Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.46999880C= | CA1362362910 | NBEAL2 | c.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= | |
3 | g.46999880C>G | CA73817426 | NBEAL2 | c.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 |
3 | g.46999880C>T | CA2361080 | NBEAL2 | c.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 |
3 | g.46999881G>A | CA2361081 | NBEAL2 | c.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 |
3 | g.46999881G= | CA1362362911 | NBEAL2 | c.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= | |
3 | g.46999881G>T | CA2361082 | NBEAL2 | c.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 |
3 | g.46999884T>G | CA2665493209 | NBEAL2 | c.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 |
3 | g.46999885G>A | CA543042643 | NBEAL2 | c.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 |
3 | g.46999885G= | CA1362362912 | NBEAL2 | c.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= | |
3 | g.46999886C>A | CA2665493210 | NBEAL2 | c.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 |
3 | g.46999886C= | CA1362362913 | NBEAL2 | c.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= | |
3 | g.46999886C>T | CA1362362914 | NBEAL2 | c.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 |
3 | g.46999887A>C | CA352515354 | NBEAL2 | c.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 | |
3 | g.46999887A>G | CA352515352 | NBEAL2 | c.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 | |
3 | g.46999887A>T | CA352515353 | NBEAL2 | c.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 | |
3 | g.46999888G>A | CA352515355 | NBEAL2 | c.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 |
3 | g.46999888G>C | CA352515356 | NBEAL2 | c.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 | |
3 | g.46999888G>T | CA352515357 | NBEAL2 | c.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 | |
3 | g.46999889C>A | CA352515358 | NBEAL2 | c.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 | |
3 | g.46999889C= | CA1362362915 | NBEAL2 | c.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= | |
3 | g.46999889C>G | CA352515359 | NBEAL2 | c.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 | |
3 | g.46999889C>T | CA352515360 | NBEAL2 | c.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 |
3 | g.46999890T>A | CA352515361 | NBEAL2 | c.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 | |
3 | g.46999890T>C | CA352515362 | NBEAL2 | c.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 | |
3 | g.46999890T>G | CA352515363 | NBEAL2 | c.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 | |
3 | g.46999893del | CA2665493212 | NBEAL2 | c.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 |
3 | g.46999891T>A | CA433477086 | NBEAL2 | c.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 | |
3 | g.46999891T>C | CA433477084 | NBEAL2 | c.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 | |
3 | g.46999891T>G | CA433477085 | NBEAL2 | c.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 | |
3 | g.46999892T>A | CA352515364 | NBEAL2 | c.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 | |
3 | g.46999892T>C | CA352515365 | NBEAL2 | c.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 | |
3 | g.46999892T>G | CA352515366 | NBEAL2 | c.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 | |
3 | g.46999893T>A | CA352515369 | NBEAL2 | c.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 | |
3 | g.46999893T>C | CA352515368 | NBEAL2 | c.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 | |
3 | g.46999893T>G | CA352515367 | NBEAL2 | c.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 |
3 | g.46999894C>A | CA352515371 | NBEAL2 | c.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 | |
3 | g.46999894C= | CA1362362916 | NBEAL2 | c.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= | |
3 | g.46999894C>G | CA352515370 | NBEAL2 | c.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 | |
3 | g.46999894C>T | CA433477087 | NBEAL2 | c.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 |
3 | g.46999895C>A | CA352515372 | NBEAL2 | c.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 | |
3 | g.46999895C= | CA1362362917 | NBEAL2 | c.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= | |
3 | g.46999895C>G | CA352515373 | NBEAL2 | c.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 | |
3 | g.46999895C>T | CA352515374 | NBEAL2 | c.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 |
3 | g.46999896A>C | CA352515375 | NBEAL2 | c.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 | |
3 | g.46999896A>G | CA352515376 | NBEAL2 | c.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 | |
3 | g.46999896A>T | CA352515377 | NBEAL2 | c.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 | |
3 | g.46999897C>A | CA352515378 | NBEAL2 | c.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 | |
3 | g.46999897C>G | CA352515379 | NBEAL2 | c.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 | |
3 | g.46999897C>T | CA433477091 | NBEAL2 | c.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 | |
3 | g.46999898C>A | CA352515380 | NBEAL2 | c.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 | |
3 | g.46999898C>G | CA352515381 | NBEAL2 | c.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 | |
3 | g.46999898C>T | CA352515382 | NBEAL2 | c.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 | |
3 | g.46999899T>A | CA352515385 | NBEAL2 | c.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 | |
3 | g.46999899T>C | CA352515384 | NBEAL2 | c.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 | |
3 | g.46999899T>G | CA352515383 | NBEAL2 | c.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 | |
3 | g.46999900C>A | CA433477095 | NBEAL2 | c.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 |
3 | g.46999900C>G | CA433477096 | NBEAL2 | c.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 | |
3 | g.46999900C>T | CA433477097 | NBEAL2 | c.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 | |
3 | g.46999901A>C | CA352515386 | NBEAL2 | c.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 | |
3 | g.46999901A>G | CA352515387 | NBEAL2 | c.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 | |
3 | g.46999901A>T | CA352515388 | NBEAL2 | c.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 | |
3 | g.46999902T>A | CA352515389 | NBEAL2 | c.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 | |
3 | g.46999902T>C | CA352515390 | NBEAL2 | c.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 |
3 | g.46999902T>G | CA352515391 | NBEAL2 | c.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 | |
3 | g.46999903C>A | CA433477101 | NBEAL2 | c.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 | |
3 | g.46999903C= | CA1362362918 | NBEAL2 | c.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= | |
3 | g.46999903C>G | CA2361083 | NBEAL2 | c.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 |
3 | g.46999903C>T | CA433477102 | NBEAL2 | c.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 | |
3 | g.46999904T>A | CA352515392 | NBEAL2 | c.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 | |
3 | g.46999904T>C | CA352515393 | NBEAL2 | c.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 |
3 | g.46999904T>G | CA352515394 | NBEAL2 | c.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 | |
3 | g.46999905A>C | CA352515395 | NBEAL2 | c.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 | |
3 | g.46999905A>G | CA352515396 | NBEAL2 | c.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 |
3 | g.46999905A>T | CA352515397 | NBEAL2 | c.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 | |
3 | g.46999906C>A | CA352515398 | NBEAL2 | c.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 | |
3 | g.46999906C= | CA1362362919 | NBEAL2 | c.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= | |
3 | g.46999906C>G | CA352515399 | NBEAL2 | c.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 | |
3 | g.46999906C>T | CA2361084 | NBEAL2 | c.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 |
3 | g.46999907G>A | CA2361085 | NBEAL2 | c.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 |
3 | g.46999907G>C | CA352515401 | NBEAL2 | c.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 |
3 | g.46999907G= | CA1362362920 | NBEAL2 | c.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= | |
3 | g.46999907G>T | CA352515400 | NBEAL2 | c.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 | |
3 | g.46999908G>A | CA352515402 | NBEAL2 | c.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 | |
3 | g.46999908G>C | CA352515403 | NBEAL2 | c.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 | |
3 | g.46999908G>T | CA352515404 | NBEAL2 | c.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 | |
3 | g.46999909A>C | CA433477104 | NBEAL2 | c.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 | |
3 | g.46999909A>G | CA433477105 | NBEAL2 | c.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 | |
3 | g.46999909A>T | CA433477106 | NBEAL2 | c.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 | |
3 | g.46999910C>A | CA352515405 | NBEAL2 | c.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 | |
3 | g.46999910C>G | CA352515406 | NBEAL2 | c.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 | |
3 | g.46999910C>T | CA352515407 | NBEAL2 | c.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 | |
3 | g.46999911A>C | CA352515408 | NBEAL2 | c.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 | |
3 | g.46999911A>G | CA352515409 | NBEAL2 | c.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 | |
3 | g.46999911A>T | CA352515410 | NBEAL2 | c.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 | |
3 | g.46999912G>A | CA433477107 | NBEAL2 | c.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 |
3 | g.46999912G>C | CA352515411 | NBEAL2 | c.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 | |
3 | g.46999912G= | CA1362362921 | NBEAL2 | c.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= | |
3 | g.46999912G>T | CA352515412 | NBEAL2 | c.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 | |
3 | g.46999913C>A | CA352515415 | NBEAL2 | c.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 | |
3 | g.46999913C= | CA1362362922 | NBEAL2 | c.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= | |
3 | g.46999913C>G | CA352515414 | NBEAL2 | c.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 | |
3 | g.46999913C>T | CA352515413 | NBEAL2 | c.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 |
3 | g.46999914C>A | CA352515416 | NBEAL2 | c.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 | |
3 | g.46999914C= | CA1362362923 | NBEAL2 | c.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= | |
3 | g.46999914C>G | CA352515417 | NBEAL2 | c.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 | |
3 | g.46999914C>T | CA352515418 | NBEAL2 | c.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 |
3 | g.46999915A= | CA1362362924 | NBEAL2 | c.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= | |
3 | g.46999915A>C | CA433477111 | NBEAL2 | c.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 | |
3 | g.46999915A>G | CA433477112 | NBEAL2 | c.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 |
3 | g.46999915A>T | CA433477113 | NBEAL2 | c.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 | |
3 | g.46999916G>A | CA352515419 | NBEAL2 | c.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 |
3 | g.46999916G>C | CA352515420 | NBEAL2 | c.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 | |
3 | g.46999916G>T | CA352515421 | NBEAL2 | c.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 | |
3 | g.46999917A>C | CA352515422 | NBEAL2 | c.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 | |
3 | g.46999917A>G | CA352515423 | NBEAL2 | c.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 | |
3 | g.46999917A>T | CA352515424 | NBEAL2 | c.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 | |
3 | g.46999918T>A | CA352515425 | NBEAL2 | c.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 | |
3 | g.46999918T>C | CA433477115 | NBEAL2 | c.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 |
3 | g.46999918T>G | CA352515426 | NBEAL2 | c.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 |
3 | g.46999918T= | CA1362362925 | NBEAL2 | c.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= | |
3 | g.46999920_47000275del | CA913187439 | NBEAL2 | c.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 | |
3 | g.46999919del | CA2577577259 | NBEAL2 | c.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 | |
3 | g.46999919G>A | CA352515429 | NBEAL2 | c.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 |
3 | g.46999919G>C | CA352515428 | NBEAL2 | c.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 | |
3 | g.46999919G= | CA1362362926 | NBEAL2 | c.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= | |
3 | g.46999919G>T | CA352515427 | NBEAL2 | c.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 | |
3 | g.46999921_46999923dup | CA907614372 | NBEAL2 | c.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 |
3 | g.46999920T>A | CA352515430 | NBEAL2 | c.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 | |
3 | g.46999920T>C | CA352515431 | NBEAL2 | c.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 | |
3 | g.46999920T>G | CA352515432 | NBEAL2 | c.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 | |
3 | g.46999921A>C | CA433477119 | NBEAL2 | c.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 | |
3 | g.46999921A>G | CA433477118 | NBEAL2 | c.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 | |
3 | g.46999921A>T | CA433477117 | NBEAL2 | c.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 | |
3 | g.46999922G>A | CA2361086 | NBEAL2 | c.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 |
3 | g.46999922G>C | CA352515433 | NBEAL2 | c.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 | |
3 | g.46999922G= | CA1362362927 | NBEAL2 | c.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= | |
3 | g.46999922G>T | CA352515434 | NBEAL2 | c.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 |
3 | g.46999923T>A | CA352515437 | NBEAL2 | c.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 | |
3 | g.46999923T>C | CA352515435 | NBEAL2 | c.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 | |
3 | g.46999923T>G | CA352515436 | NBEAL2 | c.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 |
3 | g.46999924G>A | CA433477120 | NBEAL2 | c.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 |
3 | g.46999924G>C | CA433477122 | NBEAL2 | c.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 | |
3 | g.46999924G= | CA1362362928 | NBEAL2 | c.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= | |
3 | g.46999924G>T | CA433477121 | NBEAL2 | c.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 | |
3 | g.46999925C>A | CA433477123 | NBEAL2 | c.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 | |
3 | g.46999925C= | CA1362362929 | NBEAL2 | c.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= | |
3 | g.46999925C>G | CA352515438 | NBEAL2 | c.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 |
3 | g.46999925C>T | CA2361087 | NBEAL2 | c.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 |
3 | g.46999926G>A | CA2361088 | NBEAL2 | c.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 |
3 | g.46999926G>C | CA352515439 | NBEAL2 | c.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 |
3 | g.46999926G= | CA1362362930 | NBEAL2 | c.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= | |
3 | g.46999926G>T | CA352515440 | NBEAL2 | c.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 | |
3 | g.46999927G>A | CA433477124 | NBEAL2 | c.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 | |
3 | g.46999927G>C | CA433477125 | NBEAL2 | c.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 | |
3 | g.46999927G>T | CA433477126 | NBEAL2 | c.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 | |
3 | g.46999928C>A | CA352515441 | NBEAL2 | c.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 | |
3 | g.46999928C>G | CA352515443 | NBEAL2 | c.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 | |
3 | g.46999928C>T | CA352515442 | NBEAL2 | c.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 | |
3 | g.46999929T>A | CA352515444 | NBEAL2 | c.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 | |
3 | g.46999929T>C | CA352515445 | NBEAL2 | c.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 | |
3 | g.46999929T>G | CA352515446 | NBEAL2 | c.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 | |
3 | g.46999930T>A | CA433477127 | NBEAL2 | c.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 | |
3 | g.46999930T>C | CA433477128 | NBEAL2 | c.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 | |
3 | g.46999930T>G | CA433477129 | NBEAL2 | c.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 |
3 | g.46999930T= | CA1362362931 | NBEAL2 | c.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= | |
3 | g.46999931C>A | CA352515447 | NBEAL2 | c.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 | |
3 | g.46999931C>G | CA352515448 | NBEAL2 | c.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 | |
3 | g.46999931C>T | CA433477130 | NBEAL2 | c.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 |
3 | g.46999932T>A | CA352515449 | NBEAL2 | c.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 | |
3 | g.46999932T>C | CA352515450 | NBEAL2 | c.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 | |
3 | g.46999932T>G | CA352515451 | NBEAL2 | c.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 | |
3 | g.46999933G>A | CA433477131 | NBEAL2 | c.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 | |
3 | g.46999933G>C | CA433477132 | NBEAL2 | c.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 | |
3 | g.46999933G>T | CA433477133 | NBEAL2 | c.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 |
3 | g.46999934G>A | CA352515452 | NBEAL2 | c.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 | |
3 | g.46999934G>C | CA352515453 | NBEAL2 | c.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 | |
3 | g.46999934G>T | CA352515454 | NBEAL2 | c.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 |
3 | g.46999935C>A | CA352515456 | NBEAL2 | c.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 | |
3 | g.46999935C= | CA1362362932 | NBEAL2 | c.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= | |
3 | g.46999935C>G | CA352515455 | NBEAL2 | c.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 | |
3 | g.46999935C>T | CA73817487 | NBEAL2 | c.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 |
3 | g.46999936C>A | CA433477134 | NBEAL2 | c.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 | |
3 | g.46999936C>G | CA433477135 | NBEAL2 | c.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 | |
3 | g.46999936C>T | CA433477136 | NBEAL2 | c.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 | |
3 | g.46999937C>A | CA433477137 | NBEAL2 | c.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 | |
3 | g.46999937C= | CA1362362933 | NBEAL2 | c.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= | |
3 | g.46999937C>G | CA352515457 | NBEAL2 | c.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 |
3 | g.46999937C>T | CA73817495 | NBEAL2 | c.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 |
3 | g.46999938G>A | CA2361089 | NBEAL2 | c.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 |
3 | g.46999938G>C | CA352515458 | NBEAL2 | c.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 | |
3 | g.46999938G= | CA1362362934 | NBEAL2 | c.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= | |
3 | g.46999938G>T | CA352515459 | NBEAL2 | c.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 |
3 | g.46999939A>C | CA433477138 | NBEAL2 | c.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 | |
3 | g.46999939A>G | CA433477140 | NBEAL2 | c.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 | |
3 | g.46999939A>T | CA433477139 | NBEAL2 | c.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 | |
3 | g.46999940C>A | CA352516198 | NBEAL2 | c.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 | |
3 | g.46999940C>G | CA352516199 | NBEAL2 | c.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 |
3 | g.46999940C>T | CA352516200 | NBEAL2 | c.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 | |
3 | g.46999941A>C | CA352516203 | NBEAL2 | c.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 | |
3 | g.46999941A>G | CA352516201 | NBEAL2 | c.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 | |
3 | g.46999941A>T | CA352516202 | NBEAL2 | c.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 | |
3 | g.46999942G>A | CA73817510 | NBEAL2 | c.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 |
3 | g.46999942G>C | CA352516204 | NBEAL2 | c.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 |
3 | g.46999942G= | CA1362362935 | NBEAL2 | c.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= | |
3 | g.46999942G>T | CA352516205 | NBEAL2 | c.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 | |
3 | g.46999943G>A | CA352516206 | NBEAL2 | c.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 | |
3 | g.46999943G>C | CA352516207 | NBEAL2 | c.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 |
3 | g.46999943G= | CA1362362936 | NBEAL2 | c.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= | |
3 | g.46999943G>T | CA352516208 | NBEAL2 | c.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 | |
3 | g.46999944C>A | CA352516209 | NBEAL2 | c.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 | |
3 | g.46999944C>G | CA352516211 | NBEAL2 | c.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 | |
3 | g.46999944C>T | CA352516210 | NBEAL2 | c.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 | |
3 | g.46999945T>A | CA433598069 | NBEAL2 | c.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 | |
3 | g.46999945T>C | CA433598071 | NBEAL2 | c.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 |
3 | g.46999945T>G | CA433598070 | NBEAL2 | c.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 | |
3 | g.46999946G>A | CA352516212 | NBEAL2 | c.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 |
3 | g.46999946G>C | CA352516213 | NBEAL2 | c.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 | |
3 | g.46999946G= | CA1362362937 | NBEAL2 | c.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= | |
3 | g.46999946G>T | CA352516214 | NBEAL2 | c.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 | |
3 | g.46999947G>A | CA352516215 | NBEAL2 | c.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 |
3 | g.46999947G>C | CA352516216 | NBEAL2 | c.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 | |
3 | g.46999947G= | CA1362362938 | NBEAL2 | c.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= | |
3 | g.46999947G>T | CA2361090 | NBEAL2 | c.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 |
3 | g.46999948C>A | CA433598078 | NBEAL2 | c.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 | |
3 | g.46999948C>G | CA433598083 | NBEAL2 | c.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 | |
3 | g.46999948C>T | CA433598085 | NBEAL2 | c.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 |
3 | g.46999949T>A | CA352516217 | NBEAL2 | c.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 |
3 | g.46999949T>C | CA352516218 | NBEAL2 | c.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 | |
3 | g.46999949T>G | CA352516219 | NBEAL2 | c.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 |
3 | g.46999950G>A | CA352516220 | NBEAL2 | c.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 | |
3 | g.46999950G>C | CA352516221 | NBEAL2 | c.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 | |
3 | g.46999950G>T | CA352516222 | NBEAL2 | c.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 | |
3 | g.46999950_46999953dup | CA2665493215 | NBEAL2 | c.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 |
3 | g.46999951G>A | CA352516223 | NBEAL2 | c.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 |
3 | g.46999951G>C | CA352516225 | NBEAL2 | c.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 | |
3 | g.46999951G>T | CA352516224 | NBEAL2 | c.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 |
3 | g.46999952C>A | CA352516226 | NBEAL2 | c.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 | |
3 | g.46999952C>G | CA352516227 | NBEAL2 | c.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 | |
3 | g.46999952C>T | CA352516228 | NBEAL2 | c.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 | |
3 | g.46999953A>C | CA352516229 | NBEAL2 | c.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 | |
3 | g.46999953A>G | CA352516230 | NBEAL2 | c.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 | |
3 | g.46999953A>T | CA352516231 | NBEAL2 | c.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 | |
3 | g.46999954A>C | CA352516232 | NBEAL2 | c.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 | |
3 | g.46999954A>G | CA433598097 | NBEAL2 | c.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 |
3 | g.46999954A>T | CA352516233 | NBEAL2 | c.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 | |
3 | g.46999955G>A | CA352516234 | NBEAL2 | c.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 |
3 | g.46999955G>C | CA352516235 | NBEAL2 | c.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 | |
3 | g.46999955G= | CA1362362939 | NBEAL2 | c.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= | |
3 | g.46999955G>T | CA352516236 | NBEAL2 | c.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 |
3 | g.46999956A= | CA1362362940 | NBEAL2 | c.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= | |
3 | g.46999956A>C | CA352516237 | NBEAL2 | c.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 | |
3 | g.46999956A>G | CA352516238 | NBEAL2 | c.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 | |
3 | g.46999956A>T | CA352516239 | NBEAL2 | c.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 |
3 | g.46999957T>A | CA352516240 | NBEAL2 | c.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 | |
3 | g.46999957T>C | CA433598105 | NBEAL2 | c.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 |
3 | g.46999957T>G | CA352516241 | NBEAL2 | c.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 | |
3 | g.46999957T= | CA1362362941 | NBEAL2 | c.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= | |
3 | g.46999958G>A | CA2361091 | NBEAL2 | c.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 |
3 | g.46999958G>C | CA352516242 | NBEAL2 | c.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 | |
3 | g.46999958G= | CA1362362942 | NBEAL2 | c.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= | |
3 | g.46999958G>T | CA352516243 | NBEAL2 | c.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 | |
3 | g.46999959T>A | CA352516244 | NBEAL2 | c.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 |
3 | g.46999959T>C | CA352516245 | NBEAL2 | c.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 | |
3 | g.46999959T>G | CA352516246 | NBEAL2 | c.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 | |
3 | g.46999960G>A | CA433598109 | NBEAL2 | c.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 | |
3 | g.46999960G>C | CA433598113 | NBEAL2 | c.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 | |
3 | g.46999960G>T | CA433598110 | NBEAL2 | c.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 | |
3 | g.46999961C>A | CA352516247 | NBEAL2 | c.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 | |
3 | g.46999961C= | CA1362362943 | NBEAL2 | c.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= | |
3 | g.46999961C>G | CA73817520 | NBEAL2 | c.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 |
3 | g.46999961C>T | CA433598117 | NBEAL2 | c.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 |
3 | g.46999962T>A | CA352516248 | NBEAL2 | c.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 | |
3 | g.46999962T>C | CA352516249 | NBEAL2 | c.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 |
3 | g.46999962T>G | CA352516250 | NBEAL2 | c.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 | |
3 | g.46999962T= | CA1362362944 | NBEAL2 | c.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= | |
3 | g.46999963G>A | CA2361092 | NBEAL2 | c.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 |
3 | g.46999963G>C | CA433598122 | NBEAL2 | c.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 | |
3 | g.46999963G= | CA1362362945 | NBEAL2 | c.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= | |
3 | g.46999963G>T | CA433598128 | NBEAL2 | c.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 | |
3 | g.46999964A= | CA1362362946 | NBEAL2 | c.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= | |
3 | g.46999964A>C | CA352516251 | NBEAL2 | c.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 |
3 | g.46999964A>G | CA352516253 | NBEAL2 | c.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 |
3 | g.46999964A>T | CA352516252 | NBEAL2 | c.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 | |
3 | g.46999965C>A | CA352516254 | NBEAL2 | c.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 |
3 | g.46999965C= | CA1362362947 | NBEAL2 | c.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= | |
3 | g.46999965C>G | CA352516255 | NBEAL2 | c.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 |
3 | g.46999965C>T | CA2361093 | NBEAL2 | c.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 |
3 | g.46999966C>A | CA433598129 | NBEAL2 | c.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 | |
3 | g.46999966C>G | CA433598133 | NBEAL2 | c.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 |
3 | g.46999966C>T | CA433598131 | NBEAL2 | c.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 |
3 | g.46999967C>A | CA433598135 | NBEAL2 | c.3868C>A (p.Arg1290=) c.3766C>A (p.Arg1256=) n.205C>A c.1960-229C>A c.340C>A (p.Arg114=) c.3787C>A (p.Arg1263=) c.3847C>A (p.Arg1283=) c.3499C>A (p.Arg1167=) c.3328C>A (p.Arg1110=) c.3214C>A (p.Arg1072=) c.2776C>A (p.Arg926=) n.4044C>A | |
3 | g.46999967C= | CA1362362948 | NBEAL2 | c.3868C= (p.Arg1290=) c.3766C= (p.Arg1256=) n.205C= c.1960-229C= c.340C= (p.Arg114=) c.3787C= (p.Arg1263=) c.3847C= (p.Arg1283=) c.3499C= (p.Arg1167=) c.3328C= (p.Arg1110=) c.3214C= (p.Arg1072=) c.2776C= (p.Arg926=) n.4044C= | |
3 | g.46999967C>G | CA352516256 | NBEAL2 | c.3868C>G (p.Arg1290Gly) c.3766C>G (p.Arg1256Gly) n.205C>G c.1960-229C>G c.340C>G (p.Arg114Gly) c.3787C>G (p.Arg1263Gly) c.3847C>G (p.Arg1283Gly) c.3499C>G (p.Arg1167Gly) c.3328C>G (p.Arg1110Gly) c.3214C>G (p.Arg1072Gly) c.2776C>G (p.Arg926Gly) n.4044C>G | |
3 | g.46999967C>T | CA352516257 | NBEAL2 | c.3868C>T (p.Arg1290Trp) c.3766C>T (p.Arg1256Trp) n.205C>T c.1960-229C>T c.340C>T (p.Arg114Trp) c.3787C>T (p.Arg1263Trp) c.3847C>T (p.Arg1283Trp) c.3499C>T (p.Arg1167Trp) c.3328C>T (p.Arg1110Trp) c.3214C>T (p.Arg1072Trp) c.2776C>T (p.Arg926Trp) n.4044C>T | dbSNP gnomAD v2 gnomAD v4 COSMIC |
3 | g.46999968G>A | CA2361094 | NBEAL2 | c.3869G>A (p.Arg1290Gln) c.3767G>A (p.Arg1256Gln) n.206G>A c.1960-228G>A c.341G>A (p.Arg114Gln) c.3788G>A (p.Arg1263Gln) c.3848G>A (p.Arg1283Gln) c.3500G>A (p.Arg1167Gln) c.3329G>A (p.Arg1110Gln) c.3215G>A (p.Arg1072Gln) c.2777G>A (p.Arg926Gln) n.4045G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.46999968G>C | CA352516258 | NBEAL2 | c.3869G>C (p.Arg1290Pro) c.3767G>C (p.Arg1256Pro) n.206G>C c.1960-228G>C c.341G>C (p.Arg114Pro) c.3788G>C (p.Arg1263Pro) c.3848G>C (p.Arg1283Pro) c.3500G>C (p.Arg1167Pro) c.3329G>C (p.Arg1110Pro) c.3215G>C (p.Arg1072Pro) c.2777G>C (p.Arg926Pro) n.4045G>C | |
3 | g.46999968G= | CA1362362949 | NBEAL2 | c.3869G= (p.Arg1290=) c.3767G= (p.Arg1256=) n.206G= c.1960-228G= c.341G= (p.Arg114=) c.3788G= (p.Arg1263=) c.3848G= (p.Arg1283=) c.3500G= (p.Arg1167=) c.3329G= (p.Arg1110=) c.3215G= (p.Arg1072=) c.2777G= (p.Arg926=) n.4045G= | |
3 | g.46999968G>T | CA352516259 | NBEAL2 | c.3869G>T (p.Arg1290Leu) c.3767G>T (p.Arg1256Leu) n.206G>T c.1960-228G>T c.341G>T (p.Arg114Leu) c.3788G>T (p.Arg1263Leu) c.3848G>T (p.Arg1283Leu) c.3500G>T (p.Arg1167Leu) c.3329G>T (p.Arg1110Leu) c.3215G>T (p.Arg1072Leu) c.2777G>T (p.Arg926Leu) n.4045G>T | |
3 | g.46999969G>A | CA433598136 | NBEAL2 | c.3870G>A (p.Arg1290=) c.3768G>A (p.Arg1256=) n.207G>A c.1960-227G>A c.342G>A (p.Arg114=) c.3789G>A (p.Arg1263=) c.3849G>A (p.Arg1283=) c.3501G>A (p.Arg1167=) c.3330G>A (p.Arg1110=) c.3216G>A (p.Arg1072=) c.2778G>A (p.Arg926=) n.4046G>A | dbSNP gnomAD v2 gnomAD v4 |
3 | g.46999969G>C | CA433598137 | NBEAL2 | c.3870G>C (p.Arg1290=) c.3768G>C (p.Arg1256=) n.207G>C c.1960-227G>C c.342G>C (p.Arg114=) c.3789G>C (p.Arg1263=) c.3849G>C (p.Arg1283=) c.3501G>C (p.Arg1167=) c.3330G>C (p.Arg1110=) c.3216G>C (p.Arg1072=) c.2778G>C (p.Arg926=) n.4046G>C | |
3 | g.46999969G= | CA1362362950 | NBEAL2 | c.3870G= (p.Arg1290=) c.3768G= (p.Arg1256=) n.207G= c.1960-227G= c.342G= (p.Arg114=) c.3789G= (p.Arg1263=) c.3849G= (p.Arg1283=) c.3501G= (p.Arg1167=) c.3330G= (p.Arg1110=) c.3216G= (p.Arg1072=) c.2778G= (p.Arg926=) n.4046G= | |
3 | g.46999969G>T | CA433598138 | NBEAL2 | c.3870G>T (p.Arg1290=) c.3768G>T (p.Arg1256=) n.207G>T c.1960-227G>T c.342G>T (p.Arg114=) c.3789G>T (p.Arg1263=) c.3849G>T (p.Arg1283=) c.3501G>T (p.Arg1167=) c.3330G>T (p.Arg1110=) c.3216G>T (p.Arg1072=) c.2778G>T (p.Arg926=) n.4046G>T | |
3 | g.46999970C>A | CA352516260 | NBEAL2 | c.3871C>A (p.Leu1291Ile) c.3769C>A (p.Leu1257Ile) n.208C>A c.1960-226C>A c.343C>A (p.Leu115Ile) c.3790C>A (p.Leu1264Ile) c.3850C>A (p.Leu1284Ile) c.3502C>A (p.Leu1168Ile) c.3331C>A (p.Leu1111Ile) c.3217C>A (p.Leu1073Ile) c.2779C>A (p.Leu927Ile) n.4047C>A | |
3 | g.46999970C= | CA1362362951 | NBEAL2 | c.3871C= (p.Leu1291=) c.3769C= (p.Leu1257=) n.208C= c.1960-226C= c.343C= (p.Leu115=) c.3790C= (p.Leu1264=) c.3850C= (p.Leu1284=) c.3502C= (p.Leu1168=) c.3331C= (p.Leu1111=) c.3217C= (p.Leu1073=) c.2779C= (p.Leu927=) n.4047C= | |
3 | g.46999970C>G | CA2361095 | NBEAL2 | c.3871C>G (p.Leu1291Val) c.3769C>G (p.Leu1257Val) n.208C>G c.1960-226C>G c.343C>G (p.Leu115Val) c.3790C>G (p.Leu1264Val) c.3850C>G (p.Leu1284Val) c.3502C>G (p.Leu1168Val) c.3331C>G (p.Leu1111Val) c.3217C>G (p.Leu1073Val) c.2779C>G (p.Leu927Val) n.4047C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.46999970C>T | CA433598139 | NBEAL2 | c.3871C>T (p.Leu1291=) c.3769C>T (p.Leu1257=) n.208C>T c.1960-226C>T c.343C>T (p.Leu115=) c.3790C>T (p.Leu1264=) c.3850C>T (p.Leu1284=) c.3502C>T (p.Leu1168=) c.3331C>T (p.Leu1111=) c.3217C>T (p.Leu1073=) c.2779C>T (p.Leu927=) n.4047C>T | |
3 | g.46999971T>A | CA352516261 | NBEAL2 | c.3872T>A (p.Leu1291Gln) c.3770T>A (p.Leu1257Gln) n.209T>A c.1960-225T>A c.344T>A (p.Leu115Gln) c.3791T>A (p.Leu1264Gln) c.3851T>A (p.Leu1284Gln) c.3503T>A (p.Leu1168Gln) c.3332T>A (p.Leu1111Gln) c.3218T>A (p.Leu1073Gln) c.2780T>A (p.Leu927Gln) n.4048T>A | |
3 | g.46999971T>C | CA352516262 | NBEAL2 | c.3872T>C (p.Leu1291Pro) c.3770T>C (p.Leu1257Pro) n.209T>C c.1960-225T>C c.344T>C (p.Leu115Pro) c.3791T>C (p.Leu1264Pro) c.3851T>C (p.Leu1284Pro) c.3503T>C (p.Leu1168Pro) c.3332T>C (p.Leu1111Pro) c.3218T>C (p.Leu1073Pro) c.2780T>C (p.Leu927Pro) n.4048T>C | gnomAD v4 |
3 | g.46999971T>G | CA352516263 | NBEAL2 | c.3872T>G (p.Leu1291Arg) c.3770T>G (p.Leu1257Arg) n.209T>G c.1960-225T>G c.344T>G (p.Leu115Arg) c.3791T>G (p.Leu1264Arg) c.3851T>G (p.Leu1284Arg) c.3503T>G (p.Leu1168Arg) c.3332T>G (p.Leu1111Arg) c.3218T>G (p.Leu1073Arg) c.2780T>G (p.Leu927Arg) n.4048T>G | |
3 | g.46999972A= | CA1362362952 | NBEAL2 | c.3873A= (p.Leu1291=) c.3771A= (p.Leu1257=) n.210A= c.1960-224A= c.345A= (p.Leu115=) c.3792A= (p.Leu1264=) c.3852A= (p.Leu1284=) c.3504A= (p.Leu1168=) c.3333A= (p.Leu1111=) c.3219A= (p.Leu1073=) c.2781A= (p.Leu927=) n.4049A= | |
3 | g.46999972A>C | CA433598144 | NBEAL2 | c.3873A>C (p.Leu1291=) c.3771A>C (p.Leu1257=) n.210A>C c.1960-224A>C c.345A>C (p.Leu115=) c.3792A>C (p.Leu1264=) c.3852A>C (p.Leu1284=) c.3504A>C (p.Leu1168=) c.3333A>C (p.Leu1111=) c.3219A>C (p.Leu1073=) c.2781A>C (p.Leu927=) n.4049A>C | |
3 | g.46999972A>G | CA433598145 | NBEAL2 | c.3873A>G (p.Leu1291=) c.3771A>G (p.Leu1257=) n.210A>G c.1960-224A>G c.345A>G (p.Leu115=) c.3792A>G (p.Leu1264=) c.3852A>G (p.Leu1284=) c.3504A>G (p.Leu1168=) c.3333A>G (p.Leu1111=) c.3219A>G (p.Leu1073=) c.2781A>G (p.Leu927=) n.4049A>G | dbSNP gnomAD v2 gnomAD v4 |
3 | g.46999972A>T | CA433598146 | NBEAL2 | c.3873A>T (p.Leu1291=) c.3771A>T (p.Leu1257=) n.210A>T c.1960-224A>T c.345A>T (p.Leu115=) c.3792A>T (p.Leu1264=) c.3852A>T (p.Leu1284=) c.3504A>T (p.Leu1168=) c.3333A>T (p.Leu1111=) c.3219A>T (p.Leu1073=) c.2781A>T (p.Leu927=) n.4049A>T | |
3 | g.46999973T>A | CA352516264 | NBEAL2 | c.3874T>A (p.Tyr1292Asn) c.3772T>A (p.Tyr1258Asn) n.211T>A c.1960-223T>A c.346T>A (p.Tyr116Asn) c.3793T>A (p.Tyr1265Asn) c.3853T>A (p.Tyr1285Asn) c.3505T>A (p.Tyr1169Asn) c.3334T>A (p.Tyr1112Asn) c.3220T>A (p.Tyr1074Asn) c.2782T>A (p.Tyr928Asn) n.4050T>A | |
3 | g.46999973T>C | CA352516265 | NBEAL2 | c.3874T>C (p.Tyr1292His) c.3772T>C (p.Tyr1258His) n.211T>C c.1960-223T>C c.346T>C (p.Tyr116His) c.3793T>C (p.Tyr1265His) c.3853T>C (p.Tyr1285His) c.3505T>C (p.Tyr1169His) c.3334T>C (p.Tyr1112His) c.3220T>C (p.Tyr1074His) c.2782T>C (p.Tyr928His) n.4050T>C | |
3 | g.46999973T>G | CA352516266 | NBEAL2 | c.3874T>G (p.Tyr1292Asp) c.3772T>G (p.Tyr1258Asp) n.211T>G c.1960-223T>G c.346T>G (p.Tyr116Asp) c.3793T>G (p.Tyr1265Asp) c.3853T>G (p.Tyr1285Asp) c.3505T>G (p.Tyr1169Asp) c.3334T>G (p.Tyr1112Asp) c.3220T>G (p.Tyr1074Asp) c.2782T>G (p.Tyr928Asp) n.4050T>G | |
3 | g.46999974A= | CA1362362953 | NBEAL2 | c.3875A= (p.Tyr1292=) c.3773A= (p.Tyr1258=) n.212A= c.1960-222A= c.347A= (p.Tyr116=) c.3794A= (p.Tyr1265=) c.3854A= (p.Tyr1285=) c.3506A= (p.Tyr1169=) c.3335A= (p.Tyr1112=) c.3221A= (p.Tyr1074=) c.2783A= (p.Tyr928=) n.4051A= | |
3 | g.46999974A>C | CA352516267 | NBEAL2 | c.3875A>C (p.Tyr1292Ser) c.3773A>C (p.Tyr1258Ser) n.212A>C c.1960-222A>C c.347A>C (p.Tyr116Ser) c.3794A>C (p.Tyr1265Ser) c.3854A>C (p.Tyr1285Ser) c.3506A>C (p.Tyr1169Ser) c.3335A>C (p.Tyr1112Ser) c.3221A>C (p.Tyr1074Ser) c.2783A>C (p.Tyr928Ser) n.4051A>C | |
3 | g.46999974A>G | CA73817541 | NBEAL2 | c.3875A>G (p.Tyr1292Cys) c.3773A>G (p.Tyr1258Cys) n.212A>G c.1960-222A>G c.347A>G (p.Tyr116Cys) c.3794A>G (p.Tyr1265Cys) c.3854A>G (p.Tyr1285Cys) c.3506A>G (p.Tyr1169Cys) c.3335A>G (p.Tyr1112Cys) c.3221A>G (p.Tyr1074Cys) c.2783A>G (p.Tyr928Cys) n.4051A>G | dbSNP gnomAD v3 gnomAD v4 |
3 | g.46999974A>T | CA352516268 | NBEAL2 | c.3875A>T (p.Tyr1292Phe) c.3773A>T (p.Tyr1258Phe) n.212A>T c.1960-222A>T c.347A>T (p.Tyr116Phe) c.3794A>T (p.Tyr1265Phe) c.3854A>T (p.Tyr1285Phe) c.3506A>T (p.Tyr1169Phe) c.3335A>T (p.Tyr1112Phe) c.3221A>T (p.Tyr1074Phe) c.2783A>T (p.Tyr928Phe) n.4051A>T | |
3 | g.46999975T>A | CA352516269 | NBEAL2 | c.3876T>A (p.Tyr1292Ter) c.3774T>A (p.Tyr1258Ter) n.213T>A c.1960-221T>A c.348T>A (p.Tyr116Ter) c.3795T>A (p.Tyr1265Ter) c.3855T>A (p.Tyr1285Ter) c.3507T>A (p.Tyr1169Ter) c.3336T>A (p.Tyr1112Ter) c.3222T>A (p.Tyr1074Ter) c.2784T>A (p.Tyr928Ter) n.4052T>A | |
3 | g.46999975T>C | CA2361096 | NBEAL2 | c.3876T>C (p.Tyr1292=) c.3774T>C (p.Tyr1258=) n.213T>C c.1960-221T>C c.348T>C (p.Tyr116=) c.3795T>C (p.Tyr1265=) c.3855T>C (p.Tyr1285=) c.3507T>C (p.Tyr1169=) c.3336T>C (p.Tyr1112=) c.3222T>C (p.Tyr1074=) c.2784T>C (p.Tyr928=) n.4052T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.46999975T>G | CA352516270 | NBEAL2 | c.3876T>G (p.Tyr1292Ter) c.3774T>G (p.Tyr1258Ter) n.213T>G c.1960-221T>G c.348T>G (p.Tyr116Ter) c.3795T>G (p.Tyr1265Ter) c.3855T>G (p.Tyr1285Ter) c.3507T>G (p.Tyr1169Ter) c.3336T>G (p.Tyr1112Ter) c.3222T>G (p.Tyr1074Ter) c.2784T>G (p.Tyr928Ter) n.4052T>G | |
3 | g.46999975T= | CA1362362954 | NBEAL2 | c.3876T= (p.Tyr1292=) c.3774T= (p.Tyr1258=) n.213T= c.1960-221T= c.348T= (p.Tyr116=) c.3795T= (p.Tyr1265=) c.3855T= (p.Tyr1285=) c.3507T= (p.Tyr1169=) c.3336T= (p.Tyr1112=) c.3222T= (p.Tyr1074=) c.2784T= (p.Tyr928=) n.4052T= | |
3 | g.46999976G>A | CA352516271 | NBEAL2 | c.3877G>A (p.Val1293Ile) c.3775G>A (p.Val1259Ile) n.214G>A c.1960-220G>A c.349G>A (p.Val117Ile) c.3796G>A (p.Val1266Ile) c.3856G>A (p.Val1286Ile) c.3508G>A (p.Val1170Ile) c.3337G>A (p.Val1113Ile) c.3223G>A (p.Val1075Ile) c.2785G>A (p.Val929Ile) n.4053G>A | |
3 | g.46999976G>C | CA352516272 | NBEAL2 | c.3877G>C (p.Val1293Leu) c.3775G>C (p.Val1259Leu) n.214G>C c.1960-220G>C c.349G>C (p.Val117Leu) c.3796G>C (p.Val1266Leu) c.3856G>C (p.Val1286Leu) c.3508G>C (p.Val1170Leu) c.3337G>C (p.Val1113Leu) c.3223G>C (p.Val1075Leu) c.2785G>C (p.Val929Leu) n.4053G>C | |
3 | g.46999976G>T | CA352516273 | NBEAL2 | c.3877G>T (p.Val1293Phe) c.3775G>T (p.Val1259Phe) n.214G>T c.1960-220G>T c.349G>T (p.Val117Phe) c.3796G>T (p.Val1266Phe) c.3856G>T (p.Val1286Phe) c.3508G>T (p.Val1170Phe) c.3337G>T (p.Val1113Phe) c.3223G>T (p.Val1075Phe) c.2785G>T (p.Val929Phe) n.4053G>T | |
3 | g.46999977T>A | CA352516274 | NBEAL2 | c.3878T>A (p.Val1293Asp) c.3776T>A (p.Val1259Asp) n.215T>A c.1960-219T>A c.350T>A (p.Val117Asp) c.3797T>A (p.Val1266Asp) c.3857T>A (p.Val1286Asp) c.3509T>A (p.Val1170Asp) c.3338T>A (p.Val1113Asp) c.3224T>A (p.Val1075Asp) c.2786T>A (p.Val929Asp) n.4054T>A | |
3 | g.46999977T>C | CA352516275 | NBEAL2 | c.3878T>C (p.Val1293Ala) c.3776T>C (p.Val1259Ala) n.215T>C c.1960-219T>C c.350T>C (p.Val117Ala) c.3797T>C (p.Val1266Ala) c.3857T>C (p.Val1286Ala) c.3509T>C (p.Val1170Ala) c.3338T>C (p.Val1113Ala) c.3224T>C (p.Val1075Ala) c.2786T>C (p.Val929Ala) n.4054T>C | |
3 | g.46999977T>G | CA352516276 | NBEAL2 | c.3878T>G (p.Val1293Gly) c.3776T>G (p.Val1259Gly) n.215T>G c.1960-219T>G c.350T>G (p.Val117Gly) c.3797T>G (p.Val1266Gly) c.3857T>G (p.Val1286Gly) c.3509T>G (p.Val1170Gly) c.3338T>G (p.Val1113Gly) c.3224T>G (p.Val1075Gly) c.2786T>G (p.Val929Gly) n.4054T>G | |
3 | g.46999978C>A | CA433598153 | NBEAL2 | c.3879C>A (p.Val1293=) c.3777C>A (p.Val1259=) n.216C>A c.1960-218C>A c.351C>A (p.Val117=) c.3798C>A (p.Val1266=) c.3858C>A (p.Val1286=) c.3510C>A (p.Val1170=) c.3339C>A (p.Val1113=) c.3225C>A (p.Val1075=) c.2787C>A (p.Val929=) n.4055C>A | |
3 | g.46999978C= | CA1362362955 | NBEAL2 | c.3879C= (p.Val1293=) c.3777C= (p.Val1259=) n.216C= c.1960-218C= c.351C= (p.Val117=) c.3798C= (p.Val1266=) c.3858C= (p.Val1286=) c.3510C= (p.Val1170=) c.3339C= (p.Val1113=) c.3225C= (p.Val1075=) c.2787C= (p.Val929=) n.4055C= | |
3 | g.46999978C>G | CA433598154 | NBEAL2 | c.3879C>G (p.Val1293=) c.3777C>G (p.Val1259=) n.216C>G c.1960-218C>G c.351C>G (p.Val117=) c.3798C>G (p.Val1266=) c.3858C>G (p.Val1286=) c.3510C>G (p.Val1170=) c.3339C>G (p.Val1113=) c.3225C>G (p.Val1075=) c.2787C>G (p.Val929=) n.4055C>G | |
3 | g.46999978C>T | CA2361097 | NBEAL2 | c.3879C>T (p.Val1293=) c.3777C>T (p.Val1259=) n.216C>T c.1960-218C>T c.351C>T (p.Val117=) c.3798C>T (p.Val1266=) c.3858C>T (p.Val1286=) c.3510C>T (p.Val1170=) c.3339C>T (p.Val1113=) c.3225C>T (p.Val1075=) c.2787C>T (p.Val929=) n.4055C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.46999979C>A | CA352516278 | NBEAL2 | c.3880C>A (p.Leu1294Met) c.3778C>A (p.Leu1260Met) n.217C>A c.1960-217C>A c.352C>A (p.Leu118Met) c.3799C>A (p.Leu1267Met) c.3859C>A (p.Leu1287Met) c.3511C>A (p.Leu1171Met) c.3340C>A (p.Leu1114Met) c.3226C>A (p.Leu1076Met) c.2788C>A (p.Leu930Met) n.4056C>A | |
3 | g.46999979C= | CA1362362956 | NBEAL2 | c.3880C= (p.Leu1294=) c.3778C= (p.Leu1260=) n.217C= c.1960-217C= c.352C= (p.Leu118=) c.3799C= (p.Leu1267=) c.3859C= (p.Leu1287=) c.3511C= (p.Leu1171=) c.3340C= (p.Leu1114=) c.3226C= (p.Leu1076=) c.2788C= (p.Leu930=) n.4056C= | |
3 | g.46999979C>G | CA352516277 | NBEAL2 | c.3880C>G (p.Leu1294Val) c.3778C>G (p.Leu1260Val) n.217C>G c.1960-217C>G c.352C>G (p.Leu118Val) c.3799C>G (p.Leu1267Val) c.3859C>G (p.Leu1287Val) c.3511C>G (p.Leu1171Val) c.3340C>G (p.Leu1114Val) c.3226C>G (p.Leu1076Val) c.2788C>G (p.Leu930Val) n.4056C>G | |
3 | g.46999979C>T | CA73817558 | NBEAL2 | c.3880C>T (p.Leu1294=) c.3778C>T (p.Leu1260=) n.217C>T c.1960-217C>T c.352C>T (p.Leu118=) c.3799C>T (p.Leu1267=) c.3859C>T (p.Leu1287=) c.3511C>T (p.Leu1171=) c.3340C>T (p.Leu1114=) c.3226C>T (p.Leu1076=) c.2788C>T (p.Leu930=) n.4056C>T | dbSNP gnomAD v3 gnomAD v4 |
3 | g.46999980T>A | CA352516279 | NBEAL2 | c.3881T>A (p.Leu1294Gln) c.3779T>A (p.Leu1260Gln) n.218T>A c.1960-216T>A c.353T>A (p.Leu118Gln) c.3800T>A (p.Leu1267Gln) c.3860T>A (p.Leu1287Gln) c.3512T>A (p.Leu1171Gln) c.3341T>A (p.Leu1114Gln) c.3227T>A (p.Leu1076Gln) c.2789T>A (p.Leu930Gln) n.4057T>A | |
3 | g.46999980T>C | CA352516280 | NBEAL2 | c.3881T>C (p.Leu1294Pro) c.3779T>C (p.Leu1260Pro) n.218T>C c.1960-216T>C c.353T>C (p.Leu118Pro) c.3800T>C (p.Leu1267Pro) c.3860T>C (p.Leu1287Pro) c.3512T>C (p.Leu1171Pro) c.3341T>C (p.Leu1114Pro) c.3227T>C (p.Leu1076Pro) c.2789T>C (p.Leu930Pro) n.4057T>C | gnomAD v4 |
3 | g.46999980T>G | CA352516281 | NBEAL2 | c.3881T>G (p.Leu1294Arg) c.3779T>G (p.Leu1260Arg) n.218T>G c.1960-216T>G c.353T>G (p.Leu118Arg) c.3800T>G (p.Leu1267Arg) c.3860T>G (p.Leu1287Arg) c.3512T>G (p.Leu1171Arg) c.3341T>G (p.Leu1114Arg) c.3227T>G (p.Leu1076Arg) c.2789T>G (p.Leu930Arg) n.4057T>G |