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.47000117C>ACA352516737NBEAL2c.4018C>A (p.Pro1340Thr)
c.3916C>A (p.Pro1306Thr)
n.355C>A
c.1960-79C>A
c.490C>A (p.Pro164Thr)
c.3937C>A (p.Pro1313Thr)
c.3997C>A (p.Pro1333Thr)
c.3649C>A (p.Pro1217Thr)
c.3478C>A (p.Pro1160Thr)
c.3364C>A (p.Pro1122Thr)
c.2926C>A (p.Pro976Thr)
n.4194C>A
3g.47000117C=CA1362363026NBEAL2c.4018C= (p.Pro1340=)
c.3916C= (p.Pro1306=)
n.355C=
c.1960-79C=
c.490C= (p.Pro164=)
c.3937C= (p.Pro1313=)
c.3997C= (p.Pro1333=)
c.3649C= (p.Pro1217=)
c.3478C= (p.Pro1160=)
c.3364C= (p.Pro1122=)
c.2926C= (p.Pro976=)
n.4194C=
3g.47000117C>GCA73817724NBEAL2c.4018C>G (p.Pro1340Ala)
c.3916C>G (p.Pro1306Ala)
n.355C>G
c.1960-79C>G
c.490C>G (p.Pro164Ala)
c.3937C>G (p.Pro1313Ala)
c.3997C>G (p.Pro1333Ala)
c.3649C>G (p.Pro1217Ala)
c.3478C>G (p.Pro1160Ala)
c.3364C>G (p.Pro1122Ala)
c.2926C>G (p.Pro976Ala)
n.4194C>G
 dbSNP gnomAD v4
3g.47000117C>TCA352516738NBEAL2c.4018C>T (p.Pro1340Ser)
c.3916C>T (p.Pro1306Ser)
n.355C>T
c.1960-79C>T
c.490C>T (p.Pro164Ser)
c.3937C>T (p.Pro1313Ser)
c.3997C>T (p.Pro1333Ser)
c.3649C>T (p.Pro1217Ser)
c.3478C>T (p.Pro1160Ser)
c.3364C>T (p.Pro1122Ser)
c.2926C>T (p.Pro976Ser)
n.4194C>T
3g.47000118C>ACA352516741NBEAL2c.4019C>A (p.Pro1340His)
c.3917C>A (p.Pro1306His)
n.356C>A
c.1960-78C>A
c.491C>A (p.Pro164His)
c.3938C>A (p.Pro1313His)
c.3998C>A (p.Pro1333His)
c.3650C>A (p.Pro1217His)
c.3479C>A (p.Pro1160His)
c.3365C>A (p.Pro1122His)
c.2927C>A (p.Pro976His)
n.4195C>A
3g.47000118C=CA1362363027NBEAL2c.4019C= (p.Pro1340=)
c.3917C= (p.Pro1306=)
n.356C=
c.1960-78C=
c.491C= (p.Pro164=)
c.3938C= (p.Pro1313=)
c.3998C= (p.Pro1333=)
c.3650C= (p.Pro1217=)
c.3479C= (p.Pro1160=)
c.3365C= (p.Pro1122=)
c.2927C= (p.Pro976=)
n.4195C=
3g.47000118C>GCA352516740NBEAL2c.4019C>G (p.Pro1340Arg)
c.3917C>G (p.Pro1306Arg)
n.356C>G
c.1960-78C>G
c.491C>G (p.Pro164Arg)
c.3938C>G (p.Pro1313Arg)
c.3998C>G (p.Pro1333Arg)
c.3650C>G (p.Pro1217Arg)
c.3479C>G (p.Pro1160Arg)
c.3365C>G (p.Pro1122Arg)
c.2927C>G (p.Pro976Arg)
n.4195C>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.47000118C>TCA352516739NBEAL2c.4019C>T (p.Pro1340Leu)
c.3917C>T (p.Pro1306Leu)
n.356C>T
c.1960-78C>T
c.491C>T (p.Pro164Leu)
c.3938C>T (p.Pro1313Leu)
c.3998C>T (p.Pro1333Leu)
c.3650C>T (p.Pro1217Leu)
c.3479C>T (p.Pro1160Leu)
c.3365C>T (p.Pro1122Leu)
c.2927C>T (p.Pro976Leu)
n.4195C>T
3g.47000119T>ACA433598339NBEAL2c.4020T>A (p.Pro1340=)
c.3918T>A (p.Pro1306=)
n.357T>A
c.1960-77T>A
c.492T>A (p.Pro164=)
c.3939T>A (p.Pro1313=)
c.3999T>A (p.Pro1333=)
c.3651T>A (p.Pro1217=)
c.3480T>A (p.Pro1160=)
c.3366T>A (p.Pro1122=)
c.2928T>A (p.Pro976=)
n.4196T>A
3g.47000119T>CCA433598343NBEAL2c.4020T>C (p.Pro1340=)
c.3918T>C (p.Pro1306=)
n.357T>C
c.1960-77T>C
c.492T>C (p.Pro164=)
c.3939T>C (p.Pro1313=)
c.3999T>C (p.Pro1333=)
c.3651T>C (p.Pro1217=)
c.3480T>C (p.Pro1160=)
c.3366T>C (p.Pro1122=)
c.2928T>C (p.Pro976=)
n.4196T>C
3g.47000119T>GCA433598341NBEAL2c.4020T>G (p.Pro1340=)
c.3918T>G (p.Pro1306=)
n.357T>G
c.1960-77T>G
c.492T>G (p.Pro164=)
c.3939T>G (p.Pro1313=)
c.3999T>G (p.Pro1333=)
c.3651T>G (p.Pro1217=)
c.3480T>G (p.Pro1160=)
c.3366T>G (p.Pro1122=)
c.2928T>G (p.Pro976=)
n.4196T>G
 dbSNP gnomAD v2 gnomAD v4
3g.47000119T=CA1362363028NBEAL2c.4020T= (p.Pro1340=)
c.3918T= (p.Pro1306=)
n.357T=
c.1960-77T=
c.492T= (p.Pro164=)
c.3939T= (p.Pro1313=)
c.3999T= (p.Pro1333=)
c.3651T= (p.Pro1217=)
c.3480T= (p.Pro1160=)
c.3366T= (p.Pro1122=)
c.2928T= (p.Pro976=)
n.4196T=
3g.47000120G>ACA352516742NBEAL2c.4021G>A (p.Asp1341Asn)
c.3919G>A (p.Asp1307Asn)
n.358G>A
c.1960-76G>A
c.493G>A (p.Asp165Asn)
c.3940G>A (p.Asp1314Asn)
c.4000G>A (p.Asp1334Asn)
c.3652G>A (p.Asp1218Asn)
c.3481G>A (p.Asp1161Asn)
c.3367G>A (p.Asp1123Asn)
c.2929G>A (p.Asp977Asn)
n.4197G>A
3g.47000120G>CCA352516743NBEAL2c.4021G>C (p.Asp1341His)
c.3919G>C (p.Asp1307His)
n.358G>C
c.1960-76G>C
c.493G>C (p.Asp165His)
c.3940G>C (p.Asp1314His)
c.4000G>C (p.Asp1334His)
c.3652G>C (p.Asp1218His)
c.3481G>C (p.Asp1161His)
c.3367G>C (p.Asp1123His)
c.2929G>C (p.Asp977His)
n.4197G>C
3g.47000120G>TCA352516744NBEAL2c.4021G>T (p.Asp1341Tyr)
c.3919G>T (p.Asp1307Tyr)
n.358G>T
c.1960-76G>T
c.493G>T (p.Asp165Tyr)
c.3940G>T (p.Asp1314Tyr)
c.4000G>T (p.Asp1334Tyr)
c.3652G>T (p.Asp1218Tyr)
c.3481G>T (p.Asp1161Tyr)
c.3367G>T (p.Asp1123Tyr)
c.2929G>T (p.Asp977Tyr)
n.4197G>T
3g.47000121A=CA1362363029NBEAL2c.4022A= (p.Asp1341=)
c.3920A= (p.Asp1307=)
n.359A=
c.1960-75A=
c.494A= (p.Asp165=)
c.3941A= (p.Asp1314=)
c.4001A= (p.Asp1334=)
c.3653A= (p.Asp1218=)
c.3482A= (p.Asp1161=)
c.3368A= (p.Asp1123=)
c.2930A= (p.Asp977=)
n.4198A=
3g.47000121A>CCA352516745NBEAL2c.4022A>C (p.Asp1341Ala)
c.3920A>C (p.Asp1307Ala)
n.359A>C
c.1960-75A>C
c.494A>C (p.Asp165Ala)
c.3941A>C (p.Asp1314Ala)
c.4001A>C (p.Asp1334Ala)
c.3653A>C (p.Asp1218Ala)
c.3482A>C (p.Asp1161Ala)
c.3368A>C (p.Asp1123Ala)
c.2930A>C (p.Asp977Ala)
n.4198A>C
3g.47000121A>GCA352516746NBEAL2c.4022A>G (p.Asp1341Gly)
c.3920A>G (p.Asp1307Gly)
n.359A>G
c.1960-75A>G
c.494A>G (p.Asp165Gly)
c.3941A>G (p.Asp1314Gly)
c.4001A>G (p.Asp1334Gly)
c.3653A>G (p.Asp1218Gly)
c.3482A>G (p.Asp1161Gly)
c.3368A>G (p.Asp1123Gly)
c.2930A>G (p.Asp977Gly)
n.4198A>G
 dbSNP gnomAD v2
3g.47000121A>TCA352516747NBEAL2c.4022A>T (p.Asp1341Val)
c.3920A>T (p.Asp1307Val)
n.359A>T
c.1960-75A>T
c.494A>T (p.Asp165Val)
c.3941A>T (p.Asp1314Val)
c.4001A>T (p.Asp1334Val)
c.3653A>T (p.Asp1218Val)
c.3482A>T (p.Asp1161Val)
c.3368A>T (p.Asp1123Val)
c.2930A>T (p.Asp977Val)
n.4198A>T
3g.47000122C>ACA352516748NBEAL2c.4023C>A (p.Asp1341Glu)
c.3921C>A (p.Asp1307Glu)
n.360C>A
c.1960-74C>A
c.495C>A (p.Asp165Glu)
c.3942C>A (p.Asp1314Glu)
c.4002C>A (p.Asp1334Glu)
c.3654C>A (p.Asp1218Glu)
c.3483C>A (p.Asp1161Glu)
c.3369C>A (p.Asp1123Glu)
c.2931C>A (p.Asp977Glu)
n.4199C>A
3g.47000122C>GCA352516749NBEAL2c.4023C>G (p.Asp1341Glu)
c.3921C>G (p.Asp1307Glu)
n.360C>G
c.1960-74C>G
c.495C>G (p.Asp165Glu)
c.3942C>G (p.Asp1314Glu)
c.4002C>G (p.Asp1334Glu)
c.3654C>G (p.Asp1218Glu)
c.3483C>G (p.Asp1161Glu)
c.3369C>G (p.Asp1123Glu)
c.2931C>G (p.Asp977Glu)
n.4199C>G
3g.47000122C>TCA433598346NBEAL2c.4023C>T (p.Asp1341=)
c.3921C>T (p.Asp1307=)
n.360C>T
c.1960-74C>T
c.495C>T (p.Asp165=)
c.3942C>T (p.Asp1314=)
c.4002C>T (p.Asp1334=)
c.3654C>T (p.Asp1218=)
c.3483C>T (p.Asp1161=)
c.3369C>T (p.Asp1123=)
c.2931C>T (p.Asp977=)
n.4199C>T
 gnomAD v4
3g.47000123C>ACA352516750NBEAL2c.4024C>A (p.Pro1342Thr)
c.3922C>A (p.Pro1308Thr)
n.361C>A
c.1960-73C>A
c.496C>A (p.Pro166Thr)
c.3943C>A (p.Pro1315Thr)
c.4003C>A (p.Pro1335Thr)
c.3655C>A (p.Pro1219Thr)
c.3484C>A (p.Pro1162Thr)
c.3370C>A (p.Pro1124Thr)
c.2932C>A (p.Pro978Thr)
n.4200C>A
3g.47000123C>GCA352516751NBEAL2c.4024C>G (p.Pro1342Ala)
c.3922C>G (p.Pro1308Ala)
n.361C>G
c.1960-73C>G
c.496C>G (p.Pro166Ala)
c.3943C>G (p.Pro1315Ala)
c.4003C>G (p.Pro1335Ala)
c.3655C>G (p.Pro1219Ala)
c.3484C>G (p.Pro1162Ala)
c.3370C>G (p.Pro1124Ala)
c.2932C>G (p.Pro978Ala)
n.4200C>G
3g.47000123C>TCA352516752NBEAL2c.4024C>T (p.Pro1342Ser)
c.3922C>T (p.Pro1308Ser)
n.361C>T
c.1960-73C>T
c.496C>T (p.Pro166Ser)
c.3943C>T (p.Pro1315Ser)
c.4003C>T (p.Pro1335Ser)
c.3655C>T (p.Pro1219Ser)
c.3484C>T (p.Pro1162Ser)
c.3370C>T (p.Pro1124Ser)
c.2932C>T (p.Pro978Ser)
n.4200C>T
 dbSNP
3g.47000124C>ACA352516755NBEAL2c.4025C>A (p.Pro1342His)
c.3923C>A (p.Pro1308His)
n.362C>A
c.1960-72C>A
c.497C>A (p.Pro166His)
c.3944C>A (p.Pro1315His)
c.4004C>A (p.Pro1335His)
c.3656C>A (p.Pro1219His)
c.3485C>A (p.Pro1162His)
c.3371C>A (p.Pro1124His)
c.2933C>A (p.Pro978His)
n.4201C>A
3g.47000124C>GCA352516754NBEAL2c.4025C>G (p.Pro1342Arg)
c.3923C>G (p.Pro1308Arg)
n.362C>G
c.1960-72C>G
c.497C>G (p.Pro166Arg)
c.3944C>G (p.Pro1315Arg)
c.4004C>G (p.Pro1335Arg)
c.3656C>G (p.Pro1219Arg)
c.3485C>G (p.Pro1162Arg)
c.3371C>G (p.Pro1124Arg)
c.2933C>G (p.Pro978Arg)
n.4201C>G
3g.47000124C>TCA352516753NBEAL2c.4025C>T (p.Pro1342Leu)
c.3923C>T (p.Pro1308Leu)
n.362C>T
c.1960-72C>T
c.497C>T (p.Pro166Leu)
c.3944C>T (p.Pro1315Leu)
c.4004C>T (p.Pro1335Leu)
c.3656C>T (p.Pro1219Leu)
c.3485C>T (p.Pro1162Leu)
c.3371C>T (p.Pro1124Leu)
c.2933C>T (p.Pro978Leu)
n.4201C>T
3g.47000125T>ACA433598347NBEAL2c.4026T>A (p.Pro1342=)
c.3924T>A (p.Pro1308=)
n.363T>A
c.1960-71T>A
c.498T>A (p.Pro166=)
c.3945T>A (p.Pro1315=)
c.4005T>A (p.Pro1335=)
c.3657T>A (p.Pro1219=)
c.3486T>A (p.Pro1162=)
c.3372T>A (p.Pro1124=)
c.2934T>A (p.Pro978=)
n.4202T>A
3g.47000125T>CCA2361127NBEAL2c.4026T>C (p.Pro1342=)
c.3924T>C (p.Pro1308=)
n.363T>C
c.1960-71T>C
c.498T>C (p.Pro166=)
c.3945T>C (p.Pro1315=)
c.4005T>C (p.Pro1335=)
c.3657T>C (p.Pro1219=)
c.3486T>C (p.Pro1162=)
c.3372T>C (p.Pro1124=)
c.2934T>C (p.Pro978=)
n.4202T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.47000125T>GCA433598349NBEAL2c.4026T>G (p.Pro1342=)
c.3924T>G (p.Pro1308=)
n.363T>G
c.1960-71T>G
c.498T>G (p.Pro166=)
c.3945T>G (p.Pro1315=)
c.4005T>G (p.Pro1335=)
c.3657T>G (p.Pro1219=)
c.3486T>G (p.Pro1162=)
c.3372T>G (p.Pro1124=)
c.2934T>G (p.Pro978=)
n.4202T>G
3g.47000125T=CA1362363030NBEAL2c.4026T= (p.Pro1342=)
c.3924T= (p.Pro1308=)
n.363T=
c.1960-71T=
c.498T= (p.Pro166=)
c.3945T= (p.Pro1315=)
c.4005T= (p.Pro1335=)
c.3657T= (p.Pro1219=)
c.3486T= (p.Pro1162=)
c.3372T= (p.Pro1124=)
c.2934T= (p.Pro978=)
n.4202T=
3g.47000126G>ACA352516756NBEAL2c.4027G>A (p.Asp1343Asn)
c.3925G>A (p.Asp1309Asn)
n.364G>A
c.1960-70G>A
c.499G>A (p.Asp167Asn)
c.3946G>A (p.Asp1316Asn)
c.4006G>A (p.Asp1336Asn)
c.3658G>A (p.Asp1220Asn)
c.3487G>A (p.Asp1163Asn)
c.3373G>A (p.Asp1125Asn)
c.2935G>A (p.Asp979Asn)
n.4203G>A
 dbSNP gnomAD v4
3g.47000126G>CCA352516757NBEAL2c.4027G>C (p.Asp1343His)
c.3925G>C (p.Asp1309His)
n.364G>C
c.1960-70G>C
c.499G>C (p.Asp167His)
c.3946G>C (p.Asp1316His)
c.4006G>C (p.Asp1336His)
c.3658G>C (p.Asp1220His)
c.3487G>C (p.Asp1163His)
c.3373G>C (p.Asp1125His)
c.2935G>C (p.Asp979His)
n.4203G>C
3g.47000126G=CA1362363031NBEAL2c.4027G= (p.Asp1343=)
c.3925G= (p.Asp1309=)
n.364G=
c.1960-70G=
c.499G= (p.Asp167=)
c.3946G= (p.Asp1316=)
c.4006G= (p.Asp1336=)
c.3658G= (p.Asp1220=)
c.3487G= (p.Asp1163=)
c.3373G= (p.Asp1125=)
c.2935G= (p.Asp979=)
n.4203G=
3g.47000126G>TCA352516758NBEAL2c.4027G>T (p.Asp1343Tyr)
c.3925G>T (p.Asp1309Tyr)
n.364G>T
c.1960-70G>T
c.499G>T (p.Asp167Tyr)
c.3946G>T (p.Asp1316Tyr)
c.4006G>T (p.Asp1336Tyr)
c.3658G>T (p.Asp1220Tyr)
c.3487G>T (p.Asp1163Tyr)
c.3373G>T (p.Asp1125Tyr)
c.2935G>T (p.Asp979Tyr)
n.4203G>T
3g.47000127A>CCA352516759NBEAL2c.4028A>C (p.Asp1343Ala)
c.3926A>C (p.Asp1309Ala)
n.365A>C
c.1960-69A>C
c.500A>C (p.Asp167Ala)
c.3947A>C (p.Asp1316Ala)
c.4007A>C (p.Asp1336Ala)
c.3659A>C (p.Asp1220Ala)
c.3488A>C (p.Asp1163Ala)
c.3374A>C (p.Asp1125Ala)
c.2936A>C (p.Asp979Ala)
n.4204A>C
3g.47000127A>GCA352516760NBEAL2c.4028A>G (p.Asp1343Gly)
c.3926A>G (p.Asp1309Gly)
n.365A>G
c.1960-69A>G
c.500A>G (p.Asp167Gly)
c.3947A>G (p.Asp1316Gly)
c.4007A>G (p.Asp1336Gly)
c.3659A>G (p.Asp1220Gly)
c.3488A>G (p.Asp1163Gly)
c.3374A>G (p.Asp1125Gly)
c.2936A>G (p.Asp979Gly)
n.4204A>G
3g.47000127A>TCA352516761NBEAL2c.4028A>T (p.Asp1343Val)
c.3926A>T (p.Asp1309Val)
n.365A>T
c.1960-69A>T
c.500A>T (p.Asp167Val)
c.3947A>T (p.Asp1316Val)
c.4007A>T (p.Asp1336Val)
c.3659A>T (p.Asp1220Val)
c.3488A>T (p.Asp1163Val)
c.3374A>T (p.Asp1125Val)
c.2936A>T (p.Asp979Val)
n.4204A>T
3g.47000127dupCA2577577260NBEAL2c.4028dup (p.Asp1343GlufsTer15)
c.3926dup (p.Asp1309GlufsTer15)
n.365dup
c.1960-69dup
c.500dup (p.Asp167GlufsTer15)
c.3947dup (p.Asp1316GlufsTer15)
c.4007dup (p.Asp1336GlufsTer15)
c.3659dup (p.Asp1220GlufsTer15)
c.3488dup (p.Asp1163GlufsTer15)
c.3374dup (p.Asp1125GlufsTer15)
c.2936dup (p.Asp979GlufsTer15)
n.4204dup
 gnomAD v4
3g.47000128T>ACA352516762NBEAL2c.4029T>A (p.Asp1343Glu)
c.3927T>A (p.Asp1309Glu)
n.366T>A
c.1960-68T>A
c.501T>A (p.Asp167Glu)
c.3948T>A (p.Asp1316Glu)
c.4008T>A (p.Asp1336Glu)
c.3660T>A (p.Asp1220Glu)
c.3489T>A (p.Asp1163Glu)
c.3375T>A (p.Asp1125Glu)
c.2937T>A (p.Asp979Glu)
n.4205T>A
3g.47000128T>CCA2361128NBEAL2c.4029T>C (p.Asp1343=)
c.3927T>C (p.Asp1309=)
n.366T>C
c.1960-68T>C
c.501T>C (p.Asp167=)
c.3948T>C (p.Asp1316=)
c.4008T>C (p.Asp1336=)
c.3660T>C (p.Asp1220=)
c.3489T>C (p.Asp1163=)
c.3375T>C (p.Asp1125=)
c.2937T>C (p.Asp979=)
n.4205T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.47000128T>GCA352516763NBEAL2c.4029T>G (p.Asp1343Glu)
c.3927T>G (p.Asp1309Glu)
n.366T>G
c.1960-68T>G
c.501T>G (p.Asp167Glu)
c.3948T>G (p.Asp1316Glu)
c.4008T>G (p.Asp1336Glu)
c.3660T>G (p.Asp1220Glu)
c.3489T>G (p.Asp1163Glu)
c.3375T>G (p.Asp1125Glu)
c.2937T>G (p.Asp979Glu)
n.4205T>G
3g.47000128T=CA1362363032NBEAL2c.4029T= (p.Asp1343=)
c.3927T= (p.Asp1309=)
n.366T=
c.1960-68T=
c.501T= (p.Asp167=)
c.3948T= (p.Asp1316=)
c.4008T= (p.Asp1336=)
c.3660T= (p.Asp1220=)
c.3489T= (p.Asp1163=)
c.3375T= (p.Asp1125=)
c.2937T= (p.Asp979=)
n.4205T=
3g.47000129G>ACA352516764NBEAL2c.4030G>A (p.Gly1344Ser)
c.3928G>A (p.Gly1310Ser)
n.367G>A
c.1960-67G>A
c.502G>A (p.Gly168Ser)
c.3949G>A (p.Gly1317Ser)
c.4009G>A (p.Gly1337Ser)
c.3661G>A (p.Gly1221Ser)
c.3490G>A (p.Gly1164Ser)
c.3376G>A (p.Gly1126Ser)
c.2938G>A (p.Gly980Ser)
n.4206G>A
3g.47000129G>CCA352516765NBEAL2c.4030G>C (p.Gly1344Arg)
c.3928G>C (p.Gly1310Arg)
n.367G>C
c.1960-67G>C
c.502G>C (p.Gly168Arg)
c.3949G>C (p.Gly1317Arg)
c.4009G>C (p.Gly1337Arg)
c.3661G>C (p.Gly1221Arg)
c.3490G>C (p.Gly1164Arg)
c.3376G>C (p.Gly1126Arg)
c.2938G>C (p.Gly980Arg)
n.4206G>C
3g.47000129G>TCA352516766NBEAL2c.4030G>T (p.Gly1344Cys)
c.3928G>T (p.Gly1310Cys)
n.367G>T
c.1960-67G>T
c.502G>T (p.Gly168Cys)
c.3949G>T (p.Gly1317Cys)
c.4009G>T (p.Gly1337Cys)
c.3661G>T (p.Gly1221Cys)
c.3490G>T (p.Gly1164Cys)
c.3376G>T (p.Gly1126Cys)
c.2938G>T (p.Gly980Cys)
n.4206G>T
3g.47000130G>ACA352516769NBEAL2c.4031G>A (p.Gly1344Asp)
c.3929G>A (p.Gly1310Asp)
n.368G>A
c.1960-66G>A
c.503G>A (p.Gly168Asp)
c.3950G>A (p.Gly1317Asp)
c.4010G>A (p.Gly1337Asp)
c.3662G>A (p.Gly1221Asp)
c.3491G>A (p.Gly1164Asp)
c.3377G>A (p.Gly1126Asp)
c.2939G>A (p.Gly980Asp)
n.4207G>A
3g.47000130G>CCA352516767NBEAL2c.4031G>C (p.Gly1344Ala)
c.3929G>C (p.Gly1310Ala)
n.368G>C
c.1960-66G>C
c.503G>C (p.Gly168Ala)
c.3950G>C (p.Gly1317Ala)
c.4010G>C (p.Gly1337Ala)
c.3662G>C (p.Gly1221Ala)
c.3491G>C (p.Gly1164Ala)
c.3377G>C (p.Gly1126Ala)
c.2939G>C (p.Gly980Ala)
n.4207G>C
3g.47000130G>TCA352516768NBEAL2c.4031G>T (p.Gly1344Val)
c.3929G>T (p.Gly1310Val)
n.368G>T
c.1960-66G>T
c.503G>T (p.Gly168Val)
c.3950G>T (p.Gly1317Val)
c.4010G>T (p.Gly1337Val)
c.3662G>T (p.Gly1221Val)
c.3491G>T (p.Gly1164Val)
c.3377G>T (p.Gly1126Val)
c.2939G>T (p.Gly980Val)
n.4207G>T
3g.47000131C>ACA433598355NBEAL2c.4032C>A (p.Gly1344=)
c.3930C>A (p.Gly1310=)
n.369C>A
c.1960-65C>A
c.504C>A (p.Gly168=)
c.3951C>A (p.Gly1317=)
c.4011C>A (p.Gly1337=)
c.3663C>A (p.Gly1221=)
c.3492C>A (p.Gly1164=)
c.3378C>A (p.Gly1126=)
c.2940C>A (p.Gly980=)
n.4208C>A
3g.47000131C=CA1362363033NBEAL2c.4032C= (p.Gly1344=)
c.3930C= (p.Gly1310=)
n.369C=
c.1960-65C=
c.504C= (p.Gly168=)
c.3951C= (p.Gly1317=)
c.4011C= (p.Gly1337=)
c.3663C= (p.Gly1221=)
c.3492C= (p.Gly1164=)
c.3378C= (p.Gly1126=)
c.2940C= (p.Gly980=)
n.4208C=
3g.47000131C>GCA433598356NBEAL2c.4032C>G (p.Gly1344=)
c.3930C>G (p.Gly1310=)
n.369C>G
c.1960-65C>G
c.504C>G (p.Gly168=)
c.3951C>G (p.Gly1317=)
c.4011C>G (p.Gly1337=)
c.3663C>G (p.Gly1221=)
c.3492C>G (p.Gly1164=)
c.3378C>G (p.Gly1126=)
c.2940C>G (p.Gly980=)
n.4208C>G
3g.47000131C>TCA2361129NBEAL2c.4032C>T (p.Gly1344=)
c.3930C>T (p.Gly1310=)
n.369C>T
c.1960-65C>T
c.504C>T (p.Gly168=)
c.3951C>T (p.Gly1317=)
c.4011C>T (p.Gly1337=)
c.3663C>T (p.Gly1221=)
c.3492C>T (p.Gly1164=)
c.3378C>T (p.Gly1126=)
c.2940C>T (p.Gly980=)
n.4208C>T
 dbSNP ExAC gnomAD v3 gnomAD v4
3g.47000132T>ACA352516770NBEAL2c.4033T>A (p.Phe1345Ile)
c.3931T>A (p.Phe1311Ile)
n.370T>A
c.1960-64T>A
c.505T>A (p.Phe169Ile)
c.3952T>A (p.Phe1318Ile)
c.4012T>A (p.Phe1338Ile)
c.3664T>A (p.Phe1222Ile)
c.3493T>A (p.Phe1165Ile)
c.3379T>A (p.Phe1127Ile)
c.2941T>A (p.Phe981Ile)
n.4209T>A
 gnomAD v4
3g.47000132T>CCA352516771NBEAL2c.4033T>C (p.Phe1345Leu)
c.3931T>C (p.Phe1311Leu)
n.370T>C
c.1960-64T>C
c.505T>C (p.Phe169Leu)
c.3952T>C (p.Phe1318Leu)
c.4012T>C (p.Phe1338Leu)
c.3664T>C (p.Phe1222Leu)
c.3493T>C (p.Phe1165Leu)
c.3379T>C (p.Phe1127Leu)
c.2941T>C (p.Phe981Leu)
n.4209T>C
3g.47000132T>GCA352516772NBEAL2c.4033T>G (p.Phe1345Val)
c.3931T>G (p.Phe1311Val)
n.370T>G
c.1960-64T>G
c.505T>G (p.Phe169Val)
c.3952T>G (p.Phe1318Val)
c.4012T>G (p.Phe1338Val)
c.3664T>G (p.Phe1222Val)
c.3493T>G (p.Phe1165Val)
c.3379T>G (p.Phe1127Val)
c.2941T>G (p.Phe981Val)
n.4209T>G
3g.47000135delCA433598359NBEAL2c.4036del (p.Tyr1346ThrfsTer20)
c.3934del (p.Tyr1312ThrfsTer20)
n.373del
c.1960-61del
c.508del (p.Tyr170ThrfsTer20)
c.3955del (p.Tyr1319ThrfsTer20)
c.4015del (p.Tyr1339ThrfsTer20)
c.3667del (p.Tyr1223ThrfsTer20)
c.3496del (p.Tyr1166ThrfsTer20)
c.3382del (p.Tyr1128ThrfsTer20)
c.2944del (p.Tyr982ThrfsTer20)
n.4212del
 COSMIC
3g.47000133T>ACA352516773NBEAL2c.4034T>A (p.Phe1345Tyr)
c.3932T>A (p.Phe1311Tyr)
n.371T>A
c.1960-63T>A
c.506T>A (p.Phe169Tyr)
c.3953T>A (p.Phe1318Tyr)
c.4013T>A (p.Phe1338Tyr)
c.3665T>A (p.Phe1222Tyr)
c.3494T>A (p.Phe1165Tyr)
c.3380T>A (p.Phe1127Tyr)
c.2942T>A (p.Phe981Tyr)
n.4210T>A
3g.47000133T>CCA352516774NBEAL2c.4034T>C (p.Phe1345Ser)
c.3932T>C (p.Phe1311Ser)
n.371T>C
c.1960-63T>C
c.506T>C (p.Phe169Ser)
c.3953T>C (p.Phe1318Ser)
c.4013T>C (p.Phe1338Ser)
c.3665T>C (p.Phe1222Ser)
c.3494T>C (p.Phe1165Ser)
c.3380T>C (p.Phe1127Ser)
c.2942T>C (p.Phe981Ser)
n.4210T>C
3g.47000133T>GCA352516775NBEAL2c.4034T>G (p.Phe1345Cys)
c.3932T>G (p.Phe1311Cys)
n.371T>G
c.1960-63T>G
c.506T>G (p.Phe169Cys)
c.3953T>G (p.Phe1318Cys)
c.4013T>G (p.Phe1338Cys)
c.3665T>G (p.Phe1222Cys)
c.3494T>G (p.Phe1165Cys)
c.3380T>G (p.Phe1127Cys)
c.2942T>G (p.Phe981Cys)
n.4210T>G
3g.47000134T>ACA352516776NBEAL2c.4035T>A (p.Phe1345Leu)
c.3933T>A (p.Phe1311Leu)
n.372T>A
c.1960-62T>A
c.507T>A (p.Phe169Leu)
c.3954T>A (p.Phe1318Leu)
c.4014T>A (p.Phe1338Leu)
c.3666T>A (p.Phe1222Leu)
c.3495T>A (p.Phe1165Leu)
c.3381T>A (p.Phe1127Leu)
c.2943T>A (p.Phe981Leu)
n.4211T>A
3g.47000134T>CCA433598361NBEAL2c.4035T>C (p.Phe1345=)
c.3933T>C (p.Phe1311=)
n.372T>C
c.1960-62T>C
c.507T>C (p.Phe169=)
c.3954T>C (p.Phe1318=)
c.4014T>C (p.Phe1338=)
c.3666T>C (p.Phe1222=)
c.3495T>C (p.Phe1165=)
c.3381T>C (p.Phe1127=)
c.2943T>C (p.Phe981=)
n.4211T>C
3g.47000134T>GCA352516777NBEAL2c.4035T>G (p.Phe1345Leu)
c.3933T>G (p.Phe1311Leu)
n.372T>G
c.1960-62T>G
c.507T>G (p.Phe169Leu)
c.3954T>G (p.Phe1318Leu)
c.4014T>G (p.Phe1338Leu)
c.3666T>G (p.Phe1222Leu)
c.3495T>G (p.Phe1165Leu)
c.3381T>G (p.Phe1127Leu)
c.2943T>G (p.Phe981Leu)
n.4211T>G
3g.47000135T>ACA352516778NBEAL2c.4036T>A (p.Tyr1346Asn)
c.3934T>A (p.Tyr1312Asn)
n.373T>A
c.1960-61T>A
c.508T>A (p.Tyr170Asn)
c.3955T>A (p.Tyr1319Asn)
c.4015T>A (p.Tyr1339Asn)
c.3667T>A (p.Tyr1223Asn)
c.3496T>A (p.Tyr1166Asn)
c.3382T>A (p.Tyr1128Asn)
c.2944T>A (p.Tyr982Asn)
n.4212T>A
3g.47000135T>CCA352516779NBEAL2c.4036T>C (p.Tyr1346His)
c.3934T>C (p.Tyr1312His)
n.373T>C
c.1960-61T>C
c.508T>C (p.Tyr170His)
c.3955T>C (p.Tyr1319His)
c.4015T>C (p.Tyr1339His)
c.3667T>C (p.Tyr1223His)
c.3496T>C (p.Tyr1166His)
c.3382T>C (p.Tyr1128His)
c.2944T>C (p.Tyr982His)
n.4212T>C
 gnomAD v4
3g.47000135T>GCA352516780NBEAL2c.4036T>G (p.Tyr1346Asp)
c.3934T>G (p.Tyr1312Asp)
n.373T>G
c.1960-61T>G
c.508T>G (p.Tyr170Asp)
c.3955T>G (p.Tyr1319Asp)
c.4015T>G (p.Tyr1339Asp)
c.3667T>G (p.Tyr1223Asp)
c.3496T>G (p.Tyr1166Asp)
c.3382T>G (p.Tyr1128Asp)
c.2944T>G (p.Tyr982Asp)
n.4212T>G
3g.47000136A>CCA352516783NBEAL2c.4037A>C (p.Tyr1346Ser)
c.3935A>C (p.Tyr1312Ser)
n.374A>C
c.1960-60A>C
c.509A>C (p.Tyr170Ser)
c.3956A>C (p.Tyr1319Ser)
c.4016A>C (p.Tyr1339Ser)
c.3668A>C (p.Tyr1223Ser)
c.3497A>C (p.Tyr1166Ser)
c.3383A>C (p.Tyr1128Ser)
c.2945A>C (p.Tyr982Ser)
n.4213A>C
3g.47000136A>GCA352516782NBEAL2c.4037A>G (p.Tyr1346Cys)
c.3935A>G (p.Tyr1312Cys)
n.374A>G
c.1960-60A>G
c.509A>G (p.Tyr170Cys)
c.3956A>G (p.Tyr1319Cys)
c.4016A>G (p.Tyr1339Cys)
c.3668A>G (p.Tyr1223Cys)
c.3497A>G (p.Tyr1166Cys)
c.3383A>G (p.Tyr1128Cys)
c.2945A>G (p.Tyr982Cys)
n.4213A>G
3g.47000136A>TCA352516781NBEAL2c.4037A>T (p.Tyr1346Phe)
c.3935A>T (p.Tyr1312Phe)
n.374A>T
c.1960-60A>T
c.509A>T (p.Tyr170Phe)
c.3956A>T (p.Tyr1319Phe)
c.4016A>T (p.Tyr1339Phe)
c.3668A>T (p.Tyr1223Phe)
c.3497A>T (p.Tyr1166Phe)
c.3383A>T (p.Tyr1128Phe)
c.2945A>T (p.Tyr982Phe)
n.4213A>T
3g.47000137C>ACA352516785NBEAL2c.4038C>A (p.Tyr1346Ter)
c.3936C>A (p.Tyr1312Ter)
n.375C>A
c.1960-59C>A
c.510C>A (p.Tyr170Ter)
c.3957C>A (p.Tyr1319Ter)
c.4017C>A (p.Tyr1339Ter)
c.3669C>A (p.Tyr1223Ter)
c.3498C>A (p.Tyr1166Ter)
c.3384C>A (p.Tyr1128Ter)
c.2946C>A (p.Tyr982Ter)
n.4214C>A
3g.47000137C=CA1362363034NBEAL2c.4038C= (p.Tyr1346=)
c.3936C= (p.Tyr1312=)
n.375C=
c.1960-59C=
c.510C= (p.Tyr170=)
c.3957C= (p.Tyr1319=)
c.4017C= (p.Tyr1339=)
c.3669C= (p.Tyr1223=)
c.3498C= (p.Tyr1166=)
c.3384C= (p.Tyr1128=)
c.2946C= (p.Tyr982=)
n.4214C=
3g.47000137C>GCA352516784NBEAL2c.4038C>G (p.Tyr1346Ter)
c.3936C>G (p.Tyr1312Ter)
n.375C>G
c.1960-59C>G
c.510C>G (p.Tyr170Ter)
c.3957C>G (p.Tyr1319Ter)
c.4017C>G (p.Tyr1339Ter)
c.3669C>G (p.Tyr1223Ter)
c.3498C>G (p.Tyr1166Ter)
c.3384C>G (p.Tyr1128Ter)
c.2946C>G (p.Tyr982Ter)
n.4214C>G
3g.47000137C>TCA2361130NBEAL2c.4038C>T (p.Tyr1346=)
c.3936C>T (p.Tyr1312=)
n.375C>T
c.1960-59C>T
c.510C>T (p.Tyr170=)
c.3957C>T (p.Tyr1319=)
c.4017C>T (p.Tyr1339=)
c.3669C>T (p.Tyr1223=)
c.3498C>T (p.Tyr1166=)
c.3384C>T (p.Tyr1128=)
c.2946C>T (p.Tyr982=)
n.4214C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.47000138C>ACA352516786NBEAL2c.4039C>A (p.His1347Asn)
c.3937C>A (p.His1313Asn)
n.376C>A
c.1960-58C>A
c.511C>A (p.His171Asn)
c.3958C>A (p.His1320Asn)
c.4018C>A (p.His1340Asn)
c.3670C>A (p.His1224Asn)
c.3499C>A (p.His1167Asn)
c.3385C>A (p.His1129Asn)
c.2947C>A (p.His983Asn)
n.4215C>A
3g.47000138C>GCA352516787NBEAL2c.4039C>G (p.His1347Asp)
c.3937C>G (p.His1313Asp)
n.376C>G
c.1960-58C>G
c.511C>G (p.His171Asp)
c.3958C>G (p.His1320Asp)
c.4018C>G (p.His1340Asp)
c.3670C>G (p.His1224Asp)
c.3499C>G (p.His1167Asp)
c.3385C>G (p.His1129Asp)
c.2947C>G (p.His983Asp)
n.4215C>G
 gnomAD v4
3g.47000138C>TCA352516788NBEAL2c.4039C>T (p.His1347Tyr)
c.3937C>T (p.His1313Tyr)
n.376C>T
c.1960-58C>T
c.511C>T (p.His171Tyr)
c.3958C>T (p.His1320Tyr)
c.4018C>T (p.His1340Tyr)
c.3670C>T (p.His1224Tyr)
c.3499C>T (p.His1167Tyr)
c.3385C>T (p.His1129Tyr)
c.2947C>T (p.His983Tyr)
n.4215C>T
3g.47000139A>CCA352516789NBEAL2c.4040A>C (p.His1347Pro)
c.3938A>C (p.His1313Pro)
n.377A>C
c.1960-57A>C
c.512A>C (p.His171Pro)
c.3959A>C (p.His1320Pro)
c.4019A>C (p.His1340Pro)
c.3671A>C (p.His1224Pro)
c.3500A>C (p.His1167Pro)
c.3386A>C (p.His1129Pro)
c.2948A>C (p.His983Pro)
n.4216A>C
3g.47000139A>GCA352516790NBEAL2c.4040A>G (p.His1347Arg)
c.3938A>G (p.His1313Arg)
n.377A>G
c.1960-57A>G
c.512A>G (p.His171Arg)
c.3959A>G (p.His1320Arg)
c.4019A>G (p.His1340Arg)
c.3671A>G (p.His1224Arg)
c.3500A>G (p.His1167Arg)
c.3386A>G (p.His1129Arg)
c.2948A>G (p.His983Arg)
n.4216A>G
3g.47000139A>TCA352516791NBEAL2c.4040A>T (p.His1347Leu)
c.3938A>T (p.His1313Leu)
n.377A>T
c.1960-57A>T
c.512A>T (p.His171Leu)
c.3959A>T (p.His1320Leu)
c.4019A>T (p.His1340Leu)
c.3671A>T (p.His1224Leu)
c.3500A>T (p.His1167Leu)
c.3386A>T (p.His1129Leu)
c.2948A>T (p.His983Leu)
n.4216A>T
3g.47000140T>ACA352516792NBEAL2c.4041T>A (p.His1347Gln)
c.3939T>A (p.His1313Gln)
n.378T>A
c.1960-56T>A
c.513T>A (p.His171Gln)
c.3960T>A (p.His1320Gln)
c.4020T>A (p.His1340Gln)
c.3672T>A (p.His1224Gln)
c.3501T>A (p.His1167Gln)
c.3387T>A (p.His1129Gln)
c.2949T>A (p.His983Gln)
n.4217T>A
 gnomAD v4
3g.47000140T>CCA2361131NBEAL2c.4041T>C (p.His1347=)
c.3939T>C (p.His1313=)
n.378T>C
c.1960-56T>C
c.513T>C (p.His171=)
c.3960T>C (p.His1320=)
c.4020T>C (p.His1340=)
c.3672T>C (p.His1224=)
c.3501T>C (p.His1167=)
c.3387T>C (p.His1129=)
c.2949T>C (p.His983=)
n.4217T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.47000140T>GCA352516793NBEAL2c.4041T>G (p.His1347Gln)
c.3939T>G (p.His1313Gln)
n.378T>G
c.1960-56T>G
c.513T>G (p.His171Gln)
c.3960T>G (p.His1320Gln)
c.4020T>G (p.His1340Gln)
c.3672T>G (p.His1224Gln)
c.3501T>G (p.His1167Gln)
c.3387T>G (p.His1129Gln)
c.2949T>G (p.His983Gln)
n.4217T>G
3g.47000140T=CA1362363035NBEAL2c.4041T= (p.His1347=)
c.3939T= (p.His1313=)
n.378T=
c.1960-56T=
c.513T= (p.His171=)
c.3960T= (p.His1320=)
c.4020T= (p.His1340=)
c.3672T= (p.His1224=)
c.3501T= (p.His1167=)
c.3387T= (p.His1129=)
c.2949T= (p.His983=)
n.4217T=
3g.47000141G>ACA352516794NBEAL2c.4042G>A (p.Ala1348Thr)
c.3940G>A (p.Ala1314Thr)
n.379G>A
c.1960-55G>A
c.514G>A (p.Ala172Thr)
c.3961G>A (p.Ala1321Thr)
c.4021G>A (p.Ala1341Thr)
c.3673G>A (p.Ala1225Thr)
c.3502G>A (p.Ala1168Thr)
c.3388G>A (p.Ala1130Thr)
c.2950G>A (p.Ala984Thr)
n.4218G>A
3g.47000141G>CCA352516795NBEAL2c.4042G>C (p.Ala1348Pro)
c.3940G>C (p.Ala1314Pro)
n.379G>C
c.1960-55G>C
c.514G>C (p.Ala172Pro)
c.3961G>C (p.Ala1321Pro)
c.4021G>C (p.Ala1341Pro)
c.3673G>C (p.Ala1225Pro)
c.3502G>C (p.Ala1168Pro)
c.3388G>C (p.Ala1130Pro)
c.2950G>C (p.Ala984Pro)
n.4218G>C
3g.47000141G>TCA352516796NBEAL2c.4042G>T (p.Ala1348Ser)
c.3940G>T (p.Ala1314Ser)
n.379G>T
c.1960-55G>T
c.514G>T (p.Ala172Ser)
c.3961G>T (p.Ala1321Ser)
c.4021G>T (p.Ala1341Ser)
c.3673G>T (p.Ala1225Ser)
c.3502G>T (p.Ala1168Ser)
c.3388G>T (p.Ala1130Ser)
c.2950G>T (p.Ala984Ser)
n.4218G>T
3g.47000141_47000143delinsGCTCA1362363036NBEAL2c.4042_4044delinsGCT (p.Ala1348=)
c.3940_3942delinsGCT (p.Ala1314=)
n.379_381delinsGCT
c.1960-55_1960-53delinsGCT
c.514_516delinsGCT (p.Ala172=)
c.3961_3963delinsGCT (p.Ala1321=)
c.4021_4023delinsGCT (p.Ala1341=)
c.3673_3675delinsGCT (p.Ala1225=)
c.3502_3504delinsGCT (p.Ala1168=)
c.3388_3390delinsGCT (p.Ala1130=)
c.2950_2952delinsGCT (p.Ala984=)
n.4218_4220delinsGCT
3g.47000142C>ACA352516799NBEAL2c.4043C>A (p.Ala1348Asp)
c.3941C>A (p.Ala1314Asp)
n.380C>A
c.1960-54C>A
c.515C>A (p.Ala172Asp)
c.3962C>A (p.Ala1321Asp)
c.4022C>A (p.Ala1341Asp)
c.3674C>A (p.Ala1225Asp)
c.3503C>A (p.Ala1168Asp)
c.3389C>A (p.Ala1130Asp)
c.2951C>A (p.Ala984Asp)
n.4219C>A
 COSMIC
3g.47000142C>GCA352516797NBEAL2c.4043C>G (p.Ala1348Gly)
c.3941C>G (p.Ala1314Gly)
n.380C>G
c.1960-54C>G
c.515C>G (p.Ala172Gly)
c.3962C>G (p.Ala1321Gly)
c.4022C>G (p.Ala1341Gly)
c.3674C>G (p.Ala1225Gly)
c.3503C>G (p.Ala1168Gly)
c.3389C>G (p.Ala1130Gly)
c.2951C>G (p.Ala984Gly)
n.4219C>G
3g.47000142C>TCA352516798NBEAL2c.4043C>T (p.Ala1348Val)
c.3941C>T (p.Ala1314Val)
n.380C>T
c.1960-54C>T
c.515C>T (p.Ala172Val)
c.3962C>T (p.Ala1321Val)
c.4022C>T (p.Ala1341Val)
c.3674C>T (p.Ala1225Val)
c.3503C>T (p.Ala1168Val)
c.3389C>T (p.Ala1130Val)
c.2951C>T (p.Ala984Val)
n.4219C>T
3g.47000147_47000148delCA1362363037NBEAL2c.4048_4049del (p.Ser1350ProfsTer7)
c.3946_3947del (p.Ser1316ProfsTer7)
n.385_386del
c.1960-49_1960-48del
c.520_521del (p.Ser174ProfsTer7)
c.3967_3968del (p.Ser1323ProfsTer7)
c.4027_4028del (p.Ser1343ProfsTer7)
c.3679_3680del (p.Ser1227ProfsTer7)
c.3508_3509del (p.Ser1170ProfsTer7)
c.3394_3395del (p.Ser1132ProfsTer7)
c.2956_2957del (p.Ser986ProfsTer7)
n.4224_4225del
3g.47000143T>ACA433598369NBEAL2c.4044T>A (p.Ala1348=)
c.3942T>A (p.Ala1314=)
n.381T>A
c.1960-53T>A
c.516T>A (p.Ala172=)
c.3963T>A (p.Ala1321=)
c.4023T>A (p.Ala1341=)
c.3675T>A (p.Ala1225=)
c.3504T>A (p.Ala1168=)
c.3390T>A (p.Ala1130=)
c.2952T>A (p.Ala984=)
n.4220T>A
3g.47000143T>CCA2361132NBEAL2c.4044T>C (p.Ala1348=)
c.3942T>C (p.Ala1314=)
n.381T>C
c.1960-53T>C
c.516T>C (p.Ala172=)
c.3963T>C (p.Ala1321=)
c.4023T>C (p.Ala1341=)
c.3675T>C (p.Ala1225=)
c.3504T>C (p.Ala1168=)
c.3390T>C (p.Ala1130=)
c.2952T>C (p.Ala984=)
n.4220T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.47000143T>GCA433598371NBEAL2c.4044T>G (p.Ala1348=)
c.3942T>G (p.Ala1314=)
n.381T>G
c.1960-53T>G
c.516T>G (p.Ala172=)
c.3963T>G (p.Ala1321=)
c.4023T>G (p.Ala1341=)
c.3675T>G (p.Ala1225=)
c.3504T>G (p.Ala1168=)
c.3390T>G (p.Ala1130=)
c.2952T>G (p.Ala984=)
n.4220T>G
3g.47000143T=CA1362363038NBEAL2c.4044T= (p.Ala1348=)
c.3942T= (p.Ala1314=)
n.381T=
c.1960-53T=
c.516T= (p.Ala172=)
c.3963T= (p.Ala1321=)
c.4023T= (p.Ala1341=)
c.3675T= (p.Ala1225=)
c.3504T= (p.Ala1168=)
c.3390T= (p.Ala1130=)
c.2952T= (p.Ala984=)
n.4220T=
3g.47000144C>ACA352516800NBEAL2c.4045C>A (p.Leu1349Ile)
c.3943C>A (p.Leu1315Ile)
n.382C>A
c.1960-52C>A
c.517C>A (p.Leu173Ile)
c.3964C>A (p.Leu1322Ile)
c.4024C>A (p.Leu1342Ile)
c.3676C>A (p.Leu1226Ile)
c.3505C>A (p.Leu1169Ile)
c.3391C>A (p.Leu1131Ile)
c.2953C>A (p.Leu985Ile)
n.4221C>A
3g.47000144C=CA1362363039NBEAL2c.4045C= (p.Leu1349=)
c.3943C= (p.Leu1315=)
n.382C=
c.1960-52C=
c.517C= (p.Leu173=)
c.3964C= (p.Leu1322=)
c.4024C= (p.Leu1342=)
c.3676C= (p.Leu1226=)
c.3505C= (p.Leu1169=)
c.3391C= (p.Leu1131=)
c.2953C= (p.Leu985=)
n.4221C=
3g.47000144C>GCA2361133NBEAL2c.4045C>G (p.Leu1349Val)
c.3943C>G (p.Leu1315Val)
n.382C>G
c.1960-52C>G
c.517C>G (p.Leu173Val)
c.3964C>G (p.Leu1322Val)
c.4024C>G (p.Leu1342Val)
c.3676C>G (p.Leu1226Val)
c.3505C>G (p.Leu1169Val)
c.3391C>G (p.Leu1131Val)
c.2953C>G (p.Leu985Val)
n.4221C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.47000144C>TCA352516801NBEAL2c.4045C>T (p.Leu1349Phe)
c.3943C>T (p.Leu1315Phe)
n.382C>T
c.1960-52C>T
c.517C>T (p.Leu173Phe)
c.3964C>T (p.Leu1322Phe)
c.4024C>T (p.Leu1342Phe)
c.3676C>T (p.Leu1226Phe)
c.3505C>T (p.Leu1169Phe)
c.3391C>T (p.Leu1131Phe)
c.2953C>T (p.Leu985Phe)
n.4221C>T
 gnomAD v4
3g.47000145T>ACA352516802NBEAL2c.4046T>A (p.Leu1349His)
c.3944T>A (p.Leu1315His)
n.383T>A
c.1960-51T>A
c.518T>A (p.Leu173His)
c.3965T>A (p.Leu1322His)
c.4025T>A (p.Leu1342His)
c.3677T>A (p.Leu1226His)
c.3506T>A (p.Leu1169His)
c.3392T>A (p.Leu1131His)
c.2954T>A (p.Leu985His)
n.4222T>A
 gnomAD v4
3g.47000145T>CCA352516803NBEAL2c.4046T>C (p.Leu1349Pro)
c.3944T>C (p.Leu1315Pro)
n.383T>C
c.1960-51T>C
c.518T>C (p.Leu173Pro)
c.3965T>C (p.Leu1322Pro)
c.4025T>C (p.Leu1342Pro)
c.3677T>C (p.Leu1226Pro)
c.3506T>C (p.Leu1169Pro)
c.3392T>C (p.Leu1131Pro)
c.2954T>C (p.Leu985Pro)
n.4222T>C
3g.47000145T>GCA352516804NBEAL2c.4046T>G (p.Leu1349Arg)
c.3944T>G (p.Leu1315Arg)
n.383T>G
c.1960-51T>G
c.518T>G (p.Leu173Arg)
c.3965T>G (p.Leu1322Arg)
c.4025T>G (p.Leu1342Arg)
c.3677T>G (p.Leu1226Arg)
c.3506T>G (p.Leu1169Arg)
c.3392T>G (p.Leu1131Arg)
c.2954T>G (p.Leu985Arg)
n.4222T>G
3g.47000146C>ACA433598372NBEAL2c.4047C>A (p.Leu1349=)
c.3945C>A (p.Leu1315=)
n.384C>A
c.1960-50C>A
c.519C>A (p.Leu173=)
c.3966C>A (p.Leu1322=)
c.4026C>A (p.Leu1342=)
c.3678C>A (p.Leu1226=)
c.3507C>A (p.Leu1169=)
c.3393C>A (p.Leu1131=)
c.2955C>A (p.Leu985=)
n.4223C>A
 ClinVar dbSNP gnomAD v4
3g.47000146C=CA1362363040NBEAL2c.4047C= (p.Leu1349=)
c.3945C= (p.Leu1315=)
n.384C=
c.1960-50C=
c.519C= (p.Leu173=)
c.3966C= (p.Leu1322=)
c.4026C= (p.Leu1342=)
c.3678C= (p.Leu1226=)
c.3507C= (p.Leu1169=)
c.3393C= (p.Leu1131=)
c.2955C= (p.Leu985=)
n.4223C=
3g.47000146C>GCA433598373NBEAL2c.4047C>G (p.Leu1349=)
c.3945C>G (p.Leu1315=)
n.384C>G
c.1960-50C>G
c.519C>G (p.Leu173=)
c.3966C>G (p.Leu1322=)
c.4026C>G (p.Leu1342=)
c.3678C>G (p.Leu1226=)
c.3507C>G (p.Leu1169=)
c.3393C>G (p.Leu1131=)
c.2955C>G (p.Leu985=)
n.4223C>G
3g.47000146C>TCA2361134NBEAL2c.4047C>T (p.Leu1349=)
c.3945C>T (p.Leu1315=)
n.384C>T
c.1960-50C>T
c.519C>T (p.Leu173=)
c.3966C>T (p.Leu1322=)
c.4026C>T (p.Leu1342=)
c.3678C>T (p.Leu1226=)
c.3507C>T (p.Leu1169=)
c.3393C>T (p.Leu1131=)
c.2955C>T (p.Leu985=)
n.4223C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.47000147T>ACA352516805NBEAL2c.4048T>A (p.Ser1350Thr)
c.3946T>A (p.Ser1316Thr)
n.385T>A
c.1960-49T>A
c.520T>A (p.Ser174Thr)
c.3967T>A (p.Ser1323Thr)
c.4027T>A (p.Ser1343Thr)
c.3679T>A (p.Ser1227Thr)
c.3508T>A (p.Ser1170Thr)
c.3394T>A (p.Ser1132Thr)
c.2956T>A (p.Ser986Thr)
n.4224T>A
3g.47000147T>CCA352516806NBEAL2c.4048T>C (p.Ser1350Pro)
c.3946T>C (p.Ser1316Pro)
n.385T>C
c.1960-49T>C
c.520T>C (p.Ser174Pro)
c.3967T>C (p.Ser1323Pro)
c.4027T>C (p.Ser1343Pro)
c.3679T>C (p.Ser1227Pro)
c.3508T>C (p.Ser1170Pro)
c.3394T>C (p.Ser1132Pro)
c.2956T>C (p.Ser986Pro)
n.4224T>C
 dbSNP
3g.47000147T>GCA352516807NBEAL2c.4048T>G (p.Ser1350Ala)
c.3946T>G (p.Ser1316Ala)
n.385T>G
c.1960-49T>G
c.520T>G (p.Ser174Ala)
c.3967T>G (p.Ser1323Ala)
c.4027T>G (p.Ser1343Ala)
c.3679T>G (p.Ser1227Ala)
c.3508T>G (p.Ser1170Ala)
c.3394T>G (p.Ser1132Ala)
c.2956T>G (p.Ser986Ala)
n.4224T>G
3g.47000147T=CA1362363041NBEAL2c.4048T= (p.Ser1350=)
c.3946T= (p.Ser1316=)
n.385T=
c.1960-49T=
c.520T= (p.Ser174=)
c.3967T= (p.Ser1323=)
c.4027T= (p.Ser1343=)
c.3679T= (p.Ser1227=)
c.3508T= (p.Ser1170=)
c.3394T= (p.Ser1132=)
c.2956T= (p.Ser986=)
n.4224T=
3g.47000148C>ACA352516808NBEAL2c.4049C>A (p.Ser1350Tyr)
c.3947C>A (p.Ser1316Tyr)
n.386C>A
c.1960-48C>A
c.521C>A (p.Ser174Tyr)
c.3968C>A (p.Ser1323Tyr)
c.4028C>A (p.Ser1343Tyr)
c.3680C>A (p.Ser1227Tyr)
c.3509C>A (p.Ser1170Tyr)
c.3395C>A (p.Ser1132Tyr)
c.2957C>A (p.Ser986Tyr)
n.4225C>A
3g.47000148C=CA1362363042NBEAL2c.4049C= (p.Ser1350=)
c.3947C= (p.Ser1316=)
n.386C=
c.1960-48C=
c.521C= (p.Ser174=)
c.3968C= (p.Ser1323=)
c.4028C= (p.Ser1343=)
c.3680C= (p.Ser1227=)
c.3509C= (p.Ser1170=)
c.3395C= (p.Ser1132=)
c.2957C= (p.Ser986=)
n.4225C=
3g.47000148C>GCA352516809NBEAL2c.4049C>G (p.Ser1350Cys)
c.3947C>G (p.Ser1316Cys)
n.386C>G
c.1960-48C>G
c.521C>G (p.Ser174Cys)
c.3968C>G (p.Ser1323Cys)
c.4028C>G (p.Ser1343Cys)
c.3680C>G (p.Ser1227Cys)
c.3509C>G (p.Ser1170Cys)
c.3395C>G (p.Ser1132Cys)
c.2957C>G (p.Ser986Cys)
n.4225C>G
3g.47000148C>TCA2361135NBEAL2c.4049C>T (p.Ser1350Phe)
c.3947C>T (p.Ser1316Phe)
n.386C>T
c.1960-48C>T
c.521C>T (p.Ser174Phe)
c.3968C>T (p.Ser1323Phe)
c.4028C>T (p.Ser1343Phe)
c.3680C>T (p.Ser1227Phe)
c.3509C>T (p.Ser1170Phe)
c.3395C>T (p.Ser1132Phe)
c.2957C>T (p.Ser986Phe)
n.4225C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.47000149C>ACA433598377NBEAL2c.4050C>A (p.Ser1350=)
c.3948C>A (p.Ser1316=)
n.387C>A
c.1960-47C>A
c.522C>A (p.Ser174=)
c.3969C>A (p.Ser1323=)
c.4029C>A (p.Ser1343=)
c.3681C>A (p.Ser1227=)
c.3510C>A (p.Ser1170=)
c.3396C>A (p.Ser1132=)
c.2958C>A (p.Ser986=)
n.4226C>A
 dbSNP gnomAD v3 gnomAD v4
3g.47000149C=CA1362363043NBEAL2c.4050C= (p.Ser1350=)
c.3948C= (p.Ser1316=)
n.387C=
c.1960-47C=
c.522C= (p.Ser174=)
c.3969C= (p.Ser1323=)
c.4029C= (p.Ser1343=)
c.3681C= (p.Ser1227=)
c.3510C= (p.Ser1170=)
c.3396C= (p.Ser1132=)
c.2958C= (p.Ser986=)
n.4226C=
3g.47000149C>GCA433598378NBEAL2c.4050C>G (p.Ser1350=)
c.3948C>G (p.Ser1316=)
n.387C>G
c.1960-47C>G
c.522C>G (p.Ser174=)
c.3969C>G (p.Ser1323=)
c.4029C>G (p.Ser1343=)
c.3681C>G (p.Ser1227=)
c.3510C>G (p.Ser1170=)
c.3396C>G (p.Ser1132=)
c.2958C>G (p.Ser986=)
n.4226C>G
3g.47000149C>TCA2361136NBEAL2c.4050C>T (p.Ser1350=)
c.3948C>T (p.Ser1316=)
n.387C>T
c.1960-47C>T
c.522C>T (p.Ser174=)
c.3969C>T (p.Ser1323=)
c.4029C>T (p.Ser1343=)
c.3681C>T (p.Ser1227=)
c.3510C>T (p.Ser1170=)
c.3396C>T (p.Ser1132=)
c.2958C>T (p.Ser986=)
n.4226C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.47000150C>ACA352516810NBEAL2c.4051C>A (p.Pro1351Thr)
c.3949C>A (p.Pro1317Thr)
n.388C>A
c.1960-46C>A
c.523C>A (p.Pro175Thr)
c.3970C>A (p.Pro1324Thr)
c.4030C>A (p.Pro1344Thr)
c.3682C>A (p.Pro1228Thr)
c.3511C>A (p.Pro1171Thr)
c.3397C>A (p.Pro1133Thr)
c.2959C>A (p.Pro987Thr)
n.4227C>A
3g.47000150C>GCA352516811NBEAL2c.4051C>G (p.Pro1351Ala)
c.3949C>G (p.Pro1317Ala)
n.388C>G
c.1960-46C>G
c.523C>G (p.Pro175Ala)
c.3970C>G (p.Pro1324Ala)
c.4030C>G (p.Pro1344Ala)
c.3682C>G (p.Pro1228Ala)
c.3511C>G (p.Pro1171Ala)
c.3397C>G (p.Pro1133Ala)
c.2959C>G (p.Pro987Ala)
n.4227C>G
3g.47000150C>TCA352516812NBEAL2c.4051C>T (p.Pro1351Ser)
c.3949C>T (p.Pro1317Ser)
n.388C>T
c.1960-46C>T
c.523C>T (p.Pro175Ser)
c.3970C>T (p.Pro1324Ser)
c.4030C>T (p.Pro1344Ser)
c.3682C>T (p.Pro1228Ser)
c.3511C>T (p.Pro1171Ser)
c.3397C>T (p.Pro1133Ser)
c.2959C>T (p.Pro987Ser)
n.4227C>T
3g.47000151C>ACA352516813NBEAL2c.4052C>A (p.Pro1351Gln)
c.3950C>A (p.Pro1317Gln)
n.389C>A
c.1960-45C>A
c.524C>A (p.Pro175Gln)
c.3971C>A (p.Pro1324Gln)
c.4031C>A (p.Pro1344Gln)
c.3683C>A (p.Pro1228Gln)
c.3512C>A (p.Pro1171Gln)
c.3398C>A (p.Pro1133Gln)
c.2960C>A (p.Pro987Gln)
n.4228C>A
 dbSNP gnomAD v2 gnomAD v4
3g.47000151C=CA1362363044NBEAL2c.4052C= (p.Pro1351=)
c.3950C= (p.Pro1317=)
n.389C=
c.1960-45C=
c.524C= (p.Pro175=)
c.3971C= (p.Pro1324=)
c.4031C= (p.Pro1344=)
c.3683C= (p.Pro1228=)
c.3512C= (p.Pro1171=)
c.3398C= (p.Pro1133=)
c.2960C= (p.Pro987=)
n.4228C=
3g.47000151C>GCA352516814NBEAL2c.4052C>G (p.Pro1351Arg)
c.3950C>G (p.Pro1317Arg)
n.389C>G
c.1960-45C>G
c.524C>G (p.Pro175Arg)
c.3971C>G (p.Pro1324Arg)
c.4031C>G (p.Pro1344Arg)
c.3683C>G (p.Pro1228Arg)
c.3512C>G (p.Pro1171Arg)
c.3398C>G (p.Pro1133Arg)
c.2960C>G (p.Pro987Arg)
n.4228C>G
 dbSNP
3g.47000151C>TCA352516815NBEAL2c.4052C>T (p.Pro1351Leu)
c.3950C>T (p.Pro1317Leu)
n.389C>T
c.1960-45C>T
c.524C>T (p.Pro175Leu)
c.3971C>T (p.Pro1324Leu)
c.4031C>T (p.Pro1344Leu)
c.3683C>T (p.Pro1228Leu)
c.3512C>T (p.Pro1171Leu)
c.3398C>T (p.Pro1133Leu)
c.2960C>T (p.Pro987Leu)
n.4228C>T
3g.47000152A>CCA433598380NBEAL2c.4053A>C (p.Pro1351=)
c.3951A>C (p.Pro1317=)
n.390A>C
c.1960-44A>C
c.525A>C (p.Pro175=)
c.3972A>C (p.Pro1324=)
c.4032A>C (p.Pro1344=)
c.3684A>C (p.Pro1228=)
c.3513A>C (p.Pro1171=)
c.3399A>C (p.Pro1133=)
c.2961A>C (p.Pro987=)
n.4229A>C
3g.47000152A>GCA433598381NBEAL2c.4053A>G (p.Pro1351=)
c.3951A>G (p.Pro1317=)
n.390A>G
c.1960-44A>G
c.525A>G (p.Pro175=)
c.3972A>G (p.Pro1324=)
c.4032A>G (p.Pro1344=)
c.3684A>G (p.Pro1228=)
c.3513A>G (p.Pro1171=)
c.3399A>G (p.Pro1133=)
c.2961A>G (p.Pro987=)
n.4229A>G
3g.47000152A>TCA433598382NBEAL2c.4053A>T (p.Pro1351=)
c.3951A>T (p.Pro1317=)
n.390A>T
c.1960-44A>T
c.525A>T (p.Pro175=)
c.3972A>T (p.Pro1324=)
c.4032A>T (p.Pro1344=)
c.3684A>T (p.Pro1228=)
c.3513A>T (p.Pro1171=)
c.3399A>T (p.Pro1133=)
c.2961A>T (p.Pro987=)
n.4229A>T
3g.47000153T>ACA352516816NBEAL2c.4054T>A (p.Phe1352Ile)
c.3952T>A (p.Phe1318Ile)
n.391T>A
c.1960-43T>A
c.526T>A (p.Phe176Ile)
c.3973T>A (p.Phe1325Ile)
c.4033T>A (p.Phe1345Ile)
c.3685T>A (p.Phe1229Ile)
c.3514T>A (p.Phe1172Ile)
c.3400T>A (p.Phe1134Ile)
c.2962T>A (p.Phe988Ile)
n.4230T>A
3g.47000153T>CCA352516817NBEAL2c.4054T>C (p.Phe1352Leu)
c.3952T>C (p.Phe1318Leu)
n.391T>C
c.1960-43T>C
c.526T>C (p.Phe176Leu)
c.3973T>C (p.Phe1325Leu)
c.4033T>C (p.Phe1345Leu)
c.3685T>C (p.Phe1229Leu)
c.3514T>C (p.Phe1172Leu)
c.3400T>C (p.Phe1134Leu)
c.2962T>C (p.Phe988Leu)
n.4230T>C
3g.47000153T>GCA352516818NBEAL2c.4054T>G (p.Phe1352Val)
c.3952T>G (p.Phe1318Val)
n.391T>G
c.1960-43T>G
c.526T>G (p.Phe176Val)
c.3973T>G (p.Phe1325Val)
c.4033T>G (p.Phe1345Val)
c.3685T>G (p.Phe1229Val)
c.3514T>G (p.Phe1172Val)
c.3400T>G (p.Phe1134Val)
c.2962T>G (p.Phe988Val)
n.4230T>G
3g.47000154T>ACA352516819NBEAL2c.4055T>A (p.Phe1352Tyr)
c.3953T>A (p.Phe1318Tyr)
n.392T>A
c.1960-42T>A
c.527T>A (p.Phe176Tyr)
c.3974T>A (p.Phe1325Tyr)
c.4034T>A (p.Phe1345Tyr)
c.3686T>A (p.Phe1229Tyr)
c.3515T>A (p.Phe1172Tyr)
c.3401T>A (p.Phe1134Tyr)
c.2963T>A (p.Phe988Tyr)
n.4231T>A
3g.47000154T>CCA352516820NBEAL2c.4055T>C (p.Phe1352Ser)
c.3953T>C (p.Phe1318Ser)
n.392T>C
c.1960-42T>C
c.527T>C (p.Phe176Ser)
c.3974T>C (p.Phe1325Ser)
c.4034T>C (p.Phe1345Ser)
c.3686T>C (p.Phe1229Ser)
c.3515T>C (p.Phe1172Ser)
c.3401T>C (p.Phe1134Ser)
c.2963T>C (p.Phe988Ser)
n.4231T>C
3g.47000154T>GCA352516821NBEAL2c.4055T>G (p.Phe1352Cys)
c.3953T>G (p.Phe1318Cys)
n.392T>G
c.1960-42T>G
c.527T>G (p.Phe176Cys)
c.3974T>G (p.Phe1325Cys)
c.4034T>G (p.Phe1345Cys)
c.3686T>G (p.Phe1229Cys)
c.3515T>G (p.Phe1172Cys)
c.3401T>G (p.Phe1134Cys)
c.2963T>G (p.Phe988Cys)
n.4231T>G
3g.47000155C>ACA352516823NBEAL2c.4056C>A (p.Phe1352Leu)
c.3954C>A (p.Phe1318Leu)
n.393C>A
c.1960-41C>A
c.528C>A (p.Phe176Leu)
c.3975C>A (p.Phe1325Leu)
c.4035C>A (p.Phe1345Leu)
c.3687C>A (p.Phe1229Leu)
c.3516C>A (p.Phe1172Leu)
c.3402C>A (p.Phe1134Leu)
c.2964C>A (p.Phe988Leu)
n.4232C>A
3g.47000155C=CA1362363045NBEAL2c.4056C= (p.Phe1352=)
c.3954C= (p.Phe1318=)
n.393C=
c.1960-41C=
c.528C= (p.Phe176=)
c.3975C= (p.Phe1325=)
c.4035C= (p.Phe1345=)
c.3687C= (p.Phe1229=)
c.3516C= (p.Phe1172=)
c.3402C= (p.Phe1134=)
c.2964C= (p.Phe988=)
n.4232C=
3g.47000155C>GCA352516822NBEAL2c.4056C>G (p.Phe1352Leu)
c.3954C>G (p.Phe1318Leu)
n.393C>G
c.1960-41C>G
c.528C>G (p.Phe176Leu)
c.3975C>G (p.Phe1325Leu)
c.4035C>G (p.Phe1345Leu)
c.3687C>G (p.Phe1229Leu)
c.3516C>G (p.Phe1172Leu)
c.3402C>G (p.Phe1134Leu)
c.2964C>G (p.Phe988Leu)
n.4232C>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.47000155C>TCA433598385NBEAL2c.4056C>T (p.Phe1352=)
c.3954C>T (p.Phe1318=)
n.393C>T
c.1960-41C>T
c.528C>T (p.Phe176=)
c.3975C>T (p.Phe1325=)
c.4035C>T (p.Phe1345=)
c.3687C>T (p.Phe1229=)
c.3516C>T (p.Phe1172=)
c.3402C>T (p.Phe1134=)
c.2964C>T (p.Phe988=)
n.4232C>T
 COSMIC
3g.47000156T>ACA352516824NBEAL2c.4057T>A (p.Cys1353Ser)
c.3955T>A (p.Cys1319Ser)
n.394T>A
c.1960-40T>A
c.529T>A (p.Cys177Ser)
c.3976T>A (p.Cys1326Ser)
c.4036T>A (p.Cys1346Ser)
c.3688T>A (p.Cys1230Ser)
c.3517T>A (p.Cys1173Ser)
c.3403T>A (p.Cys1135Ser)
c.2965T>A (p.Cys989Ser)
n.4233T>A
3g.47000156T>CCA352516825NBEAL2c.4057T>C (p.Cys1353Arg)
c.3955T>C (p.Cys1319Arg)
n.394T>C
c.1960-40T>C
c.529T>C (p.Cys177Arg)
c.3976T>C (p.Cys1326Arg)
c.4036T>C (p.Cys1346Arg)
c.3688T>C (p.Cys1230Arg)
c.3517T>C (p.Cys1173Arg)
c.3403T>C (p.Cys1135Arg)
c.2965T>C (p.Cys989Arg)
n.4233T>C
3g.47000156T>GCA352516826NBEAL2c.4057T>G (p.Cys1353Gly)
c.3955T>G (p.Cys1319Gly)
n.394T>G
c.1960-40T>G
c.529T>G (p.Cys177Gly)
c.3976T>G (p.Cys1326Gly)
c.4036T>G (p.Cys1346Gly)
c.3688T>G (p.Cys1230Gly)
c.3517T>G (p.Cys1173Gly)
c.3403T>G (p.Cys1135Gly)
c.2965T>G (p.Cys989Gly)
n.4233T>G
3g.47000157G>ACA352516827NBEAL2c.4058G>A (p.Cys1353Tyr)
c.3956G>A (p.Cys1319Tyr)
n.395G>A
c.1960-39G>A
c.530G>A (p.Cys177Tyr)
c.3977G>A (p.Cys1326Tyr)
c.4037G>A (p.Cys1346Tyr)
c.3689G>A (p.Cys1230Tyr)
c.3518G>A (p.Cys1173Tyr)
c.3404G>A (p.Cys1135Tyr)
c.2966G>A (p.Cys989Tyr)
n.4234G>A
3g.47000157G>CCA352516828NBEAL2c.4058G>C (p.Cys1353Ser)
c.3956G>C (p.Cys1319Ser)
n.395G>C
c.1960-39G>C
c.530G>C (p.Cys177Ser)
c.3977G>C (p.Cys1326Ser)
c.4037G>C (p.Cys1346Ser)
c.3689G>C (p.Cys1230Ser)
c.3518G>C (p.Cys1173Ser)
c.3404G>C (p.Cys1135Ser)
c.2966G>C (p.Cys989Ser)
n.4234G>C
3g.47000157G>TCA352516829NBEAL2c.4058G>T (p.Cys1353Phe)
c.3956G>T (p.Cys1319Phe)
n.395G>T
c.1960-39G>T
c.530G>T (p.Cys177Phe)
c.3977G>T (p.Cys1326Phe)
c.4037G>T (p.Cys1346Phe)
c.3689G>T (p.Cys1230Phe)
c.3518G>T (p.Cys1173Phe)
c.3404G>T (p.Cys1135Phe)
c.2966G>T (p.Cys989Phe)
n.4234G>T
3g.47000158C>ACA352516831NBEAL2c.4059C>A (p.Cys1353Ter)
c.3957C>A (p.Cys1319Ter)
n.396C>A
c.1960-38C>A
c.531C>A (p.Cys177Ter)
c.3978C>A (p.Cys1326Ter)
c.4038C>A (p.Cys1346Ter)
c.3690C>A (p.Cys1230Ter)
c.3519C>A (p.Cys1173Ter)
c.3405C>A (p.Cys1135Ter)
c.2967C>A (p.Cys989Ter)
n.4235C>A
3g.47000158C>GCA352516830NBEAL2c.4059C>G (p.Cys1353Trp)
c.3957C>G (p.Cys1319Trp)
n.396C>G
c.1960-38C>G
c.531C>G (p.Cys177Trp)
c.3978C>G (p.Cys1326Trp)
c.4038C>G (p.Cys1346Trp)
c.3690C>G (p.Cys1230Trp)
c.3519C>G (p.Cys1173Trp)
c.3405C>G (p.Cys1135Trp)
c.2967C>G (p.Cys989Trp)
n.4235C>G
3g.47000158C>TCA433598389NBEAL2c.4059C>T (p.Cys1353=)
c.3957C>T (p.Cys1319=)
n.396C>T
c.1960-38C>T
c.531C>T (p.Cys177=)
c.3978C>T (p.Cys1326=)
c.4038C>T (p.Cys1346=)
c.3690C>T (p.Cys1230=)
c.3519C>T (p.Cys1173=)
c.3405C>T (p.Cys1135=)
c.2967C>T (p.Cys989=)
n.4235C>T
3g.47000159A>CCA352516832NBEAL2c.4060A>C (p.Thr1354Pro)
c.3958A>C (p.Thr1320Pro)
n.397A>C
c.1960-37A>C
c.532A>C (p.Thr178Pro)
c.3979A>C (p.Thr1327Pro)
c.4039A>C (p.Thr1347Pro)
c.3691A>C (p.Thr1231Pro)
c.3520A>C (p.Thr1174Pro)
c.3406A>C (p.Thr1136Pro)
c.2968A>C (p.Thr990Pro)
n.4236A>C
3g.47000159A>GCA352516833NBEAL2c.4060A>G (p.Thr1354Ala)
c.3958A>G (p.Thr1320Ala)
n.397A>G
c.1960-37A>G
c.532A>G (p.Thr178Ala)
c.3979A>G (p.Thr1327Ala)
c.4039A>G (p.Thr1347Ala)
c.3691A>G (p.Thr1231Ala)
c.3520A>G (p.Thr1174Ala)
c.3406A>G (p.Thr1136Ala)
c.2968A>G (p.Thr990Ala)
n.4236A>G
3g.47000159A>TCA352516834NBEAL2c.4060A>T (p.Thr1354Ser)
c.3958A>T (p.Thr1320Ser)
n.397A>T
c.1960-37A>T
c.532A>T (p.Thr178Ser)
c.3979A>T (p.Thr1327Ser)
c.4039A>T (p.Thr1347Ser)
c.3691A>T (p.Thr1231Ser)
c.3520A>T (p.Thr1174Ser)
c.3406A>T (p.Thr1136Ser)
c.2968A>T (p.Thr990Ser)
n.4236A>T
3g.47000160C>ACA352516835NBEAL2c.4061C>A (p.Thr1354Lys)
c.3959C>A (p.Thr1320Lys)
n.398C>A
c.1960-36C>A
c.533C>A (p.Thr178Lys)
c.3980C>A (p.Thr1327Lys)
c.4040C>A (p.Thr1347Lys)
c.3692C>A (p.Thr1231Lys)
c.3521C>A (p.Thr1174Lys)
c.3407C>A (p.Thr1136Lys)
c.2969C>A (p.Thr990Lys)
n.4237C>A
3g.47000160C=CA1362363046NBEAL2c.4061C= (p.Thr1354=)
c.3959C= (p.Thr1320=)
n.398C=
c.1960-36C=
c.533C= (p.Thr178=)
c.3980C= (p.Thr1327=)
c.4040C= (p.Thr1347=)
c.3692C= (p.Thr1231=)
c.3521C= (p.Thr1174=)
c.3407C= (p.Thr1136=)
c.2969C= (p.Thr990=)
n.4237C=
3g.47000160C>GCA352516836NBEAL2c.4061C>G (p.Thr1354Arg)
c.3959C>G (p.Thr1320Arg)
n.398C>G
c.1960-36C>G
c.533C>G (p.Thr178Arg)
c.3980C>G (p.Thr1327Arg)
c.4040C>G (p.Thr1347Arg)
c.3692C>G (p.Thr1231Arg)
c.3521C>G (p.Thr1174Arg)
c.3407C>G (p.Thr1136Arg)
c.2969C>G (p.Thr990Arg)
n.4237C>G
3g.47000160C>TCA2361137NBEAL2c.4061C>T (p.Thr1354Met)
c.3959C>T (p.Thr1320Met)
n.398C>T
c.1960-36C>T
c.533C>T (p.Thr178Met)
c.3980C>T (p.Thr1327Met)
c.4040C>T (p.Thr1347Met)
c.3692C>T (p.Thr1231Met)
c.3521C>T (p.Thr1174Met)
c.3407C>T (p.Thr1136Met)
c.2969C>T (p.Thr990Met)
n.4237C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.47000161G>ACA73817774NBEAL2c.4062G>A (p.Thr1354=)
c.3960G>A (p.Thr1320=)
n.399G>A
c.1960-35G>A
c.534G>A (p.Thr178=)
c.3981G>A (p.Thr1327=)
c.4041G>A (p.Thr1347=)
c.3693G>A (p.Thr1231=)
c.3522G>A (p.Thr1174=)
c.3408G>A (p.Thr1136=)
c.2970G>A (p.Thr990=)
n.4238G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
3g.47000161G>CCA433598394NBEAL2c.4062G>C (p.Thr1354=)
c.3960G>C (p.Thr1320=)
n.399G>C
c.1960-35G>C
c.534G>C (p.Thr178=)
c.3981G>C (p.Thr1327=)
c.4041G>C (p.Thr1347=)
c.3693G>C (p.Thr1231=)
c.3522G>C (p.Thr1174=)
c.3408G>C (p.Thr1136=)
c.2970G>C (p.Thr990=)
n.4238G>C
3g.47000161G=CA1362363047NBEAL2c.4062G= (p.Thr1354=)
c.3960G= (p.Thr1320=)
n.399G=
c.1960-35G=
c.534G= (p.Thr178=)
c.3981G= (p.Thr1327=)
c.4041G= (p.Thr1347=)
c.3693G= (p.Thr1231=)
c.3522G= (p.Thr1174=)
c.3408G= (p.Thr1136=)
c.2970G= (p.Thr990=)
n.4238G=
3g.47000161G>TCA2361138NBEAL2c.4062G>T (p.Thr1354=)
c.3960G>T (p.Thr1320=)
n.399G>T
c.1960-35G>T
c.534G>T (p.Thr178=)
c.3981G>T (p.Thr1327=)
c.4041G>T (p.Thr1347=)
c.3693G>T (p.Thr1231=)
c.3522G>T (p.Thr1174=)
c.3408G>T (p.Thr1136=)
c.2970G>T (p.Thr990=)
n.4238G>T
 dbSNP ExAC gnomAD v3 gnomAD v4
3g.47000162C>ACA352516837NBEAL2c.4063C>A (p.Pro1355Thr)
c.3961C>A (p.Pro1321Thr)
n.400C>A
c.1960-34C>A
c.535C>A (p.Pro179Thr)
c.3982C>A (p.Pro1328Thr)
c.4042C>A (p.Pro1348Thr)
c.3694C>A (p.Pro1232Thr)
c.3523C>A (p.Pro1175Thr)
c.3409C>A (p.Pro1137Thr)
c.2971C>A (p.Pro991Thr)
n.4239C>A
3g.47000162C=CA1362363048NBEAL2c.4063C= (p.Pro1355=)
c.3961C= (p.Pro1321=)
n.400C=
c.1960-34C=
c.535C= (p.Pro179=)
c.3982C= (p.Pro1328=)
c.4042C= (p.Pro1348=)
c.3694C= (p.Pro1232=)
c.3523C= (p.Pro1175=)
c.3409C= (p.Pro1137=)
c.2971C= (p.Pro991=)
n.4239C=
3g.47000162C>GCA352516838NBEAL2c.4063C>G (p.Pro1355Ala)
c.3961C>G (p.Pro1321Ala)
n.400C>G
c.1960-34C>G
c.535C>G (p.Pro179Ala)
c.3982C>G (p.Pro1328Ala)
c.4042C>G (p.Pro1348Ala)
c.3694C>G (p.Pro1232Ala)
c.3523C>G (p.Pro1175Ala)
c.3409C>G (p.Pro1137Ala)
c.2971C>G (p.Pro991Ala)
n.4239C>G
3g.47000162C>TCA73817775NBEAL2c.4063C>T (p.Pro1355Ser)
c.3961C>T (p.Pro1321Ser)
n.400C>T
c.1960-34C>T
c.535C>T (p.Pro179Ser)
c.3982C>T (p.Pro1328Ser)
c.4042C>T (p.Pro1348Ser)
c.3694C>T (p.Pro1232Ser)
c.3523C>T (p.Pro1175Ser)
c.3409C>T (p.Pro1137Ser)
c.2971C>T (p.Pro991Ser)
n.4239C>T
 dbSNP gnomAD v3 gnomAD v4
3g.47000163C>ACA352516839NBEAL2c.4064C>A (p.Pro1355His)
c.3962C>A (p.Pro1321His)
n.401C>A
c.1960-33C>A
c.536C>A (p.Pro179His)
c.3983C>A (p.Pro1328His)
c.4043C>A (p.Pro1348His)
c.3695C>A (p.Pro1232His)
c.3524C>A (p.Pro1175His)
c.3410C>A (p.Pro1137His)
c.2972C>A (p.Pro991His)
n.4240C>A
3g.47000163C>GCA352516841NBEAL2c.4064C>G (p.Pro1355Arg)
c.3962C>G (p.Pro1321Arg)
n.401C>G
c.1960-33C>G
c.536C>G (p.Pro179Arg)
c.3983C>G (p.Pro1328Arg)
c.4043C>G (p.Pro1348Arg)
c.3695C>G (p.Pro1232Arg)
c.3524C>G (p.Pro1175Arg)
c.3410C>G (p.Pro1137Arg)
c.2972C>G (p.Pro991Arg)
n.4240C>G
3g.47000163C>TCA352516840NBEAL2c.4064C>T (p.Pro1355Leu)
c.3962C>T (p.Pro1321Leu)
n.401C>T
c.1960-33C>T
c.536C>T (p.Pro179Leu)
c.3983C>T (p.Pro1328Leu)
c.4043C>T (p.Pro1348Leu)
c.3695C>T (p.Pro1232Leu)
c.3524C>T (p.Pro1175Leu)
c.3410C>T (p.Pro1137Leu)
c.2972C>T (p.Pro991Leu)
n.4240C>T
3g.47000164C>ACA433598399NBEAL2c.4065C>A (p.Pro1355=)
c.3963C>A (p.Pro1321=)
n.402C>A
c.1960-32C>A
c.537C>A (p.Pro179=)
c.3984C>A (p.Pro1328=)
c.4044C>A (p.Pro1348=)
c.3696C>A (p.Pro1232=)
c.3525C>A (p.Pro1175=)
c.3411C>A (p.Pro1137=)
c.2973C>A (p.Pro991=)
n.4241C>A
 gnomAD v4
3g.47000164C=CA1362363049NBEAL2c.4065C= (p.Pro1355=)
c.3963C= (p.Pro1321=)
n.402C=
c.1960-32C=
c.537C= (p.Pro179=)
c.3984C= (p.Pro1328=)
c.4044C= (p.Pro1348=)
c.3696C= (p.Pro1232=)
c.3525C= (p.Pro1175=)
c.3411C= (p.Pro1137=)
c.2973C= (p.Pro991=)
n.4241C=
3g.47000164C>GCA433598400NBEAL2c.4065C>G (p.Pro1355=)
c.3963C>G (p.Pro1321=)
n.402C>G
c.1960-32C>G
c.537C>G (p.Pro179=)
c.3984C>G (p.Pro1328=)
c.4044C>G (p.Pro1348=)
c.3696C>G (p.Pro1232=)
c.3525C>G (p.Pro1175=)
c.3411C>G (p.Pro1137=)
c.2973C>G (p.Pro991=)
n.4241C>G
3g.47000164C>TCA433598401NBEAL2c.4065C>T (p.Pro1355=)
c.3963C>T (p.Pro1321=)
n.402C>T
c.1960-32C>T
c.537C>T (p.Pro179=)
c.3984C>T (p.Pro1328=)
c.4044C>T (p.Pro1348=)
c.3696C>T (p.Pro1232=)
c.3525C>T (p.Pro1175=)
c.3411C>T (p.Pro1137=)
c.2973C>T (p.Pro991=)
n.4241C>T
 dbSNP
3g.47000165T>ACA352516842NBEAL2c.4066T>A (p.Phe1356Ile)
c.3964T>A (p.Phe1322Ile)
n.403T>A
c.1960-31T>A
c.538T>A (p.Phe180Ile)
c.3985T>A (p.Phe1329Ile)
c.4045T>A (p.Phe1349Ile)
c.3697T>A (p.Phe1233Ile)
c.3526T>A (p.Phe1176Ile)
c.3412T>A (p.Phe1138Ile)
c.2974T>A (p.Phe992Ile)
n.4242T>A
3g.47000165T>CCA352516843NBEAL2c.4066T>C (p.Phe1356Leu)
c.3964T>C (p.Phe1322Leu)
n.403T>C
c.1960-31T>C
c.538T>C (p.Phe180Leu)
c.3985T>C (p.Phe1329Leu)
c.4045T>C (p.Phe1349Leu)
c.3697T>C (p.Phe1233Leu)
c.3526T>C (p.Phe1176Leu)
c.3412T>C (p.Phe1138Leu)
c.2974T>C (p.Phe992Leu)
n.4242T>C
3g.47000165T>GCA352516844NBEAL2c.4066T>G (p.Phe1356Val)
c.3964T>G (p.Phe1322Val)
n.403T>G
c.1960-31T>G
c.538T>G (p.Phe180Val)
c.3985T>G (p.Phe1329Val)
c.4045T>G (p.Phe1349Val)
c.3697T>G (p.Phe1233Val)
c.3526T>G (p.Phe1176Val)
c.3412T>G (p.Phe1138Val)
c.2974T>G (p.Phe992Val)
n.4242T>G
3g.47000166T>ACA352516845NBEAL2c.4067T>A (p.Phe1356Tyr)
c.3965T>A (p.Phe1322Tyr)
n.404T>A
c.1960-30T>A
c.539T>A (p.Phe180Tyr)
c.3986T>A (p.Phe1329Tyr)
c.4046T>A (p.Phe1349Tyr)
c.3698T>A (p.Phe1233Tyr)
c.3527T>A (p.Phe1176Tyr)
c.3413T>A (p.Phe1138Tyr)
c.2975T>A (p.Phe992Tyr)
n.4243T>A
3g.47000166T>CCA352516846NBEAL2c.4067T>C (p.Phe1356Ser)
c.3965T>C (p.Phe1322Ser)
n.404T>C
c.1960-30T>C
c.539T>C (p.Phe180Ser)
c.3986T>C (p.Phe1329Ser)
c.4046T>C (p.Phe1349Ser)
c.3698T>C (p.Phe1233Ser)
c.3527T>C (p.Phe1176Ser)
c.3413T>C (p.Phe1138Ser)
c.2975T>C (p.Phe992Ser)
n.4243T>C
 gnomAD v4
3g.47000166T>GCA352516847NBEAL2c.4067T>G (p.Phe1356Cys)
c.3965T>G (p.Phe1322Cys)
n.404T>G
c.1960-30T>G
c.539T>G (p.Phe180Cys)
c.3986T>G (p.Phe1329Cys)
c.4046T>G (p.Phe1349Cys)
c.3698T>G (p.Phe1233Cys)
c.3527T>G (p.Phe1176Cys)
c.3413T>G (p.Phe1138Cys)
c.2975T>G (p.Phe992Cys)
n.4243T>G
3g.47000167T>ACA352516848NBEAL2c.4068T>A (p.Phe1356Leu)
c.3966T>A (p.Phe1322Leu)
n.405T>A
c.1960-29T>A
c.540T>A (p.Phe180Leu)
c.3987T>A (p.Phe1329Leu)
c.4047T>A (p.Phe1349Leu)
c.3699T>A (p.Phe1233Leu)
c.3528T>A (p.Phe1176Leu)
c.3414T>A (p.Phe1138Leu)
c.2976T>A (p.Phe992Leu)
n.4244T>A
3g.47000167T>CCA433598403NBEAL2c.4068T>C (p.Phe1356=)
c.3966T>C (p.Phe1322=)
n.405T>C
c.1960-29T>C
c.540T>C (p.Phe180=)
c.3987T>C (p.Phe1329=)
c.4047T>C (p.Phe1349=)
c.3699T>C (p.Phe1233=)
c.3528T>C (p.Phe1176=)
c.3414T>C (p.Phe1138=)
c.2976T>C (p.Phe992=)
n.4244T>C
 dbSNP
3g.47000167T>GCA352516849NBEAL2c.4068T>G (p.Phe1356Leu)
c.3966T>G (p.Phe1322Leu)
n.405T>G
c.1960-29T>G
c.540T>G (p.Phe180Leu)
c.3987T>G (p.Phe1329Leu)
c.4047T>G (p.Phe1349Leu)
c.3699T>G (p.Phe1233Leu)
c.3528T>G (p.Phe1176Leu)
c.3414T>G (p.Phe1138Leu)
c.2976T>G (p.Phe992Leu)
n.4244T>G
 gnomAD v4
3g.47000167T=CA1362363050NBEAL2c.4068T= (p.Phe1356=)
c.3966T= (p.Phe1322=)
n.405T=
c.1960-29T=
c.540T= (p.Phe180=)
c.3987T= (p.Phe1329=)
c.4047T= (p.Phe1349=)
c.3699T= (p.Phe1233=)
c.3528T= (p.Phe1176=)
c.3414T= (p.Phe1138=)
c.2976T= (p.Phe992=)
n.4244T=
3g.47000168G>ACA352516850NBEAL2c.4069G>A (p.Asp1357Asn)
c.3967G>A (p.Asp1323Asn)
n.406G>A
c.1960-28G>A
c.541G>A (p.Asp181Asn)
c.3988G>A (p.Asp1330Asn)
c.4048G>A (p.Asp1350Asn)
c.3700G>A (p.Asp1234Asn)
c.3529G>A (p.Asp1177Asn)
c.3415G>A (p.Asp1139Asn)
c.2977G>A (p.Asp993Asn)
n.4245G>A
3g.47000168G>CCA352516851NBEAL2c.4069G>C (p.Asp1357His)
c.3967G>C (p.Asp1323His)
n.406G>C
c.1960-28G>C
c.541G>C (p.Asp181His)
c.3988G>C (p.Asp1330His)
c.4048G>C (p.Asp1350His)
c.3700G>C (p.Asp1234His)
c.3529G>C (p.Asp1177His)
c.3415G>C (p.Asp1139His)
c.2977G>C (p.Asp993His)
n.4245G>C
3g.47000168G>TCA352516852NBEAL2c.4069G>T (p.Asp1357Tyr)
c.3967G>T (p.Asp1323Tyr)
n.406G>T
c.1960-28G>T
c.541G>T (p.Asp181Tyr)
c.3988G>T (p.Asp1330Tyr)
c.4048G>T (p.Asp1350Tyr)
c.3700G>T (p.Asp1234Tyr)
c.3529G>T (p.Asp1177Tyr)
c.3415G>T (p.Asp1139Tyr)
c.2977G>T (p.Asp993Tyr)
n.4245G>T
3g.47000169A>CCA352516853NBEAL2c.4070A>C (p.Asp1357Ala)
c.3968A>C (p.Asp1323Ala)
n.407A>C
c.1960-27A>C
c.542A>C (p.Asp181Ala)
c.3989A>C (p.Asp1330Ala)
c.4049A>C (p.Asp1350Ala)
c.3701A>C (p.Asp1234Ala)
c.3530A>C (p.Asp1177Ala)
c.3416A>C (p.Asp1139Ala)
c.2978A>C (p.Asp993Ala)
n.4246A>C
3g.47000169A>GCA352516854NBEAL2c.4070A>G (p.Asp1357Gly)
c.3968A>G (p.Asp1323Gly)
n.407A>G
c.1960-27A>G
c.542A>G (p.Asp181Gly)
c.3989A>G (p.Asp1330Gly)
c.4049A>G (p.Asp1350Gly)
c.3701A>G (p.Asp1234Gly)
c.3530A>G (p.Asp1177Gly)
c.3416A>G (p.Asp1139Gly)
c.2978A>G (p.Asp993Gly)
n.4246A>G
3g.47000169A>TCA352516855NBEAL2c.4070A>T (p.Asp1357Val)
c.3968A>T (p.Asp1323Val)
n.407A>T
c.1960-27A>T
c.542A>T (p.Asp181Val)
c.3989A>T (p.Asp1330Val)
c.4049A>T (p.Asp1350Val)
c.3701A>T (p.Asp1234Val)
c.3530A>T (p.Asp1177Val)
c.3416A>T (p.Asp1139Val)
c.2978A>T (p.Asp993Val)
n.4246A>T
3g.47000170C>ACA352516857NBEAL2c.4071C>A (p.Asp1357Glu)
c.3969C>A (p.Asp1323Glu)
n.408C>A
c.1960-26C>A
c.543C>A (p.Asp181Glu)
c.3990C>A (p.Asp1330Glu)
c.4050C>A (p.Asp1350Glu)
c.3702C>A (p.Asp1234Glu)
c.3531C>A (p.Asp1177Glu)
c.3417C>A (p.Asp1139Glu)
c.2979C>A (p.Asp993Glu)
n.4247C>A
3g.47000170C=CA1362363051NBEAL2c.4071C= (p.Asp1357=)
c.3969C= (p.Asp1323=)
n.408C=
c.1960-26C=
c.543C= (p.Asp181=)
c.3990C= (p.Asp1330=)
c.4050C= (p.Asp1350=)
c.3702C= (p.Asp1234=)
c.3531C= (p.Asp1177=)
c.3417C= (p.Asp1139=)
c.2979C= (p.Asp993=)
n.4247C=
3g.47000170C>GCA352516856NBEAL2c.4071C>G (p.Asp1357Glu)
c.3969C>G (p.Asp1323Glu)
n.408C>G
c.1960-26C>G
c.543C>G (p.Asp181Glu)
c.3990C>G (p.Asp1330Glu)
c.4050C>G (p.Asp1350Glu)
c.3702C>G (p.Asp1234Glu)
c.3531C>G (p.Asp1177Glu)
c.3417C>G (p.Asp1139Glu)
c.2979C>G (p.Asp993Glu)
n.4247C>G
3g.47000170C>TCA433598404NBEAL2c.4071C>T (p.Asp1357=)
c.3969C>T (p.Asp1323=)
n.408C>T
c.1960-26C>T
c.543C>T (p.Asp181=)
c.3990C>T (p.Asp1330=)
c.4050C>T (p.Asp1350=)
c.3702C>T (p.Asp1234=)
c.3531C>T (p.Asp1177=)
c.3417C>T (p.Asp1139=)
c.2979C>T (p.Asp993=)
n.4247C>T
 dbSNP
3g.47000171C>ACA352516858NBEAL2c.4072C>A (p.Leu1358Met)
c.3970C>A (p.Leu1324Met)
n.409C>A
c.1960-25C>A
c.544C>A (p.Leu182Met)
c.3991C>A (p.Leu1331Met)
c.4051C>A (p.Leu1351Met)
c.3703C>A (p.Leu1235Met)
c.3532C>A (p.Leu1178Met)
c.3418C>A (p.Leu1140Met)
c.2980C>A (p.Leu994Met)
n.4248C>A
3g.47000171C=CA1362363052NBEAL2c.4072C= (p.Leu1358=)
c.3970C= (p.Leu1324=)
n.409C=
c.1960-25C=
c.544C= (p.Leu182=)
c.3991C= (p.Leu1331=)
c.4051C= (p.Leu1351=)
c.3703C= (p.Leu1235=)
c.3532C= (p.Leu1178=)
c.3418C= (p.Leu1140=)
c.2980C= (p.Leu994=)
n.4248C=
3g.47000171C>GCA352516859NBEAL2c.4072C>G (p.Leu1358Val)
c.3970C>G (p.Leu1324Val)
n.409C>G
c.1960-25C>G
c.544C>G (p.Leu182Val)
c.3991C>G (p.Leu1331Val)
c.4051C>G (p.Leu1351Val)
c.3703C>G (p.Leu1235Val)
c.3532C>G (p.Leu1178Val)
c.3418C>G (p.Leu1140Val)
c.2980C>G (p.Leu994Val)
n.4248C>G
3g.47000171C>TCA433598405NBEAL2c.4072C>T (p.Leu1358=)
c.3970C>T (p.Leu1324=)
n.409C>T
c.1960-25C>T
c.544C>T (p.Leu182=)
c.3991C>T (p.Leu1331=)
c.4051C>T (p.Leu1351=)
c.3703C>T (p.Leu1235=)
c.3532C>T (p.Leu1178=)
c.3418C>T (p.Leu1140=)
c.2980C>T (p.Leu994=)
n.4248C>T
 dbSNP gnomAD v3 gnomAD v4
3g.47000172T>ACA352516860NBEAL2c.4073T>A (p.Leu1358Gln)
c.3971T>A (p.Leu1324Gln)
n.410T>A
c.1960-24T>A
c.545T>A (p.Leu182Gln)
c.3992T>A (p.Leu1331Gln)
c.4052T>A (p.Leu1351Gln)
c.3704T>A (p.Leu1235Gln)
c.3533T>A (p.Leu1178Gln)
c.3419T>A (p.Leu1140Gln)
c.2981T>A (p.Leu994Gln)
n.4249T>A
3g.47000172T>CCA352516861NBEAL2c.4073T>C (p.Leu1358Pro)
c.3971T>C (p.Leu1324Pro)
n.410T>C
c.1960-24T>C
c.545T>C (p.Leu182Pro)
c.3992T>C (p.Leu1331Pro)
c.4052T>C (p.Leu1351Pro)
c.3704T>C (p.Leu1235Pro)
c.3533T>C (p.Leu1178Pro)
c.3419T>C (p.Leu1140Pro)
c.2981T>C (p.Leu994Pro)
n.4249T>C
 ClinVar gnomAD v4
3g.47000172T>GCA352516862NBEAL2c.4073T>G (p.Leu1358Arg)
c.3971T>G (p.Leu1324Arg)
n.410T>G
c.1960-24T>G
c.545T>G (p.Leu182Arg)
c.3992T>G (p.Leu1331Arg)
c.4052T>G (p.Leu1351Arg)
c.3704T>G (p.Leu1235Arg)
c.3533T>G (p.Leu1178Arg)
c.3419T>G (p.Leu1140Arg)
c.2981T>G (p.Leu994Arg)
n.4249T>G
3g.47000173G>ACA433598407NBEAL2c.4074G>A (p.Leu1358=)
c.3972G>A (p.Leu1324=)
n.411G>A
c.1960-23G>A
c.546G>A (p.Leu182=)
c.3993G>A (p.Leu1331=)
c.4053G>A (p.Leu1351=)
c.3705G>A (p.Leu1235=)
c.3534G>A (p.Leu1178=)
c.3420G>A (p.Leu1140=)
c.2982G>A (p.Leu994=)
n.4250G>A
3g.47000173G>CCA433598409NBEAL2c.4074G>C (p.Leu1358=)
c.3972G>C (p.Leu1324=)
n.411G>C
c.1960-23G>C
c.546G>C (p.Leu182=)
c.3993G>C (p.Leu1331=)
c.4053G>C (p.Leu1351=)
c.3705G>C (p.Leu1235=)
c.3534G>C (p.Leu1178=)
c.3420G>C (p.Leu1140=)
c.2982G>C (p.Leu994=)
n.4250G>C
3g.47000173G>TCA433598410NBEAL2c.4074G>T (p.Leu1358=)
c.3972G>T (p.Leu1324=)
n.411G>T
c.1960-23G>T
c.546G>T (p.Leu182=)
c.3993G>T (p.Leu1331=)
c.4053G>T (p.Leu1351=)
c.3705G>T (p.Leu1235=)
c.3534G>T (p.Leu1178=)
c.3420G>T (p.Leu1140=)
c.2982G>T (p.Leu994=)
n.4250G>T
3g.47000174G>ACA352516863NBEAL2c.4075G>A (p.Gly1359Ser)
c.3973G>A (p.Gly1325Ser)
n.412G>A
c.1960-22G>A
c.547G>A (p.Gly183Ser)
c.3994G>A (p.Gly1332Ser)
c.4054G>A (p.Gly1352Ser)
c.3706G>A (p.Gly1236Ser)
c.3535G>A (p.Gly1179Ser)
c.3421G>A (p.Gly1141Ser)
c.2983G>A (p.Gly995Ser)
n.4251G>A
 gnomAD v4
3g.47000174G>CCA352516864NBEAL2c.4075G>C (p.Gly1359Arg)
c.3973G>C (p.Gly1325Arg)
n.412G>C
c.1960-22G>C
c.547G>C (p.Gly183Arg)
c.3994G>C (p.Gly1332Arg)
c.4054G>C (p.Gly1352Arg)
c.3706G>C (p.Gly1236Arg)
c.3535G>C (p.Gly1179Arg)
c.3421G>C (p.Gly1141Arg)
c.2983G>C (p.Gly995Arg)
n.4251G>C
 dbSNP gnomAD v2 gnomAD v4
3g.47000174G=CA1362363053NBEAL2c.4075G= (p.Gly1359=)
c.3973G= (p.Gly1325=)
n.412G=
c.1960-22G=
c.547G= (p.Gly183=)
c.3994G= (p.Gly1332=)
c.4054G= (p.Gly1352=)
c.3706G= (p.Gly1236=)
c.3535G= (p.Gly1179=)
c.3421G= (p.Gly1141=)
c.2983G= (p.Gly995=)
n.4251G=
3g.47000174G>TCA352516865NBEAL2c.4075G>T (p.Gly1359Cys)
c.3973G>T (p.Gly1325Cys)
n.412G>T
c.1960-22G>T
c.547G>T (p.Gly183Cys)
c.3994G>T (p.Gly1332Cys)
c.4054G>T (p.Gly1352Cys)
c.3706G>T (p.Gly1236Cys)
c.3535G>T (p.Gly1179Cys)
c.3421G>T (p.Gly1141Cys)
c.2983G>T (p.Gly995Cys)
n.4251G>T
3g.47000175G>ACA352516866NBEAL2c.4076G>A (p.Gly1359Asp)
c.3974G>A (p.Gly1325Asp)
n.413G>A
c.1960-21G>A
c.548G>A (p.Gly183Asp)
c.3995G>A (p.Gly1332Asp)
c.4055G>A (p.Gly1352Asp)
c.3707G>A (p.Gly1236Asp)
c.3536G>A (p.Gly1179Asp)
c.3422G>A (p.Gly1141Asp)
c.2984G>A (p.Gly995Asp)
n.4252G>A
 gnomAD v4
3g.47000175G>CCA352516867NBEAL2c.4076G>C (p.Gly1359Ala)
c.3974G>C (p.Gly1325Ala)
n.413G>C
c.1960-21G>C
c.548G>C (p.Gly183Ala)
c.3995G>C (p.Gly1332Ala)
c.4055G>C (p.Gly1352Ala)
c.3707G>C (p.Gly1236Ala)
c.3536G>C (p.Gly1179Ala)
c.3422G>C (p.Gly1141Ala)
c.2984G>C (p.Gly995Ala)
n.4252G>C
3g.47000175G>TCA352516868NBEAL2c.4076G>T (p.Gly1359Val)
c.3974G>T (p.Gly1325Val)
n.413G>T
c.1960-21G>T
c.548G>T (p.Gly183Val)
c.3995G>T (p.Gly1332Val)
c.4055G>T (p.Gly1352Val)
c.3707G>T (p.Gly1236Val)
c.3536G>T (p.Gly1179Val)
c.3422G>T (p.Gly1141Val)
c.2984G>T (p.Gly995Val)
n.4252G>T
 gnomAD v4
3g.47000176C>ACA433598412NBEAL2c.4077C>A (p.Gly1359=)
c.3975C>A (p.Gly1325=)
n.414C>A
c.1960-20C>A
c.549C>A (p.Gly183=)
c.3996C>A (p.Gly1332=)
c.4056C>A (p.Gly1352=)
c.3708C>A (p.Gly1236=)
c.3537C>A (p.Gly1179=)
c.3423C>A (p.Gly1141=)
c.2985C>A (p.Gly995=)
n.4253C>A
3g.47000176C>GCA433598413NBEAL2c.4077C>G (p.Gly1359=)
c.3975C>G (p.Gly1325=)
n.414C>G
c.1960-20C>G
c.549C>G (p.Gly183=)
c.3996C>G (p.Gly1332=)
c.4056C>G (p.Gly1352=)
c.3708C>G (p.Gly1236=)
c.3537C>G (p.Gly1179=)
c.3423C>G (p.Gly1141=)
c.2985C>G (p.Gly995=)
n.4253C>G
3g.47000176C>TCA433598414NBEAL2c.4077C>T (p.Gly1359=)
c.3975C>T (p.Gly1325=)
n.414C>T
c.1960-20C>T
c.549C>T (p.Gly183=)
c.3996C>T (p.Gly1332=)
c.4056C>T (p.Gly1352=)
c.3708C>T (p.Gly1236=)
c.3537C>T (p.Gly1179=)
c.3423C>T (p.Gly1141=)
c.2985C>T (p.Gly995=)
n.4253C>T
 gnomAD v4
3g.47000177C>ACA352516869NBEAL2c.4078C>A (p.Leu1360Met)
c.3976C>A (p.Leu1326Met)
n.415C>A
c.1960-19C>A
c.550C>A (p.Leu184Met)
c.3997C>A (p.Leu1333Met)
c.4057C>A (p.Leu1353Met)
c.3709C>A (p.Leu1237Met)
c.3538C>A (p.Leu1180Met)
c.3424C>A (p.Leu1142Met)
c.2986C>A (p.Leu996Met)
n.4254C>A
3g.47000177C>GCA352516870NBEAL2c.4078C>G (p.Leu1360Val)
c.3976C>G (p.Leu1326Val)
n.415C>G
c.1960-19C>G
c.550C>G (p.Leu184Val)
c.3997C>G (p.Leu1333Val)
c.4057C>G (p.Leu1353Val)
c.3709C>G (p.Leu1237Val)
c.3538C>G (p.Leu1180Val)
c.3424C>G (p.Leu1142Val)
c.2986C>G (p.Leu996Val)
n.4254C>G
3g.47000177C>TCA433598415NBEAL2c.4078C>T (p.Leu1360=)
c.3976C>T (p.Leu1326=)
n.415C>T
c.1960-19C>T
c.550C>T (p.Leu184=)
c.3997C>T (p.Leu1333=)
c.4057C>T (p.Leu1353=)
c.3709C>T (p.Leu1237=)
c.3538C>T (p.Leu1180=)
c.3424C>T (p.Leu1142=)
c.2986C>T (p.Leu996=)
n.4254C>T
3g.47000178T>ACA352516871NBEAL2c.4079T>A (p.Leu1360Gln)
c.3977T>A (p.Leu1326Gln)
n.416T>A
c.1960-18T>A
c.551T>A (p.Leu184Gln)
c.3998T>A (p.Leu1333Gln)
c.4058T>A (p.Leu1353Gln)
c.3710T>A (p.Leu1237Gln)
c.3539T>A (p.Leu1180Gln)
c.3425T>A (p.Leu1142Gln)
c.2987T>A (p.Leu996Gln)
n.4255T>A
3g.47000178T>CCA352516873NBEAL2c.4079T>C (p.Leu1360Pro)
c.3977T>C (p.Leu1326Pro)
n.416T>C
c.1960-18T>C
c.551T>C (p.Leu184Pro)
c.3998T>C (p.Leu1333Pro)
c.4058T>C (p.Leu1353Pro)
c.3710T>C (p.Leu1237Pro)
c.3539T>C (p.Leu1180Pro)
c.3425T>C (p.Leu1142Pro)
c.2987T>C (p.Leu996Pro)
n.4255T>C
3g.47000178T>GCA352516872NBEAL2c.4079T>G (p.Leu1360Arg)
c.3977T>G (p.Leu1326Arg)
n.416T>G
c.1960-18T>G
c.551T>G (p.Leu184Arg)
c.3998T>G (p.Leu1333Arg)
c.4058T>G (p.Leu1353Arg)
c.3710T>G (p.Leu1237Arg)
c.3539T>G (p.Leu1180Arg)
c.3425T>G (p.Leu1142Arg)
c.2987T>G (p.Leu996Arg)
n.4255T>G
3g.47000179G>ACA433598418NBEAL2c.4080G>A (p.Leu1360=)
c.3978G>A (p.Leu1326=)
n.417G>A
c.1960-17G>A
c.552G>A (p.Leu184=)
c.3999G>A (p.Leu1333=)
c.4059G>A (p.Leu1353=)
c.3711G>A (p.Leu1237=)
c.3540G>A (p.Leu1180=)
c.3426G>A (p.Leu1142=)
c.2988G>A (p.Leu996=)
n.4256G>A
3g.47000179G>CCA433598420NBEAL2c.4080G>C (p.Leu1360=)
c.3978G>C (p.Leu1326=)
n.417G>C
c.1960-17G>C
c.552G>C (p.Leu184=)
c.3999G>C (p.Leu1333=)
c.4059G>C (p.Leu1353=)
c.3711G>C (p.Leu1237=)
c.3540G>C (p.Leu1180=)
c.3426G>C (p.Leu1142=)
c.2988G>C (p.Leu996=)
n.4256G>C
3g.47000179G>TCA433598421NBEAL2c.4080G>T (p.Leu1360=)
c.3978G>T (p.Leu1326=)
n.417G>T
c.1960-17G>T
c.552G>T (p.Leu184=)
c.3999G>T (p.Leu1333=)
c.4059G>T (p.Leu1353=)
c.3711G>T (p.Leu1237=)
c.3540G>T (p.Leu1180=)
c.3426G>T (p.Leu1142=)
c.2988G>T (p.Leu996=)
n.4256G>T
3g.47000180G>ACA352516874NBEAL2c.4081G>A (p.Glu1361Lys)
c.3979G>A (p.Glu1327Lys)
n.418G>A
c.1960-16G>A
c.553G>A (p.Glu185Lys)
c.4000G>A (p.Glu1334Lys)
c.4060G>A (p.Glu1354Lys)
c.3712G>A (p.Glu1238Lys)
c.3541G>A (p.Glu1181Lys)
c.3427G>A (p.Glu1143Lys)
c.2989G>A (p.Glu997Lys)
n.4257G>A
3g.47000180G>CCA352516875NBEAL2c.4081G>C (p.Glu1361Gln)
c.3979G>C (p.Glu1327Gln)
n.418G>C
c.1960-16G>C
c.553G>C (p.Glu185Gln)
c.4000G>C (p.Glu1334Gln)
c.4060G>C (p.Glu1354Gln)
c.3712G>C (p.Glu1238Gln)
c.3541G>C (p.Glu1181Gln)
c.3427G>C (p.Glu1143Gln)
c.2989G>C (p.Glu997Gln)
n.4257G>C
3g.47000180G=CA1362363054NBEAL2c.4081G= (p.Glu1361=)
c.3979G= (p.Glu1327=)
n.418G=
c.1960-16G=
c.553G= (p.Glu185=)
c.4000G= (p.Glu1334=)
c.4060G= (p.Glu1354=)
c.3712G= (p.Glu1238=)
c.3541G= (p.Glu1181=)
c.3427G= (p.Glu1143=)
c.2989G= (p.Glu997=)
n.4257G=
3g.47000180G>TCA352516876NBEAL2c.4081G>T (p.Glu1361Ter)
c.3979G>T (p.Glu1327Ter)
n.418G>T
c.1960-16G>T
c.553G>T (p.Glu185Ter)
c.4000G>T (p.Glu1334Ter)
c.4060G>T (p.Glu1354Ter)
c.3712G>T (p.Glu1238Ter)
c.3541G>T (p.Glu1181Ter)
c.3427G>T (p.Glu1143Ter)
c.2989G>T (p.Glu997Ter)
n.4257G>T
 ClinVar dbSNP gnomAD v4
3g.47000181A=CA1362363055NBEAL2c.4082A= (p.Glu1361=)
c.3980A= (p.Glu1327=)
n.419A=
c.1960-15A=
c.554A= (p.Glu185=)
c.4001A= (p.Glu1334=)
c.4061A= (p.Glu1354=)
c.3713A= (p.Glu1238=)
c.3542A= (p.Glu1181=)
c.3428A= (p.Glu1143=)
c.2990A= (p.Glu997=)
n.4258A=
3g.47000181A>CCA352516877NBEAL2c.4082A>C (p.Glu1361Ala)
c.3980A>C (p.Glu1327Ala)
n.419A>C
c.1960-15A>C
c.554A>C (p.Glu185Ala)
c.4001A>C (p.Glu1334Ala)
c.4061A>C (p.Glu1354Ala)
c.3713A>C (p.Glu1238Ala)
c.3542A>C (p.Glu1181Ala)
c.3428A>C (p.Glu1143Ala)
c.2990A>C (p.Glu997Ala)
n.4258A>C
3g.47000181A>GCA352516878NBEAL2c.4082A>G (p.Glu1361Gly)
c.3980A>G (p.Glu1327Gly)
n.419A>G
c.1960-15A>G
c.554A>G (p.Glu185Gly)
c.4001A>G (p.Glu1334Gly)
c.4061A>G (p.Glu1354Gly)
c.3713A>G (p.Glu1238Gly)
c.3542A>G (p.Glu1181Gly)
c.3428A>G (p.Glu1143Gly)
c.2990A>G (p.Glu997Gly)
n.4258A>G
3g.47000181A>TCA352516879NBEAL2c.4082A>T (p.Glu1361Val)
c.3980A>T (p.Glu1327Val)
n.419A>T
c.1960-15A>T
c.554A>T (p.Glu185Val)
c.4001A>T (p.Glu1334Val)
c.4061A>T (p.Glu1354Val)
c.3713A>T (p.Glu1238Val)
c.3542A>T (p.Glu1181Val)
c.3428A>T (p.Glu1143Val)
c.2990A>T (p.Glu997Val)
n.4258A>T
 dbSNP
3g.47000182A>CCA352516880NBEAL2c.4083A>C (p.Glu1361Asp)
c.3981A>C (p.Glu1327Asp)
n.420A>C
c.1960-14A>C
c.555A>C (p.Glu185Asp)
c.4002A>C (p.Glu1334Asp)
c.4062A>C (p.Glu1354Asp)
c.3714A>C (p.Glu1238Asp)
c.3543A>C (p.Glu1181Asp)
c.3429A>C (p.Glu1143Asp)
c.2991A>C (p.Glu997Asp)
n.4259A>C
3g.47000182A>GCA433598422NBEAL2c.4083A>G (p.Glu1361=)
c.3981A>G (p.Glu1327=)
n.420A>G
c.1960-14A>G
c.555A>G (p.Glu185=)
c.4002A>G (p.Glu1334=)
c.4062A>G (p.Glu1354=)
c.3714A>G (p.Glu1238=)
c.3543A>G (p.Glu1181=)
c.3429A>G (p.Glu1143=)
c.2991A>G (p.Glu997=)
n.4259A>G
3g.47000182A>TCA352516881NBEAL2c.4083A>T (p.Glu1361Asp)
c.3981A>T (p.Glu1327Asp)
n.420A>T
c.1960-14A>T
c.555A>T (p.Glu185Asp)
c.4002A>T (p.Glu1334Asp)
c.4062A>T (p.Glu1354Asp)
c.3714A>T (p.Glu1238Asp)
c.3543A>T (p.Glu1181Asp)
c.3429A>T (p.Glu1143Asp)
c.2991A>T (p.Glu997Asp)
n.4259A>T
 gnomAD v4
3g.47000182_47000183delinsACCA1362363056NBEAL2c.4083_4084delinsAC (p.Glu1361=)
c.3981_3982delinsAC (p.Glu1327=)
n.420_421delinsAC
c.1960-14_1960-13delinsAC
c.555_556delinsAC (p.Glu185=)
c.4002_4003delinsAC (p.Glu1334=)
c.4062_4063delinsAC (p.Glu1354=)
c.3714_3715delinsAC (p.Glu1238=)
c.3543_3544delinsAC (p.Glu1181=)
c.3429_3430delinsAC (p.Glu1143=)
c.2991_2992delinsAC (p.Glu997=)
n.4259_4260delinsAC
3g.47000183delCA543042211NBEAL2c.4084del (p.Arg1362GlyfsTer4)
c.3982del (p.Arg1328GlyfsTer4)
n.421del
c.1960-13del
c.556del (p.Arg186GlyfsTer4)
c.4003del (p.Arg1335GlyfsTer4)
c.4063del (p.Arg1355GlyfsTer4)
c.3715del (p.Arg1239GlyfsTer4)
c.3544del (p.Arg1182GlyfsTer4)
c.3430del (p.Arg1144GlyfsTer4)
c.2992del (p.Arg998GlyfsTer4)
n.4260del
 dbSNP gnomAD v2
3g.47000183C>ACA433598425NBEAL2c.4084C>A (p.Arg1362=)
c.3982C>A (p.Arg1328=)
n.421C>A
c.1960-13C>A
c.556C>A (p.Arg186=)
c.4003C>A (p.Arg1335=)
c.4063C>A (p.Arg1355=)
c.3715C>A (p.Arg1239=)
c.3544C>A (p.Arg1182=)
c.3430C>A (p.Arg1144=)
c.2992C>A (p.Arg998=)
n.4260C>A
3g.47000183C=CA1362363057NBEAL2c.4084C= (p.Arg1362=)
c.3982C= (p.Arg1328=)
n.421C=
c.1960-13C=
c.556C= (p.Arg186=)
c.4003C= (p.Arg1335=)
c.4063C= (p.Arg1355=)
c.3715C= (p.Arg1239=)
c.3544C= (p.Arg1182=)
c.3430C= (p.Arg1144=)
c.2992C= (p.Arg998=)
n.4260C=
3g.47000183C>GCA352516882NBEAL2c.4084C>G (p.Arg1362Gly)
c.3982C>G (p.Arg1328Gly)
n.421C>G
c.1960-13C>G
c.556C>G (p.Arg186Gly)
c.4003C>G (p.Arg1335Gly)
c.4063C>G (p.Arg1355Gly)
c.3715C>G (p.Arg1239Gly)
c.3544C>G (p.Arg1182Gly)
c.3430C>G (p.Arg1144Gly)
c.2992C>G (p.Arg998Gly)
n.4260C>G
3g.47000183C>TCA2361139NBEAL2c.4084C>T (p.Arg1362Trp)
c.3982C>T (p.Arg1328Trp)
n.421C>T
c.1960-13C>T
c.556C>T (p.Arg186Trp)
c.4003C>T (p.Arg1335Trp)
c.4063C>T (p.Arg1355Trp)
c.3715C>T (p.Arg1239Trp)
c.3544C>T (p.Arg1182Trp)
c.3430C>T (p.Arg1144Trp)
c.2992C>T (p.Arg998Trp)
n.4260C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.47000184G>ACA2361140NBEAL2c.4085G>A (p.Arg1362Gln)
c.3983G>A (p.Arg1328Gln)
n.422G>A
c.1960-12G>A
c.557G>A (p.Arg186Gln)
c.4004G>A (p.Arg1335Gln)
c.4064G>A (p.Arg1355Gln)
c.3716G>A (p.Arg1239Gln)
c.3545G>A (p.Arg1182Gln)
c.3431G>A (p.Arg1144Gln)
c.2993G>A (p.Arg998Gln)
n.4261G>A
 ClinVar dbSNP ExAC gnomAD v3 gnomAD v4
3g.47000184G>CCA352516883NBEAL2c.4085G>C (p.Arg1362Pro)
c.3983G>C (p.Arg1328Pro)
n.422G>C
c.1960-12G>C
c.557G>C (p.Arg186Pro)
c.4004G>C (p.Arg1335Pro)
c.4064G>C (p.Arg1355Pro)
c.3716G>C (p.Arg1239Pro)
c.3545G>C (p.Arg1182Pro)
c.3431G>C (p.Arg1144Pro)
c.2993G>C (p.Arg998Pro)
n.4261G>C
3g.47000184G=CA1362363058NBEAL2c.4085G= (p.Arg1362=)
c.3983G= (p.Arg1328=)
n.422G=
c.1960-12G=
c.557G= (p.Arg186=)
c.4004G= (p.Arg1335=)
c.4064G= (p.Arg1355=)
c.3716G= (p.Arg1239=)
c.3545G= (p.Arg1182=)
c.3431G= (p.Arg1144=)
c.2993G= (p.Arg998=)
n.4261G=
3g.47000184G>TCA352516884NBEAL2c.4085G>T (p.Arg1362Leu)
c.3983G>T (p.Arg1328Leu)
n.422G>T
c.1960-12G>T
c.557G>T (p.Arg186Leu)
c.4004G>T (p.Arg1335Leu)
c.4064G>T (p.Arg1355Leu)
c.3716G>T (p.Arg1239Leu)
c.3545G>T (p.Arg1182Leu)
c.3431G>T (p.Arg1144Leu)
c.2993G>T (p.Arg998Leu)
n.4261G>T
 gnomAD v4
3g.47000184_47000188delCA2665493244NBEAL2c.4085_4089del (p.Arg1362GlnfsTer?)
c.3983_3987del (p.Arg1328GlnfsTer?)
n.422_426del
c.1960-12_1960-8del
c.557_561del (p.Arg186GlnfsTer?)
c.4004_4008del (p.Arg1335GlnfsTer?)
c.4064_4068del (p.Arg1355GlnfsTer?)
c.3716_3720del (p.Arg1239GlnfsTer?)
c.3545_3549del (p.Arg1182GlnfsTer?)
c.3431_3435del (p.Arg1144GlnfsTer?)
c.2993_2997del (p.Arg998GlnfsTer?)
n.4261_4265del
 gnomAD v4
3g.47000185G>ACA2361141NBEAL2c.4086G>A (p.Arg1362=)
c.3984G>A (p.Arg1328=)
n.423G>A
c.1960-11G>A
c.558G>A (p.Arg186=)
c.4005G>A (p.Arg1335=)
c.4065G>A (p.Arg1355=)
c.3717G>A (p.Arg1239=)
c.3546G>A (p.Arg1182=)
c.3432G>A (p.Arg1144=)
c.2994G>A (p.Arg998=)
n.4262G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.47000185G>CCA433598427NBEAL2c.4086G>C (p.Arg1362=)
c.3984G>C (p.Arg1328=)
n.423G>C
c.1960-11G>C
c.558G>C (p.Arg186=)
c.4005G>C (p.Arg1335=)
c.4065G>C (p.Arg1355=)
c.3717G>C (p.Arg1239=)
c.3546G>C (p.Arg1182=)
c.3432G>C (p.Arg1144=)
c.2994G>C (p.Arg998=)
n.4262G>C
3g.47000185G=CA1362363059NBEAL2c.4086G= (p.Arg1362=)
c.3984G= (p.Arg1328=)
n.423G=
c.1960-11G=
c.558G= (p.Arg186=)
c.4005G= (p.Arg1335=)
c.4065G= (p.Arg1355=)
c.3717G= (p.Arg1239=)
c.3546G= (p.Arg1182=)
c.3432G= (p.Arg1144=)
c.2994G= (p.Arg998=)
n.4262G=
3g.47000185G>TCA433598428NBEAL2c.4086G>T (p.Arg1362=)
c.3984G>T (p.Arg1328=)
n.423G>T
c.1960-11G>T
c.558G>T (p.Arg186=)
c.4005G>T (p.Arg1335=)
c.4065G>T (p.Arg1355=)
c.3717G>T (p.Arg1239=)
c.3546G>T (p.Arg1182=)
c.3432G>T (p.Arg1144=)
c.2994G>T (p.Arg998=)
n.4262G>T
3g.47000186T>ACA352516885NBEAL2c.4087T>A (p.Ser1363Thr)
c.3985T>A (p.Ser1329Thr)
n.424T>A
c.1960-10T>A
c.559T>A (p.Ser187Thr)
c.4006T>A (p.Ser1336Thr)
c.4066T>A (p.Ser1356Thr)
c.3718T>A (p.Ser1240Thr)
c.3547T>A (p.Ser1183Thr)
c.3433T>A (p.Ser1145Thr)
c.2995T>A (p.Ser999Thr)
n.4263T>A
3g.47000186T>CCA352516886NBEAL2c.4087T>C (p.Ser1363Pro)
c.3985T>C (p.Ser1329Pro)
n.424T>C
c.1960-10T>C
c.559T>C (p.Ser187Pro)
c.4006T>C (p.Ser1336Pro)
c.4066T>C (p.Ser1356Pro)
c.3718T>C (p.Ser1240Pro)
c.3547T>C (p.Ser1183Pro)
c.3433T>C (p.Ser1145Pro)
c.2995T>C (p.Ser999Pro)
n.4263T>C
3g.47000186T>GCA352516887NBEAL2c.4087T>G (p.Ser1363Ala)
c.3985T>G (p.Ser1329Ala)
n.424T>G
c.1960-10T>G
c.559T>G (p.Ser187Ala)
c.4006T>G (p.Ser1336Ala)
c.4066T>G (p.Ser1356Ala)
c.3718T>G (p.Ser1240Ala)
c.3547T>G (p.Ser1183Ala)
c.3433T>G (p.Ser1145Ala)
c.2995T>G (p.Ser999Ala)
n.4263T>G
3g.47000187C>ACA352516888NBEAL2c.4088C>A (p.Ser1363Tyr)
c.3986C>A (p.Ser1329Tyr)
n.425C>A
c.1960-9C>A
c.560C>A (p.Ser187Tyr)
c.4007C>A (p.Ser1336Tyr)
c.4067C>A (p.Ser1356Tyr)
c.3719C>A (p.Ser1240Tyr)
c.3548C>A (p.Ser1183Tyr)
c.3434C>A (p.Ser1145Tyr)
c.2996C>A (p.Ser999Tyr)
n.4264C>A
3g.47000187C=CA1362363060NBEAL2c.4088C= (p.Ser1363=)
c.3986C= (p.Ser1329=)
n.425C=
c.1960-9C=
c.560C= (p.Ser187=)
c.4007C= (p.Ser1336=)
c.4067C= (p.Ser1356=)
c.3719C= (p.Ser1240=)
c.3548C= (p.Ser1183=)
c.3434C= (p.Ser1145=)
c.2996C= (p.Ser999=)
n.4264C=
3g.47000187C>GCA352516889NBEAL2c.4088C>G (p.Ser1363Cys)
c.3986C>G (p.Ser1329Cys)
n.425C>G
c.1960-9C>G
c.560C>G (p.Ser187Cys)
c.4007C>G (p.Ser1336Cys)
c.4067C>G (p.Ser1356Cys)
c.3719C>G (p.Ser1240Cys)
c.3548C>G (p.Ser1183Cys)
c.3434C>G (p.Ser1145Cys)
c.2996C>G (p.Ser999Cys)
n.4264C>G
 dbSNP gnomAD v2 gnomAD v4
3g.47000187C>TCA352516890NBEAL2c.4088C>T (p.Ser1363Phe)
c.3986C>T (p.Ser1329Phe)
n.425C>T
c.1960-9C>T
c.560C>T (p.Ser187Phe)
c.4007C>T (p.Ser1336Phe)
c.4067C>T (p.Ser1356Phe)
c.3719C>T (p.Ser1240Phe)
c.3548C>T (p.Ser1183Phe)
c.3434C>T (p.Ser1145Phe)
c.2996C>T (p.Ser999Phe)
n.4264C>T
3g.47000188T>ACA433598434NBEAL2c.4089T>A (p.Ser1363=)
c.3987T>A (p.Ser1329=)
n.426T>A
c.1960-8T>A
c.561T>A (p.Ser187=)
c.4008T>A (p.Ser1336=)
c.4068T>A (p.Ser1356=)
c.3720T>A (p.Ser1240=)
c.3549T>A (p.Ser1183=)
c.3435T>A (p.Ser1145=)
c.2997T>A (p.Ser999=)
n.4265T>A
3g.47000188T>CCA433598431NBEAL2c.4089T>C (p.Ser1363=)
c.3987T>C (p.Ser1329=)
n.426T>C
c.1960-8T>C
c.561T>C (p.Ser187=)
c.4008T>C (p.Ser1336=)
c.4068T>C (p.Ser1356=)
c.3720T>C (p.Ser1240=)
c.3549T>C (p.Ser1183=)
c.3435T>C (p.Ser1145=)
c.2997T>C (p.Ser999=)
n.4265T>C
3g.47000188T>GCA433598432NBEAL2c.4089T>G (p.Ser1363=)
c.3987T>G (p.Ser1329=)
n.426T>G
c.1960-8T>G
c.561T>G (p.Ser187=)
c.4008T>G (p.Ser1336=)
c.4068T>G (p.Ser1356=)
c.3720T>G (p.Ser1240=)
c.3549T>G (p.Ser1183=)
c.3435T>G (p.Ser1145=)
c.2997T>G (p.Ser999=)
n.4265T>G
3g.47000189A>CCA352516891NBEAL2c.4090A>C (p.Ser1364Arg)
c.3988A>C (p.Ser1330Arg)
n.427A>C
c.1960-7A>C
c.562A>C (p.Ser188Arg)
c.4009A>C (p.Ser1337Arg)
c.4069A>C (p.Ser1357Arg)
c.3721A>C (p.Ser1241Arg)
c.3550A>C (p.Ser1184Arg)
c.3436A>C (p.Ser1146Arg)
c.2998A>C (p.Ser1000Arg)
n.4266A>C
3g.47000189A>GCA352516892NBEAL2c.4090A>G (p.Ser1364Gly)
c.3988A>G (p.Ser1330Gly)
n.427A>G
c.1960-7A>G
c.562A>G (p.Ser188Gly)
c.4009A>G (p.Ser1337Gly)
c.4069A>G (p.Ser1357Gly)
c.3721A>G (p.Ser1241Gly)
c.3550A>G (p.Ser1184Gly)
c.3436A>G (p.Ser1146Gly)
c.2998A>G (p.Ser1000Gly)
n.4266A>G
3g.47000189A>TCA352516893NBEAL2c.4090A>T (p.Ser1364Cys)
c.3988A>T (p.Ser1330Cys)
n.427A>T
c.1960-7A>T
c.562A>T (p.Ser188Cys)
c.4009A>T (p.Ser1337Cys)
c.4069A>T (p.Ser1357Cys)
c.3721A>T (p.Ser1241Cys)
c.3550A>T (p.Ser1184Cys)
c.3436A>T (p.Ser1146Cys)
c.2998A>T (p.Ser1000Cys)
n.4266A>T
3g.47000190G>ACA352516894NBEAL2c.4091G>A (p.Ser1364Asn)
c.3989G>A (p.Ser1330Asn)
n.428G>A
c.1960-6G>A
c.563G>A (p.Ser188Asn)
c.4010G>A (p.Ser1337Asn)
c.4070G>A (p.Ser1357Asn)
c.3722G>A (p.Ser1241Asn)
c.3551G>A (p.Ser1184Asn)
c.3437G>A (p.Ser1146Asn)
c.2999G>A (p.Ser1000Asn)
n.4267G>A
 dbSNP gnomAD v3 gnomAD v4
3g.47000190G>CCA352516895NBEAL2c.4091G>C (p.Ser1364Thr)
c.3989G>C (p.Ser1330Thr)
n.428G>C
c.1960-6G>C
c.563G>C (p.Ser188Thr)
c.4010G>C (p.Ser1337Thr)
c.4070G>C (p.Ser1357Thr)
c.3722G>C (p.Ser1241Thr)
c.3551G>C (p.Ser1184Thr)
c.3437G>C (p.Ser1146Thr)
c.2999G>C (p.Ser1000Thr)
n.4267G>C
3g.47000190G=CA1362363061NBEAL2c.4091G= (p.Ser1364=)
c.3989G= (p.Ser1330=)
n.428G=
c.1960-6G=
c.563G= (p.Ser188=)
c.4010G= (p.Ser1337=)
c.4070G= (p.Ser1357=)
c.3722G= (p.Ser1241=)
c.3551G= (p.Ser1184=)
c.3437G= (p.Ser1146=)
c.2999G= (p.Ser1000=)
n.4267G=
3g.47000190G>TCA352516896NBEAL2c.4091G>T (p.Ser1364Ile)
c.3989G>T (p.Ser1330Ile)
n.428G>T
c.1960-6G>T
c.563G>T (p.Ser188Ile)
c.4010G>T (p.Ser1337Ile)
c.4070G>T (p.Ser1357Ile)
c.3722G>T (p.Ser1241Ile)
c.3551G>T (p.Ser1184Ile)
c.3437G>T (p.Ser1146Ile)
c.2999G>T (p.Ser1000Ile)
n.4267G>T
3g.47000192_47000193delCA2665493245NBEAL2c.4093_4094del (p.Val1365ArgfsTer?)
c.3991_3992del (p.Val1331ArgfsTer?)
n.430_431del
c.1960-4_1960-3del
c.565_566del (p.Val189ArgfsTer?)
c.4012_4013del (p.Val1338ArgfsTer?)
c.4072_4073del (p.Val1358ArgfsTer?)
c.3724_3725del (p.Val1242ArgfsTer?)
c.3553_3554del (p.Val1185ArgfsTer?)
c.3439_3440del (p.Val1147ArgfsTer?)
c.3001_3002del (p.Val1001ArgfsTer?)
n.4269_4270del
 gnomAD v4
3g.47000191T>ACA352516897NBEAL2c.4092T>A (p.Ser1364Arg)
c.3990T>A (p.Ser1330Arg)
n.429T>A
c.1960-5T>A
c.564T>A (p.Ser188Arg)
c.4011T>A (p.Ser1337Arg)
c.4071T>A (p.Ser1357Arg)
c.3723T>A (p.Ser1241Arg)
c.3552T>A (p.Ser1184Arg)
c.3438T>A (p.Ser1146Arg)
c.3000T>A (p.Ser1000Arg)
n.4268T>A
3g.47000191T>CCA433598436NBEAL2c.4092T>C (p.Ser1364=)
c.3990T>C (p.Ser1330=)
n.429T>C
c.1960-5T>C
c.564T>C (p.Ser188=)
c.4011T>C (p.Ser1337=)
c.4071T>C (p.Ser1357=)
c.3723T>C (p.Ser1241=)
c.3552T>C (p.Ser1184=)
c.3438T>C (p.Ser1146=)
c.3000T>C (p.Ser1000=)
n.4268T>C
 gnomAD v4
3g.47000191T>GCA352516898NBEAL2c.4092T>G (p.Ser1364Arg)
c.3990T>G (p.Ser1330Arg)
n.429T>G
c.1960-5T>G
c.564T>G (p.Ser188Arg)
c.4011T>G (p.Ser1337Arg)
c.4071T>G (p.Ser1357Arg)
c.3723T>G (p.Ser1241Arg)
c.3552T>G (p.Ser1184Arg)
c.3438T>G (p.Ser1146Arg)
c.3000T>G (p.Ser1000Arg)
n.4268T>G
3g.47000192G>ACA352516899NBEAL2c.4093G>A (p.Val1365Ile)
c.3991G>A (p.Val1331Ile)
n.430G>A
c.1960-4G>A
c.565G>A (p.Val189Ile)
c.4012G>A (p.Val1338Ile)
c.4072G>A (p.Val1358Ile)
c.3724G>A (p.Val1242Ile)
c.3553G>A (p.Val1185Ile)
c.3439G>A (p.Val1147Ile)
c.3001G>A (p.Val1001Ile)
n.4269G>A
3g.47000192G>CCA352516900NBEAL2c.4093G>C (p.Val1365Leu)
c.3991G>C (p.Val1331Leu)
n.430G>C
c.1960-4G>C
c.565G>C (p.Val189Leu)
c.4012G>C (p.Val1338Leu)
c.4072G>C (p.Val1358Leu)
c.3724G>C (p.Val1242Leu)
c.3553G>C (p.Val1185Leu)
c.3439G>C (p.Val1147Leu)
c.3001G>C (p.Val1001Leu)
n.4269G>C
 COSMIC COSMIC
3g.47000192G>TCA352516901NBEAL2c.4093G>T (p.Val1365Leu)
c.3991G>T (p.Val1331Leu)
n.430G>T
c.1960-4G>T
c.565G>T (p.Val189Leu)
c.4012G>T (p.Val1338Leu)
c.4072G>T (p.Val1358Leu)
c.3724G>T (p.Val1242Leu)
c.3553G>T (p.Val1185Leu)
c.3439G>T (p.Val1147Leu)
c.3001G>T (p.Val1001Leu)
n.4269G>T
3g.47000193T>ACA352516902NBEAL2c.4094T>A (p.Val1365Glu)
c.3992T>A (p.Val1331Glu)
n.431T>A
c.1960-3T>A
c.566T>A (p.Val189Glu)
c.4013T>A (p.Val1338Glu)
c.4073T>A (p.Val1358Glu)
c.3725T>A (p.Val1242Glu)
c.3554T>A (p.Val1185Glu)
c.3440T>A (p.Val1147Glu)
c.3002T>A (p.Val1001Glu)
n.4270T>A
3g.47000193T>CCA352516903NBEAL2c.4094T>C (p.Val1365Ala)
c.3992T>C (p.Val1331Ala)
n.431T>C
c.1960-3T>C
c.566T>C (p.Val189Ala)
c.4013T>C (p.Val1338Ala)
c.4073T>C (p.Val1358Ala)
c.3725T>C (p.Val1242Ala)
c.3554T>C (p.Val1185Ala)
c.3440T>C (p.Val1147Ala)
c.3002T>C (p.Val1001Ala)
n.4270T>C
3g.47000193T>GCA352516904NBEAL2c.4094T>G (p.Val1365Gly)
c.3992T>G (p.Val1331Gly)
n.431T>G
c.1960-3T>G
c.566T>G (p.Val189Gly)
c.4013T>G (p.Val1338Gly)
c.4073T>G (p.Val1358Gly)
c.3725T>G (p.Val1242Gly)
c.3554T>G (p.Val1185Gly)
c.3440T>G (p.Val1147Gly)
c.3002T>G (p.Val1001Gly)
n.4270T>G
3g.47000194A>CCA433598441NBEAL2c.4095A>C (p.Val1365=)
c.3993A>C (p.Val1331=)
n.432A>C
c.1960-2A>C
c.567A>C (p.Val189=)
c.4014A>C (p.Val1338=)
c.4074A>C (p.Val1358=)
c.3726A>C (p.Val1242=)
c.3555A>C (p.Val1185=)
c.3441A>C (p.Val1147=)
c.3003A>C (p.Val1001=)
n.4271A>C
3g.47000194A>GCA433598440NBEAL2c.4095A>G (p.Val1365=)
c.3993A>G (p.Val1331=)
n.432A>G
c.1960-2A>G
c.567A>G (p.Val189=)
c.4014A>G (p.Val1338=)
c.4074A>G (p.Val1358=)
c.3726A>G (p.Val1242=)
c.3555A>G (p.Val1185=)
c.3441A>G (p.Val1147=)
c.3003A>G (p.Val1001=)
n.4271A>G
3g.47000194A>TCA433598442NBEAL2c.4095A>T (p.Val1365=)
c.3993A>T (p.Val1331=)
n.432A>T
c.1960-2A>T
c.567A>T (p.Val189=)
c.4014A>T (p.Val1338=)
c.4074A>T (p.Val1358=)
c.3726A>T (p.Val1242=)
c.3555A>T (p.Val1185=)
c.3441A>T (p.Val1147=)
c.3003A>T (p.Val1001=)
n.4271A>T
3g.47000195G>ACA352516907NBEAL2c.4096G>A (p.Gly1366Arg)
c.3994G>A (p.Gly1332Arg)
n.433G>A
c.1960-1G>A
c.568G>A (p.Gly190Arg)
c.4015G>A (p.Gly1339Arg)
c.4075G>A (p.Gly1359Arg)
c.3727G>A (p.Gly1243Arg)
c.3556G>A (p.Gly1186Arg)
c.3442G>A (p.Gly1148Arg)
c.3004G>A (p.Gly1002Arg)
n.4272G>A
3g.47000195G>CCA352516906NBEAL2c.4096G>C (p.Gly1366Arg)
c.3994G>C (p.Gly1332Arg)
n.433G>C
c.1960-1G>C
c.568G>C (p.Gly190Arg)
c.4015G>C (p.Gly1339Arg)
c.4075G>C (p.Gly1359Arg)
c.3727G>C (p.Gly1243Arg)
c.3556G>C (p.Gly1186Arg)
c.3442G>C (p.Gly1148Arg)
c.3004G>C (p.Gly1002Arg)
n.4272G>C
3g.47000195G>TCA352516905NBEAL2c.4096G>T (p.Gly1366Ter)
c.3994G>T (p.Gly1332Ter)
n.433G>T
c.1960-1G>T
c.568G>T (p.Gly190Ter)
c.4015G>T (p.Gly1339Ter)
c.4075G>T (p.Gly1359Ter)
c.3727G>T (p.Gly1243Ter)
c.3556G>T (p.Gly1186Ter)
c.3442G>T (p.Gly1148Ter)
c.3004G>T (p.Gly1002Ter)
n.4272G>T
3g.47000196G>ACA352516908NBEAL2c.4097G>A (p.Gly1366Glu)
c.3995G>A (p.Gly1332Glu)
n.434G>A
c.1960G>A
c.569G>A (p.Gly190Glu)
c.4016G>A (p.Gly1339Glu)
c.4076G>A (p.Gly1359Glu)
c.3728G>A (p.Gly1243Glu)
c.3557G>A (p.Gly1186Glu)
c.3443G>A (p.Gly1148Glu)
c.3005G>A (p.Gly1002Glu)
n.4273G>A
3g.47000196G>CCA2361142NBEAL2c.4097G>C (p.Gly1366Ala)
c.3995G>C (p.Gly1332Ala)
n.434G>C
c.1960G>C
c.569G>C (p.Gly190Ala)
c.4016G>C (p.Gly1339Ala)
c.4076G>C (p.Gly1359Ala)
c.3728G>C (p.Gly1243Ala)
c.3557G>C (p.Gly1186Ala)
c.3443G>C (p.Gly1148Ala)
c.3005G>C (p.Gly1002Ala)
n.4273G>C
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.47000196G=CA1362363062NBEAL2c.4097G= (p.Gly1366=)
c.3995G= (p.Gly1332=)
n.434G=
c.1960G=
c.569G= (p.Gly190=)
c.4016G= (p.Gly1339=)
c.4076G= (p.Gly1359=)
c.3728G= (p.Gly1243=)
c.3557G= (p.Gly1186=)
c.3443G= (p.Gly1148=)
c.3005G= (p.Gly1002=)
n.4273G=
3g.47000196G>TCA352516909NBEAL2c.4097G>T (p.Gly1366Val)
c.3995G>T (p.Gly1332Val)
n.434G>T
c.1960G>T
c.569G>T (p.Gly190Val)
c.4016G>T (p.Gly1339Val)
c.4076G>T (p.Gly1359Val)
c.3728G>T (p.Gly1243Val)
c.3557G>T (p.Gly1186Val)
c.3443G>T (p.Gly1148Val)
c.3005G>T (p.Gly1002Val)
n.4273G>T
 COSMIC COSMIC
3g.47000197A>CCA433598219NBEAL2c.4098A>C (p.Gly1366=)
c.3996A>C (p.Gly1332=)
n.435A>C
c.1961A>C
c.570A>C (p.Gly190=)
c.4017A>C (p.Gly1339=)
c.4077A>C (p.Gly1359=)
c.3729A>C (p.Gly1243=)
c.3558A>C (p.Gly1186=)
c.3444A>C (p.Gly1148=)
c.3006A>C (p.Gly1002=)
n.4274A>C
3g.47000197A>GCA433598221NBEAL2c.4098A>G (p.Gly1366=)
c.3996A>G (p.Gly1332=)
n.435A>G
c.1961A>G
c.570A>G (p.Gly190=)
c.4017A>G (p.Gly1339=)
c.4077A>G (p.Gly1359=)
c.3729A>G (p.Gly1243=)
c.3558A>G (p.Gly1186=)
c.3444A>G (p.Gly1148=)
c.3006A>G (p.Gly1002=)
n.4274A>G
3g.47000197A>TCA433598223NBEAL2c.4098A>T (p.Gly1366=)
c.3996A>T (p.Gly1332=)
n.435A>T
c.1961A>T
c.570A>T (p.Gly190=)
c.4017A>T (p.Gly1339=)
c.4077A>T (p.Gly1359=)
c.3729A>T (p.Gly1243=)
c.3558A>T (p.Gly1186=)
c.3444A>T (p.Gly1148=)
c.3006A>T (p.Gly1002=)
n.4274A>T
3g.47000198T>ACA352516910NBEAL2c.4099T>A (p.Ser1367Thr)
c.3997T>A (p.Ser1333Thr)
n.436T>A
c.1962T>A
c.571T>A (p.Ser191Thr)
c.4018T>A (p.Ser1340Thr)
c.4078T>A (p.Ser1360Thr)
c.3730T>A (p.Ser1244Thr)
c.3559T>A (p.Ser1187Thr)
c.3445T>A (p.Ser1149Thr)
c.3007T>A (p.Ser1003Thr)
n.4275T>A
3g.47000198T>CCA352516911NBEAL2c.4099T>C (p.Ser1367Pro)
c.3997T>C (p.Ser1333Pro)
n.436T>C
c.1962T>C
c.571T>C (p.Ser191Pro)
c.4018T>C (p.Ser1340Pro)
c.4078T>C (p.Ser1360Pro)
c.3730T>C (p.Ser1244Pro)
c.3559T>C (p.Ser1187Pro)
c.3445T>C (p.Ser1149Pro)
c.3007T>C (p.Ser1003Pro)
n.4275T>C
3g.47000198T>GCA352516912NBEAL2c.4099T>G (p.Ser1367Ala)
c.3997T>G (p.Ser1333Ala)
n.436T>G
c.1962T>G
c.571T>G (p.Ser191Ala)
c.4018T>G (p.Ser1340Ala)
c.4078T>G (p.Ser1360Ala)
c.3730T>G (p.Ser1244Ala)
c.3559T>G (p.Ser1187Ala)
c.3445T>G (p.Ser1149Ala)
c.3007T>G (p.Ser1003Ala)
n.4275T>G
3g.47000199C>ACA352516913NBEAL2c.4100C>A (p.Ser1367Ter)
c.3998C>A (p.Ser1333Ter)
n.437C>A
c.1963C>A
c.572C>A (p.Ser191Ter)
c.4019C>A (p.Ser1340Ter)
c.4079C>A (p.Ser1360Ter)
c.3731C>A (p.Ser1244Ter)
c.3560C>A (p.Ser1187Ter)
c.3446C>A (p.Ser1149Ter)
c.3008C>A (p.Ser1003Ter)
n.4276C>A
3g.47000199C>GCA352516915NBEAL2c.4100C>G (p.Ser1367Ter)
c.3998C>G (p.Ser1333Ter)
n.437C>G
c.1963C>G
c.572C>G (p.Ser191Ter)
c.4019C>G (p.Ser1340Ter)
c.4079C>G (p.Ser1360Ter)
c.3731C>G (p.Ser1244Ter)
c.3560C>G (p.Ser1187Ter)
c.3446C>G (p.Ser1149Ter)
c.3008C>G (p.Ser1003Ter)
n.4276C>G
3g.47000199C>TCA352516914NBEAL2c.4100C>T (p.Ser1367Leu)
c.3998C>T (p.Ser1333Leu)
n.437C>T
c.1963C>T
c.572C>T (p.Ser191Leu)
c.4019C>T (p.Ser1340Leu)
c.4079C>T (p.Ser1360Leu)
c.3731C>T (p.Ser1244Leu)
c.3560C>T (p.Ser1187Leu)
c.3446C>T (p.Ser1149Leu)
c.3008C>T (p.Ser1003Leu)
n.4276C>T
 gnomAD v4
3g.47000200A>CCA433598225NBEAL2c.4101A>C (p.Ser1367=)
c.3999A>C (p.Ser1333=)
n.438A>C
c.1964A>C
c.573A>C (p.Ser191=)
c.4020A>C (p.Ser1340=)
c.4080A>C (p.Ser1360=)
c.3732A>C (p.Ser1244=)
c.3561A>C (p.Ser1187=)
c.3447A>C (p.Ser1149=)
c.3009A>C (p.Ser1003=)
n.4277A>C
3g.47000200A>GCA433598226NBEAL2c.4101A>G (p.Ser1367=)
c.3999A>G (p.Ser1333=)
n.438A>G
c.1964A>G
c.573A>G (p.Ser191=)
c.4020A>G (p.Ser1340=)
c.4080A>G (p.Ser1360=)
c.3732A>G (p.Ser1244=)
c.3561A>G (p.Ser1187=)
c.3447A>G (p.Ser1149=)
c.3009A>G (p.Ser1003=)
n.4277A>G
3g.47000200A>TCA433598227NBEAL2c.4101A>T (p.Ser1367=)
c.3999A>T (p.Ser1333=)
n.438A>T
c.1964A>T
c.573A>T (p.Ser191=)
c.4020A>T (p.Ser1340=)
c.4080A>T (p.Ser1360=)
c.3732A>T (p.Ser1244=)
c.3561A>T (p.Ser1187=)
c.3447A>T (p.Ser1149=)
c.3009A>T (p.Ser1003=)
n.4277A>T
3g.47000201G>ACA73817788NBEAL2c.4102G>A (p.Gly1368Ser)
c.4000G>A (p.Gly1334Ser)
n.439G>A
c.1965G>A
c.574G>A (p.Gly192Ser)
c.4021G>A (p.Gly1341Ser)
c.4081G>A (p.Gly1361Ser)
c.3733G>A (p.Gly1245Ser)
c.3562G>A (p.Gly1188Ser)
c.3448G>A (p.Gly1150Ser)
c.3010G>A (p.Gly1004Ser)
n.4278G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.47000201G>CCA352516916NBEAL2c.4102G>C (p.Gly1368Arg)
c.4000G>C (p.Gly1334Arg)
n.439G>C
c.1965G>C
c.574G>C (p.Gly192Arg)
c.4021G>C (p.Gly1341Arg)
c.4081G>C (p.Gly1361Arg)
c.3733G>C (p.Gly1245Arg)
c.3562G>C (p.Gly1188Arg)
c.3448G>C (p.Gly1150Arg)
c.3010G>C (p.Gly1004Arg)
n.4278G>C
3g.47000201G=CA1362363063NBEAL2c.4102G= (p.Gly1368=)
c.4000G= (p.Gly1334=)
n.439G=
c.1965G=
c.574G= (p.Gly192=)
c.4021G= (p.Gly1341=)
c.4081G= (p.Gly1361=)
c.3733G= (p.Gly1245=)
c.3562G= (p.Gly1188=)
c.3448G= (p.Gly1150=)
c.3010G= (p.Gly1004=)
n.4278G=
3g.47000201G>TCA352516917NBEAL2c.4102G>T (p.Gly1368Cys)
c.4000G>T (p.Gly1334Cys)
n.439G>T
c.1965G>T
c.574G>T (p.Gly192Cys)
c.4021G>T (p.Gly1341Cys)
c.4081G>T (p.Gly1361Cys)
c.3733G>T (p.Gly1245Cys)
c.3562G>T (p.Gly1188Cys)
c.3448G>T (p.Gly1150Cys)
c.3010G>T (p.Gly1004Cys)
n.4278G>T
3g.47000202G>ACA2361143NBEAL2c.4103G>A (p.Gly1368Asp)
c.4001G>A (p.Gly1334Asp)
n.440G>A
c.1966G>A
c.575G>A (p.Gly192Asp)
c.4022G>A (p.Gly1341Asp)
c.4082G>A (p.Gly1361Asp)
c.3734G>A (p.Gly1245Asp)
c.3563G>A (p.Gly1188Asp)
c.3449G>A (p.Gly1150Asp)
c.3011G>A (p.Gly1004Asp)
n.4279G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.47000202G>CCA352516918NBEAL2c.4103G>C (p.Gly1368Ala)
c.4001G>C (p.Gly1334Ala)
n.440G>C
c.1966G>C
c.575G>C (p.Gly192Ala)
c.4022G>C (p.Gly1341Ala)
c.4082G>C (p.Gly1361Ala)
c.3734G>C (p.Gly1245Ala)
c.3563G>C (p.Gly1188Ala)
c.3449G>C (p.Gly1150Ala)
c.3011G>C (p.Gly1004Ala)
n.4279G>C
3g.47000202G=CA1362363064NBEAL2c.4103G= (p.Gly1368=)
c.4001G= (p.Gly1334=)
n.440G=
c.1966G=
c.575G= (p.Gly192=)
c.4022G= (p.Gly1341=)
c.4082G= (p.Gly1361=)
c.3734G= (p.Gly1245=)
c.3563G= (p.Gly1188=)
c.3449G= (p.Gly1150=)
c.3011G= (p.Gly1004=)
n.4279G=
3g.47000202G>TCA352516919NBEAL2c.4103G>T (p.Gly1368Val)
c.4001G>T (p.Gly1334Val)
n.440G>T
c.1966G>T
c.575G>T (p.Gly192Val)
c.4022G>T (p.Gly1341Val)
c.4082G>T (p.Gly1361Val)
c.3734G>T (p.Gly1245Val)
c.3563G>T (p.Gly1188Val)
c.3449G>T (p.Gly1150Val)
c.3011G>T (p.Gly1004Val)
n.4279G>T
 gnomAD v4
3g.47000203C>ACA433598229NBEAL2c.4104C>A (p.Gly1368=)
c.4002C>A (p.Gly1334=)
n.441C>A
c.1967C>A
c.576C>A (p.Gly192=)
c.4023C>A (p.Gly1341=)
c.4083C>A (p.Gly1361=)
c.3735C>A (p.Gly1245=)
c.3564C>A (p.Gly1188=)
c.3450C>A (p.Gly1150=)
c.3012C>A (p.Gly1004=)
n.4280C>A
3g.47000203C>GCA433598231NBEAL2c.4104C>G (p.Gly1368=)
c.4002C>G (p.Gly1334=)
n.441C>G
c.1967C>G
c.576C>G (p.Gly192=)
c.4023C>G (p.Gly1341=)
c.4083C>G (p.Gly1361=)
c.3735C>G (p.Gly1245=)
c.3564C>G (p.Gly1188=)
c.3450C>G (p.Gly1150=)
c.3012C>G (p.Gly1004=)
n.4280C>G
3g.47000203C>TCA433598233NBEAL2c.4104C>T (p.Gly1368=)
c.4002C>T (p.Gly1334=)
n.441C>T
c.1967C>T
c.576C>T (p.Gly192=)
c.4023C>T (p.Gly1341=)
c.4083C>T (p.Gly1361=)
c.3735C>T (p.Gly1245=)
c.3564C>T (p.Gly1188=)
c.3450C>T (p.Gly1150=)
c.3012C>T (p.Gly1004=)
n.4280C>T
3g.47000204A>CCA352516920NBEAL2c.4105A>C (p.Asn1369His)
c.4003A>C (p.Asn1335His)
n.442A>C
c.1968A>C
c.577A>C (p.Asn193His)
c.4024A>C (p.Asn1342His)
c.4084A>C (p.Asn1362His)
c.3736A>C (p.Asn1246His)
c.3565A>C (p.Asn1189His)
c.3451A>C (p.Asn1151His)
c.3013A>C (p.Asn1005His)
n.4281A>C
3g.47000204A>GCA352516921NBEAL2c.4105A>G (p.Asn1369Asp)
c.4003A>G (p.Asn1335Asp)
n.442A>G
c.1968A>G
c.577A>G (p.Asn193Asp)
c.4024A>G (p.Asn1342Asp)
c.4084A>G (p.Asn1362Asp)
c.3736A>G (p.Asn1246Asp)
c.3565A>G (p.Asn1189Asp)
c.3451A>G (p.Asn1151Asp)
c.3013A>G (p.Asn1005Asp)
n.4281A>G
3g.47000204A>TCA352516922NBEAL2c.4105A>T (p.Asn1369Tyr)
c.4003A>T (p.Asn1335Tyr)
n.442A>T
c.1968A>T
c.577A>T (p.Asn193Tyr)
c.4024A>T (p.Asn1342Tyr)
c.4084A>T (p.Asn1362Tyr)
c.3736A>T (p.Asn1246Tyr)
c.3565A>T (p.Asn1189Tyr)
c.3451A>T (p.Asn1151Tyr)
c.3013A>T (p.Asn1005Tyr)
n.4281A>T
3g.47000205A=CA1362363065NBEAL2c.4106A= (p.Asn1369=)
c.4004A= (p.Asn1335=)
n.443A=
c.1969A=
c.578A= (p.Asn193=)
c.4025A= (p.Asn1342=)
c.4085A= (p.Asn1362=)
c.3737A= (p.Asn1246=)
c.3566A= (p.Asn1189=)
c.3452A= (p.Asn1151=)
c.3014A= (p.Asn1005=)
n.4282A=
3g.47000205A>CCA352516923NBEAL2c.4106A>C (p.Asn1369Thr)
c.4004A>C (p.Asn1335Thr)
n.443A>C
c.1969A>C
c.578A>C (p.Asn193Thr)
c.4025A>C (p.Asn1342Thr)
c.4085A>C (p.Asn1362Thr)
c.3737A>C (p.Asn1246Thr)
c.3566A>C (p.Asn1189Thr)
c.3452A>C (p.Asn1151Thr)
c.3014A>C (p.Asn1005Thr)
n.4282A>C
3g.47000205A>GCA352516924NBEAL2c.4106A>G (p.Asn1369Ser)
c.4004A>G (p.Asn1335Ser)
n.443A>G
c.1969A>G
c.578A>G (p.Asn193Ser)
c.4025A>G (p.Asn1342Ser)
c.4085A>G (p.Asn1362Ser)
c.3737A>G (p.Asn1246Ser)
c.3566A>G (p.Asn1189Ser)
c.3452A>G (p.Asn1151Ser)
c.3014A>G (p.Asn1005Ser)
n.4282A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.47000205A>TCA352516925NBEAL2c.4106A>T (p.Asn1369Ile)
c.4004A>T (p.Asn1335Ile)
n.443A>T
c.1969A>T
c.578A>T (p.Asn193Ile)
c.4025A>T (p.Asn1342Ile)
c.4085A>T (p.Asn1362Ile)
c.3737A>T (p.Asn1246Ile)
c.3566A>T (p.Asn1189Ile)
c.3452A>T (p.Asn1151Ile)
c.3014A>T (p.Asn1005Ile)
n.4282A>T
3g.47000206C>ACA352516926NBEAL2c.4107C>A (p.Asn1369Lys)
c.4005C>A (p.Asn1335Lys)
n.444C>A
c.1970C>A
c.579C>A (p.Asn193Lys)
c.4026C>A (p.Asn1342Lys)
c.4086C>A (p.Asn1362Lys)
c.3738C>A (p.Asn1246Lys)
c.3567C>A (p.Asn1189Lys)
c.3453C>A (p.Asn1151Lys)
c.3015C>A (p.Asn1005Lys)
n.4283C>A
3g.47000206C=CA1362363066NBEAL2c.4107C= (p.Asn1369=)
c.4005C= (p.Asn1335=)
n.444C=
c.1970C=
c.579C= (p.Asn193=)
c.4026C= (p.Asn1342=)
c.4086C= (p.Asn1362=)
c.3738C= (p.Asn1246=)
c.3567C= (p.Asn1189=)
c.3453C= (p.Asn1151=)
c.3015C= (p.Asn1005=)
n.4283C=
3g.47000206C>GCA352516927NBEAL2c.4107C>G (p.Asn1369Lys)
c.4005C>G (p.Asn1335Lys)
n.444C>G
c.1970C>G
c.579C>G (p.Asn193Lys)
c.4026C>G (p.Asn1342Lys)
c.4086C>G (p.Asn1362Lys)
c.3738C>G (p.Asn1246Lys)
c.3567C>G (p.Asn1189Lys)
c.3453C>G (p.Asn1151Lys)
c.3015C>G (p.Asn1005Lys)
n.4283C>G
 dbSNP gnomAD v4
3g.47000206C>TCA2361144NBEAL2c.4107C>T (p.Asn1369=)
c.4005C>T (p.Asn1335=)
n.444C>T
c.1970C>T
c.579C>T (p.Asn193=)
c.4026C>T (p.Asn1342=)
c.4086C>T (p.Asn1362=)
c.3738C>T (p.Asn1246=)
c.3567C>T (p.Asn1189=)
c.3453C>T (p.Asn1151=)
c.3015C>T (p.Asn1005=)
n.4283C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.47000207A=CA1362363067NBEAL2c.4108A= (p.Thr1370=)
c.4006A= (p.Thr1336=)
n.445A=
c.1971A=
c.580A= (p.Thr194=)
c.4027A= (p.Thr1343=)
c.4087A= (p.Thr1363=)
c.3739A= (p.Thr1247=)
c.3568A= (p.Thr1190=)
c.3454A= (p.Thr1152=)
c.3016A= (p.Thr1006=)
n.4284A=
3g.47000207A>CCA352516928NBEAL2c.4108A>C (p.Thr1370Pro)
c.4006A>C (p.Thr1336Pro)
n.445A>C
c.1971A>C
c.580A>C (p.Thr194Pro)
c.4027A>C (p.Thr1343Pro)
c.4087A>C (p.Thr1363Pro)
c.3739A>C (p.Thr1247Pro)
c.3568A>C (p.Thr1190Pro)
c.3454A>C (p.Thr1152Pro)
c.3016A>C (p.Thr1006Pro)
n.4284A>C
3g.47000207A>GCA73817796NBEAL2c.4108A>G (p.Thr1370Ala)
c.4006A>G (p.Thr1336Ala)
n.445A>G
c.1971A>G
c.580A>G (p.Thr194Ala)
c.4027A>G (p.Thr1343Ala)
c.4087A>G (p.Thr1363Ala)
c.3739A>G (p.Thr1247Ala)
c.3568A>G (p.Thr1190Ala)
c.3454A>G (p.Thr1152Ala)
c.3016A>G (p.Thr1006Ala)
n.4284A>G
 dbSNP gnomAD v2 gnomAD v4
3g.47000207A>TCA352516929NBEAL2c.4108A>T (p.Thr1370Ser)
c.4006A>T (p.Thr1336Ser)
n.445A>T
c.1971A>T
c.580A>T (p.Thr194Ser)
c.4027A>T (p.Thr1343Ser)
c.4087A>T (p.Thr1363Ser)
c.3739A>T (p.Thr1247Ser)
c.3568A>T (p.Thr1190Ser)
c.3454A>T (p.Thr1152Ser)
c.3016A>T (p.Thr1006Ser)
n.4284A>T
3g.47000208C>ACA352516930NBEAL2c.4109C>A (p.Thr1370Asn)
c.4007C>A (p.Thr1336Asn)
n.446C>A
c.1972C>A
c.581C>A (p.Thr194Asn)
c.4028C>A (p.Thr1343Asn)
c.4088C>A (p.Thr1363Asn)
c.3740C>A (p.Thr1247Asn)
c.3569C>A (p.Thr1190Asn)
c.3455C>A (p.Thr1152Asn)
c.3017C>A (p.Thr1006Asn)
n.4285C>A
 gnomAD v4
3g.47000208C=CA1362363068NBEAL2c.4109C= (p.Thr1370=)
c.4007C= (p.Thr1336=)
n.446C=
c.1972C=
c.581C= (p.Thr194=)
c.4028C= (p.Thr1343=)
c.4088C= (p.Thr1363=)
c.3740C= (p.Thr1247=)
c.3569C= (p.Thr1190=)
c.3455C= (p.Thr1152=)
c.3017C= (p.Thr1006=)
n.4285C=
3g.47000208C>GCA352516931NBEAL2c.4109C>G (p.Thr1370Ser)
c.4007C>G (p.Thr1336Ser)
n.446C>G
c.1972C>G
c.581C>G (p.Thr194Ser)
c.4028C>G (p.Thr1343Ser)
c.4088C>G (p.Thr1363Ser)
c.3740C>G (p.Thr1247Ser)
c.3569C>G (p.Thr1190Ser)
c.3455C>G (p.Thr1152Ser)
c.3017C>G (p.Thr1006Ser)
n.4285C>G
3g.47000208C>TCA352516932NBEAL2c.4109C>T (p.Thr1370Ile)
c.4007C>T (p.Thr1336Ile)
n.446C>T
c.1972C>T
c.581C>T (p.Thr194Ile)
c.4028C>T (p.Thr1343Ile)
c.4088C>T (p.Thr1363Ile)
c.3740C>T (p.Thr1247Ile)
c.3569C>T (p.Thr1190Ile)
c.3455C>T (p.Thr1152Ile)
c.3017C>T (p.Thr1006Ile)
n.4285C>T
 dbSNP gnomAD v3 gnomAD v4
3g.47000209T>ACA433598241NBEAL2c.4110T>A (p.Thr1370=)
c.4008T>A (p.Thr1336=)
n.447T>A
c.1973T>A
c.582T>A (p.Thr194=)
c.4029T>A (p.Thr1343=)
c.4089T>A (p.Thr1363=)
c.3741T>A (p.Thr1247=)
c.3570T>A (p.Thr1190=)
c.3456T>A (p.Thr1152=)
c.3018T>A (p.Thr1006=)
n.4286T>A
3g.47000209T>CCA433598242NBEAL2c.4110T>C (p.Thr1370=)
c.4008T>C (p.Thr1336=)
n.447T>C
c.1973T>C
c.582T>C (p.Thr194=)
c.4029T>C (p.Thr1343=)
c.4089T>C (p.Thr1363=)
c.3741T>C (p.Thr1247=)
c.3570T>C (p.Thr1190=)
c.3456T>C (p.Thr1152=)
c.3018T>C (p.Thr1006=)
n.4286T>C
 dbSNP
3g.47000209T>GCA433598240NBEAL2c.4110T>G (p.Thr1370=)
c.4008T>G (p.Thr1336=)
n.447T>G
c.1973T>G
c.582T>G (p.Thr194=)
c.4029T>G (p.Thr1343=)
c.4089T>G (p.Thr1363=)
c.3741T>G (p.Thr1247=)
c.3570T>G (p.Thr1190=)
c.3456T>G (p.Thr1152=)
c.3018T>G (p.Thr1006=)
n.4286T>G
3g.47000209T=CA1362363069NBEAL2c.4110T= (p.Thr1370=)
c.4008T= (p.Thr1336=)
n.447T=
c.1973T=
c.582T= (p.Thr194=)
c.4029T= (p.Thr1343=)
c.4089T= (p.Thr1363=)
c.3741T= (p.Thr1247=)
c.3570T= (p.Thr1190=)
c.3456T= (p.Thr1152=)
c.3018T= (p.Thr1006=)
n.4286T=
3g.47000210G>ACA352516933NBEAL2c.4111G>A (p.Ala1371Thr)
c.4009G>A (p.Ala1337Thr)
n.448G>A
c.1974G>A
c.583G>A (p.Ala195Thr)
c.4030G>A (p.Ala1344Thr)
c.4090G>A (p.Ala1364Thr)
c.3742G>A (p.Ala1248Thr)
c.3571G>A (p.Ala1191Thr)
c.3457G>A (p.Ala1153Thr)
c.3019G>A (p.Ala1007Thr)
n.4287G>A
 gnomAD v4
3g.47000210G>CCA352516934NBEAL2c.4111G>C (p.Ala1371Pro)
c.4009G>C (p.Ala1337Pro)
n.448G>C
c.1974G>C
c.583G>C (p.Ala195Pro)
c.4030G>C (p.Ala1344Pro)
c.4090G>C (p.Ala1364Pro)
c.3742G>C (p.Ala1248Pro)
c.3571G>C (p.Ala1191Pro)
c.3457G>C (p.Ala1153Pro)
c.3019G>C (p.Ala1007Pro)
n.4287G>C
3g.47000210G>TCA352516935NBEAL2c.4111G>T (p.Ala1371Ser)
c.4009G>T (p.Ala1337Ser)
n.448G>T
c.1974G>T
c.583G>T (p.Ala195Ser)
c.4030G>T (p.Ala1344Ser)
c.4090G>T (p.Ala1364Ser)
c.3742G>T (p.Ala1248Ser)
c.3571G>T (p.Ala1191Ser)
c.3457G>T (p.Ala1153Ser)
c.3019G>T (p.Ala1007Ser)
n.4287G>T
3g.47000211C>ACA352516936NBEAL2c.4112C>A (p.Ala1371Asp)
c.4010C>A (p.Ala1337Asp)
n.449C>A
c.1975C>A
c.584C>A (p.Ala195Asp)
c.4031C>A (p.Ala1344Asp)
c.4091C>A (p.Ala1364Asp)
c.3743C>A (p.Ala1248Asp)
c.3572C>A (p.Ala1191Asp)
c.3458C>A (p.Ala1153Asp)
c.3020C>A (p.Ala1007Asp)
n.4288C>A
3g.47000211C>GCA352516937NBEAL2c.4112C>G (p.Ala1371Gly)
c.4010C>G (p.Ala1337Gly)
n.449C>G
c.1975C>G
c.584C>G (p.Ala195Gly)
c.4031C>G (p.Ala1344Gly)
c.4091C>G (p.Ala1364Gly)
c.3743C>G (p.Ala1248Gly)
c.3572C>G (p.Ala1191Gly)
c.3458C>G (p.Ala1153Gly)
c.3020C>G (p.Ala1007Gly)
n.4288C>G
3g.47000211C>TCA352516938NBEAL2c.4112C>T (p.Ala1371Val)
c.4010C>T (p.Ala1337Val)
n.449C>T
c.1975C>T
c.584C>T (p.Ala195Val)
c.4031C>T (p.Ala1344Val)
c.4091C>T (p.Ala1364Val)
c.3743C>T (p.Ala1248Val)
c.3572C>T (p.Ala1191Val)
c.3458C>T (p.Ala1153Val)
c.3020C>T (p.Ala1007Val)
n.4288C>T
3g.47000212T>ACA433598246NBEAL2c.4113T>A (p.Ala1371=)
c.4011T>A (p.Ala1337=)
n.450T>A
c.1976T>A
c.585T>A (p.Ala195=)
c.4032T>A (p.Ala1344=)
c.4092T>A (p.Ala1364=)
c.3744T>A (p.Ala1248=)
c.3573T>A (p.Ala1191=)
c.3459T>A (p.Ala1153=)
c.3021T>A (p.Ala1007=)
n.4289T>A
3g.47000212T>CCA433598243NBEAL2c.4113T>C (p.Ala1371=)
c.4011T>C (p.Ala1337=)
n.450T>C
c.1976T>C
c.585T>C (p.Ala195=)
c.4032T>C (p.Ala1344=)
c.4092T>C (p.Ala1364=)
c.3744T>C (p.Ala1248=)
c.3573T>C (p.Ala1191=)
c.3459T>C (p.Ala1153=)
c.3021T>C (p.Ala1007=)
n.4289T>C
3g.47000212T>GCA433598245NBEAL2c.4113T>G (p.Ala1371=)
c.4011T>G (p.Ala1337=)
n.450T>G
c.1976T>G
c.585T>G (p.Ala195=)
c.4032T>G (p.Ala1344=)
c.4092T>G (p.Ala1364=)
c.3744T>G (p.Ala1248=)
c.3573T>G (p.Ala1191=)
c.3459T>G (p.Ala1153=)
c.3021T>G (p.Ala1007=)
n.4289T>G
3g.47000213G>ACA352516941NBEAL2c.4114G>A (p.Gly1372Ser)
c.4012G>A (p.Gly1338Ser)
n.451G>A
c.1977G>A
c.586G>A (p.Gly196Ser)
c.4033G>A (p.Gly1345Ser)
c.4093G>A (p.Gly1365Ser)
c.3745G>A (p.Gly1249Ser)
c.3574G>A (p.Gly1192Ser)
c.3460G>A (p.Gly1154Ser)
c.3022G>A (p.Gly1008Ser)
n.4290G>A
3g.47000213G>CCA352516939NBEAL2c.4114G>C (p.Gly1372Arg)
c.4012G>C (p.Gly1338Arg)
n.451G>C
c.1977G>C
c.586G>C (p.Gly196Arg)
c.4033G>C (p.Gly1345Arg)
c.4093G>C (p.Gly1365Arg)
c.3745G>C (p.Gly1249Arg)
c.3574G>C (p.Gly1192Arg)
c.3460G>C (p.Gly1154Arg)
c.3022G>C (p.Gly1008Arg)
n.4290G>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.47000213G=CA1362363070NBEAL2c.4114G= (p.Gly1372=)
c.4012G= (p.Gly1338=)
n.451G=
c.1977G=
c.586G= (p.Gly196=)
c.4033G= (p.Gly1345=)
c.4093G= (p.Gly1365=)
c.3745G= (p.Gly1249=)
c.3574G= (p.Gly1192=)
c.3460G= (p.Gly1154=)
c.3022G= (p.Gly1008=)
n.4290G=
3g.47000213G>TCA352516940NBEAL2c.4114G>T (p.Gly1372Cys)
c.4012G>T (p.Gly1338Cys)
n.451G>T
c.1977G>T
c.586G>T (p.Gly196Cys)
c.4033G>T (p.Gly1345Cys)
c.4093G>T (p.Gly1365Cys)
c.3745G>T (p.Gly1249Cys)
c.3574G>T (p.Gly1192Cys)
c.3460G>T (p.Gly1154Cys)
c.3022G>T (p.Gly1008Cys)
n.4290G>T
3g.47000214G>ACA73817798NBEAL2c.4115G>A (p.Gly1372Asp)
c.4013G>A (p.Gly1338Asp)
n.452G>A
c.1978G>A
c.587G>A (p.Gly196Asp)
c.4034G>A (p.Gly1345Asp)
c.4094G>A (p.Gly1365Asp)
c.3746G>A (p.Gly1249Asp)
c.3575G>A (p.Gly1192Asp)
c.3461G>A (p.Gly1154Asp)
c.3023G>A (p.Gly1008Asp)
n.4291G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.47000214G>CCA352516942NBEAL2c.4115G>C (p.Gly1372Ala)
c.4013G>C (p.Gly1338Ala)
n.452G>C
c.1978G>C
c.587G>C (p.Gly196Ala)
c.4034G>C (p.Gly1345Ala)
c.4094G>C (p.Gly1365Ala)
c.3746G>C (p.Gly1249Ala)
c.3575G>C (p.Gly1192Ala)
c.3461G>C (p.Gly1154Ala)
c.3023G>C (p.Gly1008Ala)
n.4291G>C
3g.47000214G=CA1362363071NBEAL2c.4115G= (p.Gly1372=)
c.4013G= (p.Gly1338=)
n.452G=
c.1978G=
c.587G= (p.Gly196=)
c.4034G= (p.Gly1345=)
c.4094G= (p.Gly1365=)
c.3746G= (p.Gly1249=)
c.3575G= (p.Gly1192=)
c.3461G= (p.Gly1154=)
c.3023G= (p.Gly1008=)
n.4291G=
3g.47000214G>TCA2361145NBEAL2c.4115G>T (p.Gly1372Val)
c.4013G>T (p.Gly1338Val)
n.452G>T
c.1978G>T
c.587G>T (p.Gly196Val)
c.4034G>T (p.Gly1345Val)
c.4094G>T (p.Gly1365Val)
c.3746G>T (p.Gly1249Val)
c.3575G>T (p.Gly1192Val)
c.3461G>T (p.Gly1154Val)
c.3023G>T (p.Gly1008Val)
n.4291G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.47000215T>ACA433598250NBEAL2c.4116T>A (p.Gly1372=)
c.4014T>A (p.Gly1338=)
n.453T>A
c.1979T>A
c.588T>A (p.Gly196=)
c.4035T>A (p.Gly1345=)
c.4095T>A (p.Gly1365=)
c.3747T>A (p.Gly1249=)
c.3576T>A (p.Gly1192=)
c.3462T>A (p.Gly1154=)
c.3024T>A (p.Gly1008=)
n.4292T>A
3g.47000215T>CCA433598252NBEAL2c.4116T>C (p.Gly1372=)
c.4014T>C (p.Gly1338=)
n.453T>C
c.1979T>C
c.588T>C (p.Gly196=)
c.4035T>C (p.Gly1345=)
c.4095T>C (p.Gly1365=)
c.3747T>C (p.Gly1249=)
c.3576T>C (p.Gly1192=)
c.3462T>C (p.Gly1154=)
c.3024T>C (p.Gly1008=)
n.4292T>C
3g.47000215T>GCA433598248NBEAL2c.4116T>G (p.Gly1372=)
c.4014T>G (p.Gly1338=)
n.453T>G
c.1979T>G
c.588T>G (p.Gly196=)
c.4035T>G (p.Gly1345=)
c.4095T>G (p.Gly1365=)
c.3747T>G (p.Gly1249=)
c.3576T>G (p.Gly1192=)
c.3462T>G (p.Gly1154=)
c.3024T>G (p.Gly1008=)
n.4292T>G
3g.47000216G>ACA352516943NBEAL2c.4117G>A (p.Gly1373Ser)
c.4015G>A (p.Gly1339Ser)
n.454G>A
c.1980G>A
c.589G>A (p.Gly197Ser)
c.4036G>A (p.Gly1346Ser)
c.4096G>A (p.Gly1366Ser)
c.3748G>A (p.Gly1250Ser)
c.3577G>A (p.Gly1193Ser)
c.3463G>A (p.Gly1155Ser)
c.3025G>A (p.Gly1009Ser)
n.4293G>A
 dbSNP
3g.47000216G>CCA2361146NBEAL2c.4117G>C (p.Gly1373Arg)
c.4015G>C (p.Gly1339Arg)
n.454G>C
c.1980G>C
c.589G>C (p.Gly197Arg)
c.4036G>C (p.Gly1346Arg)
c.4096G>C (p.Gly1366Arg)
c.3748G>C (p.Gly1250Arg)
c.3577G>C (p.Gly1193Arg)
c.3463G>C (p.Gly1155Arg)
c.3025G>C (p.Gly1009Arg)
n.4293G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.47000216G=CA1362363072NBEAL2c.4117G= (p.Gly1373=)
c.4015G= (p.Gly1339=)
n.454G=
c.1980G=
c.589G= (p.Gly197=)
c.4036G= (p.Gly1346=)
c.4096G= (p.Gly1366=)
c.3748G= (p.Gly1250=)
c.3577G= (p.Gly1193=)
c.3463G= (p.Gly1155=)
c.3025G= (p.Gly1009=)
n.4293G=
3g.47000216G>TCA352516944NBEAL2c.4117G>T (p.Gly1373Cys)
c.4015G>T (p.Gly1339Cys)
n.454G>T
c.1980G>T
c.589G>T (p.Gly197Cys)
c.4036G>T (p.Gly1346Cys)
c.4096G>T (p.Gly1366Cys)
c.3748G>T (p.Gly1250Cys)
c.3577G>T (p.Gly1193Cys)
c.3463G>T (p.Gly1155Cys)
c.3025G>T (p.Gly1009Cys)
n.4293G>T
3g.47000217G>ACA352516945NBEAL2c.4118G>A (p.Gly1373Asp)
c.4016G>A (p.Gly1339Asp)
n.455G>A
c.1981G>A
c.590G>A (p.Gly197Asp)
c.4037G>A (p.Gly1346Asp)
c.4097G>A (p.Gly1366Asp)
c.3749G>A (p.Gly1250Asp)
c.3578G>A (p.Gly1193Asp)
c.3464G>A (p.Gly1155Asp)
c.3026G>A (p.Gly1009Asp)
n.4294G>A
3g.47000217G>CCA352516946NBEAL2c.4118G>C (p.Gly1373Ala)
c.4016G>C (p.Gly1339Ala)
n.455G>C
c.1981G>C
c.590G>C (p.Gly197Ala)
c.4037G>C (p.Gly1346Ala)
c.4097G>C (p.Gly1366Ala)
c.3749G>C (p.Gly1250Ala)
c.3578G>C (p.Gly1193Ala)
c.3464G>C (p.Gly1155Ala)
c.3026G>C (p.Gly1009Ala)
n.4294G>C
3g.47000217G>TCA352516947NBEAL2c.4118G>T (p.Gly1373Val)
c.4016G>T (p.Gly1339Val)
n.455G>T
c.1981G>T
c.590G>T (p.Gly197Val)
c.4037G>T (p.Gly1346Val)
c.4097G>T (p.Gly1366Val)
c.3749G>T (p.Gly1250Val)
c.3578G>T (p.Gly1193Val)
c.3464G>T (p.Gly1155Val)
c.3026G>T (p.Gly1009Val)
n.4294G>T

Number of alleles fetched