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.47000079A=CA1362363010NBEAL2c.3980A= (p.Glu1327=)
c.3878A= (p.Glu1293=)
n.317A=
c.1960-117A=
c.452A= (p.Glu151=)
c.3899A= (p.Glu1300=)
c.3959A= (p.Glu1320=)
c.3611A= (p.Glu1204=)
c.3440A= (p.Glu1147=)
c.3326A= (p.Glu1109=)
c.2888A= (p.Glu963=)
n.4156A=
3g.47000079A>CCA352516638NBEAL2c.3980A>C (p.Glu1327Ala)
c.3878A>C (p.Glu1293Ala)
n.317A>C
c.1960-117A>C
c.452A>C (p.Glu151Ala)
c.3899A>C (p.Glu1300Ala)
c.3959A>C (p.Glu1320Ala)
c.3611A>C (p.Glu1204Ala)
c.3440A>C (p.Glu1147Ala)
c.3326A>C (p.Glu1109Ala)
c.2888A>C (p.Glu963Ala)
n.4156A>C
3g.47000079A>GCA2361119NBEAL2c.3980A>G (p.Glu1327Gly)
c.3878A>G (p.Glu1293Gly)
n.317A>G
c.1960-117A>G
c.452A>G (p.Glu151Gly)
c.3899A>G (p.Glu1300Gly)
c.3959A>G (p.Glu1320Gly)
c.3611A>G (p.Glu1204Gly)
c.3440A>G (p.Glu1147Gly)
c.3326A>G (p.Glu1109Gly)
c.2888A>G (p.Glu963Gly)
n.4156A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.47000079A>TCA352516643NBEAL2c.3980A>T (p.Glu1327Val)
c.3878A>T (p.Glu1293Val)
n.317A>T
c.1960-117A>T
c.452A>T (p.Glu151Val)
c.3899A>T (p.Glu1300Val)
c.3959A>T (p.Glu1320Val)
c.3611A>T (p.Glu1204Val)
c.3440A>T (p.Glu1147Val)
c.3326A>T (p.Glu1109Val)
c.2888A>T (p.Glu963Val)
n.4156A>T
3g.47000080G>ACA433598267NBEAL2c.3981G>A (p.Glu1327=)
c.3879G>A (p.Glu1293=)
n.318G>A
c.1960-116G>A
c.453G>A (p.Glu151=)
c.3900G>A (p.Glu1300=)
c.3960G>A (p.Glu1320=)
c.3612G>A (p.Glu1204=)
c.3441G>A (p.Glu1147=)
c.3327G>A (p.Glu1109=)
c.2889G>A (p.Glu963=)
n.4157G>A
 gnomAD v4
3g.47000080G>CCA352516645NBEAL2c.3981G>C (p.Glu1327Asp)
c.3879G>C (p.Glu1293Asp)
n.318G>C
c.1960-116G>C
c.453G>C (p.Glu151Asp)
c.3900G>C (p.Glu1300Asp)
c.3960G>C (p.Glu1320Asp)
c.3612G>C (p.Glu1204Asp)
c.3441G>C (p.Glu1147Asp)
c.3327G>C (p.Glu1109Asp)
c.2889G>C (p.Glu963Asp)
n.4157G>C
3g.47000080G>TCA352516647NBEAL2c.3981G>T (p.Glu1327Asp)
c.3879G>T (p.Glu1293Asp)
n.318G>T
c.1960-116G>T
c.453G>T (p.Glu151Asp)
c.3900G>T (p.Glu1300Asp)
c.3960G>T (p.Glu1320Asp)
c.3612G>T (p.Glu1204Asp)
c.3441G>T (p.Glu1147Asp)
c.3327G>T (p.Glu1109Asp)
c.2889G>T (p.Glu963Asp)
n.4157G>T
3g.47000081C>ACA352516650NBEAL2c.3982C>A (p.Pro1328Thr)
c.3880C>A (p.Pro1294Thr)
n.319C>A
c.1960-115C>A
c.454C>A (p.Pro152Thr)
c.3901C>A (p.Pro1301Thr)
c.3961C>A (p.Pro1321Thr)
c.3613C>A (p.Pro1205Thr)
c.3442C>A (p.Pro1148Thr)
c.3328C>A (p.Pro1110Thr)
c.2890C>A (p.Pro964Thr)
n.4158C>A
 gnomAD v4
3g.47000081C=CA1362363011NBEAL2c.3982C= (p.Pro1328=)
c.3880C= (p.Pro1294=)
n.319C=
c.1960-115C=
c.454C= (p.Pro152=)
c.3901C= (p.Pro1301=)
c.3961C= (p.Pro1321=)
c.3613C= (p.Pro1205=)
c.3442C= (p.Pro1148=)
c.3328C= (p.Pro1110=)
c.2890C= (p.Pro964=)
n.4158C=
3g.47000081C>GCA352516653NBEAL2c.3982C>G (p.Pro1328Ala)
c.3880C>G (p.Pro1294Ala)
n.319C>G
c.1960-115C>G
c.454C>G (p.Pro152Ala)
c.3901C>G (p.Pro1301Ala)
c.3961C>G (p.Pro1321Ala)
c.3613C>G (p.Pro1205Ala)
c.3442C>G (p.Pro1148Ala)
c.3328C>G (p.Pro1110Ala)
c.2890C>G (p.Pro964Ala)
n.4158C>G
3g.47000081C>TCA2361120NBEAL2c.3982C>T (p.Pro1328Ser)
c.3880C>T (p.Pro1294Ser)
n.319C>T
c.1960-115C>T
c.454C>T (p.Pro152Ser)
c.3901C>T (p.Pro1301Ser)
c.3961C>T (p.Pro1321Ser)
c.3613C>T (p.Pro1205Ser)
c.3442C>T (p.Pro1148Ser)
c.3328C>T (p.Pro1110Ser)
c.2890C>T (p.Pro964Ser)
n.4158C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.47000082C>ACA352516655NBEAL2c.3983C>A (p.Pro1328His)
c.3881C>A (p.Pro1294His)
n.320C>A
c.1960-114C>A
c.455C>A (p.Pro152His)
c.3902C>A (p.Pro1301His)
c.3962C>A (p.Pro1321His)
c.3614C>A (p.Pro1205His)
c.3443C>A (p.Pro1148His)
c.3329C>A (p.Pro1110His)
c.2891C>A (p.Pro964His)
n.4159C>A
3g.47000082C=CA1362363012NBEAL2c.3983C= (p.Pro1328=)
c.3881C= (p.Pro1294=)
n.320C=
c.1960-114C=
c.455C= (p.Pro152=)
c.3902C= (p.Pro1301=)
c.3962C= (p.Pro1321=)
c.3614C= (p.Pro1205=)
c.3443C= (p.Pro1148=)
c.3329C= (p.Pro1110=)
c.2891C= (p.Pro964=)
n.4159C=
3g.47000082C>GCA352516658NBEAL2c.3983C>G (p.Pro1328Arg)
c.3881C>G (p.Pro1294Arg)
n.320C>G
c.1960-114C>G
c.455C>G (p.Pro152Arg)
c.3902C>G (p.Pro1301Arg)
c.3962C>G (p.Pro1321Arg)
c.3614C>G (p.Pro1205Arg)
c.3443C>G (p.Pro1148Arg)
c.3329C>G (p.Pro1110Arg)
c.2891C>G (p.Pro964Arg)
n.4159C>G
3g.47000082C>TCA352516657NBEAL2c.3983C>T (p.Pro1328Leu)
c.3881C>T (p.Pro1294Leu)
n.320C>T
c.1960-114C>T
c.455C>T (p.Pro152Leu)
c.3902C>T (p.Pro1301Leu)
c.3962C>T (p.Pro1321Leu)
c.3614C>T (p.Pro1205Leu)
c.3443C>T (p.Pro1148Leu)
c.3329C>T (p.Pro1110Leu)
c.2891C>T (p.Pro964Leu)
n.4159C>T
 dbSNP gnomAD v2 gnomAD v4
3g.47000083T>ACA433598269NBEAL2c.3984T>A (p.Pro1328=)
c.3882T>A (p.Pro1294=)
n.321T>A
c.1960-113T>A
c.456T>A (p.Pro152=)
c.3903T>A (p.Pro1301=)
c.3963T>A (p.Pro1321=)
c.3615T>A (p.Pro1205=)
c.3444T>A (p.Pro1148=)
c.3330T>A (p.Pro1110=)
c.2892T>A (p.Pro964=)
n.4160T>A
3g.47000083T>CCA433598270NBEAL2c.3984T>C (p.Pro1328=)
c.3882T>C (p.Pro1294=)
n.321T>C
c.1960-113T>C
c.456T>C (p.Pro152=)
c.3903T>C (p.Pro1301=)
c.3963T>C (p.Pro1321=)
c.3615T>C (p.Pro1205=)
c.3444T>C (p.Pro1148=)
c.3330T>C (p.Pro1110=)
c.2892T>C (p.Pro964=)
n.4160T>C
3g.47000083T>GCA433598271NBEAL2c.3984T>G (p.Pro1328=)
c.3882T>G (p.Pro1294=)
n.321T>G
c.1960-113T>G
c.456T>G (p.Pro152=)
c.3903T>G (p.Pro1301=)
c.3963T>G (p.Pro1321=)
c.3615T>G (p.Pro1205=)
c.3444T>G (p.Pro1148=)
c.3330T>G (p.Pro1110=)
c.2892T>G (p.Pro964=)
n.4160T>G
3g.47000084T>ACA352516661NBEAL2c.3985T>A (p.Ser1329Thr)
c.3883T>A (p.Ser1295Thr)
n.322T>A
c.1960-112T>A
c.457T>A (p.Ser153Thr)
c.3904T>A (p.Ser1302Thr)
c.3964T>A (p.Ser1322Thr)
c.3616T>A (p.Ser1206Thr)
c.3445T>A (p.Ser1149Thr)
c.3331T>A (p.Ser1111Thr)
c.2893T>A (p.Ser965Thr)
n.4161T>A
3g.47000084T>CCA352516663NBEAL2c.3985T>C (p.Ser1329Pro)
c.3883T>C (p.Ser1295Pro)
n.322T>C
c.1960-112T>C
c.457T>C (p.Ser153Pro)
c.3904T>C (p.Ser1302Pro)
c.3964T>C (p.Ser1322Pro)
c.3616T>C (p.Ser1206Pro)
c.3445T>C (p.Ser1149Pro)
c.3331T>C (p.Ser1111Pro)
c.2893T>C (p.Ser965Pro)
n.4161T>C
3g.47000084T>GCA352516665NBEAL2c.3985T>G (p.Ser1329Ala)
c.3883T>G (p.Ser1295Ala)
n.322T>G
c.1960-112T>G
c.457T>G (p.Ser153Ala)
c.3904T>G (p.Ser1302Ala)
c.3964T>G (p.Ser1322Ala)
c.3616T>G (p.Ser1206Ala)
c.3445T>G (p.Ser1149Ala)
c.3331T>G (p.Ser1111Ala)
c.2893T>G (p.Ser965Ala)
n.4161T>G
3g.47000085C>ACA352516667NBEAL2c.3986C>A (p.Ser1329Ter)
c.3884C>A (p.Ser1295Ter)
n.323C>A
c.1960-111C>A
c.458C>A (p.Ser153Ter)
c.3905C>A (p.Ser1302Ter)
c.3965C>A (p.Ser1322Ter)
c.3617C>A (p.Ser1206Ter)
c.3446C>A (p.Ser1149Ter)
c.3332C>A (p.Ser1111Ter)
c.2894C>A (p.Ser965Ter)
n.4162C>A
3g.47000085C=CA1362363013NBEAL2c.3986C= (p.Ser1329=)
c.3884C= (p.Ser1295=)
n.323C=
c.1960-111C=
c.458C= (p.Ser153=)
c.3905C= (p.Ser1302=)
c.3965C= (p.Ser1322=)
c.3617C= (p.Ser1206=)
c.3446C= (p.Ser1149=)
c.3332C= (p.Ser1111=)
c.2894C= (p.Ser965=)
n.4162C=
3g.47000085C>GCA352516669NBEAL2c.3986C>G (p.Ser1329Ter)
c.3884C>G (p.Ser1295Ter)
n.323C>G
c.1960-111C>G
c.458C>G (p.Ser153Ter)
c.3905C>G (p.Ser1302Ter)
c.3965C>G (p.Ser1322Ter)
c.3617C>G (p.Ser1206Ter)
c.3446C>G (p.Ser1149Ter)
c.3332C>G (p.Ser1111Ter)
c.2894C>G (p.Ser965Ter)
n.4162C>G
3g.47000085C>TCA352516671NBEAL2c.3986C>T (p.Ser1329Leu)
c.3884C>T (p.Ser1295Leu)
n.323C>T
c.1960-111C>T
c.458C>T (p.Ser153Leu)
c.3905C>T (p.Ser1302Leu)
c.3965C>T (p.Ser1322Leu)
c.3617C>T (p.Ser1206Leu)
c.3446C>T (p.Ser1149Leu)
c.3332C>T (p.Ser1111Leu)
c.2894C>T (p.Ser965Leu)
n.4162C>T
 dbSNP
3g.47000086A>CCA433598275NBEAL2c.3987A>C (p.Ser1329=)
c.3885A>C (p.Ser1295=)
n.324A>C
c.1960-110A>C
c.459A>C (p.Ser153=)
c.3906A>C (p.Ser1302=)
c.3966A>C (p.Ser1322=)
c.3618A>C (p.Ser1206=)
c.3447A>C (p.Ser1149=)
c.3333A>C (p.Ser1111=)
c.2895A>C (p.Ser965=)
n.4163A>C
3g.47000086A>GCA433598274NBEAL2c.3987A>G (p.Ser1329=)
c.3885A>G (p.Ser1295=)
n.324A>G
c.1960-110A>G
c.459A>G (p.Ser153=)
c.3906A>G (p.Ser1302=)
c.3966A>G (p.Ser1322=)
c.3618A>G (p.Ser1206=)
c.3447A>G (p.Ser1149=)
c.3333A>G (p.Ser1111=)
c.2895A>G (p.Ser965=)
n.4163A>G
3g.47000086A>TCA433598273NBEAL2c.3987A>T (p.Ser1329=)
c.3885A>T (p.Ser1295=)
n.324A>T
c.1960-110A>T
c.459A>T (p.Ser153=)
c.3906A>T (p.Ser1302=)
c.3966A>T (p.Ser1322=)
c.3618A>T (p.Ser1206=)
c.3447A>T (p.Ser1149=)
c.3333A>T (p.Ser1111=)
c.2895A>T (p.Ser965=)
n.4163A>T
3g.47000087G>ACA352516672NBEAL2c.3988G>A (p.Asp1330Asn)
c.3886G>A (p.Asp1296Asn)
n.325G>A
c.1960-109G>A
c.460G>A (p.Asp154Asn)
c.3907G>A (p.Asp1303Asn)
c.3967G>A (p.Asp1323Asn)
c.3619G>A (p.Asp1207Asn)
c.3448G>A (p.Asp1150Asn)
c.3334G>A (p.Asp1112Asn)
c.2896G>A (p.Asp966Asn)
n.4164G>A
3g.47000087G>CCA352516673NBEAL2c.3988G>C (p.Asp1330His)
c.3886G>C (p.Asp1296His)
n.325G>C
c.1960-109G>C
c.460G>C (p.Asp154His)
c.3907G>C (p.Asp1303His)
c.3967G>C (p.Asp1323His)
c.3619G>C (p.Asp1207His)
c.3448G>C (p.Asp1150His)
c.3334G>C (p.Asp1112His)
c.2896G>C (p.Asp966His)
n.4164G>C
3g.47000087G>TCA352516675NBEAL2c.3988G>T (p.Asp1330Tyr)
c.3886G>T (p.Asp1296Tyr)
n.325G>T
c.1960-109G>T
c.460G>T (p.Asp154Tyr)
c.3907G>T (p.Asp1303Tyr)
c.3967G>T (p.Asp1323Tyr)
c.3619G>T (p.Asp1207Tyr)
c.3448G>T (p.Asp1150Tyr)
c.3334G>T (p.Asp1112Tyr)
c.2896G>T (p.Asp966Tyr)
n.4164G>T
3g.47000088A>CCA352516677NBEAL2c.3989A>C (p.Asp1330Ala)
c.3887A>C (p.Asp1296Ala)
n.326A>C
c.1960-108A>C
c.461A>C (p.Asp154Ala)
c.3908A>C (p.Asp1303Ala)
c.3968A>C (p.Asp1323Ala)
c.3620A>C (p.Asp1207Ala)
c.3449A>C (p.Asp1150Ala)
c.3335A>C (p.Asp1112Ala)
c.2897A>C (p.Asp966Ala)
n.4165A>C
3g.47000088A>GCA352516679NBEAL2c.3989A>G (p.Asp1330Gly)
c.3887A>G (p.Asp1296Gly)
n.326A>G
c.1960-108A>G
c.461A>G (p.Asp154Gly)
c.3908A>G (p.Asp1303Gly)
c.3968A>G (p.Asp1323Gly)
c.3620A>G (p.Asp1207Gly)
c.3449A>G (p.Asp1150Gly)
c.3335A>G (p.Asp1112Gly)
c.2897A>G (p.Asp966Gly)
n.4165A>G
3g.47000088A>TCA352516681NBEAL2c.3989A>T (p.Asp1330Val)
c.3887A>T (p.Asp1296Val)
n.326A>T
c.1960-108A>T
c.461A>T (p.Asp154Val)
c.3908A>T (p.Asp1303Val)
c.3968A>T (p.Asp1323Val)
c.3620A>T (p.Asp1207Val)
c.3449A>T (p.Asp1150Val)
c.3335A>T (p.Asp1112Val)
c.2897A>T (p.Asp966Val)
n.4165A>T
3g.47000089T>ACA352516683NBEAL2c.3990T>A (p.Asp1330Glu)
c.3888T>A (p.Asp1296Glu)
n.327T>A
c.1960-107T>A
c.462T>A (p.Asp154Glu)
c.3909T>A (p.Asp1303Glu)
c.3969T>A (p.Asp1323Glu)
c.3621T>A (p.Asp1207Glu)
c.3450T>A (p.Asp1150Glu)
c.3336T>A (p.Asp1112Glu)
c.2898T>A (p.Asp966Glu)
n.4166T>A
3g.47000089T>CCA2361121NBEAL2c.3990T>C (p.Asp1330=)
c.3888T>C (p.Asp1296=)
n.327T>C
c.1960-107T>C
c.462T>C (p.Asp154=)
c.3909T>C (p.Asp1303=)
c.3969T>C (p.Asp1323=)
c.3621T>C (p.Asp1207=)
c.3450T>C (p.Asp1150=)
c.3336T>C (p.Asp1112=)
c.2898T>C (p.Asp966=)
n.4166T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.47000089T>GCA352516682NBEAL2c.3990T>G (p.Asp1330Glu)
c.3888T>G (p.Asp1296Glu)
n.327T>G
c.1960-107T>G
c.462T>G (p.Asp154Glu)
c.3909T>G (p.Asp1303Glu)
c.3969T>G (p.Asp1323Glu)
c.3621T>G (p.Asp1207Glu)
c.3450T>G (p.Asp1150Glu)
c.3336T>G (p.Asp1112Glu)
c.2898T>G (p.Asp966Glu)
n.4166T>G
3g.47000089T=CA1362363014NBEAL2c.3990T= (p.Asp1330=)
c.3888T= (p.Asp1296=)
n.327T=
c.1960-107T=
c.462T= (p.Asp154=)
c.3909T= (p.Asp1303=)
c.3969T= (p.Asp1323=)
c.3621T= (p.Asp1207=)
c.3450T= (p.Asp1150=)
c.3336T= (p.Asp1112=)
c.2898T= (p.Asp966=)
n.4166T=
3g.47000090G>ACA352516684NBEAL2c.3991G>A (p.Val1331Ile)
c.3889G>A (p.Val1297Ile)
n.328G>A
c.1960-106G>A
c.463G>A (p.Val155Ile)
c.3910G>A (p.Val1304Ile)
c.3970G>A (p.Val1324Ile)
c.3622G>A (p.Val1208Ile)
c.3451G>A (p.Val1151Ile)
c.3337G>A (p.Val1113Ile)
c.2899G>A (p.Val967Ile)
n.4167G>A
 gnomAD v4
3g.47000090G>CCA352516685NBEAL2c.3991G>C (p.Val1331Leu)
c.3889G>C (p.Val1297Leu)
n.328G>C
c.1960-106G>C
c.463G>C (p.Val155Leu)
c.3910G>C (p.Val1304Leu)
c.3970G>C (p.Val1324Leu)
c.3622G>C (p.Val1208Leu)
c.3451G>C (p.Val1151Leu)
c.3337G>C (p.Val1113Leu)
c.2899G>C (p.Val967Leu)
n.4167G>C
3g.47000090G>TCA352516686NBEAL2c.3991G>T (p.Val1331Phe)
c.3889G>T (p.Val1297Phe)
n.328G>T
c.1960-106G>T
c.463G>T (p.Val155Phe)
c.3910G>T (p.Val1304Phe)
c.3970G>T (p.Val1324Phe)
c.3622G>T (p.Val1208Phe)
c.3451G>T (p.Val1151Phe)
c.3337G>T (p.Val1113Phe)
c.2899G>T (p.Val967Phe)
n.4167G>T
 gnomAD v4
3g.47000091T>ACA352516687NBEAL2c.3992T>A (p.Val1331Asp)
c.3890T>A (p.Val1297Asp)
n.329T>A
c.1960-105T>A
c.464T>A (p.Val155Asp)
c.3911T>A (p.Val1304Asp)
c.3971T>A (p.Val1324Asp)
c.3623T>A (p.Val1208Asp)
c.3452T>A (p.Val1151Asp)
c.3338T>A (p.Val1113Asp)
c.2900T>A (p.Val967Asp)
n.4168T>A
3g.47000091T>CCA352516688NBEAL2c.3992T>C (p.Val1331Ala)
c.3890T>C (p.Val1297Ala)
n.329T>C
c.1960-105T>C
c.464T>C (p.Val155Ala)
c.3911T>C (p.Val1304Ala)
c.3971T>C (p.Val1324Ala)
c.3623T>C (p.Val1208Ala)
c.3452T>C (p.Val1151Ala)
c.3338T>C (p.Val1113Ala)
c.2900T>C (p.Val967Ala)
n.4168T>C
3g.47000091T>GCA352516689NBEAL2c.3992T>G (p.Val1331Gly)
c.3890T>G (p.Val1297Gly)
n.329T>G
c.1960-105T>G
c.464T>G (p.Val155Gly)
c.3911T>G (p.Val1304Gly)
c.3971T>G (p.Val1324Gly)
c.3623T>G (p.Val1208Gly)
c.3452T>G (p.Val1151Gly)
c.3338T>G (p.Val1113Gly)
c.2900T>G (p.Val967Gly)
n.4168T>G
3g.47000092C>ACA433598283NBEAL2c.3993C>A (p.Val1331=)
c.3891C>A (p.Val1297=)
n.330C>A
c.1960-104C>A
c.465C>A (p.Val155=)
c.3912C>A (p.Val1304=)
c.3972C>A (p.Val1324=)
c.3624C>A (p.Val1208=)
c.3453C>A (p.Val1151=)
c.3339C>A (p.Val1113=)
c.2901C>A (p.Val967=)
n.4169C>A
3g.47000092C=CA1362363015NBEAL2c.3993C= (p.Val1331=)
c.3891C= (p.Val1297=)
n.330C=
c.1960-104C=
c.465C= (p.Val155=)
c.3912C= (p.Val1304=)
c.3972C= (p.Val1324=)
c.3624C= (p.Val1208=)
c.3453C= (p.Val1151=)
c.3339C= (p.Val1113=)
c.2901C= (p.Val967=)
n.4169C=
3g.47000092C>GCA433598281NBEAL2c.3993C>G (p.Val1331=)
c.3891C>G (p.Val1297=)
n.330C>G
c.1960-104C>G
c.465C>G (p.Val155=)
c.3912C>G (p.Val1304=)
c.3972C>G (p.Val1324=)
c.3624C>G (p.Val1208=)
c.3453C>G (p.Val1151=)
c.3339C>G (p.Val1113=)
c.2901C>G (p.Val967=)
n.4169C>G
3g.47000092C>TCA433598282NBEAL2c.3993C>T (p.Val1331=)
c.3891C>T (p.Val1297=)
n.330C>T
c.1960-104C>T
c.465C>T (p.Val155=)
c.3912C>T (p.Val1304=)
c.3972C>T (p.Val1324=)
c.3624C>T (p.Val1208=)
c.3453C>T (p.Val1151=)
c.3339C>T (p.Val1113=)
c.2901C>T (p.Val967=)
n.4169C>T
 dbSNP
3g.47000093T>ACA352516690NBEAL2c.3994T>A (p.Phe1332Ile)
c.3892T>A (p.Phe1298Ile)
n.331T>A
c.1960-103T>A
c.466T>A (p.Phe156Ile)
c.3913T>A (p.Phe1305Ile)
c.3973T>A (p.Phe1325Ile)
c.3625T>A (p.Phe1209Ile)
c.3454T>A (p.Phe1152Ile)
c.3340T>A (p.Phe1114Ile)
c.2902T>A (p.Phe968Ile)
n.4170T>A
3g.47000093T>CCA352516691NBEAL2c.3994T>C (p.Phe1332Leu)
c.3892T>C (p.Phe1298Leu)
n.331T>C
c.1960-103T>C
c.466T>C (p.Phe156Leu)
c.3913T>C (p.Phe1305Leu)
c.3973T>C (p.Phe1325Leu)
c.3625T>C (p.Phe1209Leu)
c.3454T>C (p.Phe1152Leu)
c.3340T>C (p.Phe1114Leu)
c.2902T>C (p.Phe968Leu)
n.4170T>C
3g.47000093T>GCA352516692NBEAL2c.3994T>G (p.Phe1332Val)
c.3892T>G (p.Phe1298Val)
n.331T>G
c.1960-103T>G
c.466T>G (p.Phe156Val)
c.3913T>G (p.Phe1305Val)
c.3973T>G (p.Phe1325Val)
c.3625T>G (p.Phe1209Val)
c.3454T>G (p.Phe1152Val)
c.3340T>G (p.Phe1114Val)
c.2902T>G (p.Phe968Val)
n.4170T>G
3g.47000094T>ACA352516693NBEAL2c.3995T>A (p.Phe1332Tyr)
c.3893T>A (p.Phe1298Tyr)
n.332T>A
c.1960-102T>A
c.467T>A (p.Phe156Tyr)
c.3914T>A (p.Phe1305Tyr)
c.3974T>A (p.Phe1325Tyr)
c.3626T>A (p.Phe1209Tyr)
c.3455T>A (p.Phe1152Tyr)
c.3341T>A (p.Phe1114Tyr)
c.2903T>A (p.Phe968Tyr)
n.4171T>A
3g.47000094T>CCA352516694NBEAL2c.3995T>C (p.Phe1332Ser)
c.3893T>C (p.Phe1298Ser)
n.332T>C
c.1960-102T>C
c.467T>C (p.Phe156Ser)
c.3914T>C (p.Phe1305Ser)
c.3974T>C (p.Phe1325Ser)
c.3626T>C (p.Phe1209Ser)
c.3455T>C (p.Phe1152Ser)
c.3341T>C (p.Phe1114Ser)
c.2903T>C (p.Phe968Ser)
n.4171T>C
 dbSNP
3g.47000094T>GCA352516695NBEAL2c.3995T>G (p.Phe1332Cys)
c.3893T>G (p.Phe1298Cys)
n.332T>G
c.1960-102T>G
c.467T>G (p.Phe156Cys)
c.3914T>G (p.Phe1305Cys)
c.3974T>G (p.Phe1325Cys)
c.3626T>G (p.Phe1209Cys)
c.3455T>G (p.Phe1152Cys)
c.3341T>G (p.Phe1114Cys)
c.2903T>G (p.Phe968Cys)
n.4171T>G
3g.47000094T=CA1362363016NBEAL2c.3995T= (p.Phe1332=)
c.3893T= (p.Phe1298=)
n.332T=
c.1960-102T=
c.467T= (p.Phe156=)
c.3914T= (p.Phe1305=)
c.3974T= (p.Phe1325=)
c.3626T= (p.Phe1209=)
c.3455T= (p.Phe1152=)
c.3341T= (p.Phe1114=)
c.2903T= (p.Phe968=)
n.4171T=
3g.47000095C>ACA352516696NBEAL2c.3996C>A (p.Phe1332Leu)
c.3894C>A (p.Phe1298Leu)
n.333C>A
c.1960-101C>A
c.468C>A (p.Phe156Leu)
c.3915C>A (p.Phe1305Leu)
c.3975C>A (p.Phe1325Leu)
c.3627C>A (p.Phe1209Leu)
c.3456C>A (p.Phe1152Leu)
c.3342C>A (p.Phe1114Leu)
c.2904C>A (p.Phe968Leu)
n.4172C>A
3g.47000095C>GCA352516697NBEAL2c.3996C>G (p.Phe1332Leu)
c.3894C>G (p.Phe1298Leu)
n.333C>G
c.1960-101C>G
c.468C>G (p.Phe156Leu)
c.3915C>G (p.Phe1305Leu)
c.3975C>G (p.Phe1325Leu)
c.3627C>G (p.Phe1209Leu)
c.3456C>G (p.Phe1152Leu)
c.3342C>G (p.Phe1114Leu)
c.2904C>G (p.Phe968Leu)
n.4172C>G
3g.47000095C>TCA433598287NBEAL2c.3996C>T (p.Phe1332=)
c.3894C>T (p.Phe1298=)
n.333C>T
c.1960-101C>T
c.468C>T (p.Phe156=)
c.3915C>T (p.Phe1305=)
c.3975C>T (p.Phe1325=)
c.3627C>T (p.Phe1209=)
c.3456C>T (p.Phe1152=)
c.3342C>T (p.Phe1114=)
c.2904C>T (p.Phe968=)
n.4172C>T
3g.47000096C>ACA352516698NBEAL2c.3997C>A (p.Leu1333Met)
c.3895C>A (p.Leu1299Met)
n.334C>A
c.1960-100C>A
c.469C>A (p.Leu157Met)
c.3916C>A (p.Leu1306Met)
c.3976C>A (p.Leu1326Met)
c.3628C>A (p.Leu1210Met)
c.3457C>A (p.Leu1153Met)
c.3343C>A (p.Leu1115Met)
c.2905C>A (p.Leu969Met)
n.4173C>A
3g.47000096C=CA1362363017NBEAL2c.3997C= (p.Leu1333=)
c.3895C= (p.Leu1299=)
n.334C=
c.1960-100C=
c.469C= (p.Leu157=)
c.3916C= (p.Leu1306=)
c.3976C= (p.Leu1326=)
c.3628C= (p.Leu1210=)
c.3457C= (p.Leu1153=)
c.3343C= (p.Leu1115=)
c.2905C= (p.Leu969=)
n.4173C=
3g.47000096C>GCA352516699NBEAL2c.3997C>G (p.Leu1333Val)
c.3895C>G (p.Leu1299Val)
n.334C>G
c.1960-100C>G
c.469C>G (p.Leu157Val)
c.3916C>G (p.Leu1306Val)
c.3976C>G (p.Leu1326Val)
c.3628C>G (p.Leu1210Val)
c.3457C>G (p.Leu1153Val)
c.3343C>G (p.Leu1115Val)
c.2905C>G (p.Leu969Val)
n.4173C>G
 dbSNP gnomAD v2 gnomAD v4
3g.47000096C>TCA433598289NBEAL2c.3997C>T (p.Leu1333=)
c.3895C>T (p.Leu1299=)
n.334C>T
c.1960-100C>T
c.469C>T (p.Leu157=)
c.3916C>T (p.Leu1306=)
c.3976C>T (p.Leu1326=)
c.3628C>T (p.Leu1210=)
c.3457C>T (p.Leu1153=)
c.3343C>T (p.Leu1115=)
c.2905C>T (p.Leu969=)
n.4173C>T
3g.47000097T>ACA352516700NBEAL2c.3998T>A (p.Leu1333Gln)
c.3896T>A (p.Leu1299Gln)
n.335T>A
c.1960-99T>A
c.470T>A (p.Leu157Gln)
c.3917T>A (p.Leu1306Gln)
c.3977T>A (p.Leu1326Gln)
c.3629T>A (p.Leu1210Gln)
c.3458T>A (p.Leu1153Gln)
c.3344T>A (p.Leu1115Gln)
c.2906T>A (p.Leu969Gln)
n.4174T>A
3g.47000097T>CCA2361122NBEAL2c.3998T>C (p.Leu1333Pro)
c.3896T>C (p.Leu1299Pro)
n.335T>C
c.1960-99T>C
c.470T>C (p.Leu157Pro)
c.3917T>C (p.Leu1306Pro)
c.3977T>C (p.Leu1326Pro)
c.3629T>C (p.Leu1210Pro)
c.3458T>C (p.Leu1153Pro)
c.3344T>C (p.Leu1115Pro)
c.2906T>C (p.Leu969Pro)
n.4174T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.47000097T>GCA352516701NBEAL2c.3998T>G (p.Leu1333Arg)
c.3896T>G (p.Leu1299Arg)
n.335T>G
c.1960-99T>G
c.470T>G (p.Leu157Arg)
c.3917T>G (p.Leu1306Arg)
c.3977T>G (p.Leu1326Arg)
c.3629T>G (p.Leu1210Arg)
c.3458T>G (p.Leu1153Arg)
c.3344T>G (p.Leu1115Arg)
c.2906T>G (p.Leu969Arg)
n.4174T>G
3g.47000097T=CA1362363018NBEAL2c.3998T= (p.Leu1333=)
c.3896T= (p.Leu1299=)
n.335T=
c.1960-99T=
c.470T= (p.Leu157=)
c.3917T= (p.Leu1306=)
c.3977T= (p.Leu1326=)
c.3629T= (p.Leu1210=)
c.3458T= (p.Leu1153=)
c.3344T= (p.Leu1115=)
c.2906T= (p.Leu969=)
n.4174T=
3g.47000098G>ACA433598308NBEAL2c.3999G>A (p.Leu1333=)
c.3897G>A (p.Leu1299=)
n.336G>A
c.1960-98G>A
c.471G>A (p.Leu157=)
c.3918G>A (p.Leu1306=)
c.3978G>A (p.Leu1326=)
c.3630G>A (p.Leu1210=)
c.3459G>A (p.Leu1153=)
c.3345G>A (p.Leu1115=)
c.2907G>A (p.Leu969=)
n.4175G>A
3g.47000098G>CCA433598306NBEAL2c.3999G>C (p.Leu1333=)
c.3897G>C (p.Leu1299=)
n.336G>C
c.1960-98G>C
c.471G>C (p.Leu157=)
c.3918G>C (p.Leu1306=)
c.3978G>C (p.Leu1326=)
c.3630G>C (p.Leu1210=)
c.3459G>C (p.Leu1153=)
c.3345G>C (p.Leu1115=)
c.2907G>C (p.Leu969=)
n.4175G>C
 gnomAD v4
3g.47000098G>TCA433598307NBEAL2c.3999G>T (p.Leu1333=)
c.3897G>T (p.Leu1299=)
n.336G>T
c.1960-98G>T
c.471G>T (p.Leu157=)
c.3918G>T (p.Leu1306=)
c.3978G>T (p.Leu1326=)
c.3630G>T (p.Leu1210=)
c.3459G>T (p.Leu1153=)
c.3345G>T (p.Leu1115=)
c.2907G>T (p.Leu969=)
n.4175G>T
3g.47000099C>ACA352516702NBEAL2c.4000C>A (p.Pro1334Thr)
c.3898C>A (p.Pro1300Thr)
n.337C>A
c.1960-97C>A
c.472C>A (p.Pro158Thr)
c.3919C>A (p.Pro1307Thr)
c.3979C>A (p.Pro1327Thr)
c.3631C>A (p.Pro1211Thr)
c.3460C>A (p.Pro1154Thr)
c.3346C>A (p.Pro1116Thr)
c.2908C>A (p.Pro970Thr)
n.4176C>A
3g.47000099C=CA1362363019NBEAL2c.4000C= (p.Pro1334=)
c.3898C= (p.Pro1300=)
n.337C=
c.1960-97C=
c.472C= (p.Pro158=)
c.3919C= (p.Pro1307=)
c.3979C= (p.Pro1327=)
c.3631C= (p.Pro1211=)
c.3460C= (p.Pro1154=)
c.3346C= (p.Pro1116=)
c.2908C= (p.Pro970=)
n.4176C=
3g.47000099C>GCA2361124NBEAL2c.4000C>G (p.Pro1334Ala)
c.3898C>G (p.Pro1300Ala)
n.337C>G
c.1960-97C>G
c.472C>G (p.Pro158Ala)
c.3919C>G (p.Pro1307Ala)
c.3979C>G (p.Pro1327Ala)
c.3631C>G (p.Pro1211Ala)
c.3460C>G (p.Pro1154Ala)
c.3346C>G (p.Pro1116Ala)
c.2908C>G (p.Pro970Ala)
n.4176C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.47000099C>TCA2361123NBEAL2c.4000C>T (p.Pro1334Ser)
c.3898C>T (p.Pro1300Ser)
n.337C>T
c.1960-97C>T
c.472C>T (p.Pro158Ser)
c.3919C>T (p.Pro1307Ser)
c.3979C>T (p.Pro1327Ser)
c.3631C>T (p.Pro1211Ser)
c.3460C>T (p.Pro1154Ser)
c.3346C>T (p.Pro1116Ser)
c.2908C>T (p.Pro970Ser)
n.4176C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.47000100C>ACA73817706NBEAL2c.4001C>A (p.Pro1334His)
c.3899C>A (p.Pro1300His)
n.338C>A
c.1960-96C>A
c.473C>A (p.Pro158His)
c.3920C>A (p.Pro1307His)
c.3980C>A (p.Pro1327His)
c.3632C>A (p.Pro1211His)
c.3461C>A (p.Pro1154His)
c.3347C>A (p.Pro1116His)
c.2909C>A (p.Pro970His)
n.4177C>A
 dbSNP gnomAD v2 gnomAD v4
3g.47000100C=CA1362363020NBEAL2c.4001C= (p.Pro1334=)
c.3899C= (p.Pro1300=)
n.338C=
c.1960-96C=
c.473C= (p.Pro158=)
c.3920C= (p.Pro1307=)
c.3980C= (p.Pro1327=)
c.3632C= (p.Pro1211=)
c.3461C= (p.Pro1154=)
c.3347C= (p.Pro1116=)
c.2909C= (p.Pro970=)
n.4177C=
3g.47000100C>GCA352516703NBEAL2c.4001C>G (p.Pro1334Arg)
c.3899C>G (p.Pro1300Arg)
n.338C>G
c.1960-96C>G
c.473C>G (p.Pro158Arg)
c.3920C>G (p.Pro1307Arg)
c.3980C>G (p.Pro1327Arg)
c.3632C>G (p.Pro1211Arg)
c.3461C>G (p.Pro1154Arg)
c.3347C>G (p.Pro1116Arg)
c.2909C>G (p.Pro970Arg)
n.4177C>G
3g.47000100C>TCA352516704NBEAL2c.4001C>T (p.Pro1334Leu)
c.3899C>T (p.Pro1300Leu)
n.338C>T
c.1960-96C>T
c.473C>T (p.Pro158Leu)
c.3920C>T (p.Pro1307Leu)
c.3980C>T (p.Pro1327Leu)
c.3632C>T (p.Pro1211Leu)
c.3461C>T (p.Pro1154Leu)
c.3347C>T (p.Pro1116Leu)
c.2909C>T (p.Pro970Leu)
n.4177C>T
3g.47000101C>ACA433598312NBEAL2c.4002C>A (p.Pro1334=)
c.3900C>A (p.Pro1300=)
n.339C>A
c.1960-95C>A
c.474C>A (p.Pro158=)
c.3921C>A (p.Pro1307=)
c.3981C>A (p.Pro1327=)
c.3633C>A (p.Pro1211=)
c.3462C>A (p.Pro1154=)
c.3348C>A (p.Pro1116=)
c.2910C>A (p.Pro970=)
n.4178C>A
3g.47000101C=CA1362363021NBEAL2c.4002C= (p.Pro1334=)
c.3900C= (p.Pro1300=)
n.339C=
c.1960-95C=
c.474C= (p.Pro158=)
c.3921C= (p.Pro1307=)
c.3981C= (p.Pro1327=)
c.3633C= (p.Pro1211=)
c.3462C= (p.Pro1154=)
c.3348C= (p.Pro1116=)
c.2910C= (p.Pro970=)
n.4178C=
3g.47000101C>GCA433598313NBEAL2c.4002C>G (p.Pro1334=)
c.3900C>G (p.Pro1300=)
n.339C>G
c.1960-95C>G
c.474C>G (p.Pro158=)
c.3921C>G (p.Pro1307=)
c.3981C>G (p.Pro1327=)
c.3633C>G (p.Pro1211=)
c.3462C>G (p.Pro1154=)
c.3348C>G (p.Pro1116=)
c.2910C>G (p.Pro970=)
n.4178C>G
3g.47000101C>TCA433598314NBEAL2c.4002C>T (p.Pro1334=)
c.3900C>T (p.Pro1300=)
n.339C>T
c.1960-95C>T
c.474C>T (p.Pro158=)
c.3921C>T (p.Pro1307=)
c.3981C>T (p.Pro1327=)
c.3633C>T (p.Pro1211=)
c.3462C>T (p.Pro1154=)
c.3348C>T (p.Pro1116=)
c.2910C>T (p.Pro970=)
n.4178C>T
 dbSNP
3g.47000102T>ACA352516705NBEAL2c.4003T>A (p.Ser1335Thr)
c.3901T>A (p.Ser1301Thr)
n.340T>A
c.1960-94T>A
c.475T>A (p.Ser159Thr)
c.3922T>A (p.Ser1308Thr)
c.3982T>A (p.Ser1328Thr)
c.3634T>A (p.Ser1212Thr)
c.3463T>A (p.Ser1155Thr)
c.3349T>A (p.Ser1117Thr)
c.2911T>A (p.Ser971Thr)
n.4179T>A
3g.47000102T>CCA352516706NBEAL2c.4003T>C (p.Ser1335Pro)
c.3901T>C (p.Ser1301Pro)
n.340T>C
c.1960-94T>C
c.475T>C (p.Ser159Pro)
c.3922T>C (p.Ser1308Pro)
c.3982T>C (p.Ser1328Pro)
c.3634T>C (p.Ser1212Pro)
c.3463T>C (p.Ser1155Pro)
c.3349T>C (p.Ser1117Pro)
c.2911T>C (p.Ser971Pro)
n.4179T>C
3g.47000102T>GCA352516707NBEAL2c.4003T>G (p.Ser1335Ala)
c.3901T>G (p.Ser1301Ala)
n.340T>G
c.1960-94T>G
c.475T>G (p.Ser159Ala)
c.3922T>G (p.Ser1308Ala)
c.3982T>G (p.Ser1328Ala)
c.3634T>G (p.Ser1212Ala)
c.3463T>G (p.Ser1155Ala)
c.3349T>G (p.Ser1117Ala)
c.2911T>G (p.Ser971Ala)
n.4179T>G
3g.47000103C>ACA352516708NBEAL2c.4004C>A (p.Ser1335Ter)
c.3902C>A (p.Ser1301Ter)
n.341C>A
c.1960-93C>A
c.476C>A (p.Ser159Ter)
c.3923C>A (p.Ser1308Ter)
c.3983C>A (p.Ser1328Ter)
c.3635C>A (p.Ser1212Ter)
c.3464C>A (p.Ser1155Ter)
c.3350C>A (p.Ser1117Ter)
c.2912C>A (p.Ser971Ter)
n.4180C>A
3g.47000103C>GCA352516710NBEAL2c.4004C>G (p.Ser1335Ter)
c.3902C>G (p.Ser1301Ter)
n.341C>G
c.1960-93C>G
c.476C>G (p.Ser159Ter)
c.3923C>G (p.Ser1308Ter)
c.3983C>G (p.Ser1328Ter)
c.3635C>G (p.Ser1212Ter)
c.3464C>G (p.Ser1155Ter)
c.3350C>G (p.Ser1117Ter)
c.2912C>G (p.Ser971Ter)
n.4180C>G
3g.47000103C>TCA352516709NBEAL2c.4004C>T (p.Ser1335Leu)
c.3902C>T (p.Ser1301Leu)
n.341C>T
c.1960-93C>T
c.476C>T (p.Ser159Leu)
c.3923C>T (p.Ser1308Leu)
c.3983C>T (p.Ser1328Leu)
c.3635C>T (p.Ser1212Leu)
c.3464C>T (p.Ser1155Leu)
c.3350C>T (p.Ser1117Leu)
c.2912C>T (p.Ser971Leu)
n.4180C>T
3g.47000104A>CCA433598317NBEAL2c.4005A>C (p.Ser1335=)
c.3903A>C (p.Ser1301=)
n.342A>C
c.1960-92A>C
c.477A>C (p.Ser159=)
c.3924A>C (p.Ser1308=)
c.3984A>C (p.Ser1328=)
c.3636A>C (p.Ser1212=)
c.3465A>C (p.Ser1155=)
c.3351A>C (p.Ser1117=)
c.2913A>C (p.Ser971=)
n.4181A>C
3g.47000104A>GCA433598318NBEAL2c.4005A>G (p.Ser1335=)
c.3903A>G (p.Ser1301=)
n.342A>G
c.1960-92A>G
c.477A>G (p.Ser159=)
c.3924A>G (p.Ser1308=)
c.3984A>G (p.Ser1328=)
c.3636A>G (p.Ser1212=)
c.3465A>G (p.Ser1155=)
c.3351A>G (p.Ser1117=)
c.2913A>G (p.Ser971=)
n.4181A>G
3g.47000104A>TCA433598319NBEAL2c.4005A>T (p.Ser1335=)
c.3903A>T (p.Ser1301=)
n.342A>T
c.1960-92A>T
c.477A>T (p.Ser159=)
c.3924A>T (p.Ser1308=)
c.3984A>T (p.Ser1328=)
c.3636A>T (p.Ser1212=)
c.3465A>T (p.Ser1155=)
c.3351A>T (p.Ser1117=)
c.2913A>T (p.Ser971=)
n.4181A>T
3g.47000105G>ACA352516711NBEAL2c.4006G>A (p.Glu1336Lys)
c.3904G>A (p.Glu1302Lys)
n.343G>A
c.1960-91G>A
c.478G>A (p.Glu160Lys)
c.3925G>A (p.Glu1309Lys)
c.3985G>A (p.Glu1329Lys)
c.3637G>A (p.Glu1213Lys)
c.3466G>A (p.Glu1156Lys)
c.3352G>A (p.Glu1118Lys)
c.2914G>A (p.Glu972Lys)
n.4182G>A
3g.47000105G>CCA352516712NBEAL2c.4006G>C (p.Glu1336Gln)
c.3904G>C (p.Glu1302Gln)
n.343G>C
c.1960-91G>C
c.478G>C (p.Glu160Gln)
c.3925G>C (p.Glu1309Gln)
c.3985G>C (p.Glu1329Gln)
c.3637G>C (p.Glu1213Gln)
c.3466G>C (p.Glu1156Gln)
c.3352G>C (p.Glu1118Gln)
c.2914G>C (p.Glu972Gln)
n.4182G>C
3g.47000105G>TCA352516713NBEAL2c.4006G>T (p.Glu1336Ter)
c.3904G>T (p.Glu1302Ter)
n.343G>T
c.1960-91G>T
c.478G>T (p.Glu160Ter)
c.3925G>T (p.Glu1309Ter)
c.3985G>T (p.Glu1329Ter)
c.3637G>T (p.Glu1213Ter)
c.3466G>T (p.Glu1156Ter)
c.3352G>T (p.Glu1118Ter)
c.2914G>T (p.Glu972Ter)
n.4182G>T
3g.47000106A>CCA352516714NBEAL2c.4007A>C (p.Glu1336Ala)
c.3905A>C (p.Glu1302Ala)
n.344A>C
c.1960-90A>C
c.479A>C (p.Glu160Ala)
c.3926A>C (p.Glu1309Ala)
c.3986A>C (p.Glu1329Ala)
c.3638A>C (p.Glu1213Ala)
c.3467A>C (p.Glu1156Ala)
c.3353A>C (p.Glu1118Ala)
c.2915A>C (p.Glu972Ala)
n.4183A>C
3g.47000106A>GCA352516715NBEAL2c.4007A>G (p.Glu1336Gly)
c.3905A>G (p.Glu1302Gly)
n.344A>G
c.1960-90A>G
c.479A>G (p.Glu160Gly)
c.3926A>G (p.Glu1309Gly)
c.3986A>G (p.Glu1329Gly)
c.3638A>G (p.Glu1213Gly)
c.3467A>G (p.Glu1156Gly)
c.3353A>G (p.Glu1118Gly)
c.2915A>G (p.Glu972Gly)
n.4183A>G
3g.47000106A>TCA352516716NBEAL2c.4007A>T (p.Glu1336Val)
c.3905A>T (p.Glu1302Val)
n.344A>T
c.1960-90A>T
c.479A>T (p.Glu160Val)
c.3926A>T (p.Glu1309Val)
c.3986A>T (p.Glu1329Val)
c.3638A>T (p.Glu1213Val)
c.3467A>T (p.Glu1156Val)
c.3353A>T (p.Glu1118Val)
c.2915A>T (p.Glu972Val)
n.4183A>T
3g.47000107G>ACA433598323NBEAL2c.4008G>A (p.Glu1336=)
c.3906G>A (p.Glu1302=)
n.345G>A
c.1960-89G>A
c.480G>A (p.Glu160=)
c.3927G>A (p.Glu1309=)
c.3987G>A (p.Glu1329=)
c.3639G>A (p.Glu1213=)
c.3468G>A (p.Glu1156=)
c.3354G>A (p.Glu1118=)
c.2916G>A (p.Glu972=)
n.4184G>A
 gnomAD v4
3g.47000107G>CCA352516717NBEAL2c.4008G>C (p.Glu1336Asp)
c.3906G>C (p.Glu1302Asp)
n.345G>C
c.1960-89G>C
c.480G>C (p.Glu160Asp)
c.3927G>C (p.Glu1309Asp)
c.3987G>C (p.Glu1329Asp)
c.3639G>C (p.Glu1213Asp)
c.3468G>C (p.Glu1156Asp)
c.3354G>C (p.Glu1118Asp)
c.2916G>C (p.Glu972Asp)
n.4184G>C
3g.47000107G>TCA352516718NBEAL2c.4008G>T (p.Glu1336Asp)
c.3906G>T (p.Glu1302Asp)
n.345G>T
c.1960-89G>T
c.480G>T (p.Glu160Asp)
c.3927G>T (p.Glu1309Asp)
c.3987G>T (p.Glu1329Asp)
c.3639G>T (p.Glu1213Asp)
c.3468G>T (p.Glu1156Asp)
c.3354G>T (p.Glu1118Asp)
c.2916G>T (p.Glu972Asp)
n.4184G>T
3g.47000108G>ACA352516719NBEAL2c.4009G>A (p.Ala1337Thr)
c.3907G>A (p.Ala1303Thr)
n.346G>A
c.1960-88G>A
c.481G>A (p.Ala161Thr)
c.3928G>A (p.Ala1310Thr)
c.3988G>A (p.Ala1330Thr)
c.3640G>A (p.Ala1214Thr)
c.3469G>A (p.Ala1157Thr)
c.3355G>A (p.Ala1119Thr)
c.2917G>A (p.Ala973Thr)
n.4185G>A
 gnomAD v4
3g.47000108G>CCA352516720NBEAL2c.4009G>C (p.Ala1337Pro)
c.3907G>C (p.Ala1303Pro)
n.346G>C
c.1960-88G>C
c.481G>C (p.Ala161Pro)
c.3928G>C (p.Ala1310Pro)
c.3988G>C (p.Ala1330Pro)
c.3640G>C (p.Ala1214Pro)
c.3469G>C (p.Ala1157Pro)
c.3355G>C (p.Ala1119Pro)
c.2917G>C (p.Ala973Pro)
n.4185G>C
3g.47000108G=CA1362363022NBEAL2c.4009G= (p.Ala1337=)
c.3907G= (p.Ala1303=)
n.346G=
c.1960-88G=
c.481G= (p.Ala161=)
c.3928G= (p.Ala1310=)
c.3988G= (p.Ala1330=)
c.3640G= (p.Ala1214=)
c.3469G= (p.Ala1157=)
c.3355G= (p.Ala1119=)
c.2917G= (p.Ala973=)
n.4185G=
3g.47000108G>TCA352516721NBEAL2c.4009G>T (p.Ala1337Ser)
c.3907G>T (p.Ala1303Ser)
n.346G>T
c.1960-88G>T
c.481G>T (p.Ala161Ser)
c.3928G>T (p.Ala1310Ser)
c.3988G>T (p.Ala1330Ser)
c.3640G>T (p.Ala1214Ser)
c.3469G>T (p.Ala1157Ser)
c.3355G>T (p.Ala1119Ser)
c.2917G>T (p.Ala973Ser)
n.4185G>T
 dbSNP gnomAD v2 gnomAD v4
3g.47000109C>ACA352516724NBEAL2c.4010C>A (p.Ala1337Asp)
c.3908C>A (p.Ala1303Asp)
n.347C>A
c.1960-87C>A
c.482C>A (p.Ala161Asp)
c.3929C>A (p.Ala1310Asp)
c.3989C>A (p.Ala1330Asp)
c.3641C>A (p.Ala1214Asp)
c.3470C>A (p.Ala1157Asp)
c.3356C>A (p.Ala1119Asp)
c.2918C>A (p.Ala973Asp)
n.4186C>A
3g.47000109C>GCA352516723NBEAL2c.4010C>G (p.Ala1337Gly)
c.3908C>G (p.Ala1303Gly)
n.347C>G
c.1960-87C>G
c.482C>G (p.Ala161Gly)
c.3929C>G (p.Ala1310Gly)
c.3989C>G (p.Ala1330Gly)
c.3641C>G (p.Ala1214Gly)
c.3470C>G (p.Ala1157Gly)
c.3356C>G (p.Ala1119Gly)
c.2918C>G (p.Ala973Gly)
n.4186C>G
3g.47000109C>TCA352516722NBEAL2c.4010C>T (p.Ala1337Val)
c.3908C>T (p.Ala1303Val)
n.347C>T
c.1960-87C>T
c.482C>T (p.Ala161Val)
c.3929C>T (p.Ala1310Val)
c.3989C>T (p.Ala1330Val)
c.3641C>T (p.Ala1214Val)
c.3470C>T (p.Ala1157Val)
c.3356C>T (p.Ala1119Val)
c.2918C>T (p.Ala973Val)
n.4186C>T
3g.47000110C>ACA433598327NBEAL2c.4011C>A (p.Ala1337=)
c.3909C>A (p.Ala1303=)
n.348C>A
c.1960-86C>A
c.483C>A (p.Ala161=)
c.3930C>A (p.Ala1310=)
c.3990C>A (p.Ala1330=)
c.3642C>A (p.Ala1214=)
c.3471C>A (p.Ala1157=)
c.3357C>A (p.Ala1119=)
c.2919C>A (p.Ala973=)
n.4187C>A
3g.47000110C>GCA433598328NBEAL2c.4011C>G (p.Ala1337=)
c.3909C>G (p.Ala1303=)
n.348C>G
c.1960-86C>G
c.483C>G (p.Ala161=)
c.3930C>G (p.Ala1310=)
c.3990C>G (p.Ala1330=)
c.3642C>G (p.Ala1214=)
c.3471C>G (p.Ala1157=)
c.3357C>G (p.Ala1119=)
c.2919C>G (p.Ala973=)
n.4187C>G
3g.47000110C>TCA433598329NBEAL2c.4011C>T (p.Ala1337=)
c.3909C>T (p.Ala1303=)
n.348C>T
c.1960-86C>T
c.483C>T (p.Ala161=)
c.3930C>T (p.Ala1310=)
c.3990C>T (p.Ala1330=)
c.3642C>T (p.Ala1214=)
c.3471C>T (p.Ala1157=)
c.3357C>T (p.Ala1119=)
c.2919C>T (p.Ala973=)
n.4187C>T
3g.47000111C>ACA352516726NBEAL2c.4012C>A (p.Pro1338Thr)
c.3910C>A (p.Pro1304Thr)
n.349C>A
c.1960-85C>A
c.484C>A (p.Pro162Thr)
c.3931C>A (p.Pro1311Thr)
c.3991C>A (p.Pro1331Thr)
c.3643C>A (p.Pro1215Thr)
c.3472C>A (p.Pro1158Thr)
c.3358C>A (p.Pro1120Thr)
c.2920C>A (p.Pro974Thr)
n.4188C>A
3g.47000111C=CA1362363023NBEAL2c.4012C= (p.Pro1338=)
c.3910C= (p.Pro1304=)
n.349C=
c.1960-85C=
c.484C= (p.Pro162=)
c.3931C= (p.Pro1311=)
c.3991C= (p.Pro1331=)
c.3643C= (p.Pro1215=)
c.3472C= (p.Pro1158=)
c.3358C= (p.Pro1120=)
c.2920C= (p.Pro974=)
n.4188C=
3g.47000111C>GCA352516725NBEAL2c.4012C>G (p.Pro1338Ala)
c.3910C>G (p.Pro1304Ala)
n.349C>G
c.1960-85C>G
c.484C>G (p.Pro162Ala)
c.3931C>G (p.Pro1311Ala)
c.3991C>G (p.Pro1331Ala)
c.3643C>G (p.Pro1215Ala)
c.3472C>G (p.Pro1158Ala)
c.3358C>G (p.Pro1120Ala)
c.2920C>G (p.Pro974Ala)
n.4188C>G
3g.47000111C>TCA352516727NBEAL2c.4012C>T (p.Pro1338Ser)
c.3910C>T (p.Pro1304Ser)
n.349C>T
c.1960-85C>T
c.484C>T (p.Pro162Ser)
c.3931C>T (p.Pro1311Ser)
c.3991C>T (p.Pro1331Ser)
c.3643C>T (p.Pro1215Ser)
c.3472C>T (p.Pro1158Ser)
c.3358C>T (p.Pro1120Ser)
c.2920C>T (p.Pro974Ser)
n.4188C>T
 dbSNP gnomAD v2 gnomAD v4
3g.47000112C>ACA2361126NBEAL2c.4013C>A (p.Pro1338His)
c.3911C>A (p.Pro1304His)
n.350C>A
c.1960-84C>A
c.485C>A (p.Pro162His)
c.3932C>A (p.Pro1311His)
c.3992C>A (p.Pro1331His)
c.3644C>A (p.Pro1215His)
c.3473C>A (p.Pro1158His)
c.3359C>A (p.Pro1120His)
c.2921C>A (p.Pro974His)
n.4189C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.47000112C=CA1362363024NBEAL2c.4013C= (p.Pro1338=)
c.3911C= (p.Pro1304=)
n.350C=
c.1960-84C=
c.485C= (p.Pro162=)
c.3932C= (p.Pro1311=)
c.3992C= (p.Pro1331=)
c.3644C= (p.Pro1215=)
c.3473C= (p.Pro1158=)
c.3359C= (p.Pro1120=)
c.2921C= (p.Pro974=)
n.4189C=
3g.47000112C>GCA2361125NBEAL2c.4013C>G (p.Pro1338Arg)
c.3911C>G (p.Pro1304Arg)
n.350C>G
c.1960-84C>G
c.485C>G (p.Pro162Arg)
c.3932C>G (p.Pro1311Arg)
c.3992C>G (p.Pro1331Arg)
c.3644C>G (p.Pro1215Arg)
c.3473C>G (p.Pro1158Arg)
c.3359C>G (p.Pro1120Arg)
c.2921C>G (p.Pro974Arg)
n.4189C>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.47000112C>TCA352516728NBEAL2c.4013C>T (p.Pro1338Leu)
c.3911C>T (p.Pro1304Leu)
n.350C>T
c.1960-84C>T
c.485C>T (p.Pro162Leu)
c.3932C>T (p.Pro1311Leu)
c.3992C>T (p.Pro1331Leu)
c.3644C>T (p.Pro1215Leu)
c.3473C>T (p.Pro1158Leu)
c.3359C>T (p.Pro1120Leu)
c.2921C>T (p.Pro974Leu)
n.4189C>T
3g.47000113C>ACA433598330NBEAL2c.4014C>A (p.Pro1338=)
c.3912C>A (p.Pro1304=)
n.351C>A
c.1960-83C>A
c.486C>A (p.Pro162=)
c.3933C>A (p.Pro1311=)
c.3993C>A (p.Pro1331=)
c.3645C>A (p.Pro1215=)
c.3474C>A (p.Pro1158=)
c.3360C>A (p.Pro1120=)
c.2922C>A (p.Pro974=)
n.4190C>A
3g.47000113C>GCA433598331NBEAL2c.4014C>G (p.Pro1338=)
c.3912C>G (p.Pro1304=)
n.351C>G
c.1960-83C>G
c.486C>G (p.Pro162=)
c.3933C>G (p.Pro1311=)
c.3993C>G (p.Pro1331=)
c.3645C>G (p.Pro1215=)
c.3474C>G (p.Pro1158=)
c.3360C>G (p.Pro1120=)
c.2922C>G (p.Pro974=)
n.4190C>G
3g.47000113C>TCA433598333NBEAL2c.4014C>T (p.Pro1338=)
c.3912C>T (p.Pro1304=)
n.351C>T
c.1960-83C>T
c.486C>T (p.Pro162=)
c.3933C>T (p.Pro1311=)
c.3993C>T (p.Pro1331=)
c.3645C>T (p.Pro1215=)
c.3474C>T (p.Pro1158=)
c.3360C>T (p.Pro1120=)
c.2922C>T (p.Pro974=)
n.4190C>T
3g.47000114T>ACA352516729NBEAL2c.4015T>A (p.Cys1339Ser)
c.3913T>A (p.Cys1305Ser)
n.352T>A
c.1960-82T>A
c.487T>A (p.Cys163Ser)
c.3934T>A (p.Cys1312Ser)
c.3994T>A (p.Cys1332Ser)
c.3646T>A (p.Cys1216Ser)
c.3475T>A (p.Cys1159Ser)
c.3361T>A (p.Cys1121Ser)
c.2923T>A (p.Cys975Ser)
n.4191T>A
 gnomAD v4
3g.47000114T>CCA352516730NBEAL2c.4015T>C (p.Cys1339Arg)
c.3913T>C (p.Cys1305Arg)
n.352T>C
c.1960-82T>C
c.487T>C (p.Cys163Arg)
c.3934T>C (p.Cys1312Arg)
c.3994T>C (p.Cys1332Arg)
c.3646T>C (p.Cys1216Arg)
c.3475T>C (p.Cys1159Arg)
c.3361T>C (p.Cys1121Arg)
c.2923T>C (p.Cys975Arg)
n.4191T>C
 dbSNP gnomAD v3 gnomAD v4
3g.47000114T>GCA352516731NBEAL2c.4015T>G (p.Cys1339Gly)
c.3913T>G (p.Cys1305Gly)
n.352T>G
c.1960-82T>G
c.487T>G (p.Cys163Gly)
c.3934T>G (p.Cys1312Gly)
c.3994T>G (p.Cys1332Gly)
c.3646T>G (p.Cys1216Gly)
c.3475T>G (p.Cys1159Gly)
c.3361T>G (p.Cys1121Gly)
c.2923T>G (p.Cys975Gly)
n.4191T>G
3g.47000114T=CA1362363025NBEAL2c.4015T= (p.Cys1339=)
c.3913T= (p.Cys1305=)
n.352T=
c.1960-82T=
c.487T= (p.Cys163=)
c.3934T= (p.Cys1312=)
c.3994T= (p.Cys1332=)
c.3646T= (p.Cys1216=)
c.3475T= (p.Cys1159=)
c.3361T= (p.Cys1121=)
c.2923T= (p.Cys975=)
n.4191T=
3g.47000115G>ACA352516732NBEAL2c.4016G>A (p.Cys1339Tyr)
c.3914G>A (p.Cys1305Tyr)
n.353G>A
c.1960-81G>A
c.488G>A (p.Cys163Tyr)
c.3935G>A (p.Cys1312Tyr)
c.3995G>A (p.Cys1332Tyr)
c.3647G>A (p.Cys1216Tyr)
c.3476G>A (p.Cys1159Tyr)
c.3362G>A (p.Cys1121Tyr)
c.2924G>A (p.Cys975Tyr)
n.4192G>A
3g.47000115G>CCA352516733NBEAL2c.4016G>C (p.Cys1339Ser)
c.3914G>C (p.Cys1305Ser)
n.353G>C
c.1960-81G>C
c.488G>C (p.Cys163Ser)
c.3935G>C (p.Cys1312Ser)
c.3995G>C (p.Cys1332Ser)
c.3647G>C (p.Cys1216Ser)
c.3476G>C (p.Cys1159Ser)
c.3362G>C (p.Cys1121Ser)
c.2924G>C (p.Cys975Ser)
n.4192G>C
3g.47000115G>TCA352516734NBEAL2c.4016G>T (p.Cys1339Phe)
c.3914G>T (p.Cys1305Phe)
n.353G>T
c.1960-81G>T
c.488G>T (p.Cys163Phe)
c.3935G>T (p.Cys1312Phe)
c.3995G>T (p.Cys1332Phe)
c.3647G>T (p.Cys1216Phe)
c.3476G>T (p.Cys1159Phe)
c.3362G>T (p.Cys1121Phe)
c.2924G>T (p.Cys975Phe)
n.4192G>T
3g.47000116C>ACA352516735NBEAL2c.4017C>A (p.Cys1339Ter)
c.3915C>A (p.Cys1305Ter)
n.354C>A
c.1960-80C>A
c.489C>A (p.Cys163Ter)
c.3936C>A (p.Cys1312Ter)
c.3996C>A (p.Cys1332Ter)
c.3648C>A (p.Cys1216Ter)
c.3477C>A (p.Cys1159Ter)
c.3363C>A (p.Cys1121Ter)
c.2925C>A (p.Cys975Ter)
n.4193C>A
3g.47000116C>GCA352516736NBEAL2c.4017C>G (p.Cys1339Trp)
c.3915C>G (p.Cys1305Trp)
n.354C>G
c.1960-80C>G
c.489C>G (p.Cys163Trp)
c.3936C>G (p.Cys1312Trp)
c.3996C>G (p.Cys1332Trp)
c.3648C>G (p.Cys1216Trp)
c.3477C>G (p.Cys1159Trp)
c.3363C>G (p.Cys1121Trp)
c.2925C>G (p.Cys975Trp)
n.4193C>G
3g.47000116C>TCA433598336NBEAL2c.4017C>T (p.Cys1339=)
c.3915C>T (p.Cys1305=)
n.354C>T
c.1960-80C>T
c.489C>T (p.Cys163=)
c.3936C>T (p.Cys1312=)
c.3996C>T (p.Cys1332=)
c.3648C>T (p.Cys1216=)
c.3477C>T (p.Cys1159=)
c.3363C>T (p.Cys1121=)
c.2925C>T (p.Cys975=)
n.4193C>T
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
 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

Number of alleles fetched