c.1960-212G>C
c.357G>C (p.Glu119Asp)
c.3804G>C (p.Glu1268Asp)
c.3864G>C (p.Glu1288Asp)
c.3516G>C (p.Glu1172Asp)
c.3345G>C (p.Glu1115Asp)
c.3231G>C (p.Glu1077Asp)
c.2793G>C (p.Glu931Asp)
n.4061G>C
3g.46999984G>TCA352516289NBEAL2c.3885G>T (p.Glu1295Asp)
c.3783G>T (p.Glu1261Asp)
n.222G>T
c.1960-212G>T
c.357G>T (p.Glu119Asp)
c.3804G>T (p.Glu1268Asp)
c.3864G>T (p.Glu1288Asp)
c.3516G>T (p.Glu1172Asp)
c.3345G>T (p.Glu1115Asp)
c.3231G>T (p.Glu1077Asp)
c.2793G>T (p.Glu931Asp)
n.4061G>T
3g.46999985G>ACA2361098NBEAL2c.3886G>A (p.Ala1296Thr)
c.3784G>A (p.Ala1262Thr)
n.223G>A
c.1960-211G>A
c.358G>A (p.Ala120Thr)
c.3805G>A (p.Ala1269Thr)
c.3865G>A (p.Ala1289Thr)
c.3517G>A (p.Ala1173Thr)
c.3346G>A (p.Ala1116Thr)
c.3232G>A (p.Ala1078Thr)
c.2794G>A (p.Ala932Thr)
n.4062G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.46999985G>CCA352516290NBEAL2c.3886G>C (p.Ala1296Pro)
c.3784G>C (p.Ala1262Pro)
n.223G>C
c.1960-211G>C
c.358G>C (p.Ala120Pro)
c.3805G>C (p.Ala1269Pro)
c.3865G>C (p.Ala1289Pro)
c.3517G>C (p.Ala1173Pro)
c.3346G>C (p.Ala1116Pro)
c.3232G>C (p.Ala1078Pro)
c.2794G>C (p.Ala932Pro)
n.4062G>C
3g.46999985G=CA1362362959NBEAL2c.3886G= (p.Ala1296=)
c.3784G= (p.Ala1262=)
n.223G=
c.1960-211G=
c.358G= (p.Ala120=)
c.3805G= (p.Ala1269=)
c.3865G= (p.Ala1289=)
c.3517G= (p.Ala1173=)
c.3346G= (p.Ala1116=)
c.3232G= (p.Ala1078=)
c.2794G= (p.Ala932=)
n.4062G=
3g.46999985G>TCA352516291NBEAL2c.3886G>T (p.Ala1296Ser)
c.3784G>T (p.Ala1262Ser)
n.223G>T
c.1960-211G>T
c.358G>T (p.Ala120Ser)
c.3805G>T (p.Ala1269Ser)
c.3865G>T (p.Ala1289Ser)
c.3517G>T (p.Ala1173Ser)
c.3346G>T (p.Ala1116Ser)
c.3232G>T (p.Ala1078Ser)
c.2794G>T (p.Ala932Ser)
n.4062G>T
3g.46999986C>ACA352516292NBEAL2c.3887C>A (p.Ala1296Asp)
c.3785C>A (p.Ala1262Asp)
n.224C>A
c.1960-210C>A
c.359C>A (p.Ala120Asp)
c.3806C>A (p.Ala1269Asp)
c.3866C>A (p.Ala1289Asp)
c.3518C>A (p.Ala1173Asp)
c.3347C>A (p.Ala1116Asp)
c.3233C>A (p.Ala1078Asp)
c.2795C>A (p.Ala932Asp)
n.4063C>A
3g.46999986C>GCA352516294NBEAL2c.3887C>G (p.Ala1296Gly)
c.3785C>G (p.Ala1262Gly)
n.224C>G
c.1960-210C>G
c.359C>G (p.Ala120Gly)
c.3806C>G (p.Ala1269Gly)
c.3866C>G (p.Ala1289Gly)
c.3518C>G (p.Ala1173Gly)
c.3347C>G (p.Ala1116Gly)
c.3233C>G (p.Ala1078Gly)
c.2795C>G (p.Ala932Gly)
n.4063C>G
 gnomAD v4
3g.46999986C>TCA352516293NBEAL2c.3887C>T (p.Ala1296Val)
c.3785C>T (p.Ala1262Val)
n.224C>T
c.1960-210C>T
c.359C>T (p.Ala120Val)
c.3806C>T (p.Ala1269Val)
c.3866C>T (p.Ala1289Val)
c.3518C>T (p.Ala1173Val)
c.3347C>T (p.Ala1116Val)
c.3233C>T (p.Ala1078Val)
c.2795C>T (p.Ala932Val)
n.4063C>T
3g.46999987T>ACA433598162NBEAL2c.3888T>A (p.Ala1296=)
c.3786T>A (p.Ala1262=)
n.225T>A
c.1960-209T>A
c.360T>A (p.Ala120=)
c.3807T>A (p.Ala1269=)
c.3867T>A (p.Ala1289=)
c.3519T>A (p.Ala1173=)
c.3348T>A (p.Ala1116=)
c.3234T>A (p.Ala1078=)
c.2796T>A (p.Ala932=)
n.4064T>A
3g.46999987T>CCA433598163NBEAL2c.3888T>C (p.Ala1296=)
c.3786T>C (p.Ala1262=)
n.225T>C
c.1960-209T>C
c.360T>C (p.Ala120=)
c.3807T>C (p.Ala1269=)
c.3867T>C (p.Ala1289=)
c.3519T>C (p.Ala1173=)
c.3348T>C (p.Ala1116=)
c.3234T>C (p.Ala1078=)
c.2796T>C (p.Ala932=)
n.4064T>C
3g.46999987T>GCA433598164NBEAL2c.3888T>G (p.Ala1296=)
c.3786T>G (p.Ala1262=)
n.225T>G
c.1960-209T>G
c.360T>G (p.Ala120=)
c.3807T>G (p.Ala1269=)
c.3867T>G (p.Ala1289=)
c.3519T>G (p.Ala1173=)
c.3348T>G (p.Ala1116=)
c.3234T>G (p.Ala1078=)
c.2796T>G (p.Ala932=)
n.4064T>G
3g.46999988G>ACA352516295NBEAL2c.3889G>A (p.Ala1297Thr)
c.3787G>A (p.Ala1263Thr)
n.226G>A
c.1960-208G>A
c.361G>A (p.Ala121Thr)
c.3808G>A (p.Ala1270Thr)
c.3868G>A (p.Ala1290Thr)
c.3520G>A (p.Ala1174Thr)
c.3349G>A (p.Ala1117Thr)
c.3235G>A (p.Ala1079Thr)
c.2797G>A (p.Ala933Thr)
n.4065G>A
 gnomAD v4
3g.46999988G>CCA352516296NBEAL2c.3889G>C (p.Ala1297Pro)
c.3787G>C (p.Ala1263Pro)
n.226G>C
c.1960-208G>C
c.361G>C (p.Ala121Pro)
c.3808G>C (p.Ala1270Pro)
c.3868G>C (p.Ala1290Pro)
c.3520G>C (p.Ala1174Pro)
c.3349G>C (p.Ala1117Pro)
c.3235G>C (p.Ala1079Pro)
c.2797G>C (p.Ala933Pro)
n.4065G>C
3g.46999988G=CA1362362960NBEAL2c.3889G= (p.Ala1297=)
c.3787G= (p.Ala1263=)
n.226G=
c.1960-208G=
c.361G= (p.Ala121=)
c.3808G= (p.Ala1270=)
c.3868G= (p.Ala1290=)
c.3520G= (p.Ala1174=)
c.3349G= (p.Ala1117=)
c.3235G= (p.Ala1079=)
c.2797G= (p.Ala933=)
n.4065G=
3g.46999988G>TCA2361099NBEAL2c.3889G>T (p.Ala1297Ser)
c.3787G>T (p.Ala1263Ser)
n.226G>T
c.1960-208G>T
c.361G>T (p.Ala121Ser)
c.3808G>T (p.Ala1270Ser)
c.3868G>T (p.Ala1290Ser)
c.3520G>T (p.Ala1174Ser)
c.3349G>T (p.Ala1117Ser)
c.3235G>T (p.Ala1079Ser)
c.2797G>T (p.Ala933Ser)
n.4065G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.46999989C>ACA352516297NBEAL2c.3890C>A (p.Ala1297Asp)
c.3788C>A (p.Ala1263Asp)
n.227C>A
c.1960-207C>A
c.362C>A (p.Ala121Asp)
c.3809C>A (p.Ala1270Asp)
c.3869C>A (p.Ala1290Asp)
c.3521C>A (p.Ala1174Asp)
c.3350C>A (p.Ala1117Asp)
c.3236C>A (p.Ala1079Asp)
c.2798C>A (p.Ala933Asp)
n.4066C>A
3g.46999989C>GCA352516298NBEAL2c.3890C>G (p.Ala1297Gly)
c.3788C>G (p.Ala1263Gly)
n.227C>G
c.1960-207C>G
c.362C>G (p.Ala121Gly)
c.3809C>G (p.Ala1270Gly)
c.3869C>G (p.Ala1290Gly)
c.3521C>G (p.Ala1174Gly)
c.3350C>G (p.Ala1117Gly)
c.3236C>G (p.Ala1079Gly)
c.2798C>G (p.Ala933Gly)
n.4066C>G
3g.46999989C>TCA352516299NBEAL2c.3890C>T (p.Ala1297Val)
c.3788C>T (p.Ala1263Val)
n.227C>T
c.1960-207C>T
c.362C>T (p.Ala121Val)
c.3809C>T (p.Ala1270Val)
c.3869C>T (p.Ala1290Val)
c.3521C>T (p.Ala1174Val)
c.3350C>T (p.Ala1117Val)
c.3236C>T (p.Ala1079Val)
c.2798C>T (p.Ala933Val)
n.4066C>T
 gnomAD v4
3g.46999990C>ACA433598165NBEAL2c.3891C>A (p.Ala1297=)
c.3789C>A (p.Ala1263=)
n.228C>A
c.1960-206C>A
c.363C>A (p.Ala121=)
c.3810C>A (p.Ala1270=)
c.3870C>A (p.Ala1290=)
c.3522C>A (p.Ala1174=)
c.3351C>A (p.Ala1117=)
c.3237C>A (p.Ala1079=)
c.2799C>A (p.Ala933=)
n.4067C>A
3g.46999990C>GCA433598166NBEAL2c.3891C>G (p.Ala1297=)
c.3789C>G (p.Ala1263=)
n.228C>G
c.1960-206C>G
c.363C>G (p.Ala121=)
c.3810C>G (p.Ala1270=)
c.3870C>G (p.Ala1290=)
c.3522C>G (p.Ala1174=)
c.3351C>G (p.Ala1117=)
c.3237C>G (p.Ala1079=)
c.2799C>G (p.Ala933=)
n.4067C>G
3g.46999990C>TCA433598168NBEAL2c.3891C>T (p.Ala1297=)
c.3789C>T (p.Ala1263=)
n.228C>T
c.1960-206C>T
c.363C>T (p.Ala121=)
c.3810C>T (p.Ala1270=)
c.3870C>T (p.Ala1290=)
c.3522C>T (p.Ala1174=)
c.3351C>T (p.Ala1117=)
c.3237C>T (p.Ala1079=)
c.2799C>T (p.Ala933=)
n.4067C>T
3g.46999991A>CCA352516300NBEAL2c.3892A>C (p.Thr1298Pro)
c.3790A>C (p.Thr1264Pro)
n.229A>C
c.1960-205A>C
c.364A>C (p.Thr122Pro)
c.3811A>C (p.Thr1271Pro)
c.3871A>C (p.Thr1291Pro)
c.3523A>C (p.Thr1175Pro)
c.3352A>C (p.Thr1118Pro)
c.3238A>C (p.Thr1080Pro)
c.2800A>C (p.Thr934Pro)
n.4068A>C
3g.46999991A>GCA352516301NBEAL2c.3892A>G (p.Thr1298Ala)
c.3790A>G (p.Thr1264Ala)
n.229A>G
c.1960-205A>G
c.364A>G (p.Thr122Ala)
c.3811A>G (p.Thr1271Ala)
c.3871A>G (p.Thr1291Ala)
c.3523A>G (p.Thr1175Ala)
c.3352A>G (p.Thr1118Ala)
c.3238A>G (p.Thr1080Ala)
c.2800A>G (p.Thr934Ala)
n.4068A>G
3g.46999991A>TCA352516302NBEAL2c.3892A>T (p.Thr1298Ser)
c.3790A>T (p.Thr1264Ser)
n.229A>T
c.1960-205A>T
c.364A>T (p.Thr122Ser)
c.3811A>T (p.Thr1271Ser)
c.3871A>T (p.Thr1291Ser)
c.3523A>T (p.Thr1175Ser)
c.3352A>T (p.Thr1118Ser)
c.3238A>T (p.Thr1080Ser)
c.2800A>T (p.Thr934Ser)
n.4068A>T
3g.46999992C>ACA352516303NBEAL2c.3893C>A (p.Thr1298Lys)
c.3791C>A (p.Thr1264Lys)
n.230C>A
c.1960-204C>A
c.365C>A (p.Thr122Lys)
c.3812C>A (p.Thr1271Lys)
c.3872C>A (p.Thr1291Lys)
c.3524C>A (p.Thr1175Lys)
c.3353C>A (p.Thr1118Lys)
c.3239C>A (p.Thr1080Lys)
c.2801C>A (p.Thr934Lys)
n.4069C>A
3g.46999992C>GCA352516304NBEAL2c.3893C>G (p.Thr1298Arg)
c.3791C>G (p.Thr1264Arg)
n.230C>G
c.1960-204C>G
c.365C>G (p.Thr122Arg)
c.3812C>G (p.Thr1271Arg)
c.3872C>G (p.Thr1291Arg)
c.3524C>G (p.Thr1175Arg)
c.3353C>G (p.Thr1118Arg)
c.3239C>G (p.Thr1080Arg)
c.2801C>G (p.Thr934Arg)
n.4069C>G
3g.46999992C>TCA352516305NBEAL2c.3893C>T (p.Thr1298Ile)
c.3791C>T (p.Thr1264Ile)
n.230C>T
c.1960-204C>T
c.365C>T (p.Thr122Ile)
c.3812C>T (p.Thr1271Ile)
c.3872C>T (p.Thr1291Ile)
c.3524C>T (p.Thr1175Ile)
c.3353C>T (p.Thr1118Ile)
c.3239C>T (p.Thr1080Ile)
c.2801C>T (p.Thr934Ile)
n.4069C>T
 gnomAD v4
3g.46999995_47000021dupCA1047549616NBEAL2c.3896_3922dup (p.Pro1307_Glu1308insAlaGlySerProProProSerSerPro)
c.3794_3820dup (p.Pro1273_Glu1274insAlaGlySerProProProSerSerPro)
n.233_259dup
c.1960-201_1960-175dup
c.368_394dup (p.Pro131_Glu132insAlaGlySerProProProSerSerPro)
c.3815_3841dup (p.Pro1280_Glu1281insAlaGlySerProProProSerSerPro)
c.3875_3901dup (p.Pro1300_Glu1301insAlaGlySerProProProSerSerPro)
c.3527_3553dup (p.Pro1184_Glu1185insAlaGlySerProProProSerSerPro)
c.3356_3382dup (p.Pro1127_Glu1128insAlaGlySerProProProSerSerPro)
c.3242_3268dup (p.Pro1089_Glu1090insAlaGlySerProProProSerSerPro)
c.2804_2830dup (p.Pro943_Glu944insAlaGlySerProProProSerSerPro)
n.4072_4098dup
 gnomAD v3 gnomAD v4
3g.46999993A>CCA433598171NBEAL2c.3894A>C (p.Thr1298=)
c.3792A>C (p.Thr1264=)
n.231A>C
c.1960-203A>C
c.366A>C (p.Thr122=)
c.3813A>C (p.Thr1271=)
c.3873A>C (p.Thr1291=)
c.3525A>C (p.Thr1175=)
c.3354A>C (p.Thr1118=)
c.3240A>C (p.Thr1080=)
c.2802A>C (p.Thr934=)
n.4070A>C
3g.46999993A>GCA433598172NBEAL2c.3894A>G (p.Thr1298=)
c.3792A>G (p.Thr1264=)
n.231A>G
c.1960-203A>G
c.366A>G (p.Thr122=)
c.3813A>G (p.Thr1271=)
c.3873A>G (p.Thr1291=)
c.3525A>G (p.Thr1175=)
c.3354A>G (p.Thr1118=)
c.3240A>G (p.Thr1080=)
c.2802A>G (p.Thr934=)
n.4070A>G
 gnomAD v4
3g.46999993A>TCA433598173NBEAL2c.3894A>T (p.Thr1298=)
c.3792A>T (p.Thr1264=)
n.231A>T
c.1960-203A>T
c.366A>T (p.Thr122=)
c.3813A>T (p.Thr1271=)
c.3873A>T (p.Thr1291=)
c.3525A>T (p.Thr1175=)
c.3354A>T (p.Thr1118=)
c.3240A>T (p.Thr1080=)
c.2802A>T (p.Thr934=)
n.4070A>T
3g.46999994G>ACA352516308NBEAL2c.3895G>A (p.Ala1299Thr)
c.3793G>A (p.Ala1265Thr)
n.232G>A
c.1960-202G>A
c.367G>A (p.Ala123Thr)
c.3814G>A (p.Ala1272Thr)
c.3874G>A (p.Ala1292Thr)
c.3526G>A (p.Ala1176Thr)
c.3355G>A (p.Ala1119Thr)
c.3241G>A (p.Ala1081Thr)
c.2803G>A (p.Ala935Thr)
n.4071G>A
3g.46999994G>CCA352516307NBEAL2c.3895G>C (p.Ala1299Pro)
c.3793G>C (p.Ala1265Pro)
n.232G>C
c.1960-202G>C
c.367G>C (p.Ala123Pro)
c.3814G>C (p.Ala1272Pro)
c.3874G>C (p.Ala1292Pro)
c.3526G>C (p.Ala1176Pro)
c.3355G>C (p.Ala1119Pro)
c.3241G>C (p.Ala1081Pro)
c.2803G>C (p.Ala935Pro)
n.4071G>C
3g.46999994G>TCA352516306NBEAL2c.3895G>T (p.Ala1299Ser)
c.3793G>T (p.Ala1265Ser)
n.232G>T
c.1960-202G>T
c.367G>T (p.Ala123Ser)
c.3814G>T (p.Ala1272Ser)
c.3874G>T (p.Ala1292Ser)
c.3526G>T (p.Ala1176Ser)
c.3355G>T (p.Ala1119Ser)
c.3241G>T (p.Ala1081Ser)
c.2803G>T (p.Ala935Ser)
n.4071G>T
3g.46999995C>ACA352516309NBEAL2c.3896C>A (p.Ala1299Asp)
c.3794C>A (p.Ala1265Asp)
n.233C>A
c.1960-201C>A
c.368C>A (p.Ala123Asp)
c.3815C>A (p.Ala1272Asp)
c.3875C>A (p.Ala1292Asp)
c.3527C>A (p.Ala1176Asp)
c.3356C>A (p.Ala1119Asp)
c.3242C>A (p.Ala1081Asp)
c.2804C>A (p.Ala935Asp)
n.4072C>A
3g.46999995C=CA1362362961NBEAL2c.3896C= (p.Ala1299=)
c.3794C= (p.Ala1265=)
n.233C=
c.1960-201C=
c.368C= (p.Ala123=)
c.3815C= (p.Ala1272=)
c.3875C= (p.Ala1292=)
c.3527C= (p.Ala1176=)
c.3356C= (p.Ala1119=)
c.3242C= (p.Ala1081=)
c.2804C= (p.Ala935=)
n.4072C=
3g.46999995C>GCA352516310NBEAL2c.3896C>G (p.Ala1299Gly)
c.3794C>G (p.Ala1265Gly)
n.233C>G
c.1960-201C>G
c.368C>G (p.Ala123Gly)
c.3815C>G (p.Ala1272Gly)
c.3875C>G (p.Ala1292Gly)
c.3527C>G (p.Ala1176Gly)
c.3356C>G (p.Ala1119Gly)
c.3242C>G (p.Ala1081Gly)
c.2804C>G (p.Ala935Gly)
n.4072C>G
3g.46999995C>TCA2361100NBEAL2c.3896C>T (p.Ala1299Val)
c.3794C>T (p.Ala1265Val)
n.233C>T
c.1960-201C>T
c.368C>T (p.Ala123Val)
c.3815C>T (p.Ala1272Val)
c.3875C>T (p.Ala1292Val)
c.3527C>T (p.Ala1176Val)
c.3356C>T (p.Ala1119Val)
c.3242C>T (p.Ala1081Val)
c.2804C>T (p.Ala935Val)
n.4072C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
3g.46999996C>ACA433598176NBEAL2c.3897C>A (p.Ala1299=)
c.3795C>A (p.Ala1265=)
n.234C>A
c.1960-200C>A
c.369C>A (p.Ala123=)
c.3816C>A (p.Ala1272=)
c.3876C>A (p.Ala1292=)
c.3528C>A (p.Ala1176=)
c.3357C>A (p.Ala1119=)
c.3243C>A (p.Ala1081=)
c.2805C>A (p.Ala935=)
n.4073C>A
3g.46999996C=CA1362362962NBEAL2c.3897C= (p.Ala1299=)
c.3795C= (p.Ala1265=)
n.234C=
c.1960-200C=
c.369C= (p.Ala123=)
c.3816C= (p.Ala1272=)
c.3876C= (p.Ala1292=)
c.3528C= (p.Ala1176=)
c.3357C= (p.Ala1119=)
c.3243C= (p.Ala1081=)
c.2805C= (p.Ala935=)
n.4073C=
3g.46999996C>GCA433598175NBEAL2c.3897C>G (p.Ala1299=)
c.3795C>G (p.Ala1265=)
n.234C>G
c.1960-200C>G
c.369C>G (p.Ala123=)
c.3816C>G (p.Ala1272=)
c.3876C>G (p.Ala1292=)
c.3528C>G (p.Ala1176=)
c.3357C>G (p.Ala1119=)
c.3243C>G (p.Ala1081=)
c.2805C>G (p.Ala935=)
n.4073C>G
3g.46999996C>TCA2361101NBEAL2c.3897C>T (p.Ala1299=)
c.3795C>T (p.Ala1265=)
n.234C>T
c.1960-200C>T
c.369C>T (p.Ala123=)
c.3816C>T (p.Ala1272=)
c.3876C>T (p.Ala1292=)
c.3528C>T (p.Ala1176=)
c.3357C>T (p.Ala1119=)
c.3243C>T (p.Ala1081=)
c.2805C>T (p.Ala935=)
n.4073C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.46999997G>ACA2361102NBEAL2c.3898G>A (p.Gly1300Ser)
c.3796G>A (p.Gly1266Ser)
n.235G>A
c.1960-199G>A
c.370G>A (p.Gly124Ser)
c.3817G>A (p.Gly1273Ser)
c.3877G>A (p.Gly1293Ser)
c.3529G>A (p.Gly1177Ser)
c.3358G>A (p.Gly1120Ser)
c.3244G>A (p.Gly1082Ser)
c.2806G>A (p.Gly936Ser)
n.4074G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.46999997G>CCA352516311NBEAL2c.3898G>C (p.Gly1300Arg)
c.3796G>C (p.Gly1266Arg)
n.235G>C
c.1960-199G>C
c.370G>C (p.Gly124Arg)
c.3817G>C (p.Gly1273Arg)
c.3877G>C (p.Gly1293Arg)
c.3529G>C (p.Gly1177Arg)
c.3358G>C (p.Gly1120Arg)
c.3244G>C (p.Gly1082Arg)
c.2806G>C (p.Gly936Arg)
n.4074G>C
3g.46999997G=CA1362362963NBEAL2c.3898G= (p.Gly1300=)
c.3796G= (p.Gly1266=)
n.235G=
c.1960-199G=
c.370G= (p.Gly124=)
c.3817G= (p.Gly1273=)
c.3877G= (p.Gly1293=)
c.3529G= (p.Gly1177=)
c.3358G= (p.Gly1120=)
c.3244G= (p.Gly1082=)
c.2806G= (p.Gly936=)
n.4074G=
3g.46999997G>TCA352516312NBEAL2c.3898G>T (p.Gly1300Cys)
c.3796G>T (p.Gly1266Cys)
n.235G>T
c.1960-199G>T
c.370G>T (p.Gly124Cys)
c.3817G>T (p.Gly1273Cys)
c.3877G>T (p.Gly1293Cys)
c.3529G>T (p.Gly1177Cys)
c.3358G>T (p.Gly1120Cys)
c.3244G>T (p.Gly1082Cys)
c.2806G>T (p.Gly936Cys)
n.4074G>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.46999998G>ACA352516313NBEAL2c.3899G>A (p.Gly1300Asp)
c.3797G>A (p.Gly1266Asp)
n.236G>A
c.1960-198G>A
c.371G>A (p.Gly124Asp)
c.3818G>A (p.Gly1273Asp)
c.3878G>A (p.Gly1293Asp)
c.3530G>A (p.Gly1177Asp)
c.3359G>A (p.Gly1120Asp)
c.3245G>A (p.Gly1082Asp)
c.2807G>A (p.Gly936Asp)
n.4075G>A
3g.46999998G>CCA352516314NBEAL2c.3899G>C (p.Gly1300Ala)
c.3797G>C (p.Gly1266Ala)
n.236G>C
c.1960-198G>C
c.371G>C (p.Gly124Ala)
c.3818G>C (p.Gly1273Ala)
c.3878G>C (p.Gly1293Ala)
c.3530G>C (p.Gly1177Ala)
c.3359G>C (p.Gly1120Ala)
c.3245G>C (p.Gly1082Ala)
c.2807G>C (p.Gly936Ala)
n.4075G>C
3g.46999998G=CA1362362964NBEAL2c.3899G= (p.Gly1300=)
c.3797G= (p.Gly1266=)
n.236G=
c.1960-198G=
c.371G= (p.Gly124=)
c.3818G= (p.Gly1273=)
c.3878G= (p.Gly1293=)
c.3530G= (p.Gly1177=)
c.3359G= (p.Gly1120=)
c.3245G= (p.Gly1082=)
c.2807G= (p.Gly936=)
n.4075G=
3g.46999998G>TCA352516315NBEAL2c.3899G>T (p.Gly1300Val)
c.3797G>T (p.Gly1266Val)
n.236G>T
c.1960-198G>T
c.371G>T (p.Gly124Val)
c.3818G>T (p.Gly1273Val)
c.3878G>T (p.Gly1293Val)
c.3530G>T (p.Gly1177Val)
c.3359G>T (p.Gly1120Val)
c.3245G>T (p.Gly1082Val)
c.2807G>T (p.Gly936Val)
n.4075G>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.46999999C>ACA433598177NBEAL2c.3900C>A (p.Gly1300=)
c.3798C>A (p.Gly1266=)
n.237C>A
c.1960-197C>A
c.372C>A (p.Gly124=)
c.3819C>A (p.Gly1273=)
c.3879C>A (p.Gly1293=)
c.3531C>A (p.Gly1177=)
c.3360C>A (p.Gly1120=)
c.3246C>A (p.Gly1082=)
c.2808C>A (p.Gly936=)
n.4076C>A
 dbSNP
3g.46999999C=CA1362362965NBEAL2c.3900C= (p.Gly1300=)
c.3798C= (p.Gly1266=)
n.237C=
c.1960-197C=
c.372C= (p.Gly124=)
c.3819C= (p.Gly1273=)
c.3879C= (p.Gly1293=)
c.3531C= (p.Gly1177=)
c.3360C= (p.Gly1120=)
c.3246C= (p.Gly1082=)
c.2808C= (p.Gly936=)
n.4076C=
3g.46999999C>GCA433598178NBEAL2c.3900C>G (p.Gly1300=)
c.3798C>G (p.Gly1266=)
n.237C>G
c.1960-197C>G
c.372C>G (p.Gly124=)
c.3819C>G (p.Gly1273=)
c.3879C>G (p.Gly1293=)
c.3531C>G (p.Gly1177=)
c.3360C>G (p.Gly1120=)
c.3246C>G (p.Gly1082=)
c.2808C>G (p.Gly936=)
n.4076C>G
3g.46999999C>TCA433598179NBEAL2c.3900C>T (p.Gly1300=)
c.3798C>T (p.Gly1266=)
n.237C>T
c.1960-197C>T
c.372C>T (p.Gly124=)
c.3819C>T (p.Gly1273=)
c.3879C>T (p.Gly1293=)
c.3531C>T (p.Gly1177=)
c.3360C>T (p.Gly1120=)
c.3246C>T (p.Gly1082=)
c.2808C>T (p.Gly936=)
n.4076C>T
3g.47000000A>CCA352516316NBEAL2c.3901A>C (p.Ser1301Arg)
c.3799A>C (p.Ser1267Arg)
n.238A>C
c.1960-196A>C
c.373A>C (p.Ser125Arg)
c.3820A>C (p.Ser1274Arg)
c.3880A>C (p.Ser1294Arg)
c.3532A>C (p.Ser1178Arg)
c.3361A>C (p.Ser1121Arg)
c.3247A>C (p.Ser1083Arg)
c.2809A>C (p.Ser937Arg)
n.4077A>C
 dbSNP
3g.47000000A>GCA352516317NBEAL2c.3901A>G (p.Ser1301Gly)
c.3799A>G (p.Ser1267Gly)
n.238A>G
c.1960-196A>G
c.373A>G (p.Ser125Gly)
c.3820A>G (p.Ser1274Gly)
c.3880A>G (p.Ser1294Gly)
c.3532A>G (p.Ser1178Gly)
c.3361A>G (p.Ser1121Gly)
c.3247A>G (p.Ser1083Gly)
c.2809A>G (p.Ser937Gly)
n.4077A>G
3g.47000000A>TCA352516318NBEAL2c.3901A>T (p.Ser1301Cys)
c.3799A>T (p.Ser1267Cys)
n.238A>T
c.1960-196A>T
c.373A>T (p.Ser125Cys)
c.3820A>T (p.Ser1274Cys)
c.3880A>T (p.Ser1294Cys)
c.3532A>T (p.Ser1178Cys)
c.3361A>T (p.Ser1121Cys)
c.3247A>T (p.Ser1083Cys)
c.2809A>T (p.Ser937Cys)
n.4077A>T
3g.47000001G>ACA2361103NBEAL2c.3902G>A (p.Ser1301Asn)
c.3800G>A (p.Ser1267Asn)
n.239G>A
c.1960-195G>A
c.374G>A (p.Ser125Asn)
c.3821G>A (p.Ser1274Asn)
c.3881G>A (p.Ser1294Asn)
c.3533G>A (p.Ser1178Asn)
c.3362G>A (p.Ser1121Asn)
c.3248G>A (p.Ser1083Asn)
c.2810G>A (p.Ser937Asn)
n.4078G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.47000001G>CCA352516319NBEAL2c.3902G>C (p.Ser1301Thr)
c.3800G>C (p.Ser1267Thr)
n.239G>C
c.1960-195G>C
c.374G>C (p.Ser125Thr)
c.3821G>C (p.Ser1274Thr)
c.3881G>C (p.Ser1294Thr)
c.3533G>C (p.Ser1178Thr)
c.3362G>C (p.Ser1121Thr)
c.3248G>C (p.Ser1083Thr)
c.2810G>C (p.Ser937Thr)
n.4078G>C
3g.47000001G=CA1362362966NBEAL2c.3902G= (p.Ser1301=)
c.3800G= (p.Ser1267=)
n.239G=
c.1960-195G=
c.374G= (p.Ser125=)
c.3821G= (p.Ser1274=)
c.3881G= (p.Ser1294=)
c.3533G= (p.Ser1178=)
c.3362G= (p.Ser1121=)
c.3248G= (p.Ser1083=)
c.2810G= (p.Ser937=)
n.4078G=
3g.47000001G>TCA352516320NBEAL2c.3902G>T (p.Ser1301Ile)
c.3800G>T (p.Ser1267Ile)
n.239G>T
c.1960-195G>T
c.374G>T (p.Ser125Ile)
c.3821G>T (p.Ser1274Ile)
c.3881G>T (p.Ser1294Ile)
c.3533G>T (p.Ser1178Ile)
c.3362G>T (p.Ser1121Ile)
c.3248G>T (p.Ser1083Ile)
c.2810G>T (p.Ser937Ile)
n.4078G>T
3g.47000002C>ACA352516321NBEAL2c.3903C>A (p.Ser1301Arg)
c.3801C>A (p.Ser1267Arg)
n.240C>A
c.1960-194C>A
c.375C>A (p.Ser125Arg)
c.3822C>A (p.Ser1274Arg)
c.3882C>A (p.Ser1294Arg)
c.3534C>A (p.Ser1178Arg)
c.3363C>A (p.Ser1121Arg)
c.3249C>A (p.Ser1083Arg)
c.2811C>A (p.Ser937Arg)
n.4079C>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.47000002C=CA1362362967NBEAL2c.3903C= (p.Ser1301=)
c.3801C= (p.Ser1267=)
n.240C=
c.1960-194C=
c.375C= (p.Ser125=)
c.3822C= (p.Ser1274=)
c.3882C= (p.Ser1294=)
c.3534C= (p.Ser1178=)
c.3363C= (p.Ser1121=)
c.3249C= (p.Ser1083=)
c.2811C= (p.Ser937=)
n.4079C=
3g.47000002C>GCA352516322NBEAL2c.3903C>G (p.Ser1301Arg)
c.3801C>G (p.Ser1267Arg)
n.240C>G
c.1960-194C>G
c.375C>G (p.Ser125Arg)
c.3822C>G (p.Ser1274Arg)
c.3882C>G (p.Ser1294Arg)
c.3534C>G (p.Ser1178Arg)
c.3363C>G (p.Ser1121Arg)
c.3249C>G (p.Ser1083Arg)
c.2811C>G (p.Ser937Arg)
n.4079C>G
3g.47000002C>TCA433598180NBEAL2c.3903C>T (p.Ser1301=)
c.3801C>T (p.Ser1267=)
n.240C>T
c.1960-194C>T
c.375C>T (p.Ser125=)
c.3822C>T (p.Ser1274=)
c.3882C>T (p.Ser1294=)
c.3534C>T (p.Ser1178=)
c.3363C>T (p.Ser1121=)
c.3249C>T (p.Ser1083=)
c.2811C>T (p.Ser937=)
n.4079C>T
 dbSNP gnomAD v2 gnomAD v4
3g.47000007dupCA543042187NBEAL2c.3908dup (p.Pro1304SerfsTer20)
c.3806dup (p.Pro1270SerfsTer20)
n.245dup
c.1960-189dup
c.380dup (p.Pro128SerfsTer20)
c.3827dup (p.Pro1277SerfsTer20)
c.3887dup (p.Pro1297SerfsTer20)
c.3539dup (p.Pro1181SerfsTer20)
c.3368dup (p.Pro1124SerfsTer20)
c.3254dup (p.Pro1086SerfsTer20)
c.2816dup (p.Pro940SerfsTer20)
n.4084dup
 dbSNP gnomAD v2 gnomAD v4 COSMIC
3g.47000007delCA645526743NBEAL2c.3908del (p.Pro1303LeufsTer?)
c.3806del (p.Pro1269LeufsTer?)
n.245del
c.1960-189del
c.380del (p.Pro127LeufsTer?)
c.3827del (p.Pro1276LeufsTer?)
c.3887del (p.Pro1296LeufsTer?)
c.3539del (p.Pro1180LeufsTer?)
c.3368del (p.Pro1123LeufsTer?)
c.3254del (p.Pro1085LeufsTer?)
c.2816del (p.Pro939LeufsTer?)
n.4084del
 COSMIC
3g.47000003C>ACA352516325NBEAL2c.3904C>A (p.Pro1302Thr)
c.3802C>A (p.Pro1268Thr)
n.241C>A
c.1960-193C>A
c.376C>A (p.Pro126Thr)
c.3823C>A (p.Pro1275Thr)
c.3883C>A (p.Pro1295Thr)
c.3535C>A (p.Pro1179Thr)
c.3364C>A (p.Pro1122Thr)
c.3250C>A (p.Pro1084Thr)
c.2812C>A (p.Pro938Thr)
n.4080C>A
3g.47000003C>GCA352516324NBEAL2c.3904C>G (p.Pro1302Ala)
c.3802C>G (p.Pro1268Ala)
n.241C>G
c.1960-193C>G
c.376C>G (p.Pro126Ala)
c.3823C>G (p.Pro1275Ala)
c.3883C>G (p.Pro1295Ala)
c.3535C>G (p.Pro1179Ala)
c.3364C>G (p.Pro1122Ala)
c.3250C>G (p.Pro1084Ala)
c.2812C>G (p.Pro938Ala)
n.4080C>G
3g.47000003C>TCA352516323NBEAL2c.3904C>T (p.Pro1302Ser)
c.3802C>T (p.Pro1268Ser)
n.241C>T
c.1960-193C>T
c.376C>T (p.Pro126Ser)
c.3823C>T (p.Pro1275Ser)
c.3883C>T (p.Pro1295Ser)
c.3535C>T (p.Pro1179Ser)
c.3364C>T (p.Pro1122Ser)
c.3250C>T (p.Pro1084Ser)
c.2812C>T (p.Pro938Ser)
n.4080C>T
3g.47000004C>ACA352516326NBEAL2c.3905C>A (p.Pro1302His)
c.3803C>A (p.Pro1268His)
n.242C>A
c.1960-192C>A
c.377C>A (p.Pro126His)
c.3824C>A (p.Pro1275His)
c.3884C>A (p.Pro1295His)
c.3536C>A (p.Pro1179His)
c.3365C>A (p.Pro1122His)
c.3251C>A (p.Pro1084His)
c.2813C>A (p.Pro938His)
n.4081C>A
 gnomAD v4
3g.47000004C>GCA352516327NBEAL2c.3905C>G (p.Pro1302Arg)
c.3803C>G (p.Pro1268Arg)
n.242C>G
c.1960-192C>G
c.377C>G (p.Pro126Arg)
c.3824C>G (p.Pro1275Arg)
c.3884C>G (p.Pro1295Arg)
c.3536C>G (p.Pro1179Arg)
c.3365C>G (p.Pro1122Arg)
c.3251C>G (p.Pro1084Arg)
c.2813C>G (p.Pro938Arg)
n.4081C>G
3g.47000004C>TCA352516328NBEAL2c.3905C>T (p.Pro1302Leu)
c.3803C>T (p.Pro1268Leu)
n.242C>T
c.1960-192C>T
c.377C>T (p.Pro126Leu)
c.3824C>T (p.Pro1275Leu)
c.3884C>T (p.Pro1295Leu)
c.3536C>T (p.Pro1179Leu)
c.3365C>T (p.Pro1122Leu)
c.3251C>T (p.Pro1084Leu)
c.2813C>T (p.Pro938Leu)
n.4081C>T
 gnomAD v4 COSMIC
3g.47000005C>ACA433598181NBEAL2c.3906C>A (p.Pro1302=)
c.3804C>A (p.Pro1268=)
n.243C>A
c.1960-191C>A
c.378C>A (p.Pro126=)
c.3825C>A (p.Pro1275=)
c.3885C>A (p.Pro1295=)
c.3537C>A (p.Pro1179=)
c.3366C>A (p.Pro1122=)
c.3252C>A (p.Pro1084=)
c.2814C>A (p.Pro938=)
n.4082C>A
3g.47000005C=CA1362362968NBEAL2c.3906C= (p.Pro1302=)
c.3804C= (p.Pro1268=)
n.243C=
c.1960-191C=
c.378C= (p.Pro126=)
c.3825C= (p.Pro1275=)
c.3885C= (p.Pro1295=)
c.3537C= (p.Pro1179=)
c.3366C= (p.Pro1122=)
c.3252C= (p.Pro1084=)
c.2814C= (p.Pro938=)
n.4082C=
3g.47000005C>GCA2361104NBEAL2c.3906C>G (p.Pro1302=)
c.3804C>G (p.Pro1268=)
n.243C>G
c.1960-191C>G
c.378C>G (p.Pro126=)
c.3825C>G (p.Pro1275=)
c.3885C>G (p.Pro1295=)
c.3537C>G (p.Pro1179=)
c.3366C>G (p.Pro1122=)
c.3252C>G (p.Pro1084=)
c.2814C>G (p.Pro938=)
n.4082C>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.47000005C>TCA433598182NBEAL2c.3906C>T (p.Pro1302=)
c.3804C>T (p.Pro1268=)
n.243C>T
c.1960-191C>T
c.378C>T (p.Pro126=)
c.3825C>T (p.Pro1275=)
c.3885C>T (p.Pro1295=)
c.3537C>T (p.Pro1179=)
c.3366C>T (p.Pro1122=)
c.3252C>T (p.Pro1084=)
c.2814C>T (p.Pro938=)
n.4082C>T
 dbSNP gnomAD v3 gnomAD v4
3g.47000006C>ACA2361105NBEAL2c.3907C>A (p.Pro1303Thr)
c.3805C>A (p.Pro1269Thr)
n.244C>A
c.1960-190C>A
c.379C>A (p.Pro127Thr)
c.3826C>A (p.Pro1276Thr)
c.3886C>A (p.Pro1296Thr)
c.3538C>A (p.Pro1180Thr)
c.3367C>A (p.Pro1123Thr)
c.3253C>A (p.Pro1085Thr)
c.2815C>A (p.Pro939Thr)
n.4083C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.47000006C=CA1362362969NBEAL2c.3907C= (p.Pro1303=)
c.3805C= (p.Pro1269=)
n.244C=
c.1960-190C=
c.379C= (p.Pro127=)
c.3826C= (p.Pro1276=)
c.3886C= (p.Pro1296=)
c.3538C= (p.Pro1180=)
c.3367C= (p.Pro1123=)
c.3253C= (p.Pro1085=)
c.2815C= (p.Pro939=)
n.4083C=
3g.47000006C>GCA2361106NBEAL2c.3907C>G (p.Pro1303Ala)
c.3805C>G (p.Pro1269Ala)
n.244C>G
c.1960-190C>G
c.379C>G (p.Pro127Ala)
c.3826C>G (p.Pro1276Ala)
c.3886C>G (p.Pro1296Ala)
c.3538C>G (p.Pro1180Ala)
c.3367C>G (p.Pro1123Ala)
c.3253C>G (p.Pro1085Ala)
c.2815C>G (p.Pro939Ala)
n.4083C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.47000006C>TCA352516329NBEAL2c.3907C>T (p.Pro1303Ser)
c.3805C>T (p.Pro1269Ser)
n.244C>T
c.1960-190C>T
c.379C>T (p.Pro127Ser)
c.3826C>T (p.Pro1276Ser)
c.3886C>T (p.Pro1296Ser)
c.3538C>T (p.Pro1180Ser)
c.3367C>T (p.Pro1123Ser)
c.3253C>T (p.Pro1085Ser)
c.2815C>T (p.Pro939Ser)
n.4083C>T
 dbSNP gnomAD v2 gnomAD v4
3g.47000007C>ACA352516330NBEAL2c.3908C>A (p.Pro1303His)
c.3806C>A (p.Pro1269His)
n.245C>A
c.1960-189C>A
c.380C>A (p.Pro127His)
c.3827C>A (p.Pro1276His)
c.3887C>A (p.Pro1296His)
c.3539C>A (p.Pro1180His)
c.3368C>A (p.Pro1123His)
c.3254C>A (p.Pro1085His)
c.2816C>A (p.Pro939His)
n.4084C>A
3g.47000007C=CA1362362970NBEAL2c.3908C= (p.Pro1303=)
c.3806C= (p.Pro1269=)
n.245C=
c.1960-189C=
c.380C= (p.Pro127=)
c.3827C= (p.Pro1276=)
c.3887C= (p.Pro1296=)
c.3539C= (p.Pro1180=)
c.3368C= (p.Pro1123=)
c.3254C= (p.Pro1085=)
c.2816C= (p.Pro939=)
n.4084C=
3g.47000007C>GCA352516331NBEAL2c.3908C>G (p.Pro1303Arg)
c.3806C>G (p.Pro1269Arg)
n.245C>G
c.1960-189C>G
c.380C>G (p.Pro127Arg)
c.3827C>G (p.Pro1276Arg)
c.3887C>G (p.Pro1296Arg)
c.3539C>G (p.Pro1180Arg)
c.3368C>G (p.Pro1123Arg)
c.3254C>G (p.Pro1085Arg)
c.2816C>G (p.Pro939Arg)
n.4084C>G
3g.47000007C>TCA2361107NBEAL2c.3908C>T (p.Pro1303Leu)
c.3806C>T (p.Pro1269Leu)
n.245C>T
c.1960-189C>T
c.380C>T (p.Pro127Leu)
c.3827C>T (p.Pro1276Leu)
c.3887C>T (p.Pro1296Leu)
c.3539C>T (p.Pro1180Leu)
c.3368C>T (p.Pro1123Leu)
c.3254C>T (p.Pro1085Leu)
c.2816C>T (p.Pro939Leu)
n.4084C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.47000008T>ACA433598183NBEAL2c.3909T>A (p.Pro1303=)
c.3807T>A (p.Pro1269=)
n.246T>A
c.1960-188T>A
c.381T>A (p.Pro127=)
c.3828T>A (p.Pro1276=)
c.3888T>A (p.Pro1296=)
c.3540T>A (p.Pro1180=)
c.3369T>A (p.Pro1123=)
c.3255T>A (p.Pro1085=)
c.2817T>A (p.Pro939=)
n.4085T>A
 gnomAD v4
3g.47000008T>CCA433598184NBEAL2c.3909T>C (p.Pro1303=)
c.3807T>C (p.Pro1269=)
n.246T>C
c.1960-188T>C
c.381T>C (p.Pro127=)
c.3828T>C (p.Pro1276=)
c.3888T>C (p.Pro1296=)
c.3540T>C (p.Pro1180=)
c.3369T>C (p.Pro1123=)
c.3255T>C (p.Pro1085=)
c.2817T>C (p.Pro939=)
n.4085T>C
3g.47000008T>GCA433598185NBEAL2c.3909T>G (p.Pro1303=)
c.3807T>G (p.Pro1269=)
n.246T>G
c.1960-188T>G
c.381T>G (p.Pro127=)
c.3828T>G (p.Pro1276=)
c.3888T>G (p.Pro1296=)
c.3540T>G (p.Pro1180=)
c.3369T>G (p.Pro1123=)
c.3255T>G (p.Pro1085=)
c.2817T>G (p.Pro939=)
n.4085T>G
 dbSNP
3g.47000008dupCA2586972409NBEAL2c.3909dup (p.Pro1304SerfsTer20)
c.3807dup (p.Pro1270SerfsTer20)
n.246dup
c.1960-188dup
c.381dup (p.Pro128SerfsTer20)
c.3828dup (p.Pro1277SerfsTer20)
c.3888dup (p.Pro1297SerfsTer20)
c.3540dup (p.Pro1181SerfsTer20)
c.3369dup (p.Pro1124SerfsTer20)
c.3255dup (p.Pro1086SerfsTer20)
c.2817dup (p.Pro940SerfsTer20)
n.4085dup
3g.47000009C>ACA352516332NBEAL2c.3910C>A (p.Pro1304Thr)
c.3808C>A (p.Pro1270Thr)
n.247C>A
c.1960-187C>A
c.382C>A (p.Pro128Thr)
c.3829C>A (p.Pro1277Thr)
c.3889C>A (p.Pro1297Thr)
c.3541C>A (p.Pro1181Thr)
c.3370C>A (p.Pro1124Thr)
c.3256C>A (p.Pro1086Thr)
c.2818C>A (p.Pro940Thr)
n.4086C>A
3g.47000009C=CA1362362971NBEAL2c.3910C= (p.Pro1304=)
c.3808C= (p.Pro1270=)
n.247C=
c.1960-187C=
c.382C= (p.Pro128=)
c.3829C= (p.Pro1277=)
c.3889C= (p.Pro1297=)
c.3541C= (p.Pro1181=)
c.3370C= (p.Pro1124=)
c.3256C= (p.Pro1086=)
c.2818C= (p.Pro940=)
n.4086C=
3g.47000009C>GCA352516333NBEAL2c.3910C>G (p.Pro1304Ala)
c.3808C>G (p.Pro1270Ala)
n.247C>G
c.1960-187C>G
c.382C>G (p.Pro128Ala)
c.3829C>G (p.Pro1277Ala)
c.3889C>G (p.Pro1297Ala)
c.3541C>G (p.Pro1181Ala)
c.3370C>G (p.Pro1124Ala)
c.3256C>G (p.Pro1086Ala)
c.2818C>G (p.Pro940Ala)
n.4086C>G
3g.47000009C>TCA352516334NBEAL2c.3910C>T (p.Pro1304Ser)
c.3808C>T (p.Pro1270Ser)
n.247C>T
c.1960-187C>T
c.382C>T (p.Pro128Ser)
c.3829C>T (p.Pro1277Ser)
c.3889C>T (p.Pro1297Ser)
c.3541C>T (p.Pro1181Ser)
c.3370C>T (p.Pro1124Ser)
c.3256C>T (p.Pro1086Ser)
c.2818C>T (p.Pro940Ser)
n.4086C>T
 dbSNP gnomAD v2
3g.47000010C>ACA352516336NBEAL2c.3911C>A (p.Pro1304Gln)
c.3809C>A (p.Pro1270Gln)
n.248C>A
c.1960-186C>A
c.383C>A (p.Pro128Gln)
c.3830C>A (p.Pro1277Gln)
c.3890C>A (p.Pro1297Gln)
c.3542C>A (p.Pro1181Gln)
c.3371C>A (p.Pro1124Gln)
c.3257C>A (p.Pro1086Gln)
c.2819C>A (p.Pro940Gln)
n.4087C>A
3g.47000010C=CA1362362972NBEAL2c.3911C= (p.Pro1304=)
c.3809C= (p.Pro1270=)
n.248C=
c.1960-186C=
c.383C= (p.Pro128=)
c.3830C= (p.Pro1277=)
c.3890C= (p.Pro1297=)
c.3542C= (p.Pro1181=)
c.3371C= (p.Pro1124=)
c.3257C= (p.Pro1086=)
c.2819C= (p.Pro940=)
n.4087C=
3g.47000010C>GCA352516335NBEAL2c.3911C>G (p.Pro1304Arg)
c.3809C>G (p.Pro1270Arg)
n.248C>G
c.1960-186C>G
c.383C>G (p.Pro128Arg)
c.3830C>G (p.Pro1277Arg)
c.3890C>G (p.Pro1297Arg)
c.3542C>G (p.Pro1181Arg)
c.3371C>G (p.Pro1124Arg)
c.3257C>G (p.Pro1086Arg)
c.2819C>G (p.Pro940Arg)
n.4087C>G
3g.47000010C>TCA2361108NBEAL2c.3911C>T (p.Pro1304Leu)
c.3809C>T (p.Pro1270Leu)
n.248C>T
c.1960-186C>T
c.383C>T (p.Pro128Leu)
c.3830C>T (p.Pro1277Leu)
c.3890C>T (p.Pro1297Leu)
c.3542C>T (p.Pro1181Leu)
c.3371C>T (p.Pro1124Leu)
c.3257C>T (p.Pro1086Leu)
c.2819C>T (p.Pro940Leu)
n.4087C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.47000011G>ACA433598186NBEAL2c.3912G>A (p.Pro1304=)
c.3810G>A (p.Pro1270=)
n.249G>A
c.1960-185G>A
c.384G>A (p.Pro128=)
c.3831G>A (p.Pro1277=)
c.3891G>A (p.Pro1297=)
c.3543G>A (p.Pro1181=)
c.3372G>A (p.Pro1124=)
c.3258G>A (p.Pro1086=)
c.2820G>A (p.Pro940=)
n.4088G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.47000011G>CCA433598187NBEAL2c.3912G>C (p.Pro1304=)
c.3810G>C (p.Pro1270=)
n.249G>C
c.1960-185G>C
c.384G>C (p.Pro128=)
c.3831G>C (p.Pro1277=)
c.3891G>C (p.Pro1297=)
c.3543G>C (p.Pro1181=)
c.3372G>C (p.Pro1124=)
c.3258G>C (p.Pro1086=)
c.2820G>C (p.Pro940=)
n.4088G>C
3g.47000011G=CA1362362973NBEAL2c.3912G= (p.Pro1304=)
c.3810G= (p.Pro1270=)
n.249G=
c.1960-185G=
c.384G= (p.Pro128=)
c.3831G= (p.Pro1277=)
c.3891G= (p.Pro1297=)
c.3543G= (p.Pro1181=)
c.3372G= (p.Pro1124=)
c.3258G= (p.Pro1086=)
c.2820G= (p.Pro940=)
n.4088G=
3g.47000011G>TCA433598188NBEAL2c.3912G>T (p.Pro1304=)
c.3810G>T (p.Pro1270=)
n.249G>T
c.1960-185G>T
c.384G>T (p.Pro128=)
c.3831G>T (p.Pro1277=)
c.3891G>T (p.Pro1297=)
c.3543G>T (p.Pro1181=)
c.3372G>T (p.Pro1124=)
c.3258G>T (p.Pro1086=)
c.2820G>T (p.Pro940=)
n.4088G>T
 gnomAD v4
3g.47000012T>ACA352516337NBEAL2c.3913T>A (p.Ser1305Thr)
c.3811T>A (p.Ser1271Thr)
n.250T>A
c.1960-184T>A
c.385T>A (p.Ser129Thr)
c.3832T>A (p.Ser1278Thr)
c.3892T>A (p.Ser1298Thr)
c.3544T>A (p.Ser1182Thr)
c.3373T>A (p.Ser1125Thr)
c.3259T>A (p.Ser1087Thr)
c.2821T>A (p.Ser941Thr)
n.4089T>A
3g.47000012T>CCA352516338NBEAL2c.3913T>C (p.Ser1305Pro)
c.3811T>C (p.Ser1271Pro)
n.250T>C
c.1960-184T>C
c.385T>C (p.Ser129Pro)
c.3832T>C (p.Ser1278Pro)
c.3892T>C (p.Ser1298Pro)
c.3544T>C (p.Ser1182Pro)
c.3373T>C (p.Ser1125Pro)
c.3259T>C (p.Ser1087Pro)
c.2821T>C (p.Ser941Pro)
n.4089T>C
3g.47000012T>GCA352516339NBEAL2c.3913T>G (p.Ser1305Ala)
c.3811T>G (p.Ser1271Ala)
n.250T>G
c.1960-184T>G
c.385T>G (p.Ser129Ala)
c.3832T>G (p.Ser1278Ala)
c.3892T>G (p.Ser1298Ala)
c.3544T>G (p.Ser1182Ala)
c.3373T>G (p.Ser1125Ala)
c.3259T>G (p.Ser1087Ala)
c.2821T>G (p.Ser941Ala)
n.4089T>G
 dbSNP
3g.47000013C>ACA352516340NBEAL2c.3914C>A (p.Ser1305Tyr)
c.3812C>A (p.Ser1271Tyr)
n.251C>A
c.1960-183C>A
c.386C>A (p.Ser129Tyr)
c.3833C>A (p.Ser1278Tyr)
c.3893C>A (p.Ser1298Tyr)
c.3545C>A (p.Ser1182Tyr)
c.3374C>A (p.Ser1125Tyr)
c.3260C>A (p.Ser1087Tyr)
c.2822C>A (p.Ser941Tyr)
n.4090C>A
3g.47000013C>GCA352516341NBEAL2c.3914C>G (p.Ser1305Cys)
c.3812C>G (p.Ser1271Cys)
n.251C>G
c.1960-183C>G
c.386C>G (p.Ser129Cys)
c.3833C>G (p.Ser1278Cys)
c.3893C>G (p.Ser1298Cys)
c.3545C>G (p.Ser1182Cys)
c.3374C>G (p.Ser1125Cys)
c.3260C>G (p.Ser1087Cys)
c.2822C>G (p.Ser941Cys)
n.4090C>G
3g.47000013C>TCA352516342NBEAL2c.3914C>T (p.Ser1305Phe)
c.3812C>T (p.Ser1271Phe)
n.251C>T
c.1960-183C>T
c.386C>T (p.Ser129Phe)
c.3833C>T (p.Ser1278Phe)
c.3893C>T (p.Ser1298Phe)
c.3545C>T (p.Ser1182Phe)
c.3374C>T (p.Ser1125Phe)
c.3260C>T (p.Ser1087Phe)
c.2822C>T (p.Ser941Phe)
n.4090C>T
3g.47000014T>ACA433598189NBEAL2c.3915T>A (p.Ser1305=)
c.3813T>A (p.Ser1271=)
n.252T>A
c.1960-182T>A
c.387T>A (p.Ser129=)
c.3834T>A (p.Ser1278=)
c.3894T>A (p.Ser1298=)
c.3546T>A (p.Ser1182=)
c.3375T>A (p.Ser1125=)
c.3261T>A (p.Ser1087=)
c.2823T>A (p.Ser941=)
n.4091T>A
3g.47000014T>CCA433598190NBEAL2c.3915T>C (p.Ser1305=)
c.3813T>C (p.Ser1271=)
n.252T>C
c.1960-182T>C
c.387T>C (p.Ser129=)
c.3834T>C (p.Ser1278=)
c.3894T>C (p.Ser1298=)
c.3546T>C (p.Ser1182=)
c.3375T>C (p.Ser1125=)
c.3261T>C (p.Ser1087=)
c.2823T>C (p.Ser941=)
n.4091T>C
3g.47000014T>GCA433598191NBEAL2c.3915T>G (p.Ser1305=)
c.3813T>G (p.Ser1271=)
n.252T>G
c.1960-182T>G
c.387T>G (p.Ser129=)
c.3834T>G (p.Ser1278=)
c.3894T>G (p.Ser1298=)
c.3546T>G (p.Ser1182=)
c.3375T>G (p.Ser1125=)
c.3261T>G (p.Ser1087=)
c.2823T>G (p.Ser941=)
n.4091T>G
3g.47000015T>ACA352516343NBEAL2c.3916T>A (p.Ser1306Thr)
c.3814T>A (p.Ser1272Thr)
n.253T>A
c.1960-181T>A
c.388T>A (p.Ser130Thr)
c.3835T>A (p.Ser1279Thr)
c.3895T>A (p.Ser1299Thr)
c.3547T>A (p.Ser1183Thr)
c.3376T>A (p.Ser1126Thr)
c.3262T>A (p.Ser1088Thr)
c.2824T>A (p.Ser942Thr)
n.4092T>A
3g.47000015T>CCA352516344NBEAL2c.3916T>C (p.Ser1306Pro)
c.3814T>C (p.Ser1272Pro)
n.253T>C
c.1960-181T>C
c.388T>C (p.Ser130Pro)
c.3835T>C (p.Ser1279Pro)
c.3895T>C (p.Ser1299Pro)
c.3547T>C (p.Ser1183Pro)
c.3376T>C (p.Ser1126Pro)
c.3262T>C (p.Ser1088Pro)
c.2824T>C (p.Ser942Pro)
n.4092T>C
3g.47000015T>GCA352516345NBEAL2c.3916T>G (p.Ser1306Ala)
c.3814T>G (p.Ser1272Ala)
n.253T>G
c.1960-181T>G
c.388T>G (p.Ser130Ala)
c.3835T>G (p.Ser1279Ala)
c.3895T>G (p.Ser1299Ala)
c.3547T>G (p.Ser1183Ala)
c.3376T>G (p.Ser1126Ala)
c.3262T>G (p.Ser1088Ala)
c.2824T>G (p.Ser942Ala)
n.4092T>G
3g.47000016C>ACA352516346NBEAL2c.3917C>A (p.Ser1306Tyr)
c.3815C>A (p.Ser1272Tyr)
n.254C>A
c.1960-180C>A
c.389C>A (p.Ser130Tyr)
c.3836C>A (p.Ser1279Tyr)
c.3896C>A (p.Ser1299Tyr)
c.3548C>A (p.Ser1183Tyr)
c.3377C>A (p.Ser1126Tyr)
c.3263C>A (p.Ser1088Tyr)
c.2825C>A (p.Ser942Tyr)
n.4093C>A
3g.47000016C>GCA352516347NBEAL2c.3917C>G (p.Ser1306Cys)
c.3815C>G (p.Ser1272Cys)
n.254C>G
c.1960-180C>G
c.389C>G (p.Ser130Cys)
c.3836C>G (p.Ser1279Cys)
c.3896C>G (p.Ser1299Cys)
c.3548C>G (p.Ser1183Cys)
c.3377C>G (p.Ser1126Cys)
c.3263C>G (p.Ser1088Cys)
c.2825C>G (p.Ser942Cys)
n.4093C>G
3g.47000016C>TCA352516348NBEAL2c.3917C>T (p.Ser1306Phe)
c.3815C>T (p.Ser1272Phe)
n.254C>T
c.1960-180C>T
c.389C>T (p.Ser130Phe)
c.3836C>T (p.Ser1279Phe)
c.3896C>T (p.Ser1299Phe)
c.3548C>T (p.Ser1183Phe)
c.3377C>T (p.Ser1126Phe)
c.3263C>T (p.Ser1088Phe)
c.2825C>T (p.Ser942Phe)
n.4093C>T
3g.47000019delCA2665493218NBEAL2c.3920del (p.Pro1307GlnfsTer?)
c.3818del (p.Pro1273GlnfsTer?)
n.257del
c.1960-177del
c.392del (p.Pro131GlnfsTer?)
c.3839del (p.Pro1280GlnfsTer?)
c.3899del (p.Pro1300GlnfsTer?)
c.3551del (p.Pro1184GlnfsTer?)
c.3380del (p.Pro1127GlnfsTer?)
c.3266del (p.Pro1089GlnfsTer?)
c.2828del (p.Pro943GlnfsTer?)
n.4096del
 ClinVar gnomAD v4
3g.47000017C>ACA433598192NBEAL2c.3918C>A (p.Ser1306=)
c.3816C>A (p.Ser1272=)
n.255C>A
c.1960-179C>A
c.390C>A (p.Ser130=)
c.3837C>A (p.Ser1279=)
c.3897C>A (p.Ser1299=)
c.3549C>A (p.Ser1183=)
c.3378C>A (p.Ser1126=)
c.3264C>A (p.Ser1088=)
c.2826C>A (p.Ser942=)
n.4094C>A
3g.47000017C=CA1362362974NBEAL2c.3918C= (p.Ser1306=)
c.3816C= (p.Ser1272=)
n.255C=
c.1960-179C=
c.390C= (p.Ser130=)
c.3837C= (p.Ser1279=)
c.3897C= (p.Ser1299=)
c.3549C= (p.Ser1183=)
c.3378C= (p.Ser1126=)
c.3264C= (p.Ser1088=)
c.2826C= (p.Ser942=)
n.4094C=
3g.47000017C>GCA433598193NBEAL2c.3918C>G (p.Ser1306=)
c.3816C>G (p.Ser1272=)
n.255C>G
c.1960-179C>G
c.390C>G (p.Ser130=)
c.3837C>G (p.Ser1279=)
c.3897C>G (p.Ser1299=)
c.3549C>G (p.Ser1183=)
c.3378C>G (p.Ser1126=)
c.3264C>G (p.Ser1088=)
c.2826C>G (p.Ser942=)
n.4094C>G
3g.47000017C>TCA2361109NBEAL2c.3918C>T (p.Ser1306=)
c.3816C>T (p.Ser1272=)
n.255C>T
c.1960-179C>T
c.390C>T (p.Ser130=)
c.3837C>T (p.Ser1279=)
c.3897C>T (p.Ser1299=)
c.3549C>T (p.Ser1183=)
c.3378C>T (p.Ser1126=)
c.3264C>T (p.Ser1088=)
c.2826C>T (p.Ser942=)
n.4094C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.47000018C>ACA352516350NBEAL2c.3919C>A (p.Pro1307Thr)
c.3817C>A (p.Pro1273Thr)
n.256C>A
c.1960-178C>A
c.391C>A (p.Pro131Thr)
c.3838C>A (p.Pro1280Thr)
c.3898C>A (p.Pro1300Thr)
c.3550C>A (p.Pro1184Thr)
c.3379C>A (p.Pro1127Thr)
c.3265C>A (p.Pro1089Thr)
c.2827C>A (p.Pro943Thr)
n.4095C>A
3g.47000018C=CA1362362975NBEAL2c.3919C= (p.Pro1307=)
c.3817C= (p.Pro1273=)
n.256C=
c.1960-178C=
c.391C= (p.Pro131=)
c.3838C= (p.Pro1280=)
c.3898C= (p.Pro1300=)
c.3550C= (p.Pro1184=)
c.3379C= (p.Pro1127=)
c.3265C= (p.Pro1089=)
c.2827C= (p.Pro943=)
n.4095C=
3g.47000018C>GCA352516349NBEAL2c.3919C>G (p.Pro1307Ala)
c.3817C>G (p.Pro1273Ala)
n.256C>G
c.1960-178C>G
c.391C>G (p.Pro131Ala)
c.3838C>G (p.Pro1280Ala)
c.3898C>G (p.Pro1300Ala)
c.3550C>G (p.Pro1184Ala)
c.3379C>G (p.Pro1127Ala)
c.3265C>G (p.Pro1089Ala)
c.2827C>G (p.Pro943Ala)
n.4095C>G
3g.47000018C>TCA2361110NBEAL2c.3919C>T (p.Pro1307Ser)
c.3817C>T (p.Pro1273Ser)
n.256C>T
c.1960-178C>T
c.391C>T (p.Pro131Ser)
c.3838C>T (p.Pro1280Ser)
c.3898C>T (p.Pro1300Ser)
c.3550C>T (p.Pro1184Ser)
c.3379C>T (p.Pro1127Ser)
c.3265C>T (p.Pro1089Ser)
c.2827C>T (p.Pro943Ser)
n.4095C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.47000019C>ACA352516351NBEAL2c.3920C>A (p.Pro1307Gln)
c.3818C>A (p.Pro1273Gln)
n.257C>A
c.1960-177C>A
c.392C>A (p.Pro131Gln)
c.3839C>A (p.Pro1280Gln)
c.3899C>A (p.Pro1300Gln)
c.3551C>A (p.Pro1184Gln)
c.3380C>A (p.Pro1127Gln)
c.3266C>A (p.Pro1089Gln)
c.2828C>A (p.Pro943Gln)
n.4096C>A
3g.47000019C>GCA352516353NBEAL2c.3920C>G (p.Pro1307Arg)
c.3818C>G (p.Pro1273Arg)
n.257C>G
c.1960-177C>G
c.392C>G (p.Pro131Arg)
c.3839C>G (p.Pro1280Arg)
c.3899C>G (p.Pro1300Arg)
c.3551C>G (p.Pro1184Arg)
c.3380C>G (p.Pro1127Arg)
c.3266C>G (p.Pro1089Arg)
c.2828C>G (p.Pro943Arg)
n.4096C>G
3g.47000019C>TCA352516354NBEAL2c.3920C>T (p.Pro1307Leu)
c.3818C>T (p.Pro1273Leu)
n.257C>T
c.1960-177C>T
c.392C>T (p.Pro131Leu)
c.3839C>T (p.Pro1280Leu)
c.3899C>T (p.Pro1300Leu)
c.3551C>T (p.Pro1184Leu)
c.3380C>T (p.Pro1127Leu)
c.3266C>T (p.Pro1089Leu)
c.2828C>T (p.Pro943Leu)
n.4096C>T
3g.47000020_47000031delCA2665493219NBEAL2c.3921_3932del (p.Glu1308_Thr1311del)
c.3819_3830del (p.Glu1274_Thr1277del)
n.258_269del
c.1960-176_1960-165del
c.393_404del (p.Glu132_Thr135del)
c.3840_3851del (p.Glu1281_Thr1284del)
c.3900_3911del (p.Glu1301_Thr1304del)
c.3552_3563del (p.Glu1185_Thr1188del)
c.3381_3392del (p.Glu1128_Thr1131del)
c.3267_3278del (p.Glu1090_Thr1093del)
c.2829_2840del (p.Glu944_Thr947del)
n.4097_4108del
 gnomAD v4
3g.47000020A=CA1362362976NBEAL2c.3921A= (p.Pro1307=)
c.3819A= (p.Pro1273=)
n.258A=
c.1960-176A=
c.393A= (p.Pro131=)
c.3840A= (p.Pro1280=)
c.3900A= (p.Pro1300=)
c.3552A= (p.Pro1184=)
c.3381A= (p.Pro1127=)
c.3267A= (p.Pro1089=)
c.2829A= (p.Pro943=)
n.4097A=
3g.47000020A>CCA433598194NBEAL2c.3921A>C (p.Pro1307=)
c.3819A>C (p.Pro1273=)
n.258A>C
c.1960-176A>C
c.393A>C (p.Pro131=)
c.3840A>C (p.Pro1280=)
c.3900A>C (p.Pro1300=)
c.3552A>C (p.Pro1184=)
c.3381A>C (p.Pro1127=)
c.3267A>C (p.Pro1089=)
c.2829A>C (p.Pro943=)
n.4097A>C
 gnomAD v3 gnomAD v4
3g.47000020A>GCA2361111NBEAL2c.3921A>G (p.Pro1307=)
c.3819A>G (p.Pro1273=)
n.258A>G
c.1960-176A>G
c.393A>G (p.Pro131=)
c.3840A>G (p.Pro1280=)
c.3900A>G (p.Pro1300=)
c.3552A>G (p.Pro1184=)
c.3381A>G (p.Pro1127=)
c.3267A>G (p.Pro1089=)
c.2829A>G (p.Pro943=)
n.4097A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.47000020A>TCA433598195NBEAL2c.3921A>T (p.Pro1307=)
c.3819A>T (p.Pro1273=)
n.258A>T
c.1960-176A>T
c.393A>T (p.Pro131=)
c.3840A>T (p.Pro1280=)
c.3900A>T (p.Pro1300=)
c.3552A>T (p.Pro1184=)
c.3381A>T (p.Pro1127=)
c.3267A>T (p.Pro1089=)
c.2829A>T (p.Pro943=)
n.4097A>T

Number of alleles fetched