NM_000400.4(ERCC2):c.2251A>C (p.Lys751Gln)
|
rs13181
|
0.31719
|
NM_000222.3(KIT):c.1621A>C (p.Met541Leu)
|
rs3822214
|
0.07727
|
NM_001370466.1(NOD2):c.2782G>A (p.Val928Ile)
|
rs5743291
|
0.06122
|
NM_000243.3(MEFV):c.442G>C (p.Glu148Gln)
|
rs3743930
|
0.02112
|
NM_000243.3(MEFV):c.1105C>T (p.Pro369Ser)
|
rs11466023
|
0.01590
|
NM_000243.3(MEFV):c.1223G>A (p.Arg408Gln)
|
rs11466024
|
0.01456
|
NM_001065.4(TNFRSF1A):c.362G>A (p.Arg121Gln)
|
rs4149584
|
0.01206
|
NM_001375808.2(LPIN2):c.2223C>T (p.Ala741=)
|
rs17555442
|
0.01175
|
NM_000243.3(MEFV):c.911-78T>C
|
rs11466021
|
0.01123
|
NM_000431.4(MVK):c.831C>T (p.Arg277=)
|
rs104895353
|
0.01061
|
NM_000243.3(MEFV):c.1772T>C (p.Ile591Thr)
|
rs11466045
|
0.01021
|
NM_000243.3(MEFV):c.1261-11T>G
|
rs77086855
|
0.00875
|
NM_001243133.2(NLRP3):c.592G>A (p.Val198Met)
|
rs121908147
|
0.00835
|
NM_000243.3(MEFV):c.1503C>T (p.Arg501=)
|
rs76464258
|
0.00733
|
NM_001243133.2(NLRP3):c.1231C>T (p.Leu411=)
|
rs148478875
|
0.00638
|
NM_001243133.2(NLRP3):c.1600C>T (p.Leu534=)
|
rs116054301
|
0.00596
|
NM_000243.3(MEFV):c.1260+92G>A
|
rs104895209
|
0.00590
|
NM_000243.3(MEFV):c.1587+33C>G
|
rs146820856
|
0.00556
|
NM_000243.3(MEFV):c.2084A>G (p.Lys695Arg)
|
rs104895094
|
0.00506
|
NM_000243.3(MEFV):c.1760-4G>A
|
rs79662406
|
0.00459
|
NM_003978.5(PSTPIP1):c.741+32_741+33dup
|
rs104895417
|
0.00363
|
NM_000431.4(MVK):c.769-7T>G
|
rs104895331
|
0.00354
|
NM_001243133.2(NLRP3):c.1389C>T (p.His463=)
|
rs111400208
|
0.00354
|
NM_000243.3(MEFV):c.1467G>A (p.Gln489=)
|
rs61732424
|
0.00341
|
NM_000243.3(MEFV):c.333G>A (p.Gly111=)
|
rs61732425
|
0.00339
|
NM_000431.4(MVK):c.78+177G>A
|
rs104895343
|
0.00328
|
NM_000243.3(MEFV):c.1759+8C>T
|
rs77380520
|
0.00321
|
NM_000243.3(MEFV):c.910G>A (p.Gly304Arg)
|
rs75977701
|
0.00316
|
NM_000431.4(MVK):c.768+23G>C
|
rs104895347
|
0.00314
|
NM_012275.3(IL36RN):c.338C>T (p.Ser113Leu)
|
rs144478519
|
0.00264
|
NM_000431.4(MVK):c.238G>A (p.Val80Ile)
|
rs76914224
|
0.00259
|
NM_001375808.2(LPIN2):c.1510C>T (p.Leu504Phe)
|
rs104895500
|
0.00253
|
NM_003977.4(AIP):c.47G>A (p.Arg16His)
|
rs145047094
|
0.00197
|
NM_000138.5(FBN1):c.3509G>A (p.Arg1170His)
|
rs137854475
|
0.00168
|
NM_001111.5(ADAR):c.577C>G (p.Pro193Ala)
|
rs145588689
|
0.00162
|
NM_001370466.1(NOD2):c.2325G>T (p.Val775=)
|
rs104895495
|
0.00157
|
NM_000431.4(MVK):c.1129G>A (p.Val377Ile)
|
rs28934897
|
0.00156
|
NM_000302.4(PLOD1):c.77-3358C>T
|
rs534978828
|
0.00153
|
NM_001370466.1(NOD2):c.800C>G (p.Thr267Ser)
|
rs104895425
|
0.00152
|
NM_001065.4(TNFRSF1A):c.552-89A>T
|
rs104895264
|
0.00150
|
NM_000243.3(MEFV):c.2177T>C (p.Val726Ala)
|
rs28940579
|
0.00147
|
NM_001375808.2(LPIN2):c.991G>T (p.Ala331Ser)
|
rs80338805
|
0.00142
|
NM_001370466.1(NOD2):c.2291G>A (p.Arg764Gln)
|
rs104895464
|
0.00137
|
NM_000243.3(MEFV):c.986G>A (p.Arg329His)
|
rs104895112
|
0.00133
|
NM_001370466.1(NOD2):c.2296G>A (p.Val766Met)
|
rs104895444
|
0.00127
|
NM_000243.3(MEFV):c.1792+39G>A
|
rs104895176
|
0.00115
|
NM_003977.4(AIP):c.911G>A (p.Arg304Gln)
|
rs104894190
|
0.00115
|
NM_001065.4(TNFRSF1A):c.39+97G>A
|
rs151344626
|
0.00107
|
NM_001370466.1(NOD2):c.1211C>T (p.Ser404Leu)
|
rs104895431
|
0.00103
|
NM_001370466.1(NOD2):c.-8-7T>A
|
rs104895421
|
0.00092
|
NM_001370466.1(NOD2):c.1707G>A (p.Thr569=)
|
rs104895437
|
0.00086
|
NM_001375808.2(LPIN2):c.1159A>G (p.Lys387Glu)
|
rs104895501
|
0.00083
|
NM_001367624.2(ZNF469):c.11425G>A (p.Glu3809Lys)
|
rs201834513
|
0.00081
|
NM_001243133.2(NLRP3):c.930C>T (p.Asp310=)
|
rs143840033
|
0.00076
|
NM_001370466.1(NOD2):c.2474A>G (p.Asn825Ser)
|
rs104895467
|
0.00076
|
NM_001370466.1(NOD2):c.2506A>G (p.Met836Val)
|
rs104895447
|
0.00073
|
NM_001243133.2(NLRP3):c.1463G>A (p.Arg488Lys)
|
rs145268073
|
0.00070
|
NM_003977.4(AIP):c.896C>T (p.Ala299Val)
|
rs148986773
|
0.00065
|
NM_001370466.1(NOD2):c.2057G>A (p.Arg686His)
|
rs104895483
|
0.00055
|
NM_003977.4(AIP):c.807C>T (p.Phe269=)
|
rs139407567
|
0.00055
|
NM_001370466.1(NOD2):c.2672C>A (p.Ala891Asp)
|
rs104895452
|
0.00051
|
NM_001370466.1(NOD2):c.850C>T (p.Arg284Trp)
|
rs104895427
|
0.00051
|
NM_001375808.2(LPIN2):c.1043C>T (p.Pro348Leu)
|
rs34676691
|
0.00051
|
NM_001065.4(TNFRSF1A):c.1075C>T (p.Leu359=)
|
rs151344628
|
0.00050
|
NM_207122.2(EXT2):c.1022C>T (p.Pro341Leu)
|
rs141035971
|
0.00044
|
NM_001282225.2(ADA2):c.506G>A (p.Arg169Gln)
|
rs77563738
|
0.00041
|
NM_001243133.2(NLRP3):c.1032G>A (p.Leu344=)
|
rs180177471
|
0.00039
|
NM_000431.4(MVK):c.79-62G>A
|
rs104895344
|
0.00038
|
NM_001065.4(TNFRSF1A):c.369C>T (p.Thr123=)
|
rs104895260
|
0.00036
|
NM_004972.4(JAK2):c.1849G>T (p.Val617Phe)
|
rs77375493
|
0.00036
|
NM_000243.3(MEFV):c.1260+10C>T
|
rs104895137
|
0.00035
|
NM_000243.3(MEFV):c.372C>T (p.Pro124=)
|
rs104895078
|
0.00035
|
NM_000038.6(APC):c.607C>G (p.Gln203Glu)
|
rs141576417
|
0.00034
|
NM_001370466.1(NOD2):c.1240G>A (p.Glu414Lys)
|
rs104895432
|
0.00034
|
NM_001375808.2(LPIN2):c.2671G>A (p.Asp891Asn)
|
rs200648652
|
0.00034
|
NM_000243.3(MEFV):c.926C>T (p.Thr309Met)
|
rs104895155
|
0.00032
|
NM_004364.5(CEBPA):c.724G>A (p.Gly242Ser)
|
rs530569305
|
0.00031
|
NM_000243.3(MEFV):c.1827C>G (p.Pro609=)
|
rs104895135
|
0.00029
|
NM_007046.4(EMILIN1):c.1781G>A (p.Arg594His)
|
rs200339477
|
0.00027
|
NM_001370466.1(NOD2):c.662T>G (p.Leu221Arg)
|
rs104895423
|
0.00026
|
NM_001243133.2(NLRP3):c.937A>G (p.Ile313Val)
|
rs180177501
|
0.00025
|
NM_004119.3(FLT3):c.2211G>C (p.Met737Ile)
|
rs148592477
|
0.00025
|
NM_001370466.1(NOD2):c.989A>C (p.Asp330Ala)
|
rs104895469
|
0.00024
|
NM_000243.3(MEFV):c.1760-28T>A
|
rs104895169
|
0.00022
|
NM_000243.3(MEFV):c.1795A>G (p.Asn599Asp)
|
rs104895210
|
0.00021
|
NM_000431.4(MVK):c.829C>T (p.Arg277Cys)
|
rs104895321
|
0.00021
|
NM_001370466.1(NOD2):c.1036C>T (p.Arg346Cys)
|
rs145293873
|
0.00021
|
NM_000243.3(MEFV):c.1370C>T (p.Ala457Val)
|
rs104895151
|
0.00020
|
NM_001243133.2(NLRP3):c.1383C>T (p.Cys461=)
|
rs104895398
|
0.00020
|
NM_001370466.1(NOD2):c.2251G>A (p.Glu751Lys)
|
rs104895443
|
0.00020
|
NM_001243133.2(NLRP3):c.674C>T (p.Ala225Val)
|
rs180177493
|
0.00019
|
NM_001370466.1(NOD2):c.1200G>A (p.Pro400=)
|
rs104895430
|
0.00019
|
NM_000431.4(MVK):c.803T>C (p.Ile268Thr)
|
rs104895304
|
0.00018
|
NM_001282225.2(ADA2):c.973-2A>G
|
rs139750129
|
0.00018
|
NM_000243.3(MEFV):c.1245C>T (p.Val415=)
|
rs104895195
|
0.00017
|
NM_000243.3(MEFV):c.1016C>T (p.Ser339Phe)
|
rs104895157
|
0.00016
|
NM_000243.3(MEFV):c.297C>T (p.Asn99=)
|
rs104895175
|
0.00016
|
NM_001065.4(TNFRSF1A):c.194-14G>A
|
rs104895241
|
0.00016
|
NM_000243.3(MEFV):c.1261-28A>G
|
rs104895140
|
0.00015
|
NM_000243.3(MEFV):c.1518C>T (p.Ile506=)
|
rs104895099
|
0.00015
|
NM_000243.3(MEFV):c.1502G>A (p.Arg501His)
|
rs104895196
|
0.00014
|
NM_000431.4(MVK):c.877G>A (p.Val293Met)
|
rs104895356
|
0.00013
|
NM_001370466.1(NOD2):c.622C>T (p.Arg208Cys)
|
rs104895422
|
0.00013
|
NM_003978.5(PSTPIP1):c.856A>G (p.Asn286Asp)
|
rs377437961
|
0.00013
|
NM_000243.3(MEFV):c.2080A>G (p.Met694Val)
|
rs61752717
|
0.00012
|
NM_000243.3(MEFV):c.800C>T (p.Thr267Ile)
|
rs104895081
|
0.00011
|
NM_001370466.1(NOD2):c.1709C>T (p.Ala570Val)
|
rs377554134
|
0.00011
|
NM_014314.4(RIGI):c.2728G>T (p.Asp910Tyr)
|
rs377348789
|
0.00011
|
NM_000243.3(MEFV):c.1043G>A (p.Arg348His)
|
rs104895198
|
0.00010
|
NM_000243.3(MEFV):c.2282G>A (p.Arg761His)
|
rs104895097
|
0.00010
|
NM_001065.4(TNFRSF1A):c.249G>A (p.Glu83=)
|
rs104895265
|
0.00010
|
NM_001243133.2(NLRP3):c.944C>T (p.Pro315Leu)
|
rs180177462
|
0.00010
|
NM_001282225.2(ADA2):c.139G>A (p.Gly47Arg)
|
rs202134424
|
0.00010
|
NM_001370466.1(NOD2):c.2099C>T (p.Pro700Leu)
|
rs104895489
|
0.00010
|
NM_001370466.1(NOD2):c.234G>A (p.Ala78=)
|
rs104895419
|
0.00010
|
NM_001370466.1(NOD2):c.32G>T (p.Arg11Met)
|
rs104895487
|
0.00010
|
NM_001370466.1(NOD2):c.332G>A (p.Arg111Gln)
|
rs104895456
|
0.00010
|
NM_030777.4(SLC2A10):c.394C>T (p.Arg132Trp)
|
rs121908173
|
0.00010
|
NM_030777.4(SLC2A10):c.691C>T (p.Arg231Trp)
|
rs146579504
|
0.00010
|
NM_000431.4(MVK):c.591C>T (p.His197=)
|
rs104895329
|
0.00009
|
NM_001065.4(TNFRSF1A):c.473-16G>A
|
rs104895251
|
0.00008
|
NM_001370466.1(NOD2):c.2290C>T (p.Arg764Trp)
|
rs104895484
|
0.00008
|
NM_001370466.1(NOD2):c.2446G>A (p.Glu816Lys)
|
rs104895445
|
0.00008
|
NM_000243.3(MEFV):c.1958G>A (p.Arg653His)
|
rs104895085
|
0.00007
|
NM_000243.3(MEFV):c.453G>C (p.Arg151Ser)
|
rs104895185
|
0.00007
|
NM_000243.3(MEFV):c.663G>C (p.Pro221=)
|
rs104895162
|
0.00007
|
NM_000431.4(MVK):c.346T>C (p.Tyr116His)
|
rs104895382
|
0.00007
|
NM_001282225.2(ADA2):c.1358A>G (p.Tyr453Cys)
|
rs376785840
|
0.00007
|
NM_001999.4(FBN2):c.8530G>A (p.Val2844Ile)
|
rs147134796
|
0.00007
|
NM_012275.3(IL36RN):c.436A>G (p.Ile146Val)
|
rs202059991
|
0.00007
|
NM_000243.3(MEFV):c.2033G>A (p.Gly678Glu)
|
rs104895088
|
0.00006
|
NM_000243.3(MEFV):c.2049G>A (p.Ser683=)
|
rs104895092
|
0.00006
|
NM_000243.3(MEFV):c.2082G>A (p.Met694Ile)
|
rs28940578
|
0.00006
|
NM_000243.3(MEFV):c.657C>T (p.Gly219=)
|
rs104895182
|
0.00006
|
NM_000243.3(MEFV):c.866C>T (p.Ala289Val)
|
rs104895132
|
0.00006
|
NM_000431.4(MVK):c.1000G>A (p.Ala334Thr)
|
rs104895317
|
0.00006
|
NM_000431.4(MVK):c.769-103C>T
|
rs104895351
|
0.00006
|
NM_001367624.2(ZNF469):c.5779C>T (p.Pro1927Ser)
|
rs537085488
|
0.00006
|
NM_001370466.1(NOD2):c.2690G>A (p.Gly897Asp)
|
rs104895453
|
0.00006
|
NM_001370466.1(NOD2):c.388T>C (p.Trp130Arg)
|
rs104895420
|
0.00006
|
NM_001852.4(COL9A2):c.1123C>G (p.Arg375Gly)
|
rs375476174
|
0.00006
|
NM_003977.4(AIP):c.145G>A (p.Val49Met)
|
rs1063385
|
0.00006
|
NM_022168.4(IFIH1):c.2893G>A (p.Gly965Ser)
|
rs202009944
|
0.00006
|
NM_144687.4(NLRP12):c.1027C>T (p.Arg343Trp)
|
rs112159191
|
0.00006
|
NM_000243.3(MEFV):c.2337G>C (p.Gly779=)
|
rs104895153
|
0.00005
|
NM_000431.4(MVK):c.1067C>T (p.Thr356Met)
|
rs104895342
|
0.00005
|
NM_000431.4(MVK):c.1139A>G (p.His380Arg)
|
rs104895324
|
0.00005
|
NM_000431.4(MVK):c.394G>A (p.Val132Ile)
|
rs104895336
|
0.00005
|
NM_000431.4(MVK):c.644G>A (p.Arg215Gln)
|
rs104895303
|
0.00005
|
NM_001065.4(TNFRSF1A):c.168G>A (p.Ser56=)
|
rs104895280
|
0.00005
|
NM_001065.4(TNFRSF1A):c.434A>G (p.Asn145Ser)
|
rs104895288
|
0.00005
|
NM_001558.4(IL10RA):c.712A>G (p.Ile238Val)
|
rs200227183
|
0.00005
|
NM_030777.4(SLC2A10):c.313C>T (p.Arg105Cys)
|
rs767864243
|
0.00005
|
NM_000243.3(MEFV):c.*21C>G
|
rs104895200
|
0.00004
|
NM_000243.3(MEFV):c.1060C>T (p.Arg354Trp)
|
rs104895116
|
0.00004
|
NM_000243.3(MEFV):c.1776C>T (p.Gly592=)
|
rs104895161
|
0.00004
|
NM_000243.3(MEFV):c.2109C>T (p.Ser703=)
|
rs104895118
|
0.00004
|
NM_000243.3(MEFV):c.501G>C (p.Glu167Asp)
|
rs104895079
|
0.00004
|
NM_000243.3(MEFV):c.775A>G (p.Ile259Val)
|
rs104895144
|
0.00004
|
NM_000243.3(MEFV):c.941G>A (p.Arg314His)
|
rs104895204
|
0.00004
|
NM_000431.4(MVK):c.442G>A (p.Ala148Thr)
|
rs104895298
|
0.00004
|
NM_000431.4(MVK):c.608T>C (p.Val203Ala)
|
rs104895332
|
0.00004
|
NM_000431.4(MVK):c.863C>T (p.Pro288Leu)
|
rs104895355
|
0.00004
|
NM_001171.6(ABCC6):c.1552C>T (p.Arg518Ter)
|
rs72650700
|
0.00004
|
NM_001171.6(ABCC6):c.4182del (p.Lys1394fs)
|
rs67791546
|
0.00004
|
NM_001282225.2(ADA2):c.752C>T (p.Pro251Leu)
|
rs148936893
|
0.00004
|
NM_001367624.2(ZNF469):c.3332T>C (p.Phe1111Ser)
|
rs765069829
|
0.00004
|
NM_001370466.1(NOD2):c.1198C>T (p.Pro400Ser)
|
rs760982375
|
0.00004
|
NM_001370466.1(NOD2):c.2736T>C (p.Ile912=)
|
rs104895454
|
0.00004
|
NM_001370466.1(NOD2):c.2844C>T (p.Leu948=)
|
rs104895463
|
0.00004
|
NM_001370466.1(NOD2):c.2852G>A (p.Gly951Glu)
|
rs104895457
|
0.00004
|
NM_001370466.1(NOD2):c.821C>T (p.Ala274Val)
|
rs104895426
|
0.00004
|
NM_001999.4(FBN2):c.3805A>G (p.Ser1269Gly)
|
rs765649978
|
0.00004
|
NM_002661.5(PLCG2):c.502A>G (p.Thr168Ala)
|
rs753974933
|
0.00004
|
NM_003977.4(AIP):c.135C>T (p.Asp45=)
|
rs181969066
|
0.00004
|
NM_003977.4(AIP):c.584T>C (p.Val195Ala)
|
rs267606561
|
0.00004
|
NM_004972.4(JAK2):c.2571+5A>C
|
rs775085241
|
0.00004
|
NM_030777.4(SLC2A10):c.1276G>T (p.Gly426Trp)
|
rs121908172
|
0.00004
|
NM_000243.3(MEFV):c.1179C>T (p.Pro393=)
|
rs104895082
|
0.00003
|
NM_000243.3(MEFV):c.1937C>T (p.Pro646Leu)
|
rs104895107
|
0.00003
|
NM_000243.3(MEFV):c.1938G>A (p.Pro646=)
|
rs104895160
|
0.00003
|
NM_000243.3(MEFV):c.195C>T (p.Tyr65=)
|
rs104895077
|
0.00003
|
NM_000243.3(MEFV):c.2110G>A (p.Val704Ile)
|
rs104895096
|
0.00003
|
NM_000243.3(MEFV):c.2164G>A (p.Val722Met)
|
rs104895201
|
0.00003
|
NM_000243.3(MEFV):c.2229C>T (p.Phe743=)
|
rs104895152
|
0.00003
|
NM_000243.3(MEFV):c.2263A>G (p.Ile755Val)
|
rs104895194
|
0.00003
|
NM_000431.4(MVK):c.790C>T (p.Leu264Phe)
|
rs104895315
|
0.00003
|
NM_000431.4(MVK):c.857C>T (p.Pro286Leu)
|
rs104895379
|
0.00003
|
NM_001065.2(TNFRSF1A):c.-559G>A
|
rs151344625
|
0.00003
|
NM_001065.4(TNFRSF1A):c.194-15C>T
|
rs104895259
|
0.00003
|
NM_001171.6(ABCC6):c.3904G>A (p.Gly1302Arg)
|
rs63749856
|
0.00003
|
NM_001243133.2(NLRP3):c.1669A>G (p.Thr557Ala)
|
rs180177461
|
0.00003
|
NM_001243133.2(NLRP3):c.587G>A (p.Ser196Asn)
|
rs180177459
|
0.00003
|
NM_001370466.1(NOD2):c.1678C>T (p.Arg560Cys)
|
rs104895479
|
0.00003
|
NM_001370466.1(NOD2):c.2465C>T (p.Ala822Val)
|
rs104895486
|
0.00003
|
NM_001370466.1(NOD2):c.256G>A (p.Asp86Asn)
|
rs104895468
|
0.00003
|
NM_001370466.1(NOD2):c.2658C>T (p.Asp886=)
|
rs104895451
|
0.00003
|
NM_001370466.1(NOD2):c.2974C>T (p.Arg992Ter)
|
rs104895491
|
0.00003
|
NM_001370466.1(NOD2):c.947T>C (p.Leu316Pro)
|
rs369732140
|
0.00003
|
NM_003977.4(AIP):c.-5G>C
|
rs267606562
|
0.00003
|
NM_003977.4(AIP):c.591G>A (p.Glu197=)
|
rs202006716
|
0.00003
|
NM_003977.4(AIP):c.965C>T (p.Ala322Val)
|
rs267606586
|
0.00003
|
NM_004371.4(COPA):c.3533G>A (p.Arg1178His)
|
rs373521245
|
0.00003
|
NM_005902.4(SMAD3):c.394A>G (p.Thr132Ala)
|
rs371876622
|
0.00003
|
NM_006397.3(RNASEH2A):c.556C>T (p.Arg186Trp)
|
rs77103971
|
0.00003
|
NM_006397.3(RNASEH2A):c.719C>T (p.Thr240Met)
|
rs79843600
|
0.00003
|
NM_006397.3(RNASEH2A):c.872G>A (p.Arg291His)
|
rs75037667
|
0.00003
|
NM_033629.6(TREX1):c.500del (p.Ser167fs)
|
rs76642637
|
0.00003
|
NM_000138.5(FBN1):c.3026C>G (p.Pro1009Arg)
|
rs148076256
|
0.00002
|
NM_000243.3(MEFV):c.1082G>C (p.Arg361Thr)
|
rs190405488
|
0.00002
|
NM_000243.3(MEFV):c.1089C>T (p.Ser363=)
|
rs104895170
|
0.00002
|
NM_000243.3(MEFV):c.2103G>A (p.Ala701=)
|
rs104895095
|
0.00002
|
NM_000243.3(MEFV):c.2122C>T (p.Arg708Cys)
|
rs104895202
|
0.00002
|
NM_000243.3(MEFV):c.265G>A (p.Ala89Thr)
|
rs104895124
|
0.00002
|
NM_000243.3(MEFV):c.955G>A (p.Glu319Lys)
|
rs104895110
|
0.00002
|
NM_000302.4(PLOD1):c.1533C>G (p.Tyr511Ter)
|
rs121913552
|
0.00002
|
NM_000431.4(MVK):c.1156G>A (p.Asp386Asn)
|
rs104895380
|
0.00002
|
NM_000431.4(MVK):c.37A>T (p.Lys13Ter)
|
rs104895307
|
0.00002
|
NM_000431.4(MVK):c.511G>A (p.Gly171Arg)
|
rs104895337
|
0.00002
|
NM_000431.4(MVK):c.748G>A (p.Val250Ile)
|
rs104895339
|
0.00002
|
NM_000431.4(MVK):c.830G>A (p.Arg277His)
|
rs104895352
|
0.00002
|
NM_001065.4(TNFRSF1A):c.228G>A (p.Gly76=)
|
rs104895274
|
0.00002
|
NM_001065.4(TNFRSF1A):c.558G>A (p.Lys186=)
|
rs104895275
|
0.00002
|
NM_001243133.2(NLRP3):c.503G>A (p.Arg168Gln)
|
rs180177464
|
0.00002
|
NM_001370466.1(NOD2):c.1754C>T (p.Ala585Val)
|
rs104895439
|
0.00002
|
NM_001370466.1(NOD2):c.2056C>T (p.Arg686Cys)
|
rs104895440
|
0.00002
|
NM_001370466.1(NOD2):c.790G>A (p.Asp264Asn)
|
rs104895424
|
0.00002
|
NM_003977.4(AIP):c.383G>A (p.Arg128His)
|
rs267606550
|
0.00002
|
NM_004327.4(BCR):c.2699A>G (p.Asn900Ser)
|
rs752530462
|
0.00002
|
NM_006397.3(RNASEH2A):c.704G>A (p.Arg235Gln)
|
rs75718910
|
0.00002
|
NM_015474.4(SAMHD1):c.602T>A (p.Ile201Asn)
|
rs138603088
|
0.00002
|
NM_030777.4(SLC2A10):c.1330C>T (p.Arg444Ter)
|
rs370547023
|
0.00002
|
NM_030777.4(SLC2A10):c.692G>A (p.Arg231Gln)
|
rs771028960
|
0.00002
|
NM_000138.5(FBN1):c.1373A>G (p.Tyr458Cys)
|
rs749133312
|
0.00001
|
NM_000138.5(FBN1):c.8418C>G (p.Ile2806Met)
|
rs1480715909
|
0.00001
|
NM_000243.3(MEFV):c.*12T>C
|
rs104895183
|
0.00001
|
NM_000243.3(MEFV):c.1056C>T (p.Cys352=)
|
rs104895164
|
0.00001
|
NM_000243.3(MEFV):c.1091C>T (p.Pro364Leu)
|
rs104895214
|
0.00001
|
NM_000243.3(MEFV):c.1260+18G>C
|
rs104895136
|
0.00001
|
NM_000243.3(MEFV):c.1420G>A (p.Glu474Lys)
|
rs104895104
|
0.00001
|
NM_000243.3(MEFV):c.1538T>C (p.Ile513Thr)
|
rs104895199
|
0.00001
|
NM_000243.3(MEFV):c.1744A>C (p.Met582Leu)
|
rs104895165
|
0.00001
|
NM_000243.3(MEFV):c.1784C>T (p.Ala595Val)
|
rs104895191
|
0.00001
|
NM_000243.3(MEFV):c.1894G>A (p.Gly632Ser)
|
rs104895128
|
0.00001
|
NM_000243.3(MEFV):c.2160C>G (p.Ile720Met)
|
rs104895102
|
0.00001
|
NM_000243.3(MEFV):c.2169C>T (p.Asp723=)
|
rs104895117
|
0.00001
|
NM_000243.3(MEFV):c.2259A>G (p.Gln753=)
|
rs104895174
|
0.00001
|
NM_000243.3(MEFV):c.2314A>G (p.Ile772Val)
|
rs104895163
|
0.00001
|
NM_000243.3(MEFV):c.2338C>A (p.Pro780Thr)
|
rs104895154
|
0.00001
|
NM_000243.3(MEFV):c.422G>T (p.Ser141Ile)
|
rs104895130
|
0.00001
|
NM_000243.3(MEFV):c.443A>T (p.Glu148Val)
|
rs104895076
|
0.00001
|
NM_000243.3(MEFV):c.515A>C (p.Gln172Pro)
|
rs104895211
|
0.00001
|
NM_000243.3(MEFV):c.524C>A (p.Pro175His)
|
rs104895126
|
0.00001
|
NM_000243.3(MEFV):c.530C>T (p.Thr177Ile)
|
rs104895143
|
0.00001
|
NM_000243.3(MEFV):c.540G>C (p.Pro180=)
|
rs104895139
|
0.00001
|
NM_000243.3(MEFV):c.675G>C (p.Glu225Asp)
|
rs104895181
|
0.00001
|
NM_000243.3(MEFV):c.688G>A (p.Glu230Lys)
|
rs104895080
|
0.00001
|
NM_000243.3(MEFV):c.726C>T (p.Ser242=)
|
rs104895127
|
0.00001
|
NM_000243.3(MEFV):c.848C>T (p.Pro283Leu)
|
rs104895119
|
0.00001
|
NM_000243.3(MEFV):c.863C>A (p.Ser288Tyr)
|
rs387907567
|
0.00001
|
NM_000302.4(PLOD1):c.955C>T (p.Arg319Ter)
|
rs121913550
|
0.00001
|
NM_000431.4(MVK):c.*11C>T
|
rs104895345
|
0.00001
|
NM_000431.4(MVK):c.1005C>T (p.Gly335=)
|
rs104895357
|
0.00001
|
NM_000431.4(MVK):c.1006G>A (p.Gly336Ser)
|
rs104895358
|
0.00001
|
NM_000431.4(MVK):c.1039+1G>T
|
rs104895362
|
0.00001
|
NM_000431.4(MVK):c.1162C>T (p.Arg388Ter)
|
rs104895360
|
0.00001
|
NM_000431.4(MVK):c.372-3C>T
|
rs104895354
|
0.00001
|
NM_000431.4(MVK):c.447C>G (p.Tyr149Ter)
|
rs104895299
|
0.00001
|
NM_000431.4(MVK):c.500C>T (p.Pro167Leu)
|
rs104895300
|
0.00001
|
NM_000431.4(MVK):c.564G>A (p.Trp188Ter)
|
rs104895311
|
0.00001
|
NM_000431.4(MVK):c.59A>C (p.His20Pro)
|
rs104895295
|
0.00001
|
NM_000431.4(MVK):c.604G>A (p.Gly202Arg)
|
rs104895301
|
0.00001
|
NM_000431.4(MVK):c.613A>G (p.Asn205Asp)
|
rs104895364
|
0.00001
|
NM_000431.4(MVK):c.632-71A>G
|
rs104895346
|
0.00001
|
NM_000431.4(MVK):c.709A>T (p.Thr237Ser)
|
rs104895366
|
0.00001
|
NM_000431.4(MVK):c.72dup (p.Gly25fs)
|
rs104895322
|
0.00001
|
NM_000431.4(MVK):c.737T>C (p.Leu246Pro)
|
rs104895312
|
0.00001
|
NM_000431.4(MVK):c.928G>A (p.Val310Met)
|
rs104895319
|
0.00001
|
NM_000435.3(NOTCH3):c.3062A>G (p.Tyr1021Cys)
|
rs1167405466
|
0.00001
|
NM_001065.4(TNFRSF1A):c.283C>T (p.His95Tyr)
|
rs104895290
|
0.00001
|
NM_001065.4(TNFRSF1A):c.370G>A (p.Val124Met)
|
rs104895278
|
0.00001
|
NM_001065.4(TNFRSF1A):c.398G>A (p.Arg133Gln)
|
rs104895257
|
0.00001
|
NM_001243133.2(NLRP3):c.1484C>T (p.Ala495Val)
|
rs180177474
|
0.00001
|
NM_001243133.2(NLRP3):c.1660C>T (p.Arg554Ter)
|
rs180177460
|
0.00001
|
NM_001282225.2(ADA2):c.1078A>G (p.Thr360Ala)
|
rs775440641
|
0.00001
|
NM_001367624.2(ZNF469):c.1268C>T (p.Pro423Leu)
|
rs1214168989
|
0.00001
|
NM_001370466.1(NOD2):c.1006A>T (p.Ile336Phe)
|
rs104895470
|
0.00001
|
NM_001370466.1(NOD2):c.1090C>T (p.Arg364Cys)
|
rs104895481
|
0.00001
|
NM_001370466.1(NOD2):c.1428G>A (p.Glu476=)
|
rs104895434
|
0.00001
|
NM_001370466.1(NOD2):c.1500C>G (p.Pro500=)
|
rs104895435
|
0.00001
|
NM_001370466.1(NOD2):c.2192C>T (p.Ala731Val)
|
rs104895442
|
0.00001
|
NM_001370466.1(NOD2):c.2634-75G>A
|
rs104895466
|
0.00001
|
NM_001370466.1(NOD2):c.2970-102C>G
|
rs104895458
|
0.00001
|
NM_001375808.2(LPIN2):c.2201C>T (p.Ser734Leu)
|
rs80338807
|
0.00001
|
NM_001844.5(COL2A1):c.1679G>C (p.Arg560Pro)
|
rs1186241291
|
0.00001
|
NM_001844.5(COL2A1):c.2638G>A (p.Val880Met)
|
rs886043832
|
0.00001
|
NM_001844.5(COL2A1):c.3397C>T (p.Arg1133Cys)
|
rs1938732355
|
0.00001
|
NM_002609.4(PDGFRB):c.1681C>T (p.Arg561Cys)
|
rs367543286
|
0.00001
|
NM_003183.6(ADAM17):c.1120G>A (p.Gly374Arg)
|
rs199755899
|
0.00001
|
NM_003242.6(TGFBR2):c.412T>G (p.Cys138Gly)
|
rs863223838
|
0.00001
|
NM_003977.4(AIP):c.174G>C (p.Lys58Asn)
|
rs267606539
|
0.00001
|
NM_003977.4(AIP):c.721A>G (p.Lys241Glu)
|
rs267606573
|
0.00001
|
NM_003977.4(AIP):c.783C>T (p.Tyr261=)
|
rs267606576
|
0.00001
|
NM_003977.4(AIP):c.910C>T (p.Arg304Ter)
|
rs104894195
|
0.00001
|
NM_004985.5(KRAS):c.35G>A (p.Gly12Asp)
|
rs121913529
|
0.00001
|
NM_004985.5(KRAS):c.38G>A (p.Gly13Asp)
|
rs112445441
|
0.00001
|
NM_004985.5(KRAS):c.437C>T (p.Ala146Val)
|
rs1057519725
|
0.00001
|
NM_004985.5(KRAS):c.57G>C (p.Leu19Phe)
|
rs121913538
|
0.00001
|
NM_006397.3(RNASEH2A):c.69G>A (p.Val23=)
|
rs397515480
|
0.00001
|
NM_015474.4(SAMHD1):c.1258A>T (p.Thr420Ser)
|
rs754153159
|
0.00001
|
NM_015474.4(SAMHD1):c.1411-2A>G
|
rs515726141
|
0.00001
|
NM_015474.4(SAMHD1):c.1642C>T (p.Gln548Ter)
|
rs121434519
|
0.00001
|
NM_015474.4(SAMHD1):c.368A>C (p.His123Pro)
|
rs121434520
|
0.00001
|
NM_015474.4(SAMHD1):c.427C>T (p.Arg143Cys)
|
rs387906948
|
0.00001
|
NM_015474.4(SAMHD1):c.428G>A (p.Arg143His)
|
rs369035155
|
0.00001
|
NM_015474.4(SAMHD1):c.433C>T (p.Arg145Ter)
|
rs121434517
|
0.00001
|
NM_015474.4(SAMHD1):c.625G>A (p.Gly209Ser)
|
rs121434516
|
0.00001
|
NM_015474.4(SAMHD1):c.649_650insG (p.Phe217fs)
|
rs515726146
|
0.00001
|
NM_022168.4(IFIH1):c.104T>A (p.Leu35Gln)
|
rs1235525082
|
0.00001
|
NM_030777.4(SLC2A10):c.1309G>A (p.Glu437Lys)
|
rs763220502
|
0.00001
|
NM_030777.4(SLC2A10):c.1334G>A (p.Gly445Glu)
|
rs753723351
|
0.00001
|
NM_030777.4(SLC2A10):c.685C>T (p.Arg229Ter)
|
rs756457861
|
0.00001
|
NM_030777.4(SLC2A10):c.737G>A (p.Gly246Glu)
|
rs564317065
|
0.00001
|
NM_033629.6(TREX1):c.490C>T (p.Arg164Ter)
|
rs78218009
|
0.00001
|
NM_033629.6(TREX1):c.907A>C (p.Thr303Pro)
|
rs76224909
|
0.00001
|
NM_000138.5(FBN1):c.1571del (p.Thr524fs)
|
rs886038817
|
|
NM_000138.5(FBN1):c.2055C>G (p.Cys685Trp)
|
rs140603
|
|
NM_000138.5(FBN1):c.229G>A (p.Gly77Arg)
|
rs794728290
|
|
NM_000138.5(FBN1):c.2860C>T (p.Arg954Cys)
|
rs1555398835
|
|
NM_000138.5(FBN1):c.3297A>T (p.Glu1099Asp)
|
rs1555398626
|
|
NM_000138.5(FBN1):c.5018T>C (p.Ile1673Thr)
|
rs2043300504
|
|
NM_000138.5(FBN1):c.5485G>C (p.Gly1829Arg)
|
rs1597537835
|
|
NM_000138.5(FBN1):c.762del (p.Leu256fs)
|
rs1064793559
|
|
NM_000138.5(FBN1):c.8014T>G (p.Cys2672Gly)
|
rs1555393833
|
|
NM_000243.3(MEFV):c.-12C>G
|
rs104895148
|
|
NM_000243.3(MEFV):c.1012G>C (p.Val338Leu)
|
rs483353018
|
|
NM_000243.3(MEFV):c.1147C>A (p.Gln383Lys)
|
rs104895188
|
|
NM_000243.3(MEFV):c.1166A>T (p.Asp389Val)
|
rs786205886
|
|
NM_000243.3(MEFV):c.1267A>G (p.Ile423Val)
|
rs104895149
|
|
NM_000243.3(MEFV):c.1405G>T (p.Val469Leu)
|
rs104895173
|
|
NM_000243.3(MEFV):c.1413C>A (p.Tyr471Ter)
|
rs104895207
|
|
NM_000243.3(MEFV):c.1432C>T (p.His478Tyr)
|
rs104895105
|
|
NM_000243.3(MEFV):c.1437C>G (p.Phe479Leu)
|
rs104895083
|
|
NM_000243.3(MEFV):c.1459G>A (p.Val487Met)
|
rs104895100
|
|
NM_000243.3(MEFV):c.1501C>G (p.Arg501Gly)
|
rs104895101
|
|
NM_000243.3(MEFV):c.1516A>G (p.Ile506Val)
|
rs104895186
|
|
NM_000243.3(MEFV):c.1541G>A (p.Gly514Glu)
|
rs104895168
|
|
NM_000243.3(MEFV):c.1587+29G>T
|
rs104895206
|
|
NM_000243.3(MEFV):c.1675C>T (p.Leu559Phe)
|
rs104895113
|
|
NM_000243.3(MEFV):c.1727-58T>C
|
rs104895158
|
|
NM_000243.3(MEFV):c.1729A>T (p.Thr577Ser)
|
rs104895193
|
|
NM_000243.3(MEFV):c.1730C>A (p.Thr577Asn)
|
rs1057516210
|
|
NM_000243.3(MEFV):c.1792+57C>T
|
rs104895150
|
|
NM_000243.3(MEFV):c.1793-14A>G
|
rs104895141
|
|
NM_000243.3(MEFV):c.1818C>T (p.Thr606=)
|
rs104895213
|
|
NM_000243.3(MEFV):c.1910A>G (p.Asp637Gly)
|
rs387907568
|
|
NM_000243.3(MEFV):c.1920C>G (p.Ile640Met)
|
rs104895115
|
|
NM_000243.3(MEFV):c.1921A>T (p.Ile641Phe)
|
rs104895147
|
|
NM_000243.3(MEFV):c.1946T>C (p.Leu649Pro)
|
rs104895108
|
|
NM_000243.3(MEFV):c.1949C>A (p.Ser650Tyr)
|
rs142748016
|
|
NM_000243.3(MEFV):c.1956C>A (p.Arg652=)
|
rs104895084
|
|
NM_000243.3(MEFV):c.1967A>C (p.Glu656Ala)
|
rs104895086
|
|
NM_000243.3(MEFV):c.1975G>T (p.Val659Phe)
|
rs104895212
|
|
NM_000243.3(MEFV):c.1981G>A (p.Asp661Asn)
|
rs104895120
|
|
NM_000243.3(MEFV):c.1996A>G (p.Ile666Val)
|
rs387907566
|
|
NM_000243.3(MEFV):c.2024G>A (p.Ser675Asn)
|
rs104895087
|
|
NM_000243.3(MEFV):c.2038A>C (p.Met680Leu)
|
rs104895089
|
|
NM_000243.3(MEFV):c.2040G>C (p.Met680Ile)
|
rs28940580
|
|
NM_000243.3(MEFV):c.2042C>T (p.Thr681Ile)
|
rs104895090
|
|
NM_000243.3(MEFV):c.2053G>A (p.Glu685Lys)
|
rs587783378
|
|
NM_000243.3(MEFV):c.2060G>A (p.Gly687Asp)
|
rs387907570
|
|
NM_000243.3(MEFV):c.2063A>G (p.Tyr688Cys)
|
rs104895122
|
|
NM_000243.3(MEFV):c.2064C>G (p.Tyr688Ter)
|
rs104895098
|
|
NM_000243.3(MEFV):c.2076_2078del (p.Ile692del)
|
rs104895093
|
|
NM_000243.3(MEFV):c.2078TGA[1] (p.Met694del)
|
rs104895091
|
|
NM_000243.3(MEFV):c.2079G>C (p.Met693Ile)
|
rs104895215
|
|
NM_000243.3(MEFV):c.2080A>T (p.Met694Leu)
|
rs61752717
|
|
NM_000243.3(MEFV):c.2084A>T (p.Lys695Met)
|
rs104895094
|
|
NM_000243.3(MEFV):c.2085G>C (p.Lys695Asn)
|
rs104895208
|
|
NM_000243.3(MEFV):c.2105C>G (p.Ser702Cys)
|
rs104895166
|
|
NM_000243.3(MEFV):c.2113C>T (p.Pro705Ser)
|
rs104895145
|
|
NM_000243.3(MEFV):c.2126T>G (p.Leu709Arg)
|
rs104895184
|
|
NM_000243.3(MEFV):c.2149C>A (p.Arg717Ser)
|
rs104895192
|
|
NM_000243.3(MEFV):c.2228T>A (p.Phe743Tyr)
|
rs104895216
|
|
NM_000243.3(MEFV):c.2229C>G (p.Phe743Leu)
|
rs104895152
|
|
NM_000243.3(MEFV):c.2230G>T (p.Ala744Ser)
|
rs61732874
|
|
NM_000243.3(MEFV):c.2246C>G (p.Ser749Cys)
|
rs104895171
|
|
NM_000243.3(MEFV):c.2272C>T (p.Pro758Ser)
|
rs104895114
|
|
NM_000243.3(MEFV):c.2305C>G (p.Pro769Ala)
|
rs387907565
|
|
NM_000243.3(MEFV):c.25C>T (p.Leu9=)
|
rs104895146
|
|
NM_000243.3(MEFV):c.314C>A (p.Ala105Glu)
|
rs387907569
|
|
NM_000243.3(MEFV):c.322A>C (p.Ser108Arg)
|
rs104895103
|
|
NM_000243.3(MEFV):c.330G>A (p.Leu110=)
|
rs104895177
|
|
NM_000243.3(MEFV):c.334dup (p.Glu112fs)
|
rs104895109
|
|
NM_000243.3(MEFV):c.343C>A (p.Pro115Thr)
|
rs147557169
|
|
NM_000243.3(MEFV):c.369C>A (p.His123Gln)
|
rs587783379
|
|
NM_000243.3(MEFV):c.374AGGGGAACG[3] (p.125EGN[3])
|
rs104895121
|
|
NM_000243.3(MEFV):c.375G>A (p.Glu125=)
|
rs104895142
|
|
NM_000243.3(MEFV):c.428G>C (p.Arg143Pro)
|
rs104895190
|
|
NM_000243.3(MEFV):c.464G>C (p.Arg155Thr)
|
rs483353017
|
|
NM_000243.3(MEFV):c.488A>C (p.Glu163Ala)
|
rs104895106
|
|
NM_000243.3(MEFV):c.536G>T (p.Ser179Ile)
|
rs104895125
|
|
NM_000243.3(MEFV):c.539C>G (p.Pro180Arg)
|
rs104895134
|
|
NM_000243.3(MEFV):c.586G>T (p.Gly196Trp)
|
rs104895179
|
|
NM_000243.3(MEFV):c.606_621dup (p.Ser208fs)
|
rs104895180
|
|
NM_000243.3(MEFV):c.688G>C (p.Glu230Gln)
|
rs104895080
|
|
NM_000243.3(MEFV):c.694T>C (p.Tyr232His)
|
rs104895205
|
|
NM_000243.3(MEFV):c.707G>T (p.Gly236Val)
|
rs104895159
|
|
NM_000243.3(MEFV):c.726C>A (p.Ser242Arg)
|
rs104895127
|
|
NM_000243.3(MEFV):c.726C>G (p.Ser242Arg)
|
rs104895127
|
|
NM_000243.3(MEFV):c.751G>A (p.Glu251Lys)
|
rs104895111
|
|
NM_000243.3(MEFV):c.761_764dup (p.Asn256fs)
|
rs104895138
|
|
NM_000243.3(MEFV):c.803C>T (p.Ala268Val)
|
rs104895123
|
|
NM_000243.3(MEFV):c.818C>T (p.Ser273Leu)
|
rs483353019
|
|
NM_000243.3(MEFV):c.833G>C (p.Arg278Pro)
|
rs104895187
|
|
NM_000243.3(MEFV):c.848C>G (p.Pro283Arg)
|
rs104895119
|
|
NM_000243.3(MEFV):c.866C>A (p.Ala289Glu)
|
rs104895132
|
|
NM_000243.3(MEFV):c.896A>G (p.Glu299Gly)
|
rs104895167
|
|
NM_000243.3(MEFV):c.911-22T>G
|
rs104895189
|
|
NM_000243.3(MEFV):c.983T>C (p.Val328Ala)
|
rs104895203
|
|
NM_000302.4(PLOD1):c.702C>G (p.Asp234Glu)
|
rs566018612
|
|
NM_000388.4(CASR):c.209G>A (p.Trp70Ter)
|
rs2107627458
|
|
NM_000388.4(CASR):c.2278A>T (p.Ile760Phe)
|
rs1453953571
|
|
NM_000388.4(CASR):c.2990C>A (p.Ser997Tyr)
|
rs1244383237
|
|
NM_000388.4(CASR):c.494T>G (p.Val165Gly)
|
rs1559958757
|
|
NM_000431.1(MVK):c.-325A>T
|
rs560451620
|
|
NM_000431.4(MVK):c.-13_78+1del
|
rs104895309
|
|
NM_000431.4(MVK):c.104T>C (p.Leu35Ser)
|
rs104895313
|
|
NM_000431.4(MVK):c.1097_1100del (p.Asp366fs)
|
rs104895372
|
|
NM_000431.4(MVK):c.1100G>C (p.Cys367Ser)
|
rs104895359
|
|
NM_000431.4(MVK):c.1127G>T (p.Gly376Val)
|
rs104895340
|
|
NM_000431.4(MVK):c.1132T>C (p.Ser378Pro)
|
rs104895349
|
|
NM_000431.4(MVK):c.1151C>T (p.Ser384Phe)
|
rs104895383
|
|
NM_000431.4(MVK):c.116T>C (p.Leu39Pro)
|
rs104895296
|
|
NM_000431.4(MVK):c.129_130del (p.His44fs)
|
rs104895368
|
|
NM_000431.4(MVK):c.16_34del (p.Leu6fs)
|
rs104895334
|
|
NM_000431.4(MVK):c.185G>A (p.Trp62Ter)
|
rs104895306
|
|
NM_000431.4(MVK):c.22G>C (p.Val8Leu)
|
rs104895328
|
|
NM_000431.4(MVK):c.277_283del (p.Glu93fs)
|
rs104895369
|
|
NM_000431.4(MVK):c.340_344del (p.Tyr114fs)
|
rs104895370
|
|
NM_000431.4(MVK):c.357C>G (p.Ile119Met)
|
rs104895341
|
|
NM_000431.4(MVK):c.372_527del (p.Ala125_Arg176del)
|
rs104895310
|
|
NM_000431.4(MVK):c.404C>T (p.Ser135Leu)
|
rs104895297
|
|
NM_000431.4(MVK):c.417dup (p.Gly140fs)
|
rs104895373
|
|
NM_000431.4(MVK):c.421del (p.Ala141fs)
|
rs104895323
|
|
NM_000431.4(MVK):c.421dup (p.Ala141fs)
|
rs104895323
|
|
NM_000431.4(MVK):c.439G>A (p.Ala147Thr)
|
rs104895363
|
|
NM_000431.4(MVK):c.503_512delinsAC (p.Leu168fs)
|
rs104895375
|
|
NM_000431.4(MVK):c.516T>C (p.Asp172=)
|
rs104895320
|
|
NM_000431.4(MVK):c.571del (p.Gln191fs)
|
rs104895371
|
|
NM_000431.4(MVK):c.607dup (p.Val203fs)
|
rs104895374
|
|
NM_000431.4(MVK):c.60T>A (p.His20Gln)
|
rs104895335
|
|
NM_000431.4(MVK):c.625A>G (p.Thr209Ala)
|
rs104895302
|
|
NM_000431.4(MVK):c.632G>A (p.Gly211Glu)
|
rs104895325
|
|
NM_000431.4(MVK):c.632G>C (p.Gly211Ala)
|
rs104895325
|
|
NM_000431.4(MVK):c.678-1G>C
|
rs104895376
|
|
NM_000431.4(MVK):c.684A>G (p.Pro228=)
|
rs104895377
|
|
NM_000431.4(MVK):c.701T>C (p.Leu234Pro)
|
rs104895365
|
|
NM_000431.4(MVK):c.728C>T (p.Thr243Ile)
|
rs104895314
|
|
NM_000431.4(MVK):c.75C>T (p.Gly25=)
|
rs104895330
|
|
NM_000431.4(MVK):c.769-7dup
|
rs1555279054
|
|
NM_000431.4(MVK):c.78+2del
|
rs104895378
|
|
NM_000431.4(MVK):c.794T>C (p.Leu265Pro)
|
rs104895316
|
|
NM_000431.4(MVK):c.794T>G (p.Leu265Arg)
|
rs104895316
|
|
NM_000431.4(MVK):c.79_226del (p.Val27Serfs)
|
|
|
NM_000431.4(MVK):c.815C>T (p.Ser272Phe)
|
rs104895318
|
|
NM_000431.4(MVK):c.86del (p.Leu29fs)
|
rs104895381
|
|
NM_000431.4(MVK):c.925G>A (p.Gly309Ser)
|
rs104895305
|
|
NM_000431.4(MVK):c.965C>G (p.Thr322Ser)
|
rs104895367
|
|
NM_000431.4(MVK):c.976G>A (p.Gly326Arg)
|
rs104895308
|
|
NM_000431.4(MVK):c.986G>A (p.Ser329Asn)
|
rs104895350
|
|
NM_000431.4(MVK):c.987C>A (p.Ser329Arg)
|
rs104895326
|
|
NM_000435.3(NOTCH3):c.3296G>A (p.Cys1099Tyr)
|
rs1555727841
|
|
NM_000435.3(NOTCH3):c.4556T>C (p.Leu1519Pro)
|
rs367543285
|
|
NM_001065.4(TNFRSF1A):c.1080C>G (p.Tyr360Ter)
|
rs104895291
|
|
NM_001065.4(TNFRSF1A):c.123T>G (p.Asp41Glu)
|
rs104895271
|
|
NM_001065.4(TNFRSF1A):c.145T>C (p.Tyr49His)
|
rs104895237
|
|
NM_001065.4(TNFRSF1A):c.145T>G (p.Tyr49Asp)
|
rs104895237
|
|
NM_001065.4(TNFRSF1A):c.151C>T (p.His51Tyr)
|
rs104895227
|
|
NM_001065.4(TNFRSF1A):c.152A>G (p.His51Arg)
|
rs104895289
|
|
NM_001065.4(TNFRSF1A):c.153C>G (p.His51Gln)
|
rs104895254
|
|
NM_001065.4(TNFRSF1A):c.173G>A (p.Cys58Tyr)
|
rs104895230
|
|
NM_001065.4(TNFRSF1A):c.173G>T (p.Cys58Phe)
|
rs104895230
|
|
NM_001065.4(TNFRSF1A):c.175T>C (p.Cys59Arg)
|
rs104895217
|
|
NM_001065.4(TNFRSF1A):c.176G>A (p.Cys59Tyr)
|
rs104895223
|
|
NM_001065.4(TNFRSF1A):c.176G>C (p.Cys59Ser)
|
rs104895223
|
|
NM_001065.4(TNFRSF1A):c.176G>T (p.Cys59Phe)
|
rs104895223
|
|
NM_001065.4(TNFRSF1A):c.184T>G (p.Cys62Gly)
|
rs104895225
|
|
NM_001065.4(TNFRSF1A):c.185G>A (p.Cys62Tyr)
|
rs104895218
|
|
NM_001065.4(TNFRSF1A):c.194-18_194-17del
|
rs104895267
|
|
NM_001065.4(TNFRSF1A):c.194G>A (p.Gly65Glu)
|
rs104895239
|
|
NM_001065.4(TNFRSF1A):c.197C>T (p.Thr66Ile)
|
rs104895243
|
|
NM_001065.4(TNFRSF1A):c.200A>C (p.Tyr67Ser)
|
rs104895229
|
|
NM_001065.4(TNFRSF1A):c.200A>G (p.Tyr67Cys)
|
rs104895229
|
|
NM_001065.4(TNFRSF1A):c.204G>C (p.Leu68Phe)
|
rs104895262
|
|
NM_001065.4(TNFRSF1A):c.211_213del (p.Asp71del)
|
rs104895246
|
|
NM_001065.4(TNFRSF1A):c.214T>C (p.Cys72Arg)
|
rs104895238
|
|
NM_001065.4(TNFRSF1A):c.215G>A (p.Cys72Tyr)
|
rs104895252
|
|
NM_001065.4(TNFRSF1A):c.215G>C (p.Cys72Ser)
|
rs104895252
|
|
NM_001065.4(TNFRSF1A):c.236C>A (p.Thr79Lys)
|
rs104895219
|
|
NM_001065.4(TNFRSF1A):c.236C>T (p.Thr79Met)
|
rs104895219
|
|
NM_001065.4(TNFRSF1A):c.241T>C (p.Cys81Arg)
|
rs104895232
|
|
NM_001065.4(TNFRSF1A):c.242G>A (p.Cys81Tyr)
|
rs104895220
|
|
NM_001065.4(TNFRSF1A):c.242G>T (p.Cys81Phe)
|
rs104895220
|
|
NM_001065.4(TNFRSF1A):c.243C>G (p.Cys81Trp)
|
rs56002980
|
|
NM_001065.4(TNFRSF1A):c.250T>C (p.Cys84Arg)
|
rs104895253
|
|
NM_001065.4(TNFRSF1A):c.251G>A (p.Cys84Tyr)
|
rs104895224
|
|
NM_001065.4(TNFRSF1A):c.251G>C (p.Cys84Ser)
|
rs104895224
|
|
NM_001065.4(TNFRSF1A):c.262T>C (p.Ser88Pro)
|
rs104895292
|
|
NM_001065.4(TNFRSF1A):c.265T>C (p.Phe89Leu)
|
rs104895245
|
|
NM_001065.4(TNFRSF1A):c.265T>G (p.Phe89Val)
|
rs104895245
|
|
NM_001065.4(TNFRSF1A):c.266T>C (p.Phe89Ser)
|
rs104895279
|
|
NM_001065.4(TNFRSF1A):c.267C>A (p.Phe89Leu)
|
rs104895266
|
|
NM_001065.4(TNFRSF1A):c.269C>A (p.Thr90Asn)
|
rs34751757
|
|
NM_001065.4(TNFRSF1A):c.281A>T (p.Asn94Ile)
|
rs104895244
|
|
NM_001065.4(TNFRSF1A):c.284A>T (p.His95Leu)
|
rs104895294
|
|
NM_001065.4(TNFRSF1A):c.287T>C (p.Leu96Pro)
|
rs104895235
|
|
NM_001065.4(TNFRSF1A):c.293_295del (p.His98_Cys99delinsArg)
|
rs104895261
|
|
NM_001065.4(TNFRSF1A):c.295T>A (p.Cys99Ser)
|
rs104895228
|
|
NM_001065.4(TNFRSF1A):c.295T>C (p.Cys99Arg)
|
rs104895228
|
|
NM_001065.4(TNFRSF1A):c.295T>G (p.Cys99Gly)
|
rs104895228
|
|
NM_001065.4(TNFRSF1A):c.296G>A (p.Cys99Tyr)
|
rs104895231
|
|
NM_001065.4(TNFRSF1A):c.304T>C (p.Cys102Arg)
|
rs104895236
|
|
NM_001065.4(TNFRSF1A):c.306C>G (p.Cys102Trp)
|
rs104895249
|
|
NM_001065.4(TNFRSF1A):c.308C>G (p.Ser103Cys)
|
rs104895283
|
|
NM_001065.4(TNFRSF1A):c.323-32A>G
|
rs104895281
|
|
NM_001065.4(TNFRSF1A):c.343T>C (p.Ser115Pro)
|
rs104895226
|
|
NM_001065.4(TNFRSF1A):c.349T>C (p.Cys117Arg)
|
rs104895221
|
|
NM_001065.4(TNFRSF1A):c.350G>A (p.Cys117Tyr)
|
rs104895222
|
|
NM_001065.4(TNFRSF1A):c.361C>T (p.Arg121Trp)
|
rs104895276
|
|
NM_001065.4(TNFRSF1A):c.362G>C (p.Arg121Pro)
|
rs4149584
|
|
NM_001065.4(TNFRSF1A):c.374G>A (p.Cys125Tyr)
|
rs104895234
|
|
NM_001065.4(TNFRSF1A):c.380G>A (p.Cys127Tyr)
|
rs104895242
|
|
NM_001065.4(TNFRSF1A):c.40-981C>T
|
rs151344627
|
|
NM_001065.4(TNFRSF1A):c.401A>C (p.His134Pro)
|
rs104895284
|
|
NM_001065.4(TNFRSF1A):c.413A>C (p.Glu138Ala)
|
rs104895286
|
|
NM_001065.4(TNFRSF1A):c.421T>A (p.Phe141Ile)
|
rs104895233
|
|
NM_001065.4(TNFRSF1A):c.472+1G>A
|
rs104895287
|
|
NM_001065.4(TNFRSF1A):c.472+6C>T
|
rs104895277
|
|
NM_001065.4(TNFRSF1A):c.586_612del (p.Leu196_Gly204del)
|
rs104895272
|
|
NM_001065.4(TNFRSF1A):c.596T>A (p.Ile199Asn)
|
rs104895247
|
|
NM_001065.4(TNFRSF1A):c.605T>A (p.Val202Asp)
|
rs104895285
|
|
NM_001065.4(TNFRSF1A):c.678C>G (p.Ser226=)
|
rs104895258
|
|
NM_001111.5(ADAR):c.2830A>C (p.Lys944Gln)
|
rs373564780
|
|
NM_001111.5(ADAR):c.3019G>A (p.Gly1007Arg)
|
rs398122822
|
|
NM_001243133.2(NLRP3):c.1043C>T (p.Thr348Met)
|
rs151344629
|
|
NM_001243133.2(NLRP3):c.1051G>A (p.Val351Met)
|
rs180177463
|
|
NM_001243133.2(NLRP3):c.1051G>C (p.Val351Leu)
|
rs180177463
|
|
NM_001243133.2(NLRP3):c.1054G>A (p.Ala352Thr)
|
rs180177503
|
|
NM_001243133.2(NLRP3):c.1055C>T (p.Ala352Val)
|
rs121908149
|
|
NM_001243133.2(NLRP3):c.1058T>C (p.Leu353Pro)
|
rs28937896
|
|
NM_001243133.2(NLRP3):c.1062G>T (p.Glu354Asp)
|
rs180177444
|
|
NM_001243133.2(NLRP3):c.1073A>G (p.His358Arg)
|
rs180177434
|
|
NM_001243133.2(NLRP3):c.1121C>A (p.Ala374Asp)
|
rs180177437
|
|
NM_001243133.2(NLRP3):c.1213A>C (p.Thr405Pro)
|
rs180177445
|
|
NM_001243133.2(NLRP3):c.1218G>C (p.Met406Ile)
|
rs180177486
|
|
NM_001243133.2(NLRP3):c.1241G>T (p.Trp414Leu)
|
rs180177496
|
|
NM_001243133.2(NLRP3):c.1306A>C (p.Thr436Pro)
|
rs180177465
|
|
NM_001243133.2(NLRP3):c.1306A>G (p.Thr436Ala)
|
rs180177465
|
|
NM_001243133.2(NLRP3):c.1306ACC[2] (p.Thr438del)
|
rs180177492
|
|
NM_001243133.2(NLRP3):c.1307C>A (p.Thr436Asn)
|
rs180177433
|
|
NM_001243133.2(NLRP3):c.1307C>T (p.Thr436Ile)
|
rs180177433
|
|
NM_001243133.2(NLRP3):c.1315G>A (p.Ala439Thr)
|
rs180177430
|
|
NM_001243133.2(NLRP3):c.1315G>C (p.Ala439Pro)
|
rs180177430
|
|
NM_001243133.2(NLRP3):c.1316C>T (p.Ala439Val)
|
rs121908146
|
|
NM_001243133.2(NLRP3):c.1321T>C (p.Tyr441His)
|
rs180177499
|
|
NM_001243133.2(NLRP3):c.1329C>G (p.Phe443Leu)
|
rs180177477
|
|
NM_001243133.2(NLRP3):c.1374C>T (p.His458=)
|
rs180177481
|
|
NM_001243133.2(NLRP3):c.1431C>A (p.Asn477Lys)
|
rs180177485
|
|
NM_001243133.2(NLRP3):c.1438A>T (p.Ile480Phe)
|
rs180177482
|
|
NM_001243133.2(NLRP3):c.1568T>G (p.Phe523Cys)
|
rs180177478
|
|
NM_001243133.2(NLRP3):c.1569C>A (p.Phe523Leu)
|
rs180177439
|
|
NM_001243133.2(NLRP3):c.1569C>G (p.Phe523Leu)
|
rs180177439
|
|
NM_001243133.2(NLRP3):c.1573G>A (p.Glu525Lys)
|
rs180177458
|
|
NM_001243133.2(NLRP3):c.1687T>A (p.Tyr563Asn)
|
rs180177479
|
|
NM_001243133.2(NLRP3):c.1699G>A (p.Glu567Lys)
|
rs104895389
|
|
NM_001243133.2(NLRP3):c.1705G>C (p.Gly569Arg)
|
rs121908151
|
|
NM_001243133.2(NLRP3):c.1706G>C (p.Gly569Ala)
|
rs180177491
|
|
NM_001243133.2(NLRP3):c.1709A>G (p.Tyr570Cys)
|
rs180177438
|
|
NM_001243133.2(NLRP3):c.1709A>T (p.Tyr570Phe)
|
rs180177438
|
|
NM_001243133.2(NLRP3):c.1713G>T (p.Leu571Phe)
|
rs180177489
|
|
NM_001243133.2(NLRP3):c.1714A>T (p.Ile572Phe)
|
rs180177490
|
|
NM_001243133.2(NLRP3):c.1718T>C (p.Phe573Ser)
|
rs121908152
|
|
NM_001243133.2(NLRP3):c.1760C>T (p.Thr587Ile)
|
rs180177467
|
|
NM_001243133.2(NLRP3):c.1880A>G (p.Glu627Gly)
|
rs121908148
|
|
NM_001243133.2(NLRP3):c.1896G>T (p.Leu632Phe)
|
rs180177446
|
|
NM_001243133.2(NLRP3):c.1976T>A (p.Met659Lys)
|
rs180177457
|
|
NM_001243133.2(NLRP3):c.1985T>C (p.Met662Thr)
|
rs180177435
|
|
NM_001243133.2(NLRP3):c.2062G>A (p.Glu688Lys)
|
rs104895414
|
|
NM_001243133.2(NLRP3):c.2068G>A (p.Glu690Lys)
|
rs180177495
|
|
NM_001243133.2(NLRP3):c.2102T>C (p.Met701Thr)
|
rs180177497
|
|
NM_001243133.2(NLRP3):c.2129C>G (p.Ser710Cys)
|
rs180177454
|
|
NM_001243133.2(NLRP3):c.2263G>C (p.Gly755Arg)
|
rs180177469
|
|
NM_001243133.2(NLRP3):c.2264G>C (p.Gly755Ala)
|
rs180177473
|
|
NM_001243133.2(NLRP3):c.2576A>G (p.Tyr859Cys)
|
rs180177452
|
|
NM_001243133.2(NLRP3):c.398-56C>T
|
rs180177455
|
|
NM_001243133.2(NLRP3):c.443G>A (p.Cys148Tyr)
|
rs180177487
|
|
NM_001243133.2(NLRP3):c.515T>C (p.Ile172Thr)
|
rs180177449
|
|
NM_001243133.2(NLRP3):c.699G>A (p.Leu233=)
|
rs180177498
|
|
NM_001243133.2(NLRP3):c.777T>G (p.Cys259Trp)
|
rs180177475
|
|
NM_001243133.2(NLRP3):c.778C>T (p.Arg260Ter)
|
rs121908150
|
|
NM_001243133.2(NLRP3):c.779G>C (p.Arg260Pro)
|
rs180177442
|
|
NM_001243133.2(NLRP3):c.779G>T (p.Arg260Leu)
|
rs180177442
|
|
NM_001243133.2(NLRP3):c.785T>C (p.Val262Ala)
|
rs104895392
|
|
NM_001243133.2(NLRP3):c.785T>G (p.Val262Gly)
|
rs104895392
|
|
NM_001243133.2(NLRP3):c.790C>G (p.Leu264Val)
|
rs180177476
|
|
NM_001243133.2(NLRP3):c.790C>T (p.Leu264Phe)
|
rs180177476
|
|
NM_001243133.2(NLRP3):c.791T>A (p.Leu264His)
|
rs180177436
|
|
NM_001243133.2(NLRP3):c.791T>G (p.Leu264Arg)
|
rs180177436
|
|
NM_001243133.2(NLRP3):c.895A>G (p.Met299Val)
|
rs180177494
|
|
NM_001243133.2(NLRP3):c.902G>A (p.Gly301Asp)
|
rs180177441
|
|
NM_001243133.2(NLRP3):c.907G>A (p.Asp303Asn)
|
rs121908153
|
|
NM_001243133.2(NLRP3):c.907G>C (p.Asp303His)
|
rs121908153
|
|
NM_001243133.2(NLRP3):c.908A>G (p.Asp303Gly)
|
rs180177447
|
|
NM_001243133.2(NLRP3):c.910G>A (p.Glu304Lys)
|
rs180177484
|
|
NM_001243133.2(NLRP3):c.914T>C (p.Leu305Pro)
|
rs180177431
|
|
NM_001243133.2(NLRP3):c.916C>A (p.Gln306Lys)
|
rs180177432
|
|
NM_001243133.2(NLRP3):c.916C>G (p.Gln306Glu)
|
rs180177432
|
|
NM_001243133.2(NLRP3):c.920G>T (p.Gly307Val)
|
rs180177468
|
|
NM_001243133.2(NLRP3):c.926T>C (p.Phe309Ser)
|
rs121908154
|
|
NM_001243133.2(NLRP3):c.931G>A (p.Glu311Lys)
|
rs180177470
|
|
NM_001243133.2(NLRP3):c.935A>C (p.His312Pro)
|
rs180177488
|
|
NM_001243133.2(NLRP3):c.973C>T (p.Arg325Trp)
|
rs180177500
|
|
NM_001243133.2(NLRP3):c.977G>A (p.Gly326Glu)
|
rs180177456
|
|
NM_001243133.2(NLRP3):c.993C>A (p.Ser331Arg)
|
rs180177451
|
|
NM_001243133.2(NLRP3):c.994A>G (p.Ser332Gly)
|
rs672601258
|
|
NM_001282225.2(ADA2):c.140G>C (p.Gly47Ala)
|
rs200930463
|
|
NM_001367624.2(ZNF469):c.713C>T (p.Ala238Val)
|
|
|
NM_001367624.2(ZNF469):c.8048G>A (p.Gly2683Glu)
|
rs912981227
|
|
NM_001370466.1(NOD2):c.*9G>A
|
rs104895459
|
|
NM_001370466.1(NOD2):c.1065C>G (p.Asp355Glu)
|
rs104895476
|
|
NM_001370466.1(NOD2):c.1066G>A (p.Glu356Lys)
|
rs104895477
|
|
NM_001370466.1(NOD2):c.1067A>G (p.Glu356Gly)
|
rs104895493
|
|
NM_001370466.1(NOD2):c.1160A>G (p.Asn387Ser)
|
rs104895429
|
|
NM_001370466.1(NOD2):c.1285C>T (p.Leu429=)
|
rs104895433
|
|
NM_001370466.1(NOD2):c.1306C>G (p.Pro436Ala)
|
rs104895482
|
|
NM_001370466.1(NOD2):c.1309G>T (p.Gly437Trp)
|
rs104895492
|
|
NM_001370466.1(NOD2):c.1324C>T (p.Leu442Phe)
|
rs104895460
|
|
NM_001370466.1(NOD2):c.1361G>A (p.Gly454Asp)
|
rs104895494
|
|
NM_001370466.1(NOD2):c.1388G>T (p.Trp463Leu)
|
rs104895480
|
|
NM_001370466.1(NOD2):c.1403G>A (p.Cys468Tyr)
|
rs104895478
|
|
NM_001370466.1(NOD2):c.1406A>T (p.His469Leu)
|
rs104895472
|
|
NM_001370466.1(NOD2):c.1457T>C (p.Met486Thr)
|
rs104895473
|
|
NM_001370466.1(NOD2):c.1567C>G (p.Leu523Val)
|
rs104895471
|
|
NM_001370466.1(NOD2):c.1591_1596del (p.Leu531_Gly532del)
|
rs104895436
|
|
NM_001370466.1(NOD2):c.1732A>C (p.Thr578Pro)
|
rs104895474
|
|
NM_001370466.1(NOD2):c.1753G>A (p.Ala585Thr)
|
rs104895438
|
|
NM_001370466.1(NOD2):c.1929C>A (p.Asn643Lys)
|
rs104895475
|
|
NM_001370466.1(NOD2):c.2139C>T (p.Ile713=)
|
rs104895441
|
|
NM_001370466.1(NOD2):c.2394C>G (p.Asn798Lys)
|
rs104895485
|
|
NM_001370466.1(NOD2):c.2477A>G (p.Asn826Ser)
|
rs104895446
|
|
NM_001370466.1(NOD2):c.2538C>T (p.Phe846=)
|
rs104895448
|
|
NM_001370466.1(NOD2):c.2549+35T>A
|
rs104895449
|
|
NM_001370466.1(NOD2):c.2550-5T>C
|
rs104895450
|
|
NM_001370466.1(NOD2):c.2634-81G>A
|
rs104895465
|
|
NM_001370466.1(NOD2):c.2638T>C (p.Trp880Arg)
|
rs104895490
|
|
NM_001370466.1(NOD2):c.276G>T (p.Leu92=)
|
rs672601267
|
|
NM_001370466.1(NOD2):c.2833G>A (p.Val945Ile)
|
rs104895455
|
|
NM_001370466.1(NOD2):c.631A>T (p.Ser211Cys)
|
rs1001861018
|
|
NM_001370466.1(NOD2):c.919C>T (p.Arg307Trp)
|
rs104895462
|
|
NM_001370466.1(NOD2):c.920G>A (p.Arg307Gln)
|
rs104895461
|
|
NM_001370466.1(NOD2):c.961C>G (p.Leu321Val)
|
rs104895428
|
|
NM_001370466.1(NOD2):c.984G>A (p.Trp328Ter)
|
rs104895488
|
|
NM_001375808.2(LPIN2):c.10G>T (p.Val4Leu)
|
rs2143203306
|
|
NM_001375808.2(LPIN2):c.1316_1317del (p.Ser439fs)
|
rs318240736
|
|
NM_001375808.2(LPIN2):c.2327+1G>C
|
rs80338808
|
|
NM_001375808.2(LPIN2):c.540_541del (p.Thr180_Cys181insTer)
|
rs80338806
|
|
NM_001844.5(COL2A1):c.1034G>A (p.Gly345Asp)
|
rs1939617011
|
|
NM_001844.5(COL2A1):c.1957C>T (p.Arg653Ter)
|
rs121912893
|
|
NM_001844.5(COL2A1):c.1999C>T (p.Leu667Phe)
|
rs121912885
|
|
NM_001844.5(COL2A1):c.2833G>A (p.Gly945Ser)
|
rs886039542
|
|
NM_001844.5(COL2A1):c.3943T>G (p.Cys1315Gly)
|
rs527236144
|
|
NM_001844.5(COL2A1):c.4018A>G (p.Lys1340Glu)
|
rs927945133
|
|
NM_001844.5(COL2A1):c.541G>C (p.Ala181Pro)
|
rs1939975439
|
|
NM_001987.5(ETV6):c.641C>T (p.Pro214Leu)
|
rs724159947
|
|
NM_001999.4(FBN2):c.2773G>A (p.Gly925Arg)
|
rs111405756
|
|
NM_001999.4(FBN2):c.4244G>T (p.Gly1415Val)
|
rs2126889179
|
|
NM_001999.4(FBN2):c.4346-2A>T
|
rs587776518
|
|
NM_001999.4(FBN2):c.8082C>A (p.His2694Gln)
|
rs142755118
|
|
NM_003238.6(TGFB2):c.59G>A (p.Ser20Asn)
|
rs1656695125
|
|
NM_003239.5(TGFB3):c.335A>G (p.Gln112Arg)
|
rs2035412849
|
|
NM_003242.6(TGFBR2):c.1159G>A (p.Val387Met)
|
rs35766612
|
|
NM_003977.4(AIP):c.140_163del (p.Gly47_Arg54del)
|
rs267606537
|
|
NM_003977.4(AIP):c.166C>A (p.Arg56Ser)
|
rs267606538
|
|
NM_003977.4(AIP):c.241C>T (p.Arg81Ter)
|
rs267606541
|
|
NM_003977.4(AIP):c.245_249del (p.Glu82fs)
|
rs267606542
|
|
NM_003977.4(AIP):c.249G>T (p.Gly83=)
|
rs104895072
|
|
NM_003977.4(AIP):c.250G>A (p.Glu84Lys)
|
rs267606543
|
|
NM_003977.4(AIP):c.280-1G>A
|
rs267606544
|
|
NM_003977.4(AIP):c.286_287del (p.Val96fs)
|
rs267606545
|
|
NM_003977.4(AIP):c.2T>C (p.Met1Thr)
|
rs267606546
|
|
NM_003977.4(AIP):c.308A>G (p.Lys103Arg)
|
rs267606548
|
|
NM_003977.4(AIP):c.350del (p.Gly117fs)
|
rs267606549
|
|
NM_003977.4(AIP):c.3_4insC (p.Ala2fs)
|
rs267606547
|
|
NM_003977.4(AIP):c.404del (p.His135fs)
|
rs267606551
|
|
NM_003977.4(AIP):c.424C>T (p.Gln142Ter)
|
rs267606552
|
|
NM_003977.4(AIP):c.429G>A (p.Gln143=)
|
rs267606553
|
|
NM_003977.4(AIP):c.468+1G>A
|
rs267606554
|
|
NM_003977.4(AIP):c.469-1G>A
|
rs267606555
|
|
NM_003977.4(AIP):c.469-2A>G
|
rs267606556
|
|
NM_003977.4(AIP):c.490C>T (p.Gln164Ter)
|
rs104895073
|
|
NM_003977.4(AIP):c.500del (p.Pro167fs)
|
rs267606557
|
|
NM_003977.4(AIP):c.521_525del (p.Glu174fs)
|
rs267606558
|
|
NM_003977.4(AIP):c.543del (p.Ile182fs)
|
rs267606559
|
|
NM_003977.4(AIP):c.550C>T (p.Gln184Ter)
|
rs267606560
|
|
NM_003977.4(AIP):c.601A>T (p.Lys201Ter)
|
rs267606563
|
|
NM_003977.4(AIP):c.646G>T (p.Glu216Ter)
|
rs267606565
|
|
NM_003977.4(AIP):c.649C>T (p.Gln217Ter)
|
rs267606566
|
|
NM_003977.4(AIP):c.64C>T (p.Arg22Ter)
|
rs121908357
|
|
NM_003977.4(AIP):c.662dup (p.Pro221_Glu222insTer)
|
rs104895075
|
|
NM_003977.4(AIP):c.66_71del (p.Gly23_Glu24del)
|
rs267606567
|
|
NM_003977.4(AIP):c.70G>T (p.Glu24Ter)
|
rs267606568
|
|
NM_003977.4(AIP):c.713G>A (p.Cys238Tyr)
|
rs267606569
|
|
NM_003977.4(AIP):c.714C>T (p.Cys238=)
|
rs267606570
|
|
NM_003977.4(AIP):c.715C>T (p.Gln239Ter)
|
rs267606571
|
|
NM_003977.4(AIP):c.721A>T (p.Lys241Ter)
|
rs267606573
|
|
NM_003977.4(AIP):c.739TAC[1] (p.Tyr248del)
|
rs267606574
|
|
NM_003977.4(AIP):c.769A>G (p.Ile257Val)
|
rs267606575
|
|
NM_003977.4(AIP):c.803A>G (p.Tyr268Cys)
|
rs267606577
|
|
NM_003977.4(AIP):c.805_825dup (p.Phe269_His275dup)
|
rs267606578
|
|
NM_003977.4(AIP):c.811C>T (p.Arg271Trp)
|
rs267606579
|
|
NM_003977.4(AIP):c.824dup (p.His275fs)
|
rs267606580
|
|
NM_003977.4(AIP):c.829G>C (p.Ala277Pro)
|
rs267606581
|
|
NM_003977.4(AIP):c.854_857del (p.Gln285fs)
|
rs267606582
|
|
NM_003977.4(AIP):c.987C>T (p.Ser329=)
|
rs267606587
|
|
NM_003978.5(PSTPIP1):c.748G>A (p.Glu250Lys)
|
rs28939089
|
|
NM_003978.5(PSTPIP1):c.796G>A (p.Asp266Asn)
|
rs104895418
|
|
NM_004327.4(BCR):c.2707+21G>T
|
rs527236142
|
|
NM_004327.4(BCR):c.2750T>A (p.Val917Asp)
|
rs527236143
|
|
NM_004364.5(CEBPA):c.141del (p.Ala48fs)
|
rs137852730
|
|
NM_004364.5(CEBPA):c.147_165del (p.Glu50fs)
|
rs2145264004
|
|
NM_004364.5(CEBPA):c.157G>A (p.Gly53Ser)
|
rs1967196253
|
|
NM_004364.5(CEBPA):c.158del (p.Gly53fs)
|
rs2145264074
|
|
NM_004364.5(CEBPA):c.189del (p.Asp63fs)
|
rs2145263853
|
|
NM_004364.5(CEBPA):c.314_315insT (p.Phe106fs)
|
rs2145263088
|
|
NM_004364.5(CEBPA):c.442G>T (p.Glu148Ter)
|
rs1388478228
|
|
NM_004364.5(CEBPA):c.68del (p.Pro23fs)
|
rs137852728
|
|
NM_004364.5(CEBPA):c.68dup (p.His24fs)
|
rs137852728
|
|
NM_004364.5(CEBPA):c.932A>C (p.Gln311Pro)
|
rs2145258913
|
|
NM_004895.3:c.3006-45_3006-44del
|
|
|
NM_004985.5(KRAS):c.436G>A (p.Ala146Thr)
|
rs121913527
|
|
NM_005157.6(ABL1):c.949T>C (p.Phe317Leu)
|
rs1057519773
|
|
NM_006397.3(RNASEH2A):c.109G>A (p.Gly37Ser)
|
rs76857106
|
|
NM_006397.3(RNASEH2A):c.207dup (p.Thr70fs)
|
rs77672568
|
|
NM_006397.3(RNASEH2A):c.322C>T (p.Arg108Trp)
|
rs76436818
|
|
NM_006397.3(RNASEH2A):c.690C>A (p.Phe230Leu)
|
rs79767407
|
|
NM_006397.3(RNASEH2A):c.716_717dup (p.Thr240fs)
|
rs78705193
|
|
NM_006397.3(RNASEH2A):c.75C>T (p.Arg25=)
|
rs397515479
|
|
NM_015474.4(SAMHD1):c.1106T>C (p.Leu369Ser)
|
rs515726139
|
|
NM_015474.4(SAMHD1):c.1153A>G (p.Met385Val)
|
rs515726140
|
|
NM_015474.4(SAMHD1):c.1324C>T (p.Arg442Ter)
|
rs369587937
|
|
NM_015474.4(SAMHD1):c.1503+1G>T
|
rs515726142
|
|
NM_015474.4(SAMHD1):c.1609-1G>C
|
rs515726143
|
|
NM_015474.4(SAMHD1):c.359_370del (p.Asp120_His123del)
|
rs515726144
|
|
NM_015474.4(SAMHD1):c.434G>A (p.Arg145Gln)
|
rs515726145
|
|
NM_015474.4(SAMHD1):c.445C>T (p.Gln149Ter)
|
rs121434518
|
|
NM_015474.4(SAMHD1):c.760A>G (p.Met254Val)
|
rs121434521
|
|
NM_015559.3(SETBP1):c.2608G>A (p.Gly870Ser)
|
rs267607040
|
|
NM_015922.3(NSDHL):c.1046A>G (p.Tyr349Cys)
|
rs137853863
|
|
NM_015922.3(NSDHL):c.262C>T (p.Arg88Ter)
|
rs104894903
|
|
NM_015922.3(NSDHL):c.314C>T (p.Ala105Val)
|
rs104894909
|
|
NM_015922.3(NSDHL):c.613G>A (p.Gly205Ser)
|
rs104894901
|
|
NM_018699.4(PRDM5):c.1208C>G (p.Pro403Arg)
|
rs769647986
|
|
NM_022168.4(IFIH1):c.2158C>G (p.Arg720Gly)
|
rs761864966
|
|
NM_022168.4(IFIH1):c.730T>C (p.Ser244Pro)
|
rs753380568
|
|
NM_023110.3(FGFR1):c.1638C>A (p.Asn546Lys)
|
rs779707422
|
|
NM_023110.3(FGFR1):c.1966A>G (p.Lys656Glu)
|
rs869320694
|
|
NM_030777.4(SLC2A10):c.1334del (p.Gly445fs)
|
rs587776600
|
|
NM_030777.4(SLC2A10):c.1411+1G>A
|
rs864309479
|
|
NM_030777.4(SLC2A10):c.1411+480_1547+299del
|
|
|
NM_030777.4(SLC2A10):c.243C>G (p.Ser81Arg)
|
rs80358230
|
|
NM_030777.4(SLC2A10):c.417T>A (p.Tyr139Ter)
|
rs572620317
|
|
NM_030777.4(SLC2A10):c.425G>T (p.Gly142Val)
|
rs864309480
|
|
NM_030777.4(SLC2A10):c.510G>A (p.Trp170Ter)
|
rs80358229
|
|
NM_030777.4(SLC2A10):c.731_734del (p.Leu244fs)
|
rs864309481
|
|
NM_030777.4(SLC2A10):c.756C>A (p.Cys252Ter)
|
rs864309478
|
|
NM_030777.4(SLC2A10):c.961del (p.Val321fs)
|
rs587776599
|
|
NM_032193.4(RNASEH2C):c.268_269delinsGT (p.Lys90Val)
|
rs1565213438
|
|
NM_033629.6(TREX1):c.212_213dup (p.Ala72fs)
|
rs74689946
|
|
NM_033629.6(TREX1):c.365T>C (p.Val122Ala)
|
rs79993407
|
|
NM_033629.6(TREX1):c.366_368dup (p.Ala123dup)
|
rs77371662
|
|
NM_033629.6(TREX1):c.393_408dup (p.Glu137fs)
|
rs74876396
|
|
NM_033629.6(TREX1):c.397del (p.Leu133fs)
|
rs78762691
|
|
NM_033629.6(TREX1):c.52G>A (p.Asp18Asn)
|
rs121908117
|
|
NM_033629.6(TREX1):c.599_601dup (p.Asp200dup)
|
rs74556809
|
|
NM_033629.6(TREX1):c.602T>A (p.Val201Asp)
|
rs78408272
|
|
NM_033629.6(TREX1):c.609_662dup (p.Leu204_Ala221dup)
|
rs78379807
|
|
NM_033629.6(TREX1):c.625_628dup (p.Trp210fs)
|
rs78948846
|
|
NM_033629.6(TREX1):c.868_885del (p.Pro290_Ala295del)
|
rs79318303
|
|
NM_054021.2(GPR101):c.1098C>A (p.Asp366Glu)
|
rs1556379508
|
|
NM_054021.2(GPR101):c.924G>C (p.Glu308Asp)
|
rs73637412
|
|
NM_144687.4(NLRP12):c.2468_2470delinsCTT (p.Leu823_Gly824delinsProCys)
|
rs2091916523
|
|
NM_212482.4(FN1):c.2422ACA[1] (p.Thr809del)
|
rs1553636502
|
|
NM_212482.4(FN1):c.260G>T (p.Cys87Phe)
|
rs1553669703
|
|
NM_212482.4(FN1):c.718T>G (p.Tyr240Asp)
|
rs1553659131
|
|