Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.46999866A>GCA2665493204NBEAL2c.3790-23A>G (n.3790-23A>G)
c.3688-23A>G (n.3688-23A>G)
n.127-23A>G
c.1960-330A>G
c.262-23A>G (n.262-23A>G)
c.3709-23A>G (n.3709-23A>G)
c.3769-23A>G (n.3769-23A>G)
c.3421-23A>G (n.3421-23A>G)
c.3250-23A>G (n.3250-23A>G)
c.3136-23A>G (n.3136-23A>G)
c.2698-23A>G (n.2698-23A>G)
n.3966-23A>G
 gnomAD v4
3g.46999868T>GCA543042642NBEAL2c.3790-21T>G (n.3790-21T>G)
c.3688-21T>G (n.3688-21T>G)
n.127-21T>G
c.1960-328T>G
c.262-21T>G (n.262-21T>G)
c.3709-21T>G (n.3709-21T>G)
c.3769-21T>G (n.3769-21T>G)
c.3421-21T>G (n.3421-21T>G)
c.3250-21T>G (n.3250-21T>G)
c.3136-21T>G (n.3136-21T>G)
c.2698-21T>G (n.2698-21T>G)
n.3966-21T>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.46999868T=CA1362362904NBEAL2c.3790-21T= (n.3790-21T=)
c.3688-21T= (n.3688-21T=)
n.127-21T=
c.1960-328T=
c.262-21T= (n.262-21T=)
c.3709-21T= (n.3709-21T=)
c.3769-21T= (n.3769-21T=)
c.3421-21T= (n.3421-21T=)
c.3250-21T= (n.3250-21T=)
c.3136-21T= (n.3136-21T=)
c.2698-21T= (n.2698-21T=)
n.3966-21T=
3g.46999870G>ACA2361079NBEAL2c.3790-19G>A (n.3790-19G>A)
c.3688-19G>A (n.3688-19G>A)
n.127-19G>A
c.1960-326G>A
c.262-19G>A (n.262-19G>A)
c.3709-19G>A (n.3709-19G>A)
c.3769-19G>A (n.3769-19G>A)
c.3421-19G>A (n.3421-19G>A)
c.3250-19G>A (n.3250-19G>A)
c.3136-19G>A (n.3136-19G>A)
c.2698-19G>A (n.2698-19G>A)
n.3966-19G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.46999870G>CCA2756112670NBEAL2c.3790-19G>C (n.3790-19G>C)
c.3688-19G>C (n.3688-19G>C)
n.127-19G>C
c.1960-326G>C
c.262-19G>C (n.262-19G>C)
c.3709-19G>C (n.3709-19G>C)
c.3769-19G>C (n.3769-19G>C)
c.3421-19G>C (n.3421-19G>C)
c.3250-19G>C (n.3250-19G>C)
c.3136-19G>C (n.3136-19G>C)
c.2698-19G>C (n.2698-19G>C)
n.3966-19G>C
3g.46999870G=CA1362362905NBEAL2c.3790-19G= (n.3790-19G=)
c.3688-19G= (n.3688-19G=)
n.127-19G=
c.1960-326G=
c.262-19G= (n.262-19G=)
c.3709-19G= (n.3709-19G=)
c.3769-19G= (n.3769-19G=)
c.3421-19G= (n.3421-19G=)
c.3250-19G= (n.3250-19G=)
c.3136-19G= (n.3136-19G=)
c.2698-19G= (n.2698-19G=)
n.3966-19G=
3g.46999873G>ACA1047549573NBEAL2c.3790-16G>A (n.3790-16G>A)
c.3688-16G>A (n.3688-16G>A)
n.127-16G>A
c.1960-323G>A
c.262-16G>A (n.262-16G>A)
c.3709-16G>A (n.3709-16G>A)
c.3769-16G>A (n.3769-16G>A)
c.3421-16G>A (n.3421-16G>A)
c.3250-16G>A (n.3250-16G>A)
c.3136-16G>A (n.3136-16G>A)
c.2698-16G>A (n.2698-16G>A)
n.3966-16G>A
 dbSNP gnomAD v3 gnomAD v4
3g.46999873G=CA1362362906NBEAL2c.3790-16G= (n.3790-16G=)
c.3688-16G= (n.3688-16G=)
n.127-16G=
c.1960-323G=
c.262-16G= (n.262-16G=)
c.3709-16G= (n.3709-16G=)
c.3769-16G= (n.3769-16G=)
c.3421-16G= (n.3421-16G=)
c.3250-16G= (n.3250-16G=)
c.3136-16G= (n.3136-16G=)
c.2698-16G= (n.2698-16G=)
n.3966-16G=
3g.46999873G>TCA2665493205NBEAL2c.3790-16G>T (n.3790-16G>T)
c.3688-16G>T (n.3688-16G>T)
n.127-16G>T
c.1960-323G>T
c.262-16G>T (n.262-16G>T)
c.3709-16G>T (n.3709-16G>T)
c.3769-16G>T (n.3769-16G>T)
c.3421-16G>T (n.3421-16G>T)
c.3250-16G>T (n.3250-16G>T)
c.3136-16G>T (n.3136-16G>T)
c.2698-16G>T (n.2698-16G>T)
n.3966-16G>T
 gnomAD v4
3g.46999874T>CCA2665493206NBEAL2c.3790-15T>C (n.3790-15T>C)
c.3688-15T>C (n.3688-15T>C)
n.127-15T>C
c.1960-322T>C
c.262-15T>C (n.262-15T>C)
c.3709-15T>C (n.3709-15T>C)
c.3769-15T>C (n.3769-15T>C)
c.3421-15T>C (n.3421-15T>C)
c.3250-15T>C (n.3250-15T>C)
c.3136-15T>C (n.3136-15T>C)
c.2698-15T>C (n.2698-15T>C)
n.3966-15T>C
 gnomAD v4
3g.46999875G>CCA1362362908NBEAL2c.3790-14G>C (n.3790-14G>C)
c.3688-14G>C (n.3688-14G>C)
n.127-14G>C
c.1960-321G>C
c.262-14G>C (n.262-14G>C)
c.3709-14G>C (n.3709-14G>C)
c.3769-14G>C (n.3769-14G>C)
c.3421-14G>C (n.3421-14G>C)
c.3250-14G>C (n.3250-14G>C)
c.3136-14G>C (n.3136-14G>C)
c.2698-14G>C (n.2698-14G>C)
n.3966-14G>C
 dbSNP
3g.46999875G=CA1362362907NBEAL2c.3790-14G= (n.3790-14G=)
c.3688-14G= (n.3688-14G=)
n.127-14G=
c.1960-321G=
c.262-14G= (n.262-14G=)
c.3709-14G= (n.3709-14G=)
c.3769-14G= (n.3769-14G=)
c.3421-14G= (n.3421-14G=)
c.3250-14G= (n.3250-14G=)
c.3136-14G= (n.3136-14G=)
c.2698-14G= (n.2698-14G=)
n.3966-14G=
3g.46999875G>TCA2665493207NBEAL2c.3790-14G>T (n.3790-14G>T)
c.3688-14G>T (n.3688-14G>T)
n.127-14G>T
c.1960-321G>T
c.262-14G>T (n.262-14G>T)
c.3709-14G>T (n.3709-14G>T)
c.3769-14G>T (n.3769-14G>T)
c.3421-14G>T (n.3421-14G>T)
c.3250-14G>T (n.3250-14G>T)
c.3136-14G>T (n.3136-14G>T)
c.2698-14G>T (n.2698-14G>T)
n.3966-14G>T
 gnomAD v4
3g.46999878C=CA1362362909NBEAL2c.3790-11C= (n.3790-11C=)
c.3688-11C= (n.3688-11C=)
n.127-11C=
c.1960-318C=
c.262-11C= (n.262-11C=)
c.3709-11C= (n.3709-11C=)
c.3769-11C= (n.3769-11C=)
c.3421-11C= (n.3421-11C=)
c.3250-11C= (n.3250-11C=)
c.3136-11C= (n.3136-11C=)
c.2698-11C= (n.2698-11C=)
n.3966-11C=
3g.46999878C>TCA73817415NBEAL2c.3790-11C>T (n.3790-11C>T)
c.3688-11C>T (n.3688-11C>T)
n.127-11C>T
c.1960-318C>T
c.262-11C>T (n.262-11C>T)
c.3709-11C>T (n.3709-11C>T)
c.3769-11C>T (n.3769-11C>T)
c.3421-11C>T (n.3421-11C>T)
c.3250-11C>T (n.3250-11C>T)
c.3136-11C>T (n.3136-11C>T)
c.2698-11C>T (n.2698-11C>T)
n.3966-11C>T
 dbSNP gnomAD v3 gnomAD v4
3g.46999879T>CCA2665493208NBEAL2c.3790-10T>C (n.3790-10T>C)
c.3688-10T>C (n.3688-10T>C)
n.127-10T>C
c.1960-317T>C
c.262-10T>C (n.262-10T>C)
c.3709-10T>C (n.3709-10T>C)
c.3769-10T>C (n.3769-10T>C)
c.3421-10T>C (n.3421-10T>C)
c.3250-10T>C (n.3250-10T>C)
c.3136-10T>C (n.3136-10T>C)
c.2698-10T>C (n.2698-10T>C)
n.3966-10T>C
 gnomAD v4
3g.46999880C=CA1362362910NBEAL2c.3790-9C= (n.3790-9C=)
c.3688-9C= (n.3688-9C=)
n.127-9C=
c.1960-316C=
c.262-9C= (n.262-9C=)
c.3709-9C= (n.3709-9C=)
c.3769-9C= (n.3769-9C=)
c.3421-9C= (n.3421-9C=)
c.3250-9C= (n.3250-9C=)
c.3136-9C= (n.3136-9C=)
c.2698-9C= (n.2698-9C=)
n.3966-9C=
3g.46999880C>GCA73817426NBEAL2c.3790-9C>G (n.3790-9C>G)
c.3688-9C>G (n.3688-9C>G)
n.127-9C>G
c.1960-316C>G
c.262-9C>G (n.262-9C>G)
c.3709-9C>G (n.3709-9C>G)
c.3769-9C>G (n.3769-9C>G)
c.3421-9C>G (n.3421-9C>G)
c.3250-9C>G (n.3250-9C>G)
c.3136-9C>G (n.3136-9C>G)
c.2698-9C>G (n.2698-9C>G)
n.3966-9C>G
 dbSNP gnomAD v3 gnomAD v4
3g.46999880C>TCA2361080NBEAL2c.3790-9C>T (n.3790-9C>T)
c.3688-9C>T (n.3688-9C>T)
n.127-9C>T
c.1960-316C>T
c.262-9C>T (n.262-9C>T)
c.3709-9C>T (n.3709-9C>T)
c.3769-9C>T (n.3769-9C>T)
c.3421-9C>T (n.3421-9C>T)
c.3250-9C>T (n.3250-9C>T)
c.3136-9C>T (n.3136-9C>T)
c.2698-9C>T (n.2698-9C>T)
n.3966-9C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.46999881G>ACA2361081NBEAL2c.3790-8G>A (n.3790-8G>A)
c.3688-8G>A (n.3688-8G>A)
n.127-8G>A
c.1960-315G>A
c.262-8G>A (n.262-8G>A)
c.3709-8G>A (n.3709-8G>A)
c.3769-8G>A (n.3769-8G>A)
c.3421-8G>A (n.3421-8G>A)
c.3250-8G>A (n.3250-8G>A)
c.3136-8G>A (n.3136-8G>A)
c.2698-8G>A (n.2698-8G>A)
n.3966-8G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.46999881G=CA1362362911NBEAL2c.3790-8G= (n.3790-8G=)
c.3688-8G= (n.3688-8G=)
n.127-8G=
c.1960-315G=
c.262-8G= (n.262-8G=)
c.3709-8G= (n.3709-8G=)
c.3769-8G= (n.3769-8G=)
c.3421-8G= (n.3421-8G=)
c.3250-8G= (n.3250-8G=)
c.3136-8G= (n.3136-8G=)
c.2698-8G= (n.2698-8G=)
n.3966-8G=
3g.46999881G>TCA2361082NBEAL2c.3790-8G>T (n.3790-8G>T)
c.3688-8G>T (n.3688-8G>T)
n.127-8G>T
c.1960-315G>T
c.262-8G>T (n.262-8G>T)
c.3709-8G>T (n.3709-8G>T)
c.3769-8G>T (n.3769-8G>T)
c.3421-8G>T (n.3421-8G>T)
c.3250-8G>T (n.3250-8G>T)
c.3136-8G>T (n.3136-8G>T)
c.2698-8G>T (n.2698-8G>T)
n.3966-8G>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.46999884T>GCA2665493209NBEAL2c.3790-5T>G (n.3790-5T>G)
c.3688-5T>G (n.3688-5T>G)
n.127-5T>G
c.1960-312T>G
c.262-5T>G (n.262-5T>G)
c.3709-5T>G (n.3709-5T>G)
c.3769-5T>G (n.3769-5T>G)
c.3421-5T>G (n.3421-5T>G)
c.3250-5T>G (n.3250-5T>G)
c.3136-5T>G (n.3136-5T>G)
c.2698-5T>G (n.2698-5T>G)
n.3966-5T>G
 gnomAD v4
3g.46999885G>ACA543042643NBEAL2c.3790-4G>A (n.3790-4G>A)
c.3688-4G>A (n.3688-4G>A)
n.127-4G>A
c.1960-311G>A
c.262-4G>A (n.262-4G>A)
c.3709-4G>A (n.3709-4G>A)
c.3769-4G>A (n.3769-4G>A)
c.3421-4G>A (n.3421-4G>A)
c.3250-4G>A (n.3250-4G>A)
c.3136-4G>A (n.3136-4G>A)
c.2698-4G>A (n.2698-4G>A)
n.3966-4G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.46999885G=CA1362362912NBEAL2c.3790-4G= (n.3790-4G=)
c.3688-4G= (n.3688-4G=)
n.127-4G=
c.1960-311G=
c.262-4G= (n.262-4G=)
c.3709-4G= (n.3709-4G=)
c.3769-4G= (n.3769-4G=)
c.3421-4G= (n.3421-4G=)
c.3250-4G= (n.3250-4G=)
c.3136-4G= (n.3136-4G=)
c.2698-4G= (n.2698-4G=)
n.3966-4G=
3g.46999886C>ACA2665493210NBEAL2c.3790-3C>A (n.3790-3C>A)
c.3688-3C>A (n.3688-3C>A)
n.127-3C>A
c.1960-310C>A
c.262-3C>A (n.262-3C>A)
c.3709-3C>A (n.3709-3C>A)
c.3769-3C>A (n.3769-3C>A)
c.3421-3C>A (n.3421-3C>A)
c.3250-3C>A (n.3250-3C>A)
c.3136-3C>A (n.3136-3C>A)
c.2698-3C>A (n.2698-3C>A)
n.3966-3C>A
 gnomAD v4
3g.46999886C=CA1362362913NBEAL2c.3790-3C= (n.3790-3C=)
c.3688-3C= (n.3688-3C=)
n.127-3C=
c.1960-310C=
c.262-3C= (n.262-3C=)
c.3709-3C= (n.3709-3C=)
c.3769-3C= (n.3769-3C=)
c.3421-3C= (n.3421-3C=)
c.3250-3C= (n.3250-3C=)
c.3136-3C= (n.3136-3C=)
c.2698-3C= (n.2698-3C=)
n.3966-3C=
3g.46999886C>TCA1362362914NBEAL2c.3790-3C>T (n.3790-3C>T)
c.3688-3C>T (n.3688-3C>T)
n.127-3C>T
c.1960-310C>T
c.262-3C>T (n.262-3C>T)
c.3709-3C>T (n.3709-3C>T)
c.3769-3C>T (n.3769-3C>T)
c.3421-3C>T (n.3421-3C>T)
c.3250-3C>T (n.3250-3C>T)
c.3136-3C>T (n.3136-3C>T)
c.2698-3C>T (n.2698-3C>T)
n.3966-3C>T
 dbSNP gnomAD v4
3g.46999887A>CCA352515354NBEAL2c.3790-2A>C (n.3790-2A>C)
c.3688-2A>C (n.3688-2A>C)
n.127-2A>C
c.1960-309A>C
c.262-2A>C (n.262-2A>C)
c.3709-2A>C (n.3709-2A>C)
c.3769-2A>C (n.3769-2A>C)
c.3421-2A>C (n.3421-2A>C)
c.3250-2A>C (n.3250-2A>C)
c.3136-2A>C (n.3136-2A>C)
c.2698-2A>C (n.2698-2A>C)
n.3966-2A>C
3g.46999887A>GCA352515352NBEAL2c.3790-2A>G (n.3790-2A>G)
c.3688-2A>G (n.3688-2A>G)
n.127-2A>G
c.1960-309A>G
c.262-2A>G (n.262-2A>G)
c.3709-2A>G (n.3709-2A>G)
c.3769-2A>G (n.3769-2A>G)
c.3421-2A>G (n.3421-2A>G)
c.3250-2A>G (n.3250-2A>G)
c.3136-2A>G (n.3136-2A>G)
c.2698-2A>G (n.2698-2A>G)
n.3966-2A>G
3g.46999887A>TCA352515353NBEAL2c.3790-2A>T (n.3790-2A>T)
c.3688-2A>T (n.3688-2A>T)
n.127-2A>T
c.1960-309A>T
c.262-2A>T (n.262-2A>T)
c.3709-2A>T (n.3709-2A>T)
c.3769-2A>T (n.3769-2A>T)
c.3421-2A>T (n.3421-2A>T)
c.3250-2A>T (n.3250-2A>T)
c.3136-2A>T (n.3136-2A>T)
c.2698-2A>T (n.2698-2A>T)
n.3966-2A>T
3g.46999888G>ACA352515355NBEAL2c.3790-1G>A (n.3790-1G>A)
c.3688-1G>A (n.3688-1G>A)
n.127-1G>A
c.1960-308G>A
c.262-1G>A (n.262-1G>A)
c.3709-1G>A (n.3709-1G>A)
c.3769-1G>A (n.3769-1G>A)
c.3421-1G>A (n.3421-1G>A)
c.3250-1G>A (n.3250-1G>A)
c.3136-1G>A (n.3136-1G>A)
c.2698-1G>A (n.2698-1G>A)
n.3966-1G>A
 gnomAD v4
3g.46999888G>CCA352515356NBEAL2c.3790-1G>C (n.3790-1G>C)
c.3688-1G>C (n.3688-1G>C)
n.127-1G>C
c.1960-308G>C
c.262-1G>C (n.262-1G>C)
c.3709-1G>C (n.3709-1G>C)
c.3769-1G>C (n.3769-1G>C)
c.3421-1G>C (n.3421-1G>C)
c.3250-1G>C (n.3250-1G>C)
c.3136-1G>C (n.3136-1G>C)
c.2698-1G>C (n.2698-1G>C)
n.3966-1G>C
3g.46999888G>TCA352515357NBEAL2c.3790-1G>T (n.3790-1G>T)
c.3688-1G>T (n.3688-1G>T)
n.127-1G>T
c.1960-308G>T
c.262-1G>T (n.262-1G>T)
c.3709-1G>T (n.3709-1G>T)
c.3769-1G>T (n.3769-1G>T)
c.3421-1G>T (n.3421-1G>T)
c.3250-1G>T (n.3250-1G>T)
c.3136-1G>T (n.3136-1G>T)
c.2698-1G>T (n.2698-1G>T)
n.3966-1G>T
3g.46999889C>ACA352515358NBEAL2c.3790C>A (p.Leu1264Ile)
c.3688C>A (p.Leu1230Ile)
n.127C>A
c.1960-307C>A
c.262C>A (p.Leu88Ile)
c.3709C>A (p.Leu1237Ile)
c.3769C>A (p.Leu1257Ile)
c.3421C>A (p.Leu1141Ile)
c.3250C>A (p.Leu1084Ile)
c.3136C>A (p.Leu1046Ile)
c.2698C>A (p.Leu900Ile)
n.3966C>A
3g.46999889C=CA1362362915NBEAL2c.3790C= (p.Leu1264=)
c.3688C= (p.Leu1230=)
n.127C=
c.1960-307C=
c.262C= (p.Leu88=)
c.3709C= (p.Leu1237=)
c.3769C= (p.Leu1257=)
c.3421C= (p.Leu1141=)
c.3250C= (p.Leu1084=)
c.3136C= (p.Leu1046=)
c.2698C= (p.Leu900=)
n.3966C=
3g.46999889C>GCA352515359NBEAL2c.3790C>G (p.Leu1264Val)
c.3688C>G (p.Leu1230Val)
n.127C>G
c.1960-307C>G
c.262C>G (p.Leu88Val)
c.3709C>G (p.Leu1237Val)
c.3769C>G (p.Leu1257Val)
c.3421C>G (p.Leu1141Val)
c.3250C>G (p.Leu1084Val)
c.3136C>G (p.Leu1046Val)
c.2698C>G (p.Leu900Val)
n.3966C>G
3g.46999889C>TCA352515360NBEAL2c.3790C>T (p.Leu1264Phe)
c.3688C>T (p.Leu1230Phe)
n.127C>T
c.1960-307C>T
c.262C>T (p.Leu88Phe)
c.3709C>T (p.Leu1237Phe)
c.3769C>T (p.Leu1257Phe)
c.3421C>T (p.Leu1141Phe)
c.3250C>T (p.Leu1084Phe)
c.3136C>T (p.Leu1046Phe)
c.2698C>T (p.Leu900Phe)
n.3966C>T
 dbSNP
3g.46999890T>ACA352515361NBEAL2c.3791T>A (p.Leu1264His)
c.3689T>A (p.Leu1230His)
n.128T>A
c.1960-306T>A
c.263T>A (p.Leu88His)
c.3710T>A (p.Leu1237His)
c.3770T>A (p.Leu1257His)
c.3422T>A (p.Leu1141His)
c.3251T>A (p.Leu1084His)
c.3137T>A (p.Leu1046His)
c.2699T>A (p.Leu900His)
n.3967T>A
3g.46999890T>CCA352515362NBEAL2c.3791T>C (p.Leu1264Pro)
c.3689T>C (p.Leu1230Pro)
n.128T>C
c.1960-306T>C
c.263T>C (p.Leu88Pro)
c.3710T>C (p.Leu1237Pro)
c.3770T>C (p.Leu1257Pro)
c.3422T>C (p.Leu1141Pro)
c.3251T>C (p.Leu1084Pro)
c.3137T>C (p.Leu1046Pro)
c.2699T>C (p.Leu900Pro)
n.3967T>C
3g.46999890T>GCA352515363NBEAL2c.3791T>G (p.Leu1264Arg)
c.3689T>G (p.Leu1230Arg)
n.128T>G
c.1960-306T>G
c.263T>G (p.Leu88Arg)
c.3710T>G (p.Leu1237Arg)
c.3770T>G (p.Leu1257Arg)
c.3422T>G (p.Leu1141Arg)
c.3251T>G (p.Leu1084Arg)
c.3137T>G (p.Leu1046Arg)
c.2699T>G (p.Leu900Arg)
n.3967T>G
3g.46999893delCA2665493212NBEAL2c.3794del (p.Phe1265SerfsTer10)
c.3692del (p.Phe1231SerfsTer10)
n.131del
c.1960-303del
c.266del (p.Phe89SerfsTer10)
c.3713del (p.Phe1238SerfsTer10)
c.3773del (p.Phe1258SerfsTer10)
c.3425del (p.Phe1142SerfsTer10)
c.3254del (p.Phe1085SerfsTer10)
c.3140del (p.Phe1047SerfsTer10)
c.2702del (p.Phe901SerfsTer10)
n.3970del
 gnomAD v4
3g.46999891T>ACA433477086NBEAL2c.3792T>A (p.Leu1264=)
c.3690T>A (p.Leu1230=)
n.129T>A
c.1960-305T>A
c.264T>A (p.Leu88=)
c.3711T>A (p.Leu1237=)
c.3771T>A (p.Leu1257=)
c.3423T>A (p.Leu1141=)
c.3252T>A (p.Leu1084=)
c.3138T>A (p.Leu1046=)
c.2700T>A (p.Leu900=)
n.3968T>A
3g.46999891T>CCA433477084NBEAL2c.3792T>C (p.Leu1264=)
c.3690T>C (p.Leu1230=)
n.129T>C
c.1960-305T>C
c.264T>C (p.Leu88=)
c.3711T>C (p.Leu1237=)
c.3771T>C (p.Leu1257=)
c.3423T>C (p.Leu1141=)
c.3252T>C (p.Leu1084=)
c.3138T>C (p.Leu1046=)
c.2700T>C (p.Leu900=)
n.3968T>C
3g.46999891T>GCA433477085NBEAL2c.3792T>G (p.Leu1264=)
c.3690T>G (p.Leu1230=)
n.129T>G
c.1960-305T>G
c.264T>G (p.Leu88=)
c.3711T>G (p.Leu1237=)
c.3771T>G (p.Leu1257=)
c.3423T>G (p.Leu1141=)
c.3252T>G (p.Leu1084=)
c.3138T>G (p.Leu1046=)
c.2700T>G (p.Leu900=)
n.3968T>G
3g.46999892T>ACA352515364NBEAL2c.3793T>A (p.Phe1265Ile)
c.3691T>A (p.Phe1231Ile)
n.130T>A
c.1960-304T>A
c.265T>A (p.Phe89Ile)
c.3712T>A (p.Phe1238Ile)
c.3772T>A (p.Phe1258Ile)
c.3424T>A (p.Phe1142Ile)
c.3253T>A (p.Phe1085Ile)
c.3139T>A (p.Phe1047Ile)
c.2701T>A (p.Phe901Ile)
n.3969T>A
3g.46999892T>CCA352515365NBEAL2c.3793T>C (p.Phe1265Leu)
c.3691T>C (p.Phe1231Leu)
n.130T>C
c.1960-304T>C
c.265T>C (p.Phe89Leu)
c.3712T>C (p.Phe1238Leu)
c.3772T>C (p.Phe1258Leu)
c.3424T>C (p.Phe1142Leu)
c.3253T>C (p.Phe1085Leu)
c.3139T>C (p.Phe1047Leu)
c.2701T>C (p.Phe901Leu)
n.3969T>C
3g.46999892T>GCA352515366NBEAL2c.3793T>G (p.Phe1265Val)
c.3691T>G (p.Phe1231Val)
n.130T>G
c.1960-304T>G
c.265T>G (p.Phe89Val)
c.3712T>G (p.Phe1238Val)
c.3772T>G (p.Phe1258Val)
c.3424T>G (p.Phe1142Val)
c.3253T>G (p.Phe1085Val)
c.3139T>G (p.Phe1047Val)
c.2701T>G (p.Phe901Val)
n.3969T>G
3g.46999893T>ACA352515369NBEAL2c.3794T>A (p.Phe1265Tyr)
c.3692T>A (p.Phe1231Tyr)
n.131T>A
c.1960-303T>A
c.266T>A (p.Phe89Tyr)
c.3713T>A (p.Phe1238Tyr)
c.3773T>A (p.Phe1258Tyr)
c.3425T>A (p.Phe1142Tyr)
c.3254T>A (p.Phe1085Tyr)
c.3140T>A (p.Phe1047Tyr)
c.2702T>A (p.Phe901Tyr)
n.3970T>A
3g.46999893T>CCA352515368NBEAL2c.3794T>C (p.Phe1265Ser)
c.3692T>C (p.Phe1231Ser)
n.131T>C
c.1960-303T>C
c.266T>C (p.Phe89Ser)
c.3713T>C (p.Phe1238Ser)
c.3773T>C (p.Phe1258Ser)
c.3425T>C (p.Phe1142Ser)
c.3254T>C (p.Phe1085Ser)
c.3140T>C (p.Phe1047Ser)
c.2702T>C (p.Phe901Ser)
n.3970T>C
3g.46999893T>GCA352515367NBEAL2c.3794T>G (p.Phe1265Cys)
c.3692T>G (p.Phe1231Cys)
n.131T>G
c.1960-303T>G
c.266T>G (p.Phe89Cys)
c.3713T>G (p.Phe1238Cys)
c.3773T>G (p.Phe1258Cys)
c.3425T>G (p.Phe1142Cys)
c.3254T>G (p.Phe1085Cys)
c.3140T>G (p.Phe1047Cys)
c.2702T>G (p.Phe901Cys)
n.3970T>G
 gnomAD v4
3g.46999894C>ACA352515371NBEAL2c.3795C>A (p.Phe1265Leu)
c.3693C>A (p.Phe1231Leu)
n.132C>A
c.1960-302C>A
c.267C>A (p.Phe89Leu)
c.3714C>A (p.Phe1238Leu)
c.3774C>A (p.Phe1258Leu)
c.3426C>A (p.Phe1142Leu)
c.3255C>A (p.Phe1085Leu)
c.3141C>A (p.Phe1047Leu)
c.2703C>A (p.Phe901Leu)
n.3971C>A
3g.46999894C=CA1362362916NBEAL2c.3795C= (p.Phe1265=)
c.3693C= (p.Phe1231=)
n.132C=
c.1960-302C=
c.267C= (p.Phe89=)
c.3714C= (p.Phe1238=)
c.3774C= (p.Phe1258=)
c.3426C= (p.Phe1142=)
c.3255C= (p.Phe1085=)
c.3141C= (p.Phe1047=)
c.2703C= (p.Phe901=)
n.3971C=
3g.46999894C>GCA352515370NBEAL2c.3795C>G (p.Phe1265Leu)
c.3693C>G (p.Phe1231Leu)
n.132C>G
c.1960-302C>G
c.267C>G (p.Phe89Leu)
c.3714C>G (p.Phe1238Leu)
c.3774C>G (p.Phe1258Leu)
c.3426C>G (p.Phe1142Leu)
c.3255C>G (p.Phe1085Leu)
c.3141C>G (p.Phe1047Leu)
c.2703C>G (p.Phe901Leu)
n.3971C>G
3g.46999894C>TCA433477087NBEAL2c.3795C>T (p.Phe1265=)
c.3693C>T (p.Phe1231=)
n.132C>T
c.1960-302C>T
c.267C>T (p.Phe89=)
c.3714C>T (p.Phe1238=)
c.3774C>T (p.Phe1258=)
c.3426C>T (p.Phe1142=)
c.3255C>T (p.Phe1085=)
c.3141C>T (p.Phe1047=)
c.2703C>T (p.Phe901=)
n.3971C>T
 dbSNP gnomAD v2 gnomAD v4
3g.46999895C>ACA352515372NBEAL2c.3796C>A (p.His1266Asn)
c.3694C>A (p.His1232Asn)
n.133C>A
c.1960-301C>A
c.268C>A (p.His90Asn)
c.3715C>A (p.His1239Asn)
c.3775C>A (p.His1259Asn)
c.3427C>A (p.His1143Asn)
c.3256C>A (p.His1086Asn)
c.3142C>A (p.His1048Asn)
c.2704C>A (p.His902Asn)
n.3972C>A
3g.46999895C=CA1362362917NBEAL2c.3796C= (p.His1266=)
c.3694C= (p.His1232=)
n.133C=
c.1960-301C=
c.268C= (p.His90=)
c.3715C= (p.His1239=)
c.3775C= (p.His1259=)
c.3427C= (p.His1143=)
c.3256C= (p.His1086=)
c.3142C= (p.His1048=)
c.2704C= (p.His902=)
n.3972C=
3g.46999895C>GCA352515373NBEAL2c.3796C>G (p.His1266Asp)
c.3694C>G (p.His1232Asp)
n.133C>G
c.1960-301C>G
c.268C>G (p.His90Asp)
c.3715C>G (p.His1239Asp)
c.3775C>G (p.His1259Asp)
c.3427C>G (p.His1143Asp)
c.3256C>G (p.His1086Asp)
c.3142C>G (p.His1048Asp)
c.2704C>G (p.His902Asp)
n.3972C>G
3g.46999895C>TCA352515374NBEAL2c.3796C>T (p.His1266Tyr)
c.3694C>T (p.His1232Tyr)
n.133C>T
c.1960-301C>T
c.268C>T (p.His90Tyr)
c.3715C>T (p.His1239Tyr)
c.3775C>T (p.His1259Tyr)
c.3427C>T (p.His1143Tyr)
c.3256C>T (p.His1086Tyr)
c.3142C>T (p.His1048Tyr)
c.2704C>T (p.His902Tyr)
n.3972C>T
 dbSNP gnomAD v2 gnomAD v4
3g.46999896A>CCA352515375NBEAL2c.3797A>C (p.His1266Pro)
c.3695A>C (p.His1232Pro)
n.134A>C
c.1960-300A>C
c.269A>C (p.His90Pro)
c.3716A>C (p.His1239Pro)
c.3776A>C (p.His1259Pro)
c.3428A>C (p.His1143Pro)
c.3257A>C (p.His1086Pro)
c.3143A>C (p.His1048Pro)
c.2705A>C (p.His902Pro)
n.3973A>C
3g.46999896A>GCA352515376NBEAL2c.3797A>G (p.His1266Arg)
c.3695A>G (p.His1232Arg)
n.134A>G
c.1960-300A>G
c.269A>G (p.His90Arg)
c.3716A>G (p.His1239Arg)
c.3776A>G (p.His1259Arg)
c.3428A>G (p.His1143Arg)
c.3257A>G (p.His1086Arg)
c.3143A>G (p.His1048Arg)
c.2705A>G (p.His902Arg)
n.3973A>G
3g.46999896A>TCA352515377NBEAL2c.3797A>T (p.His1266Leu)
c.3695A>T (p.His1232Leu)
n.134A>T
c.1960-300A>T
c.269A>T (p.His90Leu)
c.3716A>T (p.His1239Leu)
c.3776A>T (p.His1259Leu)
c.3428A>T (p.His1143Leu)
c.3257A>T (p.His1086Leu)
c.3143A>T (p.His1048Leu)
c.2705A>T (p.His902Leu)
n.3973A>T
3g.46999897C>ACA352515378NBEAL2c.3798C>A (p.His1266Gln)
c.3696C>A (p.His1232Gln)
n.135C>A
c.1960-299C>A
c.270C>A (p.His90Gln)
c.3717C>A (p.His1239Gln)
c.3777C>A (p.His1259Gln)
c.3429C>A (p.His1143Gln)
c.3258C>A (p.His1086Gln)
c.3144C>A (p.His1048Gln)
c.2706C>A (p.His902Gln)
n.3974C>A
3g.46999897C>GCA352515379NBEAL2c.3798C>G (p.His1266Gln)
c.3696C>G (p.His1232Gln)
n.135C>G
c.1960-299C>G
c.270C>G (p.His90Gln)
c.3717C>G (p.His1239Gln)
c.3777C>G (p.His1259Gln)
c.3429C>G (p.His1143Gln)
c.3258C>G (p.His1086Gln)
c.3144C>G (p.His1048Gln)
c.2706C>G (p.His902Gln)
n.3974C>G
3g.46999897C>TCA433477091NBEAL2c.3798C>T (p.His1266=)
c.3696C>T (p.His1232=)
n.135C>T
c.1960-299C>T
c.270C>T (p.His90=)
c.3717C>T (p.His1239=)
c.3777C>T (p.His1259=)
c.3429C>T (p.His1143=)
c.3258C>T (p.His1086=)
c.3144C>T (p.His1048=)
c.2706C>T (p.His902=)
n.3974C>T
3g.46999898C>ACA352515380NBEAL2c.3799C>A (p.Leu1267Ile)
c.3697C>A (p.Leu1233Ile)
n.136C>A
c.1960-298C>A
c.271C>A (p.Leu91Ile)
c.3718C>A (p.Leu1240Ile)
c.3778C>A (p.Leu1260Ile)
c.3430C>A (p.Leu1144Ile)
c.3259C>A (p.Leu1087Ile)
c.3145C>A (p.Leu1049Ile)
c.2707C>A (p.Leu903Ile)
n.3975C>A
3g.46999898C>GCA352515381NBEAL2c.3799C>G (p.Leu1267Val)
c.3697C>G (p.Leu1233Val)
n.136C>G
c.1960-298C>G
c.271C>G (p.Leu91Val)
c.3718C>G (p.Leu1240Val)
c.3778C>G (p.Leu1260Val)
c.3430C>G (p.Leu1144Val)
c.3259C>G (p.Leu1087Val)
c.3145C>G (p.Leu1049Val)
c.2707C>G (p.Leu903Val)
n.3975C>G
3g.46999898C>TCA352515382NBEAL2c.3799C>T (p.Leu1267Phe)
c.3697C>T (p.Leu1233Phe)
n.136C>T
c.1960-298C>T
c.271C>T (p.Leu91Phe)
c.3718C>T (p.Leu1240Phe)
c.3778C>T (p.Leu1260Phe)
c.3430C>T (p.Leu1144Phe)
c.3259C>T (p.Leu1087Phe)
c.3145C>T (p.Leu1049Phe)
c.2707C>T (p.Leu903Phe)
n.3975C>T
3g.46999899T>ACA352515385NBEAL2c.3800T>A (p.Leu1267His)
c.3698T>A (p.Leu1233His)
n.137T>A
c.1960-297T>A
c.272T>A (p.Leu91His)
c.3719T>A (p.Leu1240His)
c.3779T>A (p.Leu1260His)
c.3431T>A (p.Leu1144His)
c.3260T>A (p.Leu1087His)
c.3146T>A (p.Leu1049His)
c.2708T>A (p.Leu903His)
n.3976T>A
3g.46999899T>CCA352515384NBEAL2c.3800T>C (p.Leu1267Pro)
c.3698T>C (p.Leu1233Pro)
n.137T>C
c.1960-297T>C
c.272T>C (p.Leu91Pro)
c.3719T>C (p.Leu1240Pro)
c.3779T>C (p.Leu1260Pro)
c.3431T>C (p.Leu1144Pro)
c.3260T>C (p.Leu1087Pro)
c.3146T>C (p.Leu1049Pro)
c.2708T>C (p.Leu903Pro)
n.3976T>C
3g.46999899T>GCA352515383NBEAL2c.3800T>G (p.Leu1267Arg)
c.3698T>G (p.Leu1233Arg)
n.137T>G
c.1960-297T>G
c.272T>G (p.Leu91Arg)
c.3719T>G (p.Leu1240Arg)
c.3779T>G (p.Leu1260Arg)
c.3431T>G (p.Leu1144Arg)
c.3260T>G (p.Leu1087Arg)
c.3146T>G (p.Leu1049Arg)
c.2708T>G (p.Leu903Arg)
n.3976T>G
3g.46999900C>ACA433477095NBEAL2c.3801C>A (p.Leu1267=)
c.3699C>A (p.Leu1233=)
n.138C>A
c.1960-296C>A
c.273C>A (p.Leu91=)
c.3720C>A (p.Leu1240=)
c.3780C>A (p.Leu1260=)
c.3432C>A (p.Leu1144=)
c.3261C>A (p.Leu1087=)
c.3147C>A (p.Leu1049=)
c.2709C>A (p.Leu903=)
n.3977C>A
 dbSNP
3g.46999900C>GCA433477096NBEAL2c.3801C>G (p.Leu1267=)
c.3699C>G (p.Leu1233=)
n.138C>G
c.1960-296C>G
c.273C>G (p.Leu91=)
c.3720C>G (p.Leu1240=)
c.3780C>G (p.Leu1260=)
c.3432C>G (p.Leu1144=)
c.3261C>G (p.Leu1087=)
c.3147C>G (p.Leu1049=)
c.2709C>G (p.Leu903=)
n.3977C>G
3g.46999900C>TCA433477097NBEAL2c.3801C>T (p.Leu1267=)
c.3699C>T (p.Leu1233=)
n.138C>T
c.1960-296C>T
c.273C>T (p.Leu91=)
c.3720C>T (p.Leu1240=)
c.3780C>T (p.Leu1260=)
c.3432C>T (p.Leu1144=)
c.3261C>T (p.Leu1087=)
c.3147C>T (p.Leu1049=)
c.2709C>T (p.Leu903=)
n.3977C>T
3g.46999901A>CCA352515386NBEAL2c.3802A>C (p.Ile1268Leu)
c.3700A>C (p.Ile1234Leu)
n.139A>C
c.1960-295A>C
c.274A>C (p.Ile92Leu)
c.3721A>C (p.Ile1241Leu)
c.3781A>C (p.Ile1261Leu)
c.3433A>C (p.Ile1145Leu)
c.3262A>C (p.Ile1088Leu)
c.3148A>C (p.Ile1050Leu)
c.2710A>C (p.Ile904Leu)
n.3978A>C
3g.46999901A>GCA352515387NBEAL2c.3802A>G (p.Ile1268Val)
c.3700A>G (p.Ile1234Val)
n.139A>G
c.1960-295A>G
c.274A>G (p.Ile92Val)
c.3721A>G (p.Ile1241Val)
c.3781A>G (p.Ile1261Val)
c.3433A>G (p.Ile1145Val)
c.3262A>G (p.Ile1088Val)
c.3148A>G (p.Ile1050Val)
c.2710A>G (p.Ile904Val)
n.3978A>G
3g.46999901A>TCA352515388NBEAL2c.3802A>T (p.Ile1268Phe)
c.3700A>T (p.Ile1234Phe)
n.139A>T
c.1960-295A>T
c.274A>T (p.Ile92Phe)
c.3721A>T (p.Ile1241Phe)
c.3781A>T (p.Ile1261Phe)
c.3433A>T (p.Ile1145Phe)
c.3262A>T (p.Ile1088Phe)
c.3148A>T (p.Ile1050Phe)
c.2710A>T (p.Ile904Phe)
n.3978A>T
3g.46999902T>ACA352515389NBEAL2c.3803T>A (p.Ile1268Asn)
c.3701T>A (p.Ile1234Asn)
n.140T>A
c.1960-294T>A
c.275T>A (p.Ile92Asn)
c.3722T>A (p.Ile1241Asn)
c.3782T>A (p.Ile1261Asn)
c.3434T>A (p.Ile1145Asn)
c.3263T>A (p.Ile1088Asn)
c.3149T>A (p.Ile1050Asn)
c.2711T>A (p.Ile904Asn)
n.3979T>A
3g.46999902T>CCA352515390NBEAL2c.3803T>C (p.Ile1268Thr)
c.3701T>C (p.Ile1234Thr)
n.140T>C
c.1960-294T>C
c.275T>C (p.Ile92Thr)
c.3722T>C (p.Ile1241Thr)
c.3782T>C (p.Ile1261Thr)
c.3434T>C (p.Ile1145Thr)
c.3263T>C (p.Ile1088Thr)
c.3149T>C (p.Ile1050Thr)
c.2711T>C (p.Ile904Thr)
n.3979T>C
 ClinVar dbSNP gnomAD v4
3g.46999902T>GCA352515391NBEAL2c.3803T>G (p.Ile1268Ser)
c.3701T>G (p.Ile1234Ser)
n.140T>G
c.1960-294T>G
c.275T>G (p.Ile92Ser)
c.3722T>G (p.Ile1241Ser)
c.3782T>G (p.Ile1261Ser)
c.3434T>G (p.Ile1145Ser)
c.3263T>G (p.Ile1088Ser)
c.3149T>G (p.Ile1050Ser)
c.2711T>G (p.Ile904Ser)
n.3979T>G
3g.46999903C>ACA433477101NBEAL2c.3804C>A (p.Ile1268=)
c.3702C>A (p.Ile1234=)
n.141C>A
c.1960-293C>A
c.276C>A (p.Ile92=)
c.3723C>A (p.Ile1241=)
c.3783C>A (p.Ile1261=)
c.3435C>A (p.Ile1145=)
c.3264C>A (p.Ile1088=)
c.3150C>A (p.Ile1050=)
c.2712C>A (p.Ile904=)
n.3980C>A
3g.46999903C=CA1362362918NBEAL2c.3804C= (p.Ile1268=)
c.3702C= (p.Ile1234=)
n.141C=
c.1960-293C=
c.276C= (p.Ile92=)
c.3723C= (p.Ile1241=)
c.3783C= (p.Ile1261=)
c.3435C= (p.Ile1145=)
c.3264C= (p.Ile1088=)
c.3150C= (p.Ile1050=)
c.2712C= (p.Ile904=)
n.3980C=
3g.46999903C>GCA2361083NBEAL2c.3804C>G (p.Ile1268Met)
c.3702C>G (p.Ile1234Met)
n.141C>G
c.1960-293C>G
c.276C>G (p.Ile92Met)
c.3723C>G (p.Ile1241Met)
c.3783C>G (p.Ile1261Met)
c.3435C>G (p.Ile1145Met)
c.3264C>G (p.Ile1088Met)
c.3150C>G (p.Ile1050Met)
c.2712C>G (p.Ile904Met)
n.3980C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.46999903C>TCA433477102NBEAL2c.3804C>T (p.Ile1268=)
c.3702C>T (p.Ile1234=)
n.141C>T
c.1960-293C>T
c.276C>T (p.Ile92=)
c.3723C>T (p.Ile1241=)
c.3783C>T (p.Ile1261=)
c.3435C>T (p.Ile1145=)
c.3264C>T (p.Ile1088=)
c.3150C>T (p.Ile1050=)
c.2712C>T (p.Ile904=)
n.3980C>T
3g.46999904T>ACA352515392NBEAL2c.3805T>A (p.Tyr1269Asn)
c.3703T>A (p.Tyr1235Asn)
n.142T>A
c.1960-292T>A
c.277T>A (p.Tyr93Asn)
c.3724T>A (p.Tyr1242Asn)
c.3784T>A (p.Tyr1262Asn)
c.3436T>A (p.Tyr1146Asn)
c.3265T>A (p.Tyr1089Asn)
c.3151T>A (p.Tyr1051Asn)
c.2713T>A (p.Tyr905Asn)
n.3981T>A
3g.46999904T>CCA352515393NBEAL2c.3805T>C (p.Tyr1269His)
c.3703T>C (p.Tyr1235His)
n.142T>C
c.1960-292T>C
c.277T>C (p.Tyr93His)
c.3724T>C (p.Tyr1242His)
c.3784T>C (p.Tyr1262His)
c.3436T>C (p.Tyr1146His)
c.3265T>C (p.Tyr1089His)
c.3151T>C (p.Tyr1051His)
c.2713T>C (p.Tyr905His)
n.3981T>C
 gnomAD v4
3g.46999904T>GCA352515394NBEAL2c.3805T>G (p.Tyr1269Asp)
c.3703T>G (p.Tyr1235Asp)
n.142T>G
c.1960-292T>G
c.277T>G (p.Tyr93Asp)
c.3724T>G (p.Tyr1242Asp)
c.3784T>G (p.Tyr1262Asp)
c.3436T>G (p.Tyr1146Asp)
c.3265T>G (p.Tyr1089Asp)
c.3151T>G (p.Tyr1051Asp)
c.2713T>G (p.Tyr905Asp)
n.3981T>G
3g.46999905A>CCA352515395NBEAL2c.3806A>C (p.Tyr1269Ser)
c.3704A>C (p.Tyr1235Ser)
n.143A>C
c.1960-291A>C
c.278A>C (p.Tyr93Ser)
c.3725A>C (p.Tyr1242Ser)
c.3785A>C (p.Tyr1262Ser)
c.3437A>C (p.Tyr1146Ser)
c.3266A>C (p.Tyr1089Ser)
c.3152A>C (p.Tyr1051Ser)
c.2714A>C (p.Tyr905Ser)
n.3982A>C
3g.46999905A>GCA352515396NBEAL2c.3806A>G (p.Tyr1269Cys)
c.3704A>G (p.Tyr1235Cys)
n.143A>G
c.1960-291A>G
c.278A>G (p.Tyr93Cys)
c.3725A>G (p.Tyr1242Cys)
c.3785A>G (p.Tyr1262Cys)
c.3437A>G (p.Tyr1146Cys)
c.3266A>G (p.Tyr1089Cys)
c.3152A>G (p.Tyr1051Cys)
c.2714A>G (p.Tyr905Cys)
n.3982A>G
 gnomAD v4
3g.46999905A>TCA352515397NBEAL2c.3806A>T (p.Tyr1269Phe)
c.3704A>T (p.Tyr1235Phe)
n.143A>T
c.1960-291A>T
c.278A>T (p.Tyr93Phe)
c.3725A>T (p.Tyr1242Phe)
c.3785A>T (p.Tyr1262Phe)
c.3437A>T (p.Tyr1146Phe)
c.3266A>T (p.Tyr1089Phe)
c.3152A>T (p.Tyr1051Phe)
c.2714A>T (p.Tyr905Phe)
n.3982A>T
3g.46999906C>ACA352515398NBEAL2c.3807C>A (p.Tyr1269Ter)
c.3705C>A (p.Tyr1235Ter)
n.144C>A
c.1960-290C>A
c.279C>A (p.Tyr93Ter)
c.3726C>A (p.Tyr1242Ter)
c.3786C>A (p.Tyr1262Ter)
c.3438C>A (p.Tyr1146Ter)
c.3267C>A (p.Tyr1089Ter)
c.3153C>A (p.Tyr1051Ter)
c.2715C>A (p.Tyr905Ter)
n.3983C>A
3g.46999906C=CA1362362919NBEAL2c.3807C= (p.Tyr1269=)
c.3705C= (p.Tyr1235=)
n.144C=
c.1960-290C=
c.279C= (p.Tyr93=)
c.3726C= (p.Tyr1242=)
c.3786C= (p.Tyr1262=)
c.3438C= (p.Tyr1146=)
c.3267C= (p.Tyr1089=)
c.3153C= (p.Tyr1051=)
c.2715C= (p.Tyr905=)
n.3983C=
3g.46999906C>GCA352515399NBEAL2c.3807C>G (p.Tyr1269Ter)
c.3705C>G (p.Tyr1235Ter)
n.144C>G
c.1960-290C>G
c.279C>G (p.Tyr93Ter)
c.3726C>G (p.Tyr1242Ter)
c.3786C>G (p.Tyr1262Ter)
c.3438C>G (p.Tyr1146Ter)
c.3267C>G (p.Tyr1089Ter)
c.3153C>G (p.Tyr1051Ter)
c.2715C>G (p.Tyr905Ter)
n.3983C>G
3g.46999906C>TCA2361084NBEAL2c.3807C>T (p.Tyr1269=)
c.3705C>T (p.Tyr1235=)
n.144C>T
c.1960-290C>T
c.279C>T (p.Tyr93=)
c.3726C>T (p.Tyr1242=)
c.3786C>T (p.Tyr1262=)
c.3438C>T (p.Tyr1146=)
c.3267C>T (p.Tyr1089=)
c.3153C>T (p.Tyr1051=)
c.2715C>T (p.Tyr905=)
n.3983C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.46999907G>ACA2361085NBEAL2c.3808G>A (p.Gly1270Arg)
c.3706G>A (p.Gly1236Arg)
n.145G>A
c.1960-289G>A
c.280G>A (p.Gly94Arg)
c.3727G>A (p.Gly1243Arg)
c.3787G>A (p.Gly1263Arg)
c.3439G>A (p.Gly1147Arg)
c.3268G>A (p.Gly1090Arg)
c.3154G>A (p.Gly1052Arg)
c.2716G>A (p.Gly906Arg)
n.3984G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.46999907G>CCA352515401NBEAL2c.3808G>C (p.Gly1270Arg)
c.3706G>C (p.Gly1236Arg)
n.145G>C
c.1960-289G>C
c.280G>C (p.Gly94Arg)
c.3727G>C (p.Gly1243Arg)
c.3787G>C (p.Gly1263Arg)
c.3439G>C (p.Gly1147Arg)
c.3268G>C (p.Gly1090Arg)
c.3154G>C (p.Gly1052Arg)
c.2716G>C (p.Gly906Arg)
n.3984G>C
 gnomAD v4
3g.46999907G=CA1362362920NBEAL2c.3808G= (p.Gly1270=)
c.3706G= (p.Gly1236=)
n.145G=
c.1960-289G=
c.280G= (p.Gly94=)
c.3727G= (p.Gly1243=)
c.3787G= (p.Gly1263=)
c.3439G= (p.Gly1147=)
c.3268G= (p.Gly1090=)
c.3154G= (p.Gly1052=)
c.2716G= (p.Gly906=)
n.3984G=
3g.46999907G>TCA352515400NBEAL2c.3808G>T (p.Gly1270Ter)
c.3706G>T (p.Gly1236Ter)
n.145G>T
c.1960-289G>T
c.280G>T (p.Gly94Ter)
c.3727G>T (p.Gly1243Ter)
c.3787G>T (p.Gly1263Ter)
c.3439G>T (p.Gly1147Ter)
c.3268G>T (p.Gly1090Ter)
c.3154G>T (p.Gly1052Ter)
c.2716G>T (p.Gly906Ter)
n.3984G>T
3g.46999908G>ACA352515402NBEAL2c.3809G>A (p.Gly1270Glu)
c.3707G>A (p.Gly1236Glu)
n.146G>A
c.1960-288G>A
c.281G>A (p.Gly94Glu)
c.3728G>A (p.Gly1243Glu)
c.3788G>A (p.Gly1263Glu)
c.3440G>A (p.Gly1147Glu)
c.3269G>A (p.Gly1090Glu)
c.3155G>A (p.Gly1052Glu)
c.2717G>A (p.Gly906Glu)
n.3985G>A
3g.46999908G>CCA352515403NBEAL2c.3809G>C (p.Gly1270Ala)
c.3707G>C (p.Gly1236Ala)
n.146G>C
c.1960-288G>C
c.281G>C (p.Gly94Ala)
c.3728G>C (p.Gly1243Ala)
c.3788G>C (p.Gly1263Ala)
c.3440G>C (p.Gly1147Ala)
c.3269G>C (p.Gly1090Ala)
c.3155G>C (p.Gly1052Ala)
c.2717G>C (p.Gly906Ala)
n.3985G>C
3g.46999908G>TCA352515404NBEAL2c.3809G>T (p.Gly1270Val)
c.3707G>T (p.Gly1236Val)
n.146G>T
c.1960-288G>T
c.281G>T (p.Gly94Val)
c.3728G>T (p.Gly1243Val)
c.3788G>T (p.Gly1263Val)
c.3440G>T (p.Gly1147Val)
c.3269G>T (p.Gly1090Val)
c.3155G>T (p.Gly1052Val)
c.2717G>T (p.Gly906Val)
n.3985G>T
3g.46999909A>CCA433477104NBEAL2c.3810A>C (p.Gly1270=)
c.3708A>C (p.Gly1236=)
n.147A>C
c.1960-287A>C
c.282A>C (p.Gly94=)
c.3729A>C (p.Gly1243=)
c.3789A>C (p.Gly1263=)
c.3441A>C (p.Gly1147=)
c.3270A>C (p.Gly1090=)
c.3156A>C (p.Gly1052=)
c.2718A>C (p.Gly906=)
n.3986A>C
3g.46999909A>GCA433477105NBEAL2c.3810A>G (p.Gly1270=)
c.3708A>G (p.Gly1236=)
n.147A>G
c.1960-287A>G
c.282A>G (p.Gly94=)
c.3729A>G (p.Gly1243=)
c.3789A>G (p.Gly1263=)
c.3441A>G (p.Gly1147=)
c.3270A>G (p.Gly1090=)
c.3156A>G (p.Gly1052=)
c.2718A>G (p.Gly906=)
n.3986A>G
3g.46999909A>TCA433477106NBEAL2c.3810A>T (p.Gly1270=)
c.3708A>T (p.Gly1236=)
n.147A>T
c.1960-287A>T
c.282A>T (p.Gly94=)
c.3729A>T (p.Gly1243=)
c.3789A>T (p.Gly1263=)
c.3441A>T (p.Gly1147=)
c.3270A>T (p.Gly1090=)
c.3156A>T (p.Gly1052=)
c.2718A>T (p.Gly906=)
n.3986A>T
3g.46999910C>ACA352515405NBEAL2c.3811C>A (p.Gln1271Lys)
c.3709C>A (p.Gln1237Lys)
n.148C>A
c.1960-286C>A
c.283C>A (p.Gln95Lys)
c.3730C>A (p.Gln1244Lys)
c.3790C>A (p.Gln1264Lys)
c.3442C>A (p.Gln1148Lys)
c.3271C>A (p.Gln1091Lys)
c.3157C>A (p.Gln1053Lys)
c.2719C>A (p.Gln907Lys)
n.3987C>A
3g.46999910C>GCA352515406NBEAL2c.3811C>G (p.Gln1271Glu)
c.3709C>G (p.Gln1237Glu)
n.148C>G
c.1960-286C>G
c.283C>G (p.Gln95Glu)
c.3730C>G (p.Gln1244Glu)
c.3790C>G (p.Gln1264Glu)
c.3442C>G (p.Gln1148Glu)
c.3271C>G (p.Gln1091Glu)
c.3157C>G (p.Gln1053Glu)
c.2719C>G (p.Gln907Glu)
n.3987C>G
3g.46999910C>TCA352515407NBEAL2c.3811C>T (p.Gln1271Ter)
c.3709C>T (p.Gln1237Ter)
n.148C>T
c.1960-286C>T
c.283C>T (p.Gln95Ter)
c.3730C>T (p.Gln1244Ter)
c.3790C>T (p.Gln1264Ter)
c.3442C>T (p.Gln1148Ter)
c.3271C>T (p.Gln1091Ter)
c.3157C>T (p.Gln1053Ter)
c.2719C>T (p.Gln907Ter)
n.3987C>T
3g.46999911A>CCA352515408NBEAL2c.3812A>C (p.Gln1271Pro)
c.3710A>C (p.Gln1237Pro)
n.149A>C
c.1960-285A>C
c.284A>C (p.Gln95Pro)
c.3731A>C (p.Gln1244Pro)
c.3791A>C (p.Gln1264Pro)
c.3443A>C (p.Gln1148Pro)
c.3272A>C (p.Gln1091Pro)
c.3158A>C (p.Gln1053Pro)
c.2720A>C (p.Gln907Pro)
n.3988A>C
3g.46999911A>GCA352515409NBEAL2c.3812A>G (p.Gln1271Arg)
c.3710A>G (p.Gln1237Arg)
n.149A>G
c.1960-285A>G
c.284A>G (p.Gln95Arg)
c.3731A>G (p.Gln1244Arg)
c.3791A>G (p.Gln1264Arg)
c.3443A>G (p.Gln1148Arg)
c.3272A>G (p.Gln1091Arg)
c.3158A>G (p.Gln1053Arg)
c.2720A>G (p.Gln907Arg)
n.3988A>G
3g.46999911A>TCA352515410NBEAL2c.3812A>T (p.Gln1271Leu)
c.3710A>T (p.Gln1237Leu)
n.149A>T
c.1960-285A>T
c.284A>T (p.Gln95Leu)
c.3731A>T (p.Gln1244Leu)
c.3791A>T (p.Gln1264Leu)
c.3443A>T (p.Gln1148Leu)
c.3272A>T (p.Gln1091Leu)
c.3158A>T (p.Gln1053Leu)
c.2720A>T (p.Gln907Leu)
n.3988A>T
3g.46999912G>ACA433477107NBEAL2c.3813G>A (p.Gln1271=)
c.3711G>A (p.Gln1237=)
n.150G>A
c.1960-284G>A
c.285G>A (p.Gln95=)
c.3732G>A (p.Gln1244=)
c.3792G>A (p.Gln1264=)
c.3444G>A (p.Gln1148=)
c.3273G>A (p.Gln1091=)
c.3159G>A (p.Gln1053=)
c.2721G>A (p.Gln907=)
n.3989G>A
 dbSNP gnomAD v2 gnomAD v4
3g.46999912G>CCA352515411NBEAL2c.3813G>C (p.Gln1271His)
c.3711G>C (p.Gln1237His)
n.150G>C
c.1960-284G>C
c.285G>C (p.Gln95His)
c.3732G>C (p.Gln1244His)
c.3792G>C (p.Gln1264His)
c.3444G>C (p.Gln1148His)
c.3273G>C (p.Gln1091His)
c.3159G>C (p.Gln1053His)
c.2721G>C (p.Gln907His)
n.3989G>C
3g.46999912G=CA1362362921NBEAL2c.3813G= (p.Gln1271=)
c.3711G= (p.Gln1237=)
n.150G=
c.1960-284G=
c.285G= (p.Gln95=)
c.3732G= (p.Gln1244=)
c.3792G= (p.Gln1264=)
c.3444G= (p.Gln1148=)
c.3273G= (p.Gln1091=)
c.3159G= (p.Gln1053=)
c.2721G= (p.Gln907=)
n.3989G=
3g.46999912G>TCA352515412NBEAL2c.3813G>T (p.Gln1271His)
c.3711G>T (p.Gln1237His)
n.150G>T
c.1960-284G>T
c.285G>T (p.Gln95His)
c.3732G>T (p.Gln1244His)
c.3792G>T (p.Gln1264His)
c.3444G>T (p.Gln1148His)
c.3273G>T (p.Gln1091His)
c.3159G>T (p.Gln1053His)
c.2721G>T (p.Gln907His)
n.3989G>T
3g.46999913C>ACA352515415NBEAL2c.3814C>A (p.Pro1272Thr)
c.3712C>A (p.Pro1238Thr)
n.151C>A
c.1960-283C>A
c.286C>A (p.Pro96Thr)
c.3733C>A (p.Pro1245Thr)
c.3793C>A (p.Pro1265Thr)
c.3445C>A (p.Pro1149Thr)
c.3274C>A (p.Pro1092Thr)
c.3160C>A (p.Pro1054Thr)
c.2722C>A (p.Pro908Thr)
n.3990C>A
3g.46999913C=CA1362362922NBEAL2c.3814C= (p.Pro1272=)
c.3712C= (p.Pro1238=)
n.151C=
c.1960-283C=
c.286C= (p.Pro96=)
c.3733C= (p.Pro1245=)
c.3793C= (p.Pro1265=)
c.3445C= (p.Pro1149=)
c.3274C= (p.Pro1092=)
c.3160C= (p.Pro1054=)
c.2722C= (p.Pro908=)
n.3990C=
3g.46999913C>GCA352515414NBEAL2c.3814C>G (p.Pro1272Ala)
c.3712C>G (p.Pro1238Ala)
n.151C>G
c.1960-283C>G
c.286C>G (p.Pro96Ala)
c.3733C>G (p.Pro1245Ala)
c.3793C>G (p.Pro1265Ala)
c.3445C>G (p.Pro1149Ala)
c.3274C>G (p.Pro1092Ala)
c.3160C>G (p.Pro1054Ala)
c.2722C>G (p.Pro908Ala)
n.3990C>G
3g.46999913C>TCA352515413NBEAL2c.3814C>T (p.Pro1272Ser)
c.3712C>T (p.Pro1238Ser)
n.151C>T
c.1960-283C>T
c.286C>T (p.Pro96Ser)
c.3733C>T (p.Pro1245Ser)
c.3793C>T (p.Pro1265Ser)
c.3445C>T (p.Pro1149Ser)
c.3274C>T (p.Pro1092Ser)
c.3160C>T (p.Pro1054Ser)
c.2722C>T (p.Pro908Ser)
n.3990C>T
 dbSNP gnomAD v2 gnomAD v4
3g.46999914C>ACA352515416NBEAL2c.3815C>A (p.Pro1272Gln)
c.3713C>A (p.Pro1238Gln)
n.152C>A
c.1960-282C>A
c.287C>A (p.Pro96Gln)
c.3734C>A (p.Pro1245Gln)
c.3794C>A (p.Pro1265Gln)
c.3446C>A (p.Pro1149Gln)
c.3275C>A (p.Pro1092Gln)
c.3161C>A (p.Pro1054Gln)
c.2723C>A (p.Pro908Gln)
n.3991C>A
3g.46999914C=CA1362362923NBEAL2c.3815C= (p.Pro1272=)
c.3713C= (p.Pro1238=)
n.152C=
c.1960-282C=
c.287C= (p.Pro96=)
c.3734C= (p.Pro1245=)
c.3794C= (p.Pro1265=)
c.3446C= (p.Pro1149=)
c.3275C= (p.Pro1092=)
c.3161C= (p.Pro1054=)
c.2723C= (p.Pro908=)
n.3991C=
3g.46999914C>GCA352515417NBEAL2c.3815C>G (p.Pro1272Arg)
c.3713C>G (p.Pro1238Arg)
n.152C>G
c.1960-282C>G
c.287C>G (p.Pro96Arg)
c.3734C>G (p.Pro1245Arg)
c.3794C>G (p.Pro1265Arg)
c.3446C>G (p.Pro1149Arg)
c.3275C>G (p.Pro1092Arg)
c.3161C>G (p.Pro1054Arg)
c.2723C>G (p.Pro908Arg)
n.3991C>G
3g.46999914C>TCA352515418NBEAL2c.3815C>T (p.Pro1272Leu)
c.3713C>T (p.Pro1238Leu)
n.152C>T
c.1960-282C>T
c.287C>T (p.Pro96Leu)
c.3734C>T (p.Pro1245Leu)
c.3794C>T (p.Pro1265Leu)
c.3446C>T (p.Pro1149Leu)
c.3275C>T (p.Pro1092Leu)
c.3161C>T (p.Pro1054Leu)
c.2723C>T (p.Pro908Leu)
n.3991C>T
 dbSNP
3g.46999915A=CA1362362924NBEAL2c.3816A= (p.Pro1272=)
c.3714A= (p.Pro1238=)
n.153A=
c.1960-281A=
c.288A= (p.Pro96=)
c.3735A= (p.Pro1245=)
c.3795A= (p.Pro1265=)
c.3447A= (p.Pro1149=)
c.3276A= (p.Pro1092=)
c.3162A= (p.Pro1054=)
c.2724A= (p.Pro908=)
n.3992A=
3g.46999915A>CCA433477111NBEAL2c.3816A>C (p.Pro1272=)
c.3714A>C (p.Pro1238=)
n.153A>C
c.1960-281A>C
c.288A>C (p.Pro96=)
c.3735A>C (p.Pro1245=)
c.3795A>C (p.Pro1265=)
c.3447A>C (p.Pro1149=)
c.3276A>C (p.Pro1092=)
c.3162A>C (p.Pro1054=)
c.2724A>C (p.Pro908=)
n.3992A>C
3g.46999915A>GCA433477112NBEAL2c.3816A>G (p.Pro1272=)
c.3714A>G (p.Pro1238=)
n.153A>G
c.1960-281A>G
c.288A>G (p.Pro96=)
c.3735A>G (p.Pro1245=)
c.3795A>G (p.Pro1265=)
c.3447A>G (p.Pro1149=)
c.3276A>G (p.Pro1092=)
c.3162A>G (p.Pro1054=)
c.2724A>G (p.Pro908=)
n.3992A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.46999915A>TCA433477113NBEAL2c.3816A>T (p.Pro1272=)
c.3714A>T (p.Pro1238=)
n.153A>T
c.1960-281A>T
c.288A>T (p.Pro96=)
c.3735A>T (p.Pro1245=)
c.3795A>T (p.Pro1265=)
c.3447A>T (p.Pro1149=)
c.3276A>T (p.Pro1092=)
c.3162A>T (p.Pro1054=)
c.2724A>T (p.Pro908=)
n.3992A>T
3g.46999916G>ACA352515419NBEAL2c.3817G>A (p.Asp1273Asn)
c.3715G>A (p.Asp1239Asn)
n.154G>A
c.1960-280G>A
c.289G>A (p.Asp97Asn)
c.3736G>A (p.Asp1246Asn)
c.3796G>A (p.Asp1266Asn)
c.3448G>A (p.Asp1150Asn)
c.3277G>A (p.Asp1093Asn)
c.3163G>A (p.Asp1055Asn)
c.2725G>A (p.Asp909Asn)
n.3993G>A
 gnomAD v4
3g.46999916G>CCA352515420NBEAL2c.3817G>C (p.Asp1273His)
c.3715G>C (p.Asp1239His)
n.154G>C
c.1960-280G>C
c.289G>C (p.Asp97His)
c.3736G>C (p.Asp1246His)
c.3796G>C (p.Asp1266His)
c.3448G>C (p.Asp1150His)
c.3277G>C (p.Asp1093His)
c.3163G>C (p.Asp1055His)
c.2725G>C (p.Asp909His)
n.3993G>C
3g.46999916G>TCA352515421NBEAL2c.3817G>T (p.Asp1273Tyr)
c.3715G>T (p.Asp1239Tyr)
n.154G>T
c.1960-280G>T
c.289G>T (p.Asp97Tyr)
c.3736G>T (p.Asp1246Tyr)
c.3796G>T (p.Asp1266Tyr)
c.3448G>T (p.Asp1150Tyr)
c.3277G>T (p.Asp1093Tyr)
c.3163G>T (p.Asp1055Tyr)
c.2725G>T (p.Asp909Tyr)
n.3993G>T
3g.46999917A>CCA352515422NBEAL2c.3818A>C (p.Asp1273Ala)
c.3716A>C (p.Asp1239Ala)
n.155A>C
c.1960-279A>C
c.290A>C (p.Asp97Ala)
c.3737A>C (p.Asp1246Ala)
c.3797A>C (p.Asp1266Ala)
c.3449A>C (p.Asp1150Ala)
c.3278A>C (p.Asp1093Ala)
c.3164A>C (p.Asp1055Ala)
c.2726A>C (p.Asp909Ala)
n.3994A>C
3g.46999917A>GCA352515423NBEAL2c.3818A>G (p.Asp1273Gly)
c.3716A>G (p.Asp1239Gly)
n.155A>G
c.1960-279A>G
c.290A>G (p.Asp97Gly)
c.3737A>G (p.Asp1246Gly)
c.3797A>G (p.Asp1266Gly)
c.3449A>G (p.Asp1150Gly)
c.3278A>G (p.Asp1093Gly)
c.3164A>G (p.Asp1055Gly)
c.2726A>G (p.Asp909Gly)
n.3994A>G
3g.46999917A>TCA352515424NBEAL2c.3818A>T (p.Asp1273Val)
c.3716A>T (p.Asp1239Val)
n.155A>T
c.1960-279A>T
c.290A>T (p.Asp97Val)
c.3737A>T (p.Asp1246Val)
c.3797A>T (p.Asp1266Val)
c.3449A>T (p.Asp1150Val)
c.3278A>T (p.Asp1093Val)
c.3164A>T (p.Asp1055Val)
c.2726A>T (p.Asp909Val)
n.3994A>T
3g.46999918T>ACA352515425NBEAL2c.3819T>A (p.Asp1273Glu)
c.3717T>A (p.Asp1239Glu)
n.156T>A
c.1960-278T>A
c.291T>A (p.Asp97Glu)
c.3738T>A (p.Asp1246Glu)
c.3798T>A (p.Asp1266Glu)
c.3450T>A (p.Asp1150Glu)
c.3279T>A (p.Asp1093Glu)
c.3165T>A (p.Asp1055Glu)
c.2727T>A (p.Asp909Glu)
n.3995T>A
3g.46999918T>CCA433477115NBEAL2c.3819T>C (p.Asp1273=)
c.3717T>C (p.Asp1239=)
n.156T>C
c.1960-278T>C
c.291T>C (p.Asp97=)
c.3738T>C (p.Asp1246=)
c.3798T>C (p.Asp1266=)
c.3450T>C (p.Asp1150=)
c.3279T>C (p.Asp1093=)
c.3165T>C (p.Asp1055=)
c.2727T>C (p.Asp909=)
n.3995T>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.46999918T>GCA352515426NBEAL2c.3819T>G (p.Asp1273Glu)
c.3717T>G (p.Asp1239Glu)
n.156T>G
c.1960-278T>G
c.291T>G (p.Asp97Glu)
c.3738T>G (p.Asp1246Glu)
c.3798T>G (p.Asp1266Glu)
c.3450T>G (p.Asp1150Glu)
c.3279T>G (p.Asp1093Glu)
c.3165T>G (p.Asp1055Glu)
c.2727T>G (p.Asp909Glu)
n.3995T>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.46999918T=CA1362362925NBEAL2c.3819T= (p.Asp1273=)
c.3717T= (p.Asp1239=)
n.156T=
c.1960-278T=
c.291T= (p.Asp97=)
c.3738T= (p.Asp1246=)
c.3798T= (p.Asp1266=)
c.3450T= (p.Asp1150=)
c.3279T= (p.Asp1093=)
c.3165T= (p.Asp1055=)
c.2727T= (p.Asp909=)
n.3995T=
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.46999919delCA2577577259NBEAL2c.3820del (p.Val1274Ter)
c.3718del (p.Val1240Ter)
n.157del
c.1960-277del
c.292del (p.Val98Ter)
c.3739del (p.Val1247Ter)
c.3799del (p.Val1267Ter)
c.3451del (p.Val1151Ter)
c.3280del (p.Val1094Ter)
c.3166del (p.Val1056Ter)
c.2728del (p.Val910Ter)
n.3996del
3g.46999919G>ACA352515429NBEAL2c.3820G>A (p.Val1274Ile)
c.3718G>A (p.Val1240Ile)
n.157G>A
c.1960-277G>A
c.292G>A (p.Val98Ile)
c.3739G>A (p.Val1247Ile)
c.3799G>A (p.Val1267Ile)
c.3451G>A (p.Val1151Ile)
c.3280G>A (p.Val1094Ile)
c.3166G>A (p.Val1056Ile)
c.2728G>A (p.Val910Ile)
n.3996G>A
 dbSNP gnomAD v3 gnomAD v4
3g.46999919G>CCA352515428NBEAL2c.3820G>C (p.Val1274Leu)
c.3718G>C (p.Val1240Leu)
n.157G>C
c.1960-277G>C
c.292G>C (p.Val98Leu)
c.3739G>C (p.Val1247Leu)
c.3799G>C (p.Val1267Leu)
c.3451G>C (p.Val1151Leu)
c.3280G>C (p.Val1094Leu)
c.3166G>C (p.Val1056Leu)
c.2728G>C (p.Val910Leu)
n.3996G>C
3g.46999919G=CA1362362926NBEAL2c.3820G= (p.Val1274=)
c.3718G= (p.Val1240=)
n.157G=
c.1960-277G=
c.292G= (p.Val98=)
c.3739G= (p.Val1247=)
c.3799G= (p.Val1267=)
c.3451G= (p.Val1151=)
c.3280G= (p.Val1094=)
c.3166G= (p.Val1056=)
c.2728G= (p.Val910=)
n.3996G=
3g.46999919G>TCA352515427NBEAL2c.3820G>T (p.Val1274Leu)
c.3718G>T (p.Val1240Leu)
n.157G>T
c.1960-277G>T
c.292G>T (p.Val98Leu)
c.3739G>T (p.Val1247Leu)
c.3799G>T (p.Val1267Leu)
c.3451G>T (p.Val1151Leu)
c.3280G>T (p.Val1094Leu)
c.3166G>T (p.Val1056Leu)
c.2728G>T (p.Val910Leu)
n.3996G>T
3g.46999921_46999923dupCA907614372NBEAL2c.3822_3824dup (p.Val1275_Arg1276insVal)
c.3720_3722dup (p.Val1241_Arg1242insVal)
n.159_161dup
c.1960-275_1960-273dup
c.294_296dup (p.Val99_Arg100insVal)
c.3741_3743dup (p.Val1248_Arg1249insVal)
c.3801_3803dup (p.Val1268_Arg1269insVal)
c.3453_3455dup (p.Val1152_Arg1153insVal)
c.3282_3284dup (p.Val1095_Arg1096insVal)
c.3168_3170dup (p.Val1057_Arg1058insVal)
c.2730_2732dup (p.Val911_Arg912insVal)
n.3998_4000dup
 dbSNP
3g.46999920T>ACA352515430NBEAL2c.3821T>A (p.Val1274Glu)
c.3719T>A (p.Val1240Glu)
n.158T>A
c.1960-276T>A
c.293T>A (p.Val98Glu)
c.3740T>A (p.Val1247Glu)
c.3800T>A (p.Val1267Glu)
c.3452T>A (p.Val1151Glu)
c.3281T>A (p.Val1094Glu)
c.3167T>A (p.Val1056Glu)
c.2729T>A (p.Val910Glu)
n.3997T>A
3g.46999920T>CCA352515431NBEAL2c.3821T>C (p.Val1274Ala)
c.3719T>C (p.Val1240Ala)
n.158T>C
c.1960-276T>C
c.293T>C (p.Val98Ala)
c.3740T>C (p.Val1247Ala)
c.3800T>C (p.Val1267Ala)
c.3452T>C (p.Val1151Ala)
c.3281T>C (p.Val1094Ala)
c.3167T>C (p.Val1056Ala)
c.2729T>C (p.Val910Ala)
n.3997T>C
3g.46999920T>GCA352515432NBEAL2c.3821T>G (p.Val1274Gly)
c.3719T>G (p.Val1240Gly)
n.158T>G
c.1960-276T>G
c.293T>G (p.Val98Gly)
c.3740T>G (p.Val1247Gly)
c.3800T>G (p.Val1267Gly)
c.3452T>G (p.Val1151Gly)
c.3281T>G (p.Val1094Gly)
c.3167T>G (p.Val1056Gly)
c.2729T>G (p.Val910Gly)
n.3997T>G
3g.46999921A>CCA433477119NBEAL2c.3822A>C (p.Val1274=)
c.3720A>C (p.Val1240=)
n.159A>C
c.1960-275A>C
c.294A>C (p.Val98=)
c.3741A>C (p.Val1247=)
c.3801A>C (p.Val1267=)
c.3453A>C (p.Val1151=)
c.3282A>C (p.Val1094=)
c.3168A>C (p.Val1056=)
c.2730A>C (p.Val910=)
n.3998A>C
3g.46999921A>GCA433477118NBEAL2c.3822A>G (p.Val1274=)
c.3720A>G (p.Val1240=)
n.159A>G
c.1960-275A>G
c.294A>G (p.Val98=)
c.3741A>G (p.Val1247=)
c.3801A>G (p.Val1267=)
c.3453A>G (p.Val1151=)
c.3282A>G (p.Val1094=)
c.3168A>G (p.Val1056=)
c.2730A>G (p.Val910=)
n.3998A>G
3g.46999921A>TCA433477117NBEAL2c.3822A>T (p.Val1274=)
c.3720A>T (p.Val1240=)
n.159A>T
c.1960-275A>T
c.294A>T (p.Val98=)
c.3741A>T (p.Val1247=)
c.3801A>T (p.Val1267=)
c.3453A>T (p.Val1151=)
c.3282A>T (p.Val1094=)
c.3168A>T (p.Val1056=)
c.2730A>T (p.Val910=)
n.3998A>T
3g.46999922G>ACA2361086NBEAL2c.3823G>A (p.Val1275Met)
c.3721G>A (p.Val1241Met)
n.160G>A
c.1960-274G>A
c.295G>A (p.Val99Met)
c.3742G>A (p.Val1248Met)
c.3802G>A (p.Val1268Met)
c.3454G>A (p.Val1152Met)
c.3283G>A (p.Val1095Met)
c.3169G>A (p.Val1057Met)
c.2731G>A (p.Val911Met)
n.3999G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.46999922G>CCA352515433NBEAL2c.3823G>C (p.Val1275Leu)
c.3721G>C (p.Val1241Leu)
n.160G>C
c.1960-274G>C
c.295G>C (p.Val99Leu)
c.3742G>C (p.Val1248Leu)
c.3802G>C (p.Val1268Leu)
c.3454G>C (p.Val1152Leu)
c.3283G>C (p.Val1095Leu)
c.3169G>C (p.Val1057Leu)
c.2731G>C (p.Val911Leu)
n.3999G>C
3g.46999922G=CA1362362927NBEAL2c.3823G= (p.Val1275=)
c.3721G= (p.Val1241=)
n.160G=
c.1960-274G=
c.295G= (p.Val99=)
c.3742G= (p.Val1248=)
c.3802G= (p.Val1268=)
c.3454G= (p.Val1152=)
c.3283G= (p.Val1095=)
c.3169G= (p.Val1057=)
c.2731G= (p.Val911=)
n.3999G=
3g.46999922G>TCA352515434NBEAL2c.3823G>T (p.Val1275Leu)
c.3721G>T (p.Val1241Leu)
n.160G>T
c.1960-274G>T
c.295G>T (p.Val99Leu)
c.3742G>T (p.Val1248Leu)
c.3802G>T (p.Val1268Leu)
c.3454G>T (p.Val1152Leu)
c.3283G>T (p.Val1095Leu)
c.3169G>T (p.Val1057Leu)
c.2731G>T (p.Val911Leu)
n.3999G>T
 gnomAD v4
3g.46999923T>ACA352515437NBEAL2c.3824T>A (p.Val1275Glu)
c.3722T>A (p.Val1241Glu)
n.161T>A
c.1960-273T>A
c.296T>A (p.Val99Glu)
c.3743T>A (p.Val1248Glu)
c.3803T>A (p.Val1268Glu)
c.3455T>A (p.Val1152Glu)
c.3284T>A (p.Val1095Glu)
c.3170T>A (p.Val1057Glu)
c.2732T>A (p.Val911Glu)
n.4000T>A
3g.46999923T>CCA352515435NBEAL2c.3824T>C (p.Val1275Ala)
c.3722T>C (p.Val1241Ala)
n.161T>C
c.1960-273T>C
c.296T>C (p.Val99Ala)
c.3743T>C (p.Val1248Ala)
c.3803T>C (p.Val1268Ala)
c.3455T>C (p.Val1152Ala)
c.3284T>C (p.Val1095Ala)
c.3170T>C (p.Val1057Ala)
c.2732T>C (p.Val911Ala)
n.4000T>C
3g.46999923T>GCA352515436NBEAL2c.3824T>G (p.Val1275Gly)
c.3722T>G (p.Val1241Gly)
n.161T>G
c.1960-273T>G
c.296T>G (p.Val99Gly)
c.3743T>G (p.Val1248Gly)
c.3803T>G (p.Val1268Gly)
c.3455T>G (p.Val1152Gly)
c.3284T>G (p.Val1095Gly)
c.3170T>G (p.Val1057Gly)
c.2732T>G (p.Val911Gly)
n.4000T>G
 COSMIC
3g.46999924G>ACA433477120NBEAL2c.3825G>A (p.Val1275=)
c.3723G>A (p.Val1241=)
n.162G>A
c.1960-272G>A
c.297G>A (p.Val99=)
c.3744G>A (p.Val1248=)
c.3804G>A (p.Val1268=)
c.3456G>A (p.Val1152=)
c.3285G>A (p.Val1095=)
c.3171G>A (p.Val1057=)
c.2733G>A (p.Val911=)
n.4001G>A
 dbSNP gnomAD v4
3g.46999924G>CCA433477122NBEAL2c.3825G>C (p.Val1275=)
c.3723G>C (p.Val1241=)
n.162G>C
c.1960-272G>C
c.297G>C (p.Val99=)
c.3744G>C (p.Val1248=)
c.3804G>C (p.Val1268=)
c.3456G>C (p.Val1152=)
c.3285G>C (p.Val1095=)
c.3171G>C (p.Val1057=)
c.2733G>C (p.Val911=)
n.4001G>C
3g.46999924G=CA1362362928NBEAL2c.3825G= (p.Val1275=)
c.3723G= (p.Val1241=)
n.162G=
c.1960-272G=
c.297G= (p.Val99=)
c.3744G= (p.Val1248=)
c.3804G= (p.Val1268=)
c.3456G= (p.Val1152=)
c.3285G= (p.Val1095=)
c.3171G= (p.Val1057=)
c.2733G= (p.Val911=)
n.4001G=
3g.46999924G>TCA433477121NBEAL2c.3825G>T (p.Val1275=)
c.3723G>T (p.Val1241=)
n.162G>T
c.1960-272G>T
c.297G>T (p.Val99=)
c.3744G>T (p.Val1248=)
c.3804G>T (p.Val1268=)
c.3456G>T (p.Val1152=)
c.3285G>T (p.Val1095=)
c.3171G>T (p.Val1057=)
c.2733G>T (p.Val911=)
n.4001G>T
3g.46999925C>ACA433477123NBEAL2c.3826C>A (p.Arg1276=)
c.3724C>A (p.Arg1242=)
n.163C>A
c.1960-271C>A
c.298C>A (p.Arg100=)
c.3745C>A (p.Arg1249=)
c.3805C>A (p.Arg1269=)
c.3457C>A (p.Arg1153=)
c.3286C>A (p.Arg1096=)
c.3172C>A (p.Arg1058=)
c.2734C>A (p.Arg912=)
n.4002C>A
3g.46999925C=CA1362362929NBEAL2c.3826C= (p.Arg1276=)
c.3724C= (p.Arg1242=)
n.163C=
c.1960-271C=
c.298C= (p.Arg100=)
c.3745C= (p.Arg1249=)
c.3805C= (p.Arg1269=)
c.3457C= (p.Arg1153=)
c.3286C= (p.Arg1096=)
c.3172C= (p.Arg1058=)
c.2734C= (p.Arg912=)
n.4002C=
3g.46999925C>GCA352515438NBEAL2c.3826C>G (p.Arg1276Gly)
c.3724C>G (p.Arg1242Gly)
n.163C>G
c.1960-271C>G
c.298C>G (p.Arg100Gly)
c.3745C>G (p.Arg1249Gly)
c.3805C>G (p.Arg1269Gly)
c.3457C>G (p.Arg1153Gly)
c.3286C>G (p.Arg1096Gly)
c.3172C>G (p.Arg1058Gly)
c.2734C>G (p.Arg912Gly)
n.4002C>G
 dbSNP
3g.46999925C>TCA2361087NBEAL2c.3826C>T (p.Arg1276Trp)
c.3724C>T (p.Arg1242Trp)
n.163C>T
c.1960-271C>T
c.298C>T (p.Arg100Trp)
c.3745C>T (p.Arg1249Trp)
c.3805C>T (p.Arg1269Trp)
c.3457C>T (p.Arg1153Trp)
c.3286C>T (p.Arg1096Trp)
c.3172C>T (p.Arg1058Trp)
c.2734C>T (p.Arg912Trp)
n.4002C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.46999926G>ACA2361088NBEAL2c.3827G>A (p.Arg1276Gln)
c.3725G>A (p.Arg1242Gln)
n.164G>A
c.1960-270G>A
c.299G>A (p.Arg100Gln)
c.3746G>A (p.Arg1249Gln)
c.3806G>A (p.Arg1269Gln)
c.3458G>A (p.Arg1153Gln)
c.3287G>A (p.Arg1096Gln)
c.3173G>A (p.Arg1058Gln)
c.2735G>A (p.Arg912Gln)
n.4003G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.46999926G>CCA352515439NBEAL2c.3827G>C (p.Arg1276Pro)
c.3725G>C (p.Arg1242Pro)
n.164G>C
c.1960-270G>C
c.299G>C (p.Arg100Pro)
c.3746G>C (p.Arg1249Pro)
c.3806G>C (p.Arg1269Pro)
c.3458G>C (p.Arg1153Pro)
c.3287G>C (p.Arg1096Pro)
c.3173G>C (p.Arg1058Pro)
c.2735G>C (p.Arg912Pro)
n.4003G>C
 dbSNP
3g.46999926G=CA1362362930NBEAL2c.3827G= (p.Arg1276=)
c.3725G= (p.Arg1242=)
n.164G=
c.1960-270G=
c.299G= (p.Arg100=)
c.3746G= (p.Arg1249=)
c.3806G= (p.Arg1269=)
c.3458G= (p.Arg1153=)
c.3287G= (p.Arg1096=)
c.3173G= (p.Arg1058=)
c.2735G= (p.Arg912=)
n.4003G=
3g.46999926G>TCA352515440NBEAL2c.3827G>T (p.Arg1276Leu)
c.3725G>T (p.Arg1242Leu)
n.164G>T
c.1960-270G>T
c.299G>T (p.Arg100Leu)
c.3746G>T (p.Arg1249Leu)
c.3806G>T (p.Arg1269Leu)
c.3458G>T (p.Arg1153Leu)
c.3287G>T (p.Arg1096Leu)
c.3173G>T (p.Arg1058Leu)
c.2735G>T (p.Arg912Leu)
n.4003G>T
3g.46999927G>ACA433477124NBEAL2c.3828G>A (p.Arg1276=)
c.3726G>A (p.Arg1242=)
n.165G>A
c.1960-269G>A
c.300G>A (p.Arg100=)
c.3747G>A (p.Arg1249=)
c.3807G>A (p.Arg1269=)
c.3459G>A (p.Arg1153=)
c.3288G>A (p.Arg1096=)
c.3174G>A (p.Arg1058=)
c.2736G>A (p.Arg912=)
n.4004G>A
3g.46999927G>CCA433477125NBEAL2c.3828G>C (p.Arg1276=)
c.3726G>C (p.Arg1242=)
n.165G>C
c.1960-269G>C
c.300G>C (p.Arg100=)
c.3747G>C (p.Arg1249=)
c.3807G>C (p.Arg1269=)
c.3459G>C (p.Arg1153=)
c.3288G>C (p.Arg1096=)
c.3174G>C (p.Arg1058=)
c.2736G>C (p.Arg912=)
n.4004G>C
3g.46999927G>TCA433477126NBEAL2c.3828G>T (p.Arg1276=)
c.3726G>T (p.Arg1242=)
n.165G>T
c.1960-269G>T
c.300G>T (p.Arg100=)
c.3747G>T (p.Arg1249=)
c.3807G>T (p.Arg1269=)
c.3459G>T (p.Arg1153=)
c.3288G>T (p.Arg1096=)
c.3174G>T (p.Arg1058=)
c.2736G>T (p.Arg912=)
n.4004G>T
3g.46999928C>ACA352515441NBEAL2c.3829C>A (p.Leu1277Ile)
c.3727C>A (p.Leu1243Ile)
n.166C>A
c.1960-268C>A
c.301C>A (p.Leu101Ile)
c.3748C>A (p.Leu1250Ile)
c.3808C>A (p.Leu1270Ile)
c.3460C>A (p.Leu1154Ile)
c.3289C>A (p.Leu1097Ile)
c.3175C>A (p.Leu1059Ile)
c.2737C>A (p.Leu913Ile)
n.4005C>A
3g.46999928C>GCA352515443NBEAL2c.3829C>G (p.Leu1277Val)
c.3727C>G (p.Leu1243Val)
n.166C>G
c.1960-268C>G
c.301C>G (p.Leu101Val)
c.3748C>G (p.Leu1250Val)
c.3808C>G (p.Leu1270Val)
c.3460C>G (p.Leu1154Val)
c.3289C>G (p.Leu1097Val)
c.3175C>G (p.Leu1059Val)
c.2737C>G (p.Leu913Val)
n.4005C>G
3g.46999928C>TCA352515442NBEAL2c.3829C>T (p.Leu1277Phe)
c.3727C>T (p.Leu1243Phe)
n.166C>T
c.1960-268C>T
c.301C>T (p.Leu101Phe)
c.3748C>T (p.Leu1250Phe)
c.3808C>T (p.Leu1270Phe)
c.3460C>T (p.Leu1154Phe)
c.3289C>T (p.Leu1097Phe)
c.3175C>T (p.Leu1059Phe)
c.2737C>T (p.Leu913Phe)
n.4005C>T
3g.46999929T>ACA352515444NBEAL2c.3830T>A (p.Leu1277His)
c.3728T>A (p.Leu1243His)
n.167T>A
c.1960-267T>A
c.302T>A (p.Leu101His)
c.3749T>A (p.Leu1250His)
c.3809T>A (p.Leu1270His)
c.3461T>A (p.Leu1154His)
c.3290T>A (p.Leu1097His)
c.3176T>A (p.Leu1059His)
c.2738T>A (p.Leu913His)
n.4006T>A
3g.46999929T>CCA352515445NBEAL2c.3830T>C (p.Leu1277Pro)
c.3728T>C (p.Leu1243Pro)
n.167T>C
c.1960-267T>C
c.302T>C (p.Leu101Pro)
c.3749T>C (p.Leu1250Pro)
c.3809T>C (p.Leu1270Pro)
c.3461T>C (p.Leu1154Pro)
c.3290T>C (p.Leu1097Pro)
c.3176T>C (p.Leu1059Pro)
c.2738T>C (p.Leu913Pro)
n.4006T>C
3g.46999929T>GCA352515446NBEAL2c.3830T>G (p.Leu1277Arg)
c.3728T>G (p.Leu1243Arg)
n.167T>G
c.1960-267T>G
c.302T>G (p.Leu101Arg)
c.3749T>G (p.Leu1250Arg)
c.3809T>G (p.Leu1270Arg)
c.3461T>G (p.Leu1154Arg)
c.3290T>G (p.Leu1097Arg)
c.3176T>G (p.Leu1059Arg)
c.2738T>G (p.Leu913Arg)
n.4006T>G
3g.46999930T>ACA433477127NBEAL2c.3831T>A (p.Leu1277=)
c.3729T>A (p.Leu1243=)
n.168T>A
c.1960-266T>A
c.303T>A (p.Leu101=)
c.3750T>A (p.Leu1250=)
c.3810T>A (p.Leu1270=)
c.3462T>A (p.Leu1154=)
c.3291T>A (p.Leu1097=)
c.3177T>A (p.Leu1059=)
c.2739T>A (p.Leu913=)
n.4007T>A
3g.46999930T>CCA433477128NBEAL2c.3831T>C (p.Leu1277=)
c.3729T>C (p.Leu1243=)
n.168T>C
c.1960-266T>C
c.303T>C (p.Leu101=)
c.3750T>C (p.Leu1250=)
c.3810T>C (p.Leu1270=)
c.3462T>C (p.Leu1154=)
c.3291T>C (p.Leu1097=)
c.3177T>C (p.Leu1059=)
c.2739T>C (p.Leu913=)
n.4007T>C
3g.46999930T>GCA433477129NBEAL2c.3831T>G (p.Leu1277=)
c.3729T>G (p.Leu1243=)
n.168T>G
c.1960-266T>G
c.303T>G (p.Leu101=)
c.3750T>G (p.Leu1250=)
c.3810T>G (p.Leu1270=)
c.3462T>G (p.Leu1154=)
c.3291T>G (p.Leu1097=)
c.3177T>G (p.Leu1059=)
c.2739T>G (p.Leu913=)
n.4007T>G
 dbSNP
3g.46999930T=CA1362362931NBEAL2c.3831T= (p.Leu1277=)
c.3729T= (p.Leu1243=)
n.168T=
c.1960-266T=
c.303T= (p.Leu101=)
c.3750T= (p.Leu1250=)
c.3810T= (p.Leu1270=)
c.3462T= (p.Leu1154=)
c.3291T= (p.Leu1097=)
c.3177T= (p.Leu1059=)
c.2739T= (p.Leu913=)
n.4007T=
3g.46999931C>ACA352515447NBEAL2c.3832C>A (p.Leu1278Met)
c.3730C>A (p.Leu1244Met)
n.169C>A
c.1960-265C>A
c.304C>A (p.Leu102Met)
c.3751C>A (p.Leu1251Met)
c.3811C>A (p.Leu1271Met)
c.3463C>A (p.Leu1155Met)
c.3292C>A (p.Leu1098Met)
c.3178C>A (p.Leu1060Met)
c.2740C>A (p.Leu914Met)
n.4008C>A
3g.46999931C>GCA352515448NBEAL2c.3832C>G (p.Leu1278Val)
c.3730C>G (p.Leu1244Val)
n.169C>G
c.1960-265C>G
c.304C>G (p.Leu102Val)
c.3751C>G (p.Leu1251Val)
c.3811C>G (p.Leu1271Val)
c.3463C>G (p.Leu1155Val)
c.3292C>G (p.Leu1098Val)
c.3178C>G (p.Leu1060Val)
c.2740C>G (p.Leu914Val)
n.4008C>G
3g.46999931C>TCA433477130NBEAL2c.3832C>T (p.Leu1278=)
c.3730C>T (p.Leu1244=)
n.169C>T
c.1960-265C>T
c.304C>T (p.Leu102=)
c.3751C>T (p.Leu1251=)
c.3811C>T (p.Leu1271=)
c.3463C>T (p.Leu1155=)
c.3292C>T (p.Leu1098=)
c.3178C>T (p.Leu1060=)
c.2740C>T (p.Leu914=)
n.4008C>T
 gnomAD v4
3g.46999932T>ACA352515449NBEAL2c.3833T>A (p.Leu1278Gln)
c.3731T>A (p.Leu1244Gln)
n.170T>A
c.1960-264T>A
c.305T>A (p.Leu102Gln)
c.3752T>A (p.Leu1251Gln)
c.3812T>A (p.Leu1271Gln)
c.3464T>A (p.Leu1155Gln)
c.3293T>A (p.Leu1098Gln)
c.3179T>A (p.Leu1060Gln)
c.2741T>A (p.Leu914Gln)
n.4009T>A
3g.46999932T>CCA352515450NBEAL2c.3833T>C (p.Leu1278Pro)
c.3731T>C (p.Leu1244Pro)
n.170T>C
c.1960-264T>C
c.305T>C (p.Leu102Pro)
c.3752T>C (p.Leu1251Pro)
c.3812T>C (p.Leu1271Pro)
c.3464T>C (p.Leu1155Pro)
c.3293T>C (p.Leu1098Pro)
c.3179T>C (p.Leu1060Pro)
c.2741T>C (p.Leu914Pro)
n.4009T>C
3g.46999932T>GCA352515451NBEAL2c.3833T>G (p.Leu1278Arg)
c.3731T>G (p.Leu1244Arg)
n.170T>G
c.1960-264T>G
c.305T>G (p.Leu102Arg)
c.3752T>G (p.Leu1251Arg)
c.3812T>G (p.Leu1271Arg)
c.3464T>G (p.Leu1155Arg)
c.3293T>G (p.Leu1098Arg)
c.3179T>G (p.Leu1060Arg)
c.2741T>G (p.Leu914Arg)
n.4009T>G
3g.46999933G>ACA433477131NBEAL2c.3834G>A (p.Leu1278=)
c.3732G>A (p.Leu1244=)
n.171G>A
c.1960-263G>A
c.306G>A (p.Leu102=)
c.3753G>A (p.Leu1251=)
c.3813G>A (p.Leu1271=)
c.3465G>A (p.Leu1155=)
c.3294G>A (p.Leu1098=)
c.3180G>A (p.Leu1060=)
c.2742G>A (p.Leu914=)
n.4010G>A
3g.46999933G>CCA433477132NBEAL2c.3834G>C (p.Leu1278=)
c.3732G>C (p.Leu1244=)
n.171G>C
c.1960-263G>C
c.306G>C (p.Leu102=)
c.3753G>C (p.Leu1251=)
c.3813G>C (p.Leu1271=)
c.3465G>C (p.Leu1155=)
c.3294G>C (p.Leu1098=)
c.3180G>C (p.Leu1060=)
c.2742G>C (p.Leu914=)
n.4010G>C
3g.46999933G>TCA433477133NBEAL2c.3834G>T (p.Leu1278=)
c.3732G>T (p.Leu1244=)
n.171G>T
c.1960-263G>T
c.306G>T (p.Leu102=)
c.3753G>T (p.Leu1251=)
c.3813G>T (p.Leu1271=)
c.3465G>T (p.Leu1155=)
c.3294G>T (p.Leu1098=)
c.3180G>T (p.Leu1060=)
c.2742G>T (p.Leu914=)
n.4010G>T
 gnomAD v4
3g.46999934G>ACA352515452NBEAL2c.3835G>A (p.Ala1279Thr)
c.3733G>A (p.Ala1245Thr)
n.172G>A
c.1960-262G>A
c.307G>A (p.Ala103Thr)
c.3754G>A (p.Ala1252Thr)
c.3814G>A (p.Ala1272Thr)
c.3466G>A (p.Ala1156Thr)
c.3295G>A (p.Ala1099Thr)
c.3181G>A (p.Ala1061Thr)
c.2743G>A (p.Ala915Thr)
n.4011G>A
3g.46999934G>CCA352515453NBEAL2c.3835G>C (p.Ala1279Pro)
c.3733G>C (p.Ala1245Pro)
n.172G>C
c.1960-262G>C
c.307G>C (p.Ala103Pro)
c.3754G>C (p.Ala1252Pro)
c.3814G>C (p.Ala1272Pro)
c.3466G>C (p.Ala1156Pro)
c.3295G>C (p.Ala1099Pro)
c.3181G>C (p.Ala1061Pro)
c.2743G>C (p.Ala915Pro)
n.4011G>C
3g.46999934G>TCA352515454NBEAL2c.3835G>T (p.Ala1279Ser)
c.3733G>T (p.Ala1245Ser)
n.172G>T
c.1960-262G>T
c.307G>T (p.Ala103Ser)
c.3754G>T (p.Ala1252Ser)
c.3814G>T (p.Ala1272Ser)
c.3466G>T (p.Ala1156Ser)
c.3295G>T (p.Ala1099Ser)
c.3181G>T (p.Ala1061Ser)
c.2743G>T (p.Ala915Ser)
n.4011G>T
 gnomAD v4
3g.46999935C>ACA352515456NBEAL2c.3836C>A (p.Ala1279Asp)
c.3734C>A (p.Ala1245Asp)
n.173C>A
c.1960-261C>A
c.308C>A (p.Ala103Asp)
c.3755C>A (p.Ala1252Asp)
c.3815C>A (p.Ala1272Asp)
c.3467C>A (p.Ala1156Asp)
c.3296C>A (p.Ala1099Asp)
c.3182C>A (p.Ala1061Asp)
c.2744C>A (p.Ala915Asp)
n.4012C>A
3g.46999935C=CA1362362932NBEAL2c.3836C= (p.Ala1279=)
c.3734C= (p.Ala1245=)
n.173C=
c.1960-261C=
c.308C= (p.Ala103=)
c.3755C= (p.Ala1252=)
c.3815C= (p.Ala1272=)
c.3467C= (p.Ala1156=)
c.3296C= (p.Ala1099=)
c.3182C= (p.Ala1061=)
c.2744C= (p.Ala915=)
n.4012C=
3g.46999935C>GCA352515455NBEAL2c.3836C>G (p.Ala1279Gly)
c.3734C>G (p.Ala1245Gly)
n.173C>G
c.1960-261C>G
c.308C>G (p.Ala103Gly)
c.3755C>G (p.Ala1252Gly)
c.3815C>G (p.Ala1272Gly)
c.3467C>G (p.Ala1156Gly)
c.3296C>G (p.Ala1099Gly)
c.3182C>G (p.Ala1061Gly)
c.2744C>G (p.Ala915Gly)
n.4012C>G
3g.46999935C>TCA73817487NBEAL2c.3836C>T (p.Ala1279Val)
c.3734C>T (p.Ala1245Val)
n.173C>T
c.1960-261C>T
c.308C>T (p.Ala103Val)
c.3755C>T (p.Ala1252Val)
c.3815C>T (p.Ala1272Val)
c.3467C>T (p.Ala1156Val)
c.3296C>T (p.Ala1099Val)
c.3182C>T (p.Ala1061Val)
c.2744C>T (p.Ala915Val)
n.4012C>T
 dbSNP gnomAD v2 gnomAD v4
3g.46999936C>ACA433477134NBEAL2c.3837C>A (p.Ala1279=)
c.3735C>A (p.Ala1245=)
n.174C>A
c.1960-260C>A
c.309C>A (p.Ala103=)
c.3756C>A (p.Ala1252=)
c.3816C>A (p.Ala1272=)
c.3468C>A (p.Ala1156=)
c.3297C>A (p.Ala1099=)
c.3183C>A (p.Ala1061=)
c.2745C>A (p.Ala915=)
n.4013C>A
3g.46999936C>GCA433477135NBEAL2c.3837C>G (p.Ala1279=)
c.3735C>G (p.Ala1245=)
n.174C>G
c.1960-260C>G
c.309C>G (p.Ala103=)
c.3756C>G (p.Ala1252=)
c.3816C>G (p.Ala1272=)
c.3468C>G (p.Ala1156=)
c.3297C>G (p.Ala1099=)
c.3183C>G (p.Ala1061=)
c.2745C>G (p.Ala915=)
n.4013C>G
3g.46999936C>TCA433477136NBEAL2c.3837C>T (p.Ala1279=)
c.3735C>T (p.Ala1245=)
n.174C>T
c.1960-260C>T
c.309C>T (p.Ala103=)
c.3756C>T (p.Ala1252=)
c.3816C>T (p.Ala1272=)
c.3468C>T (p.Ala1156=)
c.3297C>T (p.Ala1099=)
c.3183C>T (p.Ala1061=)
c.2745C>T (p.Ala915=)
n.4013C>T
3g.46999937C>ACA433477137NBEAL2c.3838C>A (p.Arg1280=)
c.3736C>A (p.Arg1246=)
n.175C>A
c.1960-259C>A
c.310C>A (p.Arg104=)
c.3757C>A (p.Arg1253=)
c.3817C>A (p.Arg1273=)
c.3469C>A (p.Arg1157=)
c.3298C>A (p.Arg1100=)
c.3184C>A (p.Arg1062=)
c.2746C>A (p.Arg916=)
n.4014C>A
3g.46999937C=CA1362362933NBEAL2c.3838C= (p.Arg1280=)
c.3736C= (p.Arg1246=)
n.175C=
c.1960-259C=
c.310C= (p.Arg104=)
c.3757C= (p.Arg1253=)
c.3817C= (p.Arg1273=)
c.3469C= (p.Arg1157=)
c.3298C= (p.Arg1100=)
c.3184C= (p.Arg1062=)
c.2746C= (p.Arg916=)
n.4014C=
3g.46999937C>GCA352515457NBEAL2c.3838C>G (p.Arg1280Gly)
c.3736C>G (p.Arg1246Gly)
n.175C>G
c.1960-259C>G
c.310C>G (p.Arg104Gly)
c.3757C>G (p.Arg1253Gly)
c.3817C>G (p.Arg1273Gly)
c.3469C>G (p.Arg1157Gly)
c.3298C>G (p.Arg1100Gly)
c.3184C>G (p.Arg1062Gly)
c.2746C>G (p.Arg916Gly)
n.4014C>G
 dbSNP gnomAD v2 gnomAD v4
3g.46999937C>TCA73817495NBEAL2c.3838C>T (p.Arg1280Ter)
c.3736C>T (p.Arg1246Ter)
n.175C>T
c.1960-259C>T
c.310C>T (p.Arg104Ter)
c.3757C>T (p.Arg1253Ter)
c.3817C>T (p.Arg1273Ter)
c.3469C>T (p.Arg1157Ter)
c.3298C>T (p.Arg1100Ter)
c.3184C>T (p.Arg1062Ter)
c.2746C>T (p.Arg916Ter)
n.4014C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.46999938G>ACA2361089NBEAL2c.3839G>A (p.Arg1280Gln)
c.3737G>A (p.Arg1246Gln)
n.176G>A
c.1960-258G>A
c.311G>A (p.Arg104Gln)
c.3758G>A (p.Arg1253Gln)
c.3818G>A (p.Arg1273Gln)
c.3470G>A (p.Arg1157Gln)
c.3299G>A (p.Arg1100Gln)
c.3185G>A (p.Arg1062Gln)
c.2747G>A (p.Arg916Gln)
n.4015G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.46999938G>CCA352515458NBEAL2c.3839G>C (p.Arg1280Pro)
c.3737G>C (p.Arg1246Pro)
n.176G>C
c.1960-258G>C
c.311G>C (p.Arg104Pro)
c.3758G>C (p.Arg1253Pro)
c.3818G>C (p.Arg1273Pro)
c.3470G>C (p.Arg1157Pro)
c.3299G>C (p.Arg1100Pro)
c.3185G>C (p.Arg1062Pro)
c.2747G>C (p.Arg916Pro)
n.4015G>C
3g.46999938G=CA1362362934NBEAL2c.3839G= (p.Arg1280=)
c.3737G= (p.Arg1246=)
n.176G=
c.1960-258G=
c.311G= (p.Arg104=)
c.3758G= (p.Arg1253=)
c.3818G= (p.Arg1273=)
c.3470G= (p.Arg1157=)
c.3299G= (p.Arg1100=)
c.3185G= (p.Arg1062=)
c.2747G= (p.Arg916=)
n.4015G=
3g.46999938G>TCA352515459NBEAL2c.3839G>T (p.Arg1280Leu)
c.3737G>T (p.Arg1246Leu)
n.176G>T
c.1960-258G>T
c.311G>T (p.Arg104Leu)
c.3758G>T (p.Arg1253Leu)
c.3818G>T (p.Arg1273Leu)
c.3470G>T (p.Arg1157Leu)
c.3299G>T (p.Arg1100Leu)
c.3185G>T (p.Arg1062Leu)
c.2747G>T (p.Arg916Leu)
n.4015G>T
 dbSNP gnomAD v2 gnomAD v4
3g.46999939A>CCA433477138NBEAL2c.3840A>C (p.Arg1280=)
c.3738A>C (p.Arg1246=)
n.177A>C
c.1960-257A>C
c.312A>C (p.Arg104=)
c.3759A>C (p.Arg1253=)
c.3819A>C (p.Arg1273=)
c.3471A>C (p.Arg1157=)
c.3300A>C (p.Arg1100=)
c.3186A>C (p.Arg1062=)
c.2748A>C (p.Arg916=)
n.4016A>C
3g.46999939A>GCA433477140NBEAL2c.3840A>G (p.Arg1280=)
c.3738A>G (p.Arg1246=)
n.177A>G
c.1960-257A>G
c.312A>G (p.Arg104=)
c.3759A>G (p.Arg1253=)
c.3819A>G (p.Arg1273=)
c.3471A>G (p.Arg1157=)
c.3300A>G (p.Arg1100=)
c.3186A>G (p.Arg1062=)
c.2748A>G (p.Arg916=)
n.4016A>G
3g.46999939A>TCA433477139NBEAL2c.3840A>T (p.Arg1280=)
c.3738A>T (p.Arg1246=)
n.177A>T
c.1960-257A>T
c.312A>T (p.Arg104=)
c.3759A>T (p.Arg1253=)
c.3819A>T (p.Arg1273=)
c.3471A>T (p.Arg1157=)
c.3300A>T (p.Arg1100=)
c.3186A>T (p.Arg1062=)
c.2748A>T (p.Arg916=)
n.4016A>T
3g.46999940C>ACA352516198NBEAL2c.3841C>A (p.Gln1281Lys)
c.3739C>A (p.Gln1247Lys)
n.178C>A
c.1960-256C>A
c.313C>A (p.Gln105Lys)
c.3760C>A (p.Gln1254Lys)
c.3820C>A (p.Gln1274Lys)
c.3472C>A (p.Gln1158Lys)
c.3301C>A (p.Gln1101Lys)
c.3187C>A (p.Gln1063Lys)
c.2749C>A (p.Gln917Lys)
n.4017C>A
3g.46999940C>GCA352516199NBEAL2c.3841C>G (p.Gln1281Glu)
c.3739C>G (p.Gln1247Glu)
n.178C>G
c.1960-256C>G
c.313C>G (p.Gln105Glu)
c.3760C>G (p.Gln1254Glu)
c.3820C>G (p.Gln1274Glu)
c.3472C>G (p.Gln1158Glu)
c.3301C>G (p.Gln1101Glu)
c.3187C>G (p.Gln1063Glu)
c.2749C>G (p.Gln917Glu)
n.4017C>G
 gnomAD v4
3g.46999940C>TCA352516200NBEAL2c.3841C>T (p.Gln1281Ter)
c.3739C>T (p.Gln1247Ter)
n.178C>T
c.1960-256C>T
c.313C>T (p.Gln105Ter)
c.3760C>T (p.Gln1254Ter)
c.3820C>T (p.Gln1274Ter)
c.3472C>T (p.Gln1158Ter)
c.3301C>T (p.Gln1101Ter)
c.3187C>T (p.Gln1063Ter)
c.2749C>T (p.Gln917Ter)
n.4017C>T
3g.46999941A>CCA352516203NBEAL2c.3842A>C (p.Gln1281Pro)
c.3740A>C (p.Gln1247Pro)
n.179A>C
c.1960-255A>C
c.314A>C (p.Gln105Pro)
c.3761A>C (p.Gln1254Pro)
c.3821A>C (p.Gln1274Pro)
c.3473A>C (p.Gln1158Pro)
c.3302A>C (p.Gln1101Pro)
c.3188A>C (p.Gln1063Pro)
c.2750A>C (p.Gln917Pro)
n.4018A>C
3g.46999941A>GCA352516201NBEAL2c.3842A>G (p.Gln1281Arg)
c.3740A>G (p.Gln1247Arg)
n.179A>G
c.1960-255A>G
c.314A>G (p.Gln105Arg)
c.3761A>G (p.Gln1254Arg)
c.3821A>G (p.Gln1274Arg)
c.3473A>G (p.Gln1158Arg)
c.3302A>G (p.Gln1101Arg)
c.3188A>G (p.Gln1063Arg)
c.2750A>G (p.Gln917Arg)
n.4018A>G
3g.46999941A>TCA352516202NBEAL2c.3842A>T (p.Gln1281Leu)
c.3740A>T (p.Gln1247Leu)
n.179A>T
c.1960-255A>T
c.314A>T (p.Gln105Leu)
c.3761A>T (p.Gln1254Leu)
c.3821A>T (p.Gln1274Leu)
c.3473A>T (p.Gln1158Leu)
c.3302A>T (p.Gln1101Leu)
c.3188A>T (p.Gln1063Leu)
c.2750A>T (p.Gln917Leu)
n.4018A>T
3g.46999942G>ACA73817510NBEAL2c.3843G>A (p.Gln1281=)
c.3741G>A (p.Gln1247=)
n.180G>A
c.1960-254G>A
c.315G>A (p.Gln105=)
c.3762G>A (p.Gln1254=)
c.3822G>A (p.Gln1274=)
c.3474G>A (p.Gln1158=)
c.3303G>A (p.Gln1101=)
c.3189G>A (p.Gln1063=)
c.2751G>A (p.Gln917=)
n.4019G>A
 dbSNP gnomAD v4
3g.46999942G>CCA352516204NBEAL2c.3843G>C (p.Gln1281His)
c.3741G>C (p.Gln1247His)
n.180G>C
c.1960-254G>C
c.315G>C (p.Gln105His)
c.3762G>C (p.Gln1254His)
c.3822G>C (p.Gln1274His)
c.3474G>C (p.Gln1158His)
c.3303G>C (p.Gln1101His)
c.3189G>C (p.Gln1063His)
c.2751G>C (p.Gln917His)
n.4019G>C
 gnomAD v4
3g.46999942G=CA1362362935NBEAL2c.3843G= (p.Gln1281=)
c.3741G= (p.Gln1247=)
n.180G=
c.1960-254G=
c.315G= (p.Gln105=)
c.3762G= (p.Gln1254=)
c.3822G= (p.Gln1274=)
c.3474G= (p.Gln1158=)
c.3303G= (p.Gln1101=)
c.3189G= (p.Gln1063=)
c.2751G= (p.Gln917=)
n.4019G=
3g.46999942G>TCA352516205NBEAL2c.3843G>T (p.Gln1281His)
c.3741G>T (p.Gln1247His)
n.180G>T
c.1960-254G>T
c.315G>T (p.Gln105His)
c.3762G>T (p.Gln1254His)
c.3822G>T (p.Gln1274His)
c.3474G>T (p.Gln1158His)
c.3303G>T (p.Gln1101His)
c.3189G>T (p.Gln1063His)
c.2751G>T (p.Gln917His)
n.4019G>T
3g.46999943G>ACA352516206NBEAL2c.3844G>A (p.Ala1282Thr)
c.3742G>A (p.Ala1248Thr)
n.181G>A
c.1960-253G>A
c.316G>A (p.Ala106Thr)
c.3763G>A (p.Ala1255Thr)
c.3823G>A (p.Ala1275Thr)
c.3475G>A (p.Ala1159Thr)
c.3304G>A (p.Ala1102Thr)
c.3190G>A (p.Ala1064Thr)
c.2752G>A (p.Ala918Thr)
n.4020G>A
3g.46999943G>CCA352516207NBEAL2c.3844G>C (p.Ala1282Pro)
c.3742G>C (p.Ala1248Pro)
n.181G>C
c.1960-253G>C
c.316G>C (p.Ala106Pro)
c.3763G>C (p.Ala1255Pro)
c.3823G>C (p.Ala1275Pro)
c.3475G>C (p.Ala1159Pro)
c.3304G>C (p.Ala1102Pro)
c.3190G>C (p.Ala1064Pro)
c.2752G>C (p.Ala918Pro)
n.4020G>C
 dbSNP gnomAD v4
3g.46999943G=CA1362362936NBEAL2c.3844G= (p.Ala1282=)
c.3742G= (p.Ala1248=)
n.181G=
c.1960-253G=
c.316G= (p.Ala106=)
c.3763G= (p.Ala1255=)
c.3823G= (p.Ala1275=)
c.3475G= (p.Ala1159=)
c.3304G= (p.Ala1102=)
c.3190G= (p.Ala1064=)
c.2752G= (p.Ala918=)
n.4020G=
3g.46999943G>TCA352516208NBEAL2c.3844G>T (p.Ala1282Ser)
c.3742G>T (p.Ala1248Ser)
n.181G>T
c.1960-253G>T
c.316G>T (p.Ala106Ser)
c.3763G>T (p.Ala1255Ser)
c.3823G>T (p.Ala1275Ser)
c.3475G>T (p.Ala1159Ser)
c.3304G>T (p.Ala1102Ser)
c.3190G>T (p.Ala1064Ser)
c.2752G>T (p.Ala918Ser)
n.4020G>T
3g.46999944C>ACA352516209NBEAL2c.3845C>A (p.Ala1282Asp)
c.3743C>A (p.Ala1248Asp)
n.182C>A
c.1960-252C>A
c.317C>A (p.Ala106Asp)
c.3764C>A (p.Ala1255Asp)
c.3824C>A (p.Ala1275Asp)
c.3476C>A (p.Ala1159Asp)
c.3305C>A (p.Ala1102Asp)
c.3191C>A (p.Ala1064Asp)
c.2753C>A (p.Ala918Asp)
n.4021C>A
3g.46999944C>GCA352516211NBEAL2c.3845C>G (p.Ala1282Gly)
c.3743C>G (p.Ala1248Gly)
n.182C>G
c.1960-252C>G
c.317C>G (p.Ala106Gly)
c.3764C>G (p.Ala1255Gly)
c.3824C>G (p.Ala1275Gly)
c.3476C>G (p.Ala1159Gly)
c.3305C>G (p.Ala1102Gly)
c.3191C>G (p.Ala1064Gly)
c.2753C>G (p.Ala918Gly)
n.4021C>G
3g.46999944C>TCA352516210NBEAL2c.3845C>T (p.Ala1282Val)
c.3743C>T (p.Ala1248Val)
n.182C>T
c.1960-252C>T
c.317C>T (p.Ala106Val)
c.3764C>T (p.Ala1255Val)
c.3824C>T (p.Ala1275Val)
c.3476C>T (p.Ala1159Val)
c.3305C>T (p.Ala1102Val)
c.3191C>T (p.Ala1064Val)
c.2753C>T (p.Ala918Val)
n.4021C>T
3g.46999945T>ACA433598069NBEAL2c.3846T>A (p.Ala1282=)
c.3744T>A (p.Ala1248=)
n.183T>A
c.1960-251T>A
c.318T>A (p.Ala106=)
c.3765T>A (p.Ala1255=)
c.3825T>A (p.Ala1275=)
c.3477T>A (p.Ala1159=)
c.3306T>A (p.Ala1102=)
c.3192T>A (p.Ala1064=)
c.2754T>A (p.Ala918=)
n.4022T>A
3g.46999945T>CCA433598071NBEAL2c.3846T>C (p.Ala1282=)
c.3744T>C (p.Ala1248=)
n.183T>C
c.1960-251T>C
c.318T>C (p.Ala106=)
c.3765T>C (p.Ala1255=)
c.3825T>C (p.Ala1275=)
c.3477T>C (p.Ala1159=)
c.3306T>C (p.Ala1102=)
c.3192T>C (p.Ala1064=)
c.2754T>C (p.Ala918=)
n.4022T>C
 gnomAD v4
3g.46999945T>GCA433598070NBEAL2c.3846T>G (p.Ala1282=)
c.3744T>G (p.Ala1248=)
n.183T>G
c.1960-251T>G
c.318T>G (p.Ala106=)
c.3765T>G (p.Ala1255=)
c.3825T>G (p.Ala1275=)
c.3477T>G (p.Ala1159=)
c.3306T>G (p.Ala1102=)
c.3192T>G (p.Ala1064=)
c.2754T>G (p.Ala918=)
n.4022T>G
3g.46999946G>ACA352516212NBEAL2c.3847G>A (p.Gly1283Ser)
c.3745G>A (p.Gly1249Ser)
n.184G>A
c.1960-250G>A
c.319G>A (p.Gly107Ser)
c.3766G>A (p.Gly1256Ser)
c.3826G>A (p.Gly1276Ser)
c.3478G>A (p.Gly1160Ser)
c.3307G>A (p.Gly1103Ser)
c.3193G>A (p.Gly1065Ser)
c.2755G>A (p.Gly919Ser)
n.4023G>A
 dbSNP gnomAD v2 gnomAD v4
3g.46999946G>CCA352516213NBEAL2c.3847G>C (p.Gly1283Arg)
c.3745G>C (p.Gly1249Arg)
n.184G>C
c.1960-250G>C
c.319G>C (p.Gly107Arg)
c.3766G>C (p.Gly1256Arg)
c.3826G>C (p.Gly1276Arg)
c.3478G>C (p.Gly1160Arg)
c.3307G>C (p.Gly1103Arg)
c.3193G>C (p.Gly1065Arg)
c.2755G>C (p.Gly919Arg)
n.4023G>C
3g.46999946G=CA1362362937NBEAL2c.3847G= (p.Gly1283=)
c.3745G= (p.Gly1249=)
n.184G=
c.1960-250G=
c.319G= (p.Gly107=)
c.3766G= (p.Gly1256=)
c.3826G= (p.Gly1276=)
c.3478G= (p.Gly1160=)
c.3307G= (p.Gly1103=)
c.3193G= (p.Gly1065=)
c.2755G= (p.Gly919=)
n.4023G=
3g.46999946G>TCA352516214NBEAL2c.3847G>T (p.Gly1283Cys)
c.3745G>T (p.Gly1249Cys)
n.184G>T
c.1960-250G>T
c.319G>T (p.Gly107Cys)
c.3766G>T (p.Gly1256Cys)
c.3826G>T (p.Gly1276Cys)
c.3478G>T (p.Gly1160Cys)
c.3307G>T (p.Gly1103Cys)
c.3193G>T (p.Gly1065Cys)
c.2755G>T (p.Gly919Cys)
n.4023G>T
3g.46999947G>ACA352516215NBEAL2c.3848G>A (p.Gly1283Asp)
c.3746G>A (p.Gly1249Asp)
n.185G>A
c.1960-249G>A
c.320G>A (p.Gly107Asp)
c.3767G>A (p.Gly1256Asp)
c.3827G>A (p.Gly1276Asp)
c.3479G>A (p.Gly1160Asp)
c.3308G>A (p.Gly1103Asp)
c.3194G>A (p.Gly1065Asp)
c.2756G>A (p.Gly919Asp)
n.4024G>A
 gnomAD v4
3g.46999947G>CCA352516216NBEAL2c.3848G>C (p.Gly1283Ala)
c.3746G>C (p.Gly1249Ala)
n.185G>C
c.1960-249G>C
c.320G>C (p.Gly107Ala)
c.3767G>C (p.Gly1256Ala)
c.3827G>C (p.Gly1276Ala)
c.3479G>C (p.Gly1160Ala)
c.3308G>C (p.Gly1103Ala)
c.3194G>C (p.Gly1065Ala)
c.2756G>C (p.Gly919Ala)
n.4024G>C
3g.46999947G=CA1362362938NBEAL2c.3848G= (p.Gly1283=)
c.3746G= (p.Gly1249=)
n.185G=
c.1960-249G=
c.320G= (p.Gly107=)
c.3767G= (p.Gly1256=)
c.3827G= (p.Gly1276=)
c.3479G= (p.Gly1160=)
c.3308G= (p.Gly1103=)
c.3194G= (p.Gly1065=)
c.2756G= (p.Gly919=)
n.4024G=
3g.46999947G>TCA2361090NBEAL2c.3848G>T (p.Gly1283Val)
c.3746G>T (p.Gly1249Val)
n.185G>T
c.1960-249G>T
c.320G>T (p.Gly107Val)
c.3767G>T (p.Gly1256Val)
c.3827G>T (p.Gly1276Val)
c.3479G>T (p.Gly1160Val)
c.3308G>T (p.Gly1103Val)
c.3194G>T (p.Gly1065Val)
c.2756G>T (p.Gly919Val)
n.4024G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.46999948C>ACA433598078NBEAL2c.3849C>A (p.Gly1283=)
c.3747C>A (p.Gly1249=)
n.186C>A
c.1960-248C>A
c.321C>A (p.Gly107=)
c.3768C>A (p.Gly1256=)
c.3828C>A (p.Gly1276=)
c.3480C>A (p.Gly1160=)
c.3309C>A (p.Gly1103=)
c.3195C>A (p.Gly1065=)
c.2757C>A (p.Gly919=)
n.4025C>A
3g.46999948C>GCA433598083NBEAL2c.3849C>G (p.Gly1283=)
c.3747C>G (p.Gly1249=)
n.186C>G
c.1960-248C>G
c.321C>G (p.Gly107=)
c.3768C>G (p.Gly1256=)
c.3828C>G (p.Gly1276=)
c.3480C>G (p.Gly1160=)
c.3309C>G (p.Gly1103=)
c.3195C>G (p.Gly1065=)
c.2757C>G (p.Gly919=)
n.4025C>G
3g.46999948C>TCA433598085NBEAL2c.3849C>T (p.Gly1283=)
c.3747C>T (p.Gly1249=)
n.186C>T
c.1960-248C>T
c.321C>T (p.Gly107=)
c.3768C>T (p.Gly1256=)
c.3828C>T (p.Gly1276=)
c.3480C>T (p.Gly1160=)
c.3309C>T (p.Gly1103=)
c.3195C>T (p.Gly1065=)
c.2757C>T (p.Gly919=)
n.4025C>T
 gnomAD v4
3g.46999949T>ACA352516217NBEAL2c.3850T>A (p.Trp1284Arg)
c.3748T>A (p.Trp1250Arg)
n.187T>A
c.1960-247T>A
c.322T>A (p.Trp108Arg)
c.3769T>A (p.Trp1257Arg)
c.3829T>A (p.Trp1277Arg)
c.3481T>A (p.Trp1161Arg)
c.3310T>A (p.Trp1104Arg)
c.3196T>A (p.Trp1066Arg)
c.2758T>A (p.Trp920Arg)
n.4026T>A
 gnomAD v4
3g.46999949T>CCA352516218NBEAL2c.3850T>C (p.Trp1284Arg)
c.3748T>C (p.Trp1250Arg)
n.187T>C
c.1960-247T>C
c.322T>C (p.Trp108Arg)
c.3769T>C (p.Trp1257Arg)
c.3829T>C (p.Trp1277Arg)
c.3481T>C (p.Trp1161Arg)
c.3310T>C (p.Trp1104Arg)
c.3196T>C (p.Trp1066Arg)
c.2758T>C (p.Trp920Arg)
n.4026T>C
3g.46999949T>GCA352516219NBEAL2c.3850T>G (p.Trp1284Gly)
c.3748T>G (p.Trp1250Gly)
n.187T>G
c.1960-247T>G
c.322T>G (p.Trp108Gly)
c.3769T>G (p.Trp1257Gly)
c.3829T>G (p.Trp1277Gly)
c.3481T>G (p.Trp1161Gly)
c.3310T>G (p.Trp1104Gly)
c.3196T>G (p.Trp1066Gly)
c.2758T>G (p.Trp920Gly)
n.4026T>G
 gnomAD v4
3g.46999950G>ACA352516220NBEAL2c.3851G>A (p.Trp1284Ter)
c.3749G>A (p.Trp1250Ter)
n.188G>A
c.1960-246G>A
c.323G>A (p.Trp108Ter)
c.3770G>A (p.Trp1257Ter)
c.3830G>A (p.Trp1277Ter)
c.3482G>A (p.Trp1161Ter)
c.3311G>A (p.Trp1104Ter)
c.3197G>A (p.Trp1066Ter)
c.2759G>A (p.Trp920Ter)
n.4027G>A
3g.46999950G>CCA352516221NBEAL2c.3851G>C (p.Trp1284Ser)
c.3749G>C (p.Trp1250Ser)
n.188G>C
c.1960-246G>C
c.323G>C (p.Trp108Ser)
c.3770G>C (p.Trp1257Ser)
c.3830G>C (p.Trp1277Ser)
c.3482G>C (p.Trp1161Ser)
c.3311G>C (p.Trp1104Ser)
c.3197G>C (p.Trp1066Ser)
c.2759G>C (p.Trp920Ser)
n.4027G>C
3g.46999950G>TCA352516222NBEAL2c.3851G>T (p.Trp1284Leu)
c.3749G>T (p.Trp1250Leu)
n.188G>T
c.1960-246G>T
c.323G>T (p.Trp108Leu)
c.3770G>T (p.Trp1257Leu)
c.3830G>T (p.Trp1277Leu)
c.3482G>T (p.Trp1161Leu)
c.3311G>T (p.Trp1104Leu)
c.3197G>T (p.Trp1066Leu)
c.2759G>T (p.Trp920Leu)
n.4027G>T
3g.46999950_46999953dupCA2665493215NBEAL2c.3851_3854dup (p.Asp1286AlafsTer?)
c.3749_3752dup (p.Asp1252AlafsTer?)
n.188_191dup
c.1960-246_1960-243dup
c.323_326dup (p.Asp110AlafsTer?)
c.3770_3773dup (p.Asp1259AlafsTer?)
c.3830_3833dup (p.Asp1279AlafsTer?)
c.3482_3485dup (p.Asp1163AlafsTer?)
c.3311_3314dup (p.Asp1106AlafsTer?)
c.3197_3200dup (p.Asp1068AlafsTer?)
c.2759_2762dup (p.Asp922AlafsTer?)
n.4027_4030dup
 gnomAD v4
3g.46999951G>ACA352516223NBEAL2c.3852G>A (p.Trp1284Ter)
c.3750G>A (p.Trp1250Ter)
n.189G>A
c.1960-245G>A
c.324G>A (p.Trp108Ter)
c.3771G>A (p.Trp1257Ter)
c.3831G>A (p.Trp1277Ter)
c.3483G>A (p.Trp1161Ter)
c.3312G>A (p.Trp1104Ter)
c.3198G>A (p.Trp1066Ter)
c.2760G>A (p.Trp920Ter)
n.4028G>A
 gnomAD v4
3g.46999951G>CCA352516225NBEAL2c.3852G>C (p.Trp1284Cys)
c.3750G>C (p.Trp1250Cys)
n.189G>C
c.1960-245G>C
c.324G>C (p.Trp108Cys)
c.3771G>C (p.Trp1257Cys)
c.3831G>C (p.Trp1277Cys)
c.3483G>C (p.Trp1161Cys)
c.3312G>C (p.Trp1104Cys)
c.3198G>C (p.Trp1066Cys)
c.2760G>C (p.Trp920Cys)
n.4028G>C
3g.46999951G>TCA352516224NBEAL2c.3852G>T (p.Trp1284Cys)
c.3750G>T (p.Trp1250Cys)
n.189G>T
c.1960-245G>T
c.324G>T (p.Trp108Cys)
c.3771G>T (p.Trp1257Cys)
c.3831G>T (p.Trp1277Cys)
c.3483G>T (p.Trp1161Cys)
c.3312G>T (p.Trp1104Cys)
c.3198G>T (p.Trp1066Cys)
c.2760G>T (p.Trp920Cys)
n.4028G>T
 gnomAD v4
3g.46999952C>ACA352516226NBEAL2c.3853C>A (p.Gln1285Lys)
c.3751C>A (p.Gln1251Lys)
n.190C>A
c.1960-244C>A
c.325C>A (p.Gln109Lys)
c.3772C>A (p.Gln1258Lys)
c.3832C>A (p.Gln1278Lys)
c.3484C>A (p.Gln1162Lys)
c.3313C>A (p.Gln1105Lys)
c.3199C>A (p.Gln1067Lys)
c.2761C>A (p.Gln921Lys)
n.4029C>A
3g.46999952C>GCA352516227NBEAL2c.3853C>G (p.Gln1285Glu)
c.3751C>G (p.Gln1251Glu)
n.190C>G
c.1960-244C>G
c.325C>G (p.Gln109Glu)
c.3772C>G (p.Gln1258Glu)
c.3832C>G (p.Gln1278Glu)
c.3484C>G (p.Gln1162Glu)
c.3313C>G (p.Gln1105Glu)
c.3199C>G (p.Gln1067Glu)
c.2761C>G (p.Gln921Glu)
n.4029C>G
3g.46999952C>TCA352516228NBEAL2c.3853C>T (p.Gln1285Ter)
c.3751C>T (p.Gln1251Ter)
n.190C>T
c.1960-244C>T
c.325C>T (p.Gln109Ter)
c.3772C>T (p.Gln1258Ter)
c.3832C>T (p.Gln1278Ter)
c.3484C>T (p.Gln1162Ter)
c.3313C>T (p.Gln1105Ter)
c.3199C>T (p.Gln1067Ter)
c.2761C>T (p.Gln921Ter)
n.4029C>T
3g.46999953A>CCA352516229NBEAL2c.3854A>C (p.Gln1285Pro)
c.3752A>C (p.Gln1251Pro)
n.191A>C
c.1960-243A>C
c.326A>C (p.Gln109Pro)
c.3773A>C (p.Gln1258Pro)
c.3833A>C (p.Gln1278Pro)
c.3485A>C (p.Gln1162Pro)
c.3314A>C (p.Gln1105Pro)
c.3200A>C (p.Gln1067Pro)
c.2762A>C (p.Gln921Pro)
n.4030A>C
3g.46999953A>GCA352516230NBEAL2c.3854A>G (p.Gln1285Arg)
c.3752A>G (p.Gln1251Arg)
n.191A>G
c.1960-243A>G
c.326A>G (p.Gln109Arg)
c.3773A>G (p.Gln1258Arg)
c.3833A>G (p.Gln1278Arg)
c.3485A>G (p.Gln1162Arg)
c.3314A>G (p.Gln1105Arg)
c.3200A>G (p.Gln1067Arg)
c.2762A>G (p.Gln921Arg)
n.4030A>G
3g.46999953A>TCA352516231NBEAL2c.3854A>T (p.Gln1285Leu)
c.3752A>T (p.Gln1251Leu)
n.191A>T
c.1960-243A>T
c.326A>T (p.Gln109Leu)
c.3773A>T (p.Gln1258Leu)
c.3833A>T (p.Gln1278Leu)
c.3485A>T (p.Gln1162Leu)
c.3314A>T (p.Gln1105Leu)
c.3200A>T (p.Gln1067Leu)
c.2762A>T (p.Gln921Leu)
n.4030A>T
3g.46999954A>CCA352516232NBEAL2c.3855A>C (p.Gln1285His)
c.3753A>C (p.Gln1251His)
n.192A>C
c.1960-242A>C
c.327A>C (p.Gln109His)
c.3774A>C (p.Gln1258His)
c.3834A>C (p.Gln1278His)
c.3486A>C (p.Gln1162His)
c.3315A>C (p.Gln1105His)
c.3201A>C (p.Gln1067His)
c.2763A>C (p.Gln921His)
n.4031A>C
3g.46999954A>GCA433598097NBEAL2c.3855A>G (p.Gln1285=)
c.3753A>G (p.Gln1251=)
n.192A>G
c.1960-242A>G
c.327A>G (p.Gln109=)
c.3774A>G (p.Gln1258=)
c.3834A>G (p.Gln1278=)
c.3486A>G (p.Gln1162=)
c.3315A>G (p.Gln1105=)
c.3201A>G (p.Gln1067=)
c.2763A>G (p.Gln921=)
n.4031A>G
 gnomAD v4
3g.46999954A>TCA352516233NBEAL2c.3855A>T (p.Gln1285His)
c.3753A>T (p.Gln1251His)
n.192A>T
c.1960-242A>T
c.327A>T (p.Gln109His)
c.3774A>T (p.Gln1258His)
c.3834A>T (p.Gln1278His)
c.3486A>T (p.Gln1162His)
c.3315A>T (p.Gln1105His)
c.3201A>T (p.Gln1067His)
c.2763A>T (p.Gln921His)
n.4031A>T
3g.46999955G>ACA352516234NBEAL2c.3856G>A (p.Asp1286Asn)
c.3754G>A (p.Asp1252Asn)
n.193G>A
c.1960-241G>A
c.328G>A (p.Asp110Asn)
c.3775G>A (p.Asp1259Asn)
c.3835G>A (p.Asp1279Asn)
c.3487G>A (p.Asp1163Asn)
c.3316G>A (p.Asp1106Asn)
c.3202G>A (p.Asp1068Asn)
c.2764G>A (p.Asp922Asn)
n.4032G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.46999955G>CCA352516235NBEAL2c.3856G>C (p.Asp1286His)
c.3754G>C (p.Asp1252His)
n.193G>C
c.1960-241G>C
c.328G>C (p.Asp110His)
c.3775G>C (p.Asp1259His)
c.3835G>C (p.Asp1279His)
c.3487G>C (p.Asp1163His)
c.3316G>C (p.Asp1106His)
c.3202G>C (p.Asp1068His)
c.2764G>C (p.Asp922His)
n.4032G>C
3g.46999955G=CA1362362939NBEAL2c.3856G= (p.Asp1286=)
c.3754G= (p.Asp1252=)
n.193G=
c.1960-241G=
c.328G= (p.Asp110=)
c.3775G= (p.Asp1259=)
c.3835G= (p.Asp1279=)
c.3487G= (p.Asp1163=)
c.3316G= (p.Asp1106=)
c.3202G= (p.Asp1068=)
c.2764G= (p.Asp922=)
n.4032G=
3g.46999955G>TCA352516236NBEAL2c.3856G>T (p.Asp1286Tyr)
c.3754G>T (p.Asp1252Tyr)
n.193G>T
c.1960-241G>T
c.328G>T (p.Asp110Tyr)
c.3775G>T (p.Asp1259Tyr)
c.3835G>T (p.Asp1279Tyr)
c.3487G>T (p.Asp1163Tyr)
c.3316G>T (p.Asp1106Tyr)
c.3202G>T (p.Asp1068Tyr)
c.2764G>T (p.Asp922Tyr)
n.4032G>T
 gnomAD v4
3g.46999956A=CA1362362940NBEAL2c.3857A= (p.Asp1286=)
c.3755A= (p.Asp1252=)
n.194A=
c.1960-240A=
c.329A= (p.Asp110=)
c.3776A= (p.Asp1259=)
c.3836A= (p.Asp1279=)
c.3488A= (p.Asp1163=)
c.3317A= (p.Asp1106=)
c.3203A= (p.Asp1068=)
c.2765A= (p.Asp922=)
n.4033A=
3g.46999956A>CCA352516237NBEAL2c.3857A>C (p.Asp1286Ala)
c.3755A>C (p.Asp1252Ala)
n.194A>C
c.1960-240A>C
c.329A>C (p.Asp110Ala)
c.3776A>C (p.Asp1259Ala)
c.3836A>C (p.Asp1279Ala)
c.3488A>C (p.Asp1163Ala)
c.3317A>C (p.Asp1106Ala)
c.3203A>C (p.Asp1068Ala)
c.2765A>C (p.Asp922Ala)
n.4033A>C
3g.46999956A>GCA352516238NBEAL2c.3857A>G (p.Asp1286Gly)
c.3755A>G (p.Asp1252Gly)
n.194A>G
c.1960-240A>G
c.329A>G (p.Asp110Gly)
c.3776A>G (p.Asp1259Gly)
c.3836A>G (p.Asp1279Gly)
c.3488A>G (p.Asp1163Gly)
c.3317A>G (p.Asp1106Gly)
c.3203A>G (p.Asp1068Gly)
c.2765A>G (p.Asp922Gly)
n.4033A>G
3g.46999956A>TCA352516239NBEAL2c.3857A>T (p.Asp1286Val)
c.3755A>T (p.Asp1252Val)
n.194A>T
c.1960-240A>T
c.329A>T (p.Asp110Val)
c.3776A>T (p.Asp1259Val)
c.3836A>T (p.Asp1279Val)
c.3488A>T (p.Asp1163Val)
c.3317A>T (p.Asp1106Val)
c.3203A>T (p.Asp1068Val)
c.2765A>T (p.Asp922Val)
n.4033A>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.46999957T>ACA352516240NBEAL2c.3858T>A (p.Asp1286Glu)
c.3756T>A (p.Asp1252Glu)
n.195T>A
c.1960-239T>A
c.330T>A (p.Asp110Glu)
c.3777T>A (p.Asp1259Glu)
c.3837T>A (p.Asp1279Glu)
c.3489T>A (p.Asp1163Glu)
c.3318T>A (p.Asp1106Glu)
c.3204T>A (p.Asp1068Glu)
c.2766T>A (p.Asp922Glu)
n.4034T>A
3g.46999957T>CCA433598105NBEAL2c.3858T>C (p.Asp1286=)
c.3756T>C (p.Asp1252=)
n.195T>C
c.1960-239T>C
c.330T>C (p.Asp110=)
c.3777T>C (p.Asp1259=)
c.3837T>C (p.Asp1279=)
c.3489T>C (p.Asp1163=)
c.3318T>C (p.Asp1106=)
c.3204T>C (p.Asp1068=)
c.2766T>C (p.Asp922=)
n.4034T>C
 dbSNP gnomAD v2 gnomAD v4
3g.46999957T>GCA352516241NBEAL2c.3858T>G (p.Asp1286Glu)
c.3756T>G (p.Asp1252Glu)
n.195T>G
c.1960-239T>G
c.330T>G (p.Asp110Glu)
c.3777T>G (p.Asp1259Glu)
c.3837T>G (p.Asp1279Glu)
c.3489T>G (p.Asp1163Glu)
c.3318T>G (p.Asp1106Glu)
c.3204T>G (p.Asp1068Glu)
c.2766T>G (p.Asp922Glu)
n.4034T>G
3g.46999957T=CA1362362941NBEAL2c.3858T= (p.Asp1286=)
c.3756T= (p.Asp1252=)
n.195T=
c.1960-239T=
c.330T= (p.Asp110=)
c.3777T= (p.Asp1259=)
c.3837T= (p.Asp1279=)
c.3489T= (p.Asp1163=)
c.3318T= (p.Asp1106=)
c.3204T= (p.Asp1068=)
c.2766T= (p.Asp922=)
n.4034T=
3g.46999958G>ACA2361091NBEAL2c.3859G>A (p.Val1287Met)
c.3757G>A (p.Val1253Met)
n.196G>A
c.1960-238G>A
c.331G>A (p.Val111Met)
c.3778G>A (p.Val1260Met)
c.3838G>A (p.Val1280Met)
c.3490G>A (p.Val1164Met)
c.3319G>A (p.Val1107Met)
c.3205G>A (p.Val1069Met)
c.2767G>A (p.Val923Met)
n.4035G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.46999958G>CCA352516242NBEAL2c.3859G>C (p.Val1287Leu)
c.3757G>C (p.Val1253Leu)
n.196G>C
c.1960-238G>C
c.331G>C (p.Val111Leu)
c.3778G>C (p.Val1260Leu)
c.3838G>C (p.Val1280Leu)
c.3490G>C (p.Val1164Leu)
c.3319G>C (p.Val1107Leu)
c.3205G>C (p.Val1069Leu)
c.2767G>C (p.Val923Leu)
n.4035G>C
3g.46999958G=CA1362362942NBEAL2c.3859G= (p.Val1287=)
c.3757G= (p.Val1253=)
n.196G=
c.1960-238G=
c.331G= (p.Val111=)
c.3778G= (p.Val1260=)
c.3838G= (p.Val1280=)
c.3490G= (p.Val1164=)
c.3319G= (p.Val1107=)
c.3205G= (p.Val1069=)
c.2767G= (p.Val923=)
n.4035G=
3g.46999958G>TCA352516243NBEAL2c.3859G>T (p.Val1287Leu)
c.3757G>T (p.Val1253Leu)
n.196G>T
c.1960-238G>T
c.331G>T (p.Val111Leu)
c.3778G>T (p.Val1260Leu)
c.3838G>T (p.Val1280Leu)
c.3490G>T (p.Val1164Leu)
c.3319G>T (p.Val1107Leu)
c.3205G>T (p.Val1069Leu)
c.2767G>T (p.Val923Leu)
n.4035G>T
3g.46999959T>ACA352516244NBEAL2c.3860T>A (p.Val1287Glu)
c.3758T>A (p.Val1253Glu)
n.197T>A
c.1960-237T>A
c.332T>A (p.Val111Glu)
c.3779T>A (p.Val1260Glu)
c.3839T>A (p.Val1280Glu)
c.3491T>A (p.Val1164Glu)
c.3320T>A (p.Val1107Glu)
c.3206T>A (p.Val1069Glu)
c.2768T>A (p.Val923Glu)
n.4036T>A
 gnomAD v4
3g.46999959T>CCA352516245NBEAL2c.3860T>C (p.Val1287Ala)
c.3758T>C (p.Val1253Ala)
n.197T>C
c.1960-237T>C
c.332T>C (p.Val111Ala)
c.3779T>C (p.Val1260Ala)
c.3839T>C (p.Val1280Ala)
c.3491T>C (p.Val1164Ala)
c.3320T>C (p.Val1107Ala)
c.3206T>C (p.Val1069Ala)
c.2768T>C (p.Val923Ala)
n.4036T>C
3g.46999959T>GCA352516246NBEAL2c.3860T>G (p.Val1287Gly)
c.3758T>G (p.Val1253Gly)
n.197T>G
c.1960-237T>G
c.332T>G (p.Val111Gly)
c.3779T>G (p.Val1260Gly)
c.3839T>G (p.Val1280Gly)
c.3491T>G (p.Val1164Gly)
c.3320T>G (p.Val1107Gly)
c.3206T>G (p.Val1069Gly)
c.2768T>G (p.Val923Gly)
n.4036T>G
3g.46999960G>ACA433598109NBEAL2c.3861G>A (p.Val1287=)
c.3759G>A (p.Val1253=)
n.198G>A
c.1960-236G>A
c.333G>A (p.Val111=)
c.3780G>A (p.Val1260=)
c.3840G>A (p.Val1280=)
c.3492G>A (p.Val1164=)
c.3321G>A (p.Val1107=)
c.3207G>A (p.Val1069=)
c.2769G>A (p.Val923=)
n.4037G>A
3g.46999960G>CCA433598113NBEAL2c.3861G>C (p.Val1287=)
c.3759G>C (p.Val1253=)
n.198G>C
c.1960-236G>C
c.333G>C (p.Val111=)
c.3780G>C (p.Val1260=)
c.3840G>C (p.Val1280=)
c.3492G>C (p.Val1164=)
c.3321G>C (p.Val1107=)
c.3207G>C (p.Val1069=)
c.2769G>C (p.Val923=)
n.4037G>C
3g.46999960G>TCA433598110NBEAL2c.3861G>T (p.Val1287=)
c.3759G>T (p.Val1253=)
n.198G>T
c.1960-236G>T
c.333G>T (p.Val111=)
c.3780G>T (p.Val1260=)
c.3840G>T (p.Val1280=)
c.3492G>T (p.Val1164=)
c.3321G>T (p.Val1107=)
c.3207G>T (p.Val1069=)
c.2769G>T (p.Val923=)
n.4037G>T
3g.46999961C>ACA352516247NBEAL2c.3862C>A (p.Leu1288Met)
c.3760C>A (p.Leu1254Met)
n.199C>A
c.1960-235C>A
c.334C>A (p.Leu112Met)
c.3781C>A (p.Leu1261Met)
c.3841C>A (p.Leu1281Met)
c.3493C>A (p.Leu1165Met)
c.3322C>A (p.Leu1108Met)
c.3208C>A (p.Leu1070Met)
c.2770C>A (p.Leu924Met)
n.4038C>A
3g.46999961C=CA1362362943NBEAL2c.3862C= (p.Leu1288=)
c.3760C= (p.Leu1254=)
n.199C=
c.1960-235C=
c.334C= (p.Leu112=)
c.3781C= (p.Leu1261=)
c.3841C= (p.Leu1281=)
c.3493C= (p.Leu1165=)
c.3322C= (p.Leu1108=)
c.3208C= (p.Leu1070=)
c.2770C= (p.Leu924=)
n.4038C=
3g.46999961C>GCA73817520NBEAL2c.3862C>G (p.Leu1288Val)
c.3760C>G (p.Leu1254Val)
n.199C>G
c.1960-235C>G
c.334C>G (p.Leu112Val)
c.3781C>G (p.Leu1261Val)
c.3841C>G (p.Leu1281Val)
c.3493C>G (p.Leu1165Val)
c.3322C>G (p.Leu1108Val)
c.3208C>G (p.Leu1070Val)
c.2770C>G (p.Leu924Val)
n.4038C>G
 dbSNP
3g.46999961C>TCA433598117NBEAL2c.3862C>T (p.Leu1288=)
c.3760C>T (p.Leu1254=)
n.199C>T
c.1960-235C>T
c.334C>T (p.Leu112=)
c.3781C>T (p.Leu1261=)
c.3841C>T (p.Leu1281=)
c.3493C>T (p.Leu1165=)
c.3322C>T (p.Leu1108=)
c.3208C>T (p.Leu1070=)
c.2770C>T (p.Leu924=)
n.4038C>T
 gnomAD v4
3g.46999962T>ACA352516248NBEAL2c.3863T>A (p.Leu1288Gln)
c.3761T>A (p.Leu1254Gln)
n.200T>A
c.1960-234T>A
c.335T>A (p.Leu112Gln)
c.3782T>A (p.Leu1261Gln)
c.3842T>A (p.Leu1281Gln)
c.3494T>A (p.Leu1165Gln)
c.3323T>A (p.Leu1108Gln)
c.3209T>A (p.Leu1070Gln)
c.2771T>A (p.Leu924Gln)
n.4039T>A
3g.46999962T>CCA352516249NBEAL2c.3863T>C (p.Leu1288Pro)
c.3761T>C (p.Leu1254Pro)
n.200T>C
c.1960-234T>C
c.335T>C (p.Leu112Pro)
c.3782T>C (p.Leu1261Pro)
c.3842T>C (p.Leu1281Pro)
c.3494T>C (p.Leu1165Pro)
c.3323T>C (p.Leu1108Pro)
c.3209T>C (p.Leu1070Pro)
c.2771T>C (p.Leu924Pro)
n.4039T>C
 dbSNP
3g.46999962T>GCA352516250NBEAL2c.3863T>G (p.Leu1288Arg)
c.3761T>G (p.Leu1254Arg)
n.200T>G
c.1960-234T>G
c.335T>G (p.Leu112Arg)
c.3782T>G (p.Leu1261Arg)
c.3842T>G (p.Leu1281Arg)
c.3494T>G (p.Leu1165Arg)
c.3323T>G (p.Leu1108Arg)
c.3209T>G (p.Leu1070Arg)
c.2771T>G (p.Leu924Arg)
n.4039T>G
3g.46999962T=CA1362362944NBEAL2c.3863T= (p.Leu1288=)
c.3761T= (p.Leu1254=)
n.200T=
c.1960-234T=
c.335T= (p.Leu112=)
c.3782T= (p.Leu1261=)
c.3842T= (p.Leu1281=)
c.3494T= (p.Leu1165=)
c.3323T= (p.Leu1108=)
c.3209T= (p.Leu1070=)
c.2771T= (p.Leu924=)
n.4039T=
3g.46999963G>ACA2361092NBEAL2c.3864G>A (p.Leu1288=)
c.3762G>A (p.Leu1254=)
n.201G>A
c.1960-233G>A
c.336G>A (p.Leu112=)
c.3783G>A (p.Leu1261=)
c.3843G>A (p.Leu1281=)
c.3495G>A (p.Leu1165=)
c.3324G>A (p.Leu1108=)
c.3210G>A (p.Leu1070=)
c.2772G>A (p.Leu924=)
n.4040G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.46999963G>CCA433598122NBEAL2c.3864G>C (p.Leu1288=)
c.3762G>C (p.Leu1254=)
n.201G>C
c.1960-233G>C
c.336G>C (p.Leu112=)
c.3783G>C (p.Leu1261=)
c.3843G>C (p.Leu1281=)
c.3495G>C (p.Leu1165=)
c.3324G>C (p.Leu1108=)
c.3210G>C (p.Leu1070=)
c.2772G>C (p.Leu924=)
n.4040G>C
3g.46999963G=CA1362362945NBEAL2c.3864G= (p.Leu1288=)
c.3762G= (p.Leu1254=)
n.201G=
c.1960-233G=
c.336G= (p.Leu112=)
c.3783G= (p.Leu1261=)
c.3843G= (p.Leu1281=)
c.3495G= (p.Leu1165=)
c.3324G= (p.Leu1108=)
c.3210G= (p.Leu1070=)
c.2772G= (p.Leu924=)
n.4040G=
3g.46999963G>TCA433598128NBEAL2c.3864G>T (p.Leu1288=)
c.3762G>T (p.Leu1254=)
n.201G>T
c.1960-233G>T
c.336G>T (p.Leu112=)
c.3783G>T (p.Leu1261=)
c.3843G>T (p.Leu1281=)
c.3495G>T (p.Leu1165=)
c.3324G>T (p.Leu1108=)
c.3210G>T (p.Leu1070=)
c.2772G>T (p.Leu924=)
n.4040G>T
3g.46999964A=CA1362362946NBEAL2c.3865A= (p.Thr1289=)
c.3763A= (p.Thr1255=)
n.202A=
c.1960-232A=
c.337A= (p.Thr113=)
c.3784A= (p.Thr1262=)
c.3844A= (p.Thr1282=)
c.3496A= (p.Thr1166=)
c.3325A= (p.Thr1109=)
c.3211A= (p.Thr1071=)
c.2773A= (p.Thr925=)
n.4041A=
3g.46999964A>CCA352516251NBEAL2c.3865A>C (p.Thr1289Pro)
c.3763A>C (p.Thr1255Pro)
n.202A>C
c.1960-232A>C
c.337A>C (p.Thr113Pro)
c.3784A>C (p.Thr1262Pro)
c.3844A>C (p.Thr1282Pro)
c.3496A>C (p.Thr1166Pro)
c.3325A>C (p.Thr1109Pro)
c.3211A>C (p.Thr1071Pro)
c.2773A>C (p.Thr925Pro)
n.4041A>C
 dbSNP
3g.46999964A>GCA352516253NBEAL2c.3865A>G (p.Thr1289Ala)
c.3763A>G (p.Thr1255Ala)
n.202A>G
c.1960-232A>G
c.337A>G (p.Thr113Ala)
c.3784A>G (p.Thr1262Ala)
c.3844A>G (p.Thr1282Ala)
c.3496A>G (p.Thr1166Ala)
c.3325A>G (p.Thr1109Ala)
c.3211A>G (p.Thr1071Ala)
c.2773A>G (p.Thr925Ala)
n.4041A>G
 dbSNP gnomAD v2 gnomAD v4 COSMIC
3g.46999964A>TCA352516252NBEAL2c.3865A>T (p.Thr1289Ser)
c.3763A>T (p.Thr1255Ser)
n.202A>T
c.1960-232A>T
c.337A>T (p.Thr113Ser)
c.3784A>T (p.Thr1262Ser)
c.3844A>T (p.Thr1282Ser)
c.3496A>T (p.Thr1166Ser)
c.3325A>T (p.Thr1109Ser)
c.3211A>T (p.Thr1071Ser)
c.2773A>T (p.Thr925Ser)
n.4041A>T
3g.46999965C>ACA352516254NBEAL2c.3866C>A (p.Thr1289Asn)
c.3764C>A (p.Thr1255Asn)
n.203C>A
c.1960-231C>A
c.338C>A (p.Thr113Asn)
c.3785C>A (p.Thr1262Asn)
c.3845C>A (p.Thr1282Asn)
c.3497C>A (p.Thr1166Asn)
c.3326C>A (p.Thr1109Asn)
c.3212C>A (p.Thr1071Asn)
c.2774C>A (p.Thr925Asn)
n.4042C>A
 dbSNP gnomAD v2 gnomAD v4
3g.46999965C=CA1362362947NBEAL2c.3866C= (p.Thr1289=)
c.3764C= (p.Thr1255=)
n.203C=
c.1960-231C=
c.338C= (p.Thr113=)
c.3785C= (p.Thr1262=)
c.3845C= (p.Thr1282=)
c.3497C= (p.Thr1166=)
c.3326C= (p.Thr1109=)
c.3212C= (p.Thr1071=)
c.2774C= (p.Thr925=)
n.4042C=
3g.46999965C>GCA352516255NBEAL2c.3866C>G (p.Thr1289Ser)
c.3764C>G (p.Thr1255Ser)
n.203C>G
c.1960-231C>G
c.338C>G (p.Thr113Ser)
c.3785C>G (p.Thr1262Ser)
c.3845C>G (p.Thr1282Ser)
c.3497C>G (p.Thr1166Ser)
c.3326C>G (p.Thr1109Ser)
c.3212C>G (p.Thr1071Ser)
c.2774C>G (p.Thr925Ser)
n.4042C>G
 dbSNP
3g.46999965C>TCA2361093NBEAL2c.3866C>T (p.Thr1289Ile)
c.3764C>T (p.Thr1255Ile)
n.203C>T
c.1960-231C>T
c.338C>T (p.Thr113Ile)
c.3785C>T (p.Thr1262Ile)
c.3845C>T (p.Thr1282Ile)
c.3497C>T (p.Thr1166Ile)
c.3326C>T (p.Thr1109Ile)
c.3212C>T (p.Thr1071Ile)
c.2774C>T (p.Thr925Ile)
n.4042C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.46999966C>ACA433598129NBEAL2c.3867C>A (p.Thr1289=)
c.3765C>A (p.Thr1255=)
n.204C>A
c.1960-230C>A
c.339C>A (p.Thr113=)
c.3786C>A (p.Thr1262=)
c.3846C>A (p.Thr1282=)
c.3498C>A (p.Thr1166=)
c.3327C>A (p.Thr1109=)
c.3213C>A (p.Thr1071=)
c.2775C>A (p.Thr925=)
n.4043C>A
3g.46999966C>GCA433598133NBEAL2c.3867C>G (p.Thr1289=)
c.3765C>G (p.Thr1255=)
n.204C>G
c.1960-230C>G
c.339C>G (p.Thr113=)
c.3786C>G (p.Thr1262=)
c.3846C>G (p.Thr1282=)
c.3498C>G (p.Thr1166=)
c.3327C>G (p.Thr1109=)
c.3213C>G (p.Thr1071=)
c.2775C>G (p.Thr925=)
n.4043C>G
 gnomAD v4
3g.46999966C>TCA433598131NBEAL2c.3867C>T (p.Thr1289=)
c.3765C>T (p.Thr1255=)
n.204C>T
c.1960-230C>T
c.339C>T (p.Thr113=)
c.3786C>T (p.Thr1262=)
c.3846C>T (p.Thr1282=)
c.3498C>T (p.Thr1166=)
c.3327C>T (p.Thr1109=)
c.3213C>T (p.Thr1071=)
c.2775C>T (p.Thr925=)
n.4043C>T
 gnomAD v4

Number of alleles fetched