NM_001905.4(CTPS1):c.1276C>G (p.Pro426Ala)
|
rs139322260
|
0.00151
|
NM_032415.7(CARD11):c.3145-3C>T
|
rs200456391
|
0.00077
|
NM_001556.3(IKBKB):c.887C>T (p.Pro296Leu)
|
rs186203343
|
0.00054
|
NM_032415.7(CARD11):c.2119C>T (p.Arg707Cys)
|
rs143049136
|
0.00039
|
NM_001556.3(IKBKB):c.318+6G>T
|
rs17875678
|
0.00029
|
NM_032415.7(CARD11):c.2920C>T (p.Arg974Cys)
|
rs201847585
|
0.00028
|
NM_001905.4(CTPS1):c.1411G>A (p.Ala471Thr)
|
rs374862639
|
0.00027
|
NM_001556.3(IKBKB):c.1829C>T (p.Thr610Met)
|
rs200738579
|
0.00024
|
NM_032415.7(CARD11):c.1807+3A>G
|
rs41368548
|
0.00015
|
NM_032415.7(CARD11):c.2735G>A (p.Arg912Gln)
|
rs368119340
|
0.00015
|
NM_001556.3(IKBKB):c.938A>G (p.His313Arg)
|
rs141351312
|
0.00012
|
NM_001905.4(CTPS1):c.1649G>A (p.Arg550Gln)
|
rs776186929
|
0.00011
|
NM_032415.7(CARD11):c.1618G>A (p.Gly540Arg)
|
rs112690795
|
0.00010
|
NM_001556.3(IKBKB):c.2087A>G (p.Asn696Ser)
|
rs202226005
|
0.00009
|
NM_001556.3(IKBKB):c.788A>G (p.Asn263Ser)
|
rs201211235
|
0.00008
|
NM_001905.4(CTPS1):c.472C>T (p.Pro158Ser)
|
rs140029453
|
0.00008
|
NM_001556.3(IKBKB):c.916A>G (p.Ile306Val)
|
rs140200494
|
0.00007
|
NM_032415.7(CARD11):c.1342-3C>T
|
rs375111825
|
0.00007
|
NM_001556.3(IKBKB):c.650C>T (p.Thr217Met)
|
rs201023733
|
0.00006
|
NM_001905.4(CTPS1):c.1691+6C>T
|
rs765397908
|
0.00006
|
NM_032415.7(CARD11):c.2239G>A (p.Val747Ile)
|
rs769577430
|
0.00006
|
NM_032415.7(CARD11):c.2899C>T (p.Arg967Cys)
|
rs149857605
|
0.00006
|
NM_001556.3(IKBKB):c.1336C>T (p.Arg446Trp)
|
rs202136671
|
0.00005
|
NM_001556.3(IKBKB):c.1654A>G (p.Met552Val)
|
rs200018957
|
0.00005
|
NM_001556.3(IKBKB):c.674A>G (p.Asn225Ser)
|
rs200288567
|
0.00005
|
NM_032415.7(CARD11):c.1663C>T (p.Arg555Trp)
|
rs748963963
|
0.00005
|
NM_032415.7(CARD11):c.2703+4A>G
|
rs201256077
|
0.00005
|
NM_032415.7(CARD11):c.941A>C (p.Glu314Ala)
|
rs765556434
|
0.00005
|
NM_001556.3(IKBKB):c.2119G>A (p.Glu707Lys)
|
rs753511458
|
0.00004
|
NM_001556.3(IKBKB):c.878C>T (p.Thr293Met)
|
rs200322650
|
0.00004
|
NM_001905.4(CTPS1):c.361A>G (p.Ile121Val)
|
rs200274195
|
0.00004
|
NM_001905.4(CTPS1):c.386C>T (p.Ala129Val)
|
rs143058120
|
0.00004
|
NM_032415.7(CARD11):c.1940+6C>G
|
rs779299079
|
0.00004
|
NM_032415.7(CARD11):c.2275C>T (p.Arg759Trp)
|
rs369433934
|
0.00004
|
NM_032415.7(CARD11):c.3382G>A (p.Val1128Ile)
|
rs372251654
|
0.00004
|
NM_032415.7(CARD11):c.704G>A (p.Arg235Gln)
|
rs148083162
|
0.00004
|
NM_001556.3(IKBKB):c.1607G>A (p.Arg536Gln)
|
rs111715123
|
0.00003
|
NM_001556.3(IKBKB):c.1884G>C (p.Lys628Asn)
|
rs372663781
|
0.00003
|
NM_001556.3(IKBKB):c.1934G>A (p.Arg645Gln)
|
rs146638252
|
0.00003
|
NM_001556.3(IKBKB):c.1996C>T (p.Arg666Cys)
|
rs200511641
|
0.00003
|
NM_001556.3(IKBKB):c.2036C>T (p.Ser679Phe)
|
rs1212103006
|
0.00003
|
NM_001556.3(IKBKB):c.2169A>G (p.Ile723Met)
|
rs150441824
|
0.00003
|
NM_001556.3(IKBKB):c.2228A>T (p.Gln743Leu)
|
rs201869683
|
0.00003
|
NM_001556.3(IKBKB):c.353G>A (p.Arg118Gln)
|
rs139712776
|
0.00003
|
NM_001556.3(IKBKB):c.613T>C (p.Tyr205His)
|
rs147591709
|
0.00003
|
NM_001905.4(CTPS1):c.1087A>G (p.Ser363Gly)
|
rs149054758
|
0.00003
|
NM_001905.4(CTPS1):c.1769A>G (p.His590Arg)
|
rs755468825
|
0.00003
|
NM_001905.4(CTPS1):c.242G>A (p.Arg81His)
|
rs376970699
|
0.00003
|
NM_032415.7(CARD11):c.1271G>A (p.Arg424Gln)
|
rs564294642
|
0.00003
|
NM_032415.7(CARD11):c.1807+5G>A
|
rs748165134
|
0.00003
|
NM_032415.7(CARD11):c.2269+3G>A
|
rs779109505
|
0.00003
|
NM_032415.7(CARD11):c.3095A>G (p.Asn1032Ser)
|
rs759214987
|
0.00003
|
NM_032415.7(CARD11):c.975C>A (p.Asn325Lys)
|
rs761421227
|
0.00003
|
NM_001556.3(IKBKB):c.1097C>T (p.Pro366Leu)
|
rs763596106
|
0.00002
|
NM_001556.3(IKBKB):c.1360G>A (p.Ala454Thr)
|
rs1286940689
|
0.00002
|
NM_001556.3(IKBKB):c.1364+5C>T
|
rs752596848
|
0.00002
|
NM_001556.3(IKBKB):c.317A>G (p.Lys106Arg)
|
rs755185347
|
0.00002
|
NM_001556.3(IKBKB):c.522T>G (p.Asp174Glu)
|
rs749952717
|
0.00002
|
NM_001556.3(IKBKB):c.718G>A (p.Glu240Lys)
|
rs201052871
|
0.00002
|
NM_001556.3(IKBKB):c.820G>A (p.Glu274Lys)
|
rs200531993
|
0.00002
|
NM_001556.3(IKBKB):c.971C>T (p.Thr324Ile)
|
rs754812986
|
0.00002
|
NM_001905.4(CTPS1):c.1040C>T (p.Ser347Leu)
|
rs988433826
|
0.00002
|
NM_001905.4(CTPS1):c.1235A>G (p.Asn412Ser)
|
rs928104008
|
0.00002
|
NM_001905.4(CTPS1):c.1294G>A (p.Val432Met)
|
rs373379651
|
0.00002
|
NM_001905.4(CTPS1):c.1327C>A (p.Gln443Lys)
|
rs777839795
|
0.00002
|
NM_001905.4(CTPS1):c.1379A>G (p.Lys460Arg)
|
rs568672601
|
0.00002
|
NM_001905.4(CTPS1):c.1692-3C>T
|
rs748205702
|
0.00002
|
NM_001905.4(CTPS1):c.1692G>A (p.Arg564=)
|
rs201074432
|
0.00002
|
NM_001905.4(CTPS1):c.439-6T>G
|
rs369112285
|
0.00002
|
NM_001905.4(CTPS1):c.880C>T (p.Arg294Cys)
|
rs372743741
|
0.00002
|
NM_032415.7(CARD11):c.1834G>A (p.Gly612Arg)
|
rs755710637
|
0.00002
|
NM_032415.7(CARD11):c.2543G>A (p.Arg848His)
|
rs1211022340
|
0.00002
|
NM_032415.7(CARD11):c.2777C>T (p.Pro926Leu)
|
rs755425231
|
0.00002
|
NM_032415.7(CARD11):c.3019+3G>A
|
rs930551737
|
0.00002
|
NM_032415.7(CARD11):c.3019+5G>A
|
rs752816910
|
0.00002
|
NM_032415.7(CARD11):c.925C>T (p.Arg309Cys)
|
rs370704955
|
0.00002
|
NM_001556.3(IKBKB):c.106-3T>C
|
rs374850898
|
0.00001
|
NM_001556.3(IKBKB):c.1084A>G (p.Ile362Val)
|
rs1263837874
|
0.00001
|
NM_001556.3(IKBKB):c.1121G>C (p.Gly374Ala)
|
rs1434387039
|
0.00001
|
NM_001556.3(IKBKB):c.1235G>C (p.Cys412Ser)
|
rs368737022
|
0.00001
|
NM_001556.3(IKBKB):c.1337G>A (p.Arg446Gln)
|
rs200485393
|
0.00001
|
NM_001556.3(IKBKB):c.1466G>T (p.Ser489Ile)
|
rs1184918253
|
0.00001
|
NM_001556.3(IKBKB):c.14C>T (p.Pro5Leu)
|
rs201805807
|
0.00001
|
NM_001556.3(IKBKB):c.1552G>A (p.Glu518Lys)
|
rs1378740755
|
0.00001
|
NM_001556.3(IKBKB):c.1603G>C (p.Glu535Gln)
|
rs1438637705
|
0.00001
|
NM_001556.3(IKBKB):c.1661G>A (p.Arg554Gln)
|
rs751295594
|
0.00001
|
NM_001556.3(IKBKB):c.1676C>T (p.Thr559Met)
|
rs754822259
|
0.00001
|
NM_001556.3(IKBKB):c.1817G>A (p.Arg606Gln)
|
rs776259486
|
0.00001
|
NM_001556.3(IKBKB):c.1819G>A (p.Val607Met)
|
rs764627236
|
0.00001
|
NM_001556.3(IKBKB):c.1826A>G (p.Tyr609Cys)
|
rs1446069169
|
0.00001
|
NM_001556.3(IKBKB):c.1933C>T (p.Arg645Trp)
|
rs753922163
|
0.00001
|
NM_001556.3(IKBKB):c.1986T>C (p.Cys662=)
|
rs1302408676
|
0.00001
|
NM_001556.3(IKBKB):c.2078C>T (p.Thr693Met)
|
rs199897983
|
0.00001
|
NM_001556.3(IKBKB):c.2104G>A (p.Ala702Thr)
|
rs200260868
|
0.00001
|
NM_001556.3(IKBKB):c.230G>A (p.Arg77Gln)
|
rs200136227
|
0.00001
|
NM_001556.3(IKBKB):c.266A>G (p.Asn89Ser)
|
rs763432993
|
0.00001
|
NM_001556.3(IKBKB):c.32C>T (p.Thr11Ile)
|
rs1388981077
|
0.00001
|
NM_001556.3(IKBKB):c.341G>A (p.Cys114Tyr)
|
rs1383844139
|
0.00001
|
NM_001556.3(IKBKB):c.700A>G (p.Lys234Glu)
|
rs1193171808
|
0.00001
|
NM_001556.3(IKBKB):c.869C>T (p.Thr290Met)
|
rs201602866
|
0.00001
|
NM_001556.3(IKBKB):c.902A>G (p.Lys301Arg)
|
rs1304501516
|
0.00001
|
NM_001556.3(IKBKB):c.940A>G (p.Ile314Val)
|
rs201912118
|
0.00001
|
NM_001905.4(CTPS1):c.1009A>G (p.Ile337Val)
|
rs140093917
|
0.00001
|
NM_001905.4(CTPS1):c.1054G>A (p.Val352Met)
|
rs150289603
|
0.00001
|
NM_001905.4(CTPS1):c.1095-5T>G
|
rs373984935
|
0.00001
|
NM_001905.4(CTPS1):c.1237G>A (p.Val413Met)
|
rs778320711
|
0.00001
|
NM_001905.4(CTPS1):c.1280C>T (p.Thr427Met)
|
rs768930904
|
0.00001
|
NM_001905.4(CTPS1):c.1397A>G (p.Lys466Arg)
|
rs962110557
|
0.00001
|
NM_001905.4(CTPS1):c.1403A>G (p.Tyr468Cys)
|
rs144358815
|
0.00001
|
NM_001905.4(CTPS1):c.1727C>G (p.Pro576Arg)
|
rs149425488
|
0.00001
|
NM_001905.4(CTPS1):c.221A>G (p.Tyr74Cys)
|
rs751260098
|
0.00001
|
NM_001905.4(CTPS1):c.241C>T (p.Arg81Cys)
|
rs748131892
|
0.00001
|
NM_001905.4(CTPS1):c.451G>A (p.Val151Met)
|
rs372858150
|
0.00001
|
NM_001905.4(CTPS1):c.790G>T (p.Asp264Tyr)
|
rs1484961348
|
0.00001
|
NM_001905.4(CTPS1):c.889G>A (p.Glu297Lys)
|
rs746188198
|
0.00001
|
NM_001905.4(CTPS1):c.939C>G (p.Ser313=)
|
rs1003752907
|
0.00001
|
NM_001905.4(CTPS1):c.98A>G (p.His33Arg)
|
rs1288200124
|
0.00001
|
NM_032415.7(CARD11):c.1136G>A (p.Arg379Gln)
|
rs751008087
|
0.00001
|
NM_032415.7(CARD11):c.1143+10C>G
|
rs1300600302
|
0.00001
|
NM_032415.7(CARD11):c.1143+8C>T
|
rs1361841452
|
0.00001
|
NM_032415.7(CARD11):c.1223G>A (p.Arg408His)
|
rs79513324
|
0.00001
|
NM_032415.7(CARD11):c.1531A>G (p.Lys511Glu)
|
rs1204092415
|
0.00001
|
NM_032415.7(CARD11):c.1558T>C (p.Ser520Pro)
|
rs755350456
|
0.00001
|
NM_032415.7(CARD11):c.155T>C (p.Ile52Thr)
|
rs1780507014
|
0.00001
|
NM_032415.7(CARD11):c.1783G>A (p.Gly595Arg)
|
rs758980337
|
0.00001
|
NM_032415.7(CARD11):c.1948C>T (p.Arg650Trp)
|
rs745349548
|
0.00001
|
NM_032415.7(CARD11):c.2008A>T (p.Thr670Ser)
|
rs369830451
|
0.00001
|
NM_032415.7(CARD11):c.2063G>A (p.Arg688Gln)
|
rs764342695
|
0.00001
|
NM_032415.7(CARD11):c.2113G>A (p.Gly705Ser)
|
rs146070546
|
0.00001
|
NM_032415.7(CARD11):c.2377A>G (p.Met793Val)
|
rs201921426
|
0.00001
|
NM_032415.7(CARD11):c.2410C>T (p.Arg804Cys)
|
rs895214237
|
0.00001
|
NM_032415.7(CARD11):c.2480T>G (p.Leu827Arg)
|
rs1230820912
|
0.00001
|
NM_032415.7(CARD11):c.2564G>A (p.Arg855Gln)
|
rs928782717
|
0.00001
|
NM_032415.7(CARD11):c.2606G>A (p.Arg869Gln)
|
rs763435728
|
0.00001
|
NM_032415.7(CARD11):c.2650C>T (p.Arg884Trp)
|
rs1450077193
|
0.00001
|
NM_032415.7(CARD11):c.2662C>T (p.Arg888Cys)
|
rs142828146
|
0.00001
|
NM_032415.7(CARD11):c.2780T>C (p.Leu927Pro)
|
rs934009845
|
0.00001
|
NM_032415.7(CARD11):c.2909A>G (p.Tyr970Cys)
|
rs1225312452
|
0.00001
|
NM_032415.7(CARD11):c.2929G>A (p.Val977Met)
|
rs1172378918
|
0.00001
|
NM_032415.7(CARD11):c.3057G>T (p.Lys1019Asn)
|
rs899595121
|
0.00001
|
NM_032415.7(CARD11):c.3109A>G (p.Ile1037Val)
|
rs201598354
|
0.00001
|
NM_032415.7(CARD11):c.3205A>G (p.Ile1069Val)
|
rs1466729511
|
0.00001
|
NM_032415.7(CARD11):c.3260+5G>A
|
rs765125933
|
0.00001
|
NM_032415.7(CARD11):c.3302G>A (p.Arg1101His)
|
rs751651073
|
0.00001
|
NM_032415.7(CARD11):c.3344G>A (p.Cys1115Tyr)
|
rs777154448
|
0.00001
|
NM_032415.7(CARD11):c.377G>C (p.Gly126Ala)
|
rs1423056320
|
0.00001
|
NM_032415.7(CARD11):c.3G>C (p.Met1Ile)
|
rs746425765
|
0.00001
|
NM_032415.7(CARD11):c.416A>G (p.Gln139Arg)
|
rs1780388446
|
0.00001
|
NM_032415.7(CARD11):c.50A>G (p.Asp17Gly)
|
rs1053147582
|
0.00001
|
NM_032415.7(CARD11):c.61G>A (p.Ala21Thr)
|
rs775081227
|
0.00001
|
NM_032415.7(CARD11):c.808G>C (p.Glu270Gln)
|
rs1402074557
|
0.00001
|
NM_032415.7(CARD11):c.812G>T (p.Arg271Leu)
|
rs777590674
|
0.00001
|
NM_032415.7(CARD11):c.94A>G (p.Met32Val)
|
rs1359873709
|
0.00001
|
NM_032415.7(CARD11):c.95T>C (p.Met32Thr)
|
rs1236228710
|
0.00001
|
NM_032415.7(CARD11):c.992G>A (p.Arg331His)
|
rs768652824
|
0.00001
|
NC_000001.10:g.(?_41474523)_(41510926_?)del
|
|
|
NC_000007.13:g.(?_2577703)_(2972240_?)dup
|
|
|
NC_000007.13:g.(?_2946252)_(2998160_?)dup
|
|
|
NC_000007.13:g.(?_2946272)_(2946496_?)dup
|
|
|
NC_000007.13:g.(?_2946272)_(2966445_?)del
|
|
|
NC_000007.13:g.(?_2946272)_(2998140_?)dup
|
|
|
NC_000007.13:g.(?_2962248)_(2998140_?)dup
|
|
|
NC_000007.14:g.(?_2906618)_(2917405_?)del
|
|
|
NC_000007.14:g.(?_2922614)_(2958526_?)dup
|
|
|
NC_000008.10:g.(?_41518984)_(42698237_?)dup
|
|
|
NC_000008.10:g.(?_41905876)_(42188497_?)dup
|
|
|
NC_000008.10:g.(?_42128869)_(43054732_?)dup
|
|
|
NC_000008.10:g.(?_42129619)_(42188497_?)dup
|
|
|
NM_001556.3(IKBKB):c.1073G>A (p.Gly358Asp)
|
rs2130638855
|
|
NM_001556.3(IKBKB):c.1079C>T (p.Ala360Val)
|
|
|
NM_001556.3(IKBKB):c.1090G>A (p.Asp364Asn)
|
|
|
NM_001556.3(IKBKB):c.1106A>G (p.Gln369Arg)
|
rs56411242
|
|
NM_001556.3(IKBKB):c.1117G>C (p.Asp373His)
|
rs2130639266
|
|
NM_001556.3(IKBKB):c.1120G>A (p.Gly374Ser)
|
rs758806135
|
|
NM_001556.3(IKBKB):c.1124A>C (p.Lys375Thr)
|
rs1585763391
|
|
NM_001556.3(IKBKB):c.1130A>G (p.Asn377Ser)
|
|
|
NM_001556.3(IKBKB):c.1136G>T (p.Gly379Val)
|
|
|
NM_001556.3(IKBKB):c.1170T>C (p.Phe390=)
|
|
|
NM_001556.3(IKBKB):c.1172A>G (p.Asp391Gly)
|
|
|
NM_001556.3(IKBKB):c.1173C>A (p.Asp391Glu)
|
|
|
NM_001556.3(IKBKB):c.1192G>A (p.Glu398Lys)
|
|
|
NM_001556.3(IKBKB):c.1200G>C (p.Gln400His)
|
|
|
NM_001556.3(IKBKB):c.1205C>G (p.Ser402Cys)
|
|
|
NM_001556.3(IKBKB):c.1223A>C (p.Glu408Ala)
|
rs543940041
|
|
NM_001556.3(IKBKB):c.1238T>A (p.Ile413Asn)
|
rs1221917553
|
|
NM_001556.3(IKBKB):c.1240C>T (p.Leu414Phe)
|
|
|
NM_001556.3(IKBKB):c.1244A>G (p.Gln415Arg)
|
|
|
NM_001556.3(IKBKB):c.1255A>G (p.Arg419Gly)
|
|
|
NM_001556.3(IKBKB):c.1264G>A (p.Ala422Thr)
|
|
|
NM_001556.3(IKBKB):c.1342C>T (p.Gln448Ter)
|
|
|
NM_001556.3(IKBKB):c.1357G>A (p.Ala453Thr)
|
|
|
NM_001556.3(IKBKB):c.1364+6G>A
|
|
|
NM_001556.3(IKBKB):c.1365-14T>C
|
|
|
NM_001556.3(IKBKB):c.13C>A (p.Pro5Thr)
|
|
|
NM_001556.3(IKBKB):c.1404G>T (p.Met468Ile)
|
|
|
NM_001556.3(IKBKB):c.1412C>G (p.Ser471Cys)
|
|
|
NM_001556.3(IKBKB):c.1416G>C (p.Met472Ile)
|
|
|
NM_001556.3(IKBKB):c.1424T>C (p.Met475Thr)
|
rs200031466
|
|
NM_001556.3(IKBKB):c.1439A>G (p.Lys480Arg)
|
|
|
NM_001556.3(IKBKB):c.1451A>G (p.Asp484Gly)
|
rs2130659705
|
|
NM_001556.3(IKBKB):c.1468A>G (p.Ile490Val)
|
rs1819332008
|
|
NM_001556.3(IKBKB):c.1480C>A (p.Leu494Met)
|
|
|
NM_001556.3(IKBKB):c.1495G>A (p.Glu499Lys)
|
|
|
NM_001556.3(IKBKB):c.1517-3C>G
|
rs1819383596
|
|
NM_001556.3(IKBKB):c.1519T>C (p.Ser507Pro)
|
rs1585781141
|
|
NM_001556.3(IKBKB):c.1557G>C (p.Gln519His)
|
|
|
NM_001556.3(IKBKB):c.1578+11C>A
|
|
|
NM_001556.3(IKBKB):c.1600G>A (p.Val534Ile)
|
|
|
NM_001556.3(IKBKB):c.1627G>A (p.Asp543Asn)
|
|
|
NM_001556.3(IKBKB):c.162C>G (p.Asn54Lys)
|
|
|
NM_001556.3(IKBKB):c.1637A>G (p.Asp546Gly)
|
rs2130671505
|
|
NM_001556.3(IKBKB):c.1658G>C (p.Gly553Ala)
|
rs1326176524
|
|
NM_001556.3(IKBKB):c.1660C>T (p.Arg554Trp)
|
|
|
NM_001556.3(IKBKB):c.1669G>C (p.Gly557Arg)
|
|
|
NM_001556.3(IKBKB):c.1673G>T (p.Gly558Val)
|
rs1441651063
|
|
NM_001556.3(IKBKB):c.1675A>G (p.Thr559Ala)
|
|
|
NM_001556.3(IKBKB):c.1675A>T (p.Thr559Ser)
|
rs1182623073
|
|
NM_001556.3(IKBKB):c.1679T>C (p.Leu560Pro)
|
rs1195581989
|
|
NM_001556.3(IKBKB):c.1688+5G>A
|
|
|
NM_001556.3(IKBKB):c.1690G>A (p.Glu564Lys)
|
|
|
NM_001556.3(IKBKB):c.1706A>G (p.Glu569Gly)
|
|
|
NM_001556.3(IKBKB):c.1714A>G (p.Arg572Gly)
|
|
|
NM_001556.3(IKBKB):c.1736G>A (p.Arg579Gln)
|
|
|
NM_001556.3(IKBKB):c.1761T>G (p.Ser587Arg)
|
|
|
NM_001556.3(IKBKB):c.1798A>G (p.Ser600Gly)
|
rs772006031
|
|
NM_001556.3(IKBKB):c.1813G>T (p.Val605Leu)
|
rs1563364138
|
|
NM_001556.3(IKBKB):c.1816C>G (p.Arg606Gly)
|
rs768351634
|
|
NM_001556.3(IKBKB):c.1819G>C (p.Val607Leu)
|
rs764627236
|
|
NM_001556.3(IKBKB):c.1832A>G (p.Gln611Arg)
|
|
|
NM_001556.3(IKBKB):c.1848G>A (p.Val616=)
|
|
|
NM_001556.3(IKBKB):c.1849G>A (p.Val617Ile)
|
|
|
NM_001556.3(IKBKB):c.1868T>C (p.Leu623Pro)
|
|
|
NM_001556.3(IKBKB):c.1916A>G (p.Asp639Gly)
|
|
|
NM_001556.3(IKBKB):c.1930G>A (p.Val644Ile)
|
|
|
NM_001556.3(IKBKB):c.1948C>T (p.Arg650Trp)
|
|
|
NM_001556.3(IKBKB):c.2000G>C (p.Gly667Ala)
|
rs1820663869
|
|
NM_001556.3(IKBKB):c.2005G>C (p.Val669Leu)
|
|
|
NM_001556.3(IKBKB):c.203T>G (p.Leu68Arg)
|
|
|
NM_001556.3(IKBKB):c.2041C>T (p.Leu681Phe)
|
|
|
NM_001556.3(IKBKB):c.2074T>A (p.Ser692Thr)
|
|
|
NM_001556.3(IKBKB):c.2083T>A (p.Ser695Thr)
|
rs1820679317
|
|
NM_001556.3(IKBKB):c.2083T>C (p.Ser695Pro)
|
|
|
NM_001556.3(IKBKB):c.2115-3T>C
|
|
|
NM_001556.3(IKBKB):c.212C>T (p.Pro71Leu)
|
|
|
NM_001556.3(IKBKB):c.2156T>C (p.Leu719Pro)
|
rs2130735732
|
|
NM_001556.3(IKBKB):c.215A>G (p.Asn72Ser)
|
rs771764280
|
|
NM_001556.3(IKBKB):c.2180_2181del (p.Val727fs)
|
|
|
NM_001556.3(IKBKB):c.2185G>A (p.Glu729Lys)
|
|
|
NM_001556.3(IKBKB):c.2188C>G (p.Gln730Glu)
|
|
|
NM_001556.3(IKBKB):c.2190A>C (p.Gln730His)
|
|
|
NM_001556.3(IKBKB):c.2204C>A (p.Thr735Lys)
|
rs555312351
|
|
NM_001556.3(IKBKB):c.2220C>A (p.Ser740Arg)
|
|
|
NM_001556.3(IKBKB):c.2224_2232dup (p.Leu742_Thr744dup)
|
rs1821622693
|
|
NM_001556.3(IKBKB):c.2231C>T (p.Thr744Met)
|
|
|
NM_001556.3(IKBKB):c.2235AGA[2] (p.Glu748del)
|
rs774937660
|
|
NM_001556.3(IKBKB):c.2260C>T (p.Gln754Ter)
|
|
|
NM_001556.3(IKBKB):c.2260_2262dup (p.Gln754_Ala755insGln)
|
|
|
NM_001556.3(IKBKB):c.2263G>A (p.Ala755Thr)
|
|
|
NM_001556.3(IKBKB):c.314G>A (p.Arg105Gln)
|
rs1446214032
|
|
NM_001556.3(IKBKB):c.359G>A (p.Gly120Asp)
|
|
|
NM_001556.3(IKBKB):c.366C>T (p.Ile122=)
|
|
|
NM_001556.3(IKBKB):c.368T>C (p.Leu123Pro)
|
|
|
NM_001556.3(IKBKB):c.380G>A (p.Ser127Asn)
|
|
|
NM_001556.3(IKBKB):c.382G>A (p.Asp128Asn)
|
|
|
NM_001556.3(IKBKB):c.385A>G (p.Ile129Val)
|
rs1813081444
|
|
NM_001556.3(IKBKB):c.38G>A (p.Gly13Glu)
|
|
|
NM_001556.3(IKBKB):c.461A>G (p.Gln154Arg)
|
rs1425985153
|
|
NM_001556.3(IKBKB):c.467G>C (p.Gly156Ala)
|
|
|
NM_001556.3(IKBKB):c.509C>T (p.Ala170Val)
|
rs1554518965
|
|
NM_001556.3(IKBKB):c.514G>A (p.Glu172Lys)
|
|
|
NM_001556.3(IKBKB):c.547G>A (p.Val183Met)
|
|
|
NM_001556.3(IKBKB):c.554C>A (p.Thr185Asn)
|
|
|
NM_001556.3(IKBKB):c.577C>G (p.Leu193Val)
|
rs2130562887
|
|
NM_001556.3(IKBKB):c.675C>G (p.Asn225Lys)
|
rs368588487
|
|
NM_001556.3(IKBKB):c.692+5G>C
|
|
|
NM_001556.3(IKBKB):c.703G>A (p.Val235Met)
|
|
|
NM_001556.3(IKBKB):c.707G>A (p.Arg236Gln)
|
|
|
NM_001556.3(IKBKB):c.712A>C (p.Lys238Gln)
|
|
|
NM_001556.3(IKBKB):c.730G>A (p.Val244Ile)
|
rs774103270
|
|
NM_001556.3(IKBKB):c.739G>A (p.Glu247Lys)
|
|
|
NM_001556.3(IKBKB):c.742G>C (p.Asp248His)
|
rs2130616545
|
|
NM_001556.3(IKBKB):c.752G>C (p.Gly251Ala)
|
rs1585747711
|
|
NM_001556.3(IKBKB):c.757G>C (p.Val253Leu)
|
rs140074007
|
|
NM_001556.3(IKBKB):c.767C>T (p.Ser256Leu)
|
|
|
NM_001556.3(IKBKB):c.800+3A>G
|
rs1324740567
|
|
NM_001556.3(IKBKB):c.801-5C>G
|
rs1818657558
|
|
NM_001556.3(IKBKB):c.812A>C (p.Glu271Ala)
|
|
|
NM_001556.3(IKBKB):c.840G>T (p.Met280Ile)
|
rs1818662984
|
|
NM_001556.3(IKBKB):c.854C>G (p.Pro285Arg)
|
|
|
NM_001556.3(IKBKB):c.881A>G (p.Tyr294Cys)
|
rs759786790
|
|
NM_001556.3(IKBKB):c.90C>G (p.Ile30Met)
|
rs1807917822
|
|
NM_001556.3(IKBKB):c.931-12G>T
|
rs920349132
|
|
NM_001556.3(IKBKB):c.950T>C (p.Met317Thr)
|
rs1818752101
|
|
NM_001556.3(IKBKB):c.956C>T (p.Thr319Met)
|
|
|
NM_001556.3(IKBKB):c.987G>A (p.Glu329=)
|
rs1402092076
|
|
NM_001905.4(CTPS1):c.1005+6G>A
|
rs2148406240
|
|
NM_001905.4(CTPS1):c.1007A>T (p.Tyr336Phe)
|
rs1570970424
|
|
NM_001905.4(CTPS1):c.1019C>T (p.Ala340Val)
|
|
|
NM_001905.4(CTPS1):c.1057C>T (p.Arg353Cys)
|
rs968928651
|
|
NM_001905.4(CTPS1):c.1060T>C (p.Tyr354His)
|
|
|
NM_001905.4(CTPS1):c.1094+5G>A
|
|
|
NM_001905.4(CTPS1):c.1132A>G (p.Thr378Ala)
|
|
|
NM_001905.4(CTPS1):c.115A>G (p.Ile39Val)
|
rs2148385706
|
|
NM_001905.4(CTPS1):c.1166G>C (p.Arg389Pro)
|
rs139001308
|
|
NM_001905.4(CTPS1):c.1190-18T>A
|
|
|
NM_001905.4(CTPS1):c.1236C>T (p.Asn412=)
|
|
|
NM_001905.4(CTPS1):c.1253A>G (p.Asp418Gly)
|
rs1643025028
|
|
NM_001905.4(CTPS1):c.1268A>G (p.Glu423Gly)
|
|
|
NM_001905.4(CTPS1):c.1274_1275delinsTT (p.Asp425Val)
|
rs1643025482
|
|
NM_001905.4(CTPS1):c.1296+3G>A
|
|
|
NM_001905.4(CTPS1):c.1300G>A (p.Val434Ile)
|
rs375485430
|
|
NM_001905.4(CTPS1):c.1331T>A (p.Met444Lys)
|
|
|
NM_001905.4(CTPS1):c.1336G>A (p.Gly446Arg)
|
|
|
NM_001905.4(CTPS1):c.137A>G (p.Asp46Gly)
|
rs757447163
|
|
NM_001905.4(CTPS1):c.1390A>C (p.Met464Leu)
|
|
|
NM_001905.4(CTPS1):c.1392G>C (p.Met464Ile)
|
rs773684585
|
|
NM_001905.4(CTPS1):c.1398A>C (p.Lys466Asn)
|
|
|
NM_001905.4(CTPS1):c.1432C>T (p.His478Tyr)
|
|
|
NM_001905.4(CTPS1):c.1436G>T (p.Arg479Leu)
|
|
|
NM_001905.4(CTPS1):c.1449+3G>A
|
|
|
NM_001905.4(CTPS1):c.1450-4A>G
|
rs2148420558
|
|
NM_001905.4(CTPS1):c.1459G>C (p.Val487Leu)
|
rs1643098135
|
|
NM_001905.4(CTPS1):c.1469A>C (p.Lys490Thr)
|
|
|
NM_001905.4(CTPS1):c.1471T>G (p.Cys491Gly)
|
rs2148420580
|
|
NM_001905.4(CTPS1):c.1502G>C (p.Gly501Ala)
|
|
|
NM_001905.4(CTPS1):c.1547A>G (p.Asp516Gly)
|
|
|
NM_001905.4(CTPS1):c.1604A>G (p.Lys535Arg)
|
|
|
NM_001905.4(CTPS1):c.1610C>T (p.Ser537Phe)
|
|
|
NM_001905.4(CTPS1):c.1622T>C (p.Phe541Ser)
|
rs2148421320
|
|
NM_001905.4(CTPS1):c.1658A>T (p.His553Leu)
|
|
|
NM_001905.4(CTPS1):c.1684T>C (p.Ser562Pro)
|
|
|
NM_001905.4(CTPS1):c.1697C>T (p.Thr566Ile)
|
rs1643134667
|
|
NM_001905.4(CTPS1):c.1744G>A (p.Glu582Lys)
|
|
|
NM_001905.4(CTPS1):c.1757del (p.Pro586fs)
|
|
|
NM_001905.4(CTPS1):c.191G>A (p.Gly64Asp)
|
|
|
NM_001905.4(CTPS1):c.262C>G (p.Leu88Val)
|
|
|
NM_001905.4(CTPS1):c.287A>G (p.Tyr96Cys)
|
rs1642413763
|
|
NM_001905.4(CTPS1):c.304C>T (p.Arg102Trp)
|
|
|
NM_001905.4(CTPS1):c.305G>A (p.Arg102Gln)
|
|
|
NM_001905.4(CTPS1):c.332T>C (p.Val111Ala)
|
|
|
NM_001905.4(CTPS1):c.336A>G (p.Gln112=)
|
rs1642414869
|
|
NM_001905.4(CTPS1):c.370T>G (p.Trp124Gly)
|
rs1642483599
|
|
NM_001905.4(CTPS1):c.434T>C (p.Ile145Thr)
|
|
|
NM_001905.4(CTPS1):c.438+1G>A
|
rs2148392127
|
|
NM_001905.4(CTPS1):c.454G>A (p.Gly152Arg)
|
|
|
NM_001905.4(CTPS1):c.509T>G (p.Val170Gly)
|
|
|
NM_001905.4(CTPS1):c.555+5G>A
|
rs1292013147
|
|
NM_001905.4(CTPS1):c.555G>A (p.Gln185=)
|
|
|
NM_001905.4(CTPS1):c.555_555+997del
|
|
|
NM_001905.4(CTPS1):c.568G>A (p.Gly190Arg)
|
|
|
NM_001905.4(CTPS1):c.584A>C (p.Lys195Thr)
|
rs2148397688
|
|
NM_001905.4(CTPS1):c.586C>T (p.Pro196Ser)
|
rs1642600970
|
|
NM_001905.4(CTPS1):c.607G>C (p.Glu203Gln)
|
rs1433781145
|
|
NM_001905.4(CTPS1):c.636T>A (p.Asp212Glu)
|
rs1558142847
|
|
NM_001905.4(CTPS1):c.720+1G>A
|
rs1381936067
|
|
NM_001905.4(CTPS1):c.752A>G (p.Tyr251Cys)
|
rs2148404103
|
|
NM_001905.4(CTPS1):c.820A>G (p.Ile274Val)
|
|
|
NM_001905.4(CTPS1):c.821T>C (p.Ile274Thr)
|
|
|
NM_001905.4(CTPS1):c.872+4T>A
|
|
|
NM_001905.4(CTPS1):c.873-3T>C
|
|
|
NM_001905.4(CTPS1):c.881G>A (p.Arg294His)
|
|
|
NM_001905.4(CTPS1):c.988C>A (p.His330Asn)
|
rs1553180295
|
|
NM_001905.4(CTPS1):c.98A>T (p.His33Leu)
|
|
|
NM_032415.7(CARD11):c.1000G>A (p.Glu334Lys)
|
|
|
NM_032415.7(CARD11):c.1010G>A (p.Arg337Gln)
|
|
|
NM_032415.7(CARD11):c.1017+5G>A
|
|
|
NM_032415.7(CARD11):c.103C>T (p.Arg35Cys)
|
rs1780508141
|
|
NM_032415.7(CARD11):c.1040T>C (p.Leu347Pro)
|
|
|
NM_032415.7(CARD11):c.1055C>T (p.Ser352Leu)
|
rs1583398561
|
|
NM_032415.7(CARD11):c.1084A>G (p.Lys362Glu)
|
rs1780131821
|
|
NM_032415.7(CARD11):c.1085A>G (p.Lys362Arg)
|
|
|
NM_032415.7(CARD11):c.1086G>C (p.Lys362Asn)
|
|
|
NM_032415.7(CARD11):c.1090C>T (p.Arg364Cys)
|
rs1780131653
|
|
NM_032415.7(CARD11):c.1145C>A (p.Ala382Asp)
|
|
|
NM_032415.7(CARD11):c.1145C>G (p.Ala382Gly)
|
rs776851896
|
|
NM_032415.7(CARD11):c.1150C>T (p.His384Tyr)
|
rs747416751
|
|
NM_032415.7(CARD11):c.1157G>A (p.Arg386Gln)
|
|
|
NM_032415.7(CARD11):c.1180T>C (p.Ser394Pro)
|
rs2115069197
|
|
NM_032415.7(CARD11):c.1181C>T (p.Ser394Leu)
|
|
|
NM_032415.7(CARD11):c.1186T>G (p.Cys396Gly)
|
rs1583397573
|
|
NM_032415.7(CARD11):c.1199A>G (p.Lys400Arg)
|
|
|
NM_032415.7(CARD11):c.1202A>T (p.Asp401Val)
|
rs1562490891
|
|
NM_032415.7(CARD11):c.1210A>G (p.Arg404Gly)
|
rs1780105726
|
|
NM_032415.7(CARD11):c.1236G>C (p.Glu412Asp)
|
|
|
NM_032415.7(CARD11):c.1245C>A (p.Asp415Glu)
|
|
|
NM_032415.7(CARD11):c.1250T>A (p.Met417Lys)
|
rs773541566
|
|
NM_032415.7(CARD11):c.1250T>G (p.Met417Arg)
|
|
|
NM_032415.7(CARD11):c.125T>G (p.Leu42Arg)
|
rs1780507887
|
|
NM_032415.7(CARD11):c.1268G>A (p.Arg423Gln)
|
|
|
NM_032415.7(CARD11):c.1316C>T (p.Ser439Phe)
|
rs760856731
|
|
NM_032415.7(CARD11):c.1328A>G (p.Asn443Ser)
|
|
|
NM_032415.7(CARD11):c.1341+14G>T
|
|
|
NM_032415.7(CARD11):c.1341+15G>A
|
|
|
NM_032415.7(CARD11):c.1341+3G>T
|
rs939644628
|
|
NM_032415.7(CARD11):c.1357C>A (p.Leu453Met)
|
|
|
NM_032415.7(CARD11):c.1363G>A (p.Val455Ile)
|
|
|
NM_032415.7(CARD11):c.1369A>G (p.Ile457Val)
|
|
|
NM_032415.7(CARD11):c.136C>G (p.Leu46Val)
|
rs149740754
|
|
NM_032415.7(CARD11):c.1373T>C (p.Ile458Thr)
|
|
|
NM_032415.7(CARD11):c.137T>C (p.Leu46Pro)
|
|
|
NM_032415.7(CARD11):c.139C>A (p.Arg47Ser)
|
rs1780507453
|
|
NM_032415.7(CARD11):c.139C>T (p.Arg47Cys)
|
rs1780507453
|
|
NM_032415.7(CARD11):c.13G>A (p.Gly5Arg)
|
|
|
NM_032415.7(CARD11):c.1400C>T (p.Pro467Leu)
|
rs1583394247
|
|
NM_032415.7(CARD11):c.1402A>G (p.Arg468Gly)
|
|
|
NM_032415.7(CARD11):c.1406C>T (p.Thr469Ile)
|
rs2115064365
|
|
NM_032415.7(CARD11):c.1409A>G (p.Asn470Ser)
|
|
|
NM_032415.7(CARD11):c.1412G>T (p.Gly471Val)
|
|
|
NM_032415.7(CARD11):c.1432T>C (p.Ser478Pro)
|
rs1048220030
|
|
NM_032415.7(CARD11):c.1435A>G (p.Thr479Ala)
|
|
|
NM_032415.7(CARD11):c.1458C>A (p.Asp486Glu)
|
|
|
NM_032415.7(CARD11):c.1460G>A (p.Ser487Asn)
|
rs1583394168
|
|
NM_032415.7(CARD11):c.1460G>C (p.Ser487Thr)
|
rs1583394168
|
|
NM_032415.7(CARD11):c.1480C>A (p.His494Asn)
|
|
|
NM_032415.7(CARD11):c.1493G>A (p.Arg498His)
|
|
|
NM_032415.7(CARD11):c.1496G>A (p.Arg499Lys)
|
rs774299169
|
|
NM_032415.7(CARD11):c.150G>C (p.Lys50Asn)
|
rs1282104067
|
|
NM_032415.7(CARD11):c.1519C>T (p.Leu507=)
|
rs1779925230
|
|
NM_032415.7(CARD11):c.1521G>T (p.Leu507=)
|
|
|
NM_032415.7(CARD11):c.1535C>G (p.Ser512Cys)
|
rs1562488034
|
|
NM_032415.7(CARD11):c.1585G>A (p.Glu529Lys)
|
|
|
NM_032415.7(CARD11):c.1600_1601delinsAA (p.Ala534Asn)
|
rs2115056168
|
|
NM_032415.7(CARD11):c.1606C>T (p.Pro536Ser)
|
|
|
NM_032415.7(CARD11):c.1637A>G (p.Asn546Ser)
|
|
|
NM_032415.7(CARD11):c.1646C>T (p.Thr549Ile)
|
|
|
NM_032415.7(CARD11):c.1656G>C (p.Gln552His)
|
rs1779801164
|
|
NM_032415.7(CARD11):c.1657C>A (p.Pro553Thr)
|
|
|
NM_032415.7(CARD11):c.1658C>A (p.Pro553His)
|
rs138608490
|
|
NM_032415.7(CARD11):c.1658_1659delinsAT (p.Pro553His)
|
|
|
NM_032415.7(CARD11):c.1661_1663del (p.Pro554del)
|
|
|
NM_032415.7(CARD11):c.1666A>G (p.Ser556Gly)
|
|
|
NM_032415.7(CARD11):c.1682T>A (p.Met561Lys)
|
|
|
NM_032415.7(CARD11):c.1691C>T (p.Thr564Ile)
|
|
|
NM_032415.7(CARD11):c.1738G>A (p.Asp580Asn)
|
|
|
NM_032415.7(CARD11):c.173A>G (p.Asp58Gly)
|
rs1780506565
|
|
NM_032415.7(CARD11):c.173A>T (p.Asp58Val)
|
rs1780506565
|
|
NM_032415.7(CARD11):c.1750C>T (p.Arg584Cys)
|
rs1251262286
|
|
NM_032415.7(CARD11):c.1751G>A (p.Arg584His)
|
|
|
NM_032415.7(CARD11):c.1752C>T (p.Arg584=)
|
rs1583385554
|
|
NM_032415.7(CARD11):c.1754+16G>T
|
|
|
NM_032415.7(CARD11):c.1793C>T (p.Ala598Val)
|
|
|
NM_032415.7(CARD11):c.179T>A (p.Val60Glu)
|
rs1583410780
|
|
NM_032415.7(CARD11):c.1806T>C (p.Asp602=)
|
|
|
NM_032415.7(CARD11):c.1810G>A (p.Asp604Asn)
|
rs1562484010
|
|
NM_032415.7(CARD11):c.1816C>A (p.His606Asn)
|
|
|
NM_032415.7(CARD11):c.181C>T (p.Leu61Phe)
|
rs1780506319
|
|
NM_032415.7(CARD11):c.1822C>A (p.Arg608Ser)
|
|
|
NM_032415.7(CARD11):c.182T>G (p.Leu61Arg)
|
rs1780506229
|
|
NM_032415.7(CARD11):c.1852TCC[6] (p.Ser622_His623insSer)
|
|
|
NM_032415.7(CARD11):c.1858T>A (p.Ser620Thr)
|
|
|
NM_032415.7(CARD11):c.1867C>A (p.His623Asn)
|
|
|
NM_032415.7(CARD11):c.1875C>A (p.Ser625=)
|
rs138416850
|
|
NM_032415.7(CARD11):c.1876G>A (p.Glu626Lys)
|
rs1286585074
|
|
NM_032415.7(CARD11):c.1911C>T (p.Asn637=)
|
|
|
NM_032415.7(CARD11):c.191C>G (p.Pro64Arg)
|
rs1583410771
|
|
NM_032415.7(CARD11):c.1926G>T (p.Lys642Asn)
|
|
|
NM_032415.7(CARD11):c.193A>G (p.Met65Val)
|
rs1554276629
|
|
NM_032415.7(CARD11):c.1940+5C>T
|
|
|
NM_032415.7(CARD11):c.1951C>A (p.Pro651Thr)
|
|
|
NM_032415.7(CARD11):c.1978C>T (p.Arg660Trp)
|
|
|
NM_032415.7(CARD11):c.1996G>A (p.Val666Met)
|
|
|
NM_032415.7(CARD11):c.2047C>G (p.Leu683Val)
|
|
|
NM_032415.7(CARD11):c.2055C>T (p.Gly685=)
|
rs374351706
|
|
NM_032415.7(CARD11):c.2074G>C (p.Val692Leu)
|
|
|
NM_032415.7(CARD11):c.2079C>G (p.His693Gln)
|
|
|
NM_032415.7(CARD11):c.2083G>A (p.Val695Ile)
|
|
|
NM_032415.7(CARD11):c.2089C>A (p.Pro697Thr)
|
rs2115044660
|
|
NM_032415.7(CARD11):c.2093G>A (p.Gly698Asp)
|
rs770528584
|
|
NM_032415.7(CARD11):c.2093G>C (p.Gly698Ala)
|
|
|
NM_032415.7(CARD11):c.2101G>C (p.Ala701Pro)
|
|
|
NM_032415.7(CARD11):c.2102C>T (p.Ala701Val)
|
rs1779619747
|
|
NM_032415.7(CARD11):c.2130C>A (p.His710Gln)
|
rs1487587630
|
|
NM_032415.7(CARD11):c.213C>G (p.Asn71Lys)
|
|
|
NM_032415.7(CARD11):c.2142+3G>A
|
|
|
NM_032415.7(CARD11):c.2142+6G>A
|
|
|
NM_032415.7(CARD11):c.2142G>C (p.Leu714=)
|
|
|
NM_032415.7(CARD11):c.2143-11_2143-10del
|
|
|
NM_032415.7(CARD11):c.2148A>C (p.Glu716Asp)
|
|
|
NM_032415.7(CARD11):c.2148A>T (p.Glu716Asp)
|
rs2115043836
|
|
NM_032415.7(CARD11):c.214C>G (p.Arg72Gly)
|
rs1780505575
|
|
NM_032415.7(CARD11):c.2150G>C (p.Gly717Ala)
|
|
|
NM_032415.7(CARD11):c.215G>A (p.Arg72Gln)
|
rs2115093887
|
|
NM_032415.7(CARD11):c.2179C>T (p.Pro727Ser)
|
|
|
NM_032415.7(CARD11):c.2198A>G (p.Lys733Arg)
|
rs1779603734
|
|
NM_032415.7(CARD11):c.220+19_220+20insCCTTAGGACCTCTTTTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC
|
|
|
NM_032415.7(CARD11):c.220+1G>A
|
rs1554276623
|
|
NM_032415.7(CARD11):c.2219T>C (p.Ile740Thr)
|
|
|
NM_032415.7(CARD11):c.221G>A (p.Gly74Asp)
|
|
|
NM_032415.7(CARD11):c.2236C>T (p.Pro746Ser)
|
rs941925891
|
|
NM_032415.7(CARD11):c.223C>T (p.Arg75Trp)
|
rs2115090664
|
|
NM_032415.7(CARD11):c.224G>A (p.Arg75Gln)
|
rs1064795280
|
|
NM_032415.7(CARD11):c.2261A>G (p.Asn754Ser)
|
|
|
NM_032415.7(CARD11):c.2290G>A (p.Asp764Asn)
|
rs1779490616
|
|
NM_032415.7(CARD11):c.2293A>G (p.Met765Val)
|
|
|
NM_032415.7(CARD11):c.2305C>G (p.Leu769Val)
|
rs954550725
|
|
NM_032415.7(CARD11):c.230T>C (p.Leu77Ser)
|
|
|
NM_032415.7(CARD11):c.2335C>T (p.Arg779Trp)
|
|
|
NM_032415.7(CARD11):c.2342A>G (p.Asn781Ser)
|
|
|
NM_032415.7(CARD11):c.2350A>G (p.Ile784Val)
|
|
|
NM_032415.7(CARD11):c.2388G>C (p.Lys796Asn)
|
rs2115038408
|
|
NM_032415.7(CARD11):c.2395G>A (p.Asp799Asn)
|
rs587778152
|
|
NM_032415.7(CARD11):c.2397T>A (p.Asp799Glu)
|
rs766040946
|
|
NM_032415.7(CARD11):c.2420T>C (p.Met807Thr)
|
rs2115038345
|
|
NM_032415.7(CARD11):c.2423A>G (p.Tyr808Cys)
|
|
|
NM_032415.7(CARD11):c.2446T>G (p.Cys816Gly)
|
rs1583372341
|
|
NM_032415.7(CARD11):c.2461C>A (p.Pro821Thr)
|
|
|
NM_032415.7(CARD11):c.2462C>G (p.Pro821Arg)
|
|
|
NM_032415.7(CARD11):c.2473C>T (p.His825Tyr)
|
rs929355549
|
|
NM_032415.7(CARD11):c.247A>G (p.Lys83Glu)
|
|
|
NM_032415.7(CARD11):c.2487G>T (p.Met829Ile)
|
|
|
NM_032415.7(CARD11):c.2503_2508del (p.Tyr835_Ser836del)
|
|
|
NM_032415.7(CARD11):c.2513C>T (p.Ala838Val)
|
|
|
NM_032415.7(CARD11):c.2516A>G (p.Gln839Arg)
|
|
|
NM_032415.7(CARD11):c.2522_2523delinsAA (p.Leu841Gln)
|
|
|
NM_032415.7(CARD11):c.2539C>A (p.Gln847Lys)
|
|
|
NM_032415.7(CARD11):c.2553C>G (p.His851Gln)
|
rs1562480665
|
|
NM_032415.7(CARD11):c.2563C>T (p.Arg855Trp)
|
rs772266095
|
|
NM_032415.7(CARD11):c.2564G>C (p.Arg855Pro)
|
|
|
NM_032415.7(CARD11):c.2582C>G (p.Thr861Ser)
|
|
|
NM_032415.7(CARD11):c.2647C>T (p.Pro883Ser)
|
rs777569549
|
|
NM_032415.7(CARD11):c.2650C>G (p.Arg884Gly)
|
|
|
NM_032415.7(CARD11):c.2662C>A (p.Arg888Ser)
|
rs142828146
|
|
NM_032415.7(CARD11):c.2703+3A>G
|
|
|
NM_032415.7(CARD11):c.2703G>A (p.Gln901=)
|
rs1242710789
|
|
NM_032415.7(CARD11):c.2703G>T (p.Gln901His)
|
|
|
NM_032415.7(CARD11):c.2711G>A (p.Ser904Asn)
|
rs754422604
|
|
NM_032415.7(CARD11):c.2716T>C (p.Ser906Pro)
|
|
|
NM_032415.7(CARD11):c.2752C>T (p.Arg918Trp)
|
rs769806908
|
|
NM_032415.7(CARD11):c.2786G>T (p.Ser929Ile)
|
rs2115032506
|
|
NM_032415.7(CARD11):c.2809G>A (p.Ala937Thr)
|
|
|
NM_032415.7(CARD11):c.2822T>C (p.Leu941Ser)
|
|
|
NM_032415.7(CARD11):c.2823G>T (p.Leu941Phe)
|
|
|
NM_032415.7(CARD11):c.2837A>G (p.Glu946Gly)
|
|
|
NM_032415.7(CARD11):c.2839+5A>C
|
|
|
NM_032415.7(CARD11):c.2839+5A>G
|
|
|
NM_032415.7(CARD11):c.2840A>G (p.Glu947Gly)
|
|
|
NM_032415.7(CARD11):c.2853G>C (p.Glu951Asp)
|
|
|
NM_032415.7(CARD11):c.2857G>A (p.Glu953Lys)
|
|
|
NM_032415.7(CARD11):c.2866A>G (p.Lys956Glu)
|
|
|
NM_032415.7(CARD11):c.2870A>C (p.Asn957Thr)
|
|
|
NM_032415.7(CARD11):c.2875A>G (p.Ser959Gly)
|
rs1429376486
|
|
NM_032415.7(CARD11):c.2913C>G (p.Cys971Trp)
|
rs61757651
|
|
NM_032415.7(CARD11):c.2914G>C (p.Glu972Gln)
|
rs747655872
|
|
NM_032415.7(CARD11):c.2918G>A (p.Arg973His)
|
|
|
NM_032415.7(CARD11):c.2923C>T (p.Arg975Trp)
|
rs1064795307
|
|
NM_032415.7(CARD11):c.2924G>A (p.Arg975Gln)
|
rs764229454
|
|
NM_032415.7(CARD11):c.2926C>T (p.Pro976Ser)
|
rs1779271387
|
|
NM_032415.7(CARD11):c.2984C>T (p.Ser995Leu)
|
|
|
NM_032415.7(CARD11):c.3010T>G (p.Cys1004Gly)
|
|
|
NM_032415.7(CARD11):c.3015G>C (p.Lys1005Asn)
|
|
|
NM_032415.7(CARD11):c.3021T>G (p.Asp1007Glu)
|
|
|
NM_032415.7(CARD11):c.3031A>G (p.Arg1011Gly)
|
rs2115026732
|
|
NM_032415.7(CARD11):c.305T>G (p.Leu102Arg)
|
rs1424722453
|
|
NM_032415.7(CARD11):c.3086A>G (p.Lys1029Arg)
|
rs1779213628
|
|
NM_032415.7(CARD11):c.3098C>T (p.Ala1033Val)
|
|
|
NM_032415.7(CARD11):c.3100T>A (p.Phe1034Ile)
|
|
|
NM_032415.7(CARD11):c.3104A>T (p.Glu1035Val)
|
|
|
NM_032415.7(CARD11):c.3107G>A (p.Cys1036Tyr)
|
rs1562476878
|
|
NM_032415.7(CARD11):c.3118G>A (p.Ala1040Thr)
|
|
|
NM_032415.7(CARD11):c.3129A>C (p.Glu1043Asp)
|
rs1583360716
|
|
NM_032415.7(CARD11):c.3136GCC[1] (p.Ala1047del)
|
|
|
NM_032415.7(CARD11):c.3145-5C>G
|
rs771063736
|
|
NM_032415.7(CARD11):c.3145-7C>G
|
|
|
NM_032415.7(CARD11):c.3175G>C (p.Gly1059Arg)
|
rs376446854
|
|
NM_032415.7(CARD11):c.3198G>C (p.Lys1066Asn)
|
rs1175693250
|
|
NM_032415.7(CARD11):c.3213del (p.Ile1072fs)
|
rs2115023098
|
|
NM_032415.7(CARD11):c.3213dup (p.Ile1072fs)
|
rs2115023098
|
|
NM_032415.7(CARD11):c.3226A>C (p.Ile1076Leu)
|
rs1779139292
|
|
NM_032415.7(CARD11):c.3230G>A (p.Arg1077Gln)
|
|
|
NM_032415.7(CARD11):c.3251A>G (p.Lys1084Arg)
|
|
|
NM_032415.7(CARD11):c.3260+3A>G
|
|
|
NM_032415.7(CARD11):c.3260+4G>C
|
|
|
NM_032415.7(CARD11):c.3268C>G (p.Leu1090Val)
|
|
|
NM_032415.7(CARD11):c.3274C>T (p.Arg1092Ter)
|
|
|
NM_032415.7(CARD11):c.3276_3277inv (p.Pro1093Ser)
|
|
|
NM_032415.7(CARD11):c.3286GAG[2] (p.Glu1098del)
|
|
|
NM_032415.7(CARD11):c.3295T>A (p.Phe1099Ile)
|
|
|
NM_032415.7(CARD11):c.3308G>A (p.Cys1103Tyr)
|
|
|
NM_032415.7(CARD11):c.3319_3321del (p.Glu1107del)
|
rs770299746
|
|
NM_032415.7(CARD11):c.3353C>A (p.Ala1118Asp)
|
|
|
NM_032415.7(CARD11):c.3355A>G (p.Thr1119Ala)
|
rs2115017572
|
|
NM_032415.7(CARD11):c.3367G>A (p.Asp1123Asn)
|
|
|
NM_032415.7(CARD11):c.3369C>A (p.Asp1123Glu)
|
|
|
NM_032415.7(CARD11):c.3369C>G (p.Asp1123Glu)
|
|
|
NM_032415.7(CARD11):c.3371T>C (p.Met1124Thr)
|
rs2115017537
|
|
NM_032415.7(CARD11):c.3374G>C (p.Trp1125Ser)
|
rs1779018486
|
|
NM_032415.7(CARD11):c.3380G>A (p.Ser1127Asn)
|
|
|
NM_032415.7(CARD11):c.3388G>A (p.Glu1130Lys)
|
|
|
NM_032415.7(CARD11):c.3400G>A (p.Val1134Ile)
|
rs759681668
|
|
NM_032415.7(CARD11):c.3421G>A (p.Glu1141Lys)
|
|
|
NM_032415.7(CARD11):c.3439A>C (p.Ile1147Leu)
|
rs1779016597
|
|
NM_032415.7(CARD11):c.349A>C (p.Thr117Pro)
|
|
|
NM_032415.7(CARD11):c.359-20T>G
|
|
|
NM_032415.7(CARD11):c.35T>C (p.Met12Thr)
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NM_032415.7(CARD11):c.365A>T (p.Glu122Val)
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NM_032415.7(CARD11):c.383C>T (p.Thr128Met)
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rs2115087053
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NM_032415.7(CARD11):c.388T>A (p.Phe130Ile)
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rs1554276147
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NM_032415.7(CARD11):c.392T>G (p.Leu131Arg)
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rs1562494873
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NM_032415.7(CARD11):c.3G>A (p.Met1Ile)
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rs746425765
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NM_032415.7(CARD11):c.427A>T (p.Lys143Ter)
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rs1562494844
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NM_032415.7(CARD11):c.430G>A (p.Ala144Thr)
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rs1267789041
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NM_032415.7(CARD11):c.453G>C (p.Glu151Asp)
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NM_032415.7(CARD11):c.465G>T (p.Arg155Ser)
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NM_032415.7(CARD11):c.470G>A (p.Arg157Gln)
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NM_032415.7(CARD11):c.487AAG[1] (p.Lys164del)
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NM_032415.7(CARD11):c.489G>C (p.Lys163Asn)
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NM_032415.7(CARD11):c.491A>C (p.Lys164Thr)
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rs1562494757
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NM_032415.7(CARD11):c.500C>T (p.Thr167Met)
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NM_032415.7(CARD11):c.518_535del (p.Leu173_Glu178del)
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rs1583406626
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NM_032415.7(CARD11):c.528C>G (p.Phe176Leu)
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NM_032415.7(CARD11):c.53A>C (p.Glu18Ala)
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NM_032415.7(CARD11):c.559C>T (p.Arg187Trp)
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NM_032415.7(CARD11):c.560G>A (p.Arg187Gln)
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NM_032415.7(CARD11):c.575A>G (p.Asp192Gly)
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NM_032415.7(CARD11):c.634A>G (p.Ser212Gly)
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rs2115086164
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NM_032415.7(CARD11):c.642GAA[1] (p.Lys215del)
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NM_032415.7(CARD11):c.645G>C (p.Lys215Asn)
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rs1293679015
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NM_032415.7(CARD11):c.647A>T (p.Asn216Ile)
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rs2115086129
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NM_032415.7(CARD11):c.7+3A>C
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rs907805565
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NM_032415.7(CARD11):c.7+4C>T
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NM_032415.7(CARD11):c.701A>C (p.His234Pro)
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rs1583400914
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NM_032415.7(CARD11):c.703C>T (p.Arg235Trp)
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NM_032415.7(CARD11):c.752T>C (p.Leu251Pro)
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rs1780193930
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NM_032415.7(CARD11):c.766G>T (p.Asp256Tyr)
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NM_032415.7(CARD11):c.772G>A (p.Glu258Lys)
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rs2115075207
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NM_032415.7(CARD11):c.778C>T (p.Arg260Trp)
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NM_032415.7(CARD11):c.779G>A (p.Arg260Gln)
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NM_032415.7(CARD11):c.781C>T (p.Pro261Ser)
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rs1562492241
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NM_032415.7(CARD11):c.8-5A>G
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rs2115094396
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NM_032415.7(CARD11):c.802G>A (p.Glu268Lys)
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NM_032415.7(CARD11):c.812G>C (p.Arg271Pro)
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rs777590674
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NM_032415.7(CARD11):c.824T>C (p.Met275Thr)
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rs2115074916
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NM_032415.7(CARD11):c.82T>C (p.Cys28Arg)
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NM_032415.7(CARD11):c.851A>C (p.Gln284Pro)
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rs2115074800
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NM_032415.7(CARD11):c.868G>A (p.Gly290Arg)
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NM_032415.7(CARD11):c.874C>T (p.Arg292Cys)
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rs771790639
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NM_032415.7(CARD11):c.883C>G (p.Pro295Ala)
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rs1378452081
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NM_032415.7(CARD11):c.892G>A (p.Asp298Asn)
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NM_032415.7(CARD11):c.895A>G (p.Lys299Glu)
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rs2115072708
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NM_032415.7(CARD11):c.89G>A (p.Arg30Gln)
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rs1554276653
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NM_032415.7(CARD11):c.8G>A (p.Gly3Glu)
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NM_032415.7(CARD11):c.922G>A (p.Asp308Asn)
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NM_032415.7(CARD11):c.922G>C (p.Asp308His)
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NM_032415.7(CARD11):c.937C>G (p.Leu313Val)
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rs753078856
|
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NM_032415.7(CARD11):c.943G>A (p.Asp315Asn)
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NM_032415.7(CARD11):c.945C>G (p.Asp315Glu)
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rs149430714
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NM_032415.7(CARD11):c.951G>C (p.Gln317His)
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NM_032415.7(CARD11):c.991C>T (p.Arg331Cys)
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NM_032415.7(CARD11):c.992G>C (p.Arg331Pro)
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NM_032415.7(CARD11):c.998C>T (p.Ala333Val)
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