NM_015175.3(NBEAL2):c.5302-13A>T
|
rs11928558
|
0.94785
|
NM_015175.3(NBEAL2):c.6560+31G>C
|
rs2305638
|
0.55153
|
NM_002658.6(PLAU):c.*141C>T
|
rs4065
|
0.51476
|
NM_002658.6(PLAU):c.*844del
|
rs2227574
|
0.50929
|
NM_002658.6(PLAU):c.681-7C>T
|
rs2227566
|
0.50640
|
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.4995G>A (p.Val1665=)
|
rs2305635
|
0.34360
|
NM_015175.3(NBEAL2):c.6801+21A>C
|
rs13081418
|
0.24157
|
NM_015175.3(NBEAL2):c.6161C>T (p.Ser2054Phe)
|
rs2305637
|
0.13655
|
NM_002658.6(PLAU):c.822C>T (p.Asn274=)
|
rs2227568
|
0.12381
|
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_002658.6(PLAU):c.691A>C (p.Lys231Gln)
|
rs2227567
|
0.04766
|
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.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_002658.6(PLAU):c.-18C>A
|
rs2227555
|
0.00948
|
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_002658.6(PLAU):c.-25C>T
|
rs2227579
|
0.00551
|
NM_002658.6(PLAU):c.172G>A (p.Gly58Arg)
|
rs55744193
|
0.00504
|
NM_002658.6(PLAU):c.1092C>T (p.Asp364=)
|
rs148333167
|
0.00419
|
NM_015175.3(NBEAL2):c.3036C>T (p.Ser1012=)
|
rs139218926
|
0.00414
|
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_002658.6(PLAU):c.*444T>A
|
rs145634997
|
0.00312
|
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_002658.6(PLAU):c.-20A>G
|
rs201591610
|
0.00241
|
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_002658.6(PLAU):c.*60A>C
|
rs142117323
|
0.00177
|
NM_015175.3(NBEAL2):c.7658G>A (p.Gly2553Glu)
|
rs144664865
|
0.00166
|
NM_002658.6(PLAU):c.162A>G (p.Pro54=)
|
rs142059320
|
0.00165
|
NM_015175.3(NBEAL2):c.3384+5G>A
|
rs370559049
|
0.00156
|
NM_015175.3(NBEAL2):c.*267G>C
|
rs769202844
|
0.00147
|
NM_002658.6(PLAU):c.*520G>T
|
rs117134857
|
0.00143
|
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.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.5021G>A (p.Arg1674His)
|
rs200622688
|
0.00088
|
NM_015175.3(NBEAL2):c.4029T>C (p.Asp1343=)
|
rs369906164
|
0.00073
|
NM_002658.6(PLAU):c.445C>T (p.His149Tyr)
|
rs117135013
|
0.00070
|
NM_002658.6(PLAU):c.878G>A (p.Arg293Gln)
|
rs546931331
|
0.00068
|
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_002658.6(PLAU):c.*355C>T
|
rs140559980
|
0.00056
|
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.5460-13G>T
|
rs372705263
|
0.00053
|
NM_001377304.1(GFI1B):c.503G>T (p.Cys168Phe)
|
rs527297896
|
0.00049
|
NM_015175.3(NBEAL2):c.5769G>A (p.Ser1923=)
|
rs200100160
|
0.00045
|
NM_002658.6(PLAU):c.*335G>A
|
rs185909762
|
0.00038
|
NM_015175.3(NBEAL2):c.5277C>T (p.Arg1759=)
|
rs370969690
|
0.00032
|
NM_002658.6(PLAU):c.1222G>A (p.Val408Ile)
|
rs200165551
|
0.00031
|
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.5356A>T (p.Thr1786Ser)
|
rs373627201
|
0.00024
|
NM_002658.6(PLAU):c.236G>A (p.Arg79Gln)
|
rs201299522
|
0.00022
|
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.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_002658.6(PLAU):c.*900A>G
|
rs886047213
|
0.00016
|
NM_015175.3(NBEAL2):c.1613G>A (p.Arg538His)
|
rs368310677
|
0.00016
|
NM_002658.6(PLAU):c.453C>T (p.Cys151=)
|
rs374267816
|
0.00014
|
NM_015175.3(NBEAL2):c.5459+8G>A
|
rs747932446
|
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_002658.6(PLAU):c.581C>T (p.Ala194Val)
|
rs145865648
|
0.00011
|
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_002658.6(PLAU):c.*753C>T
|
rs545559536
|
0.00010
|
NM_002658.6(PLAU):c.-32+9C>G
|
rs538342269
|
0.00010
|
NM_015175.3(NBEAL2):c.3135G>A (p.Met1045Ile)
|
rs373596976
|
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.7280G>A (p.Arg2427His)
|
rs199764240
|
0.00010
|
NM_015175.3(NBEAL2):c.8096G>A (p.Arg2699His)
|
rs376357238
|
0.00010
|
NM_002658.6(PLAU):c.111A>G (p.Gly37=)
|
rs200927138
|
0.00009
|
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_002658.6(PLAU):c.*266T>C
|
rs565576288
|
0.00008
|
NM_002658.6(PLAU):c.972C>T (p.Thr324=)
|
rs375950656
|
0.00008
|
NM_015175.3(NBEAL2):c.690G>C (p.Leu230=)
|
rs181297174
|
0.00008
|
NM_002658.6(PLAU):c.*921T>C
|
rs868098697
|
0.00007
|
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_001377304.1(GFI1B):c.550C>T (p.Arg184Cys)
|
rs771408008
|
0.00006
|
NM_002658.6(PLAU):c.706A>G (p.Ile236Val)
|
rs150389556
|
0.00006
|
NM_015175.3(NBEAL2):c.-178G>A
|
rs892777590
|
0.00006
|
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_002658.6(PLAU):c.*917G>A
|
rs879420957
|
0.00005
|
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.6723C>T (p.Asn2241=)
|
rs563986757
|
0.00005
|
NM_015175.3(NBEAL2):c.7922G>A (p.Arg2641Gln)
|
rs765996332
|
0.00005
|
NM_002658.6(PLAU):c.*52T>A
|
rs560674195
|
0.00004
|
NM_002658.6(PLAU):c.*631C>T
|
rs886047210
|
0.00004
|
NM_002658.6(PLAU):c.308C>T (p.Thr103Met)
|
rs370278611
|
0.00004
|
NM_002658.6(PLAU):c.845G>A (p.Arg282His)
|
rs34930250
|
0.00004
|
NM_015175.3(NBEAL2):c.-76G>A
|
rs886058588
|
0.00004
|
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.7407G>A (p.Pro2469=)
|
rs568006584
|
0.00004
|
NM_002658.6(PLAU):c.1053C>T (p.Tyr351=)
|
rs558920700
|
0.00003
|
NM_002658.6(PLAU):c.1193G>T (p.Arg398Leu)
|
rs3805118
|
0.00003
|
NM_002658.6(PLAU):c.163A>G (p.Lys55Glu)
|
rs147372618
|
0.00003
|
NM_002658.6(PLAU):c.368+6G>C
|
rs186447765
|
0.00003
|
NM_015175.3(NBEAL2):c.1762G>A (p.Ala588Thr)
|
rs766113174
|
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_001377304.1(GFI1B):c.551G>A (p.Arg184His)
|
rs570058270
|
0.00002
|
NM_001377304.1(GFI1B):c.568C>T (p.Arg190Trp)
|
rs144046935
|
0.00002
|
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.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_001377304.1(GFI1B):c.581G>A (p.Cys194Tyr)
|
rs753406078
|
0.00001
|
NM_001377304.1(GFI1B):c.923T>C (p.Leu308Pro)
|
rs775963992
|
0.00001
|
NM_002658.4(PLAU):c.*935A>G
|
rs886047214
|
0.00001
|
NM_002658.6(PLAU):c.*309T>C
|
rs1026194457
|
0.00001
|
NM_002658.6(PLAU):c.*474G>A
|
rs184153523
|
0.00001
|
NM_002658.6(PLAU):c.*880T>A
|
rs886047212
|
0.00001
|
NM_002658.6(PLAU):c.-32G>A
|
rs886047205
|
0.00001
|
NM_002658.6(PLAU):c.1229C>T (p.Thr410Met)
|
rs764252595
|
0.00001
|
NM_002658.6(PLAU):c.143T>A (p.Ile48Asn)
|
rs764051398
|
0.00001
|
NM_002658.6(PLAU):c.17C>A (p.Ala6Glu)
|
rs371106595
|
0.00001
|
NM_002658.6(PLAU):c.194A>G (p.Asp65Gly)
|
rs183208966
|
0.00001
|
NM_002658.6(PLAU):c.57+6T>C
|
rs770181188
|
0.00001
|
NM_002658.6(PLAU):c.602G>T (p.Arg201Leu)
|
rs549461157
|
0.00001
|
NM_015175.3(NBEAL2):c.*65A>G
|
rs538014431
|
0.00001
|
NM_015175.3(NBEAL2):c.-162C>T
|
rs886058587
|
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.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.3789+4A>C
|
rs768165695
|
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.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.7134G>A (p.Glu2378=)
|
rs1320380958
|
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
|
NC_000010.10:g.(?_75670858)_(75677260_?)dup
|
|
|
NC_000010.9:g.75329022_75406959dup
|
|
|
NM_001377304.1(GFI1B):c.230C>T (p.Pro77Leu)
|
|
|
NM_001377304.1(GFI1B):c.520A>G (p.Thr174Ala)
|
|
|
NM_001377304.1(GFI1B):c.521C>T (p.Thr174Ile)
|
rs376762177
|
|
NM_001377304.1(GFI1B):c.551G>C (p.Arg184Pro)
|
rs570058270
|
|
NM_001377304.1(GFI1B):c.648G>C (p.Gln216His)
|
|
|
NM_001377304.1(GFI1B):c.649-5G>C
|
|
|
NM_001377304.1(GFI1B):c.692G>T (p.Arg231Leu)
|
|
|
NM_001377304.1(GFI1B):c.731del (p.Asp244fs)
|
rs2118905794
|
|
NM_001377304.1(GFI1B):c.758G>A (p.Cys253Tyr)
|
rs1849225412
|
|
NM_001377304.1(GFI1B):c.760G>A (p.Gly254Ser)
|
|
|
NM_001377304.1(GFI1B):c.782C>G (p.Ser261Cys)
|
|
|
NM_001377304.1(GFI1B):c.793A>T (p.Lys265Ter)
|
rs1554724694
|
|
NM_001377304.1(GFI1B):c.859C>T (p.Gln287Ter)
|
rs587777211
|
|
NM_001377304.1(GFI1B):c.869A>G (p.Asn290Ser)
|
|
|
NM_001377304.1(GFI1B):c.880dup (p.His294fs)
|
rs397989794
|
|
NM_001377304.1(GFI1B):c.981C>G (p.His327Gln)
|
rs147973999
|
|
NM_002658.6(PLAU):c.*176G>T
|
rs886047209
|
|
NM_002658.6(PLAU):c.*398C>T
|
rs190769030
|
|
NM_002658.6(PLAU):c.*3G>A
|
rs886047208
|
|
NM_002658.6(PLAU):c.*538G>A
|
rs185856064
|
|
NM_002658.6(PLAU):c.*688C>T
|
rs886047211
|
|
NM_002658.6(PLAU):c.-41G>A
|
rs886047204
|
|
NM_002658.6(PLAU):c.1048T>C (p.Tyr350His)
|
rs72816325
|
|
NM_002658.6(PLAU):c.236G>C (p.Arg79Pro)
|
rs201299522
|
|
NM_002658.6(PLAU):c.316G>C (p.Ala106Pro)
|
rs886047206
|
|
NM_002658.6(PLAU):c.43G>T (p.Val15Leu)
|
rs2227580
|
|
NM_002658.6(PLAU):c.467dup (p.Pro157fs)
|
rs1435611170
|
|
NM_002658.6(PLAU):c.539T>C (p.Ile180Thr)
|
|
|
NM_002658.6(PLAU):c.548A>G (p.Glu183Gly)
|
|
|
NM_002658.6(PLAU):c.559A>G (p.Ile187Val)
|
rs528761202
|
|
NM_002658.6(PLAU):c.581C>A (p.Ala194Glu)
|
rs145865648
|
|
NM_002658.6(PLAU):c.735C>A (p.Asn245Lys)
|
rs1249124159
|
|
NM_002658.6(PLAU):c.750G>C (p.Gly250=)
|
rs886047207
|
|
NM_002658.6(PLAU):c.754A>T (p.Met252Leu)
|
|
|
NM_002658.6(PLAU):c.830-13T>C
|
rs376665535
|
|
NM_002658.6(PLAU):c.983A>G (p.Tyr328Cys)
|
|
|
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.-120C>G
|
rs1011004600
|
|
NM_015175.3(NBEAL2):c.-14_-9dup
|
rs764010884
|
|
NM_015175.3(NBEAL2):c.1081A>G (p.Thr361Ala)
|
rs769842468
|
|
NM_015175.3(NBEAL2):c.1163T>C (p.Leu388Pro)
|
rs387907113
|
|
NM_015175.3(NBEAL2):c.1271G>A (p.Arg424Gln)
|
rs768145657
|
|
NM_015175.3(NBEAL2):c.1376del (p.Leu459fs)
|
rs2107337553
|
|
NM_015175.3(NBEAL2):c.1476_1479dup (p.Leu494fs)
|
rs781366964
|
|
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.1725_1728dup (p.Ala577fs)
|
rs2036418481
|
|
NM_015175.3(NBEAL2):c.1789C>T (p.Arg597Ter)
|
rs1172581672
|
|
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.1985A>G (p.Tyr662Cys)
|
rs1171833737
|
|
NM_015175.3(NBEAL2):c.2044A>T (p.Ile682Phe)
|
rs773164015
|
|
NM_015175.3(NBEAL2):c.2151G>C (p.Glu717Asp)
|
rs2107346255
|
|
NM_015175.3(NBEAL2):c.2219C>A (p.Thr740Lys)
|
rs886058594
|
|
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.2701C>T (p.Arg901Ter)
|
rs387907112
|
|
NM_015175.3(NBEAL2):c.2751dup (p.Asp918Ter)
|
rs2036579205
|
|
NM_015175.3(NBEAL2):c.3106G>A (p.Ala1036Thr)
|
rs769080091
|
|
NM_015175.3(NBEAL2):c.3118+2T>G
|
rs1349443190
|
|
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.3327C>T (p.Asp1109=)
|
rs143491739
|
|
NM_015175.3(NBEAL2):c.3414C>T (p.Ala1138=)
|
rs886058597
|
|
NM_015175.3(NBEAL2):c.368C>G (p.Pro123Arg)
|
rs371460227
|
|
NM_015175.3(NBEAL2):c.3728T>C (p.Leu1243Pro)
|
rs753466927
|
|
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.37C>T (p.Leu13Phe)
|
|
|
NM_015175.3(NBEAL2):c.3907C>A (p.Pro1303Thr)
|
|
|
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.4121G>A (p.Gly1374Asp)
|
rs886058598
|
|
NM_015175.3(NBEAL2):c.427G>A (p.Glu143Lys)
|
rs1001207491
|
|
NM_015175.3(NBEAL2):c.4306-15C>G
|
rs886058599
|
|
NM_015175.3(NBEAL2):c.4371_4375dup (p.Glu1459fs)
|
|
|
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.4526A>G (p.Lys1509Arg)
|
rs2036970287
|
|
NM_015175.3(NBEAL2):c.474-4C>T
|
rs375726193
|
|
NM_015175.3(NBEAL2):c.4745G>A (p.Arg1582Gln)
|
|
|
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.4890del (p.Arg1631fs)
|
rs2037042664
|
|
NM_015175.3(NBEAL2):c.4928_4929del (p.Asp1643fs)
|
rs2037048154
|
|
NM_015175.3(NBEAL2):c.51+11C>T
|
rs886058590
|
|
NM_015175.3(NBEAL2):c.5125G>T (p.Glu1709Ter)
|
|
|
NM_015175.3(NBEAL2):c.5413G>A (p.Ala1805Thr)
|
rs2037120735
|
|
NM_015175.3(NBEAL2):c.5413dup (p.Ala1805fs)
|
rs794726683
|
|
NM_015175.3(NBEAL2):c.5431_5438del (p.Ala1811fs)
|
rs2107413869
|
|
NM_015175.3(NBEAL2):c.5476dup (p.Arg1826fs)
|
rs2107416290
|
|
NM_015175.3(NBEAL2):c.5502_5509del (p.Tyr1835fs)
|
rs2107416663
|
|
NM_015175.3(NBEAL2):c.5516G>A (p.Arg1839His)
|
rs758124017
|
|
NM_015175.3(NBEAL2):c.5777G>A (p.Cys1926Tyr)
|
rs1575619957
|
|
NM_015175.3(NBEAL2):c.5874C>T (p.Thr1958=)
|
rs138278141
|
|
NM_015175.3(NBEAL2):c.5881+11G>A
|
rs201179667
|
|
NM_015175.3(NBEAL2):c.5935C>T (p.Arg1979Trp)
|
rs771025246
|
|
NM_015175.3(NBEAL2):c.6054C>G (p.Pro2018=)
|
rs1079276
|
|
NM_015175.3(NBEAL2):c.607dup (p.Ile203fs)
|
rs1575592157
|
|
NM_015175.3(NBEAL2):c.6165C>G (p.Pro2055=)
|
rs201897629
|
|
NM_015175.3(NBEAL2):c.6202T>C (p.Trp2068Arg)
|
rs2037277207
|
|
NM_015175.3(NBEAL2):c.6239T>A (p.Met2080Lys)
|
rs1339171276
|
|
NM_015175.3(NBEAL2):c.6299C>T (p.Pro2100Leu)
|
rs387907115
|
|
NM_015175.3(NBEAL2):c.634G>A (p.Gly212Arg)
|
rs886058592
|
|
NM_015175.3(NBEAL2):c.6359G>A (p.Arg2120Gln)
|
rs762258197
|
|
NM_015175.3(NBEAL2):c.6404A>G (p.Gln2135Arg)
|
rs886058602
|
|
NM_015175.3(NBEAL2):c.6413G>A (p.Arg2138Lys)
|
rs886058603
|
|
NM_015175.3(NBEAL2):c.6432del (p.Phe2144fs)
|
rs1575623114
|
|
NM_015175.3(NBEAL2):c.6460T>C (p.Phe2154Leu)
|
rs1575623184
|
|
NM_015175.3(NBEAL2):c.6468T>A (p.Tyr2156Ter)
|
rs2107437335
|
|
NM_015175.3(NBEAL2):c.6568del (p.Cys2190fs)
|
rs2037363765
|
|
NM_015175.3(NBEAL2):c.6591G>C (p.Ser2197=)
|
rs554449998
|
|
NM_015175.3(NBEAL2):c.6706T>G (p.Cys2236Gly)
|
rs2037389157
|
|
NM_015175.3(NBEAL2):c.6753G>A (p.Pro2251=)
|
|
|
NM_015175.3(NBEAL2):c.682G>T (p.Gly228Cys)
|
rs2036079664
|
|
NM_015175.3(NBEAL2):c.6877G>A (p.Ala2293Thr)
|
|
|
NM_015175.3(NBEAL2):c.6893A>G (p.Asn2298Ser)
|
rs2107445568
|
|
NM_015175.3(NBEAL2):c.6894T>A (p.Asn2298Lys)
|
rs2037417315
|
|
NM_015175.3(NBEAL2):c.6919+12G>A
|
rs772599355
|
|
NM_015175.3(NBEAL2):c.6920-1G>C
|
rs2037428827
|
|
NM_015175.3(NBEAL2):c.6959G>C (p.Arg2320Pro)
|
rs377326649
|
|
NM_015175.3(NBEAL2):c.7103dup (p.His2368fs)
|
rs2107448208
|
|
NM_015175.3(NBEAL2):c.7177C>T (p.His2393Tyr)
|
rs886058604
|
|
NM_015175.3(NBEAL2):c.7192_7202dup (p.Gln2402fs)
|
rs2037501401
|
|
NM_015175.3(NBEAL2):c.7225-1G>C
|
rs1575628744
|
|
NM_015175.3(NBEAL2):c.7284del (p.Asn2428fs)
|
rs2107453711
|
|
NM_015175.3(NBEAL2):c.7387C>T (p.Gln2463Ter)
|
rs1575629721
|
|
NM_015175.3(NBEAL2):c.7460_7461del (p.Thr2487fs)
|
|
|
NM_015175.3(NBEAL2):c.7501C>T (p.His2501Tyr)
|
rs1405730457
|
|
NM_015175.3(NBEAL2):c.7506del (p.Asp2503fs)
|
rs2037558268
|
|
NM_015175.3(NBEAL2):c.7513G>A (p.Val2505Ile)
|
rs886058605
|
|
NM_015175.3(NBEAL2):c.7564C>G (p.Arg2522Gly)
|
rs772546336
|
|
NM_015175.3(NBEAL2):c.7585T>C (p.Trp2529Arg)
|
|
|
NM_015175.3(NBEAL2):c.7923G>A (p.Arg2641=)
|
rs2037640069
|
|
NM_015175.3(NBEAL2):c.792C>T (p.Ser264=)
|
rs2036088919
|
|
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.808G>A (p.Gly270Ser)
|
rs2036091159
|
|
NM_015175.3(NBEAL2):c.8164-1G>A
|
rs2107465570
|
|
NM_015175.3(NBEAL2):c.8164-3C>G
|
rs886058606
|
|
NM_015175.3(NBEAL2):c.881C>G (p.Ser294Ter)
|
rs372277612
|
|
Single allele
|
|
|