Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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.47000241C>A | CA352516990 | NBEAL2 | c.4142C>A (p.Thr1381Asn) c.4040C>A (p.Thr1347Asn) n.479C>A c.2005C>A c.614C>A (p.Thr205Asn) c.4061C>A (p.Thr1354Asn) c.4121C>A (p.Thr1374Asn) c.3773C>A (p.Thr1258Asn) c.3602C>A (p.Thr1201Asn) c.3488C>A (p.Thr1163Asn) c.3050C>A (p.Thr1017Asn) n.4318C>A | gnomAD v4 |
3 | g.47000241C>G | CA352516991 | NBEAL2 | c.4142C>G (p.Thr1381Ser) c.4040C>G (p.Thr1347Ser) n.479C>G c.2005C>G c.614C>G (p.Thr205Ser) c.4061C>G (p.Thr1354Ser) c.4121C>G (p.Thr1374Ser) c.3773C>G (p.Thr1258Ser) c.3602C>G (p.Thr1201Ser) c.3488C>G (p.Thr1163Ser) c.3050C>G (p.Thr1017Ser) n.4318C>G | gnomAD v4 |
3 | g.47000241C>T | CA352516992 | NBEAL2 | c.4142C>T (p.Thr1381Ile) c.4040C>T (p.Thr1347Ile) n.479C>T c.2005C>T c.614C>T (p.Thr205Ile) c.4061C>T (p.Thr1354Ile) c.4121C>T (p.Thr1374Ile) c.3773C>T (p.Thr1258Ile) c.3602C>T (p.Thr1201Ile) c.3488C>T (p.Thr1163Ile) c.3050C>T (p.Thr1017Ile) n.4318C>T | gnomAD v4 |
3 | g.47000242T>A | CA433598288 | NBEAL2 | c.4143T>A (p.Thr1381=) c.4041T>A (p.Thr1347=) n.480T>A c.2006T>A c.615T>A (p.Thr205=) c.4062T>A (p.Thr1354=) c.4122T>A (p.Thr1374=) c.3774T>A (p.Thr1258=) c.3603T>A (p.Thr1201=) c.3489T>A (p.Thr1163=) c.3051T>A (p.Thr1017=) n.4319T>A | |
3 | g.47000242T>C | CA433598291 | NBEAL2 | c.4143T>C (p.Thr1381=) c.4041T>C (p.Thr1347=) n.480T>C c.2006T>C c.615T>C (p.Thr205=) c.4062T>C (p.Thr1354=) c.4122T>C (p.Thr1374=) c.3774T>C (p.Thr1258=) c.3603T>C (p.Thr1201=) c.3489T>C (p.Thr1163=) c.3051T>C (p.Thr1017=) n.4319T>C | |
3 | g.47000242T>G | CA433598290 | NBEAL2 | c.4143T>G (p.Thr1381=) c.4041T>G (p.Thr1347=) n.480T>G c.2006T>G c.615T>G (p.Thr205=) c.4062T>G (p.Thr1354=) c.4122T>G (p.Thr1374=) c.3774T>G (p.Thr1258=) c.3603T>G (p.Thr1201=) c.3489T>G (p.Thr1163=) c.3051T>G (p.Thr1017=) n.4319T>G | dbSNP gnomAD v2 |
3 | g.47000242T= | CA1362363086 | NBEAL2 | c.4143T= (p.Thr1381=) c.4041T= (p.Thr1347=) n.480T= c.2006T= c.615T= (p.Thr205=) c.4062T= (p.Thr1354=) c.4122T= (p.Thr1374=) c.3774T= (p.Thr1258=) c.3603T= (p.Thr1201=) c.3489T= (p.Thr1163=) c.3051T= (p.Thr1017=) n.4319T= | |
3 | g.47000243C>A | CA352516993 | NBEAL2 | c.4144C>A (p.Pro1382Thr) c.4042C>A (p.Pro1348Thr) n.481C>A c.2007C>A c.616C>A (p.Pro206Thr) c.4063C>A (p.Pro1355Thr) c.4123C>A (p.Pro1375Thr) c.3775C>A (p.Pro1259Thr) c.3604C>A (p.Pro1202Thr) c.3490C>A (p.Pro1164Thr) c.3052C>A (p.Pro1018Thr) n.4320C>A | |
3 | g.47000243C>G | CA352516994 | NBEAL2 | c.4144C>G (p.Pro1382Ala) c.4042C>G (p.Pro1348Ala) n.481C>G c.2007C>G c.616C>G (p.Pro206Ala) c.4063C>G (p.Pro1355Ala) c.4123C>G (p.Pro1375Ala) c.3775C>G (p.Pro1259Ala) c.3604C>G (p.Pro1202Ala) c.3490C>G (p.Pro1164Ala) c.3052C>G (p.Pro1018Ala) n.4320C>G | |
3 | g.47000243C>T | CA352516995 | NBEAL2 | c.4144C>T (p.Pro1382Ser) c.4042C>T (p.Pro1348Ser) n.481C>T c.2007C>T c.616C>T (p.Pro206Ser) c.4063C>T (p.Pro1355Ser) c.4123C>T (p.Pro1375Ser) c.3775C>T (p.Pro1259Ser) c.3604C>T (p.Pro1202Ser) c.3490C>T (p.Pro1164Ser) c.3052C>T (p.Pro1018Ser) n.4320C>T | COSMIC COSMIC |
3 | g.47000244C>A | CA352516998 | NBEAL2 | c.4145C>A (p.Pro1382Gln) c.4043C>A (p.Pro1348Gln) n.482C>A c.2008C>A c.617C>A (p.Pro206Gln) c.4064C>A (p.Pro1355Gln) c.4124C>A (p.Pro1375Gln) c.3776C>A (p.Pro1259Gln) c.3605C>A (p.Pro1202Gln) c.3491C>A (p.Pro1164Gln) c.3053C>A (p.Pro1018Gln) n.4321C>A | |
3 | g.47000244C= | CA1362363087 | NBEAL2 | c.4145C= (p.Pro1382=) c.4043C= (p.Pro1348=) n.482C= c.2008C= c.617C= (p.Pro206=) c.4064C= (p.Pro1355=) c.4124C= (p.Pro1375=) c.3776C= (p.Pro1259=) c.3605C= (p.Pro1202=) c.3491C= (p.Pro1164=) c.3053C= (p.Pro1018=) n.4321C= | |
3 | g.47000244C>G | CA352516996 | NBEAL2 | c.4145C>G (p.Pro1382Arg) c.4043C>G (p.Pro1348Arg) n.482C>G c.2008C>G c.617C>G (p.Pro206Arg) c.4064C>G (p.Pro1355Arg) c.4124C>G (p.Pro1375Arg) c.3776C>G (p.Pro1259Arg) c.3605C>G (p.Pro1202Arg) c.3491C>G (p.Pro1164Arg) c.3053C>G (p.Pro1018Arg) n.4321C>G | |
3 | g.47000244C>T | CA352516997 | NBEAL2 | c.4145C>T (p.Pro1382Leu) c.4043C>T (p.Pro1348Leu) n.482C>T c.2008C>T c.617C>T (p.Pro206Leu) c.4064C>T (p.Pro1355Leu) c.4124C>T (p.Pro1375Leu) c.3776C>T (p.Pro1259Leu) c.3605C>T (p.Pro1202Leu) c.3491C>T (p.Pro1164Leu) c.3053C>T (p.Pro1018Leu) n.4321C>T | dbSNP gnomAD v2 gnomAD v4 |
3 | g.47000245A>C | CA433598292 | NBEAL2 | c.4146A>C (p.Pro1382=) c.4044A>C (p.Pro1348=) c.2009A>C c.618A>C (p.Pro206=) c.4065A>C (p.Pro1355=) c.4125A>C (p.Pro1375=) c.3777A>C (p.Pro1259=) c.3606A>C (p.Pro1202=) c.3492A>C (p.Pro1164=) c.3054A>C (p.Pro1018=) n.4322A>C | |
3 | g.47000245A>G | CA433598293 | NBEAL2 | c.4146A>G (p.Pro1382=) c.4044A>G (p.Pro1348=) c.2009A>G c.618A>G (p.Pro206=) c.4065A>G (p.Pro1355=) c.4125A>G (p.Pro1375=) c.3777A>G (p.Pro1259=) c.3606A>G (p.Pro1202=) c.3492A>G (p.Pro1164=) c.3054A>G (p.Pro1018=) n.4322A>G | |
3 | g.47000245A>T | CA433598294 | NBEAL2 | c.4146A>T (p.Pro1382=) c.4044A>T (p.Pro1348=) c.2009A>T c.618A>T (p.Pro206=) c.4065A>T (p.Pro1355=) c.4125A>T (p.Pro1375=) c.3777A>T (p.Pro1259=) c.3606A>T (p.Pro1202=) c.3492A>T (p.Pro1164=) c.3054A>T (p.Pro1018=) n.4322A>T | |
3 | g.47000246G>A | CA352516999 | NBEAL2 | c.4147G>A (p.Ala1383Thr) c.4045G>A (p.Ala1349Thr) c.2010G>A c.619G>A (p.Ala207Thr) c.4066G>A (p.Ala1356Thr) c.4126G>A (p.Ala1376Thr) c.3778G>A (p.Ala1260Thr) c.3607G>A (p.Ala1203Thr) c.3493G>A (p.Ala1165Thr) c.3055G>A (p.Ala1019Thr) n.4323G>A | |
3 | g.47000246G>C | CA352517000 | NBEAL2 | c.4147G>C (p.Ala1383Pro) c.4045G>C (p.Ala1349Pro) c.2010G>C c.619G>C (p.Ala207Pro) c.4066G>C (p.Ala1356Pro) c.4126G>C (p.Ala1376Pro) c.3778G>C (p.Ala1260Pro) c.3607G>C (p.Ala1203Pro) c.3493G>C (p.Ala1165Pro) c.3055G>C (p.Ala1019Pro) n.4323G>C | |
3 | g.47000246G>T | CA352517001 | NBEAL2 | c.4147G>T (p.Ala1383Ser) c.4045G>T (p.Ala1349Ser) c.2010G>T c.619G>T (p.Ala207Ser) c.4066G>T (p.Ala1356Ser) c.4126G>T (p.Ala1376Ser) c.3778G>T (p.Ala1260Ser) c.3607G>T (p.Ala1203Ser) c.3493G>T (p.Ala1165Ser) c.3055G>T (p.Ala1019Ser) n.4323G>T | |
3 | g.47000247C>A | CA352517002 | NBEAL2 | c.4148C>A (p.Ala1383Asp) c.4046C>A (p.Ala1349Asp) c.2011C>A c.620C>A (p.Ala207Asp) c.4067C>A (p.Ala1356Asp) c.4127C>A (p.Ala1376Asp) c.3779C>A (p.Ala1260Asp) c.3608C>A (p.Ala1203Asp) c.3494C>A (p.Ala1165Asp) c.3056C>A (p.Ala1019Asp) n.4324C>A | |
3 | g.47000247C>G | CA352517003 | NBEAL2 | c.4148C>G (p.Ala1383Gly) c.4046C>G (p.Ala1349Gly) c.2011C>G c.620C>G (p.Ala207Gly) c.4067C>G (p.Ala1356Gly) c.4127C>G (p.Ala1376Gly) c.3779C>G (p.Ala1260Gly) c.3608C>G (p.Ala1203Gly) c.3494C>G (p.Ala1165Gly) c.3056C>G (p.Ala1019Gly) n.4324C>G | |
3 | g.47000247C>T | CA352517004 | NBEAL2 | c.4148C>T (p.Ala1383Val) c.4046C>T (p.Ala1349Val) c.2011C>T c.620C>T (p.Ala207Val) c.4067C>T (p.Ala1356Val) c.4127C>T (p.Ala1376Val) c.3779C>T (p.Ala1260Val) c.3608C>T (p.Ala1203Val) c.3494C>T (p.Ala1165Val) c.3056C>T (p.Ala1019Val) n.4324C>T | |
3 | g.47000247_47000248insA | CA2665493247 | NBEAL2 | c.4148_4149insA (p.Ser1384GlnfsTer?) c.4046_4047insA (p.Ser1350GlnfsTer?) c.2011_2012insA c.620_621insA (p.Ser208GlnfsTer?) c.4067_4068insA (p.Ser1357GlnfsTer?) c.4127_4128insA (p.Ser1377GlnfsTer?) c.3779_3780insA (p.Ser1261GlnfsTer?) c.3608_3609insA (p.Ser1204GlnfsTer?) c.3494_3495insA (p.Ser1166GlnfsTer?) c.3056_3057insA (p.Ser1020GlnfsTer?) n.4324_4325insA | gnomAD v4 |
3 | g.47000248C>A | CA433598295 | NBEAL2 | c.4149C>A (p.Ala1383=) c.4047C>A (p.Ala1349=) c.2012C>A c.621C>A (p.Ala207=) c.4068C>A (p.Ala1356=) c.4128C>A (p.Ala1376=) c.3780C>A (p.Ala1260=) c.3609C>A (p.Ala1203=) c.3495C>A (p.Ala1165=) c.3057C>A (p.Ala1019=) n.4325C>A | |
3 | g.47000248C>G | CA433598296 | NBEAL2 | c.4149C>G (p.Ala1383=) c.4047C>G (p.Ala1349=) c.2012C>G c.621C>G (p.Ala207=) c.4068C>G (p.Ala1356=) c.4128C>G (p.Ala1376=) c.3780C>G (p.Ala1260=) c.3609C>G (p.Ala1203=) c.3495C>G (p.Ala1165=) c.3057C>G (p.Ala1019=) n.4325C>G | |
3 | g.47000248C>T | CA433598297 | NBEAL2 | c.4149C>T (p.Ala1383=) c.4047C>T (p.Ala1349=) c.2012C>T c.621C>T (p.Ala207=) c.4068C>T (p.Ala1356=) c.4128C>T (p.Ala1376=) c.3780C>T (p.Ala1260=) c.3609C>T (p.Ala1203=) c.3495C>T (p.Ala1165=) c.3057C>T (p.Ala1019=) n.4325C>T | |
3 | g.47000249A>C | CA352517005 | NBEAL2 | c.4150A>C (p.Ser1384Arg) c.4048A>C (p.Ser1350Arg) c.2013A>C c.622A>C (p.Ser208Arg) c.4069A>C (p.Ser1357Arg) c.4129A>C (p.Ser1377Arg) c.3781A>C (p.Ser1261Arg) c.3610A>C (p.Ser1204Arg) c.3496A>C (p.Ser1166Arg) c.3058A>C (p.Ser1020Arg) n.4326A>C | |
3 | g.47000249A>G | CA352517006 | NBEAL2 | c.4150A>G (p.Ser1384Gly) c.4048A>G (p.Ser1350Gly) c.2013A>G c.622A>G (p.Ser208Gly) c.4069A>G (p.Ser1357Gly) c.4129A>G (p.Ser1377Gly) c.3781A>G (p.Ser1261Gly) c.3610A>G (p.Ser1204Gly) c.3496A>G (p.Ser1166Gly) c.3058A>G (p.Ser1020Gly) n.4326A>G | |
3 | g.47000249A>T | CA352517007 | NBEAL2 | c.4150A>T (p.Ser1384Cys) c.4048A>T (p.Ser1350Cys) c.2013A>T c.622A>T (p.Ser208Cys) c.4069A>T (p.Ser1357Cys) c.4129A>T (p.Ser1377Cys) c.3781A>T (p.Ser1261Cys) c.3610A>T (p.Ser1204Cys) c.3496A>T (p.Ser1166Cys) c.3058A>T (p.Ser1020Cys) n.4326A>T | |
3 | g.47000250G>A | CA352517008 | NBEAL2 | c.4151G>A (p.Ser1384Asn) c.4049G>A (p.Ser1350Asn) c.2014G>A c.623G>A (p.Ser208Asn) c.4070G>A (p.Ser1357Asn) c.4130G>A (p.Ser1377Asn) c.3782G>A (p.Ser1261Asn) c.3611G>A (p.Ser1204Asn) c.3497G>A (p.Ser1166Asn) c.3059G>A (p.Ser1020Asn) n.4327G>A | |
3 | g.47000250G>C | CA352517009 | NBEAL2 | c.4151G>C (p.Ser1384Thr) c.4049G>C (p.Ser1350Thr) c.2014G>C c.623G>C (p.Ser208Thr) c.4070G>C (p.Ser1357Thr) c.4130G>C (p.Ser1377Thr) c.3782G>C (p.Ser1261Thr) c.3611G>C (p.Ser1204Thr) c.3497G>C (p.Ser1166Thr) c.3059G>C (p.Ser1020Thr) n.4327G>C | |
3 | g.47000250G>T | CA352517010 | NBEAL2 | c.4151G>T (p.Ser1384Ile) c.4049G>T (p.Ser1350Ile) c.2014G>T c.623G>T (p.Ser208Ile) c.4070G>T (p.Ser1357Ile) c.4130G>T (p.Ser1377Ile) c.3782G>T (p.Ser1261Ile) c.3611G>T (p.Ser1204Ile) c.3497G>T (p.Ser1166Ile) c.3059G>T (p.Ser1020Ile) n.4327G>T | |
3 | g.47000250_47000251insATCCTGCGCAGACTGCAGCAGAATGAGCGGCTACCTGAGCGGAGCCG | CA2665493248 | NBEAL2 | c.4151_4152insATCCTGCGCAGACTGCAGCAGAATGAGCGGCTACCTGAGCGGAGCCG (p.Ser1384ArgfsTer?) c.4049_4050insATCCTGCGCAGACTGCAGCAGAATGAGCGGCTACCTGAGCGGAGCCG (p.Ser1350ArgfsTer?) c.2014_2015insATCCTGCGCAGACTGCAGCAGAATGAGCGGCTACCTGAGCGGAGCCG c.623_624insATCCTGCGCAGACTGCAGCAGAATGAGCGGCTACCTGAGCGGAGCCG (p.Ser208ArgfsTer?) c.4070_4071insATCCTGCGCAGACTGCAGCAGAATGAGCGGCTACCTGAGCGGAGCCG (p.Ser1357ArgfsTer?) c.4130_4131insATCCTGCGCAGACTGCAGCAGAATGAGCGGCTACCTGAGCGGAGCCG (p.Ser1377ArgfsTer?) c.3782_3783insATCCTGCGCAGACTGCAGCAGAATGAGCGGCTACCTGAGCGGAGCCG (p.Ser1261ArgfsTer?) c.3611_3612insATCCTGCGCAGACTGCAGCAGAATGAGCGGCTACCTGAGCGGAGCCG (p.Ser1204ArgfsTer?) c.3497_3498insATCCTGCGCAGACTGCAGCAGAATGAGCGGCTACCTGAGCGGAGCCG (p.Ser1166ArgfsTer?) c.3059_3060insATCCTGCGCAGACTGCAGCAGAATGAGCGGCTACCTGAGCGGAGCCG (p.Ser1020ArgfsTer?) n.4327_4328insATCCTGCGCAGACTGCAGCAGAATGAGCGGCTACCTGAGCGGAGCCG | gnomAD v4 |
3 | g.47000251C>A | CA352517011 | NBEAL2 | c.4152C>A (p.Ser1384Arg) c.4050C>A (p.Ser1350Arg) c.2015C>A c.624C>A (p.Ser208Arg) c.4071C>A (p.Ser1357Arg) c.4131C>A (p.Ser1377Arg) c.3783C>A (p.Ser1261Arg) c.3612C>A (p.Ser1204Arg) c.3498C>A (p.Ser1166Arg) c.3060C>A (p.Ser1020Arg) n.4328C>A | |
3 | g.47000251C>G | CA352517012 | NBEAL2 | c.4152C>G (p.Ser1384Arg) c.4050C>G (p.Ser1350Arg) c.2015C>G c.624C>G (p.Ser208Arg) c.4071C>G (p.Ser1357Arg) c.4131C>G (p.Ser1377Arg) c.3783C>G (p.Ser1261Arg) c.3612C>G (p.Ser1204Arg) c.3498C>G (p.Ser1166Arg) c.3060C>G (p.Ser1020Arg) n.4328C>G | |
3 | g.47000251C>T | CA433598298 | NBEAL2 | c.4152C>T (p.Ser1384=) c.4050C>T (p.Ser1350=) c.2015C>T c.624C>T (p.Ser208=) c.4071C>T (p.Ser1357=) c.4131C>T (p.Ser1377=) c.3783C>T (p.Ser1261=) c.3612C>T (p.Ser1204=) c.3498C>T (p.Ser1166=) c.3060C>T (p.Ser1020=) n.4328C>T | |
3 | g.47000252C>A | CA352517013 | NBEAL2 | c.4153C>A (p.Gln1385Lys) c.4051C>A (p.Gln1351Lys) c.2016C>A c.625C>A (p.Gln209Lys) c.4072C>A (p.Gln1358Lys) c.4132C>A (p.Gln1378Lys) c.3784C>A (p.Gln1262Lys) c.3613C>A (p.Gln1205Lys) c.3499C>A (p.Gln1167Lys) c.3061C>A (p.Gln1021Lys) n.4329C>A | |
3 | g.47000252C>G | CA352517015 | NBEAL2 | c.4153C>G (p.Gln1385Glu) c.4051C>G (p.Gln1351Glu) c.2016C>G c.625C>G (p.Gln209Glu) c.4072C>G (p.Gln1358Glu) c.4132C>G (p.Gln1378Glu) c.3784C>G (p.Gln1262Glu) c.3613C>G (p.Gln1205Glu) c.3499C>G (p.Gln1167Glu) c.3061C>G (p.Gln1021Glu) n.4329C>G | |
3 | g.47000252C>T | CA352517014 | NBEAL2 | c.4153C>T (p.Gln1385Ter) c.4051C>T (p.Gln1351Ter) c.2016C>T c.625C>T (p.Gln209Ter) c.4072C>T (p.Gln1358Ter) c.4132C>T (p.Gln1378Ter) c.3784C>T (p.Gln1262Ter) c.3613C>T (p.Gln1205Ter) c.3499C>T (p.Gln1167Ter) c.3061C>T (p.Gln1021Ter) n.4329C>T | gnomAD v4 |
3 | g.47000253A>C | CA352517016 | NBEAL2 | c.4154A>C (p.Gln1385Pro) c.4052A>C (p.Gln1351Pro) c.2017A>C c.626A>C (p.Gln209Pro) c.4073A>C (p.Gln1358Pro) c.4133A>C (p.Gln1378Pro) c.3785A>C (p.Gln1262Pro) c.3614A>C (p.Gln1205Pro) c.3500A>C (p.Gln1167Pro) c.3062A>C (p.Gln1021Pro) n.4330A>C | |
3 | g.47000253A>G | CA352517017 | NBEAL2 | c.4154A>G (p.Gln1385Arg) c.4052A>G (p.Gln1351Arg) c.2017A>G c.626A>G (p.Gln209Arg) c.4073A>G (p.Gln1358Arg) c.4133A>G (p.Gln1378Arg) c.3785A>G (p.Gln1262Arg) c.3614A>G (p.Gln1205Arg) c.3500A>G (p.Gln1167Arg) c.3062A>G (p.Gln1021Arg) n.4330A>G | |
3 | g.47000253A>T | CA352517018 | NBEAL2 | c.4154A>T (p.Gln1385Leu) c.4052A>T (p.Gln1351Leu) c.2017A>T c.626A>T (p.Gln209Leu) c.4073A>T (p.Gln1358Leu) c.4133A>T (p.Gln1378Leu) c.3785A>T (p.Gln1262Leu) c.3614A>T (p.Gln1205Leu) c.3500A>T (p.Gln1167Leu) c.3062A>T (p.Gln1021Leu) n.4330A>T | |
3 | g.47000254G>A | CA433598299 | NBEAL2 | c.4155G>A (p.Gln1385=) c.4053G>A (p.Gln1351=) c.2018G>A c.627G>A (p.Gln209=) c.4074G>A (p.Gln1358=) c.4134G>A (p.Gln1378=) c.3786G>A (p.Gln1262=) c.3615G>A (p.Gln1205=) c.3501G>A (p.Gln1167=) c.3063G>A (p.Gln1021=) n.4331G>A | |
3 | g.47000254G>C | CA352517019 | NBEAL2 | c.4155G>C (p.Gln1385His) c.4053G>C (p.Gln1351His) c.2018G>C c.627G>C (p.Gln209His) c.4074G>C (p.Gln1358His) c.4134G>C (p.Gln1378His) c.3786G>C (p.Gln1262His) c.3615G>C (p.Gln1205His) c.3501G>C (p.Gln1167His) c.3063G>C (p.Gln1021His) n.4331G>C | |
3 | g.47000254G>T | CA352517020 | NBEAL2 | c.4155G>T (p.Gln1385His) c.4053G>T (p.Gln1351His) c.2018G>T c.627G>T (p.Gln209His) c.4074G>T (p.Gln1358His) c.4134G>T (p.Gln1378His) c.3786G>T (p.Gln1262His) c.3615G>T (p.Gln1205His) c.3501G>T (p.Gln1167His) c.3063G>T (p.Gln1021His) n.4331G>T | |
3 | g.47000255C>A | CA352517021 | NBEAL2 | c.4156C>A (p.Pro1386Thr) c.4054C>A (p.Pro1352Thr) c.2019C>A c.628C>A (p.Pro210Thr) c.4075C>A (p.Pro1359Thr) c.4135C>A (p.Pro1379Thr) c.3787C>A (p.Pro1263Thr) c.3616C>A (p.Pro1206Thr) c.3502C>A (p.Pro1168Thr) c.3064C>A (p.Pro1022Thr) n.4332C>A | |
3 | g.47000255C= | CA1362363088 | NBEAL2 | c.4156C= (p.Pro1386=) c.4054C= (p.Pro1352=) c.2019C= c.628C= (p.Pro210=) c.4075C= (p.Pro1359=) c.4135C= (p.Pro1379=) c.3787C= (p.Pro1263=) c.3616C= (p.Pro1206=) c.3502C= (p.Pro1168=) c.3064C= (p.Pro1022=) n.4332C= | |
3 | g.47000255C>G | CA352517022 | NBEAL2 | c.4156C>G (p.Pro1386Ala) c.4054C>G (p.Pro1352Ala) c.2019C>G c.628C>G (p.Pro210Ala) c.4075C>G (p.Pro1359Ala) c.4135C>G (p.Pro1379Ala) c.3787C>G (p.Pro1263Ala) c.3616C>G (p.Pro1206Ala) c.3502C>G (p.Pro1168Ala) c.3064C>G (p.Pro1022Ala) n.4332C>G | |
3 | g.47000255C>T | CA2361153 | NBEAL2 | c.4156C>T (p.Pro1386Ser) c.4054C>T (p.Pro1352Ser) c.2019C>T c.628C>T (p.Pro210Ser) c.4075C>T (p.Pro1359Ser) c.4135C>T (p.Pro1379Ser) c.3787C>T (p.Pro1263Ser) c.3616C>T (p.Pro1206Ser) c.3502C>T (p.Pro1168Ser) c.3064C>T (p.Pro1022Ser) n.4332C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.47000256C>A | CA352517023 | NBEAL2 | c.4157C>A (p.Pro1386His) c.4055C>A (p.Pro1352His) c.2020C>A c.629C>A (p.Pro210His) c.4076C>A (p.Pro1359His) c.4136C>A (p.Pro1379His) c.3788C>A (p.Pro1263His) c.3617C>A (p.Pro1206His) c.3503C>A (p.Pro1168His) c.3065C>A (p.Pro1022His) n.4333C>A | |
3 | g.47000256C= | CA1362363089 | NBEAL2 | c.4157C= (p.Pro1386=) c.4055C= (p.Pro1352=) c.2020C= c.629C= (p.Pro210=) c.4076C= (p.Pro1359=) c.4136C= (p.Pro1379=) c.3788C= (p.Pro1263=) c.3617C= (p.Pro1206=) c.3503C= (p.Pro1168=) c.3065C= (p.Pro1022=) n.4333C= | |
3 | g.47000256C>G | CA352517024 | NBEAL2 | c.4157C>G (p.Pro1386Arg) c.4055C>G (p.Pro1352Arg) c.2020C>G c.629C>G (p.Pro210Arg) c.4076C>G (p.Pro1359Arg) c.4136C>G (p.Pro1379Arg) c.3788C>G (p.Pro1263Arg) c.3617C>G (p.Pro1206Arg) c.3503C>G (p.Pro1168Arg) c.3065C>G (p.Pro1022Arg) n.4333C>G | |
3 | g.47000256C>T | CA352517025 | NBEAL2 | c.4157C>T (p.Pro1386Leu) c.4055C>T (p.Pro1352Leu) c.2020C>T c.629C>T (p.Pro210Leu) c.4076C>T (p.Pro1359Leu) c.4136C>T (p.Pro1379Leu) c.3788C>T (p.Pro1263Leu) c.3617C>T (p.Pro1206Leu) c.3503C>T (p.Pro1168Leu) c.3065C>T (p.Pro1022Leu) n.4333C>T | dbSNP |
3 | g.47000257C>A | CA2361155 | NBEAL2 | c.4158C>A (p.Pro1386=) c.4056C>A (p.Pro1352=) c.2021C>A c.630C>A (p.Pro210=) c.4077C>A (p.Pro1359=) c.4137C>A (p.Pro1379=) c.3789C>A (p.Pro1263=) c.3618C>A (p.Pro1206=) c.3504C>A (p.Pro1168=) c.3066C>A (p.Pro1022=) n.4334C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.47000257C= | CA1362363090 | NBEAL2 | c.4158C= (p.Pro1386=) c.4056C= (p.Pro1352=) c.2021C= c.630C= (p.Pro210=) c.4077C= (p.Pro1359=) c.4137C= (p.Pro1379=) c.3789C= (p.Pro1263=) c.3618C= (p.Pro1206=) c.3504C= (p.Pro1168=) c.3066C= (p.Pro1022=) n.4334C= | |
3 | g.47000257C>G | CA433598300 | NBEAL2 | c.4158C>G (p.Pro1386=) c.4056C>G (p.Pro1352=) c.2021C>G c.630C>G (p.Pro210=) c.4077C>G (p.Pro1359=) c.4137C>G (p.Pro1379=) c.3789C>G (p.Pro1263=) c.3618C>G (p.Pro1206=) c.3504C>G (p.Pro1168=) c.3066C>G (p.Pro1022=) n.4334C>G | gnomAD v4 |
3 | g.47000257C>T | CA2361154 | NBEAL2 | c.4158C>T (p.Pro1386=) c.4056C>T (p.Pro1352=) c.2021C>T c.630C>T (p.Pro210=) c.4077C>T (p.Pro1359=) c.4137C>T (p.Pro1379=) c.3789C>T (p.Pro1263=) c.3618C>T (p.Pro1206=) c.3504C>T (p.Pro1168=) c.3066C>T (p.Pro1022=) n.4334C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.47000258G>A | CA2361156 | NBEAL2 | c.4159G>A (p.Gly1387Ser) c.4057G>A (p.Gly1353Ser) c.2022G>A c.631G>A (p.Gly211Ser) c.4078G>A (p.Gly1360Ser) c.4138G>A (p.Gly1380Ser) c.3790G>A (p.Gly1264Ser) c.3619G>A (p.Gly1207Ser) c.3505G>A (p.Gly1169Ser) c.3067G>A (p.Gly1023Ser) n.4335G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.47000258G>C | CA352517027 | NBEAL2 | c.4159G>C (p.Gly1387Arg) c.4057G>C (p.Gly1353Arg) c.2022G>C c.631G>C (p.Gly211Arg) c.4078G>C (p.Gly1360Arg) c.4138G>C (p.Gly1380Arg) c.3790G>C (p.Gly1264Arg) c.3619G>C (p.Gly1207Arg) c.3505G>C (p.Gly1169Arg) c.3067G>C (p.Gly1023Arg) n.4335G>C | gnomAD v4 |
3 | g.47000258G= | CA1362363091 | NBEAL2 | c.4159G= (p.Gly1387=) c.4057G= (p.Gly1353=) c.2022G= c.631G= (p.Gly211=) c.4078G= (p.Gly1360=) c.4138G= (p.Gly1380=) c.3790G= (p.Gly1264=) c.3619G= (p.Gly1207=) c.3505G= (p.Gly1169=) c.3067G= (p.Gly1023=) n.4335G= | |
3 | g.47000258G>T | CA352517026 | NBEAL2 | c.4159G>T (p.Gly1387Cys) c.4057G>T (p.Gly1353Cys) c.2022G>T c.631G>T (p.Gly211Cys) c.4078G>T (p.Gly1360Cys) c.4138G>T (p.Gly1380Cys) c.3790G>T (p.Gly1264Cys) c.3619G>T (p.Gly1207Cys) c.3505G>T (p.Gly1169Cys) c.3067G>T (p.Gly1023Cys) n.4335G>T | COSMIC COSMIC |
3 | g.47000259G>A | CA352517028 | NBEAL2 | c.4160G>A (p.Gly1387Asp) c.4058G>A (p.Gly1353Asp) c.2023G>A c.632G>A (p.Gly211Asp) c.4079G>A (p.Gly1360Asp) c.4139G>A (p.Gly1380Asp) c.3791G>A (p.Gly1264Asp) c.3620G>A (p.Gly1207Asp) c.3506G>A (p.Gly1169Asp) c.3068G>A (p.Gly1023Asp) n.4336G>A | |
3 | g.47000259G>C | CA352517029 | NBEAL2 | c.4160G>C (p.Gly1387Ala) c.4058G>C (p.Gly1353Ala) c.2023G>C c.632G>C (p.Gly211Ala) c.4079G>C (p.Gly1360Ala) c.4139G>C (p.Gly1380Ala) c.3791G>C (p.Gly1264Ala) c.3620G>C (p.Gly1207Ala) c.3506G>C (p.Gly1169Ala) c.3068G>C (p.Gly1023Ala) n.4336G>C | |
3 | g.47000259G>T | CA352517030 | NBEAL2 | c.4160G>T (p.Gly1387Val) c.4058G>T (p.Gly1353Val) c.2023G>T c.632G>T (p.Gly211Val) c.4079G>T (p.Gly1360Val) c.4139G>T (p.Gly1380Val) c.3791G>T (p.Gly1264Val) c.3620G>T (p.Gly1207Val) c.3506G>T (p.Gly1169Val) c.3068G>T (p.Gly1023Val) n.4336G>T | |
3 | g.47000260C>A | CA433598301 | NBEAL2 | c.4161C>A (p.Gly1387=) c.4059C>A (p.Gly1353=) c.2024C>A c.633C>A (p.Gly211=) c.4080C>A (p.Gly1360=) c.4140C>A (p.Gly1380=) c.3792C>A (p.Gly1264=) c.3621C>A (p.Gly1207=) c.3507C>A (p.Gly1169=) c.3069C>A (p.Gly1023=) n.4337C>A | |
3 | g.47000260C= | CA1362363092 | NBEAL2 | c.4161C= (p.Gly1387=) c.4059C= (p.Gly1353=) c.2024C= c.633C= (p.Gly211=) c.4080C= (p.Gly1360=) c.4140C= (p.Gly1380=) c.3792C= (p.Gly1264=) c.3621C= (p.Gly1207=) c.3507C= (p.Gly1169=) c.3069C= (p.Gly1023=) n.4337C= | |
3 | g.47000260C>G | CA433598302 | NBEAL2 | c.4161C>G (p.Gly1387=) c.4059C>G (p.Gly1353=) c.2024C>G c.633C>G (p.Gly211=) c.4080C>G (p.Gly1360=) c.4140C>G (p.Gly1380=) c.3792C>G (p.Gly1264=) c.3621C>G (p.Gly1207=) c.3507C>G (p.Gly1169=) c.3069C>G (p.Gly1023=) n.4337C>G | |
3 | g.47000260C>T | CA2361157 | NBEAL2 | c.4161C>T (p.Gly1387=) c.4059C>T (p.Gly1353=) c.2024C>T c.633C>T (p.Gly211=) c.4080C>T (p.Gly1360=) c.4140C>T (p.Gly1380=) c.3792C>T (p.Gly1264=) c.3621C>T (p.Gly1207=) c.3507C>T (p.Gly1169=) c.3069C>T (p.Gly1023=) n.4337C>T | dbSNP ExAC gnomAD v2 |
3 | g.47000261A>C | CA352517031 | NBEAL2 | c.4162A>C (p.Thr1388Pro) c.4060A>C (p.Thr1354Pro) c.2025A>C c.634A>C (p.Thr212Pro) c.4081A>C (p.Thr1361Pro) c.4141A>C (p.Thr1381Pro) c.3793A>C (p.Thr1265Pro) c.3622A>C (p.Thr1208Pro) c.3508A>C (p.Thr1170Pro) c.3070A>C (p.Thr1024Pro) n.4338A>C | |
3 | g.47000261A>G | CA352517032 | NBEAL2 | c.4162A>G (p.Thr1388Ala) c.4060A>G (p.Thr1354Ala) c.2025A>G c.634A>G (p.Thr212Ala) c.4081A>G (p.Thr1361Ala) c.4141A>G (p.Thr1381Ala) c.3793A>G (p.Thr1265Ala) c.3622A>G (p.Thr1208Ala) c.3508A>G (p.Thr1170Ala) c.3070A>G (p.Thr1024Ala) n.4338A>G | |
3 | g.47000261A>T | CA352517033 | NBEAL2 | c.4162A>T (p.Thr1388Ser) c.4060A>T (p.Thr1354Ser) c.2025A>T c.634A>T (p.Thr212Ser) c.4081A>T (p.Thr1361Ser) c.4141A>T (p.Thr1381Ser) c.3793A>T (p.Thr1265Ser) c.3622A>T (p.Thr1208Ser) c.3508A>T (p.Thr1170Ser) c.3070A>T (p.Thr1024Ser) n.4338A>T | |
3 | g.47000262C>A | CA352517034 | NBEAL2 | c.4163C>A (p.Thr1388Asn) c.4061C>A (p.Thr1354Asn) c.2026C>A c.635C>A (p.Thr212Asn) c.4082C>A (p.Thr1361Asn) c.4142C>A (p.Thr1381Asn) c.3794C>A (p.Thr1265Asn) c.3623C>A (p.Thr1208Asn) c.3509C>A (p.Thr1170Asn) c.3071C>A (p.Thr1024Asn) n.4339C>A | |
3 | g.47000262C= | CA1362363093 | NBEAL2 | c.4163C= (p.Thr1388=) c.4061C= (p.Thr1354=) c.2026C= c.635C= (p.Thr212=) c.4082C= (p.Thr1361=) c.4142C= (p.Thr1381=) c.3794C= (p.Thr1265=) c.3623C= (p.Thr1208=) c.3509C= (p.Thr1170=) c.3071C= (p.Thr1024=) n.4339C= | |
3 | g.47000262C>G | CA352517035 | NBEAL2 | c.4163C>G (p.Thr1388Ser) c.4061C>G (p.Thr1354Ser) c.2026C>G c.635C>G (p.Thr212Ser) c.4082C>G (p.Thr1361Ser) c.4142C>G (p.Thr1381Ser) c.3794C>G (p.Thr1265Ser) c.3623C>G (p.Thr1208Ser) c.3509C>G (p.Thr1170Ser) c.3071C>G (p.Thr1024Ser) n.4339C>G | |
3 | g.47000262C>T | CA2361158 | NBEAL2 | c.4163C>T (p.Thr1388Ile) c.4061C>T (p.Thr1354Ile) c.2026C>T c.635C>T (p.Thr212Ile) c.4082C>T (p.Thr1361Ile) c.4142C>T (p.Thr1381Ile) c.3794C>T (p.Thr1265Ile) c.3623C>T (p.Thr1208Ile) c.3509C>T (p.Thr1170Ile) c.3071C>T (p.Thr1024Ile) n.4339C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.47000263T>A | CA433598305 | NBEAL2 | c.4164T>A (p.Thr1388=) c.4062T>A (p.Thr1354=) c.2027T>A c.636T>A (p.Thr212=) c.4083T>A (p.Thr1361=) c.4143T>A (p.Thr1381=) c.3795T>A (p.Thr1265=) c.3624T>A (p.Thr1208=) c.3510T>A (p.Thr1170=) c.3072T>A (p.Thr1024=) n.4340T>A | |
3 | g.47000263T>C | CA433598303 | NBEAL2 | c.4164T>C (p.Thr1388=) c.4062T>C (p.Thr1354=) c.2027T>C c.636T>C (p.Thr212=) c.4083T>C (p.Thr1361=) c.4143T>C (p.Thr1381=) c.3795T>C (p.Thr1265=) c.3624T>C (p.Thr1208=) c.3510T>C (p.Thr1170=) c.3072T>C (p.Thr1024=) n.4340T>C | |
3 | g.47000263T>G | CA433598304 | NBEAL2 | c.4164T>G (p.Thr1388=) c.4062T>G (p.Thr1354=) c.2027T>G c.636T>G (p.Thr212=) c.4083T>G (p.Thr1361=) c.4143T>G (p.Thr1381=) c.3795T>G (p.Thr1265=) c.3624T>G (p.Thr1208=) c.3510T>G (p.Thr1170=) c.3072T>G (p.Thr1024=) n.4340T>G | |
3 | g.47000264C>A | CA352517038 | NBEAL2 | c.4165C>A (p.Pro1389Thr) c.4063C>A (p.Pro1355Thr) c.2028C>A c.637C>A (p.Pro213Thr) c.4084C>A (p.Pro1362Thr) c.4144C>A (p.Pro1382Thr) c.3796C>A (p.Pro1266Thr) c.3625C>A (p.Pro1209Thr) c.3511C>A (p.Pro1171Thr) c.3073C>A (p.Pro1025Thr) n.4341C>A | |
3 | g.47000264C= | CA1362363094 | NBEAL2 | c.4165C= (p.Pro1389=) c.4063C= (p.Pro1355=) c.2028C= c.637C= (p.Pro213=) c.4084C= (p.Pro1362=) c.4144C= (p.Pro1382=) c.3796C= (p.Pro1266=) c.3625C= (p.Pro1209=) c.3511C= (p.Pro1171=) c.3073C= (p.Pro1025=) n.4341C= | |
3 | g.47000264C>G | CA352517037 | NBEAL2 | c.4165C>G (p.Pro1389Ala) c.4063C>G (p.Pro1355Ala) c.2028C>G c.637C>G (p.Pro213Ala) c.4084C>G (p.Pro1362Ala) c.4144C>G (p.Pro1382Ala) c.3796C>G (p.Pro1266Ala) c.3625C>G (p.Pro1209Ala) c.3511C>G (p.Pro1171Ala) c.3073C>G (p.Pro1025Ala) n.4341C>G | gnomAD v4 |
3 | g.47000264C>T | CA352517036 | NBEAL2 | c.4165C>T (p.Pro1389Ser) c.4063C>T (p.Pro1355Ser) c.2028C>T c.637C>T (p.Pro213Ser) c.4084C>T (p.Pro1362Ser) c.4144C>T (p.Pro1382Ser) c.3796C>T (p.Pro1266Ser) c.3625C>T (p.Pro1209Ser) c.3511C>T (p.Pro1171Ser) c.3073C>T (p.Pro1025Ser) n.4341C>T | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
3 | g.47000265C>A | CA352517039 | NBEAL2 | c.4166C>A (p.Pro1389His) c.4064C>A (p.Pro1355His) c.2029C>A c.638C>A (p.Pro213His) c.4085C>A (p.Pro1362His) c.4145C>A (p.Pro1382His) c.3797C>A (p.Pro1266His) c.3626C>A (p.Pro1209His) c.3512C>A (p.Pro1171His) c.3074C>A (p.Pro1025His) n.4342C>A | |
3 | g.47000265C>G | CA352517040 | NBEAL2 | c.4166C>G (p.Pro1389Arg) c.4064C>G (p.Pro1355Arg) c.2029C>G c.638C>G (p.Pro213Arg) c.4085C>G (p.Pro1362Arg) c.4145C>G (p.Pro1382Arg) c.3797C>G (p.Pro1266Arg) c.3626C>G (p.Pro1209Arg) c.3512C>G (p.Pro1171Arg) c.3074C>G (p.Pro1025Arg) n.4342C>G | |
3 | g.47000265C>T | CA352517041 | NBEAL2 | c.4166C>T (p.Pro1389Leu) c.4064C>T (p.Pro1355Leu) c.2029C>T c.638C>T (p.Pro213Leu) c.4085C>T (p.Pro1362Leu) c.4145C>T (p.Pro1382Leu) c.3797C>T (p.Pro1266Leu) c.3626C>T (p.Pro1209Leu) c.3512C>T (p.Pro1171Leu) c.3074C>T (p.Pro1025Leu) n.4342C>T | |
3 | g.47000266T>A | CA433598309 | NBEAL2 | c.4167T>A (p.Pro1389=) c.4065T>A (p.Pro1355=) c.2030T>A c.639T>A (p.Pro213=) c.4086T>A (p.Pro1362=) c.4146T>A (p.Pro1382=) c.3798T>A (p.Pro1266=) c.3627T>A (p.Pro1209=) c.3513T>A (p.Pro1171=) c.3075T>A (p.Pro1025=) n.4343T>A | |
3 | g.47000266T>C | CA433598310 | NBEAL2 | c.4167T>C (p.Pro1389=) c.4065T>C (p.Pro1355=) c.2030T>C c.639T>C (p.Pro213=) c.4086T>C (p.Pro1362=) c.4146T>C (p.Pro1382=) c.3798T>C (p.Pro1266=) c.3627T>C (p.Pro1209=) c.3513T>C (p.Pro1171=) c.3075T>C (p.Pro1025=) n.4343T>C | |
3 | g.47000266T>G | CA433598311 | NBEAL2 | c.4167T>G (p.Pro1389=) c.4065T>G (p.Pro1355=) c.2030T>G c.639T>G (p.Pro213=) c.4086T>G (p.Pro1362=) c.4146T>G (p.Pro1382=) c.3798T>G (p.Pro1266=) c.3627T>G (p.Pro1209=) c.3513T>G (p.Pro1171=) c.3075T>G (p.Pro1025=) n.4343T>G | |
3 | g.47000267T>A | CA352517042 | NBEAL2 | c.4168T>A (p.Ser1390Thr) c.4066T>A (p.Ser1356Thr) c.2031T>A c.640T>A (p.Ser214Thr) c.4087T>A (p.Ser1363Thr) c.4147T>A (p.Ser1383Thr) c.3799T>A (p.Ser1267Thr) c.3628T>A (p.Ser1210Thr) c.3514T>A (p.Ser1172Thr) c.3076T>A (p.Ser1026Thr) n.4344T>A | |
3 | g.47000267T>C | CA352517043 | NBEAL2 | c.4168T>C (p.Ser1390Pro) c.4066T>C (p.Ser1356Pro) c.2031T>C c.640T>C (p.Ser214Pro) c.4087T>C (p.Ser1363Pro) c.4147T>C (p.Ser1383Pro) c.3799T>C (p.Ser1267Pro) c.3628T>C (p.Ser1210Pro) c.3514T>C (p.Ser1172Pro) c.3076T>C (p.Ser1026Pro) n.4344T>C | |
3 | g.47000267T>G | CA352517044 | NBEAL2 | c.4168T>G (p.Ser1390Ala) c.4066T>G (p.Ser1356Ala) c.2031T>G c.640T>G (p.Ser214Ala) c.4087T>G (p.Ser1363Ala) c.4147T>G (p.Ser1383Ala) c.3799T>G (p.Ser1267Ala) c.3628T>G (p.Ser1210Ala) c.3514T>G (p.Ser1172Ala) c.3076T>G (p.Ser1026Ala) n.4344T>G | dbSNP |
3 | g.47000268C>A | CA352517045 | NBEAL2 | c.4169C>A (p.Ser1390Ter) c.4067C>A (p.Ser1356Ter) c.2032C>A c.641C>A (p.Ser214Ter) c.4088C>A (p.Ser1363Ter) c.4148C>A (p.Ser1383Ter) c.3800C>A (p.Ser1267Ter) c.3629C>A (p.Ser1210Ter) c.3515C>A (p.Ser1172Ter) c.3077C>A (p.Ser1026Ter) n.4345C>A | |
3 | g.47000268C= | CA1362363095 | NBEAL2 | c.4169C= (p.Ser1390=) c.4067C= (p.Ser1356=) c.2032C= c.641C= (p.Ser214=) c.4088C= (p.Ser1363=) c.4148C= (p.Ser1383=) c.3800C= (p.Ser1267=) c.3629C= (p.Ser1210=) c.3515C= (p.Ser1172=) c.3077C= (p.Ser1026=) n.4345C= | |
3 | g.47000268C>G | CA352517046 | NBEAL2 | c.4169C>G (p.Ser1390Trp) c.4067C>G (p.Ser1356Trp) c.2032C>G c.641C>G (p.Ser214Trp) c.4088C>G (p.Ser1363Trp) c.4148C>G (p.Ser1383Trp) c.3800C>G (p.Ser1267Trp) c.3629C>G (p.Ser1210Trp) c.3515C>G (p.Ser1172Trp) c.3077C>G (p.Ser1026Trp) n.4345C>G | |
3 | g.47000268C>T | CA2361159 | NBEAL2 | c.4169C>T (p.Ser1390Leu) c.4067C>T (p.Ser1356Leu) c.2032C>T c.641C>T (p.Ser214Leu) c.4088C>T (p.Ser1363Leu) c.4148C>T (p.Ser1383Leu) c.3800C>T (p.Ser1267Leu) c.3629C>T (p.Ser1210Leu) c.3515C>T (p.Ser1172Leu) c.3077C>T (p.Ser1026Leu) n.4345C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.47000268_47000269insT | CA1362363096 | NBEAL2 | c.4169_4170insT (p.Pro1391AlafsTer?) c.4067_4068insT (p.Pro1357AlafsTer?) c.2032_2033insT c.641_642insT (p.Pro215AlafsTer?) c.4088_4089insT (p.Pro1364AlafsTer?) c.4148_4149insT (p.Pro1384AlafsTer?) c.3800_3801insT (p.Pro1268AlafsTer?) c.3629_3630insT (p.Pro1211AlafsTer?) c.3515_3516insT (p.Pro1173AlafsTer?) c.3077_3078insT (p.Pro1027AlafsTer?) n.4345_4346insT | dbSNP |
3 | g.47000269G>A | CA2361160 | NBEAL2 | c.4170G>A (p.Ser1390=) c.4068G>A (p.Ser1356=) c.2033G>A c.642G>A (p.Ser214=) c.4089G>A (p.Ser1363=) c.4149G>A (p.Ser1383=) c.3801G>A (p.Ser1267=) c.3630G>A (p.Ser1210=) c.3516G>A (p.Ser1172=) c.3078G>A (p.Ser1026=) n.4346G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
3 | g.47000269G>C | CA433598315 | NBEAL2 | c.4170G>C (p.Ser1390=) c.4068G>C (p.Ser1356=) c.2033G>C c.642G>C (p.Ser214=) c.4089G>C (p.Ser1363=) c.4149G>C (p.Ser1383=) c.3801G>C (p.Ser1267=) c.3630G>C (p.Ser1210=) c.3516G>C (p.Ser1172=) c.3078G>C (p.Ser1026=) n.4346G>C | |
3 | g.47000269G= | CA1362363097 | NBEAL2 | c.4170G= (p.Ser1390=) c.4068G= (p.Ser1356=) c.2033G= c.642G= (p.Ser214=) c.4089G= (p.Ser1363=) c.4149G= (p.Ser1383=) c.3801G= (p.Ser1267=) c.3630G= (p.Ser1210=) c.3516G= (p.Ser1172=) c.3078G= (p.Ser1026=) n.4346G= | |
3 | g.47000269G>T | CA433598316 | NBEAL2 | c.4170G>T (p.Ser1390=) c.4068G>T (p.Ser1356=) c.2033G>T c.642G>T (p.Ser214=) c.4089G>T (p.Ser1363=) c.4149G>T (p.Ser1383=) c.3801G>T (p.Ser1267=) c.3630G>T (p.Ser1210=) c.3516G>T (p.Ser1172=) c.3078G>T (p.Ser1026=) n.4346G>T | |
3 | g.47000270C>A | CA352517047 | NBEAL2 | c.4171C>A (p.Pro1391Thr) c.4069C>A (p.Pro1357Thr) c.2034C>A c.643C>A (p.Pro215Thr) c.4090C>A (p.Pro1364Thr) c.4150C>A (p.Pro1384Thr) c.3802C>A (p.Pro1268Thr) c.3631C>A (p.Pro1211Thr) c.3517C>A (p.Pro1173Thr) c.3079C>A (p.Pro1027Thr) n.4347C>A | |
3 | g.47000270C= | CA1362363098 | NBEAL2 | c.4171C= (p.Pro1391=) c.4069C= (p.Pro1357=) c.2034C= c.643C= (p.Pro215=) c.4090C= (p.Pro1364=) c.4150C= (p.Pro1384=) c.3802C= (p.Pro1268=) c.3631C= (p.Pro1211=) c.3517C= (p.Pro1173=) c.3079C= (p.Pro1027=) n.4347C= | |
3 | g.47000270C>G | CA352517048 | NBEAL2 | c.4171C>G (p.Pro1391Ala) c.4069C>G (p.Pro1357Ala) c.2034C>G c.643C>G (p.Pro215Ala) c.4090C>G (p.Pro1364Ala) c.4150C>G (p.Pro1384Ala) c.3802C>G (p.Pro1268Ala) c.3631C>G (p.Pro1211Ala) c.3517C>G (p.Pro1173Ala) c.3079C>G (p.Pro1027Ala) n.4347C>G | dbSNP gnomAD v4 |
3 | g.47000270C>T | CA352517049 | NBEAL2 | c.4171C>T (p.Pro1391Ser) c.4069C>T (p.Pro1357Ser) c.2034C>T c.643C>T (p.Pro215Ser) c.4090C>T (p.Pro1364Ser) c.4150C>T (p.Pro1384Ser) c.3802C>T (p.Pro1268Ser) c.3631C>T (p.Pro1211Ser) c.3517C>T (p.Pro1173Ser) c.3079C>T (p.Pro1027Ser) n.4347C>T | |
3 | g.47000271C>A | CA352517051 | NBEAL2 | c.4172C>A (p.Pro1391Gln) c.4070C>A (p.Pro1357Gln) c.2035C>A c.644C>A (p.Pro215Gln) c.4091C>A (p.Pro1364Gln) c.4151C>A (p.Pro1384Gln) c.3803C>A (p.Pro1268Gln) c.3632C>A (p.Pro1211Gln) c.3518C>A (p.Pro1173Gln) c.3080C>A (p.Pro1027Gln) n.4348C>A | |
3 | g.47000271C= | CA1362363099 | NBEAL2 | c.4172C= (p.Pro1391=) c.4070C= (p.Pro1357=) c.2035C= c.644C= (p.Pro215=) c.4091C= (p.Pro1364=) c.4151C= (p.Pro1384=) c.3803C= (p.Pro1268=) c.3632C= (p.Pro1211=) c.3518C= (p.Pro1173=) c.3080C= (p.Pro1027=) n.4348C= | |
3 | g.47000271C>G | CA352517050 | NBEAL2 | c.4172C>G (p.Pro1391Arg) c.4070C>G (p.Pro1357Arg) c.2035C>G c.644C>G (p.Pro215Arg) c.4091C>G (p.Pro1364Arg) c.4151C>G (p.Pro1384Arg) c.3803C>G (p.Pro1268Arg) c.3632C>G (p.Pro1211Arg) c.3518C>G (p.Pro1173Arg) c.3080C>G (p.Pro1027Arg) n.4348C>G | |
3 | g.47000271C>T | CA2361161 | NBEAL2 | c.4172C>T (p.Pro1391Leu) c.4070C>T (p.Pro1357Leu) c.2035C>T c.644C>T (p.Pro215Leu) c.4091C>T (p.Pro1364Leu) c.4151C>T (p.Pro1384Leu) c.3803C>T (p.Pro1268Leu) c.3632C>T (p.Pro1211Leu) c.3518C>T (p.Pro1173Leu) c.3080C>T (p.Pro1027Leu) n.4348C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.47000272A>C | CA433598320 | NBEAL2 | c.4173A>C (p.Pro1391=) c.4071A>C (p.Pro1357=) c.2036A>C c.645A>C (p.Pro215=) c.4092A>C (p.Pro1364=) c.4152A>C (p.Pro1384=) c.3804A>C (p.Pro1268=) c.3633A>C (p.Pro1211=) c.3519A>C (p.Pro1173=) c.3081A>C (p.Pro1027=) n.4349A>C | |
3 | g.47000272A>G | CA433598321 | NBEAL2 | c.4173A>G (p.Pro1391=) c.4071A>G (p.Pro1357=) c.2036A>G c.645A>G (p.Pro215=) c.4092A>G (p.Pro1364=) c.4152A>G (p.Pro1384=) c.3804A>G (p.Pro1268=) c.3633A>G (p.Pro1211=) c.3519A>G (p.Pro1173=) c.3081A>G (p.Pro1027=) n.4349A>G | |
3 | g.47000272A>T | CA433598322 | NBEAL2 | c.4173A>T (p.Pro1391=) c.4071A>T (p.Pro1357=) c.2036A>T c.645A>T (p.Pro215=) c.4092A>T (p.Pro1364=) c.4152A>T (p.Pro1384=) c.3804A>T (p.Pro1268=) c.3633A>T (p.Pro1211=) c.3519A>T (p.Pro1173=) c.3081A>T (p.Pro1027=) n.4349A>T | |
3 | g.47000273C>A | CA352517052 | NBEAL2 | c.4174C>A (p.Leu1392Met) c.4072C>A (p.Leu1358Met) c.2037C>A c.646C>A (p.Leu216Met) c.4093C>A (p.Leu1365Met) c.4153C>A (p.Leu1385Met) c.3805C>A (p.Leu1269Met) c.3634C>A (p.Leu1212Met) c.3520C>A (p.Leu1174Met) c.3082C>A (p.Leu1028Met) n.4350C>A | |
3 | g.47000273C= | CA1362363100 | NBEAL2 | c.4174C= (p.Leu1392=) c.4072C= (p.Leu1358=) c.2037C= c.646C= (p.Leu216=) c.4093C= (p.Leu1365=) c.4153C= (p.Leu1385=) c.3805C= (p.Leu1269=) c.3634C= (p.Leu1212=) c.3520C= (p.Leu1174=) c.3082C= (p.Leu1028=) n.4350C= | |
3 | g.47000273C>G | CA352517053 | NBEAL2 | c.4174C>G (p.Leu1392Val) c.4072C>G (p.Leu1358Val) c.2037C>G c.646C>G (p.Leu216Val) c.4093C>G (p.Leu1365Val) c.4153C>G (p.Leu1385Val) c.3805C>G (p.Leu1269Val) c.3634C>G (p.Leu1212Val) c.3520C>G (p.Leu1174Val) c.3082C>G (p.Leu1028Val) n.4350C>G | |
3 | g.47000273C>T | CA73817859 | NBEAL2 | c.4174C>T (p.Leu1392=) c.4072C>T (p.Leu1358=) c.2037C>T c.646C>T (p.Leu216=) c.4093C>T (p.Leu1365=) c.4153C>T (p.Leu1385=) c.3805C>T (p.Leu1269=) c.3634C>T (p.Leu1212=) c.3520C>T (p.Leu1174=) c.3082C>T (p.Leu1028=) n.4350C>T | dbSNP gnomAD v4 |
3 | g.47000274T>A | CA352517054 | NBEAL2 | c.4175T>A (p.Leu1392Gln) c.4073T>A (p.Leu1358Gln) c.2038T>A c.647T>A (p.Leu216Gln) c.4094T>A (p.Leu1365Gln) c.4154T>A (p.Leu1385Gln) c.3806T>A (p.Leu1269Gln) c.3635T>A (p.Leu1212Gln) c.3521T>A (p.Leu1174Gln) c.3083T>A (p.Leu1028Gln) n.4351T>A | |
3 | g.47000274T>C | CA352517055 | NBEAL2 | c.4175T>C (p.Leu1392Pro) c.4073T>C (p.Leu1358Pro) c.2038T>C c.647T>C (p.Leu216Pro) c.4094T>C (p.Leu1365Pro) c.4154T>C (p.Leu1385Pro) c.3806T>C (p.Leu1269Pro) c.3635T>C (p.Leu1212Pro) c.3521T>C (p.Leu1174Pro) c.3083T>C (p.Leu1028Pro) n.4351T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.47000274T>G | CA352517056 | NBEAL2 | c.4175T>G (p.Leu1392Arg) c.4073T>G (p.Leu1358Arg) c.2038T>G c.647T>G (p.Leu216Arg) c.4094T>G (p.Leu1365Arg) c.4154T>G (p.Leu1385Arg) c.3806T>G (p.Leu1269Arg) c.3635T>G (p.Leu1212Arg) c.3521T>G (p.Leu1174Arg) c.3083T>G (p.Leu1028Arg) n.4351T>G | |
3 | g.47000274T= | CA1362363101 | NBEAL2 | c.4175T= (p.Leu1392=) c.4073T= (p.Leu1358=) c.2038T= c.647T= (p.Leu216=) c.4094T= (p.Leu1365=) c.4154T= (p.Leu1385=) c.3806T= (p.Leu1269=) c.3635T= (p.Leu1212=) c.3521T= (p.Leu1174=) c.3083T= (p.Leu1028=) n.4351T= | |
3 | g.47000275G>A | CA433598324 | NBEAL2 | c.4176G>A (p.Leu1392=) c.4074G>A (p.Leu1358=) c.2039G>A c.648G>A (p.Leu216=) c.4095G>A (p.Leu1365=) c.4155G>A (p.Leu1385=) c.3807G>A (p.Leu1269=) c.3636G>A (p.Leu1212=) c.3522G>A (p.Leu1174=) c.3084G>A (p.Leu1028=) n.4352G>A | |
3 | g.47000275G>C | CA433598325 | NBEAL2 | c.4176G>C (p.Leu1392=) c.4074G>C (p.Leu1358=) c.2039G>C c.648G>C (p.Leu216=) c.4095G>C (p.Leu1365=) c.4155G>C (p.Leu1385=) c.3807G>C (p.Leu1269=) c.3636G>C (p.Leu1212=) c.3522G>C (p.Leu1174=) c.3084G>C (p.Leu1028=) n.4352G>C | gnomAD v4 |
3 | g.47000275G>T | CA433598326 | NBEAL2 | c.4176G>T (p.Leu1392=) c.4074G>T (p.Leu1358=) c.2039G>T c.648G>T (p.Leu216=) c.4095G>T (p.Leu1365=) c.4155G>T (p.Leu1385=) c.3807G>T (p.Leu1269=) c.3636G>T (p.Leu1212=) c.3522G>T (p.Leu1174=) c.3084G>T (p.Leu1028=) n.4352G>T | |
3 | g.47000276G>A | CA352517057 | NBEAL2 | c.4177G>A (p.Asp1393Asn) c.4075G>A (p.Asp1359Asn) c.2040G>A c.649G>A (p.Asp217Asn) c.4096G>A (p.Asp1366Asn) c.4156G>A (p.Asp1386Asn) c.3808G>A (p.Asp1270Asn) c.3637G>A (p.Asp1213Asn) c.3523G>A (p.Asp1175Asn) c.3085G>A (p.Asp1029Asn) n.4353G>A | |
3 | g.47000276G>C | CA352517058 | NBEAL2 | c.4177G>C (p.Asp1393His) c.4075G>C (p.Asp1359His) c.2040G>C c.649G>C (p.Asp217His) c.4096G>C (p.Asp1366His) c.4156G>C (p.Asp1386His) c.3808G>C (p.Asp1270His) c.3637G>C (p.Asp1213His) c.3523G>C (p.Asp1175His) c.3085G>C (p.Asp1029His) n.4353G>C | |
3 | g.47000276G= | CA1362363102 | NBEAL2 | c.4177G= (p.Asp1393=) c.4075G= (p.Asp1359=) c.2040G= c.649G= (p.Asp217=) c.4096G= (p.Asp1366=) c.4156G= (p.Asp1386=) c.3808G= (p.Asp1270=) c.3637G= (p.Asp1213=) c.3523G= (p.Asp1175=) c.3085G= (p.Asp1029=) n.4353G= | |
3 | g.47000276G>T | CA352517059 | NBEAL2 | c.4177G>T (p.Asp1393Tyr) c.4075G>T (p.Asp1359Tyr) c.2040G>T c.649G>T (p.Asp217Tyr) c.4096G>T (p.Asp1366Tyr) c.4156G>T (p.Asp1386Tyr) c.3808G>T (p.Asp1270Tyr) c.3637G>T (p.Asp1213Tyr) c.3523G>T (p.Asp1175Tyr) c.3085G>T (p.Asp1029Tyr) n.4353G>T | gnomAD v4 |
3 | g.47000277A>C | CA352517060 | NBEAL2 | c.4178A>C (p.Asp1393Ala) c.4076A>C (p.Asp1359Ala) c.2041A>C c.650A>C (p.Asp217Ala) c.4097A>C (p.Asp1366Ala) c.4157A>C (p.Asp1386Ala) c.3809A>C (p.Asp1270Ala) c.3638A>C (p.Asp1213Ala) c.3524A>C (p.Asp1175Ala) c.3086A>C (p.Asp1029Ala) n.4354A>C | |
3 | g.47000277A>G | CA352517061 | NBEAL2 | c.4178A>G (p.Asp1393Gly) c.4076A>G (p.Asp1359Gly) c.2041A>G c.650A>G (p.Asp217Gly) c.4097A>G (p.Asp1366Gly) c.4157A>G (p.Asp1386Gly) c.3809A>G (p.Asp1270Gly) c.3638A>G (p.Asp1213Gly) c.3524A>G (p.Asp1175Gly) c.3086A>G (p.Asp1029Gly) n.4354A>G | gnomAD v4 |
3 | g.47000277A>T | CA352517062 | NBEAL2 | c.4178A>T (p.Asp1393Val) c.4076A>T (p.Asp1359Val) c.2041A>T c.650A>T (p.Asp217Val) c.4097A>T (p.Asp1366Val) c.4157A>T (p.Asp1386Val) c.3809A>T (p.Asp1270Val) c.3638A>T (p.Asp1213Val) c.3524A>T (p.Asp1175Val) c.3086A>T (p.Asp1029Val) n.4354A>T | |
3 | g.47000277dup | CA1362363104 | NBEAL2 | c.4178dup (p.Asp1393GlufsTer?) c.4076dup (p.Asp1359GlufsTer?) c.2041dup c.650dup (p.Asp217GlufsTer?) c.4097dup (p.Asp1366GlufsTer?) c.4157dup (p.Asp1386GlufsTer?) c.3809dup (p.Asp1270GlufsTer?) c.3638dup (p.Asp1213GlufsTer?) c.3524dup (p.Asp1175GlufsTer?) c.3086dup (p.Asp1029GlufsTer?) n.4354dup | dbSNP |
3 | g.47000277_47000295delinsATGGGCCGCGGCCCTTTCC | CA1362363103 | NBEAL2 | c.4178_4196delinsATGGGCCGCGGCCCTTTCC (p.Asp1393=) c.4076_4094delinsATGGGCCGCGGCCCTTTCC (p.Asp1359=) c.2041_2059delinsATGGGCCGCGGCCCTTTCC c.650_668delinsATGGGCCGCGGCCCTTTCC (p.Asp217=) c.4097_4115delinsATGGGCCGCGGCCCTTTCC (p.Asp1366=) c.4157_4175delinsATGGGCCGCGGCCCTTTCC (p.Asp1386=) c.3809_3827delinsATGGGCCGCGGCCCTTTCC (p.Asp1270=) c.3638_3656delinsATGGGCCGCGGCCCTTTCC (p.Asp1213=) c.3524_3542delinsATGGGCCGCGGCCCTTTCC (p.Asp1175=) c.3086_3104delinsATGGGCCGCGGCCCTTTCC (p.Asp1029=) n.4354_4372delinsATGGGCCGCGGCCCTTTCC | |
3 | g.47000278T>A | CA352517063 | NBEAL2 | c.4179T>A (p.Asp1393Glu) c.4077T>A (p.Asp1359Glu) c.2042T>A c.651T>A (p.Asp217Glu) c.4098T>A (p.Asp1366Glu) c.4158T>A (p.Asp1386Glu) c.3810T>A (p.Asp1270Glu) c.3639T>A (p.Asp1213Glu) c.3525T>A (p.Asp1175Glu) c.3087T>A (p.Asp1029Glu) n.4355T>A | dbSNP |
3 | g.47000278T>C | CA2361162 | NBEAL2 | c.4179T>C (p.Asp1393=) c.4077T>C (p.Asp1359=) c.2042T>C c.651T>C (p.Asp217=) c.4098T>C (p.Asp1366=) c.4158T>C (p.Asp1386=) c.3810T>C (p.Asp1270=) c.3639T>C (p.Asp1213=) c.3525T>C (p.Asp1175=) c.3087T>C (p.Asp1029=) n.4355T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.47000278T>G | CA352517064 | NBEAL2 | c.4179T>G (p.Asp1393Glu) c.4077T>G (p.Asp1359Glu) c.2042T>G c.651T>G (p.Asp217Glu) c.4098T>G (p.Asp1366Glu) c.4158T>G (p.Asp1386Glu) c.3810T>G (p.Asp1270Glu) c.3639T>G (p.Asp1213Glu) c.3525T>G (p.Asp1175Glu) c.3087T>G (p.Asp1029Glu) n.4355T>G | |
3 | g.47000278T= | CA1362363105 | NBEAL2 | c.4179T= (p.Asp1393=) c.4077T= (p.Asp1359=) c.2042T= c.651T= (p.Asp217=) c.4098T= (p.Asp1366=) c.4158T= (p.Asp1386=) c.3810T= (p.Asp1270=) c.3639T= (p.Asp1213=) c.3525T= (p.Asp1175=) c.3087T= (p.Asp1029=) n.4355T= | |
3 | g.47000280_47000297del | CA73817863 | NBEAL2 | c.4181_4198del (p.Gly1394_Pro1399del) c.4079_4096del (p.Gly1360_Pro1365del) c.2044_2061del c.653_670del (p.Gly218_Pro223del) c.4100_4117del (p.Gly1367_Pro1372del) c.4160_4177del (p.Gly1387_Pro1392del) c.3812_3829del (p.Gly1271_Pro1276del) c.3641_3658del (p.Gly1214_Pro1219del) c.3527_3544del (p.Gly1176_Pro1181del) c.3089_3106del (p.Gly1030_Pro1035del) n.4357_4374del | dbSNP gnomAD v4 |
3 | g.47000279G>A | CA2361163 | NBEAL2 | c.4180G>A (p.Gly1394Arg) c.4078G>A (p.Gly1360Arg) c.2043G>A c.652G>A (p.Gly218Arg) c.4099G>A (p.Gly1367Arg) c.4159G>A (p.Gly1387Arg) c.3811G>A (p.Gly1271Arg) c.3640G>A (p.Gly1214Arg) c.3526G>A (p.Gly1176Arg) c.3088G>A (p.Gly1030Arg) n.4356G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.47000279G>C | CA352517066 | NBEAL2 | c.4180G>C (p.Gly1394Arg) c.4078G>C (p.Gly1360Arg) c.2043G>C c.652G>C (p.Gly218Arg) c.4099G>C (p.Gly1367Arg) c.4159G>C (p.Gly1387Arg) c.3811G>C (p.Gly1271Arg) c.3640G>C (p.Gly1214Arg) c.3526G>C (p.Gly1176Arg) c.3088G>C (p.Gly1030Arg) n.4356G>C | |
3 | g.47000279G= | CA1362363106 | NBEAL2 | c.4180G= (p.Gly1394=) c.4078G= (p.Gly1360=) c.2043G= c.652G= (p.Gly218=) c.4099G= (p.Gly1367=) c.4159G= (p.Gly1387=) c.3811G= (p.Gly1271=) c.3640G= (p.Gly1214=) c.3526G= (p.Gly1176=) c.3088G= (p.Gly1030=) n.4356G= | |
3 | g.47000279G>T | CA352517065 | NBEAL2 | c.4180G>T (p.Gly1394Trp) c.4078G>T (p.Gly1360Trp) c.2043G>T c.652G>T (p.Gly218Trp) c.4099G>T (p.Gly1367Trp) c.4159G>T (p.Gly1387Trp) c.3811G>T (p.Gly1271Trp) c.3640G>T (p.Gly1214Trp) c.3526G>T (p.Gly1176Trp) c.3088G>T (p.Gly1030Trp) n.4356G>T | |
3 | g.47000280G>A | CA352517067 | NBEAL2 | c.4181G>A (p.Gly1394Glu) c.4079G>A (p.Gly1360Glu) c.2044G>A c.653G>A (p.Gly218Glu) c.4100G>A (p.Gly1367Glu) c.4160G>A (p.Gly1387Glu) c.3812G>A (p.Gly1271Glu) c.3641G>A (p.Gly1214Glu) c.3527G>A (p.Gly1176Glu) c.3089G>A (p.Gly1030Glu) n.4357G>A | |
3 | g.47000280G>C | CA352517069 | NBEAL2 | c.4181G>C (p.Gly1394Ala) c.4079G>C (p.Gly1360Ala) c.2044G>C c.653G>C (p.Gly218Ala) c.4100G>C (p.Gly1367Ala) c.4160G>C (p.Gly1387Ala) c.3812G>C (p.Gly1271Ala) c.3641G>C (p.Gly1214Ala) c.3527G>C (p.Gly1176Ala) c.3089G>C (p.Gly1030Ala) n.4357G>C | dbSNP |
3 | g.47000280G= | CA1362363107 | NBEAL2 | c.4181G= (p.Gly1394=) c.4079G= (p.Gly1360=) c.2044G= c.653G= (p.Gly218=) c.4100G= (p.Gly1367=) c.4160G= (p.Gly1387=) c.3812G= (p.Gly1271=) c.3641G= (p.Gly1214=) c.3527G= (p.Gly1176=) c.3089G= (p.Gly1030=) n.4357G= | |
3 | g.47000280G>T | CA352517068 | NBEAL2 | c.4181G>T (p.Gly1394Val) c.4079G>T (p.Gly1360Val) c.2044G>T c.653G>T (p.Gly218Val) c.4100G>T (p.Gly1367Val) c.4160G>T (p.Gly1387Val) c.3812G>T (p.Gly1271Val) c.3641G>T (p.Gly1214Val) c.3527G>T (p.Gly1176Val) c.3089G>T (p.Gly1030Val) n.4357G>T | |
3 | g.47000284_47000289dup | CA1047549891 | NBEAL2 | c.4185_4190dup (p.Pro1397_Phe1398insArgPro) c.4083_4088dup (p.Pro1363_Phe1364insArgPro) c.2048_2053dup c.657_662dup (p.Pro221_Phe222insArgPro) c.4104_4109dup (p.Pro1370_Phe1371insArgPro) c.4164_4169dup (p.Pro1390_Phe1391insArgPro) c.3816_3821dup (p.Pro1274_Phe1275insArgPro) c.3645_3650dup (p.Pro1217_Phe1218insArgPro) c.3531_3536dup (p.Pro1179_Phe1180insArgPro) c.3093_3098dup (p.Pro1033_Phe1034insArgPro) n.4361_4366dup | dbSNP gnomAD v3 gnomAD v4 |
3 | g.47000281G>A | CA2361164 | NBEAL2 | c.4182G>A (p.Gly1394=) c.4080G>A (p.Gly1360=) c.2045G>A c.654G>A (p.Gly218=) c.4101G>A (p.Gly1367=) c.4161G>A (p.Gly1387=) c.3813G>A (p.Gly1271=) c.3642G>A (p.Gly1214=) c.3528G>A (p.Gly1176=) c.3090G>A (p.Gly1030=) n.4358G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.47000281G>C | CA433598332 | NBEAL2 | c.4182G>C (p.Gly1394=) c.4080G>C (p.Gly1360=) c.2045G>C c.654G>C (p.Gly218=) c.4101G>C (p.Gly1367=) c.4161G>C (p.Gly1387=) c.3813G>C (p.Gly1271=) c.3642G>C (p.Gly1214=) c.3528G>C (p.Gly1176=) c.3090G>C (p.Gly1030=) n.4358G>C | gnomAD v4 |
3 | g.47000281G= | CA1362363108 | NBEAL2 | c.4182G= (p.Gly1394=) c.4080G= (p.Gly1360=) c.2045G= c.654G= (p.Gly218=) c.4101G= (p.Gly1367=) c.4161G= (p.Gly1387=) c.3813G= (p.Gly1271=) c.3642G= (p.Gly1214=) c.3528G= (p.Gly1176=) c.3090G= (p.Gly1030=) n.4358G= | |
3 | g.47000281G>T | CA433598334 | NBEAL2 | c.4182G>T (p.Gly1394=) c.4080G>T (p.Gly1360=) c.2045G>T c.654G>T (p.Gly218=) c.4101G>T (p.Gly1367=) c.4161G>T (p.Gly1387=) c.3813G>T (p.Gly1271=) c.3642G>T (p.Gly1214=) c.3528G>T (p.Gly1176=) c.3090G>T (p.Gly1030=) n.4358G>T | |
3 | g.47000282C>A | CA352517070 | NBEAL2 | c.4183C>A (p.Pro1395Thr) c.4081C>A (p.Pro1361Thr) c.2046C>A c.655C>A (p.Pro219Thr) c.4102C>A (p.Pro1368Thr) c.4162C>A (p.Pro1388Thr) c.3814C>A (p.Pro1272Thr) c.3643C>A (p.Pro1215Thr) c.3529C>A (p.Pro1177Thr) c.3091C>A (p.Pro1031Thr) n.4359C>A | |
3 | g.47000282C>G | CA352517071 | NBEAL2 | c.4183C>G (p.Pro1395Ala) c.4081C>G (p.Pro1361Ala) c.2046C>G c.655C>G (p.Pro219Ala) c.4102C>G (p.Pro1368Ala) c.4162C>G (p.Pro1388Ala) c.3814C>G (p.Pro1272Ala) c.3643C>G (p.Pro1215Ala) c.3529C>G (p.Pro1177Ala) c.3091C>G (p.Pro1031Ala) n.4359C>G | |
3 | g.47000282C>T | CA352517072 | NBEAL2 | c.4183C>T (p.Pro1395Ser) c.4081C>T (p.Pro1361Ser) c.2046C>T c.655C>T (p.Pro219Ser) c.4102C>T (p.Pro1368Ser) c.4162C>T (p.Pro1388Ser) c.3814C>T (p.Pro1272Ser) c.3643C>T (p.Pro1215Ser) c.3529C>T (p.Pro1177Ser) c.3091C>T (p.Pro1031Ser) n.4359C>T | |
3 | g.47000283C>A | CA352517073 | NBEAL2 | c.4184C>A (p.Pro1395Gln) c.4082C>A (p.Pro1361Gln) c.2047C>A c.656C>A (p.Pro219Gln) c.4103C>A (p.Pro1368Gln) c.4163C>A (p.Pro1388Gln) c.3815C>A (p.Pro1272Gln) c.3644C>A (p.Pro1215Gln) c.3530C>A (p.Pro1177Gln) c.3092C>A (p.Pro1031Gln) n.4360C>A | |
3 | g.47000283C= | CA1362363109 | NBEAL2 | c.4184C= (p.Pro1395=) c.4082C= (p.Pro1361=) c.2047C= c.656C= (p.Pro219=) c.4103C= (p.Pro1368=) c.4163C= (p.Pro1388=) c.3815C= (p.Pro1272=) c.3644C= (p.Pro1215=) c.3530C= (p.Pro1177=) c.3092C= (p.Pro1031=) n.4360C= | |
3 | g.47000283C>G | CA352517074 | NBEAL2 | c.4184C>G (p.Pro1395Arg) c.4082C>G (p.Pro1361Arg) c.2047C>G c.656C>G (p.Pro219Arg) c.4103C>G (p.Pro1368Arg) c.4163C>G (p.Pro1388Arg) c.3815C>G (p.Pro1272Arg) c.3644C>G (p.Pro1215Arg) c.3530C>G (p.Pro1177Arg) c.3092C>G (p.Pro1031Arg) n.4360C>G | gnomAD v4 |
3 | g.47000283C>T | CA73817877 | NBEAL2 | c.4184C>T (p.Pro1395Leu) c.4082C>T (p.Pro1361Leu) c.2047C>T c.656C>T (p.Pro219Leu) c.4103C>T (p.Pro1368Leu) c.4163C>T (p.Pro1388Leu) c.3815C>T (p.Pro1272Leu) c.3644C>T (p.Pro1215Leu) c.3530C>T (p.Pro1177Leu) c.3092C>T (p.Pro1031Leu) n.4360C>T | dbSNP gnomAD v2 gnomAD v4 |
3 | g.47000284G>A | CA2361165 | NBEAL2 | c.4185G>A (p.Pro1395=) c.4083G>A (p.Pro1361=) c.2048G>A c.657G>A (p.Pro219=) c.4104G>A (p.Pro1368=) c.4164G>A (p.Pro1388=) c.3816G>A (p.Pro1272=) c.3645G>A (p.Pro1215=) c.3531G>A (p.Pro1177=) c.3093G>A (p.Pro1031=) n.4361G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.47000284G>C | CA433598335 | NBEAL2 | c.4185G>C (p.Pro1395=) c.4083G>C (p.Pro1361=) c.2048G>C c.657G>C (p.Pro219=) c.4104G>C (p.Pro1368=) c.4164G>C (p.Pro1388=) c.3816G>C (p.Pro1272=) c.3645G>C (p.Pro1215=) c.3531G>C (p.Pro1177=) c.3093G>C (p.Pro1031=) n.4361G>C | |
3 | g.47000284G= | CA1362363110 | NBEAL2 | c.4185G= (p.Pro1395=) c.4083G= (p.Pro1361=) c.2048G= c.657G= (p.Pro219=) c.4104G= (p.Pro1368=) c.4164G= (p.Pro1388=) c.3816G= (p.Pro1272=) c.3645G= (p.Pro1215=) c.3531G= (p.Pro1177=) c.3093G= (p.Pro1031=) n.4361G= | |
3 | g.47000284G>T | CA433598337 | NBEAL2 | c.4185G>T (p.Pro1395=) c.4083G>T (p.Pro1361=) c.2048G>T c.657G>T (p.Pro219=) c.4104G>T (p.Pro1368=) c.4164G>T (p.Pro1388=) c.3816G>T (p.Pro1272=) c.3645G>T (p.Pro1215=) c.3531G>T (p.Pro1177=) c.3093G>T (p.Pro1031=) n.4361G>T | dbSNP gnomAD v4 COSMIC COSMIC |
3 | g.47000285C>A | CA433598338 | NBEAL2 | c.4186C>A (p.Arg1396=) c.4084C>A (p.Arg1362=) c.2049C>A c.658C>A (p.Arg220=) c.4105C>A (p.Arg1369=) c.4165C>A (p.Arg1389=) c.3817C>A (p.Arg1273=) c.3646C>A (p.Arg1216=) c.3532C>A (p.Arg1178=) c.3094C>A (p.Arg1032=) n.4362C>A | dbSNP gnomAD v4 |
3 | g.47000285C= | CA1362363111 | NBEAL2 | c.4186C= (p.Arg1396=) c.4084C= (p.Arg1362=) c.2049C= c.658C= (p.Arg220=) c.4105C= (p.Arg1369=) c.4165C= (p.Arg1389=) c.3817C= (p.Arg1273=) c.3646C= (p.Arg1216=) c.3532C= (p.Arg1178=) c.3094C= (p.Arg1032=) n.4362C= | |
3 | g.47000285C>G | CA352517075 | NBEAL2 | c.4186C>G (p.Arg1396Gly) c.4084C>G (p.Arg1362Gly) c.2049C>G c.658C>G (p.Arg220Gly) c.4105C>G (p.Arg1369Gly) c.4165C>G (p.Arg1389Gly) c.3817C>G (p.Arg1273Gly) c.3646C>G (p.Arg1216Gly) c.3532C>G (p.Arg1178Gly) c.3094C>G (p.Arg1032Gly) n.4362C>G | |
3 | g.47000285C>T | CA352517076 | NBEAL2 | c.4186C>T (p.Arg1396Trp) c.4084C>T (p.Arg1362Trp) c.2049C>T c.658C>T (p.Arg220Trp) c.4105C>T (p.Arg1369Trp) c.4165C>T (p.Arg1389Trp) c.3817C>T (p.Arg1273Trp) c.3646C>T (p.Arg1216Trp) c.3532C>T (p.Arg1178Trp) c.3094C>T (p.Arg1032Trp) n.4362C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.47000286G>A | CA352517079 | NBEAL2 | c.4187G>A (p.Arg1396Gln) c.4085G>A (p.Arg1362Gln) c.2050G>A c.659G>A (p.Arg220Gln) c.4106G>A (p.Arg1369Gln) c.4166G>A (p.Arg1389Gln) c.3818G>A (p.Arg1273Gln) c.3647G>A (p.Arg1216Gln) c.3533G>A (p.Arg1178Gln) c.3095G>A (p.Arg1032Gln) n.4363G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.47000286G>C | CA352517078 | NBEAL2 | c.4187G>C (p.Arg1396Pro) c.4085G>C (p.Arg1362Pro) c.2050G>C c.659G>C (p.Arg220Pro) c.4106G>C (p.Arg1369Pro) c.4166G>C (p.Arg1389Pro) c.3818G>C (p.Arg1273Pro) c.3647G>C (p.Arg1216Pro) c.3533G>C (p.Arg1178Pro) c.3095G>C (p.Arg1032Pro) n.4363G>C | |
3 | g.47000286G= | CA1362363112 | NBEAL2 | c.4187G= (p.Arg1396=) c.4085G= (p.Arg1362=) c.2050G= c.659G= (p.Arg220=) c.4106G= (p.Arg1369=) c.4166G= (p.Arg1389=) c.3818G= (p.Arg1273=) c.3647G= (p.Arg1216=) c.3533G= (p.Arg1178=) c.3095G= (p.Arg1032=) n.4363G= | |
3 | g.47000286G>T | CA352517077 | NBEAL2 | c.4187G>T (p.Arg1396Leu) c.4085G>T (p.Arg1362Leu) c.2050G>T c.659G>T (p.Arg220Leu) c.4106G>T (p.Arg1369Leu) c.4166G>T (p.Arg1389Leu) c.3818G>T (p.Arg1273Leu) c.3647G>T (p.Arg1216Leu) c.3533G>T (p.Arg1178Leu) c.3095G>T (p.Arg1032Leu) n.4363G>T | |
3 | g.47000287G>A | CA2361166 | NBEAL2 | c.4188G>A (p.Arg1396=) c.4086G>A (p.Arg1362=) c.2051G>A c.660G>A (p.Arg220=) c.4107G>A (p.Arg1369=) c.4167G>A (p.Arg1389=) c.3819G>A (p.Arg1273=) c.3648G>A (p.Arg1216=) c.3534G>A (p.Arg1178=) c.3096G>A (p.Arg1032=) n.4364G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.47000287G>C | CA433598340 | NBEAL2 | c.4188G>C (p.Arg1396=) c.4086G>C (p.Arg1362=) c.2051G>C c.660G>C (p.Arg220=) c.4107G>C (p.Arg1369=) c.4167G>C (p.Arg1389=) c.3819G>C (p.Arg1273=) c.3648G>C (p.Arg1216=) c.3534G>C (p.Arg1178=) c.3096G>C (p.Arg1032=) n.4364G>C | |
3 | g.47000287G= | CA1362363113 | NBEAL2 | c.4188G= (p.Arg1396=) c.4086G= (p.Arg1362=) c.2051G= c.660G= (p.Arg220=) c.4107G= (p.Arg1369=) c.4167G= (p.Arg1389=) c.3819G= (p.Arg1273=) c.3648G= (p.Arg1216=) c.3534G= (p.Arg1178=) c.3096G= (p.Arg1032=) n.4364G= | |
3 | g.47000287G>T | CA433598342 | NBEAL2 | c.4188G>T (p.Arg1396=) c.4086G>T (p.Arg1362=) c.2051G>T c.660G>T (p.Arg220=) c.4107G>T (p.Arg1369=) c.4167G>T (p.Arg1389=) c.3819G>T (p.Arg1273=) c.3648G>T (p.Arg1216=) c.3534G>T (p.Arg1178=) c.3096G>T (p.Arg1032=) n.4364G>T | |
3 | g.47000288C>A | CA352517080 | NBEAL2 | c.4189C>A (p.Pro1397Thr) c.4087C>A (p.Pro1363Thr) c.2052C>A c.661C>A (p.Pro221Thr) c.4108C>A (p.Pro1370Thr) c.4168C>A (p.Pro1390Thr) c.3820C>A (p.Pro1274Thr) c.3649C>A (p.Pro1217Thr) c.3535C>A (p.Pro1179Thr) c.3097C>A (p.Pro1033Thr) n.4365C>A | dbSNP gnomAD v2 |
3 | g.47000288C= | CA1362363114 | NBEAL2 | c.4189C= (p.Pro1397=) c.4087C= (p.Pro1363=) c.2052C= c.661C= (p.Pro221=) c.4108C= (p.Pro1370=) c.4168C= (p.Pro1390=) c.3820C= (p.Pro1274=) c.3649C= (p.Pro1217=) c.3535C= (p.Pro1179=) c.3097C= (p.Pro1033=) n.4365C= | |
3 | g.47000288C>G | CA352517081 | NBEAL2 | c.4189C>G (p.Pro1397Ala) c.4087C>G (p.Pro1363Ala) c.2052C>G c.661C>G (p.Pro221Ala) c.4108C>G (p.Pro1370Ala) c.4168C>G (p.Pro1390Ala) c.3820C>G (p.Pro1274Ala) c.3649C>G (p.Pro1217Ala) c.3535C>G (p.Pro1179Ala) c.3097C>G (p.Pro1033Ala) n.4365C>G | |
3 | g.47000288C>T | CA352517082 | NBEAL2 | c.4189C>T (p.Pro1397Ser) c.4087C>T (p.Pro1363Ser) c.2052C>T c.661C>T (p.Pro221Ser) c.4108C>T (p.Pro1370Ser) c.4168C>T (p.Pro1390Ser) c.3820C>T (p.Pro1274Ser) c.3649C>T (p.Pro1217Ser) c.3535C>T (p.Pro1179Ser) c.3097C>T (p.Pro1033Ser) n.4365C>T | gnomAD v4 |
3 | g.47000289C>A | CA352517083 | NBEAL2 | c.4190C>A (p.Pro1397His) c.4088C>A (p.Pro1363His) c.2053C>A c.662C>A (p.Pro221His) c.4109C>A (p.Pro1370His) c.4169C>A (p.Pro1390His) c.3821C>A (p.Pro1274His) c.3650C>A (p.Pro1217His) c.3536C>A (p.Pro1179His) c.3098C>A (p.Pro1033His) n.4366C>A | |
3 | g.47000289C>G | CA352517084 | NBEAL2 | c.4190C>G (p.Pro1397Arg) c.4088C>G (p.Pro1363Arg) c.2053C>G c.662C>G (p.Pro221Arg) c.4109C>G (p.Pro1370Arg) c.4169C>G (p.Pro1390Arg) c.3821C>G (p.Pro1274Arg) c.3650C>G (p.Pro1217Arg) c.3536C>G (p.Pro1179Arg) c.3098C>G (p.Pro1033Arg) n.4366C>G | |
3 | g.47000289C>T | CA352517085 | NBEAL2 | c.4190C>T (p.Pro1397Leu) c.4088C>T (p.Pro1363Leu) c.2053C>T c.662C>T (p.Pro221Leu) c.4109C>T (p.Pro1370Leu) c.4169C>T (p.Pro1390Leu) c.3821C>T (p.Pro1274Leu) c.3650C>T (p.Pro1217Leu) c.3536C>T (p.Pro1179Leu) c.3098C>T (p.Pro1033Leu) n.4366C>T | gnomAD v4 |
3 | g.47000290C>A | CA433598344 | NBEAL2 | c.4191C>A (p.Pro1397=) c.4089C>A (p.Pro1363=) c.2054C>A c.663C>A (p.Pro221=) c.4110C>A (p.Pro1370=) c.4170C>A (p.Pro1390=) c.3822C>A (p.Pro1274=) c.3651C>A (p.Pro1217=) c.3537C>A (p.Pro1179=) c.3099C>A (p.Pro1033=) n.4367C>A | |
3 | g.47000290C= | CA1362363115 | NBEAL2 | c.4191C= (p.Pro1397=) c.4089C= (p.Pro1363=) c.2054C= c.663C= (p.Pro221=) c.4110C= (p.Pro1370=) c.4170C= (p.Pro1390=) c.3822C= (p.Pro1274=) c.3651C= (p.Pro1217=) c.3537C= (p.Pro1179=) c.3099C= (p.Pro1033=) n.4367C= | |
3 | g.47000290C>G | CA433598345 | NBEAL2 | c.4191C>G (p.Pro1397=) c.4089C>G (p.Pro1363=) c.2054C>G c.663C>G (p.Pro221=) c.4110C>G (p.Pro1370=) c.4170C>G (p.Pro1390=) c.3822C>G (p.Pro1274=) c.3651C>G (p.Pro1217=) c.3537C>G (p.Pro1179=) c.3099C>G (p.Pro1033=) n.4367C>G | |
3 | g.47000290C>T | CA2361167 | NBEAL2 | c.4191C>T (p.Pro1397=) c.4089C>T (p.Pro1363=) c.2054C>T c.663C>T (p.Pro221=) c.4110C>T (p.Pro1370=) c.4170C>T (p.Pro1390=) c.3822C>T (p.Pro1274=) c.3651C>T (p.Pro1217=) c.3537C>T (p.Pro1179=) c.3099C>T (p.Pro1033=) n.4367C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.47000291T>A | CA352517086 | NBEAL2 | c.4192T>A (p.Phe1398Ile) c.4090T>A (p.Phe1364Ile) c.2055T>A c.664T>A (p.Phe222Ile) c.4111T>A (p.Phe1371Ile) c.4171T>A (p.Phe1391Ile) c.3823T>A (p.Phe1275Ile) c.3652T>A (p.Phe1218Ile) c.3538T>A (p.Phe1180Ile) c.3100T>A (p.Phe1034Ile) n.4368T>A | |
3 | g.47000291T>C | CA2361168 | NBEAL2 | c.4192T>C (p.Phe1398Leu) c.4090T>C (p.Phe1364Leu) c.2055T>C c.664T>C (p.Phe222Leu) c.4111T>C (p.Phe1371Leu) c.4171T>C (p.Phe1391Leu) c.3823T>C (p.Phe1275Leu) c.3652T>C (p.Phe1218Leu) c.3538T>C (p.Phe1180Leu) c.3100T>C (p.Phe1034Leu) n.4368T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.47000291T>G | CA352517087 | NBEAL2 | c.4192T>G (p.Phe1398Val) c.4090T>G (p.Phe1364Val) c.2055T>G c.664T>G (p.Phe222Val) c.4111T>G (p.Phe1371Val) c.4171T>G (p.Phe1391Val) c.3823T>G (p.Phe1275Val) c.3652T>G (p.Phe1218Val) c.3538T>G (p.Phe1180Val) c.3100T>G (p.Phe1034Val) n.4368T>G | |
3 | g.47000291T= | CA1362363116 | NBEAL2 | c.4192T= (p.Phe1398=) c.4090T= (p.Phe1364=) c.2055T= c.664T= (p.Phe222=) c.4111T= (p.Phe1371=) c.4171T= (p.Phe1391=) c.3823T= (p.Phe1275=) c.3652T= (p.Phe1218=) c.3538T= (p.Phe1180=) c.3100T= (p.Phe1034=) n.4368T= | |
3 | g.47000292T>A | CA352517090 | NBEAL2 | c.4193T>A (p.Phe1398Tyr) c.4091T>A (p.Phe1364Tyr) c.2056T>A c.665T>A (p.Phe222Tyr) c.4112T>A (p.Phe1371Tyr) c.4172T>A (p.Phe1391Tyr) c.3824T>A (p.Phe1275Tyr) c.3653T>A (p.Phe1218Tyr) c.3539T>A (p.Phe1180Tyr) c.3101T>A (p.Phe1034Tyr) n.4369T>A | |
3 | g.47000292T>C | CA352517089 | NBEAL2 | c.4193T>C (p.Phe1398Ser) c.4091T>C (p.Phe1364Ser) c.2056T>C c.665T>C (p.Phe222Ser) c.4112T>C (p.Phe1371Ser) c.4172T>C (p.Phe1391Ser) c.3824T>C (p.Phe1275Ser) c.3653T>C (p.Phe1218Ser) c.3539T>C (p.Phe1180Ser) c.3101T>C (p.Phe1034Ser) n.4369T>C | gnomAD v4 |
3 | g.47000292T>G | CA352517088 | NBEAL2 | c.4193T>G (p.Phe1398Cys) c.4091T>G (p.Phe1364Cys) c.2056T>G c.665T>G (p.Phe222Cys) c.4112T>G (p.Phe1371Cys) c.4172T>G (p.Phe1391Cys) c.3824T>G (p.Phe1275Cys) c.3653T>G (p.Phe1218Cys) c.3539T>G (p.Phe1180Cys) c.3101T>G (p.Phe1034Cys) n.4369T>G | |
3 | g.47000293T>A | CA352517091 | NBEAL2 | c.4194T>A (p.Phe1398Leu) c.4092T>A (p.Phe1364Leu) c.2057T>A c.666T>A (p.Phe222Leu) c.4113T>A (p.Phe1371Leu) c.4173T>A (p.Phe1391Leu) c.3825T>A (p.Phe1275Leu) c.3654T>A (p.Phe1218Leu) c.3540T>A (p.Phe1180Leu) c.3102T>A (p.Phe1034Leu) n.4370T>A | |
3 | g.47000293T>C | CA433598348 | NBEAL2 | c.4194T>C (p.Phe1398=) c.4092T>C (p.Phe1364=) c.2057T>C c.666T>C (p.Phe222=) c.4113T>C (p.Phe1371=) c.4173T>C (p.Phe1391=) c.3825T>C (p.Phe1275=) c.3654T>C (p.Phe1218=) c.3540T>C (p.Phe1180=) c.3102T>C (p.Phe1034=) n.4370T>C | |
3 | g.47000293T>G | CA352517092 | NBEAL2 | c.4194T>G (p.Phe1398Leu) c.4092T>G (p.Phe1364Leu) c.2057T>G c.666T>G (p.Phe222Leu) c.4113T>G (p.Phe1371Leu) c.4173T>G (p.Phe1391Leu) c.3825T>G (p.Phe1275Leu) c.3654T>G (p.Phe1218Leu) c.3540T>G (p.Phe1180Leu) c.3102T>G (p.Phe1034Leu) n.4370T>G | |
3 | g.47000294C>A | CA352517093 | NBEAL2 | c.4195C>A (p.Pro1399Thr) c.4093C>A (p.Pro1365Thr) c.2058C>A c.667C>A (p.Pro223Thr) c.4114C>A (p.Pro1372Thr) c.4174C>A (p.Pro1392Thr) c.3826C>A (p.Pro1276Thr) c.3655C>A (p.Pro1219Thr) c.3541C>A (p.Pro1181Thr) c.3103C>A (p.Pro1035Thr) n.4371C>A | |
3 | g.47000294C>G | CA352517094 | NBEAL2 | c.4195C>G (p.Pro1399Ala) c.4093C>G (p.Pro1365Ala) c.2058C>G c.667C>G (p.Pro223Ala) c.4114C>G (p.Pro1372Ala) c.4174C>G (p.Pro1392Ala) c.3826C>G (p.Pro1276Ala) c.3655C>G (p.Pro1219Ala) c.3541C>G (p.Pro1181Ala) c.3103C>G (p.Pro1035Ala) n.4371C>G | |
3 | g.47000294C>T | CA352517095 | NBEAL2 | c.4195C>T (p.Pro1399Ser) c.4093C>T (p.Pro1365Ser) c.2058C>T c.667C>T (p.Pro223Ser) c.4114C>T (p.Pro1372Ser) c.4174C>T (p.Pro1392Ser) c.3826C>T (p.Pro1276Ser) c.3655C>T (p.Pro1219Ser) c.3541C>T (p.Pro1181Ser) c.3103C>T (p.Pro1035Ser) n.4371C>T | |
3 | g.47000295C>A | CA352517096 | NBEAL2 | c.4196C>A (p.Pro1399His) c.4094C>A (p.Pro1365His) c.2059C>A c.668C>A (p.Pro223His) c.4115C>A (p.Pro1372His) c.4175C>A (p.Pro1392His) c.3827C>A (p.Pro1276His) c.3656C>A (p.Pro1219His) c.3542C>A (p.Pro1181His) c.3104C>A (p.Pro1035His) n.4372C>A | |
3 | g.47000295C= | CA1362363117 | NBEAL2 | c.4196C= (p.Pro1399=) c.4094C= (p.Pro1365=) c.2059C= c.668C= (p.Pro223=) c.4115C= (p.Pro1372=) c.4175C= (p.Pro1392=) c.3827C= (p.Pro1276=) c.3656C= (p.Pro1219=) c.3542C= (p.Pro1181=) c.3104C= (p.Pro1035=) n.4372C= | |
3 | g.47000295C>G | CA352517097 | NBEAL2 | c.4196C>G (p.Pro1399Arg) c.4094C>G (p.Pro1365Arg) c.2059C>G c.668C>G (p.Pro223Arg) c.4115C>G (p.Pro1372Arg) c.4175C>G (p.Pro1392Arg) c.3827C>G (p.Pro1276Arg) c.3656C>G (p.Pro1219Arg) c.3542C>G (p.Pro1181Arg) c.3104C>G (p.Pro1035Arg) n.4372C>G | |
3 | g.47000295C>T | CA2361169 | NBEAL2 | c.4196C>T (p.Pro1399Leu) c.4094C>T (p.Pro1365Leu) c.2059C>T c.668C>T (p.Pro223Leu) c.4115C>T (p.Pro1372Leu) c.4175C>T (p.Pro1392Leu) c.3827C>T (p.Pro1276Leu) c.3656C>T (p.Pro1219Leu) c.3542C>T (p.Pro1181Leu) c.3104C>T (p.Pro1035Leu) n.4372C>T | dbSNP ExAC gnomAD v2 |
3 | g.47000296T>A | CA433598350 | NBEAL2 | c.4197T>A (p.Pro1399=) c.4095T>A (p.Pro1365=) c.2060T>A c.669T>A (p.Pro223=) c.4116T>A (p.Pro1372=) c.4176T>A (p.Pro1392=) c.3828T>A (p.Pro1276=) c.3657T>A (p.Pro1219=) c.3543T>A (p.Pro1181=) c.3105T>A (p.Pro1035=) n.4373T>A | |
3 | g.47000296T>C | CA433598351 | NBEAL2 | c.4197T>C (p.Pro1399=) c.4095T>C (p.Pro1365=) c.2060T>C c.669T>C (p.Pro223=) c.4116T>C (p.Pro1372=) c.4176T>C (p.Pro1392=) c.3828T>C (p.Pro1276=) c.3657T>C (p.Pro1219=) c.3543T>C (p.Pro1181=) c.3105T>C (p.Pro1035=) n.4373T>C | |
3 | g.47000296T>G | CA433598352 | NBEAL2 | c.4197T>G (p.Pro1399=) c.4095T>G (p.Pro1365=) c.2060T>G c.669T>G (p.Pro223=) c.4116T>G (p.Pro1372=) c.4176T>G (p.Pro1392=) c.3828T>G (p.Pro1276=) c.3657T>G (p.Pro1219=) c.3543T>G (p.Pro1181=) c.3105T>G (p.Pro1035=) n.4373T>G | |
3 | g.47000297G>A | CA352517098 | NBEAL2 | c.4198G>A (p.Ala1400Thr) c.4096G>A (p.Ala1366Thr) c.2061G>A c.670G>A (p.Ala224Thr) c.4117G>A (p.Ala1373Thr) c.4177G>A (p.Ala1393Thr) c.3829G>A (p.Ala1277Thr) c.3658G>A (p.Ala1220Thr) c.3544G>A (p.Ala1182Thr) c.3106G>A (p.Ala1036Thr) n.4374G>A | |
3 | g.47000297G>C | CA352517099 | NBEAL2 | c.4198G>C (p.Ala1400Pro) c.4096G>C (p.Ala1366Pro) c.2061G>C c.670G>C (p.Ala224Pro) c.4117G>C (p.Ala1373Pro) c.4177G>C (p.Ala1393Pro) c.3829G>C (p.Ala1277Pro) c.3658G>C (p.Ala1220Pro) c.3544G>C (p.Ala1182Pro) c.3106G>C (p.Ala1036Pro) n.4374G>C | gnomAD v4 |
3 | g.47000297G>T | CA352517100 | NBEAL2 | c.4198G>T (p.Ala1400Ser) c.4096G>T (p.Ala1366Ser) c.2061G>T c.670G>T (p.Ala224Ser) c.4117G>T (p.Ala1373Ser) c.4177G>T (p.Ala1393Ser) c.3829G>T (p.Ala1277Ser) c.3658G>T (p.Ala1220Ser) c.3544G>T (p.Ala1182Ser) c.3106G>T (p.Ala1036Ser) n.4374G>T | |
3 | g.47000298C>A | CA352517103 | NBEAL2 | c.4199C>A (p.Ala1400Asp) c.4097C>A (p.Ala1366Asp) c.2062C>A c.671C>A (p.Ala224Asp) c.4118C>A (p.Ala1373Asp) c.4178C>A (p.Ala1393Asp) c.3830C>A (p.Ala1277Asp) c.3659C>A (p.Ala1220Asp) c.3545C>A (p.Ala1182Asp) c.3107C>A (p.Ala1036Asp) n.4375C>A | |
3 | g.47000298C>G | CA352517102 | NBEAL2 | c.4199C>G (p.Ala1400Gly) c.4097C>G (p.Ala1366Gly) c.2062C>G c.671C>G (p.Ala224Gly) c.4118C>G (p.Ala1373Gly) c.4178C>G (p.Ala1393Gly) c.3830C>G (p.Ala1277Gly) c.3659C>G (p.Ala1220Gly) c.3545C>G (p.Ala1182Gly) c.3107C>G (p.Ala1036Gly) n.4375C>G | |
3 | g.47000298C>T | CA352517101 | NBEAL2 | c.4199C>T (p.Ala1400Val) c.4097C>T (p.Ala1366Val) c.2062C>T c.671C>T (p.Ala224Val) c.4118C>T (p.Ala1373Val) c.4178C>T (p.Ala1393Val) c.3830C>T (p.Ala1277Val) c.3659C>T (p.Ala1220Val) c.3545C>T (p.Ala1182Val) c.3107C>T (p.Ala1036Val) n.4375C>T | |
3 | g.47000299T>A | CA2361170 | NBEAL2 | c.4200T>A (p.Ala1400=) c.4098T>A (p.Ala1366=) c.2063T>A c.672T>A (p.Ala224=) c.4119T>A (p.Ala1373=) c.4179T>A (p.Ala1393=) c.3831T>A (p.Ala1277=) c.3660T>A (p.Ala1220=) c.3546T>A (p.Ala1182=) c.3108T>A (p.Ala1036=) n.4376T>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.47000299T>C | CA433598353 | NBEAL2 | c.4200T>C (p.Ala1400=) c.4098T>C (p.Ala1366=) c.2063T>C c.672T>C (p.Ala224=) c.4119T>C (p.Ala1373=) c.4179T>C (p.Ala1393=) c.3831T>C (p.Ala1277=) c.3660T>C (p.Ala1220=) c.3546T>C (p.Ala1182=) c.3108T>C (p.Ala1036=) n.4376T>C | |
3 | g.47000299T>G | CA433598354 | NBEAL2 | c.4200T>G (p.Ala1400=) c.4098T>G (p.Ala1366=) c.2063T>G c.672T>G (p.Ala224=) c.4119T>G (p.Ala1373=) c.4179T>G (p.Ala1393=) c.3831T>G (p.Ala1277=) c.3660T>G (p.Ala1220=) c.3546T>G (p.Ala1182=) c.3108T>G (p.Ala1036=) n.4376T>G | |
3 | g.47000299T= | CA1362363118 | NBEAL2 | c.4200T= (p.Ala1400=) c.4098T= (p.Ala1366=) c.2063T= c.672T= (p.Ala224=) c.4119T= (p.Ala1373=) c.4179T= (p.Ala1393=) c.3831T= (p.Ala1277=) c.3660T= (p.Ala1220=) c.3546T= (p.Ala1182=) c.3108T= (p.Ala1036=) n.4376T= | |
3 | g.47000300G>A | CA352517104 | NBEAL2 | c.4201G>A (p.Ala1401Thr) c.4099G>A (p.Ala1367Thr) c.2064G>A c.673G>A (p.Ala225Thr) c.4120G>A (p.Ala1374Thr) c.4180G>A (p.Ala1394Thr) c.3832G>A (p.Ala1278Thr) c.3661G>A (p.Ala1221Thr) c.3547G>A (p.Ala1183Thr) c.3109G>A (p.Ala1037Thr) n.4377G>A | dbSNP |
3 | g.47000300G>C | CA352517105 | NBEAL2 | c.4201G>C (p.Ala1401Pro) c.4099G>C (p.Ala1367Pro) c.2064G>C c.673G>C (p.Ala225Pro) c.4120G>C (p.Ala1374Pro) c.4180G>C (p.Ala1394Pro) c.3832G>C (p.Ala1278Pro) c.3661G>C (p.Ala1221Pro) c.3547G>C (p.Ala1183Pro) c.3109G>C (p.Ala1037Pro) n.4377G>C | |
3 | g.47000300G= | CA1362363119 | NBEAL2 | c.4201G= (p.Ala1401=) c.4099G= (p.Ala1367=) c.2064G= c.673G= (p.Ala225=) c.4120G= (p.Ala1374=) c.4180G= (p.Ala1394=) c.3832G= (p.Ala1278=) c.3661G= (p.Ala1221=) c.3547G= (p.Ala1183=) c.3109G= (p.Ala1037=) n.4377G= | |
3 | g.47000300G>T | CA352517106 | NBEAL2 | c.4201G>T (p.Ala1401Ser) c.4099G>T (p.Ala1367Ser) c.2064G>T c.673G>T (p.Ala225Ser) c.4120G>T (p.Ala1374Ser) c.4180G>T (p.Ala1394Ser) c.3832G>T (p.Ala1278Ser) c.3661G>T (p.Ala1221Ser) c.3547G>T (p.Ala1183Ser) c.3109G>T (p.Ala1037Ser) n.4377G>T | |
3 | g.47000301C>A | CA352517107 | NBEAL2 | c.4202C>A (p.Ala1401Asp) c.4100C>A (p.Ala1367Asp) c.2065C>A c.674C>A (p.Ala225Asp) c.4121C>A (p.Ala1374Asp) c.4181C>A (p.Ala1394Asp) c.3833C>A (p.Ala1278Asp) c.3662C>A (p.Ala1221Asp) c.3548C>A (p.Ala1183Asp) c.3110C>A (p.Ala1037Asp) n.4378C>A | |
3 | g.47000301C>G | CA352517108 | NBEAL2 | c.4202C>G (p.Ala1401Gly) c.4100C>G (p.Ala1367Gly) c.2065C>G c.674C>G (p.Ala225Gly) c.4121C>G (p.Ala1374Gly) c.4181C>G (p.Ala1394Gly) c.3833C>G (p.Ala1278Gly) c.3662C>G (p.Ala1221Gly) c.3548C>G (p.Ala1183Gly) c.3110C>G (p.Ala1037Gly) n.4378C>G | |
3 | g.47000301C>T | CA352517109 | NBEAL2 | c.4202C>T (p.Ala1401Val) c.4100C>T (p.Ala1367Val) c.2065C>T c.674C>T (p.Ala225Val) c.4121C>T (p.Ala1374Val) c.4181C>T (p.Ala1394Val) c.3833C>T (p.Ala1278Val) c.3662C>T (p.Ala1221Val) c.3548C>T (p.Ala1183Val) c.3110C>T (p.Ala1037Val) n.4378C>T | |
3 | g.47000302T>A | CA433598357 | NBEAL2 | c.4203T>A (p.Ala1401=) c.4101T>A (p.Ala1367=) c.2066T>A c.675T>A (p.Ala225=) c.4122T>A (p.Ala1374=) c.4182T>A (p.Ala1394=) c.3834T>A (p.Ala1278=) c.3663T>A (p.Ala1221=) c.3549T>A (p.Ala1183=) c.3111T>A (p.Ala1037=) n.4379T>A | |
3 | g.47000302T>C | CA433598360 | NBEAL2 | c.4203T>C (p.Ala1401=) c.4101T>C (p.Ala1367=) c.2066T>C c.675T>C (p.Ala225=) c.4122T>C (p.Ala1374=) c.4182T>C (p.Ala1394=) c.3834T>C (p.Ala1278=) c.3663T>C (p.Ala1221=) c.3549T>C (p.Ala1183=) c.3111T>C (p.Ala1037=) n.4379T>C | gnomAD v4 |
3 | g.47000302T>G | CA433598358 | NBEAL2 | c.4203T>G (p.Ala1401=) c.4101T>G (p.Ala1367=) c.2066T>G c.675T>G (p.Ala225=) c.4122T>G (p.Ala1374=) c.4182T>G (p.Ala1394=) c.3834T>G (p.Ala1278=) c.3663T>G (p.Ala1221=) c.3549T>G (p.Ala1183=) c.3111T>G (p.Ala1037=) n.4379T>G | |
3 | g.47000303C>A | CA352517110 | NBEAL2 | c.4204C>A (p.Pro1402Thr) c.4102C>A (p.Pro1368Thr) c.2067C>A c.676C>A (p.Pro226Thr) c.4123C>A (p.Pro1375Thr) c.4183C>A (p.Pro1395Thr) c.3835C>A (p.Pro1279Thr) c.3664C>A (p.Pro1222Thr) c.3550C>A (p.Pro1184Thr) c.3112C>A (p.Pro1038Thr) n.4380C>A | gnomAD v4 |
3 | g.47000303C= | CA1362363120 | NBEAL2 | c.4204C= (p.Pro1402=) c.4102C= (p.Pro1368=) c.2067C= c.676C= (p.Pro226=) c.4123C= (p.Pro1375=) c.4183C= (p.Pro1395=) c.3835C= (p.Pro1279=) c.3664C= (p.Pro1222=) c.3550C= (p.Pro1184=) c.3112C= (p.Pro1038=) n.4380C= | |
3 | g.47000303C>G | CA352517111 | NBEAL2 | c.4204C>G (p.Pro1402Ala) c.4102C>G (p.Pro1368Ala) c.2067C>G c.676C>G (p.Pro226Ala) c.4123C>G (p.Pro1375Ala) c.4183C>G (p.Pro1395Ala) c.3835C>G (p.Pro1279Ala) c.3664C>G (p.Pro1222Ala) c.3550C>G (p.Pro1184Ala) c.3112C>G (p.Pro1038Ala) n.4380C>G | dbSNP |
3 | g.47000303C>T | CA352517112 | NBEAL2 | c.4204C>T (p.Pro1402Ser) c.4102C>T (p.Pro1368Ser) c.2067C>T c.676C>T (p.Pro226Ser) c.4123C>T (p.Pro1375Ser) c.4183C>T (p.Pro1395Ser) c.3835C>T (p.Pro1279Ser) c.3664C>T (p.Pro1222Ser) c.3550C>T (p.Pro1184Ser) c.3112C>T (p.Pro1038Ser) n.4380C>T | dbSNP gnomAD v4 |
3 | g.47000304C>A | CA352517113 | NBEAL2 | c.4205C>A (p.Pro1402His) c.4103C>A (p.Pro1368His) c.2068C>A c.677C>A (p.Pro226His) c.4124C>A (p.Pro1375His) c.4184C>A (p.Pro1395His) c.3836C>A (p.Pro1279His) c.3665C>A (p.Pro1222His) c.3551C>A (p.Pro1184His) c.3113C>A (p.Pro1038His) n.4381C>A | |
3 | g.47000304C= | CA1362363121 | NBEAL2 | c.4205C= (p.Pro1402=) c.4103C= (p.Pro1368=) c.2068C= c.677C= (p.Pro226=) c.4124C= (p.Pro1375=) c.4184C= (p.Pro1395=) c.3836C= (p.Pro1279=) c.3665C= (p.Pro1222=) c.3551C= (p.Pro1184=) c.3113C= (p.Pro1038=) n.4381C= | |
3 | g.47000304C>G | CA352517114 | NBEAL2 | c.4205C>G (p.Pro1402Arg) c.4103C>G (p.Pro1368Arg) c.2068C>G c.677C>G (p.Pro226Arg) c.4124C>G (p.Pro1375Arg) c.4184C>G (p.Pro1395Arg) c.3836C>G (p.Pro1279Arg) c.3665C>G (p.Pro1222Arg) c.3551C>G (p.Pro1184Arg) c.3113C>G (p.Pro1038Arg) n.4381C>G | |
3 | g.47000304C>T | CA352517115 | NBEAL2 | c.4205C>T (p.Pro1402Leu) c.4103C>T (p.Pro1368Leu) c.2068C>T c.677C>T (p.Pro226Leu) c.4124C>T (p.Pro1375Leu) c.4184C>T (p.Pro1395Leu) c.3836C>T (p.Pro1279Leu) c.3665C>T (p.Pro1222Leu) c.3551C>T (p.Pro1184Leu) c.3113C>T (p.Pro1038Leu) n.4381C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.47000305T>A | CA433598362 | NBEAL2 | c.4206T>A (p.Pro1402=) c.4104T>A (p.Pro1368=) c.2069T>A c.678T>A (p.Pro226=) c.4125T>A (p.Pro1375=) c.4185T>A (p.Pro1395=) c.3837T>A (p.Pro1279=) c.3666T>A (p.Pro1222=) c.3552T>A (p.Pro1184=) c.3114T>A (p.Pro1038=) n.4382T>A | |
3 | g.47000305T>C | CA2361171 | NBEAL2 | c.4206T>C (p.Pro1402=) c.4104T>C (p.Pro1368=) c.2069T>C c.678T>C (p.Pro226=) c.4125T>C (p.Pro1375=) c.4185T>C (p.Pro1395=) c.3837T>C (p.Pro1279=) c.3666T>C (p.Pro1222=) c.3552T>C (p.Pro1184=) c.3114T>C (p.Pro1038=) n.4382T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.47000305T>G | CA433598363 | NBEAL2 | c.4206T>G (p.Pro1402=) c.4104T>G (p.Pro1368=) c.2069T>G c.678T>G (p.Pro226=) c.4125T>G (p.Pro1375=) c.4185T>G (p.Pro1395=) c.3837T>G (p.Pro1279=) c.3666T>G (p.Pro1222=) c.3552T>G (p.Pro1184=) c.3114T>G (p.Pro1038=) n.4382T>G | |
3 | g.47000305T= | CA1362363122 | NBEAL2 | c.4206T= (p.Pro1402=) c.4104T= (p.Pro1368=) c.2069T= c.678T= (p.Pro226=) c.4125T= (p.Pro1375=) c.4185T= (p.Pro1395=) c.3837T= (p.Pro1279=) c.3666T= (p.Pro1222=) c.3552T= (p.Pro1184=) c.3114T= (p.Pro1038=) n.4382T= | |
3 | g.47000306G>A | CA352517118 | NBEAL2 | c.4207G>A (p.Gly1403Ser) c.4105G>A (p.Gly1369Ser) c.2070G>A c.679G>A (p.Gly227Ser) c.4126G>A (p.Gly1376Ser) c.4186G>A (p.Gly1396Ser) c.3838G>A (p.Gly1280Ser) c.3667G>A (p.Gly1223Ser) c.3553G>A (p.Gly1185Ser) c.3115G>A (p.Gly1039Ser) n.4383G>A | |
3 | g.47000306G>C | CA352517116 | NBEAL2 | c.4207G>C (p.Gly1403Arg) c.4105G>C (p.Gly1369Arg) c.2070G>C c.679G>C (p.Gly227Arg) c.4126G>C (p.Gly1376Arg) c.4186G>C (p.Gly1396Arg) c.3838G>C (p.Gly1280Arg) c.3667G>C (p.Gly1223Arg) c.3553G>C (p.Gly1185Arg) c.3115G>C (p.Gly1039Arg) n.4383G>C | |
3 | g.47000306G>T | CA352517117 | NBEAL2 | c.4207G>T (p.Gly1403Cys) c.4105G>T (p.Gly1369Cys) c.2070G>T c.679G>T (p.Gly227Cys) c.4126G>T (p.Gly1376Cys) c.4186G>T (p.Gly1396Cys) c.3838G>T (p.Gly1280Cys) c.3667G>T (p.Gly1223Cys) c.3553G>T (p.Gly1185Cys) c.3115G>T (p.Gly1039Cys) n.4383G>T | |
3 | g.47000307G>A | CA2361172 | NBEAL2 | c.4208G>A (p.Gly1403Asp) c.4106G>A (p.Gly1369Asp) c.2071G>A c.680G>A (p.Gly227Asp) c.4127G>A (p.Gly1376Asp) c.4187G>A (p.Gly1396Asp) c.3839G>A (p.Gly1280Asp) c.3668G>A (p.Gly1223Asp) c.3554G>A (p.Gly1185Asp) c.3116G>A (p.Gly1039Asp) n.4384G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.47000307G>C | CA352517119 | NBEAL2 | c.4208G>C (p.Gly1403Ala) c.4106G>C (p.Gly1369Ala) c.2071G>C c.680G>C (p.Gly227Ala) c.4127G>C (p.Gly1376Ala) c.4187G>C (p.Gly1396Ala) c.3839G>C (p.Gly1280Ala) c.3668G>C (p.Gly1223Ala) c.3554G>C (p.Gly1185Ala) c.3116G>C (p.Gly1039Ala) n.4384G>C | |
3 | g.47000307G= | CA1362363123 | NBEAL2 | c.4208G= (p.Gly1403=) c.4106G= (p.Gly1369=) c.2071G= c.680G= (p.Gly227=) c.4127G= (p.Gly1376=) c.4187G= (p.Gly1396=) c.3839G= (p.Gly1280=) c.3668G= (p.Gly1223=) c.3554G= (p.Gly1185=) c.3116G= (p.Gly1039=) n.4384G= | |
3 | g.47000307G>T | CA352517120 | NBEAL2 | c.4208G>T (p.Gly1403Val) c.4106G>T (p.Gly1369Val) c.2071G>T c.680G>T (p.Gly227Val) c.4127G>T (p.Gly1376Val) c.4187G>T (p.Gly1396Val) c.3839G>T (p.Gly1280Val) c.3668G>T (p.Gly1223Val) c.3554G>T (p.Gly1185Val) c.3116G>T (p.Gly1039Val) n.4384G>T | |
3 | g.47000308C>A | CA433598364 | NBEAL2 | c.4209C>A (p.Gly1403=) c.4107C>A (p.Gly1369=) c.2072C>A c.681C>A (p.Gly227=) c.4128C>A (p.Gly1376=) c.4188C>A (p.Gly1396=) c.3840C>A (p.Gly1280=) c.3669C>A (p.Gly1223=) c.3555C>A (p.Gly1185=) c.3117C>A (p.Gly1039=) n.4385C>A | |
3 | g.47000308C>G | CA433598365 | NBEAL2 | c.4209C>G (p.Gly1403=) c.4107C>G (p.Gly1369=) c.2072C>G c.681C>G (p.Gly227=) c.4128C>G (p.Gly1376=) c.4188C>G (p.Gly1396=) c.3840C>G (p.Gly1280=) c.3669C>G (p.Gly1223=) c.3555C>G (p.Gly1185=) c.3117C>G (p.Gly1039=) n.4385C>G | gnomAD v4 |
3 | g.47000308C>T | CA433598366 | NBEAL2 | c.4209C>T (p.Gly1403=) c.4107C>T (p.Gly1369=) c.2072C>T c.681C>T (p.Gly227=) c.4128C>T (p.Gly1376=) c.4188C>T (p.Gly1396=) c.3840C>T (p.Gly1280=) c.3669C>T (p.Gly1223=) c.3555C>T (p.Gly1185=) c.3117C>T (p.Gly1039=) n.4385C>T | |
3 | g.47000309C>A | CA352517121 | NBEAL2 | c.4210C>A (p.Arg1404Ser) c.4108C>A (p.Arg1370Ser) c.2073C>A c.682C>A (p.Arg228Ser) c.4129C>A (p.Arg1377Ser) c.4189C>A (p.Arg1397Ser) c.3841C>A (p.Arg1281Ser) c.3670C>A (p.Arg1224Ser) c.3556C>A (p.Arg1186Ser) c.3118C>A (p.Arg1040Ser) n.4386C>A | |
3 | g.47000309C= | CA1362363124 | NBEAL2 | c.4210C= (p.Arg1404=) c.4108C= (p.Arg1370=) c.2073C= c.682C= (p.Arg228=) c.4129C= (p.Arg1377=) c.4189C= (p.Arg1397=) c.3841C= (p.Arg1281=) c.3670C= (p.Arg1224=) c.3556C= (p.Arg1186=) c.3118C= (p.Arg1040=) n.4386C= | |
3 | g.47000309C>G | CA352517122 | NBEAL2 | c.4210C>G (p.Arg1404Gly) c.4108C>G (p.Arg1370Gly) c.2073C>G c.682C>G (p.Arg228Gly) c.4129C>G (p.Arg1377Gly) c.4189C>G (p.Arg1397Gly) c.3841C>G (p.Arg1281Gly) c.3670C>G (p.Arg1224Gly) c.3556C>G (p.Arg1186Gly) c.3118C>G (p.Arg1040Gly) n.4386C>G | |
3 | g.47000309C>T | CA2361173 | NBEAL2 | c.4210C>T (p.Arg1404Cys) c.4108C>T (p.Arg1370Cys) c.2073C>T c.682C>T (p.Arg228Cys) c.4129C>T (p.Arg1377Cys) c.4189C>T (p.Arg1397Cys) c.3841C>T (p.Arg1281Cys) c.3670C>T (p.Arg1224Cys) c.3556C>T (p.Arg1186Cys) c.3118C>T (p.Arg1040Cys) n.4386C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
3 | g.47000310G>A | CA2361174 | NBEAL2 | c.4211G>A (p.Arg1404His) c.4109G>A (p.Arg1370His) c.2074G>A c.683G>A (p.Arg228His) c.4130G>A (p.Arg1377His) c.4190G>A (p.Arg1397His) c.3842G>A (p.Arg1281His) c.3671G>A (p.Arg1224His) c.3557G>A (p.Arg1186His) c.3119G>A (p.Arg1040His) n.4387G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.47000310G>C | CA352517124 | NBEAL2 | c.4211G>C (p.Arg1404Pro) c.4109G>C (p.Arg1370Pro) c.2074G>C c.683G>C (p.Arg228Pro) c.4130G>C (p.Arg1377Pro) c.4190G>C (p.Arg1397Pro) c.3842G>C (p.Arg1281Pro) c.3671G>C (p.Arg1224Pro) c.3557G>C (p.Arg1186Pro) c.3119G>C (p.Arg1040Pro) n.4387G>C | |
3 | g.47000310G= | CA1362363125 | NBEAL2 | c.4211G= (p.Arg1404=) c.4109G= (p.Arg1370=) c.2074G= c.683G= (p.Arg228=) c.4130G= (p.Arg1377=) c.4190G= (p.Arg1397=) c.3842G= (p.Arg1281=) c.3671G= (p.Arg1224=) c.3557G= (p.Arg1186=) c.3119G= (p.Arg1040=) n.4387G= | |
3 | g.47000310G>T | CA352517123 | NBEAL2 | c.4211G>T (p.Arg1404Leu) c.4109G>T (p.Arg1370Leu) c.2074G>T c.683G>T (p.Arg228Leu) c.4130G>T (p.Arg1377Leu) c.4190G>T (p.Arg1397Leu) c.3842G>T (p.Arg1281Leu) c.3671G>T (p.Arg1224Leu) c.3557G>T (p.Arg1186Leu) c.3119G>T (p.Arg1040Leu) n.4387G>T | |
3 | g.47000311C>A | CA433598368 | NBEAL2 | c.4212C>A (p.Arg1404=) c.4110C>A (p.Arg1370=) c.2075C>A c.684C>A (p.Arg228=) c.4131C>A (p.Arg1377=) c.4191C>A (p.Arg1397=) c.3843C>A (p.Arg1281=) c.3672C>A (p.Arg1224=) c.3558C>A (p.Arg1186=) c.3120C>A (p.Arg1040=) n.4388C>A | |
3 | g.47000311C= | CA1362363126 | NBEAL2 | c.4212C= (p.Arg1404=) c.4110C= (p.Arg1370=) c.2075C= c.684C= (p.Arg228=) c.4131C= (p.Arg1377=) c.4191C= (p.Arg1397=) c.3843C= (p.Arg1281=) c.3672C= (p.Arg1224=) c.3558C= (p.Arg1186=) c.3120C= (p.Arg1040=) n.4388C= | |
3 | g.47000311C>G | CA433598367 | NBEAL2 | c.4212C>G (p.Arg1404=) c.4110C>G (p.Arg1370=) c.2075C>G c.684C>G (p.Arg228=) c.4131C>G (p.Arg1377=) c.4191C>G (p.Arg1397=) c.3843C>G (p.Arg1281=) c.3672C>G (p.Arg1224=) c.3558C>G (p.Arg1186=) c.3120C>G (p.Arg1040=) n.4388C>G | |
3 | g.47000311C>T | CA2361175 | NBEAL2 | c.4212C>T (p.Arg1404=) c.4110C>T (p.Arg1370=) c.2075C>T c.684C>T (p.Arg228=) c.4131C>T (p.Arg1377=) c.4191C>T (p.Arg1397=) c.3843C>T (p.Arg1281=) c.3672C>T (p.Arg1224=) c.3558C>T (p.Arg1186=) c.3120C>T (p.Arg1040=) n.4388C>T | dbSNP ExAC gnomAD v2 |
3 | g.47000312C>A | CA352517125 | NBEAL2 | c.4213C>A (p.His1405Asn) c.4111C>A (p.His1371Asn) c.2076C>A c.685C>A (p.His229Asn) c.4132C>A (p.His1378Asn) c.4192C>A (p.His1398Asn) c.3844C>A (p.His1282Asn) c.3673C>A (p.His1225Asn) c.3559C>A (p.His1187Asn) c.3121C>A (p.His1041Asn) n.4389C>A | |
3 | g.47000312C= | CA1362363127 | NBEAL2 | c.4213C= (p.His1405=) c.4111C= (p.His1371=) c.2076C= c.685C= (p.His229=) c.4132C= (p.His1378=) c.4192C= (p.His1398=) c.3844C= (p.His1282=) c.3673C= (p.His1225=) c.3559C= (p.His1187=) c.3121C= (p.His1041=) n.4389C= | |
3 | g.47000312C>G | CA352517126 | NBEAL2 | c.4213C>G (p.His1405Asp) c.4111C>G (p.His1371Asp) c.2076C>G c.685C>G (p.His229Asp) c.4132C>G (p.His1378Asp) c.4192C>G (p.His1398Asp) c.3844C>G (p.His1282Asp) c.3673C>G (p.His1225Asp) c.3559C>G (p.His1187Asp) c.3121C>G (p.His1041Asp) n.4389C>G | |
3 | g.47000312C>T | CA352517127 | NBEAL2 | c.4213C>T (p.His1405Tyr) c.4111C>T (p.His1371Tyr) c.2076C>T c.685C>T (p.His229Tyr) c.4132C>T (p.His1378Tyr) c.4192C>T (p.His1398Tyr) c.3844C>T (p.His1282Tyr) c.3673C>T (p.His1225Tyr) c.3559C>T (p.His1187Tyr) c.3121C>T (p.His1041Tyr) n.4389C>T | dbSNP gnomAD v2 gnomAD v4 |
3 | g.47000313A= | CA1362363128 | NBEAL2 | c.4214A= (p.His1405=) c.4112A= (p.His1371=) c.2077A= c.686A= (p.His229=) c.4133A= (p.His1378=) c.4193A= (p.His1398=) c.3845A= (p.His1282=) c.3674A= (p.His1225=) c.3560A= (p.His1187=) c.3122A= (p.His1041=) n.4390A= | |
3 | g.47000313A>C | CA352517128 | NBEAL2 | c.4214A>C (p.His1405Pro) c.4112A>C (p.His1371Pro) c.2077A>C c.686A>C (p.His229Pro) c.4133A>C (p.His1378Pro) c.4193A>C (p.His1398Pro) c.3845A>C (p.His1282Pro) c.3674A>C (p.His1225Pro) c.3560A>C (p.His1187Pro) c.3122A>C (p.His1041Pro) n.4390A>C | |
3 | g.47000313A>G | CA352517130 | NBEAL2 | c.4214A>G (p.His1405Arg) c.4112A>G (p.His1371Arg) c.2077A>G c.686A>G (p.His229Arg) c.4133A>G (p.His1378Arg) c.4193A>G (p.His1398Arg) c.3845A>G (p.His1282Arg) c.3674A>G (p.His1225Arg) c.3560A>G (p.His1187Arg) c.3122A>G (p.His1041Arg) n.4390A>G | dbSNP gnomAD v2 gnomAD v4 |
3 | g.47000313A>T | CA352517129 | NBEAL2 | c.4214A>T (p.His1405Leu) c.4112A>T (p.His1371Leu) c.2077A>T c.686A>T (p.His229Leu) c.4133A>T (p.His1378Leu) c.4193A>T (p.His1398Leu) c.3845A>T (p.His1282Leu) c.3674A>T (p.His1225Leu) c.3560A>T (p.His1187Leu) c.3122A>T (p.His1041Leu) n.4390A>T | |
3 | g.47000314C>A | CA352517131 | NBEAL2 | c.4215C>A (p.His1405Gln) c.4113C>A (p.His1371Gln) c.2078C>A c.687C>A (p.His229Gln) c.4134C>A (p.His1378Gln) c.4194C>A (p.His1398Gln) c.3846C>A (p.His1282Gln) c.3675C>A (p.His1225Gln) c.3561C>A (p.His1187Gln) c.3123C>A (p.His1041Gln) n.4391C>A | |
3 | g.47000314C>G | CA352517132 | NBEAL2 | c.4215C>G (p.His1405Gln) c.4113C>G (p.His1371Gln) c.2078C>G c.687C>G (p.His229Gln) c.4134C>G (p.His1378Gln) c.4194C>G (p.His1398Gln) c.3846C>G (p.His1282Gln) c.3675C>G (p.His1225Gln) c.3561C>G (p.His1187Gln) c.3123C>G (p.His1041Gln) n.4391C>G | |
3 | g.47000314C>T | CA433598370 | NBEAL2 | c.4215C>T (p.His1405=) c.4113C>T (p.His1371=) c.2078C>T c.687C>T (p.His229=) c.4134C>T (p.His1378=) c.4194C>T (p.His1398=) c.3846C>T (p.His1282=) c.3675C>T (p.His1225=) c.3561C>T (p.His1187=) c.3123C>T (p.His1041=) n.4391C>T | |
3 | g.47000315A>C | CA352517133 | NBEAL2 | c.4216A>C (p.Ser1406Arg) c.4114A>C (p.Ser1372Arg) c.2079A>C c.688A>C (p.Ser230Arg) c.4135A>C (p.Ser1379Arg) c.4195A>C (p.Ser1399Arg) c.3847A>C (p.Ser1283Arg) c.3676A>C (p.Ser1226Arg) c.3562A>C (p.Ser1188Arg) c.3124A>C (p.Ser1042Arg) n.4392A>C | |
3 | g.47000315A>G | CA352517134 | NBEAL2 | c.4216A>G (p.Ser1406Gly) c.4114A>G (p.Ser1372Gly) c.2079A>G c.688A>G (p.Ser230Gly) c.4135A>G (p.Ser1379Gly) c.4195A>G (p.Ser1399Gly) c.3847A>G (p.Ser1283Gly) c.3676A>G (p.Ser1226Gly) c.3562A>G (p.Ser1188Gly) c.3124A>G (p.Ser1042Gly) n.4392A>G | |
3 | g.47000315A>T | CA352517135 | NBEAL2 | c.4216A>T (p.Ser1406Cys) c.4114A>T (p.Ser1372Cys) c.2079A>T c.688A>T (p.Ser230Cys) c.4135A>T (p.Ser1379Cys) c.4195A>T (p.Ser1399Cys) c.3847A>T (p.Ser1283Cys) c.3676A>T (p.Ser1226Cys) c.3562A>T (p.Ser1188Cys) c.3124A>T (p.Ser1042Cys) n.4392A>T | COSMIC COSMIC |
3 | g.47000316G>A | CA352517136 | NBEAL2 | c.4217G>A (p.Ser1406Asn) c.4115G>A (p.Ser1372Asn) c.2080G>A c.689G>A (p.Ser230Asn) c.4136G>A (p.Ser1379Asn) c.4196G>A (p.Ser1399Asn) c.3848G>A (p.Ser1283Asn) c.3677G>A (p.Ser1226Asn) c.3563G>A (p.Ser1188Asn) c.3125G>A (p.Ser1042Asn) n.4393G>A | |
3 | g.47000316G>C | CA352517137 | NBEAL2 | c.4217G>C (p.Ser1406Thr) c.4115G>C (p.Ser1372Thr) c.2080G>C c.689G>C (p.Ser230Thr) c.4136G>C (p.Ser1379Thr) c.4196G>C (p.Ser1399Thr) c.3848G>C (p.Ser1283Thr) c.3677G>C (p.Ser1226Thr) c.3563G>C (p.Ser1188Thr) c.3125G>C (p.Ser1042Thr) n.4393G>C | |
3 | g.47000316G>T | CA352517138 | NBEAL2 | c.4217G>T (p.Ser1406Ile) c.4115G>T (p.Ser1372Ile) c.2080G>T c.689G>T (p.Ser230Ile) c.4136G>T (p.Ser1379Ile) c.4196G>T (p.Ser1399Ile) c.3848G>T (p.Ser1283Ile) c.3677G>T (p.Ser1226Ile) c.3563G>T (p.Ser1188Ile) c.3125G>T (p.Ser1042Ile) n.4393G>T | ClinVar |
3 | g.47000317C>A | CA352517139 | NBEAL2 | c.4218C>A (p.Ser1406Arg) c.4116C>A (p.Ser1372Arg) c.2081C>A c.690C>A (p.Ser230Arg) c.4137C>A (p.Ser1379Arg) c.4197C>A (p.Ser1399Arg) c.3849C>A (p.Ser1283Arg) c.3678C>A (p.Ser1226Arg) c.3564C>A (p.Ser1188Arg) c.3126C>A (p.Ser1042Arg) n.4394C>A | |
3 | g.47000317C= | CA1362363129 | NBEAL2 | c.4218C= (p.Ser1406=) c.4116C= (p.Ser1372=) c.2081C= c.690C= (p.Ser230=) c.4137C= (p.Ser1379=) c.4197C= (p.Ser1399=) c.3849C= (p.Ser1283=) c.3678C= (p.Ser1226=) c.3564C= (p.Ser1188=) c.3126C= (p.Ser1042=) n.4394C= | |
3 | g.47000317C>G | CA352517140 | NBEAL2 | c.4218C>G (p.Ser1406Arg) c.4116C>G (p.Ser1372Arg) c.2081C>G c.690C>G (p.Ser230Arg) c.4137C>G (p.Ser1379Arg) c.4197C>G (p.Ser1399Arg) c.3849C>G (p.Ser1283Arg) c.3678C>G (p.Ser1226Arg) c.3564C>G (p.Ser1188Arg) c.3126C>G (p.Ser1042Arg) n.4394C>G | gnomAD v4 |
3 | g.47000317C>T | CA2361176 | NBEAL2 | c.4218C>T (p.Ser1406=) c.4116C>T (p.Ser1372=) c.2081C>T c.690C>T (p.Ser230=) c.4137C>T (p.Ser1379=) c.4197C>T (p.Ser1399=) c.3849C>T (p.Ser1283=) c.3678C>T (p.Ser1226=) c.3564C>T (p.Ser1188=) c.3126C>T (p.Ser1042=) n.4394C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.47000318T>A | CA352517141 | NBEAL2 | c.4219T>A (p.Ser1407Thr) c.4117T>A (p.Ser1373Thr) c.2082T>A c.691T>A (p.Ser231Thr) c.4138T>A (p.Ser1380Thr) c.4198T>A (p.Ser1400Thr) c.3850T>A (p.Ser1284Thr) c.3679T>A (p.Ser1227Thr) c.3565T>A (p.Ser1189Thr) c.3127T>A (p.Ser1043Thr) n.4395T>A | |
3 | g.47000318T>C | CA352517143 | NBEAL2 | c.4219T>C (p.Ser1407Pro) c.4117T>C (p.Ser1373Pro) c.2082T>C c.691T>C (p.Ser231Pro) c.4138T>C (p.Ser1380Pro) c.4198T>C (p.Ser1400Pro) c.3850T>C (p.Ser1284Pro) c.3679T>C (p.Ser1227Pro) c.3565T>C (p.Ser1189Pro) c.3127T>C (p.Ser1043Pro) n.4395T>C | |
3 | g.47000318T>G | CA352517142 | NBEAL2 | c.4219T>G (p.Ser1407Ala) c.4117T>G (p.Ser1373Ala) c.2082T>G c.691T>G (p.Ser231Ala) c.4138T>G (p.Ser1380Ala) c.4198T>G (p.Ser1400Ala) c.3850T>G (p.Ser1284Ala) c.3679T>G (p.Ser1227Ala) c.3565T>G (p.Ser1189Ala) c.3127T>G (p.Ser1043Ala) n.4395T>G | |
3 | g.47000319C>A | CA352517144 | NBEAL2 | c.4220C>A (p.Ser1407Tyr) c.4118C>A (p.Ser1373Tyr) c.2083C>A c.692C>A (p.Ser231Tyr) c.4139C>A (p.Ser1380Tyr) c.4199C>A (p.Ser1400Tyr) c.3851C>A (p.Ser1284Tyr) c.3680C>A (p.Ser1227Tyr) c.3566C>A (p.Ser1189Tyr) c.3128C>A (p.Ser1043Tyr) n.4396C>A | COSMIC COSMIC |
3 | g.47000319C= | CA1362363130 | NBEAL2 | c.4220C= (p.Ser1407=) c.4118C= (p.Ser1373=) c.2083C= c.692C= (p.Ser231=) c.4139C= (p.Ser1380=) c.4199C= (p.Ser1400=) c.3851C= (p.Ser1284=) c.3680C= (p.Ser1227=) c.3566C= (p.Ser1189=) c.3128C= (p.Ser1043=) n.4396C= | |
3 | g.47000319C>G | CA352517145 | NBEAL2 | c.4220C>G (p.Ser1407Cys) c.4118C>G (p.Ser1373Cys) c.2083C>G c.692C>G (p.Ser231Cys) c.4139C>G (p.Ser1380Cys) c.4199C>G (p.Ser1400Cys) c.3851C>G (p.Ser1284Cys) c.3680C>G (p.Ser1227Cys) c.3566C>G (p.Ser1189Cys) c.3128C>G (p.Ser1043Cys) n.4396C>G | |
3 | g.47000319C>T | CA352517146 | NBEAL2 | c.4220C>T (p.Ser1407Phe) c.4118C>T (p.Ser1373Phe) c.2083C>T c.692C>T (p.Ser231Phe) c.4139C>T (p.Ser1380Phe) c.4199C>T (p.Ser1400Phe) c.3851C>T (p.Ser1284Phe) c.3680C>T (p.Ser1227Phe) c.3566C>T (p.Ser1189Phe) c.3128C>T (p.Ser1043Phe) n.4396C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.47000320C>A | CA433598374 | NBEAL2 | c.4221C>A (p.Ser1407=) c.4119C>A (p.Ser1373=) c.2084C>A c.693C>A (p.Ser231=) c.4140C>A (p.Ser1380=) c.4200C>A (p.Ser1400=) c.3852C>A (p.Ser1284=) c.3681C>A (p.Ser1227=) c.3567C>A (p.Ser1189=) c.3129C>A (p.Ser1043=) n.4397C>A | |
3 | g.47000320C= | CA1362363131 | NBEAL2 | c.4221C= (p.Ser1407=) c.4119C= (p.Ser1373=) c.2084C= c.693C= (p.Ser231=) c.4140C= (p.Ser1380=) c.4200C= (p.Ser1400=) c.3852C= (p.Ser1284=) c.3681C= (p.Ser1227=) c.3567C= (p.Ser1189=) c.3129C= (p.Ser1043=) n.4397C= | |
3 | g.47000320C>G | CA433598375 | NBEAL2 | c.4221C>G (p.Ser1407=) c.4119C>G (p.Ser1373=) c.2084C>G c.693C>G (p.Ser231=) c.4140C>G (p.Ser1380=) c.4200C>G (p.Ser1400=) c.3852C>G (p.Ser1284=) c.3681C>G (p.Ser1227=) c.3567C>G (p.Ser1189=) c.3129C>G (p.Ser1043=) n.4397C>G | |
3 | g.47000320C>T | CA433598376 | NBEAL2 | c.4221C>T (p.Ser1407=) c.4119C>T (p.Ser1373=) c.2084C>T c.693C>T (p.Ser231=) c.4140C>T (p.Ser1380=) c.4200C>T (p.Ser1400=) c.3852C>T (p.Ser1284=) c.3681C>T (p.Ser1227=) c.3567C>T (p.Ser1189=) c.3129C>T (p.Ser1043=) n.4397C>T | dbSNP |
3 | g.47000321A= | CA1362363132 | NBEAL2 | c.4222A= (p.Ser1408=) c.4120A= (p.Ser1374=) c.2085A= c.694A= (p.Ser232=) c.4141A= (p.Ser1381=) c.4201A= (p.Ser1401=) c.3853A= (p.Ser1285=) c.3682A= (p.Ser1228=) c.3568A= (p.Ser1190=) c.3130A= (p.Ser1044=) n.4398A= | |
3 | g.47000321A>C | CA352517147 | NBEAL2 | c.4222A>C (p.Ser1408Arg) c.4120A>C (p.Ser1374Arg) c.2085A>C c.694A>C (p.Ser232Arg) c.4141A>C (p.Ser1381Arg) c.4201A>C (p.Ser1401Arg) c.3853A>C (p.Ser1285Arg) c.3682A>C (p.Ser1228Arg) c.3568A>C (p.Ser1190Arg) c.3130A>C (p.Ser1044Arg) n.4398A>C | dbSNP |
3 | g.47000321A>G | CA352517148 | NBEAL2 | c.4222A>G (p.Ser1408Gly) c.4120A>G (p.Ser1374Gly) c.2085A>G c.694A>G (p.Ser232Gly) c.4141A>G (p.Ser1381Gly) c.4201A>G (p.Ser1401Gly) c.3853A>G (p.Ser1285Gly) c.3682A>G (p.Ser1228Gly) c.3568A>G (p.Ser1190Gly) c.3130A>G (p.Ser1044Gly) n.4398A>G | |
3 | g.47000321A>T | CA352517149 | NBEAL2 | c.4222A>T (p.Ser1408Cys) c.4120A>T (p.Ser1374Cys) c.2085A>T c.694A>T (p.Ser232Cys) c.4141A>T (p.Ser1381Cys) c.4201A>T (p.Ser1401Cys) c.3853A>T (p.Ser1285Cys) c.3682A>T (p.Ser1228Cys) c.3568A>T (p.Ser1190Cys) c.3130A>T (p.Ser1044Cys) n.4398A>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.47000322G>A | CA352517150 | NBEAL2 | c.4223G>A (p.Ser1408Asn) c.4121G>A (p.Ser1374Asn) c.2086G>A c.695G>A (p.Ser232Asn) c.4142G>A (p.Ser1381Asn) c.4202G>A (p.Ser1401Asn) c.3854G>A (p.Ser1285Asn) c.3683G>A (p.Ser1228Asn) c.3569G>A (p.Ser1190Asn) c.3131G>A (p.Ser1044Asn) n.4399G>A | |
3 | g.47000322G>C | CA352517151 | NBEAL2 | c.4223G>C (p.Ser1408Thr) c.4121G>C (p.Ser1374Thr) c.2086G>C c.695G>C (p.Ser232Thr) c.4142G>C (p.Ser1381Thr) c.4202G>C (p.Ser1401Thr) c.3854G>C (p.Ser1285Thr) c.3683G>C (p.Ser1228Thr) c.3569G>C (p.Ser1190Thr) c.3131G>C (p.Ser1044Thr) n.4399G>C | |
3 | g.47000322G>T | CA352517152 | NBEAL2 | c.4223G>T (p.Ser1408Ile) c.4121G>T (p.Ser1374Ile) c.2086G>T c.695G>T (p.Ser232Ile) c.4142G>T (p.Ser1381Ile) c.4202G>T (p.Ser1401Ile) c.3854G>T (p.Ser1285Ile) c.3683G>T (p.Ser1228Ile) c.3569G>T (p.Ser1190Ile) c.3131G>T (p.Ser1044Ile) n.4399G>T | |
3 | g.47000323T>A | CA352517153 | NBEAL2 | c.4224T>A (p.Ser1408Arg) c.4122T>A (p.Ser1374Arg) c.2087T>A c.696T>A (p.Ser232Arg) c.4143T>A (p.Ser1381Arg) c.4203T>A (p.Ser1401Arg) c.3855T>A (p.Ser1285Arg) c.3684T>A (p.Ser1228Arg) c.3570T>A (p.Ser1190Arg) c.3132T>A (p.Ser1044Arg) n.4400T>A | |
3 | g.47000323T>C | CA433598379 | NBEAL2 | c.4224T>C (p.Ser1408=) c.4122T>C (p.Ser1374=) c.2087T>C c.696T>C (p.Ser232=) c.4143T>C (p.Ser1381=) c.4203T>C (p.Ser1401=) c.3855T>C (p.Ser1285=) c.3684T>C (p.Ser1228=) c.3570T>C (p.Ser1190=) c.3132T>C (p.Ser1044=) n.4400T>C | gnomAD v4 |
3 | g.47000323T>G | CA352517154 | NBEAL2 | c.4224T>G (p.Ser1408Arg) c.4122T>G (p.Ser1374Arg) c.2087T>G c.696T>G (p.Ser232Arg) c.4143T>G (p.Ser1381Arg) c.4203T>G (p.Ser1401Arg) c.3855T>G (p.Ser1285Arg) c.3684T>G (p.Ser1228Arg) c.3570T>G (p.Ser1190Arg) c.3132T>G (p.Ser1044Arg) n.4400T>G | |
3 | g.47000324C>A | CA2361177 | NBEAL2 | c.4225C>A (p.Leu1409Ile) c.4123C>A (p.Leu1375Ile) c.2088C>A c.697C>A (p.Leu233Ile) c.4144C>A (p.Leu1382Ile) c.4204C>A (p.Leu1402Ile) c.3856C>A (p.Leu1286Ile) c.3685C>A (p.Leu1229Ile) c.3571C>A (p.Leu1191Ile) c.3133C>A (p.Leu1045Ile) n.4401C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.47000324C= | CA1362363133 | NBEAL2 | c.4225C= (p.Leu1409=) c.4123C= (p.Leu1375=) c.2088C= c.697C= (p.Leu233=) c.4144C= (p.Leu1382=) c.4204C= (p.Leu1402=) c.3856C= (p.Leu1286=) c.3685C= (p.Leu1229=) c.3571C= (p.Leu1191=) c.3133C= (p.Leu1045=) n.4401C= | |
3 | g.47000324C>G | CA352517156 | NBEAL2 | c.4225C>G (p.Leu1409Val) c.4123C>G (p.Leu1375Val) c.2088C>G c.697C>G (p.Leu233Val) c.4144C>G (p.Leu1382Val) c.4204C>G (p.Leu1402Val) c.3856C>G (p.Leu1286Val) c.3685C>G (p.Leu1229Val) c.3571C>G (p.Leu1191Val) c.3133C>G (p.Leu1045Val) n.4401C>G | |
3 | g.47000324C>T | CA352517155 | NBEAL2 | c.4225C>T (p.Leu1409Phe) c.4123C>T (p.Leu1375Phe) c.2088C>T c.697C>T (p.Leu233Phe) c.4144C>T (p.Leu1382Phe) c.4204C>T (p.Leu1402Phe) c.3856C>T (p.Leu1286Phe) c.3685C>T (p.Leu1229Phe) c.3571C>T (p.Leu1191Phe) c.3133C>T (p.Leu1045Phe) n.4401C>T | dbSNP |
3 | g.47000325T>A | CA352517157 | NBEAL2 | c.4226T>A (p.Leu1409His) c.4124T>A (p.Leu1375His) c.2089T>A c.698T>A (p.Leu233His) c.4145T>A (p.Leu1382His) c.4205T>A (p.Leu1402His) c.3857T>A (p.Leu1286His) c.3686T>A (p.Leu1229His) c.3572T>A (p.Leu1191His) c.3134T>A (p.Leu1045His) n.4402T>A | |
3 | g.47000325T>C | CA352517158 | NBEAL2 | c.4226T>C (p.Leu1409Pro) c.4124T>C (p.Leu1375Pro) c.2089T>C c.698T>C (p.Leu233Pro) c.4145T>C (p.Leu1382Pro) c.4205T>C (p.Leu1402Pro) c.3857T>C (p.Leu1286Pro) c.3686T>C (p.Leu1229Pro) c.3572T>C (p.Leu1191Pro) c.3134T>C (p.Leu1045Pro) n.4402T>C | |
3 | g.47000325T>G | CA352517159 | NBEAL2 | c.4226T>G (p.Leu1409Arg) c.4124T>G (p.Leu1375Arg) c.2089T>G c.698T>G (p.Leu233Arg) c.4145T>G (p.Leu1382Arg) c.4205T>G (p.Leu1402Arg) c.3857T>G (p.Leu1286Arg) c.3686T>G (p.Leu1229Arg) c.3572T>G (p.Leu1191Arg) c.3134T>G (p.Leu1045Arg) n.4402T>G | |
3 | g.47000326C>A | CA433598383 | NBEAL2 | c.4227C>A (p.Leu1409=) c.4125C>A (p.Leu1375=) c.2090C>A c.699C>A (p.Leu233=) c.4146C>A (p.Leu1382=) c.4206C>A (p.Leu1402=) c.3858C>A (p.Leu1286=) c.3687C>A (p.Leu1229=) c.3573C>A (p.Leu1191=) c.3135C>A (p.Leu1045=) n.4403C>A | gnomAD v4 |
3 | g.47000326C= | CA1362363134 | NBEAL2 | c.4227C= (p.Leu1409=) c.4125C= (p.Leu1375=) c.2090C= c.699C= (p.Leu233=) c.4146C= (p.Leu1382=) c.4206C= (p.Leu1402=) c.3858C= (p.Leu1286=) c.3687C= (p.Leu1229=) c.3573C= (p.Leu1191=) c.3135C= (p.Leu1045=) n.4403C= | |
3 | g.47000326C>G | CA2361178 | NBEAL2 | c.4227C>G (p.Leu1409=) c.4125C>G (p.Leu1375=) c.2090C>G c.699C>G (p.Leu233=) c.4146C>G (p.Leu1382=) c.4206C>G (p.Leu1402=) c.3858C>G (p.Leu1286=) c.3687C>G (p.Leu1229=) c.3573C>G (p.Leu1191=) c.3135C>G (p.Leu1045=) n.4403C>G | dbSNP ExAC gnomAD v2 |
3 | g.47000326C>T | CA433598384 | NBEAL2 | c.4227C>T (p.Leu1409=) c.4125C>T (p.Leu1375=) c.2090C>T c.699C>T (p.Leu233=) c.4146C>T (p.Leu1382=) c.4206C>T (p.Leu1402=) c.3858C>T (p.Leu1286=) c.3687C>T (p.Leu1229=) c.3573C>T (p.Leu1191=) c.3135C>T (p.Leu1045=) n.4403C>T | |
3 | g.47000327T>A | CA352517160 | NBEAL2 | c.4228T>A (p.Ser1410Thr) c.4126T>A (p.Ser1376Thr) c.2091T>A c.700T>A (p.Ser234Thr) c.4147T>A (p.Ser1383Thr) c.4207T>A (p.Ser1403Thr) c.3859T>A (p.Ser1287Thr) c.3688T>A (p.Ser1230Thr) c.3574T>A (p.Ser1192Thr) c.3136T>A (p.Ser1046Thr) n.4404T>A | |
3 | g.47000327T>C | CA352517161 | NBEAL2 | c.4228T>C (p.Ser1410Pro) c.4126T>C (p.Ser1376Pro) c.2091T>C c.700T>C (p.Ser234Pro) c.4147T>C (p.Ser1383Pro) c.4207T>C (p.Ser1403Pro) c.3859T>C (p.Ser1287Pro) c.3688T>C (p.Ser1230Pro) c.3574T>C (p.Ser1192Pro) c.3136T>C (p.Ser1046Pro) n.4404T>C | dbSNP gnomAD v4 |
3 | g.47000327T>G | CA352517162 | NBEAL2 | c.4228T>G (p.Ser1410Ala) c.4126T>G (p.Ser1376Ala) c.2091T>G c.700T>G (p.Ser234Ala) c.4147T>G (p.Ser1383Ala) c.4207T>G (p.Ser1403Ala) c.3859T>G (p.Ser1287Ala) c.3688T>G (p.Ser1230Ala) c.3574T>G (p.Ser1192Ala) c.3136T>G (p.Ser1046Ala) n.4404T>G | dbSNP gnomAD v2 gnomAD v4 |
3 | g.47000327T= | CA1362363135 | NBEAL2 | c.4228T= (p.Ser1410=) c.4126T= (p.Ser1376=) c.2091T= c.700T= (p.Ser234=) c.4147T= (p.Ser1383=) c.4207T= (p.Ser1403=) c.3859T= (p.Ser1287=) c.3688T= (p.Ser1230=) c.3574T= (p.Ser1192=) c.3136T= (p.Ser1046=) n.4404T= | |
3 | g.47000328C>A | CA352517163 | NBEAL2 | c.4229C>A (p.Ser1410Tyr) c.4127C>A (p.Ser1376Tyr) c.2092C>A c.701C>A (p.Ser234Tyr) c.4148C>A (p.Ser1383Tyr) c.4208C>A (p.Ser1403Tyr) c.3860C>A (p.Ser1287Tyr) c.3689C>A (p.Ser1230Tyr) c.3575C>A (p.Ser1192Tyr) c.3137C>A (p.Ser1046Tyr) n.4405C>A | |
3 | g.47000328C>G | CA352517164 | NBEAL2 | c.4229C>G (p.Ser1410Cys) c.4127C>G (p.Ser1376Cys) c.2092C>G c.701C>G (p.Ser234Cys) c.4148C>G (p.Ser1383Cys) c.4208C>G (p.Ser1403Cys) c.3860C>G (p.Ser1287Cys) c.3689C>G (p.Ser1230Cys) c.3575C>G (p.Ser1192Cys) c.3137C>G (p.Ser1046Cys) n.4405C>G | |
3 | g.47000328C>T | CA352517165 | NBEAL2 | c.4229C>T (p.Ser1410Phe) c.4127C>T (p.Ser1376Phe) c.2092C>T c.701C>T (p.Ser234Phe) c.4148C>T (p.Ser1383Phe) c.4208C>T (p.Ser1403Phe) c.3860C>T (p.Ser1287Phe) c.3689C>T (p.Ser1230Phe) c.3575C>T (p.Ser1192Phe) c.3137C>T (p.Ser1046Phe) n.4405C>T | |
3 | g.47000329C>A | CA433598386 | NBEAL2 | c.4230C>A (p.Ser1410=) c.4128C>A (p.Ser1376=) c.2093C>A c.702C>A (p.Ser234=) c.4149C>A (p.Ser1383=) c.4209C>A (p.Ser1403=) c.3861C>A (p.Ser1287=) c.3690C>A (p.Ser1230=) c.3576C>A (p.Ser1192=) c.3138C>A (p.Ser1046=) n.4406C>A | |
3 | g.47000329C>G | CA433598387 | NBEAL2 | c.4230C>G (p.Ser1410=) c.4128C>G (p.Ser1376=) c.2093C>G c.702C>G (p.Ser234=) c.4149C>G (p.Ser1383=) c.4209C>G (p.Ser1403=) c.3861C>G (p.Ser1287=) c.3690C>G (p.Ser1230=) c.3576C>G (p.Ser1192=) c.3138C>G (p.Ser1046=) n.4406C>G | |
3 | g.47000329C>T | CA433598388 | NBEAL2 | c.4230C>T (p.Ser1410=) c.4128C>T (p.Ser1376=) c.2093C>T c.702C>T (p.Ser234=) c.4149C>T (p.Ser1383=) c.4209C>T (p.Ser1403=) c.3861C>T (p.Ser1287=) c.3690C>T (p.Ser1230=) c.3576C>T (p.Ser1192=) c.3138C>T (p.Ser1046=) n.4406C>T | |
3 | g.47000330A>C | CA352517166 | NBEAL2 | c.4231A>C (p.Asn1411His) c.4129A>C (p.Asn1377His) c.2094A>C c.703A>C (p.Asn235His) c.4150A>C (p.Asn1384His) c.4210A>C (p.Asn1404His) c.3862A>C (p.Asn1288His) c.3691A>C (p.Asn1231His) c.3577A>C (p.Asn1193His) c.3139A>C (p.Asn1047His) n.4407A>C | |
3 | g.47000330A>G | CA352517167 | NBEAL2 | c.4231A>G (p.Asn1411Asp) c.4129A>G (p.Asn1377Asp) c.2094A>G c.703A>G (p.Asn235Asp) c.4150A>G (p.Asn1384Asp) c.4210A>G (p.Asn1404Asp) c.3862A>G (p.Asn1288Asp) c.3691A>G (p.Asn1231Asp) c.3577A>G (p.Asn1193Asp) c.3139A>G (p.Asn1047Asp) n.4407A>G | |
3 | g.47000330A>T | CA352517168 | NBEAL2 | c.4231A>T (p.Asn1411Tyr) c.4129A>T (p.Asn1377Tyr) c.2094A>T c.703A>T (p.Asn235Tyr) c.4150A>T (p.Asn1384Tyr) c.4210A>T (p.Asn1404Tyr) c.3862A>T (p.Asn1288Tyr) c.3691A>T (p.Asn1231Tyr) c.3577A>T (p.Asn1193Tyr) c.3139A>T (p.Asn1047Tyr) n.4407A>T | |
3 | g.47000331A= | CA1362363136 | NBEAL2 | c.4232A= (p.Asn1411=) c.4130A= (p.Asn1377=) c.2095A= c.704A= (p.Asn235=) c.4151A= (p.Asn1384=) c.4211A= (p.Asn1404=) c.3863A= (p.Asn1288=) c.3692A= (p.Asn1231=) c.3578A= (p.Asn1193=) c.3140A= (p.Asn1047=) n.4408A= | |
3 | g.47000331A>C | CA352517170 | NBEAL2 | c.4232A>C (p.Asn1411Thr) c.4130A>C (p.Asn1377Thr) c.2095A>C c.704A>C (p.Asn235Thr) c.4151A>C (p.Asn1384Thr) c.4211A>C (p.Asn1404Thr) c.3863A>C (p.Asn1288Thr) c.3692A>C (p.Asn1231Thr) c.3578A>C (p.Asn1193Thr) c.3140A>C (p.Asn1047Thr) n.4408A>C | |
3 | g.47000331A>G | CA352517171 | NBEAL2 | c.4232A>G (p.Asn1411Ser) c.4130A>G (p.Asn1377Ser) c.2095A>G c.704A>G (p.Asn235Ser) c.4151A>G (p.Asn1384Ser) c.4211A>G (p.Asn1404Ser) c.3863A>G (p.Asn1288Ser) c.3692A>G (p.Asn1231Ser) c.3578A>G (p.Asn1193Ser) c.3140A>G (p.Asn1047Ser) n.4408A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.47000331A>T | CA352517169 | NBEAL2 | c.4232A>T (p.Asn1411Ile) c.4130A>T (p.Asn1377Ile) c.2095A>T c.704A>T (p.Asn235Ile) c.4151A>T (p.Asn1384Ile) c.4211A>T (p.Asn1404Ile) c.3863A>T (p.Asn1288Ile) c.3692A>T (p.Asn1231Ile) c.3578A>T (p.Asn1193Ile) c.3140A>T (p.Asn1047Ile) n.4408A>T | |
3 | g.47000332T>A | CA352517173 | NBEAL2 | c.4233T>A (p.Asn1411Lys) c.4131T>A (p.Asn1377Lys) c.2096T>A c.705T>A (p.Asn235Lys) c.4152T>A (p.Asn1384Lys) c.4212T>A (p.Asn1404Lys) c.3864T>A (p.Asn1288Lys) c.3693T>A (p.Asn1231Lys) c.3579T>A (p.Asn1193Lys) c.3141T>A (p.Asn1047Lys) n.4409T>A | |
3 | g.47000332T>C | CA433598390 | NBEAL2 | c.4233T>C (p.Asn1411=) c.4131T>C (p.Asn1377=) c.2096T>C c.705T>C (p.Asn235=) c.4152T>C (p.Asn1384=) c.4212T>C (p.Asn1404=) c.3864T>C (p.Asn1288=) c.3693T>C (p.Asn1231=) c.3579T>C (p.Asn1193=) c.3141T>C (p.Asn1047=) n.4409T>C | dbSNP gnomAD v2 gnomAD v4 |
3 | g.47000332T>G | CA352517172 | NBEAL2 | c.4233T>G (p.Asn1411Lys) c.4131T>G (p.Asn1377Lys) c.2096T>G c.705T>G (p.Asn235Lys) c.4152T>G (p.Asn1384Lys) c.4212T>G (p.Asn1404Lys) c.3864T>G (p.Asn1288Lys) c.3693T>G (p.Asn1231Lys) c.3579T>G (p.Asn1193Lys) c.3141T>G (p.Asn1047Lys) n.4409T>G | |
3 | g.47000332T= | CA1362363137 | NBEAL2 | c.4233T= (p.Asn1411=) c.4131T= (p.Asn1377=) c.2096T= c.705T= (p.Asn235=) c.4152T= (p.Asn1384=) c.4212T= (p.Asn1404=) c.3864T= (p.Asn1288=) c.3693T= (p.Asn1231=) c.3579T= (p.Asn1193=) c.3141T= (p.Asn1047=) n.4409T= | |
3 | g.47000333G>A | CA352517175 | NBEAL2 | c.4234G>A (p.Val1412Met) c.4132G>A (p.Val1378Met) c.2097G>A c.706G>A (p.Val236Met) c.4153G>A (p.Val1385Met) c.4213G>A (p.Val1405Met) c.3865G>A (p.Val1289Met) c.3694G>A (p.Val1232Met) c.3580G>A (p.Val1194Met) c.3142G>A (p.Val1048Met) n.4410G>A | |
3 | g.47000333G>C | CA352517174 | NBEAL2 | c.4234G>C (p.Val1412Leu) c.4132G>C (p.Val1378Leu) c.2097G>C c.706G>C (p.Val236Leu) c.4153G>C (p.Val1385Leu) c.4213G>C (p.Val1405Leu) c.3865G>C (p.Val1289Leu) c.3694G>C (p.Val1232Leu) c.3580G>C (p.Val1194Leu) c.3142G>C (p.Val1048Leu) n.4410G>C | |
3 | g.47000333G>T | CA352517176 | NBEAL2 | c.4234G>T (p.Val1412Leu) c.4132G>T (p.Val1378Leu) c.2097G>T c.706G>T (p.Val236Leu) c.4153G>T (p.Val1385Leu) c.4213G>T (p.Val1405Leu) c.3865G>T (p.Val1289Leu) c.3694G>T (p.Val1232Leu) c.3580G>T (p.Val1194Leu) c.3142G>T (p.Val1048Leu) n.4410G>T | |
3 | g.47000334T>A | CA352517177 | NBEAL2 | c.4235T>A (p.Val1412Glu) c.4133T>A (p.Val1378Glu) c.2098T>A c.707T>A (p.Val236Glu) c.4154T>A (p.Val1385Glu) c.4214T>A (p.Val1405Glu) c.3866T>A (p.Val1289Glu) c.3695T>A (p.Val1232Glu) c.3581T>A (p.Val1194Glu) c.3143T>A (p.Val1048Glu) n.4411T>A | |
3 | g.47000334T>C | CA352517178 | NBEAL2 | c.4235T>C (p.Val1412Ala) c.4133T>C (p.Val1378Ala) c.2098T>C c.707T>C (p.Val236Ala) c.4154T>C (p.Val1385Ala) c.4214T>C (p.Val1405Ala) c.3866T>C (p.Val1289Ala) c.3695T>C (p.Val1232Ala) c.3581T>C (p.Val1194Ala) c.3143T>C (p.Val1048Ala) n.4411T>C | |
3 | g.47000334T>G | CA352517179 | NBEAL2 | c.4235T>G (p.Val1412Gly) c.4133T>G (p.Val1378Gly) c.2098T>G c.707T>G (p.Val236Gly) c.4154T>G (p.Val1385Gly) c.4214T>G (p.Val1405Gly) c.3866T>G (p.Val1289Gly) c.3695T>G (p.Val1232Gly) c.3581T>G (p.Val1194Gly) c.3143T>G (p.Val1048Gly) n.4411T>G | |
3 | g.47000335G>A | CA433598391 | NBEAL2 | c.4236G>A (p.Val1412=) c.4134G>A (p.Val1378=) c.2099G>A c.708G>A (p.Val236=) c.4155G>A (p.Val1385=) c.4215G>A (p.Val1405=) c.3867G>A (p.Val1289=) c.3696G>A (p.Val1232=) c.3582G>A (p.Val1194=) c.3144G>A (p.Val1048=) n.4412G>A | dbSNP gnomAD v4 |
3 | g.47000335G>C | CA433598392 | NBEAL2 | c.4236G>C (p.Val1412=) c.4134G>C (p.Val1378=) c.2099G>C c.708G>C (p.Val236=) c.4155G>C (p.Val1385=) c.4215G>C (p.Val1405=) c.3867G>C (p.Val1289=) c.3696G>C (p.Val1232=) c.3582G>C (p.Val1194=) c.3144G>C (p.Val1048=) n.4412G>C | |
3 | g.47000335G= | CA1362363138 | NBEAL2 | c.4236G= (p.Val1412=) c.4134G= (p.Val1378=) c.2099G= c.708G= (p.Val236=) c.4155G= (p.Val1385=) c.4215G= (p.Val1405=) c.3867G= (p.Val1289=) c.3696G= (p.Val1232=) c.3582G= (p.Val1194=) c.3144G= (p.Val1048=) n.4412G= | |
3 | g.47000335G>T | CA433598393 | NBEAL2 | c.4236G>T (p.Val1412=) c.4134G>T (p.Val1378=) c.2099G>T c.708G>T (p.Val236=) c.4155G>T (p.Val1385=) c.4215G>T (p.Val1405=) c.3867G>T (p.Val1289=) c.3696G>T (p.Val1232=) c.3582G>T (p.Val1194=) c.3144G>T (p.Val1048=) n.4412G>T | dbSNP gnomAD v2 gnomAD v4 |
3 | g.47000336C>A | CA352517180 | NBEAL2 | c.4237C>A (p.Leu1413Met) c.4135C>A (p.Leu1379Met) c.2100C>A c.709C>A (p.Leu237Met) c.4156C>A (p.Leu1386Met) c.4216C>A (p.Leu1406Met) c.3868C>A (p.Leu1290Met) c.3697C>A (p.Leu1233Met) c.3583C>A (p.Leu1195Met) c.3145C>A (p.Leu1049Met) n.4413C>A | |
3 | g.47000336C>G | CA352517181 | NBEAL2 | c.4237C>G (p.Leu1413Val) c.4135C>G (p.Leu1379Val) c.2100C>G c.709C>G (p.Leu237Val) c.4156C>G (p.Leu1386Val) c.4216C>G (p.Leu1406Val) c.3868C>G (p.Leu1290Val) c.3697C>G (p.Leu1233Val) c.3583C>G (p.Leu1195Val) c.3145C>G (p.Leu1049Val) n.4413C>G | gnomAD v4 |
3 | g.47000336C>T | CA433598395 | NBEAL2 | c.4237C>T (p.Leu1413=) c.4135C>T (p.Leu1379=) c.2100C>T c.709C>T (p.Leu237=) c.4156C>T (p.Leu1386=) c.4216C>T (p.Leu1406=) c.3868C>T (p.Leu1290=) c.3697C>T (p.Leu1233=) c.3583C>T (p.Leu1195=) c.3145C>T (p.Leu1049=) n.4413C>T | |
3 | g.47000337T>A | CA352517182 | NBEAL2 | c.4238T>A (p.Leu1413Gln) c.4136T>A (p.Leu1379Gln) c.2101T>A c.710T>A (p.Leu237Gln) c.4157T>A (p.Leu1386Gln) c.4217T>A (p.Leu1406Gln) c.3869T>A (p.Leu1290Gln) c.3698T>A (p.Leu1233Gln) c.3584T>A (p.Leu1195Gln) c.3146T>A (p.Leu1049Gln) n.4414T>A | |
3 | g.47000337T>C | CA2361179 | NBEAL2 | c.4238T>C (p.Leu1413Pro) c.4136T>C (p.Leu1379Pro) c.2101T>C c.710T>C (p.Leu237Pro) c.4157T>C (p.Leu1386Pro) c.4217T>C (p.Leu1406Pro) c.3869T>C (p.Leu1290Pro) c.3698T>C (p.Leu1233Pro) c.3584T>C (p.Leu1195Pro) c.3146T>C (p.Leu1049Pro) n.4414T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.47000337T>G | CA352517183 | NBEAL2 | c.4238T>G (p.Leu1413Arg) c.4136T>G (p.Leu1379Arg) c.2101T>G c.710T>G (p.Leu237Arg) c.4157T>G (p.Leu1386Arg) c.4217T>G (p.Leu1406Arg) c.3869T>G (p.Leu1290Arg) c.3698T>G (p.Leu1233Arg) c.3584T>G (p.Leu1195Arg) c.3146T>G (p.Leu1049Arg) n.4414T>G | |
3 | g.47000337T= | CA1362363139 | NBEAL2 | c.4238T= (p.Leu1413=) c.4136T= (p.Leu1379=) c.2101T= c.710T= (p.Leu237=) c.4157T= (p.Leu1386=) c.4217T= (p.Leu1406=) c.3869T= (p.Leu1290=) c.3698T= (p.Leu1233=) c.3584T= (p.Leu1195=) c.3146T= (p.Leu1049=) n.4414T= | |
3 | g.47000338G>A | CA433598396 | NBEAL2 | c.4239G>A (p.Leu1413=) c.4137G>A (p.Leu1379=) c.2102G>A c.711G>A (p.Leu237=) c.4158G>A (p.Leu1386=) c.4218G>A (p.Leu1406=) c.3870G>A (p.Leu1290=) c.3699G>A (p.Leu1233=) c.3585G>A (p.Leu1195=) c.3147G>A (p.Leu1049=) n.4415G>A | |
3 | g.47000338G>C | CA433598397 | NBEAL2 | c.4239G>C (p.Leu1413=) c.4137G>C (p.Leu1379=) c.2102G>C c.711G>C (p.Leu237=) c.4158G>C (p.Leu1386=) c.4218G>C (p.Leu1406=) c.3870G>C (p.Leu1290=) c.3699G>C (p.Leu1233=) c.3585G>C (p.Leu1195=) c.3147G>C (p.Leu1049=) n.4415G>C | |
3 | g.47000338G>T | CA433598398 | NBEAL2 | c.4239G>T (p.Leu1413=) c.4137G>T (p.Leu1379=) c.2102G>T c.711G>T (p.Leu237=) c.4158G>T (p.Leu1386=) c.4218G>T (p.Leu1406=) c.3870G>T (p.Leu1290=) c.3699G>T (p.Leu1233=) c.3585G>T (p.Leu1195=) c.3147G>T (p.Leu1049=) n.4415G>T | |
3 | g.47000339G>A | CA352517184 | NBEAL2 | c.4240G>A (p.Glu1414Lys) c.4138G>A (p.Glu1380Lys) c.2103G>A c.712G>A (p.Glu238Lys) c.4159G>A (p.Glu1387Lys) c.4219G>A (p.Glu1407Lys) c.3871G>A (p.Glu1291Lys) c.3700G>A (p.Glu1234Lys) c.3586G>A (p.Glu1196Lys) c.3148G>A (p.Glu1050Lys) n.4416G>A | gnomAD v4 |
3 | g.47000339G>C | CA352517185 | NBEAL2 | c.4240G>C (p.Glu1414Gln) c.4138G>C (p.Glu1380Gln) c.2103G>C c.712G>C (p.Glu238Gln) c.4159G>C (p.Glu1387Gln) c.4219G>C (p.Glu1407Gln) c.3871G>C (p.Glu1291Gln) c.3700G>C (p.Glu1234Gln) c.3586G>C (p.Glu1196Gln) c.3148G>C (p.Glu1050Gln) n.4416G>C | gnomAD v4 |
3 | g.47000339G>T | CA352517186 | NBEAL2 | c.4240G>T (p.Glu1414Ter) c.4138G>T (p.Glu1380Ter) c.2103G>T c.712G>T (p.Glu238Ter) c.4159G>T (p.Glu1387Ter) c.4219G>T (p.Glu1407Ter) c.3871G>T (p.Glu1291Ter) c.3700G>T (p.Glu1234Ter) c.3586G>T (p.Glu1196Ter) c.3148G>T (p.Glu1050Ter) n.4416G>T | |
3 | g.47000340A>C | CA352517189 | NBEAL2 | c.4241A>C (p.Glu1414Ala) c.4139A>C (p.Glu1380Ala) c.2104A>C c.713A>C (p.Glu238Ala) c.4160A>C (p.Glu1387Ala) c.4220A>C (p.Glu1407Ala) c.3872A>C (p.Glu1291Ala) c.3701A>C (p.Glu1234Ala) c.3587A>C (p.Glu1196Ala) c.3149A>C (p.Glu1050Ala) n.4417A>C | |
3 | g.47000340A>G | CA352517187 | NBEAL2 | c.4241A>G (p.Glu1414Gly) c.4139A>G (p.Glu1380Gly) c.2104A>G c.713A>G (p.Glu238Gly) c.4160A>G (p.Glu1387Gly) c.4220A>G (p.Glu1407Gly) c.3872A>G (p.Glu1291Gly) c.3701A>G (p.Glu1234Gly) c.3587A>G (p.Glu1196Gly) c.3149A>G (p.Glu1050Gly) n.4417A>G | |
3 | g.47000340A>T | CA352517188 | NBEAL2 | c.4241A>T (p.Glu1414Val) c.4139A>T (p.Glu1380Val) c.2104A>T c.713A>T (p.Glu238Val) c.4160A>T (p.Glu1387Val) c.4220A>T (p.Glu1407Val) c.3872A>T (p.Glu1291Val) c.3701A>T (p.Glu1234Val) c.3587A>T (p.Glu1196Val) c.3149A>T (p.Glu1050Val) n.4417A>T | |
3 | g.47000341G>A | CA433598402 | NBEAL2 | c.4242G>A (p.Glu1414=) c.4140G>A (p.Glu1380=) c.2105G>A c.714G>A (p.Glu238=) c.4161G>A (p.Glu1387=) c.4221G>A (p.Glu1407=) c.3873G>A (p.Glu1291=) c.3702G>A (p.Glu1234=) c.3588G>A (p.Glu1196=) c.3150G>A (p.Glu1050=) n.4418G>A | |
3 | g.47000341G>C | CA352517190 | NBEAL2 | c.4242G>C (p.Glu1414Asp) c.4140G>C (p.Glu1380Asp) c.2105G>C c.714G>C (p.Glu238Asp) c.4161G>C (p.Glu1387Asp) c.4221G>C (p.Glu1407Asp) c.3873G>C (p.Glu1291Asp) c.3702G>C (p.Glu1234Asp) c.3588G>C (p.Glu1196Asp) c.3150G>C (p.Glu1050Asp) n.4418G>C | |
3 | g.47000341G>T | CA352517191 | NBEAL2 | c.4242G>T (p.Glu1414Asp) c.4140G>T (p.Glu1380Asp) c.2105G>T c.714G>T (p.Glu238Asp) c.4161G>T (p.Glu1387Asp) c.4221G>T (p.Glu1407Asp) c.3873G>T (p.Glu1291Asp) c.3702G>T (p.Glu1234Asp) c.3588G>T (p.Glu1196Asp) c.3150G>T (p.Glu1050Asp) n.4418G>T |