NM_015175.3(NBEAL2):c.1197+115G>A
|
rs936185
|
0.97385
|
NM_015175.3(NBEAL2):c.2473+53_2473+54insA
|
rs11396344
|
0.94867
|
NM_015175.3(NBEAL2):c.556+154C>G
|
rs4282092
|
0.94837
|
NM_015175.3(NBEAL2):c.5302-13A>T
|
rs11928558
|
0.94785
|
NM_015175.3(NBEAL2):c.4305+267A>G
|
rs34344887
|
0.55254
|
NM_015175.3(NBEAL2):c.6560+31G>C
|
rs2305638
|
0.55153
|
NM_015175.3(NBEAL2):c.4911C>T (p.Ser1637=)
|
rs2305634
|
0.48105
|
NM_015175.3(NBEAL2):c.1033-28C>T
|
rs13066214
|
0.48036
|
NM_015175.3(NBEAL2):c.7135-104T>G
|
rs56217494
|
0.34787
|
NM_015175.3(NBEAL2):c.4995G>A (p.Val1665=)
|
rs2305635
|
0.34360
|
NM_015175.3(NBEAL2):c.1198-45C>T
|
rs749512
|
0.32111
|
NM_015175.3(NBEAL2):c.6801+21A>C
|
rs13081418
|
0.24157
|
NM_015175.3(NBEAL2):c.4783-24C>T
|
rs73075647
|
0.17209
|
NM_015175.3(NBEAL2):c.6161C>T (p.Ser2054Phe)
|
rs2305637
|
0.13655
|
NM_015175.3(NBEAL2):c.*179C>A
|
rs111271184
|
0.06795
|
NM_015175.3(NBEAL2):c.1353G>A (p.Pro451=)
|
rs115611407
|
0.06231
|
NM_015175.3(NBEAL2):c.*216A>G
|
rs2305640
|
0.04972
|
NM_015175.3(NBEAL2):c.6919+9T>C
|
rs3816531
|
0.04927
|
NM_015175.3(NBEAL2):c.6801+36G>A
|
rs35201996
|
0.04502
|
NM_015175.3(NBEAL2):c.1340G>A (p.Arg447His)
|
rs17079425
|
0.03601
|
NM_015175.3(NBEAL2):c.7507+6A>G
|
rs74418680
|
0.02879
|
NM_015175.3(NBEAL2):c.4484+44G>A
|
rs2305632
|
0.02875
|
NM_015175.3(NBEAL2):c.7335-44T>C
|
rs74447560
|
0.02793
|
NM_015175.3(NBEAL2):c.4704C>T (p.Asn1568=)
|
rs12489851
|
0.02789
|
NM_015175.3(NBEAL2):c.2445G>A (p.Ala815=)
|
rs116456978
|
0.01945
|
NM_015175.3(NBEAL2):c.*219A>C
|
rs1048808
|
0.01517
|
NM_015175.3(NBEAL2):c.5661A>C (p.Pro1887=)
|
rs140548682
|
0.01370
|
NM_015175.3(NBEAL2):c.1380G>A (p.Pro460=)
|
rs114363730
|
0.00928
|
NM_015175.3(NBEAL2):c.6318C>T (p.Tyr2106=)
|
rs141569354
|
0.00844
|
NM_015175.3(NBEAL2):c.4257G>A (p.Pro1419=)
|
rs116791394
|
0.00742
|
NM_015175.3(NBEAL2):c.7836G>A (p.Gln2612=)
|
rs72909849
|
0.00728
|
NM_015175.3(NBEAL2):c.4170G>A (p.Ser1390=)
|
rs139822454
|
0.00554
|
NM_015175.3(NBEAL2):c.3036C>T (p.Ser1012=)
|
rs139218926
|
0.00414
|
NM_015175.3(NBEAL2):c.2196G>A (p.Thr732=)
|
rs201880318
|
0.00393
|
NM_015175.3(NBEAL2):c.4306-4A>G
|
rs201229761
|
0.00393
|
NM_015175.3(NBEAL2):c.4485-8C>T
|
rs145760682
|
0.00350
|
NM_015175.3(NBEAL2):c.123C>G (p.Ser41=)
|
rs61734084
|
0.00344
|
NM_015175.3(NBEAL2):c.2356G>A (p.Ala786Thr)
|
rs116104760
|
0.00338
|
NM_015175.3(NBEAL2):c.6866G>A (p.Arg2289Gln)
|
rs181413143
|
0.00289
|
NM_015175.3(NBEAL2):c.5301+11C>T
|
rs201354947
|
0.00274
|
NM_015175.3(NBEAL2):c.5103C>T (p.Phe1701=)
|
rs199537643
|
0.00260
|
NM_015175.3(NBEAL2):c.2376G>A (p.Arg792=)
|
rs200489667
|
0.00251
|
NM_015175.3(NBEAL2):c.*333G>A
|
rs538183501
|
0.00200
|
NM_015175.3(NBEAL2):c.8230G>C (p.Gly2744Arg)
|
rs201641746
|
0.00197
|
NM_015175.3(NBEAL2):c.1038C>T (p.Tyr346=)
|
rs201015016
|
0.00196
|
NM_015175.3(NBEAL2):c.5600C>T (p.Thr1867Ile)
|
rs187699322
|
0.00172
|
NM_015175.3(NBEAL2):c.7658G>A (p.Gly2553Glu)
|
rs144664865
|
0.00166
|
NM_015175.3(NBEAL2):c.3384+5G>A
|
rs370559049
|
0.00156
|
NM_015175.3(NBEAL2):c.1634C>T (p.Ser545Leu)
|
rs201749187
|
0.00151
|
NM_015175.3(NBEAL2):c.*267G>C
|
rs769202844
|
0.00147
|
NM_015175.3(NBEAL2):c.6624C>T (p.Ser2208=)
|
rs200186016
|
0.00143
|
NM_015175.3(NBEAL2):c.7755A>C (p.Gly2585=)
|
rs186292946
|
0.00143
|
NM_015175.3(NBEAL2):c.4185G>A (p.Pro1395=)
|
rs115350407
|
0.00139
|
NM_015175.3(NBEAL2):c.3338C>T (p.Thr1113Met)
|
rs202071400
|
0.00133
|
NM_015175.3(NBEAL2):c.1948G>A (p.Gly650Arg)
|
rs201373710
|
0.00130
|
NM_015175.3(NBEAL2):c.384C>G (p.Gly128=)
|
rs113523265
|
0.00121
|
NM_015175.3(NBEAL2):c.7602+10G>A
|
rs201513299
|
0.00118
|
NM_015175.3(NBEAL2):c.872G>A (p.Gly291Asp)
|
rs200121105
|
0.00118
|
NM_015175.3(NBEAL2):c.5664C>T (p.Pro1888=)
|
rs375399942
|
0.00108
|
NM_015175.3(NBEAL2):c.1600C>T (p.Arg534Cys)
|
rs202209383
|
0.00102
|
NM_015175.3(NBEAL2):c.6023C>T (p.Thr2008Met)
|
rs201015564
|
0.00102
|
NM_015175.3(NBEAL2):c.6267C>G (p.Thr2089=)
|
rs111945488
|
0.00097
|
NM_015175.3(NBEAL2):c.5021G>A (p.Arg1674His)
|
rs200622688
|
0.00088
|
NM_015175.3(NBEAL2):c.1752G>A (p.Thr584=)
|
rs201359870
|
0.00081
|
NM_015175.3(NBEAL2):c.7589G>A (p.Arg2530Gln)
|
rs116247493
|
0.00075
|
NM_015175.3(NBEAL2):c.4029T>C (p.Asp1343=)
|
rs369906164
|
0.00073
|
NM_015175.3(NBEAL2):c.187C>T (p.Leu63=)
|
rs80105480
|
0.00066
|
NM_015175.3(NBEAL2):c.467G>A (p.Arg156His)
|
rs199797249
|
0.00065
|
NM_015175.3(NBEAL2):c.2375G>A (p.Arg792Gln)
|
rs140354422
|
0.00061
|
NM_015175.3(NBEAL2):c.6378C>T (p.Ile2126=)
|
rs187781607
|
0.00061
|
NM_015175.3(NBEAL2):c.6352G>A (p.Val2118Ile)
|
rs146270553
|
0.00056
|
NM_015175.3(NBEAL2):c.1635G>A (p.Ser545=)
|
rs371768924
|
0.00053
|
NM_015175.3(NBEAL2):c.1878C>A (p.Leu626=)
|
rs199533501
|
0.00053
|
NM_015175.3(NBEAL2):c.5460-13G>T
|
rs372705263
|
0.00053
|
NM_015175.3(NBEAL2):c.1392C>T (p.Thr464=)
|
rs373760839
|
0.00048
|
NM_015175.3(NBEAL2):c.5769G>A (p.Ser1923=)
|
rs200100160
|
0.00045
|
NM_015175.3(NBEAL2):c.1482G>C (p.Leu494=)
|
rs377485621
|
0.00043
|
NM_015175.3(NBEAL2):c.3387G>A (p.Ala1129=)
|
rs371065166
|
0.00038
|
NM_015175.3(NBEAL2):c.5277C>T (p.Arg1759=)
|
rs370969690
|
0.00032
|
NM_015175.3(NBEAL2):c.2557-5C>G
|
rs760228884
|
0.00031
|
NM_015175.3(NBEAL2):c.7602+12G>A
|
rs374154267
|
0.00031
|
NM_015175.3(NBEAL2):c.860A>C (p.Asp287Ala)
|
rs200666191
|
0.00030
|
NM_015175.3(NBEAL2):c.5980G>A (p.Asp1994Asn)
|
rs200060366
|
0.00028
|
NM_015175.3(NBEAL2):c.*155C>A
|
rs886058609
|
0.00026
|
NM_015175.3(NBEAL2):c.1351C>G (p.Pro451Ala)
|
rs368375664
|
0.00024
|
NM_015175.3(NBEAL2):c.5356A>T (p.Thr1786Ser)
|
rs373627201
|
0.00024
|
NM_015175.3(NBEAL2):c.544G>A (p.Ala182Thr)
|
rs745890949
|
0.00022
|
NM_015175.3(NBEAL2):c.2487G>A (p.Thr829=)
|
rs370670784
|
0.00021
|
NM_015175.3(NBEAL2):c.2505G>A (p.Glu835=)
|
rs202204936
|
0.00021
|
NM_015175.3(NBEAL2):c.6736G>A (p.Asp2246Asn)
|
rs372963074
|
0.00021
|
NM_015175.3(NBEAL2):c.1618C>T (p.Arg540Trp)
|
rs201777850
|
0.00020
|
NM_015175.3(NBEAL2):c.5688C>T (p.Leu1896=)
|
rs201985571
|
0.00020
|
NM_015175.3(NBEAL2):c.5864G>A (p.Arg1955His)
|
rs372422378
|
0.00020
|
NM_015175.3(NBEAL2):c.6375C>T (p.Pro2125=)
|
rs372864119
|
0.00020
|
NM_015175.3(NBEAL2):c.4367G>A (p.Arg1456His)
|
rs117340996
|
0.00019
|
NM_015175.3(NBEAL2):c.5335C>T (p.Arg1779Cys)
|
rs199944912
|
0.00019
|
NM_015175.3(NBEAL2):c.5662C>G (p.Pro1888Ala)
|
rs200641534
|
0.00019
|
NM_015175.3(NBEAL2):c.3373G>A (p.Asp1125Asn)
|
rs373444282
|
0.00017
|
NM_015175.3(NBEAL2):c.6880G>A (p.Glu2294Lys)
|
rs201342229
|
0.00017
|
NM_015175.3(NBEAL2):c.1613G>A (p.Arg538His)
|
rs368310677
|
0.00016
|
NM_015175.3(NBEAL2):c.5459+8G>A
|
rs747932446
|
0.00014
|
NM_015175.3(NBEAL2):c.597G>A (p.Leu199=)
|
rs199694703
|
0.00014
|
NM_015175.3(NBEAL2):c.6351C>T (p.Ala2117=)
|
rs374999762
|
0.00014
|
NM_015175.3(NBEAL2):c.2532G>A (p.Arg844=)
|
rs759157034
|
0.00013
|
NM_015175.3(NBEAL2):c.3308G>A (p.Arg1103Gln)
|
rs374012992
|
0.00013
|
NM_015175.3(NBEAL2):c.3252C>T (p.Asp1084=)
|
rs369409195
|
0.00012
|
NM_015175.3(NBEAL2):c.2062C>T (p.Arg688Cys)
|
rs201210287
|
0.00011
|
NM_015175.3(NBEAL2):c.2195C>T (p.Thr732Met)
|
rs376623029
|
0.00011
|
NM_015175.3(NBEAL2):c.3135G>A (p.Met1045Ile)
|
rs373596976
|
0.00010
|
NM_015175.3(NBEAL2):c.4211G>A (p.Arg1404His)
|
rs202066156
|
0.00010
|
NM_015175.3(NBEAL2):c.4246G>A (p.Gly1416Ser)
|
rs781701383
|
0.00010
|
NM_015175.3(NBEAL2):c.5381C>T (p.Thr1794Met)
|
rs146899838
|
0.00010
|
NM_015175.3(NBEAL2):c.6228C>T (p.Phe2076=)
|
rs377441319
|
0.00010
|
NM_015175.3(NBEAL2):c.7280G>A (p.Arg2427His)
|
rs199764240
|
0.00010
|
NM_015175.3(NBEAL2):c.8096G>A (p.Arg2699His)
|
rs376357238
|
0.00010
|
NM_015175.3(NBEAL2):c.*244C>G
|
rs886058610
|
0.00009
|
NM_015175.3(NBEAL2):c.1053G>A (p.Ala351=)
|
rs185057557
|
0.00009
|
NM_015175.3(NBEAL2):c.1871G>A (p.Arg624Gln)
|
rs374527787
|
0.00009
|
NM_015175.3(NBEAL2):c.3291G>A (p.Ala1097=)
|
rs369931526
|
0.00009
|
NM_015175.3(NBEAL2):c.4126A>G (p.Ser1376Gly)
|
rs369363563
|
0.00009
|
NM_015175.3(NBEAL2):c.4245C>T (p.Asp1415=)
|
rs371129706
|
0.00009
|
NM_015175.3(NBEAL2):c.6157C>T (p.Arg2053Cys)
|
rs768389780
|
0.00009
|
NM_015175.3(NBEAL2):c.7135-13C>T
|
rs767606190
|
0.00009
|
NM_015175.3(NBEAL2):c.690G>C (p.Leu230=)
|
rs181297174
|
0.00008
|
NM_015175.3(NBEAL2):c.*263C>T
|
rs886058611
|
0.00007
|
NM_015175.3(NBEAL2):c.1764G>A (p.Ala588=)
|
rs776191203
|
0.00007
|
NM_015175.3(NBEAL2):c.4669C>G (p.Leu1557Val)
|
rs534419583
|
0.00007
|
NM_015175.3(NBEAL2):c.4846G>A (p.Glu1616Lys)
|
rs779806471
|
0.00007
|
NM_015175.3(NBEAL2):c.7248G>A (p.Leu2416=)
|
rs749025670
|
0.00007
|
NM_015175.3(NBEAL2):c.1102G>A (p.Asp368Asn)
|
rs528681375
|
0.00006
|
NM_015175.3(NBEAL2):c.1134C>T (p.Asp378=)
|
rs367672629
|
0.00006
|
NM_015175.3(NBEAL2):c.4978C>T (p.Arg1660Cys)
|
rs142355538
|
0.00006
|
NM_015175.3(NBEAL2):c.7453C>T (p.Arg2485Trp)
|
rs748364740
|
0.00006
|
NM_015175.3(NBEAL2):c.4122C>T (p.Gly1374=)
|
rs759172927
|
0.00005
|
NM_015175.3(NBEAL2):c.5082C>T (p.Ser1694=)
|
rs753011888
|
0.00005
|
NM_015175.3(NBEAL2):c.6173T>C (p.Met2058Thr)
|
rs775803831
|
0.00005
|
NM_015175.3(NBEAL2):c.6212G>A (p.Arg2071His)
|
rs200204458
|
0.00005
|
NM_015175.3(NBEAL2):c.6723C>T (p.Asn2241=)
|
rs563986757
|
0.00005
|
NM_015175.3(NBEAL2):c.7922G>A (p.Arg2641Gln)
|
rs765996332
|
0.00005
|
NM_015175.3(NBEAL2):c.1212G>A (p.Glu404=)
|
rs769130047
|
0.00004
|
NM_015175.3(NBEAL2):c.1976G>A (p.Arg659Gln)
|
rs567205565
|
0.00004
|
NM_015175.3(NBEAL2):c.3210C>T (p.Arg1070=)
|
rs763972746
|
0.00004
|
NM_015175.3(NBEAL2):c.4000C>G (p.Pro1334Ala)
|
rs564781036
|
0.00004
|
NM_015175.3(NBEAL2):c.4169C>T (p.Ser1390Leu)
|
rs569206224
|
0.00004
|
NM_015175.3(NBEAL2):c.5866G>A (p.Val1956Met)
|
rs373495718
|
0.00004
|
NM_015175.3(NBEAL2):c.6178C>T (p.Arg2060Cys)
|
rs547933637
|
0.00004
|
NM_015175.3(NBEAL2):c.6993G>A (p.Gly2331=)
|
rs758526014
|
0.00004
|
NM_015175.3(NBEAL2):c.7407G>A (p.Pro2469=)
|
rs568006584
|
0.00004
|
NM_015175.3(NBEAL2):c.1762G>A (p.Ala588Thr)
|
rs766113174
|
0.00003
|
NM_015175.3(NBEAL2):c.2066G>A (p.Arg689Gln)
|
rs776893573
|
0.00003
|
NM_015175.3(NBEAL2):c.2556+12C>A
|
rs771441339
|
0.00003
|
NM_015175.3(NBEAL2):c.277G>A (p.Glu93Lys)
|
rs750925242
|
0.00003
|
NM_015175.3(NBEAL2):c.3184G>A (p.Val1062Ile)
|
rs775313250
|
0.00003
|
NM_015175.3(NBEAL2):c.4123G>A (p.Gly1375Ser)
|
rs771754714
|
0.00003
|
NM_015175.3(NBEAL2):c.4361C>T (p.Thr1454Met)
|
rs371607035
|
0.00003
|
NM_015175.3(NBEAL2):c.4676G>A (p.Arg1559His)
|
rs560621411
|
0.00003
|
NM_015175.3(NBEAL2):c.4789G>A (p.Ala1597Thr)
|
rs147659992
|
0.00003
|
NM_015175.3(NBEAL2):c.4979G>A (p.Arg1660His)
|
rs756124320
|
0.00003
|
NM_015175.3(NBEAL2):c.5900G>A (p.Arg1967Gln)
|
rs374748722
|
0.00003
|
NM_015175.3(NBEAL2):c.6258G>A (p.Ala2086=)
|
rs371080261
|
0.00003
|
NM_015175.3(NBEAL2):c.7602+9C>T
|
rs758985099
|
0.00003
|
NM_015175.3(NBEAL2):c.*225G>T
|
rs929264011
|
0.00002
|
NM_015175.3(NBEAL2):c.*375T>G
|
rs1054994315
|
0.00002
|
NM_015175.3(NBEAL2):c.1344C>T (p.Asn448=)
|
rs763174968
|
0.00002
|
NM_015175.3(NBEAL2):c.165C>T (p.Val55=)
|
rs771661814
|
0.00002
|
NM_015175.3(NBEAL2):c.1687C>T (p.Arg563Cys)
|
rs527658542
|
0.00002
|
NM_015175.3(NBEAL2):c.1736G>A (p.Arg579His)
|
rs768701328
|
0.00002
|
NM_015175.3(NBEAL2):c.2231C>T (p.Pro744Leu)
|
rs375744996
|
0.00002
|
NM_015175.3(NBEAL2):c.2940C>T (p.Ile980=)
|
rs748390322
|
0.00002
|
NM_015175.3(NBEAL2):c.3087C>T (p.Leu1029=)
|
rs373998295
|
0.00002
|
NM_015175.3(NBEAL2):c.3108C>T (p.Ala1036=)
|
rs886058596
|
0.00002
|
NM_015175.3(NBEAL2):c.3529G>A (p.Asp1177Asn)
|
rs746255435
|
0.00002
|
NM_015175.3(NBEAL2):c.4532C>T (p.Ala1511Val)
|
rs886058600
|
0.00002
|
NM_015175.3(NBEAL2):c.6409G>A (p.Val2137Met)
|
rs377051387
|
0.00002
|
NM_015175.3(NBEAL2):c.6631G>A (p.Asp2211Asn)
|
rs781499875
|
0.00002
|
NM_015175.3(NBEAL2):c.6919+4G>T
|
rs769183186
|
0.00002
|
NM_015175.3(NBEAL2):c.*65A>G
|
rs538014431
|
0.00001
|
NM_015175.3(NBEAL2):c.1114-9C>T
|
rs375381261
|
0.00001
|
NM_015175.3(NBEAL2):c.1156A>G (p.Arg386Gly)
|
rs187629020
|
0.00001
|
NM_015175.3(NBEAL2):c.1367C>T (p.Ala456Val)
|
rs756484174
|
0.00001
|
NM_015175.3(NBEAL2):c.1393G>A (p.Ala465Thr)
|
rs746838327
|
0.00001
|
NM_015175.3(NBEAL2):c.168G>A (p.Pro56=)
|
rs188470343
|
0.00001
|
NM_015175.3(NBEAL2):c.1728T>G (p.Arg576=)
|
rs772273759
|
0.00001
|
NM_015175.3(NBEAL2):c.1860del (p.Ala621fs)
|
rs1235183015
|
0.00001
|
NM_015175.3(NBEAL2):c.1899-6C>T
|
rs775271035
|
0.00001
|
NM_015175.3(NBEAL2):c.1975C>T (p.Arg659Trp)
|
rs555487179
|
0.00001
|
NM_015175.3(NBEAL2):c.2473+7A>G
|
rs886058595
|
0.00001
|
NM_015175.3(NBEAL2):c.2486C>T (p.Thr829Met)
|
rs577957158
|
0.00001
|
NM_015175.3(NBEAL2):c.2887G>T (p.Gly963Cys)
|
rs368638331
|
0.00001
|
NM_015175.3(NBEAL2):c.2958+3G>A
|
rs901826862
|
0.00001
|
NM_015175.3(NBEAL2):c.3058T>C (p.Tyr1020His)
|
rs1362658024
|
0.00001
|
NM_015175.3(NBEAL2):c.3119-6G>A
|
rs771952228
|
0.00001
|
NM_015175.3(NBEAL2):c.3544-16G>A
|
rs757281502
|
0.00001
|
NM_015175.3(NBEAL2):c.3607C>T (p.Arg1203Trp)
|
rs769438781
|
0.00001
|
NM_015175.3(NBEAL2):c.3769C>T (p.Arg1257Cys)
|
rs746827784
|
0.00001
|
NM_015175.3(NBEAL2):c.3789+4A>C
|
rs768165695
|
0.00001
|
NM_015175.3(NBEAL2):c.379C>T (p.Arg127Ter)
|
rs1283560494
|
0.00001
|
NM_015175.3(NBEAL2):c.406C>T (p.Leu136=)
|
rs772350824
|
0.00001
|
NM_015175.3(NBEAL2):c.4459C>T (p.Arg1487Cys)
|
rs763635071
|
0.00001
|
NM_015175.3(NBEAL2):c.4485-1G>T
|
rs763842878
|
0.00001
|
NM_015175.3(NBEAL2):c.5202C>T (p.His1734=)
|
rs761277099
|
0.00001
|
NM_015175.3(NBEAL2):c.5497G>A (p.Glu1833Lys)
|
rs1341020147
|
0.00001
|
NM_015175.3(NBEAL2):c.6145T>C (p.Tyr2049His)
|
rs886058601
|
0.00001
|
NM_015175.3(NBEAL2):c.6657C>A (p.Phe2219Leu)
|
rs749279630
|
0.00001
|
NM_015175.3(NBEAL2):c.6806C>T (p.Ser2269Leu)
|
rs749896920
|
0.00001
|
NM_015175.3(NBEAL2):c.7134G>A (p.Glu2378=)
|
rs1320380958
|
0.00001
|
NM_015175.3(NBEAL2):c.7442A>G (p.Asp2481Gly)
|
rs886043642
|
0.00001
|
NM_015175.3(NBEAL2):c.7736T>C (p.Ile2579Thr)
|
rs778429939
|
0.00001
|
NM_015175.3(NBEAL2):c.907C>G (p.Leu303Val)
|
rs886058593
|
0.00001
|
NM_015175.2(NBEAL2):c.6920delG
|
rs948953674
|
|
NM_015175.3(NBEAL2):c.*104del
|
rs397708574
|
|
NM_015175.3(NBEAL2):c.*151dup
|
rs886058608
|
|
NM_015175.3(NBEAL2):c.*246T>C
|
rs1575635919
|
|
NM_015175.3(NBEAL2):c.*37C>G
|
rs886058607
|
|
NM_015175.3(NBEAL2):c.1049G>A (p.Arg350Gln)
|
|
|
NM_015175.3(NBEAL2):c.1052C>T (p.Ala351Val)
|
|
|
NM_015175.3(NBEAL2):c.1081A>G (p.Thr361Ala)
|
rs769842468
|
|
NM_015175.3(NBEAL2):c.1084C>T (p.Arg362Trp)
|
|
|
NM_015175.3(NBEAL2):c.1108C>G (p.Gln370Glu)
|
|
|
NM_015175.3(NBEAL2):c.1113+1G>A
|
rs778587914
|
|
NM_015175.3(NBEAL2):c.1122C>G (p.Asp374Glu)
|
|
|
NM_015175.3(NBEAL2):c.1147C>A (p.His383Asn)
|
|
|
NM_015175.3(NBEAL2):c.1163T>C (p.Leu388Pro)
|
rs387907113
|
|
NM_015175.3(NBEAL2):c.1198-210T>G
|
rs749511
|
|
NM_015175.3(NBEAL2):c.1271G>A (p.Arg424Gln)
|
rs768145657
|
|
NM_015175.3(NBEAL2):c.1339C>T (p.Arg447Cys)
|
|
|
NM_015175.3(NBEAL2):c.1360G>A (p.Val454Met)
|
|
|
NM_015175.3(NBEAL2):c.1370A>G (p.Gln457Arg)
|
|
|
NM_015175.3(NBEAL2):c.1376del (p.Leu459fs)
|
rs2107337553
|
|
NM_015175.3(NBEAL2):c.140+6G>T
|
|
|
NM_015175.3(NBEAL2):c.1416G>A (p.Ala472=)
|
|
|
NM_015175.3(NBEAL2):c.1476_1479dup (p.Leu494fs)
|
rs781366964
|
|
NM_015175.3(NBEAL2):c.148G>A (p.Glu50Lys)
|
|
|
NM_015175.3(NBEAL2):c.1495T>C (p.Leu499=)
|
|
|
NM_015175.3(NBEAL2):c.1531C>G (p.Arg511Gly)
|
rs11720139
|
|
NM_015175.3(NBEAL2):c.1532G>C (p.Arg511Pro)
|
rs770721155
|
|
NM_015175.3(NBEAL2):c.1574G>A (p.Arg525His)
|
|
|
NM_015175.3(NBEAL2):c.1625G>A (p.Gly542Glu)
|
|
|
NM_015175.3(NBEAL2):c.1663G>A (p.Ala555Thr)
|
|
|
NM_015175.3(NBEAL2):c.1688G>A (p.Arg563His)
|
|
|
NM_015175.3(NBEAL2):c.1725_1728dup (p.Ala577fs)
|
rs2036418481
|
|
NM_015175.3(NBEAL2):c.1751C>T (p.Thr584Met)
|
|
|
NM_015175.3(NBEAL2):c.1760T>C (p.Met587Thr)
|
|
|
NM_015175.3(NBEAL2):c.1783G>A (p.Val595Ile)
|
|
|
NM_015175.3(NBEAL2):c.1789C>T (p.Arg597Ter)
|
rs1172581672
|
|
NM_015175.3(NBEAL2):c.1790G>A (p.Arg597Gln)
|
|
|
NM_015175.3(NBEAL2):c.1793G>A (p.Trp598Ter)
|
rs1553659758
|
|
NM_015175.3(NBEAL2):c.1823G>A (p.Trp608Ter)
|
rs794726682
|
|
NM_015175.3(NBEAL2):c.1907C>T (p.Thr636Ile)
|
rs564164512
|
|
NM_015175.3(NBEAL2):c.1928A>T (p.Glu643Val)
|
rs387907114
|
|
NM_015175.3(NBEAL2):c.1933TTC[1] (p.Phe646del)
|
rs1203437621
|
|
NM_015175.3(NBEAL2):c.1973C>G (p.Thr658Arg)
|
|
|
NM_015175.3(NBEAL2):c.1985A>G (p.Tyr662Cys)
|
rs1171833737
|
|
NM_015175.3(NBEAL2):c.201C>G (p.Ala67=)
|
|
|
NM_015175.3(NBEAL2):c.2024C>T (p.Ser675Phe)
|
|
|
NM_015175.3(NBEAL2):c.2044A>T (p.Ile682Phe)
|
rs773164015
|
|
NM_015175.3(NBEAL2):c.2047G>A (p.Val683Ile)
|
|
|
NM_015175.3(NBEAL2):c.2090A>G (p.His697Arg)
|
|
|
NM_015175.3(NBEAL2):c.2103C>T (p.Asp701=)
|
rs377025153
|
|
NM_015175.3(NBEAL2):c.2151G>C (p.Glu717Asp)
|
rs2107346255
|
|
NM_015175.3(NBEAL2):c.2189G>A (p.Arg730His)
|
|
|
NM_015175.3(NBEAL2):c.2207C>A (p.Thr736Lys)
|
|
|
NM_015175.3(NBEAL2):c.2219C>A (p.Thr740Lys)
|
rs886058594
|
|
NM_015175.3(NBEAL2):c.2257G>A (p.Ala753Thr)
|
|
|
NM_015175.3(NBEAL2):c.2401G>A (p.Gly801Ser)
|
|
|
NM_015175.3(NBEAL2):c.2440C>G (p.Gln814Glu)
|
|
|
NM_015175.3(NBEAL2):c.2480A>G (p.Asn827Ser)
|
|
|
NM_015175.3(NBEAL2):c.250del (p.Leu84fs)
|
rs2035871619
|
|
NM_015175.3(NBEAL2):c.2537T>C (p.Leu846Pro)
|
rs1575602690
|
|
NM_015175.3(NBEAL2):c.2552C>T (p.Pro851Leu)
|
rs1320075072
|
|
NM_015175.3(NBEAL2):c.2650-1G>A
|
rs2036570687
|
|
NM_015175.3(NBEAL2):c.2686C>A (p.Leu896Met)
|
rs371538211
|
|
NM_015175.3(NBEAL2):c.2700G>A (p.Glu900=)
|
|
|
NM_015175.3(NBEAL2):c.2701C>T (p.Arg901Ter)
|
rs387907112
|
|
NM_015175.3(NBEAL2):c.2738C>T (p.Pro913Leu)
|
|
|
NM_015175.3(NBEAL2):c.2751dup (p.Asp918Ter)
|
rs2036579205
|
|
NM_015175.3(NBEAL2):c.2779G>A (p.Gly927Ser)
|
|
|
NM_015175.3(NBEAL2):c.277G>C (p.Glu93Gln)
|
|
|
NM_015175.3(NBEAL2):c.2787C>A (p.Asn929Lys)
|
|
|
NM_015175.3(NBEAL2):c.2789C>T (p.Thr930Ile)
|
|
|
NM_015175.3(NBEAL2):c.2843A>G (p.Asn948Ser)
|
|
|
NM_015175.3(NBEAL2):c.2855C>G (p.Ala952Gly)
|
|
|
NM_015175.3(NBEAL2):c.2929C>T (p.Pro977Ser)
|
|
|
NM_015175.3(NBEAL2):c.2953C>G (p.Arg985Gly)
|
|
|
NM_015175.3(NBEAL2):c.2954G>A (p.Arg985Gln)
|
|
|
NM_015175.3(NBEAL2):c.2986G>A (p.Val996Met)
|
|
|
NM_015175.3(NBEAL2):c.299G>A (p.Gly100Asp)
|
|
|
NM_015175.3(NBEAL2):c.3091A>G (p.Thr1031Ala)
|
|
|
NM_015175.3(NBEAL2):c.3106G>A (p.Ala1036Thr)
|
rs769080091
|
|
NM_015175.3(NBEAL2):c.3118+2T>G
|
rs1349443190
|
|
NM_015175.3(NBEAL2):c.3119-7C>T
|
|
|
NM_015175.3(NBEAL2):c.3158G>T (p.Arg1053Ile)
|
|
|
NM_015175.3(NBEAL2):c.3170G>C (p.Arg1057Pro)
|
rs371048264
|
|
NM_015175.3(NBEAL2):c.3253G>A (p.Asp1085Asn)
|
rs772177163
|
|
NM_015175.3(NBEAL2):c.3263C>T (p.Thr1088Ile)
|
|
|
NM_015175.3(NBEAL2):c.3297G>C (p.Glu1099Asp)
|
|
|
NM_015175.3(NBEAL2):c.3327C>T (p.Asp1109=)
|
rs143491739
|
|
NM_015175.3(NBEAL2):c.3379G>A (p.Gly1127Ser)
|
|
|
NM_015175.3(NBEAL2):c.3388G>A (p.Val1130Met)
|
|
|
NM_015175.3(NBEAL2):c.339G>C (p.Lys113Asn)
|
|
|
NM_015175.3(NBEAL2):c.3414C>T (p.Ala1138=)
|
rs886058597
|
|
NM_015175.3(NBEAL2):c.3443C>A (p.Ser1148Tyr)
|
|
|
NM_015175.3(NBEAL2):c.3502C>T (p.Arg1168Trp)
|
|
|
NM_015175.3(NBEAL2):c.3544-20C>A
|
rs1057523382
|
|
NM_015175.3(NBEAL2):c.3546C>G (p.Ile1182Met)
|
|
|
NM_015175.3(NBEAL2):c.3550C>A (p.Arg1184Ser)
|
|
|
NM_015175.3(NBEAL2):c.3583C>T (p.Arg1195Trp)
|
|
|
NM_015175.3(NBEAL2):c.3584G>A (p.Arg1195Gln)
|
|
|
NM_015175.3(NBEAL2):c.3592C>T (p.Gln1198Ter)
|
rs886041677
|
|
NM_015175.3(NBEAL2):c.3601C>T (p.Arg1201Trp)
|
|
|
NM_015175.3(NBEAL2):c.3649G>T (p.Gly1217Trp)
|
|
|
NM_015175.3(NBEAL2):c.368C>G (p.Pro123Arg)
|
rs371460227
|
|
NM_015175.3(NBEAL2):c.3693C>G (p.Phe1231Leu)
|
|
|
NM_015175.3(NBEAL2):c.3704-4C>A
|
|
|
NM_015175.3(NBEAL2):c.371C>T (p.Pro124Leu)
|
|
|
NM_015175.3(NBEAL2):c.3728T>C (p.Leu1243Pro)
|
rs753466927
|
|
NM_015175.3(NBEAL2):c.3766G>A (p.Val1256Ile)
|
|
|
NM_015175.3(NBEAL2):c.3773_3774insCAGCGTTCGCCTC (p.Asp1259fs)
|
|
|
NM_015175.3(NBEAL2):c.3774_3780delinsCAGCGTTCGCCTCAGA (p.Asp1259_Ile1260delinsSerValArgLeuArg)
|
rs2036808727
|
|
NM_015175.3(NBEAL2):c.3869G>A (p.Arg1290Gln)
|
|
|
NM_015175.3(NBEAL2):c.387G>A (p.Thr129=)
|
|
|
NM_015175.3(NBEAL2):c.3903C>A (p.Ser1301Arg)
|
|
|
NM_015175.3(NBEAL2):c.3907C>A (p.Pro1303Thr)
|
|
|
NM_015175.3(NBEAL2):c.3920del (p.Pro1307fs)
|
|
|
NM_015175.3(NBEAL2):c.402G>A (p.Val134=)
|
|
|
NM_015175.3(NBEAL2):c.4047C>A (p.Leu1349=)
|
|
|
NM_015175.3(NBEAL2):c.4073T>C (p.Leu1358Pro)
|
|
|
NM_015175.3(NBEAL2):c.4081G>T (p.Glu1361Ter)
|
rs1553663498
|
|
NM_015175.3(NBEAL2):c.4085G>A (p.Arg1362Gln)
|
rs781185845
|
|
NM_015175.3(NBEAL2):c.4117G>C (p.Gly1373Arg)
|
|
|
NM_015175.3(NBEAL2):c.4121G>A (p.Gly1374Asp)
|
rs886058598
|
|
NM_015175.3(NBEAL2):c.415C>T (p.Leu139=)
|
|
|
NM_015175.3(NBEAL2):c.4188G>A (p.Arg1396=)
|
|
|
NM_015175.3(NBEAL2):c.427G>A (p.Glu143Lys)
|
rs1001207491
|
|
NM_015175.3(NBEAL2):c.4306-15C>G
|
rs886058599
|
|
NM_015175.3(NBEAL2):c.4355C>T (p.Ser1452Leu)
|
|
|
NM_015175.3(NBEAL2):c.4362G>A (p.Thr1454=)
|
|
|
NM_015175.3(NBEAL2):c.4366C>T (p.Arg1456Cys)
|
|
|
NM_015175.3(NBEAL2):c.4371_4375dup (p.Glu1459fs)
|
|
|
NM_015175.3(NBEAL2):c.4372G>A (p.Val1458Met)
|
|
|
NM_015175.3(NBEAL2):c.4399C>T (p.Arg1467Trp)
|
|
|
NM_015175.3(NBEAL2):c.440A>G (p.Asp147Gly)
|
rs886058591
|
|
NM_015175.3(NBEAL2):c.441C>T (p.Asp147=)
|
rs2035909011
|
|
NM_015175.3(NBEAL2):c.4425G>C (p.Val1475=)
|
|
|
NM_015175.3(NBEAL2):c.4526A>G (p.Lys1509Arg)
|
rs2036970287
|
|
NM_015175.3(NBEAL2):c.4637G>A (p.Ser1546Asn)
|
|
|
NM_015175.3(NBEAL2):c.4654G>A (p.Gly1552Ser)
|
|
|
NM_015175.3(NBEAL2):c.4727T>C (p.Met1576Thr)
|
|
|
NM_015175.3(NBEAL2):c.4728G>A (p.Met1576Ile)
|
|
|
NM_015175.3(NBEAL2):c.474-4C>A
|
rs375726193
|
|
NM_015175.3(NBEAL2):c.474-4C>T
|
rs375726193
|
|
NM_015175.3(NBEAL2):c.4745G>A (p.Arg1582Gln)
|
|
|
NM_015175.3(NBEAL2):c.4759T>A (p.Tyr1587Asn)
|
|
|
NM_015175.3(NBEAL2):c.4786C>T (p.His1596Tyr)
|
|
|
NM_015175.3(NBEAL2):c.4840C>A (p.Arg1614Ser)
|
rs200608141
|
|
NM_015175.3(NBEAL2):c.4841G>A (p.Arg1614His)
|
rs186059483
|
|
NM_015175.3(NBEAL2):c.4843C>T (p.Arg1615Cys)
|
|
|
NM_015175.3(NBEAL2):c.4890del (p.Arg1631fs)
|
rs2037042664
|
|
NM_015175.3(NBEAL2):c.4928_4929del (p.Asp1643fs)
|
rs2037048154
|
|
NM_015175.3(NBEAL2):c.4949CAGCTGCAG[2] (p.Ala1656_Ala1658del)
|
rs535036383
|
|
NM_015175.3(NBEAL2):c.4949CAGCTGCAG[4] (p.Ala1658_Glu1659insAlaAlaAla)
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NM_015175.3(NBEAL2):c.4951G>A (p.Ala1651Thr)
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NM_015175.3(NBEAL2):c.5058C>G (p.Pro1686=)
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NM_015175.3(NBEAL2):c.5062C>T (p.Leu1688=)
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rs1213813201
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NM_015175.3(NBEAL2):c.5114G>A (p.Cys1705Tyr)
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NM_015175.3(NBEAL2):c.5125G>T (p.Glu1709Ter)
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NM_015175.3(NBEAL2):c.5132G>A (p.Arg1711His)
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NM_015175.3(NBEAL2):c.5186C>T (p.Thr1729Met)
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NM_015175.3(NBEAL2):c.5192C>T (p.Ala1731Val)
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NM_015175.3(NBEAL2):c.5204A>G (p.Asp1735Gly)
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NM_015175.3(NBEAL2):c.5211G>A (p.Met1737Ile)
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NM_015175.3(NBEAL2):c.5263C>A (p.Arg1755Ser)
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NM_015175.3(NBEAL2):c.5263C>T (p.Arg1755Cys)
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NM_015175.3(NBEAL2):c.5278G>A (p.Ala1760Thr)
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NM_015175.3(NBEAL2):c.5288G>A (p.Arg1763His)
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NM_015175.3(NBEAL2):c.5291G>A (p.Arg1764Gln)
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NM_015175.3(NBEAL2):c.5301+1G>A
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NM_015175.3(NBEAL2):c.5332G>A (p.Ala1778Thr)
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NM_015175.3(NBEAL2):c.5380A>T (p.Thr1794Ser)
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NM_015175.3(NBEAL2):c.5413G>A (p.Ala1805Thr)
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rs2037120735
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NM_015175.3(NBEAL2):c.5413dup (p.Ala1805fs)
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rs794726683
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NM_015175.3(NBEAL2):c.5422C>T (p.Arg1808Cys)
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NM_015175.3(NBEAL2):c.5431_5438del (p.Ala1811fs)
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rs2107413869
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NM_015175.3(NBEAL2):c.5476dup (p.Arg1826fs)
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rs2107416290
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NM_015175.3(NBEAL2):c.5477G>A (p.Arg1826His)
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NM_015175.3(NBEAL2):c.5502_5509del (p.Tyr1835fs)
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rs2107416663
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NM_015175.3(NBEAL2):c.5516G>A (p.Arg1839His)
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rs758124017
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NM_015175.3(NBEAL2):c.5534A>G (p.Asn1845Ser)
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NM_015175.3(NBEAL2):c.554A>G (p.Gln185Arg)
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NM_015175.3(NBEAL2):c.5607C>T (p.Thr1869=)
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NM_015175.3(NBEAL2):c.5608G>A (p.Glu1870Lys)
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NM_015175.3(NBEAL2):c.5657C>G (p.Thr1886Ser)
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NM_015175.3(NBEAL2):c.5745G>C (p.Glu1915Asp)
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NM_015175.3(NBEAL2):c.5777G>A (p.Cys1926Tyr)
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rs1575619957
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NM_015175.3(NBEAL2):c.5782C>G (p.Leu1928Val)
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NM_015175.3(NBEAL2):c.5794G>A (p.Val1932Met)
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NM_015175.3(NBEAL2):c.5854A>G (p.Ser1952Gly)
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NM_015175.3(NBEAL2):c.5874C>T (p.Thr1958=)
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rs138278141
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NM_015175.3(NBEAL2):c.5881+11G>A
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rs201179667
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NM_015175.3(NBEAL2):c.588C>T (p.Pro196=)
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NM_015175.3(NBEAL2):c.5935C>T (p.Arg1979Trp)
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rs771025246
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NM_015175.3(NBEAL2):c.6054C>G (p.Pro2018=)
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rs1079276
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NM_015175.3(NBEAL2):c.605T>G (p.Leu202Arg)
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rs1397926183
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NM_015175.3(NBEAL2):c.607dup (p.Ile203fs)
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rs1575592157
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NM_015175.3(NBEAL2):c.6101A>C (p.Gln2034Pro)
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NM_015175.3(NBEAL2):c.6165C>G (p.Pro2055=)
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rs201897629
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NM_015175.3(NBEAL2):c.6202T>C (p.Trp2068Arg)
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rs2037277207
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NM_015175.3(NBEAL2):c.6213T>G (p.Arg2071=)
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NM_015175.3(NBEAL2):c.6229G>C (p.Glu2077Gln)
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NM_015175.3(NBEAL2):c.6239T>A (p.Met2080Lys)
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rs1339171276
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NM_015175.3(NBEAL2):c.6257C>T (p.Ala2086Val)
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NM_015175.3(NBEAL2):c.6262C>T (p.Arg2088Trp)
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NM_015175.3(NBEAL2):c.6299C>T (p.Pro2100Leu)
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rs387907115
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NM_015175.3(NBEAL2):c.6319G>A (p.Val2107Met)
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NM_015175.3(NBEAL2):c.634G>A (p.Gly212Arg)
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rs886058592
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NM_015175.3(NBEAL2):c.6359G>A (p.Arg2120Gln)
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rs762258197
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NM_015175.3(NBEAL2):c.6400G>A (p.Ala2134Thr)
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NM_015175.3(NBEAL2):c.6404A>G (p.Gln2135Arg)
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rs886058602
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NM_015175.3(NBEAL2):c.6413G>A (p.Arg2138Lys)
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rs886058603
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NM_015175.3(NBEAL2):c.6432del (p.Phe2144fs)
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rs1575623114
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NM_015175.3(NBEAL2):c.6449C>G (p.Thr2150Ser)
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NM_015175.3(NBEAL2):c.6460T>C (p.Phe2154Leu)
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rs1575623184
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NM_015175.3(NBEAL2):c.6468T>A (p.Tyr2156Ter)
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rs2107437335
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NM_015175.3(NBEAL2):c.6561-5C>T
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NM_015175.3(NBEAL2):c.6568del (p.Cys2190fs)
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rs2037363765
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NM_015175.3(NBEAL2):c.6591G>C (p.Ser2197=)
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rs554449998
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NM_015175.3(NBEAL2):c.6651G>A (p.Pro2217=)
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NM_015175.3(NBEAL2):c.6656TCT[1] (p.Phe2220del)
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rs776748718
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NM_015175.3(NBEAL2):c.6691+3_6691+6dup
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rs557640338
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NM_015175.3(NBEAL2):c.6692-47dup
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rs5848810
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NM_015175.3(NBEAL2):c.6706T>G (p.Cys2236Gly)
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rs2037389157
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NM_015175.3(NBEAL2):c.6753G>A (p.Pro2251=)
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NM_015175.3(NBEAL2):c.6764C>T (p.Ser2255Phe)
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NM_015175.3(NBEAL2):c.6801+1G>C
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rs1285731171
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NM_015175.3(NBEAL2):c.682G>T (p.Gly228Cys)
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rs2036079664
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NM_015175.3(NBEAL2):c.6831C>T (p.His2277=)
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NM_015175.3(NBEAL2):c.6877G>A (p.Ala2293Thr)
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NM_015175.3(NBEAL2):c.6879C>T (p.Ala2293=)
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NM_015175.3(NBEAL2):c.6893A>G (p.Asn2298Ser)
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rs2107445568
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NM_015175.3(NBEAL2):c.6894T>A (p.Asn2298Lys)
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rs2037417315
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NM_015175.3(NBEAL2):c.6919+12G>A
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rs772599355
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NM_015175.3(NBEAL2):c.6920-1G>C
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rs2037428827
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NM_015175.3(NBEAL2):c.6959G>C (p.Arg2320Pro)
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rs377326649
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NM_015175.3(NBEAL2):c.7061G>A (p.Arg2354His)
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NM_015175.3(NBEAL2):c.7103dup (p.His2368fs)
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rs2107448208
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NM_015175.3(NBEAL2):c.7106T>C (p.Leu2369Pro)
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NM_015175.3(NBEAL2):c.7153C>T (p.Pro2385Ser)
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NM_015175.3(NBEAL2):c.7159G>C (p.Val2387Leu)
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NM_015175.3(NBEAL2):c.7177C>T (p.His2393Tyr)
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rs886058604
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NM_015175.3(NBEAL2):c.7180C>T (p.Arg2394Trp)
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NM_015175.3(NBEAL2):c.7192_7202dup (p.Gln2402fs)
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rs2037501401
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NM_015175.3(NBEAL2):c.7195_7197del (p.Phe2399del)
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rs2107452498
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NM_015175.3(NBEAL2):c.7208G>T (p.Gly2403Val)
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NM_015175.3(NBEAL2):c.7225-1G>C
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rs1575628744
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NM_015175.3(NBEAL2):c.7237G>A (p.Ala2413Thr)
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NM_015175.3(NBEAL2):c.725C>T (p.Pro242Leu)
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NM_015175.3(NBEAL2):c.7270C>T (p.Pro2424Ser)
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NM_015175.3(NBEAL2):c.7284del (p.Asn2428fs)
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rs2107453711
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NM_015175.3(NBEAL2):c.7329C>T (p.Ser2443=)
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rs1426292577
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NM_015175.3(NBEAL2):c.7337C>T (p.Thr2446Met)
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NM_015175.3(NBEAL2):c.7387C>T (p.Gln2463Ter)
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rs1575629721
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NM_015175.3(NBEAL2):c.7460_7461del (p.Thr2487fs)
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NM_015175.3(NBEAL2):c.7501C>T (p.His2501Tyr)
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rs1405730457
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NM_015175.3(NBEAL2):c.7506del (p.Asp2503fs)
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rs2037558268
|
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NM_015175.3(NBEAL2):c.7513G>A (p.Val2505Ile)
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rs886058605
|
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NM_015175.3(NBEAL2):c.7559G>A (p.Gly2520Asp)
|
rs2037574717
|
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NM_015175.3(NBEAL2):c.7564C>G (p.Arg2522Gly)
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rs772546336
|
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NM_015175.3(NBEAL2):c.7566G>C (p.Arg2522=)
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rs762908007
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NM_015175.3(NBEAL2):c.7585T>C (p.Trp2529Arg)
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NM_015175.3(NBEAL2):c.7616T>C (p.Val2539Ala)
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NM_015175.3(NBEAL2):c.7627C>G (p.Pro2543Ala)
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NM_015175.3(NBEAL2):c.7650T>G (p.Tyr2550Ter)
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NM_015175.3(NBEAL2):c.7748G>A (p.Arg2583His)
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rs374312429
|
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NM_015175.3(NBEAL2):c.7774C>T (p.Arg2592Trp)
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NM_015175.3(NBEAL2):c.7775G>A (p.Arg2592Gln)
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NM_015175.3(NBEAL2):c.7779_7781dup (p.Leu2594_Gly2595insLeu)
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NM_015175.3(NBEAL2):c.779T>C (p.Val260Ala)
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NM_015175.3(NBEAL2):c.7838T>C (p.Ile2613Thr)
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NM_015175.3(NBEAL2):c.7878+2T>A
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NM_015175.3(NBEAL2):c.7901A>G (p.Tyr2634Cys)
|
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NM_015175.3(NBEAL2):c.7923G>A (p.Arg2641=)
|
rs2037640069
|
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NM_015175.3(NBEAL2):c.792C>T (p.Ser264=)
|
rs2036088919
|
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NM_015175.3(NBEAL2):c.7937T>C (p.Leu2646Pro)
|
rs2037641398
|
|
NM_015175.3(NBEAL2):c.7980G>A (p.Val2660=)
|
rs1433248021
|
|
NM_015175.3(NBEAL2):c.8012T>A (p.Ile2671Asn)
|
rs2037648006
|
|
NM_015175.3(NBEAL2):c.8071C>A (p.Arg2691Ser)
|
|
|
NM_015175.3(NBEAL2):c.808G>A (p.Gly270Ser)
|
rs2036091159
|
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NM_015175.3(NBEAL2):c.8164-1G>A
|
rs2107465570
|
|
NM_015175.3(NBEAL2):c.8164-3C>G
|
rs886058606
|
|
NM_015175.3(NBEAL2):c.8168G>A (p.Arg2723His)
|
|
|
NM_015175.3(NBEAL2):c.8181C>G (p.Phe2727Leu)
|
|
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NM_015175.3(NBEAL2):c.8205G>T (p.Ser2735=)
|
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NM_015175.3(NBEAL2):c.821G>C (p.Arg274Pro)
|
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NM_015175.3(NBEAL2):c.8246A>G (p.Asn2749Ser)
|
|
|
NM_015175.3(NBEAL2):c.8264G>A (p.Ter2755=)
|
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NM_015175.3(NBEAL2):c.842T>G (p.Phe281Cys)
|
|
|
NM_015175.3(NBEAL2):c.881C>G (p.Ser294Ter)
|
rs372277612
|
|
NM_015175.3(NBEAL2):c.913G>A (p.Val305Ile)
|
rs1317847353
|
|
NM_015175.3(NBEAL2):c.925+5del
|
|
|
NM_015175.3(NBEAL2):c.940A>G (p.Met314Val)
|
|
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