NM_012275.3(IL36RN):c.*276A>G
|
rs1800930
|
0.64674
|
NM_012275.3(IL36RN):c.*418A>G
|
rs3180235
|
0.64649
|
NM_012275.3(IL36RN):c.*560C>G
|
rs2472188
|
0.64649
|
NM_012275.3(IL36RN):c.*222T>C
|
rs2515401
|
0.64643
|
NM_012275.3(IL36RN):c.*326C>A
|
rs2515402
|
0.64633
|
NM_004612.4(TGFBR1):c.*2103T>G
|
rs7871490
|
0.12488
|
NM_001367624.2(ZNF469):c.*634C>A
|
rs74032868
|
0.03588
|
NM_004612.4(TGFBR1):c.*2112G>T
|
rs60885995
|
0.03132
|
NM_001370466.1(NOD2):c.2023C>T (p.Arg675Trp)
|
rs2066844
|
0.02936
|
NM_173842.3(IL1RN):c.*162C>T
|
rs4252041
|
0.02647
|
NM_001367624.2(ZNF469):c.1827G>A (p.Ser609=)
|
rs148616993
|
0.02438
|
NM_000243.3(MEFV):c.442G>C (p.Glu148Gln)
|
rs3743930
|
0.02112
|
NM_199242.2(UNC13D):c.-260C>T
|
rs113482537
|
0.01892
|
NM_000138.5(FBN1):c.2420-58del
|
rs149403312
|
0.01826
|
NM_004273.5(CHST3):c.*406G>A
|
rs80210009
|
0.01614
|
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_000243.3(MEFV):c.*845C>T
|
rs371608683
|
0.01225
|
NM_001065.4(TNFRSF1A):c.362G>A (p.Arg121Gln)
|
rs4149584
|
0.01206
|
NM_018699.4(PRDM5):c.*120T>C
|
rs77157999
|
0.01181
|
NM_003238.6(TGFB2):c.-620G>A
|
rs886045971
|
0.01029
|
NM_003982.4(SLC7A7):c.*272C>T
|
rs143575981
|
0.01026
|
NM_000243.3(MEFV):c.1772T>C (p.Ile591Thr)
|
rs11466045
|
0.01021
|
NM_000791.4(DHFR):c.-416C>G
|
rs2001675
|
0.00949
|
NM_004273.5(CHST3):c.*346C>T
|
rs76094341
|
0.00947
|
NM_000243.3(MEFV):c.1261-11T>G
|
rs77086855
|
0.00875
|
NM_001375808.2(LPIN2):c.*438C>T
|
rs150379164
|
0.00868
|
NM_000243.3(MEFV):c.2118G>A (p.Pro706=)
|
rs2234939
|
0.00864
|
NM_001367624.2(ZNF469):c.*665G>A
|
rs75706884
|
0.00863
|
NM_001367624.2(ZNF469):c.1584G>A (p.Pro528=)
|
rs143852982
|
0.00854
|
NM_001367624.2(ZNF469):c.952G>A (p.Val318Met)
|
rs139066376
|
0.00852
|
NM_004273.5(CHST3):c.*3306A>G
|
rs12250549
|
0.00836
|
NM_001243133.2(NLRP3):c.592G>A (p.Val198Met)
|
rs121908147
|
0.00835
|
NM_004273.5(CHST3):c.*274C>T
|
rs116508900
|
0.00804
|
NM_001367624.2(ZNF469):c.2085C>T (p.Pro695=)
|
rs74547407
|
0.00765
|
NM_001367624.2(ZNF469):c.8625G>A (p.Pro2875=)
|
rs138771545
|
0.00751
|
NM_000138.5(FBN1):c.986T>C (p.Ile329Thr)
|
rs12324002
|
0.00737
|
NM_000243.3(MEFV):c.1503C>T (p.Arg501=)
|
rs76464258
|
0.00733
|
NM_022168.4(IFIH1):c.1641+1G>C
|
rs35337543
|
0.00728
|
NM_001367624.2(ZNF469):c.8067G>A (p.Gly2689=)
|
rs116213189
|
0.00697
|
NM_004273.5(CHST3):c.*4341C>A
|
rs12267478
|
0.00688
|
NM_000302.3(PLOD1):c.-77G>A
|
rs144465849
|
0.00649
|
NM_002904.6(NELFE):c.-30C>A
|
rs182142262
|
0.00631
|
NM_000243.3(MEFV):c.*9C>T
|
rs11466048
|
0.00618
|
NM_000243.3(MEFV):c.*639G>A
|
rs181380218
|
0.00614
|
NM_001375808.2(LPIN2):c.*358G>A
|
rs184193388
|
0.00608
|
NM_001367624.2(ZNF469):c.*264A>G
|
rs193210256
|
0.00591
|
NM_001367624.2(ZNF469):c.627G>T (p.Gly209=)
|
rs113227277
|
0.00590
|
NM_004273.5(CHST3):c.*1009C>T
|
rs190763138
|
0.00583
|
NM_001065.4(TNFRSF1A):c.224C>T (p.Pro75Leu)
|
rs4149637
|
0.00574
|
NM_001270508.2(TNFAIP3):c.374C>T (p.Ala125Val)
|
rs5029941
|
0.00569
|
NM_004273.5(CHST3):c.417C>T (p.Ala139=)
|
rs144287889
|
0.00564
|
NM_001370466.1(NOD2):c.785A>G (p.Asn262Ser)
|
rs5743271
|
0.00557
|
NM_004273.5(CHST3):c.1347C>T (p.Arg449=)
|
rs200249458
|
0.00538
|
NM_001367624.2(ZNF469):c.2717C>T (p.Pro906Leu)
|
rs77951481
|
0.00528
|
NM_000243.3(MEFV):c.*701G>A
|
rs368896227
|
0.00516
|
NM_001844.5(COL2A1):c.*305G>A
|
rs532700241
|
0.00516
|
NM_004273.5(CHST3):c.*523A>G
|
rs189173490
|
0.00516
|
NM_000243.3(MEFV):c.2084A>G (p.Lys695Arg)
|
rs104895094
|
0.00506
|
NM_000243.3(MEFV):c.2163C>T (p.Phe721=)
|
rs11466047
|
0.00484
|
NM_004273.5(CHST3):c.561G>C (p.Val187=)
|
rs147804585
|
0.00480
|
NM_058172.6(ANTXR2):c.*2446C>T
|
rs186733755
|
0.00476
|
NM_144687.4(NLRP12):c.3046C>T (p.Arg1016Ter)
|
rs35064500
|
0.00470
|
NM_012275.3(IL36RN):c.*1995T>C
|
rs28938782
|
0.00468
|
NM_004612.4(TGFBR1):c.*2081G>T
|
rs200898127
|
0.00465
|
NM_000243.3(MEFV):c.1356+31G>T
|
rs142775938
|
0.00459
|
NM_000243.3(MEFV):c.1760-4G>A
|
rs79662406
|
0.00459
|
NM_001171.6(ABCC6):c.1171A>G (p.Arg391Gly)
|
rs72653762
|
0.00459
|
NM_000431.3(MVK):c.-178A>G
|
rs67606936
|
0.00444
|
NM_001367624.2(ZNF469):c.*599C>G
|
rs146233624
|
0.00440
|
NM_002296.4(LBR):c.1609T>G (p.Ser537Ala)
|
rs80299691
|
0.00426
|
NM_001330360.2(POLA1):c.3622G>C (p.Asp1208His)
|
rs41548013
|
0.00404
|
NM_004273.5(CHST3):c.828C>T (p.Arg276=)
|
rs140547825
|
0.00397
|
NM_144687.4(NLRP12):c.910C>T (p.His304Tyr)
|
rs141245482
|
0.00392
|
NM_004273.5(CHST3):c.*2660C>T
|
rs143743853
|
0.00389
|
NM_080425.4(GNAS):c.1455C>A (p.Ala485=)
|
rs55890501
|
0.00388
|
NM_001558.4(IL10RA):c.*1555C>T
|
rs182393130
|
0.00386
|
NM_001367624.2(ZNF469):c.5856T>C (p.Cys1952=)
|
rs186652137
|
0.00374
|
NM_002168.4(IDH2):c.1304C>T (p.Thr435Met)
|
rs118053940
|
0.00372
|
NM_004273.5(CHST3):c.*855A>C
|
rs181471425
|
0.00370
|
NM_000243.3(MEFV):c.42G>A (p.Glu14=)
|
rs113314808
|
0.00369
|
NM_004273.5(CHST3):c.*1130C>G
|
rs4148942
|
0.00369
|
NM_004273.5(CHST3):c.*856C>G
|
rs186004202
|
0.00369
|
NM_004612.4(TGFBR1):c.*2092G>T
|
rs199545273
|
0.00369
|
NM_000243.3(MEFV):c.*74C>T
|
rs11466050
|
0.00365
|
NM_001367624.2(ZNF469):c.9321G>A (p.Pro3107=)
|
rs543846859
|
0.00365
|
NM_001999.4(FBN2):c.6511+5G>A
|
rs200608284
|
0.00363
|
NM_000138.5(FBN1):c.3082+8del
|
rs193922196
|
0.00359
|
NM_003238.6(TGFB2):c.619G>C (p.Val207Leu)
|
rs10482810
|
0.00359
|
NM_199242.3(UNC13D):c.2335G>A (p.Val779Met)
|
rs113861754
|
0.00355
|
NM_001367624.2(ZNF469):c.11658G>C (p.Gln3886His)
|
rs182269913
|
0.00354
|
NM_000243.3(MEFV):c.*1029G>C
|
rs142648477
|
0.00351
|
NM_001367624.2(ZNF469):c.6388C>G (p.Leu2130Val)
|
rs562559927
|
0.00344
|
NM_000243.3(MEFV):c.1467G>A (p.Gln489=)
|
rs61732424
|
0.00341
|
NM_001370466.1(NOD2):c.2026C>T (p.Arg676Cys)
|
rs5743277
|
0.00340
|
NM_001611.5(ACP5):c.814C>T (p.Arg272Cys)
|
rs147025508
|
0.00338
|
NM_000088.4(COL1A1):c.613C>G (p.Pro205Ala)
|
rs72667032
|
0.00331
|
NM_001367624.2(ZNF469):c.6259G>A (p.Ala2087Thr)
|
rs144986357
|
0.00330
|
NM_000302.4(PLOD1):c.1534C>T (p.Arg512Cys)
|
rs138490756
|
0.00328
|
NM_030777.4(SLC2A10):c.*180A>G
|
rs188370349
|
0.00321
|
NM_000243.3(MEFV):c.910G>A (p.Gly304Arg)
|
rs75977701
|
0.00316
|
NM_001375808.2(LPIN2):c.*806C>T
|
rs144349249
|
0.00316
|
NM_001065.4(TNFRSF1A):c.-96C>T
|
rs115164694
|
0.00312
|
NM_001370466.1(NOD2):c.2183C>T (p.Ala728Val)
|
rs61747625
|
0.00307
|
NM_000243.3(MEFV):c.-15C>G
|
rs11466015
|
0.00306
|
NM_001122681.2(SH3BP2):c.1514C>G (p.Ser505Cys)
|
rs144577122
|
0.00299
|
NM_000628.5(IL10RB):c.*816T>C
|
rs118117891
|
0.00298
|
NM_004273.5(CHST3):c.*290G>C
|
rs184330297
|
0.00296
|
NM_001558.4(IL10RA):c.67+8T>C
|
rs200992970
|
0.00290
|
NM_001199138.2(NLRC4):c.2357G>T (p.Gly786Val)
|
rs149451729
|
0.00287
|
NM_001367624.2(ZNF469):c.2931C>T (p.Gly977=)
|
rs539527724
|
0.00287
|
NM_001367624.2(ZNF469):c.1615A>T (p.Ser539Cys)
|
rs189476639
|
0.00283
|
NM_001844.5(COL2A1):c.2574C>T (p.Gly858=)
|
rs141423593
|
0.00278
|
NM_004836.7(EIF2AK3):c.1697A>T (p.Asp566Val)
|
rs55791823
|
0.00277
|
NM_000081.4(LYST):c.8913T>G (p.Asn2971Lys)
|
rs34702903
|
0.00276
|
NM_025132.4(WDR19):c.2792A>C (p.Tyr931Ser)
|
rs187546086
|
0.00275
|
NM_058172.6(ANTXR2):c.*5761A>G
|
rs541962244
|
0.00275
|
NM_003982.4(SLC7A7):c.720A>C (p.Ser240=)
|
rs151261004
|
0.00274
|
NM_001375808.2(LPIN2):c.-10+1206A>T
|
rs112648131
|
0.00272
|
NM_006949.4(STXBP2):c.49G>A (p.Gly17Arg)
|
rs146165014
|
0.00270
|
NM_001367624.2(ZNF469):c.3472C>T (p.Pro1158Ser)
|
rs184894059
|
0.00268
|
NM_001367624.2(ZNF469):c.8869G>A (p.Gly2957Ser)
|
rs573884006
|
0.00266
|
NM_012275.3(IL36RN):c.338C>T (p.Ser113Leu)
|
rs144478519
|
0.00264
|
NM_004273.5(CHST3):c.*981A>T
|
rs573670057
|
0.00258
|
NM_000071.3(CBS):c.1105C>T (p.Arg369Cys)
|
rs117687681
|
0.00255
|
NM_001367624.2(ZNF469):c.4198C>A (p.Pro1400Thr)
|
rs145158875
|
0.00255
|
NM_001367624.2(ZNF469):c.4472C>T (p.Thr1491Met)
|
rs375045076
|
0.00255
|
NM_001375808.2(LPIN2):c.1510C>T (p.Leu504Phe)
|
rs104895500
|
0.00253
|
NM_000243.3(MEFV):c.97G>T (p.Val33Leu)
|
rs11466016
|
0.00250
|
NM_000088.4(COL1A1):c.1984-5C>A
|
rs66592376
|
0.00249
|
NM_003238.6(TGFB2):c.-644A>G
|
rs747761067
|
0.00246
|
NM_080628.3(TLDC2):c.*18-170C>T
|
rs143588093
|
0.00244
|
NM_005529.7(HSPG2):c.3945T>C (p.Ser1315=)
|
rs72866991
|
0.00243
|
NM_030777.4(SLC2A10):c.*389C>G
|
rs147684335
|
0.00243
|
NM_001065.4(TNFRSF1A):c.1110C>T (p.Arg370=)
|
rs201683984
|
0.00236
|
NM_001854.4(COL11A1):c.2921C>A (p.Pro974Gln)
|
rs78046647
|
0.00233
|
NM_032193.4(RNASEH2C):c.*1699G>C
|
rs149989742
|
0.00233
|
NM_032193.4(RNASEH2C):c.417C>G (p.Gly139=)
|
rs147021687
|
0.00229
|
NM_001367624.2(ZNF469):c.7267C>A (p.Pro2423Thr)
|
rs199727372
|
0.00222
|
NM_130384.3(ATRIP):c.*655G>C
|
rs577465983
|
0.00222
|
NM_012275.3(IL36RN):c.6C>T (p.Val2=)
|
rs28938771
|
0.00221
|
NM_014639.4(SKIC3):c.3875C>G (p.Thr1292Ser)
|
rs138956788
|
0.00220
|
NM_001367624.2(ZNF469):c.*420G>A
|
rs45532839
|
0.00219
|
NM_000243.3(MEFV):c.329T>C (p.Leu110Pro)
|
rs11466018
|
0.00217
|
NM_004239.4(TRIP11):c.2102A>G (p.Asn701Ser)
|
rs139539448
|
0.00217
|
NM_001375808.2(LPIN2):c.-10+1256G>A
|
rs181504392
|
0.00215
|
NM_001171.6(ABCC6):c.742C>T (p.Leu248Phe)
|
rs72653756
|
0.00214
|
NM_012275.3(IL36RN):c.*1866T>C
|
rs72946731
|
0.00214
|
NM_001999.4(FBN2):c.829G>A (p.Val277Ile)
|
rs146849637
|
0.00210
|
NM_000243.3(MEFV):c.1459G>C (p.Val487Leu)
|
rs104895100
|
0.00207
|
NM_001367624.2(ZNF469):c.*421G>T
|
rs148260049
|
0.00207
|
NM_022168.4(IFIH1):c.2362G>A (p.Ala788Thr)
|
rs148369169
|
0.00207
|
NM_024529.5(CDC73):c.*3419T>A
|
rs566373225
|
0.00205
|
NM_004273.5(CHST3):c.*3445G>A
|
rs185581202
|
0.00203
|
NM_000243.3(MEFV):c.1173T>C (p.Asp391=)
|
rs146077729
|
0.00201
|
NM_001367624.2(ZNF469):c.7553C>A (p.Pro2518His)
|
rs201943633
|
0.00196
|
NM_006949.4(STXBP2):c.1459G>A (p.Val487Met)
|
rs150174842
|
0.00195
|
NM_001270508.2(TNFAIP3):c.1939A>C (p.Thr647Pro)
|
rs142253225
|
0.00189
|
NM_001367624.2(ZNF469):c.*518G>A
|
rs563015267
|
0.00189
|
NM_001367624.2(ZNF469):c.7079C>T (p.Pro2360Leu)
|
rs76389306
|
0.00188
|
NM_058172.6(ANTXR2):c.*1126T>A
|
rs192905651
|
0.00188
|
NM_000572.3(IL10):c.43G>A (p.Gly15Arg)
|
rs145922845
|
0.00186
|
NM_001367624.2(ZNF469):c.10700G>A (p.Gly3567Glu)
|
rs199610834
|
0.00185
|
NM_001367624.2(ZNF469):c.139G>A (p.Gly47Ser)
|
rs138954293
|
0.00180
|
NM_001375462.1(LPP):c.451T>C (p.Ser151Pro)
|
rs35746269
|
0.00180
|
NM_001367624.2(ZNF469):c.10888C>T (p.Arg3630Cys)
|
rs200668806
|
0.00179
|
NM_058172.6(ANTXR2):c.*2226A>T
|
rs533517816
|
0.00179
|
NM_004273.5(CHST3):c.*809C>T
|
rs145689465
|
0.00178
|
NM_001375808.2(LPIN2):c.-10+1381T>C
|
rs566304730
|
0.00176
|
NM_000431.4(MVK):c.*332C>T
|
rs574536495
|
0.00175
|
NM_002474.3(MYH11):c.739C>T (p.Arg247Cys)
|
rs150759461
|
0.00174
|
NM_001367624.2(ZNF469):c.1609G>A (p.Val537Met)
|
rs184458982
|
0.00172
|
NM_000081.4(LYST):c.3683A>G (p.Asn1228Ser)
|
rs145553827
|
0.00171
|
NM_000431.4(MVK):c.*601G>A
|
rs536969522
|
0.00170
|
NM_000138.5(FBN1):c.3509G>A (p.Arg1170His)
|
rs137854475
|
0.00168
|
NM_006929.5(SKIC2):c.3666G>A (p.Leu1222=)
|
rs142860816
|
0.00168
|
NM_024570.4(RNASEH2B):c.*246A>G
|
rs147825612
|
0.00166
|
NM_030777.4(SLC2A10):c.-15C>T
|
rs377142129
|
0.00166
|
NM_001142279.2(RNASEH2B):c.-399C>G
|
rs553965425
|
0.00165
|
NM_025132.4(WDR19):c.2361C>T (p.Phe787=)
|
rs200133722
|
0.00165
|
NM_000071.3(CBS):c.1059G>A (p.Thr353=)
|
rs61735859
|
0.00162
|
NM_001111.5(ADAR):c.577C>G (p.Pro193Ala)
|
rs145588689
|
0.00162
|
NM_080680.3(COL11A2):c.1615C>T (p.Arg539Trp)
|
rs145499142
|
0.00162
|
NM_054027.6(ANKH):c.*3962T>C
|
rs528418242
|
0.00159
|
NM_054027.6(ANKH):c.*3616C>T
|
rs550672520
|
0.00158
|
NM_000138.5(FBN1):c.1714+54del
|
rs193922184
|
0.00156
|
NM_000302.4(PLOD1):c.77-3358C>T
|
rs534978828
|
0.00153
|
NM_183235.3(RAB27A):c.-93G>T
|
rs181491869
|
0.00151
|
NM_000138.5(FBN1):c.*1252A>G
|
rs566419089
|
0.00150
|
NM_001457.4(FLNB):c.6683T>C (p.Ile2228Thr)
|
rs149629209
|
0.00148
|
NM_003036.4(SKI):c.1196C>T (p.Ala399Val)
|
rs141862996
|
0.00148
|
NM_001375808.2(LPIN2):c.*100G>A
|
rs564971189
|
0.00147
|
NM_006397.3(RNASEH2A):c.-49C>T
|
rs375281767
|
0.00146
|
NM_058172.6(ANTXR2):c.*702A>C
|
rs537492648
|
0.00146
|
NM_014639.4(SKIC3):c.2275C>T (p.Leu759Phe)
|
rs145496449
|
0.00143
|
NM_024529.5(CDC73):c.*1365T>C
|
rs180929933
|
0.00143
|
NM_001375808.2(LPIN2):c.991G>T (p.Ala331Ser)
|
rs80338805
|
0.00142
|
NM_006949.4(STXBP2):c.1455C>T (p.Asp485=)
|
rs146425381
|
0.00142
|
NM_000431.4(MVK):c.924C>T (p.Leu308=)
|
rs72648042
|
0.00140
|
NM_001367624.2(ZNF469):c.2270T>G (p.Leu757Arg)
|
rs753664726
|
0.00140
|
NM_001083116.3(PRF1):c.873C>T (p.Ser291=)
|
rs149008090
|
0.00139
|
NM_080628.3(TLDC2):c.*18-435A>T
|
rs747128919
|
0.00139
|
NM_001370466.1(NOD2):c.2291G>A (p.Arg764Gln)
|
rs104895464
|
0.00137
|
NM_000243.3(MEFV):c.1610+10G>T
|
rs11466033
|
0.00136
|
NM_022124.6(CDH23):c.2239C>T (p.Arg747Cys)
|
rs200649500
|
0.00136
|
NM_000138.5(FBN1):c.*2398G>T
|
rs377530465
|
0.00135
|
NM_001111.5(ADAR):c.2668+6T>C
|
rs190881240
|
0.00135
|
NM_001367624.2(ZNF469):c.10330G>C (p.Gly3444Arg)
|
rs569602115
|
0.00135
|
NM_001367624.2(ZNF469):c.725G>T (p.Ser242Ile)
|
rs536586591
|
0.00135
|
NM_020779.4(WDR35):c.1183A>T (p.Asn395Tyr)
|
rs143343508
|
0.00135
|
NM_001457.4(FLNB):c.420G>A (p.Thr140=)
|
rs192491895
|
0.00134
|
NM_000243.3(MEFV):c.986G>A (p.Arg329His)
|
rs104895112
|
0.00133
|
NM_001367624.2(ZNF469):c.8788G>T (p.Asp2930Tyr)
|
rs76792613
|
0.00133
|
NM_001457.4(FLNB):c.3169A>C (p.Lys1057Gln)
|
rs13321615
|
0.00133
|
NM_004239.4(TRIP11):c.382G>T (p.Ala128Ser)
|
rs141553918
|
0.00133
|
NM_005529.7(HSPG2):c.4601C>G (p.Pro1534Arg)
|
rs142736845
|
0.00133
|
NM_004612.4(TGFBR1):c.*2685T>G
|
rs145043837
|
0.00132
|
NM_001370466.1(NOD2):c.1970G>A (p.Arg657Gln)
|
rs114664276
|
0.00131
|
NM_001375808.2(LPIN2):c.*251C>T
|
rs563023966
|
0.00131
|
NM_001558.4(IL10RA):c.*866C>A
|
rs145605428
|
0.00130
|
NM_001558.4(IL10RA):c.698T>G (p.Val233Gly)
|
rs138929400
|
0.00130
|
NM_003242.6(TGFBR2):c.1119G>A (p.Met373Ile)
|
rs35719192
|
0.00130
|
NM_001065.4(TNFRSF1A):c.*178C>T
|
rs186356476
|
0.00129
|
NM_001366385.1(CARD14):c.796C>T (p.Arg266Cys)
|
rs138616955
|
0.00128
|
NM_001844.5(COL2A1):c.85+10C>G
|
rs769941617
|
0.00128
|
NM_030777.4(SLC2A10):c.1512G>A (p.Ser504=)
|
rs117587497
|
0.00128
|
NM_000127.3(EXT1):c.-678C>T
|
rs886062644
|
0.00127
|
NM_000628.5(IL10RB):c.442G>A (p.Val148Met)
|
rs45545138
|
0.00125
|
NM_003242.6(TGFBR2):c.*742C>T
|
rs17026328
|
0.00125
|
NM_012275.3(IL36RN):c.169G>A (p.Val57Ile)
|
rs77864207
|
0.00124
|
NM_024753.5(TTC21B):c.511G>A (p.Gly171Arg)
|
rs199821354
|
0.00124
|
NM_001122681.2(SH3BP2):c.937G>A (p.Gly313Arg)
|
rs141518457
|
0.00123
|
NM_000243.3(MEFV):c.124C>T (p.Arg42Trp)
|
rs61754767
|
0.00121
|
NM_144687.3(NLRP12):c.-143C>A
|
rs190223587
|
0.00121
|
NM_000393.5(COL5A2):c.3316C>T (p.Arg1106Trp)
|
rs146789395
|
0.00119
|
NM_058172.6(ANTXR2):c.*4576A>G
|
rs181895498
|
0.00119
|
NM_024529.5(CDC73):c.*1472T>G
|
rs576716003
|
0.00117
|
NM_003242.6(TGFBR2):c.*2066G>A
|
rs566913021
|
0.00116
|
NM_001367624.2(ZNF469):c.8705C>T (p.Thr2902Met)
|
rs536725615
|
0.00115
|
NM_002904.6(NELFE):c.-61G>C
|
rs546698443
|
0.00115
|
NM_003977.4(AIP):c.911G>A (p.Arg304Gln)
|
rs104894190
|
0.00115
|
NM_001375808.2(LPIN2):c.*903T>A
|
rs78462116
|
0.00114
|
NM_024529.5(CDC73):c.*2446C>T
|
rs572307472
|
0.00114
|
NM_000138.5(FBN1):c.4441A>G (p.Ser1481Gly)
|
rs61730054
|
0.00113
|
NM_022168.4(IFIH1):c.2863C>G (p.Gln955Glu)
|
rs144455277
|
0.00113
|
NM_002796.3(PSMB4):c.-9G>A
|
rs200946642
|
0.00112
|
NM_001375808.2(LPIN2):c.*1418G>A
|
rs552844041
|
0.00111
|
NM_032193.4(RNASEH2C):c.*317C>T
|
rs549238084
|
0.00110
|
NM_004972.4(JAK2):c.1641+6T>C
|
rs182123615
|
0.00109
|
NM_005546.4(ITK):c.1276C>T (p.Leu426=)
|
rs145991142
|
0.00109
|
NM_000138.5(FBN1):c.2956G>A (p.Ala986Thr)
|
rs112287730
|
0.00107
|
NM_001127671.2(LIFR):c.2302A>G (p.Arg768Gly)
|
rs139848756
|
0.00107
|
NM_024753.5(TTC21B):c.2472G>A (p.Leu824=)
|
rs114725374
|
0.00107
|
NM_000081.4(LYST):c.7506A>G (p.Gln2502=)
|
rs140434436
|
0.00106
|
NM_199242.3(UNC13D):c.2542A>C (p.Ile848Leu)
|
rs144968313
|
0.00106
|
NM_000302.4(PLOD1):c.137G>A (p.Arg46His)
|
rs142710681
|
0.00105
|
NM_199242.3(UNC13D):c.2983G>C (p.Ala995Pro)
|
rs138760432
|
0.00105
|
NM_002661.5(PLCG2):c.923C>T (p.Ala308Val)
|
rs199636472
|
0.00104
|
NM_000138.5(FBN1):c.*2024A>G
|
rs558488257
|
0.00103
|
NM_004239.4(TRIP11):c.1280T>C (p.Leu427Ser)
|
rs34761938
|
0.00103
|
NM_052989.3(IFT122):c.2433C>T (p.Cys811=)
|
rs141626835
|
0.00103
|
NM_001189.4(NKX3-2):c.148T>G (p.Cys50Gly)
|
rs371597026
|
0.00102
|
NM_000388.4(CASR):c.-154T>A
|
rs186365367
|
0.00101
|
NM_001367624.2(ZNF469):c.4479G>A (p.Pro1493=)
|
rs373162171
|
0.00101
|
NM_005529.7(HSPG2):c.745G>A (p.Val249Met)
|
rs148066529
|
0.00101
|
NM_030777.4(SLC2A10):c.515C>T (p.Thr172Ile)
|
rs143301610
|
0.00100
|
NM_000388.4(CASR):c.6A>C (p.Ala2=)
|
rs112042188
|
0.00098
|
NM_001457.4(FLNB):c.1697G>A (p.Arg566Gln)
|
rs150747960
|
0.00098
|
NM_004273.5(CHST3):c.1197C>T (p.Asp399=)
|
rs184636110
|
0.00097
|
NM_001457.4(FLNB):c.808A>G (p.Met270Val)
|
rs145036794
|
0.00096
|
NM_001853.4(COL9A3):c.388G>A (p.Gly130Ser)
|
rs139401633
|
0.00096
|
NM_002451.4(MTAP):c.*1453C>T
|
rs753610558
|
0.00096
|
NM_004836.7(EIF2AK3):c.1264G>A (p.Ala422Thr)
|
rs145427892
|
0.00096
|
NM_005902.4(SMAD3):c.*2547C>T
|
rs72661161
|
0.00096
|
NM_021625.5(TRPV4):c.1913C>T (p.Pro638Leu)
|
rs35058636
|
0.00096
|
NM_001171.6(ABCC6):c.2659C>T (p.Arg887Cys)
|
rs59206042
|
0.00094
|
NM_004273.5(CHST3):c.*3571T>C
|
rs575592721
|
0.00094
|
NM_001367624.2(ZNF469):c.2699C>T (p.Pro900Leu)
|
rs273585618
|
0.00093
|
NM_001367624.2(ZNF469):c.9373C>T (p.Arg3125Cys)
|
rs543370102
|
0.00093
|
NM_002608.4(PDGFB):c.670C>T (p.Arg224Trp)
|
rs146468845
|
0.00093
|
NM_001367624.2(ZNF469):c.5548C>A (p.Pro1850Thr)
|
rs199932922
|
0.00092
|
NM_004612.4(TGFBR1):c.*4623G>C
|
rs200806851
|
0.00092
|
NM_001065.4(TNFRSF1A):c.*263C>T
|
rs201376255
|
0.00091
|
NM_001558.4(IL10RA):c.*1147C>T
|
rs527246428
|
0.00091
|
NM_015139.3(SLC35D1):c.301C>T (p.Leu101Phe)
|
rs145382776
|
0.00091
|
NM_000243.3(MEFV):c.*1008A>G
|
rs1305464681
|
0.00090
|
NM_001367624.2(ZNF469):c.1896G>A (p.Ser632=)
|
rs554795578
|
0.00090
|
NM_006949.4(STXBP2):c.822G>A (p.Ala274=)
|
rs138099253
|
0.00090
|
NM_001171.6(ABCC6):c.2306G>A (p.Arg769Lys)
|
rs57794451
|
0.00089
|
NM_173842.3(IL1RN):c.*644del
|
rs757094565
|
0.00089
|
NM_001854.4(COL11A1):c.328G>C (p.Gly110Arg)
|
rs141978499
|
0.00088
|
NM_003664.5(AP3B1):c.1198G>C (p.Ala400Pro)
|
rs150000996
|
0.00088
|
NM_000316.3(PTH1R):c.1710C>T (p.Gly570=)
|
rs112382430
|
0.00086
|
NM_000388.4(CASR):c.1631G>A (p.Arg544Gln)
|
rs115230894
|
0.00086
|
NM_001122681.2(SH3BP2):c.*3229T>G
|
rs886059374
|
0.00086
|
NM_001242.5(CD27):c.539-6T>C
|
rs202127301
|
0.00086
|
NM_015474.4(SAMHD1):c.275+8T>A
|
rs186225001
|
0.00086
|
NM_000127.3(EXT1):c.-655C>A
|
rs886062642
|
0.00084
|
NM_000071.3(CBS):c.1257G>A (p.Leu419=)
|
rs138432416
|
0.00083
|
NM_000081.4(LYST):c.3507C>T (p.Leu1169=)
|
rs74861744
|
0.00083
|
NM_000090.4(COL3A1):c.3938A>G (p.Lys1313Arg)
|
rs111840783
|
0.00083
|
NM_001083116.3(PRF1):c.1620A>G (p.Gln540=)
|
rs149776121
|
0.00083
|
NM_001558.4(IL10RA):c.884C>T (p.Pro295Leu)
|
rs56143179
|
0.00083
|
NM_001851.6(COL9A1):c.902C>T (p.Pro301Leu)
|
rs192047082
|
0.00083
|
NM_002451.4(MTAP):c.*3072G>A
|
rs768885564
|
0.00083
|
NM_001127671.2(LIFR):c.2934G>A (p.Gln978=)
|
rs148354076
|
0.00082
|
NM_004364.5(CEBPA):c.-39C>A
|
rs41434054
|
0.00082
|
NM_001122681.2(SH3BP2):c.*4161C>T
|
rs771475877
|
0.00081
|
NM_001367624.2(ZNF469):c.11425G>A (p.Glu3809Lys)
|
rs201834513
|
0.00081
|
NM_001367624.2(ZNF469):c.9676C>A (p.His3226Asn)
|
rs867530230
|
0.00081
|
NM_001844.5(COL2A1):c.969+6T>C
|
rs139163410
|
0.00081
|
NM_001199397.3(NEK1):c.2940G>A (p.Ser980=)
|
rs56252746
|
0.00080
|
NM_005475.3(SH2B3):c.1198G>A (p.Glu400Lys)
|
rs72650673
|
0.00080
|
NM_006397.3(RNASEH2A):c.758T>C (p.Ile253Thr)
|
rs145662304
|
0.00080
|
NM_012275.3(IL36RN):c.*581C>G
|
rs28938779
|
0.00080
|
NM_004836.7(EIF2AK3):c.1751G>A (p.Gly584Glu)
|
rs150314450
|
0.00079
|
NM_005529.7(HSPG2):c.2725G>A (p.Gly909Ser)
|
rs137904249
|
0.00079
|
NM_022168.4(IFIH1):c.478A>G (p.Asn160Asp)
|
rs74162075
|
0.00079
|
NM_001367624.2(ZNF469):c.7102G>A (p.Gly2368Ser)
|
rs533944505
|
0.00078
|
NM_022168.4(IFIH1):c.1066C>A (p.Pro356Thr)
|
rs150317197
|
0.00078
|
NM_024529.5(CDC73):c.*1132G>T
|
rs1017988008
|
0.00078
|
NM_000302.4(PLOD1):c.1582G>A (p.Glu528Lys)
|
rs112250644
|
0.00077
|
NM_001199138.2(NLRC4):c.478G>A (p.Ala160Thr)
|
rs113631419
|
0.00077
|
NM_018699.3(PRDM5):c.-234C>T
|
rs111704622
|
0.00077
|
NM_030777.4(SLC2A10):c.816C>G (p.Ala272=)
|
rs148058006
|
0.00077
|
NM_001127511.3(APC):c.-204A>G
|
rs554351451
|
0.00076
|
NM_001558.4(IL10RA):c.*1684G>A
|
rs143719655
|
0.00076
|
NM_001558.4(IL10RA):c.1401G>A (p.Ser467=)
|
rs150551465
|
0.00076
|
NM_022168.4(IFIH1):c.2524G>A (p.Glu842Lys)
|
rs79324540
|
0.00076
|
NM_006397.3(RNASEH2A):c.328A>C (p.Lys110Gln)
|
rs143029477
|
0.00075
|
NM_024529.5(CDC73):c.*3266A>G
|
rs532839308
|
0.00075
|
NM_003238.6(TGFB2):c.-338T>A
|
rs148765724
|
0.00074
|
NM_148919.4(PSMB8):c.*8G>A
|
rs376750959
|
0.00074
|
NM_000081.4(LYST):c.10235G>A (p.Arg3412His)
|
rs148409403
|
0.00073
|
NM_000138.5(FBN1):c.*2091G>A
|
rs575922741
|
0.00073
|
NM_001083116.3(PRF1):c.1310C>T (p.Ala437Val)
|
rs138126912
|
0.00073
|
NM_001367624.2(ZNF469):c.1483C>T (p.Pro495Ser)
|
rs202205643
|
0.00073
|
NM_001367624.2(ZNF469):c.8503G>C (p.Glu2835Gln)
|
rs200153921
|
0.00073
|
NM_020779.4(WDR35):c.853A>T (p.Ile285Phe)
|
rs200059077
|
0.00073
|
NM_199242.3(UNC13D):c.1772C>T (p.Pro591Leu)
|
rs144852879
|
0.00073
|
NM_000246.4(CIITA):c.413T>C (p.Val138Ala)
|
rs142469968
|
0.00072
|
NM_001367624.2(ZNF469):c.9919A>G (p.Thr3307Ala)
|
rs273585627
|
0.00072
|
NM_003238.6(TGFB2):c.303G>A (p.Lys101=)
|
rs147052890
|
0.00072
|
NM_004273.5(CHST3):c.1251G>C (p.Thr417=)
|
rs140411224
|
0.00072
|
NM_018699.3(PRDM5):c.-172C>T
|
rs558723351
|
0.00072
|
NM_000243.3(MEFV):c.277+6C>T
|
rs7199464
|
0.00071
|
NM_000431.4(MVK):c.*75T>G
|
rs138924471
|
0.00071
|
NM_058172.6(ANTXR2):c.*2225A>G
|
rs543254931
|
0.00071
|
NM_148919.4(PSMB8):c.701A>G (p.Tyr234Cys)
|
rs55853041
|
0.00071
|
NM_000138.5(FBN1):c.2934C>G (p.Asp978Glu)
|
rs138438849
|
0.00070
|
NM_000138.5(FBN1):c.8176C>T (p.Arg2726Trp)
|
rs61746008
|
0.00070
|
NM_001243133.2(NLRP3):c.1463G>A (p.Arg488Lys)
|
rs145268073
|
0.00070
|
NM_005902.4(SMAD3):c.*1315C>T
|
rs886051391
|
0.00070
|
NM_012275.3(IL36RN):c.363G>A (p.Leu121=)
|
rs151274071
|
0.00070
|
NM_018699.4(PRDM5):c.342A>C (p.Glu114Asp)
|
rs146228268
|
0.00070
|
NM_001558.4(IL10RA):c.1235G>A (p.Arg412Gln)
|
rs117423374
|
0.00069
|
NM_012275.3(IL36RN):c.*1849T>A
|
rs554682838
|
0.00069
|
NM_000047.3(ARSL):c.23+5G>C
|
rs200062390
|
0.00068
|
NM_001127671.2(LIFR):c.247A>G (p.Ile83Val)
|
rs61751710
|
0.00068
|
NM_001167.4(XIAP):c.769C>G (p.Pro257Ala)
|
rs138783302
|
0.00068
|
NM_001243133.2(NLRP3):c.3048A>C (p.Leu1016Phe)
|
rs143548979
|
0.00068
|
NM_001282225.2(ADA2):c.194C>T (p.Thr65Met)
|
rs61747288
|
0.00068
|
NM_001367624.2(ZNF469):c.3950A>G (p.Lys1317Arg)
|
rs772817384
|
0.00068
|
NM_001367624.2(ZNF469):c.9696G>A (p.Thr3232=)
|
rs573582117
|
0.00068
|
NM_022124.6(CDH23):c.5410C>T (p.Arg1804Trp)
|
rs376271562
|
0.00068
|
NM_000093.5(COL5A1):c.3292G>A (p.Ala1098Thr)
|
rs772521985
|
0.00067
|
NM_001171.6(ABCC6):c.3978C>T (p.Asp1326=)
|
rs57499803
|
0.00067
|
NM_001270508.2(TNFAIP3):c.1634C>T (p.Ala545Val)
|
rs142752989
|
0.00067
|
NM_199242.3(UNC13D):c.1232G>A (p.Arg411Gln)
|
rs200109035
|
0.00067
|
NM_000089.4(COL1A2):c.3313G>A (p.Gly1105Ser)
|
rs139851311
|
0.00066
|
NM_000243.3(MEFV):c.2149C>T (p.Arg717Cys)
|
rs104895192
|
0.00066
|
NM_001558.4(IL10RA):c.1072G>A (p.Asp358Asn)
|
rs78753252
|
0.00066
|
NM_004273.5(CHST3):c.*4450G>C
|
rs183731077
|
0.00066
|
NM_004273.5(CHST3):c.*469C>A
|
rs539699501
|
0.00066
|
NM_004612.4(TGFBR1):c.*4040T>A
|
rs41283640
|
0.00066
|
NM_001367624.2(ZNF469):c.*1071A>T
|
rs536887736
|
0.00065
|
NM_003242.6(TGFBR2):c.*443A>G
|
rs188599299
|
0.00065
|
NM_007194.4(CHEK2):c.-6G>A
|
rs376995740
|
0.00065
|
NM_030777.4(SLC2A10):c.765C>T (p.Ser255=)
|
rs142106322
|
0.00065
|
NM_058172.6(ANTXR2):c.*2550T>C
|
rs559781709
|
0.00065
|
NM_000302.4(PLOD1):c.804C>T (p.Thr268=)
|
rs140758113
|
0.00064
|
NM_001375808.2(LPIN2):c.*1027G>A
|
rs551503883
|
0.00064
|
NM_032193.4(RNASEH2C):c.*1594G>A
|
rs761492773
|
0.00064
|
NM_001111.5(ADAR):c.3018C>T (p.Asn1006=)
|
rs151241634
|
0.00063
|
NM_024570.4(RNASEH2B):c.455A>G (p.Asn152Ser)
|
rs146451037
|
0.00063
|
NM_025132.4(WDR19):c.1030C>G (p.His344Asp)
|
rs76599296
|
0.00063
|
NM_207122.2(EXT2):c.1760C>T (p.Thr587Met)
|
rs138495222
|
0.00063
|
NM_001844.5(COL2A1):c.3723C>T (p.Ala1241=)
|
rs200993187
|
0.00062
|
NM_004836.7(EIF2AK3):c.719G>A (p.Arg240His)
|
rs147458427
|
0.00062
|
NM_058172.6(ANTXR2):c.*5525G>A
|
rs533063623
|
0.00062
|
NM_000138.5(FBN1):c.*1341C>T
|
rs766719764
|
0.00061
|
NM_000316.3(PTH1R):c.226G>C (p.Gly76Arg)
|
rs148414587
|
0.00061
|
NM_000388.4(CASR):c.*923T>C
|
rs201230484
|
0.00061
|
NM_001243133.2(NLRP3):c.1639A>T (p.Ser547Cys)
|
rs139833874
|
0.00061
|
NM_001851.6(COL9A1):c.353G>A (p.Arg118Gln)
|
rs143848379
|
0.00061
|
NM_001122681.2(SH3BP2):c.*3175C>T
|
rs886059372
|
0.00060
|
NM_001844.5(COL2A1):c.3786C>G (p.Leu1262=)
|
rs139114389
|
0.00060
|
NM_000431.4(MVK):c.441C>T (p.Ala147=)
|
rs138342076
|
0.00059
|
NM_005373.3(MPL):c.1003G>A (p.Glu335Lys)
|
rs139770726
|
0.00059
|
NM_022124.6(CDH23):c.7823G>A (p.Arg2608His)
|
rs202052174
|
0.00059
|
NM_000302.4(PLOD1):c.785C>T (p.Thr262Ile)
|
rs147940796
|
0.00058
|
NM_001032283.3(TMPO):c.565+2368G>A
|
rs138295270
|
0.00058
|
NM_001558.4(IL10RA):c.320G>A (p.Arg107Gln)
|
rs145949718
|
0.00058
|
NM_002661.5(PLCG2):c.77C>T (p.Thr26Met)
|
rs189301790
|
0.00058
|
NM_005902.4(SMAD3):c.*1583T>G
|
rs577631492
|
0.00058
|
NM_006929.5(SKIC2):c.1020T>C (p.Val340=)
|
rs61761944
|
0.00058
|
NM_144687.3(NLRP12):c.-226A>G
|
rs547032329
|
0.00058
|
NM_000302.4(PLOD1):c.1927G>A (p.Val643Ile)
|
rs149425237
|
0.00057
|
NM_000071.3(CBS):c.215A>T (p.Lys72Ile)
|
rs192232907
|
0.00056
|
NM_000243.3(MEFV):c.*724G>A
|
rs886051968
|
0.00056
|
NM_001366385.1(CARD14):c.589G>A (p.Glu197Lys)
|
rs200790561
|
0.00056
|
NM_001367624.2(ZNF469):c.11318G>A (p.Arg3773Gln)
|
rs571622809
|
0.00056
|
NM_001370466.1(NOD2):c.-8-2174C>T
|
rs149122717
|
0.00056
|
NM_001844.5(COL2A1):c.195C>T (p.Asp65=)
|
rs202210896
|
0.00056
|
NM_024529.5(CDC73):c.-11G>A
|
rs80356643
|
0.00056
|
NM_025132.4(WDR19):c.3008A>G (p.Glu1003Gly)
|
rs201354264
|
0.00056
|
NM_030777.4(SLC2A10):c.*401C>A
|
rs142547155
|
0.00056
|
NM_054027.6(ANKH):c.*6012T>C
|
rs576051028
|
0.00056
|
NM_001065.4(TNFRSF1A):c.-75C>T
|
rs55785527
|
0.00055
|
NM_001844.5(COL2A1):c.1366-13C>A
|
rs200984998
|
0.00055
|
NM_001972.4(ELANE):c.778C>A (p.Pro260Thr)
|
rs143579306
|
0.00055
|
NM_003977.4(AIP):c.807C>T (p.Phe269=)
|
rs139407567
|
0.00055
|
NM_000138.5(FBN1):c.3422C>T (p.Pro1141Leu)
|
rs2228241
|
0.00054
|
NM_000243.3(MEFV):c.*1002G>C
|
rs1316887692
|
0.00054
|
NM_000246.4(CIITA):c.*125C>T
|
rs548867769
|
0.00054
|
NM_001122681.2(SH3BP2):c.*6399_*6400insA
|
rs1553809321
|
0.00054
|
NM_003977.4(AIP):c.382C>T (p.Arg128Cys)
|
rs140530307
|
0.00054
|
NM_006949.4(STXBP2):c.1569G>A (p.Lys523=)
|
rs148868283
|
0.00054
|
NM_001282225.2(ADA2):c.1385T>C (p.Ile462Thr)
|
rs61744537
|
0.00053
|
NM_001844.5(COL2A1):c.1300C>T (p.Pro434Ser)
|
rs140985224
|
0.00053
|
NM_002451.4(MTAP):c.*3052C>T
|
rs182636316
|
0.00053
|
NM_004273.5(CHST3):c.-51G>A
|
rs202050418
|
0.00053
|
NM_024570.4(RNASEH2B):c.523G>A (p.Val175Met)
|
rs141049110
|
0.00053
|
NM_032193.4(RNASEH2C):c.*456G>A
|
rs561937926
|
0.00053
|
NM_000081.4(LYST):c.8806G>A (p.Val2936Ile)
|
rs2753327
|
0.00052
|
NM_000246.4(CIITA):c.*465G>A
|
rs190253856
|
0.00052
|
NM_000288.4(PEX7):c.128C>T (p.Ala43Val)
|
rs780369944
|
0.00052
|
NM_001367624.2(ZNF469):c.11203A>G (p.Ser3735Gly)
|
rs536054902
|
0.00052
|
NM_001367624.2(ZNF469):c.9079C>T (p.Arg3027Cys)
|
rs376513000
|
0.00052
|
NM_054027.6(ANKH):c.*1646A>G
|
rs564365629
|
0.00052
|
NM_058172.6(ANTXR2):c.1347+9C>T
|
rs112023055
|
0.00052
|
NM_000138.5(FBN1):c.6038-37G>A
|
rs202137580
|
0.00051
|
NM_001282225.2(ADA2):c.1386T>C (p.Ile462=)
|
rs373797039
|
0.00051
|
NM_001367624.2(ZNF469):c.8344C>T (p.His2782Tyr)
|
rs553227769
|
0.00051
|
NM_001370466.1(NOD2):c.850C>T (p.Arg284Trp)
|
rs104895427
|
0.00051
|
NM_001852.4(COL9A2):c.*67A>G
|
rs553963794
|
0.00051
|
NM_001852.4(COL9A2):c.458C>T (p.Pro153Leu)
|
rs77937237
|
0.00051
|
NM_005529.7(HSPG2):c.1557G>A (p.Leu519=)
|
rs149710901
|
0.00051
|
NM_024570.4(RNASEH2B):c.-228C>A
|
rs577725827
|
0.00051
|
NM_033629.6(TREX1):c.679G>A (p.Gly227Ser)
|
rs113107733
|
0.00051
|
NM_199242.3(UNC13D):c.3160A>G (p.Ile1054Val)
|
rs150952348
|
0.00051
|
NM_000246.4(CIITA):c.931A>G (p.Met311Val)
|
rs140139362
|
0.00050
|
NM_001167.4(XIAP):c.1408A>T (p.Thr470Ser)
|
rs143165174
|
0.00050
|
NM_001367624.2(ZNF469):c.7716G>A (p.Gln2572=)
|
rs775513309
|
0.00050
|
NM_004239.4(TRIP11):c.5537C>T (p.Thr1846Ile)
|
rs141259390
|
0.00050
|
NM_004752.4(GCM2):c.1181A>C (p.Tyr394Ser)
|
rs142287570
|
0.00050
|
NM_000081.4(LYST):c.3083C>G (p.Ser1028Cys)
|
rs150636017
|
0.00049
|
NM_000138.5(FBN1):c.7346A>G (p.Asn2449Ser)
|
rs146166400
|
0.00049
|
NM_000246.4(CIITA):c.286G>A (p.Ala96Thr)
|
rs149253747
|
0.00049
|
NM_001065.4(TNFRSF1A):c.*374T>G
|
rs200167144
|
0.00049
|
NM_001243133.2(NLRP3):c.2176A>G (p.Ser726Gly)
|
rs147946775
|
0.00049
|
NM_001366385.1(CARD14):c.1134C>G (p.Ser378Arg)
|
rs150536049
|
0.00049
|
NM_001367624.2(ZNF469):c.5577G>A (p.Pro1859=)
|
rs764487066
|
0.00049
|
NM_003978.5(PSTPIP1):c.1213C>T (p.Arg405Cys)
|
rs201253322
|
0.00049
|
NM_000127.3(EXT1):c.-731G>A
|
rs886062645
|
0.00048
|
NM_000246.4(CIITA):c.2651G>A (p.Arg884His)
|
rs374443915
|
0.00048
|
NM_001375808.2(LPIN2):c.517G>A (p.Ala173Thr)
|
rs140609636
|
0.00048
|
NM_001611.5(ACP5):c.805C>T (p.Arg269Trp)
|
rs199986980
|
0.00048
|
NM_004273.5(CHST3):c.348G>T (p.Glu116Asp)
|
rs144885813
|
0.00048
|
NM_058172.6(ANTXR2):c.*3602A>G
|
rs574894829
|
0.00048
|
NM_058172.6(ANTXR2):c.*4058A>T
|
rs75657044
|
0.00048
|
NM_000081.4(LYST):c.9017A>G (p.Lys3006Arg)
|
rs140934482
|
0.00047
|
NM_000243.3(MEFV):c.1151T>C (p.Leu384Pro)
|
rs139313647
|
0.00047
|
NM_001375808.2(LPIN2):c.2443-9C>T
|
rs191749331
|
0.00047
|
NM_001457.4(FLNB):c.4978G>A (p.Ala1660Thr)
|
rs142114129
|
0.00047
|
NM_001558.4(IL10RA):c.*1375C>A
|
rs141609122
|
0.00047
|
NM_001611.5(ACP5):c.544C>T (p.Arg182Cys)
|
rs202169550
|
0.00047
|
NM_003238.6(TGFB2):c.356C>T (p.Pro119Leu)
|
rs149533093
|
0.00047
|
NM_003664.5(AP3B1):c.822C>T (p.Tyr274=)
|
rs112652327
|
0.00047
|
NM_005188.4(CBL):c.*615C>T
|
rs769151797
|
0.00047
|
NM_033629.6(TREX1):c.739G>C (p.Ala247Pro)
|
rs112741962
|
0.00047
|
NM_000628.5(IL10RB):c.174-14T>G
|
rs200472684
|
0.00046
|
NM_001243133.2(NLRP3):c.-460G>A
|
rs199475727
|
0.00046
|
NM_001375808.2(LPIN2):c.*2417C>T
|
rs760089028
|
0.00046
|
NM_001457.4(FLNB):c.4495G>A (p.Asp1499Asn)
|
rs150445941
|
0.00046
|
NM_001558.4(IL10RA):c.*203G>T
|
rs550348490
|
0.00046
|
NM_001844.5(COL2A1):c.3736G>A (p.Gly1246Ser)
|
rs147569641
|
0.00046
|
NM_001844.5(COL2A1):c.4074+12G>T
|
rs201312340
|
0.00046
|
NM_001844.5(COL2A1):c.4350C>T (p.Ile1450=)
|
rs137948104
|
0.00046
|
NM_207122.2(EXT2):c.1087G>A (p.Val363Met)
|
rs138943091
|
0.00046
|
NM_000222.3(KIT):c.200C>G (p.Thr67Ser)
|
rs144933028
|
0.00045
|
NM_000628.5(IL10RB):c.-74C>A
|
rs56368587
|
0.00045
|
NM_001083116.3(PRF1):c.286C>A (p.Arg96=)
|
rs144024245
|
0.00045
|
NM_001243133.2(NLRP3):c.1245C>T (p.Ile415=)
|
rs139852370
|
0.00045
|
NM_001367624.2(ZNF469):c.3321G>A (p.Arg1107=)
|
rs763826959
|
0.00045
|
NM_001367624.2(ZNF469):c.4216G>T (p.Asp1406Tyr)
|
rs557997233
|
0.00045
|
NM_001375808.2(LPIN2):c.*520T>C
|
rs576721761
|
0.00045
|
NM_001375808.2(LPIN2):c.2568C>T (p.Leu856=)
|
rs149862905
|
0.00045
|
NM_005546.4(ITK):c.1741C>T (p.Arg581Trp)
|
rs34482255
|
0.00045
|
NM_000388.4(CASR):c.1733-9A>G
|
rs190731787
|
0.00044
|
NM_001083116.3(PRF1):c.368G>A (p.Arg123His)
|
rs139336186
|
0.00044
|
NM_001084.5(PLOD3):c.1466C>T (p.Pro489Leu)
|
rs145508748
|
0.00044
|
NM_001171.6(ABCC6):c.2359G>A (p.Val787Ile)
|
rs72653792
|
0.00044
|
NM_001375808.2(LPIN2):c.*1742A>G
|
rs551448975
|
0.00044
|
NM_001558.4(IL10RA):c.1234C>T (p.Arg412Trp)
|
rs143538561
|
0.00044
|
NM_002451.4(MTAP):c.*2651G>A
|
rs569725867
|
0.00044
|
NM_144687.4(NLRP12):c.850C>T (p.Arg284Ter)
|
rs104895564
|
0.00044
|
NM_207122.2(EXT2):c.1022C>T (p.Pro341Leu)
|
rs141035971
|
0.00044
|
NM_001083116.3(PRF1):c.82C>T (p.Arg28Cys)
|
rs141660796
|
0.00043
|
NM_001270508.2(TNFAIP3):c.2231G>A (p.Gly744Asp)
|
rs150355046
|
0.00043
|
NM_001367624.2(ZNF469):c.4909C>T (p.Arg1637Trp)
|
rs575820215
|
0.00043
|
NM_001457.4(FLNB):c.1196A>G (p.Lys399Arg)
|
rs145673747
|
0.00043
|
NM_001558.4(IL10RA):c.*854C>G
|
rs535662153
|
0.00043
|
NM_004364.5(CEBPA):c.667G>A (p.Gly223Ser)
|
rs535980233
|
0.00043
|
NM_004752.4(GCM2):c.319G>A (p.Asp107Asn)
|
rs61741855
|
0.00043
|
NM_005529.7(HSPG2):c.6808G>A (p.Gly2270Arg)
|
rs145091234
|
0.00043
|
NM_022124.6(CDH23):c.3022G>A (p.Val1008Met)
|
rs201053044
|
0.00043
|
NM_024570.4(RNASEH2B):c.756A>G (p.Ser252=)
|
rs200721645
|
0.00043
|
NM_024570.4(RNASEH2B):c.787A>G (p.Thr263Ala)
|
rs150363383
|
0.00043
|
NM_001065.4(TNFRSF1A):c.*252A>G
|
rs45563431
|
0.00042
|
NM_001111.5(ADAR):c.*2586C>T
|
rs559398617
|
0.00042
|
NM_023110.3(FGFR1):c.899T>C (p.Ile300Thr)
|
rs121909633
|
0.00042
|
NM_024529.5(CDC73):c.*453A>C
|
rs547363180
|
0.00042
|
NM_001282225.2(ADA2):c.1467G>C (p.Glu489Asp)
|
rs61738625
|
0.00041
|
NM_001367624.2(ZNF469):c.10762G>A (p.Gly3588Arg)
|
rs750481489
|
0.00041
|
NM_001370466.1(NOD2):c.1693G>A (p.Val565Met)
|
rs148683734
|
0.00041
|
NM_001370466.1(NOD2):c.258C>T (p.Asp86=)
|
rs138889062
|
0.00041
|
NM_001852.4(COL9A2):c.*370G>A
|
rs548912125
|
0.00041
|
NM_002296.4(LBR):c.312C>T (p.Ala104=)
|
rs146953852
|
0.00041
|
NM_005546.4(ITK):c.1455C>T (p.Ala485=)
|
rs201568204
|
0.00041
|
NM_005902.4(SMAD3):c.*2028T>C
|
rs549152312
|
0.00041
|
NM_006397.3(RNASEH2A):c.374T>C (p.Ile125Thr)
|
rs150008398
|
0.00041
|
NM_012275.3(IL36RN):c.136C>T (p.Pro46Ser)
|
rs145099228
|
0.00041
|
NM_015474.4(SAMHD1):c.1593G>C (p.Arg531Ser)
|
rs145735112
|
0.00041
|
NM_031229.4(RBCK1):c.173G>C (p.Trp58Ser)
|
rs143804674
|
0.00041
|
NM_054027.6(ANKH):c.*1626G>A
|
rs760609731
|
0.00041
|
NM_144687.4(NLRP12):c.298C>T (p.Pro100Ser)
|
rs200813801
|
0.00041
|
NM_001111.5(ADAR):c.*1751T>G
|
rs748291356
|
0.00040
|
NM_001754.5(RUNX1):c.1269C>T (p.Arg423=)
|
rs544247912
|
0.00040
|
NM_032193.4(RNASEH2C):c.*363C>T
|
rs547082810
|
0.00040
|
NM_144687.4(NLRP12):c.2384G>A (p.Arg795Gln)
|
rs373954247
|
0.00040
|
NM_199242.3(UNC13D):c.1228A>C (p.Ile410Leu)
|
rs117221419
|
0.00040
|
NM_000388.4(CASR):c.*1201C>T
|
rs886057837
|
0.00039
|
NM_001999.4(FBN2):c.-338G>A
|
rs776638871
|
0.00039
|
NM_002381.5(MATN3):c.330C>T (p.Ile110=)
|
rs201755444
|
0.00039
|
NM_003238.6(TGFB2):c.*2053G>A
|
rs530767727
|
0.00039
|
NM_003982.4(SLC7A7):c.999G>A (p.Arg333=)
|
rs146720775
|
0.00039
|
NM_005373.3(MPL):c.1102G>T (p.Val368Leu)
|
rs149810307
|
0.00039
|
NM_014639.4(SKIC3):c.4348G>T (p.Ala1450Ser)
|
rs143227096
|
0.00039
|
NM_015474.4(SAMHD1):c.1832G>A (p.Arg611Gln)
|
rs150713148
|
0.00039
|
NM_015474.4(SAMHD1):c.462C>T (p.Tyr154=)
|
rs149267802
|
0.00039
|
NM_001243133.2(NLRP3):c.-710C>T
|
rs199723383
|
0.00038
|
NM_001375808.2(LPIN2):c.*1827G>A
|
rs886053747
|
0.00038
|
NM_001375808.2(LPIN2):c.446C>T (p.Pro149Leu)
|
rs147615538
|
0.00038
|
NM_001844.5(COL2A1):c.2819G>A (p.Arg940Gln)
|
rs533540496
|
0.00038
|
NM_004273.5(CHST3):c.1003G>A (p.Glu335Lys)
|
rs150466838
|
0.00038
|
NM_006397.3(RNASEH2A):c.*16G>T
|
rs199696470
|
0.00038
|
NM_015474.4(SAMHD1):c.-31T>C
|
rs142162198
|
0.00038
|
NM_015474.4(SAMHD1):c.-39C>A
|
rs368233437
|
0.00038
|
NM_022124.6(CDH23):c.7049C>T (p.Ser2350Leu)
|
rs371522435
|
0.00038
|
NM_054027.6(ANKH):c.*4103G>A
|
rs181397772
|
0.00038
|
NM_080628.3(TLDC2):c.*18-25A>G
|
rs147220022
|
0.00038
|
NM_198282.4(STING1):c.760-1_760del
|
rs746371007
|
0.00038
|
NM_198282.4(STING1):c.760-3dup
|
rs770249736
|
0.00038
|
NM_198282.4(STING1):c.762_764del (p.Gly255del)
|
rs781602496
|
0.00038
|
NM_198282.4(STING1):c.766A>T (p.Thr256Ser)
|
rs773415324
|
0.00038
|
NM_000127.3(EXT1):c.-358T>C
|
rs886062639
|
0.00037
|
NM_000388.4(CASR):c.2064C>T (p.Phe688=)
|
rs150869744
|
0.00037
|
NM_000393.5(COL5A2):c.1976C>T (p.Pro659Leu)
|
rs145404046
|
0.00037
|
NM_001032283.3(TMPO):c.565+1848G>A
|
rs34301677
|
0.00037
|
NM_001171.6(ABCC6):c.2848G>A (p.Ala950Thr)
|
rs72657689
|
0.00037
|
NM_003977.4(AIP):c.26G>A (p.Arg9Gln)
|
rs139459091
|
0.00037
|
NM_022124.6(CDH23):c.9569C>T (p.Ala3190Val)
|
rs111033536
|
0.00037
|
NM_144687.3(NLRP12):c.*395C>T
|
rs886054604
|
0.00037
|
NM_000435.3(NOTCH3):c.*306C>T
|
rs181930934
|
0.00036
|
NM_001065.4(TNFRSF1A):c.369C>T (p.Thr123=)
|
rs104895260
|
0.00036
|
NM_001171.6(ABCC6):c.1703T>C (p.Phe568Ser)
|
rs66864704
|
0.00036
|
NM_001367624.2(ZNF469):c.4456G>A (p.Asp1486Asn)
|
rs373777402
|
0.00036
|
NM_002474.3(MYH11):c.5470G>A (p.Ala1824Thr)
|
rs147710374
|
0.00036
|
NM_002661.5(PLCG2):c.707C>T (p.Pro236Leu)
|
rs199760975
|
0.00036
|
NM_004612.4(TGFBR1):c.1433A>G (p.Asn478Ser)
|
rs141259922
|
0.00036
|
NM_004972.4(JAK2):c.1849G>T (p.Val617Phe)
|
rs77375493
|
0.00036
|
NM_005529.7(HSPG2):c.5206G>A (p.Val1736Ile)
|
rs200506675
|
0.00036
|
NM_007194.4(CHEK2):c.1451C>T (p.Pro484Leu)
|
rs564605612
|
0.00036
|
NM_018699.4(PRDM5):c.1189-14T>C
|
rs375296023
|
0.00036
|
NM_024529.5(CDC73):c.*1761T>C
|
rs528066706
|
0.00036
|
NM_054027.6(ANKH):c.*3554C>T
|
rs185233583
|
0.00036
|
NM_054027.6(ANKH):c.*4958T>C
|
rs187771198
|
0.00036
|
NM_138348.6(OTULIN):c.1052G>A (p.Ser351Asn)
|
rs201549255
|
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_001844.5(COL2A1):c.4116C>T (p.Asn1372=)
|
rs150237416
|
0.00035
|
NM_001852.4(COL9A2):c.*443C>T
|
rs531591616
|
0.00035
|
NM_002168.4(IDH2):c.673G>A (p.Asp225Asn)
|
rs142816010
|
0.00035
|
NM_004273.5(CHST3):c.*4049C>A
|
rs192320139
|
0.00035
|
NM_004273.5(CHST3):c.*4495G>A
|
rs730721
|
0.00035
|
NM_004273.5(CHST3):c.*4865C>T
|
rs140500823
|
0.00035
|
NM_004612.4(TGFBR1):c.*1772A>C
|
rs201191009
|
0.00035
|
NM_004612.4(TGFBR1):c.*4366A>G
|
rs199892683
|
0.00035
|
NM_022124.6(CDH23):c.7468G>A (p.Glu2490Lys)
|
rs41281336
|
0.00035
|
NM_144687.4(NLRP12):c.-56G>A
|
rs112227599
|
0.00035
|
NM_000138.5(FBN1):c.4270C>G (p.Pro1424Ala)
|
rs201273753
|
0.00034
|
NM_000243.3(MEFV):c.1344A>C (p.Ala448=)
|
rs143337771
|
0.00034
|
NM_000243.3(MEFV):c.2292G>T (p.Gly764=)
|
rs142352887
|
0.00034
|
NM_000302.4(PLOD1):c.608G>A (p.Arg203His)
|
rs145482271
|
0.00034
|
NM_000431.4(MVK):c.371+13T>C
|
rs201201471
|
0.00034
|
NM_001270508.2(TNFAIP3):c.2090G>A (p.Arg697Lys)
|
rs201429571
|
0.00034
|
NM_001367624.2(ZNF469):c.4952A>G (p.Gln1651Arg)
|
rs773925755
|
0.00034
|
NM_001367624.2(ZNF469):c.8996G>T (p.Gly2999Val)
|
rs273585625
|
0.00034
|
NM_001375808.2(LPIN2):c.2671G>A (p.Asp891Asn)
|
rs200648652
|
0.00034
|
NM_001457.4(FLNB):c.6515G>A (p.Arg2172His)
|
rs139846706
|
0.00034
|
NM_001999.4(FBN2):c.4472-11A>T
|
rs528062851
|
0.00034
|
NM_003183.6(ADAM17):c.1480A>G (p.Met494Val)
|
rs1038962906
|
0.00034
|
NM_003242.6(TGFBR2):c.-193G>A
|
rs886058301
|
0.00034
|
NM_003978.5(PSTPIP1):c.418-6C>A
|
rs200018722
|
0.00034
|
NM_004612.4(TGFBR1):c.*1240G>A
|
rs200689459
|
0.00034
|
NM_004612.4(TGFBR1):c.*311G>A
|
rs200804500
|
0.00034
|
NM_007194.4(CHEK2):c.1312G>T (p.Asp438Tyr)
|
rs200050883
|
0.00034
|
NM_012275.3(IL36RN):c.350C>T (p.Pro117Leu)
|
rs141341649
|
0.00034
|
NM_015474.4(SAMHD1):c.768A>G (p.Gln256=)
|
rs140804613
|
0.00034
|
NM_015922.3(NSDHL):c.649G>A (p.Glu217Lys)
|
rs138492835
|
0.00034
|
NM_025132.4(WDR19):c.3249T>C (p.Asp1083=)
|
rs371128500
|
0.00034
|
NM_030777.4(SLC2A10):c.*1758A>C
|
rs529567587
|
0.00034
|
NM_031229.4(RBCK1):c.550G>A (p.Gly184Arg)
|
rs147407444
|
0.00034
|
NM_033629.6(TREX1):c.183G>A (p.Pro61=)
|
rs55852466
|
0.00034
|
NM_207122.2(EXT2):c.*1153A>T
|
rs185285766
|
0.00034
|
NM_000302.4(PLOD1):c.1428G>A (p.Lys476=)
|
rs139869965
|
0.00033
|
NM_001375808.2(LPIN2):c.*2605G>A
|
rs559796642
|
0.00033
|
NM_001375808.2(LPIN2):c.*666C>T
|
rs186189096
|
0.00033
|
NM_003764.4(STX11):c.589G>A (p.Val197Met)
|
rs141499372
|
0.00033
|
NM_173842.3(IL1RN):c.*119C>T
|
rs377302236
|
0.00033
|
NM_000089.4(COL1A2):c.2425C>T (p.Pro809Ser)
|
rs145355907
|
0.00032
|
NM_000243.3(MEFV):c.926C>T (p.Thr309Met)
|
rs104895155
|
0.00032
|
NM_000302.4(PLOD1):c.52G>A (p.Ala18Thr)
|
rs373165011
|
0.00032
|
NM_000431.4(MVK):c.*468C>T
|
rs768794506
|
0.00032
|
NM_001367624.2(ZNF469):c.7265C>A (p.Ser2422Tyr)
|
rs201540905
|
0.00032
|
NM_001370466.1(NOD2):c.-8-2297C>T
|
rs188341692
|
0.00032
|
NM_001457.4(FLNB):c.4061+4G>A
|
rs370061963
|
0.00032
|
NM_001999.4(FBN2):c.7012+6C>T
|
rs749376421
|
0.00032
|
NM_004371.4(COPA):c.2531G>A (p.Gly844Asp)
|
rs143115096
|
0.00032
|
NM_173842.3(IL1RN):c.*382C>T
|
rs45566534
|
0.00032
|
NM_198282.4(STING1):c.784G>A (p.Ala262Thr)
|
rs140038439
|
0.00032
|
NM_000127.3(EXT1):c.*151T>C
|
rs751063786
|
0.00031
|
NM_001013693.3(LDLRAD2):c.*1278C>T
|
rs376645617
|
0.00031
|
NM_001366385.1(CARD14):c.1805C>T (p.Ser602Leu)
|
rs201285077
|
0.00031
|
NM_001366385.1(CARD14):c.1829G>A (p.Arg610His)
|
rs372001018
|
0.00031
|
NM_001367624.2(ZNF469):c.4227G>A (p.Pro1409=)
|
rs371897217
|
0.00031
|
NM_003978.5(PSTPIP1):c.*145C>T
|
rs965236443
|
0.00031
|
NM_004364.5(CEBPA):c.724G>A (p.Gly242Ser)
|
rs530569305
|
0.00031
|
NM_004612.4(TGFBR1):c.*3779C>T
|
rs201887512
|
0.00031
|
NM_005529.7(HSPG2):c.83C>T (p.Ala28Val)
|
rs754643779
|
0.00031
|
NM_022124.6(CDH23):c.10021C>T (p.Arg3341Cys)
|
rs370074117
|
0.00031
|
NM_031229.4(RBCK1):c.703G>A (p.Glu235Lys)
|
rs201030033
|
0.00031
|
NM_031229.4(RBCK1):c.998C>T (p.Ser333Leu)
|
rs143194967
|
0.00031
|
NM_080680.3(COL11A2):c.2555G>A (p.Arg852Gln)
|
rs147927477
|
0.00031
|
NM_183235.3(RAB27A):c.418C>G (p.Gln140Glu)
|
rs150463407
|
0.00031
|
NM_207122.2(EXT2):c.1912G>A (p.Val638Ile)
|
rs145024832
|
0.00031
|
NM_000138.5(FBN1):c.4640C>T (p.Thr1547Ile)
|
rs183306990
|
0.00030
|
NM_001171.6(ABCC6):c.1108A>G (p.Asn370Asp)
|
rs72653760
|
0.00030
|
NM_001199138.2(NLRC4):c.598G>A (p.Val200Ile)
|
rs767733551
|
0.00030
|
NM_001851.6(COL9A1):c.876+2dup
|
rs672601329
|
0.00030
|
NM_018699.4(PRDM5):c.1633T>C (p.Tyr545His)
|
rs142515463
|
0.00030
|
NM_199242.3(UNC13D):c.3033C>T (p.Ala1011=)
|
rs144730861
|
0.00030
|
NM_000081.4(LYST):c.2963G>A (p.Arg988Gln)
|
rs150953050
|
0.00029
|
NM_000127.3(EXT1):c.-113G>C
|
rs533303304
|
0.00029
|
NM_000138.5(FBN1):c.*1720C>T
|
rs557301792
|
0.00029
|
NM_000138.5(FBN1):c.3058A>G (p.Thr1020Ala)
|
rs111801777
|
0.00029
|
NM_000138.5(FBN1):c.4750G>A (p.Glu1584Lys)
|
rs148888513
|
0.00029
|
NM_000243.3(MEFV):c.1827C>G (p.Pro609=)
|
rs104895135
|
0.00029
|
NM_000243.3(MEFV):c.231C>A (p.Ile77=)
|
rs139899201
|
0.00029
|
NM_000246.4(CIITA):c.3344G>A (p.Ser1115Asn)
|
rs138790505
|
0.00029
|
NM_000393.5(COL5A2):c.2291C>G (p.Pro764Arg)
|
rs150260969
|
0.00029
|
NM_001127671.2(LIFR):c.46G>A (p.Asp16Asn)
|
rs61751713
|
0.00029
|
NM_001243133.2(NLRP3):c.404G>A (p.Arg135His)
|
rs138946894
|
0.00029
|
NM_001367624.2(ZNF469):c.4376T>G (p.Leu1459Arg)
|
rs559625962
|
0.00029
|
NM_001370466.1(NOD2):c.*462C>A
|
rs562972090
|
0.00029
|
NM_001375808.2(LPIN2):c.*1021G>A
|
rs886053751
|
0.00029
|
NM_001375808.2(LPIN2):c.*3280C>T
|
rs751266426
|
0.00029
|
NM_001999.4(FBN2):c.4454A>G (p.Asp1485Gly)
|
rs199665922
|
0.00029
|
NM_001999.4(FBN2):c.6946A>T (p.Ile2316Phe)
|
rs201220519
|
0.00029
|
NM_003238.6(TGFB2):c.*2496A>G
|
rs745522168
|
0.00029
|
NM_003238.6(TGFB2):c.-96C>A
|
rs1004111898
|
0.00029
|
NM_004364.5(CEBPA):c.364G>C (p.Gly122Arg)
|
rs1013724730
|
0.00029
|
NM_005188.3(CBL):c.-122C>T
|
rs886047765
|
0.00029
|
NM_024529.5(CDC73):c.*1787A>G
|
rs747621423
|
0.00029
|
NM_024570.4(RNASEH2B):c.868G>A (p.Asp290Asn)
|
rs201190805
|
0.00029
|
NM_032193.4(RNASEH2C):c.*1737C>T
|
rs886048487
|
0.00029
|
NM_054027.6(ANKH):c.*405G>A
|
rs557668196
|
0.00029
|
NM_058172.6(ANTXR2):c.*703C>T
|
rs745896907
|
0.00029
|
NM_148919.4(PSMB8):c.*6G>C
|
rs371747700
|
0.00029
|
NM_199242.3(UNC13D):c.972C>T (p.Asp324=)
|
rs368990813
|
0.00029
|
NM_000138.5(FBN1):c.7072G>A (p.Val2358Ile)
|
rs140537304
|
0.00028
|
NM_001065.4(TNFRSF1A):c.*64T>C
|
rs200188649
|
0.00028
|
NM_001171.6(ABCC6):c.496C>T (p.Arg166Cys)
|
rs201766106
|
0.00028
|
NM_001367624.2(ZNF469):c.3326C>T (p.Pro1109Leu)
|
rs562264117
|
0.00028
|
NM_005902.4(SMAD3):c.*2046T>C
|
rs761162475
|
0.00028
|
NM_018699.4(PRDM5):c.1031-15T>C
|
rs201474353
|
0.00028
|
NM_000138.5(FBN1):c.-136G>C
|
rs879283668
|
0.00027
|
NM_001083116.3(PRF1):c.1070G>A (p.Arg357Gln)
|
rs140787739
|
0.00027
|
NM_001171.6(ABCC6):c.1990C>T (p.Pro664Ser)
|
rs59002125
|
0.00027
|
NM_001366385.1(CARD14):c.16C>T (p.Arg6Cys)
|
rs559363898
|
0.00027
|
NM_001366385.1(CARD14):c.536G>A (p.Arg179His)
|
rs199517469
|
0.00027
|
NM_001375808.2(LPIN2):c.*167C>T
|
rs533979693
|
0.00027
|
NM_001375808.2(LPIN2):c.*2391G>A
|
rs536036852
|
0.00027
|
NM_003664.5(AP3B1):c.303C>T (p.Tyr101=)
|
rs115747826
|
0.00027
|
NM_003978.5(PSTPIP1):c.882G>A (p.Pro294=)
|
rs200796501
|
0.00027
|
NM_144687.4(NLRP12):c.779C>T (p.Thr260Met)
|
rs150280940
|
0.00027
|
NM_000077.5(CDKN2A):c.318G>A (p.Val106=)
|
rs199888003
|
0.00026
|
NM_000081.4(LYST):c.6487G>A (p.Ala2163Thr)
|
rs201513511
|
0.00026
|
NM_000112.4(SLC26A2):c.1081G>A (p.Ala361Thr)
|
rs139051143
|
0.00026
|
NM_000138.5(FBN1):c.*1949T>C
|
rs534577080
|
0.00026
|
NM_000138.5(FBN1):c.539-15del
|
rs193922211
|
0.00026
|
NM_000243.3(MEFV):c.*403A>C
|
rs766365739
|
0.00026
|
NM_001102564.3(IFT43):c.201C>T (p.Ser67=)
|
rs140127543
|
0.00026
|
NM_001199397.3(NEK1):c.3583+8A>C
|
rs192372022
|
0.00026
|
NM_001243133.2(NLRP3):c.-686C>T
|
rs201896158
|
0.00026
|
NM_001370466.1(NOD2):c.*382C>T
|
rs535063121
|
0.00026
|
NM_001370466.1(NOD2):c.662T>G (p.Leu221Arg)
|
rs104895423
|
0.00026
|
NM_001375808.2(LPIN2):c.*1443G>A
|
rs532711041
|
0.00026
|
NM_001375808.2(LPIN2):c.*833G>A
|
rs540627141
|
0.00026
|
NM_001375808.2(LPIN2):c.-10+1187C>T
|
rs765741319
|
0.00026
|
NM_001375808.2(LPIN2):c.516C>T (p.Ala172=)
|
rs150312425
|
0.00026
|
NM_001999.4(FBN2):c.1850-9C>T
|
rs199937209
|
0.00026
|
NM_002661.5(PLCG2):c.2260G>C (p.Asp754His)
|
rs190001915
|
0.00026
|
NM_003978.5(PSTPIP1):c.1208G>A (p.Gly403Glu)
|
rs201572812
|
0.00026
|
NM_015932.6(POMP):c.91C>T (p.Leu31Phe)
|
rs138472024
|
0.00026
|
NM_022124.6(CDH23):c.3986G>A (p.Gly1329Asp)
|
rs201877610
|
0.00026
|
NM_022124.6(CDH23):c.4621G>A (p.Val1541Met)
|
rs565657378
|
0.00026
|
NM_030777.4(SLC2A10):c.931G>A (p.Val311Ile)
|
rs139932041
|
0.00026
|
NM_000302.4(PLOD1):c.1427A>G (p.Lys476Arg)
|
rs576907642
|
0.00025
|
NM_000431.4(MVK):c.876C>T (p.Leu292=)
|
rs370301290
|
0.00025
|
NM_000628.5(IL10RB):c.718G>A (p.Gly240Ser)
|
rs777514296
|
0.00025
|
NM_001122681.2(SH3BP2):c.585G>A (p.Glu195=)
|
rs200156713
|
0.00025
|
NM_001243133.2(NLRP3):c.638A>G (p.His213Arg)
|
rs150396172
|
0.00025
|
NM_001243133.2(NLRP3):c.937A>G (p.Ile313Val)
|
rs180177501
|
0.00025
|
NM_001366385.1(CARD14):c.2884C>T (p.Arg962Trp)
|
rs768891477
|
0.00025
|
NM_001375808.2(LPIN2):c.*477C>T
|
rs140430664
|
0.00025
|
NM_001375808.2(LPIN2):c.1133C>T (p.Pro378Leu)
|
rs146067222
|
0.00025
|
NM_001375808.2(LPIN2):c.1781C>T (p.Pro594Leu)
|
rs139826951
|
0.00025
|
NM_001375808.2(LPIN2):c.1783G>C (p.Ala595Pro)
|
rs373929015
|
0.00025
|
NM_001375808.2(LPIN2):c.2610C>T (p.Ser870=)
|
rs145412418
|
0.00025
|
NM_001375808.2(LPIN2):c.2625G>A (p.Pro875=)
|
rs187572602
|
0.00025
|
NM_001851.6(COL9A1):c.1634G>A (p.Arg545His)
|
rs145698301
|
0.00025
|
NM_001852.4(COL9A2):c.1400A>G (p.Gln467Arg)
|
rs373264436
|
0.00025
|
NM_002661.5(PLCG2):c.1160A>C (p.Gln387Pro)
|
rs201654184
|
0.00025
|
NM_004273.5(CHST3):c.*4162A>G
|
rs551591119
|
0.00025
|
NM_005529.7(HSPG2):c.5297C>T (p.Ala1766Val)
|
rs139794766
|
0.00025
|
NM_005902.4(SMAD3):c.207-10G>A
|
rs201912204
|
0.00025
|
NM_022124.6(CDH23):c.3118G>T (p.Asp1040Tyr)
|
rs200177873
|
0.00025
|
NM_173842.3(IL1RN):c.272G>T (p.Cys91Phe)
|
rs201638660
|
0.00025
|
NM_198282.4(STING1):c.289G>A (p.Ala97Thr)
|
rs181566154
|
0.00025
|
NM_000127.3(EXT1):c.1066G>A (p.Val356Ile)
|
rs61753260
|
0.00024
|
NM_000138.5(FBN1):c.*1706C>A
|
rs770825180
|
0.00024
|
NM_000243.3(MEFV):c.1677C>T (p.Leu559=)
|
rs144672997
|
0.00024
|
NM_000435.3(NOTCH3):c.2183G>A (p.Arg728His)
|
rs144935367
|
0.00024
|
NM_001122681.2(SH3BP2):c.1243C>T (p.Arg415Ter)
|
rs141262371
|
0.00024
|
NM_001370466.1(NOD2):c.-8-2185C>T
|
rs144993105
|
0.00024
|
NM_001370466.1(NOD2):c.1214C>T (p.Ala405Val)
|
rs2076754
|
0.00024
|
NM_001375808.2(LPIN2):c.1168+6C>T
|
rs200130790
|
0.00024
|
NM_001558.4(IL10RA):c.883C>T (p.Pro295Ser)
|
rs201777547
|
0.00024
|
NM_001558.4(IL10RA):c.96G>A (p.Val32=)
|
rs377525753
|
0.00024
|
NM_001844.5(COL2A1):c.1634A>G (p.Asn545Ser)
|
rs145042175
|
0.00024
|
NM_003036.4(SKI):c.1321C>T (p.Arg441Trp)
|
rs201613746
|
0.00024
|
NM_003238.6(TGFB2):c.*45A>G
|
rs769232186
|
0.00024
|
NM_003978.5(PSTPIP1):c.1105G>A (p.Asp369Asn)
|
rs372261106
|
0.00024
|
NM_003978.5(PSTPIP1):c.693G>A (p.Leu231=)
|
rs374055726
|
0.00024
|
NM_004239.4(TRIP11):c.5900A>G (p.Asn1967Ser)
|
rs113605039
|
0.00024
|
NM_005529.7(HSPG2):c.11920G>A (p.Gly3974Arg)
|
rs370471445
|
0.00024
|
NM_022124.6(CDH23):c.1981G>A (p.Val661Met)
|
rs369157174
|
0.00024
|
NM_022168.4(IFIH1):c.2459G>A (p.Arg820His)
|
rs74162087
|
0.00024
|
NM_024529.5(CDC73):c.*1644C>T
|
rs764317616
|
0.00024
|
NM_058172.6(ANTXR2):c.945+7A>G
|
rs144618912
|
0.00024
|
NM_144687.4(NLRP12):c.857C>T (p.Pro286Leu)
|
rs201940393
|
0.00024
|
NM_000059.4(BRCA2):c.5070A>C (p.Lys1690Asn)
|
rs56087561
|
0.00023
|
NM_000090.4(COL3A1):c.1815+5G>A
|
rs146652498
|
0.00023
|
NM_000138.5(FBN1):c.6314-15G>A
|
rs200841830
|
0.00023
|
NM_001370466.1(NOD2):c.2623C>A (p.Gln875Lys)
|
rs201035873
|
0.00023
|
NM_001558.4(IL10RA):c.781C>T (p.Arg261Trp)
|
rs201396764
|
0.00023
|
NM_003036.4(SKI):c.2183C>T (p.Pro728Leu)
|
rs372950890
|
0.00023
|
NM_004239.4(TRIP11):c.950A>T (p.Asp317Val)
|
rs140416653
|
0.00023
|
NM_004371.4(COPA):c.2822G>A (p.Arg941Gln)
|
rs368690601
|
0.00023
|
NM_004612.4(TGFBR1):c.*2095T>G
|
rs201780012
|
0.00023
|
NM_004716.4(PCSK7):c.1678C>G (p.Arg560Gly)
|
rs202038275
|
0.00023
|
NM_018699.4(PRDM5):c.-61G>C
|
rs556802821
|
0.00023
|
NM_022124.6(CDH23):c.9524G>A (p.Arg3175His)
|
rs140884994
|
0.00023
|
NM_030777.4(SLC2A10):c.*1731C>T
|
rs762351956
|
0.00023
|
NM_030777.4(SLC2A10):c.317C>G (p.Ala106Gly)
|
rs144095826
|
0.00023
|
NM_144687.4(NLRP12):c.210G>A (p.Trp70Ter)
|
rs146793418
|
0.00023
|
NM_198253.3(TERT):c.1931C>T (p.Thr644Met)
|
rs201927653
|
0.00023
|
NM_198282.4(STING1):c.1076A>G (p.Gln359Arg)
|
rs141830680
|
0.00023
|
NM_000038.6(APC):c.7036C>T (p.Pro2346Ser)
|
rs200756935
|
0.00022
|
NM_000138.5(FBN1):c.*1432A>T
|
rs750902806
|
0.00022
|
NM_000431.4(MVK):c.680C>T (p.Ser227Leu)
|
rs201360189
|
0.00022
|
NM_001111.5(ADAR):c.1229A>G (p.Glu410Gly)
|
rs145652884
|
0.00022
|
NM_001199138.2(NLRC4):c.2629G>A (p.Val877Met)
|
rs147021864
|
0.00022
|
NM_001366385.1(CARD14):c.205C>T (p.Arg69Trp)
|
rs375624435
|
0.00022
|
NM_001367624.2(ZNF469):c.1020C>T (p.Gly340=)
|
rs273585633
|
0.00022
|
NM_001457.4(FLNB):c.3052G>A (p.Val1018Met)
|
rs2276742
|
0.00022
|
NM_001558.4(IL10RA):c.*863C>T
|
rs779722798
|
0.00022
|
NM_002451.4(MTAP):c.*2968T>C
|
rs554780978
|
0.00022
|
NM_003978.5(PSTPIP1):c.587C>T (p.Ala196Val)
|
rs370965231
|
0.00022
|
NM_003978.5(PSTPIP1):c.628C>T (p.Arg210Trp)
|
rs200998074
|
0.00022
|
NM_004612.4(TGFBR1):c.*2799C>T
|
rs200274678
|
0.00022
|
NM_005902.4(SMAD3):c.-244G>A
|
rs886051374
|
0.00022
|
NM_014639.4(SKIC3):c.3253C>G (p.Gln1085Glu)
|
rs202214985
|
0.00022
|
NM_018699.4(PRDM5):c.236C>G (p.Ser79Cys)
|
rs201325904
|
0.00022
|
NM_024529.5(CDC73):c.*3791T>C
|
rs886045739
|
0.00022
|
NM_080425.4(GNAS):c.154G>A (p.Glu52Lys)
|
rs527488103
|
0.00022
|
NM_144687.4(NLRP12):c.2258G>A (p.Arg753His)
|
rs148745997
|
0.00022
|
NM_183235.3(RAB27A):c.560G>A (p.Arg187Gln)
|
rs182849552
|
0.00022
|
NM_000038.6(APC):c.8462A>G (p.Asp2821Gly)
|
rs780049836
|
0.00021
|
NM_000081.4(LYST):c.997C>T (p.His333Tyr)
|
rs140821981
|
0.00021
|
NM_000138.5(FBN1):c.1027G>A (p.Gly343Arg)
|
rs146726731
|
0.00021
|
NM_000243.3(MEFV):c.1795A>G (p.Asn599Asp)
|
rs104895210
|
0.00021
|
NM_000302.4(PLOD1):c.1789C>T (p.Pro597Ser)
|
rs141692280
|
0.00021
|
NM_000431.4(MVK):c.*358G>A
|
rs575863113
|
0.00021
|
NM_000431.4(MVK):c.*431C>T
|
rs72648044
|
0.00021
|
NM_001171.6(ABCC6):c.2247+22T>G
|
rs72664298
|
0.00021
|
NM_001243133.2(NLRP3):c.2118C>T (p.Leu706=)
|
rs149493236
|
0.00021
|
NM_001366385.1(CARD14):c.234G>T (p.Lys78Asn)
|
rs143747620
|
0.00021
|
NM_001367624.2(ZNF469):c.5162G>T (p.Cys1721Phe)
|
rs568197988
|
0.00021
|
NM_001370466.1(NOD2):c.*1201T>A
|
rs751525993
|
0.00021
|
NM_001370466.1(NOD2):c.*470C>T
|
rs770461687
|
0.00021
|
NM_001370466.1(NOD2):c.1109C>T (p.Pro370Leu)
|
rs150078153
|
0.00021
|
NM_001370466.1(NOD2):c.1245C>T (p.Phe415=)
|
rs151315883
|
0.00021
|
NM_001375808.2(LPIN2):c.*3217A>G
|
rs767074158
|
0.00021
|
NM_001375808.2(LPIN2):c.2445T>C (p.Asp815=)
|
rs140249737
|
0.00021
|
NM_001457.4(FLNB):c.3583G>A (p.Val1195Met)
|
rs200993986
|
0.00021
|
NM_001999.4(FBN2):c.3394G>A (p.Val1132Ile)
|
rs138834515
|
0.00021
|
NM_001999.4(FBN2):c.8282C>T (p.Ala2761Val)
|
rs201962592
|
0.00021
|
NM_002474.3(MYH11):c.217A>C (p.Lys73Gln)
|
rs147447269
|
0.00021
|
NM_002661.5(PLCG2):c.406G>A (p.Ala136Thr)
|
rs367885048
|
0.00021
|
NM_003242.6(TGFBR2):c.*86A>G
|
rs540602629
|
0.00021
|
NM_004273.5(CHST3):c.*1463G>T
|
rs529839491
|
0.00021
|
NM_004273.5(CHST3):c.*3022A>T
|
rs145507314
|
0.00021
|
NM_004273.5(CHST3):c.*4884C>G
|
rs886047185
|
0.00021
|
NM_004364.5(CEBPA):c.388G>A (p.Gly130Ser)
|
rs919904139
|
0.00021
|
NM_004944.4(DNASE1L3):c.854G>A (p.Arg285Lys)
|
rs151161986
|
0.00021
|
NM_005529.7(HSPG2):c.11970G>A (p.Glu3990=)
|
rs140509598
|
0.00021
|
NM_006397.3(RNASEH2A):c.821A>G (p.Asn274Ser)
|
rs373169862
|
0.00021
|
NM_012275.3(IL36RN):c.115+6T>C
|
rs148755083
|
0.00021
|
NM_022124.6(CDH23):c.2236G>A (p.Val746Ile)
|
rs550384315
|
0.00021
|
NM_022166.4(XYLT1):c.1756C>T (p.Arg586Cys)
|
rs139179946
|
0.00021
|
NM_030777.4(SLC2A10):c.1481A>G (p.Tyr494Cys)
|
rs374854180
|
0.00021
|
NM_054027.6(ANKH):c.*3172A>G
|
rs933543701
|
0.00021
|
NM_144687.4(NLRP12):c.629C>T (p.Pro210Leu)
|
rs377594629
|
0.00021
|
NM_173842.3(IL1RN):c.117-9C>T
|
rs373136455
|
0.00021
|
NM_199242.3(UNC13D):c.1759C>T (p.Arg587Cys)
|
rs148574729
|
0.00021
|
NM_207122.2(EXT2):c.1726G>A (p.Glu576Lys)
|
rs373582542
|
0.00021
|
NM_212482.4(FN1):c.3199G>A (p.Val1067Met)
|
rs145483591
|
0.00021
|
NM_000243.3(MEFV):c.1370C>T (p.Ala457Val)
|
rs104895151
|
0.00020
|
NM_001065.4(TNFRSF1A):c.645C>T (p.Pro215=)
|
rs147075345
|
0.00020
|
NM_001102564.3(IFT43):c.296-5602T>C
|
rs141114765
|
0.00020
|
NM_001111.5(ADAR):c.*301C>T
|
rs986381538
|
0.00020
|
NM_001199138.2(NLRC4):c.2369T>C (p.Leu790Pro)
|
rs202095832
|
0.00020
|
NM_001243133.2(NLRP3):c.-68C>T
|
rs201758466
|
0.00020
|
NM_001243133.2(NLRP3):c.1383C>T (p.Cys461=)
|
rs104895398
|
0.00020
|
NM_001367624.2(ZNF469):c.*617C>T
|
rs886052422
|
0.00020
|
NM_001367624.2(ZNF469):c.4907A>G (p.His1636Arg)
|
rs557636016
|
0.00020
|
NM_001370466.1(NOD2):c.2251G>A (p.Glu751Lys)
|
rs104895443
|
0.00020
|
NM_001375808.2(LPIN2):c.*1462A>G
|
rs560770304
|
0.00020
|
NM_002451.4(MTAP):c.*1482A>G
|
rs560361151
|
0.00020
|
NM_003183.6(ADAM17):c.53C>T (p.Pro18Leu)
|
rs144458353
|
0.00020
|
NM_004612.4(TGFBR1):c.-13T>C
|
rs886063220
|
0.00020
|
NM_004612.4(TGFBR1):c.49C>T (p.Leu17=)
|
rs878854714
|
0.00020
|
NM_005902.4(SMAD3):c.*2786T>A
|
rs775905689
|
0.00020
|
NM_022124.6(CDH23):c.4391C>T (p.Ala1464Val)
|
rs374362883
|
0.00020
|
NM_024570.4(RNASEH2B):c.314A>C (p.Asp105Ala)
|
rs201078944
|
0.00020
|
NM_199242.3(UNC13D):c.811C>T (p.Pro271Ser)
|
rs139564938
|
0.00020
|
NM_000071.3(CBS):c.397G>A (p.Asp133Asn)
|
rs539326697
|
0.00019
|
NM_000081.4(LYST):c.5033T>C (p.Val1678Ala)
|
rs151337641
|
0.00019
|
NM_000093.5(COL5A1):c.3983C>G (p.Pro1328Arg)
|
rs140797509
|
0.00019
|
NM_000138.5(FBN1):c.7852G>A (p.Gly2618Arg)
|
rs141133182
|
0.00019
|
NM_000243.3(MEFV):c.1038C>G (p.Gly346=)
|
rs141090517
|
0.00019
|
NM_000302.4(PLOD1):c.1172A>G (p.Asn391Ser)
|
rs763409574
|
0.00019
|
NM_000302.4(PLOD1):c.1649C>T (p.Thr550Met)
|
rs748526375
|
0.00019
|
NM_000628.5(IL10RB):c.215C>T (p.Thr72Met)
|
rs148466782
|
0.00019
|
NM_000628.5(IL10RB):c.645C>T (p.Asp215=)
|
rs148468217
|
0.00019
|
NM_001102564.3(IFT43):c.16G>C (p.Asp6His)
|
rs201966792
|
0.00019
|
NM_001199138.2(NLRC4):c.1569C>T (p.Ile523=)
|
rs758432190
|
0.00019
|
NM_001199138.2(NLRC4):c.2255C>T (p.Pro752Leu)
|
rs147496633
|
0.00019
|
NM_001243133.2(NLRP3):c.674C>T (p.Ala225Val)
|
rs180177493
|
0.00019
|
NM_001366385.1(CARD14):c.1415G>A (p.Arg472His)
|
rs377226624
|
0.00019
|
NM_001367624.2(ZNF469):c.5914G>A (p.Gly1972Arg)
|
rs766410344
|
0.00019
|
NM_001370466.1(NOD2):c.1200G>A (p.Pro400=)
|
rs104895430
|
0.00019
|
NM_001375808.2(LPIN2):c.*1126G>A
|
rs886053750
|
0.00019
|
NM_001558.4(IL10RA):c.*1058A>G
|
rs886047712
|
0.00019
|
NM_001558.4(IL10RA):c.*639C>T
|
rs562410825
|
0.00019
|
NM_001844.5(COL2A1):c.803C>T (p.Pro268Leu)
|
rs142770543
|
0.00019
|
NM_001999.4(FBN2):c.3322A>C (p.Met1108Leu)
|
rs148127874
|
0.00019
|
NM_002296.4(LBR):c.561C>T (p.Tyr187=)
|
rs151100686
|
0.00019
|
NM_002609.4(PDGFRB):c.43G>A (p.Glu15Lys)
|
rs148853962
|
0.00019
|
NM_002661.5(PLCG2):c.2660A>C (p.Glu887Ala)
|
rs369092713
|
0.00019
|
NM_003183.6(ADAM17):c.1960G>A (p.Asp654Asn)
|
rs758594009
|
0.00019
|
NM_003183.6(ADAM17):c.1970A>G (p.Asp657Gly)
|
rs144657795
|
0.00019
|
NM_003982.4(SLC7A7):c.1064G>A (p.Arg355Gln)
|
rs11568423
|
0.00019
|
NM_004273.5(CHST3):c.*3565A>G
|
rs151095465
|
0.00019
|
NM_004273.5(CHST3):c.*4534G>A
|
rs372116465
|
0.00019
|
NM_004371.4(COPA):c.2234G>A (p.Arg745His)
|
rs138441444
|
0.00019
|
NM_005529.7(HSPG2):c.1259G>A (p.Arg420Gln)
|
rs143706338
|
0.00019
|
NM_006929.5(SKIC2):c.1341C>T (p.His447=)
|
rs771281472
|
0.00019
|
NM_006929.5(SKIC2):c.791A>T (p.Glu264Val)
|
rs200318261
|
0.00019
|
NM_007194.4(CHEK2):c.1270T>C (p.Tyr424His)
|
rs139366548
|
0.00019
|
NM_012275.3(IL36RN):c.*594T>C
|
rs144995197
|
0.00019
|
NM_014639.4(SKIC3):c.4507C>T (p.Arg1503Cys)
|
rs200067423
|
0.00019
|
NM_022124.6(CDH23):c.5470C>T (p.Arg1824Cys)
|
rs755817193
|
0.00019
|
NM_022124.6(CDH23):c.9326G>A (p.Arg3109His)
|
rs200188029
|
0.00019
|
NM_030777.4(SLC2A10):c.388C>T (p.Arg130Trp)
|
rs201150247
|
0.00019
|
NM_030777.4(SLC2A10):c.781G>A (p.Val261Ile)
|
rs372561968
|
0.00019
|
NM_054027.6(ANKH):c.*6235G>A
|
rs546234916
|
0.00019
|
NM_058172.6(ANTXR2):c.-442C>G
|
rs886059663
|
0.00019
|
NM_144687.4(NLRP12):c.1022C>T (p.Thr341Ile)
|
rs200996095
|
0.00019
|
NM_144687.4(NLRP12):c.1054C>T (p.Arg352Cys)
|
rs199881207
|
0.00019
|
NM_144687.4(NLRP12):c.1182C>G (p.Asn394Lys)
|
rs201241894
|
0.00019
|
NM_198282.4(STING1):c.575G>T (p.Gly192Val)
|
rs201096097
|
0.00019
|
NM_199242.3(UNC13D):c.114G>A (p.Pro38=)
|
rs755103812
|
0.00019
|
NM_199242.3(UNC13D):c.887C>T (p.Pro296Leu)
|
rs541737648
|
0.00019
|
NM_207122.2(EXT2):c.*945G>A
|
rs886048282
|
0.00019
|
NM_212482.4(FN1):c.141A>C (p.Gln47His)
|
rs145263539
|
0.00019
|
NM_212482.4(FN1):c.5903C>G (p.Thr1968Ser)
|
rs201136367
|
0.00019
|
NM_000138.5(FBN1):c.3590-8T>C
|
rs140600
|
0.00018
|
NM_000138.5(FBN1):c.4727T>C (p.Met1576Thr)
|
rs776625874
|
0.00018
|
NM_000138.5(FBN1):c.76G>C (p.Asp26His)
|
rs146267697
|
0.00018
|
NM_000138.5(FBN1):c.902G>T (p.Gly301Val)
|
rs142888621
|
0.00018
|
NM_000243.3(MEFV):c.*467_*469del
|
rs746257932
|
0.00018
|
NM_000243.3(MEFV):c.656G>A (p.Gly219Asp)
|
rs752973530
|
0.00018
|
NM_000431.4(MVK):c.663T>G (p.Ile221Met)
|
rs757289914
|
0.00018
|
NM_001065.4(TNFRSF1A):c.1206C>T (p.Ser402=)
|
rs148334665
|
0.00018
|
NM_001065.4(TNFRSF1A):c.460G>A (p.Val154Met)
|
rs201083197
|
0.00018
|
NM_001270508.2(TNFAIP3):c.1193T>C (p.Val398Ala)
|
rs140616865
|
0.00018
|
NM_001366385.1(CARD14):c.2476C>T (p.Arg826Trp)
|
rs139467141
|
0.00018
|
NM_001375808.2(LPIN2):c.1132C>T (p.Pro378Ser)
|
rs201678207
|
0.00018
|
NM_001375808.2(LPIN2):c.2327+10C>T
|
rs367921036
|
0.00018
|
NM_001754.5(RUNX1):c.-59-10C>T
|
rs578080277
|
0.00018
|
NM_002381.5(MATN3):c.671G>A (p.Arg224Gln)
|
rs201491595
|
0.00018
|
NM_002451.4(MTAP):c.*3361C>T
|
rs138870323
|
0.00018
|
NM_003239.5(TGFB3):c.412T>G (p.Ser138Ala)
|
rs201453600
|
0.00018
|
NM_004612.4(TGFBR1):c.*3314A>G
|
rs200374520
|
0.00018
|
NM_005373.3(MPL):c.1460C>T (p.Thr487Ile)
|
rs770428240
|
0.00018
|
NM_014639.4(SKIC3):c.2125C>T (p.His709Tyr)
|
rs140117667
|
0.00018
|
NM_014639.4(SKIC3):c.3808C>G (p.Pro1270Ala)
|
rs146627706
|
0.00018
|
NM_024529.5(CDC73):c.*1833A>G
|
rs150894778
|
0.00018
|
NM_031229.4(RBCK1):c.-9C>A
|
rs140276089
|
0.00018
|
NM_032193.4(RNASEH2C):c.*1977C>T
|
rs886048482
|
0.00018
|
NM_058172.6(ANTXR2):c.-441C>T
|
rs778888047
|
0.00018
|
NM_198282.4(STING1):c.758G>A (p.Arg253Gln)
|
rs148833313
|
0.00018
|
NM_000243.3(MEFV):c.1245C>T (p.Val415=)
|
rs104895195
|
0.00017
|
NM_000302.4(PLOD1):c.376T>G (p.Phe126Val)
|
rs144702307
|
0.00017
|
NM_000302.4(PLOD1):c.579+10A>G
|
rs538255620
|
0.00017
|
NM_000388.4(CASR):c.*1193C>T
|
rs886057835
|
0.00017
|
NM_000388.4(CASR):c.*1197C>G
|
rs886057836
|
0.00017
|
NM_001032283.3(TMPO):c.565+1186T>A
|
rs146364154
|
0.00017
|
NM_001171.6(ABCC6):c.3979G>A (p.Gly1327Arg)
|
rs79536709
|
0.00017
|
NM_001282225.2(ADA2):c.46C>T (p.Leu16=)
|
rs367610393
|
0.00017
|
NM_001367624.2(ZNF469):c.5144G>A (p.Arg1715Lys)
|
rs281865149
|
0.00017
|
NM_001367624.2(ZNF469):c.7312C>G (p.Pro2438Ala)
|
rs546332627
|
0.00017
|
NM_001370466.1(NOD2):c.2381+7G>T
|
rs202111813
|
0.00017
|
NM_001375808.2(LPIN2):c.*1874C>G
|
rs75771450
|
0.00017
|
NM_001375808.2(LPIN2):c.*945G>A
|
rs112444822
|
0.00017
|
NM_001375808.2(LPIN2):c.2328-13A>T
|
rs199830303
|
0.00017
|
NM_001558.4(IL10RA):c.1145G>C (p.Ser382Thr)
|
rs376309967
|
0.00017
|
NM_001999.4(FBN2):c.7700C>T (p.Thr2567Ile)
|
rs150672907
|
0.00017
|
NM_002451.4(MTAP):c.*2033G>A
|
rs547939395
|
0.00017
|
NM_002451.4(MTAP):c.*2481T>C
|
rs937544830
|
0.00017
|
NM_004944.4(DNASE1L3):c.274C>T (p.Arg92Trp)
|
rs141477807
|
0.00017
|
NM_005373.3(MPL):c.655C>G (p.Gln219Glu)
|
rs142737453
|
0.00017
|
NM_005902.4(SMAD3):c.-265T>G
|
rs886051373
|
0.00017
|
NM_024408.4(NOTCH2):c.3206G>A (p.Arg1069Gln)
|
rs146014987
|
0.00017
|
NM_058172.6(ANTXR2):c.*2899A>G
|
rs529893604
|
0.00017
|
NM_058172.6(ANTXR2):c.195C>T (p.Phe65=)
|
rs375440055
|
0.00017
|
NM_130384.3(ATRIP):c.*583A>G
|
rs767364235
|
0.00017
|
NM_000095.3(COMP):c.382G>A (p.Val128Ile)
|
rs143954978
|
0.00016
|
NM_000138.5(FBN1):c.3454G>A (p.Ala1152Thr)
|
rs140890215
|
0.00016
|
NM_000138.5(FBN1):c.59A>G (p.Tyr20Cys)
|
rs201309310
|
0.00016
|
NM_000138.5(FBN1):c.6380-3A>G
|
rs567703513
|
0.00016
|
NM_000138.5(FBN1):c.8027C>T (p.Pro2676Leu)
|
rs146469379
|
0.00016
|
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_000302.4(PLOD1):c.1667A>G (p.Tyr556Cys)
|
rs146360295
|
0.00016
|
NM_000302.4(PLOD1):c.648G>T (p.Glu216Asp)
|
rs150852515
|
0.00016
|
NM_000388.4(CASR):c.*1169C>T
|
rs200652347
|
0.00016
|
NM_000393.5(COL5A2):c.2117C>T (p.Pro706Leu)
|
rs146175905
|
0.00016
|
NM_000628.5(IL10RB):c.763G>A (p.Ala255Thr)
|
rs182875134
|
0.00016
|
NM_001065.4(TNFRSF1A):c.*297G>A
|
rs202094667
|
0.00016
|
NM_001065.4(TNFRSF1A):c.194-14G>A
|
rs104895241
|
0.00016
|
NM_001083116.3(PRF1):c.1202C>T (p.Ala401Val)
|
rs144242324
|
0.00016
|
NM_001111.5(ADAR):c.1625A>G (p.Asn542Ser)
|
rs200242235
|
0.00016
|
NM_001122681.2(SH3BP2):c.*821A>G
|
rs886059362
|
0.00016
|
NM_001122681.2(SH3BP2):c.472C>T (p.Arg158Trp)
|
rs200463050
|
0.00016
|
NM_001171.6(ABCC6):c.1424A>T (p.His475Leu)
|
rs151187637
|
0.00016
|
NM_001171.6(ABCC6):c.2074G>A (p.Ala692Thr)
|
rs151272575
|
0.00016
|
NM_001199138.2(NLRC4):c.26G>A (p.Arg9Gln)
|
rs374574191
|
0.00016
|
NM_001282225.2(ADA2):c.143G>A (p.Gly48Glu)
|
rs140149634
|
0.00016
|
NM_001366385.1(CARD14):c.1199G>A (p.Arg400His)
|
rs147466598
|
0.00016
|
NM_001367624.2(ZNF469):c.3931C>T (p.Pro1311Ser)
|
rs187453092
|
0.00016
|
NM_001367624.2(ZNF469):c.9941A>G (p.Asp3314Gly)
|
rs757791330
|
0.00016
|
NM_001375808.2(LPIN2):c.*660A>G
|
rs754769201
|
0.00016
|
NM_001611.5(ACP5):c.316G>A (p.Val106Met)
|
rs148219285
|
0.00016
|
NM_001844.5(COL2A1):c.4064G>A (p.Gly1355Asp)
|
rs201646745
|
0.00016
|
NM_001851.6(COL9A1):c.680C>T (p.Pro227Leu)
|
rs145207010
|
0.00016
|
NM_001852.4(COL9A2):c.942G>A (p.Thr314=)
|
rs144615318
|
0.00016
|
NM_001999.4(FBN2):c.*671G>A
|
rs886059886
|
0.00016
|
NM_002474.3(MYH11):c.3291C>T (p.Ala1097=)
|
rs147605116
|
0.00016
|
NM_002661.5(PLCG2):c.2953G>A (p.Val985Ile)
|
rs199840870
|
0.00016
|
NM_002661.5(PLCG2):c.3312G>A (p.Val1104=)
|
rs375577536
|
0.00016
|
NM_002661.5(PLCG2):c.398C>T (p.Ala133Val)
|
rs61755444
|
0.00016
|
NM_002661.5(PLCG2):c.581A>T (p.Lys194Ile)
|
rs372054297
|
0.00016
|
NM_002661.5(PLCG2):c.751A>G (p.Ile251Val)
|
rs190840748
|
0.00016
|
NM_004273.5(CHST3):c.*1664G>C
|
rs375960396
|
0.00016
|
NM_004273.5(CHST3):c.*2843_*2844del
|
rs886047178
|
0.00016
|
NM_004273.5(CHST3):c.*3131G>A
|
rs577353046
|
0.00016
|
NM_004273.5(CHST3):c.*4869G>A
|
rs773240688
|
0.00016
|
NM_005902.4(SMAD3):c.636G>A (p.Met212Ile)
|
rs202094530
|
0.00016
|
NM_005902.4(SMAD3):c.984G>A (p.Pro328=)
|
rs150994304
|
0.00016
|
NM_006949.4(STXBP2):c.1759C>G (p.Leu587Val)
|
rs756684008
|
0.00016
|
NM_006949.4(STXBP2):c.953C>T (p.Thr318Met)
|
rs201293382
|
0.00016
|
NM_007194.4(CHEK2):c.715G>A (p.Glu239Lys)
|
rs121908702
|
0.00016
|
NM_022124.6(CDH23):c.4000C>T (p.Arg1334Trp)
|
rs373276722
|
0.00016
|
NM_024408.4(NOTCH2):c.6893G>A (p.Arg2298Gln)
|
rs140832430
|
0.00016
|
NM_024529.5(CDC73):c.-143G>C
|
rs778446879
|
0.00016
|
NM_030777.4(SLC2A10):c.780C>T (p.Ser260=)
|
rs181500247
|
0.00016
|
NM_032193.4(RNASEH2C):c.*385C>A
|
rs757672652
|
0.00016
|
NM_032193.4(RNASEH2C):c.*440G>C
|
rs544558074
|
0.00016
|
NM_032193.4(RNASEH2C):c.268A>G (p.Lys90Glu)
|
rs200659526
|
0.00016
|
NM_032193.4(RNASEH2C):c.269A>T (p.Lys90Met)
|
rs772347588
|
0.00016
|
NM_144687.4(NLRP12):c.2135A>G (p.Asn712Ser)
|
rs138187543
|
0.00016
|
NM_144687.4(NLRP12):c.2212A>C (p.Arg738=)
|
rs199966186
|
0.00016
|
NM_144687.4(NLRP12):c.3146C>T (p.Ala1049Val)
|
rs146786265
|
0.00016
|
NM_173841.2(IL1RN):c.-71A>G
|
rs748164399
|
0.00016
|
NM_183235.3(RAB27A):c.559C>T (p.Arg187Trp)
|
rs144946000
|
0.00016
|
NM_207122.2(EXT2):c.*838T>G
|
rs991198189
|
0.00016
|
NM_212482.4(FN1):c.4262C>G (p.Pro1421Arg)
|
rs146898035
|
0.00016
|
NM_000038.6(APC):c.1606G>A (p.Glu536Lys)
|
rs138098808
|
0.00015
|
NM_000138.5(FBN1):c.3423G>A (p.Pro1141=)
|
rs140396599
|
0.00015
|
NM_000138.5(FBN1):c.7056C>T (p.Ser2352=)
|
rs149697299
|
0.00015
|
NM_000138.5(FBN1):c.863-3C>T
|
rs955955089
|
0.00015
|
NM_000243.3(MEFV):c.1261-28A>G
|
rs104895140
|
0.00015
|
NM_000243.3(MEFV):c.1518C>T (p.Ile506=)
|
rs104895099
|
0.00015
|
NM_000264.5(PTCH1):c.2059G>A (p.Val687Met)
|
rs374691153
|
0.00015
|
NM_000302.4(PLOD1):c.472A>G (p.Ile158Val)
|
rs147924545
|
0.00015
|
NM_000302.4(PLOD1):c.897G>A (p.Pro299=)
|
rs199946373
|
0.00015
|
NM_001083116.3(PRF1):c.866C>T (p.Thr289Met)
|
rs150628656
|
0.00015
|
NM_001122681.2(SH3BP2):c.1367C>T (p.Ser456Leu)
|
rs199818232
|
0.00015
|
NM_001171.6(ABCC6):c.1060G>A (p.Val354Met)
|
rs372132926
|
0.00015
|
NM_001171.6(ABCC6):c.1285G>A (p.Gly429Arg)
|
rs978346965
|
0.00015
|
NM_001199138.2(NLRC4):c.928C>T (p.Arg310Ter)
|
rs199475953
|
0.00015
|
NM_001243133.2(NLRP3):c.2018G>A (p.Arg673Gln)
|
rs142651552
|
0.00015
|
NM_001243133.2(NLRP3):c.488A>G (p.Asn163Ser)
|
rs199475733
|
0.00015
|
NM_001367624.2(ZNF469):c.7514C>T (p.Pro2505Leu)
|
rs552311966
|
0.00015
|
NM_001375808.2(LPIN2):c.*2557G>A
|
rs890590348
|
0.00015
|
NM_001375808.2(LPIN2):c.1957G>A (p.Asp653Asn)
|
rs148258407
|
0.00015
|
NM_001457.4(FLNB):c.2095C>T (p.Arg699Trp)
|
rs200554477
|
0.00015
|
NM_001558.4(IL10RA):c.1283C>T (p.Pro428Leu)
|
rs752519410
|
0.00015
|
NM_001611.5(ACP5):c.17C>T (p.Ala6Val)
|
rs182776939
|
0.00015
|
NM_001611.5(ACP5):c.413G>A (p.Arg138His)
|
rs143362935
|
0.00015
|
NM_001844.5(COL2A1):c.*158C>A
|
rs867067070
|
0.00015
|
NM_002296.4(LBR):c.1315-8C>T
|
rs369094974
|
0.00015
|
NM_002661.5(PLCG2):c.1695G>C (p.Glu565Asp)
|
rs375590398
|
0.00015
|
NM_003238.6(TGFB2):c.199G>A (p.Val67Met)
|
rs201761868
|
0.00015
|
NM_003242.6(TGFBR2):c.*407A>G
|
rs917786105
|
0.00015
|
NM_004364.5(CEBPA):c.64C>T (p.Pro22Ser)
|
rs770636941
|
0.00015
|
NM_005373.3(MPL):c.619G>A (p.Asp207Asn)
|
rs201385967
|
0.00015
|
NM_006949.4(STXBP2):c.561G>A (p.Pro187=)
|
rs535372251
|
0.00015
|
NM_030777.4(SLC2A10):c.1370C>T (p.Ala457Val)
|
rs201393026
|
0.00015
|
NM_030777.4(SLC2A10):c.808G>A (p.Val270Met)
|
rs749220947
|
0.00015
|
NM_032193.4(RNASEH2C):c.*747G>A
|
rs201326733
|
0.00015
|
NM_144687.4(NLRP12):c.38T>G (p.Leu13Arg)
|
rs374428779
|
0.00015
|
NM_148919.4(PSMB8):c.662C>T (p.Pro221Leu)
|
rs141273371
|
0.00015
|
NM_148919.4(PSMB8):c.804G>A (p.Leu268=)
|
rs371969268
|
0.00015
|
NM_000127.3(EXT1):c.1749G>C (p.Gln583His)
|
rs575895733
|
0.00014
|
NM_000138.5(FBN1):c.1571C>T (p.Thr524Met)
|
rs370575495
|
0.00014
|
NM_000138.5(FBN1):c.3936C>T (p.Ser1312=)
|
rs779913610
|
0.00014
|
NM_000138.5(FBN1):c.4001G>A (p.Gly1334Asp)
|
rs191989961
|
0.00014
|
NM_000138.5(FBN1):c.5917+3A>G
|
rs202158568
|
0.00014
|
NM_000138.5(FBN1):c.7455T>G (p.Asp2485Glu)
|
rs377272529
|
0.00014
|
NM_000138.5(FBN1):c.7661G>A (p.Arg2554Gln)
|
rs199522781
|
0.00014
|
NM_000243.3(MEFV):c.*679C>G
|
rs886051969
|
0.00014
|
NM_000243.3(MEFV):c.*981A>G
|
rs1354569506
|
0.00014
|
NM_000243.3(MEFV):c.1502G>A (p.Arg501His)
|
rs104895196
|
0.00014
|
NM_000243.3(MEFV):c.1528G>A (p.Asp510Asn)
|
rs200557537
|
0.00014
|
NM_000243.3(MEFV):c.1770G>A (p.Leu590=)
|
rs139692347
|
0.00014
|
NM_000243.3(MEFV):c.331G>A (p.Gly111Arg)
|
rs112739451
|
0.00014
|
NM_000302.4(PLOD1):c.1321C>T (p.Arg441Trp)
|
rs11553676
|
0.00014
|
NM_000388.4(CASR):c.1752G>A (p.Lys584=)
|
rs138638329
|
0.00014
|
NM_000431.4(MVK):c.524A>G (p.Asn175Ser)
|
rs138818135
|
0.00014
|
NM_000628.5(IL10RB):c.953C>T (p.Pro318Leu)
|
rs141414815
|
0.00014
|
NM_000628.5(IL10RB):c.954G>A (p.Pro318=)
|
rs374161818
|
0.00014
|
NM_001122681.2(SH3BP2):c.1123G>A (p.Gly375Arg)
|
rs375094936
|
0.00014
|
NM_001122681.2(SH3BP2):c.1655G>A (p.Arg552Gln)
|
rs374608155
|
0.00014
|
NM_001242.5(CD27):c.713G>A (p.Arg238Lys)
|
rs75524088
|
0.00014
|
NM_001243133.2(NLRP3):c.-369G>A
|
rs202203407
|
0.00014
|
NM_001282225.2(ADA2):c.1065C>A (p.Phe355Leu)
|
rs116020027
|
0.00014
|
NM_001282225.2(ADA2):c.1474A>G (p.Thr492Ala)
|
rs780459163
|
0.00014
|
NM_001282225.2(ADA2):c.543C>T (p.Ser181=)
|
rs751859598
|
0.00014
|
NM_001367624.2(ZNF469):c.676G>A (p.Glu226Lys)
|
rs546141859
|
0.00014
|
NM_001370466.1(NOD2):c.2065C>T (p.Arg689Cys)
|
rs776025574
|
0.00014
|
NM_001370466.1(NOD2):c.2149C>T (p.Arg717Trp)
|
rs140876663
|
0.00014
|
NM_001370466.1(NOD2):c.2465+2dup
|
rs748508924
|
0.00014
|
NM_001370466.1(NOD2):c.2845G>A (p.Ala949Thr)
|
rs148561632
|
0.00014
|
NM_001370466.1(NOD2):c.794C>T (p.Ala265Val)
|
rs149338478
|
0.00014
|
NM_001457.4(FLNB):c.864C>T (p.Asp288=)
|
rs141151998
|
0.00014
|
NM_001558.4(IL10RA):c.*9G>A
|
rs377174523
|
0.00014
|
NM_001844.5(COL2A1):c.246C>T (p.Phe82=)
|
rs142161948
|
0.00014
|
NM_001999.4(FBN2):c.*1009A>G
|
rs375097557
|
0.00014
|
NM_001999.4(FBN2):c.2536G>A (p.Glu846Lys)
|
rs375666281
|
0.00014
|
NM_001999.4(FBN2):c.3341C>T (p.Thr1114Met)
|
rs202219940
|
0.00014
|
NM_001999.4(FBN2):c.4642G>A (p.Val1548Ile)
|
rs140313460
|
0.00014
|
NM_002381.5(MATN3):c.513C>T (p.Asp171=)
|
rs571353547
|
0.00014
|
NM_002451.4(MTAP):c.*2837T>A
|
rs566068002
|
0.00014
|
NM_002609.4(PDGFRB):c.2023+5C>T
|
rs369842668
|
0.00014
|
NM_002661.5(PLCG2):c.2312A>G (p.Gln771Arg)
|
rs201803492
|
0.00014
|
NM_002661.5(PLCG2):c.510G>T (p.Leu170Phe)
|
rs759598100
|
0.00014
|
NM_003239.5(TGFB3):c.-547dup
|
rs886050802
|
0.00014
|
NM_003978.5(PSTPIP1):c.1115C>T (p.Ala372Val)
|
rs200188483
|
0.00014
|
NM_003978.5(PSTPIP1):c.1123C>G (p.Pro375Ala)
|
rs781781950
|
0.00014
|
NM_003978.5(PSTPIP1):c.555C>T (p.Thr185=)
|
rs370782742
|
0.00014
|
NM_004612.4(TGFBR1):c.*2290T>C
|
rs1001943455
|
0.00014
|
NM_005188.4(CBL):c.2513G>T (p.Gly838Val)
|
rs144191570
|
0.00014
|
NM_007194.4(CHEK2):c.1525C>T (p.Pro509Ser)
|
rs587780179
|
0.00014
|
NM_014639.4(SKIC3):c.829G>A (p.Gly277Ser)
|
rs200385766
|
0.00014
|
NM_016169.4(SUFU):c.839G>A (p.Arg280Gln)
|
rs145704867
|
0.00014
|
NM_020800.3(IFT80):c.807T>C (p.Thr269=)
|
rs372419950
|
0.00014
|
NM_022124.6(CDH23):c.4405A>G (p.Ile1469Val)
|
rs200635365
|
0.00014
|
NM_022124.6(CDH23):c.4864G>A (p.Val1622Met)
|
rs199754104
|
0.00014
|
NM_023110.3(FGFR1):c.422C>G (p.Thr141Arg)
|
rs200482627
|
0.00014
|
NM_024408.4(NOTCH2):c.2824A>G (p.Thr942Ala)
|
rs372549390
|
0.00014
|
NM_024408.4(NOTCH2):c.3014G>A (p.Gly1005Glu)
|
rs782036233
|
0.00014
|
NM_024529.5(CDC73):c.989G>A (p.Arg330Gln)
|
rs149875598
|
0.00014
|
NM_030777.4(SLC2A10):c.1324G>C (p.Glu442Gln)
|
rs143265363
|
0.00014
|
NM_030777.4(SLC2A10):c.1453A>G (p.Thr485Ala)
|
rs138245283
|
0.00014
|
NM_030777.4(SLC2A10):c.1600C>T (p.Arg534Cys)
|
rs142577271
|
0.00014
|
NM_031229.4(RBCK1):c.1336C>T (p.Arg446Cys)
|
rs372540581
|
0.00014
|
NM_148919.4(PSMB8):c.670G>T (p.Ala224Ser)
|
rs114636648
|
0.00014
|
NM_183235.3(RAB27A):c.17A>G (p.Tyr6Cys)
|
rs145253993
|
0.00014
|
NM_199242.3(UNC13D):c.261+8C>T
|
rs573508258
|
0.00014
|
NM_207122.2(EXT2):c.2143A>G (p.Ile715Val)
|
rs199564714
|
0.00014
|
NM_000071.3(CBS):c.1539C>T (p.His513=)
|
rs187828882
|
0.00013
|
NM_000138.5(FBN1):c.4748-12T>A
|
rs368723745
|
0.00013
|
NM_000138.5(FBN1):c.6054C>T (p.Val2018=)
|
rs542953863
|
0.00013
|
NM_000302.4(PLOD1):c.303C>T (p.Ser101=)
|
rs147980436
|
0.00013
|
NM_000302.4(PLOD1):c.839T>C (p.Ile280Thr)
|
rs199669594
|
0.00013
|
NM_000431.4(MVK):c.317G>A (p.Arg106His)
|
rs778337320
|
0.00013
|
NM_000431.4(MVK):c.877G>A (p.Val293Met)
|
rs104895356
|
0.00013
|
NM_001032283.3(TMPO):c.565+2182T>C
|
rs571417296
|
0.00013
|
NM_001083116.3(PRF1):c.695G>A (p.Arg232His)
|
rs747380397
|
0.00013
|
NM_001127671.2(LIFR):c.2671-10T>G
|
rs201596849
|
0.00013
|
NM_001199138.2(NLRC4):c.2876G>C (p.Gly959Ala)
|
rs147026757
|
0.00013
|
NM_001243133.2(NLRP3):c.606G>A (p.Lys202=)
|
rs146606931
|
0.00013
|
NM_001282225.2(ADA2):c.145C>T (p.Arg49Trp)
|
rs199614299
|
0.00013
|
NM_001282225.2(ADA2):c.147G>A (p.Arg49=)
|
rs146125672
|
0.00013
|
NM_001366385.1(CARD14):c.683T>G (p.Leu228Arg)
|
rs142246283
|
0.00013
|
NM_001366385.1(CARD14):c.881C>T (p.Ala294Val)
|
rs139466192
|
0.00013
|
NM_001367624.2(ZNF469):c.11107G>A (p.Val3703Met)
|
rs151127652
|
0.00013
|
NM_001367624.2(ZNF469):c.4892G>A (p.Gly1631Glu)
|
rs755244502
|
0.00013
|
NM_001367624.2(ZNF469):c.7497G>A (p.Pro2499=)
|
rs768288160
|
0.00013
|
NM_001367624.2(ZNF469):c.8785G>A (p.Glu2929Lys)
|
rs578166707
|
0.00013
|
NM_001367624.2(ZNF469):c.941C>T (p.Pro314Leu)
|
rs777666112
|
0.00013
|
NM_001370466.1(NOD2):c.622C>T (p.Arg208Cys)
|
rs104895422
|
0.00013
|
NM_001375808.2(LPIN2):c.1514T>C (p.Ile505Thr)
|
rs146424724
|
0.00013
|
NM_001375808.2(LPIN2):c.698C>T (p.Thr233Ile)
|
rs139654849
|
0.00013
|
NM_001558.4(IL10RA):c.407A>G (p.Asn136Ser)
|
rs150401784
|
0.00013
|
NM_001558.4(IL10RA):c.574C>T (p.Leu192Phe)
|
rs148964568
|
0.00013
|
NM_001852.4(COL9A2):c.1761C>T (p.Ala587=)
|
rs370130857
|
0.00013
|
NM_001999.4(FBN2):c.2252A>C (p.Glu751Ala)
|
rs147610681
|
0.00013
|
NM_002451.4(MTAP):c.*1384G>C
|
rs755911467
|
0.00013
|
NM_002451.4(MTAP):c.*2912G>C
|
rs775831366
|
0.00013
|
NM_003036.4(SKI):c.640A>G (p.Ser214Gly)
|
rs139179843
|
0.00013
|
NM_003238.6(TGFB2):c.*1338T>A
|
rs574858097
|
0.00013
|
NM_003239.5(TGFB3):c.1169A>T (p.Tyr390Phe)
|
rs996297395
|
0.00013
|
NM_003978.5(PSTPIP1):c.37T>G (p.Cys13Gly)
|
rs376128040
|
0.00013
|
NM_004273.5(CHST3):c.570C>T (p.Asp190=)
|
rs367857089
|
0.00013
|
NM_004612.4(TGFBR1):c.*372T>C
|
rs200786932
|
0.00013
|
NM_004944.4(DNASE1L3):c.152G>A (p.Arg51His)
|
rs372315713
|
0.00013
|
NM_005902.4(SMAD3):c.*2285G>A
|
rs62014609
|
0.00013
|
NM_005902.4(SMAD3):c.*2403C>T
|
rs755985886
|
0.00013
|
NM_006397.3(RNASEH2A):c.653C>T (p.Ala218Val)
|
rs112503877
|
0.00013
|
NM_006929.5(SKIC2):c.3430C>T (p.Arg1144Trp)
|
rs146401600
|
0.00013
|
NM_015139.3(SLC35D1):c.98C>T (p.Ser33Leu)
|
rs34458186
|
0.00013
|
NM_015474.4(SAMHD1):c.1753G>A (p.Asp585Asn)
|
rs202165710
|
0.00013
|
NM_024408.4(NOTCH2):c.1228G>T (p.Ala410Ser)
|
rs370349228
|
0.00013
|
NM_024408.4(NOTCH2):c.5815G>T (p.Ala1939Ser)
|
rs373667418
|
0.00013
|
NM_024529.5(CDC73):c.*683G>A
|
rs905879297
|
0.00013
|
NM_024570.4(RNASEH2B):c.20G>A (p.Cys7Tyr)
|
rs551573692
|
0.00013
|
NM_025132.4(WDR19):c.3483+5G>A
|
rs201216969
|
0.00013
|
NM_031229.4(RBCK1):c.1390C>T (p.Arg464Cys)
|
rs145423115
|
0.00013
|
NM_032193.4(RNASEH2C):c.*1658G>C
|
rs886048488
|
0.00013
|
NM_054027.6(ANKH):c.*3386G>A
|
rs368727070
|
0.00013
|
NM_054027.6(ANKH):c.*4250T>C
|
rs776929735
|
0.00013
|
NM_054027.6(ANKH):c.*5900T>C
|
rs943784205
|
0.00013
|
NM_054027.6(ANKH):c.*6034A>C
|
rs886060067
|
0.00013
|
NM_054027.6(ANKH):c.*6205G>A
|
rs886060065
|
0.00013
|
NM_144687.4(NLRP12):c.1854C>G (p.Tyr618Ter)
|
rs142487599
|
0.00013
|
NM_183235.3(RAB27A):c.307A>G (p.Asn103Asp)
|
rs144492641
|
0.00013
|
NM_199242.3(UNC13D):c.2180G>A (p.Arg727Gln)
|
rs747390615
|
0.00013
|
NM_199242.3(UNC13D):c.2588G>A (p.Gly863Asp)
|
rs140184929
|
0.00013
|
NM_000038.6(APC):c.5801C>T (p.Pro1934Leu)
|
rs587780600
|
0.00012
|
NM_000081.4(LYST):c.716G>A (p.Ser239Asn)
|
rs534142793
|
0.00012
|
NM_000127.3(EXT1):c.124G>A (p.Gly42Ser)
|
rs368382074
|
0.00012
|
NM_000138.5(FBN1):c.185G>A (p.Arg62His)
|
rs145942328
|
0.00012
|
NM_000302.4(PLOD1):c.1182G>C (p.Arg394=)
|
rs144439284
|
0.00012
|
NM_000302.4(PLOD1):c.193A>T (p.Asn65Tyr)
|
rs143604754
|
0.00012
|
NM_001122681.2(SH3BP2):c.*1116C>T
|
rs760035123
|
0.00012
|
NM_001167.4(XIAP):c.844G>A (p.Glu282Lys)
|
rs777303823
|
0.00012
|
NM_001171.6(ABCC6):c.3431C>T (p.Ala1144Val)
|
rs145553069
|
0.00012
|
NM_001199138.2(NLRC4):c.2380T>C (p.Cys794Arg)
|
rs140154587
|
0.00012
|
NM_001199397.3(NEK1):c.859C>G (p.Pro287Ala)
|
rs35222922
|
0.00012
|
NM_001270508.2(TNFAIP3):c.839G>A (p.Arg280Gln)
|
rs200840068
|
0.00012
|
NM_001282225.2(ADA2):c.985G>A (p.Asp329Asn)
|
rs369716341
|
0.00012
|
NM_001367624.2(ZNF469):c.*218G>A
|
rs137889724
|
0.00012
|
NM_001367624.2(ZNF469):c.*285C>T
|
rs35994806
|
0.00012
|
NM_001367624.2(ZNF469):c.10354G>A (p.Gly3452Ser)
|
rs548646578
|
0.00012
|
NM_001367624.2(ZNF469):c.11038T>A (p.Ser3680Thr)
|
rs746733236
|
0.00012
|
NM_001367624.2(ZNF469):c.3565C>A (p.Pro1189Thr)
|
rs766878740
|
0.00012
|
NM_001367624.2(ZNF469):c.7340G>C (p.Arg2447Thr)
|
rs558035857
|
0.00012
|
NM_001375808.2(LPIN2):c.*2866A>C
|
rs17880885
|
0.00012
|
NM_001375808.2(LPIN2):c.2535A>C (p.Gly845=)
|
rs186864136
|
0.00012
|
NM_001558.4(IL10RA):c.1057C>T (p.Pro353Ser)
|
rs35235073
|
0.00012
|
NM_001844.5(COL2A1):c.550G>A (p.Ala184Thr)
|
rs201817670
|
0.00012
|
NM_001999.4(FBN2):c.2625T>C (p.Cys875=)
|
rs371502563
|
0.00012
|
NM_001999.4(FBN2):c.2990-14C>T
|
rs377500777
|
0.00012
|
NM_001999.4(FBN2):c.6077C>T (p.Ser2026Phe)
|
rs139668142
|
0.00012
|
NM_001999.4(FBN2):c.6964A>G (p.Ile2322Val)
|
rs756500246
|
0.00012
|
NM_002451.4(MTAP):c.*2269A>T
|
rs760747427
|
0.00012
|
NM_003977.4(AIP):c.733G>A (p.Glu245Lys)
|
rs150645662
|
0.00012
|
NM_003978.5(PSTPIP1):c.1054G>A (p.Glu352Lys)
|
rs201186216
|
0.00012
|
NM_004304.5(ALK):c.1283-5T>C
|
rs377214413
|
0.00012
|
NM_004612.4(TGFBR1):c.*1759C>A
|
rs183812806
|
0.00012
|
NM_004612.4(TGFBR1):c.*3382T>G
|
rs200080374
|
0.00012
|
NM_004612.4(TGFBR1):c.*913C>T
|
rs201990134
|
0.00012
|
NM_015474.4(SAMHD1):c.1393C>A (p.Gln465Lys)
|
rs142393072
|
0.00012
|
NM_018699.4(PRDM5):c.248G>A (p.Arg83His)
|
rs201945549
|
0.00012
|
NM_022168.4(IFIH1):c.2917G>A (p.Val973Met)
|
rs773526836
|
0.00012
|
NM_024529.5(CDC73):c.*1985T>A
|
rs886045726
|
0.00012
|
NM_030777.4(SLC2A10):c.*191C>T
|
rs774020636
|
0.00012
|
NM_033629.6(TREX1):c.914A>G (p.Tyr305Cys)
|
rs370504038
|
0.00012
|
NM_053025.4(MYLK):c.2474C>T (p.Pro825Leu)
|
rs201332554
|
0.00012
|
NM_054027.6(ANKH):c.*3548G>A
|
rs539426552
|
0.00012
|
NM_058172.6(ANTXR2):c.*1114G>A
|
rs753388642
|
0.00012
|
NM_080680.3(COL11A2):c.889G>A (p.Gly297Ser)
|
rs139116571
|
0.00012
|
NM_144687.4(NLRP12):c.2756G>A (p.Arg919Gln)
|
rs201596732
|
0.00012
|
NM_000138.5(FBN1):c.*2037T>C
|
rs544842106
|
0.00011
|
NM_000138.5(FBN1):c.*2556G>A
|
rs886051221
|
0.00011
|
NM_000138.5(FBN1):c.1323A>G (p.Pro441=)
|
rs202030761
|
0.00011
|
NM_000138.5(FBN1):c.1821T>C (p.Asp607=)
|
rs149133920
|
0.00011
|
NM_000138.5(FBN1):c.4214T>G (p.Leu1405Arg)
|
rs767606368
|
0.00011
|
NM_000138.5(FBN1):c.7560G>A (p.Thr2520=)
|
rs760425899
|
0.00011
|
NM_000243.3(MEFV):c.1171G>A (p.Asp391Asn)
|
rs764274816
|
0.00011
|
NM_000243.3(MEFV):c.1341G>C (p.Lys447Asn)
|
rs756322372
|
0.00011
|
NM_000243.3(MEFV):c.1458C>T (p.Asp486=)
|
rs147767925
|
0.00011
|
NM_000243.3(MEFV):c.1522C>G (p.Leu508Val)
|
rs199937453
|
0.00011
|
NM_000243.3(MEFV):c.2279C>T (p.Thr760Ile)
|
rs759769839
|
0.00011
|
NM_000243.3(MEFV):c.800C>T (p.Thr267Ile)
|
rs104895081
|
0.00011
|
NM_000388.4(CASR):c.854G>A (p.Arg285Gln)
|
rs200039241
|
0.00011
|
NM_000431.4(MVK):c.785C>T (p.Ala262Val)
|
rs763106439
|
0.00011
|
NM_000431.4(MVK):c.937G>A (p.Ala313Thr)
|
rs371789705
|
0.00011
|
NM_000431.4(MVK):c.975C>T (p.Arg325=)
|
rs748947620
|
0.00011
|
NM_001032283.3(TMPO):c.565+1641A>G
|
rs143232629
|
0.00011
|
NM_001042492.3(NF1):c.7354C>T (p.Arg2452Cys)
|
rs377662483
|
0.00011
|
NM_001065.4(TNFRSF1A):c.1058-6C>G
|
rs761155688
|
0.00011
|
NM_001065.4(TNFRSF1A):c.1328G>T (p.Gly443Val)
|
rs201062001
|
0.00011
|
NM_001111.5(ADAR):c.*612A>T
|
rs985271768
|
0.00011
|
NM_001111.5(ADAR):c.3401A>G (p.Tyr1134Cys)
|
rs150284449
|
0.00011
|
NM_001122681.2(SH3BP2):c.724del (p.His242fs)
|
rs747250901
|
0.00011
|
NM_001128225.3(SLC39A13):c.888C>T (p.Phe296=)
|
rs150556863
|
0.00011
|
NM_001171.6(ABCC6):c.1120C>G (p.Leu374Val)
|
rs370022963
|
0.00011
|
NM_001171.6(ABCC6):c.1465C>T (p.Arg489Trp)
|
rs754360599
|
0.00011
|
NM_001171.6(ABCC6):c.2140G>A (p.Gly714Arg)
|
rs200513114
|
0.00011
|
NM_001171.6(ABCC6):c.3802C>T (p.Arg1268Trp)
|
rs368379895
|
0.00011
|
NM_001282225.2(ADA2):c.1465G>C (p.Glu489Gln)
|
rs45497794
|
0.00011
|
NM_001367624.2(ZNF469):c.*216G>A
|
rs146964491
|
0.00011
|
NM_001367624.2(ZNF469):c.10740C>T (p.Asn3580=)
|
rs527707590
|
0.00011
|
NM_001367624.2(ZNF469):c.2693C>T (p.Pro898Leu)
|
rs754458926
|
0.00011
|
NM_001367624.2(ZNF469):c.5707C>T (p.Arg1903Cys)
|
rs757657013
|
0.00011
|
NM_001367624.2(ZNF469):c.7817A>C (p.Gln2606Pro)
|
rs529250336
|
0.00011
|
NM_001367624.2(ZNF469):c.951C>T (p.Ala317=)
|
rs561239255
|
0.00011
|
NM_001370466.1(NOD2):c.-8-2243T>C
|
rs765406921
|
0.00011
|
NM_001370466.1(NOD2):c.1709C>T (p.Ala570Val)
|
rs377554134
|
0.00011
|
NM_001370466.1(NOD2):c.2087C>T (p.Pro696Leu)
|
rs201076024
|
0.00011
|
NM_001370466.1(NOD2):c.2382-9T>A
|
rs201759367
|
0.00011
|
NM_001370466.1(NOD2):c.2840C>T (p.Ser947Phe)
|
rs200463498
|
0.00011
|
NM_001375808.2(LPIN2):c.1169-3C>T
|
rs200259086
|
0.00011
|
NM_001375808.2(LPIN2):c.2371C>T (p.Leu791=)
|
rs373520277
|
0.00011
|
NM_001375808.2(LPIN2):c.2657C>T (p.Pro886Leu)
|
rs147203309
|
0.00011
|
NM_001457.4(FLNB):c.3476C>T (p.Ser1159Leu)
|
rs201254275
|
0.00011
|
NM_001558.4(IL10RA):c.931T>C (p.Leu311=)
|
rs148808529
|
0.00011
|
NM_001853.4(COL9A3):c.245C>T (p.Pro82Leu)
|
rs199653123
|
0.00011
|
NM_001972.4(ELANE):c.217G>A (p.Ala73Thr)
|
rs201421847
|
0.00011
|
NM_002474.3(MYH11):c.4861A>C (p.Lys1621Gln)
|
rs34321232
|
0.00011
|
NM_002904.6(NELFE):c.-37C>T
|
rs886061298
|
0.00011
|
NM_003036.4(SKI):c.1309G>A (p.Ala437Thr)
|
rs544709718
|
0.00011
|
NM_003183.6(ADAM17):c.46C>G (p.Leu16Val)
|
rs768569416
|
0.00011
|
NM_003239.5(TGFB3):c.757G>A (p.Val253Met)
|
rs532517095
|
0.00011
|
NM_003977.4(AIP):c.974G>A (p.Arg325Gln)
|
rs754619109
|
0.00011
|
NM_003978.5(PSTPIP1):c.*122G>A
|
rs527679453
|
0.00011
|
NM_003978.5(PSTPIP1):c.516G>A (p.Lys172=)
|
rs887917369
|
0.00011
|
NM_003982.4(SLC7A7):c.475C>T (p.Arg159Cys)
|
rs11568437
|
0.00011
|
NM_004364.5(CEBPA):c.709C>A (p.Pro237Thr)
|
rs921077083
|
0.00011
|
NM_004612.4(TGFBR1):c.*2410C>T
|
rs200722893
|
0.00011
|
NM_004612.4(TGFBR1):c.120C>T (p.Leu40=)
|
rs201267786
|
0.00011
|
NM_004944.4(DNASE1L3):c.437T>C (p.Val146Ala)
|
rs201928908
|
0.00011
|
NM_005546.4(ITK):c.1792-4C>T
|
rs201859710
|
0.00011
|
NM_006397.3(RNASEH2A):c.199+8C>G
|
rs200834484
|
0.00011
|
NM_006397.3(RNASEH2A):c.36C>T (p.Gly12=)
|
rs375139492
|
0.00011
|
NM_006929.5(SKIC2):c.1120C>T (p.Arg374Ter)
|
rs200818962
|
0.00011
|
NM_012275.3(IL36RN):c.227C>T (p.Pro76Leu)
|
rs139497891
|
0.00011
|
NM_012275.3(IL36RN):c.451T>A (p.Phe151Ile)
|
rs545202535
|
0.00011
|
NM_015474.4(SAMHD1):c.195G>T (p.Leu65=)
|
rs202024857
|
0.00011
|
NM_015474.4(SAMHD1):c.697-11A>G
|
rs200458478
|
0.00011
|
NM_018699.4(PRDM5):c.544C>T (p.Leu182Phe)
|
rs199602365
|
0.00011
|
NM_021625.5(TRPV4):c.1311G>C (p.Leu437=)
|
rs148225182
|
0.00011
|
NM_022124.6(CDH23):c.1672G>A (p.Val558Met)
|
rs780661396
|
0.00011
|
NM_022124.6(CDH23):c.1919C>T (p.Thr640Met)
|
rs199796910
|
0.00011
|
NM_022124.6(CDH23):c.5363C>T (p.Pro1788Leu)
|
rs564555435
|
0.00011
|
NM_022124.6(CDH23):c.6869C>T (p.Thr2290Met)
|
rs370912192
|
0.00011
|
NM_022124.6(CDH23):c.7552G>A (p.Val2518Met)
|
rs376617494
|
0.00011
|
NM_022168.4(IFIH1):c.1793G>A (p.Arg598His)
|
rs200945986
|
0.00011
|
NM_022455.5(NSD1):c.1478C>T (p.Pro493Leu)
|
rs140583358
|
0.00011
|
NM_024408.4(NOTCH2):c.4114C>T (p.Arg1372Trp)
|
rs587778575
|
0.00011
|
NM_024570.4(RNASEH2B):c.41G>A (p.Arg14Gln)
|
rs988134864
|
0.00011
|
NM_025132.4(WDR19):c.1249+9A>G
|
rs201377206
|
0.00011
|
NM_025132.4(WDR19):c.3683C>G (p.Ala1228Gly)
|
rs201051877
|
0.00011
|
NM_025132.4(WDR19):c.689A>C (p.Asp230Ala)
|
rs202232525
|
0.00011
|
NM_030777.4(SLC2A10):c.*116C>T
|
rs377528530
|
0.00011
|
NM_030777.4(SLC2A10):c.1204G>A (p.Ala402Thr)
|
rs147710229
|
0.00011
|
NM_031229.4(RBCK1):c.1040C>G (p.Pro347Arg)
|
rs370963132
|
0.00011
|
NM_031229.4(RBCK1):c.1090C>T (p.Arg364Cys)
|
rs144018482
|
0.00011
|
NM_032638.5(GATA2):c.30G>T (p.Trp10Cys)
|
rs367785289
|
0.00011
|
NM_054027.6(ANKH):c.*2017G>A
|
rs759890855
|
0.00011
|
NM_054027.6(ANKH):c.*3752G>A
|
rs896227717
|
0.00011
|
NM_054027.6(ANKH):c.*5912T>A
|
rs886060068
|
0.00011
|
NM_058172.6(ANTXR2):c.*1133G>A
|
rs928832669
|
0.00011
|
NM_144687.4(NLRP12):c.154G>A (p.Gly52Ser)
|
rs369053968
|
0.00011
|
NM_144687.4(NLRP12):c.2243+6T>C
|
rs199816769
|
0.00011
|
NM_144687.4(NLRP12):c.2761G>C (p.Gly921Arg)
|
rs199980950
|
0.00011
|
NM_144687.4(NLRP12):c.3128C>T (p.Thr1043Ile)
|
rs143874173
|
0.00011
|
NM_144687.4(NLRP12):c.536C>T (p.Thr179Ile)
|
rs145156267
|
0.00011
|
NM_173842.3(IL1RN):c.529G>A (p.Glu177Lys)
|
rs114929884
|
0.00011
|
NM_199242.3(UNC13D):c.2973G>A (p.Pro991=)
|
rs564875531
|
0.00011
|
NM_207122.2(EXT2):c.*440A>G
|
rs529075674
|
0.00011
|
NM_212482.4(FN1):c.2879C>G (p.Thr960Ser)
|
rs565714281
|
0.00011
|
NM_000081.4(LYST):c.8779A>T (p.Ile2927Phe)
|
rs554841002
|
0.00010
|
NM_000093.5(COL5A1):c.1350C>T (p.Gly450=)
|
rs576332528
|
0.00010
|
NM_000243.3(MEFV):c.1043G>A (p.Arg348His)
|
rs104895198
|
0.00010
|
NM_000302.4(PLOD1):c.1117C>T (p.Arg373Cys)
|
rs750301725
|
0.00010
|
NM_001065.4(TNFRSF1A):c.249G>A (p.Glu83=)
|
rs104895265
|
0.00010
|
NM_001111.5(ADAR):c.*323G>C
|
rs886045334
|
0.00010
|
NM_001111.5(ADAR):c.*60G>A
|
rs772429851
|
0.00010
|
NM_001111.5(ADAR):c.656G>C (p.Gly219Ala)
|
rs139471471
|
0.00010
|
NM_001122681.2(SH3BP2):c.*3383C>T
|
rs886059375
|
0.00010
|
NM_001122681.2(SH3BP2):c.1464G>T (p.Arg488=)
|
rs144848283
|
0.00010
|
NM_001122681.2(SH3BP2):c.506C>T (p.Thr169Met)
|
rs201786792
|
0.00010
|
NM_001122681.2(SH3BP2):c.628C>T (p.Pro210Ser)
|
rs777085450
|
0.00010
|
NM_001122681.2(SH3BP2):c.817A>G (p.Thr273Ala)
|
rs373481284
|
0.00010
|
NM_001122681.2(SH3BP2):c.950C>T (p.Thr317Ile)
|
rs371366593
|
0.00010
|
NM_001243133.2(NLRP3):c.2686T>C (p.Ser896Pro)
|
rs151205016
|
0.00010
|
NM_001243133.2(NLRP3):c.944C>T (p.Pro315Leu)
|
rs180177462
|
0.00010
|
NM_001282225.2(ADA2):c.104C>T (p.Ala35Val)
|
rs151283756
|
0.00010
|
NM_001282225.2(ADA2):c.1373T>G (p.Val458Gly)
|
rs748893301
|
0.00010
|
NM_001366385.1(CARD14):c.496C>T (p.Arg166Cys)
|
rs751727290
|
0.00010
|
NM_001367624.2(ZNF469):c.402C>T (p.Asp134=)
|
rs569036398
|
0.00010
|
NM_001370466.1(NOD2):c.2099C>T (p.Pro700Leu)
|
rs104895489
|
0.00010
|
NM_001370466.1(NOD2):c.233C>T (p.Ala78Val)
|
rs202052365
|
0.00010
|
NM_001370466.1(NOD2):c.332G>A (p.Arg111Gln)
|
rs104895456
|
0.00010
|
NM_001375808.2(LPIN2):c.*155G>C
|
rs1470550539
|
0.00010
|
NM_001375808.2(LPIN2):c.*778C>T
|
rs924335721
|
0.00010
|
NM_001375808.2(LPIN2):c.192+3G>A
|
rs377113126
|
0.00010
|
NM_001375808.2(LPIN2):c.2658G>A (p.Pro886=)
|
rs371358114
|
0.00010
|
NM_001558.4(IL10RA):c.1432G>A (p.Gly478Arg)
|
rs755271070
|
0.00010
|
NM_001611.5(ACP5):c.694G>A (p.Gly232Arg)
|
rs374180791
|
0.00010
|
NM_001611.5(ACP5):c.971G>A (p.Arg324Lys)
|
rs145265651
|
0.00010
|
NM_001853.4(COL9A3):c.1987G>A (p.Asp663Asn)
|
rs149805455
|
0.00010
|
NM_001999.4(FBN2):c.5983G>A (p.Gly1995Ser)
|
rs145588052
|
0.00010
|
NM_002451.4(MTAP):c.*102A>G
|
rs755040797
|
0.00010
|
NM_002661.5(PLCG2):c.2581+4C>T
|
rs374905431
|
0.00010
|
NM_003238.6(TGFB2):c.*589C>A
|
rs886045981
|
0.00010
|
NM_003242.5(TGFBR2):c.-371A>C
|
rs886058297
|
0.00010
|
NM_003242.6(TGFBR2):c.367A>T (p.Met123Leu)
|
rs768385200
|
0.00010
|
NM_004273.5(CHST3):c.*4498A>G
|
rs552578786
|
0.00010
|
NM_004371.4(COPA):c.2263+5G>A
|
rs369758843
|
0.00010
|
NM_004612.4(TGFBR1):c.*4293A>G
|
rs201453868
|
0.00010
|
NM_004944.4(DNASE1L3):c.577G>A (p.Gly193Ser)
|
rs200457209
|
0.00010
|
NM_004944.4(DNASE1L3):c.671C>T (p.Thr224Met)
|
rs769575190
|
0.00010
|
NM_006397.3(RNASEH2A):c.79G>C (p.Glu27Gln)
|
rs770044946
|
0.00010
|
NM_012275.3(IL36RN):c.142C>T (p.Arg48Trp)
|
rs151325121
|
0.00010
|
NM_018699.4(PRDM5):c.*154A>T
|
rs181244989
|
0.00010
|
NM_022124.6(CDH23):c.3115G>A (p.Val1039Met)
|
rs781597943
|
0.00010
|
NM_022124.6(CDH23):c.5228C>A (p.Thr1743Asn)
|
rs191021194
|
0.00010
|
NM_023110.3(FGFR1):c.231C>G (p.Asn77Lys)
|
rs767195580
|
0.00010
|
NM_024408.4(NOTCH2):c.3916G>A (p.Asp1306Asn)
|
rs116408209
|
0.00010
|
NM_024408.4(NOTCH2):c.3995G>A (p.Arg1332His)
|
rs587609362
|
0.00010
|
NM_024529.5(CDC73):c.*2420A>C
|
rs536960020
|
0.00010
|
NM_024529.5(CDC73):c.-30C>T
|
rs770313192
|
0.00010
|
NM_030777.4(SLC2A10):c.1208G>A (p.Arg403Gln)
|
rs199912561
|
0.00010
|
NM_030777.4(SLC2A10):c.330C>T (p.Phe110=)
|
rs199848479
|
0.00010
|
NM_030777.4(SLC2A10):c.394C>T (p.Arg132Trp)
|
rs121908173
|
0.00010
|
NM_031229.4(RBCK1):c.1189G>A (p.Val397Ile)
|
rs538961301
|
0.00010
|
NM_033629.6(TREX1):c.312G>C (p.Leu104=)
|
rs56162833
|
0.00010
|
NM_054027.6(ANKH):c.*2236G>A
|
rs201439698
|
0.00010
|
NM_058172.6(ANTXR2):c.*4703T>A
|
rs199645652
|
0.00010
|
NM_144687.4(NLRP12):c.1820A>C (p.Gln607Pro)
|
rs370229918
|
0.00010
|
NM_144687.4(NLRP12):c.236G>A (p.Arg79Gln)
|
rs144936138
|
0.00010
|
NM_144687.4(NLRP12):c.2960G>A (p.Cys987Tyr)
|
rs369502542
|
0.00010
|
NM_144687.4(NLRP12):c.986G>A (p.Arg329Gln)
|
rs144287432
|
0.00010
|
NM_173842.3(IL1RN):c.379C>T (p.Arg127Cys)
|
rs148520303
|
0.00010
|
NM_173842.3(IL1RN):c.496G>A (p.Val166Ile)
|
rs143208167
|
0.00010
|
NM_199242.3(UNC13D):c.1626G>A (p.Thr542=)
|
rs371924071
|
0.00010
|
NM_207122.2(EXT2):c.*731A>G
|
rs886048281
|
0.00010
|
NM_207122.2(EXT2):c.1916C>T (p.Thr639Met)
|
rs138722406
|
0.00010
|
NM_212482.4(FN1):c.3020A>G (p.Asn1007Ser)
|
rs145838840
|
0.00010
|
NM_212482.4(FN1):c.3130G>A (p.Val1044Met)
|
rs34043251
|
0.00010
|
NM_212482.4(FN1):c.869G>A (p.Arg290His)
|
rs150990682
|
0.00010
|
NM_000081.4(LYST):c.9327T>A (p.Asp3109Glu)
|
rs1413246726
|
0.00009
|
NM_000089.4(COL1A2):c.395G>A (p.Arg132His)
|
rs372678526
|
0.00009
|
NM_000112.4(SLC26A2):c.1487G>A (p.Arg496His)
|
rs150314895
|
0.00009
|
NM_000127.3(EXT1):c.-536G>A
|
rs780662536
|
0.00009
|
NM_000127.3(EXT1):c.122G>A (p.Ser41Asn)
|
rs199862937
|
0.00009
|
NM_000127.3(EXT1):c.1674A>G (p.Thr558=)
|
rs202051061
|
0.00009
|
NM_000138.5(FBN1):c.*1981C>T
|
rs1054860347
|
0.00009
|
NM_000138.5(FBN1):c.*2044C>T
|
rs561911965
|
0.00009
|
NM_000138.5(FBN1):c.1345G>A (p.Val449Ile)
|
rs139058991
|
0.00009
|
NM_000138.5(FBN1):c.3337+11G>A
|
rs368726848
|
0.00009
|
NM_000138.5(FBN1):c.4342G>A (p.Asp1448Asn)
|
rs371377334
|
0.00009
|
NM_000138.5(FBN1):c.7660C>T (p.Arg2554Trp)
|
rs369294972
|
0.00009
|
NM_000138.5(FBN1):c.7846A>G (p.Ile2616Val)
|
rs143677764
|
0.00009
|
NM_000138.5(FBN1):c.8141C>T (p.Ala2714Val)
|
rs772795413
|
0.00009
|
NM_000243.3(MEFV):c.1984A>G (p.Lys662Glu)
|
rs1348832741
|
0.00009
|
NM_000243.3(MEFV):c.198C>T (p.Ala66=)
|
rs149380763
|
0.00009
|
NM_000243.3(MEFV):c.959G>C (p.Gly320Ala)
|
rs374412819
|
0.00009
|
NM_000302.4(PLOD1):c.*721T>G
|
rs142707437
|
0.00009
|
NM_000302.4(PLOD1):c.1097C>T (p.Ala366Val)
|
rs377080927
|
0.00009
|
NM_000302.4(PLOD1):c.1203-3C>T
|
rs376288573
|
0.00009
|
NM_000302.4(PLOD1):c.124C>T (p.Arg42Cys)
|
rs202003686
|
0.00009
|
NM_000302.4(PLOD1):c.1303G>A (p.Val435Met)
|
rs752708558
|
0.00009
|
NM_000302.4(PLOD1):c.1650G>A (p.Thr550=)
|
rs201999965
|
0.00009
|
NM_000388.4(CASR):c.-137C>T
|
rs201074178
|
0.00009
|
NM_000388.4(CASR):c.1510G>A (p.Val504Met)
|
rs201536450
|
0.00009
|
NM_000431.4(MVK):c.361C>T (p.Arg121Trp)
|
rs368026034
|
0.00009
|
NM_000431.4(MVK):c.591C>T (p.His197=)
|
rs104895329
|
0.00009
|
NM_000628.5(IL10RB):c.548C>G (p.Pro183Arg)
|
rs141328537
|
0.00009
|
NM_001032283.3(TMPO):c.164C>T (p.Ala55Val)
|
rs756232510
|
0.00009
|
NM_001032283.3(TMPO):c.565+1531C>T
|
rs199943517
|
0.00009
|
NM_001042492.3(NF1):c.5513C>G (p.Ser1838Cys)
|
rs368654378
|
0.00009
|
NM_001083116.3(PRF1):c.1350G>A (p.Thr450=)
|
rs200312496
|
0.00009
|
NM_001084.5(PLOD3):c.670G>C (p.Gly224Arg)
|
rs377578690
|
0.00009
|
NM_001111.5(ADAR):c.1392T>C (p.Asn464=)
|
rs370763473
|
0.00009
|
NM_001111.5(ADAR):c.2762+6C>T
|
rs371450928
|
0.00009
|
NM_001111.5(ADAR):c.865G>A (p.Asp289Asn)
|
rs372242904
|
0.00009
|
NM_001122681.2(SH3BP2):c.1488+6C>T
|
rs548212932
|
0.00009
|
NM_001122681.2(SH3BP2):c.587-3C>A
|
rs368839407
|
0.00009
|
NM_001171.6(ABCC6):c.1963C>A (p.Gln655Lys)
|
rs369410139
|
0.00009
|
NM_001171.6(ABCC6):c.2415A>G (p.Thr805=)
|
rs748500639
|
0.00009
|
NM_001171.6(ABCC6):c.2660G>A (p.Arg887His)
|
rs201334880
|
0.00009
|
NM_001171.6(ABCC6):c.2782G>A (p.Gly928Ser)
|
rs142470921
|
0.00009
|
NM_001171.6(ABCC6):c.4070G>A (p.Arg1357Gln)
|
rs201275608
|
0.00009
|
NM_001243133.2(NLRP3):c.1936G>T (p.Asp646Tyr)
|
rs138061418
|
0.00009
|
NM_001243133.2(NLRP3):c.2120C>A (p.Pro707Gln)
|
rs200378519
|
0.00009
|
NM_001243133.2(NLRP3):c.526C>T (p.Arg176Trp)
|
rs201867990
|
0.00009
|
NM_001282225.2(ADA2):c.1013A>G (p.Lys338Arg)
|
rs573337330
|
0.00009
|
NM_001282225.2(ADA2):c.632T>A (p.Phe211Tyr)
|
rs373928007
|
0.00009
|
NM_001282225.2(ADA2):c.687C>T (p.Phe229=)
|
rs2231488
|
0.00009
|
NM_001367624.2(ZNF469):c.*492G>A
|
rs190108769
|
0.00009
|
NM_001367624.2(ZNF469):c.11545C>T (p.Arg3849Trp)
|
rs770109867
|
0.00009
|
NM_001367624.2(ZNF469):c.3452C>T (p.Ala1151Val)
|
rs755348435
|
0.00009
|
NM_001367624.2(ZNF469):c.5145G>A (p.Arg1715=)
|
rs577775261
|
0.00009
|
NM_001367624.2(ZNF469):c.9921G>A (p.Thr3307=)
|
rs533072680
|
0.00009
|
NM_001370466.1(NOD2):c.*1013A>G
|
rs549273021
|
0.00009
|
NM_001370466.1(NOD2):c.-7T>C
|
rs371044393
|
0.00009
|
NM_001370466.1(NOD2):c.1943C>T (p.Ala648Val)
|
rs138958152
|
0.00009
|
NM_001370466.1(NOD2):c.590C>T (p.Ala197Val)
|
rs375336137
|
0.00009
|
NM_001375808.2(LPIN2):c.*773C>T
|
rs190290283
|
0.00009
|
NM_001375808.2(LPIN2):c.*810G>A
|
rs769197357
|
0.00009
|
NM_001375808.2(LPIN2):c.1168+4A>G
|
rs368340969
|
0.00009
|
NM_001375808.2(LPIN2):c.2624C>T (p.Pro875Leu)
|
rs367929381
|
0.00009
|
NM_001457.4(FLNB):c.7794T>C (p.His2598=)
|
rs140318342
|
0.00009
|
NM_001558.4(IL10RA):c.1023C>A (p.His341Gln)
|
rs369418818
|
0.00009
|
NM_001558.4(IL10RA):c.1452G>A (p.Glu484=)
|
rs139576148
|
0.00009
|
NM_001558.4(IL10RA):c.706G>A (p.Val236Ile)
|
rs35473928
|
0.00009
|
NM_001558.4(IL10RA):c.788G>A (p.Arg263Gln)
|
rs145975996
|
0.00009
|
NM_001611.5(ACP5):c.149A>G (p.Asn50Ser)
|
rs189825826
|
0.00009
|
NM_001611.5(ACP5):c.421T>G (p.Phe141Val)
|
rs201716955
|
0.00009
|
NM_001611.5(ACP5):c.815G>A (p.Arg272His)
|
rs150107007
|
0.00009
|
NM_001844.5(COL2A1):c.3007G>A (p.Glu1003Lys)
|
rs376772481
|
0.00009
|
NM_001844.5(COL2A1):c.3047G>A (p.Arg1016Lys)
|
rs146046296
|
0.00009
|
NM_001852.4(COL9A2):c.1188G>A (p.Val396=)
|
rs201054854
|
0.00009
|
NM_001852.4(COL9A2):c.1732C>G (p.Pro578Ala)
|
rs528002132
|
0.00009
|
NM_001972.4(ELANE):c.366+9G>A
|
rs200948740
|
0.00009
|
NM_001999.4(FBN2):c.*642A>G
|
rs950545343
|
0.00009
|
NM_001999.4(FBN2):c.3013T>C (p.Leu1005=)
|
rs147633551
|
0.00009
|
NM_001999.4(FBN2):c.8239C>G (p.Leu2747Val)
|
rs145353444
|
0.00009
|
NM_001999.4(FBN2):c.8376C>G (p.Ile2792Met)
|
rs142747169
|
0.00009
|
NM_002451.4(MTAP):c.*2638G>A
|
rs556394357
|
0.00009
|
NM_002451.4(MTAP):c.*2660C>A
|
rs78176424
|
0.00009
|
NM_002609.4(PDGFRB):c.2464-3C>T
|
rs571983343
|
0.00009
|
NM_002661.5(PLCG2):c.1934+4C>T
|
rs370532346
|
0.00009
|
NM_003183.6(ADAM17):c.70C>G (p.Pro24Ala)
|
rs748048199
|
0.00009
|
NM_003238.6(TGFB2):c.*1428T>C
|
rs770610828
|
0.00009
|
NM_003238.6(TGFB2):c.*2352T>G
|
rs537275941
|
0.00009
|
NM_003239.5(TGFB3):c.813G>C (p.Lys271Asn)
|
rs147601018
|
0.00009
|
NM_003977.4(AIP):c.827C>T (p.Ala276Val)
|
rs61741147
|
0.00009
|
NM_003978.5(PSTPIP1):c.429A>T (p.Thr143=)
|
rs1141040
|
0.00009
|
NM_003978.5(PSTPIP1):c.5T>C (p.Met2Thr)
|
rs541085532
|
0.00009
|
NM_003978.5(PSTPIP1):c.839C>T (p.Ala280Val)
|
rs139351566
|
0.00009
|
NM_003982.4(SLC7A7):c.1128A>C (p.Glu376Asp)
|
rs139619724
|
0.00009
|
NM_004273.5(CHST3):c.*4336A>G
|
rs569758444
|
0.00009
|
NM_004273.5(CHST3):c.*4409C>T
|
rs754282055
|
0.00009
|
NM_004364.5(CEBPA):c.277G>A (p.Ala93Thr)
|
rs758092761
|
0.00009
|
NM_004371.4(COPA):c.778C>T (p.Arg260Cys)
|
rs773636602
|
0.00009
|
NM_004944.4(DNASE1L3):c.803C>G (p.Ala268Gly)
|
rs113005222
|
0.00009
|
NM_005373.3(MPL):c.1610G>A (p.Arg537Gln)
|
rs3820551
|
0.00009
|
NM_005373.3(MPL):c.313T>C (p.Phe105Leu)
|
rs145313814
|
0.00009
|
NM_005902.4(SMAD3):c.885G>A (p.Arg295=)
|
rs139616052
|
0.00009
|
NM_006397.3(RNASEH2A):c.746C>T (p.Ala249Val)
|
rs758719669
|
0.00009
|
NM_007194.4(CHEK2):c.556A>C (p.Asn186His)
|
rs146198085
|
0.00009
|
NM_007194.4(CHEK2):c.751A>T (p.Ile251Phe)
|
rs587780189
|
0.00009
|
NM_012275.3(IL36RN):c.244-6C>T
|
rs374849220
|
0.00009
|
NM_012275.3(IL36RN):c.308G>A (p.Arg103Gln)
|
rs542606182
|
0.00009
|
NM_014639.4(SKIC3):c.4000A>G (p.Thr1334Ala)
|
rs186169356
|
0.00009
|
NM_015474.4(SAMHD1):c.1583G>A (p.Arg528Lys)
|
rs199896513
|
0.00009
|
NM_015474.4(SAMHD1):c.167G>A (p.Arg56His)
|
rs147891080
|
0.00009
|
NM_018699.4(PRDM5):c.1722G>A (p.Gln574=)
|
rs147796327
|
0.00009
|
NM_022124.6(CDH23):c.1213G>A (p.Val405Ile)
|
rs370549448
|
0.00009
|
NM_022124.6(CDH23):c.1282G>A (p.Asp428Asn)
|
rs188376296
|
0.00009
|
NM_022124.6(CDH23):c.3262G>A (p.Val1088Met)
|
rs200632520
|
0.00009
|
NM_022168.4(IFIH1):c.454-1G>T
|
rs148590996
|
0.00009
|
NM_022168.4(IFIH1):c.527A>G (p.Asn176Ser)
|
rs374205118
|
0.00009
|
NM_022168.4(IFIH1):c.556C>T (p.Arg186Cys)
|
rs180843163
|
0.00009
|
NM_023110.3(FGFR1):c.1520G>A (p.Arg507His)
|
rs369356672
|
0.00009
|
NM_024408.4(NOTCH2):c.2785G>A (p.Gly929Arg)
|
rs199585130
|
0.00009
|
NM_024408.4(NOTCH2):c.3878G>A (p.Arg1293His)
|
rs201968231
|
0.00009
|
NM_024408.4(NOTCH2):c.7190C>G (p.Ala2397Gly)
|
rs143197714
|
0.00009
|
NM_024529.4(CDC73):c.-190G>C
|
rs886045709
|
0.00009
|
NM_024529.5(CDC73):c.*1499T>A
|
rs138503809
|
0.00009
|
NM_024570.4(RNASEH2B):c.*76T>A
|
rs750903767
|
0.00009
|
NM_024570.4(RNASEH2B):c.563G>A (p.Arg188Gln)
|
rs138649673
|
0.00009
|
NM_030777.4(SLC2A10):c.*2203C>A
|
rs528071290
|
0.00009
|
NM_030777.4(SLC2A10):c.1225C>T (p.Arg409Cys)
|
rs562212724
|
0.00009
|
NM_030777.4(SLC2A10):c.1412-3C>T
|
rs374857656
|
0.00009
|
NM_031229.4(RBCK1):c.1337G>A (p.Arg446His)
|
rs150032325
|
0.00009
|
NM_032638.5(GATA2):c.445G>A (p.Gly149Arg)
|
rs753645971
|
0.00009
|
NM_032638.5(GATA2):c.829A>G (p.Ser277Gly)
|
rs141800945
|
0.00009
|
NM_033629.6(TREX1):c.623G>C (p.Cys208Ser)
|
rs146524913
|
0.00009
|
NM_033629.6(TREX1):c.728C>G (p.Pro243Arg)
|
rs776094274
|
0.00009
|
NM_033629.6(TREX1):c.923C>G (p.Ser308Cys)
|
rs769885715
|
0.00009
|
NM_054027.6(ANKH):c.*1754G>A
|
rs971385670
|
0.00009
|
NM_054027.6(ANKH):c.*5930C>T
|
rs747178382
|
0.00009
|
NM_058172.6(ANTXR2):c.*4264T>A
|
rs1055536755
|
0.00009
|
NM_058172.6(ANTXR2):c.-505G>C
|
rs780730755
|
0.00009
|
NM_080628.3(TLDC2):c.*18-292C>T
|
rs886056646
|
0.00009
|
NM_144687.4(NLRP12):c.1349C>T (p.Pro450Leu)
|
rs143640165
|
0.00009
|
NM_144687.4(NLRP12):c.2165G>A (p.Arg722Gln)
|
rs199475868
|
0.00009
|
NM_144687.4(NLRP12):c.2575C>T (p.Arg859Trp)
|
rs573629753
|
0.00009
|
NM_144687.4(NLRP12):c.2831G>A (p.Arg944Gln)
|
rs200742741
|
0.00009
|
NM_173842.3(IL1RN):c.*605T>C
|
rs965074033
|
0.00009
|
NM_173842.3(IL1RN):c.476C>T (p.Thr159Ile)
|
rs550154177
|
0.00009
|
NM_183235.3(RAB27A):c.172C>T (p.Pro58Ser)
|
rs201284258
|
0.00009
|
NM_183235.3(RAB27A):c.543A>G (p.Ile181Met)
|
rs139025012
|
0.00009
|
NM_198253.3(TERT):c.3268G>A (p.Val1090Met)
|
rs121918664
|
0.00009
|
NM_198282.4(STING1):c.142G>T (p.Val48Leu)
|
rs902177158
|
0.00009
|
NM_198282.4(STING1):c.929G>A (p.Arg310His)
|
rs144683867
|
0.00009
|
NM_207122.2(EXT2):c.283C>T (p.Arg95Cys)
|
rs376292686
|
0.00009
|
NM_212482.4(FN1):c.5741C>A (p.Thr1914Lys)
|
rs765428225
|
0.00009
|
NM_000038.6(APC):c.6724A>G (p.Ser2242Gly)
|
rs201375478
|
0.00008
|
NM_000093.5(COL5A1):c.4307C>T (p.Pro1436Leu)
|
rs752334702
|
0.00008
|
NM_000138.5(FBN1):c.2294-14C>G
|
rs201446948
|
0.00008
|
NM_000138.5(FBN1):c.3226A>C (p.Ile1076Leu)
|
rs201156527
|
0.00008
|
NM_000138.5(FBN1):c.5297-19A>G
|
rs375665466
|
0.00008
|
NM_000138.5(FBN1):c.6038-15_6038-14del
|
rs752198920
|
0.00008
|
NM_000138.5(FBN1):c.7379A>G (p.Lys2460Arg)
|
rs144189837
|
0.00008
|
NM_000243.3(MEFV):c.765A>G (p.Ala255=)
|
rs771714168
|
0.00008
|
NM_000388.4(CASR):c.1188A>G (p.Thr396=)
|
rs200312817
|
0.00008
|
NM_000435.3(NOTCH3):c.3227G>A (p.Arg1076His)
|
rs771803651
|
0.00008
|
NM_000628.5(IL10RB):c.*536G>T
|
rs750248101
|
0.00008
|
NM_001032283.3(TMPO):c.565+1617A>G
|
rs771185259
|
0.00008
|
NM_001042492.3(NF1):c.8105A>T (p.Tyr2702Phe)
|
rs201824349
|
0.00008
|
NM_001122681.2(SH3BP2):c.1350+6G>A
|
rs766189842
|
0.00008
|
NM_001171.6(ABCC6):c.2059G>A (p.Val687Met)
|
rs368806440
|
0.00008
|
NM_001171.6(ABCC6):c.2635G>A (p.Ala879Thr)
|
rs377008733
|
0.00008
|
NM_001189.4(NKX3-2):c.179C>T (p.Ala60Val)
|
rs536700699
|
0.00008
|
NM_001199138.2(NLRC4):c.3062T>A (p.Leu1021Gln)
|
rs200098511
|
0.00008
|
NM_001282225.2(ADA2):c.754-5C>T
|
rs530979152
|
0.00008
|
NM_001366385.1(CARD14):c.1012A>G (p.Met338Val)
|
rs200132496
|
0.00008
|
NM_001367624.2(ZNF469):c.11164G>A (p.Ala3722Thr)
|
rs549874193
|
0.00008
|
NM_001367624.2(ZNF469):c.3506C>T (p.Pro1169Leu)
|
rs769853271
|
0.00008
|
NM_001367624.2(ZNF469):c.4972T>A (p.Trp1658Arg)
|
rs554985503
|
0.00008
|
NM_001367624.2(ZNF469):c.609C>A (p.Pro203=)
|
rs886052390
|
0.00008
|
NM_001367624.2(ZNF469):c.7195C>T (p.Pro2399Ser)
|
rs759032227
|
0.00008
|
NM_001367624.2(ZNF469):c.8387C>G (p.Pro2796Arg)
|
rs886052412
|
0.00008
|
NM_001367624.2(ZNF469):c.8801T>A (p.Leu2934Gln)
|
rs764531239
|
0.00008
|
NM_001367624.2(ZNF469):c.942G>A (p.Pro314=)
|
rs767588443
|
0.00008
|
NM_001370466.1(NOD2):c.1745T>G (p.Phe582Cys)
|
rs777798807
|
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_001375808.2(LPIN2):c.*984T>C
|
rs546238775
|
0.00008
|
NM_001375808.2(LPIN2):c.1395C>T (p.Asp465=)
|
rs143562359
|
0.00008
|
NM_001375808.2(LPIN2):c.2566C>G (p.Leu856Val)
|
rs200839841
|
0.00008
|
NM_001611.5(ACP5):c.290G>A (p.Arg97His)
|
rs777140546
|
0.00008
|
NM_001852.4(COL9A2):c.919G>A (p.Gly307Ser)
|
rs184896618
|
0.00008
|
NM_001999.4(FBN2):c.*1118T>C
|
rs776542113
|
0.00008
|
NM_001999.4(FBN2):c.7212C>T (p.Leu2404=)
|
rs368506842
|
0.00008
|
NM_002296.4(LBR):c.991C>T (p.Leu331Phe)
|
rs201609720
|
0.00008
|
NM_002451.4(MTAP):c.*3389T>C
|
rs765432220
|
0.00008
|
NM_002661.5(PLCG2):c.2503C>A (p.Leu835Ile)
|
rs186829827
|
0.00008
|
NM_002661.5(PLCG2):c.2581+10C>G
|
rs367866295
|
0.00008
|
NM_002661.5(PLCG2):c.265C>T (p.Arg89Cys)
|
rs199638859
|
0.00008
|
NM_002661.5(PLCG2):c.3571G>C (p.Glu1191Gln)
|
rs746134531
|
0.00008
|
NM_003036.4(SKI):c.1109T>C (p.Val370Ala)
|
rs138088528
|
0.00008
|
NM_003036.4(SKI):c.242C>A (p.Pro81Gln)
|
rs542659326
|
0.00008
|
NM_003183.6(ADAM17):c.1894G>A (p.Val632Ile)
|
rs371598292
|
0.00008
|
NM_003183.6(ADAM17):c.2078G>A (p.Cys693Tyr)
|
rs375942302
|
0.00008
|
NM_003238.6(TGFB2):c.556G>A (p.Asp186Asn)
|
rs766536496
|
0.00008
|
NM_003239.5(TGFB3):c.97G>A (p.Gly33Ser)
|
rs781353815
|
0.00008
|
NM_003242.6(TGFBR2):c.125A>G (p.Asn42Ser)
|
rs1305653433
|
0.00008
|
NM_003977.4(AIP):c.205A>G (p.Lys69Glu)
|
rs141223463
|
0.00008
|
NM_003978.5(PSTPIP1):c.1045G>A (p.Ala349Thr)
|
rs187211142
|
0.00008
|
NM_003978.5(PSTPIP1):c.307C>T (p.Arg103Trp)
|
rs768395688
|
0.00008
|
NM_003978.5(PSTPIP1):c.583A>T (p.Ile195Phe)
|
rs1038499600
|
0.00008
|
NM_004239.4(TRIP11):c.2016T>A (p.Ala672=)
|
rs144317897
|
0.00008
|
NM_004304.5(ALK):c.1550A>G (p.His517Arg)
|
rs367674546
|
0.00008
|
NM_004612.4(TGFBR1):c.1210A>G (p.Met404Val)
|
rs143435050
|
0.00008
|
NM_005373.3(MPL):c.1432T>A (p.Ser478Thr)
|
rs781129632
|
0.00008
|
NM_005529.7(HSPG2):c.3651C>T (p.Ala1217=)
|
rs371519713
|
0.00008
|
NM_005529.7(HSPG2):c.9616G>A (p.Ala3206Thr)
|
rs773860532
|
0.00008
|
NM_007194.4(CHEK2):c.1111C>T (p.His371Tyr)
|
rs531398630
|
0.00008
|
NM_007194.4(CHEK2):c.134C>T (p.Thr45Met)
|
rs558321010
|
0.00008
|
NM_022124.6(CDH23):c.3397G>A (p.Glu1133Lys)
|
rs111033509
|
0.00008
|
NM_022124.6(CDH23):c.415G>A (p.Val139Ile)
|
rs771868822
|
0.00008
|
NM_022124.6(CDH23):c.9037G>A (p.Val3013Met)
|
rs369776863
|
0.00008
|
NM_024529.5(CDC73):c.876A>G (p.Arg292=)
|
rs909578765
|
0.00008
|
NM_024570.4(RNASEH2B):c.250C>G (p.Leu84Val)
|
rs143523027
|
0.00008
|
NM_024675.4(PALB2):c.1042C>A (p.Gln348Lys)
|
rs375699023
|
0.00008
|
NM_025132.4(WDR19):c.2159A>G (p.Asn720Ser)
|
rs772687020
|
0.00008
|
NM_031229.4(RBCK1):c.50G>A (p.Arg17Gln)
|
rs200757913
|
0.00008
|
NM_032193.4(RNASEH2C):c.358A>G (p.Ile120Val)
|
rs145783593
|
0.00008
|
NM_053025.4(MYLK):c.5369-10T>G
|
rs373584324
|
0.00008
|
NM_058172.6(ANTXR2):c.*380T>C
|
rs1040964075
|
0.00008
|
NM_058172.6(ANTXR2):c.*559G>A
|
rs755763454
|
0.00008
|
NM_080425.4(GNAS):c.538C>T (p.Gln180Ter)
|
rs200910410
|
0.00008
|
NM_080680.3(COL11A2):c.1378G>T (p.Gly460Trp)
|
rs200635355
|
0.00008
|
NM_144687.4(NLRP12):c.1790G>A (p.Ser597Asn)
|
rs748314396
|
0.00008
|
NM_144687.4(NLRP12):c.2147T>C (p.Ile716Thr)
|
rs201439784
|
0.00008
|
NM_144687.4(NLRP12):c.2440G>A (p.Gly814Arg)
|
rs149903344
|
0.00008
|
NM_144687.4(NLRP12):c.2854G>A (p.Asp952Asn)
|
rs140792345
|
0.00008
|
NM_173842.3(IL1RN):c.*75C>G
|
rs4252026
|
0.00008
|
NM_183235.3(RAB27A):c.-3A>C
|
rs553316776
|
0.00008
|
NM_198282.4(STING1):c.336G>A (p.Ala112=)
|
rs377104086
|
0.00008
|
NM_207122.2(EXT2):c.1372G>A (p.Ala458Thr)
|
rs146086025
|
0.00008
|
NM_207122.2(EXT2):c.1685G>A (p.Arg562Gln)
|
rs140561784
|
0.00008
|
NM_207122.2(EXT2):c.744-6T>A
|
rs755926713
|
0.00008
|
NM_000038.6(APC):c.8389A>G (p.Ser2797Gly)
|
rs147287751
|
0.00007
|
NM_000081.4(LYST):c.476G>A (p.Arg159Lys)
|
rs111806240
|
0.00007
|
NM_000089.4(COL1A2):c.1036-3T>C
|
rs370275593
|
0.00007
|
NM_000093.5(COL5A1):c.3592G>A (p.Gly1198Ser)
|
rs372499629
|
0.00007
|
NM_000093.5(COL5A1):c.4748C>T (p.Thr1583Met)
|
rs375076580
|
0.00007
|
NM_000095.3(COMP):c.11A>C (p.Asp4Ala)
|
rs370458957
|
0.00007
|
NM_000127.3(EXT1):c.-667C>G
|
rs886062643
|
0.00007
|
NM_000127.3(EXT1):c.748T>A (p.Phe250Ile)
|
rs920291906
|
0.00007
|
NM_000138.5(FBN1):c.*254C>T
|
rs886051243
|
0.00007
|
NM_000138.5(FBN1):c.2678-3C>T
|
rs747274959
|
0.00007
|
NM_000138.5(FBN1):c.2746G>A (p.Val916Met)
|
rs373644734
|
0.00007
|
NM_000138.5(FBN1):c.4582+3A>G
|
rs777845323
|
0.00007
|
NM_000138.5(FBN1):c.5963C>T (p.Thr1988Ile)
|
rs142912485
|
0.00007
|
NM_000142.5(FGFR3):c.1068G>A (p.Val356=)
|
rs201947443
|
0.00007
|
NM_000243.3(MEFV):c.*721T>A
|
rs1184351783
|
0.00007
|
NM_000243.3(MEFV):c.1958G>A (p.Arg653His)
|
rs104895085
|
0.00007
|
NM_000243.3(MEFV):c.1996A>T (p.Ile666Phe)
|
rs387907566
|
0.00007
|
NM_000243.3(MEFV):c.416C>A (p.Ala139Asp)
|
rs575678784
|
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_000246.4(CIITA):c.307C>A (p.Gln103Lys)
|
rs371519540
|
0.00007
|
NM_000302.4(PLOD1):c.1115A>G (p.Asp372Gly)
|
rs377497101
|
0.00007
|
NM_000302.4(PLOD1):c.2162C>T (p.Ala721Val)
|
rs149161535
|
0.00007
|
NM_000388.4(CASR):c.3013G>A (p.Asp1005Asn)
|
rs201990892
|
0.00007
|
NM_000393.5(COL5A2):c.3385G>A (p.Asp1129Asn)
|
rs199802059
|
0.00007
|
NM_000431.4(MVK):c.331G>A (p.Ala111Thr)
|
rs371257609
|
0.00007
|
NM_000628.5(IL10RB):c.804+8G>A
|
rs112943706
|
0.00007
|
NM_000628.5(IL10RB):c.946G>A (p.Gly316Arg)
|
rs370841672
|
0.00007
|
NM_001032283.3(TMPO):c.565+2102C>G
|
rs764177808
|
0.00007
|
NM_001065.4(TNFRSF1A):c.334G>A (p.Val112Met)
|
rs201753543
|
0.00007
|
NM_001083116.3(PRF1):c.808G>A (p.Gly270Ser)
|
rs143043887
|
0.00007
|
NM_001122681.2(SH3BP2):c.*3560C>T
|
rs766523218
|
0.00007
|
NM_001122681.2(SH3BP2):c.240-16G>A
|
rs752456141
|
0.00007
|
NM_001171.6(ABCC6):c.1324G>A (p.Val442Ile)
|
rs372059636
|
0.00007
|
NM_001171.6(ABCC6):c.2119G>A (p.Val707Met)
|
rs372121585
|
0.00007
|
NM_001199138.2(NLRC4):c.1799A>G (p.Glu600Gly)
|
rs150950016
|
0.00007
|
NM_001199138.2(NLRC4):c.2647G>A (p.Ala883Thr)
|
rs780229500
|
0.00007
|
NM_001243133.2(NLRP3):c.1317G>A (p.Ala439=)
|
rs201976178
|
0.00007
|
NM_001243133.2(NLRP3):c.2273T>C (p.Val758Ala)
|
rs770791406
|
0.00007
|
NM_001270508.2(TNFAIP3):c.742A>G (p.Ile248Val)
|
rs587778711
|
0.00007
|
NM_001367624.2(ZNF469):c.2873T>C (p.Leu958Pro)
|
rs370402083
|
0.00007
|
NM_001367624.2(ZNF469):c.4829G>A (p.Arg1610His)
|
rs567038987
|
0.00007
|
NM_001367624.2(ZNF469):c.585C>G (p.Asn195Lys)
|
rs896312288
|
0.00007
|
NM_001367624.2(ZNF469):c.6075G>A (p.Ala2025=)
|
rs373300146
|
0.00007
|
NM_001367624.2(ZNF469):c.9894C>T (p.Asp3298=)
|
rs551298094
|
0.00007
|
NM_001370466.1(NOD2):c.1528C>T (p.Pro510Ser)
|
rs767197520
|
0.00007
|
NM_001370466.1(NOD2):c.623G>A (p.Arg208His)
|
rs201790577
|
0.00007
|
NM_001370466.1(NOD2):c.638A>G (p.Tyr213Cys)
|
rs202190367
|
0.00007
|
NM_001375808.2(LPIN2):c.*1026C>T
|
rs529650414
|
0.00007
|
NM_001558.4(IL10RA):c.336C>T (p.Thr112=)
|
rs192749274
|
0.00007
|
NM_001611.5(ACP5):c.80G>A (p.Arg27His)
|
rs376043348
|
0.00007
|
NM_001844.5(COL2A1):c.2949C>T (p.Val983=)
|
rs201719788
|
0.00007
|
NM_001851.6(COL9A1):c.1946G>C (p.Gly649Ala)
|
rs201480339
|
0.00007
|
NM_001852.4(COL9A2):c.1061C>T (p.Pro354Leu)
|
rs201772619
|
0.00007
|
NM_001852.4(COL9A2):c.1282G>C (p.Asp428His)
|
rs375240237
|
0.00007
|
NM_001854.4(COL11A1):c.*9C>G
|
rs371551881
|
0.00007
|
NM_001999.4(FBN2):c.3839C>T (p.Ser1280Leu)
|
rs200481467
|
0.00007
|
NM_001999.4(FBN2):c.5495G>A (p.Arg1832His)
|
rs140276399
|
0.00007
|
NM_002451.4(MTAP):c.*1760A>G
|
rs886063788
|
0.00007
|
NM_002451.4(MTAP):c.*3057T>A
|
rs887122969
|
0.00007
|
NM_002451.4(MTAP):c.-52G>C
|
rs949068748
|
0.00007
|
NM_002451.4(MTAP):c.224A>G (p.Gln75Arg)
|
rs764365358
|
0.00007
|
NM_002661.5(PLCG2):c.1072C>T (p.Leu358=)
|
rs377757324
|
0.00007
|
NM_002661.5(PLCG2):c.3516C>T (p.Ser1172=)
|
rs773778524
|
0.00007
|
NM_002834.5(PTPN11):c.1678C>T (p.Leu560Phe)
|
rs397516797
|
0.00007
|
NM_003183.6(ADAM17):c.2174G>A (p.Arg725His)
|
rs147275585
|
0.00007
|
NM_003183.6(ADAM17):c.536A>G (p.Gln179Arg)
|
rs139401611
|
0.00007
|
NM_003238.6(TGFB2):c.*1271A>G
|
rs572446864
|
0.00007
|
NM_003242.6(TGFBR2):c.1013C>T (p.Thr338Met)
|
rs752866783
|
0.00007
|
NM_003977.4(AIP):c.572G>A (p.Arg191His)
|
rs141826817
|
0.00007
|
NM_003978.5(PSTPIP1):c.986C>T (p.Ala329Val)
|
rs369498554
|
0.00007
|
NM_004273.5(CHST3):c.*1091G>T
|
rs886047167
|
0.00007
|
NM_004273.5(CHST3):c.-265C>G
|
rs371903365
|
0.00007
|
NM_004304.5(ALK):c.3115G>A (p.Val1039Met)
|
rs200080181
|
0.00007
|
NM_004304.5(ALK):c.3160G>A (p.Gly1054Ser)
|
rs375889530
|
0.00007
|
NM_004612.4(TGFBR1):c.1285T>C (p.Tyr429His)
|
rs201745016
|
0.00007
|
NM_004752.4(GCM2):c.1063G>A (p.Ala355Thr)
|
rs764488668
|
0.00007
|
NM_004944.4(DNASE1L3):c.97G>A (p.Glu33Lys)
|
rs201136542
|
0.00007
|
NM_005546.4(ITK):c.139-6C>T
|
rs780173849
|
0.00007
|
NM_005546.4(ITK):c.768+3A>G
|
rs374214545
|
0.00007
|
NM_006397.3(RNASEH2A):c.402C>T (p.Asn134=)
|
rs778120777
|
0.00007
|
NM_006397.3(RNASEH2A):c.455G>A (p.Arg152Gln)
|
rs757486362
|
0.00007
|
NM_007194.4(CHEK2):c.1141A>G (p.Met381Val)
|
rs375130261
|
0.00007
|
NM_012275.3(IL36RN):c.230C>T (p.Thr77Ile)
|
rs372880215
|
0.00007
|
NM_012275.3(IL36RN):c.244-5G>A
|
rs754661425
|
0.00007
|
NM_012275.3(IL36RN):c.307C>T (p.Arg103Trp)
|
rs375207169
|
0.00007
|
NM_012275.3(IL36RN):c.436A>G (p.Ile146Val)
|
rs202059991
|
0.00007
|
NM_015474.4(SAMHD1):c.1325G>A (p.Arg442Gln)
|
rs775762131
|
0.00007
|
NM_015474.4(SAMHD1):c.1743G>A (p.Pro581=)
|
rs374642075
|
0.00007
|
NM_022124.6(CDH23):c.2953G>C (p.Val985Leu)
|
rs374964318
|
0.00007
|
NM_022124.6(CDH23):c.4520G>A (p.Arg1507Gln)
|
rs373480195
|
0.00007
|
NM_022124.6(CDH23):c.5653C>T (p.Arg1885Cys)
|
rs368848049
|
0.00007
|
NM_022124.6(CDH23):c.9381-123C>A
|
rs775172553
|
0.00007
|
NM_022168.4(IFIH1):c.1853G>A (p.Arg618Gln)
|
rs200017837
|
0.00007
|
NM_023110.3(FGFR1):c.1408C>T (p.Arg470Cys)
|
rs781310679
|
0.00007
|
NM_024408.4(NOTCH2):c.3143G>A (p.Arg1048His)
|
rs142831890
|
0.00007
|
NM_024408.4(NOTCH2):c.4860-3C>T
|
rs752354633
|
0.00007
|
NM_024408.4(NOTCH2):c.4922A>C (p.Lys1641Thr)
|
rs148354054
|
0.00007
|
NM_024529.5(CDC73):c.*2625A>G
|
rs531872328
|
0.00007
|
NM_024529.5(CDC73):c.1333G>A (p.Val445Ile)
|
rs368442389
|
0.00007
|
NM_024529.5(CDC73):c.648T>A (p.Ala216=)
|
rs143149579
|
0.00007
|
NM_024570.4(RNASEH2B):c.46C>T (p.His16Tyr)
|
rs763103642
|
0.00007
|
NM_031229.4(RBCK1):c.226C>T (p.Arg76Cys)
|
rs575392530
|
0.00007
|
NM_031229.4(RBCK1):c.28G>C (p.Glu10Gln)
|
rs376438608
|
0.00007
|
NM_032193.3(RNASEH2C):c.-186A>C
|
rs931060333
|
0.00007
|
NM_032638.5(GATA2):c.1367C>T (p.Pro456Leu)
|
rs372912472
|
0.00007
|
NM_033629.6(TREX1):c.651G>A (p.Arg217=)
|
rs140199177
|
0.00007
|
NM_052989.3(IFT122):c.2315T>A (p.Ile772Asn)
|
rs371325633
|
0.00007
|
NM_054027.6(ANKH):c.*793A>G
|
rs377136068
|
0.00007
|
NM_058172.6(ANTXR2):c.*1099C>T
|
rs939743640
|
0.00007
|
NM_058172.6(ANTXR2):c.*2306A>G
|
rs1003608735
|
0.00007
|
NM_058172.6(ANTXR2):c.*3843G>A
|
rs540121683
|
0.00007
|
NM_080680.3(COL11A2):c.1498C>T (p.Pro500Ser)
|
rs747029402
|
0.00007
|
NM_144687.3(NLRP12):c.*430G>A
|
rs886054602
|
0.00007
|
NM_144687.4(NLRP12):c.*126G>C
|
rs199475872
|
0.00007
|
NM_144687.4(NLRP12):c.1886C>A (p.Ala629Asp)
|
rs146250162
|
0.00007
|
NM_148919.4(PSMB8):c.386G>A (p.Arg129His)
|
rs369078226
|
0.00007
|
NM_148919.4(PSMB8):c.575G>A (p.Arg192Gln)
|
rs764672057
|
0.00007
|
NM_148919.4(PSMB8):c.731G>A (p.Gly244Asp)
|
rs200995701
|
0.00007
|
NM_173841.2(IL1RN):c.-95C>G
|
rs1458187927
|
0.00007
|
NM_198253.3(TERT):c.887A>C (p.His296Pro)
|
rs778187343
|
0.00007
|
NM_199242.3(UNC13D):c.1216G>A (p.Gly406Ser)
|
rs149099554
|
0.00007
|
NM_207122.2(EXT2):c.-45G>T
|
rs1276665372
|
0.00007
|
NM_207122.2(EXT2):c.605C>T (p.Ala202Val)
|
rs771803942
|
0.00007
|
NM_212482.4(FN1):c.1871A>G (p.Asn624Ser)
|
rs199764052
|
0.00007
|
NM_212482.4(FN1):c.3415G>A (p.Val1139Ile)
|
rs201181695
|
0.00007
|
NM_000038.6(APC):c.1193A>G (p.Lys398Arg)
|
rs145912662
|
0.00006
|
NM_000038.6(APC):c.2719G>C (p.Gly907Arg)
|
rs771458366
|
0.00006
|
NM_000077.5(CDKN2A):c.146T>C (p.Ile49Thr)
|
rs199907548
|
0.00006
|
NM_000081.4(LYST):c.5612T>C (p.Ile1871Thr)
|
rs559869925
|
0.00006
|
NM_000081.4(LYST):c.5919G>A (p.Leu1973=)
|
rs748908539
|
0.00006
|
NM_000089.4(COL1A2):c.1876G>A (p.Val626Met)
|
rs374878685
|
0.00006
|
NM_000127.3(EXT1):c.1652T>A (p.Leu551Gln)
|
rs745890180
|
0.00006
|
NM_000127.3(EXT1):c.25A>T (p.Ile9Phe)
|
rs772883826
|
0.00006
|
NM_000127.3(EXT1):c.337G>A (p.Gly113Ser)
|
rs750116273
|
0.00006
|
NM_000138.5(FBN1):c.*2592T>C
|
rs752936528
|
0.00006
|
NM_000138.5(FBN1):c.124G>C (p.Ala42Pro)
|
rs377722423
|
0.00006
|
NM_000138.5(FBN1):c.2434G>A (p.Glu812Lys)
|
rs201778577
|
0.00006
|
NM_000138.5(FBN1):c.2921G>A (p.Arg974His)
|
rs763094223
|
0.00006
|
NM_000138.5(FBN1):c.3013G>A (p.Glu1005Lys)
|
rs564713154
|
0.00006
|
NM_000138.5(FBN1):c.3197G>C (p.Arg1066Thr)
|
rs376659156
|
0.00006
|
NM_000138.5(FBN1):c.4150A>G (p.Met1384Val)
|
rs775543440
|
0.00006
|
NM_000138.5(FBN1):c.5516A>T (p.Tyr1839Phe)
|
rs758725993
|
0.00006
|
NM_000138.5(FBN1):c.5573A>G (p.Asn1858Ser)
|
rs751472490
|
0.00006
|
NM_000138.5(FBN1):c.5672-15C>G
|
rs776163620
|
0.00006
|
NM_000138.5(FBN1):c.6164-3C>T
|
rs571365493
|
0.00006
|
NM_000138.5(FBN1):c.6302C>T (p.Thr2101Met)
|
rs200816828
|
0.00006
|
NM_000138.5(FBN1):c.6577G>A (p.Glu2193Lys)
|
rs201361628
|
0.00006
|
NM_000138.5(FBN1):c.7099G>A (p.Gly2367Arg)
|
rs368978109
|
0.00006
|
NM_000138.5(FBN1):c.7412C>G (p.Pro2471Arg)
|
rs193922233
|
0.00006
|
NM_000138.5(FBN1):c.7516G>A (p.Gly2506Ser)
|
rs756295016
|
0.00006
|
NM_000138.5(FBN1):c.7999G>A (p.Glu2667Lys)
|
rs149062442
|
0.00006
|
NM_000138.5(FBN1):c.8071G>A (p.Gly2691Ser)
|
rs145105768
|
0.00006
|
NM_000138.5(FBN1):c.8300A>G (p.Asn2767Ser)
|
rs536503540
|
0.00006
|
NM_000243.3(MEFV):c.*280G>C
|
rs562541179
|
0.00006
|
NM_000243.3(MEFV):c.1129C>T (p.Arg377Cys)
|
rs896909303
|
0.00006
|
NM_000243.3(MEFV):c.116G>A (p.Arg39Lys)
|
rs141288548
|
0.00006
|
NM_000243.3(MEFV):c.1504G>A (p.Val502Ile)
|
rs140462252
|
0.00006
|
NM_000243.3(MEFV):c.1610+8G>A
|
rs765410591
|
0.00006
|
NM_000243.3(MEFV):c.1759+7C>T
|
rs772667365
|
0.00006
|
NM_000243.3(MEFV):c.1889C>T (p.Pro630Leu)
|
rs376579860
|
0.00006
|
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.289C>T (p.Gln97Ter)
|
rs747515115
|
0.00006
|
NM_000243.3(MEFV):c.549G>A (p.Pro183=)
|
rs587781035
|
0.00006
|
NM_000243.3(MEFV):c.657C>T (p.Gly219=)
|
rs104895182
|
0.00006
|
NM_000243.3(MEFV):c.796A>G (p.Lys266Glu)
|
rs755178462
|
0.00006
|
NM_000243.3(MEFV):c.866C>T (p.Ala289Val)
|
rs104895132
|
0.00006
|
NM_000246.4(CIITA):c.1556C>T (p.Pro519Leu)
|
rs141006925
|
0.00006
|
NM_000246.4(CIITA):c.3197G>A (p.Arg1066His)
|
rs142072017
|
0.00006
|
NM_000302.4(PLOD1):c.*128A>G
|
rs927504122
|
0.00006
|
NM_000302.4(PLOD1):c.*528G>A
|
rs886045215
|
0.00006
|
NM_000302.4(PLOD1):c.569C>T (p.Pro190Leu)
|
rs375416784
|
0.00006
|
NM_000302.4(PLOD1):c.683C>T (p.Ala228Val)
|
rs756600025
|
0.00006
|
NM_000302.4(PLOD1):c.764A>G (p.Asn255Ser)
|
rs538763801
|
0.00006
|
NM_000302.4(PLOD1):c.928C>T (p.Arg310Trp)
|
rs11553674
|
0.00006
|
NM_000346.4(SOX9):c.1092G>A (p.Ala364=)
|
rs754417848
|
0.00006
|
NM_000388.4(CASR):c.-111C>A
|
rs201098532
|
0.00006
|
NM_000388.4(CASR):c.2209G>A (p.Val737Ile)
|
rs200318708
|
0.00006
|
NM_000393.5(COL5A2):c.3794A>G (p.Asp1265Gly)
|
rs200325397
|
0.00006
|
NM_000431.4(MVK):c.-15G>A
|
rs567278499
|
0.00006
|
NM_000431.4(MVK):c.32C>T (p.Pro11Leu)
|
rs876661001
|
0.00006
|
NM_000431.4(MVK):c.527+10G>A
|
rs368909134
|
0.00006
|
NM_000431.4(MVK):c.889C>A (p.Leu297Ile)
|
rs1047311477
|
0.00006
|
NM_000435.3(NOTCH3):c.359C>T (p.Pro120Leu)
|
rs778715118
|
0.00006
|
NM_000435.3(NOTCH3):c.6619C>T (p.Arg2207Trp)
|
rs753170185
|
0.00006
|
NM_000628.5(IL10RB):c.*616A>G
|
rs886057009
|
0.00006
|
NM_000628.5(IL10RB):c.*761C>T
|
rs567397652
|
0.00006
|
NM_000628.5(IL10RB):c.484G>A (p.Gly162Ser)
|
rs770980693
|
0.00006
|
NM_000628.5(IL10RB):c.575G>A (p.Arg192Gln)
|
rs147402422
|
0.00006
|
NM_000628.5(IL10RB):c.646G>A (p.Glu216Lys)
|
rs45469692
|
0.00006
|
NM_000628.5(IL10RB):c.742G>A (p.Val248Ile)
|
rs777216483
|
0.00006
|
NM_001032283.3(TMPO):c.565+1213G>A
|
rs368211058
|
0.00006
|
NM_001032283.3(TMPO):c.565+1317C>T
|
rs376074187
|
0.00006
|
NM_001032283.3(TMPO):c.565+1328G>T
|
rs369208265
|
0.00006
|
NM_001032283.3(TMPO):c.565+2196A>G
|
rs369840957
|
0.00006
|
NM_001032283.3(TMPO):c.565+2361G>T
|
rs746160070
|
0.00006
|
NM_001042492.3(NF1):c.7520C>T (p.Thr2507Ile)
|
rs149055633
|
0.00006
|
NM_001065.4(TNFRSF1A):c.*195G>A
|
rs3202413
|
0.00006
|
NM_001065.4(TNFRSF1A):c.784A>G (p.Thr262Ala)
|
rs200728879
|
0.00006
|
NM_001083116.3(PRF1):c.632C>T (p.Ala211Val)
|
rs368524364
|
0.00006
|
NM_001111.5(ADAR):c.*884C>T
|
rs556661959
|
0.00006
|
NM_001111.5(ADAR):c.1192A>G (p.Asn398Asp)
|
rs371050239
|
0.00006
|
NM_001111.5(ADAR):c.1741T>C (p.Ser581Pro)
|
rs142884797
|
0.00006
|
NM_001111.5(ADAR):c.1766C>G (p.Thr589Arg)
|
rs373667326
|
0.00006
|
NM_001111.5(ADAR):c.176A>G (p.Lys59Arg)
|
rs756612053
|
0.00006
|
NM_001111.5(ADAR):c.2275G>A (p.Val759Ile)
|
rs145849344
|
0.00006
|
NM_001111.5(ADAR):c.983G>A (p.Arg328Gln)
|
rs371476324
|
0.00006
|
NM_001122681.2(SH3BP2):c.*4776T>C
|
rs886059380
|
0.00006
|
NM_001122681.2(SH3BP2):c.1150C>T (p.Arg384Trp)
|
rs529543434
|
0.00006
|
NM_001122681.2(SH3BP2):c.1192C>T (p.Arg398Trp)
|
rs745563984
|
0.00006
|
NM_001122681.2(SH3BP2):c.1232C>T (p.Pro411Leu)
|
rs376008602
|
0.00006
|
NM_001122681.2(SH3BP2):c.15G>C (p.Glu5Asp)
|
rs370829171
|
0.00006
|
NM_001122681.2(SH3BP2):c.34A>G (p.Met12Val)
|
rs148117486
|
0.00006
|
NM_001122681.2(SH3BP2):c.376C>T (p.Arg126Cys)
|
rs776243893
|
0.00006
|
NM_001122681.2(SH3BP2):c.440C>T (p.Ser147Leu)
|
rs150461713
|
0.00006
|
NM_001127671.2(LIFR):c.465A>G (p.Leu155=)
|
rs368371692
|
0.00006
|
NM_001128225.3(SLC39A13):c.1090G>T (p.Val364Leu)
|
rs542593908
|
0.00006
|
NM_001128225.3(SLC39A13):c.786+8C>T
|
rs572017658
|
0.00006
|
NM_001167.4(XIAP):c.1100A>G (p.Asp367Gly)
|
rs200273554
|
0.00006
|
NM_001171.6(ABCC6):c.1843G>A (p.Val615Ile)
|
rs372235202
|
0.00006
|
NM_001171.6(ABCC6):c.191G>A (p.Arg64Gln)
|
rs777566074
|
0.00006
|
NM_001171.6(ABCC6):c.2409G>C (p.Gln803His)
|
rs116898670
|
0.00006
|
NM_001171.6(ABCC6):c.2542del (p.Met848fs)
|
rs67867306
|
0.00006
|
NM_001171.6(ABCC6):c.2922C>A (p.Asp974Glu)
|
rs749463148
|
0.00006
|
NM_001171.6(ABCC6):c.3458G>A (p.Arg1153His)
|
rs553479685
|
0.00006
|
NM_001171.6(ABCC6):c.3691G>A (p.Val1231Met)
|
rs141728905
|
0.00006
|
NM_001171.6(ABCC6):c.3836C>T (p.Pro1279Leu)
|
rs77913024
|
0.00006
|
NM_001171.6(ABCC6):c.4210G>A (p.Val1404Met)
|
rs200485267
|
0.00006
|
NM_001171.6(ABCC6):c.4477T>C (p.Phe1493Leu)
|
rs778956327
|
0.00006
|
NM_001189.4(NKX3-2):c.261C>G (p.Ser87Arg)
|
rs756642619
|
0.00006
|
NM_001199138.2(NLRC4):c.281C>T (p.Ser94Leu)
|
rs764987185
|
0.00006
|
NM_001199397.3(NEK1):c.2474G>T (p.Gly825Val)
|
rs377203539
|
0.00006
|
NM_001243133.2(NLRP3):c.-407C>T
|
rs12741165
|
0.00006
|
NM_001243133.2(NLRP3):c.1323C>T (p.Tyr441=)
|
rs200269703
|
0.00006
|
NM_001243133.2(NLRP3):c.1361G>A (p.Gly454Glu)
|
rs199696688
|
0.00006
|
NM_001243133.2(NLRP3):c.2982G>C (p.Gln994His)
|
rs148150585
|
0.00006
|
NM_001243133.2(NLRP3):c.2987G>C (p.Cys996Ser)
|
rs199517145
|
0.00006
|
NM_001282225.2(ADA2):c.362T>C (p.Met121Thr)
|
rs189403607
|
0.00006
|
NM_001282225.2(ADA2):c.562C>G (p.Leu188Val)
|
rs765219776
|
0.00006
|
NM_001282225.2(ADA2):c.950C>T (p.Thr317Met)
|
rs146788085
|
0.00006
|
NM_001366385.1(CARD14):c.1082G>A (p.Arg361Gln)
|
rs763738345
|
0.00006
|
NM_001366385.1(CARD14):c.1356+5G>A
|
rs376524884
|
0.00006
|
NM_001366385.1(CARD14):c.1850T>C (p.Met617Thr)
|
rs145521869
|
0.00006
|
NM_001366385.1(CARD14):c.681T>G (p.Tyr227Ter)
|
rs369755459
|
0.00006
|
NM_001367624.2(ZNF469):c.11221G>A (p.Gly3741Ser)
|
rs745385522
|
0.00006
|
NM_001367624.2(ZNF469):c.1663G>A (p.Asp555Asn)
|
rs749179728
|
0.00006
|
NM_001367624.2(ZNF469):c.4574G>C (p.Ser1525Thr)
|
rs545662898
|
0.00006
|
NM_001367624.2(ZNF469):c.4771G>T (p.Ala1591Ser)
|
rs755066385
|
0.00006
|
NM_001367624.2(ZNF469):c.5779C>T (p.Pro1927Ser)
|
rs537085488
|
0.00006
|
NM_001367624.2(ZNF469):c.7062G>A (p.Thr2354=)
|
rs866760637
|
0.00006
|
NM_001367624.2(ZNF469):c.7116C>G (p.Thr2372=)
|
rs762487170
|
0.00006
|
NM_001367624.2(ZNF469):c.8458G>A (p.Gly2820Ser)
|
rs761603858
|
0.00006
|
NM_001367624.2(ZNF469):c.8806G>A (p.Glu2936Lys)
|
rs762301873
|
0.00006
|
NM_001370466.1(NOD2):c.2497G>A (p.Ala833Thr)
|
rs754270929
|
0.00006
|
NM_001370466.1(NOD2):c.2690G>A (p.Gly897Asp)
|
rs104895453
|
0.00006
|
NM_001370466.1(NOD2):c.2693A>G (p.Asp898Gly)
|
rs545734771
|
0.00006
|
NM_001370466.1(NOD2):c.2717+2T>A
|
rs1309535620
|
0.00006
|
NM_001375808.2(LPIN2):c.*1514G>C
|
rs544570644
|
0.00006
|
NM_001375808.2(LPIN2):c.*2412C>T
|
rs553336397
|
0.00006
|
NM_001375808.2(LPIN2):c.*725G>A
|
rs886053755
|
0.00006
|
NM_001375808.2(LPIN2):c.*84A>G
|
rs886053764
|
0.00006
|
NM_001375808.2(LPIN2):c.*897T>G
|
rs886053752
|
0.00006
|
NM_001375808.2(LPIN2):c.-10+1170G>A
|
rs751000184
|
0.00006
|
NM_001375808.2(LPIN2):c.1339G>A (p.Val447Met)
|
rs373758040
|
0.00006
|
NM_001375808.2(LPIN2):c.1888G>A (p.Gly630Ser)
|
rs148607670
|
0.00006
|
NM_001375808.2(LPIN2):c.2261A>G (p.Lys754Arg)
|
rs1028913918
|
0.00006
|
NM_001375808.2(LPIN2):c.2399C>T (p.Pro800Leu)
|
rs748431474
|
0.00006
|
NM_001375808.2(LPIN2):c.858G>A (p.Arg286=)
|
rs548077620
|
0.00006
|
NM_001558.4(IL10RA):c.*676C>T
|
rs756303257
|
0.00006
|
NM_001558.4(IL10RA):c.1087_1095del (p.Gly363_Ser365del)
|
rs56384274
|
0.00006
|
NM_001558.4(IL10RA):c.1538C>T (p.Thr513Met)
|
rs370255112
|
0.00006
|
NM_001558.4(IL10RA):c.289C>T (p.Arg97Trp)
|
rs374330101
|
0.00006
|
NM_001558.4(IL10RA):c.734T>C (p.Leu245Pro)
|
rs757461404
|
0.00006
|
NM_001558.4(IL10RA):c.751G>A (p.Ala251Thr)
|
rs758334771
|
0.00006
|
NM_001558.4(IL10RA):c.785G>A (p.Arg262His)
|
rs202121581
|
0.00006
|
NM_001558.4(IL10RA):c.851G>A (p.Arg284His)
|
rs576666901
|
0.00006
|
NM_001558.4(IL10RA):c.89C>T (p.Pro30Leu)
|
rs749622044
|
0.00006
|
NM_001611.5(ACP5):c.673C>T (p.Arg225Trp)
|
rs765756315
|
0.00006
|
NM_001611.5(ACP5):c.806G>A (p.Arg269Gln)
|
rs749985898
|
0.00006
|
NM_001715.3(BLK):c.1057C>T (p.Arg353Cys)
|
rs199696853
|
0.00006
|
NM_001754.5(RUNX1):c.649G>A (p.Gly217Arg)
|
rs749004431
|
0.00006
|
NM_001754.5(RUNX1):c.917G>A (p.Arg306His)
|
rs139336358
|
0.00006
|
NM_001844.5(COL2A1):c.*373G>C
|
rs990523451
|
0.00006
|
NM_001844.5(COL2A1):c.3713A>C (p.Tyr1238Ser)
|
rs199726428
|
0.00006
|
NM_001851.6(COL9A1):c.1611G>A (p.Thr537=)
|
rs529005717
|
0.00006
|
NM_001851.6(COL9A1):c.2623G>A (p.Gly875Ser)
|
rs199581593
|
0.00006
|
NM_001852.4(COL9A2):c.*230C>T
|
rs1057515525
|
0.00006
|
NM_001852.4(COL9A2):c.*683G>A
|
rs1057515565
|
0.00006
|
NM_001852.4(COL9A2):c.-27C>A
|
rs375579300
|
0.00006
|
NM_001852.4(COL9A2):c.1219C>A (p.Pro407Thr)
|
rs565855414
|
0.00006
|
NM_001852.4(COL9A2):c.2059A>G (p.Lys687Glu)
|
rs201847956
|
0.00006
|
NM_001852.4(COL9A2):c.232G>A (p.Gly78Arg)
|
rs376722979
|
0.00006
|
NM_001853.4(COL9A3):c.1906G>A (p.Gly636Ser)
|
rs34990115
|
0.00006
|
NM_001853.4(COL9A3):c.753C>G (p.Phe251Leu)
|
rs376779544
|
0.00006
|
NM_001999.4(FBN2):c.1181G>A (p.Arg394His)
|
rs150790914
|
0.00006
|
NM_001999.4(FBN2):c.2115C>G (p.Thr705=)
|
rs763844538
|
0.00006
|
NM_001999.4(FBN2):c.2508G>A (p.Thr836=)
|
rs372872626
|
0.00006
|
NM_001999.4(FBN2):c.3883G>A (p.Asp1295Asn)
|
rs759131544
|
0.00006
|
NM_001999.4(FBN2):c.4951A>G (p.Ile1651Val)
|
rs765442038
|
0.00006
|
NM_001999.4(FBN2):c.5422+6T>G
|
rs1000499022
|
0.00006
|
NM_001999.4(FBN2):c.5800+5G>A
|
rs375487064
|
0.00006
|
NM_001999.4(FBN2):c.5855T>C (p.Val1952Ala)
|
rs372879535
|
0.00006
|
NM_001999.4(FBN2):c.7808T>C (p.Phe2603Ser)
|
rs374507398
|
0.00006
|
NM_002451.4(MTAP):c.278C>T (p.Thr93Ile)
|
rs759117703
|
0.00006
|
NM_002451.4(MTAP):c.572C>T (p.Ala191Val)
|
rs200708704
|
0.00006
|
NM_002474.3(MYH11):c.3010C>G (p.Leu1004Val)
|
rs373358736
|
0.00006
|
NM_002609.4(PDGFRB):c.2705C>T (p.Thr902Ile)
|
rs200865355
|
0.00006
|
NM_002661.5(PLCG2):c.2031C>T (p.Ser677=)
|
rs759929786
|
0.00006
|
NM_002661.5(PLCG2):c.313G>A (p.Val105Ile)
|
rs754914807
|
0.00006
|
NM_002661.5(PLCG2):c.32C>T (p.Ala11Val)
|
rs753458249
|
0.00006
|
NM_002661.5(PLCG2):c.3374A>G (p.Tyr1125Cys)
|
rs374877793
|
0.00006
|
NM_002661.5(PLCG2):c.3496C>A (p.Pro1166Thr)
|
rs374517633
|
0.00006
|
NM_002661.5(PLCG2):c.3682C>T (p.Arg1228Trp)
|
rs202108152
|
0.00006
|
NM_002661.5(PLCG2):c.421A>G (p.Ile141Val)
|
rs554363067
|
0.00006
|
NM_002661.5(PLCG2):c.487C>T (p.Leu163Phe)
|
rs375598204
|
0.00006
|
NM_002834.5(PTPN11):c.1682C>T (p.Pro561Leu)
|
rs141140214
|
0.00006
|
NM_003036.4(SKI):c.2056G>A (p.Ala686Thr)
|
rs756553942
|
0.00006
|
NM_003036.4(SKI):c.247C>T (p.Pro83Ser)
|
rs201590284
|
0.00006
|
NM_003183.6(ADAM17):c.1372A>G (p.Ile458Val)
|
rs143293318
|
0.00006
|
NM_003183.6(ADAM17):c.1531G>A (p.Gly511Ser)
|
rs554069834
|
0.00006
|
NM_003183.6(ADAM17):c.1684G>A (p.Glu562Lys)
|
rs549183501
|
0.00006
|
NM_003183.6(ADAM17):c.2396C>T (p.Pro799Leu)
|
rs747645870
|
0.00006
|
NM_003183.6(ADAM17):c.64G>T (p.Asp22Tyr)
|
rs146033784
|
0.00006
|
NM_003183.6(ADAM17):c.89A>G (p.Gln30Arg)
|
rs775793715
|
0.00006
|
NM_003238.6(TGFB2):c.*1034A>C
|
rs932331054
|
0.00006
|
NM_003238.6(TGFB2):c.*1229T>C
|
rs781757001
|
0.00006
|
NM_003238.6(TGFB2):c.*3193A>G
|
rs1161476569
|
0.00006
|
NM_003238.6(TGFB2):c.*972A>C
|
rs565195408
|
0.00006
|
NM_003239.5(TGFB3):c.235C>G (p.Leu79Val)
|
rs371230847
|
0.00006
|
NM_003242.5(TGFBR2):c.-307C>T
|
rs749340193
|
0.00006
|
NM_003242.6(TGFBR2):c.*1637G>A
|
rs1032978663
|
0.00006
|
NM_003242.6(TGFBR2):c.-337T>A
|
rs1038796042
|
0.00006
|
NM_003242.6(TGFBR2):c.1066C>G (p.Arg356Gly)
|
rs199660234
|
0.00006
|
NM_003242.6(TGFBR2):c.937C>T (p.Arg313Trp)
|
rs55751315
|
0.00006
|
NM_003242.6(TGFBR2):c.985G>A (p.Ala329Thr)
|
rs148665451
|
0.00006
|
NM_003977.4(AIP):c.145G>A (p.Val49Met)
|
rs1063385
|
0.00006
|
NM_003977.4(AIP):c.967C>T (p.Arg323Trp)
|
rs188965257
|
0.00006
|
NM_003978.5(PSTPIP1):c.1146G>A (p.Ala382=)
|
rs760234757
|
0.00006
|
NM_003978.5(PSTPIP1):c.1214G>A (p.Arg405His)
|
rs754321842
|
0.00006
|
NM_004273.5(CHST3):c.*1042C>G
|
rs886047165
|
0.00006
|
NM_004273.5(CHST3):c.*3857G>A
|
rs537395654
|
0.00006
|
NM_004273.5(CHST3):c.*887A>G
|
rs555113303
|
0.00006
|
NM_004304.5(ALK):c.2633-3C>T
|
rs200341945
|
0.00006
|
NM_004364.5(CEBPA):c.1018G>A (p.Gly340Ser)
|
rs375833261
|
0.00006
|
NM_004364.5(CEBPA):c.1021A>G (p.Ile341Val)
|
rs372931505
|
0.00006
|
NM_004364.5(CEBPA):c.827A>G (p.Lys276Arg)
|
rs201061067
|
0.00006
|
NM_004612.4(TGFBR1):c.*2846A>G
|
rs200238696
|
0.00006
|
NM_004612.4(TGFBR1):c.*4356A>G
|
rs201446431
|
0.00006
|
NM_004612.4(TGFBR1):c.1141C>T (p.Pro381Ser)
|
rs760555508
|
0.00006
|
NM_004612.4(TGFBR1):c.1301C>G (p.Ser434Cys)
|
rs886039078
|
0.00006
|
NM_004752.4(GCM2):c.1144G>A (p.Val382Met)
|
rs371918069
|
0.00006
|
NM_004944.4(DNASE1L3):c.1A>T (p.Met1Leu)
|
rs142482733
|
0.00006
|
NM_005188.4(CBL):c.1423G>A (p.Gly475Ser)
|
rs764599897
|
0.00006
|
NM_005373.3(MPL):c.622C>A (p.Gln208Lys)
|
rs111460954
|
0.00006
|
NM_005529.7(HSPG2):c.9717C>T (p.Pro3239=)
|
rs375006314
|
0.00006
|
NM_005902.4(SMAD3):c.*250C>A
|
rs754034578
|
0.00006
|
NM_006397.3(RNASEH2A):c.126G>C (p.Leu42=)
|
rs762363861
|
0.00006
|
NM_006397.3(RNASEH2A):c.143C>G (p.Ala48Gly)
|
rs749085589
|
0.00006
|
NM_006397.3(RNASEH2A):c.223G>C (p.Glu75Gln)
|
rs753695101
|
0.00006
|
NM_006397.3(RNASEH2A):c.292C>G (p.Pro98Ala)
|
rs767046465
|
0.00006
|
NM_006397.3(RNASEH2A):c.838C>T (p.Arg280Cys)
|
rs375883546
|
0.00006
|
NM_006397.3(RNASEH2A):c.880G>A (p.Glu294Lys)
|
rs764614950
|
0.00006
|
NM_006929.4(SKIC2):c.-195C>T
|
rs886061301
|
0.00006
|
NM_006929.4(SKIC2):c.-22A>T
|
rs755276769
|
0.00006
|
NM_006929.5(SKIC2):c.1376A>G (p.Asn459Ser)
|
rs149518958
|
0.00006
|
NM_006929.5(SKIC2):c.1404-15C>G
|
rs764954300
|
0.00006
|
NM_007194.4(CHEK2):c.1556G>T (p.Arg519Leu)
|
rs587780180
|
0.00006
|
NM_007194.4(CHEK2):c.1582G>A (p.Glu528Lys)
|
rs138040612
|
0.00006
|
NM_007194.4(CHEK2):c.542G>A (p.Arg181His)
|
rs121908701
|
0.00006
|
NM_007194.4(CHEK2):c.937G>A (p.Val313Met)
|
rs752302543
|
0.00006
|
NM_012275.3(IL36RN):c.*6C>T
|
rs189986394
|
0.00006
|
NM_012275.3(IL36RN):c.104A>G (p.Lys35Arg)
|
rs187015338
|
0.00006
|
NM_012275.3(IL36RN):c.245C>T (p.Pro82Leu)
|
rs144182857
|
0.00006
|
NM_015474.4(SAMHD1):c.-10A>G
|
rs199721283
|
0.00006
|
NM_015474.4(SAMHD1):c.401G>A (p.Arg134Gln)
|
rs767413799
|
0.00006
|
NM_017849.4(TMEM127):c.121A>G (p.Ile41Val)
|
rs760633411
|
0.00006
|
NM_017999.5(RNF31):c.2311G>A (p.Glu771Lys)
|
rs142436858
|
0.00006
|
NM_018699.4(PRDM5):c.*176T>C
|
rs558671397
|
0.00006
|
NM_018699.4(PRDM5):c.740C>T (p.Ser247Leu)
|
rs187637689
|
0.00006
|
NM_021625.5(TRPV4):c.2605G>A (p.Ala869Thr)
|
rs138396764
|
0.00006
|
NM_022124.6(CDH23):c.1699G>A (p.Val567Met)
|
rs377148854
|
0.00006
|
NM_022124.6(CDH23):c.1867G>A (p.Val623Ile)
|
rs143782870
|
0.00006
|
NM_022124.6(CDH23):c.4625G>A (p.Gly1542Asp)
|
rs781339262
|
0.00006
|
NM_022124.6(CDH23):c.6911G>A (p.Arg2304Gln)
|
rs201434373
|
0.00006
|
NM_022124.6(CDH23):c.7295G>A (p.Gly2432Asp)
|
rs201579860
|
0.00006
|
NM_022124.6(CDH23):c.8344G>A (p.Asp2782Asn)
|
rs202147495
|
0.00006
|
NM_022124.6(CDH23):c.8644T>C (p.Phe2882Leu)
|
rs761210350
|
0.00006
|
NM_022124.6(CDH23):c.9904G>A (p.Glu3302Lys)
|
rs368743687
|
0.00006
|
NM_022168.4(IFIH1):c.1243C>A (p.Gln415Lys)
|
rs575678322
|
0.00006
|
NM_022168.4(IFIH1):c.2299del (p.Thr767fs)
|
rs759430873
|
0.00006
|
NM_022168.4(IFIH1):c.2788A>C (p.Asn930His)
|
rs374202040
|
0.00006
|
NM_022168.4(IFIH1):c.371C>A (p.Thr124Asn)
|
rs768520868
|
0.00006
|
NM_022168.4(IFIH1):c.418G>A (p.Glu140Lys)
|
rs766508793
|
0.00006
|
NM_023110.3(FGFR1):c.1186G>A (p.Val396Ile)
|
rs752627281
|
0.00006
|
NM_024408.4(NOTCH2):c.3305A>G (p.Asn1102Ser)
|
rs781872271
|
0.00006
|
NM_024408.4(NOTCH2):c.4169A>G (p.His1390Arg)
|
rs373035180
|
0.00006
|
NM_024408.4(NOTCH2):c.4229G>A (p.Arg1410His)
|
rs202022988
|
0.00006
|
NM_024408.4(NOTCH2):c.6152G>A (p.Arg2051Gln)
|
rs192122939
|
0.00006
|
NM_024408.4(NOTCH2):c.881T>A (p.Phe294Tyr)
|
rs369664394
|
0.00006
|
NM_024529.5(CDC73):c.*1599A>G
|
rs543573271
|
0.00006
|
NM_024529.5(CDC73):c.*2801A>G
|
rs999015399
|
0.00006
|
NM_024529.5(CDC73):c.*2962T>C
|
rs147904515
|
0.00006
|
NM_024529.5(CDC73):c.*948C>T
|
rs761544591
|
0.00006
|
NM_024570.4(RNASEH2B):c.244+3A>G
|
rs371461579
|
0.00006
|
NM_024570.4(RNASEH2B):c.29G>A (p.Gly10Glu)
|
rs1340493334
|
0.00006
|
NM_024570.4(RNASEH2B):c.308A>G (p.Lys103Arg)
|
rs767086382
|
0.00006
|
NM_024570.4(RNASEH2B):c.904G>A (p.Gly302Arg)
|
rs749003546
|
0.00006
|
NM_025132.4(WDR19):c.3362A>G (p.Asn1121Ser)
|
rs545916111
|
0.00006
|
NM_030777.4(SLC2A10):c.1605C>T (p.Ile535=)
|
rs148470005
|
0.00006
|
NM_030777.4(SLC2A10):c.599C>G (p.Pro200Arg)
|
rs75218052
|
0.00006
|
NM_030777.4(SLC2A10):c.797G>T (p.Gly266Val)
|
rs369484751
|
0.00006
|
NM_030777.4(SLC2A10):c.949G>A (p.Val317Ile)
|
rs781230863
|
0.00006
|
NM_030777.4(SLC2A10):c.961G>A (p.Val321Met)
|
rs372596900
|
0.00006
|
NM_031229.4(RBCK1):c.1029G>A (p.Ala343=)
|
rs201470953
|
0.00006
|
NM_031229.4(RBCK1):c.1333A>G (p.Met445Val)
|
rs372983302
|
0.00006
|
NM_031229.4(RBCK1):c.1520A>G (p.Gln507Arg)
|
rs969675403
|
0.00006
|
NM_031229.4(RBCK1):c.358C>T (p.Arg120Trp)
|
rs774464341
|
0.00006
|
NM_031229.4(RBCK1):c.5A>G (p.Asp2Gly)
|
rs763445513
|
0.00006
|
NM_031229.4(RBCK1):c.839C>T (p.Ala280Val)
|
rs1331848000
|
0.00006
|
NM_031229.4(RBCK1):c.956C>T (p.Ala319Val)
|
rs1199811720
|
0.00006
|
NM_031229.4(RBCK1):c.992C>T (p.Ser331Leu)
|
rs781592121
|
0.00006
|
NM_032193.4(RNASEH2C):c.56C>G (p.Ala19Gly)
|
rs773830258
|
0.00006
|
NM_032638.5(GATA2):c.1274C>T (p.Ser425Leu)
|
rs146554939
|
0.00006
|
NM_033629.6(TREX1):c.337C>T (p.Arg113Trp)
|
rs759594113
|
0.00006
|
NM_033629.6(TREX1):c.346C>G (p.Pro116Ala)
|
rs761651331
|
0.00006
|
NM_052989.3(IFT122):c.3127C>A (p.Arg1043Ser)
|
rs555281580
|
0.00006
|
NM_053025.4(MYLK):c.229G>A (p.Gly77Ser)
|
rs139000120
|
0.00006
|
NM_053025.4(MYLK):c.5435C>T (p.Ser1812Phe)
|
rs1007504430
|
0.00006
|
NM_053025.4(MYLK):c.774-15C>G
|
rs371552521
|
0.00006
|
NM_054027.6(ANKH):c.*1081C>T
|
rs886060083
|
0.00006
|
NM_054027.6(ANKH):c.*1270A>C
|
rs187733448
|
0.00006
|
NM_054027.6(ANKH):c.*3562G>T
|
rs917646845
|
0.00006
|
NM_054027.6(ANKH):c.*5899A>G
|
rs976896150
|
0.00006
|
NM_058172.6(ANTXR2):c.*3707G>A
|
rs534524069
|
0.00006
|
NM_058172.6(ANTXR2):c.*4332G>A
|
rs1053639062
|
0.00006
|
NM_058172.6(ANTXR2):c.*5524C>T
|
rs927201999
|
0.00006
|
NM_130384.3(ATRIP):c.*495C>T
|
rs377157141
|
0.00006
|
NM_144687.4(NLRP12):c.1027C>T (p.Arg343Trp)
|
rs112159191
|
0.00006
|
NM_144687.4(NLRP12):c.1550T>C (p.Phe517Ser)
|
rs746890522
|
0.00006
|
NM_144687.4(NLRP12):c.1756C>T (p.His586Tyr)
|
rs772704000
|
0.00006
|
NM_144687.4(NLRP12):c.2183G>A (p.Arg728Gln)
|
rs373285006
|
0.00006
|
NM_144687.4(NLRP12):c.2383C>T (p.Arg795Trp)
|
rs762384329
|
0.00006
|
NM_144687.4(NLRP12):c.2887G>A (p.Glu963Lys)
|
rs139165669
|
0.00006
|
NM_144687.4(NLRP12):c.2911A>G (p.Arg971Gly)
|
rs753280591
|
0.00006
|
NM_144687.4(NLRP12):c.2966A>C (p.Asn989Thr)
|
rs151187420
|
0.00006
|
NM_144687.4(NLRP12):c.3042T>C (p.Gly1014=)
|
rs764841108
|
0.00006
|
NM_148919.4(PSMB8):c.240C>G (p.Phe80Leu)
|
rs529946385
|
0.00006
|
NM_148919.4(PSMB8):c.666A>C (p.Glu222Asp)
|
rs754578419
|
0.00006
|
NM_173170.1(IL36RN):c.-27-318G>A
|
rs759570472
|
0.00006
|
NM_183235.3(RAB27A):c.551G>A (p.Arg184Gln)
|
rs141362723
|
0.00006
|
NM_198253.3(TERT):c.159G>C (p.Gln53His)
|
rs1060503006
|
0.00006
|
NM_198282.4(STING1):c.284G>A (p.Arg95His)
|
rs1033930953
|
0.00006
|
NM_198282.4(STING1):c.757C>T (p.Arg253Trp)
|
rs199795457
|
0.00006
|
NM_198282.4(STING1):c.760-3T>C
|
rs759930084
|
0.00006
|
NM_198282.4(STING1):c.761C>T (p.Ala254Val)
|
rs774690247
|
0.00006
|
NM_198282.4(STING1):c.992G>A (p.Arg331Gln)
|
rs370524913
|
0.00006
|
NM_199242.3(UNC13D):c.1773G>T (p.Pro591=)
|
rs367988204
|
0.00006
|
NM_199242.3(UNC13D):c.2219C>T (p.Thr740Met)
|
rs761013333
|
0.00006
|
NM_199242.3(UNC13D):c.2499C>T (p.Ala833=)
|
rs200014965
|
0.00006
|
NM_199242.3(UNC13D):c.881C>T (p.Ser294Leu)
|
rs370741117
|
0.00006
|
NM_207122.2(EXT2):c.*381T>C
|
rs886048280
|
0.00006
|
NM_207122.2(EXT2):c.1249C>T (p.Arg417Trp)
|
rs540229057
|
0.00006
|
NM_207122.2(EXT2):c.1412G>A (p.Arg471Gln)
|
rs141256266
|
0.00006
|
NM_207122.2(EXT2):c.2053G>A (p.Gly685Arg)
|
rs367897723
|
0.00006
|
NM_207122.2(EXT2):c.919G>A (p.Asp307Asn)
|
rs200631641
|
0.00006
|
NM_212482.4(FN1):c.3289G>A (p.Glu1097Lys)
|
rs753807100
|
0.00006
|
NM_212482.4(FN1):c.4801C>T (p.Pro1601Ser)
|
rs532827189
|
0.00006
|
NM_212482.4(FN1):c.5482A>G (p.Ser1828Gly)
|
rs199941833
|
0.00006
|
NM_212482.4(FN1):c.6052C>T (p.Arg2018Cys)
|
rs372237449
|
0.00006
|
NM_212482.4(FN1):c.6157+4T>C
|
rs779209474
|
0.00006
|
NM_212482.4(FN1):c.862G>A (p.Asp288Asn)
|
rs200731330
|
0.00006
|
NM_000038.6(APC):c.1553C>T (p.Thr518Met)
|
rs371453363
|
0.00005
|
NM_000038.6(APC):c.4372C>T (p.Pro1458Ser)
|
rs143796828
|
0.00005
|
NM_000127.3(EXT1):c.-57G>C
|
rs886062636
|
0.00005
|
NM_000138.5(FBN1):c.-123C>A
|
rs1004900313
|
0.00005
|
NM_000138.5(FBN1):c.247+10T>C
|
rs367618012
|
0.00005
|
NM_000138.5(FBN1):c.2927G>A (p.Arg976His)
|
rs140954477
|
0.00005
|
NM_000138.5(FBN1):c.4162C>T (p.Arg1388Cys)
|
rs770860280
|
0.00005
|
NM_000138.5(FBN1):c.4316C>G (p.Ala1439Gly)
|
rs755085498
|
0.00005
|
NM_000138.5(FBN1):c.4321G>A (p.Gly1441Arg)
|
rs372118067
|
0.00005
|
NM_000138.5(FBN1):c.466A>C (p.Asn156His)
|
rs746352371
|
0.00005
|
NM_000138.5(FBN1):c.4746A>G (p.Thr1582=)
|
rs794727601
|
0.00005
|
NM_000138.5(FBN1):c.6728G>A (p.Arg2243Lys)
|
rs769589759
|
0.00005
|
NM_000138.5(FBN1):c.7051G>A (p.Gly2351Ser)
|
rs746127796
|
0.00005
|
NM_000138.5(FBN1):c.8149G>A (p.Glu2717Lys)
|
rs187553035
|
0.00005
|
NM_000138.5(FBN1):c.83A>G (p.Asn28Ser)
|
rs193922245
|
0.00005
|
NM_000142.5(FGFR3):c.1827C>G (p.Ala609=)
|
rs750472969
|
0.00005
|
NM_000243.3(MEFV):c.*579C>A
|
rs1026430345
|
0.00005
|
NM_000243.3(MEFV):c.1406T>C (p.Val469Ala)
|
rs778686119
|
0.00005
|
NM_000243.3(MEFV):c.2337G>C (p.Gly779=)
|
rs104895153
|
0.00005
|
NM_000243.3(MEFV):c.460T>C (p.Ser154Pro)
|
rs756975501
|
0.00005
|
NM_000302.4(PLOD1):c.1064G>A (p.Arg355Gln)
|
rs370305686
|
0.00005
|
NM_000302.4(PLOD1):c.1202+3G>A
|
rs370358836
|
0.00005
|
NM_000302.4(PLOD1):c.1324C>T (p.Arg442Cys)
|
rs763672034
|
0.00005
|
NM_000302.4(PLOD1):c.773C>T (p.Pro258Leu)
|
rs766692124
|
0.00005
|
NM_000302.4(PLOD1):c.929G>A (p.Arg310Gln)
|
rs992278231
|
0.00005
|
NM_000302.4(PLOD1):c.947A>C (p.Lys316Thr)
|
rs141881216
|
0.00005
|
NM_000302.4(PLOD1):c.970A>G (p.Asn324Asp)
|
rs959635301
|
0.00005
|
NM_000388.4(CASR):c.*251G>C
|
rs904222689
|
0.00005
|
NM_000388.4(CASR):c.779A>G (p.Gln260Arg)
|
rs200386687
|
0.00005
|
NM_000393.5(COL5A2):c.3201+14C>T
|
rs368713290
|
0.00005
|
NM_000431.4(MVK):c.*333G>A
|
rs770255513
|
0.00005
|
NM_000431.4(MVK):c.1051C>T (p.Pro351Ser)
|
rs773929129
|
0.00005
|
NM_000431.4(MVK):c.394G>A (p.Val132Ile)
|
rs104895336
|
0.00005
|
NM_000435.3(NOTCH3):c.2960C>G (p.Thr987Ser)
|
rs752995216
|
0.00005
|
NM_000435.3(NOTCH3):c.451C>G (p.Gln151Glu)
|
rs371491165
|
0.00005
|
NM_000435.3(NOTCH3):c.6521G>A (p.Arg2174Gln)
|
rs1337328035
|
0.00005
|
NM_001032283.3(TMPO):c.565+1107C>T
|
rs750751621
|
0.00005
|
NM_001032283.3(TMPO):c.565+1824C>G
|
rs373861992
|
0.00005
|
NM_001042492.3(NF1):c.1166A>G (p.His389Arg)
|
rs149739570
|
0.00005
|
NM_001042492.3(NF1):c.1894T>A (p.Cys632Ser)
|
rs370789267
|
0.00005
|
NM_001042492.3(NF1):c.4207G>A (p.Gly1403Ser)
|
rs138227618
|
0.00005
|
NM_001065.4(TNFRSF1A):c.167C>T (p.Ser56Leu)
|
rs199961053
|
0.00005
|
NM_001065.4(TNFRSF1A):c.434A>G (p.Asn145Ser)
|
rs104895288
|
0.00005
|
NM_001111.5(ADAR):c.*1344G>A
|
rs550673541
|
0.00005
|
NM_001111.5(ADAR):c.*885G>A
|
rs149774073
|
0.00005
|
NM_001111.5(ADAR):c.1400G>A (p.Arg467His)
|
rs192121167
|
0.00005
|
NM_001111.5(ADAR):c.2080C>T (p.Pro694Ser)
|
rs755535385
|
0.00005
|
NM_001111.5(ADAR):c.2611G>A (p.Ala871Thr)
|
rs769985255
|
0.00005
|
NM_001111.5(ADAR):c.3581C>T (p.Thr1194Met)
|
rs367899281
|
0.00005
|
NM_001122681.2(SH3BP2):c.*2464T>C
|
rs886059366
|
0.00005
|
NM_001122681.2(SH3BP2):c.1190C>T (p.Ala397Val)
|
rs527342066
|
0.00005
|
NM_001122681.2(SH3BP2):c.1507G>A (p.Glu503Lys)
|
rs767658389
|
0.00005
|
NM_001122681.2(SH3BP2):c.32C>T (p.Pro11Leu)
|
rs751798471
|
0.00005
|
NM_001122681.2(SH3BP2):c.512A>G (p.Asn171Ser)
|
rs143236581
|
0.00005
|
NM_001171.6(ABCC6):c.2650G>A (p.Glu884Lys)
|
rs138049574
|
0.00005
|
NM_001171.6(ABCC6):c.3457C>T (p.Arg1153Cys)
|
rs762758350
|
0.00005
|
NM_001171.6(ABCC6):c.841A>G (p.Lys281Glu)
|
rs879274205
|
0.00005
|
NM_001199138.2(NLRC4):c.1080A>G (p.Thr360=)
|
rs748510736
|
0.00005
|
NM_001199138.2(NLRC4):c.1754A>G (p.Tyr585Cys)
|
rs763410160
|
0.00005
|
NM_001199138.2(NLRC4):c.371T>C (p.Ile124Thr)
|
rs188120749
|
0.00005
|
NM_001243133.2(NLRP3):c.-122T>C
|
rs202234129
|
0.00005
|
NM_001243133.2(NLRP3):c.1021G>A (p.Glu341Lys)
|
rs369910640
|
0.00005
|
NM_001243133.2(NLRP3):c.2424C>T (p.Leu808=)
|
rs147154764
|
0.00005
|
NM_001282225.2(ADA2):c.1522G>A (p.Val508Met)
|
rs767440845
|
0.00005
|
NM_001282225.2(ADA2):c.740C>T (p.Ala247Val)
|
rs750868279
|
0.00005
|
NM_001282225.2(ADA2):c.917G>A (p.Arg306Gln)
|
rs768927379
|
0.00005
|
NM_001366385.1(CARD14):c.646G>A (p.Ala216Thr)
|
rs574982768
|
0.00005
|
NM_001366385.1(CARD14):c.828G>A (p.Ser276=)
|
rs150424747
|
0.00005
|
NM_001367624.2(ZNF469):c.11052G>A (p.Ser3684=)
|
rs780722176
|
0.00005
|
NM_001367624.2(ZNF469):c.4258G>A (p.Glu1420Lys)
|
rs387907063
|
0.00005
|
NM_001367624.2(ZNF469):c.745G>A (p.Gly249Arg)
|
rs1163683032
|
0.00005
|
NM_001367624.2(ZNF469):c.8654C>T (p.Pro2885Leu)
|
rs886052413
|
0.00005
|
NM_001367624.2(ZNF469):c.98C>T (p.Pro33Leu)
|
rs752770883
|
0.00005
|
NM_001370466.1(NOD2):c.-8-2238G>C
|
rs976567823
|
0.00005
|
NM_001370466.1(NOD2):c.1037G>A (p.Arg346His)
|
rs764176270
|
0.00005
|
NM_001370466.1(NOD2):c.1085C>T (p.Thr362Met)
|
rs528926956
|
0.00005
|
NM_001370466.1(NOD2):c.1450A>G (p.Thr484Ala)
|
rs759153904
|
0.00005
|
NM_001370466.1(NOD2):c.1546C>T (p.Arg516Cys)
|
rs545580252
|
0.00005
|
NM_001370466.1(NOD2):c.1679G>A (p.Arg560His)
|
rs373185098
|
0.00005
|
NM_001370466.1(NOD2):c.2287C>T (p.Arg763Trp)
|
rs62029861
|
0.00005
|
NM_001370466.1(NOD2):c.2776A>G (p.Lys926Glu)
|
rs375705174
|
0.00005
|
NM_001370466.1(NOD2):c.377T>G (p.Leu126Arg)
|
rs867184583
|
0.00005
|
NM_001370466.1(NOD2):c.789C>T (p.Asp263=)
|
rs749180535
|
0.00005
|
NM_001375808.2(LPIN2):c.1099G>A (p.Ala367Thr)
|
rs540544894
|
0.00005
|
NM_001375808.2(LPIN2):c.1711-3C>T
|
rs753743998
|
0.00005
|
NM_001375808.2(LPIN2):c.2650C>T (p.Arg884Ter)
|
rs547662448
|
0.00005
|
NM_001375808.2(LPIN2):c.353T>C (p.Ile118Thr)
|
rs181542503
|
0.00005
|
NM_001558.4(IL10RA):c.253G>A (p.Ala85Thr)
|
rs148441092
|
0.00005
|
NM_001558.4(IL10RA):c.712A>G (p.Ile238Val)
|
rs200227183
|
0.00005
|
NM_001558.4(IL10RA):c.943G>A (p.Gly315Ser)
|
rs371381563
|
0.00005
|
NM_001611.5(ACP5):c.131C>T (p.Thr44Met)
|
rs369804864
|
0.00005
|
NM_001611.5(ACP5):c.545G>A (p.Arg182His)
|
rs778805198
|
0.00005
|
NM_001611.5(ACP5):c.757G>A (p.Val253Met)
|
rs371116310
|
0.00005
|
NM_001754.5(RUNX1):c.749G>A (p.Arg250His)
|
rs771614642
|
0.00005
|
NM_001844.5(COL2A1):c.1680+8G>T
|
rs754310324
|
0.00005
|
NM_001844.5(COL2A1):c.1680+9C>A
|
rs371857655
|
0.00005
|
NM_001844.5(COL2A1):c.4316C>T (p.Thr1439Met)
|
rs121912886
|
0.00005
|
NM_001844.5(COL2A1):c.4375C>T (p.Arg1459Cys)
|
rs148838496
|
0.00005
|
NM_001844.5(COL2A1):c.4448C>T (p.Pro1483Leu)
|
rs376442872
|
0.00005
|
NM_001852.4(COL9A2):c.407G>A (p.Arg136Gln)
|
rs751212530
|
0.00005
|
NM_001852.4(COL9A2):c.629C>T (p.Pro210Leu)
|
rs199831035
|
0.00005
|
NM_001999.4(FBN2):c.1720A>G (p.Ile574Val)
|
rs768073096
|
0.00005
|
NM_001999.4(FBN2):c.3149C>T (p.Thr1050Met)
|
rs150506063
|
0.00005
|
NM_001999.4(FBN2):c.3584G>A (p.Arg1195His)
|
rs751600209
|
0.00005
|
NM_001999.4(FBN2):c.4102G>A (p.Val1368Met)
|
rs762139261
|
0.00005
|
NM_001999.4(FBN2):c.5494C>T (p.Arg1832Cys)
|
rs778519094
|
0.00005
|
NM_002296.4(LBR):c.1324T>C (p.Leu442=)
|
rs61749338
|
0.00005
|
NM_002451.4(MTAP):c.*2937C>G
|
rs536527668
|
0.00005
|
NM_002451.4(MTAP):c.*3060A>G
|
rs1179074073
|
0.00005
|
NM_002451.4(MTAP):c.*3206C>T
|
rs886063793
|
0.00005
|
NM_002451.4(MTAP):c.*395A>G
|
rs1050551130
|
0.00005
|
NM_002474.3(MYH11):c.2496G>C (p.Trp832Cys)
|
rs369196744
|
0.00005
|
NM_002661.5(PLCG2):c.2383C>G (p.Leu795Val)
|
rs748644186
|
0.00005
|
NM_002661.5(PLCG2):c.3423G>A (p.Met1141Ile)
|
rs552036893
|
0.00005
|
NM_002661.5(PLCG2):c.407C>T (p.Ala136Val)
|
rs777990663
|
0.00005
|
NM_002661.5(PLCG2):c.485G>C (p.Ser162Thr)
|
rs142022471
|
0.00005
|
NM_002661.5(PLCG2):c.925G>A (p.Val309Met)
|
rs768664050
|
0.00005
|
NM_003036.4(SKI):c.1636C>T (p.Arg546Trp)
|
rs774648274
|
0.00005
|
NM_003183.6(ADAM17):c.1081C>T (p.His361Tyr)
|
rs201481056
|
0.00005
|
NM_003183.6(ADAM17):c.1985A>G (p.Asn662Ser)
|
rs140933944
|
0.00005
|
NM_003238.6(TGFB2):c.-1249G>A
|
rs1002933360
|
0.00005
|
NM_003238.6(TGFB2):c.386T>C (p.Ile129Thr)
|
rs752823052
|
0.00005
|
NM_003239.5(TGFB3):c.559G>A (p.Gly187Ser)
|
rs201063101
|
0.00005
|
NM_003242.6(TGFBR2):c.340G>C (p.Glu114Gln)
|
rs771551560
|
0.00005
|
NM_003242.6(TGFBR2):c.689C>T (p.Thr230Met)
|
rs150116445
|
0.00005
|
NM_003242.6(TGFBR2):c.91T>G (p.Ser31Ala)
|
rs761400349
|
0.00005
|
NM_003978.5(PSTPIP1):c.1222G>A (p.Val408Ile)
|
rs750572947
|
0.00005
|
NM_003978.5(PSTPIP1):c.411C>A (p.Ala137=)
|
rs368114895
|
0.00005
|
NM_003978.5(PSTPIP1):c.584T>C (p.Ile195Thr)
|
rs771232034
|
0.00005
|
NM_004273.5(CHST3):c.*1621C>G
|
rs768478124
|
0.00005
|
NM_004273.5(CHST3):c.-131G>A
|
rs886047158
|
0.00005
|
NM_004273.5(CHST3):c.276C>A (p.Ser92Arg)
|
rs777858428
|
0.00005
|
NM_004364.5(CEBPA):c.304G>A (p.Gly102Ser)
|
rs1455462308
|
0.00005
|
NM_004612.4(TGFBR1):c.1040G>C (p.Cys347Ser)
|
rs113786548
|
0.00005
|
NM_004612.4(TGFBR1):c.929C>T (p.Ala310Val)
|
rs202010361
|
0.00005
|
NM_004944.4(DNASE1L3):c.151C>T (p.Arg51Cys)
|
rs374713985
|
0.00005
|
NM_005188.4(CBL):c.2520T>G (p.Cys840Trp)
|
rs112330156
|
0.00005
|
NM_005373.3(MPL):c.1051C>T (p.Arg351Cys)
|
rs201998783
|
0.00005
|
NM_005373.3(MPL):c.173C>T (p.Ala58Val)
|
rs6087
|
0.00005
|
NM_005529.7(HSPG2):c.13147G>A (p.Gly4383Arg)
|
rs554059442
|
0.00005
|
NM_005902.4(SMAD3):c.*626C>T
|
rs886051385
|
0.00005
|
NM_005902.4(SMAD3):c.440C>T (p.Pro147Leu)
|
rs377026877
|
0.00005
|
NM_005902.4(SMAD3):c.607+4A>C
|
rs1465673227
|
0.00005
|
NM_005902.4(SMAD3):c.607+9T>A
|
rs886051380
|
0.00005
|
NM_006397.3(RNASEH2A):c.*68C>T
|
rs564029348
|
0.00005
|
NM_006397.3(RNASEH2A):c.568G>A (p.Val190Met)
|
rs370225385
|
0.00005
|
NM_006579.3(EBP):c.59A>C (p.Asn20Thr)
|
rs144359050
|
0.00005
|
NM_006949.4(STXBP2):c.759G>A (p.Ala253=)
|
rs145260482
|
0.00005
|
NM_017617.5(NOTCH1):c.6205G>A (p.Ala2069Thr)
|
rs567909904
|
0.00005
|
NM_018699.4(PRDM5):c.1623+8T>C
|
rs201965676
|
0.00005
|
NM_022124.6(CDH23):c.9955G>A (p.Glu3319Lys)
|
rs771858198
|
0.00005
|
NM_022168.4(IFIH1):c.1222G>A (p.Asp408Asn)
|
rs148540097
|
0.00005
|
NM_022168.4(IFIH1):c.1787_1797del (p.Lys596fs)
|
rs766039450
|
0.00005
|
NM_022168.4(IFIH1):c.2464C>T (p.Arg822Ter)
|
rs747926684
|
0.00005
|
NM_022168.4(IFIH1):c.283A>G (p.Met95Val)
|
rs777534095
|
0.00005
|
NM_024408.4(NOTCH2):c.4699C>T (p.Arg1567Trp)
|
rs552225415
|
0.00005
|
NM_024408.4(NOTCH2):c.4820G>A (p.Arg1607His)
|
rs372710038
|
0.00005
|
NM_024408.4(NOTCH2):c.6338C>T (p.Pro2113Leu)
|
rs767621140
|
0.00005
|
NM_024408.4(NOTCH2):c.6868G>A (p.Glu2290Lys)
|
rs141878560
|
0.00005
|
NM_024408.4(NOTCH2):c.6979A>G (p.Thr2327Ala)
|
rs587778578
|
0.00005
|
NM_024529.5(CDC73):c.*1251A>G
|
rs550417983
|
0.00005
|
NM_024570.4(RNASEH2B):c.734C>T (p.Pro245Leu)
|
rs190327832
|
0.00005
|
NM_030777.4(SLC2A10):c.*1000C>T
|
rs886056733
|
0.00005
|
NM_030777.4(SLC2A10):c.*1162C>T
|
rs185898725
|
0.00005
|
NM_030777.4(SLC2A10):c.*2316C>T
|
rs757116033
|
0.00005
|
NM_030777.4(SLC2A10):c.878G>A (p.Arg293His)
|
rs770882223
|
0.00005
|
NM_031229.4(RBCK1):c.331C>G (p.Gln111Glu)
|
rs746197240
|
0.00005
|
NM_031229.4(RBCK1):c.514C>A (p.Pro172Thr)
|
rs751621844
|
0.00005
|
NM_031229.4(RBCK1):c.808C>G (p.Gln270Glu)
|
rs201645896
|
0.00005
|
NM_032193.4(RNASEH2C):c.*1532G>A
|
rs376966597
|
0.00005
|
NM_032193.4(RNASEH2C):c.*541C>T
|
rs756513194
|
0.00005
|
NM_033629.6(TREX1):c.1A>G (p.Met1Val)
|
rs761165865
|
0.00005
|
NM_033629.6(TREX1):c.338G>A (p.Arg113Gln)
|
rs201496629
|
0.00005
|
NM_054027.6(ANKH):c.*2393A>T
|
rs963039838
|
0.00005
|
NM_054027.6(ANKH):c.*4635A>C
|
rs1036873430
|
0.00005
|
NM_054027.6(ANKH):c.*6129G>A
|
rs757736999
|
0.00005
|
NM_054027.6(ANKH):c.*999T>C
|
rs957305303
|
0.00005
|
NM_058172.6(ANTXR2):c.*4668T>C
|
rs544590235
|
0.00005
|
NM_058172.6(ANTXR2):c.1361C>T (p.Ala454Val)
|
rs372562244
|
0.00005
|
NM_058172.6(ANTXR2):c.1432C>T (p.Arg478Trp)
|
rs199499401
|
0.00005
|
NM_144687.4(NLRP12):c.1130A>G (p.Tyr377Cys)
|
rs760166759
|
0.00005
|
NM_144687.4(NLRP12):c.1951T>C (p.Ser651Pro)
|
rs370478544
|
0.00005
|
NM_144687.4(NLRP12):c.1982A>C (p.Gln661Pro)
|
rs201726924
|
0.00005
|
NM_144687.4(NLRP12):c.2771G>A (p.Arg924Gln)
|
rs570948263
|
0.00005
|
NM_144687.4(NLRP12):c.610G>A (p.Glu204Lys)
|
rs748313621
|
0.00005
|
NM_144687.4(NLRP12):c.752A>G (p.Asn251Ser)
|
rs200679354
|
0.00005
|
NM_148919.4(PSMB8):c.633G>A (p.Met211Ile)
|
rs137937891
|
0.00005
|
NM_173841.3(IL1RN):c.58A>C (p.Asn20His)
|
rs369994270
|
0.00005
|
NM_173842.3(IL1RN):c.418G>A (p.Ala140Thr)
|
rs565499594
|
0.00005
|
NM_198253.3(TERT):c.1108C>T (p.Pro370Ser)
|
rs143148040
|
0.00005
|
NM_198253.3(TERT):c.2287-5G>A
|
rs561426406
|
0.00005
|
NM_207122.2(EXT2):c.1185C>G (p.Phe395Leu)
|
rs776907891
|
0.00005
|
NM_207122.2(EXT2):c.1487C>T (p.Pro496Leu)
|
rs772530256
|
0.00005
|
NM_207122.2(EXT2):c.284G>A (p.Arg95His)
|
rs143703574
|
0.00005
|
NM_207122.2(EXT2):c.445C>T (p.Arg149Trp)
|
rs757297287
|
0.00005
|
NM_207122.2(EXT2):c.698A>G (p.Tyr233Cys)
|
rs146316660
|
0.00005
|
NM_207122.2(EXT2):c.749G>A (p.Arg250Gln)
|
rs770821909
|
0.00005
|
NM_212482.4(FN1):c.6121C>T (p.Arg2041Trp)
|
rs376754454
|
0.00005
|
NM_000038.6(APC):c.1762G>A (p.Val588Ile)
|
rs372416031
|
0.00004
|
NM_000038.6(APC):c.5894A>C (p.His1965Pro)
|
rs773776516
|
0.00004
|
NM_000038.6(APC):c.6639G>A (p.Met2213Ile)
|
rs35540155
|
0.00004
|
NM_000038.6(APC):c.7531C>T (p.Leu2511Phe)
|
rs72541815
|
0.00004
|
NM_000038.6(APC):c.776G>A (p.Arg259Gln)
|
rs767457050
|
0.00004
|
NM_000047.3(ARSL):c.512A>G (p.Tyr171Cys)
|
rs368359145
|
0.00004
|
NM_000059.4(BRCA2):c.7010C>T (p.Thr2337Ile)
|
rs80358927
|
0.00004
|
NM_000081.4(LYST):c.11354G>A (p.Arg3785His)
|
rs370173269
|
0.00004
|
NM_000081.4(LYST):c.1390G>A (p.Glu464Lys)
|
rs374284011
|
0.00004
|
NM_000081.4(LYST):c.3107A>C (p.Glu1036Ala)
|
rs559751044
|
0.00004
|
NM_000081.4(LYST):c.4705A>C (p.Asn1569His)
|
rs767687843
|
0.00004
|
NM_000081.4(LYST):c.7690G>A (p.Ala2564Thr)
|
rs759733310
|
0.00004
|
NM_000089.4(COL1A2):c.286A>G (p.Met96Val)
|
rs763509640
|
0.00004
|
NM_000090.4(COL3A1):c.3326G>A (p.Arg1109Gln)
|
rs730880062
|
0.00004
|
NM_000127.3(EXT1):c.1743G>A (p.Val581=)
|
rs375284779
|
0.00004
|
NM_000138.5(FBN1):c.*2221A>G
|
rs886051226
|
0.00004
|
NM_000138.5(FBN1):c.*300T>C
|
rs1011876253
|
0.00004
|
NM_000138.5(FBN1):c.1087G>A (p.Gly363Ser)
|
rs363855
|
0.00004
|
NM_000138.5(FBN1):c.1602T>C (p.Cys534=)
|
rs377386372
|
0.00004
|
NM_000138.5(FBN1):c.1837+4C>T
|
rs199950267
|
0.00004
|
NM_000138.5(FBN1):c.1880G>A (p.Arg627His)
|
rs746073643
|
0.00004
|
NM_000138.5(FBN1):c.1885G>A (p.Val629Ile)
|
rs140503215
|
0.00004
|
NM_000138.5(FBN1):c.1951G>A (p.Val651Met)
|
rs1335043561
|
0.00004
|
NM_000138.5(FBN1):c.2075T>A (p.Phe692Tyr)
|
rs955639059
|
0.00004
|
NM_000138.5(FBN1):c.2600A>G (p.Asn867Ser)
|
rs145464311
|
0.00004
|
NM_000138.5(FBN1):c.3145G>A (p.Gly1049Ser)
|
rs778181932
|
0.00004
|
NM_000138.5(FBN1):c.3295G>A (p.Glu1099Lys)
|
rs763485521
|
0.00004
|
NM_000138.5(FBN1):c.3503A>G (p.Asn1168Ser)
|
rs776667707
|
0.00004
|
NM_000138.5(FBN1):c.350A>G (p.Gln117Arg)
|
rs777826174
|
0.00004
|
NM_000138.5(FBN1):c.3837A>G (p.Val1279=)
|
rs59007872
|
0.00004
|
NM_000138.5(FBN1):c.4163G>A (p.Arg1388His)
|
rs749196340
|
0.00004
|
NM_000138.5(FBN1):c.4804G>A (p.Val1602Ile)
|
rs780957696
|
0.00004
|
NM_000138.5(FBN1):c.5656C>G (p.Gln1886Glu)
|
rs1038114901
|
0.00004
|
NM_000138.5(FBN1):c.5717G>A (p.Arg1906Gln)
|
rs774798866
|
0.00004
|
NM_000138.5(FBN1):c.5724A>G (p.Thr1908=)
|
rs141219664
|
0.00004
|
NM_000138.5(FBN1):c.5842A>G (p.Ile1948Val)
|
rs766850261
|
0.00004
|
NM_000138.5(FBN1):c.5921T>C (p.Ile1974Thr)
|
rs765878996
|
0.00004
|
NM_000138.5(FBN1):c.6055G>A (p.Glu2019Lys)
|
rs377149130
|
0.00004
|
NM_000138.5(FBN1):c.6911A>G (p.Asn2304Ser)
|
rs375939213
|
0.00004
|
NM_000138.5(FBN1):c.7210G>A (p.Asp2404Asn)
|
rs530059069
|
0.00004
|
NM_000138.5(FBN1):c.8179G>A (p.Gly2727Ser)
|
rs758748297
|
0.00004
|
NM_000138.5(FBN1):c.8299A>G (p.Asn2767Asp)
|
rs771437236
|
0.00004
|
NM_000138.5(FBN1):c.8308C>T (p.His2770Tyr)
|
rs774658482
|
0.00004
|
NM_000138.5(FBN1):c.980G>C (p.Arg327Thr)
|
rs775206410
|
0.00004
|
NM_000222.3(KIT):c.2104C>G (p.Leu702Val)
|
rs768847037
|
0.00004
|
NM_000243.3(MEFV):c.*695C>G
|
rs1596349291
|
0.00004
|
NM_000243.3(MEFV):c.*761del
|
rs886051967
|
0.00004
|
NM_000243.3(MEFV):c.1060C>T (p.Arg354Trp)
|
rs104895116
|
0.00004
|
NM_000243.3(MEFV):c.1130G>A (p.Arg377His)
|
rs144998416
|
0.00004
|
NM_000243.3(MEFV):c.1337A>C (p.Glu446Ala)
|
rs749651486
|
0.00004
|
NM_000243.3(MEFV):c.150G>A (p.Pro50=)
|
rs376952748
|
0.00004
|
NM_000243.3(MEFV):c.1527C>T (p.Leu509=)
|
rs571832030
|
0.00004
|
NM_000243.3(MEFV):c.1532C>T (p.Ala511Val)
|
rs144270019
|
0.00004
|
NM_000243.3(MEFV):c.1957C>T (p.Arg653Cys)
|
rs375716505
|
0.00004
|
NM_000243.3(MEFV):c.202C>T (p.Gln68Ter)
|
rs768473920
|
0.00004
|
NM_000243.3(MEFV):c.2109C>T (p.Ser703=)
|
rs104895118
|
0.00004
|
NM_000243.3(MEFV):c.2111T>G (p.Val704Gly)
|
rs748891586
|
0.00004
|
NM_000243.3(MEFV):c.2117C>T (p.Pro706Leu)
|
rs202174893
|
0.00004
|
NM_000243.3(MEFV):c.277G>C (p.Glu93Gln)
|
rs138498376
|
0.00004
|
NM_000243.3(MEFV):c.311C>G (p.Ser104Cys)
|
rs151306047
|
0.00004
|
NM_000243.3(MEFV):c.487G>C (p.Glu163Gln)
|
rs759918824
|
0.00004
|
NM_000243.3(MEFV):c.501G>C (p.Glu167Asp)
|
rs104895079
|
0.00004
|
NM_000243.3(MEFV):c.611G>A (p.Arg204His)
|
rs775663363
|
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_000243.3(MEFV):c.948C>T (p.His316=)
|
rs150252937
|
0.00004
|
NM_000243.3(MEFV):c.973G>A (p.Gly325Ser)
|
rs146862274
|
0.00004
|
NM_000302.3(PLOD1):c.-64C>G
|
rs886045195
|
0.00004
|
NM_000302.4(PLOD1):c.109G>A (p.Glu37Lys)
|
rs369263247
|
0.00004
|
NM_000302.4(PLOD1):c.1387C>T (p.Arg463Trp)
|
rs745946511
|
0.00004
|
NM_000302.4(PLOD1):c.1388G>A (p.Arg463Gln)
|
rs750100311
|
0.00004
|
NM_000302.4(PLOD1):c.1584+10G>A
|
rs756917169
|
0.00004
|
NM_000302.4(PLOD1):c.1685C>T (p.Thr562Met)
|
rs770120389
|
0.00004
|
NM_000302.4(PLOD1):c.1930C>T (p.Arg644Cys)
|
rs576416937
|
0.00004
|
NM_000302.4(PLOD1):c.2072C>T (p.Ala691Val)
|
rs777096767
|
0.00004
|
NM_000302.4(PLOD1):c.475G>A (p.Gly159Ser)
|
rs772861343
|
0.00004
|
NM_000302.4(PLOD1):c.614G>A (p.Arg205His)
|
rs536503346
|
0.00004
|
NM_000302.4(PLOD1):c.805G>A (p.Val269Met)
|
rs145447578
|
0.00004
|
NM_000302.4(PLOD1):c.874G>A (p.Val292Met)
|
rs143114026
|
0.00004
|
NM_000302.4(PLOD1):c.975C>T (p.His325=)
|
rs761576315
|
0.00004
|
NM_000316.3(PTH1R):c.1353+8G>T
|
rs201749357
|
0.00004
|
NM_000388.4(CASR):c.1913G>A (p.Arg638His)
|
rs201852643
|
0.00004
|
NM_000388.4(CASR):c.2955C>T (p.Asn985=)
|
rs199884115
|
0.00004
|
NM_000388.4(CASR):c.308C>T (p.Thr103Ile)
|
rs199734455
|
0.00004
|
NM_000388.4(CASR):c.3220A>G (p.Asn1074Asp)
|
rs775066593
|
0.00004
|
NM_000388.4(CASR):c.32T>C (p.Leu11Ser)
|
rs200673016
|
0.00004
|
NM_000388.4(CASR):c.60C>T (p.Tyr20=)
|
rs201564143
|
0.00004
|
NM_000431.4(MVK):c.1039+7C>T
|
rs370291700
|
0.00004
|
NM_000431.4(MVK):c.14T>C (p.Val5Ala)
|
rs141765653
|
0.00004
|
NM_000431.4(MVK):c.449C>T (p.Ser150Leu)
|
rs747116992
|
0.00004
|
NM_000431.4(MVK):c.722G>A (p.Arg241His)
|
rs372166675
|
0.00004
|
NM_000431.4(MVK):c.863C>T (p.Pro288Leu)
|
rs104895355
|
0.00004
|
NM_000431.4(MVK):c.874C>T (p.Leu292Phe)
|
rs145586352
|
0.00004
|
NM_000478.6(ALPL):c.1070G>A (p.Arg357Gln)
|
rs202022405
|
0.00004
|
NM_000546.6(TP53):c.460G>A (p.Gly154Ser)
|
rs137852789
|
0.00004
|
NM_000628.5(IL10RB):c.*515C>T
|
rs767017864
|
0.00004
|
NM_001032283.3(TMPO):c.128A>G (p.Gln43Arg)
|
rs371427406
|
0.00004
|
NM_001032283.3(TMPO):c.565+1310G>C
|
rs779961791
|
0.00004
|
NM_001032283.3(TMPO):c.565+1414G>A
|
rs1381728541
|
0.00004
|
NM_001032283.3(TMPO):c.565+1675A>G
|
rs370366685
|
0.00004
|
NM_001032283.3(TMPO):c.565+2188C>T
|
rs763238672
|
0.00004
|
NM_001042492.3(NF1):c.231A>T (p.Lys77Asn)
|
rs373563053
|
0.00004
|
NM_001042492.3(NF1):c.3371G>A (p.Ser1124Asn)
|
rs374472758
|
0.00004
|
NM_001042492.3(NF1):c.3883A>G (p.Thr1295Ala)
|
rs143836226
|
0.00004
|
NM_001042492.3(NF1):c.3947A>G (p.His1316Arg)
|
rs751023085
|
0.00004
|
NM_001042492.3(NF1):c.4111-4G>A
|
rs764877783
|
0.00004
|
NM_001084.5(PLOD3):c.1448C>T (p.Ser483Leu)
|
rs143759215
|
0.00004
|
NM_001084.5(PLOD3):c.976G>A (p.Asp326Asn)
|
rs369736445
|
0.00004
|
NM_001111.5(ADAR):c.*2316G>A
|
rs200367762
|
0.00004
|
NM_001111.5(ADAR):c.*2317C>T
|
rs367964862
|
0.00004
|
NM_001111.5(ADAR):c.*590G>A
|
rs908072891
|
0.00004
|
NM_001111.5(ADAR):c.*989C>T
|
rs1485739737
|
0.00004
|
NM_001111.5(ADAR):c.-85G>A
|
rs1470901197
|
0.00004
|
NM_001111.5(ADAR):c.1079G>A (p.Arg360Gln)
|
rs149091481
|
0.00004
|
NM_001111.5(ADAR):c.1177A>G (p.Asn393Asp)
|
rs751288252
|
0.00004
|
NM_001111.5(ADAR):c.1402G>A (p.Ala468Thr)
|
rs761708272
|
0.00004
|
NM_001111.5(ADAR):c.1466G>A (p.Arg489Gln)
|
rs751656552
|
0.00004
|
NM_001111.5(ADAR):c.1559A>C (p.Glu520Ala)
|
rs916828871
|
0.00004
|
NM_001111.5(ADAR):c.1801A>G (p.Thr601Ala)
|
rs556625861
|
0.00004
|
NM_001111.5(ADAR):c.1867A>G (p.Met623Val)
|
rs1481646805
|
0.00004
|
NM_001111.5(ADAR):c.2314G>A (p.Val772Ile)
|
rs763229776
|
0.00004
|
NM_001111.5(ADAR):c.2407G>T (p.Gly803Cys)
|
rs1277475981
|
0.00004
|
NM_001111.5(ADAR):c.2762+10G>A
|
rs879809934
|
0.00004
|
NM_001111.5(ADAR):c.3201G>A (p.Leu1067=)
|
rs750105086
|
0.00004
|
NM_001111.5(ADAR):c.935A>T (p.Asp312Val)
|
rs200192885
|
0.00004
|
NM_001122681.2(SH3BP2):c.*6660A>G
|
rs886059390
|
0.00004
|
NM_001122681.2(SH3BP2):c.1295G>A (p.Arg432Gln)
|
rs200226629
|
0.00004
|
NM_001122681.2(SH3BP2):c.1331C>T (p.Ser444Leu)
|
rs137947663
|
0.00004
|
NM_001122681.2(SH3BP2):c.1351-13C>T
|
rs367963191
|
0.00004
|
NM_001122681.2(SH3BP2):c.1573G>A (p.Glu525Lys)
|
rs142735744
|
0.00004
|
NM_001122681.2(SH3BP2):c.1666G>A (p.Gly556Ser)
|
rs201197278
|
0.00004
|
NM_001122681.2(SH3BP2):c.947C>T (p.Ser316Phe)
|
rs1235042756
|
0.00004
|
NM_001127511.3(APC):c.-167G>A
|
rs1278244063
|
0.00004
|
NM_001127671.2(LIFR):c.2462C>G (p.Pro821Arg)
|
rs139248720
|
0.00004
|
NM_001171.6(ABCC6):c.1780-11G>A
|
rs532189625
|
0.00004
|
NM_001171.6(ABCC6):c.1798C>T (p.Arg600Cys)
|
rs72653777
|
0.00004
|
NM_001171.6(ABCC6):c.2125G>A (p.Glu709Lys)
|
rs114303883
|
0.00004
|
NM_001171.6(ABCC6):c.259G>A (p.Val87Met)
|
rs1021031399
|
0.00004
|
NM_001171.6(ABCC6):c.3043C>T (p.Arg1015Trp)
|
rs756768329
|
0.00004
|
NM_001171.6(ABCC6):c.3320T>C (p.Val1107Ala)
|
rs780276741
|
0.00004
|
NM_001171.6(ABCC6):c.3460G>A (p.Val1154Ile)
|
rs147794514
|
0.00004
|
NM_001171.6(ABCC6):c.3787G>A (p.Gly1263Arg)
|
rs760376992
|
0.00004
|
NM_001171.6(ABCC6):c.4069C>T (p.Arg1357Trp)
|
rs63750428
|
0.00004
|
NM_001171.6(ABCC6):c.4130C>T (p.Thr1377Met)
|
rs371122482
|
0.00004
|
NM_001171.6(ABCC6):c.4294G>A (p.Val1432Met)
|
rs531418668
|
0.00004
|
NM_001171.6(ABCC6):c.4382G>A (p.Arg1461His)
|
rs57288618
|
0.00004
|
NM_001171.6(ABCC6):c.4441G>A (p.Gly1481Ser)
|
rs63751279
|
0.00004
|
NM_001199138.2(NLRC4):c.1090C>T (p.His364Tyr)
|
rs1193792961
|
0.00004
|
NM_001199138.2(NLRC4):c.1162C>T (p.Arg388Trp)
|
rs938626438
|
0.00004
|
NM_001199138.2(NLRC4):c.1163G>A (p.Arg388Gln)
|
rs565573487
|
0.00004
|
NM_001199138.2(NLRC4):c.1363C>T (p.Leu455Phe)
|
rs763620987
|
0.00004
|
NM_001199138.2(NLRC4):c.1478A>G (p.Tyr493Cys)
|
rs1234981264
|
0.00004
|
NM_001199138.2(NLRC4):c.1628A>C (p.Gln543Pro)
|
rs148732979
|
0.00004
|
NM_001199138.2(NLRC4):c.2687T>A (p.Leu896Gln)
|
rs760231283
|
0.00004
|
NM_001199138.2(NLRC4):c.2925A>C (p.Lys975Asn)
|
rs373084451
|
0.00004
|
NM_001199138.2(NLRC4):c.3025G>T (p.Asp1009Tyr)
|
rs374967155
|
0.00004
|
NM_001199138.2(NLRC4):c.772T>C (p.Cys258Arg)
|
rs916856506
|
0.00004
|
NM_001199397.3(NEK1):c.2977C>G (p.Pro993Ala)
|
rs745888585
|
0.00004
|
NM_001243133.2(NLRP3):c.-629C>T
|
rs200090360
|
0.00004
|
NM_001243133.2(NLRP3):c.-74G>A
|
rs202076321
|
0.00004
|
NM_001243133.2(NLRP3):c.1090C>A (p.Arg364=)
|
rs994458759
|
0.00004
|
NM_001243133.2(NLRP3):c.1625C>T (p.Thr542Met)
|
rs199856287
|
0.00004
|
NM_001243133.2(NLRP3):c.1780T>C (p.Leu594=)
|
rs895366086
|
0.00004
|
NM_001243133.2(NLRP3):c.2270G>C (p.Arg757Thr)
|
rs201466599
|
0.00004
|
NM_001243133.2(NLRP3):c.2761A>G (p.Thr921Ala)
|
rs200089542
|
0.00004
|
NM_001243133.2(NLRP3):c.2835A>G (p.Glu945=)
|
rs367694129
|
0.00004
|
NM_001243133.2(NLRP3):c.329G>A (p.Ser110Asn)
|
rs202050558
|
0.00004
|
NM_001243133.2(NLRP3):c.476G>T (p.Ser159Ile)
|
rs374170024
|
0.00004
|
NM_001270508.2(TNFAIP3):c.1182C>A (p.Phe394Leu)
|
rs762710607
|
0.00004
|
NM_001282225.2(ADA2):c.1033G>A (p.Ala345Thr)
|
rs752798667
|
0.00004
|
NM_001282225.2(ADA2):c.134G>A (p.Arg45Gln)
|
rs571235882
|
0.00004
|
NM_001282225.2(ADA2):c.1442+6T>C
|
rs369050563
|
0.00004
|
NM_001282225.2(ADA2):c.272A>G (p.His91Arg)
|
rs149466386
|
0.00004
|
NM_001282225.2(ADA2):c.435G>C (p.Gln145His)
|
rs752626692
|
0.00004
|
NM_001282225.2(ADA2):c.461G>A (p.Arg154His)
|
rs545602214
|
0.00004
|
NM_001282225.2(ADA2):c.707A>G (p.Tyr236Cys)
|
rs145966045
|
0.00004
|
NM_001282225.2(ADA2):c.729G>A (p.Met243Ile)
|
rs151014930
|
0.00004
|
NM_001330360.2(POLA1):c.3955A>G (p.Ile1319Val)
|
rs756416451
|
0.00004
|
NM_001353214.3(DYM):c.543T>G (p.Val181=)
|
rs759683937
|
0.00004
|
NM_001366385.1(CARD14):c.203T>C (p.Met68Thr)
|
rs773633754
|
0.00004
|
NM_001366385.1(CARD14):c.2735C>G (p.Thr912Ser)
|
rs201965466
|
0.00004
|
NM_001366385.1(CARD14):c.433C>A (p.Gln145Lys)
|
rs781101097
|
0.00004
|
NM_001366385.1(CARD14):c.45C>T (p.Asp15=)
|
rs768959428
|
0.00004
|
NM_001366385.1(CARD14):c.544C>T (p.Arg182Cys)
|
rs372403419
|
0.00004
|
NM_001366385.1(CARD14):c.694G>A (p.Glu232Lys)
|
rs200837077
|
0.00004
|
NM_001367624.2(ZNF469):c.11546G>A (p.Arg3849Gln)
|
rs775672255
|
0.00004
|
NM_001367624.2(ZNF469):c.11566C>T (p.Arg3856Cys)
|
rs762894872
|
0.00004
|
NM_001367624.2(ZNF469):c.1719C>T (p.His573=)
|
rs552893295
|
0.00004
|
NM_001367624.2(ZNF469):c.4849C>T (p.Pro1617Ser)
|
rs557351664
|
0.00004
|
NM_001367624.2(ZNF469):c.536G>C (p.Gly179Ala)
|
rs760014906
|
0.00004
|
NM_001367624.2(ZNF469):c.6846C>T (p.Ala2282=)
|
rs748097865
|
0.00004
|
NM_001367624.2(ZNF469):c.8080C>T (p.Arg2694Cys)
|
rs540443650
|
0.00004
|
NM_001367624.2(ZNF469):c.81G>A (p.Pro27=)
|
rs534464702
|
0.00004
|
NM_001370466.1(NOD2):c.1088A>T (p.Asp363Val)
|
rs769622495
|
0.00004
|
NM_001370466.1(NOD2):c.1178G>A (p.Arg393His)
|
rs199475913
|
0.00004
|
NM_001370466.1(NOD2):c.1196G>A (p.Arg399His)
|
rs562225614
|
0.00004
|
NM_001370466.1(NOD2):c.1198C>T (p.Pro400Ser)
|
rs760982375
|
0.00004
|
NM_001370466.1(NOD2):c.1234C>T (p.Arg412Cys)
|
rs375201229
|
0.00004
|
NM_001370466.1(NOD2):c.1322G>A (p.Arg441His)
|
rs775728252
|
0.00004
|
NM_001370466.1(NOD2):c.1706C>T (p.Thr569Met)
|
rs142077546
|
0.00004
|
NM_001370466.1(NOD2):c.178C>T (p.Arg60Cys)
|
rs374128251
|
0.00004
|
NM_001370466.1(NOD2):c.1819A>G (p.Arg607Gly)
|
rs970949991
|
0.00004
|
NM_001370466.1(NOD2):c.1894G>A (p.Val632Met)
|
rs570167996
|
0.00004
|
NM_001370466.1(NOD2):c.1918G>A (p.Glu640Lys)
|
rs774425599
|
0.00004
|
NM_001370466.1(NOD2):c.1931T>G (p.Leu644Arg)
|
rs754325924
|
0.00004
|
NM_001370466.1(NOD2):c.1950C>G (p.Phe650Leu)
|
rs374116563
|
0.00004
|
NM_001370466.1(NOD2):c.1A>G (p.Met1Val)
|
rs372321755
|
0.00004
|
NM_001370466.1(NOD2):c.2024G>A (p.Arg675Gln)
|
rs139104022
|
0.00004
|
NM_001370466.1(NOD2):c.2116G>A (p.Val706Met)
|
rs746055479
|
0.00004
|
NM_001370466.1(NOD2):c.2185C>T (p.Arg729Trp)
|
rs376201089
|
0.00004
|
NM_001370466.1(NOD2):c.2198G>A (p.Arg733His)
|
rs763955590
|
0.00004
|
NM_001370466.1(NOD2):c.2284C>T (p.Leu762Phe)
|
rs773758818
|
0.00004
|
NM_001370466.1(NOD2):c.2407C>T (p.Arg803Ter)
|
rs760623178
|
0.00004
|
NM_001370466.1(NOD2):c.2408G>A (p.Arg803Gln)
|
rs770915641
|
0.00004
|
NM_001370466.1(NOD2):c.2465+6T>A
|
rs201329309
|
0.00004
|
NM_001370466.1(NOD2):c.2558A>G (p.Asn853Ser)
|
rs374506720
|
0.00004
|
NM_001370466.1(NOD2):c.2631G>A (p.Leu877=)
|
rs142559533
|
0.00004
|
NM_001370466.1(NOD2):c.2852G>A (p.Gly951Glu)
|
rs104895457
|
0.00004
|
NM_001370466.1(NOD2):c.2917G>A (p.Ala973Thr)
|
rs1282634444
|
0.00004
|
NM_001370466.1(NOD2):c.417A>T (p.Glu139Asp)
|
rs749605438
|
0.00004
|
NM_001370466.1(NOD2):c.509C>A (p.Ala170Asp)
|
rs373838219
|
0.00004
|
NM_001370466.1(NOD2):c.605C>T (p.Thr202Met)
|
rs529640892
|
0.00004
|
NM_001370466.1(NOD2):c.631A>G (p.Ser211Gly)
|
rs1001861018
|
0.00004
|
NM_001370466.1(NOD2):c.653C>T (p.Thr218Met)
|
rs148516118
|
0.00004
|
NM_001370466.1(NOD2):c.769A>G (p.Thr257Ala)
|
rs369740939
|
0.00004
|
NM_001370466.1(NOD2):c.821C>T (p.Ala274Val)
|
rs104895426
|
0.00004
|
NM_001370466.1(NOD2):c.956G>A (p.Arg319Gln)
|
rs759520552
|
0.00004
|
NM_001375808.2(LPIN2):c.*1559A>G
|
rs886053748
|
0.00004
|
NM_001375808.2(LPIN2):c.*1810A>G
|
rs886740636
|
0.00004
|
NM_001375808.2(LPIN2):c.*2724A>G
|
rs886053744
|
0.00004
|
NM_001375808.2(LPIN2):c.*804G>A
|
rs1294529732
|
0.00004
|
NM_001375808.2(LPIN2):c.*828T>G
|
rs776259595
|
0.00004
|
NM_001375808.2(LPIN2):c.*834G>A
|
rs886053753
|
0.00004
|
NM_001375808.2(LPIN2):c.-10+1219C>T
|
rs762246311
|
0.00004
|
NM_001375808.2(LPIN2):c.1074G>A (p.Met358Ile)
|
rs750095569
|
0.00004
|
NM_001375808.2(LPIN2):c.1282G>A (p.Gly428Ser)
|
rs768189312
|
0.00004
|
NM_001375808.2(LPIN2):c.1375C>G (p.Leu459Val)
|
rs781705610
|
0.00004
|
NM_001375808.2(LPIN2):c.1435G>A (p.Glu479Lys)
|
rs571085377
|
0.00004
|
NM_001375808.2(LPIN2):c.1456+4C>G
|
rs373685201
|
0.00004
|
NM_001375808.2(LPIN2):c.1796C>T (p.Pro599Leu)
|
rs372850864
|
0.00004
|
NM_001375808.2(LPIN2):c.2434C>T (p.Arg812Cys)
|
rs754916357
|
0.00004
|
NM_001375808.2(LPIN2):c.2450A>G (p.Tyr817Cys)
|
rs759880645
|
0.00004
|
NM_001375808.2(LPIN2):c.2567T>G (p.Leu856Arg)
|
rs768061281
|
0.00004
|
NM_001375808.2(LPIN2):c.56A>G (p.Tyr19Cys)
|
rs371299772
|
0.00004
|
NM_001375808.2(LPIN2):c.959C>T (p.Thr320Ile)
|
rs150648432
|
0.00004
|
NM_001558.4(IL10RA):c.*1722T>C
|
rs886047714
|
0.00004
|
NM_001558.4(IL10RA):c.*543G>A
|
rs940437717
|
0.00004
|
NM_001558.4(IL10RA):c.1414G>A (p.Gly472Ser)
|
rs138626531
|
0.00004
|
NM_001558.4(IL10RA):c.1539G>A (p.Thr513=)
|
rs372503247
|
0.00004
|
NM_001558.4(IL10RA):c.1693C>A (p.Leu565Met)
|
rs375201461
|
0.00004
|
NM_001558.4(IL10RA):c.17T>C (p.Val6Ala)
|
rs768177135
|
0.00004
|
NM_001558.4(IL10RA):c.457G>A (p.Ala153Thr)
|
rs144476761
|
0.00004
|
NM_001558.4(IL10RA):c.536C>T (p.Thr179Met)
|
rs564148493
|
0.00004
|
NM_001558.4(IL10RA):c.67+15C>T
|
rs886047708
|
0.00004
|
NM_001611.5(ACP5):c.137G>A (p.Arg46Gln)
|
rs201184983
|
0.00004
|
NM_001611.5(ACP5):c.166C>T (p.Arg56Trp)
|
rs371591030
|
0.00004
|
NM_001611.5(ACP5):c.167G>A (p.Arg56Gln)
|
rs922892618
|
0.00004
|
NM_001611.5(ACP5):c.386G>A (p.Arg129His)
|
rs199580546
|
0.00004
|
NM_001611.5(ACP5):c.964C>T (p.Arg322Ter)
|
rs146436811
|
0.00004
|
NM_001611.5(ACP5):c.973C>T (p.Pro325Ser)
|
rs1024960552
|
0.00004
|
NM_001754.5(RUNX1):c.1265A>C (p.Glu422Ala)
|
rs2056451758
|
0.00004
|
NM_001754.5(RUNX1):c.56G>A (p.Arg19Lys)
|
rs759078185
|
0.00004
|
NM_001754.5(RUNX1):c.801G>A (p.Met267Ile)
|
rs757570529
|
0.00004
|
NM_001754.5(RUNX1):c.925G>A (p.Gly309Ser)
|
rs752288830
|
0.00004
|
NM_001844.5(COL2A1):c.3120C>T (p.Pro1040=)
|
rs367982631
|
0.00004
|
NM_001852.4(COL9A2):c.*369C>T
|
rs773649280
|
0.00004
|
NM_001852.4(COL9A2):c.1068G>A (p.Pro356=)
|
rs752181922
|
0.00004
|
NM_001852.4(COL9A2):c.142G>C (p.Gly48Arg)
|
rs887364532
|
0.00004
|
NM_001853.4(COL9A3):c.1450G>A (p.Gly484Ser)
|
rs767106237
|
0.00004
|
NM_001853.4(COL9A3):c.1547C>T (p.Pro516Leu)
|
rs201337557
|
0.00004
|
NM_001853.4(COL9A3):c.218C>T (p.Pro73Leu)
|
rs768298010
|
0.00004
|
NM_001854.4(COL11A1):c.2916+3A>G
|
rs200515572
|
0.00004
|
NM_001999.4(FBN2):c.*879C>T
|
rs774452401
|
0.00004
|
NM_001999.4(FBN2):c.1078+12A>C
|
rs769211487
|
0.00004
|
NM_001999.4(FBN2):c.1968T>C (p.Cys656=)
|
rs750685055
|
0.00004
|
NM_001999.4(FBN2):c.2722G>A (p.Glu908Lys)
|
rs1204772554
|
0.00004
|
NM_001999.4(FBN2):c.3342G>A (p.Thr1114=)
|
rs532983875
|
0.00004
|
NM_001999.4(FBN2):c.3602T>C (p.Ile1201Thr)
|
rs755127278
|
0.00004
|
NM_001999.4(FBN2):c.377G>A (p.Arg126His)
|
rs528614556
|
0.00004
|
NM_001999.4(FBN2):c.4259G>A (p.Ser1420Asn)
|
rs751406554
|
0.00004
|
NM_001999.4(FBN2):c.6004A>G (p.Asn2002Asp)
|
rs773305589
|
0.00004
|
NM_001999.4(FBN2):c.6556C>G (p.Gln2186Glu)
|
rs1415043313
|
0.00004
|
NM_001999.4(FBN2):c.6628C>T (p.Arg2210Cys)
|
rs200158069
|
0.00004
|
NM_001999.4(FBN2):c.704C>T (p.Thr235Met)
|
rs367767903
|
0.00004
|
NM_001999.4(FBN2):c.8230T>G (p.Tyr2744Asp)
|
rs752138290
|
0.00004
|
NM_001999.4(FBN2):c.8444A>C (p.Lys2815Thr)
|
rs757028268
|
0.00004
|
NM_002317.7(LOX):c.1222T>C (p.Tyr408His)
|
rs765126342
|
0.00004
|
NM_002451.4(MTAP):c.*3276A>G
|
rs1038408600
|
0.00004
|
NM_002451.4(MTAP):c.*3774A>G
|
rs949366316
|
0.00004
|
NM_002474.3(MYH11):c.4900G>A (p.Asp1634Asn)
|
rs549820613
|
0.00004
|
NM_002609.4(PDGFRB):c.2463+4C>T
|
rs557338313
|
0.00004
|
NM_002661.5(PLCG2):c.1387G>A (p.Asp463Asn)
|
rs752906992
|
0.00004
|
NM_002661.5(PLCG2):c.1559A>G (p.Asp520Gly)
|
rs201391996
|
0.00004
|
NM_002661.5(PLCG2):c.1882G>C (p.Glu628Gln)
|
rs778265649
|
0.00004
|
NM_002661.5(PLCG2):c.2099G>A (p.Arg700Gln)
|
rs566611968
|
0.00004
|
NM_002661.5(PLCG2):c.2164A>G (p.Lys722Glu)
|
rs761399374
|
0.00004
|
NM_002661.5(PLCG2):c.2191C>A (p.Leu731Met)
|
rs377095061
|
0.00004
|
NM_002661.5(PLCG2):c.2235+5G>A
|
rs756659964
|
0.00004
|
NM_002661.5(PLCG2):c.2307+4C>T
|
rs745912221
|
0.00004
|
NM_002661.5(PLCG2):c.2578G>A (p.Val860Ile)
|
rs370187601
|
0.00004
|
NM_002661.5(PLCG2):c.2580C>T (p.Val860=)
|
rs776770937
|
0.00004
|
NM_002661.5(PLCG2):c.2600A>G (p.Lys867Arg)
|
rs767599145
|
0.00004
|
NM_002661.5(PLCG2):c.2894G>A (p.Ser965Asn)
|
rs778362699
|
0.00004
|
NM_002661.5(PLCG2):c.3289A>G (p.Asn1097Asp)
|
rs771322094
|
0.00004
|
NM_002661.5(PLCG2):c.3343C>T (p.Pro1115Ser)
|
rs372606303
|
0.00004
|
NM_002661.5(PLCG2):c.3780C>G (p.Asn1260Lys)
|
rs758825034
|
0.00004
|
NM_002661.5(PLCG2):c.502A>G (p.Thr168Ala)
|
rs753974933
|
0.00004
|
NM_002661.5(PLCG2):c.564+19C>T
|
rs564767670
|
0.00004
|
NM_002661.5(PLCG2):c.594C>G (p.Ser198Arg)
|
rs368738612
|
0.00004
|
NM_002661.5(PLCG2):c.97T>C (p.Phe33Leu)
|
rs773040139
|
0.00004
|
NM_002834.5(PTPN11):c.893A>G (p.Asn298Ser)
|
rs572274623
|
0.00004
|
NM_002860.4(ALDH18A1):c.2177G>A (p.Arg726His)
|
rs773714478
|
0.00004
|
NM_003036.4(SKI):c.1042G>A (p.Glu348Lys)
|
rs370217718
|
0.00004
|
NM_003036.4(SKI):c.1547C>T (p.Pro516Leu)
|
rs781193859
|
0.00004
|
NM_003036.4(SKI):c.1906C>T (p.Arg636Cys)
|
rs143354709
|
0.00004
|
NM_003183.6(ADAM17):c.1333G>A (p.Glu445Lys)
|
rs764909573
|
0.00004
|
NM_003183.6(ADAM17):c.1345-3A>G
|
rs377134738
|
0.00004
|
NM_003183.6(ADAM17):c.1511G>A (p.Ser504Asn)
|
rs200446953
|
0.00004
|
NM_003183.6(ADAM17):c.161C>T (p.Ser54Leu)
|
rs765820179
|
0.00004
|
NM_003183.6(ADAM17):c.1685A>G (p.Glu562Gly)
|
rs750249923
|
0.00004
|
NM_003183.6(ADAM17):c.644G>T (p.Arg215Ile)
|
rs142946965
|
0.00004
|
NM_003238.6(TGFB2):c.*2007C>T
|
rs1007087694
|
0.00004
|
NM_003238.6(TGFB2):c.*2089A>C
|
rs886045988
|
0.00004
|
NM_003238.6(TGFB2):c.1053G>A (p.Pro351=)
|
rs142741166
|
0.00004
|
NM_003238.6(TGFB2):c.194C>T (p.Pro65Leu)
|
rs750324465
|
0.00004
|
NM_003238.6(TGFB2):c.518A>G (p.Lys173Arg)
|
rs749692412
|
0.00004
|
NM_003238.6(TGFB2):c.697C>T (p.Pro233Ser)
|
rs753572174
|
0.00004
|
NM_003239.5(TGFB3):c.-30G>A
|
rs770828281
|
0.00004
|
NM_003239.5(TGFB3):c.188C>A (p.Thr63Asn)
|
rs757664433
|
0.00004
|
NM_003239.5(TGFB3):c.626G>A (p.Arg209His)
|
rs779897294
|
0.00004
|
NM_003239.5(TGFB3):c.850C>T (p.Pro284Ser)
|
rs1018415204
|
0.00004
|
NM_003239.5(TGFB3):c.872C>T (p.Pro291Leu)
|
rs145121701
|
0.00004
|
NM_003242.6(TGFBR2):c.*1572A>G
|
rs878857301
|
0.00004
|
NM_003242.6(TGFBR2):c.*2340T>C
|
rs886058328
|
0.00004
|
NM_003242.6(TGFBR2):c.*352A>G
|
rs565524213
|
0.00004
|
NM_003242.6(TGFBR2):c.*988C>T
|
rs138036906
|
0.00004
|
NM_003242.6(TGFBR2):c.1015C>T (p.Arg339Trp)
|
rs761991787
|
0.00004
|
NM_003242.6(TGFBR2):c.116C>A (p.Thr39Asn)
|
rs146277116
|
0.00004
|
NM_003242.6(TGFBR2):c.1316T>C (p.Val439Ala)
|
rs1050833
|
0.00004
|
NM_003242.6(TGFBR2):c.394A>G (p.Thr132Ala)
|
rs146497045
|
0.00004
|
NM_003242.6(TGFBR2):c.617C>T (p.Thr206Met)
|
rs150022335
|
0.00004
|
NM_003242.6(TGFBR2):c.620G>A (p.Arg207Gln)
|
rs371209879
|
0.00004
|
NM_003242.6(TGFBR2):c.696C>T (p.Ala232=)
|
rs768508812
|
0.00004
|
NM_003242.6(TGFBR2):c.69G>T (p.Thr23=)
|
rs878854612
|
0.00004
|
NM_003242.6(TGFBR2):c.893A>G (p.Asn298Ser)
|
rs751587466
|
0.00004
|
NM_003242.6(TGFBR2):c.938G>A (p.Arg313Gln)
|
rs200361387
|
0.00004
|
NM_003242.6(TGFBR2):c.95-3C>A
|
rs375330013
|
0.00004
|
NM_003977.4(AIP):c.355C>T (p.Arg119Trp)
|
rs368933035
|
0.00004
|
NM_003977.4(AIP):c.692C>T (p.Thr231Met)
|
rs532170807
|
0.00004
|
NM_003977.4(AIP):c.70G>C (p.Glu24Gln)
|
rs267606568
|
0.00004
|
NM_003978.5(PSTPIP1):c.1027G>A (p.Gly343Ser)
|
rs370404621
|
0.00004
|
NM_003978.5(PSTPIP1):c.1093C>T (p.Arg365Trp)
|
rs748306987
|
0.00004
|
NM_003978.5(PSTPIP1):c.212A>G (p.Asn71Ser)
|
rs961668608
|
0.00004
|
NM_003978.5(PSTPIP1):c.214T>C (p.Ser72Pro)
|
rs866295227
|
0.00004
|
NM_003978.5(PSTPIP1):c.548C>T (p.Ser183Leu)
|
rs772549153
|
0.00004
|
NM_003978.5(PSTPIP1):c.605G>A (p.Arg202Gln)
|
rs372461120
|
0.00004
|
NM_003978.5(PSTPIP1):c.765G>A (p.Thr255=)
|
rs368685017
|
0.00004
|
NM_003978.5(PSTPIP1):c.839-16G>A
|
rs776337082
|
0.00004
|
NM_004239.4(TRIP11):c.5368G>C (p.Gly1790Arg)
|
rs751740362
|
0.00004
|
NM_004273.5(CHST3):c.*3905C>T
|
rs886047181
|
0.00004
|
NM_004364.5(CEBPA):c.107G>A (p.Gly36Asp)
|
rs746522150
|
0.00004
|
NM_004364.5(CEBPA):c.142G>A (p.Ala48Thr)
|
rs892805896
|
0.00004
|
NM_004364.5(CEBPA):c.155T>C (p.Leu52Pro)
|
rs936973108
|
0.00004
|
NM_004364.5(CEBPA):c.325C>T (p.Pro109Ser)
|
rs1027991203
|
0.00004
|
NM_004364.5(CEBPA):c.392A>T (p.Tyr131Phe)
|
rs1300977671
|
0.00004
|
NM_004364.5(CEBPA):c.860T>C (p.Val287Ala)
|
rs1250168874
|
0.00004
|
NM_004364.5(CEBPA):c.979C>T (p.Arg327Trp)
|
rs1306818311
|
0.00004
|
NM_004371.4(COPA):c.2233C>T (p.Arg745Cys)
|
rs763748181
|
0.00004
|
NM_004612.4(TGFBR1):c.1065A>C (p.Ala355=)
|
rs758280185
|
0.00004
|
NM_004612.4(TGFBR1):c.1091C>G (p.Thr364Ser)
|
rs201050937
|
0.00004
|
NM_004752.4(GCM2):c.1364G>A (p.Arg455Gln)
|
rs145103332
|
0.00004
|
NM_004836.7(EIF2AK3):c.1651-4T>C
|
rs750573955
|
0.00004
|
NM_004944.4(DNASE1L3):c.730G>A (p.Val244Ile)
|
rs778387758
|
0.00004
|
NM_005188.4(CBL):c.1511C>T (p.Pro504Leu)
|
rs533554769
|
0.00004
|
NM_005188.4(CBL):c.2083G>A (p.Glu695Lys)
|
rs143975631
|
0.00004
|
NM_005373.3(MPL):c.1609C>T (p.Arg537Trp)
|
rs148784027
|
0.00004
|
NM_005373.3(MPL):c.548C>T (p.Thr183Met)
|
rs137952228
|
0.00004
|
NM_005529.7(HSPG2):c.11904C>T (p.Phe3968=)
|
rs759194108
|
0.00004
|
NM_005529.7(HSPG2):c.4868+4G>A
|
rs200689461
|
0.00004
|
NM_005546.4(ITK):c.33C>A (p.Leu11=)
|
rs765948222
|
0.00004
|
NM_005546.4(ITK):c.559C>T (p.Pro187Ser)
|
rs1156578676
|
0.00004
|
NM_005902.4(SMAD3):c.*1316G>A
|
rs996604810
|
0.00004
|
NM_005902.4(SMAD3):c.*789A>G
|
rs191679355
|
0.00004
|
NM_005902.4(SMAD3):c.*805G>A
|
rs770764038
|
0.00004
|
NM_005902.4(SMAD3):c.74G>T (p.Gly25Val)
|
rs191612061
|
0.00004
|
NM_006182.4(DDR2):c.418G>T (p.Val140Leu)
|
rs756623313
|
0.00004
|
NM_006397.3(RNASEH2A):c.175G>C (p.Asp59His)
|
rs766343269
|
0.00004
|
NM_006397.3(RNASEH2A):c.198A>T (p.Ala66=)
|
rs767723275
|
0.00004
|
NM_006397.3(RNASEH2A):c.518C>T (p.Pro173Leu)
|
rs369355807
|
0.00004
|
NM_006397.3(RNASEH2A):c.638-3C>T
|
rs780614048
|
0.00004
|
NM_006397.3(RNASEH2A):c.874G>A (p.Gly292Ser)
|
rs768346345
|
0.00004
|
NM_006397.3(RNASEH2A):c.894C>A (p.Ser298Arg)
|
rs760066036
|
0.00004
|
NM_006929.5(SKIC2):c.1132G>A (p.Gly378Arg)
|
rs776131482
|
0.00004
|
NM_006929.5(SKIC2):c.1694C>T (p.Ala565Val)
|
rs746401418
|
0.00004
|
NM_006929.5(SKIC2):c.1890C>T (p.Arg630=)
|
rs779331758
|
0.00004
|
NM_006929.5(SKIC2):c.2764C>G (p.Pro922Ala)
|
rs142436411
|
0.00004
|
NM_006929.5(SKIC2):c.954C>T (p.Ala318=)
|
rs577271106
|
0.00004
|
NM_006929.5(SKIC2):c.990C>T (p.Val330=)
|
rs778024754
|
0.00004
|
NM_007194.4(CHEK2):c.1336A>G (p.Asn446Asp)
|
rs121908705
|
0.00004
|
NM_007194.4(CHEK2):c.1423T>A (p.Phe475Ile)
|
rs370968992
|
0.00004
|
NM_007194.4(CHEK2):c.400G>C (p.Asp134His)
|
rs372874441
|
0.00004
|
NM_007194.4(CHEK2):c.962A>C (p.Glu321Ala)
|
rs374395284
|
0.00004
|
NM_012275.3(IL36RN):c.*1540G>A
|
rs886054770
|
0.00004
|
NM_012275.3(IL36RN):c.302A>T (p.Tyr101Phe)
|
rs769214649
|
0.00004
|
NM_012275.3(IL36RN):c.349C>G (p.Pro117Ala)
|
rs780273771
|
0.00004
|
NM_015474.4(SAMHD1):c.1492T>A (p.Phe498Ile)
|
rs145323435
|
0.00004
|
NM_015474.4(SAMHD1):c.208+8C>T
|
rs543987630
|
0.00004
|
NM_015474.4(SAMHD1):c.510G>C (p.Gly170=)
|
rs767971429
|
0.00004
|
NM_015474.4(SAMHD1):c.993C>T (p.Tyr331=)
|
rs775726168
|
0.00004
|
NM_017617.5(NOTCH1):c.865+10C>T
|
rs760702631
|
0.00004
|
NM_018699.4(PRDM5):c.839A>G (p.Lys280Arg)
|
rs183142477
|
0.00004
|
NM_021625.5(TRPV4):c.205A>C (p.Met69Leu)
|
rs200199102
|
0.00004
|
NM_022124.6(CDH23):c.2251G>A (p.Gly751Arg)
|
rs41281306
|
0.00004
|
NM_022124.6(CDH23):c.269G>A (p.Arg90Gln)
|
rs397517317
|
0.00004
|
NM_022124.6(CDH23):c.2804G>A (p.Arg935His)
|
rs748194042
|
0.00004
|
NM_022124.6(CDH23):c.5692G>A (p.Ala1898Thr)
|
rs548937425
|
0.00004
|
NM_022124.6(CDH23):c.6808C>T (p.Arg2270Cys)
|
rs755800639
|
0.00004
|
NM_022124.6(CDH23):c.7942G>A (p.Val2648Met)
|
rs749501038
|
0.00004
|
NM_022124.6(CDH23):c.9557G>A (p.Arg3186Gln)
|
rs763303827
|
0.00004
|
NM_022124.6(CDH23):c.9566G>A (p.Arg3189Gln)
|
rs727502936
|
0.00004
|
NM_022124.6(CDH23):c.9616C>T (p.Arg3206Cys)
|
rs778711089
|
0.00004
|
NM_022124.6(CDH23):c.982G>A (p.Ala328Thr)
|
rs374545987
|
0.00004
|
NM_022168.4(IFIH1):c.1051A>G (p.Lys351Glu)
|
rs35207787
|
0.00004
|
NM_022168.4(IFIH1):c.1157G>A (p.Arg386His)
|
rs138611889
|
0.00004
|
NM_022168.4(IFIH1):c.145A>G (p.Thr49Ala)
|
rs747135877
|
0.00004
|
NM_022168.4(IFIH1):c.1641+4T>C
|
rs931264780
|
0.00004
|
NM_022168.4(IFIH1):c.1873C>A (p.His625Asn)
|
rs749942019
|
0.00004
|
NM_022168.4(IFIH1):c.2183G>A (p.Arg728Gln)
|
rs1266522773
|
0.00004
|
NM_022168.4(IFIH1):c.2417G>A (p.Arg806His)
|
rs562743627
|
0.00004
|
NM_022168.4(IFIH1):c.2456C>A (p.Ala819Asp)
|
rs200810568
|
0.00004
|
NM_022168.4(IFIH1):c.2548C>T (p.Arg850Ter)
|
rs750804689
|
0.00004
|
NM_022168.4(IFIH1):c.2622G>C (p.Leu874Phe)
|
rs760588876
|
0.00004
|
NM_022168.4(IFIH1):c.2857G>A (p.Asp953Asn)
|
rs751417093
|
0.00004
|
NM_022168.4(IFIH1):c.2858A>G (p.Asp953Gly)
|
rs148623633
|
0.00004
|
NM_022168.4(IFIH1):c.298A>G (p.Thr100Ala)
|
rs375449284
|
0.00004
|
NM_022168.4(IFIH1):c.467A>C (p.Glu156Ala)
|
rs144853750
|
0.00004
|
NM_022168.4(IFIH1):c.758C>T (p.Ser253Phe)
|
rs774782975
|
0.00004
|
NM_022168.4(IFIH1):c.769+4C>T
|
rs748285029
|
0.00004
|
NM_023110.3(FGFR1):c.2428C>T (p.His810Tyr)
|
rs759376422
|
0.00004
|
NM_023110.3(FGFR1):c.566G>A (p.Arg189His)
|
rs778166317
|
0.00004
|
NM_023110.3(FGFR1):c.937-14G>A
|
rs779223305
|
0.00004
|
NM_024408.4(NOTCH2):c.2192A>G (p.His731Arg)
|
rs782070613
|
0.00004
|
NM_024408.4(NOTCH2):c.2647A>G (p.Met883Val)
|
rs145079718
|
0.00004
|
NM_024408.4(NOTCH2):c.4142G>A (p.Ser1381Asn)
|
rs886044453
|
0.00004
|
NM_024408.4(NOTCH2):c.4294G>A (p.Asp1432Asn)
|
rs145336945
|
0.00004
|
NM_024408.4(NOTCH2):c.5398C>T (p.Arg1800Cys)
|
rs1450649026
|
0.00004
|
NM_024408.4(NOTCH2):c.5423C>T (p.Thr1808Ile)
|
rs144085962
|
0.00004
|
NM_024408.4(NOTCH2):c.5624G>A (p.Arg1875Gln)
|
rs148613210
|
0.00004
|
NM_024408.4(NOTCH2):c.5977A>G (p.Thr1993Ala)
|
rs779769077
|
0.00004
|
NM_024408.4(NOTCH2):c.6056G>A (p.Arg2019Gln)
|
rs201446896
|
0.00004
|
NM_024408.4(NOTCH2):c.6313C>T (p.Arg2105Trp)
|
rs372538600
|
0.00004
|
NM_024408.4(NOTCH2):c.6767G>A (p.Arg2256His)
|
rs148759277
|
0.00004
|
NM_024408.4(NOTCH2):c.7040G>A (p.Arg2347His)
|
rs201993620
|
0.00004
|
NM_024408.4(NOTCH2):c.7288C>T (p.Pro2430Ser)
|
rs141961602
|
0.00004
|
NM_024408.4(NOTCH2):c.875-9C>G
|
rs1324363153
|
0.00004
|
NM_024529.5(CDC73):c.*1074A>T
|
rs886045718
|
0.00004
|
NM_024529.5(CDC73):c.*1092A>G
|
rs886045720
|
0.00004
|
NM_024529.5(CDC73):c.*2455C>T
|
rs886045729
|
0.00004
|
NM_024529.5(CDC73):c.1236G>A (p.Met412Ile)
|
rs757006970
|
0.00004
|
NM_024570.4(RNASEH2B):c.193G>A (p.Val65Ile)
|
rs541903338
|
0.00004
|
NM_024570.4(RNASEH2B):c.202G>C (p.Glu68Gln)
|
rs145465454
|
0.00004
|
NM_024570.4(RNASEH2B):c.35G>A (p.Gly12Asp)
|
rs1237024427
|
0.00004
|
NM_024570.4(RNASEH2B):c.40C>T (p.Arg14Trp)
|
rs900876937
|
0.00004
|
NM_024570.4(RNASEH2B):c.697A>C (p.Lys233Gln)
|
rs774950202
|
0.00004
|
NM_024570.4(RNASEH2B):c.744A>C (p.Lys248Asn)
|
rs748144224
|
0.00004
|
NM_024570.4(RNASEH2B):c.830G>A (p.Ser277Asn)
|
rs200802557
|
0.00004
|
NM_024753.5(TTC21B):c.1768A>G (p.Met590Val)
|
rs777733112
|
0.00004
|
NM_030777.4(SLC2A10):c.*2409A>G
|
rs986161128
|
0.00004
|
NM_030777.4(SLC2A10):c.115G>A (p.Asp39Asn)
|
rs367623970
|
0.00004
|
NM_030777.4(SLC2A10):c.443T>C (p.Leu148Pro)
|
rs863223732
|
0.00004
|
NM_030777.4(SLC2A10):c.644G>A (p.Arg215Gln)
|
rs774497964
|
0.00004
|
NM_030777.4(SLC2A10):c.671C>G (p.Ala224Gly)
|
rs371261694
|
0.00004
|
NM_030777.4(SLC2A10):c.680A>G (p.Asn227Ser)
|
rs959288629
|
0.00004
|
NM_030777.4(SLC2A10):c.848C>A (p.Ala283Asp)
|
rs145994112
|
0.00004
|
NM_031229.4(RBCK1):c.1055G>A (p.Arg352Gln)
|
rs776253021
|
0.00004
|
NM_031229.4(RBCK1):c.132A>T (p.Gln44His)
|
rs145132343
|
0.00004
|
NM_031229.4(RBCK1):c.1480C>T (p.Arg494Cys)
|
rs749184826
|
0.00004
|
NM_031229.4(RBCK1):c.1489G>A (p.Val497Ile)
|
rs371527119
|
0.00004
|
NM_031229.4(RBCK1):c.59C>T (p.Ala20Val)
|
rs780587700
|
0.00004
|
NM_031229.4(RBCK1):c.807C>G (p.Asp269Glu)
|
rs111283441
|
0.00004
|
NM_031229.4(RBCK1):c.833A>T (p.Glu278Val)
|
rs758729708
|
0.00004
|
NM_031229.4(RBCK1):c.940C>T (p.Arg314Cys)
|
rs144105841
|
0.00004
|
NM_031229.4(RBCK1):c.941G>A (p.Arg314His)
|
rs759203606
|
0.00004
|
NM_032193.4(RNASEH2C):c.115G>A (p.Asp39Asn)
|
rs773527127
|
0.00004
|
NM_032193.4(RNASEH2C):c.175C>A (p.Leu59Ile)
|
rs764887792
|
0.00004
|
NM_032193.4(RNASEH2C):c.305C>T (p.Ser102Phe)
|
rs779295406
|
0.00004
|
NM_032193.4(RNASEH2C):c.434G>T (p.Arg145Leu)
|
rs774773395
|
0.00004
|
NM_032638.5(GATA2):c.1331C>T (p.Pro444Leu)
|
rs781161922
|
0.00004
|
NM_032638.5(GATA2):c.413T>C (p.Leu138Pro)
|
rs746362966
|
0.00004
|
NM_033629.6(TREX1):c.197A>G (p.Lys66Arg)
|
rs188508043
|
0.00004
|
NM_033629.6(TREX1):c.247G>A (p.Glu83Lys)
|
rs745434375
|
0.00004
|
NM_033629.6(TREX1):c.250A>G (p.Ile84Val)
|
rs775075513
|
0.00004
|
NM_033629.6(TREX1):c.296G>A (p.Cys99Tyr)
|
rs778869156
|
0.00004
|
NM_033629.6(TREX1):c.473C>T (p.Ala158Val)
|
rs762011967
|
0.00004
|
NM_033629.6(TREX1):c.581C>T (p.Ser194Leu)
|
rs531702332
|
0.00004
|
NM_033629.6(TREX1):c.8C>T (p.Ser3Leu)
|
rs140029866
|
0.00004
|
NM_052989.3(IFT122):c.2988-6C>T
|
rs749670705
|
0.00004
|
NM_052989.3(IFT122):c.3343G>T (p.Val1115Leu)
|
rs557159295
|
0.00004
|
NM_053025.4(MYLK):c.119G>A (p.Arg40Gln)
|
rs767877538
|
0.00004
|
NM_053025.4(MYLK):c.3982G>A (p.Val1328Met)
|
rs730880164
|
0.00004
|
NM_054027.6(ANKH):c.*309G>C
|
rs530153364
|
0.00004
|
NM_054027.6(ANKH):c.*4982T>C
|
rs901092803
|
0.00004
|
NM_054027.6(ANKH):c.*833T>C
|
rs995943291
|
0.00004
|
NM_054027.6(ANKH):c.313+12G>A
|
rs769050375
|
0.00004
|
NM_058172.6(ANTXR2):c.*3105A>G
|
rs982853737
|
0.00004
|
NM_058172.6(ANTXR2):c.*4847C>T
|
rs763414805
|
0.00004
|
NM_080628.3(TLDC2):c.*18-433T>C
|
rs757372495
|
0.00004
|
NM_080628.3(TLDC2):c.*18-466G>A
|
rs886056645
|
0.00004
|
NM_144687.3(NLRP12):c.*402G>A
|
rs886054603
|
0.00004
|
NM_144687.4(NLRP12):c.*161A>C
|
rs370149877
|
0.00004
|
NM_144687.4(NLRP12):c.-68G>A
|
rs746346212
|
0.00004
|
NM_144687.4(NLRP12):c.104C>T (p.Ala35Val)
|
rs373357561
|
0.00004
|
NM_144687.4(NLRP12):c.1091G>A (p.Gly364Asp)
|
rs376983164
|
0.00004
|
NM_144687.4(NLRP12):c.1102G>A (p.Ala368Thr)
|
rs541068679
|
0.00004
|
NM_144687.4(NLRP12):c.1855G>A (p.Glu619Lys)
|
rs139082917
|
0.00004
|
NM_144687.4(NLRP12):c.2015C>T (p.Ala672Val)
|
rs376751517
|
0.00004
|
NM_144687.4(NLRP12):c.2044G>A (p.Ala682Thr)
|
rs778688033
|
0.00004
|
NM_144687.4(NLRP12):c.2188G>C (p.Val730Leu)
|
rs776527127
|
0.00004
|
NM_144687.4(NLRP12):c.2278G>A (p.Glu760Lys)
|
rs202007906
|
0.00004
|
NM_144687.4(NLRP12):c.2572C>A (p.Leu858Ile)
|
rs766678083
|
0.00004
|
NM_144687.4(NLRP12):c.2622C>T (p.Asp874=)
|
rs368897676
|
0.00004
|
NM_144687.4(NLRP12):c.2753T>C (p.Leu918Pro)
|
rs777228735
|
0.00004
|
NM_144687.4(NLRP12):c.289+13C>T
|
rs776591533
|
0.00004
|
NM_144687.4(NLRP12):c.29T>C (p.Leu10Pro)
|
rs775129261
|
0.00004
|
NM_144687.4(NLRP12):c.815G>A (p.Trp272Ter)
|
rs752809784
|
0.00004
|
NM_148919.4(PSMB8):c.229G>A (p.Ala77Thr)
|
rs774341327
|
0.00004
|
NM_148919.4(PSMB8):c.487C>T (p.Arg163Trp)
|
rs55835906
|
0.00004
|
NM_148919.4(PSMB8):c.574C>T (p.Arg192Trp)
|
rs752232985
|
0.00004
|
NM_148919.4(PSMB8):c.814C>T (p.Arg272Trp)
|
rs371006338
|
0.00004
|
NM_173842.3(IL1RN):c.495C>T (p.Gly165=)
|
rs368843442
|
0.00004
|
NM_173842.3(IL1RN):c.68C>T (p.Thr23Met)
|
rs55860727
|
0.00004
|
NM_198253.3(TERT):c.3329C>T (p.Thr1110Met)
|
rs199422306
|
0.00004
|
NM_198282.4(STING1):c.32C>T (p.Pro11Leu)
|
rs146423746
|
0.00004
|
NM_198282.4(STING1):c.398T>A (p.Leu133His)
|
rs756483516
|
0.00004
|
NM_198282.4(STING1):c.548A>G (p.Asn183Ser)
|
rs201277595
|
0.00004
|
NM_199242.3(UNC13D):c.118-9G>C
|
rs527842266
|
0.00004
|
NM_199242.3(UNC13D):c.2137G>A (p.Gly713Ser)
|
rs115353346
|
0.00004
|
NM_207122.1(EXT2):c.-307G>T
|
rs569630494
|
0.00004
|
NM_207122.2(EXT2):c.1177C>T (p.Arg393Trp)
|
rs145903120
|
0.00004
|
NM_207122.2(EXT2):c.1277A>G (p.Tyr426Cys)
|
rs781283626
|
0.00004
|
NM_207122.2(EXT2):c.1945C>T (p.Arg649Ter)
|
rs765648513
|
0.00004
|
NM_207122.2(EXT2):c.382C>T (p.Arg128Trp)
|
rs200613371
|
0.00004
|
NM_207122.2(EXT2):c.728C>G (p.Pro243Arg)
|
rs200032672
|
0.00004
|
NM_207122.2(EXT2):c.906G>C (p.Lys302Asn)
|
rs549810739
|
0.00004
|
NM_207122.2(EXT2):c.94A>G (p.Ile32Val)
|
rs769478020
|
0.00004
|
NM_207122.2(EXT2):c.973C>T (p.Arg325Trp)
|
rs145611597
|
0.00004
|
NM_207122.2(EXT2):c.995G>A (p.Ser332Asn)
|
rs148493676
|
0.00004
|
NM_212482.4(FN1):c.1247A>G (p.Asn416Ser)
|
rs181283286
|
0.00004
|
NM_212482.4(FN1):c.2717C>T (p.Thr906Ile)
|
rs370342980
|
0.00004
|
NM_212482.4(FN1):c.3866C>T (p.Pro1289Leu)
|
rs751026014
|
0.00004
|
NM_212482.4(FN1):c.3968A>G (p.Tyr1323Cys)
|
rs200891393
|
0.00004
|
NM_212482.4(FN1):c.4879A>G (p.Ile1627Val)
|
rs370180533
|
0.00004
|
NM_212482.4(FN1):c.6002G>A (p.Arg2001His)
|
rs749462589
|
0.00004
|
NM_212482.4(FN1):c.6784A>G (p.Ile2262Val)
|
rs1330217896
|
0.00004
|
NM_000038.6(APC):c.1241G>A (p.Arg414His)
|
rs730881233
|
0.00003
|
NM_000038.6(APC):c.7808A>G (p.Glu2603Gly)
|
rs587779807
|
0.00003
|
NM_000038.6(APC):c.791A>G (p.Gln264Arg)
|
rs369345931
|
0.00003
|
NM_000038.6(APC):c.854A>G (p.Asp285Gly)
|
rs201093383
|
0.00003
|
NM_000047.3(ARSL):c.280C>T (p.Leu94Phe)
|
rs141210068
|
0.00003
|
NM_000059.4(BRCA2):c.7565C>T (p.Ser2522Phe)
|
rs80358985
|
0.00003
|
NM_000081.4(LYST):c.10965G>C (p.Ala3655=)
|
rs762254542
|
0.00003
|
NM_000081.4(LYST):c.1996A>G (p.Ser666Gly)
|
rs140284566
|
0.00003
|
NM_000081.4(LYST):c.4632C>T (p.Ser1544=)
|
rs373930104
|
0.00003
|
NM_000081.4(LYST):c.6718C>T (p.His2240Tyr)
|
rs186152859
|
0.00003
|
NM_000081.4(LYST):c.85G>A (p.Ala29Thr)
|
rs755173231
|
0.00003
|
NM_000127.3(EXT1):c.1135G>A (p.Val379Ile)
|
rs371233961
|
0.00003
|
NM_000127.3(EXT1):c.1143C>T (p.Gly381=)
|
rs376640197
|
0.00003
|
NM_000127.3(EXT1):c.1239G>T (p.Glu413Asp)
|
rs756701753
|
0.00003
|
NM_000127.3(EXT1):c.1259A>G (p.Glu420Gly)
|
rs147847222
|
0.00003
|
NM_000127.3(EXT1):c.1781C>G (p.Ala594Gly)
|
rs374887549
|
0.00003
|
NM_000138.5(FBN1):c.*1375A>C
|
rs1049315076
|
0.00003
|
NM_000138.5(FBN1):c.*1619T>A
|
rs374297351
|
0.00003
|
NM_000138.5(FBN1):c.*1672G>A
|
rs886051231
|
0.00003
|
NM_000138.5(FBN1):c.*845C>T
|
rs1022238055
|
0.00003
|
NM_000138.5(FBN1):c.-98G>T
|
rs886051254
|
0.00003
|
NM_000138.5(FBN1):c.139G>A (p.Gly47Ser)
|
rs762400500
|
0.00003
|
NM_000138.5(FBN1):c.164+5A>G
|
rs397515760
|
0.00003
|
NM_000138.5(FBN1):c.1747C>T (p.Leu583Phe)
|
rs767293952
|
0.00003
|
NM_000138.5(FBN1):c.2056G>A (p.Ala686Thr)
|
rs377621293
|
0.00003
|
NM_000138.5(FBN1):c.2735A>G (p.Asp912Gly)
|
rs754919275
|
0.00003
|
NM_000138.5(FBN1):c.2930T>G (p.Met977Arg)
|
rs199682686
|
0.00003
|
NM_000138.5(FBN1):c.3223C>T (p.Arg1075Cys)
|
rs186805359
|
0.00003
|
NM_000138.5(FBN1):c.3389A>G (p.His1130Arg)
|
rs747189975
|
0.00003
|
NM_000138.5(FBN1):c.3455C>T (p.Ala1152Val)
|
rs539103389
|
0.00003
|
NM_000138.5(FBN1):c.3523A>G (p.Ile1175Val)
|
rs756754760
|
0.00003
|
NM_000138.5(FBN1):c.4405C>T (p.Arg1469Cys)
|
rs587782946
|
0.00003
|
NM_000138.5(FBN1):c.5311C>T (p.Arg1771Trp)
|
rs767884599
|
0.00003
|
NM_000138.5(FBN1):c.5519G>A (p.Arg1840His)
|
rs369482365
|
0.00003
|
NM_000138.5(FBN1):c.5671+7A>G
|
rs751170564
|
0.00003
|
NM_000138.5(FBN1):c.6044A>T (p.Asp2015Val)
|
rs746719632
|
0.00003
|
NM_000138.5(FBN1):c.6623A>G (p.Asn2208Ser)
|
rs146063839
|
0.00003
|
NM_000138.5(FBN1):c.6819G>A (p.Met2273Ile)
|
rs778027769
|
0.00003
|
NM_000138.5(FBN1):c.6890C>T (p.Thr2297Met)
|
rs773785908
|
0.00003
|
NM_000138.5(FBN1):c.7241G>A (p.Arg2414Gln)
|
rs143863014
|
0.00003
|
NM_000138.5(FBN1):c.7430A>G (p.Gln2477Arg)
|
rs747777955
|
0.00003
|
NM_000138.5(FBN1):c.7451A>G (p.Lys2484Arg)
|
rs374630707
|
0.00003
|
NM_000138.5(FBN1):c.7680G>T (p.Gln2560His)
|
rs780206348
|
0.00003
|
NM_000138.5(FBN1):c.7684G>A (p.Gly2562Ser)
|
rs1397580172
|
0.00003
|
NM_000138.5(FBN1):c.8219A>G (p.Asn2740Ser)
|
rs193922242
|
0.00003
|
NM_000138.5(FBN1):c.8224G>A (p.Glu2742Lys)
|
rs750199580
|
0.00003
|
NM_000138.5(FBN1):c.843A>C (p.Glu281Asp)
|
rs772218768
|
0.00003
|
NM_000142.5(FGFR3):c.2265G>A (p.Thr755=)
|
rs755791719
|
0.00003
|
NM_000222.3(KIT):c.2881G>A (p.Gly961Ser)
|
rs773828910
|
0.00003
|
NM_000243.3(MEFV):c.*1096A>T
|
rs950693142
|
0.00003
|
NM_000243.3(MEFV):c.*797T>C
|
rs552125584
|
0.00003
|
NM_000243.3(MEFV):c.*862A>C
|
rs914879585
|
0.00003
|
NM_000243.3(MEFV):c.1066C>G (p.Gln356Glu)
|
rs377754606
|
0.00003
|
NM_000243.3(MEFV):c.1179C>T (p.Pro393=)
|
rs104895082
|
0.00003
|
NM_000243.3(MEFV):c.1324T>A (p.Ser442Thr)
|
rs779558690
|
0.00003
|
NM_000243.3(MEFV):c.1533G>A (p.Ala511=)
|
rs771061550
|
0.00003
|
NM_000243.3(MEFV):c.1758T>C (p.Asn586=)
|
rs202228332
|
0.00003
|
NM_000243.3(MEFV):c.1779T>A (p.Ala593=)
|
rs377657099
|
0.00003
|
NM_000243.3(MEFV):c.1803T>A (p.Ile601=)
|
rs779572391
|
0.00003
|
NM_000243.3(MEFV):c.1886dup (p.Pro630fs)
|
rs876660997
|
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.2123G>A (p.Arg708His)
|
rs200375017
|
0.00003
|
NM_000243.3(MEFV):c.2141C>T (p.Pro714Leu)
|
rs758628487
|
0.00003
|
NM_000243.3(MEFV):c.2164G>A (p.Val722Met)
|
rs104895201
|
0.00003
|
NM_000243.3(MEFV):c.2263A>G (p.Ile755Val)
|
rs104895194
|
0.00003
|
NM_000243.3(MEFV):c.456G>A (p.Gly152=)
|
rs368333568
|
0.00003
|
NM_000243.3(MEFV):c.475A>G (p.Ser159Gly)
|
rs797001768
|
0.00003
|
NM_000243.3(MEFV):c.489G>T (p.Glu163Asp)
|
rs759997694
|
0.00003
|
NM_000243.3(MEFV):c.539C>T (p.Pro180Leu)
|
rs104895134
|
0.00003
|
NM_000243.3(MEFV):c.574A>G (p.Arg192Gly)
|
rs745839954
|
0.00003
|
NM_000243.3(MEFV):c.64G>A (p.Glu22Lys)
|
rs145289162
|
0.00003
|
NM_000243.3(MEFV):c.833G>A (p.Arg278Gln)
|
rs104895187
|
0.00003
|
NM_000243.3(MEFV):c.99G>A (p.Val33=)
|
rs767848974
|
0.00003
|
NM_000246.4(CIITA):c.2096C>T (p.Pro699Leu)
|
rs369787912
|
0.00003
|
NM_000246.4(CIITA):c.3217T>A (p.Ser1073Thr)
|
rs761139192
|
0.00003
|
NM_000302.4(PLOD1):c.*148C>G
|
rs886045211
|
0.00003
|
NM_000302.4(PLOD1):c.-39G>T
|
rs769995450
|
0.00003
|
NM_000302.4(PLOD1):c.1098-3C>T
|
rs541901674
|
0.00003
|
NM_000302.4(PLOD1):c.1255T>C (p.Trp419Arg)
|
rs373446893
|
0.00003
|
NM_000302.4(PLOD1):c.1288C>T (p.Arg430Cys)
|
rs370790682
|
0.00003
|
NM_000302.4(PLOD1):c.136C>T (p.Arg46Cys)
|
rs138698098
|
0.00003
|
NM_000302.4(PLOD1):c.1678A>G (p.Ile560Val)
|
rs369696269
|
0.00003
|
NM_000302.4(PLOD1):c.1772G>A (p.Gly591Asp)
|
rs748646169
|
0.00003
|
NM_000302.4(PLOD1):c.1790C>T (p.Pro597Leu)
|
rs775321665
|
0.00003
|
NM_000302.4(PLOD1):c.1818C>A (p.Ile606=)
|
rs372579008
|
0.00003
|
NM_000302.4(PLOD1):c.184G>A (p.Glu62Lys)
|
rs146092290
|
0.00003
|
NM_000302.4(PLOD1):c.2057A>G (p.Asn686Ser)
|
rs747393648
|
0.00003
|
NM_000302.4(PLOD1):c.2141C>T (p.Thr714Ile)
|
rs370498584
|
0.00003
|
NM_000302.4(PLOD1):c.2152C>T (p.Arg718Cys)
|
rs754650948
|
0.00003
|
NM_000302.4(PLOD1):c.303-10C>T
|
rs750987724
|
0.00003
|
NM_000302.4(PLOD1):c.307G>A (p.Asp103Asn)
|
rs774590964
|
0.00003
|
NM_000302.4(PLOD1):c.508G>A (p.Glu170Lys)
|
rs780519821
|
0.00003
|
NM_000302.4(PLOD1):c.712G>T (p.Val238Phe)
|
rs777914756
|
0.00003
|
NM_000302.4(PLOD1):c.813C>T (p.Asp271=)
|
rs373471550
|
0.00003
|
NM_000302.4(PLOD1):c.842G>A (p.Gly281Glu)
|
rs1056398577
|
0.00003
|
NM_000302.4(PLOD1):c.893C>T (p.Thr298Met)
|
rs879902079
|
0.00003
|
NM_000368.5(TSC1):c.1231C>A (p.Leu411Ile)
|
rs397514840
|
0.00003
|
NM_000368.5(TSC1):c.3439A>G (p.Ser1147Gly)
|
rs768624733
|
0.00003
|
NM_000388.4(CASR):c.*103A>C
|
rs199899073
|
0.00003
|
NM_000388.4(CASR):c.1144G>A (p.Asp382Asn)
|
rs199980578
|
0.00003
|
NM_000388.4(CASR):c.1463A>G (p.Asn488Ser)
|
rs146739893
|
0.00003
|
NM_000388.4(CASR):c.2693G>A (p.Arg898Gln)
|
rs121909269
|
0.00003
|
NM_000388.4(CASR):c.3118C>G (p.Gln1040Glu)
|
rs1007139212
|
0.00003
|
NM_000393.5(COL5A2):c.463C>T (p.Arg155Cys)
|
rs767252151
|
0.00003
|
NM_000431.4(MVK):c.*486C>T
|
rs1359708981
|
0.00003
|
NM_000431.4(MVK):c.-33G>A
|
rs886048930
|
0.00003
|
NM_000431.4(MVK):c.-55G>C
|
rs886048929
|
0.00003
|
NM_000431.4(MVK):c.258G>A (p.Glu86=)
|
rs139299227
|
0.00003
|
NM_000431.4(MVK):c.362G>A (p.Arg121Gln)
|
rs371511147
|
0.00003
|
NM_000431.4(MVK):c.802A>G (p.Ile268Val)
|
rs759997079
|
0.00003
|
NM_000431.4(MVK):c.857C>T (p.Pro286Leu)
|
rs104895379
|
0.00003
|
NM_000431.4(MVK):c.974G>A (p.Arg325His)
|
rs374686559
|
0.00003
|
NM_000431.4(MVK):c.999C>T (p.Gly333=)
|
rs147904100
|
0.00003
|
NM_000435.3(NOTCH3):c.4914A>G (p.Glu1638=)
|
rs149222385
|
0.00003
|
NM_000628.5(IL10RB):c.*546G>A
|
rs886057006
|
0.00003
|
NM_000628.5(IL10RB):c.795C>A (p.His265Gln)
|
rs373204116
|
0.00003
|
NM_000628.5(IL10RB):c.911G>A (p.Ser304Asn)
|
rs762692366
|
0.00003
|
NM_001032283.3(TMPO):c.331G>C (p.Asp111His)
|
rs201838047
|
0.00003
|
NM_001032283.3(TMPO):c.529A>G (p.Ser177Gly)
|
rs765922156
|
0.00003
|
NM_001032283.3(TMPO):c.565+1917A>G
|
rs727505217
|
0.00003
|
NM_001032283.3(TMPO):c.565+2104A>G
|
rs766567371
|
0.00003
|
NM_001032283.3(TMPO):c.565+2247C>T
|
rs369379490
|
0.00003
|
NM_001032283.3(TMPO):c.565+2253C>T
|
rs201929673
|
0.00003
|
NM_001032283.3(TMPO):c.565+2268A>T
|
rs759832690
|
0.00003
|
NM_001032283.3(TMPO):c.565+2301A>G
|
rs765153747
|
0.00003
|
NM_001032283.3(TMPO):c.565+2467T>A
|
rs767216575
|
0.00003
|
NM_001042492.3(NF1):c.100G>A (p.Val34Ile)
|
rs772995929
|
0.00003
|
NM_001042492.3(NF1):c.169G>A (p.Gly57Ser)
|
rs779727341
|
0.00003
|
NM_001042492.3(NF1):c.2570A>G (p.Asn857Ser)
|
rs1060500299
|
0.00003
|
NM_001042492.3(NF1):c.2585C>G (p.Thr862Ser)
|
rs200302954
|
0.00003
|
NM_001042492.3(NF1):c.2747A>G (p.Asn916Ser)
|
rs765043916
|
0.00003
|
NM_001042492.3(NF1):c.3604G>T (p.Ala1202Ser)
|
rs146641724
|
0.00003
|
NM_001042492.3(NF1):c.7003A>G (p.Thr2335Ala)
|
rs370209920
|
0.00003
|
NM_001065.4(TNFRSF1A):c.1038C>G (p.His346Gln)
|
rs201994938
|
0.00003
|
NM_001065.4(TNFRSF1A):c.1225C>T (p.Arg409Trp)
|
rs1163833048
|
0.00003
|
NM_001065.4(TNFRSF1A):c.339G>A (p.Glu113=)
|
rs587780965
|
0.00003
|
NM_001065.4(TNFRSF1A):c.492C>T (p.Thr164=)
|
rs373422284
|
0.00003
|
NM_001065.4(TNFRSF1A):c.532G>A (p.Glu178Lys)
|
rs538872981
|
0.00003
|
NM_001083116.3(PRF1):c.503G>A (p.Ser168Asn)
|
rs779399414
|
0.00003
|
NM_001111.5(ADAR):c.*1406A>C
|
rs886045325
|
0.00003
|
NM_001111.5(ADAR):c.*468G>A
|
rs886045332
|
0.00003
|
NM_001111.5(ADAR):c.1316A>G (p.Asn439Ser)
|
rs940393676
|
0.00003
|
NM_001111.5(ADAR):c.1543G>T (p.Ala515Ser)
|
rs200830156
|
0.00003
|
NM_001111.5(ADAR):c.164C>T (p.Pro55Leu)
|
rs187076847
|
0.00003
|
NM_001111.5(ADAR):c.2207G>A (p.Arg736His)
|
rs147800502
|
0.00003
|
NM_001111.5(ADAR):c.2270+3G>T
|
rs778624308
|
0.00003
|
NM_001111.5(ADAR):c.2437G>A (p.Ala813Thr)
|
rs754179945
|
0.00003
|
NM_001111.5(ADAR):c.2753G>C (p.Gly918Ala)
|
rs142456688
|
0.00003
|
NM_001111.5(ADAR):c.3289C>A (p.His1097Asn)
|
rs200537032
|
0.00003
|
NM_001111.5(ADAR):c.592G>A (p.Ala198Thr)
|
rs764385471
|
0.00003
|
NM_001111.5(ADAR):c.625G>A (p.Gly209Arg)
|
rs767095635
|
0.00003
|
NM_001111.5(ADAR):c.643G>A (p.Gly215Ser)
|
rs751532191
|
0.00003
|
NM_001111.5(ADAR):c.746C>T (p.Ser249Leu)
|
rs750380232
|
0.00003
|
NM_001122681.2(SH3BP2):c.*1947C>T
|
rs770509235
|
0.00003
|
NM_001122681.2(SH3BP2):c.*5583G>A
|
rs886059383
|
0.00003
|
NM_001122681.2(SH3BP2):c.*6037T>C
|
rs886059385
|
0.00003
|
NM_001122681.2(SH3BP2):c.1135C>T (p.Pro379Ser)
|
rs759054470
|
0.00003
|
NM_001122681.2(SH3BP2):c.1321G>A (p.Gly441Arg)
|
rs146202519
|
0.00003
|
NM_001122681.2(SH3BP2):c.1535G>A (p.Arg512His)
|
rs373119331
|
0.00003
|
NM_001122681.2(SH3BP2):c.167G>A (p.Arg56His)
|
rs779608979
|
0.00003
|
NM_001122681.2(SH3BP2):c.410A>G (p.Asp137Gly)
|
rs777468144
|
0.00003
|
NM_001122681.2(SH3BP2):c.497C>T (p.Pro166Leu)
|
rs567769591
|
0.00003
|
NM_001122681.2(SH3BP2):c.517+5G>A
|
rs367984149
|
0.00003
|
NM_001122681.2(SH3BP2):c.713C>T (p.Pro238Leu)
|
rs369270340
|
0.00003
|
NM_001122681.2(SH3BP2):c.907C>G (p.Pro303Ala)
|
rs146469368
|
0.00003
|
NM_001122681.2(SH3BP2):c.914C>T (p.Pro305Leu)
|
rs555463039
|
0.00003
|
NM_001122681.2(SH3BP2):c.967A>G (p.Met323Val)
|
rs1482037731
|
0.00003
|
NM_001127511.3(APC):c.-32C>T
|
rs1015952631
|
0.00003
|
NM_001127511.3(APC):c.-88T>G
|
rs531931776
|
0.00003
|
NM_001127511.3(APC):c.1A>G (p.Met1Val)
|
rs189807660
|
0.00003
|
NM_001127671.2(LIFR):c.2010C>T (p.Cys670=)
|
rs755322616
|
0.00003
|
NM_001127671.2(LIFR):c.3078G>A (p.Ala1026=)
|
rs760083976
|
0.00003
|
NM_001127671.2(LIFR):c.3086G>A (p.Arg1029Lys)
|
rs1012911330
|
0.00003
|
NM_001171.6(ABCC6):c.113G>C (p.Trp38Ser)
|
rs72653752
|
0.00003
|
NM_001171.6(ABCC6):c.1264G>A (p.Glu422Lys)
|
rs770532500
|
0.00003
|
NM_001171.6(ABCC6):c.1318T>G (p.Cys440Gly)
|
rs72653766
|
0.00003
|
NM_001171.6(ABCC6):c.1577G>A (p.Arg526Gln)
|
rs761847996
|
0.00003
|
NM_001171.6(ABCC6):c.1652T>C (p.Phe551Ser)
|
rs72653774
|
0.00003
|
NM_001171.6(ABCC6):c.2858T>A (p.Leu953His)
|
rs72657700
|
0.00003
|
NM_001171.6(ABCC6):c.3106_3108del (p.Phe1036del)
|
rs72664230
|
0.00003
|
NM_001171.6(ABCC6):c.3145T>G (p.Ser1049Ala)
|
rs72657693
|
0.00003
|
NM_001171.6(ABCC6):c.3634-3C>A
|
rs72664212
|
0.00003
|
NM_001171.6(ABCC6):c.3997G>A (p.Val1333Met)
|
rs142505247
|
0.00003
|
NM_001171.6(ABCC6):c.469G>A (p.Gly157Arg)
|
rs1209940471
|
0.00003
|
NM_001199138.2(NLRC4):c.136G>C (p.Val46Leu)
|
rs530065673
|
0.00003
|
NM_001199138.2(NLRC4):c.1550G>C (p.Cys517Ser)
|
rs779390608
|
0.00003
|
NM_001199138.2(NLRC4):c.1570G>A (p.Ala524Thr)
|
rs199475956
|
0.00003
|
NM_001199138.2(NLRC4):c.1972G>C (p.Glu658Gln)
|
rs751001500
|
0.00003
|
NM_001199138.2(NLRC4):c.2166T>G (p.Ser722Arg)
|
rs776862990
|
0.00003
|
NM_001199138.2(NLRC4):c.2426A>G (p.Asp809Gly)
|
rs937306605
|
0.00003
|
NM_001199138.2(NLRC4):c.2674G>A (p.Val892Met)
|
rs753697675
|
0.00003
|
NM_001199138.2(NLRC4):c.2728G>A (p.Val910Ile)
|
rs144418059
|
0.00003
|
NM_001199138.2(NLRC4):c.2882T>C (p.Phe961Ser)
|
rs1316364094
|
0.00003
|
NM_001199138.2(NLRC4):c.611G>A (p.Arg204His)
|
rs763335197
|
0.00003
|
NM_001199138.2(NLRC4):c.929G>A (p.Arg310Gln)
|
rs368415170
|
0.00003
|
NM_001199397.3(NEK1):c.426A>G (p.Val142=)
|
rs200769726
|
0.00003
|
NM_001243133.2(NLRP3):c.-339C>T
|
rs201966092
|
0.00003
|
NM_001243133.2(NLRP3):c.1584C>T (p.Ala528=)
|
rs201644343
|
0.00003
|
NM_001243133.2(NLRP3):c.1669A>G (p.Thr557Ala)
|
rs180177461
|
0.00003
|
NM_001243133.2(NLRP3):c.1814A>T (p.Glu605Val)
|
rs745564372
|
0.00003
|
NM_001243133.2(NLRP3):c.299C>T (p.Ser100Leu)
|
rs776897356
|
0.00003
|
NM_001243133.2(NLRP3):c.3037A>G (p.Lys1013Glu)
|
rs771315000
|
0.00003
|
NM_001243133.2(NLRP3):c.403C>T (p.Arg135Cys)
|
rs201525433
|
0.00003
|
NM_001243133.2(NLRP3):c.502C>T (p.Arg168Ter)
|
rs746159202
|
0.00003
|
NM_001282225.2(ADA2):c.1334T>C (p.Met445Thr)
|
rs776544525
|
0.00003
|
NM_001282225.2(ADA2):c.1335G>A (p.Met445Ile)
|
rs1265300292
|
0.00003
|
NM_001282225.2(ADA2):c.133C>T (p.Arg45Trp)
|
rs777683953
|
0.00003
|
NM_001282225.2(ADA2):c.1531A>C (p.Lys511Gln)
|
rs535337577
|
0.00003
|
NM_001282225.2(ADA2):c.32C>T (p.Ala11Val)
|
rs147655483
|
0.00003
|
NM_001282225.2(ADA2):c.79G>T (p.Ala27Ser)
|
rs766768505
|
0.00003
|
NM_001360016.2(G6PD):c.120+3646C>T
|
rs782367664
|
0.00003
|
NM_001366385.1(CARD14):c.1098C>T (p.Ser366=)
|
rs749480979
|
0.00003
|
NM_001366385.1(CARD14):c.1460G>A (p.Arg487Gln)
|
rs531888447
|
0.00003
|
NM_001366385.1(CARD14):c.1468G>A (p.Glu490Lys)
|
rs372805579
|
0.00003
|
NM_001366385.1(CARD14):c.2113G>A (p.Val705Ile)
|
rs148788573
|
0.00003
|
NM_001367624.2(ZNF469):c.10420C>T (p.Arg3474Trp)
|
rs1394199246
|
0.00003
|
NM_001367624.2(ZNF469):c.11809G>A (p.Gly3937Arg)
|
rs886052421
|
0.00003
|
NM_001367624.2(ZNF469):c.1875C>A (p.Leu625=)
|
rs886052392
|
0.00003
|
NM_001367624.2(ZNF469):c.1882C>A (p.Pro628Thr)
|
rs886052393
|
0.00003
|
NM_001367624.2(ZNF469):c.4224G>A (p.Pro1408=)
|
rs940044560
|
0.00003
|
NM_001367624.2(ZNF469):c.4778C>T (p.Ser1593Leu)
|
rs768864900
|
0.00003
|
NM_001367624.2(ZNF469):c.8430G>A (p.Ala2810=)
|
rs574024256
|
0.00003
|
NM_001367624.2(ZNF469):c.8599G>A (p.Gly2867Ser)
|
rs745468033
|
0.00003
|
NM_001367624.2(ZNF469):c.9784G>T (p.Ala3262Ser)
|
rs886052418
|
0.00003
|
NM_001370466.1(NOD2):c.*186C>G
|
rs886052045
|
0.00003
|
NM_001370466.1(NOD2):c.134A>G (p.Glu45Gly)
|
rs138881230
|
0.00003
|
NM_001370466.1(NOD2):c.1378G>A (p.Val460Ile)
|
rs908626604
|
0.00003
|
NM_001370466.1(NOD2):c.1865T>C (p.Ile622Thr)
|
rs367637762
|
0.00003
|
NM_001370466.1(NOD2):c.1994A>G (p.Glu665Gly)
|
rs766687492
|
0.00003
|
NM_001370466.1(NOD2):c.2027G>A (p.Arg676His)
|
rs750096604
|
0.00003
|
NM_001370466.1(NOD2):c.230T>C (p.Ile77Thr)
|
rs912789864
|
0.00003
|
NM_001370466.1(NOD2):c.2393A>G (p.Asn798Ser)
|
rs747787438
|
0.00003
|
NM_001370466.1(NOD2):c.2426T>C (p.Ile809Thr)
|
rs763192145
|
0.00003
|
NM_001370466.1(NOD2):c.2465+1G>A
|
rs373550987
|
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.2572G>C (p.Ala858Pro)
|
rs759456303
|
0.00003
|
NM_001370466.1(NOD2):c.2974C>T (p.Arg992Ter)
|
rs104895491
|
0.00003
|
NM_001370466.1(NOD2):c.313C>T (p.Arg105Ter)
|
rs757487598
|
0.00003
|
NM_001370466.1(NOD2):c.616C>T (p.Gln206Ter)
|
rs781333877
|
0.00003
|
NM_001370466.1(NOD2):c.617A>C (p.Gln206Pro)
|
rs369098290
|
0.00003
|
NM_001370466.1(NOD2):c.840G>A (p.Thr280=)
|
rs376601025
|
0.00003
|
NM_001370466.1(NOD2):c.845T>C (p.Leu282Pro)
|
rs767225117
|
0.00003
|
NM_001370466.1(NOD2):c.907C>T (p.Pro303Ser)
|
rs773132030
|
0.00003
|
NM_001370466.1(NOD2):c.947T>C (p.Leu316Pro)
|
rs369732140
|
0.00003
|
NM_001375808.2(LPIN2):c.*252G>A
|
rs886053762
|
0.00003
|
NM_001375808.2(LPIN2):c.*275C>G
|
rs886053761
|
0.00003
|
NM_001375808.2(LPIN2):c.*2999C>A
|
rs138807947
|
0.00003
|
NM_001375808.2(LPIN2):c.*448C>T
|
rs886053759
|
0.00003
|
NM_001375808.2(LPIN2):c.*934G>C
|
rs1032890815
|
0.00003
|
NM_001375808.2(LPIN2):c.1134G>A (p.Pro378=)
|
rs543890845
|
0.00003
|
NM_001375808.2(LPIN2):c.1151C>T (p.Ser384Leu)
|
rs765616457
|
0.00003
|
NM_001375808.2(LPIN2):c.1274C>T (p.Ser425Leu)
|
rs772737665
|
0.00003
|
NM_001375808.2(LPIN2):c.2278C>T (p.Arg760Trp)
|
rs371146662
|
0.00003
|
NM_001375808.2(LPIN2):c.2343G>T (p.Lys781Asn)
|
rs765195065
|
0.00003
|
NM_001375808.2(LPIN2):c.2655C>A (p.Asp885Glu)
|
rs140002239
|
0.00003
|
NM_001375808.2(LPIN2):c.377G>A (p.Gly126Asp)
|
rs778376881
|
0.00003
|
NM_001375808.2(LPIN2):c.553G>A (p.Val185Met)
|
rs148620026
|
0.00003
|
NM_001375808.2(LPIN2):c.584C>T (p.Ala195Val)
|
rs1226336598
|
0.00003
|
NM_001457.4(FLNB):c.1953C>T (p.Tyr651=)
|
rs754981255
|
0.00003
|
NM_001558.4(IL10RA):c.*421A>C
|
rs1200867723
|
0.00003
|
NM_001558.4(IL10RA):c.-54T>C
|
rs886047705
|
0.00003
|
NM_001558.4(IL10RA):c.1040C>T (p.Thr347Met)
|
rs747574092
|
0.00003
|
NM_001558.4(IL10RA):c.1281C>T (p.Pro427=)
|
rs767275130
|
0.00003
|
NM_001558.4(IL10RA):c.16G>C (p.Val6Leu)
|
rs989694807
|
0.00003
|
NM_001558.4(IL10RA):c.514C>T (p.Arg172Cys)
|
rs773555674
|
0.00003
|
NM_001611.5(ACP5):c.136C>T (p.Arg46Trp)
|
rs780116316
|
0.00003
|
NM_001611.5(ACP5):c.238G>A (p.Asp80Asn)
|
rs528748445
|
0.00003
|
NM_001611.5(ACP5):c.277G>A (p.Val93Ile)
|
rs568576678
|
0.00003
|
NM_001611.5(ACP5):c.527G>A (p.Arg176Gln)
|
rs774878498
|
0.00003
|
NM_001611.5(ACP5):c.652C>T (p.His218Tyr)
|
rs148656335
|
0.00003
|
NM_001611.5(ACP5):c.79C>T (p.Arg27Cys)
|
rs369579418
|
0.00003
|
NM_001611.5(ACP5):c.829G>A (p.Gly277Ser)
|
rs377528244
|
0.00003
|
NM_001754.5(RUNX1):c.1112T>C (p.Met371Thr)
|
rs922736848
|
0.00003
|
NM_001754.5(RUNX1):c.787C>T (p.Pro263Ser)
|
rs370315332
|
0.00003
|
NM_001754.5(RUNX1):c.899C>T (p.Thr300Met)
|
rs758682659
|
0.00003
|
NM_001844.5(COL2A1):c.1498G>A (p.Val500Ile)
|
rs768110640
|
0.00003
|
NM_001844.5(COL2A1):c.3385C>T (p.Leu1129=)
|
rs745633496
|
0.00003
|
NM_001844.5(COL2A1):c.3505G>A (p.Val1169Ile)
|
rs760390497
|
0.00003
|
NM_001844.5(COL2A1):c.3663C>T (p.Ser1221=)
|
rs2276459
|
0.00003
|
NM_001844.5(COL2A1):c.4117G>A (p.Val1373Ile)
|
rs778382364
|
0.00003
|
NM_001844.5(COL2A1):c.4432G>A (p.Gly1478Ser)
|
rs1400762548
|
0.00003
|
NM_001844.5(COL2A1):c.580G>A (p.Ala194Thr)
|
rs371445823
|
0.00003
|
NM_001844.5(COL2A1):c.708+14C>T
|
rs769173275
|
0.00003
|
NM_001844.5(COL2A1):c.798G>A (p.Arg266=)
|
rs376753701
|
0.00003
|
NM_001852.4(COL9A2):c.*386C>T
|
rs932745561
|
0.00003
|
NM_001852.4(COL9A2):c.1599G>T (p.Leu533=)
|
rs142974512
|
0.00003
|
NM_001852.4(COL9A2):c.741C>A (p.Gly247=)
|
rs747133313
|
0.00003
|
NM_001854.4(COL11A1):c.698A>G (p.Tyr233Cys)
|
rs141304474
|
0.00003
|
NM_001972.4(ELANE):c.275G>A (p.Arg92Gln)
|
rs755088297
|
0.00003
|
NM_001999.4(FBN2):c.1423G>A (p.Gly475Ser)
|
rs200440156
|
0.00003
|
NM_001999.4(FBN2):c.2214A>T (p.Gly738=)
|
rs201548788
|
0.00003
|
NM_001999.4(FBN2):c.3061C>T (p.Arg1021Cys)
|
rs541842635
|
0.00003
|
NM_001999.4(FBN2):c.3670C>T (p.Gln1224Ter)
|
rs863223569
|
0.00003
|
NM_001999.4(FBN2):c.3980A>G (p.Asn1327Ser)
|
rs762567430
|
0.00003
|
NM_001999.4(FBN2):c.4495A>C (p.Asn1499His)
|
rs771260299
|
0.00003
|
NM_001999.4(FBN2):c.4914C>T (p.Gly1638=)
|
rs1482008222
|
0.00003
|
NM_001999.4(FBN2):c.7338T>C (p.Asp2446=)
|
rs751824761
|
0.00003
|
NM_001999.4(FBN2):c.8596G>A (p.Gly2866Ser)
|
rs752201545
|
0.00003
|
NM_002070.4(GNAI2):c.879G>A (p.Gly293=)
|
rs143863348
|
0.00003
|
NM_002451.4(MTAP):c.*2383C>T
|
rs886063791
|
0.00003
|
NM_002451.4(MTAP):c.*3160T>C
|
rs1228548595
|
0.00003
|
NM_002451.4(MTAP):c.*3501T>C
|
rs949232383
|
0.00003
|
NM_002451.4(MTAP):c.300G>A (p.Glu100=)
|
rs762121645
|
0.00003
|
NM_002474.3(MYH11):c.2924C>T (p.Thr975Met)
|
rs763795192
|
0.00003
|
NM_002661.5(PLCG2):c.1852C>T (p.Arg618Cys)
|
rs759496244
|
0.00003
|
NM_002661.5(PLCG2):c.2149G>A (p.Val717Ile)
|
rs762414923
|
0.00003
|
NM_002661.5(PLCG2):c.2194C>T (p.Arg732Cys)
|
rs369760877
|
0.00003
|
NM_002661.5(PLCG2):c.2235+3A>G
|
rs544435013
|
0.00003
|
NM_002661.5(PLCG2):c.2245A>G (p.Ile749Val)
|
rs761876435
|
0.00003
|
NM_002661.5(PLCG2):c.2522A>G (p.Glu841Gly)
|
rs756855626
|
0.00003
|
NM_002661.5(PLCG2):c.2588C>A (p.Ala863Asp)
|
rs766006428
|
0.00003
|
NM_002661.5(PLCG2):c.3524T>C (p.Ile1175Thr)
|
rs1265110994
|
0.00003
|
NM_002661.5(PLCG2):c.3650A>G (p.Tyr1217Cys)
|
rs373013824
|
0.00003
|
NM_002661.5(PLCG2):c.542A>G (p.Lys181Arg)
|
rs748418080
|
0.00003
|
NM_002661.5(PLCG2):c.61G>T (p.Ala21Ser)
|
rs1248111391
|
0.00003
|
NM_002834.5(PTPN11):c.1327C>T (p.His443Tyr)
|
rs779236638
|
0.00003
|
NM_002904.6(NELFE):c.-86C>T
|
rs886061300
|
0.00003
|
NM_003036.4(SKI):c.1000C>T (p.Pro334Ser)
|
rs775433131
|
0.00003
|
NM_003036.4(SKI):c.142A>C (p.Lys48Gln)
|
rs946543006
|
0.00003
|
NM_003036.4(SKI):c.1637G>A (p.Arg546Gln)
|
rs748681103
|
0.00003
|
NM_003036.4(SKI):c.1767+11C>T
|
rs202132957
|
0.00003
|
NM_003036.4(SKI):c.1817C>T (p.Thr606Met)
|
rs753862105
|
0.00003
|
NM_003036.4(SKI):c.1877A>T (p.Lys626Met)
|
rs774106502
|
0.00003
|
NM_003036.4(SKI):c.593C>T (p.Pro198Leu)
|
rs1371410513
|
0.00003
|
NM_003036.4(SKI):c.878G>A (p.Gly293Asp)
|
rs756571135
|
0.00003
|
NM_003036.4(SKI):c.915C>G (p.Asp305Glu)
|
rs900879745
|
0.00003
|
NM_003036.4(SKI):c.964C>T (p.Pro322Ser)
|
rs779317743
|
0.00003
|
NM_003183.6(ADAM17):c.1034T>C (p.Met345Thr)
|
rs777632615
|
0.00003
|
NM_003183.6(ADAM17):c.1520C>T (p.Thr507Met)
|
rs780454096
|
0.00003
|
NM_003183.6(ADAM17):c.2097T>A (p.Asp699Glu)
|
rs765883520
|
0.00003
|
NM_003183.6(ADAM17):c.2224G>A (p.Ala742Thr)
|
rs761836949
|
0.00003
|
NM_003183.6(ADAM17):c.2380G>A (p.Asp794Asn)
|
rs749860291
|
0.00003
|
NM_003183.6(ADAM17):c.668A>G (p.Asn223Ser)
|
rs758650568
|
0.00003
|
NM_003238.6(TGFB2):c.-569T>C
|
rs886045972
|
0.00003
|
NM_003238.6(TGFB2):c.-679G>A
|
rs886045964
|
0.00003
|
NM_003238.6(TGFB2):c.-682C>G
|
rs886045963
|
0.00003
|
NM_003238.6(TGFB2):c.-794T>C
|
rs886045960
|
0.00003
|
NM_003238.6(TGFB2):c.400G>A (p.Val134Ile)
|
rs757551766
|
0.00003
|
NM_003238.6(TGFB2):c.428A>G (p.Asn143Ser)
|
rs141548795
|
0.00003
|
NM_003239.5(TGFB3):c.1135G>A (p.Val379Met)
|
rs757031677
|
0.00003
|
NM_003239.5(TGFB3):c.797G>A (p.Arg266His)
|
rs142069844
|
0.00003
|
NM_003239.5(TGFB3):c.859C>T (p.Arg287Trp)
|
rs757774610
|
0.00003
|
NM_003242.6(TGFBR2):c.*2425C>A
|
rs886058329
|
0.00003
|
NM_003242.6(TGFBR2):c.*328A>C
|
rs886058309
|
0.00003
|
NM_003242.6(TGFBR2):c.*989G>A
|
rs886058316
|
0.00003
|
NM_003242.6(TGFBR2):c.1470C>T (p.Asn490=)
|
rs141113059
|
0.00003
|
NM_003242.6(TGFBR2):c.452A>T (p.Glu151Val)
|
rs757051948
|
0.00003
|
NM_003242.6(TGFBR2):c.569G>A (p.Arg190His)
|
rs780542125
|
0.00003
|
NM_003242.6(TGFBR2):c.64A>T (p.Ser22Cys)
|
rs767407566
|
0.00003
|
NM_003242.6(TGFBR2):c.671G>A (p.Arg224His)
|
rs112465572
|
0.00003
|
NM_003242.6(TGFBR2):c.690G>A (p.Thr230=)
|
rs201560560
|
0.00003
|
NM_003242.6(TGFBR2):c.81C>T (p.His27=)
|
rs1057520957
|
0.00003
|
NM_003977.4(AIP):c.406G>T (p.Ala136Ser)
|
rs775549178
|
0.00003
|
NM_003977.4(AIP):c.563G>A (p.Arg188Gln)
|
rs866556486
|
0.00003
|
NM_003978.5(PSTPIP1):c.296G>T (p.Arg99Leu)
|
rs371065077
|
0.00003
|
NM_003978.5(PSTPIP1):c.352A>C (p.Lys118Gln)
|
rs1000642747
|
0.00003
|
NM_003978.5(PSTPIP1):c.537G>A (p.Gln179=)
|
rs927470089
|
0.00003
|
NM_003978.5(PSTPIP1):c.566G>A (p.Arg189Gln)
|
rs375294517
|
0.00003
|
NM_003978.5(PSTPIP1):c.642+3G>A
|
rs765423624
|
0.00003
|
NM_003978.5(PSTPIP1):c.655C>T (p.Gln219Ter)
|
rs751668240
|
0.00003
|
NM_003978.5(PSTPIP1):c.82C>T (p.Arg28Trp)
|
rs767330325
|
0.00003
|
NM_003978.5(PSTPIP1):c.924A>G (p.Ile308Met)
|
rs748788047
|
0.00003
|
NM_004239.4(TRIP11):c.975A>G (p.Ala325=)
|
rs143126491
|
0.00003
|
NM_004273.5(CHST3):c.*1698C>G
|
rs377338550
|
0.00003
|
NM_004273.5(CHST3):c.*3245G>A
|
rs545967470
|
0.00003
|
NM_004273.5(CHST3):c.*410C>T
|
rs886047160
|
0.00003
|
NM_004273.5(CHST3):c.*4821G>A
|
rs886047184
|
0.00003
|
NM_004273.5(CHST3):c.*812G>A
|
rs886047162
|
0.00003
|
NM_004273.5(CHST3):c.244G>A (p.Glu82Lys)
|
rs368468468
|
0.00003
|
NM_004304.5(ALK):c.2194G>A (p.Asp732Asn)
|
rs768366852
|
0.00003
|
NM_004364.5(CEBPA):c.1009A>T (p.Thr337Ser)
|
rs587778192
|
0.00003
|
NM_004364.5(CEBPA):c.1055A>G (p.Lys352Arg)
|
rs775099224
|
0.00003
|
NM_004364.5(CEBPA):c.1060A>G (p.Met354Val)
|
rs1060502122
|
0.00003
|
NM_004364.5(CEBPA):c.256C>T (p.Arg86Trp)
|
rs1555742243
|
0.00003
|
NM_004364.5(CEBPA):c.365G>A (p.Gly122Glu)
|
rs1311096326
|
0.00003
|
NM_004364.5(CEBPA):c.385C>T (p.Pro129Ser)
|
rs1328994773
|
0.00003
|
NM_004364.5(CEBPA):c.421G>T (p.Gly141Cys)
|
rs1408671093
|
0.00003
|
NM_004364.5(CEBPA):c.527C>T (p.Ala176Val)
|
rs957167825
|
0.00003
|
NM_004364.5(CEBPA):c.568T>C (p.Ser190Pro)
|
rs867463920
|
0.00003
|
NM_004371.4(COPA):c.1943G>A (p.Arg648His)
|
rs746774599
|
0.00003
|
NM_004371.4(COPA):c.2393C>T (p.Pro798Leu)
|
rs368086805
|
0.00003
|
NM_004612.4(TGFBR1):c.*1959G>T
|
rs886063237
|
0.00003
|
NM_004612.4(TGFBR1):c.*3059A>G
|
rs200138586
|
0.00003
|
NM_004612.4(TGFBR1):c.*3150C>T
|
rs200525939
|
0.00003
|
NM_004612.4(TGFBR1):c.*4793A>G
|
rs77001090
|
0.00003
|
NM_004612.4(TGFBR1):c.134A>G (p.Asn45Ser)
|
rs387906696
|
0.00003
|
NM_004612.4(TGFBR1):c.926C>T (p.Thr309Met)
|
rs200518416
|
0.00003
|
NM_004944.4(DNASE1L3):c.601G>A (p.Ala201Thr)
|
rs777430061
|
0.00003
|
NM_004944.4(DNASE1L3):c.709G>C (p.Val237Leu)
|
rs747698984
|
0.00003
|
NM_005188.4(CBL):c.1484C>T (p.Pro495Leu)
|
rs373989524
|
0.00003
|
NM_005373.3(MPL):c.212G>A (p.Arg71Gln)
|
rs368753117
|
0.00003
|
NM_005373.3(MPL):c.22A>G (p.Met8Val)
|
rs572208458
|
0.00003
|
NM_005373.3(MPL):c.712G>T (p.Gly238Cys)
|
rs144210383
|
0.00003
|
NM_005373.3(MPL):c.932C>T (p.Ser311Phe)
|
rs776753502
|
0.00003
|
NM_005529.7(HSPG2):c.3445A>T (p.Ser1149Cys)
|
rs751653012
|
0.00003
|
NM_005529.7(HSPG2):c.7030C>T (p.Arg2344Cys)
|
rs752260236
|
0.00003
|
NM_005529.7(HSPG2):c.8152G>A (p.Gly2718Ser)
|
rs778350928
|
0.00003
|
NM_005546.4(ITK):c.287G>C (p.Arg96Pro)
|
rs751865122
|
0.00003
|
NM_005902.4(SMAD3):c.*2573G>A
|
rs886051418
|
0.00003
|
NM_005902.4(SMAD3):c.*552G>C
|
rs769408016
|
0.00003
|
NM_005902.4(SMAD3):c.1070A>G (p.Asn357Ser)
|
rs140880290
|
0.00003
|
NM_005902.4(SMAD3):c.1120A>G (p.Met374Val)
|
rs370394986
|
0.00003
|
NM_005902.4(SMAD3):c.1186A>G (p.Ile396Val)
|
rs1317532064
|
0.00003
|
NM_005902.4(SMAD3):c.1258C>T (p.Arg420Cys)
|
rs1206533102
|
0.00003
|
NM_005902.4(SMAD3):c.394A>G (p.Thr132Ala)
|
rs371876622
|
0.00003
|
NM_005902.4(SMAD3):c.632C>T (p.Pro211Leu)
|
rs772510704
|
0.00003
|
NM_005902.4(SMAD3):c.981C>G (p.His327Gln)
|
rs780274581
|
0.00003
|
NM_006397.3(RNASEH2A):c.*50T>C
|
rs199822158
|
0.00003
|
NM_006397.3(RNASEH2A):c.-25A>G
|
rs886054235
|
0.00003
|
NM_006397.3(RNASEH2A):c.407C>G (p.Thr136Ser)
|
rs1459366188
|
0.00003
|
NM_006397.3(RNASEH2A):c.427G>A (p.Val143Ile)
|
rs1033081366
|
0.00003
|
NM_006397.3(RNASEH2A):c.502G>T (p.Ala168Ser)
|
rs772940870
|
0.00003
|
NM_006397.3(RNASEH2A):c.542G>A (p.Cys181Tyr)
|
rs201041092
|
0.00003
|
NM_006397.3(RNASEH2A):c.715C>T (p.Arg239Cys)
|
rs372667206
|
0.00003
|
NM_006397.3(RNASEH2A):c.719C>T (p.Thr240Met)
|
rs79843600
|
0.00003
|
NM_006397.3(RNASEH2A):c.752A>G (p.Asp251Gly)
|
rs768983249
|
0.00003
|
NM_006397.3(RNASEH2A):c.779A>G (p.Glu260Gly)
|
rs770898096
|
0.00003
|
NM_006397.3(RNASEH2A):c.866T>G (p.Leu289Arg)
|
rs745764952
|
0.00003
|
NM_006397.3(RNASEH2A):c.872G>A (p.Arg291His)
|
rs75037667
|
0.00003
|
NM_006929.5(SKIC2):c.1243C>T (p.Arg415Trp)
|
rs138507648
|
0.00003
|
NM_006929.5(SKIC2):c.2165G>A (p.Arg722Gln)
|
rs768031925
|
0.00003
|
NM_006929.5(SKIC2):c.2566T>C (p.Leu856=)
|
rs774246307
|
0.00003
|
NM_006929.5(SKIC2):c.2704G>A (p.Val902Met)
|
rs578239723
|
0.00003
|
NM_006929.5(SKIC2):c.3077A>G (p.Lys1026Arg)
|
rs373527237
|
0.00003
|
NM_006929.5(SKIC2):c.3540+7A>G
|
rs767834988
|
0.00003
|
NM_006929.5(SKIC2):c.3719C>T (p.Ala1240Val)
|
rs774251531
|
0.00003
|
NM_007194.4(CHEK2):c.1133C>T (p.Thr378Ile)
|
rs587780167
|
0.00003
|
NM_007194.4(CHEK2):c.1215C>A (p.Asn405Lys)
|
rs587780171
|
0.00003
|
NM_007194.4(CHEK2):c.953G>A (p.Arg318His)
|
rs143611747
|
0.00003
|
NM_012275.3(IL36RN):c.*1844A>G
|
rs776033400
|
0.00003
|
NM_012275.3(IL36RN):c.*185C>T
|
rs3207837
|
0.00003
|
NM_012275.3(IL36RN):c.*883T>C
|
rs1044606674
|
0.00003
|
NM_012275.3(IL36RN):c.115+5G>A
|
rs772037773
|
0.00003
|
NM_012275.3(IL36RN):c.130G>A (p.Val44Met)
|
rs776622427
|
0.00003
|
NM_012275.3(IL36RN):c.188G>T (p.Gly63Val)
|
rs746941547
|
0.00003
|
NM_012275.3(IL36RN):c.334G>A (p.Glu112Lys)
|
rs143724424
|
0.00003
|
NM_015474.4(SAMHD1):c.1293A>T (p.Leu431Phe)
|
rs1356154563
|
0.00003
|
NM_015474.4(SAMHD1):c.831A>T (p.Glu277Asp)
|
rs202019609
|
0.00003
|
NM_015474.4(SAMHD1):c.990T>C (p.Asp330=)
|
rs756532676
|
0.00003
|
NM_016562.4(TLR7):c.2716G>A (p.Glu906Lys)
|
rs202022420
|
0.00003
|
NM_017617.5(NOTCH1):c.2266G>A (p.Glu756Lys)
|
rs1271941628
|
0.00003
|
NM_017617.5(NOTCH1):c.3664G>A (p.Val1222Met)
|
rs112900950
|
0.00003
|
NM_018699.4(PRDM5):c.650+5G>A
|
rs754469516
|
0.00003
|
NM_021803.4(IL21):c.119G>A (p.Arg40His)
|
rs141748932
|
0.00003
|
NM_022124.6(CDH23):c.227G>A (p.Arg76His)
|
rs373802615
|
0.00003
|
NM_022124.6(CDH23):c.2524C>T (p.Arg842Trp)
|
rs368496658
|
0.00003
|
NM_022124.6(CDH23):c.3172C>G (p.Leu1058Val)
|
rs748462315
|
0.00003
|
NM_022124.6(CDH23):c.3739C>T (p.Arg1247Cys)
|
rs202204597
|
0.00003
|
NM_022124.6(CDH23):c.4249C>T (p.Arg1417Trp)
|
rs756231829
|
0.00003
|
NM_022124.6(CDH23):c.7466G>A (p.Arg2489His)
|
rs141986620
|
0.00003
|
NM_022124.6(CDH23):c.7634C>T (p.Thr2545Ile)
|
rs763947401
|
0.00003
|
NM_022124.6(CDH23):c.7822C>T (p.Arg2608Cys)
|
rs370922401
|
0.00003
|
NM_022124.6(CDH23):c.9002G>A (p.Arg3001Gln)
|
rs111033467
|
0.00003
|
NM_022124.6(CDH23):c.9127C>T (p.Arg3043Trp)
|
rs375907609
|
0.00003
|
NM_022124.6(CDH23):c.9175C>A (p.Pro3059Thr)
|
rs780514498
|
0.00003
|
NM_022124.6(CDH23):c.9565C>T (p.Arg3189Trp)
|
rs121908353
|
0.00003
|
NM_022166.4(XYLT1):c.2807C>T (p.Thr936Met)
|
rs768752782
|
0.00003
|
NM_022168.4(IFIH1):c.1120C>T (p.Arg374Cys)
|
rs113854430
|
0.00003
|
NM_022168.4(IFIH1):c.1166G>A (p.Gly389Glu)
|
rs765985079
|
0.00003
|
NM_022168.4(IFIH1):c.1240G>C (p.Ala414Pro)
|
rs201917037
|
0.00003
|
NM_022168.4(IFIH1):c.1457G>C (p.Gly486Ala)
|
rs141748480
|
0.00003
|
NM_022168.4(IFIH1):c.1486G>A (p.Ala496Thr)
|
rs763096939
|
0.00003
|
NM_022168.4(IFIH1):c.1865C>T (p.Ala622Val)
|
rs186942719
|
0.00003
|
NM_022168.4(IFIH1):c.1948G>A (p.Asp650Asn)
|
rs567418553
|
0.00003
|
NM_022168.4(IFIH1):c.2045-1G>A
|
rs748813106
|
0.00003
|
NM_022168.4(IFIH1):c.2182C>T (p.Arg728Ter)
|
rs201193151
|
0.00003
|
NM_022168.4(IFIH1):c.2305-2A>G
|
rs199696786
|
0.00003
|
NM_022168.4(IFIH1):c.2447del (p.Met816fs)
|
rs1349369420
|
0.00003
|
NM_022168.4(IFIH1):c.2616+6G>T
|
rs761784724
|
0.00003
|
NM_022168.4(IFIH1):c.2657T>C (p.Met886Thr)
|
rs748688202
|
0.00003
|
NM_022168.4(IFIH1):c.3055del (p.Cys1019fs)
|
rs1392296770
|
0.00003
|
NM_022168.4(IFIH1):c.63G>T (p.Arg21Ser)
|
rs553228814
|
0.00003
|
NM_022168.4(IFIH1):c.949C>T (p.Gln317Ter)
|
rs74162079
|
0.00003
|
NM_023110.3(FGFR1):c.1424G>A (p.Arg475Gln)
|
rs747333248
|
0.00003
|
NM_024408.4(NOTCH2):c.2642C>T (p.Pro881Leu)
|
rs782728045
|
0.00003
|
NM_024408.4(NOTCH2):c.3430A>G (p.Ser1144Gly)
|
rs143866883
|
0.00003
|
NM_024408.4(NOTCH2):c.3467A>G (p.Asn1156Ser)
|
rs782760871
|
0.00003
|
NM_024408.4(NOTCH2):c.3556T>A (p.Tyr1186Asn)
|
rs377058108
|
0.00003
|
NM_024408.4(NOTCH2):c.3652C>T (p.Arg1218Trp)
|
rs587641573
|
0.00003
|
NM_024408.4(NOTCH2):c.4005G>A (p.Pro1335=)
|
rs118188023
|
0.00003
|
NM_024408.4(NOTCH2):c.4270A>G (p.Thr1424Ala)
|
rs760325217
|
0.00003
|
NM_024408.4(NOTCH2):c.4688G>A (p.Arg1563His)
|
rs767706572
|
0.00003
|
NM_024408.4(NOTCH2):c.5684G>A (p.Arg1895His)
|
rs201996575
|
0.00003
|
NM_024408.4(NOTCH2):c.6343A>G (p.Ser2115Gly)
|
rs34891988
|
0.00003
|
NM_024408.4(NOTCH2):c.6547A>G (p.Met2183Val)
|
rs748538625
|
0.00003
|
NM_024408.4(NOTCH2):c.6808A>G (p.Met2270Val)
|
rs145628676
|
0.00003
|
NM_024408.4(NOTCH2):c.6956C>T (p.Ala2319Val)
|
rs373527990
|
0.00003
|
NM_024408.4(NOTCH2):c.6985C>T (p.Pro2329Ser)
|
rs1278379367
|
0.00003
|
NM_024408.4(NOTCH2):c.6999G>A (p.Ala2333=)
|
rs760004891
|
0.00003
|
NM_024408.4(NOTCH2):c.7342G>T (p.Ala2448Ser)
|
rs764210725
|
0.00003
|
NM_024408.4(NOTCH2):c.7377G>A (p.Met2459Ile)
|
rs139658777
|
0.00003
|
NM_024529.5(CDC73):c.*2963A>G
|
rs886045731
|
0.00003
|
NM_024529.5(CDC73):c.*2982T>C
|
rs886045732
|
0.00003
|
NM_024529.5(CDC73):c.*463A>G
|
rs879039427
|
0.00003
|
NM_024529.5(CDC73):c.1304T>C (p.Met435Thr)
|
rs202209013
|
0.00003
|
NM_024529.5(CDC73):c.1417+9C>T
|
rs769784756
|
0.00003
|
NM_024529.5(CDC73):c.1418-10C>G
|
rs768713729
|
0.00003
|
NM_024529.5(CDC73):c.680G>A (p.Arg227Lys)
|
rs145694828
|
0.00003
|
NM_024570.4(RNASEH2B):c.-145G>A
|
rs1227696445
|
0.00003
|
NM_024570.4(RNASEH2B):c.165G>T (p.Met55Ile)
|
rs1292841062
|
0.00003
|
NM_024570.4(RNASEH2B):c.245-8A>G
|
rs1057517815
|
0.00003
|
NM_024570.4(RNASEH2B):c.269C>T (p.Pro90Leu)
|
rs770203126
|
0.00003
|
NM_024570.4(RNASEH2B):c.407A>C (p.Lys136Thr)
|
rs199935006
|
0.00003
|
NM_024570.4(RNASEH2B):c.440A>C (p.Asn147Thr)
|
rs746633003
|
0.00003
|
NM_024570.4(RNASEH2B):c.914A>C (p.Asn305Thr)
|
rs768415436
|
0.00003
|
NM_030777.4(SLC2A10):c.*1628T>A
|
rs886056734
|
0.00003
|
NM_030777.4(SLC2A10):c.*2254del
|
rs886056737
|
0.00003
|
NM_030777.4(SLC2A10):c.-60G>T
|
rs886056722
|
0.00003
|
NM_030777.4(SLC2A10):c.119T>C (p.Phe40Ser)
|
rs372166877
|
0.00003
|
NM_030777.4(SLC2A10):c.1351T>G (p.Cys451Gly)
|
rs199599532
|
0.00003
|
NM_030777.4(SLC2A10):c.1402G>A (p.Asp468Asn)
|
rs768345011
|
0.00003
|
NM_030777.4(SLC2A10):c.1547G>A (p.Arg516Gln)
|
rs760437795
|
0.00003
|
NM_030777.4(SLC2A10):c.1596C>T (p.Tyr532=)
|
rs886056727
|
0.00003
|
NM_030777.4(SLC2A10):c.322G>A (p.Val108Ile)
|
rs373375540
|
0.00003
|
NM_030777.4(SLC2A10):c.920T>A (p.Met307Lys)
|
rs768142427
|
0.00003
|
NM_030777.4(SLC2A10):c.923C>T (p.Ala308Val)
|
rs776373143
|
0.00003
|
NM_030777.4(SLC2A10):c.929C>T (p.Ser310Phe)
|
rs763521707
|
0.00003
|
NM_031229.4(RBCK1):c.1028C>T (p.Ala343Val)
|
rs1232409954
|
0.00003
|
NM_031229.4(RBCK1):c.1285C>T (p.Arg429Trp)
|
rs764244683
|
0.00003
|
NM_031229.4(RBCK1):c.1346A>G (p.Gln449Arg)
|
rs371077650
|
0.00003
|
NM_031229.4(RBCK1):c.256G>C (p.Asp86His)
|
rs759833242
|
0.00003
|
NM_031229.4(RBCK1):c.326G>A (p.Arg109Gln)
|
rs568820415
|
0.00003
|
NM_031229.4(RBCK1):c.338C>T (p.Thr113Ile)
|
rs372591105
|
0.00003
|
NM_031229.4(RBCK1):c.473A>G (p.Lys158Arg)
|
rs772796019
|
0.00003
|
NM_031229.4(RBCK1):c.482C>T (p.Thr161Met)
|
rs766841580
|
0.00003
|
NM_031229.4(RBCK1):c.64G>A (p.Gly22Arg)
|
rs546711324
|
0.00003
|
NM_031229.4(RBCK1):c.699C>G (p.Asp233Glu)
|
rs746724862
|
0.00003
|
NM_032193.4(RNASEH2C):c.*29A>G
|
rs886048499
|
0.00003
|
NM_032193.4(RNASEH2C):c.472C>G (p.His158Asp)
|
rs759118175
|
0.00003
|
NM_032638.5(GATA2):c.1286G>C (p.Ser429Thr)
|
rs201155045
|
0.00003
|
NM_033629.6(TREX1):c.-26-1G>A
|
rs749323787
|
0.00003
|
NM_033629.6(TREX1):c.587C>T (p.Thr196Met)
|
rs754998766
|
0.00003
|
NM_033629.6(TREX1):c.649C>T (p.Arg217Trp)
|
rs201068640
|
0.00003
|
NM_033629.6(TREX1):c.690G>C (p.Arg230Ser)
|
rs55691060
|
0.00003
|
NM_033629.6(TREX1):c.719G>A (p.Arg240Lys)
|
rs745707260
|
0.00003
|
NM_033629.6(TREX1):c.73C>A (p.Pro25Thr)
|
rs748145509
|
0.00003
|
NM_052989.3(IFT122):c.732C>T (p.Asp244=)
|
rs202074599
|
0.00003
|
NM_054027.6(ANKH):c.*2694T>C
|
rs886060075
|
0.00003
|
NM_054027.6(ANKH):c.*2770C>T
|
rs563898623
|
0.00003
|
NM_054027.6(ANKH):c.*5887G>C
|
rs1054439108
|
0.00003
|
NM_054027.6(ANKH):c.1000C>G (p.Leu334Val)
|
rs199961741
|
0.00003
|
NM_058172.6(ANTXR2):c.*1682T>C
|
rs962595800
|
0.00003
|
NM_058172.6(ANTXR2):c.*3473A>G
|
rs1427833463
|
0.00003
|
NM_058172.6(ANTXR2):c.380C>T (p.Ala127Val)
|
rs530888685
|
0.00003
|
NM_058172.6(ANTXR2):c.745C>T (p.Arg249Trp)
|
rs377185226
|
0.00003
|
NM_144687.4(NLRP12):c.-2C>G
|
rs142898715
|
0.00003
|
NM_144687.4(NLRP12):c.1109G>A (p.Arg370Lys)
|
rs764966959
|
0.00003
|
NM_144687.4(NLRP12):c.1343G>C (p.Gly448Ala)
|
rs104895566
|
0.00003
|
NM_144687.4(NLRP12):c.1645G>A (p.Ala549Thr)
|
rs761571455
|
0.00003
|
NM_144687.4(NLRP12):c.1782G>A (p.Trp594Ter)
|
rs953567955
|
0.00003
|
NM_144687.4(NLRP12):c.1996T>C (p.Tyr666His)
|
rs766112183
|
0.00003
|
NM_144687.4(NLRP12):c.2020G>T (p.Gly674Trp)
|
rs139937024
|
0.00003
|
NM_144687.4(NLRP12):c.2052G>A (p.Ala684=)
|
rs755768331
|
0.00003
|
NM_144687.4(NLRP12):c.206C>T (p.Ala69Val)
|
rs372898890
|
0.00003
|
NM_144687.4(NLRP12):c.2072+4A>G
|
rs887585784
|
0.00003
|
NM_144687.4(NLRP12):c.2623G>A (p.Glu875Lys)
|
rs376225539
|
0.00003
|
NM_144687.4(NLRP12):c.3003C>T (p.Thr1001=)
|
rs556001110
|
0.00003
|
NM_144687.4(NLRP12):c.308C>T (p.Pro103Leu)
|
rs141436635
|
0.00003
|
NM_144687.4(NLRP12):c.311C>G (p.Ser104Cys)
|
rs369508681
|
0.00003
|
NM_144687.4(NLRP12):c.3151C>T (p.Arg1051Ter)
|
rs199475871
|
0.00003
|
NM_144687.4(NLRP12):c.35G>A (p.Arg12His)
|
rs376754003
|
0.00003
|
NM_144687.4(NLRP12):c.622G>A (p.Glu208Lys)
|
rs751219722
|
0.00003
|
NM_144687.4(NLRP12):c.84C>G (p.Phe28Leu)
|
rs143182167
|
0.00003
|
NM_144687.4(NLRP12):c.858C>T (p.Pro286=)
|
rs145171629
|
0.00003
|
NM_148919.4(PSMB8):c.*231C>T
|
rs539015992
|
0.00003
|
NM_148919.4(PSMB8):c.272G>A (p.Arg91Gln)
|
rs780859553
|
0.00003
|
NM_148919.4(PSMB8):c.537+8C>T
|
rs767292865
|
0.00003
|
NM_173841.3(IL1RN):c.28G>C (p.Gly10Arg)
|
rs770976676
|
0.00003
|
NM_173842.3(IL1RN):c.241C>G (p.Leu81Val)
|
rs374268790
|
0.00003
|
NM_173842.3(IL1RN):c.374T>G (p.Phe125Cys)
|
rs1253995385
|
0.00003
|
NM_173842.3(IL1RN):c.414T>C (p.Ser138=)
|
rs146491054
|
0.00003
|
NM_173842.3(IL1RN):c.427G>A (p.Gly143Ser)
|
rs143317628
|
0.00003
|
NM_173842.3(IL1RN):c.79C>T (p.Pro27Ser)
|
rs747206860
|
0.00003
|
NM_183235.3(RAB27A):c.11G>T (p.Gly4Val)
|
rs539575657
|
0.00003
|
NM_183235.3(RAB27A):c.275C>T (p.Ala92Val)
|
rs137960099
|
0.00003
|
NM_183235.3(RAB27A):c.453C>T (p.Leu151=)
|
rs753732362
|
0.00003
|
NM_198253.3(TERT):c.1393G>C (p.Val465Leu)
|
rs758110675
|
0.00003
|
NM_198253.3(TERT):c.150G>A (p.Leu50=)
|
rs886044153
|
0.00003
|
NM_198253.3(TERT):c.863C>T (p.Ala288Val)
|
rs774657340
|
0.00003
|
NM_198282.4(STING1):c.1000C>T (p.Arg334Trp)
|
rs1197819878
|
0.00003
|
NM_198282.4(STING1):c.503T>C (p.Leu168Pro)
|
rs532530144
|
0.00003
|
NM_198282.4(STING1):c.688G>A (p.Gly230Ser)
|
rs370230460
|
0.00003
|
NM_199242.3(UNC13D):c.*3G>A
|
rs531729868
|
0.00003
|
NM_207122.2(EXT2):c.*339C>T
|
rs759615273
|
0.00003
|
NM_207122.2(EXT2):c.1200C>A (p.Phe400Leu)
|
rs773613001
|
0.00003
|
NM_207122.2(EXT2):c.1532T>C (p.Val511Ala)
|
rs1470381472
|
0.00003
|
NM_207122.2(EXT2):c.1564C>T (p.Arg522Cys)
|
rs145507609
|
0.00003
|
NM_207122.2(EXT2):c.383G>A (p.Arg128Gln)
|
rs771039412
|
0.00003
|
NM_207122.2(EXT2):c.425A>G (p.Tyr142Cys)
|
rs762657738
|
0.00003
|
NM_207122.2(EXT2):c.626+3A>C
|
rs200934340
|
0.00003
|
NM_207122.2(EXT2):c.748C>T (p.Arg250Trp)
|
rs183424469
|
0.00003
|
NM_212482.4(FN1):c.1757A>G (p.Gln586Arg)
|
rs138219703
|
0.00003
|
NM_212482.4(FN1):c.3061C>T (p.Arg1021Trp)
|
rs748276504
|
0.00003
|
NM_212482.4(FN1):c.4858G>A (p.Ala1620Thr)
|
rs766780476
|
0.00003
|
NM_212482.4(FN1):c.5237C>T (p.Pro1746Leu)
|
rs923283804
|
0.00003
|
NM_212482.4(FN1):c.5608G>T (p.Val1870Leu)
|
rs375667567
|
0.00003
|
NM_212482.4(FN1):c.6506C>T (p.Pro2169Leu)
|
rs755984905
|
0.00003
|
NM_000038.6(APC):c.1538T>C (p.Val513Ala)
|
rs876658167
|
0.00002
|
NM_000038.6(APC):c.3661C>T (p.Pro1221Ser)
|
rs760999992
|
0.00002
|
NM_000038.6(APC):c.3689A>G (p.Gln1230Arg)
|
rs764706774
|
0.00002
|
NM_000038.6(APC):c.4399C>T (p.Pro1467Ser)
|
rs749142480
|
0.00002
|
NM_000038.6(APC):c.5363G>A (p.Arg1788His)
|
rs201472075
|
0.00002
|
NM_000038.6(APC):c.7105C>T (p.Pro2369Ser)
|
rs377308875
|
0.00002
|
NM_000038.6(APC):c.7166G>A (p.Ser2389Asn)
|
rs779287035
|
0.00002
|
NM_000038.6(APC):c.8017A>G (p.Arg2673Gly)
|
rs767286063
|
0.00002
|
NM_000059.4(BRCA2):c.4779A>C (p.Glu1593Asp)
|
rs80358703
|
0.00002
|
NM_000081.4(LYST):c.6181G>A (p.Gly2061Arg)
|
rs745789615
|
0.00002
|
NM_000088.4(COL1A1):c.1062A>T (p.Glu354Asp)
|
rs778733293
|
0.00002
|
NM_000095.3(COMP):c.217+4A>G
|
rs779140776
|
0.00002
|
NM_000127.3(EXT1):c.1360G>A (p.Val454Ile)
|
rs201504622
|
0.00002
|
NM_000127.3(EXT1):c.1450A>T (p.Ile484Phe)
|
rs763107867
|
0.00002
|
NM_000127.3(EXT1):c.1705G>A (p.Val569Met)
|
rs1428345482
|
0.00002
|
NM_000127.3(EXT1):c.2072G>A (p.Arg691His)
|
rs746678682
|
0.00002
|
NM_000127.3(EXT1):c.210A>G (p.Gln70=)
|
rs367543871
|
0.00002
|
NM_000127.3(EXT1):c.2171T>C (p.Leu724Pro)
|
rs758347621
|
0.00002
|
NM_000127.3(EXT1):c.74G>A (p.Gly25Asp)
|
rs765050783
|
0.00002
|
NM_000127.3(EXT1):c.974G>A (p.Arg325Gln)
|
rs748651137
|
0.00002
|
NM_000138.5(FBN1):c.*1249A>G
|
rs1456413075
|
0.00002
|
NM_000138.5(FBN1):c.*1398G>C
|
rs886051234
|
0.00002
|
NM_000138.5(FBN1):c.*253A>T
|
rs539383558
|
0.00002
|
NM_000138.5(FBN1):c.1220G>A (p.Gly407Asp)
|
rs758241018
|
0.00002
|
NM_000138.5(FBN1):c.1370G>A (p.Arg457His)
|
rs141217134
|
0.00002
|
NM_000138.5(FBN1):c.1468+4C>T
|
rs765579667
|
0.00002
|
NM_000138.5(FBN1):c.1547G>A (p.Arg516Gln)
|
rs775489067
|
0.00002
|
NM_000138.5(FBN1):c.1562G>A (p.Ser521Asn)
|
rs749253325
|
0.00002
|
NM_000138.5(FBN1):c.2093C>T (p.Pro698Leu)
|
rs764827921
|
0.00002
|
NM_000138.5(FBN1):c.2344A>G (p.Arg782Gly)
|
rs752891726
|
0.00002
|
NM_000138.5(FBN1):c.2547C>G (p.Ile849Met)
|
rs778258207
|
0.00002
|
NM_000138.5(FBN1):c.2582G>A (p.Arg861Gln)
|
rs794728328
|
0.00002
|
NM_000138.5(FBN1):c.2854+5A>G
|
rs762989672
|
0.00002
|
NM_000138.5(FBN1):c.2893G>C (p.Glu965Gln)
|
rs748905831
|
0.00002
|
NM_000138.5(FBN1):c.2950G>A (p.Val984Ile)
|
rs747713929
|
0.00002
|
NM_000138.5(FBN1):c.2980G>A (p.Glu994Lys)
|
rs780301913
|
0.00002
|
NM_000138.5(FBN1):c.3026C>G (p.Pro1009Arg)
|
rs148076256
|
0.00002
|
NM_000138.5(FBN1):c.3142A>G (p.Ile1048Val)
|
rs2229324
|
0.00002
|
NM_000138.5(FBN1):c.3359A>T (p.Asp1120Val)
|
rs1183556572
|
0.00002
|
NM_000138.5(FBN1):c.3374G>A (p.Arg1125Gln)
|
rs768831064
|
0.00002
|
NM_000138.5(FBN1):c.3403A>G (p.Ser1135Gly)
|
rs749255004
|
0.00002
|
NM_000138.5(FBN1):c.3410G>A (p.Arg1137His)
|
rs137854456
|
0.00002
|
NM_000138.5(FBN1):c.3446A>G (p.Asn1149Ser)
|
rs147584221
|
0.00002
|
NM_000138.5(FBN1):c.346+6T>G
|
rs371159129
|
0.00002
|
NM_000138.5(FBN1):c.3785G>A (p.Arg1262Lys)
|
rs371103773
|
0.00002
|
NM_000138.5(FBN1):c.3937G>A (p.Gly1313Ser)
|
rs1156984408
|
0.00002
|
NM_000138.5(FBN1):c.4336+4A>C
|
rs764099050
|
0.00002
|
NM_000138.5(FBN1):c.4337-3A>C
|
rs770551687
|
0.00002
|
NM_000138.5(FBN1):c.4358C>T (p.Pro1453Leu)
|
rs368650399
|
0.00002
|
NM_000138.5(FBN1):c.4406G>A (p.Arg1469His)
|
rs397515808
|
0.00002
|
NM_000138.5(FBN1):c.467A>G (p.Asn156Ser)
|
rs779490973
|
0.00002
|
NM_000138.5(FBN1):c.4698G>A (p.Leu1566=)
|
rs143544916
|
0.00002
|
NM_000138.5(FBN1):c.4999G>A (p.Val1667Ile)
|
rs140626
|
0.00002
|
NM_000138.5(FBN1):c.5123G>A (p.Gly1708Glu)
|
rs758600004
|
0.00002
|
NM_000138.5(FBN1):c.5180G>A (p.Arg1727Gln)
|
rs780993677
|
0.00002
|
NM_000138.5(FBN1):c.5443G>A (p.Gly1815Ser)
|
rs745680336
|
0.00002
|
NM_000138.5(FBN1):c.5467G>A (p.Glu1823Lys)
|
rs567397762
|
0.00002
|
NM_000138.5(FBN1):c.5899G>T (p.Asp1967Tyr)
|
rs776999627
|
0.00002
|
NM_000138.5(FBN1):c.5918-12T>G
|
rs751115639
|
0.00002
|
NM_000138.5(FBN1):c.6007G>A (p.Gly2003Arg)
|
rs1413737899
|
0.00002
|
NM_000138.5(FBN1):c.601G>A (p.Gly201Arg)
|
rs748358548
|
0.00002
|
NM_000138.5(FBN1):c.6095C>G (p.Thr2032Ser)
|
rs756506237
|
0.00002
|
NM_000138.5(FBN1):c.619A>T (p.Thr207Ser)
|
rs1464303112
|
0.00002
|
NM_000138.5(FBN1):c.62C>T (p.Thr21Met)
|
rs1489806847
|
0.00002
|
NM_000138.5(FBN1):c.6534T>A (p.Asn2178Lys)
|
rs770257902
|
0.00002
|
NM_000138.5(FBN1):c.6616+5A>G
|
rs1381778697
|
0.00002
|
NM_000138.5(FBN1):c.6732G>A (p.Met2244Ile)
|
rs780960909
|
0.00002
|
NM_000138.5(FBN1):c.6844C>T (p.Arg2282Trp)
|
rs765205164
|
0.00002
|
NM_000138.5(FBN1):c.7231G>A (p.Asp2411Asn)
|
rs775558051
|
0.00002
|
NM_000138.5(FBN1):c.7400A>G (p.Gln2467Arg)
|
rs770839761
|
0.00002
|
NM_000138.5(FBN1):c.7501G>C (p.Val2501Leu)
|
rs371110611
|
0.00002
|
NM_000138.5(FBN1):c.7727G>A (p.Arg2576His)
|
rs369888822
|
0.00002
|
NM_000138.5(FBN1):c.8327G>A (p.Arg2776Gln)
|
rs748327743
|
0.00002
|
NM_000138.5(FBN1):c.832A>G (p.Lys278Glu)
|
rs775505429
|
0.00002
|
NM_000138.5(FBN1):c.8386G>A (p.Glu2796Lys)
|
rs112310699
|
0.00002
|
NM_000138.5(FBN1):c.8495G>A (p.Ser2832Asn)
|
rs571906167
|
0.00002
|
NM_000138.5(FBN1):c.8G>C (p.Arg3Pro)
|
rs149929989
|
0.00002
|
NM_000142.5(FGFR3):c.1645+8C>T
|
rs372987620
|
0.00002
|
NM_000222.3(KIT):c.2057G>A (p.Arg686His)
|
rs143772138
|
0.00002
|
NM_000222.3(KIT):c.2836C>T (p.Arg946Ter)
|
rs139000082
|
0.00002
|
NM_000222.3(KIT):c.2866C>T (p.Arg956Trp)
|
rs587778433
|
0.00002
|
NM_000243.3(MEFV):c.1061G>A (p.Arg354Gln)
|
rs763015849
|
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.1099C>G (p.Leu367Val)
|
rs1057519328
|
0.00002
|
NM_000243.3(MEFV):c.1229G>A (p.Arg410His)
|
rs1399033974
|
0.00002
|
NM_000243.3(MEFV):c.1735C>T (p.Arg579Cys)
|
rs762605919
|
0.00002
|
NM_000243.3(MEFV):c.1759+12G>A
|
rs749730274
|
0.00002
|
NM_000243.3(MEFV):c.1783G>A (p.Ala595Thr)
|
rs369069000
|
0.00002
|
NM_000243.3(MEFV):c.1792G>A (p.Val598Ile)
|
rs1028273722
|
0.00002
|
NM_000243.3(MEFV):c.1808A>G (p.Asp603Gly)
|
rs138462251
|
0.00002
|
NM_000243.3(MEFV):c.1898C>T (p.Pro633Leu)
|
rs976279218
|
0.00002
|
NM_000243.3(MEFV):c.192G>A (p.Glu64=)
|
rs547393490
|
0.00002
|
NM_000243.3(MEFV):c.199G>A (p.Val67Met)
|
rs1422054832
|
0.00002
|
NM_000243.3(MEFV):c.2122C>T (p.Arg708Cys)
|
rs104895202
|
0.00002
|
NM_000243.3(MEFV):c.2146A>G (p.Lys716Glu)
|
rs746092199
|
0.00002
|
NM_000243.3(MEFV):c.224G>A (p.Arg75Gln)
|
rs376891162
|
0.00002
|
NM_000243.3(MEFV):c.238C>T (p.Arg80Cys)
|
rs766608226
|
0.00002
|
NM_000243.3(MEFV):c.239G>A (p.Arg80His)
|
rs201075710
|
0.00002
|
NM_000243.3(MEFV):c.265G>A (p.Ala89Thr)
|
rs104895124
|
0.00002
|
NM_000243.3(MEFV):c.344C>G (p.Pro115Arg)
|
rs201766654
|
0.00002
|
NM_000243.3(MEFV):c.431G>A (p.Cys144Tyr)
|
rs773320625
|
0.00002
|
NM_000243.3(MEFV):c.56A>G (p.Tyr19Cys)
|
rs769605806
|
0.00002
|
NM_000243.3(MEFV):c.745A>G (p.Thr249Ala)
|
rs764952529
|
0.00002
|
NM_000243.3(MEFV):c.840G>A (p.Arg280=)
|
rs748624682
|
0.00002
|
NM_000243.3(MEFV):c.955G>A (p.Glu319Lys)
|
rs104895110
|
0.00002
|
NM_000246.4(CIITA):c.2817-8C>G
|
rs775728920
|
0.00002
|
NM_000302.4(PLOD1):c.1070C>T (p.Ala357Val)
|
rs763906693
|
0.00002
|
NM_000302.4(PLOD1):c.1153G>A (p.Val385Met)
|
rs371223839
|
0.00002
|
NM_000302.4(PLOD1):c.128G>A (p.Arg43His)
|
rs141704997
|
0.00002
|
NM_000302.4(PLOD1):c.1658C>T (p.Pro553Leu)
|
rs754569828
|
0.00002
|
NM_000302.4(PLOD1):c.1829G>A (p.Arg610Gln)
|
rs150184664
|
0.00002
|
NM_000302.4(PLOD1):c.182G>A (p.Gly61Glu)
|
rs1485759254
|
0.00002
|
NM_000302.4(PLOD1):c.1864C>T (p.Pro622Ser)
|
rs761352524
|
0.00002
|
NM_000302.4(PLOD1):c.1888G>A (p.Gly630Ser)
|
rs764750668
|
0.00002
|
NM_000302.4(PLOD1):c.1902+9G>T
|
rs200395169
|
0.00002
|
NM_000302.4(PLOD1):c.1960A>T (p.Met654Leu)
|
rs1085307517
|
0.00002
|
NM_000302.4(PLOD1):c.2009G>A (p.Arg670Gln)
|
rs1282397747
|
0.00002
|
NM_000302.4(PLOD1):c.2099A>G (p.His700Arg)
|
rs773756799
|
0.00002
|
NM_000302.4(PLOD1):c.2114C>T (p.Thr705Met)
|
rs377406897
|
0.00002
|
NM_000302.4(PLOD1):c.302+5G>A
|
rs749607584
|
0.00002
|
NM_000302.4(PLOD1):c.310G>A (p.Val104Met)
|
rs141809154
|
0.00002
|
NM_000302.4(PLOD1):c.410G>C (p.Arg137Thr)
|
rs1156606108
|
0.00002
|
NM_000302.4(PLOD1):c.625A>G (p.Asn209Asp)
|
rs746416126
|
0.00002
|
NM_000302.4(PLOD1):c.742-6C>T
|
rs569632202
|
0.00002
|
NM_000302.4(PLOD1):c.832A>C (p.Lys278Gln)
|
rs776949094
|
0.00002
|
NM_000302.4(PLOD1):c.844-6G>T
|
rs767068264
|
0.00002
|
NM_000302.4(PLOD1):c.910T>C (p.Phe304Leu)
|
rs760230526
|
0.00002
|
NM_000302.4(PLOD1):c.919C>T (p.Arg307Trp)
|
rs370736543
|
0.00002
|
NM_000302.4(PLOD1):c.971A>G (p.Asn324Ser)
|
rs200524993
|
0.00002
|
NM_000321.3(RB1):c.850A>G (p.Asn284Asp)
|
rs761609284
|
0.00002
|
NM_000388.4(CASR):c.2161C>T (p.Leu721Phe)
|
rs942603230
|
0.00002
|
NM_000388.4(CASR):c.220A>C (p.Met74Leu)
|
rs745377913
|
0.00002
|
NM_000388.4(CASR):c.2570T>C (p.Ile857Thr)
|
rs766445416
|
0.00002
|
NM_000388.4(CASR):c.2638G>T (p.Ala880Ser)
|
rs763865303
|
0.00002
|
NM_000388.4(CASR):c.2669G>A (p.Arg890His)
|
rs567996888
|
0.00002
|
NM_000388.4(CASR):c.2687G>A (p.Arg896His)
|
rs773552397
|
0.00002
|
NM_000388.4(CASR):c.3168G>T (p.Val1056=)
|
rs886057831
|
0.00002
|
NM_000388.4(CASR):c.930C>T (p.Tyr310=)
|
rs201737357
|
0.00002
|
NM_000393.5(COL5A2):c.1717-3C>T
|
rs760304144
|
0.00002
|
NM_000431.4(MVK):c.178C>T (p.Arg60Trp)
|
rs202167435
|
0.00002
|
NM_000431.4(MVK):c.298G>A (p.Asp100Asn)
|
rs751713601
|
0.00002
|
NM_000431.4(MVK):c.418G>A (p.Gly140Arg)
|
rs781108404
|
0.00002
|
NM_000431.4(MVK):c.511G>A (p.Gly171Arg)
|
rs104895337
|
0.00002
|
NM_000431.4(MVK):c.747C>T (p.Gly249=)
|
rs144788669
|
0.00002
|
NM_000431.4(MVK):c.78+8G>A
|
rs766391278
|
0.00002
|
NM_000431.4(MVK):c.870G>T (p.Gln290His)
|
rs376025633
|
0.00002
|
NM_000435.3(NOTCH3):c.2051C>T (p.Pro684Leu)
|
rs770737365
|
0.00002
|
NM_000546.6(TP53):c.466C>T (p.Arg156Cys)
|
rs563378859
|
0.00002
|
NM_000628.5(IL10RB):c.328G>A (p.Asp110Asn)
|
rs757581728
|
0.00002
|
NM_000628.5(IL10RB):c.389G>A (p.Arg130His)
|
rs775140370
|
0.00002
|
NM_000628.5(IL10RB):c.49+5G>A
|
rs1053750670
|
0.00002
|
NM_000628.5(IL10RB):c.593G>A (p.Arg198Gln)
|
rs774890824
|
0.00002
|
NM_001032283.3(TMPO):c.248C>T (p.Ala83Val)
|
rs730880228
|
0.00002
|
NM_001032283.3(TMPO):c.318T>A (p.Asp106Glu)
|
rs772509210
|
0.00002
|
NM_001032283.3(TMPO):c.370C>T (p.Leu124Phe)
|
rs375619307
|
0.00002
|
NM_001032283.3(TMPO):c.497C>A (p.Ser166Tyr)
|
rs147012167
|
0.00002
|
NM_001032283.3(TMPO):c.565+1078A>G
|
rs774074641
|
0.00002
|
NM_001032283.3(TMPO):c.565+1246T>C
|
rs144465114
|
0.00002
|
NM_001032283.3(TMPO):c.565+1449A>G
|
rs754951098
|
0.00002
|
NM_001032283.3(TMPO):c.565+1597T>C
|
rs1227785613
|
0.00002
|
NM_001032283.3(TMPO):c.565+1829dup
|
rs1877366767
|
0.00002
|
NM_001032283.3(TMPO):c.565+2095A>C
|
rs557983360
|
0.00002
|
NM_001032283.3(TMPO):c.565+2137A>G
|
rs886049913
|
0.00002
|
NM_001032283.3(TMPO):c.565+2248G>A
|
rs150445385
|
0.00002
|
NM_001032283.3(TMPO):c.70A>C (p.Asn24His)
|
rs727505279
|
0.00002
|
NM_001032283.3(TMPO):c.85G>A (p.Ala29Thr)
|
rs1174108011
|
0.00002
|
NM_001042492.3(NF1):c.1247G>A (p.Arg416Gln)
|
rs1343309278
|
0.00002
|
NM_001042492.3(NF1):c.212T>C (p.Phe71Ser)
|
rs752396270
|
0.00002
|
NM_001042492.3(NF1):c.2458G>A (p.Val820Met)
|
rs761408020
|
0.00002
|
NM_001042492.3(NF1):c.3374C>T (p.Ala1125Val)
|
rs902739109
|
0.00002
|
NM_001042492.3(NF1):c.4426C>T (p.Arg1476Cys)
|
rs771420960
|
0.00002
|
NM_001042492.3(NF1):c.4657C>G (p.Pro1553Ala)
|
rs1033427343
|
0.00002
|
NM_001042492.3(NF1):c.5225A>G (p.Asn1742Ser)
|
rs745407845
|
0.00002
|
NM_001042492.3(NF1):c.5289A>G (p.Gln1763=)
|
rs199703296
|
0.00002
|
NM_001042492.3(NF1):c.5381T>C (p.Val1794Ala)
|
rs142867979
|
0.00002
|
NM_001042492.3(NF1):c.7055A>G (p.Asn2352Ser)
|
rs763082717
|
0.00002
|
NM_001042492.3(NF1):c.7484C>T (p.Ser2495Phe)
|
rs757245615
|
0.00002
|
NM_001042492.3(NF1):c.7523A>G (p.Tyr2508Cys)
|
rs762169098
|
0.00002
|
NM_001042492.3(NF1):c.8456G>A (p.Ser2819Asn)
|
rs934837854
|
0.00002
|
NM_001042492.3(NF1):c.847G>T (p.Asp283Tyr)
|
rs200572531
|
0.00002
|
NM_001065.4(TNFRSF1A):c.-62C>A
|
rs563393671
|
0.00002
|
NM_001065.4(TNFRSF1A):c.11C>T (p.Ser4Phe)
|
rs200593961
|
0.00002
|
NM_001065.4(TNFRSF1A):c.228G>A (p.Gly76=)
|
rs104895274
|
0.00002
|
NM_001065.4(TNFRSF1A):c.823C>T (p.Pro275Ser)
|
rs758118907
|
0.00002
|
NM_001083116.3(PRF1):c.886T>C (p.Tyr296His)
|
rs148237800
|
0.00002
|
NM_001111.5(ADAR):c.*1728C>T
|
rs886045322
|
0.00002
|
NM_001111.5(ADAR):c.*2636G>A
|
rs1019588923
|
0.00002
|
NM_001111.5(ADAR):c.*317T>G
|
rs886045335
|
0.00002
|
NM_001111.5(ADAR):c.*319del
|
rs774214510
|
0.00002
|
NM_001111.5(ADAR):c.-154C>T
|
rs1470021699
|
0.00002
|
NM_001111.5(ADAR):c.1565A>C (p.Asn522Thr)
|
rs766604638
|
0.00002
|
NM_001111.5(ADAR):c.1654G>A (p.Gly552Arg)
|
rs771516546
|
0.00002
|
NM_001111.5(ADAR):c.1702A>G (p.Ile568Val)
|
rs755915771
|
0.00002
|
NM_001111.5(ADAR):c.172G>A (p.Gly58Arg)
|
rs1208088462
|
0.00002
|
NM_001111.5(ADAR):c.1765A>G (p.Thr589Ala)
|
rs764506305
|
0.00002
|
NM_001111.5(ADAR):c.1785+5G>A
|
rs17843866
|
0.00002
|
NM_001111.5(ADAR):c.185C>T (p.Pro62Leu)
|
rs754467673
|
0.00002
|
NM_001111.5(ADAR):c.217C>G (p.Pro73Ala)
|
rs894373560
|
0.00002
|
NM_001111.5(ADAR):c.2206C>T (p.Arg736Cys)
|
rs770309575
|
0.00002
|
NM_001111.5(ADAR):c.2360C>T (p.Ala787Val)
|
rs367868255
|
0.00002
|
NM_001111.5(ADAR):c.2584T>G (p.Ser862Ala)
|
rs776268194
|
0.00002
|
NM_001111.5(ADAR):c.2830A>G (p.Lys944Glu)
|
rs373564780
|
0.00002
|
NM_001111.5(ADAR):c.3082G>A (p.Gly1028Arg)
|
rs1236873184
|
0.00002
|
NM_001111.5(ADAR):c.341G>A (p.Arg114His)
|
rs770167108
|
0.00002
|
NM_001111.5(ADAR):c.3519C>T (p.Tyr1173=)
|
rs755264415
|
0.00002
|
NM_001111.5(ADAR):c.500C>T (p.Thr167Ile)
|
rs747418036
|
0.00002
|
NM_001111.5(ADAR):c.547G>A (p.Gly183Ser)
|
rs779939725
|
0.00002
|
NM_001111.5(ADAR):c.566C>T (p.Ala189Val)
|
rs182793061
|
0.00002
|
NM_001111.5(ADAR):c.59A>G (p.Tyr20Cys)
|
rs754158375
|
0.00002
|
NM_001111.5(ADAR):c.755C>G (p.Ala252Gly)
|
rs1314331716
|
0.00002
|
NM_001111.5(ADAR):c.762C>G (p.Asn254Lys)
|
rs534876356
|
0.00002
|
NM_001122681.2(SH3BP2):c.*128T>C
|
rs886059359
|
0.00002
|
NM_001122681.2(SH3BP2):c.*1489G>A
|
rs886059364
|
0.00002
|
NM_001122681.2(SH3BP2):c.*3387G>A
|
rs886059376
|
0.00002
|
NM_001122681.2(SH3BP2):c.*6061G>C
|
rs886059386
|
0.00002
|
NM_001122681.2(SH3BP2):c.1117A>G (p.Met373Val)
|
rs1242360913
|
0.00002
|
NM_001122681.2(SH3BP2):c.1133T>C (p.Val378Ala)
|
rs774058201
|
0.00002
|
NM_001122681.2(SH3BP2):c.1187T>C (p.Met396Thr)
|
rs749171361
|
0.00002
|
NM_001122681.2(SH3BP2):c.1327G>A (p.Asp443Asn)
|
rs907019445
|
0.00002
|
NM_001122681.2(SH3BP2):c.1448G>C (p.Gly483Ala)
|
rs748160727
|
0.00002
|
NM_001122681.2(SH3BP2):c.1462C>T (p.Arg488Trp)
|
rs373554386
|
0.00002
|
NM_001122681.2(SH3BP2):c.1534C>T (p.Arg512Cys)
|
rs369562627
|
0.00002
|
NM_001122681.2(SH3BP2):c.353G>A (p.Arg118His)
|
rs772096716
|
0.00002
|
NM_001122681.2(SH3BP2):c.560A>G (p.Asp187Gly)
|
rs753681184
|
0.00002
|
NM_001122681.2(SH3BP2):c.574G>A (p.Gly192Arg)
|
rs765339575
|
0.00002
|
NM_001122681.2(SH3BP2):c.632C>T (p.Thr211Met)
|
rs375942374
|
0.00002
|
NM_001122681.2(SH3BP2):c.688G>T (p.Gly230Cys)
|
rs769244623
|
0.00002
|
NM_001122681.2(SH3BP2):c.757G>A (p.Asp253Asn)
|
rs763881667
|
0.00002
|
NM_001122681.2(SH3BP2):c.788G>A (p.Arg263Gln)
|
rs748657780
|
0.00002
|
NM_001122681.2(SH3BP2):c.874C>T (p.Arg292Trp)
|
rs746025620
|
0.00002
|
NM_001127671.2(LIFR):c.2695G>A (p.Glu899Lys)
|
rs915137068
|
0.00002
|
NM_001128225.3(SLC39A13):c.584G>A (p.Gly195Asp)
|
rs750069673
|
0.00002
|
NM_001171.6(ABCC6):c.1088A>C (p.Gln363Pro)
|
rs944015667
|
0.00002
|
NM_001171.6(ABCC6):c.1491C>A (p.Asn497Lys)
|
rs72653770
|
0.00002
|
NM_001171.6(ABCC6):c.1735A>G (p.Lys579Glu)
|
rs749017755
|
0.00002
|
NM_001171.6(ABCC6):c.1774G>A (p.Val592Ile)
|
rs190761354
|
0.00002
|
NM_001171.6(ABCC6):c.2237T>C (p.Ile746Thr)
|
rs769753486
|
0.00002
|
NM_001171.6(ABCC6):c.2342C>T (p.Ala781Val)
|
rs72653791
|
0.00002
|
NM_001171.6(ABCC6):c.2387T>C (p.Ile796Thr)
|
rs776463091
|
0.00002
|
NM_001171.6(ABCC6):c.2428G>A (p.Val810Met)
|
rs72653795
|
0.00002
|
NM_001171.6(ABCC6):c.268G>A (p.Ala90Thr)
|
rs957828732
|
0.00002
|
NM_001171.6(ABCC6):c.3188T>G (p.Leu1063Arg)
|
rs72657695
|
0.00002
|
NM_001171.6(ABCC6):c.3506+15G>A
|
rs72664302
|
0.00002
|
NM_001171.6(ABCC6):c.3586C>G (p.His1196Asp)
|
rs146284800
|
0.00002
|
NM_001171.6(ABCC6):c.3723G>C (p.Trp1241Cys)
|
rs72657701
|
0.00002
|
NM_001171.6(ABCC6):c.3853G>A (p.Val1285Met)
|
rs141731889
|
0.00002
|
NM_001171.6(ABCC6):c.3882+5G>A
|
rs774245200
|
0.00002
|
NM_001171.6(ABCC6):c.3883-6G>A
|
rs72664214
|
0.00002
|
NM_001171.6(ABCC6):c.4241G>A (p.Arg1414His)
|
rs775319351
|
0.00002
|
NM_001199138.2(NLRC4):c.1047G>T (p.Met349Ile)
|
rs1331116780
|
0.00002
|
NM_001199138.2(NLRC4):c.104G>A (p.Arg35His)
|
rs755228287
|
0.00002
|
NM_001199138.2(NLRC4):c.105C>T (p.Arg35=)
|
rs751915363
|
0.00002
|
NM_001199138.2(NLRC4):c.106G>A (p.Glu36Lys)
|
rs766783309
|
0.00002
|
NM_001199138.2(NLRC4):c.1134T>G (p.His378Gln)
|
rs779291946
|
0.00002
|
NM_001199138.2(NLRC4):c.1156T>C (p.Phe386Leu)
|
rs1408462382
|
0.00002
|
NM_001199138.2(NLRC4):c.1225G>A (p.Glu409Lys)
|
rs144123569
|
0.00002
|
NM_001199138.2(NLRC4):c.129C>T (p.Cys43=)
|
rs200374202
|
0.00002
|
NM_001199138.2(NLRC4):c.1466G>C (p.Ser489Thr)
|
rs780366620
|
0.00002
|
NM_001199138.2(NLRC4):c.1940G>A (p.Arg647Lys)
|
rs1056856319
|
0.00002
|
NM_001199138.2(NLRC4):c.2112_2113del (p.Ser705fs)
|
rs1271759184
|
0.00002
|
NM_001199138.2(NLRC4):c.249C>T (p.Asp83=)
|
rs117094017
|
0.00002
|
NM_001199138.2(NLRC4):c.2802C>G (p.Asn934Lys)
|
rs748341490
|
0.00002
|
NM_001199138.2(NLRC4):c.2957A>G (p.Lys986Arg)
|
rs552117780
|
0.00002
|
NM_001199138.2(NLRC4):c.565G>A (p.Gly189Arg)
|
rs771648968
|
0.00002
|
NM_001199138.2(NLRC4):c.617G>C (p.Ser206Thr)
|
rs200612957
|
0.00002
|
NM_001199138.2(NLRC4):c.808C>T (p.Arg270Cys)
|
rs374448922
|
0.00002
|
NM_001199138.2(NLRC4):c.829G>A (p.Val277Ile)
|
rs770290700
|
0.00002
|
NM_001199138.2(NLRC4):c.863G>A (p.Arg288Gln)
|
rs1453937196
|
0.00002
|
NM_001199397.3(NEK1):c.2020G>C (p.Gly674Arg)
|
rs773244347
|
0.00002
|
NM_001243133.2(NLRP3):c.-203G>A
|
rs1042817230
|
0.00002
|
NM_001243133.2(NLRP3):c.-219G>A
|
rs1282180723
|
0.00002
|
NM_001243133.2(NLRP3):c.1102A>C (p.Ile368Leu)
|
rs200735245
|
0.00002
|
NM_001243133.2(NLRP3):c.1269G>A (p.Gln423=)
|
rs201035625
|
0.00002
|
NM_001243133.2(NLRP3):c.1333C>T (p.Leu445Phe)
|
rs202121800
|
0.00002
|
NM_001243133.2(NLRP3):c.1371G>T (p.Glu457Asp)
|
rs191754224
|
0.00002
|
NM_001243133.2(NLRP3):c.1384G>A (p.Ala462Thr)
|
rs762512734
|
0.00002
|
NM_001243133.2(NLRP3):c.1390C>A (p.Leu464Ile)
|
rs755565331
|
0.00002
|
NM_001243133.2(NLRP3):c.1642C>T (p.Arg548Cys)
|
rs201678213
|
0.00002
|
NM_001243133.2(NLRP3):c.1661G>A (p.Arg554Gln)
|
rs1558192523
|
0.00002
|
NM_001243133.2(NLRP3):c.1918T>G (p.Phe640Val)
|
rs1024570390
|
0.00002
|
NM_001243133.2(NLRP3):c.2150+4A>G
|
rs765108346
|
0.00002
|
NM_001243133.2(NLRP3):c.2285C>T (p.Thr762Met)
|
rs759466218
|
0.00002
|
NM_001243133.2(NLRP3):c.2336G>A (p.Gly779Asp)
|
rs768252357
|
0.00002
|
NM_001243133.2(NLRP3):c.2536G>C (p.Ala846Pro)
|
rs773376112
|
0.00002
|
NM_001243133.2(NLRP3):c.2732A>G (p.Asn911Ser)
|
rs577683668
|
0.00002
|
NM_001243133.2(NLRP3):c.2738C>T (p.Thr913Met)
|
rs765925466
|
0.00002
|
NM_001243133.2(NLRP3):c.2812G>A (p.Asp938Asn)
|
rs201260331
|
0.00002
|
NM_001243133.2(NLRP3):c.3080C>T (p.Thr1027Ile)
|
rs775502273
|
0.00002
|
NM_001243133.2(NLRP3):c.386A>G (p.Lys129Arg)
|
rs188623199
|
0.00002
|
NM_001243133.2(NLRP3):c.397+6C>T
|
rs201165941
|
0.00002
|
NM_001243133.2(NLRP3):c.503G>A (p.Arg168Gln)
|
rs180177464
|
0.00002
|
NM_001243133.2(NLRP3):c.865G>A (p.Val289Met)
|
rs145092553
|
0.00002
|
NM_001270508.2(TNFAIP3):c.1757C>T (p.Ala586Val)
|
rs756832433
|
0.00002
|
NM_001270508.2(TNFAIP3):c.929T>C (p.Ile310Thr)
|
rs530310566
|
0.00002
|
NM_001282225.2(ADA2):c.100C>T (p.Arg34Trp)
|
rs750955849
|
0.00002
|
NM_001282225.2(ADA2):c.1173C>G (p.His391Gln)
|
rs780182069
|
0.00002
|
NM_001282225.2(ADA2):c.1349G>C (p.Gly450Ala)
|
rs771622323
|
0.00002
|
NM_001282225.2(ADA2):c.1355C>G (p.Ser452Cys)
|
rs747458336
|
0.00002
|
NM_001282225.2(ADA2):c.205G>A (p.Ala69Thr)
|
rs374965869
|
0.00002
|
NM_001282225.2(ADA2):c.25C>T (p.Arg9Trp)
|
rs753994372
|
0.00002
|
NM_001282225.2(ADA2):c.282G>C (p.Glu94Asp)
|
rs761776202
|
0.00002
|
NM_001282225.2(ADA2):c.289C>G (p.Gln97Glu)
|
rs370709874
|
0.00002
|
NM_001282225.2(ADA2):c.316C>T (p.Pro106Ser)
|
rs747107966
|
0.00002
|
NM_001282225.2(ADA2):c.359C>T (p.Thr120Ile)
|
rs755786336
|
0.00002
|
NM_001282225.2(ADA2):c.377G>A (p.Arg126Lys)
|
rs765071162
|
0.00002
|
NM_001282225.2(ADA2):c.460C>T (p.Arg154Cys)
|
rs200153182
|
0.00002
|
NM_001282225.2(ADA2):c.587T>C (p.Ile196Thr)
|
rs538708563
|
0.00002
|
NM_001282225.2(ADA2):c.638C>T (p.Thr213Ile)
|
rs1446203580
|
0.00002
|
NM_001282225.2(ADA2):c.878A>G (p.His293Arg)
|
rs767494439
|
0.00002
|
NM_001282225.2(ADA2):c.881+6A>T
|
rs759682181
|
0.00002
|
NM_001282225.2(ADA2):c.935G>A (p.Arg312Gln)
|
rs746970158
|
0.00002
|
NM_001366385.1(CARD14):c.2641G>A (p.Gly881Arg)
|
rs548495951
|
0.00002
|
NM_001366385.1(CARD14):c.288C>T (p.Asn96=)
|
rs753859758
|
0.00002
|
NM_001366385.1(CARD14):c.366C>T (p.Ser122=)
|
rs201505693
|
0.00002
|
NM_001366385.1(CARD14):c.823C>T (p.Arg275Cys)
|
rs752302933
|
0.00002
|
NM_001367624.2(ZNF469):c.*499A>G
|
rs537339757
|
0.00002
|
NM_001367624.2(ZNF469):c.*792A>G
|
rs886052424
|
0.00002
|
NM_001367624.2(ZNF469):c.10805C>T (p.Pro3602Leu)
|
rs764764326
|
0.00002
|
NM_001367624.2(ZNF469):c.3918G>A (p.Gly1306=)
|
rs768501538
|
0.00002
|
NM_001367624.2(ZNF469):c.470G>A (p.Gly157Glu)
|
rs781096189
|
0.00002
|
NM_001367624.2(ZNF469):c.5010C>A (p.Ala1670=)
|
rs766852564
|
0.00002
|
NM_001367624.2(ZNF469):c.9019G>A (p.Asp3007Asn)
|
rs886881362
|
0.00002
|
NM_001367624.2(ZNF469):c.9320C>T (p.Pro3107Leu)
|
rs1208219883
|
0.00002
|
NM_001367624.2(ZNF469):c.9705G>A (p.Ala3235=)
|
rs757816736
|
0.00002
|
NM_001370466.1(NOD2):c.*394C>T
|
rs886052048
|
0.00002
|
NM_001370466.1(NOD2):c.-8-2171G>A
|
rs571559366
|
0.00002
|
NM_001370466.1(NOD2):c.1003del (p.Asp335fs)
|
rs766265864
|
0.00002
|
NM_001370466.1(NOD2):c.1030C>G (p.Pro344Ala)
|
rs775443143
|
0.00002
|
NM_001370466.1(NOD2):c.1087G>A (p.Asp363Asn)
|
rs147283871
|
0.00002
|
NM_001370466.1(NOD2):c.1124C>T (p.Ser375Phe)
|
rs753241960
|
0.00002
|
NM_001370466.1(NOD2):c.119C>G (p.Ser40Cys)
|
rs146149433
|
0.00002
|
NM_001370466.1(NOD2):c.1321C>T (p.Arg441Cys)
|
rs769988393
|
0.00002
|
NM_001370466.1(NOD2):c.133G>A (p.Glu45Lys)
|
rs760069458
|
0.00002
|
NM_001370466.1(NOD2):c.1340A>G (p.Gln447Arg)
|
rs367819045
|
0.00002
|
NM_001370466.1(NOD2):c.1754C>T (p.Ala585Val)
|
rs104895439
|
0.00002
|
NM_001370466.1(NOD2):c.1876G>C (p.Glu626Gln)
|
rs757895989
|
0.00002
|
NM_001370466.1(NOD2):c.1923del (p.His642fs)
|
rs758485603
|
0.00002
|
NM_001370466.1(NOD2):c.2056C>T (p.Arg686Cys)
|
rs104895440
|
0.00002
|
NM_001370466.1(NOD2):c.2298G>A (p.Val766=)
|
rs534738790
|
0.00002
|
NM_001370466.1(NOD2):c.2528G>A (p.Arg843Lys)
|
rs768889214
|
0.00002
|
NM_001370466.1(NOD2):c.2792A>G (p.Glu931Gly)
|
rs746965976
|
0.00002
|
NM_001370466.1(NOD2):c.2802-2A>G
|
rs564226539
|
0.00002
|
NM_001370466.1(NOD2):c.815G>A (p.Gly272Asp)
|
rs771184127
|
0.00002
|
NM_001375808.2(LPIN2):c.*1157T>C
|
rs1240536600
|
0.00002
|
NM_001375808.2(LPIN2):c.*2710A>G
|
rs760097342
|
0.00002
|
NM_001375808.2(LPIN2):c.*823G>A
|
rs747730329
|
0.00002
|
NM_001375808.2(LPIN2):c.106G>A (p.Val36Ile)
|
rs774019375
|
0.00002
|
NM_001375808.2(LPIN2):c.1118C>T (p.Pro373Leu)
|
rs772230305
|
0.00002
|
NM_001375808.2(LPIN2):c.1154C>T (p.Pro385Leu)
|
rs754221410
|
0.00002
|
NM_001375808.2(LPIN2):c.1247C>T (p.Ala416Val)
|
rs777239535
|
0.00002
|
NM_001375808.2(LPIN2):c.1347C>T (p.Ser449=)
|
rs773074044
|
0.00002
|
NM_001375808.2(LPIN2):c.1348G>A (p.Ala450Thr)
|
rs771486222
|
0.00002
|
NM_001375808.2(LPIN2):c.1367C>T (p.Thr456Ile)
|
rs368807055
|
0.00002
|
NM_001375808.2(LPIN2):c.1487A>G (p.His496Arg)
|
rs759229367
|
0.00002
|
NM_001375808.2(LPIN2):c.1489G>A (p.Glu497Lys)
|
rs201325845
|
0.00002
|
NM_001375808.2(LPIN2):c.1616C>G (p.Pro539Arg)
|
rs139768435
|
0.00002
|
NM_001375808.2(LPIN2):c.1814C>T (p.Ser605Leu)
|
rs781778980
|
0.00002
|
NM_001375808.2(LPIN2):c.1923C>T (p.Leu641=)
|
rs183435741
|
0.00002
|
NM_001375808.2(LPIN2):c.200T>C (p.Ile67Thr)
|
rs1385257235
|
0.00002
|
NM_001375808.2(LPIN2):c.2255A>G (p.Asn752Ser)
|
rs767620772
|
0.00002
|
NM_001375808.2(LPIN2):c.2381T>C (p.Ile794Thr)
|
rs183821298
|
0.00002
|
NM_001375808.2(LPIN2):c.2408A>T (p.Gln803Leu)
|
rs777924824
|
0.00002
|
NM_001375808.2(LPIN2):c.2420C>T (p.Ala807Val)
|
rs752533626
|
0.00002
|
NM_001375808.2(LPIN2):c.2651G>A (p.Arg884Gln)
|
rs781500548
|
0.00002
|
NM_001375808.2(LPIN2):c.367G>C (p.Val123Leu)
|
rs777511827
|
0.00002
|
NM_001375808.2(LPIN2):c.374C>T (p.Ser125Leu)
|
rs542116963
|
0.00002
|
NM_001375808.2(LPIN2):c.388A>G (p.Thr130Ala)
|
rs191101701
|
0.00002
|
NM_001375808.2(LPIN2):c.839G>A (p.Arg280Gln)
|
rs749727482
|
0.00002
|
NM_001457.4(FLNB):c.2098A>C (p.Met700Leu)
|
rs762991925
|
0.00002
|
NM_001558.4(IL10RA):c.*576G>C
|
rs773690502
|
0.00002
|
NM_001558.4(IL10RA):c.114T>A (p.Phe38Leu)
|
rs200175106
|
0.00002
|
NM_001558.4(IL10RA):c.1181_1237del (p.Asn394_Ala413delinsThr)
|
rs2058075257
|
0.00002
|
NM_001558.4(IL10RA):c.1247C>T (p.Thr416Ile)
|
rs200254237
|
0.00002
|
NM_001558.4(IL10RA):c.1321G>A (p.Val441Met)
|
rs748235778
|
0.00002
|
NM_001558.4(IL10RA):c.1369G>A (p.Ala457Thr)
|
rs764129646
|
0.00002
|
NM_001558.4(IL10RA):c.1537A>G (p.Thr513Ala)
|
rs376393999
|
0.00002
|
NM_001558.4(IL10RA):c.1718G>A (p.Ser573Asn)
|
rs1338593881
|
0.00002
|
NM_001558.4(IL10RA):c.313G>A (p.Gly105Ser)
|
rs188378450
|
0.00002
|
NM_001558.4(IL10RA):c.67+6G>T
|
rs1182312522
|
0.00002
|
NM_001558.4(IL10RA):c.72A>C (p.Thr24=)
|
rs560128585
|
0.00002
|
NM_001558.4(IL10RA):c.824C>T (p.Pro275Leu)
|
rs763599491
|
0.00002
|
NM_001611.5(ACP5):c.249C>G (p.Asp83Glu)
|
rs563929774
|
0.00002
|
NM_001611.5(ACP5):c.261+6T>C
|
rs775396112
|
0.00002
|
NM_001611.5(ACP5):c.289C>T (p.Arg97Cys)
|
rs1231519014
|
0.00002
|
NM_001611.5(ACP5):c.434A>T (p.Gln145Leu)
|
rs776392911
|
0.00002
|
NM_001611.5(ACP5):c.581C>T (p.Ala194Val)
|
rs755385110
|
0.00002
|
NM_001611.5(ACP5):c.622G>A (p.Val208Met)
|
rs535257196
|
0.00002
|
NM_001611.5(ACP5):c.715G>A (p.Gly239Ser)
|
rs762775321
|
0.00002
|
NM_001611.5(ACP5):c.839G>A (p.Arg280His)
|
rs771458690
|
0.00002
|
NM_001611.5(ACP5):c.872G>A (p.Gly291Asp)
|
rs913182619
|
0.00002
|
NM_001611.5(ACP5):c.950C>G (p.Thr317Ser)
|
rs375523195
|
0.00002
|
NM_001611.5(ACP5):c.959C>T (p.Pro320Leu)
|
rs745604493
|
0.00002
|
NM_001754.5(RUNX1):c.692T>C (p.Leu231Pro)
|
rs1408720761
|
0.00002
|
NM_001844.5(COL2A1):c.*331G>A
|
rs1227723645
|
0.00002
|
NM_001844.5(COL2A1):c.1659A>G (p.Glu553=)
|
rs756360655
|
0.00002
|
NM_001844.5(COL2A1):c.4250A>G (p.Asn1417Ser)
|
rs537186508
|
0.00002
|
NM_001844.5(COL2A1):c.446G>A (p.Arg149His)
|
rs763538232
|
0.00002
|
NM_001851.6(COL9A1):c.2228C>T (p.Ala743Val)
|
rs781246762
|
0.00002
|
NM_001851.6(COL9A1):c.2270C>T (p.Pro757Leu)
|
rs757218488
|
0.00002
|
NM_001852.4(COL9A2):c.1782G>A (p.Thr594=)
|
rs745727857
|
0.00002
|
NM_001852.4(COL9A2):c.472-10C>A
|
rs372390684
|
0.00002
|
NM_001853.4(COL9A3):c.1747C>T (p.Arg583Cys)
|
rs778892188
|
0.00002
|
NM_001854.4(COL11A1):c.1350+11G>A
|
rs747505977
|
0.00002
|
NM_001854.4(COL11A1):c.4300A>G (p.Met1434Val)
|
rs772950506
|
0.00002
|
NM_001854.4(COL11A1):c.4876C>T (p.Pro1626Ser)
|
rs377036654
|
0.00002
|
NM_001999.4(FBN2):c.1058C>T (p.Thr353Ile)
|
rs1204127908
|
0.00002
|
NM_001999.4(FBN2):c.1093A>G (p.Met365Val)
|
rs1401325502
|
0.00002
|
NM_001999.4(FBN2):c.1238A>G (p.Tyr413Cys)
|
rs576123258
|
0.00002
|
NM_001999.4(FBN2):c.1253T>C (p.Met418Thr)
|
rs769840338
|
0.00002
|
NM_001999.4(FBN2):c.1365G>T (p.Gly455=)
|
rs794726987
|
0.00002
|
NM_001999.4(FBN2):c.1412T>C (p.Val471Ala)
|
rs928205576
|
0.00002
|
NM_001999.4(FBN2):c.1685C>T (p.Ala562Val)
|
rs886059902
|
0.00002
|
NM_001999.4(FBN2):c.1897A>G (p.Ile633Val)
|
rs748419325
|
0.00002
|
NM_001999.4(FBN2):c.1961G>A (p.Arg654His)
|
rs780589159
|
0.00002
|
NM_001999.4(FBN2):c.1990A>T (p.Thr664Ser)
|
rs746408145
|
0.00002
|
NM_001999.4(FBN2):c.2036C>T (p.Ser679Phe)
|
rs760483684
|
0.00002
|
NM_001999.4(FBN2):c.2178C>T (p.Ser726=)
|
rs573282381
|
0.00002
|
NM_001999.4(FBN2):c.2620A>C (p.Asn874His)
|
rs1297639505
|
0.00002
|
NM_001999.4(FBN2):c.2638G>A (p.Gly880Ser)
|
rs555682061
|
0.00002
|
NM_001999.4(FBN2):c.2811A>G (p.Leu937=)
|
rs1751336276
|
0.00002
|
NM_001999.4(FBN2):c.2901A>G (p.Pro967=)
|
rs185991527
|
0.00002
|
NM_001999.4(FBN2):c.2902A>G (p.Asn968Asp)
|
rs774248421
|
0.00002
|
NM_001999.4(FBN2):c.2941G>A (p.Glu981Lys)
|
rs758694112
|
0.00002
|
NM_001999.4(FBN2):c.3464A>G (p.Asn1155Ser)
|
rs150224718
|
0.00002
|
NM_001999.4(FBN2):c.4489T>G (p.Phe1497Val)
|
rs150986564
|
0.00002
|
NM_001999.4(FBN2):c.5045A>C (p.Tyr1682Ser)
|
rs769474473
|
0.00002
|
NM_001999.4(FBN2):c.5551A>G (p.Ile1851Val)
|
rs779901706
|
0.00002
|
NM_001999.4(FBN2):c.6250C>T (p.Pro2084Ser)
|
rs868031420
|
0.00002
|
NM_001999.4(FBN2):c.6910G>A (p.Asp2304Asn)
|
rs368802769
|
0.00002
|
NM_001999.4(FBN2):c.6994G>A (p.Asp2332Asn)
|
rs886059894
|
0.00002
|
NM_001999.4(FBN2):c.7033A>G (p.Lys2345Glu)
|
rs1464960068
|
0.00002
|
NM_001999.4(FBN2):c.7137T>G (p.Leu2379=)
|
rs765676702
|
0.00002
|
NM_001999.4(FBN2):c.7496C>T (p.Pro2499Leu)
|
rs199583859
|
0.00002
|
NM_001999.4(FBN2):c.7511A>G (p.Tyr2504Cys)
|
rs764032053
|
0.00002
|
NM_001999.4(FBN2):c.7712-11T>A
|
rs776926809
|
0.00002
|
NM_001999.4(FBN2):c.7780A>G (p.Ser2594Gly)
|
rs1430209734
|
0.00002
|
NM_001999.4(FBN2):c.811A>C (p.Thr271Pro)
|
rs201988564
|
0.00002
|
NM_001999.4(FBN2):c.8207G>A (p.Gly2736Glu)
|
rs149180427
|
0.00002
|
NM_001999.4(FBN2):c.8497C>T (p.Arg2833Cys)
|
rs863223592
|
0.00002
|
NM_002609.4(PDGFRB):c.1810C>T (p.Arg604Cys)
|
rs541926152
|
0.00002
|
NM_002661.5(PLCG2):c.1279G>A (p.Asp427Asn)
|
rs780141402
|
0.00002
|
NM_002661.5(PLCG2):c.127G>A (p.Val43Ile)
|
rs370352962
|
0.00002
|
NM_002661.5(PLCG2):c.1343G>A (p.Arg448Gln)
|
rs772575043
|
0.00002
|
NM_002661.5(PLCG2):c.1381C>T (p.Arg461Ter)
|
rs778484571
|
0.00002
|
NM_002661.5(PLCG2):c.1557+5G>A
|
rs375703615
|
0.00002
|
NM_002661.5(PLCG2):c.157G>A (p.Ala53Thr)
|
rs532678378
|
0.00002
|
NM_002661.5(PLCG2):c.1743C>T (p.Gly581=)
|
rs772593738
|
0.00002
|
NM_002661.5(PLCG2):c.1778A>G (p.Glu593Gly)
|
rs776632754
|
0.00002
|
NM_002661.5(PLCG2):c.1896G>A (p.Thr632=)
|
rs746397807
|
0.00002
|
NM_002661.5(PLCG2):c.1921C>A (p.His641Asn)
|
rs573799583
|
0.00002
|
NM_002661.5(PLCG2):c.1943A>G (p.Tyr648Cys)
|
rs766742207
|
0.00002
|
NM_002661.5(PLCG2):c.2098C>T (p.Arg700Trp)
|
rs778773333
|
0.00002
|
NM_002661.5(PLCG2):c.2231A>G (p.Asn744Ser)
|
rs762848692
|
0.00002
|
NM_002661.5(PLCG2):c.2486C>T (p.Thr829Ile)
|
rs767593863
|
0.00002
|
NM_002661.5(PLCG2):c.2494T>C (p.Phe832Leu)
|
rs368530152
|
0.00002
|
NM_002661.5(PLCG2):c.2497G>A (p.Glu833Lys)
|
rs753762025
|
0.00002
|
NM_002661.5(PLCG2):c.2831A>G (p.Lys944Arg)
|
rs777208551
|
0.00002
|
NM_002661.5(PLCG2):c.3127A>G (p.Met1043Val)
|
rs201647862
|
0.00002
|
NM_002661.5(PLCG2):c.3341C>T (p.Ala1114Val)
|
rs935810528
|
0.00002
|
NM_002661.5(PLCG2):c.3380C>G (p.Pro1127Arg)
|
rs369259797
|
0.00002
|
NM_002661.5(PLCG2):c.3458A>G (p.Tyr1153Cys)
|
rs146175110
|
0.00002
|
NM_002661.5(PLCG2):c.3544G>A (p.Val1182Ile)
|
rs759887275
|
0.00002
|
NM_002661.5(PLCG2):c.3742A>C (p.Lys1248Gln)
|
rs867313284
|
0.00002
|
NM_002661.5(PLCG2):c.3755G>C (p.Arg1252Thr)
|
rs748492148
|
0.00002
|
NM_002661.5(PLCG2):c.3786G>C (p.Lys1262Asn)
|
rs374430619
|
0.00002
|
NM_002661.5(PLCG2):c.652C>A (p.Leu218Ile)
|
rs551539187
|
0.00002
|
NM_002661.5(PLCG2):c.933G>A (p.Met311Ile)
|
rs368534849
|
0.00002
|
NM_002834.5(PTPN11):c.1041A>G (p.Gln347=)
|
rs766297596
|
0.00002
|
NM_002834.5(PTPN11):c.1226G>C (p.Gly409Ala)
|
rs201247699
|
0.00002
|
NM_002834.5(PTPN11):c.1594G>A (p.Glu532Lys)
|
rs587778634
|
0.00002
|
NM_002834.5(PTPN11):c.455G>A (p.Arg152His)
|
rs397507521
|
0.00002
|
NM_003036.4(SKI):c.1069C>T (p.Arg357Trp)
|
rs370418830
|
0.00002
|
NM_003036.4(SKI):c.1081G>A (p.Gly361Ser)
|
rs759663808
|
0.00002
|
NM_003036.4(SKI):c.1118G>A (p.Arg373His)
|
rs768924434
|
0.00002
|
NM_003036.4(SKI):c.1264G>A (p.Ala422Thr)
|
rs760579911
|
0.00002
|
NM_003036.4(SKI):c.1268C>T (p.Pro423Leu)
|
rs752779978
|
0.00002
|
NM_003036.4(SKI):c.1336C>T (p.Leu446Phe)
|
rs1464178129
|
0.00002
|
NM_003036.4(SKI):c.1400C>T (p.Thr467Met)
|
rs752151031
|
0.00002
|
NM_003036.4(SKI):c.1480T>A (p.Ser494Thr)
|
rs781304969
|
0.00002
|
NM_003036.4(SKI):c.1708C>T (p.Arg570Cys)
|
rs377517039
|
0.00002
|
NM_003036.4(SKI):c.625C>A (p.Leu209Met)
|
rs771298442
|
0.00002
|
NM_003036.4(SKI):c.892G>T (p.Ala298Ser)
|
rs769113221
|
0.00002
|
NM_003036.4(SKI):c.938A>G (p.Tyr313Cys)
|
rs767730615
|
0.00002
|
NM_003183.6(ADAM17):c.1417C>T (p.Arg473Cys)
|
rs750951308
|
0.00002
|
NM_003183.6(ADAM17):c.1648+4C>T
|
rs368540920
|
0.00002
|
NM_003183.6(ADAM17):c.1723G>C (p.Asp575His)
|
rs767693528
|
0.00002
|
NM_003183.6(ADAM17):c.2003T>C (p.Leu668Ser)
|
rs756429621
|
0.00002
|
NM_003183.6(ADAM17):c.2188T>C (p.Phe730Leu)
|
rs372189309
|
0.00002
|
NM_003183.6(ADAM17):c.2326G>A (p.Gly776Arg)
|
rs764293730
|
0.00002
|
NM_003183.6(ADAM17):c.299A>T (p.Asp100Val)
|
rs747536329
|
0.00002
|
NM_003238.6(TGFB2):c.*2509G>T
|
rs967223935
|
0.00002
|
NM_003238.6(TGFB2):c.1087-13T>G
|
rs374394434
|
0.00002
|
NM_003238.6(TGFB2):c.1186A>C (p.Lys396Gln)
|
rs751650226
|
0.00002
|
NM_003238.6(TGFB2):c.251G>A (p.Arg84Gln)
|
rs781392453
|
0.00002
|
NM_003238.6(TGFB2):c.94T>C (p.Phe32Leu)
|
rs779872141
|
0.00002
|
NM_003239.5(TGFB3):c.529G>A (p.Asp177Asn)
|
rs755611135
|
0.00002
|
NM_003239.5(TGFB3):c.604T>G (p.Phe202Val)
|
rs1474433492
|
0.00002
|
NM_003239.5(TGFB3):c.883G>C (p.Gly295Arg)
|
rs766164843
|
0.00002
|
NM_003239.5(TGFB3):c.908A>C (p.Asp303Ala)
|
rs768423844
|
0.00002
|
NM_003242.6(TGFBR2):c.*579T>C
|
rs1259191128
|
0.00002
|
NM_003242.6(TGFBR2):c.1043G>A (p.Arg348His)
|
rs369450067
|
0.00002
|
NM_003242.6(TGFBR2):c.1063G>A (p.Ala355Thr)
|
rs104893813
|
0.00002
|
NM_003242.6(TGFBR2):c.1459A>C (p.Met487Leu)
|
rs767120937
|
0.00002
|
NM_003242.6(TGFBR2):c.277G>A (p.Glu93Lys)
|
rs766473954
|
0.00002
|
NM_003243.5(TGFBR3):c.2027T>C (p.Phe676Ser)
|
rs147485470
|
0.00002
|
NM_003977.4(AIP):c.415G>T (p.Asp139Tyr)
|
rs138312605
|
0.00002
|
NM_003977.4(AIP):c.727G>T (p.Val243Leu)
|
rs1385147597
|
0.00002
|
NM_003977.4(AIP):c.784G>A (p.Asp262Asn)
|
rs758918509
|
0.00002
|
NM_003977.4(AIP):c.908G>A (p.Ser303Asn)
|
rs1006697477
|
0.00002
|
NM_003978.5(PSTPIP1):c.1062G>A (p.Gln354=)
|
rs757597315
|
0.00002
|
NM_003978.5(PSTPIP1):c.1120-9C>G
|
rs747139033
|
0.00002
|
NM_003978.5(PSTPIP1):c.1120A>C (p.Asn374His)
|
rs757828114
|
0.00002
|
NM_003978.5(PSTPIP1):c.1183G>A (p.Gly395Ser)
|
rs142544259
|
0.00002
|
NM_003978.5(PSTPIP1):c.308G>A (p.Arg103Gln)
|
rs1250282129
|
0.00002
|
NM_003978.5(PSTPIP1):c.326G>A (p.Arg109His)
|
rs772315853
|
0.00002
|
NM_003978.5(PSTPIP1):c.516+3G>A
|
rs764658426
|
0.00002
|
NM_003978.5(PSTPIP1):c.586G>A (p.Ala196Thr)
|
rs758911910
|
0.00002
|
NM_003978.5(PSTPIP1):c.668G>A (p.Arg223Gln)
|
rs777380464
|
0.00002
|
NM_003978.5(PSTPIP1):c.682C>T (p.Arg228Cys)
|
rs781341816
|
0.00002
|
NM_003978.5(PSTPIP1):c.758G>A (p.Arg253Gln)
|
rs775811275
|
0.00002
|
NM_003978.5(PSTPIP1):c.764C>T (p.Thr255Met)
|
rs766895096
|
0.00002
|
NM_003978.5(PSTPIP1):c.968C>T (p.Ser323Leu)
|
rs765187272
|
0.00002
|
NM_003978.5(PSTPIP1):c.987G>A (p.Ala329=)
|
rs750823506
|
0.00002
|
NM_004239.4(TRIP11):c.2155G>A (p.Gly719Arg)
|
rs759108605
|
0.00002
|
NM_004273.5(CHST3):c.*1053A>T
|
rs886047166
|
0.00002
|
NM_004273.5(CHST3):c.*4210T>C
|
rs559945769
|
0.00002
|
NM_004304.5(ALK):c.1582G>A (p.Ala528Thr)
|
rs758494304
|
0.00002
|
NM_004327.4(BCR):c.2356G>A (p.Ala786Thr)
|
rs1259370853
|
0.00002
|
NM_004364.5(CEBPA):c.*5C>T
|
rs375735989
|
0.00002
|
NM_004364.5(CEBPA):c.100C>A (p.Pro34Thr)
|
rs996435066
|
0.00002
|
NM_004364.5(CEBPA):c.252C>G (p.His84Gln)
|
rs878854700
|
0.00002
|
NM_004364.5(CEBPA):c.261G>T (p.Gln87His)
|
rs868242502
|
0.00002
|
NM_004364.5(CEBPA):c.535T>C (p.Phe179Leu)
|
rs1033194020
|
0.00002
|
NM_004364.5(CEBPA):c.551C>G (p.Pro184Arg)
|
rs1457318927
|
0.00002
|
NM_004364.5(CEBPA):c.715C>G (p.Pro239Ala)
|
rs1162371435
|
0.00002
|
NM_004364.5(CEBPA):c.830C>T (p.Ser277Leu)
|
rs1269133775
|
0.00002
|
NM_004371.4(COPA):c.1406C>T (p.Ala469Val)
|
rs761705607
|
0.00002
|
NM_004371.4(COPA):c.2960+6G>T
|
rs763329682
|
0.00002
|
NM_004371.4(COPA):c.3025C>T (p.Arg1009Trp)
|
rs764570410
|
0.00002
|
NM_004371.4(COPA):c.3172C>T (p.Arg1058Cys)
|
rs772182530
|
0.00002
|
NM_004371.4(COPA):c.331G>A (p.Ala111Thr)
|
rs377473059
|
0.00002
|
NM_004371.4(COPA):c.3425G>A (p.Arg1142Gln)
|
rs768877876
|
0.00002
|
NM_004612.4(TGFBR1):c.*3482C>G
|
rs201952588
|
0.00002
|
NM_004612.4(TGFBR1):c.*4147G>A
|
rs570685518
|
0.00002
|
NM_004612.4(TGFBR1):c.199C>T (p.His67Tyr)
|
rs766157497
|
0.00002
|
NM_004612.4(TGFBR1):c.292A>T (p.Thr98Ser)
|
rs780295872
|
0.00002
|
NM_004612.4(TGFBR1):c.516A>G (p.Ser172=)
|
rs140245968
|
0.00002
|
NM_004612.4(TGFBR1):c.613A>G (p.Ile205Val)
|
rs200018073
|
0.00002
|
NM_004944.4(DNASE1L3):c.275G>A (p.Arg92Gln)
|
rs561644406
|
0.00002
|
NM_004944.4(DNASE1L3):c.448G>A (p.Val150Met)
|
rs146805633
|
0.00002
|
NM_005188.4(CBL):c.1463C>T (p.Ala488Val)
|
rs377502790
|
0.00002
|
NM_005188.4(CBL):c.1783A>G (p.Ile595Val)
|
rs775675805
|
0.00002
|
NM_005188.4(CBL):c.2153G>A (p.Arg718Gln)
|
rs144894769
|
0.00002
|
NM_005188.4(CBL):c.2350G>A (p.Val784Met)
|
rs140725852
|
0.00002
|
NM_005188.4(CBL):c.286C>T (p.Arg96Cys)
|
rs147438359
|
0.00002
|
NM_005188.4(CBL):c.664A>C (p.Met222Leu)
|
rs773611782
|
0.00002
|
NM_005188.4(CBL):c.838C>T (p.Arg280Trp)
|
rs730880432
|
0.00002
|
NM_005373.3(MPL):c.1664C>T (p.Thr555Ile)
|
rs971458513
|
0.00002
|
NM_005373.3(MPL):c.1744_1745del (p.Leu582fs)
|
rs770402221
|
0.00002
|
NM_005373.3(MPL):c.1745T>C (p.Leu582Pro)
|
rs587778513
|
0.00002
|
NM_005373.3(MPL):c.1805T>C (p.Met602Thr)
|
rs770770219
|
0.00002
|
NM_005373.3(MPL):c.292C>G (p.Gln98Glu)
|
rs752682807
|
0.00002
|
NM_005373.3(MPL):c.775G>A (p.Glu259Lys)
|
rs528834914
|
0.00002
|
NM_005529.7(HSPG2):c.2226C>T (p.Cys742=)
|
rs900156643
|
0.00002
|
NM_005529.7(HSPG2):c.3414+5G>A
|
rs764695599
|
0.00002
|
NM_005529.7(HSPG2):c.6307C>T (p.Arg2103Trp)
|
rs755167311
|
0.00002
|
NM_005902.4(SMAD3):c.*1561A>T
|
rs1275046716
|
0.00002
|
NM_005902.4(SMAD3):c.1145C>T (p.Ala382Val)
|
rs779602560
|
0.00002
|
NM_005902.4(SMAD3):c.334G>A (p.Ala112Thr)
|
rs770798158
|
0.00002
|
NM_005902.4(SMAD3):c.400+5G>T
|
rs766829176
|
0.00002
|
NM_005902.4(SMAD3):c.665A>G (p.Gln222Arg)
|
rs755924969
|
0.00002
|
NM_005902.4(SMAD3):c.730G>A (p.Val244Ile)
|
rs773543026
|
0.00002
|
NM_005902.4(SMAD3):c.999G>A (p.Lys333=)
|
rs781081744
|
0.00002
|
NM_006397.3(RNASEH2A):c.425C>T (p.Thr142Ile)
|
rs373008346
|
0.00002
|
NM_006397.3(RNASEH2A):c.439G>A (p.Glu147Lys)
|
rs769486587
|
0.00002
|
NM_006397.3(RNASEH2A):c.488C>T (p.Thr163Met)
|
rs1046057251
|
0.00002
|
NM_006397.3(RNASEH2A):c.670G>A (p.Val224Met)
|
rs775597355
|
0.00002
|
NM_006397.3(RNASEH2A):c.703C>T (p.Arg235Trp)
|
rs773112247
|
0.00002
|
NM_006397.3(RNASEH2A):c.871C>T (p.Arg291Cys)
|
rs771858022
|
0.00002
|
NM_006929.5(SKIC2):c.1145T>A (p.Leu382Gln)
|
rs764335100
|
0.00002
|
NM_006929.5(SKIC2):c.2068C>T (p.Arg690Trp)
|
rs751980634
|
0.00002
|
NM_006929.5(SKIC2):c.2401A>G (p.Met801Val)
|
rs369020218
|
0.00002
|
NM_006929.5(SKIC2):c.2446G>A (p.Glu816Lys)
|
rs746407907
|
0.00002
|
NM_006929.5(SKIC2):c.380C>T (p.Ser127Leu)
|
rs140350010
|
0.00002
|
NM_006929.5(SKIC2):c.757C>T (p.Arg253Ter)
|
rs768503878
|
0.00002
|
NM_006949.4(STXBP2):c.303G>A (p.Ala101=)
|
rs766198135
|
0.00002
|
NM_007194.4(CHEK2):c.157T>A (p.Ser53Thr)
|
rs371657037
|
0.00002
|
NM_007194.4(CHEK2):c.176C>A (p.Thr59Lys)
|
rs149991239
|
0.00002
|
NM_007194.4(CHEK2):c.755G>A (p.Ser252Asn)
|
rs587781379
|
0.00002
|
NM_007194.4(CHEK2):c.931G>A (p.Asp311Asn)
|
rs587782347
|
0.00002
|
NM_007194.4(CHEK2):c.980A>G (p.Tyr327Cys)
|
rs587780194
|
0.00002
|
NM_012275.3(IL36RN):c.248T>A (p.Val83Glu)
|
rs886054767
|
0.00002
|
NM_012275.3(IL36RN):c.29G>A (p.Arg10Gln)
|
rs752880718
|
0.00002
|
NM_012275.3(IL36RN):c.8T>C (p.Leu3Pro)
|
rs766403906
|
0.00002
|
NM_015338.6(ASXL1):c.1910C>G (p.Ala637Gly)
|
rs769053835
|
0.00002
|
NM_015474.4(SAMHD1):c.1391G>T (p.Gly464Val)
|
rs751309562
|
0.00002
|
NM_015474.4(SAMHD1):c.1445G>A (p.Ser482Asn)
|
rs373079404
|
0.00002
|
NM_015474.4(SAMHD1):c.1471G>A (p.Val491Met)
|
rs529220118
|
0.00002
|
NM_015474.4(SAMHD1):c.17C>T (p.Ser6Phe)
|
rs780617865
|
0.00002
|
NM_015474.4(SAMHD1):c.443A>G (p.Lys148Arg)
|
rs761306482
|
0.00002
|
NM_015474.4(SAMHD1):c.602T>A (p.Ile201Asn)
|
rs138603088
|
0.00002
|
NM_015474.4(SAMHD1):c.841G>A (p.Glu281Lys)
|
rs747675634
|
0.00002
|
NM_015922.3(NSDHL):c.263G>A (p.Arg88Gln)
|
rs781879080
|
0.00002
|
NM_015922.3(NSDHL):c.560A>G (p.Asn187Ser)
|
rs782332983
|
0.00002
|
NM_015922.3(NSDHL):c.947C>G (p.Pro316Arg)
|
rs782141957
|
0.00002
|
NM_017617.5(NOTCH1):c.6814C>T (p.Arg2272Cys)
|
rs752505638
|
0.00002
|
NM_021625.5(TRPV4):c.2554C>T (p.Arg852Cys)
|
rs372583866
|
0.00002
|
NM_022124.6(CDH23):c.2729A>G (p.Tyr910Cys)
|
rs557257494
|
0.00002
|
NM_022124.6(CDH23):c.3296G>A (p.Arg1099Gln)
|
rs1295355040
|
0.00002
|
NM_022124.6(CDH23):c.446C>T (p.Thr149Met)
|
rs370947344
|
0.00002
|
NM_022124.6(CDH23):c.5117G>A (p.Arg1706His)
|
rs376614796
|
0.00002
|
NM_022124.6(CDH23):c.6004C>G (p.Leu2002Val)
|
rs756459547
|
0.00002
|
NM_022124.6(CDH23):c.6080T>C (p.Ile2027Thr)
|
rs185819621
|
0.00002
|
NM_022124.6(CDH23):c.7177G>A (p.Val2393Met)
|
rs775436759
|
0.00002
|
NM_022124.6(CDH23):c.752C>T (p.Pro251Leu)
|
rs746961144
|
0.00002
|
NM_022124.6(CDH23):c.9970G>A (p.Glu3324Lys)
|
rs763119683
|
0.00002
|
NM_022168.4(IFIH1):c.1357G>C (p.Val453Leu)
|
rs367921237
|
0.00002
|
NM_022168.4(IFIH1):c.1382A>G (p.Tyr461Cys)
|
rs746897113
|
0.00002
|
NM_022168.4(IFIH1):c.1701G>A (p.Met567Ile)
|
rs765060493
|
0.00002
|
NM_022168.4(IFIH1):c.1852C>T (p.Arg618Ter)
|
rs745937740
|
0.00002
|
NM_022168.4(IFIH1):c.2027T>A (p.Leu676His)
|
rs745474856
|
0.00002
|
NM_022168.4(IFIH1):c.2191G>T (p.Ala731Ser)
|
rs774309855
|
0.00002
|
NM_022168.4(IFIH1):c.2305-13A>G
|
rs758206522
|
0.00002
|
NM_022168.4(IFIH1):c.2773A>G (p.Lys925Glu)
|
rs1165752336
|
0.00002
|
NM_022168.4(IFIH1):c.2920C>T (p.His974Tyr)
|
rs748198655
|
0.00002
|
NM_022168.4(IFIH1):c.413G>A (p.Cys138Tyr)
|
rs774361518
|
0.00002
|
NM_022168.4(IFIH1):c.736G>T (p.Glu246Ter)
|
rs373854773
|
0.00002
|
NM_023110.3(FGFR1):c.1139A>G (p.Tyr380Cys)
|
rs777103792
|
0.00002
|
NM_023110.3(FGFR1):c.1342C>T (p.Arg448Trp)
|
rs749903780
|
0.00002
|
NM_023110.3(FGFR1):c.2267G>A (p.Arg756His)
|
rs374473310
|
0.00002
|
NM_023110.3(FGFR1):c.2426G>A (p.Arg809Gln)
|
rs771680156
|
0.00002
|
NM_023110.3(FGFR1):c.2465G>A (p.Arg822His)
|
rs758677681
|
0.00002
|
NM_023110.3(FGFR1):c.83C>T (p.Pro28Leu)
|
rs145434725
|
0.00002
|
NM_024408.4(NOTCH2):c.1015A>G (p.Ile339Val)
|
rs1309062791
|
0.00002
|
NM_024408.4(NOTCH2):c.1194A>G (p.Gln398=)
|
rs782486742
|
0.00002
|
NM_024408.4(NOTCH2):c.2501T>G (p.Leu834Trp)
|
rs376526633
|
0.00002
|
NM_024408.4(NOTCH2):c.2606G>A (p.Arg869Gln)
|
rs782269360
|
0.00002
|
NM_024408.4(NOTCH2):c.2636C>T (p.Ser879Phe)
|
rs1004494435
|
0.00002
|
NM_024408.4(NOTCH2):c.3046G>A (p.Gly1016Ser)
|
rs782191722
|
0.00002
|
NM_024408.4(NOTCH2):c.3298G>A (p.Val1100Met)
|
rs782536553
|
0.00002
|
NM_024408.4(NOTCH2):c.3461C>T (p.Ala1154Val)
|
rs367562640
|
0.00002
|
NM_024408.4(NOTCH2):c.4093C>T (p.Arg1365Cys)
|
rs987757552
|
0.00002
|
NM_024408.4(NOTCH2):c.4303C>T (p.Arg1435Trp)
|
rs777091426
|
0.00002
|
NM_024408.4(NOTCH2):c.4454A>G (p.Asn1485Ser)
|
rs771682706
|
0.00002
|
NM_024408.4(NOTCH2):c.4639C>G (p.Leu1547Val)
|
rs1241715192
|
0.00002
|
NM_024408.4(NOTCH2):c.5156G>A (p.Arg1719Gln)
|
rs587737953
|
0.00002
|
NM_024408.4(NOTCH2):c.5731C>T (p.Arg1911Cys)
|
rs748716440
|
0.00002
|
NM_024408.4(NOTCH2):c.6004A>G (p.Asn2002Asp)
|
rs761367735
|
0.00002
|
NM_024408.4(NOTCH2):c.6008G>A (p.Arg2003Gln)
|
rs142978073
|
0.00002
|
NM_024408.4(NOTCH2):c.6178C>T (p.Arg2060Cys)
|
rs746551843
|
0.00002
|
NM_024408.4(NOTCH2):c.6331A>G (p.Thr2111Ala)
|
rs752915446
|
0.00002
|
NM_024408.4(NOTCH2):c.6481G>A (p.Val2161Ile)
|
rs1470762283
|
0.00002
|
NM_024408.4(NOTCH2):c.6878A>C (p.His2293Pro)
|
rs780904023
|
0.00002
|
NM_024408.4(NOTCH2):c.6898C>T (p.Pro2300Ser)
|
rs765911576
|
0.00002
|
NM_024408.4(NOTCH2):c.85C>T (p.Arg29Ter)
|
rs1174406807
|
0.00002
|
NM_024529.5(CDC73):c.*1789G>A
|
rs1323646186
|
0.00002
|
NM_024529.5(CDC73):c.*3342G>A
|
rs1174982740
|
0.00002
|
NM_024529.5(CDC73):c.1135G>A (p.Asp379Asn)
|
rs971586985
|
0.00002
|
NM_024529.5(CDC73):c.201G>A (p.Val67=)
|
rs752298916
|
0.00002
|
NM_024529.5(CDC73):c.450A>G (p.Lys150=)
|
rs779144943
|
0.00002
|
NM_024529.5(CDC73):c.844A>G (p.Thr282Ala)
|
rs201236330
|
0.00002
|
NM_024570.4(RNASEH2B):c.360C>T (p.Asn120=)
|
rs759273327
|
0.00002
|
NM_024570.4(RNASEH2B):c.511-4A>G
|
rs1252856173
|
0.00002
|
NM_024570.4(RNASEH2B):c.617A>C (p.Glu206Ala)
|
rs371740577
|
0.00002
|
NM_024570.4(RNASEH2B):c.905G>A (p.Gly302Glu)
|
rs1462322143
|
0.00002
|
NM_024570.4(RNASEH2B):c.916A>T (p.Lys306Ter)
|
rs774043353
|
0.00002
|
NM_024570.4(RNASEH2B):c.928G>A (p.Gly310Arg)
|
rs771560732
|
0.00002
|
NM_024675.4(PALB2):c.2755G>A (p.Val919Ile)
|
rs775193384
|
0.00002
|
NM_024753.5(TTC21B):c.3856A>G (p.Ile1286Val)
|
rs768117655
|
0.00002
|
NM_030777.4(SLC2A10):c.-55G>T
|
rs933340480
|
0.00002
|
NM_030777.4(SLC2A10):c.1586G>A (p.Gly529Asp)
|
rs750292263
|
0.00002
|
NM_030777.4(SLC2A10):c.1601G>A (p.Arg534His)
|
rs746480018
|
0.00002
|
NM_030777.4(SLC2A10):c.1616C>T (p.Ala539Val)
|
rs140312420
|
0.00002
|
NM_030777.4(SLC2A10):c.416A>G (p.Tyr139Cys)
|
rs139858464
|
0.00002
|
NM_030777.4(SLC2A10):c.530T>C (p.Leu177Pro)
|
rs777214287
|
0.00002
|
NM_030777.4(SLC2A10):c.562G>C (p.Gly188Arg)
|
rs374246708
|
0.00002
|
NM_030777.4(SLC2A10):c.643C>T (p.Arg215Trp)
|
rs200565780
|
0.00002
|
NM_030777.4(SLC2A10):c.692G>A (p.Arg231Gln)
|
rs771028960
|
0.00002
|
NM_030777.4(SLC2A10):c.859G>A (p.Ala287Thr)
|
rs780058786
|
0.00002
|
NM_030777.4(SLC2A10):c.877C>T (p.Arg293Cys)
|
rs539783215
|
0.00002
|
NM_030777.4(SLC2A10):c.887G>A (p.Arg296His)
|
rs558025597
|
0.00002
|
NM_031229.4(RBCK1):c.1117A>T (p.Thr373Ser)
|
rs531364402
|
0.00002
|
NM_031229.4(RBCK1):c.175G>C (p.Val59Leu)
|
rs751582683
|
0.00002
|
NM_031229.4(RBCK1):c.448C>T (p.Arg150Trp)
|
rs778995926
|
0.00002
|
NM_031229.4(RBCK1):c.547C>G (p.Arg183Gly)
|
rs747821371
|
0.00002
|
NM_031229.4(RBCK1):c.674A>G (p.Gln225Arg)
|
rs905456806
|
0.00002
|
NM_032193.3(RNASEH2C):c.-139G>T
|
rs928515689
|
0.00002
|
NM_032193.4(RNASEH2C):c.*1504G>A
|
rs886048489
|
0.00002
|
NM_032193.4(RNASEH2C):c.*1778C>G
|
rs886048485
|
0.00002
|
NM_032193.4(RNASEH2C):c.*223G>A
|
rs886048497
|
0.00002
|
NM_032193.4(RNASEH2C):c.*940A>G
|
rs767097041
|
0.00002
|
NM_032193.4(RNASEH2C):c.140T>G (p.Phe47Cys)
|
rs1453336065
|
0.00002
|
NM_032193.4(RNASEH2C):c.169G>A (p.Glu57Lys)
|
rs769127379
|
0.00002
|
NM_032193.4(RNASEH2C):c.348+6C>T
|
rs779293116
|
0.00002
|
NM_032638.5(GATA2):c.176A>G (p.Tyr59Cys)
|
rs140047487
|
0.00002
|
NM_033360.4(KRAS):c.389C>T (p.Ala130Val)
|
rs730880473
|
0.00002
|
NM_033629.6(TREX1):c.286G>A (p.Gly96Arg)
|
rs921270646
|
0.00002
|
NM_033629.6(TREX1):c.383G>A (p.Arg128His)
|
rs751124579
|
0.00002
|
NM_033629.6(TREX1):c.393C>G (p.Phe131Leu)
|
rs749667732
|
0.00002
|
NM_033629.6(TREX1):c.394C>T (p.Pro132Ser)
|
rs200510205
|
0.00002
|
NM_033629.6(TREX1):c.553C>T (p.Arg185Cys)
|
rs145721839
|
0.00002
|
NM_033629.6(TREX1):c.628T>C (p.Trp210Arg)
|
rs770775387
|
0.00002
|
NM_033629.6(TREX1):c.667G>A (p.Ala223Thr)
|
rs766785968
|
0.00002
|
NM_033629.6(TREX1):c.869C>T (p.Pro290Leu)
|
rs148833270
|
0.00002
|
NM_054027.6(ANKH):c.*1490T>C
|
rs776755741
|
0.00002
|
NM_054027.6(ANKH):c.*1772C>T
|
rs775380495
|
0.00002
|
NM_054027.6(ANKH):c.*3567G>C
|
rs144789671
|
0.00002
|
NM_054027.6(ANKH):c.*4137G>C
|
rs886060072
|
0.00002
|
NM_054027.6(ANKH):c.*5579G>A
|
rs1200080153
|
0.00002
|
NM_054027.6(ANKH):c.*6006A>T
|
rs1373491504
|
0.00002
|
NM_054027.6(ANKH):c.*781T>A
|
rs886060086
|
0.00002
|
NM_054027.6(ANKH):c.600C>T (p.Gly200=)
|
rs140150501
|
0.00002
|
NM_058172.6(ANTXR2):c.*1397G>A
|
rs117533033
|
0.00002
|
NM_058172.6(ANTXR2):c.*1476G>A
|
rs572394273
|
0.00002
|
NM_058172.6(ANTXR2):c.*1501G>T
|
rs1470947336
|
0.00002
|
NM_058172.6(ANTXR2):c.*3533G>A
|
rs746570017
|
0.00002
|
NM_058172.6(ANTXR2):c.*4194C>T
|
rs1005734569
|
0.00002
|
NM_058172.6(ANTXR2):c.*5527A>G
|
rs777700684
|
0.00002
|
NM_058172.6(ANTXR2):c.1392C>A (p.Asp464Glu)
|
rs770869771
|
0.00002
|
NM_058172.6(ANTXR2):c.252G>A (p.Val84=)
|
rs886059657
|
0.00002
|
NM_080425.4(GNAS):c.1275C>T (p.Phe425=)
|
rs867492591
|
0.00002
|
NM_080628.3(TLDC2):c.*18-801C>T
|
rs1030352932
|
0.00002
|
NM_080680.3(COL11A2):c.3540C>T (p.Gly1180=)
|
rs759890035
|
0.00002
|
NM_080680.3(COL11A2):c.4751-9A>G
|
rs555680585
|
0.00002
|
NM_130384.3(ATRIP):c.*682C>T
|
rs886058623
|
0.00002
|
NM_144687.4(NLRP12):c.*108T>C
|
rs1255385830
|
0.00002
|
NM_144687.4(NLRP12):c.1231T>A (p.Cys411Ser)
|
rs1369819341
|
0.00002
|
NM_144687.4(NLRP12):c.1330C>G (p.Gln444Glu)
|
rs371528857
|
0.00002
|
NM_144687.4(NLRP12):c.13G>A (p.Ala5Thr)
|
rs374037208
|
0.00002
|
NM_144687.4(NLRP12):c.1445G>A (p.Arg482Gln)
|
rs1185856650
|
0.00002
|
NM_144687.4(NLRP12):c.1705G>A (p.Glu569Lys)
|
rs753099958
|
0.00002
|
NM_144687.4(NLRP12):c.1754C>T (p.Pro585Leu)
|
rs569411184
|
0.00002
|
NM_144687.4(NLRP12):c.1807G>T (p.Gly603Cys)
|
rs756202611
|
0.00002
|
NM_144687.4(NLRP12):c.2002G>A (p.Ala668Thr)
|
rs1307240172
|
0.00002
|
NM_144687.4(NLRP12):c.2013C>A (p.Ser671Arg)
|
rs781329641
|
0.00002
|
NM_144687.4(NLRP12):c.2055C>G (p.His685Gln)
|
rs374387350
|
0.00002
|
NM_144687.4(NLRP12):c.2057C>G (p.Thr686Arg)
|
rs756690369
|
0.00002
|
NM_144687.4(NLRP12):c.2120C>T (p.Ala707Val)
|
rs202169378
|
0.00002
|
NM_144687.4(NLRP12):c.2363T>G (p.Met788Arg)
|
rs752414417
|
0.00002
|
NM_144687.4(NLRP12):c.2414+5G>A
|
rs775788855
|
0.00002
|
NM_144687.4(NLRP12):c.2458G>A (p.Ala820Thr)
|
rs758809508
|
0.00002
|
NM_144687.4(NLRP12):c.2499C>A (p.Asp833Glu)
|
rs139956424
|
0.00002
|
NM_144687.4(NLRP12):c.2574A>G (p.Leu858=)
|
rs750552324
|
0.00002
|
NM_144687.4(NLRP12):c.25G>A (p.Gly9Ser)
|
rs762604819
|
0.00002
|
NM_144687.4(NLRP12):c.2720G>T (p.Gly907Val)
|
rs200511925
|
0.00002
|
NM_144687.4(NLRP12):c.2756+6T>C
|
rs199476245
|
0.00002
|
NM_144687.4(NLRP12):c.2770C>T (p.Arg924Trp)
|
rs761231693
|
0.00002
|
NM_144687.4(NLRP12):c.2800T>C (p.Ser934Pro)
|
rs1379257772
|
0.00002
|
NM_144687.4(NLRP12):c.2819A>G (p.Asn940Ser)
|
rs753465728
|
0.00002
|
NM_144687.4(NLRP12):c.2869G>A (p.Gly957Ser)
|
rs149951954
|
0.00002
|
NM_144687.4(NLRP12):c.2932G>C (p.Asp978His)
|
rs560028610
|
0.00002
|
NM_144687.4(NLRP12):c.3109A>G (p.Met1037Val)
|
rs754830337
|
0.00002
|
NM_144687.4(NLRP12):c.395A>G (p.Tyr132Cys)
|
rs781619673
|
0.00002
|
NM_144687.4(NLRP12):c.520C>G (p.Gln174Glu)
|
rs770426590
|
0.00002
|
NM_144687.4(NLRP12):c.538G>A (p.Gly180Ser)
|
rs563974183
|
0.00002
|
NM_144687.4(NLRP12):c.550G>A (p.Ala184Thr)
|
rs766308091
|
0.00002
|
NM_144687.4(NLRP12):c.632G>A (p.Arg211His)
|
rs374108426
|
0.00002
|
NM_144687.4(NLRP12):c.665G>A (p.Gly222Asp)
|
rs371385297
|
0.00002
|
NM_144687.4(NLRP12):c.78G>A (p.Lys26=)
|
rs148263031
|
0.00002
|
NM_144687.4(NLRP12):c.830C>T (p.Ala277Val)
|
rs1170408810
|
0.00002
|
NM_144687.4(NLRP12):c.859G>A (p.Glu287Lys)
|
rs752992130
|
0.00002
|
NM_144687.4(NLRP12):c.883_884del (p.Gly295fs)
|
rs774533869
|
0.00002
|
NM_148919.4(PSMB8):c.100A>G (p.Ser34Gly)
|
rs558277593
|
0.00002
|
NM_148919.4(PSMB8):c.137G>A (p.Arg46Gln)
|
rs758313787
|
0.00002
|
NM_148919.4(PSMB8):c.154G>A (p.Glu52Lys)
|
rs779815259
|
0.00002
|
NM_148919.4(PSMB8):c.193G>A (p.Val65Ile)
|
rs940695600
|
0.00002
|
NM_148919.4(PSMB8):c.304C>T (p.Arg102Trp)
|
rs1402857650
|
0.00002
|
NM_148919.4(PSMB8):c.434G>A (p.Arg145His)
|
rs1222974201
|
0.00002
|
NM_148919.4(PSMB8):c.556G>A (p.Val186Met)
|
rs78945358
|
0.00002
|
NM_148919.4(PSMB8):c.600G>A (p.Thr200=)
|
rs777265725
|
0.00002
|
NM_148919.4(PSMB8):c.733G>A (p.Val245Ile)
|
rs746897143
|
0.00002
|
NM_173841.3(IL1RN):c.20A>G (p.Tyr7Cys)
|
rs137932510
|
0.00002
|
NM_173841.3(IL1RN):c.26A>T (p.Glu9Val)
|
rs749244809
|
0.00002
|
NM_173842.3(IL1RN):c.*303C>G
|
rs766555019
|
0.00002
|
NM_173842.3(IL1RN):c.259G>A (p.Gly87Arg)
|
rs748958762
|
0.00002
|
NM_173842.3(IL1RN):c.267G>C (p.Lys89Asn)
|
rs138332136
|
0.00002
|
NM_173842.3(IL1RN):c.364C>T (p.Arg122Cys)
|
rs114004306
|
0.00002
|
NM_173842.3(IL1RN):c.449T>C (p.Met150Thr)
|
rs781018527
|
0.00002
|
NM_173842.3(IL1RN):c.63A>G (p.Ser21=)
|
rs763872895
|
0.00002
|
NM_198282.4(STING1):c.1001G>A (p.Arg334Gln)
|
rs758939417
|
0.00002
|
NM_198282.4(STING1):c.1006G>A (p.Glu336Lys)
|
rs1268179693
|
0.00002
|
NM_198282.4(STING1):c.1049C>T (p.Ala350Val)
|
rs143322684
|
0.00002
|
NM_198282.4(STING1):c.1127C>T (p.Thr376Met)
|
rs370381358
|
0.00002
|
NM_198282.4(STING1):c.134G>A (p.Arg45Gln)
|
rs762935025
|
0.00002
|
NM_198282.4(STING1):c.353C>T (p.Thr118Ile)
|
rs1358836126
|
0.00002
|
NM_198282.4(STING1):c.589C>T (p.Arg197Trp)
|
rs763892914
|
0.00002
|
NM_198282.4(STING1):c.637A>C (p.Ser213Arg)
|
rs1342489613
|
0.00002
|
NM_198282.4(STING1):c.668A>G (p.Asp223Gly)
|
rs746097569
|
0.00002
|
NM_198282.4(STING1):c.928C>T (p.Arg310Cys)
|
rs763335050
|
0.00002
|
NM_199242.3(UNC13D):c.261+9G>A
|
rs754902598
|
0.00002
|
NM_199242.3(UNC13D):c.3122G>A (p.Arg1041His)
|
rs374478310
|
0.00002
|
NM_207122.2(EXT2):c.-26G>T
|
rs369437823
|
0.00002
|
NM_207122.2(EXT2):c.1043A>G (p.Tyr348Cys)
|
rs758785296
|
0.00002
|
NM_207122.2(EXT2):c.1079+5G>A
|
rs773025398
|
0.00002
|
NM_207122.2(EXT2):c.1109T>C (p.Met370Thr)
|
rs199711832
|
0.00002
|
NM_207122.2(EXT2):c.11C>T (p.Ser4Leu)
|
rs527624522
|
0.00002
|
NM_207122.2(EXT2):c.1315A>G (p.Ser439Gly)
|
rs760086935
|
0.00002
|
NM_207122.2(EXT2):c.1393C>T (p.Arg465Ter)
|
rs772690312
|
0.00002
|
NM_207122.2(EXT2):c.1935G>A (p.Lys645=)
|
rs752606551
|
0.00002
|
NM_207122.2(EXT2):c.343G>A (p.Val115Met)
|
rs1470293557
|
0.00002
|
NM_207122.2(EXT2):c.497G>A (p.Arg166His)
|
rs772821141
|
0.00002
|
NM_207122.2(EXT2):c.832G>A (p.Glu278Lys)
|
rs117329700
|
0.00002
|
NM_207122.2(EXT2):c.890G>A (p.Arg297His)
|
rs773482624
|
0.00002
|
NM_212482.4(FN1):c.592G>A (p.Gly198Arg)
|
rs561607931
|
0.00002
|
NM_212482.4(FN1):c.7402G>A (p.Val2468Ile)
|
rs149294265
|
0.00002
|
NM_212482.4(FN1):c.790G>A (p.Gly264Ser)
|
rs950443871
|
0.00002
|
NM_212482.4(FN1):c.907C>T (p.Pro303Ser)
|
rs750138959
|
0.00002
|
NM_000038.6(APC):c.2114G>A (p.Ser705Asn)
|
rs752874220
|
0.00001
|
NM_000038.6(APC):c.212G>A (p.Arg71His)
|
rs750503329
|
0.00001
|
NM_000038.6(APC):c.2474A>G (p.Tyr825Cys)
|
rs186641437
|
0.00001
|
NM_000038.6(APC):c.3515A>T (p.His1172Leu)
|
rs1024630299
|
0.00001
|
NM_000038.6(APC):c.4430A>G (p.Gln1477Arg)
|
rs1479009365
|
0.00001
|
NM_000038.6(APC):c.4963A>G (p.Thr1655Ala)
|
rs759441332
|
0.00001
|
NM_000038.6(APC):c.5105G>A (p.Gly1702Glu)
|
rs769273526
|
0.00001
|
NM_000038.6(APC):c.5282A>C (p.Asn1761Thr)
|
rs752038930
|
0.00001
|
NM_000038.6(APC):c.5615T>A (p.Val1872Asp)
|
rs748389037
|
0.00001
|
NM_000038.6(APC):c.5627G>T (p.Arg1876Met)
|
rs773201570
|
0.00001
|
NM_000038.6(APC):c.6736G>A (p.Val2246Ile)
|
rs1055180096
|
0.00001
|
NM_000038.6(APC):c.7136C>G (p.Thr2379Ser)
|
rs767691072
|
0.00001
|
NM_000038.6(APC):c.8276G>A (p.Arg2759His)
|
rs538289470
|
0.00001
|
NM_000038.6(APC):c.8282C>T (p.Pro2761Leu)
|
rs757874563
|
0.00001
|
NM_000047.3(ARSL):c.1419A>G (p.Thr473=)
|
rs755373707
|
0.00001
|
NM_000047.3(ARSL):c.1629G>A (p.Gln543=)
|
rs753971115
|
0.00001
|
NM_000059.4(BRCA2):c.3517A>T (p.Ile1173Phe)
|
rs431825308
|
0.00001
|
NM_000059.4(BRCA2):c.8117A>G (p.Asn2706Ser)
|
rs80359055
|
0.00001
|
NM_000059.4(BRCA2):c.8350C>T (p.Arg2784Trp)
|
rs80359075
|
0.00001
|
NM_000081.4(LYST):c.10622A>G (p.Tyr3541Cys)
|
rs1369698547
|
0.00001
|
NM_000081.4(LYST):c.1848C>T (p.Asn616=)
|
rs376259384
|
0.00001
|
NM_000081.4(LYST):c.3250G>A (p.Ala1084Thr)
|
rs376496670
|
0.00001
|
NM_000081.4(LYST):c.4135A>G (p.Ile1379Val)
|
rs1178179147
|
0.00001
|
NM_000081.4(LYST):c.4266C>A (p.Ala1422=)
|
rs764207947
|
0.00001
|
NM_000081.4(LYST):c.6216A>G (p.Val2072=)
|
rs371248013
|
0.00001
|
NM_000081.4(LYST):c.6931C>T (p.Leu2311=)
|
rs764843145
|
0.00001
|
NM_000081.4(LYST):c.9223G>A (p.Val3075Ile)
|
rs764879928
|
0.00001
|
NM_000089.4(COL1A2):c.1198-12A>G
|
rs1292046736
|
0.00001
|
NM_000089.4(COL1A2):c.1318C>T (p.Arg440Cys)
|
rs754825427
|
0.00001
|
NM_000090.4(COL3A1):c.3526-10C>T
|
rs376171095
|
0.00001
|
NM_000093.5(COL5A1):c.3595G>A (p.Glu1199Lys)
|
rs867211079
|
0.00001
|
NM_000093.5(COL5A1):c.5217C>A (p.His1739Gln)
|
rs869025374
|
0.00001
|
NM_000095.3(COMP):c.1331C>G (p.Ser444Cys)
|
rs747106682
|
0.00001
|
NM_000112.4(SLC26A2):c.1085G>T (p.Gly362Val)
|
rs1215069127
|
0.00001
|
NM_000127.3(EXT1):c.*182A>C
|
rs949394800
|
0.00001
|
NM_000127.3(EXT1):c.-717G>C
|
rs1381790284
|
0.00001
|
NM_000127.3(EXT1):c.110G>A (p.Arg37Lys)
|
rs757411850
|
0.00001
|
NM_000127.3(EXT1):c.1266T>A (p.Ile422=)
|
rs899395870
|
0.00001
|
NM_000127.3(EXT1):c.1279C>G (p.Leu427Val)
|
rs773539946
|
0.00001
|
NM_000127.3(EXT1):c.1403A>G (p.Tyr468Cys)
|
rs1375505148
|
0.00001
|
NM_000127.3(EXT1):c.1406A>G (p.Tyr469Cys)
|
rs750748090
|
0.00001
|
NM_000127.3(EXT1):c.1504G>A (p.Val502Met)
|
rs778048374
|
0.00001
|
NM_000127.3(EXT1):c.1536+6C>T
|
rs765347315
|
0.00001
|
NM_000127.3(EXT1):c.1634T>G (p.Val545Gly)
|
rs1368926188
|
0.00001
|
NM_000127.3(EXT1):c.1663A>G (p.Asn555Asp)
|
rs777698557
|
0.00001
|
NM_000127.3(EXT1):c.1712C>T (p.Ser571Leu)
|
rs1305323658
|
0.00001
|
NM_000127.3(EXT1):c.1748A>G (p.Gln583Arg)
|
rs1309175788
|
0.00001
|
NM_000127.3(EXT1):c.1765A>G (p.Ile589Val)
|
rs1823254644
|
0.00001
|
NM_000127.3(EXT1):c.1813C>T (p.Arg605Trp)
|
rs146967463
|
0.00001
|
NM_000127.3(EXT1):c.1843G>A (p.Asp615Asn)
|
rs1252579899
|
0.00001
|
NM_000127.3(EXT1):c.1873A>G (p.Ile625Val)
|
rs773393953
|
0.00001
|
NM_000127.3(EXT1):c.2159C>G (p.Ser720Cys)
|
rs1373349863
|
0.00001
|
NM_000127.3(EXT1):c.2195A>G (p.Gln732Arg)
|
rs1188494289
|
0.00001
|
NM_000127.3(EXT1):c.252G>C (p.Gln84His)
|
rs376231630
|
0.00001
|
NM_000127.3(EXT1):c.296G>T (p.Arg99Leu)
|
rs778849200
|
0.00001
|
NM_000127.3(EXT1):c.302A>G (p.Glu101Gly)
|
rs1384997375
|
0.00001
|
NM_000127.3(EXT1):c.344A>G (p.Lys115Arg)
|
rs146127753
|
0.00001
|
NM_000127.3(EXT1):c.359C>T (p.Pro120Leu)
|
rs752226935
|
0.00001
|
NM_000127.3(EXT1):c.368A>G (p.Lys123Arg)
|
rs773394301
|
0.00001
|
NM_000127.3(EXT1):c.419G>T (p.Gly140Val)
|
rs769557488
|
0.00001
|
NM_000127.3(EXT1):c.590C>G (p.Ser197Cys)
|
rs776678803
|
0.00001
|
NM_000127.3(EXT1):c.686A>G (p.Asn229Ser)
|
rs753036738
|
0.00001
|
NM_000127.3(EXT1):c.725C>T (p.Pro242Leu)
|
rs906230630
|
0.00001
|
NM_000127.3(EXT1):c.973C>T (p.Arg325Trp)
|
rs1394508840
|
0.00001
|
NM_000138.4(FBN1):c.-319G>T
|
rs886051256
|
0.00001
|
NM_000138.5(FBN1):c.*202_*203del
|
rs766125141
|
0.00001
|
NM_000138.5(FBN1):c.*252G>A
|
rs1407193739
|
0.00001
|
NM_000138.5(FBN1):c.*968G>A
|
rs999275120
|
0.00001
|
NM_000138.5(FBN1):c.-7C>T
|
rs752581747
|
0.00001
|
NM_000138.5(FBN1):c.1030C>T (p.Arg344Cys)
|
rs752010116
|
0.00001
|
NM_000138.5(FBN1):c.1031G>A (p.Arg344His)
|
rs200388305
|
0.00001
|
NM_000138.5(FBN1):c.1091G>A (p.Arg364Gln)
|
rs536588176
|
0.00001
|
NM_000138.5(FBN1):c.1108G>T (p.Val370Phe)
|
rs1191931914
|
0.00001
|
NM_000138.5(FBN1):c.1117G>A (p.Ala373Thr)
|
rs766162654
|
0.00001
|
NM_000138.5(FBN1):c.1118C>T (p.Ala373Val)
|
rs762598979
|
0.00001
|
NM_000138.5(FBN1):c.1146C>T (p.Thr382=)
|
rs889875676
|
0.00001
|
NM_000138.5(FBN1):c.1150G>A (p.Asp384Asn)
|
rs1405173549
|
0.00001
|
NM_000138.5(FBN1):c.1169C>T (p.Ser390Phe)
|
rs746385384
|
0.00001
|
NM_000138.5(FBN1):c.1174C>G (p.Pro392Ala)
|
rs749467972
|
0.00001
|
NM_000138.5(FBN1):c.1177A>G (p.Met393Val)
|
rs983129867
|
0.00001
|
NM_000138.5(FBN1):c.1216C>G (p.Leu406Val)
|
rs1257581073
|
0.00001
|
NM_000138.5(FBN1):c.1289C>T (p.Pro430Leu)
|
rs771134832
|
0.00001
|
NM_000138.5(FBN1):c.13C>T (p.Arg5Cys)
|
rs759323371
|
0.00001
|
NM_000138.5(FBN1):c.1417C>T (p.Arg473Trp)
|
rs767068276
|
0.00001
|
NM_000138.5(FBN1):c.1454G>T (p.Arg485Leu)
|
rs371985966
|
0.00001
|
NM_000138.5(FBN1):c.1460A>C (p.Glu487Ala)
|
rs763431921
|
0.00001
|
NM_000138.5(FBN1):c.1471G>A (p.Val491Ile)
|
rs373751659
|
0.00001
|
NM_000138.5(FBN1):c.149A>T (p.His50Leu)
|
rs886039132
|
0.00001
|
NM_000138.5(FBN1):c.1529C>T (p.Ser510Leu)
|
rs776942896
|
0.00001
|
NM_000138.5(FBN1):c.1560G>C (p.Gln520His)
|
rs143253318
|
0.00001
|
NM_000138.5(FBN1):c.1586G>A (p.Arg529Gln)
|
rs1441536824
|
0.00001
|
NM_000138.5(FBN1):c.1603T>A (p.Leu535Ile)
|
rs1485432119
|
0.00001
|
NM_000138.5(FBN1):c.1604T>C (p.Leu535Ser)
|
rs754364317
|
0.00001
|
NM_000138.5(FBN1):c.1615C>T (p.Arg539Trp)
|
rs752999845
|
0.00001
|
NM_000138.5(FBN1):c.1634G>A (p.Arg545His)
|
rs193922179
|
0.00001
|
NM_000138.5(FBN1):c.1639A>G (p.Ile547Val)
|
rs759813328
|
0.00001
|
NM_000138.5(FBN1):c.164+6G>A
|
rs760968439
|
0.00001
|
NM_000138.5(FBN1):c.1640T>C (p.Ile547Thr)
|
rs112269822
|
0.00001
|
NM_000138.5(FBN1):c.1676C>T (p.Ala559Val)
|
rs141551765
|
0.00001
|
NM_000138.5(FBN1):c.1686T>G (p.His562Gln)
|
rs1220088131
|
0.00001
|
NM_000138.5(FBN1):c.181T>C (p.Ser61Pro)
|
rs1166519673
|
0.00001
|
NM_000138.5(FBN1):c.1825C>T (p.Arg609Cys)
|
rs772574901
|
0.00001
|
NM_000138.5(FBN1):c.1826G>A (p.Arg609His)
|
rs770393471
|
0.00001
|
NM_000138.5(FBN1):c.1844A>G (p.Asn615Ser)
|
rs397515763
|
0.00001
|
NM_000138.5(FBN1):c.1856C>A (p.Thr619Asn)
|
rs377686210
|
0.00001
|
NM_000138.5(FBN1):c.1907G>A (p.Arg636Lys)
|
rs1335136151
|
0.00001
|
NM_000138.5(FBN1):c.1914A>C (p.Glu638Asp)
|
rs794728180
|
0.00001
|
NM_000138.5(FBN1):c.1937G>A (p.Gly646Asp)
|
rs1238689648
|
0.00001
|
NM_000138.5(FBN1):c.1991G>A (p.Gly664Glu)
|
rs1436966674
|
0.00001
|
NM_000138.5(FBN1):c.2017C>T (p.Pro673Ser)
|
rs766346620
|
0.00001
|
NM_000138.5(FBN1):c.2090A>G (p.Gln697Arg)
|
rs769708437
|
0.00001
|
NM_000138.5(FBN1):c.2098C>T (p.Pro700Ser)
|
rs745694291
|
0.00001
|
NM_000138.5(FBN1):c.2106G>T (p.Gln702His)
|
rs778835898
|
0.00001
|
NM_000138.5(FBN1):c.2115G>A (p.Ala705=)
|
rs932764622
|
0.00001
|
NM_000138.5(FBN1):c.2126C>G (p.Ala709Gly)
|
rs794728184
|
0.00001
|
NM_000138.5(FBN1):c.2153C>T (p.Thr718Met)
|
rs777526851
|
0.00001
|
NM_000138.5(FBN1):c.2188G>A (p.Asp730Asn)
|
rs199625633
|
0.00001
|
NM_000138.5(FBN1):c.2208T>G (p.Asn736Lys)
|
rs1450795956
|
0.00001
|
NM_000138.5(FBN1):c.2228G>A (p.Arg743His)
|
rs761942436
|
0.00001
|
NM_000138.5(FBN1):c.2294-19A>G
|
rs1353634853
|
0.00001
|
NM_000138.5(FBN1):c.2449A>G (p.Ile817Val)
|
rs965020667
|
0.00001
|
NM_000138.5(FBN1):c.2531T>C (p.Ile844Thr)
|
rs751564716
|
0.00001
|
NM_000138.5(FBN1):c.2683A>G (p.Ile895Val)
|
rs772308703
|
0.00001
|
NM_000138.5(FBN1):c.2684T>C (p.Ile895Thr)
|
rs1488064078
|
0.00001
|
NM_000138.5(FBN1):c.2711A>G (p.Lys904Arg)
|
rs778951277
|
0.00001
|
NM_000138.5(FBN1):c.2713G>A (p.Gly905Arg)
|
rs756111066
|
0.00001
|
NM_000138.5(FBN1):c.2768A>G (p.Asn923Ser)
|
rs1220842179
|
0.00001
|
NM_000138.5(FBN1):c.2773C>G (p.Leu925Val)
|
rs149681175
|
0.00001
|
NM_000138.5(FBN1):c.2785A>T (p.Thr929Ser)
|
rs372203315
|
0.00001
|
NM_000138.5(FBN1):c.284C>T (p.Ser95Leu)
|
rs922684362
|
0.00001
|
NM_000138.5(FBN1):c.2858T>C (p.Ile953Thr)
|
rs1177856657
|
0.00001
|
NM_000138.5(FBN1):c.2877C>A (p.Phe959Leu)
|
rs1411365281
|
0.00001
|
NM_000138.5(FBN1):c.287G>C (p.Arg96Thr)
|
rs794728291
|
0.00001
|
NM_000138.5(FBN1):c.2902A>T (p.Thr968Ser)
|
rs752117227
|
0.00001
|
NM_000138.5(FBN1):c.2909C>T (p.Pro970Leu)
|
rs751985082
|
0.00001
|
NM_000138.5(FBN1):c.2926C>T (p.Arg976Cys)
|
rs548296552
|
0.00001
|
NM_000138.5(FBN1):c.2935G>A (p.Ala979Thr)
|
rs748915171
|
0.00001
|
NM_000138.5(FBN1):c.2979C>T (p.Cys993=)
|
rs150126098
|
0.00001
|
NM_000138.5(FBN1):c.297G>A (p.Met99Ile)
|
rs1314594090
|
0.00001
|
NM_000138.5(FBN1):c.3031G>A (p.Gly1011Arg)
|
rs1267721327
|
0.00001
|
NM_000138.5(FBN1):c.3043G>A (p.Ala1015Thr)
|
rs55831697
|
0.00001
|
NM_000138.5(FBN1):c.3089A>G (p.Asn1030Ser)
|
rs375996640
|
0.00001
|
NM_000138.5(FBN1):c.3184G>A (p.Asp1062Asn)
|
rs758366498
|
0.00001
|
NM_000138.5(FBN1):c.3209-3C>A
|
rs397515787
|
0.00001
|
NM_000138.5(FBN1):c.3211A>G (p.Ile1071Val)
|
rs990134651
|
0.00001
|
NM_000138.5(FBN1):c.3214G>A (p.Asp1072Asn)
|
rs778867355
|
0.00001
|
NM_000138.5(FBN1):c.3340A>G (p.Ile1114Val)
|
rs1006702602
|
0.00001
|
NM_000138.5(FBN1):c.3368T>A (p.Leu1123Gln)
|
rs201336778
|
0.00001
|
NM_000138.5(FBN1):c.3376G>A (p.Gly1126Ser)
|
rs1437464599
|
0.00001
|
NM_000138.5(FBN1):c.3400G>A (p.Gly1134Arg)
|
rs372404949
|
0.00001
|
NM_000138.5(FBN1):c.3405T>A (p.Ser1135Arg)
|
rs777727844
|
0.00001
|
NM_000138.5(FBN1):c.3409C>T (p.Arg1137Cys)
|
rs1439487763
|
0.00001
|
NM_000138.5(FBN1):c.3464-3C>T
|
rs770992241
|
0.00001
|
NM_000138.5(FBN1):c.353A>G (p.His118Arg)
|
rs765503809
|
0.00001
|
NM_000138.5(FBN1):c.3560A>G (p.His1187Arg)
|
rs193922200
|
0.00001
|
NM_000138.5(FBN1):c.3563C>T (p.Ser1188Leu)
|
rs1057520181
|
0.00001
|
NM_000138.5(FBN1):c.3571G>A (p.Asp1191Asn)
|
rs370121450
|
0.00001
|
NM_000138.5(FBN1):c.3573T>A (p.Asp1191Glu)
|
rs150912619
|
0.00001
|
NM_000138.5(FBN1):c.3592A>G (p.Ile1198Val)
|
rs370572503
|
0.00001
|
NM_000138.5(FBN1):c.3593T>C (p.Ile1198Thr)
|
rs755375255
|
0.00001
|
NM_000138.5(FBN1):c.365G>A (p.Arg122His)
|
rs1010750845
|
0.00001
|
NM_000138.5(FBN1):c.3674C>T (p.Pro1225Leu)
|
rs775532488
|
0.00001
|
NM_000138.5(FBN1):c.3688A>C (p.Met1230Leu)
|
rs759424465
|
0.00001
|
NM_000138.5(FBN1):c.3689T>C (p.Met1230Thr)
|
rs774003646
|
0.00001
|
NM_000138.5(FBN1):c.370A>G (p.Met124Val)
|
rs764224168
|
0.00001
|
NM_000138.5(FBN1):c.3711C>T (p.Thr1237=)
|
rs536369260
|
0.00001
|
NM_000138.5(FBN1):c.3718G>A (p.Asp1240Asn)
|
rs573187346
|
0.00001
|
NM_000138.5(FBN1):c.3740A>T (p.Asn1247Ile)
|
rs568625812
|
0.00001
|
NM_000138.5(FBN1):c.3797A>T (p.Tyr1266Phe)
|
rs200283837
|
0.00001
|
NM_000138.5(FBN1):c.3811G>A (p.Ala1271Thr)
|
rs993279983
|
0.00001
|
NM_000138.5(FBN1):c.3845A>G (p.Asn1282Ser)
|
rs140647
|
0.00001
|
NM_000138.5(FBN1):c.392A>G (p.Asp131Gly)
|
rs1655998227
|
0.00001
|
NM_000138.5(FBN1):c.3931T>A (p.Tyr1311Asn)
|
rs1406315227
|
0.00001
|
NM_000138.5(FBN1):c.4007A>G (p.His1336Arg)
|
rs886038781
|
0.00001
|
NM_000138.5(FBN1):c.4012G>A (p.Val1338Ile)
|
rs1416288007
|
0.00001
|
NM_000138.5(FBN1):c.4046G>C (p.Ser1349Thr)
|
rs1373690375
|
0.00001
|
NM_000138.5(FBN1):c.4057G>A (p.Gly1353Arg)
|
rs187177496
|
0.00001
|
NM_000138.5(FBN1):c.4075A>G (p.Ile1359Val)
|
rs202192505
|
0.00001
|
NM_000138.5(FBN1):c.4087+6T>A
|
rs746201265
|
0.00001
|
NM_000138.5(FBN1):c.4106A>G (p.Asn1369Ser)
|
rs370923981
|
0.00001
|
NM_000138.5(FBN1):c.4250A>G (p.Asn1417Ser)
|
rs768531262
|
0.00001
|
NM_000138.5(FBN1):c.4282C>T (p.Arg1428Cys)
|
rs1258352189
|
0.00001
|
NM_000138.5(FBN1):c.4283G>A (p.Arg1428His)
|
rs778219976
|
0.00001
|
NM_000138.5(FBN1):c.4294G>A (p.Asp1432Asn)
|
rs778145681
|
0.00001
|
NM_000138.5(FBN1):c.4306G>A (p.Val1436Met)
|
rs377338217
|
0.00001
|
NM_000138.5(FBN1):c.4312A>G (p.Ser1438Gly)
|
rs1309215883
|
0.00001
|
NM_000138.5(FBN1):c.4313G>A (p.Ser1438Asn)
|
rs587782945
|
0.00001
|
NM_000138.5(FBN1):c.4328C>T (p.Ala1443Val)
|
rs560230585
|
0.00001
|
NM_000138.5(FBN1):c.4336+11G>A
|
rs886051249
|
0.00001
|
NM_000138.5(FBN1):c.442C>T (p.Pro148Ser)
|
rs780624885
|
0.00001
|
NM_000138.5(FBN1):c.4444G>A (p.Gly1482Ser)
|
rs762532435
|
0.00001
|
NM_000138.5(FBN1):c.4492A>G (p.Ile1498Val)
|
rs761187818
|
0.00001
|
NM_000138.5(FBN1):c.451G>C (p.Glu151Gln)
|
rs1180715983
|
0.00001
|
NM_000138.5(FBN1):c.4541C>T (p.Pro1514Leu)
|
rs746205136
|
0.00001
|
NM_000138.5(FBN1):c.4568G>A (p.Arg1523Gln)
|
rs201546777
|
0.00001
|
NM_000138.5(FBN1):c.4581T>C (p.Val1527=)
|
rs2043340510
|
0.00001
|
NM_000138.5(FBN1):c.4586C>A (p.Thr1529Asn)
|
rs794728227
|
0.00001
|
NM_000138.5(FBN1):c.4598A>G (p.Asn1533Ser)
|
rs1254024310
|
0.00001
|
NM_000138.5(FBN1):c.4622G>A (p.Arg1541Gln)
|
rs753491504
|
0.00001
|
NM_000138.5(FBN1):c.4718C>T (p.Pro1573Leu)
|
rs1286993730
|
0.00001
|
NM_000138.5(FBN1):c.4747T>G (p.Ser1583Ala)
|
rs959567666
|
0.00001
|
NM_000138.5(FBN1):c.4748-9T>C
|
rs760640909
|
0.00001
|
NM_000138.5(FBN1):c.4772G>A (p.Gly1591Glu)
|
rs772818208
|
0.00001
|
NM_000138.5(FBN1):c.4802C>A (p.Thr1601Asn)
|
rs1363357978
|
0.00001
|
NM_000138.5(FBN1):c.484G>A (p.Ala162Thr)
|
rs193922210
|
0.00001
|
NM_000138.5(FBN1):c.4894C>T (p.Arg1632Cys)
|
rs544990350
|
0.00001
|
NM_000138.5(FBN1):c.4895G>A (p.Arg1632His)
|
rs756227025
|
0.00001
|
NM_000138.5(FBN1):c.4906G>A (p.Gly1636Ser)
|
rs767451077
|
0.00001
|
NM_000138.5(FBN1):c.4913A>C (p.Tyr1638Ser)
|
rs374520085
|
0.00001
|
NM_000138.5(FBN1):c.4931G>A (p.Arg1644Gln)
|
rs768366890
|
0.00001
|
NM_000138.5(FBN1):c.4943-3T>C
|
rs367594261
|
0.00001
|
NM_000138.5(FBN1):c.494G>A (p.Arg165Gln)
|
rs1060501079
|
0.00001
|
NM_000138.5(FBN1):c.5086T>C (p.Tyr1696His)
|
rs373320952
|
0.00001
|
NM_000138.5(FBN1):c.509A>G (p.Tyr170Cys)
|
rs1228647846
|
0.00001
|
NM_000138.5(FBN1):c.5142G>A (p.Met1714Ile)
|
rs368287795
|
0.00001
|
NM_000138.5(FBN1):c.5147A>T (p.Lys1716Met)
|
rs2043292832
|
0.00001
|
NM_000138.5(FBN1):c.5293G>A (p.Val1765Ile)
|
rs2043270857
|
0.00001
|
NM_000138.5(FBN1):c.5304T>A (p.Asp1768Glu)
|
rs867058901
|
0.00001
|
NM_000138.5(FBN1):c.5312G>A (p.Arg1771Gln)
|
rs759791896
|
0.00001
|
NM_000138.5(FBN1):c.5347A>T (p.Ile1783Phe)
|
rs1232797551
|
0.00001
|
NM_000138.5(FBN1):c.5413G>A (p.Val1805Ile)
|
rs745636786
|
0.00001
|
NM_000138.5(FBN1):c.5441A>G (p.Asn1814Ser)
|
rs775463311
|
0.00001
|
NM_000138.5(FBN1):c.5449G>A (p.Val1817Met)
|
rs757901214
|
0.00001
|
NM_000138.5(FBN1):c.5459G>A (p.Arg1820His)
|
rs1340155407
|
0.00001
|
NM_000138.5(FBN1):c.5464G>A (p.Ala1822Thr)
|
rs777539060
|
0.00001
|
NM_000138.5(FBN1):c.5495G>A (p.Arg1832His)
|
rs764203302
|
0.00001
|
NM_000138.5(FBN1):c.5512G>A (p.Gly1838Ser)
|
rs397515823
|
0.00001
|
NM_000138.5(FBN1):c.5546-4A>C
|
rs919423974
|
0.00001
|
NM_000138.5(FBN1):c.5548C>T (p.Arg1850Cys)
|
rs750720912
|
0.00001
|
NM_000138.5(FBN1):c.5549G>A (p.Arg1850His)
|
rs779174265
|
0.00001
|
NM_000138.5(FBN1):c.5582G>A (p.Ser1861Asn)
|
rs766358553
|
0.00001
|
NM_000138.5(FBN1):c.5596A>G (p.Ile1866Val)
|
rs367586350
|
0.00001
|
NM_000138.5(FBN1):c.5603C>T (p.Thr1868Ile)
|
rs145082616
|
0.00001
|
NM_000138.5(FBN1):c.5630A>G (p.His1877Arg)
|
rs746473206
|
0.00001
|
NM_000138.5(FBN1):c.5738A>G (p.Asn1913Ser)
|
rs749606552
|
0.00001
|
NM_000138.5(FBN1):c.5753A>G (p.His1918Arg)
|
rs993464239
|
0.00001
|
NM_000138.5(FBN1):c.5771A>G (p.His1924Arg)
|
rs748230405
|
0.00001
|
NM_000138.5(FBN1):c.5776A>G (p.Asn1926Asp)
|
rs1060501097
|
0.00001
|
NM_000138.5(FBN1):c.5776_5778del (p.Asn1926del)
|
rs886038964
|
0.00001
|
NM_000138.5(FBN1):c.5875A>G (p.Asn1959Asp)
|
rs956702513
|
0.00001
|
NM_000138.5(FBN1):c.5876A>G (p.Asn1959Ser)
|
rs773486280
|
0.00001
|
NM_000138.5(FBN1):c.590G>A (p.Gly197Glu)
|
rs895824095
|
0.00001
|
NM_000138.5(FBN1):c.5977G>A (p.Asp1993Asn)
|
rs377671719
|
0.00001
|
NM_000138.5(FBN1):c.598A>G (p.Ser200Gly)
|
rs1057036462
|
0.00001
|
NM_000138.5(FBN1):c.6001C>T (p.Pro2001Ser)
|
rs921321822
|
0.00001
|
NM_000138.5(FBN1):c.6025G>A (p.Glu2009Lys)
|
rs773204216
|
0.00001
|
NM_000138.5(FBN1):c.6043G>A (p.Asp2015Asn)
|
rs768457461
|
0.00001
|
NM_000138.5(FBN1):c.6163+2dup
|
rs794728315
|
0.00001
|
NM_000138.5(FBN1):c.6187G>A (p.Ala2063Thr)
|
rs1316593215
|
0.00001
|
NM_000138.5(FBN1):c.6196G>A (p.Glu2066Lys)
|
rs1219570062
|
0.00001
|
NM_000138.5(FBN1):c.6244G>C (p.Glu2082Gln)
|
rs1052480459
|
0.00001
|
NM_000138.5(FBN1):c.6289G>A (p.Glu2097Lys)
|
rs397515831
|
0.00001
|
NM_000138.5(FBN1):c.6315G>A (p.Glu2105=)
|
rs1478813051
|
0.00001
|
NM_000138.5(FBN1):c.6323G>A (p.Arg2108His)
|
rs762659907
|
0.00001
|
NM_000138.5(FBN1):c.6403G>A (p.Asp2135Asn)
|
rs746167150
|
0.00001
|
NM_000138.5(FBN1):c.6416A>G (p.His2139Arg)
|
rs794728248
|
0.00001
|
NM_000138.5(FBN1):c.643C>G (p.Arg215Gly)
|
rs111687884
|
0.00001
|
NM_000138.5(FBN1):c.644G>A (p.Arg215Gln)
|
rs753703844
|
0.00001
|
NM_000138.5(FBN1):c.6454G>A (p.Glu2152Lys)
|
rs777877864
|
0.00001
|
NM_000138.5(FBN1):c.6461C>G (p.Pro2154Arg)
|
rs756219617
|
0.00001
|
NM_000138.5(FBN1):c.6496+3G>A
|
rs750222196
|
0.00001
|
NM_000138.5(FBN1):c.6499A>C (p.Thr2167Pro)
|
rs373510719
|
0.00001
|
NM_000138.5(FBN1):c.6559G>A (p.Gly2187Ser)
|
rs760055383
|
0.00001
|
NM_000138.5(FBN1):c.6560G>A (p.Gly2187Asp)
|
rs2043050989
|
0.00001
|
NM_000138.5(FBN1):c.6595G>A (p.Gly2199Ser)
|
rs770132403
|
0.00001
|
NM_000138.5(FBN1):c.6601A>G (p.Met2201Val)
|
rs776823384
|
0.00001
|
NM_000138.5(FBN1):c.6659G>A (p.Arg2220Gln)
|
rs780651466
|
0.00001
|
NM_000138.5(FBN1):c.6724C>T (p.Arg2242Cys)
|
rs779749926
|
0.00001
|
NM_000138.5(FBN1):c.6725G>A (p.Arg2242His)
|
rs773084230
|
0.00001
|
NM_000138.5(FBN1):c.6739+10C>T
|
rs1179540326
|
0.00001
|
NM_000138.5(FBN1):c.6745G>A (p.Asp2249Asn)
|
rs746666535
|
0.00001
|
NM_000138.5(FBN1):c.6806T>C (p.Ile2269Thr)
|
rs193922228
|
0.00001
|
NM_000138.5(FBN1):c.6845G>A (p.Arg2282Gln)
|
rs759696323
|
0.00001
|
NM_000138.5(FBN1):c.687C>G (p.His229Gln)
|
rs1391600366
|
0.00001
|
NM_000138.5(FBN1):c.6917G>A (p.Arg2306His)
|
rs770443276
|
0.00001
|
NM_000138.5(FBN1):c.6932G>A (p.Arg2311His)
|
rs141868829
|
0.00001
|
NM_000138.5(FBN1):c.6970G>A (p.Ala2324Thr)
|
rs148831709
|
0.00001
|
NM_000138.5(FBN1):c.6988G>A (p.Glu2330Lys)
|
rs1042807324
|
0.00001
|
NM_000138.5(FBN1):c.6997+15C>T
|
rs1453967282
|
0.00001
|
NM_000138.5(FBN1):c.6997+3G>A
|
rs1270425478
|
0.00001
|
NM_000138.5(FBN1):c.7057A>G (p.Ser2353Gly)
|
rs886042199
|
0.00001
|
NM_000138.5(FBN1):c.7082C>T (p.Ser2361Leu)
|
rs397515844
|
0.00001
|
NM_000138.5(FBN1):c.7181G>A (p.Arg2394Gln)
|
rs199750146
|
0.00001
|
NM_000138.5(FBN1):c.7189A>G (p.Met2397Val)
|
rs774698871
|
0.00001
|
NM_000138.5(FBN1):c.7228C>T (p.His2410Tyr)
|
rs548057493
|
0.00001
|
NM_000138.5(FBN1):c.722C>T (p.Thr241Met)
|
rs747049980
|
0.00001
|
NM_000138.5(FBN1):c.7330+5G>A
|
rs1330909386
|
0.00001
|
NM_000138.5(FBN1):c.7360C>A (p.Pro2454Thr)
|
rs1166405014
|
0.00001
|
NM_000138.5(FBN1):c.7361C>T (p.Pro2454Leu)
|
rs1555394410
|
0.00001
|
NM_000138.5(FBN1):c.7484A>G (p.Asn2495Ser)
|
rs1252037822
|
0.00001
|
NM_000138.5(FBN1):c.7529A>G (p.Lys2510Arg)
|
rs767602851
|
0.00001
|
NM_000138.5(FBN1):c.7559C>T (p.Thr2520Met)
|
rs763759308
|
0.00001
|
NM_000138.5(FBN1):c.7567A>C (p.Ile2523Leu)
|
rs199524640
|
0.00001
|
NM_000138.5(FBN1):c.757A>G (p.Ile253Val)
|
rs1422959121
|
0.00001
|
NM_000138.5(FBN1):c.7598A>G (p.Asn2533Ser)
|
rs111231879
|
0.00001
|
NM_000138.5(FBN1):c.763G>A (p.Gly255Arg)
|
rs781113082
|
0.00001
|
NM_000138.5(FBN1):c.7647C>T (p.Thr2549=)
|
rs1184032259
|
0.00001
|
NM_000138.5(FBN1):c.7702G>A (p.Val2568Met)
|
rs138558987
|
0.00001
|
NM_000138.5(FBN1):c.776G>A (p.Gly259Glu)
|
rs751169871
|
0.00001
|
NM_000138.5(FBN1):c.7848C>G (p.Ile2616Met)
|
rs138184493
|
0.00001
|
NM_000138.5(FBN1):c.7903G>A (p.Ala2635Thr)
|
rs746859988
|
0.00001
|
NM_000138.5(FBN1):c.7906G>A (p.Gly2636Ser)
|
rs112566465
|
0.00001
|
NM_000138.5(FBN1):c.7949A>G (p.Asn2650Ser)
|
rs756819682
|
0.00001
|
NM_000138.5(FBN1):c.796G>A (p.Val266Ile)
|
rs201669595
|
0.00001
|
NM_000138.5(FBN1):c.8026C>T (p.Pro2676Ser)
|
rs745650955
|
0.00001
|
NM_000138.5(FBN1):c.8029G>A (p.Gly2677Ser)
|
rs1566889839
|
0.00001
|
NM_000138.5(FBN1):c.8051+5G>A
|
rs767384075
|
0.00001
|
NM_000138.5(FBN1):c.8123A>G (p.Asn2708Ser)
|
rs759494825
|
0.00001
|
NM_000138.5(FBN1):c.814A>C (p.Lys272Gln)
|
rs762276905
|
0.00001
|
NM_000138.5(FBN1):c.8177G>A (p.Arg2726Gln)
|
rs552157433
|
0.00001
|
NM_000138.5(FBN1):c.8189G>A (p.Arg2730Gln)
|
rs200231626
|
0.00001
|
NM_000138.5(FBN1):c.8198C>G (p.Thr2733Arg)
|
rs794728340
|
0.00001
|
NM_000138.5(FBN1):c.8200A>G (p.Asn2734Asp)
|
rs757532651
|
0.00001
|
NM_000138.5(FBN1):c.8218A>G (p.Asn2740Asp)
|
rs397515860
|
0.00001
|
NM_000138.5(FBN1):c.8227-3C>T
|
rs200822151
|
0.00001
|
NM_000138.5(FBN1):c.8257C>G (p.Leu2753Val)
|
rs1253681259
|
0.00001
|
NM_000138.5(FBN1):c.8261C>T (p.Ala2754Val)
|
rs1372306620
|
0.00001
|
NM_000138.5(FBN1):c.826G>A (p.Gly276Arg)
|
rs1220647446
|
0.00001
|
NM_000138.5(FBN1):c.827G>T (p.Gly276Val)
|
rs534859193
|
0.00001
|
NM_000138.5(FBN1):c.8326C>T (p.Arg2776Ter)
|
rs137854466
|
0.00001
|
NM_000138.5(FBN1):c.8331C>G (p.Ile2777Met)
|
rs1427984176
|
0.00001
|
NM_000138.5(FBN1):c.8418C>G (p.Ile2806Met)
|
rs1480715909
|
0.00001
|
NM_000138.5(FBN1):c.8461A>C (p.Lys2821Gln)
|
rs794728286
|
0.00001
|
NM_000138.5(FBN1):c.8494A>G (p.Ser2832Gly)
|
rs376933421
|
0.00001
|
NM_000138.5(FBN1):c.8509T>C (p.Tyr2837His)
|
rs1306203757
|
0.00001
|
NM_000138.5(FBN1):c.8524C>T (p.Leu2842Phe)
|
rs755903722
|
0.00001
|
NM_000138.5(FBN1):c.8537A>G (p.Glu2846Gly)
|
rs754570125
|
0.00001
|
NM_000138.5(FBN1):c.8543A>C (p.Lys2848Thr)
|
rs765839151
|
0.00001
|
NM_000138.5(FBN1):c.8551A>G (p.Lys2851Glu)
|
rs371939796
|
0.00001
|
NM_000138.5(FBN1):c.8606T>C (p.Leu2869Ser)
|
rs363848
|
0.00001
|
NM_000138.5(FBN1):c.862+3A>G
|
rs1555401453
|
0.00001
|
NM_000138.5(FBN1):c.863A>G (p.Asp288Gly)
|
rs565078451
|
0.00001
|
NM_000138.5(FBN1):c.913A>G (p.Thr305Ala)
|
rs758035051
|
0.00001
|
NM_000138.5(FBN1):c.91G>A (p.Ala31Thr)
|
rs371130701
|
0.00001
|
NM_000138.5(FBN1):c.968C>T (p.Pro323Leu)
|
rs1183175645
|
0.00001
|
NM_000138.5(FBN1):c.987A>G (p.Ile329Met)
|
rs1289726476
|
0.00001
|
NM_000138.5(FBN1):c.994C>T (p.Arg332Cys)
|
rs1161109360
|
0.00001
|
NM_000138.5(FBN1):c.995G>A (p.Arg332His)
|
rs748929044
|
0.00001
|
NM_000142.5(FGFR3):c.1075+8C>T
|
rs779181976
|
0.00001
|
NM_000142.5(FGFR3):c.1524G>A (p.Lys508=)
|
rs756833829
|
0.00001
|
NM_000222.3(KIT):c.1553C>T (p.Pro518Leu)
|
rs569408054
|
0.00001
|
NM_000222.3(KIT):c.2863G>T (p.Val955Leu)
|
rs1060502568
|
0.00001
|
NM_000222.3(KIT):c.2900C>G (p.Ser967Cys)
|
rs1232060384
|
0.00001
|
NM_000243.3(MEFV):c.*1080A>G
|
rs568129540
|
0.00001
|
NM_000243.3(MEFV):c.*19C>T
|
rs761376734
|
0.00001
|
NM_000243.3(MEFV):c.*543C>T
|
rs886051970
|
0.00001
|
NM_000243.3(MEFV):c.*690G>T
|
rs1308863589
|
0.00001
|
NM_000243.3(MEFV):c.101A>C (p.Gln34Pro)
|
rs1959117792
|
0.00001
|
NM_000243.3(MEFV):c.1024C>T (p.Pro342Ser)
|
rs774397209
|
0.00001
|
NM_000243.3(MEFV):c.1048C>T (p.Pro350Ser)
|
rs756751963
|
0.00001
|
NM_000243.3(MEFV):c.1091C>T (p.Pro364Leu)
|
rs104895214
|
0.00001
|
NM_000243.3(MEFV):c.1131C>T (p.Arg377=)
|
rs149941578
|
0.00001
|
NM_000243.3(MEFV):c.1211A>G (p.His404Arg)
|
rs755659290
|
0.00001
|
NM_000243.3(MEFV):c.1222C>T (p.Arg408Trp)
|
rs758868622
|
0.00001
|
NM_000243.3(MEFV):c.1399G>A (p.Glu467Lys)
|
rs758485822
|
0.00001
|
NM_000243.3(MEFV):c.1401G>A (p.Glu467=)
|
rs1398639205
|
0.00001
|
NM_000243.3(MEFV):c.1420G>A (p.Glu474Lys)
|
rs104895104
|
0.00001
|
NM_000243.3(MEFV):c.1450C>A (p.Leu484Met)
|
rs760827469
|
0.00001
|
NM_000243.3(MEFV):c.1455G>A (p.Glu485=)
|
rs958054431
|
0.00001
|
NM_000243.3(MEFV):c.1485G>A (p.Arg495=)
|
rs1012455878
|
0.00001
|
NM_000243.3(MEFV):c.149C>T (p.Pro50Leu)
|
rs144716190
|
0.00001
|
NM_000243.3(MEFV):c.1501C>T (p.Arg501Cys)
|
rs104895101
|
0.00001
|
NM_000243.3(MEFV):c.1508C>G (p.Ser503Cys)
|
rs190705322
|
0.00001
|
NM_000243.3(MEFV):c.1513G>T (p.Asp505Tyr)
|
rs150730718
|
0.00001
|
NM_000243.3(MEFV):c.1538T>C (p.Ile513Thr)
|
rs104895199
|
0.00001
|
NM_000243.3(MEFV):c.1559A>T (p.Glu520Val)
|
rs769888172
|
0.00001
|
NM_000243.3(MEFV):c.1577A>G (p.Glu526Gly)
|
rs772349671
|
0.00001
|
NM_000243.3(MEFV):c.1643C>A (p.Thr548Asn)
|
rs550970304
|
0.00001
|
NM_000243.3(MEFV):c.1681C>T (p.His561Tyr)
|
rs952604863
|
0.00001
|
NM_000243.3(MEFV):c.1744A>C (p.Met582Leu)
|
rs104895165
|
0.00001
|
NM_000243.3(MEFV):c.1780C>T (p.Gln594Ter)
|
rs780770024
|
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.1897C>A (p.Pro633Thr)
|
rs1958893897
|
0.00001
|
NM_000243.3(MEFV):c.1899G>A (p.Pro633=)
|
rs776315170
|
0.00001
|
NM_000243.3(MEFV):c.1916G>A (p.Cys639Tyr)
|
rs1439074921
|
0.00001
|
NM_000243.3(MEFV):c.1964G>T (p.Trp655Leu)
|
rs1432156641
|
0.00001
|
NM_000243.3(MEFV):c.2045dup (p.Ser683fs)
|
rs1242998026
|
0.00001
|
NM_000243.3(MEFV):c.2048C>T (p.Ser683Leu)
|
rs534682649
|
0.00001
|
NM_000243.3(MEFV):c.2065T>C (p.Trp689Arg)
|
rs566082564
|
0.00001
|
NM_000243.3(MEFV):c.2066G>T (p.Trp689Leu)
|
rs1487302096
|
0.00001
|
NM_000243.3(MEFV):c.2078T>C (p.Met693Thr)
|
rs749052818
|
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.2227T>C (p.Phe743Leu)
|
rs876661026
|
0.00001
|
NM_000243.3(MEFV):c.2303C>G (p.Ala768Gly)
|
rs748264438
|
0.00001
|
NM_000243.3(MEFV):c.2314A>G (p.Ile772Val)
|
rs104895163
|
0.00001
|
NM_000243.3(MEFV):c.2318G>A (p.Cys773Tyr)
|
rs1430125672
|
0.00001
|
NM_000243.3(MEFV):c.2330_2331del (p.Gly777fs)
|
rs753946287
|
0.00001
|
NM_000243.3(MEFV):c.2336G>T (p.Gly779Val)
|
rs1459541096
|
0.00001
|
NM_000243.3(MEFV):c.2338C>A (p.Pro780Thr)
|
rs104895154
|
0.00001
|
NM_000243.3(MEFV):c.233A>G (p.Asn78Ser)
|
rs145015653
|
0.00001
|
NM_000243.3(MEFV):c.301A>G (p.Thr101Ala)
|
rs1342717419
|
0.00001
|
NM_000243.3(MEFV):c.30G>A (p.Leu10=)
|
rs553819712
|
0.00001
|
NM_000243.3(MEFV):c.319T>G (p.Ser107Ala)
|
rs756029520
|
0.00001
|
NM_000243.3(MEFV):c.32C>G (p.Ser11Cys)
|
rs149693562
|
0.00001
|
NM_000243.3(MEFV):c.377G>T (p.Gly126Val)
|
rs1390689550
|
0.00001
|
NM_000243.3(MEFV):c.401C>T (p.Pro134Leu)
|
rs377250147
|
0.00001
|
NM_000243.3(MEFV):c.403T>A (p.Tyr135Asn)
|
rs145078602
|
0.00001
|
NM_000243.3(MEFV):c.405C>T (p.Tyr135=)
|
rs766323718
|
0.00001
|
NM_000243.3(MEFV):c.411C>T (p.Gly137=)
|
rs1266277814
|
0.00001
|
NM_000243.3(MEFV):c.422G>T (p.Ser141Ile)
|
rs104895130
|
0.00001
|
NM_000243.3(MEFV):c.426G>C (p.Leu142=)
|
rs1465332482
|
0.00001
|
NM_000243.3(MEFV):c.443A>T (p.Glu148Val)
|
rs104895076
|
0.00001
|
NM_000243.3(MEFV):c.448G>A (p.Gly150Arg)
|
rs1959088372
|
0.00001
|
NM_000243.3(MEFV):c.48G>A (p.Leu16=)
|
rs777381107
|
0.00001
|
NM_000243.3(MEFV):c.490A>C (p.Lys164Gln)
|
rs1306636942
|
0.00001
|
NM_000243.3(MEFV):c.515A>C (p.Gln172Pro)
|
rs104895211
|
0.00001
|
NM_000243.3(MEFV):c.520A>G (p.Lys174Glu)
|
rs777199024
|
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.536G>A (p.Ser179Asn)
|
rs104895125
|
0.00001
|
NM_000243.3(MEFV):c.540G>C (p.Pro180=)
|
rs104895139
|
0.00001
|
NM_000243.3(MEFV):c.552C>T (p.Gly184=)
|
rs1488496414
|
0.00001
|
NM_000243.3(MEFV):c.553G>A (p.Gly185Arg)
|
rs1266566289
|
0.00001
|
NM_000243.3(MEFV):c.566G>T (p.Gly189Val)
|
rs923516953
|
0.00001
|
NM_000243.3(MEFV):c.575G>C (p.Arg192Thr)
|
rs1390723147
|
0.00001
|
NM_000243.3(MEFV):c.589G>C (p.Gly197Arg)
|
rs765450054
|
0.00001
|
NM_000243.3(MEFV):c.608T>C (p.Leu203Pro)
|
rs1959084389
|
0.00001
|
NM_000243.3(MEFV):c.651G>C (p.Ala217=)
|
rs886051971
|
0.00001
|
NM_000243.3(MEFV):c.66G>A (p.Glu22=)
|
rs569040282
|
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.68A>G (p.Lys23Arg)
|
rs754679070
|
0.00001
|
NM_000243.3(MEFV):c.704C>T (p.Ser235Leu)
|
rs757793348
|
0.00001
|
NM_000243.3(MEFV):c.726C>T (p.Ser242=)
|
rs104895127
|
0.00001
|
NM_000243.3(MEFV):c.786T>C (p.Thr262=)
|
rs575521131
|
0.00001
|
NM_000243.3(MEFV):c.801A>G (p.Thr267=)
|
rs141455838
|
0.00001
|
NM_000243.3(MEFV):c.808A>G (p.Asn270Asp)
|
rs753623518
|
0.00001
|
NM_000243.3(MEFV):c.828A>C (p.Glu276Asp)
|
rs775020273
|
0.00001
|
NM_000243.3(MEFV):c.839G>A (p.Arg280Lys)
|
rs1437746739
|
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_000243.3(MEFV):c.922G>T (p.Asp308Tyr)
|
rs368322244
|
0.00001
|
NM_000243.3(MEFV):c.985C>T (p.Arg329Cys)
|
rs757216434
|
0.00001
|
NM_000243.3(MEFV):c.995G>A (p.Cys332Tyr)
|
rs1379609898
|
0.00001
|
NM_000246.4(CIITA):c.1939C>T (p.Arg647Cys)
|
rs372705496
|
0.00001
|
NM_000246.4(CIITA):c.2375A>T (p.Tyr792Phe)
|
rs1234424650
|
0.00001
|
NM_000246.4(CIITA):c.2564C>T (p.Ala855Val)
|
rs760864976
|
0.00001
|
NM_000246.4(CIITA):c.2831C>T (p.Ser944Leu)
|
rs750740701
|
0.00001
|
NM_000246.4(CIITA):c.631C>T (p.Pro211Ser)
|
rs201764329
|
0.00001
|
NM_000264.5(PTCH1):c.203G>A (p.Gly68Glu)
|
rs757430199
|
0.00001
|
NM_000288.4(PEX7):c.961A>G (p.Ile321Val)
|
rs879706210
|
0.00001
|
NM_000302.4(PLOD1):c.-58G>A
|
rs552712043
|
0.00001
|
NM_000302.4(PLOD1):c.1005G>C (p.Glu335Asp)
|
rs1195535094
|
0.00001
|
NM_000302.4(PLOD1):c.1027G>A (p.Glu343Lys)
|
rs748344499
|
0.00001
|
NM_000302.4(PLOD1):c.1063C>T (p.Arg355Trp)
|
rs775007891
|
0.00001
|
NM_000302.4(PLOD1):c.1095C>T (p.Gly365=)
|
rs1032781250
|
0.00001
|
NM_000302.4(PLOD1):c.1096G>A (p.Ala366Thr)
|
rs367592901
|
0.00001
|
NM_000302.4(PLOD1):c.1130A>C (p.Tyr377Ser)
|
rs754748178
|
0.00001
|
NM_000302.4(PLOD1):c.115G>A (p.Glu39Lys)
|
rs538407894
|
0.00001
|
NM_000302.4(PLOD1):c.1165G>A (p.Glu389Lys)
|
rs373520363
|
0.00001
|
NM_000302.4(PLOD1):c.1173C>G (p.Asn391Lys)
|
rs764179880
|
0.00001
|
NM_000302.4(PLOD1):c.1180C>T (p.Arg394Trp)
|
rs1428519006
|
0.00001
|
NM_000302.4(PLOD1):c.1181G>A (p.Arg394Gln)
|
rs767839550
|
0.00001
|
NM_000302.4(PLOD1):c.1193A>C (p.Gln398Pro)
|
rs1434675020
|
0.00001
|
NM_000302.4(PLOD1):c.1207G>A (p.Val403Ile)
|
rs773517731
|
0.00001
|
NM_000302.4(PLOD1):c.1217C>T (p.Pro406Leu)
|
rs753623016
|
0.00001
|
NM_000302.4(PLOD1):c.127C>T (p.Arg43Cys)
|
rs778603432
|
0.00001
|
NM_000302.4(PLOD1):c.1325G>A (p.Arg442His)
|
rs199567720
|
0.00001
|
NM_000302.4(PLOD1):c.1357A>G (p.Asn453Asp)
|
rs1204551467
|
0.00001
|
NM_000302.4(PLOD1):c.1435C>T (p.Pro479Ser)
|
rs758780380
|
0.00001
|
NM_000302.4(PLOD1):c.1482G>C (p.Met494Ile)
|
rs780133138
|
0.00001
|
NM_000302.4(PLOD1):c.1511A>G (p.His504Arg)
|
rs555034048
|
0.00001
|
NM_000302.4(PLOD1):c.1516C>T (p.Leu506Phe)
|
rs1374717198
|
0.00001
|
NM_000302.4(PLOD1):c.1535G>A (p.Arg512His)
|
rs773170096
|
0.00001
|
NM_000302.4(PLOD1):c.1543C>T (p.His515Tyr)
|
rs746905101
|
0.00001
|
NM_000302.4(PLOD1):c.1581C>T (p.Pro527=)
|
rs142934642
|
0.00001
|
NM_000302.4(PLOD1):c.1603A>G (p.Ile535Val)
|
rs376017234
|
0.00001
|
NM_000302.4(PLOD1):c.1828C>T (p.Arg610Trp)
|
rs769499769
|
0.00001
|
NM_000302.4(PLOD1):c.1865C>T (p.Pro622Leu)
|
rs766973023
|
0.00001
|
NM_000302.4(PLOD1):c.1937A>G (p.Lys646Arg)
|
rs1221992885
|
0.00001
|
NM_000302.4(PLOD1):c.1990A>G (p.Ile664Val)
|
rs1487304416
|
0.00001
|
NM_000302.4(PLOD1):c.2042G>A (p.Arg681Gln)
|
rs755654001
|
0.00001
|
NM_000302.4(PLOD1):c.2050C>T (p.Arg684Cys)
|
rs748841458
|
0.00001
|
NM_000302.4(PLOD1):c.2051G>A (p.Arg684His)
|
rs772498138
|
0.00001
|
NM_000302.4(PLOD1):c.2068C>T (p.Arg690Ter)
|
rs373094220
|
0.00001
|
NM_000302.4(PLOD1):c.2084G>T (p.Gly695Val)
|
rs1415378080
|
0.00001
|
NM_000302.4(PLOD1):c.2095A>G (p.Met699Val)
|
rs142916043
|
0.00001
|
NM_000302.4(PLOD1):c.209C>T (p.Thr70Met)
|
rs780253192
|
0.00001
|
NM_000302.4(PLOD1):c.2160C>T (p.Ile720=)
|
rs140513387
|
0.00001
|
NM_000302.4(PLOD1):c.265G>T (p.Ala89Ser)
|
rs886039207
|
0.00001
|
NM_000302.4(PLOD1):c.331C>T (p.Arg111Trp)
|
rs772221158
|
0.00001
|
NM_000302.4(PLOD1):c.352C>T (p.Arg118Trp)
|
rs771186398
|
0.00001
|
NM_000302.4(PLOD1):c.353G>A (p.Arg118Gln)
|
rs781455578
|
0.00001
|
NM_000302.4(PLOD1):c.363G>C (p.Arg121Ser)
|
rs768422539
|
0.00001
|
NM_000302.4(PLOD1):c.407G>A (p.Arg136His)
|
rs148510973
|
0.00001
|
NM_000302.4(PLOD1):c.466+3G>A
|
rs779840832
|
0.00001
|
NM_000302.4(PLOD1):c.590A>G (p.Asn197Ser)
|
rs750416079
|
0.00001
|
NM_000302.4(PLOD1):c.607C>T (p.Arg203Cys)
|
rs534314930
|
0.00001
|
NM_000302.4(PLOD1):c.677T>C (p.Val226Ala)
|
rs376643174
|
0.00001
|
NM_000302.4(PLOD1):c.71C>G (p.Pro24Arg)
|
rs1438879558
|
0.00001
|
NM_000302.4(PLOD1):c.741+4G>C
|
rs763641520
|
0.00001
|
NM_000302.4(PLOD1):c.742-9C>G
|
rs771746998
|
0.00001
|
NM_000302.4(PLOD1):c.797G>A (p.Gly266Asp)
|
rs558752942
|
0.00001
|
NM_000302.4(PLOD1):c.824G>A (p.Arg275His)
|
rs184999645
|
0.00001
|
NM_000302.4(PLOD1):c.82C>A (p.Leu28Ile)
|
rs776894307
|
0.00001
|
NM_000302.4(PLOD1):c.856C>T (p.Pro286Ser)
|
rs748920493
|
0.00001
|
NM_000302.4(PLOD1):c.860C>T (p.Thr287Met)
|
rs777957649
|
0.00001
|
NM_000302.4(PLOD1):c.871G>A (p.Gly291Ser)
|
rs776772692
|
0.00001
|
NM_000302.4(PLOD1):c.896C>T (p.Pro299Leu)
|
rs532145123
|
0.00001
|
NM_000302.4(PLOD1):c.920G>A (p.Arg307Gln)
|
rs960778465
|
0.00001
|
NM_000302.4(PLOD1):c.948A>G (p.Lys316=)
|
rs746354303
|
0.00001
|
NM_000302.4(PLOD1):c.95C>T (p.Thr32Met)
|
rs374597380
|
0.00001
|
NM_000316.3(PTH1R):c.595C>T (p.Leu199=)
|
rs1336354545
|
0.00001
|
NM_000321.3(RB1):c.1174G>A (p.Ala392Thr)
|
rs181988132
|
0.00001
|
NM_000321.3(RB1):c.269G>T (p.Gly90Val)
|
rs554727080
|
0.00001
|
NM_000321.3(RB1):c.352A>T (p.Thr118Ser)
|
rs1429553692
|
0.00001
|
NM_000321.3(RB1):c.752G>A (p.Arg251Gln)
|
rs772678500
|
0.00001
|
NM_000346.4(SOX9):c.916G>T (p.Val306Leu)
|
rs779386878
|
0.00001
|
NM_000368.5(TSC1):c.1355G>C (p.Gly452Ala)
|
rs371093730
|
0.00001
|
NM_000388.4(CASR):c.*1298A>G
|
rs1470056406
|
0.00001
|
NM_000388.4(CASR):c.*625G>A
|
rs886057833
|
0.00001
|
NM_000388.4(CASR):c.-10C>T
|
rs753659949
|
0.00001
|
NM_000388.4(CASR):c.108G>A (p.Gly36=)
|
rs781573002
|
0.00001
|
NM_000388.4(CASR):c.1091C>A (p.Ala364Glu)
|
rs200771541
|
0.00001
|
NM_000388.4(CASR):c.1140T>A (p.Ser380Arg)
|
rs145869851
|
0.00001
|
NM_000388.4(CASR):c.1149G>C (p.Arg383Ser)
|
rs148573275
|
0.00001
|
NM_000388.4(CASR):c.1163C>T (p.Ser388Leu)
|
rs377282860
|
0.00001
|
NM_000388.4(CASR):c.118A>G (p.Ile40Val)
|
rs1458833527
|
0.00001
|
NM_000388.4(CASR):c.1193A>G (p.Asp398Gly)
|
rs202101164
|
0.00001
|
NM_000388.4(CASR):c.1283C>T (p.Ala428Val)
|
rs895543540
|
0.00001
|
NM_000388.4(CASR):c.1297G>C (p.Asp433His)
|
rs199511990
|
0.00001
|
NM_000388.4(CASR):c.1478A>G (p.Asn493Ser)
|
rs140347078
|
0.00001
|
NM_000388.4(CASR):c.1843G>A (p.Ala615Thr)
|
rs768660050
|
0.00001
|
NM_000388.4(CASR):c.1912C>T (p.Arg638Cys)
|
rs1185593894
|
0.00001
|
NM_000388.4(CASR):c.1923C>T (p.Pro641=)
|
rs368093724
|
0.00001
|
NM_000388.4(CASR):c.2012A>T (p.Glu671Val)
|
rs199957040
|
0.00001
|
NM_000388.4(CASR):c.2027C>G (p.Thr676Arg)
|
rs768204447
|
0.00001
|
NM_000388.4(CASR):c.2147G>A (p.Arg716His)
|
rs201670662
|
0.00001
|
NM_000388.4(CASR):c.2216G>A (p.Cys739Tyr)
|
rs375468610
|
0.00001
|
NM_000388.4(CASR):c.2255G>A (p.Arg752His)
|
rs771529256
|
0.00001
|
NM_000388.4(CASR):c.232A>G (p.Ile78Val)
|
rs769294626
|
0.00001
|
NM_000388.4(CASR):c.2437A>G (p.Ile813Val)
|
rs746541034
|
0.00001
|
NM_000388.4(CASR):c.2551T>A (p.Cys851Ser)
|
rs200777304
|
0.00001
|
NM_000388.4(CASR):c.2677A>G (p.Asn893Asp)
|
rs1392921552
|
0.00001
|
NM_000388.4(CASR):c.2680G>A (p.Val894Ile)
|
rs200883282
|
0.00001
|
NM_000388.4(CASR):c.269A>C (p.Asn90Thr)
|
rs193922439
|
0.00001
|
NM_000388.4(CASR):c.2819A>C (p.Gln940Pro)
|
rs1293909274
|
0.00001
|
NM_000388.4(CASR):c.2915C>T (p.Thr972Met)
|
rs200620134
|
0.00001
|
NM_000388.4(CASR):c.3054C>T (p.Cys1018=)
|
rs371038712
|
0.00001
|
NM_000388.4(CASR):c.3197G>A (p.Gly1066Asp)
|
rs769439564
|
0.00001
|
NM_000388.4(CASR):c.40A>G (p.Thr14Ala)
|
rs199515839
|
0.00001
|
NM_000388.4(CASR):c.53C>T (p.Ser18Phe)
|
rs749748004
|
0.00001
|
NM_000388.4(CASR):c.614G>A (p.Arg205His)
|
rs763162046
|
0.00001
|
NM_000388.4(CASR):c.649G>A (p.Asp217Asn)
|
rs201091657
|
0.00001
|
NM_000388.4(CASR):c.857G>A (p.Arg286His)
|
rs922511747
|
0.00001
|
NM_000388.4(CASR):c.946G>A (p.Gly316Ser)
|
rs755997016
|
0.00001
|
NM_000388.4(CASR):c.98T>G (p.Ile33Ser)
|
rs758232331
|
0.00001
|
NM_000393.5(COL5A2):c.1693G>A (p.Glu565Lys)
|
rs730880066
|
0.00001
|
NM_000393.5(COL5A2):c.2308G>T (p.Ala770Ser)
|
rs1244308550
|
0.00001
|
NM_000393.5(COL5A2):c.3836T>C (p.Ile1279Thr)
|
rs752658223
|
0.00001
|
NM_000431.4(MVK):c.*550G>A
|
rs886048936
|
0.00001
|
NM_000431.4(MVK):c.1116C>T (p.Ile372=)
|
rs368066027
|
0.00001
|
NM_000431.4(MVK):c.1163G>A (p.Arg388Gln)
|
rs886048934
|
0.00001
|
NM_000431.4(MVK):c.1174G>A (p.Ala392Thr)
|
rs1314369808
|
0.00001
|
NM_000431.4(MVK):c.118C>T (p.Arg40Trp)
|
rs1055952433
|
0.00001
|
NM_000431.4(MVK):c.166A>G (p.Ile56Val)
|
rs149095003
|
0.00001
|
NM_000431.4(MVK):c.188A>T (p.Asp63Val)
|
rs1165875328
|
0.00001
|
NM_000431.4(MVK):c.197G>A (p.Arg66Lys)
|
rs757565098
|
0.00001
|
NM_000431.4(MVK):c.210G>T (p.Leu70=)
|
rs199811011
|
0.00001
|
NM_000431.4(MVK):c.227A>G (p.Glu76Gly)
|
rs1593015412
|
0.00001
|
NM_000431.4(MVK):c.313G>A (p.Glu105Lys)
|
rs1458440007
|
0.00001
|
NM_000431.4(MVK):c.372-3C>T
|
rs104895354
|
0.00001
|
NM_000431.4(MVK):c.423G>A (p.Ala141=)
|
rs756068705
|
0.00001
|
NM_000431.4(MVK):c.483C>T (p.Cys161=)
|
rs777886684
|
0.00001
|
NM_000431.4(MVK):c.484G>A (p.Glu162Lys)
|
rs200457031
|
0.00001
|
NM_000431.4(MVK):c.527+13C>A
|
rs199670546
|
0.00001
|
NM_000431.4(MVK):c.527+8T>C
|
rs377547988
|
0.00001
|
NM_000431.4(MVK):c.565G>T (p.Ala189Ser)
|
rs1403009347
|
0.00001
|
NM_000431.4(MVK):c.592G>C (p.Gly198Arg)
|
rs202172198
|
0.00001
|
NM_000431.4(MVK):c.631+3A>G
|
rs1178525841
|
0.00001
|
NM_000431.4(MVK):c.755A>G (p.Asn252Ser)
|
rs112324119
|
0.00001
|
NM_000431.4(MVK):c.886-2dup
|
rs1332047942
|
0.00001
|
NM_000431.4(MVK):c.89C>T (p.Ala30Val)
|
rs769000203
|
0.00001
|
NM_000431.4(MVK):c.961G>A (p.Val321Met)
|
rs779869991
|
0.00001
|
NM_000435.3(NOTCH3):c.119C>T (p.Ala40Val)
|
rs766139231
|
0.00001
|
NM_000435.3(NOTCH3):c.1783G>A (p.Gly595Ser)
|
rs770146452
|
0.00001
|
NM_000435.3(NOTCH3):c.214G>A (p.Val72Met)
|
rs2046938247
|
0.00001
|
NM_000516.7(GNAS):c.367G>A (p.Glu123Lys)
|
rs769546153
|
0.00001
|
NM_000516.7(GNAS):c.683G>A (p.Arg228His)
|
rs1317816474
|
0.00001
|
NM_000546.6(TP53):c.1000G>C (p.Gly334Arg)
|
rs730882028
|
0.00001
|
NM_000546.6(TP53):c.461G>A (p.Gly154Asp)
|
rs762846821
|
0.00001
|
NM_000546.6(TP53):c.760A>G (p.Ile254Val)
|
rs746601313
|
0.00001
|
NM_000628.5(IL10RB):c.*519A>G
|
rs1339192870
|
0.00001
|
NM_000628.5(IL10RB):c.122A>G (p.Glu41Gly)
|
rs753650110
|
0.00001
|
NM_000628.5(IL10RB):c.311C>T (p.Thr104Ile)
|
rs1989178743
|
0.00001
|
NM_000628.5(IL10RB):c.421G>A (p.Glu141Lys)
|
rs387907326
|
0.00001
|
NM_000628.5(IL10RB):c.446A>G (p.Tyr149Cys)
|
rs1186719026
|
0.00001
|
NM_000628.5(IL10RB):c.610T>C (p.Trp204Arg)
|
rs1989311645
|
0.00001
|
NM_000628.5(IL10RB):c.641A>G (p.His214Arg)
|
rs949664612
|
0.00001
|
NM_000628.5(IL10RB):c.647-14A>C
|
rs45526732
|
0.00001
|
NM_000628.5(IL10RB):c.650C>T (p.Thr217Met)
|
rs746250523
|
0.00001
|
NM_000628.5(IL10RB):c.673G>A (p.Val225Ile)
|
rs765506701
|
0.00001
|
NM_000628.5(IL10RB):c.707T>C (p.Leu236Pro)
|
rs752218442
|
0.00001
|
NM_000628.5(IL10RB):c.804G>A (p.Glu268=)
|
rs767451280
|
0.00001
|
NM_000628.5(IL10RB):c.889G>A (p.Val297Ile)
|
rs911014085
|
0.00001
|
NM_000628.5(IL10RB):c.913G>A (p.Gly305Ser)
|
rs376143910
|
0.00001
|
NM_001032283.3(TMPO):c.133C>T (p.Leu45Phe)
|
rs1490105931
|
0.00001
|
NM_001032283.3(TMPO):c.154C>T (p.Pro52Ser)
|
rs767796798
|
0.00001
|
NM_001032283.3(TMPO):c.176G>C (p.Ser59Thr)
|
rs987636941
|
0.00001
|
NM_001032283.3(TMPO):c.263G>A (p.Arg88Gln)
|
rs774853700
|
0.00001
|
NM_001032283.3(TMPO):c.289A>G (p.Lys97Glu)
|
rs778356103
|
0.00001
|
NM_001032283.3(TMPO):c.296C>G (p.Thr99Ser)
|
rs529351559
|
0.00001
|
NM_001032283.3(TMPO):c.382G>A (p.Gly128Arg)
|
rs200943582
|
0.00001
|
NM_001032283.3(TMPO):c.392C>G (p.Pro131Arg)
|
rs1001615865
|
0.00001
|
NM_001032283.3(TMPO):c.476C>T (p.Ser159Phe)
|
rs183244086
|
0.00001
|
NM_001032283.3(TMPO):c.517A>G (p.Arg173Gly)
|
rs1430201856
|
0.00001
|
NM_001032283.3(TMPO):c.565+1053A>G
|
rs769778970
|
0.00001
|
NM_001032283.3(TMPO):c.565+1084T>A
|
rs767247716
|
0.00001
|
NM_001032283.3(TMPO):c.565+1104A>C
|
rs764732034
|
0.00001
|
NM_001032283.3(TMPO):c.565+1128G>A
|
rs770791830
|
0.00001
|
NM_001032283.3(TMPO):c.565+1137G>A
|
rs375903462
|
0.00001
|
NM_001032283.3(TMPO):c.565+1155A>G
|
rs1235766643
|
0.00001
|
NM_001032283.3(TMPO):c.565+1165G>C
|
rs191275106
|
0.00001
|
NM_001032283.3(TMPO):c.565+1183C>T
|
rs762263378
|
0.00001
|
NM_001032283.3(TMPO):c.565+1275A>G
|
rs763320036
|
0.00001
|
NM_001032283.3(TMPO):c.565+1282T>C
|
rs886049912
|
0.00001
|
NM_001032283.3(TMPO):c.565+1297C>T
|
rs560525921
|
0.00001
|
NM_001032283.3(TMPO):c.565+1305T>G
|
rs201730568
|
0.00001
|
NM_001032283.3(TMPO):c.565+1318A>G
|
rs754640974
|
0.00001
|
NM_001032283.3(TMPO):c.565+1327T>C
|
rs1325196944
|
0.00001
|
NM_001032283.3(TMPO):c.565+1384A>G
|
rs766401550
|
0.00001
|
NM_001032283.3(TMPO):c.565+1390A>G
|
rs780719278
|
0.00001
|
NM_001032283.3(TMPO):c.565+1471C>T
|
rs779303657
|
0.00001
|
NM_001032283.3(TMPO):c.565+1485A>G
|
rs730880229
|
0.00001
|
NM_001032283.3(TMPO):c.565+1567C>T
|
rs202166461
|
0.00001
|
NM_001032283.3(TMPO):c.565+1576T>C
|
rs747232440
|
0.00001
|
NM_001032283.3(TMPO):c.565+1623C>G
|
rs902009254
|
0.00001
|
NM_001032283.3(TMPO):c.565+1626C>G
|
rs1555203864
|
0.00001
|
NM_001032283.3(TMPO):c.565+1648A>G
|
rs1057524856
|
0.00001
|
NM_001032283.3(TMPO):c.565+1654T>C
|
rs753527126
|
0.00001
|
NM_001032283.3(TMPO):c.565+1662T>G
|
rs200367787
|
0.00001
|
NM_001032283.3(TMPO):c.565+1805A>C
|
rs767027388
|
0.00001
|
NM_001032283.3(TMPO):c.565+1809G>A
|
rs1450805694
|
0.00001
|
NM_001032283.3(TMPO):c.565+1911A>G
|
rs754188509
|
0.00001
|
NM_001032283.3(TMPO):c.565+1949C>G
|
rs750502531
|
0.00001
|
NM_001032283.3(TMPO):c.565+1968G>A
|
rs1051007448
|
0.00001
|
NM_001032283.3(TMPO):c.565+2079C>T
|
rs144269053
|
0.00001
|
NM_001032283.3(TMPO):c.565+2092C>A
|
rs563175204
|
0.00001
|
NM_001032283.3(TMPO):c.565+2236C>G
|
rs746645331
|
0.00001
|
NM_001032283.3(TMPO):c.565+2260C>T
|
rs367769644
|
0.00001
|
NM_001032283.3(TMPO):c.565+2331A>G
|
rs1319585944
|
0.00001
|
NM_001032283.3(TMPO):c.565+2347T>C
|
rs1450811229
|
0.00001
|
NM_001032283.3(TMPO):c.565+2367C>T
|
rs772424658
|
0.00001
|
NM_001032283.3(TMPO):c.565+2409T>G
|
rs759247844
|
0.00001
|
NM_001032283.3(TMPO):c.565+2431C>G
|
rs1435432542
|
0.00001
|
NM_001032283.3(TMPO):c.565+2488G>A
|
rs779219922
|
0.00001
|
NM_001032283.3(TMPO):c.565+999C>T
|
rs138259721
|
0.00001
|
NM_001042492.3(NF1):c.-148C>A
|
rs886052792
|
0.00001
|
NM_001042492.3(NF1):c.1130T>C (p.Ile377Thr)
|
rs878853863
|
0.00001
|
NM_001042492.3(NF1):c.1219C>T (p.His407Tyr)
|
rs1156614886
|
0.00001
|
NM_001042492.3(NF1):c.1264G>A (p.Ala422Thr)
|
rs786202145
|
0.00001
|
NM_001042492.3(NF1):c.1319G>A (p.Arg440Gln)
|
rs1466678870
|
0.00001
|
NM_001042492.3(NF1):c.1662G>T (p.Gln554His)
|
rs147594815
|
0.00001
|
NM_001042492.3(NF1):c.1801C>T (p.Arg601Trp)
|
rs587782592
|
0.00001
|
NM_001042492.3(NF1):c.1849G>A (p.Ala617Thr)
|
rs1131691135
|
0.00001
|
NM_001042492.3(NF1):c.1907C>G (p.Ser636Cys)
|
rs780412565
|
0.00001
|
NM_001042492.3(NF1):c.200A>G (p.Asn67Ser)
|
rs375038808
|
0.00001
|
NM_001042492.3(NF1):c.2054C>G (p.Thr685Ser)
|
rs876658190
|
0.00001
|
NM_001042492.3(NF1):c.2159G>A (p.Arg720Gln)
|
rs1350468182
|
0.00001
|
NM_001042492.3(NF1):c.2251+5A>G
|
rs786201934
|
0.00001
|
NM_001042492.3(NF1):c.2293C>T (p.Arg765Cys)
|
rs1383770460
|
0.00001
|
NM_001042492.3(NF1):c.2326-9T>A
|
rs181838967
|
0.00001
|
NM_001042492.3(NF1):c.2345C>G (p.Ala782Gly)
|
rs1203924788
|
0.00001
|
NM_001042492.3(NF1):c.2434A>C (p.Ile812Leu)
|
rs587781899
|
0.00001
|
NM_001042492.3(NF1):c.2476A>C (p.Ile826Leu)
|
rs767069721
|
0.00001
|
NM_001042492.3(NF1):c.2573C>G (p.Ser858Cys)
|
rs369493270
|
0.00001
|
NM_001042492.3(NF1):c.2624G>T (p.Gly875Val)
|
rs1060500361
|
0.00001
|
NM_001042492.3(NF1):c.2643G>A (p.Met881Ile)
|
rs376666221
|
0.00001
|
NM_001042492.3(NF1):c.2659G>A (p.Ala887Thr)
|
rs1251621684
|
0.00001
|
NM_001042492.3(NF1):c.2740C>T (p.Arg914Trp)
|
rs765848298
|
0.00001
|
NM_001042492.3(NF1):c.2794A>G (p.Met932Val)
|
rs886052800
|
0.00001
|
NM_001042492.3(NF1):c.2795T>C (p.Met932Thr)
|
rs876659779
|
0.00001
|
NM_001042492.3(NF1):c.2803A>C (p.Asn935His)
|
rs786201823
|
0.00001
|
NM_001042492.3(NF1):c.2825G>A (p.Ser942Asn)
|
rs1555614350
|
0.00001
|
NM_001042492.3(NF1):c.3013A>G (p.Met1005Val)
|
rs1555614502
|
0.00001
|
NM_001042492.3(NF1):c.3197+3A>G
|
rs1359512152
|
0.00001
|
NM_001042492.3(NF1):c.3352A>G (p.Ser1118Gly)
|
rs201645318
|
0.00001
|
NM_001042492.3(NF1):c.3359T>C (p.Val1120Ala)
|
rs751571517
|
0.00001
|
NM_001042492.3(NF1):c.348A>T (p.Glu116Asp)
|
rs1231174547
|
0.00001
|
NM_001042492.3(NF1):c.3490T>G (p.Ser1164Ala)
|
rs750303863
|
0.00001
|
NM_001042492.3(NF1):c.3527G>T (p.Arg1176Ile)
|
rs1227027709
|
0.00001
|
NM_001042492.3(NF1):c.3694C>T (p.Pro1232Ser)
|
rs1482085668
|
0.00001
|
NM_001042492.3(NF1):c.3749G>A (p.Arg1250Gln)
|
rs199474765
|
0.00001
|
NM_001042492.3(NF1):c.374G>A (p.Arg125His)
|
rs149003051
|
0.00001
|
NM_001042492.3(NF1):c.3778A>G (p.Met1260Val)
|
rs1264981144
|
0.00001
|
NM_001042492.3(NF1):c.3811A>G (p.Met1271Val)
|
rs746583007
|
0.00001
|
NM_001042492.3(NF1):c.3976T>A (p.Leu1326Ile)
|
rs765957571
|
0.00001
|
NM_001042492.3(NF1):c.4055G>C (p.Ser1352Thr)
|
rs876660908
|
0.00001
|
NM_001042492.3(NF1):c.4187G>A (p.Arg1396His)
|
rs368685980
|
0.00001
|
NM_001042492.3(NF1):c.4201A>T (p.Ser1401Cys)
|
rs1060500310
|
0.00001
|
NM_001042492.3(NF1):c.4306G>A (p.Glu1436Lys)
|
rs876660428
|
0.00001
|
NM_001042492.3(NF1):c.4385G>A (p.Arg1462Gln)
|
rs370852681
|
0.00001
|
NM_001042492.3(NF1):c.4409G>A (p.Ser1470Asn)
|
rs876660093
|
0.00001
|
NM_001042492.3(NF1):c.4504G>A (p.Gly1502Ser)
|
rs876659607
|
0.00001
|
NM_001042492.3(NF1):c.451A>C (p.Asn151His)
|
rs769391944
|
0.00001
|
NM_001042492.3(NF1):c.452A>G (p.Asn151Ser)
|
rs1567817981
|
0.00001
|
NM_001042492.3(NF1):c.4724+3A>G
|
rs781147524
|
0.00001
|
NM_001042492.3(NF1):c.4766C>T (p.Thr1589Met)
|
rs185660700
|
0.00001
|
NM_001042492.3(NF1):c.4813A>G (p.Ile1605Val)
|
rs199474766
|
0.00001
|
NM_001042492.3(NF1):c.4836G>A (p.Arg1612=)
|
rs1555533268
|
0.00001
|
NM_001042492.3(NF1):c.4859G>A (p.Gly1620Asp)
|
rs587782213
|
0.00001
|
NM_001042492.3(NF1):c.5098C>T (p.Leu1700Phe)
|
rs775786295
|
0.00001
|
NM_001042492.3(NF1):c.5344A>G (p.Ile1782Val)
|
rs1160436761
|
0.00001
|
NM_001042492.3(NF1):c.5351A>T (p.Tyr1784Phe)
|
rs1060500280
|
0.00001
|
NM_001042492.3(NF1):c.5578C>G (p.Leu1860Val)
|
rs746689492
|
0.00001
|
NM_001042492.3(NF1):c.575G>A (p.Arg192Gln)
|
rs587781670
|
0.00001
|
NM_001042492.3(NF1):c.5768C>T (p.Thr1923Met)
|
rs786203824
|
0.00001
|
NM_001042492.3(NF1):c.6322A>T (p.Thr2108Ser)
|
rs1024333224
|
0.00001
|
NM_001042492.3(NF1):c.6646T>A (p.Cys2216Ser)
|
rs757736155
|
0.00001
|
NM_001042492.3(NF1):c.6665C>T (p.Thr2222Met)
|
rs369803831
|
0.00001
|
NM_001042492.3(NF1):c.6773G>A (p.Arg2258Gln)
|
rs786202030
|
0.00001
|
NM_001042492.3(NF1):c.6936C>G (p.His2312Gln)
|
rs1567618937
|
0.00001
|
NM_001042492.3(NF1):c.7009C>T (p.Leu2337Phe)
|
rs367734104
|
0.00001
|
NM_001042492.3(NF1):c.7039A>G (p.Ser2347Gly)
|
rs1060500318
|
0.00001
|
NM_001042492.3(NF1):c.703T>C (p.Tyr235His)
|
rs864622465
|
0.00001
|
NM_001042492.3(NF1):c.7045C>T (p.Arg2349Cys)
|
rs56013763
|
0.00001
|
NM_001042492.3(NF1):c.7213A>G (p.Ile2405Val)
|
rs565708398
|
0.00001
|
NM_001042492.3(NF1):c.7370A>G (p.His2457Arg)
|
rs863224664
|
0.00001
|
NM_001042492.3(NF1):c.7396A>G (p.Ile2466Val)
|
rs748027595
|
0.00001
|
NM_001042492.3(NF1):c.7432A>G (p.Ile2478Val)
|
rs759307070
|
0.00001
|
NM_001042492.3(NF1):c.7439A>G (p.His2480Arg)
|
rs371151718
|
0.00001
|
NM_001042492.3(NF1):c.7456A>G (p.Arg2486Gly)
|
rs752162999
|
0.00001
|
NM_001042492.3(NF1):c.7487C>G (p.Ser2496Cys)
|
rs371773406
|
0.00001
|
NM_001042492.3(NF1):c.7496G>T (p.Gly2499Val)
|
rs375176282
|
0.00001
|
NM_001042492.3(NF1):c.7534G>A (p.Gly2512Ser)
|
rs766496842
|
0.00001
|
NM_001042492.3(NF1):c.7585C>T (p.Pro2529Ser)
|
rs1555536370
|
0.00001
|
NM_001042492.3(NF1):c.7643T>G (p.Ile2548Arg)
|
rs864622266
|
0.00001
|
NM_001042492.3(NF1):c.7729T>C (p.Tyr2577His)
|
rs778143477
|
0.00001
|
NM_001042492.3(NF1):c.7780C>T (p.Arg2594Cys)
|
rs372787215
|
0.00001
|
NM_001042492.3(NF1):c.7850C>T (p.Ala2617Val)
|
rs375990655
|
0.00001
|
NM_001042492.3(NF1):c.7876C>G (p.Leu2626Val)
|
rs1555536748
|
0.00001
|
NM_001042492.3(NF1):c.7889C>G (p.Thr2630Ser)
|
rs1283946778
|
0.00001
|
NM_001042492.3(NF1):c.7891A>G (p.Thr2631Ala)
|
rs199474793
|
0.00001
|
NM_001042492.3(NF1):c.8150C>T (p.Pro2717Leu)
|
rs778799019
|
0.00001
|
NM_001042492.3(NF1):c.8238T>G (p.Ile2746Met)
|
rs779789452
|
0.00001
|
NM_001042492.3(NF1):c.8446G>A (p.Gly2816Arg)
|
rs778233452
|
0.00001
|
NM_001042492.3(NF1):c.845A>G (p.Gln282Arg)
|
rs779034900
|
0.00001
|
NM_001042492.3(NF1):c.890A>G (p.Lys297Arg)
|
rs1219929525
|
0.00001
|
NM_001042492.3(NF1):c.964A>G (p.Ile322Val)
|
rs755007999
|
0.00001
|
NM_001065.4(TNFRSF1A):c.*148C>T
|
rs543718521
|
0.00001
|
NM_001065.4(TNFRSF1A):c.*38C>T
|
rs200297634
|
0.00001
|
NM_001065.4(TNFRSF1A):c.1000A>G (p.Ile334Val)
|
rs1178535061
|
0.00001
|
NM_001065.4(TNFRSF1A):c.1008C>A (p.Asn336Lys)
|
rs745458338
|
0.00001
|
NM_001065.4(TNFRSF1A):c.1058-8C>G
|
rs764636915
|
0.00001
|
NM_001065.4(TNFRSF1A):c.1058-9T>G
|
rs899753301
|
0.00001
|
NM_001065.4(TNFRSF1A):c.1099C>T (p.Pro367Ser)
|
rs1490936362
|
0.00001
|
NM_001065.4(TNFRSF1A):c.1226G>T (p.Arg409Leu)
|
rs561674960
|
0.00001
|
NM_001065.4(TNFRSF1A):c.1238G>A (p.Arg413Gln)
|
rs1310241012
|
0.00001
|
NM_001065.4(TNFRSF1A):c.1256A>G (p.Glu419Gly)
|
rs1454639907
|
0.00001
|
NM_001065.4(TNFRSF1A):c.12C>T (p.Ser4=)
|
rs199780452
|
0.00001
|
NM_001065.4(TNFRSF1A):c.1307A>G (p.Asp436Gly)
|
rs1243645113
|
0.00001
|
NM_001065.4(TNFRSF1A):c.1312G>C (p.Glu438Gln)
|
rs745814061
|
0.00001
|
NM_001065.4(TNFRSF1A):c.1325G>A (p.Cys442Tyr)
|
rs770656568
|
0.00001
|
NM_001065.4(TNFRSF1A):c.159A>G (p.Gln53=)
|
rs773708644
|
0.00001
|
NM_001065.4(TNFRSF1A):c.16G>A (p.Val6Met)
|
rs772424047
|
0.00001
|
NM_001065.4(TNFRSF1A):c.269C>T (p.Thr90Ile)
|
rs34751757
|
0.00001
|
NM_001065.4(TNFRSF1A):c.283C>T (p.His95Tyr)
|
rs104895290
|
0.00001
|
NM_001065.4(TNFRSF1A):c.323-3C>G
|
rs1328399119
|
0.00001
|
NM_001065.4(TNFRSF1A):c.344C>T (p.Ser115Phe)
|
rs748818440
|
0.00001
|
NM_001065.4(TNFRSF1A):c.370G>A (p.Val124Met)
|
rs104895278
|
0.00001
|
NM_001065.4(TNFRSF1A):c.382A>G (p.Arg128Gly)
|
rs1592047526
|
0.00001
|
NM_001065.4(TNFRSF1A):c.384G>A (p.Arg128=)
|
rs747164054
|
0.00001
|
NM_001065.4(TNFRSF1A):c.398G>A (p.Arg133Gln)
|
rs104895257
|
0.00001
|
NM_001065.4(TNFRSF1A):c.40-5C>G
|
rs757941488
|
0.00001
|
NM_001065.4(TNFRSF1A):c.455G>C (p.Gly152Ala)
|
rs762635729
|
0.00001
|
NM_001065.4(TNFRSF1A):c.51G>A (p.Glu17=)
|
rs201015273
|
0.00001
|
NM_001065.4(TNFRSF1A):c.59T>C (p.Val20Ala)
|
rs1254356365
|
0.00001
|
NM_001065.4(TNFRSF1A):c.62G>C (p.Gly21Ala)
|
rs1180778404
|
0.00001
|
NM_001065.4(TNFRSF1A):c.687C>A (p.Phe229Leu)
|
rs766811013
|
0.00001
|
NM_001065.4(TNFRSF1A):c.753G>A (p.Ser251=)
|
rs201358363
|
0.00001
|
NM_001065.4(TNFRSF1A):c.80T>A (p.Val27Asp)
|
rs753595201
|
0.00001
|
NM_001065.4(TNFRSF1A):c.810C>A (p.Asn270Lys)
|
rs773534506
|
0.00001
|
NM_001065.4(TNFRSF1A):c.811C>T (p.Pro271Ser)
|
rs202207247
|
0.00001
|
NM_001065.4(TNFRSF1A):c.855C>G (p.Phe285Leu)
|
rs760573195
|
0.00001
|
NM_001065.4(TNFRSF1A):c.949C>T (p.Pro317Ser)
|
rs201619736
|
0.00001
|
NM_001065.4(TNFRSF1A):c.977C>A (p.Ala326Glu)
|
rs1183554136
|
0.00001
|
NM_001065.4(TNFRSF1A):c.997C>T (p.Pro333Ser)
|
rs1338161780
|
0.00001
|
NM_001083116.3(PRF1):c.1001G>A (p.Gly334Asp)
|
rs780544163
|
0.00001
|
NM_001083116.3(PRF1):c.1226C>T (p.Pro409Leu)
|
rs1278094424
|
0.00001
|
NM_001083116.3(PRF1):c.248G>A (p.Gly83Asp)
|
rs769928225
|
0.00001
|
NM_001083116.3(PRF1):c.374T>C (p.Ile125Thr)
|
rs763389567
|
0.00001
|
NM_001110556.2(FLNA):c.4843C>T (p.Arg1615Cys)
|
rs1557177091
|
0.00001
|
NM_001111.5(ADAR):c.*1454C>G
|
rs967668970
|
0.00001
|
NM_001111.5(ADAR):c.*1871A>G
|
rs1228582826
|
0.00001
|
NM_001111.5(ADAR):c.*479T>C
|
rs185835529
|
0.00001
|
NM_001111.5(ADAR):c.*527A>G
|
rs886045330
|
0.00001
|
NM_001111.5(ADAR):c.*812C>T
|
rs747246150
|
0.00001
|
NM_001111.5(ADAR):c.*825G>A
|
rs145743236
|
0.00001
|
NM_001111.5(ADAR):c.-71T>C
|
rs886045346
|
0.00001
|
NM_001111.5(ADAR):c.1006G>T (p.Asp336Tyr)
|
rs763575197
|
0.00001
|
NM_001111.5(ADAR):c.1024G>T (p.Asp342Tyr)
|
rs750785381
|
0.00001
|
NM_001111.5(ADAR):c.1049C>T (p.Pro350Leu)
|
rs763695856
|
0.00001
|
NM_001111.5(ADAR):c.1062T>G (p.His354Gln)
|
rs767103774
|
0.00001
|
NM_001111.5(ADAR):c.1097A>G (p.Lys366Arg)
|
rs770795921
|
0.00001
|
NM_001111.5(ADAR):c.1189T>A (p.Ser397Thr)
|
rs1190740301
|
0.00001
|
NM_001111.5(ADAR):c.1207A>G (p.Met403Val)
|
rs762748379
|
0.00001
|
NM_001111.5(ADAR):c.1315A>G (p.Asn439Asp)
|
rs1040011158
|
0.00001
|
NM_001111.5(ADAR):c.1421G>A (p.Arg474Gln)
|
rs759679549
|
0.00001
|
NM_001111.5(ADAR):c.1457G>T (p.Gly486Val)
|
rs1275238356
|
0.00001
|
NM_001111.5(ADAR):c.1556G>A (p.Cys519Tyr)
|
rs1404371210
|
0.00001
|
NM_001111.5(ADAR):c.1732A>G (p.Ser578Gly)
|
rs374014885
|
0.00001
|
NM_001111.5(ADAR):c.1843C>T (p.Pro615Ser)
|
rs1179154225
|
0.00001
|
NM_001111.5(ADAR):c.1846G>A (p.Val616Ile)
|
rs570647049
|
0.00001
|
NM_001111.5(ADAR):c.1898G>A (p.Arg633His)
|
rs748307559
|
0.00001
|
NM_001111.5(ADAR):c.1960G>A (p.Ala654Thr)
|
rs1203975739
|
0.00001
|
NM_001111.5(ADAR):c.196C>G (p.Pro66Ala)
|
rs1314856456
|
0.00001
|
NM_001111.5(ADAR):c.200C>T (p.Ser67Phe)
|
rs1367119670
|
0.00001
|
NM_001111.5(ADAR):c.2042A>G (p.His681Arg)
|
rs762924757
|
0.00001
|
NM_001111.5(ADAR):c.2077C>G (p.Gln693Glu)
|
rs121912423
|
0.00001
|
NM_001111.5(ADAR):c.2140A>G (p.Arg714Gly)
|
rs1697539238
|
0.00001
|
NM_001111.5(ADAR):c.2152G>A (p.Glu718Lys)
|
rs1280463566
|
0.00001
|
NM_001111.5(ADAR):c.215G>A (p.Arg72Gln)
|
rs200754665
|
0.00001
|
NM_001111.5(ADAR):c.2173A>G (p.Thr725Ala)
|
rs1697536698
|
0.00001
|
NM_001111.5(ADAR):c.2196G>A (p.Leu732=)
|
rs939759749
|
0.00001
|
NM_001111.5(ADAR):c.2242G>A (p.Asp748Asn)
|
rs754538298
|
0.00001
|
NM_001111.5(ADAR):c.2263G>A (p.Glu755Lys)
|
rs758150130
|
0.00001
|
NM_001111.5(ADAR):c.2283A>G (p.Gln761=)
|
rs186310208
|
0.00001
|
NM_001111.5(ADAR):c.2320G>A (p.Ala774Thr)
|
rs368419418
|
0.00001
|
NM_001111.5(ADAR):c.2368C>T (p.Arg790Cys)
|
rs1429411421
|
0.00001
|
NM_001111.5(ADAR):c.2415A>G (p.Thr805=)
|
rs1298874562
|
0.00001
|
NM_001111.5(ADAR):c.2548C>T (p.Arg850Trp)
|
rs762568334
|
0.00001
|
NM_001111.5(ADAR):c.2549G>A (p.Arg850Gln)
|
rs750048114
|
0.00001
|
NM_001111.5(ADAR):c.2593G>A (p.Gly865Ser)
|
rs775500671
|
0.00001
|
NM_001111.5(ADAR):c.2632T>C (p.Ser878Pro)
|
rs1261780777
|
0.00001
|
NM_001111.5(ADAR):c.2693C>A (p.Ser898Tyr)
|
rs1424630296
|
0.00001
|
NM_001111.5(ADAR):c.2804C>T (p.Ala935Val)
|
rs767879893
|
0.00001
|
NM_001111.5(ADAR):c.2886-5T>C
|
rs201213195
|
0.00001
|
NM_001111.5(ADAR):c.2920A>G (p.Lys974Glu)
|
rs886045339
|
0.00001
|
NM_001111.5(ADAR):c.2929A>C (p.Ser977Arg)
|
rs766544371
|
0.00001
|
NM_001111.5(ADAR):c.2932G>A (p.Asp978Asn)
|
rs1288413218
|
0.00001
|
NM_001111.5(ADAR):c.2935C>T (p.Arg979Cys)
|
rs369346345
|
0.00001
|
NM_001111.5(ADAR):c.2960G>A (p.Arg987His)
|
rs760200045
|
0.00001
|
NM_001111.5(ADAR):c.302G>C (p.Ser101Thr)
|
rs763972905
|
0.00001
|
NM_001111.5(ADAR):c.3040G>C (p.Glu1014Gln)
|
rs965662260
|
0.00001
|
NM_001111.5(ADAR):c.307G>C (p.Gly103Arg)
|
rs1248454035
|
0.00001
|
NM_001111.5(ADAR):c.3095G>A (p.Arg1032His)
|
rs773129591
|
0.00001
|
NM_001111.5(ADAR):c.31G>A (p.Gly11Arg)
|
rs747039563
|
0.00001
|
NM_001111.5(ADAR):c.3298A>G (p.Ile1100Val)
|
rs778334248
|
0.00001
|
NM_001111.5(ADAR):c.3305A>G (p.Asn1102Ser)
|
rs1321911338
|
0.00001
|
NM_001111.5(ADAR):c.340C>T (p.Arg114Cys)
|
rs200286478
|
0.00001
|
NM_001111.5(ADAR):c.3433A>G (p.Thr1145Ala)
|
rs200084726
|
0.00001
|
NM_001111.5(ADAR):c.3443+3A>G
|
rs746915200
|
0.00001
|
NM_001111.5(ADAR):c.3449G>A (p.Arg1150Gln)
|
rs779950072
|
0.00001
|
NM_001111.5(ADAR):c.3460T>C (p.Ser1154Pro)
|
rs887707722
|
0.00001
|
NM_001111.5(ADAR):c.3514C>T (p.Arg1172Cys)
|
rs752914135
|
0.00001
|
NM_001111.5(ADAR):c.3521G>A (p.Arg1174His)
|
rs866441514
|
0.00001
|
NM_001111.5(ADAR):c.3568C>T (p.Arg1190Cys)
|
rs979532140
|
0.00001
|
NM_001111.5(ADAR):c.3645C>G (p.Pro1215=)
|
rs886045338
|
0.00001
|
NM_001111.5(ADAR):c.412G>A (p.Asp138Asn)
|
rs1232376686
|
0.00001
|
NM_001111.5(ADAR):c.415C>G (p.Gln139Glu)
|
rs1463382499
|
0.00001
|
NM_001111.5(ADAR):c.419A>C (p.Glu140Ala)
|
rs753539550
|
0.00001
|
NM_001111.5(ADAR):c.434A>G (p.Lys145Arg)
|
rs763767761
|
0.00001
|
NM_001111.5(ADAR):c.487G>A (p.Gly163Arg)
|
rs762094056
|
0.00001
|
NM_001111.5(ADAR):c.557A>G (p.Gln186Arg)
|
rs375311213
|
0.00001
|
NM_001111.5(ADAR):c.55G>A (p.Gly19Ser)
|
rs746103046
|
0.00001
|
NM_001111.5(ADAR):c.650G>A (p.Ser217Asn)
|
rs199906332
|
0.00001
|
NM_001111.5(ADAR):c.661C>T (p.Pro221Ser)
|
rs752904311
|
0.00001
|
NM_001111.5(ADAR):c.686C>T (p.Pro229Leu)
|
rs1338472867
|
0.00001
|
NM_001111.5(ADAR):c.691G>A (p.Asp231Asn)
|
rs772751856
|
0.00001
|
NM_001111.5(ADAR):c.722T>A (p.Leu241His)
|
rs1472127685
|
0.00001
|
NM_001111.5(ADAR):c.754G>T (p.Ala252Ser)
|
rs1354088100
|
0.00001
|
NM_001111.5(ADAR):c.820C>A (p.Pro274Thr)
|
rs779977985
|
0.00001
|
NM_001111.5(ADAR):c.869C>G (p.Pro290Arg)
|
rs1284913091
|
0.00001
|
NM_001111.5(ADAR):c.944C>G (p.Ala315Gly)
|
rs761347223
|
0.00001
|
NM_001111.5(ADAR):c.962A>G (p.Asn321Ser)
|
rs760376737
|
0.00001
|
NM_001111.5(ADAR):c.973A>G (p.Thr325Ala)
|
rs771889800
|
0.00001
|
NM_001111.5(ADAR):c.989T>C (p.Ile330Thr)
|
rs770793371
|
0.00001
|
NM_001122681.2(SH3BP2):c.*3106A>T
|
rs886059369
|
0.00001
|
NM_001122681.2(SH3BP2):c.*3111C>G
|
rs886059370
|
0.00001
|
NM_001122681.2(SH3BP2):c.*3667G>A
|
rs886059377
|
0.00001
|
NM_001122681.2(SH3BP2):c.*88T>C
|
rs886059358
|
0.00001
|
NM_001122681.2(SH3BP2):c.-4-1590C>T
|
rs372664062
|
0.00001
|
NM_001122681.2(SH3BP2):c.1007C>T (p.Ser336Phe)
|
rs773105147
|
0.00001
|
NM_001122681.2(SH3BP2):c.1052C>G (p.Pro351Arg)
|
rs1724890588
|
0.00001
|
NM_001122681.2(SH3BP2):c.1097A>G (p.Asp366Gly)
|
rs1453717053
|
0.00001
|
NM_001122681.2(SH3BP2):c.1103C>A (p.Pro368Gln)
|
rs781072584
|
0.00001
|
NM_001122681.2(SH3BP2):c.1160C>T (p.Ala387Val)
|
rs372762732
|
0.00001
|
NM_001122681.2(SH3BP2):c.1234C>T (p.His412Tyr)
|
rs764213233
|
0.00001
|
NM_001122681.2(SH3BP2):c.127C>G (p.Leu43Val)
|
rs368574144
|
0.00001
|
NM_001122681.2(SH3BP2):c.1292C>T (p.Pro431Leu)
|
rs754582989
|
0.00001
|
NM_001122681.2(SH3BP2):c.1345_1347del (p.Glu449del)
|
rs1724993599
|
0.00001
|
NM_001122681.2(SH3BP2):c.1382C>T (p.Thr461Ile)
|
rs773282036
|
0.00001
|
NM_001122681.2(SH3BP2):c.1396G>A (p.Glu466Lys)
|
rs946632787
|
0.00001
|
NM_001122681.2(SH3BP2):c.1426C>T (p.Pro476Ser)
|
rs776527305
|
0.00001
|
NM_001122681.2(SH3BP2):c.1430G>A (p.Arg477Gln)
|
rs762558421
|
0.00001
|
NM_001122681.2(SH3BP2):c.1457G>A (p.Cys486Tyr)
|
rs1725036218
|
0.00001
|
NM_001122681.2(SH3BP2):c.1488G>A (p.Lys496=)
|
rs748012203
|
0.00001
|
NM_001122681.2(SH3BP2):c.1496T>G (p.Val499Gly)
|
rs751799854
|
0.00001
|
NM_001122681.2(SH3BP2):c.1574A>G (p.Glu525Gly)
|
rs1172008192
|
0.00001
|
NM_001122681.2(SH3BP2):c.160C>A (p.His54Asn)
|
rs765023340
|
0.00001
|
NM_001122681.2(SH3BP2):c.166C>T (p.Arg56Cys)
|
rs758096402
|
0.00001
|
NM_001122681.2(SH3BP2):c.1675G>T (p.Gly559Trp)
|
rs776809624
|
0.00001
|
NM_001122681.2(SH3BP2):c.206C>T (p.Pro69Leu)
|
rs775642148
|
0.00001
|
NM_001122681.2(SH3BP2):c.221C>T (p.Ser74Phe)
|
rs532591178
|
0.00001
|
NM_001122681.2(SH3BP2):c.238C>T (p.Arg80Trp)
|
rs372066896
|
0.00001
|
NM_001122681.2(SH3BP2):c.256G>T (p.Glu86Ter)
|
rs890566926
|
0.00001
|
NM_001122681.2(SH3BP2):c.316C>T (p.Arg106Cys)
|
rs760277294
|
0.00001
|
NM_001122681.2(SH3BP2):c.393C>G (p.His131Gln)
|
rs781060795
|
0.00001
|
NM_001122681.2(SH3BP2):c.400G>A (p.Glu134Lys)
|
rs769545519
|
0.00001
|
NM_001122681.2(SH3BP2):c.428+1G>C
|
rs769264475
|
0.00001
|
NM_001122681.2(SH3BP2):c.429C>G (p.Ser143Arg)
|
rs140532510
|
0.00001
|
NM_001122681.2(SH3BP2):c.44T>C (p.Ile15Thr)
|
rs777574434
|
0.00001
|
NM_001122681.2(SH3BP2):c.463G>A (p.Ala155Thr)
|
rs766158687
|
0.00001
|
NM_001122681.2(SH3BP2):c.527A>G (p.His176Arg)
|
rs779050688
|
0.00001
|
NM_001122681.2(SH3BP2):c.586+5G>T
|
rs758216830
|
0.00001
|
NM_001122681.2(SH3BP2):c.605C>T (p.Pro202Leu)
|
rs921887620
|
0.00001
|
NM_001122681.2(SH3BP2):c.625G>A (p.Val209Met)
|
rs1281385097
|
0.00001
|
NM_001122681.2(SH3BP2):c.656A>T (p.Asp219Val)
|
rs150572069
|
0.00001
|
NM_001122681.2(SH3BP2):c.664C>T (p.Arg222Trp)
|
rs201459890
|
0.00001
|
NM_001122681.2(SH3BP2):c.760T>C (p.Ser254Pro)
|
rs1211847666
|
0.00001
|
NM_001122681.2(SH3BP2):c.771C>G (p.Asp257Glu)
|
rs753445987
|
0.00001
|
NM_001122681.2(SH3BP2):c.796C>T (p.Pro266Ser)
|
rs1418589091
|
0.00001
|
NM_001122681.2(SH3BP2):c.803C>G (p.Pro268Arg)
|
rs148592718
|
0.00001
|
NM_001122681.2(SH3BP2):c.823C>T (p.Arg275Ter)
|
rs1282774369
|
0.00001
|
NM_001122681.2(SH3BP2):c.862G>A (p.Ala288Thr)
|
rs756606586
|
0.00001
|
NM_001122681.2(SH3BP2):c.886T>C (p.Cys296Arg)
|
rs1724878185
|
0.00001
|
NM_001122681.2(SH3BP2):c.892C>T (p.Arg298Trp)
|
rs776406405
|
0.00001
|
NM_001122681.2(SH3BP2):c.893G>A (p.Arg298Gln)
|
rs1042293143
|
0.00001
|
NM_001122681.2(SH3BP2):c.930del (p.Gly311fs)
|
rs762935038
|
0.00001
|
NM_001122681.2(SH3BP2):c.932G>A (p.Gly311Asp)
|
rs147908313
|
0.00001
|
NM_001122681.2(SH3BP2):c.944G>C (p.Cys315Ser)
|
rs1312017070
|
0.00001
|
NM_001127671.2(LIFR):c.1984T>C (p.Cys662Arg)
|
rs1358104388
|
0.00001
|
NM_001167.4(XIAP):c.*10A>G
|
rs536914095
|
0.00001
|
NM_001171.6(ABCC6):c.1144C>T (p.Arg382Trp)
|
rs72653761
|
0.00001
|
NM_001171.6(ABCC6):c.1199C>T (p.Ser400Phe)
|
rs747386965
|
0.00001
|
NM_001171.6(ABCC6):c.1243G>A (p.Val415Met)
|
rs200582171
|
0.00001
|
NM_001171.6(ABCC6):c.1258C>G (p.Leu420Val)
|
rs746428588
|
0.00001
|
NM_001171.6(ABCC6):c.130C>G (p.Leu44Val)
|
rs940803158
|
0.00001
|
NM_001171.6(ABCC6):c.1526C>G (p.Ala509Gly)
|
rs779408186
|
0.00001
|
NM_001171.6(ABCC6):c.1603T>C (p.Ser535Pro)
|
rs72653773
|
0.00001
|
NM_001171.6(ABCC6):c.1649T>C (p.Val550Ala)
|
rs914084997
|
0.00001
|
NM_001171.6(ABCC6):c.1699G>A (p.Ala567Thr)
|
rs143092672
|
0.00001
|
NM_001171.6(ABCC6):c.1760C>G (p.Ser587Cys)
|
rs527236047
|
0.00001
|
NM_001171.6(ABCC6):c.1814T>C (p.Leu605Pro)
|
rs768271196
|
0.00001
|
NM_001171.6(ABCC6):c.1868-5T>G
|
rs72664207
|
0.00001
|
NM_001171.6(ABCC6):c.2070+5G>A
|
rs72664208
|
0.00001
|
NM_001171.6(ABCC6):c.2086G>A (p.Val696Met)
|
rs143731811
|
0.00001
|
NM_001171.6(ABCC6):c.2096A>G (p.Glu699Gly)
|
rs1252723064
|
0.00001
|
NM_001171.6(ABCC6):c.2248G>A (p.Gly750Ser)
|
rs1192373126
|
0.00001
|
NM_001171.6(ABCC6):c.2261C>G (p.Ser754Cys)
|
rs866196138
|
0.00001
|
NM_001171.6(ABCC6):c.24C>A (p.Cys8Ter)
|
rs1412967184
|
0.00001
|
NM_001171.6(ABCC6):c.2501T>C (p.Met834Thr)
|
rs1355752953
|
0.00001
|
NM_001171.6(ABCC6):c.2530A>C (p.Lys844Gln)
|
rs201884545
|
0.00001
|
NM_001171.6(ABCC6):c.2643G>T (p.Arg881Ser)
|
rs72653800
|
0.00001
|
NM_001171.6(ABCC6):c.2882C>T (p.Ser961Phe)
|
rs987609654
|
0.00001
|
NM_001171.6(ABCC6):c.2891G>C (p.Arg964Pro)
|
rs72657691
|
0.00001
|
NM_001171.6(ABCC6):c.2965G>A (p.Gly989Arg)
|
rs529676674
|
0.00001
|
NM_001171.6(ABCC6):c.3074T>C (p.Leu1025Pro)
|
rs1555509499
|
0.00001
|
NM_001171.6(ABCC6):c.3370T>C (p.Cys1124Arg)
|
rs1555508972
|
0.00001
|
NM_001171.6(ABCC6):c.3380T>C (p.Met1127Thr)
|
rs63749998
|
0.00001
|
NM_001171.6(ABCC6):c.3381G>A (p.Met1127Ile)
|
rs63750758
|
0.00001
|
NM_001171.6(ABCC6):c.3488C>T (p.Pro1163Leu)
|
rs142128765
|
0.00001
|
NM_001171.6(ABCC6):c.3770C>A (p.Pro1257His)
|
rs576328904
|
0.00001
|
NM_001171.6(ABCC6):c.3977A>G (p.Asp1326Gly)
|
rs929166866
|
0.00001
|
NM_001171.6(ABCC6):c.4036C>T (p.Pro1346Ser)
|
rs63751112
|
0.00001
|
NM_001171.6(ABCC6):c.4081G>A (p.Asp1361Asn)
|
rs58695352
|
0.00001
|
NM_001171.6(ABCC6):c.4189G>A (p.Asp1397Asn)
|
rs749035807
|
0.00001
|
NM_001171.6(ABCC6):c.4253G>A (p.Arg1418Gln)
|
rs63751262
|
0.00001
|
NM_001171.6(ABCC6):c.4375C>T (p.Arg1459Cys)
|
rs72547524
|
0.00001
|
NM_001171.6(ABCC6):c.4381C>T (p.Arg1461Cys)
|
rs1030872147
|
0.00001
|
NM_001171.6(ABCC6):c.560C>T (p.Ala187Val)
|
rs561266462
|
0.00001
|
NM_001171.6(ABCC6):c.751C>T (p.Arg251Trp)
|
rs199645691
|
0.00001
|
NM_001199138.2(NLRC4):c.1+5G>T
|
rs1687216554
|
0.00001
|
NM_001199138.2(NLRC4):c.1079C>T (p.Thr360Ile)
|
rs1166830231
|
0.00001
|
NM_001199138.2(NLRC4):c.1082C>T (p.Thr361Met)
|
rs762565505
|
0.00001
|
NM_001199138.2(NLRC4):c.1160T>C (p.Ile387Thr)
|
rs756625023
|
0.00001
|
NM_001199138.2(NLRC4):c.1304T>A (p.Phe435Tyr)
|
rs1290542567
|
0.00001
|
NM_001199138.2(NLRC4):c.1331A>C (p.Lys444Thr)
|
rs1269189081
|
0.00001
|
NM_001199138.2(NLRC4):c.1379C>T (p.Thr460Met)
|
rs1206027883
|
0.00001
|
NM_001199138.2(NLRC4):c.1400T>C (p.Val467Ala)
|
rs774262869
|
0.00001
|
NM_001199138.2(NLRC4):c.1475G>A (p.Arg492Gln)
|
rs1375814112
|
0.00001
|
NM_001199138.2(NLRC4):c.1571C>T (p.Ala524Val)
|
rs377414343
|
0.00001
|
NM_001199138.2(NLRC4):c.1574A>G (p.Lys525Arg)
|
rs1386496419
|
0.00001
|
NM_001199138.2(NLRC4):c.1579C>A (p.Pro527Thr)
|
rs369233701
|
0.00001
|
NM_001199138.2(NLRC4):c.1764_1765del (p.Gly589fs)
|
rs1553347146
|
0.00001
|
NM_001199138.2(NLRC4):c.1769A>G (p.Asn590Ser)
|
rs113124376
|
0.00001
|
NM_001199138.2(NLRC4):c.176T>G (p.Leu59Trp)
|
rs925367132
|
0.00001
|
NM_001199138.2(NLRC4):c.1811A>G (p.Asn604Ser)
|
rs199475957
|
0.00001
|
NM_001199138.2(NLRC4):c.1839A>C (p.Lys613Asn)
|
rs763616041
|
0.00001
|
NM_001199138.2(NLRC4):c.1891A>G (p.Thr631Ala)
|
rs770833707
|
0.00001
|
NM_001199138.2(NLRC4):c.1897G>A (p.Gly633Arg)
|
rs1396559252
|
0.00001
|
NM_001199138.2(NLRC4):c.222G>C (p.Lys74Asn)
|
rs549981671
|
0.00001
|
NM_001199138.2(NLRC4):c.2306T>C (p.Ile769Thr)
|
rs778144161
|
0.00001
|
NM_001199138.2(NLRC4):c.2614+1G>A
|
rs780894375
|
0.00001
|
NM_001199138.2(NLRC4):c.262+4A>T
|
rs947899957
|
0.00001
|
NM_001199138.2(NLRC4):c.2662T>C (p.Trp888Arg)
|
rs760166121
|
0.00001
|
NM_001199138.2(NLRC4):c.2713G>A (p.Glu905Lys)
|
rs1283568725
|
0.00001
|
NM_001199138.2(NLRC4):c.2716G>A (p.Val906Ile)
|
rs745846903
|
0.00001
|
NM_001199138.2(NLRC4):c.2818C>T (p.Gln940Ter)
|
rs199685258
|
0.00001
|
NM_001199138.2(NLRC4):c.2830T>G (p.Leu944Val)
|
rs898392491
|
0.00001
|
NM_001199138.2(NLRC4):c.2843G>A (p.Arg948His)
|
rs186759526
|
0.00001
|
NM_001199138.2(NLRC4):c.2860T>A (p.Trp954Arg)
|
rs1407417889
|
0.00001
|
NM_001199138.2(NLRC4):c.2959C>T (p.Leu987Phe)
|
rs949916813
|
0.00001
|
NM_001199138.2(NLRC4):c.296A>G (p.Asp99Gly)
|
rs775273312
|
0.00001
|
NM_001199138.2(NLRC4):c.3052G>A (p.Ala1018Thr)
|
rs1438338245
|
0.00001
|
NM_001199138.2(NLRC4):c.358C>G (p.Leu120Val)
|
rs754475682
|
0.00001
|
NM_001199138.2(NLRC4):c.377T>C (p.Ile126Thr)
|
rs750365698
|
0.00001
|
NM_001199138.2(NLRC4):c.419G>A (p.Trp140Ter)
|
rs775526806
|
0.00001
|
NM_001199138.2(NLRC4):c.436C>T (p.His146Tyr)
|
rs1270650686
|
0.00001
|
NM_001199138.2(NLRC4):c.443G>A (p.Arg148His)
|
rs377088692
|
0.00001
|
NM_001199138.2(NLRC4):c.445G>A (p.Val149Met)
|
rs572809664
|
0.00001
|
NM_001199138.2(NLRC4):c.476A>G (p.Gln159Arg)
|
rs200238071
|
0.00001
|
NM_001199138.2(NLRC4):c.526T>A (p.Ser176Thr)
|
rs369429630
|
0.00001
|
NM_001199138.2(NLRC4):c.541C>T (p.Arg181Ter)
|
rs759551435
|
0.00001
|
NM_001199138.2(NLRC4):c.545T>C (p.Ile182Thr)
|
rs575897563
|
0.00001
|
NM_001199138.2(NLRC4):c.549C>T (p.Ala183=)
|
rs1573494931
|
0.00001
|
NM_001199138.2(NLRC4):c.572G>T (p.Cys191Phe)
|
rs1184102407
|
0.00001
|
NM_001199138.2(NLRC4):c.577G>C (p.Ala193Pro)
|
rs375370365
|
0.00001
|
NM_001199138.2(NLRC4):c.583A>C (p.Thr195Pro)
|
rs148470482
|
0.00001
|
NM_001199138.2(NLRC4):c.597C>T (p.Phe199=)
|
rs542279142
|
0.00001
|
NM_001199138.2(NLRC4):c.59T>C (p.Ile20Thr)
|
rs1294896426
|
0.00001
|
NM_001199138.2(NLRC4):c.701C>T (p.Ala234Val)
|
rs773703186
|
0.00001
|
NM_001199138.2(NLRC4):c.704T>C (p.Met235Thr)
|
rs770505969
|
0.00001
|
NM_001199138.2(NLRC4):c.718C>T (p.Arg240Trp)
|
rs749177011
|
0.00001
|
NM_001199138.2(NLRC4):c.757T>C (p.Phe253Leu)
|
rs1160532583
|
0.00001
|
NM_001199138.2(NLRC4):c.763C>T (p.Pro255Ser)
|
rs1440627760
|
0.00001
|
NM_001199138.2(NLRC4):c.781A>T (p.Ile261Phe)
|
rs755136654
|
0.00001
|
NM_001199138.2(NLRC4):c.809G>A (p.Arg270His)
|
rs778359794
|
0.00001
|
NM_001199138.2(NLRC4):c.871G>A (p.Gly291Ser)
|
rs780335164
|
0.00001
|
NM_001199138.2(NLRC4):c.913G>A (p.Ala305Thr)
|
rs374259187
|
0.00001
|
NM_001199138.2(NLRC4):c.931G>A (p.Glu311Lys)
|
rs1687059893
|
0.00001
|
NM_001199138.2(NLRC4):c.945G>A (p.Lys315=)
|
rs746822837
|
0.00001
|
NM_001199397.3(NEK1):c.1335T>C (p.His445=)
|
rs776957816
|
0.00001
|
NM_001243133.2(NLRP3):c.-685G>A
|
rs768557674
|
0.00001
|
NM_001243133.2(NLRP3):c.1158T>A (p.Asp386Glu)
|
rs779193213
|
0.00001
|
NM_001243133.2(NLRP3):c.1186C>G (p.Leu396Val)
|
rs906785956
|
0.00001
|
NM_001243133.2(NLRP3):c.122G>A (p.Arg41Lys)
|
rs201384608
|
0.00001
|
NM_001243133.2(NLRP3):c.1324G>A (p.Val442Ile)
|
rs201252712
|
0.00001
|
NM_001243133.2(NLRP3):c.1355G>A (p.Arg452Gln)
|
rs543916695
|
0.00001
|
NM_001243133.2(NLRP3):c.139G>T (p.Ala47Ser)
|
rs1467336862
|
0.00001
|
NM_001243133.2(NLRP3):c.13C>T (p.Arg5Cys)
|
rs1033902069
|
0.00001
|
NM_001243133.2(NLRP3):c.1484C>T (p.Ala495Val)
|
rs180177474
|
0.00001
|
NM_001243133.2(NLRP3):c.1504A>G (p.Arg502Gly)
|
rs1662756609
|
0.00001
|
NM_001243133.2(NLRP3):c.1588A>G (p.Met530Val)
|
rs768151734
|
0.00001
|
NM_001243133.2(NLRP3):c.1643G>A (p.Arg548His)
|
rs200258061
|
0.00001
|
NM_001243133.2(NLRP3):c.1666G>A (p.Val556Met)
|
rs199637520
|
0.00001
|
NM_001243133.2(NLRP3):c.169A>G (p.Ile57Val)
|
rs1366541794
|
0.00001
|
NM_001243133.2(NLRP3):c.1921G>A (p.Val641Met)
|
rs1662794808
|
0.00001
|
NM_001243133.2(NLRP3):c.1937A>G (p.Asp646Gly)
|
rs1342790456
|
0.00001
|
NM_001243133.2(NLRP3):c.194C>G (p.Ala65Gly)
|
rs763252989
|
0.00001
|
NM_001243133.2(NLRP3):c.2048A>G (p.His683Arg)
|
rs1662805530
|
0.00001
|
NM_001243133.2(NLRP3):c.2089C>T (p.Arg697Ter)
|
rs1191108022
|
0.00001
|
NM_001243133.2(NLRP3):c.2095C>T (p.Leu699Phe)
|
rs536840312
|
0.00001
|
NM_001243133.2(NLRP3):c.2098G>A (p.Asp700Asn)
|
rs781561828
|
0.00001
|
NM_001243133.2(NLRP3):c.2140T>C (p.Cys714Arg)
|
rs147296592
|
0.00001
|
NM_001243133.2(NLRP3):c.2141G>C (p.Cys714Ser)
|
rs1248885910
|
0.00001
|
NM_001243133.2(NLRP3):c.2177G>C (p.Ser726Thr)
|
rs200199289
|
0.00001
|
NM_001243133.2(NLRP3):c.2244C>G (p.Asp748Glu)
|
rs780246397
|
0.00001
|
NM_001243133.2(NLRP3):c.2297C>T (p.Pro766Leu)
|
rs187819424
|
0.00001
|
NM_001243133.2(NLRP3):c.234G>A (p.Arg78=)
|
rs202232879
|
0.00001
|
NM_001243133.2(NLRP3):c.2392C>A (p.Leu798Met)
|
rs756392002
|
0.00001
|
NM_001243133.2(NLRP3):c.2492+3G>A
|
rs754098297
|
0.00001
|
NM_001243133.2(NLRP3):c.2530G>T (p.Asp844Tyr)
|
rs1409419107
|
0.00001
|
NM_001243133.2(NLRP3):c.2591C>T (p.Ala864Val)
|
rs773321213
|
0.00001
|
NM_001243133.2(NLRP3):c.2680C>T (p.Leu894Phe)
|
rs1157282902
|
0.00001
|
NM_001243133.2(NLRP3):c.2767G>A (p.Gly923Arg)
|
rs767011471
|
0.00001
|
NM_001243133.2(NLRP3):c.2807A>G (p.His936Arg)
|
rs1329217260
|
0.00001
|
NM_001243133.2(NLRP3):c.2827G>C (p.Val943Leu)
|
rs199878892
|
0.00001
|
NM_001243133.2(NLRP3):c.2854A>C (p.Thr952Pro)
|
rs777657094
|
0.00001
|
NM_001243133.2(NLRP3):c.28A>C (p.Arg10=)
|
rs1057515531
|
0.00001
|
NM_001243133.2(NLRP3):c.2902A>G (p.Ser968Gly)
|
rs1408232607
|
0.00001
|
NM_001243133.2(NLRP3):c.2912A>C (p.Lys971Thr)
|
rs1247641472
|
0.00001
|
NM_001243133.2(NLRP3):c.2926A>C (p.Asn976His)
|
rs1278737134
|
0.00001
|
NM_001243133.2(NLRP3):c.2951T>A (p.Val984Asp)
|
rs778650629
|
0.00001
|
NM_001243133.2(NLRP3):c.2958G>A (p.Met986Ile)
|
rs771954069
|
0.00001
|
NM_001243133.2(NLRP3):c.3010T>C (p.Ser1004Pro)
|
rs1664742757
|
0.00001
|
NM_001243133.2(NLRP3):c.3094C>A (p.Pro1032Thr)
|
rs1298618908
|
0.00001
|
NM_001243133.2(NLRP3):c.431G>A (p.Ser144Asn)
|
rs768059813
|
0.00001
|
NM_001243133.2(NLRP3):c.446T>C (p.Ile149Thr)
|
rs201768649
|
0.00001
|
NM_001243133.2(NLRP3):c.508C>T (p.Arg170Cys)
|
rs747885829
|
0.00001
|
NM_001243133.2(NLRP3):c.544G>C (p.Glu182Gln)
|
rs899514427
|
0.00001
|
NM_001243133.2(NLRP3):c.673G>T (p.Ala225Ser)
|
rs1193199652
|
0.00001
|
NM_001243133.2(NLRP3):c.717G>T (p.Leu239Phe)
|
rs770294045
|
0.00001
|
NM_001243133.2(NLRP3):c.728C>T (p.Ser243Leu)
|
rs1572168591
|
0.00001
|
NM_001270508.2(TNFAIP3):c.1294G>A (p.Gly432Ser)
|
rs1453719653
|
0.00001
|
NM_001270508.2(TNFAIP3):c.1306G>A (p.Gly436Arg)
|
rs766691413
|
0.00001
|
NM_001270508.2(TNFAIP3):c.1828G>A (p.Ala610Thr)
|
rs1776363649
|
0.00001
|
NM_001282225.2(ADA2):c.1007A>G (p.Asp336Gly)
|
rs377213003
|
0.00001
|
NM_001282225.2(ADA2):c.101G>A (p.Arg34Gln)
|
rs767960747
|
0.00001
|
NM_001282225.2(ADA2):c.1069G>A (p.Ala357Thr)
|
rs374974565
|
0.00001
|
NM_001282225.2(ADA2):c.1099A>C (p.Ile367Leu)
|
rs780583418
|
0.00001
|
NM_001282225.2(ADA2):c.10G>A (p.Asp4Asn)
|
rs370257828
|
0.00001
|
NM_001282225.2(ADA2):c.1100T>C (p.Ile367Thr)
|
rs2061988155
|
0.00001
|
NM_001282225.2(ADA2):c.1118A>T (p.Asp373Val)
|
rs375443506
|
0.00001
|
NM_001282225.2(ADA2):c.1139C>T (p.Thr380Ile)
|
rs765154508
|
0.00001
|
NM_001282225.2(ADA2):c.1172A>G (p.His391Arg)
|
rs749413678
|
0.00001
|
NM_001282225.2(ADA2):c.1213A>T (p.Ile405Leu)
|
rs1168801973
|
0.00001
|
NM_001282225.2(ADA2):c.1240-6G>A
|
rs781688965
|
0.00001
|
NM_001282225.2(ADA2):c.1307T>C (p.Met436Thr)
|
rs775742013
|
0.00001
|
NM_001282225.2(ADA2):c.1430T>C (p.Met477Thr)
|
rs369910191
|
0.00001
|
NM_001282225.2(ADA2):c.1439T>C (p.Ile480Thr)
|
rs1388757088
|
0.00001
|
NM_001282225.2(ADA2):c.1445A>G (p.Tyr482Cys)
|
rs1460820814
|
0.00001
|
NM_001282225.2(ADA2):c.278T>C (p.Ile93Thr)
|
rs767399919
|
0.00001
|
NM_001282225.2(ADA2):c.363G>A (p.Met121Ile)
|
rs756689332
|
0.00001
|
NM_001282225.2(ADA2):c.378G>T (p.Arg126Ser)
|
rs1163129294
|
0.00001
|
NM_001282225.2(ADA2):c.380A>G (p.Asn127Ser)
|
rs547716532
|
0.00001
|
NM_001282225.2(ADA2):c.387C>T (p.Thr129=)
|
rs1258338183
|
0.00001
|
NM_001282225.2(ADA2):c.470A>C (p.Glu157Ala)
|
rs762092127
|
0.00001
|
NM_001282225.2(ADA2):c.514G>C (p.Val172Leu)
|
rs1245539035
|
0.00001
|
NM_001282225.2(ADA2):c.542+5G>A
|
rs754845225
|
0.00001
|
NM_001282225.2(ADA2):c.578C>T (p.Pro193Leu)
|
rs199567025
|
0.00001
|
NM_001282225.2(ADA2):c.614C>T (p.Ser205Leu)
|
rs369306297
|
0.00001
|
NM_001282225.2(ADA2):c.61A>G (p.Met21Val)
|
rs773893396
|
0.00001
|
NM_001282225.2(ADA2):c.620T>G (p.Phe207Cys)
|
rs1292778015
|
0.00001
|
NM_001282225.2(ADA2):c.641T>C (p.Ile214Thr)
|
rs369510859
|
0.00001
|
NM_001282225.2(ADA2):c.647G>T (p.Gly216Val)
|
rs766924184
|
0.00001
|
NM_001282225.2(ADA2):c.688C>T (p.Arg230Trp)
|
rs777662147
|
0.00001
|
NM_001282225.2(ADA2):c.778C>T (p.His260Tyr)
|
rs778374105
|
0.00001
|
NM_001282225.2(ADA2):c.83T>C (p.Leu28Pro)
|
rs777404100
|
0.00001
|
NM_001282225.2(ADA2):c.856A>G (p.Ile286Val)
|
rs755614060
|
0.00001
|
NM_001282225.2(ADA2):c.88A>G (p.Ile30Val)
|
rs1601462414
|
0.00001
|
NM_001282225.2(ADA2):c.998C>A (p.Ser333Tyr)
|
rs1293578507
|
0.00001
|
NM_001330360.2(POLA1):c.1193G>A (p.Arg398His)
|
rs915033662
|
0.00001
|
NM_001366385.1(CARD14):c.1270T>C (p.Cys424Arg)
|
rs567958673
|
0.00001
|
NM_001366385.1(CARD14):c.1414C>T (p.Arg472Cys)
|
rs145876317
|
0.00001
|
NM_001366385.1(CARD14):c.1558G>A (p.Asp520Asn)
|
rs760471922
|
0.00001
|
NM_001366385.1(CARD14):c.1602G>A (p.Pro534=)
|
rs1414906812
|
0.00001
|
NM_001366385.1(CARD14):c.1799C>T (p.Pro600Leu)
|
rs746260783
|
0.00001
|
NM_001366385.1(CARD14):c.2019G>A (p.Ala673=)
|
rs1024202736
|
0.00001
|
NM_001366385.1(CARD14):c.2196C>T (p.His732=)
|
rs758642695
|
0.00001
|
NM_001366385.1(CARD14):c.2473G>A (p.Ala825Thr)
|
rs538251591
|
0.00001
|
NM_001366385.1(CARD14):c.250G>A (p.Gly84Arg)
|
rs193262780
|
0.00001
|
NM_001366385.1(CARD14):c.2517G>C (p.Lys839Asn)
|
rs950950885
|
0.00001
|
NM_001366385.1(CARD14):c.2535G>A (p.Leu845=)
|
rs1193362044
|
0.00001
|
NM_001366385.1(CARD14):c.2579G>T (p.Ser860Ile)
|
rs865872056
|
0.00001
|
NM_001366385.1(CARD14):c.2638T>C (p.Ser880Pro)
|
rs754405150
|
0.00001
|
NM_001366385.1(CARD14):c.2985G>A (p.Lys995=)
|
rs534581445
|
0.00001
|
NM_001366385.1(CARD14):c.312C>T (p.Thr104=)
|
rs768362011
|
0.00001
|
NM_001366385.1(CARD14):c.326A>T (p.Asp109Val)
|
rs1014252436
|
0.00001
|
NM_001366385.1(CARD14):c.348C>T (p.Ser116=)
|
rs775819149
|
0.00001
|
NM_001366385.1(CARD14):c.350-4A>G
|
rs748808582
|
0.00001
|
NM_001366385.1(CARD14):c.502G>A (p.Glu168Lys)
|
rs752479739
|
0.00001
|
NM_001366385.1(CARD14):c.570G>A (p.Glu190=)
|
rs955758766
|
0.00001
|
NM_001366385.1(CARD14):c.758C>T (p.Thr253Ile)
|
rs780324929
|
0.00001
|
NM_001366385.1(CARD14):c.883C>T (p.Arg295Trp)
|
rs1431548778
|
0.00001
|
NM_001366385.1(CARD14):c.90C>T (p.Ile30=)
|
rs549347508
|
0.00001
|
NM_001366385.1(CARD14):c.963+5C>T
|
rs779986122
|
0.00001
|
NM_001367624.2(ZNF469):c.*649C>G
|
rs561472955
|
0.00001
|
NM_001367624.2(ZNF469):c.*664C>T
|
rs886052423
|
0.00001
|
NM_001367624.2(ZNF469):c.1048G>A (p.Asp350Asn)
|
rs568820656
|
0.00001
|
NM_001367624.2(ZNF469):c.10811C>T (p.Pro3604Leu)
|
rs957402222
|
0.00001
|
NM_001367624.2(ZNF469):c.1547G>C (p.Gly516Ala)
|
rs753160761
|
0.00001
|
NM_001367624.2(ZNF469):c.1799C>T (p.Thr600Met)
|
rs749374208
|
0.00001
|
NM_001367624.2(ZNF469):c.1856G>T (p.Ser619Ile)
|
rs1187845779
|
0.00001
|
NM_001367624.2(ZNF469):c.2361C>G (p.His787Gln)
|
rs886052395
|
0.00001
|
NM_001367624.2(ZNF469):c.2652C>G (p.Pro884=)
|
rs767431034
|
0.00001
|
NM_001367624.2(ZNF469):c.2952C>T (p.Asp984=)
|
rs886052398
|
0.00001
|
NM_001367624.2(ZNF469):c.2953G>A (p.Gly985Ser)
|
rs886052399
|
0.00001
|
NM_001367624.2(ZNF469):c.3183C>T (p.Arg1061=)
|
rs756703220
|
0.00001
|
NM_001367624.2(ZNF469):c.3482C>A (p.Ser1161Tyr)
|
rs903409672
|
0.00001
|
NM_001367624.2(ZNF469):c.3485G>T (p.Arg1162Leu)
|
rs886052402
|
0.00001
|
NM_001367624.2(ZNF469):c.376A>G (p.Ser126Gly)
|
rs886052389
|
0.00001
|
NM_001367624.2(ZNF469):c.5114C>T (p.Thr1705Ile)
|
rs768667107
|
0.00001
|
NM_001367624.2(ZNF469):c.5297G>A (p.Arg1766Gln)
|
rs571207087
|
0.00001
|
NM_001367624.2(ZNF469):c.6480C>T (p.Pro2160=)
|
rs370190101
|
0.00001
|
NM_001367624.2(ZNF469):c.6665T>C (p.Leu2222Pro)
|
rs78213929
|
0.00001
|
NM_001367624.2(ZNF469):c.7111G>A (p.Gly2371Arg)
|
rs886052408
|
0.00001
|
NM_001367624.2(ZNF469):c.7159C>T (p.Arg2387Cys)
|
rs886052409
|
0.00001
|
NM_001367624.2(ZNF469):c.7595G>T (p.Arg2532Met)
|
rs553909579
|
0.00001
|
NM_001367624.2(ZNF469):c.7720C>T (p.His2574Tyr)
|
rs886052410
|
0.00001
|
NM_001367624.2(ZNF469):c.8856C>T (p.Asp2952=)
|
rs766581620
|
0.00001
|
NM_001367624.2(ZNF469):c.9131C>T (p.Thr3044Met)
|
rs273585626
|
0.00001
|
NM_001367624.2(ZNF469):c.9174G>A (p.Leu3058=)
|
rs886052416
|
0.00001
|
NM_001367624.2(ZNF469):c.9279G>T (p.Glu3093Asp)
|
rs886052417
|
0.00001
|
NM_001367624.2(ZNF469):c.9316C>T (p.Arg3106Trp)
|
rs1292941352
|
0.00001
|
NM_001367624.2(ZNF469):c.9532G>A (p.Gly3178Ser)
|
rs887755283
|
0.00001
|
NM_001370466.1(NOD2):c.*1200A>G
|
rs980810508
|
0.00001
|
NM_001370466.1(NOD2):c.*609C>T
|
rs1965489095
|
0.00001
|
NM_001370466.1(NOD2):c.-8-2223G>T
|
rs764563350
|
0.00001
|
NM_001370466.1(NOD2):c.-8-2223del
|
rs1213629611
|
0.00001
|
NM_001370466.1(NOD2):c.-8-2244A>G
|
rs1255636125
|
0.00001
|
NM_001370466.1(NOD2):c.1006A>T (p.Ile336Phe)
|
rs104895470
|
0.00001
|
NM_001370466.1(NOD2):c.1070T>A (p.Phe357Tyr)
|
rs777343284
|
0.00001
|
NM_001370466.1(NOD2):c.1177C>T (p.Arg393Cys)
|
rs367883043
|
0.00001
|
NM_001370466.1(NOD2):c.1182G>A (p.Lys394=)
|
rs749142500
|
0.00001
|
NM_001370466.1(NOD2):c.118T>C (p.Ser40Pro)
|
rs760962549
|
0.00001
|
NM_001370466.1(NOD2):c.1195C>T (p.Arg399Cys)
|
rs545466982
|
0.00001
|
NM_001370466.1(NOD2):c.1222A>G (p.Arg408Gly)
|
rs768389547
|
0.00001
|
NM_001370466.1(NOD2):c.1316C>T (p.Ala439Val)
|
rs776802746
|
0.00001
|
NM_001370466.1(NOD2):c.1413A>C (p.Glu471Asp)
|
rs1361409611
|
0.00001
|
NM_001370466.1(NOD2):c.1428G>A (p.Glu476=)
|
rs104895434
|
0.00001
|
NM_001370466.1(NOD2):c.1459T>C (p.Tyr487His)
|
rs540122692
|
0.00001
|
NM_001370466.1(NOD2):c.1478A>G (p.His493Arg)
|
rs757269951
|
0.00001
|
NM_001370466.1(NOD2):c.1492G>A (p.Ala498Thr)
|
rs1283801598
|
0.00001
|
NM_001370466.1(NOD2):c.1609G>A (p.Val537Met)
|
rs760678831
|
0.00001
|
NM_001370466.1(NOD2):c.1677G>T (p.Val559=)
|
rs369719210
|
0.00001
|
NM_001370466.1(NOD2):c.1765G>A (p.Ala589Thr)
|
rs747674172
|
0.00001
|
NM_001370466.1(NOD2):c.179G>A (p.Arg60His)
|
rs983465914
|
0.00001
|
NM_001370466.1(NOD2):c.1802A>G (p.His601Arg)
|
rs746653187
|
0.00001
|
NM_001370466.1(NOD2):c.185T>A (p.Leu62Gln)
|
rs1286052486
|
0.00001
|
NM_001370466.1(NOD2):c.1879G>A (p.Gly627Arg)
|
rs777290315
|
0.00001
|
NM_001370466.1(NOD2):c.188A>T (p.Asp63Val)
|
rs747221457
|
0.00001
|
NM_001370466.1(NOD2):c.1900G>C (p.Ala634Pro)
|
rs369957746
|
0.00001
|
NM_001370466.1(NOD2):c.1957G>A (p.Gly653Arg)
|
rs371339573
|
0.00001
|
NM_001370466.1(NOD2):c.198G>A (p.Trp66Ter)
|
rs761449474
|
0.00001
|
NM_001370466.1(NOD2):c.2029C>T (p.Gln677Ter)
|
rs755721919
|
0.00001
|
NM_001370466.1(NOD2):c.2046G>A (p.Trp682Ter)
|
rs776701942
|
0.00001
|
NM_001370466.1(NOD2):c.2150G>A (p.Arg717Gln)
|
rs751849531
|
0.00001
|
NM_001370466.1(NOD2):c.2161G>A (p.Glu721Lys)
|
rs757403209
|
0.00001
|
NM_001370466.1(NOD2):c.2176C>T (p.Arg726Trp)
|
rs749720540
|
0.00001
|
NM_001370466.1(NOD2):c.2192C>T (p.Ala731Val)
|
rs104895442
|
0.00001
|
NM_001370466.1(NOD2):c.2197C>T (p.Arg733Cys)
|
rs3813758
|
0.00001
|
NM_001370466.1(NOD2):c.220C>G (p.Gln74Glu)
|
rs753619374
|
0.00001
|
NM_001370466.1(NOD2):c.2297T>C (p.Val766Ala)
|
rs1200152449
|
0.00001
|
NM_001370466.1(NOD2):c.22C>T (p.Gln8Ter)
|
rs1567380372
|
0.00001
|
NM_001370466.1(NOD2):c.2304G>C (p.Leu768=)
|
rs1164125645
|
0.00001
|
NM_001370466.1(NOD2):c.2338G>A (p.Val780Met)
|
rs748522514
|
0.00001
|
NM_001370466.1(NOD2):c.2353C>T (p.Pro785Ser)
|
rs746692864
|
0.00001
|
NM_001370466.1(NOD2):c.2387G>A (p.Arg796His)
|
rs768930237
|
0.00001
|
NM_001370466.1(NOD2):c.2390A>G (p.Asp797Gly)
|
rs778481419
|
0.00001
|
NM_001370466.1(NOD2):c.2413A>T (p.Ile805Phe)
|
rs765335094
|
0.00001
|
NM_001370466.1(NOD2):c.2434G>T (p.Ala812Ser)
|
rs757680896
|
0.00001
|
NM_001370466.1(NOD2):c.2443T>C (p.Cys815Arg)
|
rs146313066
|
0.00001
|
NM_001370466.1(NOD2):c.2444G>A (p.Cys815Tyr)
|
rs754471017
|
0.00001
|
NM_001370466.1(NOD2):c.2445C>T (p.Cys815=)
|
rs778447050
|
0.00001
|
NM_001370466.1(NOD2):c.251A>G (p.Gln84Arg)
|
rs746189550
|
0.00001
|
NM_001370466.1(NOD2):c.2534A>G (p.Asn845Ser)
|
rs201806207
|
0.00001
|
NM_001370466.1(NOD2):c.2553G>A (p.Leu851=)
|
rs1283225496
|
0.00001
|
NM_001370466.1(NOD2):c.2575G>A (p.Ala859Thr)
|
rs376366287
|
0.00001
|
NM_001370466.1(NOD2):c.2576C>T (p.Ala859Val)
|
rs565200911
|
0.00001
|
NM_001370466.1(NOD2):c.2596G>A (p.Glu866Lys)
|
rs201884393
|
0.00001
|
NM_001370466.1(NOD2):c.2605C>T (p.Arg869Ter)
|
rs769101191
|
0.00001
|
NM_001370466.1(NOD2):c.2618C>T (p.Ser873Phe)
|
rs199552944
|
0.00001
|
NM_001370466.1(NOD2):c.2619C>T (p.Ser873=)
|
rs759227592
|
0.00001
|
NM_001370466.1(NOD2):c.2654G>C (p.Gly885Ala)
|
rs779300567
|
0.00001
|
NM_001370466.1(NOD2):c.2659G>A (p.Glu887Lys)
|
rs758913334
|
0.00001
|
NM_001370466.1(NOD2):c.2719C>G (p.Leu907Val)
|
rs771833402
|
0.00001
|
NM_001370466.1(NOD2):c.278A>G (p.His93Arg)
|
rs959869589
|
0.00001
|
NM_001370466.1(NOD2):c.2816A>G (p.His939Arg)
|
rs189453919
|
0.00001
|
NM_001370466.1(NOD2):c.2828A>G (p.Glu943Gly)
|
rs371389581
|
0.00001
|
NM_001370466.1(NOD2):c.2885+6G>T
|
rs546478048
|
0.00001
|
NM_001370466.1(NOD2):c.2903T>C (p.Ile968Thr)
|
rs1306240431
|
0.00001
|
NM_001370466.1(NOD2):c.2929C>G (p.Leu977Val)
|
rs772487940
|
0.00001
|
NM_001370466.1(NOD2):c.2935G>C (p.Ala979Pro)
|
rs199883290
|
0.00001
|
NM_001370466.1(NOD2):c.2938C>T (p.Leu980Phe)
|
rs761083670
|
0.00001
|
NM_001370466.1(NOD2):c.295C>G (p.His99Asp)
|
rs781448444
|
0.00001
|
NM_001370466.1(NOD2):c.2971C>T (p.Leu991Phe)
|
rs146435555
|
0.00001
|
NM_001370466.1(NOD2):c.3011T>A (p.Leu1004His)
|
rs1451481984
|
0.00001
|
NM_001370466.1(NOD2):c.314G>A (p.Arg105Gln)
|
rs781540619
|
0.00001
|
NM_001370466.1(NOD2):c.323A>G (p.Gln108Arg)
|
rs770240116
|
0.00001
|
NM_001370466.1(NOD2):c.334C>T (p.Pro112Ser)
|
rs749841667
|
0.00001
|
NM_001370466.1(NOD2):c.394C>T (p.Arg132Trp)
|
rs562557464
|
0.00001
|
NM_001370466.1(NOD2):c.395G>A (p.Arg132Gln)
|
rs150996156
|
0.00001
|
NM_001370466.1(NOD2):c.435G>C (p.Leu145Phe)
|
rs1292846110
|
0.00001
|
NM_001370466.1(NOD2):c.449C>T (p.Pro150Leu)
|
rs144368009
|
0.00001
|
NM_001370466.1(NOD2):c.461C>A (p.Ala154Glu)
|
rs141414002
|
0.00001
|
NM_001370466.1(NOD2):c.50T>A (p.Leu17Gln)
|
rs757914381
|
0.00001
|
NM_001370466.1(NOD2):c.565+1G>A
|
rs766614906
|
0.00001
|
NM_001370466.1(NOD2):c.565+4G>A
|
rs776802652
|
0.00001
|
NM_001370466.1(NOD2):c.658T>C (p.Cys220Arg)
|
rs764675751
|
0.00001
|
NM_001370466.1(NOD2):c.659G>T (p.Cys220Phe)
|
rs752210177
|
0.00001
|
NM_001370466.1(NOD2):c.841C>T (p.Leu281Phe)
|
rs1267341301
|
0.00001
|
NM_001370466.1(NOD2):c.917G>A (p.Cys306Tyr)
|
rs1307391583
|
0.00001
|
NM_001370466.1(NOD2):c.955C>T (p.Arg319Trp)
|
rs753537879
|
0.00001
|
NM_001370466.1(NOD2):c.986C>T (p.Pro329Leu)
|
rs201107567
|
0.00001
|
NM_001375808.2(LPIN2):c.*1104C>T
|
rs913148654
|
0.00001
|
NM_001375808.2(LPIN2):c.*1146T>C
|
rs1384648245
|
0.00001
|
NM_001375808.2(LPIN2):c.*1239C>T
|
rs1257894281
|
0.00001
|
NM_001375808.2(LPIN2):c.*1497C>T
|
rs1321388898
|
0.00001
|
NM_001375808.2(LPIN2):c.*493G>C
|
rs886053758
|
0.00001
|
NM_001375808.2(LPIN2):c.*506C>T
|
rs886053757
|
0.00001
|
NM_001375808.2(LPIN2):c.*517G>A
|
rs760055818
|
0.00001
|
NM_001375808.2(LPIN2):c.-10+1254G>A
|
rs886053770
|
0.00001
|
NM_001375808.2(LPIN2):c.-10+1349A>G
|
rs538473680
|
0.00001
|
NM_001375808.2(LPIN2):c.1072A>G (p.Met358Val)
|
rs1468101530
|
0.00001
|
NM_001375808.2(LPIN2):c.1082C>T (p.Ala361Val)
|
rs767142433
|
0.00001
|
NM_001375808.2(LPIN2):c.1109C>T (p.Ala370Val)
|
rs771059835
|
0.00001
|
NM_001375808.2(LPIN2):c.1115C>T (p.Ala372Val)
|
rs201830346
|
0.00001
|
NM_001375808.2(LPIN2):c.1144G>A (p.Val382Ile)
|
rs1486044509
|
0.00001
|
NM_001375808.2(LPIN2):c.1171G>A (p.Val391Ile)
|
rs886053767
|
0.00001
|
NM_001375808.2(LPIN2):c.1199C>T (p.Pro400Leu)
|
rs1215786797
|
0.00001
|
NM_001375808.2(LPIN2):c.125G>C (p.Ser42Thr)
|
rs201473097
|
0.00001
|
NM_001375808.2(LPIN2):c.131A>G (p.Gln44Arg)
|
rs747502342
|
0.00001
|
NM_001375808.2(LPIN2):c.1404C>T (p.Asp468=)
|
rs376147435
|
0.00001
|
NM_001375808.2(LPIN2):c.1492T>C (p.Phe498Leu)
|
rs876660986
|
0.00001
|
NM_001375808.2(LPIN2):c.1544A>G (p.Tyr515Cys)
|
rs746027036
|
0.00001
|
NM_001375808.2(LPIN2):c.1549C>T (p.Arg517Cys)
|
rs781071052
|
0.00001
|
NM_001375808.2(LPIN2):c.1631A>G (p.Glu544Gly)
|
rs760055156
|
0.00001
|
NM_001375808.2(LPIN2):c.1664C>G (p.Ser555Cys)
|
rs773514460
|
0.00001
|
NM_001375808.2(LPIN2):c.1710+3A>G
|
rs1007627972
|
0.00001
|
NM_001375808.2(LPIN2):c.1712T>A (p.Leu571Gln)
|
rs142392384
|
0.00001
|
NM_001375808.2(LPIN2):c.1720T>A (p.Ser574Thr)
|
rs148779863
|
0.00001
|
NM_001375808.2(LPIN2):c.1745C>T (p.Pro582Leu)
|
rs755110304
|
0.00001
|
NM_001375808.2(LPIN2):c.1839C>T (p.Leu613=)
|
rs886053766
|
0.00001
|
NM_001375808.2(LPIN2):c.1840G>A (p.Glu614Lys)
|
rs765017173
|
0.00001
|
NM_001375808.2(LPIN2):c.191T>C (p.Val64Ala)
|
rs754730690
|
0.00001
|
NM_001375808.2(LPIN2):c.1930G>A (p.Asp644Asn)
|
rs779176377
|
0.00001
|
NM_001375808.2(LPIN2):c.1938+4A>G
|
rs1397526157
|
0.00001
|
NM_001375808.2(LPIN2):c.1975G>A (p.Val659Met)
|
rs948057549
|
0.00001
|
NM_001375808.2(LPIN2):c.2090C>T (p.Ser697Leu)
|
rs754622332
|
0.00001
|
NM_001375808.2(LPIN2):c.2171A>G (p.Asn724Ser)
|
rs140915714
|
0.00001
|
NM_001375808.2(LPIN2):c.2201C>T (p.Ser734Leu)
|
rs80338807
|
0.00001
|
NM_001375808.2(LPIN2):c.2224G>A (p.Asp742Asn)
|
rs779538504
|
0.00001
|
NM_001375808.2(LPIN2):c.2234G>A (p.Arg745His)
|
rs1222370431
|
0.00001
|
NM_001375808.2(LPIN2):c.223G>A (p.Asp75Asn)
|
rs750411797
|
0.00001
|
NM_001375808.2(LPIN2):c.2291T>G (p.Met764Arg)
|
rs2077063217
|
0.00001
|
NM_001375808.2(LPIN2):c.2317G>A (p.Ala773Thr)
|
rs750526323
|
0.00001
|
NM_001375808.2(LPIN2):c.2327+4C>T
|
rs1344450204
|
0.00001
|
NM_001375808.2(LPIN2):c.2327+6T>A
|
rs1334564990
|
0.00001
|
NM_001375808.2(LPIN2):c.2463A>G (p.Gln821=)
|
rs1295333459
|
0.00001
|
NM_001375808.2(LPIN2):c.2494G>A (p.Val832Met)
|
rs773309322
|
0.00001
|
NM_001375808.2(LPIN2):c.2546C>T (p.Ser849Leu)
|
rs1467998402
|
0.00001
|
NM_001375808.2(LPIN2):c.2547-1G>A
|
rs145858312
|
0.00001
|
NM_001375808.2(LPIN2):c.2609C>G (p.Ser870Cys)
|
rs769901079
|
0.00001
|
NM_001375808.2(LPIN2):c.2612C>T (p.Ala871Val)
|
rs1210159824
|
0.00001
|
NM_001375808.2(LPIN2):c.2617C>A (p.Pro873Thr)
|
rs757315664
|
0.00001
|
NM_001375808.2(LPIN2):c.2674C>T (p.Leu892=)
|
rs1414200193
|
0.00001
|
NM_001375808.2(LPIN2):c.2678A>G (p.Asp893Gly)
|
rs1830594288
|
0.00001
|
NM_001375808.2(LPIN2):c.361C>T (p.Pro121Ser)
|
rs142161739
|
0.00001
|
NM_001375808.2(LPIN2):c.418G>A (p.Val140Ile)
|
rs751024451
|
0.00001
|
NM_001375808.2(LPIN2):c.496A>G (p.Ser166Gly)
|
rs1187367177
|
0.00001
|
NM_001375808.2(LPIN2):c.54C>A (p.Leu18=)
|
rs753729438
|
0.00001
|
NM_001375808.2(LPIN2):c.577G>A (p.Ala193Thr)
|
rs539324906
|
0.00001
|
NM_001375808.2(LPIN2):c.590+8T>G
|
rs760846327
|
0.00001
|
NM_001375808.2(LPIN2):c.751C>T (p.Pro251Ser)
|
rs1350091087
|
0.00001
|
NM_001375808.2(LPIN2):c.755C>T (p.Ala252Val)
|
rs774296727
|
0.00001
|
NM_001375808.2(LPIN2):c.756G>A (p.Ala252=)
|
rs570485374
|
0.00001
|
NM_001375808.2(LPIN2):c.766C>A (p.Leu256Ile)
|
rs765149855
|
0.00001
|
NM_001375808.2(LPIN2):c.777G>T (p.Glu259Asp)
|
rs772512144
|
0.00001
|
NM_001375808.2(LPIN2):c.794C>T (p.Thr265Met)
|
rs1334562388
|
0.00001
|
NM_001375808.2(LPIN2):c.802G>A (p.Gly268Arg)
|
rs755432834
|
0.00001
|
NM_001375808.2(LPIN2):c.847C>T (p.His283Tyr)
|
rs200426834
|
0.00001
|
NM_001375808.2(LPIN2):c.896G>A (p.Arg299Gln)
|
rs766189065
|
0.00001
|
NM_001375808.2(LPIN2):c.907A>C (p.Ser303Arg)
|
rs139798681
|
0.00001
|
NM_001375808.2(LPIN2):c.944C>T (p.Ala315Val)
|
rs777659252
|
0.00001
|
NM_001375808.2(LPIN2):c.997G>C (p.Gly333Arg)
|
rs531715581
|
0.00001
|
NM_001457.4(FLNB):c.1486G>T (p.Gly496Cys)
|
rs747825411
|
0.00001
|
NM_001457.4(FLNB):c.282C>T (p.Leu94=)
|
rs745493076
|
0.00001
|
NM_001457.4(FLNB):c.3176C>T (p.Ala1059Val)
|
rs570950728
|
0.00001
|
NM_001457.4(FLNB):c.4736C>T (p.Thr1579Ile)
|
rs2097315257
|
0.00001
|
NM_001457.4(FLNB):c.5784C>T (p.Leu1928=)
|
rs866717445
|
0.00001
|
NM_001558.4(IL10RA):c.*104C>G
|
rs886047710
|
0.00001
|
NM_001558.4(IL10RA):c.*405G>A
|
rs768366983
|
0.00001
|
NM_001558.4(IL10RA):c.-29C>T
|
rs755865901
|
0.00001
|
NM_001558.4(IL10RA):c.1002G>C (p.Gln334His)
|
rs758119534
|
0.00001
|
NM_001558.4(IL10RA):c.1019C>T (p.Pro340Leu)
|
rs969779145
|
0.00001
|
NM_001558.4(IL10RA):c.1103C>T (p.Thr368Ile)
|
rs568487189
|
0.00001
|
NM_001558.4(IL10RA):c.1118G>T (p.Cys373Phe)
|
rs1342686509
|
0.00001
|
NM_001558.4(IL10RA):c.1139G>A (p.Ser380Asn)
|
rs2058074890
|
0.00001
|
NM_001558.4(IL10RA):c.1165C>A (p.Gln389Lys)
|
rs746168445
|
0.00001
|
NM_001558.4(IL10RA):c.1166A>T (p.Gln389Leu)
|
rs772645232
|
0.00001
|
NM_001558.4(IL10RA):c.1174G>A (p.Gly392Arg)
|
rs1031597162
|
0.00001
|
NM_001558.4(IL10RA):c.1250A>G (p.Gln417Arg)
|
rs778369288
|
0.00001
|
NM_001558.4(IL10RA):c.1323G>A (p.Val441=)
|
rs746663189
|
0.00001
|
NM_001558.4(IL10RA):c.1399T>C (p.Ser467Pro)
|
rs2058077626
|
0.00001
|
NM_001558.4(IL10RA):c.1408A>G (p.Thr470Ala)
|
rs528243258
|
0.00001
|
NM_001558.4(IL10RA):c.1631A>T (p.Asp544Val)
|
rs550530605
|
0.00001
|
NM_001558.4(IL10RA):c.184C>A (p.Leu62Met)
|
rs1446614429
|
0.00001
|
NM_001558.4(IL10RA):c.188+3G>A
|
rs780334422
|
0.00001
|
NM_001558.4(IL10RA):c.274C>T (p.His92Tyr)
|
rs1333934613
|
0.00001
|
NM_001558.4(IL10RA):c.290G>A (p.Arg97Gln)
|
rs752043400
|
0.00001
|
NM_001558.4(IL10RA):c.319C>T (p.Arg107Trp)
|
rs747009132
|
0.00001
|
NM_001558.4(IL10RA):c.447G>A (p.Lys149=)
|
rs750580462
|
0.00001
|
NM_001558.4(IL10RA):c.473A>G (p.Glu158Gly)
|
rs748829818
|
0.00001
|
NM_001558.4(IL10RA):c.515G>A (p.Arg172His)
|
rs769225123
|
0.00001
|
NM_001558.4(IL10RA):c.517A>G (p.Lys173Glu)
|
rs1213366682
|
0.00001
|
NM_001558.4(IL10RA):c.524C>T (p.Pro175Leu)
|
rs149837909
|
0.00001
|
NM_001558.4(IL10RA):c.538T>G (p.Phe180Val)
|
rs759799794
|
0.00001
|
NM_001558.4(IL10RA):c.628G>A (p.Ala210Thr)
|
rs779757879
|
0.00001
|
NM_001558.4(IL10RA):c.80C>T (p.Pro27Leu)
|
rs755758777
|
0.00001
|
NM_001558.4(IL10RA):c.810+11C>T
|
rs763760161
|
0.00001
|
NM_001558.4(IL10RA):c.818A>G (p.Lys273Arg)
|
rs750798173
|
0.00001
|
NM_001558.4(IL10RA):c.896A>T (p.Glu299Val)
|
rs1241295240
|
0.00001
|
NM_001558.4(IL10RA):c.975G>C (p.Lys325Asn)
|
rs375357983
|
0.00001
|
NM_001611.5(ACP5):c.14C>T (p.Thr5Met)
|
rs556637113
|
0.00001
|
NM_001611.5(ACP5):c.163G>A (p.Ala55Thr)
|
rs529545521
|
0.00001
|
NM_001611.5(ACP5):c.245A>G (p.Asn82Ser)
|
rs202233676
|
0.00001
|
NM_001611.5(ACP5):c.334G>A (p.Asp112Asn)
|
rs1252610234
|
0.00001
|
NM_001611.5(ACP5):c.383A>G (p.Lys128Arg)
|
rs750563102
|
0.00001
|
NM_001611.5(ACP5):c.393C>G (p.Asn131Lys)
|
rs767853623
|
0.00001
|
NM_001611.5(ACP5):c.410A>G (p.Tyr137Cys)
|
rs760044774
|
0.00001
|
NM_001611.5(ACP5):c.469A>G (p.Thr157Ala)
|
rs1399049173
|
0.00001
|
NM_001611.5(ACP5):c.47C>A (p.Pro16His)
|
rs201047202
|
0.00001
|
NM_001611.5(ACP5):c.542C>A (p.Ala181Asp)
|
rs745457954
|
0.00001
|
NM_001611.5(ACP5):c.632T>C (p.Ile211Thr)
|
rs770788576
|
0.00001
|
NM_001611.5(ACP5):c.646C>A (p.Pro216Thr)
|
rs1372135711
|
0.00001
|
NM_001611.5(ACP5):c.758T>C (p.Val253Ala)
|
rs775386822
|
0.00001
|
NM_001611.5(ACP5):c.831_833del (p.Tyr278del)
|
rs387906671
|
0.00001
|
NM_001611.5(ACP5):c.832T>C (p.Tyr278His)
|
rs1248410622
|
0.00001
|
NM_001611.5(ACP5):c.854C>T (p.Thr285Ile)
|
rs1369048725
|
0.00001
|
NM_001611.5(ACP5):c.91G>A (p.Val31Met)
|
rs765947561
|
0.00001
|
NM_001613.4(ACTA2):c.296C>G (p.Ala99Gly)
|
rs779757924
|
0.00001
|
NM_001754.5(RUNX1):c.1041G>A (p.Met347Ile)
|
rs370114565
|
0.00001
|
NM_001754.5(RUNX1):c.11A>G (p.Asp4Gly)
|
rs534158221
|
0.00001
|
NM_001754.5(RUNX1):c.1229C>T (p.Ser410Leu)
|
rs1214667759
|
0.00001
|
NM_001754.5(RUNX1):c.1322T>G (p.Leu441Arg)
|
rs777551786
|
0.00001
|
NM_001754.5(RUNX1):c.1354G>A (p.Val452Met)
|
rs916623598
|
0.00001
|
NM_001754.5(RUNX1):c.1403C>T (p.Pro468Leu)
|
rs1034562071
|
0.00001
|
NM_001754.5(RUNX1):c.146C>T (p.Pro49Leu)
|
rs752298116
|
0.00001
|
NM_001754.5(RUNX1):c.182C>T (p.Pro61Leu)
|
rs769213771
|
0.00001
|
NM_001754.5(RUNX1):c.239A>C (p.Glu80Ala)
|
rs1313711063
|
0.00001
|
NM_001754.5(RUNX1):c.35C>T (p.Ser12Leu)
|
rs750755857
|
0.00001
|
NM_001754.5(RUNX1):c.367G>C (p.Asp123His)
|
rs373498347
|
0.00001
|
NM_001754.5(RUNX1):c.421T>G (p.Ser141Ala)
|
rs1182543054
|
0.00001
|
NM_001754.5(RUNX1):c.697C>T (p.Arg233Cys)
|
rs765528082
|
0.00001
|
NM_001754.5(RUNX1):c.764A>G (p.His255Arg)
|
rs746977462
|
0.00001
|
NM_001754.5(RUNX1):c.973C>T (p.Pro325Ser)
|
rs746531841
|
0.00001
|
NM_001844.5(COL2A1):c.-15G>T
|
rs886049450
|
0.00001
|
NM_001844.5(COL2A1):c.1057G>A (p.Ala353Thr)
|
rs781554389
|
0.00001
|
NM_001844.5(COL2A1):c.1757G>A (p.Arg586His)
|
rs371440147
|
0.00001
|
NM_001844.5(COL2A1):c.1855G>A (p.Glu619Lys)
|
rs1431778644
|
0.00001
|
NM_001844.5(COL2A1):c.1938T>C (p.Pro646=)
|
rs368641858
|
0.00001
|
NM_001844.5(COL2A1):c.1941+18C>T
|
rs753819738
|
0.00001
|
NM_001844.5(COL2A1):c.2091C>G (p.Pro697=)
|
rs762603514
|
0.00001
|
NM_001844.5(COL2A1):c.2156G>A (p.Arg719His)
|
rs535980544
|
0.00001
|
NM_001844.5(COL2A1):c.2281G>A (p.Ala761Thr)
|
rs751436440
|
0.00001
|
NM_001844.5(COL2A1):c.2286G>A (p.Gly762=)
|
rs371835359
|
0.00001
|
NM_001844.5(COL2A1):c.2304T>C (p.Gly768=)
|
rs925297712
|
0.00001
|
NM_001844.5(COL2A1):c.2410-11C>T
|
rs886049447
|
0.00001
|
NM_001844.5(COL2A1):c.2522C>T (p.Ala841Val)
|
rs762619684
|
0.00001
|
NM_001844.5(COL2A1):c.2795G>A (p.Arg932Gln)
|
rs570320774
|
0.00001
|
NM_001844.5(COL2A1):c.2805C>T (p.Ser935=)
|
rs948633441
|
0.00001
|
NM_001844.5(COL2A1):c.2909C>T (p.Pro970Leu)
|
rs371268468
|
0.00001
|
NM_001844.5(COL2A1):c.3111+5G>A
|
rs1429492734
|
0.00001
|
NM_001844.5(COL2A1):c.3160G>A (p.Val1054Ile)
|
rs371635111
|
0.00001
|
NM_001844.5(COL2A1):c.3244A>G (p.Thr1082Ala)
|
rs886049446
|
0.00001
|
NM_001844.5(COL2A1):c.3397C>T (p.Arg1133Cys)
|
rs1938732355
|
0.00001
|
NM_001844.5(COL2A1):c.3494C>T (p.Pro1165Leu)
|
rs374156023
|
0.00001
|
NM_001844.5(COL2A1):c.3575G>A (p.Arg1192Gln)
|
rs779252535
|
0.00001
|
NM_001844.5(COL2A1):c.3598-5T>C
|
rs1441411760
|
0.00001
|
NM_001844.5(COL2A1):c.3702C>A (p.Asp1234Glu)
|
rs891008017
|
0.00001
|
NM_001844.5(COL2A1):c.4093A>T (p.Asn1365Tyr)
|
rs202105427
|
0.00001
|
NM_001844.5(COL2A1):c.4264C>T (p.Arg1422Trp)
|
rs754466377
|
0.00001
|
NM_001844.5(COL2A1):c.4343C>G (p.Thr1448Ser)
|
rs1481212897
|
0.00001
|
NM_001844.5(COL2A1):c.512G>T (p.Gly171Val)
|
rs928430270
|
0.00001
|
NM_001844.5(COL2A1):c.711T>A (p.Gly237=)
|
rs764487245
|
0.00001
|
NM_001844.5(COL2A1):c.778C>T (p.Pro260Ser)
|
rs1470645150
|
0.00001
|
NM_001844.5(COL2A1):c.968T>A (p.Met323Lys)
|
rs1380248932
|
0.00001
|
NM_001851.6(COL9A1):c.1939A>C (p.Ser647Arg)
|
rs200194450
|
0.00001
|
NM_001851.6(COL9A1):c.2333C>T (p.Ala778Val)
|
rs767229176
|
0.00001
|
NM_001851.6(COL9A1):c.2552A>G (p.Asn851Ser)
|
rs578034223
|
0.00001
|
NM_001851.6(COL9A1):c.626G>A (p.Arg209Lys)
|
rs571441243
|
0.00001
|
NM_001852.4(COL9A2):c.*38G>A
|
rs547105794
|
0.00001
|
NM_001852.4(COL9A2):c.1474C>A (p.Pro492Thr)
|
rs1444649342
|
0.00001
|
NM_001852.4(COL9A2):c.1609C>T (p.Leu537=)
|
rs1057515453
|
0.00001
|
NM_001852.4(COL9A2):c.417+12C>T
|
rs371485028
|
0.00001
|
NM_001852.4(COL9A2):c.749G>C (p.Gly250Ala)
|
rs1202213496
|
0.00001
|
NM_001852.4(COL9A2):c.820G>A (p.Gly274Ser)
|
rs1443766012
|
0.00001
|
NM_001852.4(COL9A2):c.846+10C>T
|
rs1045951380
|
0.00001
|
NM_001852.4(COL9A2):c.900G>C (p.Thr300=)
|
rs752584833
|
0.00001
|
NM_001853.4(COL9A3):c.505G>A (p.Ala169Thr)
|
rs948698664
|
0.00001
|
NM_001853.4(COL9A3):c.920G>A (p.Gly307Asp)
|
rs1422176468
|
0.00001
|
NM_001854.4(COL11A1):c.1056G>A (p.Arg352=)
|
rs762727530
|
0.00001
|
NM_001854.4(COL11A1):c.2537C>T (p.Pro846Leu)
|
rs1308067070
|
0.00001
|
NM_001854.4(COL11A1):c.2610+9T>C
|
rs754222130
|
0.00001
|
NM_001854.4(COL11A1):c.2804C>A (p.Pro935His)
|
rs368422725
|
0.00001
|
NM_001854.4(COL11A1):c.2990G>A (p.Gly997Asp)
|
rs772357889
|
0.00001
|
NM_001854.4(COL11A1):c.862C>A (p.Pro288Thr)
|
rs748315186
|
0.00001
|
NM_001972.4(ELANE):c.427C>T (p.Arg143Cys)
|
rs199558534
|
0.00001
|
NM_001972.4(ELANE):c.442G>A (p.Gly148Arg)
|
rs774508567
|
0.00001
|
NM_001972.4(ELANE):c.555C>T (p.Asn185=)
|
rs765055351
|
0.00001
|
NM_001972.4(ELANE):c.756C>T (p.Asn252=)
|
rs2035678048
|
0.00001
|
NM_001972.4(ELANE):c.786G>A (p.Pro262=)
|
rs762273987
|
0.00001
|
NM_001999.4(FBN2):c.*1239A>G
|
rs765057642
|
0.00001
|
NM_001999.4(FBN2):c.*1315C>G
|
rs886059883
|
0.00001
|
NM_001999.4(FBN2):c.*244T>C
|
rs886059889
|
0.00001
|
NM_001999.4(FBN2):c.*745C>G
|
rs754492977
|
0.00001
|
NM_001999.4(FBN2):c.-219C>G
|
rs886059905
|
0.00001
|
NM_001999.4(FBN2):c.1120C>T (p.Arg374Cys)
|
rs759013590
|
0.00001
|
NM_001999.4(FBN2):c.1143G>T (p.Gly381=)
|
rs749428195
|
0.00001
|
NM_001999.4(FBN2):c.1240C>T (p.Arg414Cys)
|
rs1382726763
|
0.00001
|
NM_001999.4(FBN2):c.1286G>T (p.Ser429Ile)
|
rs749969520
|
0.00001
|
NM_001999.4(FBN2):c.1480A>T (p.Thr494Ser)
|
rs200850552
|
0.00001
|
NM_001999.4(FBN2):c.1502A>C (p.His501Pro)
|
rs773361111
|
0.00001
|
NM_001999.4(FBN2):c.1571G>T (p.Gly524Val)
|
rs753734866
|
0.00001
|
NM_001999.4(FBN2):c.1616G>A (p.Cys539Tyr)
|
rs1456682417
|
0.00001
|
NM_001999.4(FBN2):c.1724-7T>G
|
rs1490528227
|
0.00001
|
NM_001999.4(FBN2):c.1765G>A (p.Gly589Ser)
|
rs1057523294
|
0.00001
|
NM_001999.4(FBN2):c.1813G>A (p.Gly605Ser)
|
rs863223553
|
0.00001
|
NM_001999.4(FBN2):c.1903G>A (p.Glu635Lys)
|
rs138963610
|
0.00001
|
NM_001999.4(FBN2):c.2083C>T (p.Arg695Cys)
|
rs747447916
|
0.00001
|
NM_001999.4(FBN2):c.2099C>T (p.Thr700Ile)
|
rs773667668
|
0.00001
|
NM_001999.4(FBN2):c.2149C>T (p.Arg717Cys)
|
rs766945762
|
0.00001
|
NM_001999.4(FBN2):c.2294A>G (p.Asp765Gly)
|
rs1485036763
|
0.00001
|
NM_001999.4(FBN2):c.230G>T (p.Arg77Leu)
|
rs889066564
|
0.00001
|
NM_001999.4(FBN2):c.2489C>T (p.Pro830Leu)
|
rs547769591
|
0.00001
|
NM_001999.4(FBN2):c.2522A>G (p.Tyr841Cys)
|
rs762606715
|
0.00001
|
NM_001999.4(FBN2):c.2565A>C (p.Glu855Asp)
|
rs1751527556
|
0.00001
|
NM_001999.4(FBN2):c.257C>G (p.Pro86Arg)
|
rs749819006
|
0.00001
|
NM_001999.4(FBN2):c.2675A>G (p.Asp892Gly)
|
rs863223558
|
0.00001
|
NM_001999.4(FBN2):c.2716C>T (p.Arg906Cys)
|
rs763094104
|
0.00001
|
NM_001999.4(FBN2):c.2731A>G (p.Ile911Val)
|
rs368766120
|
0.00001
|
NM_001999.4(FBN2):c.2863+3G>A
|
rs762144935
|
0.00001
|
NM_001999.4(FBN2):c.29A>G (p.Gln10Arg)
|
rs547410742
|
0.00001
|
NM_001999.4(FBN2):c.3277A>G (p.Ile1093Val)
|
rs747248488
|
0.00001
|
NM_001999.4(FBN2):c.3304A>G (p.Ser1102Gly)
|
rs761012607
|
0.00001
|
NM_001999.4(FBN2):c.3401C>T (p.Thr1134Ile)
|
rs863223602
|
0.00001
|
NM_001999.4(FBN2):c.3430G>A (p.Glu1144Lys)
|
rs200060005
|
0.00001
|
NM_001999.4(FBN2):c.3495C>A (p.Asn1165Lys)
|
rs774250442
|
0.00001
|
NM_001999.4(FBN2):c.3514G>A (p.Gly1172Ser)
|
rs138303817
|
0.00001
|
NM_001999.4(FBN2):c.3559C>A (p.Leu1187Met)
|
rs375710546
|
0.00001
|
NM_001999.4(FBN2):c.3563G>A (p.Gly1188Glu)
|
rs748888503
|
0.00001
|
NM_001999.4(FBN2):c.3565C>T (p.His1189Tyr)
|
rs779690646
|
0.00001
|
NM_001999.4(FBN2):c.3577C>T (p.Pro1193Ser)
|
rs749905043
|
0.00001
|
NM_001999.4(FBN2):c.3581C>T (p.Ser1194Phe)
|
rs914081385
|
0.00001
|
NM_001999.4(FBN2):c.3583C>T (p.Arg1195Cys)
|
rs757232992
|
0.00001
|
NM_001999.4(FBN2):c.3660T>G (p.Ile1220Met)
|
rs558632824
|
0.00001
|
NM_001999.4(FBN2):c.3724+11A>G
|
rs886059900
|
0.00001
|
NM_001999.4(FBN2):c.3751G>A (p.Gly1251Arg)
|
rs1018550681
|
0.00001
|
NM_001999.4(FBN2):c.37T>C (p.Phe13Leu)
|
rs957639025
|
0.00001
|
NM_001999.4(FBN2):c.3925C>T (p.Leu1309Phe)
|
rs763595235
|
0.00001
|
NM_001999.4(FBN2):c.3932A>G (p.Tyr1311Cys)
|
rs762514246
|
0.00001
|
NM_001999.4(FBN2):c.3971T>C (p.Ile1324Thr)
|
rs150872093
|
0.00001
|
NM_001999.4(FBN2):c.4011G>A (p.Met1337Ile)
|
rs1231103337
|
0.00001
|
NM_001999.4(FBN2):c.4258A>G (p.Ser1420Gly)
|
rs1407868144
|
0.00001
|
NM_001999.4(FBN2):c.4352A>G (p.Asp1451Gly)
|
rs766483687
|
0.00001
|
NM_001999.4(FBN2):c.4402G>T (p.Val1468Phe)
|
rs199668238
|
0.00001
|
NM_001999.4(FBN2):c.4453G>A (p.Asp1485Asn)
|
rs187786356
|
0.00001
|
NM_001999.4(FBN2):c.4585A>G (p.Asn1529Asp)
|
rs1085307489
|
0.00001
|
NM_001999.4(FBN2):c.4608T>C (p.Cys1536=)
|
rs1176811808
|
0.00001
|
NM_001999.4(FBN2):c.460A>G (p.Met154Val)
|
rs878854475
|
0.00001
|
NM_001999.4(FBN2):c.4708G>T (p.Gly1570Cys)
|
rs1554121027
|
0.00001
|
NM_001999.4(FBN2):c.472A>T (p.Thr158Ser)
|
rs886059904
|
0.00001
|
NM_001999.4(FBN2):c.4751G>T (p.Gly1584Val)
|
rs770269667
|
0.00001
|
NM_001999.4(FBN2):c.4808G>A (p.Arg1603His)
|
rs751661259
|
0.00001
|
NM_001999.4(FBN2):c.4864C>A (p.Pro1622Thr)
|
rs750116860
|
0.00001
|
NM_001999.4(FBN2):c.5015G>A (p.Ser1672Asn)
|
rs1018411631
|
0.00001
|
NM_001999.4(FBN2):c.5063G>A (p.Arg1688His)
|
rs770803581
|
0.00001
|
NM_001999.4(FBN2):c.5074+5G>A
|
rs374651068
|
0.00001
|
NM_001999.4(FBN2):c.5120C>T (p.Thr1707Ile)
|
rs572030603
|
0.00001
|
NM_001999.4(FBN2):c.513T>G (p.Ile171Met)
|
rs1756603412
|
0.00001
|
NM_001999.4(FBN2):c.5174A>T (p.Gln1725Leu)
|
rs1402545685
|
0.00001
|
NM_001999.4(FBN2):c.5201-3T>C
|
rs1057521162
|
0.00001
|
NM_001999.4(FBN2):c.5224C>T (p.Arg1742Ter)
|
rs1178371653
|
0.00001
|
NM_001999.4(FBN2):c.5225G>A (p.Arg1742Gln)
|
rs774411234
|
0.00001
|
NM_001999.4(FBN2):c.5267A>G (p.Asn1756Ser)
|
rs760065931
|
0.00001
|
NM_001999.4(FBN2):c.52T>A (p.Cys18Ser)
|
rs1033004512
|
0.00001
|
NM_001999.4(FBN2):c.5303T>C (p.Val1768Ala)
|
rs779202876
|
0.00001
|
NM_001999.4(FBN2):c.5426T>C (p.Ile1809Thr)
|
rs766034866
|
0.00001
|
NM_001999.4(FBN2):c.5587C>T (p.Arg1863Trp)
|
rs1192632165
|
0.00001
|
NM_001999.4(FBN2):c.5692G>A (p.Glu1898Lys)
|
rs767932789
|
0.00001
|
NM_001999.4(FBN2):c.5701A>G (p.Asn1901Asp)
|
rs1010422106
|
0.00001
|
NM_001999.4(FBN2):c.5710A>C (p.Ser1904Arg)
|
rs1581202795
|
0.00001
|
NM_001999.4(FBN2):c.574G>A (p.Gly192Arg)
|
rs376398925
|
0.00001
|
NM_001999.4(FBN2):c.5800+10G>A
|
rs546373462
|
0.00001
|
NM_001999.4(FBN2):c.5801A>G (p.Asp1934Gly)
|
rs1554119542
|
0.00001
|
NM_001999.4(FBN2):c.5834A>G (p.Asn1945Ser)
|
rs863223578
|
0.00001
|
NM_001999.4(FBN2):c.5900A>G (p.His1967Arg)
|
rs1314671452
|
0.00001
|
NM_001999.4(FBN2):c.5921T>C (p.Ile1974Thr)
|
rs1060503501
|
0.00001
|
NM_001999.4(FBN2):c.5974A>G (p.Asn1992Asp)
|
rs1437992406
|
0.00001
|
NM_001999.4(FBN2):c.6002G>A (p.Cys2001Tyr)
|
rs878854476
|
0.00001
|
NM_001999.4(FBN2):c.6033C>G (p.Gly2011=)
|
rs749647897
|
0.00001
|
NM_001999.4(FBN2):c.6074G>A (p.Gly2025Asp)
|
rs547583705
|
0.00001
|
NM_001999.4(FBN2):c.6140A>G (p.Tyr2047Cys)
|
rs368453513
|
0.00001
|
NM_001999.4(FBN2):c.6148A>G (p.Lys2050Glu)
|
rs863223611
|
0.00001
|
NM_001999.4(FBN2):c.617A>T (p.Gln206Leu)
|
rs1207752455
|
0.00001
|
NM_001999.4(FBN2):c.6298C>T (p.Arg2100Cys)
|
rs1425263303
|
0.00001
|
NM_001999.4(FBN2):c.6438C>T (p.Asp2146=)
|
rs772832233
|
0.00001
|
NM_001999.4(FBN2):c.6445G>A (p.Val2149Ile)
|
rs1394667470
|
0.00001
|
NM_001999.4(FBN2):c.6512-3T>C
|
rs764271022
|
0.00001
|
NM_001999.4(FBN2):c.6609C>A (p.Asn2203Lys)
|
rs761101580
|
0.00001
|
NM_001999.4(FBN2):c.671T>C (p.Met224Thr)
|
rs886038798
|
0.00001
|
NM_001999.4(FBN2):c.6805A>G (p.Met2269Val)
|
rs943225631
|
0.00001
|
NM_001999.4(FBN2):c.680G>A (p.Gly227Glu)
|
rs760247833
|
0.00001
|
NM_001999.4(FBN2):c.681G>T (p.Gly227=)
|
rs772923075
|
0.00001
|
NM_001999.4(FBN2):c.6843T>G (p.Ile2281Met)
|
rs770011418
|
0.00001
|
NM_001999.4(FBN2):c.6919T>A (p.Ser2307Thr)
|
rs1208950525
|
0.00001
|
NM_001999.4(FBN2):c.6949G>A (p.Gly2317Ser)
|
rs863223613
|
0.00001
|
NM_001999.4(FBN2):c.6959T>C (p.Met2320Thr)
|
rs749681942
|
0.00001
|
NM_001999.4(FBN2):c.7145G>A (p.Arg2382Gln)
|
rs757161476
|
0.00001
|
NM_001999.4(FBN2):c.7256G>T (p.Gly2419Val)
|
rs762058983
|
0.00001
|
NM_001999.4(FBN2):c.7345+3A>G
|
rs776419198
|
0.00001
|
NM_001999.4(FBN2):c.734G>A (p.Arg245Gln)
|
rs747507457
|
0.00001
|
NM_001999.4(FBN2):c.73G>A (p.Gly25Ser)
|
rs763408652
|
0.00001
|
NM_001999.4(FBN2):c.7471+5C>T
|
rs369559870
|
0.00001
|
NM_001999.4(FBN2):c.7553C>T (p.Pro2518Leu)
|
rs776761421
|
0.00001
|
NM_001999.4(FBN2):c.7632G>T (p.Gln2544His)
|
rs1451291857
|
0.00001
|
NM_001999.4(FBN2):c.7654G>C (p.Gly2552Arg)
|
rs375790581
|
0.00001
|
NM_001999.4(FBN2):c.791G>A (p.Gly264Asp)
|
rs746046058
|
0.00001
|
NM_001999.4(FBN2):c.7960+5G>A
|
rs863223590
|
0.00001
|
NM_001999.4(FBN2):c.7985A>G (p.Asn2662Ser)
|
rs765867245
|
0.00001
|
NM_001999.4(FBN2):c.7987G>A (p.Ala2663Thr)
|
rs1245151549
|
0.00001
|
NM_001999.4(FBN2):c.798C>G (p.Ile266Met)
|
rs1754660877
|
0.00001
|
NM_001999.4(FBN2):c.8423A>G (p.Asn2808Ser)
|
rs772227931
|
0.00001
|
NM_001999.4(FBN2):c.8426T>C (p.Leu2809Pro)
|
rs863223591
|
0.00001
|
NM_001999.4(FBN2):c.8437G>A (p.Gly2813Ser)
|
rs199808954
|
0.00001
|
NM_001999.4(FBN2):c.8458G>A (p.Glu2820Lys)
|
rs752384882
|
0.00001
|
NM_001999.4(FBN2):c.8601A>G (p.Thr2867=)
|
rs542824837
|
0.00001
|
NM_001999.4(FBN2):c.8681A>C (p.Tyr2894Ser)
|
rs779659640
|
0.00001
|
NM_001999.4(FBN2):c.893C>G (p.Ser298Cys)
|
rs577855501
|
0.00001
|
NM_001999.4(FBN2):c.953-3T>A
|
rs1020574940
|
0.00001
|
NM_002296.4(LBR):c.1366C>G (p.Leu456Val)
|
rs377110126
|
0.00001
|
NM_002296.4(LBR):c.908T>A (p.Ile303Asn)
|
rs1165682529
|
0.00001
|
NM_002351.5(SH2D1A):c.273T>C (p.Asp91=)
|
rs775759946
|
0.00001
|
NM_002351.5(SH2D1A):c.7G>T (p.Ala3Ser)
|
rs148554414
|
0.00001
|
NM_002451.4(MTAP):c.*1093G>T
|
rs1825785660
|
0.00001
|
NM_002451.4(MTAP):c.*1399C>A
|
rs1825792275
|
0.00001
|
NM_002451.4(MTAP):c.*2183T>C
|
rs1825811023
|
0.00001
|
NM_002451.4(MTAP):c.*2286A>G
|
rs1825813138
|
0.00001
|
NM_002451.4(MTAP):c.*2606G>C
|
rs886063792
|
0.00001
|
NM_002451.4(MTAP):c.*3766C>T
|
rs149649469
|
0.00001
|
NM_002451.4(MTAP):c.*730A>G
|
rs1031531828
|
0.00001
|
NM_002451.4(MTAP):c.*912A>G
|
rs1825783181
|
0.00001
|
NM_002451.4(MTAP):c.-108_-103del
|
rs886063780
|
0.00001
|
NM_002474.3(MYH11):c.5483A>T (p.Glu1828Val)
|
rs1365841164
|
0.00001
|
NM_002609.4(PDGFRB):c.1378G>A (p.Glu460Lys)
|
rs202179598
|
0.00001
|
NM_002609.4(PDGFRB):c.1687G>A (p.Glu563Lys)
|
rs1483057981
|
0.00001
|
NM_002609.4(PDGFRB):c.1777T>C (p.Trp593Arg)
|
rs770027941
|
0.00001
|
NM_002609.4(PDGFRB):c.1804del (p.Leu602fs)
|
rs771859820
|
0.00001
|
NM_002609.4(PDGFRB):c.1853C>T (p.Thr618Met)
|
rs139554380
|
0.00001
|
NM_002609.4(PDGFRB):c.1978C>A (p.Pro660Thr)
|
rs144050370
|
0.00001
|
NM_002609.4(PDGFRB):c.2588C>A (p.Thr863Asn)
|
rs750896639
|
0.00001
|
NM_002609.4(PDGFRB):c.2954T>C (p.Ile985Thr)
|
rs753367645
|
0.00001
|
NM_002609.4(PDGFRB):c.3292C>T (p.Arg1098Trp)
|
rs267600485
|
0.00001
|
NM_002609.4(PDGFRB):c.419C>T (p.Thr140Met)
|
rs138830253
|
0.00001
|
NM_002609.4(PDGFRB):c.646G>A (p.Val216Ile)
|
rs370817438
|
0.00001
|
NM_002609.4(PDGFRB):c.875A>G (p.Asn292Ser)
|
rs1175765188
|
0.00001
|
NM_002609.4(PDGFRB):c.937A>G (p.Ser313Gly)
|
rs1580808180
|
0.00001
|
NM_002609.4(PDGFRB):c.94G>A (p.Gly32Ser)
|
rs761286709
|
0.00001
|
NM_002661.5(PLCG2):c.1072+4A>G
|
rs1461809343
|
0.00001
|
NM_002661.5(PLCG2):c.1194C>G (p.Ser398Arg)
|
rs1051315426
|
0.00001
|
NM_002661.5(PLCG2):c.1301C>T (p.Thr434Met)
|
rs757785924
|
0.00001
|
NM_002661.5(PLCG2):c.1306G>A (p.Ala436Thr)
|
rs1225918799
|
0.00001
|
NM_002661.5(PLCG2):c.1411A>C (p.Lys471Gln)
|
rs1250133694
|
0.00001
|
NM_002661.5(PLCG2):c.1427A>G (p.Lys476Arg)
|
rs781145125
|
0.00001
|
NM_002661.5(PLCG2):c.1467+3G>A
|
rs759974672
|
0.00001
|
NM_002661.5(PLCG2):c.1478G>A (p.Arg493Gln)
|
rs369542682
|
0.00001
|
NM_002661.5(PLCG2):c.1501G>T (p.Ala501Ser)
|
rs772234560
|
0.00001
|
NM_002661.5(PLCG2):c.1558G>T (p.Asp520Tyr)
|
rs1348054495
|
0.00001
|
NM_002661.5(PLCG2):c.1567C>G (p.Pro523Ala)
|
rs574435526
|
0.00001
|
NM_002661.5(PLCG2):c.1622C>T (p.Thr541Met)
|
rs767040629
|
0.00001
|
NM_002661.5(PLCG2):c.1634A>G (p.Lys545Arg)
|
rs1555519355
|
0.00001
|
NM_002661.5(PLCG2):c.1735C>T (p.Arg579Trp)
|
rs1324356186
|
0.00001
|
NM_002661.5(PLCG2):c.1745G>A (p.Arg582Gln)
|
rs200325678
|
0.00001
|
NM_002661.5(PLCG2):c.1783G>A (p.Gly595Arg)
|
rs758138167
|
0.00001
|
NM_002661.5(PLCG2):c.1799A>G (p.Tyr600Cys)
|
rs1909576451
|
0.00001
|
NM_002661.5(PLCG2):c.1840A>G (p.Ile614Val)
|
rs747542285
|
0.00001
|
NM_002661.5(PLCG2):c.1855G>A (p.Glu619Lys)
|
rs763166039
|
0.00001
|
NM_002661.5(PLCG2):c.1895C>T (p.Thr632Met)
|
rs565010144
|
0.00001
|
NM_002661.5(PLCG2):c.1934C>T (p.Pro645Leu)
|
rs781621510
|
0.00001
|
NM_002661.5(PLCG2):c.1986G>C (p.Arg662Ser)
|
rs1202954972
|
0.00001
|
NM_002661.5(PLCG2):c.202A>T (p.Met68Leu)
|
rs184409507
|
0.00001
|
NM_002661.5(PLCG2):c.2039A>G (p.Tyr680Cys)
|
rs758450563
|
0.00001
|
NM_002661.5(PLCG2):c.2055G>A (p.Arg685=)
|
rs762901904
|
0.00001
|
NM_002661.5(PLCG2):c.207A>C (p.Glu69Asp)
|
rs534845546
|
0.00001
|
NM_002661.5(PLCG2):c.2080C>T (p.Arg694Cys)
|
rs764736362
|
0.00001
|
NM_002661.5(PLCG2):c.2088C>G (p.Asn696Lys)
|
rs775025176
|
0.00001
|
NM_002661.5(PLCG2):c.2102A>G (p.His701Arg)
|
rs777219718
|
0.00001
|
NM_002661.5(PLCG2):c.2140G>A (p.Val714Met)
|
rs1477576619
|
0.00001
|
NM_002661.5(PLCG2):c.2152A>G (p.Ser718Gly)
|
rs767628464
|
0.00001
|
NM_002661.5(PLCG2):c.2186T>C (p.Met729Thr)
|
rs1420066208
|
0.00001
|
NM_002661.5(PLCG2):c.2209C>G (p.Pro737Ala)
|
rs748649938
|
0.00001
|
NM_002661.5(PLCG2):c.2224C>T (p.Arg742Cys)
|
rs776768909
|
0.00001
|
NM_002661.5(PLCG2):c.2236G>C (p.Glu746Gln)
|
rs1387006185
|
0.00001
|
NM_002661.5(PLCG2):c.2263G>A (p.Val755Ile)
|
rs758623675
|
0.00001
|
NM_002661.5(PLCG2):c.2296A>C (p.Asn766His)
|
rs955126333
|
0.00001
|
NM_002661.5(PLCG2):c.2351G>A (p.Arg784Gln)
|
rs1476399695
|
0.00001
|
NM_002661.5(PLCG2):c.2374C>T (p.Arg792Cys)
|
rs983424200
|
0.00001
|
NM_002661.5(PLCG2):c.2399C>G (p.Ser800Cys)
|
rs769337881
|
0.00001
|
NM_002661.5(PLCG2):c.2418-3C>T
|
rs1278551242
|
0.00001
|
NM_002661.5(PLCG2):c.2581+5G>A
|
rs769466948
|
0.00001
|
NM_002661.5(PLCG2):c.2659G>A (p.Glu887Lys)
|
rs1179741687
|
0.00001
|
NM_002661.5(PLCG2):c.2671G>A (p.Asp891Asn)
|
rs770349960
|
0.00001
|
NM_002661.5(PLCG2):c.2739+19G>A
|
rs776050949
|
0.00001
|
NM_002661.5(PLCG2):c.2739+4G>T
|
rs754078401
|
0.00001
|
NM_002661.5(PLCG2):c.2866C>T (p.Arg956Cys)
|
rs759995209
|
0.00001
|
NM_002661.5(PLCG2):c.2867G>A (p.Arg956His)
|
rs376030995
|
0.00001
|
NM_002661.5(PLCG2):c.2912C>T (p.Pro971Leu)
|
rs770381413
|
0.00001
|
NM_002661.5(PLCG2):c.292A>G (p.Ile98Val)
|
rs1273224701
|
0.00001
|
NM_002661.5(PLCG2):c.2931C>G (p.Tyr977Ter)
|
rs1016837424
|
0.00001
|
NM_002661.5(PLCG2):c.3002G>A (p.Arg1001His)
|
rs752209691
|
0.00001
|
NM_002661.5(PLCG2):c.3034C>T (p.Leu1012Phe)
|
rs1597143704
|
0.00001
|
NM_002661.5(PLCG2):c.304A>G (p.Thr102Ala)
|
rs991965495
|
0.00001
|
NM_002661.5(PLCG2):c.3092A>G (p.Asn1031Ser)
|
rs747605077
|
0.00001
|
NM_002661.5(PLCG2):c.3097C>T (p.Arg1033Cys)
|
rs376667295
|
0.00001
|
NM_002661.5(PLCG2):c.3098G>A (p.Arg1033His)
|
rs760293225
|
0.00001
|
NM_002661.5(PLCG2):c.3109G>A (p.Val1037Ile)
|
rs373561919
|
0.00001
|
NM_002661.5(PLCG2):c.3149C>T (p.Pro1050Leu)
|
rs372812991
|
0.00001
|
NM_002661.5(PLCG2):c.3151A>T (p.Met1051Leu)
|
rs771587263
|
0.00001
|
NM_002661.5(PLCG2):c.3185C>T (p.Thr1062Met)
|
rs767605816
|
0.00001
|
NM_002661.5(PLCG2):c.3211C>T (p.Arg1071Cys)
|
rs758678624
|
0.00001
|
NM_002661.5(PLCG2):c.3239T>A (p.Ile1080Asn)
|
rs747179742
|
0.00001
|
NM_002661.5(PLCG2):c.3263A>C (p.Glu1088Ala)
|
rs1426507749
|
0.00001
|
NM_002661.5(PLCG2):c.3291C>G (p.Asn1097Lys)
|
rs1910825289
|
0.00001
|
NM_002661.5(PLCG2):c.3308T>C (p.Val1103Ala)
|
rs1008211026
|
0.00001
|
NM_002661.5(PLCG2):c.335C>T (p.Ala112Val)
|
rs1329320173
|
0.00001
|
NM_002661.5(PLCG2):c.337+2T>C
|
rs866001196
|
0.00001
|
NM_002661.5(PLCG2):c.3388G>T (p.Ala1130Ser)
|
rs1003946385
|
0.00001
|
NM_002661.5(PLCG2):c.3393T>A (p.Phe1131Leu)
|
rs754374903
|
0.00001
|
NM_002661.5(PLCG2):c.3493G>A (p.Val1165Ile)
|
rs372557475
|
0.00001
|
NM_002661.5(PLCG2):c.3504G>T (p.Lys1168Asn)
|
rs1447212251
|
0.00001
|
NM_002661.5(PLCG2):c.3511T>C (p.Tyr1171His)
|
rs1567545409
|
0.00001
|
NM_002661.5(PLCG2):c.3523A>G (p.Ile1175Val)
|
rs368684142
|
0.00001
|
NM_002661.5(PLCG2):c.3563C>T (p.Pro1188Leu)
|
rs1354525679
|
0.00001
|
NM_002661.5(PLCG2):c.3569T>C (p.Leu1190Pro)
|
rs1287516481
|
0.00001
|
NM_002661.5(PLCG2):c.3575G>C (p.Ser1192Thr)
|
rs761797236
|
0.00001
|
NM_002661.5(PLCG2):c.3615G>C (p.Arg1205Ser)
|
rs1395093005
|
0.00001
|
NM_002661.5(PLCG2):c.3617G>A (p.Arg1206Gln)
|
rs373686679
|
0.00001
|
NM_002661.5(PLCG2):c.361A>C (p.Asn121His)
|
rs775430573
|
0.00001
|
NM_002661.5(PLCG2):c.3646C>A (p.Leu1216Met)
|
rs770521320
|
0.00001
|
NM_002661.5(PLCG2):c.3721C>T (p.Gln1241Ter)
|
rs1406944158
|
0.00001
|
NM_002661.5(PLCG2):c.3730C>G (p.Leu1244Val)
|
rs200800716
|
0.00001
|
NM_002661.5(PLCG2):c.3750C>G (p.Asn1250Lys)
|
rs1911592073
|
0.00001
|
NM_002661.5(PLCG2):c.3756-3C>T
|
rs377088921
|
0.00001
|
NM_002661.5(PLCG2):c.475A>C (p.Asn159His)
|
rs1275687800
|
0.00001
|
NM_002661.5(PLCG2):c.547C>T (p.Leu183Phe)
|
rs772451566
|
0.00001
|
NM_002661.5(PLCG2):c.617A>T (p.Tyr206Phe)
|
rs766231080
|
0.00001
|
NM_002661.5(PLCG2):c.628A>C (p.Met210Leu)
|
rs1367179036
|
0.00001
|
NM_002661.5(PLCG2):c.629T>C (p.Met210Thr)
|
rs201487295
|
0.00001
|
NM_002661.5(PLCG2):c.679G>A (p.Val227Met)
|
rs769793664
|
0.00001
|
NM_002661.5(PLCG2):c.689T>C (p.Leu230Pro)
|
rs762467148
|
0.00001
|
NM_002661.5(PLCG2):c.692+6G>A
|
rs1908049675
|
0.00001
|
NM_002661.5(PLCG2):c.692+7C>T
|
rs773842088
|
0.00001
|
NM_002661.5(PLCG2):c.743G>C (p.Arg248Thr)
|
rs1328979532
|
0.00001
|
NM_002661.5(PLCG2):c.765+5G>C
|
rs1400033523
|
0.00001
|
NM_002661.5(PLCG2):c.778C>G (p.Gln260Glu)
|
rs772517191
|
0.00001
|
NM_002661.5(PLCG2):c.784C>G (p.Leu262Val)
|
rs372563994
|
0.00001
|
NM_002661.5(PLCG2):c.803G>A (p.Arg268Gln)
|
rs1353126296
|
0.00001
|
NM_002661.5(PLCG2):c.827C>A (p.Thr276Asn)
|
rs1567517826
|
0.00001
|
NM_002661.5(PLCG2):c.839C>G (p.Thr280Ser)
|
rs757316414
|
0.00001
|
NM_002661.5(PLCG2):c.858T>G (p.Phe286Leu)
|
rs962152757
|
0.00001
|
NM_002661.5(PLCG2):c.867+5G>A
|
rs1377872536
|
0.00001
|
NM_002661.5(PLCG2):c.875C>T (p.Thr292Met)
|
rs772003833
|
0.00001
|
NM_002661.5(PLCG2):c.922G>A (p.Ala308Thr)
|
rs1382212475
|
0.00001
|
NM_002661.5(PLCG2):c.950C>T (p.Pro317Leu)
|
rs773116531
|
0.00001
|
NM_002834.5(PTPN11):c.1048T>G (p.Ser350Ala)
|
rs146571700
|
0.00001
|
NM_002834.5(PTPN11):c.1124A>G (p.Tyr375Cys)
|
rs41299183
|
0.00001
|
NM_002834.5(PTPN11):c.244A>G (p.Met82Val)
|
rs397507515
|
0.00001
|
NM_002834.5(PTPN11):c.289G>C (p.Glu97Gln)
|
rs397507516
|
0.00001
|
NM_002834.5(PTPN11):c.563A>G (p.Asp188Gly)
|
rs1436513335
|
0.00001
|
NM_002834.5(PTPN11):c.642G>A (p.Gln214=)
|
rs876661383
|
0.00001
|
NM_002834.5(PTPN11):c.931A>G (p.Met311Val)
|
rs774939392
|
0.00001
|
NM_002834.5(PTPN11):c.957C>T (p.Asn319=)
|
rs771407775
|
0.00001
|
NM_002860.4(ALDH18A1):c.991A>C (p.Thr331Pro)
|
rs765380273
|
0.00001
|
NM_003036.4(SKI):c.1006A>G (p.Thr336Ala)
|
rs1347876005
|
0.00001
|
NM_003036.4(SKI):c.1070G>A (p.Arg357Gln)
|
rs200874294
|
0.00001
|
NM_003036.4(SKI):c.1117C>T (p.Arg373Cys)
|
rs749507746
|
0.00001
|
NM_003036.4(SKI):c.116C>T (p.Ser39Leu)
|
rs746485528
|
0.00001
|
NM_003036.4(SKI):c.1193C>T (p.Pro398Leu)
|
rs776248526
|
0.00001
|
NM_003036.4(SKI):c.1243G>A (p.Val415Met)
|
rs770481744
|
0.00001
|
NM_003036.4(SKI):c.1247C>T (p.Ala416Val)
|
rs775044622
|
0.00001
|
NM_003036.4(SKI):c.1294A>G (p.Ser432Gly)
|
rs368739670
|
0.00001
|
NM_003036.4(SKI):c.1301C>T (p.Pro434Leu)
|
rs768068601
|
0.00001
|
NM_003036.4(SKI):c.1330G>A (p.Glu444Lys)
|
rs747693633
|
0.00001
|
NM_003036.4(SKI):c.1417G>A (p.Ala473Thr)
|
rs371772366
|
0.00001
|
NM_003036.4(SKI):c.1420C>G (p.Pro474Ala)
|
rs1057518494
|
0.00001
|
NM_003036.4(SKI):c.1474+4C>T
|
rs780930093
|
0.00001
|
NM_003036.4(SKI):c.149A>T (p.Glu50Val)
|
rs1158589836
|
0.00001
|
NM_003036.4(SKI):c.1505C>T (p.Pro502Leu)
|
rs1057520161
|
0.00001
|
NM_003036.4(SKI):c.1548G>A (p.Pro516=)
|
rs1239990628
|
0.00001
|
NM_003036.4(SKI):c.1562T>C (p.Leu521Pro)
|
rs1161295504
|
0.00001
|
NM_003036.4(SKI):c.1700T>C (p.Val567Ala)
|
rs887731777
|
0.00001
|
NM_003036.4(SKI):c.1735G>A (p.Ala579Thr)
|
rs370558210
|
0.00001
|
NM_003036.4(SKI):c.173C>G (p.Ala58Gly)
|
rs1638564960
|
0.00001
|
NM_003036.4(SKI):c.1767+6C>T
|
rs780191562
|
0.00001
|
NM_003036.4(SKI):c.1795A>G (p.Lys599Glu)
|
rs761706108
|
0.00001
|
NM_003036.4(SKI):c.2014G>A (p.Val672Met)
|
rs1339249855
|
0.00001
|
NM_003036.4(SKI):c.2026C>T (p.His676Tyr)
|
rs1376096484
|
0.00001
|
NM_003036.4(SKI):c.2029G>A (p.Ala677Thr)
|
rs1254335229
|
0.00001
|
NM_003036.4(SKI):c.2040C>G (p.Asp680Glu)
|
rs557791923
|
0.00001
|
NM_003036.4(SKI):c.2057C>A (p.Ala686Asp)
|
rs1216955747
|
0.00001
|
NM_003036.4(SKI):c.2058C>T (p.Ala686=)
|
rs1171554207
|
0.00001
|
NM_003036.4(SKI):c.2074C>T (p.Arg692Cys)
|
rs1341756519
|
0.00001
|
NM_003036.4(SKI):c.2084G>A (p.Arg695Gln)
|
rs1038419071
|
0.00001
|
NM_003036.4(SKI):c.2092C>T (p.Leu698=)
|
rs766929334
|
0.00001
|
NM_003036.4(SKI):c.2128T>C (p.Trp710Arg)
|
rs863223728
|
0.00001
|
NM_003036.4(SKI):c.2168C>A (p.Ala723Asp)
|
rs1264586139
|
0.00001
|
NM_003036.4(SKI):c.2171C>T (p.Ala724Val)
|
rs1553201577
|
0.00001
|
NM_003036.4(SKI):c.2175G>C (p.Glu725Asp)
|
rs1381348497
|
0.00001
|
NM_003036.4(SKI):c.235A>G (p.Ile79Val)
|
rs1638568678
|
0.00001
|
NM_003036.4(SKI):c.340G>A (p.Val114Met)
|
rs1165144413
|
0.00001
|
NM_003036.4(SKI):c.435G>C (p.Glu145Asp)
|
rs1221007732
|
0.00001
|
NM_003036.4(SKI):c.45G>A (p.Pro15=)
|
rs762947696
|
0.00001
|
NM_003036.4(SKI):c.461C>T (p.Thr154Met)
|
rs1275592565
|
0.00001
|
NM_003036.4(SKI):c.464C>G (p.Ala155Gly)
|
rs559020511
|
0.00001
|
NM_003036.4(SKI):c.495C>T (p.Gly165=)
|
rs749438586
|
0.00001
|
NM_003036.4(SKI):c.562G>A (p.Ala188Thr)
|
rs377092419
|
0.00001
|
NM_003036.4(SKI):c.795G>C (p.Lys265Asn)
|
rs1457407953
|
0.00001
|
NM_003036.4(SKI):c.919G>A (p.Val307Met)
|
rs775192483
|
0.00001
|
NM_003036.4(SKI):c.923A>G (p.Lys308Arg)
|
rs1276404635
|
0.00001
|
NM_003036.4(SKI):c.925G>A (p.Glu309Lys)
|
rs1553190080
|
0.00001
|
NM_003036.4(SKI):c.942C>T (p.Gly314=)
|
rs1245622958
|
0.00001
|
NM_003036.4(SKI):c.974C>T (p.Ser325Phe)
|
rs779414606
|
0.00001
|
NM_003036.4(SKI):c.986C>T (p.Pro329Leu)
|
rs1407167491
|
0.00001
|
NM_003183.6(ADAM17):c.1066C>T (p.Pro356Ser)
|
rs148983888
|
0.00001
|
NM_003183.6(ADAM17):c.110C>A (p.Ser37Tyr)
|
rs771131237
|
0.00001
|
NM_003183.6(ADAM17):c.1118T>A (p.Val373Asp)
|
rs781232281
|
0.00001
|
NM_003183.6(ADAM17):c.1120G>A (p.Gly374Arg)
|
rs199755899
|
0.00001
|
NM_003183.6(ADAM17):c.1139T>C (p.Leu380Ser)
|
rs1188689290
|
0.00001
|
NM_003183.6(ADAM17):c.1312A>G (p.Ile438Val)
|
rs776562188
|
0.00001
|
NM_003183.6(ADAM17):c.1327G>A (p.Asp443Asn)
|
rs777722013
|
0.00001
|
NM_003183.6(ADAM17):c.1344+6T>C
|
rs752978791
|
0.00001
|
NM_003183.6(ADAM17):c.143C>T (p.Ser48Phe)
|
rs781773909
|
0.00001
|
NM_003183.6(ADAM17):c.1442C>T (p.Ser481Leu)
|
rs760407268
|
0.00001
|
NM_003183.6(ADAM17):c.1510A>G (p.Ser504Gly)
|
rs201743292
|
0.00001
|
NM_003183.6(ADAM17):c.1513G>A (p.Asp505Asn)
|
rs372967979
|
0.00001
|
NM_003183.6(ADAM17):c.1610C>T (p.Ala537Val)
|
rs749866093
|
0.00001
|
NM_003183.6(ADAM17):c.163G>T (p.Val55Leu)
|
rs752745494
|
0.00001
|
NM_003183.6(ADAM17):c.1667C>T (p.Pro556Leu)
|
rs1394373815
|
0.00001
|
NM_003183.6(ADAM17):c.1729A>G (p.Lys577Glu)
|
rs759653644
|
0.00001
|
NM_003183.6(ADAM17):c.1747G>A (p.Glu583Lys)
|
rs780557617
|
0.00001
|
NM_003183.6(ADAM17):c.179T>C (p.Leu60Pro)
|
rs1361814499
|
0.00001
|
NM_003183.6(ADAM17):c.1819C>G (p.Leu607Val)
|
rs988994141
|
0.00001
|
NM_003183.6(ADAM17):c.1931G>A (p.Arg644Gln)
|
rs777431052
|
0.00001
|
NM_003183.6(ADAM17):c.194A>G (p.His65Arg)
|
rs774425802
|
0.00001
|
NM_003183.6(ADAM17):c.2105A>G (p.Tyr702Cys)
|
rs1662107386
|
0.00001
|
NM_003183.6(ADAM17):c.2172_2173insA (p.Arg725fs)
|
rs1257938701
|
0.00001
|
NM_003183.6(ADAM17):c.2191C>T (p.Pro731Ser)
|
rs889062988
|
0.00001
|
NM_003183.6(ADAM17):c.2195C>T (p.Ala732Val)
|
rs181463078
|
0.00001
|
NM_003183.6(ADAM17):c.2213G>A (p.Arg738His)
|
rs538865826
|
0.00001
|
NM_003183.6(ADAM17):c.2300G>A (p.Ser767Asn)
|
rs751381392
|
0.00001
|
NM_003183.6(ADAM17):c.231-3C>T
|
rs1394369977
|
0.00001
|
NM_003183.6(ADAM17):c.2320G>A (p.Glu774Lys)
|
rs753859098
|
0.00001
|
NM_003183.6(ADAM17):c.2389G>T (p.Asp797Tyr)
|
rs1228003788
|
0.00001
|
NM_003183.6(ADAM17):c.2437C>T (p.Arg813Cys)
|
rs764050476
|
0.00001
|
NM_003183.6(ADAM17):c.2438G>A (p.Arg813His)
|
rs760757602
|
0.00001
|
NM_003183.6(ADAM17):c.2446C>T (p.Arg816Cys)
|
rs752730764
|
0.00001
|
NM_003183.6(ADAM17):c.2452G>C (p.Asp818His)
|
rs142315365
|
0.00001
|
NM_003183.6(ADAM17):c.323C>A (p.Thr108Asn)
|
rs752645542
|
0.00001
|
NM_003183.6(ADAM17):c.362-11T>C
|
rs1664944582
|
0.00001
|
NM_003183.6(ADAM17):c.401A>C (p.Asp134Ala)
|
rs770400357
|
0.00001
|
NM_003183.6(ADAM17):c.433G>A (p.Ala145Thr)
|
rs777284700
|
0.00001
|
NM_003183.6(ADAM17):c.530G>A (p.Arg177His)
|
rs763442293
|
0.00001
|
NM_003183.6(ADAM17):c.652C>A (p.Pro218Thr)
|
rs373192089
|
0.00001
|
NM_003183.6(ADAM17):c.773T>C (p.Val258Ala)
|
rs994263495
|
0.00001
|
NM_003183.6(ADAM17):c.944A>G (p.Lys315Arg)
|
rs1664294967
|
0.00001
|
NM_003183.6(ADAM17):c.94C>G (p.Leu32Val)
|
rs779147649
|
0.00001
|
NM_003183.6(ADAM17):c.975A>G (p.Ile325Met)
|
rs1222914560
|
0.00001
|
NM_003183.6(ADAM17):c.980A>G (p.Glu327Gly)
|
rs779424893
|
0.00001
|
NM_003238.6(TGFB2):c.*1615T>C
|
rs886045987
|
0.00001
|
NM_003238.6(TGFB2):c.*1871C>T
|
rs1009327040
|
0.00001
|
NM_003238.6(TGFB2):c.*193A>C
|
rs1413240885
|
0.00001
|
NM_003238.6(TGFB2):c.*489A>G
|
rs558071814
|
0.00001
|
NM_003238.6(TGFB2):c.*782del
|
rs886045983
|
0.00001
|
NM_003238.6(TGFB2):c.*962A>G
|
rs886045984
|
0.00001
|
NM_003238.6(TGFB2):c.-1153G>T
|
rs886045959
|
0.00001
|
NM_003238.6(TGFB2):c.-540A>T
|
rs868385461
|
0.00001
|
NM_003238.6(TGFB2):c.-616G>A
|
rs1018085683
|
0.00001
|
NM_003238.6(TGFB2):c.-683C>A
|
rs886045962
|
0.00001
|
NM_003238.6(TGFB2):c.1052C>T (p.Pro351Leu)
|
rs773943154
|
0.00001
|
NM_003238.6(TGFB2):c.1141G>A (p.Val381Met)
|
rs376159002
|
0.00001
|
NM_003238.6(TGFB2):c.1181T>C (p.Ile394Thr)
|
rs886045980
|
0.00001
|
NM_003238.6(TGFB2):c.156T>G (p.Ser52Arg)
|
rs1431335293
|
0.00001
|
NM_003238.6(TGFB2):c.209T>C (p.Ile70Thr)
|
rs1027195424
|
0.00001
|
NM_003238.6(TGFB2):c.236A>G (p.Gln79Arg)
|
rs371241859
|
0.00001
|
NM_003238.6(TGFB2):c.305A>G (p.Glu102Gly)
|
rs967581444
|
0.00001
|
NM_003238.6(TGFB2):c.362C>G (p.Thr121Ser)
|
rs1300823855
|
0.00001
|
NM_003238.6(TGFB2):c.371G>A (p.Arg124Lys)
|
rs863223789
|
0.00001
|
NM_003238.6(TGFB2):c.37C>A (p.His13Asn)
|
rs763918203
|
0.00001
|
NM_003238.6(TGFB2):c.474A>T (p.Lys158Asn)
|
rs775251473
|
0.00001
|
NM_003238.6(TGFB2):c.493C>T (p.Arg165Trp)
|
rs773820426
|
0.00001
|
NM_003238.6(TGFB2):c.52G>A (p.Ala18Thr)
|
rs886045975
|
0.00001
|
NM_003238.6(TGFB2):c.548G>A (p.Arg183His)
|
rs773177511
|
0.00001
|
NM_003238.6(TGFB2):c.589G>A (p.Glu197Lys)
|
rs764028978
|
0.00001
|
NM_003238.6(TGFB2):c.686G>T (p.Cys229Phe)
|
rs1185241582
|
0.00001
|
NM_003238.6(TGFB2):c.751G>T (p.Ala251Ser)
|
rs769911912
|
0.00001
|
NM_003238.6(TGFB2):c.764G>A (p.Gly255Asp)
|
rs781514831
|
0.00001
|
NM_003238.6(TGFB2):c.773C>T (p.Thr258Ile)
|
rs373352179
|
0.00001
|
NM_003238.6(TGFB2):c.775T>G (p.Tyr259Asp)
|
rs1212341043
|
0.00001
|
NM_003238.6(TGFB2):c.817A>G (p.Lys273Glu)
|
rs1467391590
|
0.00001
|
NM_003238.6(TGFB2):c.826G>A (p.Gly276Arg)
|
rs1169804851
|
0.00001
|
NM_003238.6(TGFB2):c.893G>A (p.Arg298Gln)
|
rs762561484
|
0.00001
|
NM_003238.6(TGFB2):c.910T>G (p.Leu304Val)
|
rs1478901182
|
0.00001
|
NM_003238.6(TGFB2):c.918G>A (p.Ala306=)
|
rs767936611
|
0.00001
|
NM_003238.6(TGFB2):c.970A>G (p.Ile324Val)
|
rs866788278
|
0.00001
|
NM_003239.5(TGFB3):c.*495C>T
|
rs387906514
|
0.00001
|
NM_003239.5(TGFB3):c.1048T>A (p.Tyr350Asn)
|
rs1400200743
|
0.00001
|
NM_003239.5(TGFB3):c.1054C>T (p.Arg352Cys)
|
rs749485028
|
0.00001
|
NM_003239.5(TGFB3):c.1076G>C (p.Ser359Thr)
|
rs1474531974
|
0.00001
|
NM_003239.5(TGFB3):c.1079C>T (p.Thr360Met)
|
rs750299821
|
0.00001
|
NM_003239.5(TGFB3):c.1150G>A (p.Glu384Lys)
|
rs1304975316
|
0.00001
|
NM_003239.5(TGFB3):c.1175T>C (p.Val392Ala)
|
rs759168311
|
0.00001
|
NM_003239.5(TGFB3):c.11A>G (p.His4Arg)
|
rs371772819
|
0.00001
|
NM_003239.5(TGFB3):c.16C>G (p.Gln6Glu)
|
rs367967889
|
0.00001
|
NM_003239.5(TGFB3):c.230G>A (p.Arg77Gln)
|
rs1036545575
|
0.00001
|
NM_003239.5(TGFB3):c.289G>A (p.Glu97Lys)
|
rs769627183
|
0.00001
|
NM_003239.5(TGFB3):c.2T>A (p.Met1Lys)
|
rs1555361455
|
0.00001
|
NM_003239.5(TGFB3):c.389A>G (p.Lys130Arg)
|
rs780051351
|
0.00001
|
NM_003239.5(TGFB3):c.440T>G (p.Phe147Cys)
|
rs752691299
|
0.00001
|
NM_003239.5(TGFB3):c.443G>A (p.Arg148Gln)
|
rs776388495
|
0.00001
|
NM_003239.5(TGFB3):c.454C>T (p.Arg152Trp)
|
rs546744152
|
0.00001
|
NM_003239.5(TGFB3):c.463C>T (p.Arg155Trp)
|
rs868258653
|
0.00001
|
NM_003239.5(TGFB3):c.487C>T (p.Arg163Trp)
|
rs142601521
|
0.00001
|
NM_003239.5(TGFB3):c.521T>A (p.Leu174His)
|
rs869025534
|
0.00001
|
NM_003239.5(TGFB3):c.524G>A (p.Arg175Gln)
|
rs1319852054
|
0.00001
|
NM_003239.5(TGFB3):c.550C>T (p.Arg184Cys)
|
rs767125999
|
0.00001
|
NM_003239.5(TGFB3):c.56C>T (p.Thr19Met)
|
rs770761155
|
0.00001
|
NM_003239.5(TGFB3):c.580C>T (p.Arg194Trp)
|
rs368004396
|
0.00001
|
NM_003239.5(TGFB3):c.730G>A (p.Glu244Lys)
|
rs1085307755
|
0.00001
|
NM_003239.5(TGFB3):c.769G>T (p.Asp257Tyr)
|
rs2035184083
|
0.00001
|
NM_003239.5(TGFB3):c.77C>G (p.Thr26Ser)
|
rs771543236
|
0.00001
|
NM_003239.5(TGFB3):c.806A>G (p.Lys269Arg)
|
rs771638085
|
0.00001
|
NM_003239.5(TGFB3):c.812A>G (p.Lys271Arg)
|
rs2035183279
|
0.00001
|
NM_003239.5(TGFB3):c.82A>C (p.Thr28Pro)
|
rs564013964
|
0.00001
|
NM_003239.5(TGFB3):c.878A>C (p.Gln293Pro)
|
rs759234781
|
0.00001
|
NM_003239.5(TGFB3):c.914A>G (p.Asn305Ser)
|
rs369281541
|
0.00001
|
NM_003239.5(TGFB3):c.94T>A (p.Phe32Ile)
|
rs1194816649
|
0.00001
|
NM_003239.5(TGFB3):c.965T>C (p.Ile322Thr)
|
rs762643638
|
0.00001
|
NM_003242.6(TGFBR2):c.*1201C>T
|
rs886058318
|
0.00001
|
NM_003242.6(TGFBR2):c.*1465T>C
|
rs1171877784
|
0.00001
|
NM_003242.6(TGFBR2):c.*1887G>A
|
rs886058324
|
0.00001
|
NM_003242.6(TGFBR2):c.*1998G>A
|
rs886058325
|
0.00001
|
NM_003242.6(TGFBR2):c.*820G>A
|
rs1259248325
|
0.00001
|
NM_003242.6(TGFBR2):c.-117G>A
|
rs886058302
|
0.00001
|
NM_003242.6(TGFBR2):c.1153A>G (p.Ile385Val)
|
rs137908708
|
0.00001
|
NM_003242.6(TGFBR2):c.1207C>T (p.Arg403Cys)
|
rs886038960
|
0.00001
|
NM_003242.6(TGFBR2):c.1222C>A (p.Leu408Met)
|
rs770352403
|
0.00001
|
NM_003242.6(TGFBR2):c.1397A>T (p.Glu466Val)
|
rs1321865816
|
0.00001
|
NM_003242.6(TGFBR2):c.1471G>A (p.Val491Met)
|
rs754176932
|
0.00001
|
NM_003242.6(TGFBR2):c.1517A>G (p.Asn506Ser)
|
rs780087626
|
0.00001
|
NM_003242.6(TGFBR2):c.1525-10C>G
|
rs747069454
|
0.00001
|
NM_003242.6(TGFBR2):c.1546A>T (p.Thr516Ser)
|
rs370708687
|
0.00001
|
NM_003242.6(TGFBR2):c.1547C>T (p.Thr516Met)
|
rs149847376
|
0.00001
|
NM_003242.6(TGFBR2):c.1643C>T (p.Ser548Leu)
|
rs755070814
|
0.00001
|
NM_003242.6(TGFBR2):c.1645G>T (p.Gly549Trp)
|
rs748418894
|
0.00001
|
NM_003242.6(TGFBR2):c.1658C>T (p.Ser553Leu)
|
rs569635708
|
0.00001
|
NM_003242.6(TGFBR2):c.1681G>A (p.Gly561Ser)
|
rs768103695
|
0.00001
|
NM_003242.6(TGFBR2):c.403A>G (p.Met135Val)
|
rs377455599
|
0.00001
|
NM_003242.6(TGFBR2):c.412T>G (p.Cys138Gly)
|
rs863223838
|
0.00001
|
NM_003242.6(TGFBR2):c.43G>T (p.Val15Phe)
|
rs1182907194
|
0.00001
|
NM_003242.6(TGFBR2):c.505G>C (p.Gly169Arg)
|
rs759362407
|
0.00001
|
NM_003242.6(TGFBR2):c.54G>C (p.Thr18=)
|
rs139456857
|
0.00001
|
NM_003242.6(TGFBR2):c.556T>A (p.Phe186Ile)
|
rs368346624
|
0.00001
|
NM_003242.6(TGFBR2):c.578G>A (p.Arg193Gln)
|
rs748437880
|
0.00001
|
NM_003242.6(TGFBR2):c.619C>T (p.Arg207Trp)
|
rs775640617
|
0.00001
|
NM_003242.6(TGFBR2):c.621G>A (p.Arg207=)
|
rs886058304
|
0.00001
|
NM_003242.6(TGFBR2):c.640G>A (p.Glu214Lys)
|
rs764821003
|
0.00001
|
NM_003242.6(TGFBR2):c.670C>T (p.Arg224Cys)
|
rs748195637
|
0.00001
|
NM_003242.6(TGFBR2):c.740A>T (p.Asp247Val)
|
rs761231369
|
0.00001
|
NM_003242.6(TGFBR2):c.76C>T (p.Pro26Ser)
|
rs764160271
|
0.00001
|
NM_003242.6(TGFBR2):c.776A>G (p.Tyr259Cys)
|
rs767919854
|
0.00001
|
NM_003242.6(TGFBR2):c.803C>T (p.Ser268Leu)
|
rs139078984
|
0.00001
|
NM_003242.6(TGFBR2):c.842A>G (p.Tyr281Cys)
|
rs1210616464
|
0.00001
|
NM_003242.6(TGFBR2):c.94+16293C>A
|
rs138262219
|
0.00001
|
NM_003242.6(TGFBR2):c.95-10C>G
|
rs952006496
|
0.00001
|
NM_003242.6(TGFBR2):c.95-3679C>A
|
rs1312697004
|
0.00001
|
NM_003242.6(TGFBR2):c.953G>C (p.Gly318Ala)
|
rs754785934
|
0.00001
|
NM_003334.4(UBA1):c.521G>A (p.Arg174Gln)
|
rs1556787651
|
0.00001
|
NM_003664.5(AP3B1):c.1020G>A (p.Val340=)
|
rs145787996
|
0.00001
|
NM_003664.5(AP3B1):c.2968G>T (p.Glu990Ter)
|
rs1248215588
|
0.00001
|
NM_003664.5(AP3B1):c.2969A>T (p.Glu990Val)
|
rs1384216426
|
0.00001
|
NM_003664.5(AP3B1):c.3168G>T (p.Met1056Ile)
|
rs535976982
|
0.00001
|
NM_003664.5(AP3B1):c.3230C>T (p.Thr1077Ile)
|
rs773537846
|
0.00001
|
NM_003664.5(AP3B1):c.869C>T (p.Pro290Leu)
|
rs759296897
|
0.00001
|
NM_003977.4(AIP):c.115C>T (p.Arg39Trp)
|
rs781366620
|
0.00001
|
NM_003977.4(AIP):c.140G>A (p.Gly47Asp)
|
rs1164577485
|
0.00001
|
NM_003977.4(AIP):c.160C>T (p.Arg54Trp)
|
rs752553438
|
0.00001
|
NM_003977.4(AIP):c.166C>T (p.Arg56Cys)
|
rs267606538
|
0.00001
|
NM_003977.4(AIP):c.174G>C (p.Lys58Asn)
|
rs267606539
|
0.00001
|
NM_003977.4(AIP):c.316C>T (p.Arg106Cys)
|
rs369414668
|
0.00001
|
NM_003977.4(AIP):c.419C>T (p.Ala140Val)
|
rs762219351
|
0.00001
|
NM_003977.4(AIP):c.468+3G>A
|
rs868823652
|
0.00001
|
NM_003977.4(AIP):c.469-17T>C
|
rs886037872
|
0.00001
|
NM_003977.4(AIP):c.476G>A (p.Ser159Asn)
|
rs536239840
|
0.00001
|
NM_003977.4(AIP):c.571C>T (p.Arg191Cys)
|
rs189861025
|
0.00001
|
NM_003977.4(AIP):c.73C>T (p.Leu25Phe)
|
rs777083581
|
0.00001
|
NM_003977.4(AIP):c.745G>A (p.Glu249Lys)
|
rs1313811815
|
0.00001
|
NM_003977.4(AIP):c.79G>C (p.Asp27His)
|
rs1024903808
|
0.00001
|
NM_003977.4(AIP):c.944A>C (p.Gln315Pro)
|
rs886048585
|
0.00001
|
NM_003978.5(PSTPIP1):c.1015G>A (p.Glu339Lys)
|
rs372468528
|
0.00001
|
NM_003978.5(PSTPIP1):c.1043T>C (p.Ile348Thr)
|
rs1309288797
|
0.00001
|
NM_003978.5(PSTPIP1):c.1048G>A (p.Val350Met)
|
rs368482922
|
0.00001
|
NM_003978.5(PSTPIP1):c.1068C>G (p.Asn356Lys)
|
rs781251437
|
0.00001
|
NM_003978.5(PSTPIP1):c.1097C>T (p.Ala366Val)
|
rs773832598
|
0.00001
|
NM_003978.5(PSTPIP1):c.1106A>G (p.Asp369Gly)
|
rs1291828257
|
0.00001
|
NM_003978.5(PSTPIP1):c.1126G>A (p.Asp376Asn)
|
rs984709043
|
0.00001
|
NM_003978.5(PSTPIP1):c.1180G>A (p.Asp394Asn)
|
rs377006780
|
0.00001
|
NM_003978.5(PSTPIP1):c.1248T>C (p.Leu416=)
|
rs556322755
|
0.00001
|
NM_003978.5(PSTPIP1):c.146C>T (p.Ala49Val)
|
rs756426938
|
0.00001
|
NM_003978.5(PSTPIP1):c.155G>A (p.Arg52Gln)
|
rs751618284
|
0.00001
|
NM_003978.5(PSTPIP1):c.184C>T (p.Arg62Trp)
|
rs375063664
|
0.00001
|
NM_003978.5(PSTPIP1):c.212+5G>A
|
rs1280331114
|
0.00001
|
NM_003978.5(PSTPIP1):c.22A>G (p.Lys8Glu)
|
rs199800583
|
0.00001
|
NM_003978.5(PSTPIP1):c.253G>A (p.Glu85Lys)
|
rs1433818911
|
0.00001
|
NM_003978.5(PSTPIP1):c.29C>T (p.Ala10Val)
|
rs775041579
|
0.00001
|
NM_003978.5(PSTPIP1):c.316G>A (p.Glu106Lys)
|
rs1141039
|
0.00001
|
NM_003978.5(PSTPIP1):c.318G>C (p.Glu106Asp)
|
rs1415307232
|
0.00001
|
NM_003978.5(PSTPIP1):c.325C>T (p.Arg109Cys)
|
rs569030059
|
0.00001
|
NM_003978.5(PSTPIP1):c.36+10610A>G
|
rs2075813588
|
0.00001
|
NM_003978.5(PSTPIP1):c.364G>A (p.Val122Ile)
|
rs886041107
|
0.00001
|
NM_003978.5(PSTPIP1):c.395C>T (p.Ser132Leu)
|
rs777409558
|
0.00001
|
NM_003978.5(PSTPIP1):c.400T>C (p.Tyr134His)
|
rs374212404
|
0.00001
|
NM_003978.5(PSTPIP1):c.454G>C (p.Asp152His)
|
rs375932577
|
0.00001
|
NM_003978.5(PSTPIP1):c.475G>C (p.Glu159Gln)
|
rs886051493
|
0.00001
|
NM_003978.5(PSTPIP1):c.478C>A (p.Arg160Ser)
|
rs1397291808
|
0.00001
|
NM_003978.5(PSTPIP1):c.488C>T (p.Ala163Val)
|
rs774530073
|
0.00001
|
NM_003978.5(PSTPIP1):c.493G>A (p.Gly165Ser)
|
rs762291063
|
0.00001
|
NM_003978.5(PSTPIP1):c.503A>G (p.Lys168Arg)
|
rs770462479
|
0.00001
|
NM_003978.5(PSTPIP1):c.516+4C>A
|
rs752232834
|
0.00001
|
NM_003978.5(PSTPIP1):c.516+5G>A
|
rs997648680
|
0.00001
|
NM_003978.5(PSTPIP1):c.565C>T (p.Arg189Trp)
|
rs542018257
|
0.00001
|
NM_003978.5(PSTPIP1):c.575G>A (p.Arg192Lys)
|
rs760587319
|
0.00001
|
NM_003978.5(PSTPIP1):c.604C>T (p.Arg202Trp)
|
rs781549267
|
0.00001
|
NM_003978.5(PSTPIP1):c.629G>A (p.Arg210Gln)
|
rs776576205
|
0.00001
|
NM_003978.5(PSTPIP1):c.683G>A (p.Arg228His)
|
rs1386762740
|
0.00001
|
NM_003978.5(PSTPIP1):c.702C>G (p.His234Gln)
|
rs1420190742
|
0.00001
|
NM_003978.5(PSTPIP1):c.739G>A (p.Glu247Lys)
|
rs1283948312
|
0.00001
|
NM_003978.5(PSTPIP1):c.797A>G (p.Asp266Gly)
|
rs1333618864
|
0.00001
|
NM_003978.5(PSTPIP1):c.816G>C (p.Lys272Asn)
|
rs867312193
|
0.00001
|
NM_003978.5(PSTPIP1):c.831G>T (p.Glu277Asp)
|
rs990986006
|
0.00001
|
NM_003978.5(PSTPIP1):c.83G>A (p.Arg28Gln)
|
rs750445188
|
0.00001
|
NM_003978.5(PSTPIP1):c.86T>C (p.Leu29Pro)
|
rs1375790630
|
0.00001
|
NM_003978.5(PSTPIP1):c.881C>T (p.Pro294Leu)
|
rs756411737
|
0.00001
|
NM_003978.5(PSTPIP1):c.89_99del (p.Leu30fs)
|
rs1263340623
|
0.00001
|
NM_003978.5(PSTPIP1):c.929+5G>A
|
rs768632688
|
0.00001
|
NM_003978.5(PSTPIP1):c.949G>A (p.Gly317Arg)
|
rs557172402
|
0.00001
|
NM_003978.5(PSTPIP1):c.994G>A (p.Glu332Lys)
|
rs751889307
|
0.00001
|
NM_003978.5(PSTPIP1):c.997A>C (p.Thr333Pro)
|
rs746898326
|
0.00001
|
NM_004239.4(TRIP11):c.948A>C (p.Lys316Asn)
|
rs766465446
|
0.00001
|
NM_004273.5(CHST3):c.*1244G>T
|
rs886047168
|
0.00001
|
NM_004273.5(CHST3):c.*1256G>A
|
rs886047169
|
0.00001
|
NM_004273.5(CHST3):c.*1536G>A
|
rs376062544
|
0.00001
|
NM_004273.5(CHST3):c.*1960G>A
|
rs886047172
|
0.00001
|
NM_004273.5(CHST3):c.*2226A>G
|
rs886047175
|
0.00001
|
NM_004273.5(CHST3):c.*2592C>T
|
rs886047176
|
0.00001
|
NM_004273.5(CHST3):c.*4628A>C
|
rs886047182
|
0.00001
|
NM_004273.5(CHST3):c.*544C>T
|
rs886047161
|
0.00001
|
NM_004273.5(CHST3):c.*851T>C
|
rs886047163
|
0.00001
|
NM_004273.5(CHST3):c.543C>T (p.Ala181=)
|
rs778478785
|
0.00001
|
NM_004304.5(ALK):c.1193A>G (p.Asn398Ser)
|
rs754512910
|
0.00001
|
NM_004304.5(ALK):c.3271G>A (p.Asp1091Asn)
|
rs864309584
|
0.00001
|
NM_004327.4(BCR):c.1149C>T (p.Pro383=)
|
rs775817981
|
0.00001
|
NM_004327.4(BCR):c.685C>T (p.Pro229Ser)
|
rs1441856766
|
0.00001
|
NM_004364.5(CEBPA):c.1000G>C (p.Glu334Gln)
|
rs369632687
|
0.00001
|
NM_004364.5(CEBPA):c.1010C>T (p.Thr337Met)
|
rs760372994
|
0.00001
|
NM_004364.5(CEBPA):c.1019G>A (p.Gly340Asp)
|
rs1410617603
|
0.00001
|
NM_004364.5(CEBPA):c.1027C>T (p.Arg343Cys)
|
rs1439202716
|
0.00001
|
NM_004364.5(CEBPA):c.1073C>G (p.Ala358Gly)
|
rs577659401
|
0.00001
|
NM_004364.5(CEBPA):c.10G>T (p.Ala4Ser)
|
rs1415169403
|
0.00001
|
NM_004364.5(CEBPA):c.131C>T (p.Ala44Val)
|
rs1967197829
|
0.00001
|
NM_004364.5(CEBPA):c.134_163del (p.Pro45_Ile55delinsLeu)
|
rs1346240180
|
0.00001
|
NM_004364.5(CEBPA):c.139G>T (p.Ala47Ser)
|
rs1182161658
|
0.00001
|
NM_004364.5(CEBPA):c.152C>T (p.Pro51Leu)
|
rs1341205888
|
0.00001
|
NM_004364.5(CEBPA):c.179C>T (p.Thr60Met)
|
rs1060502119
|
0.00001
|
NM_004364.5(CEBPA):c.187G>A (p.Asp63Asn)
|
rs1452063514
|
0.00001
|
NM_004364.5(CEBPA):c.225C>G (p.Asp75Glu)
|
rs949548349
|
0.00001
|
NM_004364.5(CEBPA):c.246C>A (p.Phe82Leu)
|
rs917977456
|
0.00001
|
NM_004364.5(CEBPA):c.298G>A (p.Gly100Ser)
|
rs1289919155
|
0.00001
|
NM_004364.5(CEBPA):c.305G>A (p.Gly102Asp)
|
rs1358539228
|
0.00001
|
NM_004364.5(CEBPA):c.319G>T (p.Asp107Tyr)
|
rs1158593564
|
0.00001
|
NM_004364.5(CEBPA):c.325C>G (p.Pro109Ala)
|
rs1027991203
|
0.00001
|
NM_004364.5(CEBPA):c.331G>T (p.Ala111Ser)
|
rs996591962
|
0.00001
|
NM_004364.5(CEBPA):c.334C>G (p.Pro112Ala)
|
rs957253046
|
0.00001
|
NM_004364.5(CEBPA):c.368G>A (p.Gly123Glu)
|
rs1600023321
|
0.00001
|
NM_004364.5(CEBPA):c.373C>T (p.His125Tyr)
|
rs896656951
|
0.00001
|
NM_004364.5(CEBPA):c.379C>G (p.Pro127Ala)
|
rs1055210725
|
0.00001
|
NM_004364.5(CEBPA):c.382C>T (p.Pro128Ser)
|
rs1362518517
|
0.00001
|
NM_004364.5(CEBPA):c.40C>G (p.Pro14Ala)
|
rs1379627026
|
0.00001
|
NM_004364.5(CEBPA):c.413A>T (p.Tyr138Phe)
|
rs908433906
|
0.00001
|
NM_004364.5(CEBPA):c.45G>A (p.Met15Ile)
|
rs1366281839
|
0.00001
|
NM_004364.5(CEBPA):c.467G>A (p.Arg156Gln)
|
rs1198903435
|
0.00001
|
NM_004364.5(CEBPA):c.484C>A (p.Gln162Lys)
|
rs1967182561
|
0.00001
|
NM_004364.5(CEBPA):c.496G>A (p.Glu166Lys)
|
rs755311871
|
0.00001
|
NM_004364.5(CEBPA):c.51C>A (p.Ser17Arg)
|
rs1245499278
|
0.00001
|
NM_004364.5(CEBPA):c.529G>C (p.Gly177Arg)
|
rs1223584541
|
0.00001
|
NM_004364.5(CEBPA):c.532C>G (p.Leu178Val)
|
rs1325138029
|
0.00001
|
NM_004364.5(CEBPA):c.541T>C (p.Tyr181His)
|
rs1060502124
|
0.00001
|
NM_004364.5(CEBPA):c.547C>T (p.Pro183Ser)
|
rs998501847
|
0.00001
|
NM_004364.5(CEBPA):c.569C>T (p.Ser190Leu)
|
rs1555742114
|
0.00001
|
NM_004364.5(CEBPA):c.575C>T (p.Pro192Leu)
|
rs1247330890
|
0.00001
|
NM_004364.5(CEBPA):c.593C>T (p.Pro198Leu)
|
rs1568419736
|
0.00001
|
NM_004364.5(CEBPA):c.59A>G (p.Gln20Arg)
|
rs1329725504
|
0.00001
|
NM_004364.5(CEBPA):c.623T>C (p.Phe208Ser)
|
rs1347174767
|
0.00001
|
NM_004364.5(CEBPA):c.652A>G (p.Met218Val)
|
rs1378898437
|
0.00001
|
NM_004364.5(CEBPA):c.68C>T (p.Pro23Leu)
|
rs1308550194
|
0.00001
|
NM_004364.5(CEBPA):c.697C>A (p.Pro233Thr)
|
rs933936962
|
0.00001
|
NM_004364.5(CEBPA):c.733G>A (p.Gly245Ser)
|
rs1315043080
|
0.00001
|
NM_004364.5(CEBPA):c.734G>C (p.Gly245Ala)
|
rs1189516787
|
0.00001
|
NM_004364.5(CEBPA):c.754G>T (p.Ala252Ser)
|
rs1049967
|
0.00001
|
NM_004364.5(CEBPA):c.773C>G (p.Ala258Gly)
|
rs1340981881
|
0.00001
|
NM_004364.5(CEBPA):c.776C>T (p.Ala259Val)
|
rs746895795
|
0.00001
|
NM_004364.5(CEBPA):c.781C>T (p.Pro261Ser)
|
rs1263173603
|
0.00001
|
NM_004364.5(CEBPA):c.787C>T (p.Leu263Phe)
|
rs1357810737
|
0.00001
|
NM_004364.5(CEBPA):c.790C>T (p.Arg264Cys)
|
rs1228704709
|
0.00001
|
NM_004364.5(CEBPA):c.791G>C (p.Arg264Pro)
|
rs1294426980
|
0.00001
|
NM_004364.5(CEBPA):c.803G>T (p.Gly268Val)
|
rs780335632
|
0.00001
|
NM_004364.5(CEBPA):c.892A>C (p.Lys298Gln)
|
rs1392203731
|
0.00001
|
NM_004364.5(CEBPA):c.893A>G (p.Lys298Arg)
|
rs1391793930
|
0.00001
|
NM_004364.5(CEBPA):c.913C>A (p.Gln305Lys)
|
rs747606716
|
0.00001
|
NM_004364.5(CEBPA):c.983T>G (p.Val328Gly)
|
rs1422138876
|
0.00001
|
NM_004371.4(COPA):c.1054G>A (p.Val352Ile)
|
rs765356400
|
0.00001
|
NM_004371.4(COPA):c.1072C>T (p.Arg358Trp)
|
rs1465029263
|
0.00001
|
NM_004371.4(COPA):c.1220C>T (p.Ala407Val)
|
rs559332322
|
0.00001
|
NM_004371.4(COPA):c.1301C>T (p.Ser434Leu)
|
rs769707936
|
0.00001
|
NM_004371.4(COPA):c.1357T>C (p.Cys453Arg)
|
rs1471394621
|
0.00001
|
NM_004371.4(COPA):c.1396C>T (p.Leu466Phe)
|
rs1658787005
|
0.00001
|
NM_004371.4(COPA):c.1527C>T (p.His509=)
|
rs772265510
|
0.00001
|
NM_004371.4(COPA):c.154+6A>G
|
rs763734496
|
0.00001
|
NM_004371.4(COPA):c.1708G>A (p.Val570Ile)
|
rs1162410358
|
0.00001
|
NM_004371.4(COPA):c.1723G>A (p.Gly575Ser)
|
rs1658515221
|
0.00001
|
NM_004371.4(COPA):c.1873A>G (p.Ile625Val)
|
rs539596065
|
0.00001
|
NM_004371.4(COPA):c.1942C>T (p.Arg648Cys)
|
rs1049665620
|
0.00001
|
NM_004371.4(COPA):c.2086C>T (p.Arg696Cys)
|
rs1658458280
|
0.00001
|
NM_004371.4(COPA):c.2150G>A (p.Arg717His)
|
rs1051839166
|
0.00001
|
NM_004371.4(COPA):c.2273C>G (p.Ala758Gly)
|
rs941514851
|
0.00001
|
NM_004371.4(COPA):c.2809G>A (p.Glu937Lys)
|
rs552778606
|
0.00001
|
NM_004371.4(COPA):c.2993C>T (p.Ala998Val)
|
rs761919408
|
0.00001
|
NM_004371.4(COPA):c.3026G>A (p.Arg1009Gln)
|
rs761236399
|
0.00001
|
NM_004371.4(COPA):c.3258+4A>G
|
rs1235530043
|
0.00001
|
NM_004371.4(COPA):c.3380G>A (p.Arg1127His)
|
rs776528615
|
0.00001
|
NM_004371.4(COPA):c.3484A>G (p.Met1162Val)
|
rs1243134474
|
0.00001
|
NM_004371.4(COPA):c.3521G>A (p.Arg1174Gln)
|
rs772329332
|
0.00001
|
NM_004371.4(COPA):c.3650G>A (p.Arg1217Lys)
|
rs1322429024
|
0.00001
|
NM_004371.4(COPA):c.473C>G (p.Thr158Ser)
|
rs371954050
|
0.00001
|
NM_004371.4(COPA):c.529G>T (p.Val177Leu)
|
rs752416801
|
0.00001
|
NM_004371.4(COPA):c.779G>A (p.Arg260His)
|
rs1381216320
|
0.00001
|
NM_004371.4(COPA):c.863G>A (p.Arg288His)
|
rs781647709
|
0.00001
|
NM_004371.4(COPA):c.962G>A (p.Arg321Gln)
|
rs145706918
|
0.00001
|
NM_004612.4(TGFBR1):c.*1343T>C
|
rs11568810
|
0.00001
|
NM_004612.4(TGFBR1):c.*1910A>G
|
rs1251469176
|
0.00001
|
NM_004612.4(TGFBR1):c.*2409A>G
|
rs1268827179
|
0.00001
|
NM_004612.4(TGFBR1):c.*2791G>A
|
rs201846922
|
0.00001
|
NM_004612.4(TGFBR1):c.*2833G>A
|
rs200520116
|
0.00001
|
NM_004612.4(TGFBR1):c.*2880C>A
|
rs886063247
|
0.00001
|
NM_004612.4(TGFBR1):c.*2943A>G
|
rs937916276
|
0.00001
|
NM_004612.4(TGFBR1):c.*3056C>A
|
rs886063249
|
0.00001
|
NM_004612.4(TGFBR1):c.*3790C>T
|
rs201101442
|
0.00001
|
NM_004612.4(TGFBR1):c.*4219G>A
|
rs1022130561
|
0.00001
|
NM_004612.4(TGFBR1):c.*4295C>T
|
rs199650257
|
0.00001
|
NM_004612.4(TGFBR1):c.*441C>T
|
rs202012098
|
0.00001
|
NM_004612.4(TGFBR1):c.-31G>A
|
rs1404137226
|
0.00001
|
NM_004612.4(TGFBR1):c.1022T>C (p.Val341Ala)
|
rs1162682079
|
0.00001
|
NM_004612.4(TGFBR1):c.1211T>C (p.Met404Thr)
|
rs1241201708
|
0.00001
|
NM_004612.4(TGFBR1):c.1425G>T (p.Trp475Cys)
|
rs767589799
|
0.00001
|
NM_004612.4(TGFBR1):c.220G>A (p.Glu74Lys)
|
rs998268148
|
0.00001
|
NM_004612.4(TGFBR1):c.376C>G (p.Leu126Val)
|
rs756586874
|
0.00001
|
NM_004612.4(TGFBR1):c.434T>G (p.Val145Gly)
|
rs775267361
|
0.00001
|
NM_004612.4(TGFBR1):c.451C>T (p.Arg151Cys)
|
rs776680716
|
0.00001
|
NM_004612.4(TGFBR1):c.479A>G (p.Asn160Ser)
|
rs767785290
|
0.00001
|
NM_004612.4(TGFBR1):c.527C>T (p.Thr176Met)
|
rs745324433
|
0.00001
|
NM_004612.4(TGFBR1):c.666A>G (p.Gly222=)
|
rs886063223
|
0.00001
|
NM_004612.4(TGFBR1):c.844T>C (p.Tyr282His)
|
rs755827803
|
0.00001
|
NM_004612.4(TGFBR1):c.883T>A (p.Tyr295Asn)
|
rs200560562
|
0.00001
|
NM_004612.4(TGFBR1):c.889G>A (p.Val297Ile)
|
rs757284158
|
0.00001
|
NM_004612.4(TGFBR1):c.88G>C (p.Gly30Arg)
|
rs1826374374
|
0.00001
|
NM_004752.4(GCM2):c.116G>A (p.Arg39Gln)
|
rs534895356
|
0.00001
|
NM_004752.4(GCM2):c.1504A>C (p.Asn502His)
|
rs533942394
|
0.00001
|
NM_004895.4(NLRP3):c.*431G>A
|
rs1296786716
|
0.00001
|
NM_004895.4(NLRP3):c.*604A>C
|
rs1057515532
|
0.00001
|
NM_004944.4(DNASE1L3):c.115A>G (p.Lys39Glu)
|
rs1456163008
|
0.00001
|
NM_004944.4(DNASE1L3):c.304T>C (p.Tyr102His)
|
rs1397140992
|
0.00001
|
NM_004944.4(DNASE1L3):c.359A>G (p.His120Arg)
|
rs1282131721
|
0.00001
|
NM_005154.5(USP8):c.2108C>A (p.Pro703His)
|
rs766783893
|
0.00001
|
NM_005188.4(CBL):c.1028G>A (p.Arg343Gln)
|
rs759585425
|
0.00001
|
NM_005188.4(CBL):c.1227+5G>A
|
rs756550704
|
0.00001
|
NM_005188.4(CBL):c.1282C>T (p.Pro428Ser)
|
rs762677807
|
0.00001
|
NM_005188.4(CBL):c.1324C>A (p.Leu442Met)
|
rs200508558
|
0.00001
|
NM_005188.4(CBL):c.1455C>G (p.Phe485Leu)
|
rs369547447
|
0.00001
|
NM_005188.4(CBL):c.202C>T (p.Arg68Trp)
|
rs730880429
|
0.00001
|
NM_005188.4(CBL):c.2055A>G (p.Lys685=)
|
rs1454595224
|
0.00001
|
NM_005188.4(CBL):c.2086G>A (p.Glu696Lys)
|
rs539217274
|
0.00001
|
NM_005188.4(CBL):c.2401G>T (p.Gly801Cys)
|
rs1465141746
|
0.00001
|
NM_005188.4(CBL):c.2530A>C (p.Ser844Arg)
|
rs587778159
|
0.00001
|
NM_005188.4(CBL):c.2584G>A (p.Glu862Lys)
|
rs397507498
|
0.00001
|
NM_005188.4(CBL):c.572G>C (p.Arg191Thr)
|
rs756736832
|
0.00001
|
NM_005188.4(CBL):c.93C>A (p.Asp31Glu)
|
rs376679438
|
0.00001
|
NM_005228.5(EGFR):c.1690C>T (p.Pro564Ser)
|
rs773651001
|
0.00001
|
NM_005373.3(MPL):c.1169G>A (p.Arg390His)
|
rs1298113648
|
0.00001
|
NM_005373.3(MPL):c.1178C>T (p.Thr393Ile)
|
rs779132175
|
0.00001
|
NM_005373.3(MPL):c.1183A>G (p.Asn395Asp)
|
rs938821234
|
0.00001
|
NM_005373.3(MPL):c.1331C>A (p.Ala444Asp)
|
rs886046351
|
0.00001
|
NM_005373.3(MPL):c.1337G>A (p.Gly446Glu)
|
rs561724539
|
0.00001
|
NM_005373.3(MPL):c.1367G>C (p.Arg456Pro)
|
rs1207248925
|
0.00001
|
NM_005373.3(MPL):c.1442C>G (p.Thr481Ser)
|
rs1018549208
|
0.00001
|
NM_005373.3(MPL):c.1463A>G (p.Glu488Gly)
|
rs1328988667
|
0.00001
|
NM_005373.3(MPL):c.1544G>T (p.Trp515Leu)
|
rs121913615
|
0.00001
|
NM_005373.3(MPL):c.464A>T (p.Glu155Val)
|
rs780341646
|
0.00001
|
NM_005373.3(MPL):c.578G>A (p.Cys193Tyr)
|
rs1313333589
|
0.00001
|
NM_005373.3(MPL):c.809G>A (p.Gly270Glu)
|
rs1361284210
|
0.00001
|
NM_005529.7(HSPG2):c.12363C>T (p.Pro4121=)
|
rs761632172
|
0.00001
|
NM_005529.7(HSPG2):c.1355+5G>A
|
rs781394836
|
0.00001
|
NM_005529.7(HSPG2):c.1534C>T (p.Leu512=)
|
rs758125762
|
0.00001
|
NM_005529.7(HSPG2):c.5423G>A (p.Arg1808His)
|
rs561392976
|
0.00001
|
NM_005529.7(HSPG2):c.6706G>A (p.Glu2236Lys)
|
rs762159760
|
0.00001
|
NM_005529.7(HSPG2):c.6802G>A (p.Val2268Met)
|
rs1459395398
|
0.00001
|
NM_005529.7(HSPG2):c.8317-7T>C
|
rs773039564
|
0.00001
|
NM_005546.4(ITK):c.810A>G (p.Ala270=)
|
rs750585884
|
0.00001
|
NM_005902.4(SMAD3):c.*1159A>G
|
rs1002378365
|
0.00001
|
NM_005902.4(SMAD3):c.*1455G>C
|
rs1479158835
|
0.00001
|
NM_005902.4(SMAD3):c.*1819C>T
|
rs886051406
|
0.00001
|
NM_005902.4(SMAD3):c.*6del
|
rs772778568
|
0.00001
|
NM_005902.4(SMAD3):c.*804C>T
|
rs1217099486
|
0.00001
|
NM_005902.4(SMAD3):c.*925G>A
|
rs886051389
|
0.00001
|
NM_005902.4(SMAD3):c.1010-12T>C
|
rs773629535
|
0.00001
|
NM_005902.4(SMAD3):c.1059C>A (p.Ala353=)
|
rs767649515
|
0.00001
|
NM_005902.4(SMAD3):c.1129G>A (p.Val377Ile)
|
rs730880216
|
0.00001
|
NM_005902.4(SMAD3):c.175A>G (p.Asn59Asp)
|
rs745387614
|
0.00001
|
NM_005902.4(SMAD3):c.207-3C>A
|
rs757772685
|
0.00001
|
NM_005902.4(SMAD3):c.239G>A (p.Arg80Gln)
|
rs758823376
|
0.00001
|
NM_005902.4(SMAD3):c.268C>T (p.Arg90Cys)
|
rs1085307496
|
0.00001
|
NM_005902.4(SMAD3):c.341A>G (p.Asn114Ser)
|
rs369221296
|
0.00001
|
NM_005902.4(SMAD3):c.355G>A (p.Glu119Lys)
|
rs1165259401
|
0.00001
|
NM_005902.4(SMAD3):c.391G>C (p.Glu131Gln)
|
rs750982529
|
0.00001
|
NM_005902.4(SMAD3):c.401T>C (p.Val134Ala)
|
rs863223767
|
0.00001
|
NM_005902.4(SMAD3):c.424C>T (p.Arg142Cys)
|
rs1253901433
|
0.00001
|
NM_005902.4(SMAD3):c.455C>A (p.Pro152Gln)
|
rs375574124
|
0.00001
|
NM_005902.4(SMAD3):c.604G>A (p.Ala202Thr)
|
rs760091844
|
0.00001
|
NM_005902.4(SMAD3):c.643G>A (p.Ala215Thr)
|
rs1962721856
|
0.00001
|
NM_005902.4(SMAD3):c.657G>C (p.Leu219Phe)
|
rs886038567
|
0.00001
|
NM_005902.4(SMAD3):c.784G>A (p.Asp262Asn)
|
rs1201995588
|
0.00001
|
NM_005902.4(SMAD3):c.913G>A (p.Ala305Thr)
|
rs1348033858
|
0.00001
|
NM_006258.4(PRKG1):c.314C>T (p.Ser105Phe)
|
rs1368918637
|
0.00001
|
NM_006397.3(RNASEH2A):c.101A>G (p.Asp34Gly)
|
rs762516714
|
0.00001
|
NM_006397.3(RNASEH2A):c.110G>A (p.Gly37Asp)
|
rs11554405
|
0.00001
|
NM_006397.3(RNASEH2A):c.125T>C (p.Leu42Pro)
|
rs1482633002
|
0.00001
|
NM_006397.3(RNASEH2A):c.135G>A (p.Met45Ile)
|
rs1187283211
|
0.00001
|
NM_006397.3(RNASEH2A):c.142G>A (p.Ala48Thr)
|
rs777734868
|
0.00001
|
NM_006397.3(RNASEH2A):c.169C>G (p.Leu57Val)
|
rs775194617
|
0.00001
|
NM_006397.3(RNASEH2A):c.199+5G>T
|
rs1969004135
|
0.00001
|
NM_006397.3(RNASEH2A):c.229G>A (p.Glu77Lys)
|
rs771469429
|
0.00001
|
NM_006397.3(RNASEH2A):c.257C>T (p.Thr86Met)
|
rs193084598
|
0.00001
|
NM_006397.3(RNASEH2A):c.284T>C (p.Val95Ala)
|
rs754727728
|
0.00001
|
NM_006397.3(RNASEH2A):c.285G>A (p.Val95=)
|
rs374650162
|
0.00001
|
NM_006397.3(RNASEH2A):c.323+3G>A
|
rs780523288
|
0.00001
|
NM_006397.3(RNASEH2A):c.32C>T (p.Thr11Ile)
|
rs373265362
|
0.00001
|
NM_006397.3(RNASEH2A):c.332A>G (p.Tyr111Cys)
|
rs1254142641
|
0.00001
|
NM_006397.3(RNASEH2A):c.34G>A (p.Gly12Ser)
|
rs779298565
|
0.00001
|
NM_006397.3(RNASEH2A):c.361G>A (p.Ala121Thr)
|
rs753384166
|
0.00001
|
NM_006397.3(RNASEH2A):c.378G>C (p.Gln126His)
|
rs1182449523
|
0.00001
|
NM_006397.3(RNASEH2A):c.411+3G>C
|
rs749477709
|
0.00001
|
NM_006397.3(RNASEH2A):c.439G>C (p.Glu147Gln)
|
rs769486587
|
0.00001
|
NM_006397.3(RNASEH2A):c.452C>T (p.Ala151Val)
|
rs369325444
|
0.00001
|
NM_006397.3(RNASEH2A):c.454C>T (p.Arg152Trp)
|
rs942243073
|
0.00001
|
NM_006397.3(RNASEH2A):c.475G>A (p.Gly159Arg)
|
rs746950188
|
0.00001
|
NM_006397.3(RNASEH2A):c.490G>A (p.Val164Ile)
|
rs904903620
|
0.00001
|
NM_006397.3(RNASEH2A):c.516C>T (p.Tyr172=)
|
rs1415211346
|
0.00001
|
NM_006397.3(RNASEH2A):c.550G>A (p.Val184Met)
|
rs777679893
|
0.00001
|
NM_006397.3(RNASEH2A):c.55C>G (p.Pro19Ala)
|
rs1039519462
|
0.00001
|
NM_006397.3(RNASEH2A):c.569T>G (p.Val190Gly)
|
rs1969055468
|
0.00001
|
NM_006397.3(RNASEH2A):c.5A>G (p.Asp2Gly)
|
rs1489973272
|
0.00001
|
NM_006397.3(RNASEH2A):c.637+8G>A
|
rs757139110
|
0.00001
|
NM_006397.3(RNASEH2A):c.65C>T (p.Ala22Val)
|
rs768625813
|
0.00001
|
NM_006397.3(RNASEH2A):c.682T>C (p.Phe228Leu)
|
rs1220751647
|
0.00001
|
NM_006397.3(RNASEH2A):c.728C>T (p.Thr243Ile)
|
rs1969098175
|
0.00001
|
NM_006397.3(RNASEH2A):c.73C>T (p.Arg25Cys)
|
rs546042666
|
0.00001
|
NM_006397.3(RNASEH2A):c.760T>C (p.Trp254Arg)
|
rs757666508
|
0.00001
|
NM_006397.3(RNASEH2A):c.762-13C>G
|
rs781591228
|
0.00001
|
NM_006397.3(RNASEH2A):c.778G>A (p.Glu260Lys)
|
rs749242017
|
0.00001
|
NM_006397.3(RNASEH2A):c.800A>T (p.Lys267Met)
|
rs1337243889
|
0.00001
|
NM_006397.3(RNASEH2A):c.803T>C (p.Ile268Thr)
|
rs369098182
|
0.00001
|
NM_006397.3(RNASEH2A):c.828_831dup (p.Gln278fs)
|
rs780583621
|
0.00001
|
NM_006397.3(RNASEH2A):c.839G>A (p.Arg280His)
|
rs756346898
|
0.00001
|
NM_006397.3(RNASEH2A):c.844C>T (p.Arg282Cys)
|
rs142642923
|
0.00001
|
NM_006397.3(RNASEH2A):c.851C>T (p.Ser284Phe)
|
rs1474678539
|
0.00001
|
NM_006579.3(EBP):c.483G>A (p.Gly161=)
|
rs782627994
|
0.00001
|
NM_006929.4(SKIC2):c.-43T>C
|
rs886061303
|
0.00001
|
NM_006929.5(SKIC2):c.120G>A (p.Glu40=)
|
rs886061305
|
0.00001
|
NM_006929.5(SKIC2):c.1927C>T (p.Leu643Phe)
|
rs761742617
|
0.00001
|
NM_006929.5(SKIC2):c.1965G>C (p.Leu655=)
|
rs765798583
|
0.00001
|
NM_006929.5(SKIC2):c.2340+13G>A
|
rs777138745
|
0.00001
|
NM_006929.5(SKIC2):c.2464C>G (p.Gln822Glu)
|
rs1244150559
|
0.00001
|
NM_006929.5(SKIC2):c.2703C>T (p.Leu901=)
|
rs748012447
|
0.00001
|
NM_006929.5(SKIC2):c.3213G>A (p.Ala1071=)
|
rs374744199
|
0.00001
|
NM_006929.5(SKIC2):c.3310C>T (p.Arg1104Trp)
|
rs780107431
|
0.00001
|
NM_006929.5(SKIC2):c.3409C>T (p.Arg1137Cys)
|
rs553733225
|
0.00001
|
NM_006929.5(SKIC2):c.3711C>T (p.Ile1237=)
|
rs565424838
|
0.00001
|
NM_006929.5(SKIC2):c.382G>A (p.Ala128Thr)
|
rs1338384643
|
0.00001
|
NM_006929.5(SKIC2):c.422C>T (p.Ala141Val)
|
rs146543642
|
0.00001
|
NM_006929.5(SKIC2):c.901C>T (p.Pro301Ser)
|
rs565958554
|
0.00001
|
NM_006949.4(STXBP2):c.704G>A (p.Arg235Gln)
|
rs757488006
|
0.00001
|
NM_006949.4(STXBP2):c.922A>G (p.Arg308Gly)
|
rs1365138433
|
0.00001
|
NM_007194.4(CHEK2):c.1024G>A (p.Gly342Ser)
|
rs730881705
|
0.00001
|
NM_007194.4(CHEK2):c.1036C>T (p.Arg346Cys)
|
rs201206424
|
0.00001
|
NM_007194.4(CHEK2):c.1096-6T>G
|
rs1180195480
|
0.00001
|
NM_007194.4(CHEK2):c.1178C>T (p.Pro393Leu)
|
rs730881690
|
0.00001
|
NM_007194.4(CHEK2):c.1376-13A>G
|
rs1064793330
|
0.00001
|
NM_007194.4(CHEK2):c.1420C>T (p.Arg474Cys)
|
rs540635787
|
0.00001
|
NM_007194.4(CHEK2):c.1534C>G (p.Leu512Val)
|
rs17882942
|
0.00001
|
NM_007194.4(CHEK2):c.170C>T (p.Ser57Phe)
|
rs730881695
|
0.00001
|
NM_007194.4(CHEK2):c.434G>A (p.Arg145Gln)
|
rs587781667
|
0.00001
|
NM_007194.4(CHEK2):c.436A>C (p.Ile146Leu)
|
rs781678896
|
0.00001
|
NM_007194.4(CHEK2):c.565A>G (p.Ile189Val)
|
rs587780185
|
0.00001
|
NM_007194.4(CHEK2):c.906A>C (p.Glu302Asp)
|
rs587780190
|
0.00001
|
NM_012275.3(IL36RN):c.*1244A>G
|
rs1685693942
|
0.00001
|
NM_012275.3(IL36RN):c.*1258C>A
|
rs147788845
|
0.00001
|
NM_012275.3(IL36RN):c.*1585A>G
|
rs886054771
|
0.00001
|
NM_012275.3(IL36RN):c.*1891G>A
|
rs1330509196
|
0.00001
|
NM_012275.3(IL36RN):c.*426G>T
|
rs1165763738
|
0.00001
|
NM_012275.3(IL36RN):c.-28+1G>A
|
rs1440056356
|
0.00001
|
NM_012275.3(IL36RN):c.139A>G (p.Asn47Asp)
|
rs1685654399
|
0.00001
|
NM_012275.3(IL36RN):c.194G>A (p.Ser65Asn)
|
rs781328070
|
0.00001
|
NM_012275.3(IL36RN):c.200G>T (p.Cys67Phe)
|
rs1265230096
|
0.00001
|
NM_012275.3(IL36RN):c.277A>G (p.Lys93Glu)
|
rs746109701
|
0.00001
|
NM_012275.3(IL36RN):c.28C>T (p.Arg10Ter)
|
rs397514630
|
0.00001
|
NM_012275.3(IL36RN):c.304C>T (p.Arg102Trp)
|
rs199932303
|
0.00001
|
NM_012275.3(IL36RN):c.317G>C (p.Gly106Ala)
|
rs144420774
|
0.00001
|
NM_012275.3(IL36RN):c.333C>T (p.Phe111=)
|
rs199824136
|
0.00001
|
NM_012275.3(IL36RN):c.335dup (p.Ser113fs)
|
rs758050726
|
0.00001
|
NM_012275.3(IL36RN):c.368C>T (p.Thr123Met)
|
rs397514629
|
0.00001
|
NM_012275.3(IL36RN):c.381C>T (p.Ala127=)
|
rs760489144
|
0.00001
|
NM_012275.3(IL36RN):c.386A>G (p.Gln129Arg)
|
rs377330697
|
0.00001
|
NM_012275.3(IL36RN):c.458A>G (p.Gln153Arg)
|
rs771496493
|
0.00001
|
NM_014314.4(RIGI):c.1232C>T (p.Ser411Leu)
|
rs267602206
|
0.00001
|
NM_014639.4(SKIC3):c.4382A>G (p.Asp1461Gly)
|
rs766633696
|
0.00001
|
NM_015139.3(SLC35D1):c.392+7A>G
|
rs778524919
|
0.00001
|
NM_015139.3(SLC35D1):c.930G>A (p.Thr310=)
|
rs1314283727
|
0.00001
|
NM_015474.4(SAMHD1):c.1015C>T (p.Arg339Cys)
|
rs962672070
|
0.00001
|
NM_015474.4(SAMHD1):c.1016G>A (p.Arg339His)
|
rs201250022
|
0.00001
|
NM_015474.4(SAMHD1):c.101C>G (p.Pro34Arg)
|
rs2063734567
|
0.00001
|
NM_015474.4(SAMHD1):c.1033A>G (p.Asn345Asp)
|
rs1232169509
|
0.00001
|
NM_015474.4(SAMHD1):c.1034A>G (p.Asn345Ser)
|
rs1273114275
|
0.00001
|
NM_015474.4(SAMHD1):c.1042C>T (p.Arg348Cys)
|
rs761561066
|
0.00001
|
NM_015474.4(SAMHD1):c.1136G>A (p.Gly379Asp)
|
rs773888401
|
0.00001
|
NM_015474.4(SAMHD1):c.1193A>G (p.Glu398Gly)
|
rs916801950
|
0.00001
|
NM_015474.4(SAMHD1):c.1199C>T (p.Thr400Ile)
|
rs759140727
|
0.00001
|
NM_015474.4(SAMHD1):c.1222C>T (p.Arg408Cys)
|
rs776994886
|
0.00001
|
NM_015474.4(SAMHD1):c.1223G>A (p.Arg408His)
|
rs140417977
|
0.00001
|
NM_015474.4(SAMHD1):c.1247T>A (p.Met416Lys)
|
rs745950444
|
0.00001
|
NM_015474.4(SAMHD1):c.1258A>T (p.Thr420Ser)
|
rs754153159
|
0.00001
|
NM_015474.4(SAMHD1):c.1259C>G (p.Thr420Ser)
|
rs1233436073
|
0.00001
|
NM_015474.4(SAMHD1):c.1321G>A (p.Ala441Thr)
|
rs1311797673
|
0.00001
|
NM_015474.4(SAMHD1):c.143A>G (p.Glu48Gly)
|
rs145360072
|
0.00001
|
NM_015474.4(SAMHD1):c.1444A>G (p.Ser482Gly)
|
rs1451618642
|
0.00001
|
NM_015474.4(SAMHD1):c.1453C>T (p.Pro485Ser)
|
rs886645360
|
0.00001
|
NM_015474.4(SAMHD1):c.1499T>G (p.Val500Gly)
|
rs747437917
|
0.00001
|
NM_015474.4(SAMHD1):c.1597A>G (p.Thr533Ala)
|
rs770504610
|
0.00001
|
NM_015474.4(SAMHD1):c.1688A>G (p.Tyr563Cys)
|
rs6130037
|
0.00001
|
NM_015474.4(SAMHD1):c.1693G>A (p.Ala565Thr)
|
rs779491090
|
0.00001
|
NM_015474.4(SAMHD1):c.1725C>T (p.Asp575=)
|
rs1448113794
|
0.00001
|
NM_015474.4(SAMHD1):c.173G>A (p.Gly58Asp)
|
rs1568788278
|
0.00001
|
NM_015474.4(SAMHD1):c.1742C>T (p.Pro581Leu)
|
rs752755786
|
0.00001
|
NM_015474.4(SAMHD1):c.1798G>A (p.Asp600Asn)
|
rs761596589
|
0.00001
|
NM_015474.4(SAMHD1):c.188T>G (p.Val63Gly)
|
rs768245328
|
0.00001
|
NM_015474.4(SAMHD1):c.19G>A (p.Glu7Lys)
|
rs765628260
|
0.00001
|
NM_015474.4(SAMHD1):c.226G>T (p.Ala76Ser)
|
rs141599277
|
0.00001
|
NM_015474.4(SAMHD1):c.244G>A (p.Asp82Asn)
|
rs751790128
|
0.00001
|
NM_015474.4(SAMHD1):c.254G>A (p.Arg85His)
|
rs1274894909
|
0.00001
|
NM_015474.4(SAMHD1):c.290G>A (p.Arg97Lys)
|
rs758586131
|
0.00001
|
NM_015474.4(SAMHD1):c.43T>G (p.Cys15Gly)
|
rs1235922763
|
0.00001
|
NM_015474.4(SAMHD1):c.464A>G (p.Tyr155Cys)
|
rs1306109528
|
0.00001
|
NM_015474.4(SAMHD1):c.541G>A (p.Ala181Thr)
|
rs1455837248
|
0.00001
|
NM_015474.4(SAMHD1):c.546G>A (p.Leu182=)
|
rs748150321
|
0.00001
|
NM_015474.4(SAMHD1):c.562G>C (p.Glu188Gln)
|
rs781223072
|
0.00001
|
NM_015474.4(SAMHD1):c.610C>T (p.Leu204Phe)
|
rs1053324143
|
0.00001
|
NM_015474.4(SAMHD1):c.624C>T (p.Leu208=)
|
rs764763884
|
0.00001
|
NM_015474.4(SAMHD1):c.696G>T (p.Thr232=)
|
rs763408711
|
0.00001
|
NM_015474.4(SAMHD1):c.728A>C (p.His243Pro)
|
rs757614478
|
0.00001
|
NM_015474.4(SAMHD1):c.733A>G (p.Ile245Val)
|
rs754150741
|
0.00001
|
NM_015474.4(SAMHD1):c.840C>T (p.Val280=)
|
rs17853622
|
0.00001
|
NM_015474.4(SAMHD1):c.852+6T>C
|
rs1360565476
|
0.00001
|
NM_015474.4(SAMHD1):c.8G>T (p.Arg3Leu)
|
rs551472065
|
0.00001
|
NM_015474.4(SAMHD1):c.901G>C (p.Val301Leu)
|
rs1300702859
|
0.00001
|
NM_015474.4(SAMHD1):c.984T>G (p.Asn328Lys)
|
rs1351629453
|
0.00001
|
NM_015474.4(SAMHD1):c.998G>A (p.Arg333His)
|
rs755046462
|
0.00001
|
NM_015922.3(NSDHL):c.265C>G (p.Gln89Glu)
|
rs145580873
|
0.00001
|
NM_015922.3(NSDHL):c.979A>G (p.Met327Val)
|
rs1485303029
|
0.00001
|
NM_018699.3(PRDM5):c.-133T>C
|
rs886059046
|
0.00001
|
NM_018699.4(PRDM5):c.1379A>G (p.Lys460Arg)
|
rs371617787
|
0.00001
|
NM_018699.4(PRDM5):c.650+7A>G
|
rs751182540
|
0.00001
|
NM_018699.4(PRDM5):c.670A>T (p.Lys224Ter)
|
rs1064794819
|
0.00001
|
NM_020232.5(PSMG2):c.582-1G>A
|
rs763788988
|
0.00001
|
NM_020779.4(WDR35):c.2593G>A (p.Val865Met)
|
rs1032877870
|
0.00001
|
NM_020800.3(IFT80):c.13A>C (p.Ile5Leu)
|
rs184680258
|
0.00001
|
NM_021625.5(TRPV4):c.105C>T (p.Ser35=)
|
rs1167497327
|
0.00001
|
NM_021625.5(TRPV4):c.2142C>T (p.Leu714=)
|
rs751939888
|
0.00001
|
NM_021625.5(TRPV4):c.300G>A (p.Lys100=)
|
rs370135765
|
0.00001
|
NM_022124.6(CDH23):c.1305G>C (p.Glu435Asp)
|
rs770510708
|
0.00001
|
NM_022124.6(CDH23):c.1339A>G (p.Lys447Glu)
|
rs767345324
|
0.00001
|
NM_022124.6(CDH23):c.1607G>A (p.Arg536Gln)
|
rs376414013
|
0.00001
|
NM_022124.6(CDH23):c.1874G>A (p.Arg625His)
|
rs200907423
|
0.00001
|
NM_022124.6(CDH23):c.1886A>T (p.Tyr629Phe)
|
rs1297047638
|
0.00001
|
NM_022124.6(CDH23):c.2122T>G (p.Ser708Ala)
|
rs764332602
|
0.00001
|
NM_022124.6(CDH23):c.2189C>T (p.Thr730Ile)
|
rs755812129
|
0.00001
|
NM_022124.6(CDH23):c.2767G>A (p.Gly923Ser)
|
rs560251790
|
0.00001
|
NM_022124.6(CDH23):c.2870G>A (p.Arg957His)
|
rs748047907
|
0.00001
|
NM_022124.6(CDH23):c.3593T>C (p.Val1198Ala)
|
rs759990271
|
0.00001
|
NM_022124.6(CDH23):c.5852A>T (p.Asp1951Val)
|
rs1299758893
|
0.00001
|
NM_022124.6(CDH23):c.5945A>G (p.Asn1982Ser)
|
rs555432123
|
0.00001
|
NM_022124.6(CDH23):c.6323T>C (p.Ile2108Thr)
|
rs1198525214
|
0.00001
|
NM_022124.6(CDH23):c.6829+3A>G
|
rs780258798
|
0.00001
|
NM_022124.6(CDH23):c.7145G>A (p.Arg2382Gln)
|
rs759439688
|
0.00001
|
NM_022124.6(CDH23):c.8957T>C (p.Ile2986Thr)
|
rs753997469
|
0.00001
|
NM_022167.4(XYLT2):c.341C>T (p.Pro114Leu)
|
rs754863487
|
0.00001
|
NM_022168.4(IFIH1):c.1031A>G (p.Lys344Arg)
|
rs1682930814
|
0.00001
|
NM_022168.4(IFIH1):c.1069G>T (p.Gly357Ter)
|
rs768448518
|
0.00001
|
NM_022168.4(IFIH1):c.109T>C (p.Phe37Leu)
|
rs888356659
|
0.00001
|
NM_022168.4(IFIH1):c.1142T>C (p.Leu381Ser)
|
rs764148204
|
0.00001
|
NM_022168.4(IFIH1):c.1195T>C (p.Ser399Pro)
|
rs1408936117
|
0.00001
|
NM_022168.4(IFIH1):c.1219T>C (p.Cys407Arg)
|
rs769101700
|
0.00001
|
NM_022168.4(IFIH1):c.121G>C (p.Glu41Gln)
|
rs762115082
|
0.00001
|
NM_022168.4(IFIH1):c.1259C>T (p.Ser420Phe)
|
rs754807936
|
0.00001
|
NM_022168.4(IFIH1):c.1294G>T (p.Val432Phe)
|
rs1353805115
|
0.00001
|
NM_022168.4(IFIH1):c.1363A>G (p.Asn455Asp)
|
rs772981550
|
0.00001
|
NM_022168.4(IFIH1):c.1376G>A (p.Arg459Lys)
|
rs1031540879
|
0.00001
|
NM_022168.4(IFIH1):c.1429C>T (p.Pro477Ser)
|
rs1416059394
|
0.00001
|
NM_022168.4(IFIH1):c.1525-1G>A
|
rs774035953
|
0.00001
|
NM_022168.4(IFIH1):c.1552A>G (p.Ile518Val)
|
rs747683934
|
0.00001
|
NM_022168.4(IFIH1):c.155C>A (p.Thr52Asn)
|
rs1683546966
|
0.00001
|
NM_022168.4(IFIH1):c.1574T>C (p.Leu525Pro)
|
rs1390303966
|
0.00001
|
NM_022168.4(IFIH1):c.161G>C (p.Gly54Ala)
|
rs1683546841
|
0.00001
|
NM_022168.4(IFIH1):c.1625C>A (p.Ala542Glu)
|
rs1490646945
|
0.00001
|
NM_022168.4(IFIH1):c.1633A>G (p.Thr545Ala)
|
rs762899578
|
0.00001
|
NM_022168.4(IFIH1):c.1641+2T>C
|
rs747781178
|
0.00001
|
NM_022168.4(IFIH1):c.1672A>G (p.Met558Val)
|
rs756286361
|
0.00001
|
NM_022168.4(IFIH1):c.1710G>A (p.Met570Ile)
|
rs776280813
|
0.00001
|
NM_022168.4(IFIH1):c.1765+1G>A
|
rs1292220162
|
0.00001
|
NM_022168.4(IFIH1):c.1806A>T (p.Glu602Asp)
|
rs763549486
|
0.00001
|
NM_022168.4(IFIH1):c.180A>C (p.Glu60Asp)
|
rs777639035
|
0.00001
|
NM_022168.4(IFIH1):c.1889A>G (p.Tyr630Cys)
|
rs775623826
|
0.00001
|
NM_022168.4(IFIH1):c.1927G>T (p.Asp643Tyr)
|
rs376940981
|
0.00001
|
NM_022168.4(IFIH1):c.1958A>G (p.Tyr653Cys)
|
rs1213233883
|
0.00001
|
NM_022168.4(IFIH1):c.2015C>T (p.Thr672Ile)
|
rs527242746
|
0.00001
|
NM_022168.4(IFIH1):c.2017G>A (p.Asp673Asn)
|
rs746781048
|
0.00001
|
NM_022168.4(IFIH1):c.2090A>G (p.Glu697Gly)
|
rs775545790
|
0.00001
|
NM_022168.4(IFIH1):c.2122A>G (p.Ile708Val)
|
rs370796923
|
0.00001
|
NM_022168.4(IFIH1):c.217C>T (p.Leu73Phe)
|
rs1307616619
|
0.00001
|
NM_022168.4(IFIH1):c.2192C>T (p.Ala731Val)
|
rs766238091
|
0.00001
|
NM_022168.4(IFIH1):c.2242G>A (p.Gly748Arg)
|
rs764553894
|
0.00001
|
NM_022168.4(IFIH1):c.2282G>A (p.Ser761Asn)
|
rs1649189149
|
0.00001
|
NM_022168.4(IFIH1):c.2321T>A (p.Val774Asp)
|
rs1246892209
|
0.00001
|
NM_022168.4(IFIH1):c.2330A>G (p.Lys777Arg)
|
rs1286741340
|
0.00001
|
NM_022168.4(IFIH1):c.2356C>T (p.Leu786Phe)
|
rs759911216
|
0.00001
|
NM_022168.4(IFIH1):c.2368A>G (p.Thr790Ala)
|
rs770138422
|
0.00001
|
NM_022168.4(IFIH1):c.2398G>T (p.Glu800Ter)
|
rs1444920926
|
0.00001
|
NM_022168.4(IFIH1):c.2428G>A (p.Val810Ile)
|
rs763479773
|
0.00001
|
NM_022168.4(IFIH1):c.2448G>A (p.Met816Ile)
|
rs569872801
|
0.00001
|
NM_022168.4(IFIH1):c.2561T>G (p.Met854Arg)
|
rs138373022
|
0.00001
|
NM_022168.4(IFIH1):c.2570C>G (p.Ala857Gly)
|
rs746638759
|
0.00001
|
NM_022168.4(IFIH1):c.25G>A (p.Glu9Lys)
|
rs375179358
|
0.00001
|
NM_022168.4(IFIH1):c.2604G>T (p.Glu868Asp)
|
rs760907862
|
0.00001
|
NM_022168.4(IFIH1):c.2606A>G (p.Tyr869Cys)
|
rs752986445
|
0.00001
|
NM_022168.4(IFIH1):c.2684A>T (p.His895Leu)
|
rs948646167
|
0.00001
|
NM_022168.4(IFIH1):c.2690A>G (p.Lys897Arg)
|
rs772381153
|
0.00001
|
NM_022168.4(IFIH1):c.2714T>C (p.Phe905Ser)
|
rs371419955
|
0.00001
|
NM_022168.4(IFIH1):c.2724A>T (p.Lys908Asn)
|
rs750467622
|
0.00001
|
NM_022168.4(IFIH1):c.2733T>C (p.Ser911=)
|
rs767453829
|
0.00001
|
NM_022168.4(IFIH1):c.2750G>A (p.Gly917Glu)
|
rs1690961624
|
0.00001
|
NM_022168.4(IFIH1):c.2759T>A (p.Ile920Asn)
|
rs748895438
|
0.00001
|
NM_022168.4(IFIH1):c.2761C>T (p.His921Tyr)
|
rs1291159972
|
0.00001
|
NM_022168.4(IFIH1):c.2780A>G (p.His927Arg)
|
rs747311719
|
0.00001
|
NM_022168.4(IFIH1):c.2808-3T>C
|
rs1690950904
|
0.00001
|
NM_022168.4(IFIH1):c.281A>G (p.Tyr94Cys)
|
rs1325840950
|
0.00001
|
NM_022168.4(IFIH1):c.2831A>T (p.Asn944Ile)
|
rs1322389017
|
0.00001
|
NM_022168.4(IFIH1):c.2862T>G (p.Tyr954Ter)
|
rs750063177
|
0.00001
|
NM_022168.4(IFIH1):c.2898+5G>C
|
rs958493507
|
0.00001
|
NM_022168.4(IFIH1):c.3035A>G (p.Asn1012Ser)
|
rs931567064
|
0.00001
|
NM_022168.4(IFIH1):c.317C>T (p.Ser106Leu)
|
rs764380346
|
0.00001
|
NM_022168.4(IFIH1):c.328G>C (p.Ala110Pro)
|
rs1475589306
|
0.00001
|
NM_022168.4(IFIH1):c.331C>A (p.His111Asn)
|
rs760903088
|
0.00001
|
NM_022168.4(IFIH1):c.370dup (p.Thr124fs)
|
rs1414913745
|
0.00001
|
NM_022168.4(IFIH1):c.376G>A (p.Val126Met)
|
rs143910264
|
0.00001
|
NM_022168.4(IFIH1):c.37T>A (p.Tyr13Asn)
|
rs763796280
|
0.00001
|
NM_022168.4(IFIH1):c.411G>C (p.Lys137Asn)
|
rs1257535402
|
0.00001
|
NM_022168.4(IFIH1):c.453+1G>A
|
rs967571395
|
0.00001
|
NM_022168.4(IFIH1):c.481G>A (p.Glu161Lys)
|
rs1018886793
|
0.00001
|
NM_022168.4(IFIH1):c.485C>A (p.Ser162Ter)
|
rs1455983191
|
0.00001
|
NM_022168.4(IFIH1):c.524A>T (p.Glu175Val)
|
rs759418219
|
0.00001
|
NM_022168.4(IFIH1):c.566G>C (p.Gly189Ala)
|
rs898426581
|
0.00001
|
NM_022168.4(IFIH1):c.572A>G (p.Asn191Ser)
|
rs1255420302
|
0.00001
|
NM_022168.4(IFIH1):c.58G>A (p.Ala20Thr)
|
rs1160285695
|
0.00001
|
NM_022168.4(IFIH1):c.605G>A (p.Cys202Tyr)
|
rs1332221584
|
0.00001
|
NM_022168.4(IFIH1):c.613A>G (p.Ser205Gly)
|
rs1029888708
|
0.00001
|
NM_022168.4(IFIH1):c.62G>T (p.Arg21Met)
|
rs370024615
|
0.00001
|
NM_022168.4(IFIH1):c.643G>A (p.Val215Ile)
|
rs930052265
|
0.00001
|
NM_022168.4(IFIH1):c.644T>C (p.Val215Ala)
|
rs546097679
|
0.00001
|
NM_022168.4(IFIH1):c.683C>T (p.Thr228Ile)
|
rs746288754
|
0.00001
|
NM_022168.4(IFIH1):c.755C>A (p.Ser252Tyr)
|
rs370138586
|
0.00001
|
NM_022168.4(IFIH1):c.760G>A (p.Val254Ile)
|
rs1256109895
|
0.00001
|
NM_022168.4(IFIH1):c.77T>A (p.Ile26Asn)
|
rs1442046271
|
0.00001
|
NM_022168.4(IFIH1):c.802A>G (p.Ser268Gly)
|
rs1266267435
|
0.00001
|
NM_022168.4(IFIH1):c.818G>A (p.Ser273Asn)
|
rs1683037048
|
0.00001
|
NM_022168.4(IFIH1):c.866G>T (p.Ser289Ile)
|
rs1683036042
|
0.00001
|
NM_022455.5(NSD1):c.3352G>A (p.Asp1118Asn)
|
rs1348023231
|
0.00001
|
NM_023110.3(FGFR1):c.*112C>T
|
rs1189535138
|
0.00001
|
NM_023110.3(FGFR1):c.1072G>A (p.Val358Ile)
|
rs774768179
|
0.00001
|
NM_023110.3(FGFR1):c.1114C>T (p.Pro372Ser)
|
rs377648976
|
0.00001
|
NM_023110.3(FGFR1):c.128T>G (p.Phe43Cys)
|
rs1085307493
|
0.00001
|
NM_023110.3(FGFR1):c.1333C>T (p.Arg445Trp)
|
rs781608303
|
0.00001
|
NM_023110.3(FGFR1):c.1447C>T (p.Pro483Ser)
|
rs397515444
|
0.00001
|
NM_023110.3(FGFR1):c.166C>T (p.Arg56Trp)
|
rs1034848904
|
0.00001
|
NM_023110.3(FGFR1):c.1711G>A (p.Glu571Lys)
|
rs771720144
|
0.00001
|
NM_023110.3(FGFR1):c.173G>A (p.Arg58Gln)
|
rs200116660
|
0.00001
|
NM_023110.3(FGFR1):c.20T>G (p.Leu7Arg)
|
rs532741632
|
0.00001
|
NM_023110.3(FGFR1):c.2200C>T (p.Arg734Trp)
|
rs1329256283
|
0.00001
|
NM_023110.3(FGFR1):c.2350C>T (p.Arg784Trp)
|
rs377149398
|
0.00001
|
NM_023110.3(FGFR1):c.2370_2371del (p.Glu792fs)
|
rs767698667
|
0.00001
|
NM_023110.3(FGFR1):c.332C>T (p.Thr111Ile)
|
rs775020833
|
0.00001
|
NM_023110.3(FGFR1):c.346G>A (p.Val116Ile)
|
rs747842199
|
0.00001
|
NM_023110.3(FGFR1):c.381T>G (p.Asp127Glu)
|
rs750795714
|
0.00001
|
NM_023110.3(FGFR1):c.442C>T (p.Arg148Cys)
|
rs780153672
|
0.00001
|
NM_023110.3(FGFR1):c.443G>A (p.Arg148His)
|
rs515726222
|
0.00001
|
NM_023110.3(FGFR1):c.584A>G (p.Lys195Arg)
|
rs770139002
|
0.00001
|
NM_023110.3(FGFR1):c.8G>A (p.Ser3Asn)
|
rs751651299
|
0.00001
|
NM_024408.4(NOTCH2):c.1517A>G (p.Asn506Ser)
|
rs73004269
|
0.00001
|
NM_024408.4(NOTCH2):c.1978A>G (p.Met660Val)
|
rs1447605154
|
0.00001
|
NM_024408.4(NOTCH2):c.2142C>G (p.His714Gln)
|
rs1553198250
|
0.00001
|
NM_024408.4(NOTCH2):c.2323C>G (p.Leu775Val)
|
rs1230128244
|
0.00001
|
NM_024408.4(NOTCH2):c.2369A>G (p.Tyr790Cys)
|
rs782522898
|
0.00001
|
NM_024408.4(NOTCH2):c.2381T>C (p.Val794Ala)
|
rs782132637
|
0.00001
|
NM_024408.4(NOTCH2):c.2440A>G (p.Ile814Val)
|
rs782757612
|
0.00001
|
NM_024408.4(NOTCH2):c.2780T>G (p.Met927Arg)
|
rs782079844
|
0.00001
|
NM_024408.4(NOTCH2):c.2915C>T (p.Thr972Ile)
|
rs1650065665
|
0.00001
|
NM_024408.4(NOTCH2):c.2948A>G (p.His983Arg)
|
rs1403687128
|
0.00001
|
NM_024408.4(NOTCH2):c.2982-3T>C
|
rs1553196359
|
0.00001
|
NM_024408.4(NOTCH2):c.2993A>G (p.Asn998Ser)
|
rs782277113
|
0.00001
|
NM_024408.4(NOTCH2):c.3388G>A (p.Gly1130Ser)
|
rs782078365
|
0.00001
|
NM_024408.4(NOTCH2):c.3406C>G (p.Gln1136Glu)
|
rs1553195867
|
0.00001
|
NM_024408.4(NOTCH2):c.3466A>G (p.Asn1156Asp)
|
rs1649892979
|
0.00001
|
NM_024408.4(NOTCH2):c.3520G>A (p.Glu1174Lys)
|
rs782318679
|
0.00001
|
NM_024408.4(NOTCH2):c.3653G>A (p.Arg1218Gln)
|
rs138122751
|
0.00001
|
NM_024408.4(NOTCH2):c.3700C>T (p.His1234Tyr)
|
rs797044475
|
0.00001
|
NM_024408.4(NOTCH2):c.3701A>G (p.His1234Arg)
|
rs782254462
|
0.00001
|
NM_024408.4(NOTCH2):c.3895C>T (p.Arg1299Trp)
|
rs371580595
|
0.00001
|
NM_024408.4(NOTCH2):c.3908C>G (p.Thr1303Ser)
|
rs1359085444
|
0.00001
|
NM_024408.4(NOTCH2):c.4145C>A (p.Pro1382His)
|
rs1418033447
|
0.00001
|
NM_024408.4(NOTCH2):c.4177C>T (p.Arg1393Cys)
|
rs760072707
|
0.00001
|
NM_024408.4(NOTCH2):c.4244C>T (p.Thr1415Met)
|
rs758275919
|
0.00001
|
NM_024408.4(NOTCH2):c.4372A>G (p.Thr1458Ala)
|
rs1388647498
|
0.00001
|
NM_024408.4(NOTCH2):c.4733G>A (p.Arg1578His)
|
rs751299682
|
0.00001
|
NM_024408.4(NOTCH2):c.4741C>T (p.Arg1581Trp)
|
rs779822957
|
0.00001
|
NM_024408.4(NOTCH2):c.4778A>G (p.Tyr1593Cys)
|
rs587743026
|
0.00001
|
NM_024408.4(NOTCH2):c.4928C>T (p.Thr1643Met)
|
rs891328437
|
0.00001
|
NM_024408.4(NOTCH2):c.4964T>C (p.Ile1655Thr)
|
rs1475486687
|
0.00001
|
NM_024408.4(NOTCH2):c.5105G>A (p.Arg1702Gln)
|
rs999822357
|
0.00001
|
NM_024408.4(NOTCH2):c.5153G>A (p.Arg1718His)
|
rs774915799
|
0.00001
|
NM_024408.4(NOTCH2):c.5214-10A>G
|
rs761995764
|
0.00001
|
NM_024408.4(NOTCH2):c.5862G>A (p.Leu1954=)
|
rs746117178
|
0.00001
|
NM_024408.4(NOTCH2):c.6052G>T (p.Ala2018Ser)
|
rs886044278
|
0.00001
|
NM_024408.4(NOTCH2):c.6079A>G (p.Lys2027Glu)
|
rs1283460236
|
0.00001
|
NM_024408.4(NOTCH2):c.6160A>G (p.Met2054Val)
|
rs774262327
|
0.00001
|
NM_024408.4(NOTCH2):c.6251T>A (p.Ile2084Asn)
|
rs757880322
|
0.00001
|
NM_024408.4(NOTCH2):c.6264C>A (p.Asn2088Lys)
|
rs769574168
|
0.00001
|
NM_024408.4(NOTCH2):c.6310A>G (p.Arg2104Gly)
|
rs757743077
|
0.00001
|
NM_024408.4(NOTCH2):c.6334A>G (p.Met2112Val)
|
rs1237418902
|
0.00001
|
NM_024408.4(NOTCH2):c.6562G>A (p.Ala2188Thr)
|
rs139052054
|
0.00001
|
NM_024408.4(NOTCH2):c.6607A>C (p.Asn2203His)
|
rs773806339
|
0.00001
|
NM_024408.4(NOTCH2):c.686C>A (p.Pro229His)
|
rs781850215
|
0.00001
|
NM_024408.4(NOTCH2):c.6904C>G (p.Pro2302Ala)
|
rs764669567
|
0.00001
|
NM_024408.4(NOTCH2):c.6908C>A (p.Pro2303His)
|
rs1443569299
|
0.00001
|
NM_024408.4(NOTCH2):c.6911T>C (p.Ile2304Thr)
|
rs1370844431
|
0.00001
|
NM_024408.4(NOTCH2):c.6982T>C (p.Cys2328Arg)
|
rs757922369
|
0.00001
|
NM_024408.4(NOTCH2):c.7016T>C (p.Met2339Thr)
|
rs766624616
|
0.00001
|
NM_024408.4(NOTCH2):c.7198C>T (p.Arg2400Ter)
|
rs1325403451
|
0.00001
|
NM_024408.4(NOTCH2):c.7358G>A (p.Arg2453Gln)
|
rs145366664
|
0.00001
|
NM_024408.4(NOTCH2):c.760G>T (p.Gly254Trp)
|
rs1553202314
|
0.00001
|
NM_024408.4(NOTCH2):c.822T>G (p.Val274=)
|
rs782642000
|
0.00001
|
NM_024529.4(CDC73):c.-186C>G
|
rs886045710
|
0.00001
|
NM_024529.5(CDC73):c.*1292C>T
|
rs895043816
|
0.00001
|
NM_024529.5(CDC73):c.*1535A>G
|
rs1011765527
|
0.00001
|
NM_024529.5(CDC73):c.*1660A>G
|
rs1310867519
|
0.00001
|
NM_024529.5(CDC73):c.*2651T>G
|
rs886045730
|
0.00001
|
NM_024529.5(CDC73):c.*298A>T
|
rs1678035186
|
0.00001
|
NM_024529.5(CDC73):c.*3714T>C
|
rs886045737
|
0.00001
|
NM_024529.5(CDC73):c.*3783C>T
|
rs1337028451
|
0.00001
|
NM_024529.5(CDC73):c.*3785A>G
|
rs886045738
|
0.00001
|
NM_024529.5(CDC73):c.*3875A>G
|
rs1678100975
|
0.00001
|
NM_024529.5(CDC73):c.*972A>G
|
rs886045717
|
0.00001
|
NM_024529.5(CDC73):c.-121G>A
|
rs886045711
|
0.00001
|
NM_024529.5(CDC73):c.-135C>T
|
rs1675456932
|
0.00001
|
NM_024529.5(CDC73):c.-167A>G
|
rs1156904196
|
0.00001
|
NM_024529.5(CDC73):c.1011C>T (p.Ala337=)
|
rs372567546
|
0.00001
|
NM_024529.5(CDC73):c.1066+5G>A
|
rs1018448425
|
0.00001
|
NM_024529.5(CDC73):c.1081A>G (p.Ile361Val)
|
rs776519655
|
0.00001
|
NM_024529.5(CDC73):c.1137C>G (p.Asp379Glu)
|
rs774536123
|
0.00001
|
NM_024529.5(CDC73):c.1248C>T (p.Gly416=)
|
rs780906083
|
0.00001
|
NM_024529.5(CDC73):c.138A>T (p.Gly46=)
|
rs1572142522
|
0.00001
|
NM_024529.5(CDC73):c.1421A>G (p.Lys474Arg)
|
rs1678015324
|
0.00001
|
NM_024529.5(CDC73):c.1538G>A (p.Arg513Gln)
|
rs1465509067
|
0.00001
|
NM_024529.5(CDC73):c.1575T>G (p.His525Gln)
|
rs1378278674
|
0.00001
|
NM_024529.5(CDC73):c.364A>G (p.Thr122Ala)
|
rs763095800
|
0.00001
|
NM_024529.5(CDC73):c.534A>G (p.Ser178=)
|
rs150365980
|
0.00001
|
NM_024529.5(CDC73):c.754A>G (p.Ile252Val)
|
rs374290883
|
0.00001
|
NM_024529.5(CDC73):c.787C>T (p.Arg263Cys)
|
rs878855091
|
0.00001
|
NM_024529.5(CDC73):c.823C>T (p.Pro275Ser)
|
rs758391256
|
0.00001
|
NM_024529.5(CDC73):c.842G>A (p.Arg281His)
|
rs762716583
|
0.00001
|
NM_024529.5(CDC73):c.973-23487G>A
|
rs765816443
|
0.00001
|
NM_024570.4(RNASEH2B):c.*12T>C
|
rs773052815
|
0.00001
|
NM_024570.4(RNASEH2B):c.*159A>G
|
rs886050292
|
0.00001
|
NM_024570.4(RNASEH2B):c.*249T>C
|
rs886050293
|
0.00001
|
NM_024570.4(RNASEH2B):c.*29A>G
|
rs1200577478
|
0.00001
|
NM_024570.4(RNASEH2B):c.-181G>A
|
rs886050288
|
0.00001
|
NM_024570.4(RNASEH2B):c.111T>G (p.Phe37Leu)
|
rs1458234584
|
0.00001
|
NM_024570.4(RNASEH2B):c.127C>T (p.Pro43Ser)
|
rs762281569
|
0.00001
|
NM_024570.4(RNASEH2B):c.146C>T (p.Ala49Val)
|
rs1951648776
|
0.00001
|
NM_024570.4(RNASEH2B):c.173A>G (p.Gln58Arg)
|
rs759251667
|
0.00001
|
NM_024570.4(RNASEH2B):c.253C>T (p.Leu85Phe)
|
rs1262454987
|
0.00001
|
NM_024570.4(RNASEH2B):c.304A>G (p.Ile102Val)
|
rs761380890
|
0.00001
|
NM_024570.4(RNASEH2B):c.330T>G (p.Phe110Leu)
|
rs999474934
|
0.00001
|
NM_024570.4(RNASEH2B):c.412C>T (p.Leu138Phe)
|
rs78705382
|
0.00001
|
NM_024570.4(RNASEH2B):c.422T>C (p.Val141Ala)
|
rs1363075189
|
0.00001
|
NM_024570.4(RNASEH2B):c.428A>T (p.Glu143Val)
|
rs200535256
|
0.00001
|
NM_024570.4(RNASEH2B):c.429G>C (p.Glu143Asp)
|
rs754434417
|
0.00001
|
NM_024570.4(RNASEH2B):c.4G>C (p.Ala2Pro)
|
rs1161853513
|
0.00001
|
NM_024570.4(RNASEH2B):c.52T>A (p.Phe18Ile)
|
rs758877268
|
0.00001
|
NM_024570.4(RNASEH2B):c.562C>T (p.Arg188Trp)
|
rs765368182
|
0.00001
|
NM_024570.4(RNASEH2B):c.571T>A (p.Ser191Thr)
|
rs555463211
|
0.00001
|
NM_024570.4(RNASEH2B):c.58G>C (p.Val20Leu)
|
rs1028530418
|
0.00001
|
NM_024570.4(RNASEH2B):c.614A>G (p.Glu205Gly)
|
rs1015708068
|
0.00001
|
NM_024570.4(RNASEH2B):c.616+5del
|
rs1951890362
|
0.00001
|
NM_024570.4(RNASEH2B):c.628C>T (p.Arg210Cys)
|
rs769632378
|
0.00001
|
NM_024570.4(RNASEH2B):c.629G>A (p.Arg210His)
|
rs755705496
|
0.00001
|
NM_024570.4(RNASEH2B):c.659T>C (p.Ile220Thr)
|
rs747995413
|
0.00001
|
NM_024570.4(RNASEH2B):c.664A>G (p.Lys222Glu)
|
rs746153565
|
0.00001
|
NM_024570.4(RNASEH2B):c.782A>T (p.Asp261Val)
|
rs1307271194
|
0.00001
|
NM_024570.4(RNASEH2B):c.822+5G>A
|
rs761333168
|
0.00001
|
NM_024570.4(RNASEH2B):c.88A>G (p.Lys30Glu)
|
rs1395602025
|
0.00001
|
NM_024570.4(RNASEH2B):c.897C>A (p.Thr299=)
|
rs886050291
|
0.00001
|
NM_024570.4(RNASEH2B):c.902T>C (p.Phe301Ser)
|
rs780504013
|
0.00001
|
NM_024570.4(RNASEH2B):c.92T>C (p.Met31Thr)
|
rs542600186
|
0.00001
|
NM_024675.4(PALB2):c.3103A>G (p.Ile1035Val)
|
rs863224783
|
0.00001
|
NM_024675.4(PALB2):c.3494C>T (p.Ser1165Leu)
|
rs773829275
|
0.00001
|
NM_024753.5(TTC21B):c.3702T>C (p.Tyr1234=)
|
rs376746146
|
0.00001
|
NM_024753.5(TTC21B):c.946G>T (p.Ala316Ser)
|
rs1366178129
|
0.00001
|
NM_025132.4(WDR19):c.3368G>A (p.Arg1123Gln)
|
rs764512369
|
0.00001
|
NM_030777.4(SLC2A10):c.*1064G>A
|
rs917707348
|
0.00001
|
NM_030777.4(SLC2A10):c.*1394G>A
|
rs775775371
|
0.00001
|
NM_030777.4(SLC2A10):c.*182T>G
|
rs886056729
|
0.00001
|
NM_030777.4(SLC2A10):c.*1858T>G
|
rs886056735
|
0.00001
|
NM_030777.4(SLC2A10):c.*214T>G
|
rs764533992
|
0.00001
|
NM_030777.4(SLC2A10):c.*2482T>A
|
rs1414419618
|
0.00001
|
NM_030777.4(SLC2A10):c.*414G>T
|
rs1248315391
|
0.00001
|
NM_030777.4(SLC2A10):c.*608C>A
|
rs1485666222
|
0.00001
|
NM_030777.4(SLC2A10):c.-22A>G
|
rs886056723
|
0.00001
|
NM_030777.4(SLC2A10):c.1009G>A (p.Gly337Arg)
|
rs369238826
|
0.00001
|
NM_030777.4(SLC2A10):c.1014G>C (p.Gln338His)
|
rs35833600
|
0.00001
|
NM_030777.4(SLC2A10):c.1032C>T (p.Asp344=)
|
rs1301992983
|
0.00001
|
NM_030777.4(SLC2A10):c.1087C>G (p.Gln363Glu)
|
rs886038934
|
0.00001
|
NM_030777.4(SLC2A10):c.1096C>T (p.Pro366Ser)
|
rs774664650
|
0.00001
|
NM_030777.4(SLC2A10):c.110_121del (p.Gln37_Gly41delinsArg)
|
rs767211470
|
0.00001
|
NM_030777.4(SLC2A10):c.1274T>C (p.Phe425Ser)
|
rs546176728
|
0.00001
|
NM_030777.4(SLC2A10):c.1305C>T (p.Leu435=)
|
rs201159437
|
0.00001
|
NM_030777.4(SLC2A10):c.1423T>G (p.Leu475Val)
|
rs754355572
|
0.00001
|
NM_030777.4(SLC2A10):c.1426T>C (p.Ser476Pro)
|
rs750625663
|
0.00001
|
NM_030777.4(SLC2A10):c.142G>C (p.Glu48Gln)
|
rs1252274574
|
0.00001
|
NM_030777.4(SLC2A10):c.1439T>A (p.Leu480Gln)
|
rs1407824130
|
0.00001
|
NM_030777.4(SLC2A10):c.1457C>A (p.Ala486Asp)
|
rs775211875
|
0.00001
|
NM_030777.4(SLC2A10):c.1606G>A (p.Glu536Lys)
|
rs1238866581
|
0.00001
|
NM_030777.4(SLC2A10):c.1611C>G (p.Ile537Met)
|
rs1060502314
|
0.00001
|
NM_030777.4(SLC2A10):c.163C>T (p.Leu55Phe)
|
rs745611450
|
0.00001
|
NM_030777.4(SLC2A10):c.170G>T (p.Gly57Val)
|
rs369796310
|
0.00001
|
NM_030777.4(SLC2A10):c.173C>T (p.Ala58Val)
|
rs141310869
|
0.00001
|
NM_030777.4(SLC2A10):c.259G>A (p.Ala87Thr)
|
rs1319096126
|
0.00001
|
NM_030777.4(SLC2A10):c.311G>A (p.Gly104Asp)
|
rs1060502311
|
0.00001
|
NM_030777.4(SLC2A10):c.367G>A (p.Val123Met)
|
rs770619266
|
0.00001
|
NM_030777.4(SLC2A10):c.368T>C (p.Val123Ala)
|
rs1309491576
|
0.00001
|
NM_030777.4(SLC2A10):c.389G>A (p.Arg130Gln)
|
rs1438650724
|
0.00001
|
NM_030777.4(SLC2A10):c.432C>T (p.Thr144=)
|
rs371344477
|
0.00001
|
NM_030777.4(SLC2A10):c.455C>T (p.Ala152Val)
|
rs775987124
|
0.00001
|
NM_030777.4(SLC2A10):c.475G>T (p.Gly159Cys)
|
rs761947206
|
0.00001
|
NM_030777.4(SLC2A10):c.501G>A (p.Met167Ile)
|
rs763979126
|
0.00001
|
NM_030777.4(SLC2A10):c.505G>A (p.Gly169Ser)
|
rs35151194
|
0.00001
|
NM_030777.4(SLC2A10):c.517G>A (p.Ala173Thr)
|
rs1060502312
|
0.00001
|
NM_030777.4(SLC2A10):c.577G>A (p.Ala193Thr)
|
rs780965802
|
0.00001
|
NM_030777.4(SLC2A10):c.589G>T (p.Asp197Tyr)
|
rs761874387
|
0.00001
|
NM_030777.4(SLC2A10):c.601C>T (p.Leu201Phe)
|
rs199861432
|
0.00001
|
NM_030777.4(SLC2A10):c.613G>A (p.Glu205Lys)
|
rs917083925
|
0.00001
|
NM_030777.4(SLC2A10):c.646T>A (p.Tyr216Asn)
|
rs1269438372
|
0.00001
|
NM_030777.4(SLC2A10):c.67G>A (p.Gly23Ser)
|
rs760225405
|
0.00001
|
NM_030777.4(SLC2A10):c.697A>C (p.Thr233Pro)
|
rs190252962
|
0.00001
|
NM_030777.4(SLC2A10):c.727C>A (p.Gln243Lys)
|
rs1434246419
|
0.00001
|
NM_030777.4(SLC2A10):c.810G>C (p.Val270=)
|
rs774452914
|
0.00001
|
NM_030777.4(SLC2A10):c.826C>A (p.Leu276Ile)
|
rs760309737
|
0.00001
|
NM_030777.4(SLC2A10):c.886C>T (p.Arg296Cys)
|
rs552106000
|
0.00001
|
NM_030777.4(SLC2A10):c.995T>C (p.Val332Ala)
|
rs570363463
|
0.00001
|
NM_031229.4(RBCK1):c.1091G>A (p.Arg364His)
|
rs562488006
|
0.00001
|
NM_031229.4(RBCK1):c.113G>A (p.Arg38Gln)
|
rs773934109
|
0.00001
|
NM_031229.4(RBCK1):c.1209+2_1209+3insA
|
rs774461310
|
0.00001
|
NM_031229.4(RBCK1):c.1261C>T (p.Arg421Trp)
|
rs771360977
|
0.00001
|
NM_031229.4(RBCK1):c.1264G>A (p.Ala422Thr)
|
rs776994199
|
0.00001
|
NM_031229.4(RBCK1):c.1297G>C (p.Glu433Gln)
|
rs754890674
|
0.00001
|
NM_031229.4(RBCK1):c.1308+3G>A
|
rs757924227
|
0.00001
|
NM_031229.4(RBCK1):c.1381G>A (p.Asp461Asn)
|
rs1201022654
|
0.00001
|
NM_031229.4(RBCK1):c.1411G>A (p.Glu471Lys)
|
rs1342598444
|
0.00001
|
NM_031229.4(RBCK1):c.1438C>T (p.Arg480Cys)
|
rs1436848446
|
0.00001
|
NM_031229.4(RBCK1):c.1452G>A (p.Gly484=)
|
rs780470011
|
0.00001
|
NM_031229.4(RBCK1):c.1471G>A (p.Gly491Arg)
|
rs770973545
|
0.00001
|
NM_031229.4(RBCK1):c.154A>G (p.Thr52Ala)
|
rs755353013
|
0.00001
|
NM_031229.4(RBCK1):c.202A>G (p.Thr68Ala)
|
rs779621384
|
0.00001
|
NM_031229.4(RBCK1):c.203C>T (p.Thr68Ile)
|
rs753472058
|
0.00001
|
NM_031229.4(RBCK1):c.21A>G (p.Lys7=)
|
rs1288403973
|
0.00001
|
NM_031229.4(RBCK1):c.245C>T (p.Ala82Val)
|
rs544518686
|
0.00001
|
NM_031229.4(RBCK1):c.300G>C (p.Gln100His)
|
rs752266924
|
0.00001
|
NM_031229.4(RBCK1):c.400C>T (p.Arg134Cys)
|
rs146325218
|
0.00001
|
NM_031229.4(RBCK1):c.433C>T (p.Arg145Trp)
|
rs751068368
|
0.00001
|
NM_031229.4(RBCK1):c.449G>A (p.Arg150Gln)
|
rs748158080
|
0.00001
|
NM_031229.4(RBCK1):c.542C>A (p.Pro181His)
|
rs952034182
|
0.00001
|
NM_031229.4(RBCK1):c.581C>T (p.Pro194Leu)
|
rs1165538930
|
0.00001
|
NM_031229.4(RBCK1):c.653G>A (p.Arg218Gln)
|
rs764357407
|
0.00001
|
NM_031229.4(RBCK1):c.666G>C (p.Glu222Asp)
|
rs754967314
|
0.00001
|
NM_031229.4(RBCK1):c.682G>A (p.Ala228Thr)
|
rs752666659
|
0.00001
|
NM_031229.4(RBCK1):c.709C>G (p.Arg237Gly)
|
rs762315366
|
0.00001
|
NM_031229.4(RBCK1):c.710G>C (p.Arg237Pro)
|
rs770302308
|
0.00001
|
NM_031229.4(RBCK1):c.71A>C (p.Glu24Ala)
|
rs773247812
|
0.00001
|
NM_031229.4(RBCK1):c.743G>A (p.Arg248His)
|
rs1385885540
|
0.00001
|
NM_031229.4(RBCK1):c.800A>G (p.Gln267Arg)
|
rs1055669487
|
0.00001
|
NM_031229.4(RBCK1):c.82A>G (p.Met28Val)
|
rs909682858
|
0.00001
|
NM_031229.4(RBCK1):c.838G>A (p.Ala280Thr)
|
rs367600993
|
0.00001
|
NM_031229.4(RBCK1):c.916A>C (p.Arg306=)
|
rs1438078445
|
0.00001
|
NM_032193.4(RNASEH2C):c.*178C>G
|
rs3180585
|
0.00001
|
NM_032193.4(RNASEH2C):c.*27C>G
|
rs886048500
|
0.00001
|
NM_032193.4(RNASEH2C):c.*374T>G
|
rs533143132
|
0.00001
|
NM_032193.4(RNASEH2C):c.*719T>G
|
rs886048492
|
0.00001
|
NM_032193.4(RNASEH2C):c.104A>G (p.Glu35Gly)
|
rs374512840
|
0.00001
|
NM_032193.4(RNASEH2C):c.10G>C (p.Gly4Arg)
|
rs1857363681
|
0.00001
|
NM_032193.4(RNASEH2C):c.151G>A (p.Ala51Thr)
|
rs912731829
|
0.00001
|
NM_032193.4(RNASEH2C):c.15C>A (p.Asp5Glu)
|
rs1310807864
|
0.00001
|
NM_032193.4(RNASEH2C):c.173-14G>A
|
rs886048502
|
0.00001
|
NM_032193.4(RNASEH2C):c.20C>T (p.Ala7Val)
|
rs767413437
|
0.00001
|
NM_032193.4(RNASEH2C):c.221C>T (p.Ala74Val)
|
rs1284081456
|
0.00001
|
NM_032193.4(RNASEH2C):c.223G>A (p.Val75Met)
|
rs1857352830
|
0.00001
|
NM_032193.4(RNASEH2C):c.227C>T (p.Pro76Leu)
|
rs76091978
|
0.00001
|
NM_032193.4(RNASEH2C):c.348+1G>A
|
rs747248530
|
0.00001
|
NM_032193.4(RNASEH2C):c.371C>T (p.Ala124Val)
|
rs751248914
|
0.00001
|
NM_032193.4(RNASEH2C):c.374A>G (p.Asn125Ser)
|
rs143452727
|
0.00001
|
NM_032193.4(RNASEH2C):c.377T>G (p.Phe126Cys)
|
rs1426277096
|
0.00001
|
NM_032193.4(RNASEH2C):c.455G>A (p.Ser152Asn)
|
rs781376271
|
0.00001
|
NM_032193.4(RNASEH2C):c.463G>A (p.Ala155Thr)
|
rs757866333
|
0.00001
|
NM_032193.4(RNASEH2C):c.472C>T (p.His158Tyr)
|
rs759118175
|
0.00001
|
NM_032193.4(RNASEH2C):c.491A>G (p.Asp164Gly)
|
rs771823743
|
0.00001
|
NM_032193.4(RNASEH2C):c.53C>T (p.Ser18Phe)
|
rs1261921914
|
0.00001
|
NM_032193.4(RNASEH2C):c.59C>T (p.Thr20Ile)
|
rs1234973794
|
0.00001
|
NM_032193.4(RNASEH2C):c.98C>T (p.Pro33Leu)
|
rs11557810
|
0.00001
|
NM_032638.5(GATA2):c.1020G>A (p.Ser340=)
|
rs370166358
|
0.00001
|
NM_032638.5(GATA2):c.1024G>A (p.Ala342Thr)
|
rs751285156
|
0.00001
|
NM_032638.5(GATA2):c.1232C>T (p.Ala411Val)
|
rs374457534
|
0.00001
|
NM_032638.5(GATA2):c.1348G>A (p.Gly450Arg)
|
rs370164300
|
0.00001
|
NM_032638.5(GATA2):c.1402G>A (p.Gly468Ser)
|
rs777726701
|
0.00001
|
NM_032638.5(GATA2):c.182C>T (p.Ala61Val)
|
rs375349195
|
0.00001
|
NM_032638.5(GATA2):c.208G>T (p.Val70Phe)
|
rs570531959
|
0.00001
|
NM_032638.5(GATA2):c.442A>G (p.Ser148Gly)
|
rs1161655427
|
0.00001
|
NM_032638.5(GATA2):c.502T>G (p.Ser168Ala)
|
rs377261969
|
0.00001
|
NM_032638.5(GATA2):c.571G>A (p.Ala191Thr)
|
rs1355811506
|
0.00001
|
NM_032638.5(GATA2):c.593C>T (p.Ala198Val)
|
rs745726293
|
0.00001
|
NM_032638.5(GATA2):c.682C>A (p.Pro228Thr)
|
rs375298899
|
0.00001
|
NM_032638.5(GATA2):c.856G>A (p.Ala286Thr)
|
rs1443864030
|
0.00001
|
NM_033360.4(KRAS):c.112-5C>T
|
rs376520586
|
0.00001
|
NM_033629.6(TREX1):c.112G>T (p.Ala38Ser)
|
rs765715997
|
0.00001
|
NM_033629.6(TREX1):c.212T>C (p.Val71Ala)
|
rs145208844
|
0.00001
|
NM_033629.6(TREX1):c.218C>T (p.Pro73Leu)
|
rs755919767
|
0.00001
|
NM_033629.6(TREX1):c.226G>T (p.Ala76Ser)
|
rs986003279
|
0.00001
|
NM_033629.6(TREX1):c.23C>T (p.Pro8Leu)
|
rs561454996
|
0.00001
|
NM_033629.6(TREX1):c.251T>C (p.Ile84Thr)
|
rs748535974
|
0.00001
|
NM_033629.6(TREX1):c.268G>A (p.Ala90Thr)
|
rs1158056849
|
0.00001
|
NM_033629.6(TREX1):c.277G>C (p.Ala93Pro)
|
rs2040338083
|
0.00001
|
NM_033629.6(TREX1):c.281C>T (p.Ala94Val)
|
rs774538797
|
0.00001
|
NM_033629.6(TREX1):c.284A>G (p.His95Arg)
|
rs368972486
|
0.00001
|
NM_033629.6(TREX1):c.289C>A (p.Arg97Ser)
|
rs763817243
|
0.00001
|
NM_033629.6(TREX1):c.299T>C (p.Phe100Ser)
|
rs757909936
|
0.00001
|
NM_033629.6(TREX1):c.29C>A (p.Pro10His)
|
rs1460993756
|
0.00001
|
NM_033629.6(TREX1):c.308A>T (p.Asn103Ile)
|
rs770158462
|
0.00001
|
NM_033629.6(TREX1):c.340C>T (p.Arg114Cys)
|
rs760838030
|
0.00001
|
NM_033629.6(TREX1):c.347C>T (p.Pro116Leu)
|
rs765151974
|
0.00001
|
NM_033629.6(TREX1):c.382C>T (p.Arg128Cys)
|
rs199614534
|
0.00001
|
NM_033629.6(TREX1):c.394C>A (p.Pro132Thr)
|
rs200510205
|
0.00001
|
NM_033629.6(TREX1):c.418A>G (p.Met140Val)
|
rs761526437
|
0.00001
|
NM_033629.6(TREX1):c.427C>G (p.Leu143Val)
|
rs576033124
|
0.00001
|
NM_033629.6(TREX1):c.500G>A (p.Ser167Asn)
|
rs200309956
|
0.00001
|
NM_033629.6(TREX1):c.520A>G (p.Arg174Gly)
|
rs759481016
|
0.00001
|
NM_033629.6(TREX1):c.530A>G (p.Tyr177Cys)
|
rs1479030388
|
0.00001
|
NM_033629.6(TREX1):c.586A>G (p.Thr196Ala)
|
rs1176739791
|
0.00001
|
NM_033629.6(TREX1):c.590C>T (p.Ala197Val)
|
rs201954133
|
0.00001
|
NM_033629.6(TREX1):c.5G>T (p.Gly2Val)
|
rs199519507
|
0.00001
|
NM_033629.6(TREX1):c.605T>G (p.Leu202Arg)
|
rs769993269
|
0.00001
|
NM_033629.6(TREX1):c.61G>A (p.Ala21Thr)
|
rs1356174769
|
0.00001
|
NM_033629.6(TREX1):c.647T>C (p.Leu216Pro)
|
rs142082672
|
0.00001
|
NM_033629.6(TREX1):c.695T>G (p.Met232Arg)
|
rs373284647
|
0.00001
|
NM_033629.6(TREX1):c.740C>T (p.Ala247Val)
|
rs201503409
|
0.00001
|
NM_033629.6(TREX1):c.767del (p.Thr256fs)
|
rs1302856977
|
0.00001
|
NM_033629.6(TREX1):c.782G>A (p.Ser261Asn)
|
rs1225568750
|
0.00001
|
NM_033629.6(TREX1):c.784C>T (p.Pro262Ser)
|
rs867148059
|
0.00001
|
NM_033629.6(TREX1):c.80C>T (p.Ser27Phe)
|
rs11548268
|
0.00001
|
NM_033629.6(TREX1):c.833A>T (p.Asp278Val)
|
rs2040383072
|
0.00001
|
NM_033629.6(TREX1):c.846A>G (p.Leu282=)
|
rs374232562
|
0.00001
|
NM_033629.6(TREX1):c.85C>T (p.Pro29Ser)
|
rs1407557314
|
0.00001
|
NM_033629.6(TREX1):c.877C>G (p.Leu293Val)
|
rs759839987
|
0.00001
|
NM_033629.6(TREX1):c.907A>C (p.Thr303Pro)
|
rs76224909
|
0.00001
|
NM_033629.6(TREX1):c.935C>G (p.Pro312Arg)
|
rs772805032
|
0.00001
|
NM_033629.6(TREX1):c.95C>T (p.Thr32Met)
|
rs755138065
|
0.00001
|
NM_033629.6(TREX1):c.9G>A (p.Ser3=)
|
rs762687506
|
0.00001
|
NM_052989.3(IFT122):c.616A>G (p.Ile206Val)
|
rs777023612
|
0.00001
|
NM_053025.4(MYLK):c.3695C>T (p.Pro1232Leu)
|
rs774553050
|
0.00001
|
NM_053025.4(MYLK):c.4620-5C>T
|
rs760680632
|
0.00001
|
NM_054027.6(ANKH):c.*1058C>T
|
rs886060084
|
0.00001
|
NM_054027.6(ANKH):c.*1137A>C
|
rs1451711728
|
0.00001
|
NM_054027.6(ANKH):c.*1451T>C
|
rs1224951926
|
0.00001
|
NM_054027.6(ANKH):c.*1470G>A
|
rs1161044546
|
0.00001
|
NM_054027.6(ANKH):c.*147T>A
|
rs377727408
|
0.00001
|
NM_054027.6(ANKH):c.*1894T>C
|
rs1017314538
|
0.00001
|
NM_054027.6(ANKH):c.*2428G>C
|
rs886060077
|
0.00001
|
NM_054027.6(ANKH):c.*2644G>C
|
rs886060076
|
0.00001
|
NM_054027.6(ANKH):c.*2959T>C
|
rs919414377
|
0.00001
|
NM_054027.6(ANKH):c.*30C>T
|
rs772604835
|
0.00001
|
NM_054027.6(ANKH):c.*3559G>C
|
rs886060074
|
0.00001
|
NM_054027.6(ANKH):c.*5062A>G
|
rs937136472
|
0.00001
|
NM_054027.6(ANKH):c.*5725G>T
|
rs187007081
|
0.00001
|
NM_054027.6(ANKH):c.*5906T>C
|
rs1423821590
|
0.00001
|
NM_054027.6(ANKH):c.*6041T>C
|
rs886060066
|
0.00001
|
NM_054027.6(ANKH):c.*700G>A
|
rs765103863
|
0.00001
|
NM_054027.6(ANKH):c.*96T>C
|
rs1561015789
|
0.00001
|
NM_054027.6(ANKH):c.1071C>T (p.Ile357=)
|
rs886060088
|
0.00001
|
NM_054027.6(ANKH):c.156C>T (p.Tyr52=)
|
rs745669233
|
0.00001
|
NM_054027.6(ANKH):c.937G>A (p.Val313Met)
|
rs1490930729
|
0.00001
|
NM_058172.6(ANTXR2):c.*1136C>T
|
rs1026788796
|
0.00001
|
NM_058172.6(ANTXR2):c.*130A>G
|
rs1444860170
|
0.00001
|
NM_058172.6(ANTXR2):c.*2429G>A
|
rs995476496
|
0.00001
|
NM_058172.6(ANTXR2):c.*245A>G
|
rs1486948818
|
0.00001
|
NM_058172.6(ANTXR2):c.*263C>T
|
rs1726947408
|
0.00001
|
NM_058172.6(ANTXR2):c.*2839G>T
|
rs760081751
|
0.00001
|
NM_058172.6(ANTXR2):c.*2888G>A
|
rs1390353083
|
0.00001
|
NM_058172.6(ANTXR2):c.*3544A>G
|
rs1437810034
|
0.00001
|
NM_058172.6(ANTXR2):c.*3597T>G
|
rs888487534
|
0.00001
|
NM_058172.6(ANTXR2):c.*4201A>G
|
rs952978226
|
0.00001
|
NM_058172.6(ANTXR2):c.*4462A>G
|
rs974485555
|
0.00001
|
NM_058172.6(ANTXR2):c.*4504C>T
|
rs1726763836
|
0.00001
|
NM_058172.6(ANTXR2):c.*4917G>A
|
rs1340353111
|
0.00001
|
NM_058172.6(ANTXR2):c.*752C>G
|
rs1302997320
|
0.00001
|
NM_058172.6(ANTXR2):c.-5G>A
|
rs765908500
|
0.00001
|
NM_058172.6(ANTXR2):c.1309C>T (p.His437Tyr)
|
rs1445493382
|
0.00001
|
NM_058172.6(ANTXR2):c.1349G>A (p.Gly450Asp)
|
rs369528902
|
0.00001
|
NM_058172.6(ANTXR2):c.233T>C (p.Met78Thr)
|
rs886059658
|
0.00001
|
NM_058172.6(ANTXR2):c.98C>T (p.Ala33Val)
|
rs756775841
|
0.00001
|
NM_080425.4(GNAS):c.1200C>A (p.Ala400=)
|
rs908810796
|
0.00001
|
NM_080425.4(GNAS):c.1323C>T (p.Pro441=)
|
rs146744182
|
0.00001
|
NM_080425.4(GNAS):c.98C>A (p.Ala33Asp)
|
rs746548577
|
0.00001
|
NM_080628.3(TLDC2):c.*18-34C>G
|
rs570535296
|
0.00001
|
NM_080628.3(TLDC2):c.*18-578G>A
|
rs1414917474
|
0.00001
|
NM_080680.3(COL11A2):c.1181G>A (p.Gly394Asp)
|
rs1554221958
|
0.00001
|
NM_144687.3(NLRP12):c.*343A>G
|
rs540448720
|
0.00001
|
NM_144687.4(NLRP12):c.*290A>C
|
rs886054605
|
0.00001
|
NM_144687.4(NLRP12):c.103G>A (p.Ala35Thr)
|
rs149098000
|
0.00001
|
NM_144687.4(NLRP12):c.1060C>G (p.Leu354Val)
|
rs1435117815
|
0.00001
|
NM_144687.4(NLRP12):c.110A>G (p.Glu37Gly)
|
rs200568545
|
0.00001
|
NM_144687.4(NLRP12):c.1152G>A (p.Ala384=)
|
rs776027340
|
0.00001
|
NM_144687.4(NLRP12):c.1157A>G (p.Gln386Arg)
|
rs1335953782
|
0.00001
|
NM_144687.4(NLRP12):c.1166A>G (p.Asn389Ser)
|
rs1169092995
|
0.00001
|
NM_144687.4(NLRP12):c.1183G>T (p.Glu395Ter)
|
rs202133847
|
0.00001
|
NM_144687.4(NLRP12):c.119A>G (p.Glu40Gly)
|
rs1271135647
|
0.00001
|
NM_144687.4(NLRP12):c.121G>A (p.Gly41Ser)
|
rs756104068
|
0.00001
|
NM_144687.4(NLRP12):c.1265G>A (p.Gly422Glu)
|
rs993565305
|
0.00001
|
NM_144687.4(NLRP12):c.1268T>C (p.Leu423Pro)
|
rs765669036
|
0.00001
|
NM_144687.4(NLRP12):c.1281G>A (p.Thr427=)
|
rs528087095
|
0.00001
|
NM_144687.4(NLRP12):c.1294A>G (p.Thr432Ala)
|
rs768497979
|
0.00001
|
NM_144687.4(NLRP12):c.1351C>T (p.Arg451Cys)
|
rs769847348
|
0.00001
|
NM_144687.4(NLRP12):c.1372C>T (p.Gln458Ter)
|
rs757979953
|
0.00001
|
NM_144687.4(NLRP12):c.1383G>C (p.Leu461Phe)
|
rs752139831
|
0.00001
|
NM_144687.4(NLRP12):c.1388C>T (p.Ser463Phe)
|
rs2092043514
|
0.00001
|
NM_144687.4(NLRP12):c.1471G>A (p.Val491Ile)
|
rs200795570
|
0.00001
|
NM_144687.4(NLRP12):c.1546A>G (p.Ser516Gly)
|
rs770763005
|
0.00001
|
NM_144687.4(NLRP12):c.1568C>G (p.Ala523Gly)
|
rs1036210460
|
0.00001
|
NM_144687.4(NLRP12):c.1572G>A (p.Met524Ile)
|
rs570169359
|
0.00001
|
NM_144687.4(NLRP12):c.1578T>A (p.Tyr526Ter)
|
rs374537127
|
0.00001
|
NM_144687.4(NLRP12):c.157C>T (p.Pro53Ser)
|
rs752350185
|
0.00001
|
NM_144687.4(NLRP12):c.160C>G (p.Leu54Val)
|
rs764835509
|
0.00001
|
NM_144687.4(NLRP12):c.1628G>T (p.Arg543Met)
|
rs1031564464
|
0.00001
|
NM_144687.4(NLRP12):c.1643A>G (p.Tyr548Cys)
|
rs773087721
|
0.00001
|
NM_144687.4(NLRP12):c.1681C>A (p.Arg561Ser)
|
rs747435135
|
0.00001
|
NM_144687.4(NLRP12):c.1739G>A (p.Cys580Tyr)
|
rs774065257
|
0.00001
|
NM_144687.4(NLRP12):c.1742G>A (p.Trp581Ter)
|
rs569593868
|
0.00001
|
NM_144687.4(NLRP12):c.1743G>T (p.Trp581Cys)
|
rs762543085
|
0.00001
|
NM_144687.4(NLRP12):c.179T>C (p.Leu60Pro)
|
rs776191575
|
0.00001
|
NM_144687.4(NLRP12):c.1833G>C (p.Leu611Phe)
|
rs763836095
|
0.00001
|
NM_144687.4(NLRP12):c.19A>G (p.Arg7Gly)
|
rs773831845
|
0.00001
|
NM_144687.4(NLRP12):c.2038T>C (p.Cys680Arg)
|
rs777774690
|
0.00001
|
NM_144687.4(NLRP12):c.2042C>A (p.Ser681Tyr)
|
rs771927948
|
0.00001
|
NM_144687.4(NLRP12):c.2051C>G (p.Ala684Gly)
|
rs753678830
|
0.00001
|
NM_144687.4(NLRP12):c.2072+5G>T
|
rs1228818815
|
0.00001
|
NM_144687.4(NLRP12):c.2104A>G (p.Ser702Gly)
|
rs2091983142
|
0.00001
|
NM_144687.4(NLRP12):c.2106T>A (p.Ser702Arg)
|
rs945063133
|
0.00001
|
NM_144687.4(NLRP12):c.2164C>T (p.Arg722Ter)
|
rs750852187
|
0.00001
|
NM_144687.4(NLRP12):c.2195T>G (p.Leu732Arg)
|
rs1341283051
|
0.00001
|
NM_144687.4(NLRP12):c.2213G>T (p.Arg738Ile)
|
rs560050058
|
0.00001
|
NM_144687.4(NLRP12):c.2219C>T (p.Pro740Leu)
|
rs770328920
|
0.00001
|
NM_144687.4(NLRP12):c.2222A>G (p.Asn741Ser)
|
rs548804330
|
0.00001
|
NM_144687.4(NLRP12):c.2244-14C>T
|
rs866055657
|
0.00001
|
NM_144687.4(NLRP12):c.2253G>A (p.Arg751=)
|
rs747968386
|
0.00001
|
NM_144687.4(NLRP12):c.2282A>G (p.Asp761Gly)
|
rs762644457
|
0.00001
|
NM_144687.4(NLRP12):c.2284C>T (p.Leu762Phe)
|
rs752188739
|
0.00001
|
NM_144687.4(NLRP12):c.232G>A (p.Glu78Lys)
|
rs1445163997
|
0.00001
|
NM_144687.4(NLRP12):c.2341G>A (p.Gly781Ser)
|
rs376676387
|
0.00001
|
NM_144687.4(NLRP12):c.2345T>C (p.Val782Ala)
|
rs777591981
|
0.00001
|
NM_144687.4(NLRP12):c.2360dup (p.Met787fs)
|
rs768447330
|
0.00001
|
NM_144687.4(NLRP12):c.2397C>T (p.Cys799=)
|
rs199913848
|
0.00001
|
NM_144687.4(NLRP12):c.2479C>G (p.Pro827Ala)
|
rs926941594
|
0.00001
|
NM_144687.4(NLRP12):c.250G>A (p.Asp84Asn)
|
rs369320436
|
0.00001
|
NM_144687.4(NLRP12):c.260A>G (p.Glu87Gly)
|
rs764855416
|
0.00001
|
NM_144687.4(NLRP12):c.2618G>C (p.Cys873Ser)
|
rs1008086271
|
0.00001
|
NM_144687.4(NLRP12):c.2625G>C (p.Glu875Asp)
|
rs2091867770
|
0.00001
|
NM_144687.4(NLRP12):c.2736G>A (p.Thr912=)
|
rs372372169
|
0.00001
|
NM_144687.4(NLRP12):c.2750C>T (p.Thr917Ile)
|
rs760120881
|
0.00001
|
NM_144687.4(NLRP12):c.2757-1G>T
|
rs143515989
|
0.00001
|
NM_144687.4(NLRP12):c.276G>T (p.Glu92Asp)
|
rs1477252514
|
0.00001
|
NM_144687.4(NLRP12):c.2787_2798del (p.Cys930_Leu933del)
|
rs761789218
|
0.00001
|
NM_144687.4(NLRP12):c.2789G>C (p.Cys930Ser)
|
rs769829992
|
0.00001
|
NM_144687.4(NLRP12):c.2928-4C>G
|
rs980154436
|
0.00001
|
NM_144687.4(NLRP12):c.2981T>C (p.Leu994Pro)
|
rs769476370
|
0.00001
|
NM_144687.4(NLRP12):c.2992C>A (p.Gln998Lys)
|
rs770386298
|
0.00001
|
NM_144687.4(NLRP12):c.2998T>G (p.Leu1000Val)
|
rs1219838859
|
0.00001
|
NM_144687.4(NLRP12):c.3035A>T (p.Asp1012Val)
|
rs1400666519
|
0.00001
|
NM_144687.4(NLRP12):c.3052C>T (p.Leu1018Phe)
|
rs2091748199
|
0.00001
|
NM_144687.4(NLRP12):c.3089G>A (p.Arg1030Gln)
|
rs751680149
|
0.00001
|
NM_144687.4(NLRP12):c.3095T>C (p.Leu1032Pro)
|
rs2091747039
|
0.00001
|
NM_144687.4(NLRP12):c.3125T>G (p.Met1042Arg)
|
rs1041427916
|
0.00001
|
NM_144687.4(NLRP12):c.3127A>G (p.Thr1043Ala)
|
rs1009978100
|
0.00001
|
NM_144687.4(NLRP12):c.3133A>C (p.Ser1045Arg)
|
rs1280682130
|
0.00001
|
NM_144687.4(NLRP12):c.3148C>T (p.Leu1050Phe)
|
rs1293965801
|
0.00001
|
NM_144687.4(NLRP12):c.3152G>A (p.Arg1051Gln)
|
rs777108086
|
0.00001
|
NM_144687.4(NLRP12):c.3174C>A (p.Asp1058Glu)
|
rs1690166860
|
0.00001
|
NM_144687.4(NLRP12):c.3181T>G (p.Cys1061Gly)
|
rs1345613811
|
0.00001
|
NM_144687.4(NLRP12):c.325C>T (p.Gln109Ter)
|
rs200270922
|
0.00001
|
NM_144687.4(NLRP12):c.34C>T (p.Arg12Cys)
|
rs370612027
|
0.00001
|
NM_144687.4(NLRP12):c.362C>A (p.Pro121Gln)
|
rs773438934
|
0.00001
|
NM_144687.4(NLRP12):c.370+2T>G
|
rs202105388
|
0.00001
|
NM_144687.4(NLRP12):c.400C>T (p.Arg134Cys)
|
rs200217675
|
0.00001
|
NM_144687.4(NLRP12):c.428G>A (p.Arg143His)
|
rs760185291
|
0.00001
|
NM_144687.4(NLRP12):c.448T>A (p.Cys150Ser)
|
rs746324074
|
0.00001
|
NM_144687.4(NLRP12):c.451G>A (p.Val151Ile)
|
rs777944221
|
0.00001
|
NM_144687.4(NLRP12):c.456C>A (p.Asn152Lys)
|
rs374197946
|
0.00001
|
NM_144687.4(NLRP12):c.541C>T (p.Arg181Trp)
|
rs758607519
|
0.00001
|
NM_144687.4(NLRP12):c.593C>A (p.Thr198Asn)
|
rs199829926
|
0.00001
|
NM_144687.4(NLRP12):c.619C>T (p.Pro207Ser)
|
rs750186083
|
0.00001
|
NM_144687.4(NLRP12):c.623A>C (p.Glu208Ala)
|
rs771274238
|
0.00001
|
NM_144687.4(NLRP12):c.631C>T (p.Arg211Cys)
|
rs561178624
|
0.00001
|
NM_144687.4(NLRP12):c.641T>C (p.Val214Ala)
|
rs886054610
|
0.00001
|
NM_144687.4(NLRP12):c.644T>C (p.Met215Thr)
|
rs768852576
|
0.00001
|
NM_144687.4(NLRP12):c.653C>T (p.Ala218Val)
|
rs749659859
|
0.00001
|
NM_144687.4(NLRP12):c.654G>A (p.Ala218=)
|
rs745766441
|
0.00001
|
NM_144687.4(NLRP12):c.656C>A (p.Ala219Glu)
|
rs1321841169
|
0.00001
|
NM_144687.4(NLRP12):c.704C>T (p.Ala235Val)
|
rs141779249
|
0.00001
|
NM_144687.4(NLRP12):c.753C>G (p.Asn251Lys)
|
rs553174582
|
0.00001
|
NM_144687.4(NLRP12):c.7C>T (p.Arg3Ter)
|
rs761868541
|
0.00001
|
NM_144687.4(NLRP12):c.823C>G (p.Pro275Ala)
|
rs1303607100
|
0.00001
|
NM_144687.4(NLRP12):c.854T>C (p.Val285Ala)
|
rs910232490
|
0.00001
|
NM_144687.4(NLRP12):c.861G>A (p.Glu287=)
|
rs765562062
|
0.00001
|
NM_144687.4(NLRP12):c.920A>G (p.Gln307Arg)
|
rs753109542
|
0.00001
|
NM_144687.4(NLRP12):c.943G>A (p.Glu315Lys)
|
rs766680396
|
0.00001
|
NM_144687.4(NLRP12):c.953G>A (p.Arg318Gln)
|
rs1361737454
|
0.00001
|
NM_144687.4(NLRP12):c.961G>A (p.Glu321Lys)
|
rs769424856
|
0.00001
|
NM_144687.4(NLRP12):c.964C>G (p.Leu322Val)
|
rs745451806
|
0.00001
|
NM_148919.4(PSMB8):c.*178G>A
|
rs886061309
|
0.00001
|
NM_148919.4(PSMB8):c.*57C>T
|
rs1371496516
|
0.00001
|
NM_148919.4(PSMB8):c.180C>T (p.Asp60=)
|
rs757858465
|
0.00001
|
NM_148919.4(PSMB8):c.181G>A (p.Gly61Arg)
|
rs1007524117
|
0.00001
|
NM_148919.4(PSMB8):c.191A>T (p.Asn64Ile)
|
rs140150936
|
0.00001
|
NM_148919.4(PSMB8):c.271C>T (p.Arg91Trp)
|
rs201142158
|
0.00001
|
NM_148919.4(PSMB8):c.316G>A (p.Val106Met)
|
rs1254158106
|
0.00001
|
NM_148919.4(PSMB8):c.351G>A (p.Met117Ile)
|
rs754243092
|
0.00001
|
NM_148919.4(PSMB8):c.371G>C (p.Cys124Ser)
|
rs767636318
|
0.00001
|
NM_148919.4(PSMB8):c.385C>T (p.Arg129Cys)
|
rs757343575
|
0.00001
|
NM_148919.4(PSMB8):c.407+7G>A
|
rs1020393626
|
0.00001
|
NM_148919.4(PSMB8):c.422G>A (p.Arg141Gln)
|
rs1181818643
|
0.00001
|
NM_148919.4(PSMB8):c.451G>A (p.Ala151Thr)
|
rs749800130
|
0.00001
|
NM_148919.4(PSMB8):c.470A>G (p.Asn157Ser)
|
rs372030309
|
0.00001
|
NM_148919.4(PSMB8):c.492C>T (p.Gly164=)
|
rs369474146
|
0.00001
|
NM_148919.4(PSMB8):c.493A>G (p.Met165Val)
|
rs747199589
|
0.00001
|
NM_148919.4(PSMB8):c.686G>A (p.Arg229His)
|
rs547653681
|
0.00001
|
NM_148919.4(PSMB8):c.695T>C (p.Ile232Thr)
|
rs767937121
|
0.00001
|
NM_148919.4(PSMB8):c.710A>G (p.His237Arg)
|
rs1361855322
|
0.00001
|
NM_148919.4(PSMB8):c.755A>C (p.Lys252Thr)
|
rs1582602825
|
0.00001
|
NM_148919.4(PSMB8):c.756G>A (p.Lys252=)
|
rs200016893
|
0.00001
|
NM_173841.3(IL1RN):c.66C>T (p.Asp22=)
|
rs760885026
|
0.00001
|
NM_173842.3(IL1RN):c.*1040G>A
|
rs886054777
|
0.00001
|
NM_173842.3(IL1RN):c.*130C>T
|
rs541642811
|
0.00001
|
NM_173842.3(IL1RN):c.*165C>T
|
rs886054773
|
0.00001
|
NM_173842.3(IL1RN):c.*245G>A
|
rs886054774
|
0.00001
|
NM_173842.3(IL1RN):c.*601C>G
|
rs572782935
|
0.00001
|
NM_173842.3(IL1RN):c.169G>T (p.Ala57Ser)
|
rs777996358
|
0.00001
|
NM_173842.3(IL1RN):c.192T>C (p.Asn64=)
|
rs146473306
|
0.00001
|
NM_173842.3(IL1RN):c.197A>G (p.Asn66Ser)
|
rs761355602
|
0.00001
|
NM_173842.3(IL1RN):c.212T>C (p.Ile71Thr)
|
rs1202378531
|
0.00001
|
NM_173842.3(IL1RN):c.298G>A (p.Glu100Lys)
|
rs764209607
|
0.00001
|
NM_173842.3(IL1RN):c.305G>C (p.Arg102Thr)
|
rs371848779
|
0.00001
|
NM_173842.3(IL1RN):c.336C>T (p.Asp112=)
|
rs751937390
|
0.00001
|
NM_173842.3(IL1RN):c.343G>A (p.Glu115Lys)
|
rs767854418
|
0.00001
|
NM_173842.3(IL1RN):c.388A>G (p.Ser130Gly)
|
rs1687216601
|
0.00001
|
NM_173842.3(IL1RN):c.423C>T (p.Cys141=)
|
rs753224633
|
0.00001
|
NM_173842.3(IL1RN):c.446C>T (p.Ala149Val)
|
rs374276440
|
0.00001
|
NM_173842.3(IL1RN):c.466G>A (p.Val156Ile)
|
rs56115412
|
0.00001
|
NM_173842.3(IL1RN):c.490G>A (p.Glu164Lys)
|
rs188868709
|
0.00001
|
NM_173842.3(IL1RN):c.99C>G (p.Ser33Arg)
|
rs573468124
|
0.00001
|
NM_183235.3(RAB27A):c.130A>G (p.Ile44Val)
|
rs763762181
|
0.00001
|
NM_183235.3(RAB27A):c.153+10A>G
|
rs774986160
|
0.00001
|
NM_183235.3(RAB27A):c.209T>C (p.Leu70Pro)
|
rs1371360853
|
0.00001
|
NM_198253.3(TERT):c.1331A>G (p.Asp444Gly)
|
rs878855299
|
0.00001
|
NM_198253.3(TERT):c.1954G>A (p.Glu652Lys)
|
rs1228165704
|
0.00001
|
NM_198253.3(TERT):c.508G>A (p.Val170Met)
|
rs387907248
|
0.00001
|
NM_198253.3(TERT):c.895G>A (p.Val299Met)
|
rs756624928
|
0.00001
|
NM_198282.4(STING1):c.1003C>A (p.Gln335Lys)
|
rs1254726825
|
0.00001
|
NM_198282.4(STING1):c.1054C>T (p.Pro352Ser)
|
rs977753165
|
0.00001
|
NM_198282.4(STING1):c.1123C>T (p.Arg375Cys)
|
rs144606267
|
0.00001
|
NM_198282.4(STING1):c.161T>C (p.Leu54Pro)
|
rs1292788155
|
0.00001
|
NM_198282.4(STING1):c.174G>T (p.Leu58=)
|
rs763523329
|
0.00001
|
NM_198282.4(STING1):c.175C>T (p.Leu59=)
|
rs760161824
|
0.00001
|
NM_198282.4(STING1):c.184G>A (p.Gly62Arg)
|
rs766819764
|
0.00001
|
NM_198282.4(STING1):c.211C>A (p.Arg71Ser)
|
rs768649460
|
0.00001
|
NM_198282.4(STING1):c.233G>A (p.Arg78Gln)
|
rs11554775
|
0.00001
|
NM_198282.4(STING1):c.256C>T (p.Arg86Trp)
|
rs867650202
|
0.00001
|
NM_198282.4(STING1):c.26C>T (p.Ser9Phe)
|
rs888652949
|
0.00001
|
NM_198282.4(STING1):c.281G>A (p.Arg94His)
|
rs780666926
|
0.00001
|
NM_198282.4(STING1):c.2T>C (p.Met1Thr)
|
rs754838823
|
0.00001
|
NM_198282.4(STING1):c.337G>A (p.Val113Ile)
|
rs770875890
|
0.00001
|
NM_198282.4(STING1):c.344C>T (p.Pro115Leu)
|
rs769494344
|
0.00001
|
NM_198282.4(STING1):c.40A>C (p.Arg14=)
|
rs761439213
|
0.00001
|
NM_198282.4(STING1):c.411+4T>C
|
rs375733291
|
0.00001
|
NM_198282.4(STING1):c.418G>A (p.Ala140Thr)
|
rs1370637313
|
0.00001
|
NM_198282.4(STING1):c.430A>G (p.Ile144Val)
|
rs755245286
|
0.00001
|
NM_198282.4(STING1):c.493A>G (p.Ile165Val)
|
rs768359336
|
0.00001
|
NM_198282.4(STING1):c.49G>A (p.Gly17Arg)
|
rs759944012
|
0.00001
|
NM_198282.4(STING1):c.4C>T (p.Pro2Ser)
|
rs1223377482
|
0.00001
|
NM_198282.4(STING1):c.532C>T (p.Arg178Trp)
|
rs1240603758
|
0.00001
|
NM_198282.4(STING1):c.539G>A (p.Arg180Gln)
|
rs759123296
|
0.00001
|
NM_198282.4(STING1):c.547A>C (p.Asn183His)
|
rs773990834
|
0.00001
|
NM_198282.4(STING1):c.572G>A (p.Arg191Gln)
|
rs750561744
|
0.00001
|
NM_198282.4(STING1):c.590G>A (p.Arg197Gln)
|
rs760564156
|
0.00001
|
NM_198282.4(STING1):c.697G>A (p.Ala233Thr)
|
rs201670175
|
0.00001
|
NM_198282.4(STING1):c.709G>T (p.Asp237Tyr)
|
rs1291110297
|
0.00001
|
NM_198282.4(STING1):c.751G>A (p.Gly251Arg)
|
rs1409697347
|
0.00001
|
NM_198282.4(STING1):c.767C>T (p.Thr256Ile)
|
rs769794754
|
0.00001
|
NM_198282.4(STING1):c.841C>T (p.Arg281Trp)
|
rs750077345
|
0.00001
|
NM_198282.4(STING1):c.946+1G>T
|
rs375560052
|
0.00001
|
NM_198282.4(STING1):c.946+6G>T
|
rs768799195
|
0.00001
|
NM_199242.3(UNC13D):c.1708C>T (p.Arg570Cys)
|
rs549768303
|
0.00001
|
NM_199242.3(UNC13D):c.2370C>T (p.Ala790=)
|
rs747428323
|
0.00001
|
NM_199242.3(UNC13D):c.2637G>A (p.Arg879=)
|
rs1372708758
|
0.00001
|
NM_199242.3(UNC13D):c.2678G>A (p.Arg893Gln)
|
rs759502435
|
0.00001
|
NM_199242.3(UNC13D):c.731G>A (p.Gly244Glu)
|
rs975849011
|
0.00001
|
NM_199242.3(UNC13D):c.869C>T (p.Ser290Leu)
|
rs202020396
|
0.00001
|
NM_207122.2(EXT2):c.*862T>G
|
rs192098481
|
0.00001
|
NM_207122.2(EXT2):c.*93G>A
|
rs886048278
|
0.00001
|
NM_207122.2(EXT2):c.-30-10T>A
|
rs371744028
|
0.00001
|
NM_207122.2(EXT2):c.-31+453A>G
|
rs1032612888
|
0.00001
|
NM_207122.2(EXT2):c.1019T>A (p.Val340Asp)
|
rs371996957
|
0.00001
|
NM_207122.2(EXT2):c.1226C>T (p.Ala409Val)
|
rs1279920600
|
0.00001
|
NM_207122.2(EXT2):c.1259C>T (p.Pro420Leu)
|
rs747153343
|
0.00001
|
NM_207122.2(EXT2):c.1270A>G (p.Ile424Val)
|
rs1473876438
|
0.00001
|
NM_207122.2(EXT2):c.1287G>T (p.Trp429Cys)
|
rs1403873034
|
0.00001
|
NM_207122.2(EXT2):c.1305+2T>C
|
rs202153611
|
0.00001
|
NM_207122.2(EXT2):c.1319T>A (p.Val440Glu)
|
rs1053473840
|
0.00001
|
NM_207122.2(EXT2):c.1354C>G (p.Gln452Glu)
|
rs1955475218
|
0.00001
|
NM_207122.2(EXT2):c.1375A>G (p.Ile459Val)
|
rs779292816
|
0.00001
|
NM_207122.2(EXT2):c.1409T>C (p.Phe470Ser)
|
rs1360036719
|
0.00001
|
NM_207122.2(EXT2):c.1484A>G (p.Asn495Ser)
|
rs1590640131
|
0.00001
|
NM_207122.2(EXT2):c.1515C>G (p.Ile505Met)
|
rs145279140
|
0.00001
|
NM_207122.2(EXT2):c.1516C>T (p.Arg506Trp)
|
rs750549318
|
0.00001
|
NM_207122.2(EXT2):c.151G>A (p.Glu51Lys)
|
rs763384036
|
0.00001
|
NM_207122.2(EXT2):c.1575T>G (p.Pro525=)
|
rs372914384
|
0.00001
|
NM_207122.2(EXT2):c.1610T>C (p.Ile537Thr)
|
rs766600182
|
0.00001
|
NM_207122.2(EXT2):c.1712A>G (p.His571Arg)
|
rs150392363
|
0.00001
|
NM_207122.2(EXT2):c.1921A>C (p.Lys641Gln)
|
rs773705067
|
0.00001
|
NM_207122.2(EXT2):c.2041G>C (p.Ala681Pro)
|
rs771936445
|
0.00001
|
NM_207122.2(EXT2):c.238C>T (p.Arg80Trp)
|
rs755625888
|
0.00001
|
NM_207122.2(EXT2):c.266C>T (p.Thr89Met)
|
rs143048174
|
0.00001
|
NM_207122.2(EXT2):c.296A>T (p.Asn99Ile)
|
rs147587178
|
0.00001
|
NM_207122.2(EXT2):c.415G>A (p.Asp139Asn)
|
rs1038984851
|
0.00001
|
NM_207122.2(EXT2):c.502A>G (p.Lys168Glu)
|
rs762533540
|
0.00001
|
NM_207122.2(EXT2):c.511G>A (p.Ala171Thr)
|
rs1326355711
|
0.00001
|
NM_207122.2(EXT2):c.640G>A (p.Gly214Ser)
|
rs550761834
|
0.00001
|
NM_207122.2(EXT2):c.646G>A (p.Gly216Ser)
|
rs1208541215
|
0.00001
|
NM_207122.2(EXT2):c.656C>T (p.Thr219Met)
|
rs202208526
|
0.00001
|
NM_207122.2(EXT2):c.667C>T (p.Arg223Trp)
|
rs201062014
|
0.00001
|
NM_207122.2(EXT2):c.860C>A (p.Thr287Asn)
|
rs886048275
|
0.00001
|
NM_207122.2(EXT2):c.895C>T (p.Arg299Cys)
|
rs375468766
|
0.00001
|
NM_207122.2(EXT2):c.974G>A (p.Arg325Gln)
|
rs762292898
|
0.00001
|
NM_207122.2(EXT2):c.997G>A (p.Asp333Asn)
|
rs1182974716
|
0.00001
|
NM_212482.4(FN1):c.1544G>A (p.Arg515Gln)
|
rs376696206
|
0.00001
|
NM_212482.4(FN1):c.2429C>T (p.Ala810Val)
|
rs568343071
|
0.00001
|
NM_212482.4(FN1):c.3271A>G (p.Ile1091Val)
|
rs80101897
|
0.00001
|
NM_212482.4(FN1):c.3959T>C (p.Val1320Ala)
|
rs770129874
|
0.00001
|
NM_212482.4(FN1):c.4473A>T (p.Arg1491Ser)
|
rs2059079828
|
0.00001
|
NM_212482.4(FN1):c.4558G>A (p.Val1520Ile)
|
rs201469351
|
0.00001
|
NM_212482.4(FN1):c.4586C>G (p.Pro1529Arg)
|
rs760993609
|
0.00001
|
NM_212482.4(FN1):c.4720G>A (p.Gly1574Arg)
|
rs764285223
|
0.00001
|
NM_212482.4(FN1):c.5602G>A (p.Val1868Met)
|
rs369072643
|
0.00001
|
NM_212482.4(FN1):c.5659A>G (p.Lys1887Glu)
|
rs145946514
|
0.00001
|
NM_212482.4(FN1):c.5735G>A (p.Arg1912His)
|
rs775421803
|
0.00001
|
NM_212482.4(FN1):c.5983G>A (p.Asp1995Asn)
|
rs201097962
|
0.00001
|
NM_212482.4(FN1):c.6547G>T (p.Glu2183Ter)
|
rs754396418
|
0.00001
|
NM_212482.4(FN1):c.665G>A (p.Arg222His)
|
rs778971356
|
0.00001
|
NM_212482.4(FN1):c.7310C>T (p.Thr2437Ile)
|
rs751303604
|
0.00001
|
NM_212482.4(FN1):c.749A>C (p.Asp250Ala)
|
rs372163398
|
0.00001
|
46;XY;t(6;11)(q23;q21)or(q25;q21)dn
|
|
|
GRCh37/hg19 3p24.1(chr3:30729876-30730003)
|
|
|
GRCh37/hg19 Xp22.13-22.12(chrX:19030055-19591281)
|
|
|
NC_000001.10:g.(?_11847760)_(12066770_?)dup
|
|
|
NC_000001.10:g.(?_119427355)_(120529725_?)dup
|
|
|
NC_000001.10:g.(?_11994817)_(11994932_?)dup
|
|
|
NC_000001.10:g.(?_11994837)_(12034865_?)dup
|
|
|
NC_000001.10:g.(?_12008013)_(12010597_?)del
|
|
|
NC_000001.10:g.(?_12020703)_(12027148_?)dup
|
|
|
NC_000001.10:g.(?_120496146)_(120497875_?)del
|
|
|
NC_000001.10:g.(?_154557262)_(154557840_?)dup
|
|
|
NC_000001.10:g.(?_154569261)_(154571081_?)dup
|
|
|
NC_000001.10:g.(?_158581054)_(162750036_?)dup
|
|
|
NC_000001.10:g.(?_160309679)_(160320060_?)dup
|
|
|
NC_000001.10:g.(?_2160186)_(2238224_?)dup
|
|
|
NC_000001.10:g.(?_218607404)_(218607810_?)dup
|
|
|
NC_000001.10:g.(?_2234397)_(2238204_?)dup
|
|
|
NC_000001.10:g.(?_247599252)_(248059833_?)dup
|
|
|
NC_000001.10:g.(?_247607254)_(247617036_?)dup
|
|
|
NC_000001.10:g.(?_43812096)_(43818443_?)dup
|
|
|
NC_000001.10:g.(?_955543)_(2957600_?)del
|
|
|
NC_000001.11:g.(?_11934770)_(11934865_?)dup
|
|
|
NC_000001.11:g.(?_247418775)_(247448734_?)del
|
|
|
NC_000001.11:g.(?_247418775)_(247453734_?)dup
|
|
|
NC_000002.11:g.(?_113875596)_(113890448_?)dup
|
|
|
NC_000002.11:g.(?_113877623)_(113877725_?)del
|
|
|
NC_000002.11:g.(?_163123710)_(163174817_?)del
|
|
|
NC_000002.11:g.(?_163123710)_(163174817_?)dup
|
|
|
NC_000002.11:g.(?_163128716)_(163134858_?)del
|
|
|
NC_000002.11:g.(?_163128856)_(163131721_?)del
|
|
|
NC_000002.11:g.(?_163163199)_(163163385_?)del
|
|
|
NC_000002.11:g.(?_31558804)_(32481864_?)dup
|
|
|
NC_000002.11:g.(?_32288901)_(32481844_?)dup
|
|
|
NC_000002.11:g.(?_32449542)_(32461428_?)dup
|
|
|
NC_000002.11:g.(?_32461296)_(32466214_?)del
|
|
|
NC_000002.11:g.(?_32466082)_(32481844_?)dup
|
|
|
NC_000002.11:g.(?_32474656)_(32481844_?)dup
|
|
|
NC_000002.12:g.(?_162288115)_(162288375_?)del
|
|
|
NC_000002.12:g.(?_32241013)_(32241145_?)del
|
|
|
NC_000002.12:g.(?_9490157)_(9555625_?)dup
|
|
|
NC_000002.12:g.(?_9509959)_(9510151_?)dup
|
|
|
NC_000004.11:g.(?_2822345)_(2822500_?)del
|
|
|
NC_000004.11:g.(?_2822345)_(2822500_?)dup
|
|
|
NC_000004.11:g.(?_493125)_(3495228_?)del
|
|
|
NC_000004.11:g.(?_493125)_(3495228_?)dup
|
|
|
NC_000004.12:g.(?_2059492)_(2833854_?)del
|
|
|
NC_000004.12:g.(?_2812378)_(2820773_?)dup
|
|
|
NC_000005.10:g.(?_128301372)_(128312805_?)dup
|
|
|
NC_000005.10:g.(?_128318139)_(128319011_?)dup
|
|
|
NC_000005.10:g.(?_128350858)_(128351015_?)del
|
|
|
NC_000005.10:g.(?_128408654)_(128530713_?)del
|
|
|
NC_000005.10:g.(?_128408664)_(128530703_?)del
|
|
|
NC_000005.10:g.(?_128530575)_(128530713_?)del
|
|
|
NC_000005.10:g.(?_128537340)_(128537613_?)del
|
|
|
NC_000005.10:g.(?_139476241)_(139481724_?)dup
|
|
|
NC_000005.9:g.(?_127595147)_(127873296_?)del
|
|
|
NC_000005.9:g.(?_127622400)_(127645101_?)dup
|
|
|
NC_000005.9:g.(?_127666331)_(127799615_?)del
|
|
|
NC_000005.9:g.(?_127685029)_(127686707_?)del
|
|
|
NC_000005.9:g.(?_127689859)_(127693060_?)del
|
|
|
NC_000005.9:g.(?_127712503)_(127716032_?)del
|
|
|
NC_000005.9:g.(?_136957787)_(138861289_?)del
|
|
|
NC_000005.9:g.(?_138855826)_(138861309_?)del
|
|
|
NC_000005.9:g.(?_138855846)_(138858113_?)del
|
|
|
NC_000005.9:g.(?_149503793)_(149516630_?)dup
|
|
|
NC_000006.11:g.(?_30695893)_(36953949_?)dup
|
|
|
NC_000006.11:g.(?_32802911)_(32808844_?)dup
|
|
|
NC_000008.10:g.(?_117647788)_(120797526_?)dup
|
|
|
NC_000008.10:g.(?_118819446)_(119123285_?)dup
|
|
|
NC_000008.11:g.(?_118110065)_(118111066_?)dup
|
|
|
NC_000011.10:g.65720153_65720165del
|
|
|
NC_000011.9:g.(?_116691583)_(121500272_?)dup
|
|
|
NC_000011.9:g.(?_117856768)_(118972385_?)dup
|
|
|
NC_000011.9:g.(?_44219359)_(44228529_?)del
|
|
|
NC_000011.9:g.(?_64973914)_(70052579_?)dup
|
|
|
NC_000011.9:g.(?_65325080)_(65639825_?)del
|
|
|
NC_000012.11:g.(?_109921357)_(110034382_?)dup
|
|
|
NC_000012.11:g.(?_6442215)_(6443430_?)dup
|
|
|
NC_000012.11:g.(?_98909636)_(98909934_?)del
|
|
|
NC_000012.11:g.(?_98909646)_(98909944_?)dup
|
|
|
NC_000013.10:g.(?_51528021)_(51530610_?)del
|
|
|
NC_000013.11:g.(?_50953885)_(50956494_?)del
|
|
|
NC_000013.11:g.50929475_50929477del
|
|
|
NC_000014.8:g.(?_76425530)_(76432058_?)dup
|
|
|
NC_000014.8:g.(?_76437449)_(76438081_?)del
|
|
|
NC_000015.10:g.(?_77030482)_(77037196_?)dup
|
|
|
NC_000015.9:g.(?_48703167)_(48726930_?)dup
|
|
|
NC_000015.9:g.(?_48703177)_(48726920_?)dup
|
|
|
NC_000015.9:g.(?_48703187)_(48748979_?)dup
|
|
|
NC_000015.9:g.(?_48703187)_(48936966_?)dup
|
|
|
NC_000015.9:g.(?_48729138)_(48730134_?)dup
|
|
|
NC_000015.9:g.(?_48760115)_(48760319_?)dup
|
|
|
NC_000015.9:g.(?_77287895)_(77329537_?)dup
|
|
|
NC_000015.9:g.(?_77287915)_(77287970_?)dup
|
|
|
NC_000015.9:g.(?_77310469)_(77329517_?)dup
|
|
|
NC_000015.9:g.(?_77310861)_(77315342_?)del
|
|
|
NC_000015.9:g.(?_77310868)_77315342del
|
|
|
NC_000015.9:g.(?_77317819)_(77321013_?)del
|
|
|
NC_000015.9:g.(?_77320875)_(77328296_?)del
|
|
|
NC_000015.9:g.(?_77327829)_(77327924_?)del
|
|
|
NC_000016.10:g.(?_3243121)_(3257201_?)dup
|
|
|
NC_000016.10:g.(?_81854424)_(81859183_?)del
|
|
|
NC_000016.10:g.3256984G>C
|
|
|
NC_000016.9:g.(?_3293141)_(3294608_?)del
|
|
|
NC_000016.9:g.(?_3293141)_(3297266_?)del
|
|
|
NC_000016.9:g.(?_3304138)_(3306587_?)del
|
|
|
NC_000016.9:g.(?_3306291)_(3306587_?)dup
|
|
|
NC_000016.9:g.(?_81819595)_(81819807_?)del
|
|
|
NC_000016.9:g.(?_81888029)_(81929552_?)dup
|
|
|
NC_000016.9:g.(?_81934197)_(81991623_?)dup
|
|
|
NC_000016.9:g.(?_81953069)_(81991603_?)del
|
|
|
NC_000016.9:g.(?_81957070)_(81957219_?)del
|
|
|
NC_000018.9:g.(?_2920271)_(2931461_?)del
|
|
|
NC_000018.9:g.(?_2920271)_(2960858_?)dup
|
|
|
NC_000018.9:g.(?_2920291)_(2940730_?)del
|
|
|
NC_000018.9:g.(?_2920291)_(3457938_?)dup
|
|
|
NC_000019.10:g.(?_11574990)_(11577337_?)dup
|
|
|
NC_000019.10:g.(?_53794029)_(53794156_?)del
|
|
|
NC_000019.10:g.(?_53794029)_(53798433_?)dup
|
|
|
NC_000019.10:g.(?_53794029)_(53801417_?)del
|
|
|
NC_000019.10:g.(?_53798223)_(53801417_?)del
|
|
|
NC_000019.10:g.(?_53805260)_(53805470_?)del
|
|
|
NC_000019.10:g.(?_53807475)_(53807688_?)del
|
|
|
NC_000019.10:g.(?_53814888)_(53815008_?)del
|
|
|
NC_000019.10:g.(?_53823866)_(53824194_?)del
|
|
|
NC_000019.9:g.(?_12917488)_(13010355_?)dup
|
|
|
NC_000019.9:g.(?_12923877)_(12924280_?)del
|
|
|
NC_000019.9:g.(?_12923877)_(12924280_?)dup
|
|
|
NC_000019.9:g.(?_33532300)_(33793320_?)dup
|
|
|
NC_000019.9:g.(?_33792234)_(33793330_?)dup
|
|
|
NC_000019.9:g.(?_54297283)_(54299303_?)del
|
|
|
NC_000019.9:g.(?_54297283)_(54299303_?)dup
|
|
|
NC_000019.9:g.(?_54297283)_(54318262_?)dup
|
|
|
NC_000019.9:g.(?_54297283)_(54327448_?)dup
|
|
|
NC_000019.9:g.(?_54297303)_(54297410_?)del
|
|
|
NC_000019.9:g.(?_54297303)_(54299303_?)dup
|
|
|
NC_000019.9:g.(?_54297303)_(54301687_?)del
|
|
|
NC_000019.9:g.(?_54297303)_(54301687_?)dup
|
|
|
NC_000019.9:g.(?_54297303)_(54304671_?)dup
|
|
|
NC_000019.9:g.(?_54297303)_(54307396_?)del
|
|
|
NC_000019.9:g.(?_54297303)_(54307396_?)dup
|
|
|
NC_000019.9:g.(?_54297303)_(54314562_?)dup
|
|
|
NC_000019.9:g.(?_54297303)_(54410149_?)dup
|
|
|
NC_000019.9:g.(?_54299093)_(54299303_?)del
|
|
|
NC_000019.9:g.(?_54299093)_(54299303_?)dup
|
|
|
NC_000019.9:g.(?_54299093)_(54304671_?)dup
|
|
|
NC_000019.9:g.(?_54299093)_(54327428_?)dup
|
|
|
NC_000019.9:g.(?_54301477)_(54301687_?)del
|
|
|
NC_000019.9:g.(?_54301477)_(54301687_?)dup
|
|
|
NC_000019.9:g.(?_54301477)_(54304671_?)dup
|
|
|
NC_000019.9:g.(?_54301477)_(54318262_?)dup
|
|
|
NC_000019.9:g.(?_54310729)_(54310939_?)del
|
|
|
NC_000019.9:g.(?_54310729)_(54327428_?)dup
|
|
|
NC_000019.9:g.(?_54327120)_(54327428_?)del
|
|
|
NC_000019.9:g.(?_54327120)_(54327428_?)dup
|
|
|
NC_000020.10:g.(?_35521335)_(35526967_?)dup
|
|
|
NC_000020.10:g.(?_35521335)_(35540975_?)dup
|
|
|
NC_000020.10:g.(?_35521335)_(35563612_?)dup
|
|
|
NC_000020.10:g.(?_35526205)_(35580046_?)dup
|
|
|
NC_000020.10:g.(?_35539601)_(35580066_?)dup
|
|
|
NC_000020.10:g.(?_35545105)_(35547942_?)del
|
|
|
NC_000020.10:g.(?_35547747)_(35547942_?)del
|
|
|
NC_000020.10:g.(?_35559143)_(35575227_?)dup
|
|
|
NC_000020.10:g.(?_35563412)_(35569534_?)del
|
|
|
NC_000020.10:g.(?_35563412)_(35580046_?)dup
|
|
|
NC_000020.10:g.(?_35569422)_(36500415_?)dup
|
|
|
NC_000020.10:g.(?_389363)_(411094_?)dup
|
|
|
NC_000020.10:g.(?_389402)_(390689_?)dup
|
|
|
NC_000020.10:g.(?_401495)_(443049_?)dup
|
|
|
NC_000020.10:g.(?_45362375)_(45362493_?)del
|
|
|
NC_000020.11:g.(?_36892912)_(36898564_?)dup
|
|
|
NC_000020.11:g.(?_408719)_(765794_?)dup
|
|
|
NC_000020.11:g.36904246CCT[1]
|
|
|
NC_000021.8:g.(?_34638751)_(34668714_?)dup
|
|
|
NC_000021.8:g.(?_34668469)_(34668662_?)dup
|
|
|
NC_000022.10:g.(?_17565962)_(17672720_?)dup
|
|
|
NC_000022.10:g.(?_17565962)_(18570861_?)dup
|
|
|
NC_000022.10:g.(?_17662353)_(17663671_?)dup
|
|
|
NC_000022.10:g.(?_17662373)_(17672720_?)dup
|
|
|
NC_000022.10:g.(?_17662373)_(17690567_?)dup
|
|
|
NC_000022.10:g.(?_17680419)_(17690587_?)dup
|
|
|
NC_000022.10:g.(?_17684433)_(17690567_?)dup
|
|
|
NC_012920.1:m.14372C>A
|
rs1556424431
|
|
NM_000038.6(APC):c.1333C>G (p.Gln445Glu)
|
rs876658802
|
|
NM_000038.6(APC):c.1820G>C (p.Cys607Ser)
|
rs1554083153
|
|
NM_000038.6(APC):c.2160G>A (p.Met720Ile)
|
rs1283428855
|
|
NM_000038.6(APC):c.245T>C (p.Phe82Ser)
|
rs1179254201
|
|
NM_000038.6(APC):c.2573T>C (p.Ile858Thr)
|
rs1765215022
|
|
NM_000038.6(APC):c.3263A>C (p.Lys1088Thr)
|
rs1580633119
|
|
NM_000038.6(APC):c.3365A>G (p.Asn1122Ser)
|
rs372855304
|
|
NM_000038.6(APC):c.3490A>G (p.Ile1164Val)
|
rs1554085052
|
|
NM_000038.6(APC):c.4332A>T (p.Gln1444His)
|
rs748342378
|
|
NM_000038.6(APC):c.4847A>T (p.Lys1616Ile)
|
rs1554086241
|
|
NM_000038.6(APC):c.4987G>A (p.Glu1663Lys)
|
rs758987855
|
|
NM_000038.6(APC):c.5011G>A (p.Ala1671Thr)
|
rs587781600
|
|
NM_000038.6(APC):c.6218G>A (p.Gly2073Asp)
|
rs1766164614
|
|
NM_000038.6(APC):c.6257C>G (p.Pro2086Arg)
|
rs786202975
|
|
NM_000038.6(APC):c.6727A>G (p.Thr2243Ala)
|
rs773539706
|
|
NM_000038.6(APC):c.7097A>G (p.Tyr2366Cys)
|
rs1561612604
|
|
NM_000038.6(APC):c.7403C>T (p.Ser2468Leu)
|
|
|
NM_000038.6(APC):c.7757G>T (p.Ser2586Ile)
|
rs199806334
|
|
NM_000038.6(APC):c.7946C>T (p.Pro2649Leu)
|
rs1766608503
|
|
NM_000038.6(APC):c.813G>A (p.Met271Ile)
|
rs1064793903
|
|
NM_000038.6(APC):c.8281C>T (p.Pro2761Ser)
|
rs1060503332
|
|
NM_000059.4(BRCA2):c.2141A>C (p.Glu714Ala)
|
rs2137483648
|
|
NM_000059.4(BRCA2):c.2143G>T (p.Gly715Ter)
|
rs1007336407
|
|
NM_000059.4(BRCA2):c.6902A>G (p.Glu2301Gly)
|
rs2137537213
|
|
NM_000071.3(CBS):c.1114G>A (p.Val372Ile)
|
rs775354680
|
|
NM_000077.5(CDKN2A):c.50C>G (p.Ala17Gly)
|
|
|
NM_000081.4(LYST):c.10149T>C (p.Tyr3383=)
|
rs2103101927
|
|
NM_000081.4(LYST):c.10374G>A (p.Pro3458=)
|
rs1661644862
|
|
NM_000081.4(LYST):c.10940+10_10940+12del
|
rs1659473887
|
|
NM_000081.4(LYST):c.285T>G (p.Asp95Glu)
|
rs747965676
|
|
NM_000081.4(LYST):c.45T>C (p.Asp15=)
|
rs1675833748
|
|
NM_000081.4(LYST):c.4929A>G (p.Lys1643=)
|
rs750662250
|
|
NM_000081.4(LYST):c.5461-3dup
|
rs557545474
|
|
NM_000081.4(LYST):c.7895G>C (p.Ser2632Thr)
|
rs1665932391
|
|
NM_000081.4(LYST):c.8117T>G (p.Phe2706Cys)
|
rs1260961740
|
|
NM_000081.4(LYST):c.8266C>T (p.His2756Tyr)
|
rs2103258935
|
|
NM_000081.4(LYST):c.9064A>G (p.Ser3022Gly)
|
rs2103201639
|
|
NM_000088.4(COL1A1):c.1387G>A (p.Ala463Thr)
|
rs1555573895
|
|
NM_000088.4(COL1A1):c.1456G>A (p.Glu486Lys)
|
rs1171968124
|
|
NM_000088.4(COL1A1):c.361G>T (p.Gly121Cys)
|
rs904057644
|
|
NM_000088.4(COL1A1):c.3778C>T (p.Arg1260Cys)
|
rs1555571800
|
|
NM_000089.4(COL1A2):c.3181C>A (p.Pro1061Thr)
|
rs1554398544
|
|
NM_000089.4(COL1A2):c.3710A>G (p.Gln1237Arg)
|
rs1554398713
|
|
NM_000089.4(COL1A2):c.475G>A (p.Val159Ile)
|
rs886062514
|
|
NM_000089.4(COL1A2):c.779C>T (p.Ala260Val)
|
rs1554395967
|
|
NM_000090.4(COL3A1):c.1194+5G>C
|
rs1688245023
|
|
NM_000090.4(COL3A1):c.119C>T (p.Ala40Val)
|
rs201380807
|
|
NM_000090.4(COL3A1):c.1924-8C>A
|
rs1553508534
|
|
NM_000093.5(COL5A1):c.2555A>T (p.Asn852Ile)
|
rs148146480
|
|
NM_000093.5(COL5A1):c.2802C>T (p.Gly934=)
|
rs1554801686
|
|
NM_000093.5(COL5A1):c.401G>A (p.Arg134His)
|
rs1442400098
|
|
NM_000093.5(COL5A1):c.4954+6G>C
|
rs1031138847
|
|
NM_000093.5(COL5A1):c.5350G>A (p.Ala1784Thr)
|
rs143859495
|
|
NM_000095.3(COMP):c.1521C>A (p.Asp507Glu)
|
rs2145900494
|
|
NM_000095.3(COMP):c.1581G>A (p.Thr527=)
|
rs1190598083
|
|
NM_000112.4(SLC26A2):c.1442G>C (p.Ser481Thr)
|
rs1755089465
|
|
NM_000112.4(SLC26A2):c.1443T>C (p.Ser481=)
|
rs1054014161
|
|
NM_000112.4(SLC26A2):c.395T>C (p.Leu132Pro)
|
rs1755026324
|
|
NM_000127.3(EXT1):c.*146G>C
|
rs886062634
|
|
NM_000127.3(EXT1):c.*82C>G
|
rs886062635
|
|
NM_000127.3(EXT1):c.-129A>G
|
rs886062637
|
|
NM_000127.3(EXT1):c.-139A>G
|
rs886062638
|
|
NM_000127.3(EXT1):c.-16G>A
|
rs1817895495
|
|
NM_000127.3(EXT1):c.-612G>A
|
rs886062640
|
|
NM_000127.3(EXT1):c.1000T>C (p.Cys334Arg)
|
rs1587004341
|
|
NM_000127.3(EXT1):c.1013G>A (p.Arg338His)
|
rs1288618931
|
|
NM_000127.3(EXT1):c.1028G>A (p.Gly343Glu)
|
rs1206600641
|
|
NM_000127.3(EXT1):c.1051T>G (p.Leu351Val)
|
|
|
NM_000127.3(EXT1):c.1056+4A>G
|
|
|
NM_000127.3(EXT1):c.1057-8T>C
|
|
|
NM_000127.3(EXT1):c.106C>T (p.Arg36Trp)
|
|
|
NM_000127.3(EXT1):c.1091G>T (p.Trp364Leu)
|
|
|
NM_000127.3(EXT1):c.1093G>A (p.Glu365Lys)
|
|
|
NM_000127.3(EXT1):c.10A>C (p.Lys4Gln)
|
|
|
NM_000127.3(EXT1):c.1129G>A (p.Ala377Thr)
|
rs1812173796
|
|
NM_000127.3(EXT1):c.112GAA[1] (p.Glu39del)
|
rs1782100732
|
|
NM_000127.3(EXT1):c.1138A>G (p.Ile380Val)
|
rs747020325
|
|
NM_000127.3(EXT1):c.1144G>A (p.Asp382Asn)
|
|
|
NM_000127.3(EXT1):c.1151G>A (p.Arg384Lys)
|
|
|
NM_000127.3(EXT1):c.1164+3A>G
|
|
|
NM_000127.3(EXT1):c.1165-3C>G
|
rs1812078461
|
|
NM_000127.3(EXT1):c.1165-6T>G
|
rs1812078551
|
|
NM_000127.3(EXT1):c.1175C>T (p.Thr392Ile)
|
|
|
NM_000127.3(EXT1):c.1177A>G (p.Ile393Val)
|
|
|
NM_000127.3(EXT1):c.1180A>G (p.Arg394Gly)
|
|
|
NM_000127.3(EXT1):c.1184C>G (p.Ser395Cys)
|
|
|
NM_000127.3(EXT1):c.1186A>G (p.Ile396Val)
|
|
|
NM_000127.3(EXT1):c.1187T>G (p.Ile396Ser)
|
|
|
NM_000127.3(EXT1):c.1189C>A (p.His397Asn)
|
|
|
NM_000127.3(EXT1):c.1190A>G (p.His397Arg)
|
|
|
NM_000127.3(EXT1):c.1196A>T (p.Asp399Val)
|
|
|
NM_000127.3(EXT1):c.119A>G (p.His40Arg)
|
|
|
NM_000127.3(EXT1):c.1214G>C (p.Arg405Thr)
|
rs1812077443
|
|
NM_000127.3(EXT1):c.1225C>A (p.Gln409Lys)
|
rs755694640
|
|
NM_000127.3(EXT1):c.1244A>G (p.Tyr415Cys)
|
|
|
NM_000127.3(EXT1):c.1280T>C (p.Leu427Pro)
|
rs1812075737
|
|
NM_000127.3(EXT1):c.1284+2dup
|
|
|
NM_000127.3(EXT1):c.1288A>T (p.Ile430Phe)
|
rs2129749685
|
|
NM_000127.3(EXT1):c.1296C>G (p.Asp432Glu)
|
|
|
NM_000127.3(EXT1):c.129G>T (p.Arg43Ser)
|
|
|
NM_000127.3(EXT1):c.1309C>G (p.His437Asp)
|
|
|
NM_000127.3(EXT1):c.1312A>G (p.Ile438Val)
|
|
|
NM_000127.3(EXT1):c.1314A>G (p.Ile438Met)
|
|
|
NM_000127.3(EXT1):c.1318C>T (p.Arg440Cys)
|
|
|
NM_000127.3(EXT1):c.1319G>C (p.Arg440Pro)
|
|
|
NM_000127.3(EXT1):c.131A>G (p.Asn44Ser)
|
|
|
NM_000127.3(EXT1):c.1321A>G (p.Asn441Asp)
|
|
|
NM_000127.3(EXT1):c.1332A>G (p.Ile444Met)
|
|
|
NM_000127.3(EXT1):c.1349G>A (p.Gly450Glu)
|
rs1811942159
|
|
NM_000127.3(EXT1):c.1352G>A (p.Gly451Glu)
|
rs1430395411
|
|
NM_000127.3(EXT1):c.1355T>G (p.Leu452Trp)
|
|
|
NM_000127.3(EXT1):c.1388G>T (p.Gly463Val)
|
|
|
NM_000127.3(EXT1):c.138G>T (p.Leu46Phe)
|
|
|
NM_000127.3(EXT1):c.1391A>G (p.Asp464Gly)
|
rs2129749125
|
|
NM_000127.3(EXT1):c.1400A>C (p.Tyr467Ser)
|
rs2129749069
|
|
NM_000127.3(EXT1):c.1408G>A (p.Ala470Thr)
|
rs746738537
|
|
NM_000127.3(EXT1):c.1417+6T>C
|
rs1811940247
|
|
NM_000127.3(EXT1):c.1429C>G (p.Pro477Ala)
|
|
|
NM_000127.3(EXT1):c.1430C>T (p.Pro477Leu)
|
|
|
NM_000127.3(EXT1):c.1463C>A (p.Thr488Asn)
|
rs759514310
|
|
NM_000127.3(EXT1):c.1465C>A (p.Pro489Thr)
|
|
|
NM_000127.3(EXT1):c.146C>G (p.Pro49Arg)
|
|
|
NM_000127.3(EXT1):c.1481C>T (p.Ser494Phe)
|
|
|
NM_000127.3(EXT1):c.1486C>T (p.Pro496Ser)
|
|
|
NM_000127.3(EXT1):c.1524G>C (p.Gln508His)
|
|
|
NM_000127.3(EXT1):c.1528T>C (p.Cys510Arg)
|
|
|
NM_000127.3(EXT1):c.1536+3G>A
|
rs2129740657
|
|
NM_000127.3(EXT1):c.1536+5G>C
|
|
|
NM_000127.3(EXT1):c.1536G>C (p.Gln512His)
|
rs1811889486
|
|
NM_000127.3(EXT1):c.1537A>G (p.Ile513Val)
|
|
|
NM_000127.3(EXT1):c.1543G>A (p.Val515Ile)
|
|
|
NM_000127.3(EXT1):c.154G>T (p.Asp52Tyr)
|
|
|
NM_000127.3(EXT1):c.1571C>T (p.Pro524Leu)
|
|
|
NM_000127.3(EXT1):c.157C>A (p.His53Asn)
|
|
|
NM_000127.3(EXT1):c.1582C>T (p.Arg528Cys)
|
|
|
NM_000127.3(EXT1):c.1598C>T (p.Ala533Val)
|
|
|
NM_000127.3(EXT1):c.1616T>C (p.Ile539Thr)
|
|
|
NM_000127.3(EXT1):c.1618G>A (p.Glu540Lys)
|
|
|
NM_000127.3(EXT1):c.1658A>G (p.Tyr553Cys)
|
|
|
NM_000127.3(EXT1):c.1660G>A (p.Asp554Asn)
|
|
|
NM_000127.3(EXT1):c.1660G>T (p.Asp554Tyr)
|
rs751582814
|
|
NM_000127.3(EXT1):c.1664A>T (p.Asn555Ile)
|
|
|
NM_000127.3(EXT1):c.1666A>G (p.Ile556Val)
|
|
|
NM_000127.3(EXT1):c.1670T>C (p.Ile557Thr)
|
|
|
NM_000127.3(EXT1):c.1679C>T (p.Ala560Val)
|
|
|
NM_000127.3(EXT1):c.1688G>A (p.Ser563Asn)
|
|
|
NM_000127.3(EXT1):c.16C>G (p.Arg6Gly)
|
|
|
NM_000127.3(EXT1):c.1771G>C (p.Gly591Arg)
|
|
|
NM_000127.3(EXT1):c.178G>T (p.Asp60Tyr)
|
rs2130045112
|
|
NM_000127.3(EXT1):c.17G>C (p.Arg6Pro)
|
|
|
NM_000127.3(EXT1):c.1801A>G (p.Asn601Asp)
|
|
|
NM_000127.3(EXT1):c.180C>A (p.Asp60Glu)
|
|
|
NM_000127.3(EXT1):c.1814G>A (p.Arg605Gln)
|
rs755747479
|
|
NM_000127.3(EXT1):c.1852A>G (p.Met618Val)
|
|
|
NM_000127.3(EXT1):c.1867G>A (p.Ala623Thr)
|
rs1823251698
|
|
NM_000127.3(EXT1):c.1883+5G>A
|
|
|
NM_000127.3(EXT1):c.1883+6del
|
|
|
NM_000127.3(EXT1):c.1883A>G (p.Lys628Arg)
|
|
|
NM_000127.3(EXT1):c.1885T>C (p.Tyr629His)
|
|
|
NM_000127.3(EXT1):c.1885TAT[1] (p.Tyr630del)
|
rs1823215172
|
|
NM_000127.3(EXT1):c.188G>A (p.Arg63His)
|
|
|
NM_000127.3(EXT1):c.188G>T (p.Arg63Leu)
|
rs187891947
|
|
NM_000127.3(EXT1):c.18C>G (p.Arg6=)
|
rs1199624139
|
|
NM_000127.3(EXT1):c.1910A>G (p.Tyr637Cys)
|
|
|
NM_000127.3(EXT1):c.1936G>T (p.Val646Leu)
|
rs1823214606
|
|
NM_000127.3(EXT1):c.1948G>A (p.Ala650Thr)
|
|
|
NM_000127.3(EXT1):c.1971G>C (p.Met657Ile)
|
|
|
NM_000127.3(EXT1):c.197T>C (p.Val66Ala)
|
rs1242925512
|
|
NM_000127.3(EXT1):c.1987G>C (p.Ala663Pro)
|
|
|
NM_000127.3(EXT1):c.19T>G (p.Tyr7Asp)
|
rs2130046079
|
|
NM_000127.3(EXT1):c.200C>A (p.Pro67His)
|
rs371817652
|
|
NM_000127.3(EXT1):c.200C>G (p.Pro67Arg)
|
rs371817652
|
|
NM_000127.3(EXT1):c.2055+5G>A
|
rs1823212383
|
|
NM_000127.3(EXT1):c.2063G>A (p.Arg688Gln)
|
|
|
NM_000127.3(EXT1):c.2065G>A (p.Ala689Thr)
|
|
|
NM_000127.3(EXT1):c.2065G>T (p.Ala689Ser)
|
|
|
NM_000127.3(EXT1):c.2071C>T (p.Arg691Cys)
|
rs1586987089
|
|
NM_000127.3(EXT1):c.2098C>A (p.Gln700Lys)
|
|
|
NM_000127.3(EXT1):c.20A>G (p.Tyr7Cys)
|
|
|
NM_000127.3(EXT1):c.2120C>T (p.Thr707Met)
|
rs756718693
|
|
NM_000127.3(EXT1):c.2125G>T (p.Ala709Ser)
|
|
|
NM_000127.3(EXT1):c.2134T>C (p.Phe712Leu)
|
|
|
NM_000127.3(EXT1):c.213G>C (p.Leu71Phe)
|
|
|
NM_000127.3(EXT1):c.2143A>G (p.Met715Val)
|
rs1225915837
|
|
NM_000127.3(EXT1):c.2156A>C (p.His719Pro)
|
rs751787859
|
|
NM_000127.3(EXT1):c.2161C>G (p.Gln721Glu)
|
|
|
NM_000127.3(EXT1):c.2170C>T (p.Leu724Phe)
|
|
|
NM_000127.3(EXT1):c.2194C>T (p.Gln732Ter)
|
|
|
NM_000127.3(EXT1):c.2198_2203delinsAAGAGGACGGTCTT (p.Val733fs)
|
rs2129679465
|
|
NM_000127.3(EXT1):c.2203A>G (p.Ile735Val)
|
|
|
NM_000127.3(EXT1):c.2205T>C (p.Ile735=)
|
rs1823135353
|
|
NM_000127.3(EXT1):c.2226C>A (p.Asp742Glu)
|
|
|
NM_000127.3(EXT1):c.223G>T (p.Asp75Tyr)
|
|
|
NM_000127.3(EXT1):c.232G>A (p.Val78Met)
|
|
|
NM_000127.3(EXT1):c.238A>G (p.Ile80Val)
|
rs1817886276
|
|
NM_000127.3(EXT1):c.245C>T (p.Pro82Leu)
|
|
|
NM_000127.3(EXT1):c.251A>G (p.Gln84Arg)
|
|
|
NM_000127.3(EXT1):c.260A>T (p.Asp87Val)
|
rs2130044605
|
|
NM_000127.3(EXT1):c.266A>C (p.Asn89Thr)
|
|
|
NM_000127.3(EXT1):c.277T>A (p.Tyr93Asn)
|
rs1402667727
|
|
NM_000127.3(EXT1):c.286A>G (p.Lys96Glu)
|
|
|
NM_000127.3(EXT1):c.291G>T (p.Lys97Asn)
|
rs2130044422
|
|
NM_000127.3(EXT1):c.295C>T (p.Arg99Cys)
|
|
|
NM_000127.3(EXT1):c.318C>A (p.Phe106Leu)
|
rs1817884143
|
|
NM_000127.3(EXT1):c.31C>T (p.Leu11Phe)
|
rs769143352
|
|
NM_000127.3(EXT1):c.322C>T (p.Leu108Phe)
|
rs2130044245
|
|
NM_000127.3(EXT1):c.329A>G (p.Lys110Arg)
|
rs1178109514
|
|
NM_000127.3(EXT1):c.349T>C (p.Tyr117His)
|
|
|
NM_000127.3(EXT1):c.371G>A (p.Gly124Glu)
|
rs761940324
|
|
NM_000127.3(EXT1):c.404T>C (p.Leu135Pro)
|
|
|
NM_000127.3(EXT1):c.407C>A (p.Ala136Glu)
|
|
|
NM_000127.3(EXT1):c.409G>A (p.Ala137Thr)
|
|
|
NM_000127.3(EXT1):c.419G>A (p.Gly140Asp)
|
|
|
NM_000127.3(EXT1):c.422C>T (p.Ser141Phe)
|
rs1817880635
|
|
NM_000127.3(EXT1):c.428T>C (p.Phe143Ser)
|
rs1188458258
|
|
NM_000127.3(EXT1):c.439G>T (p.Asp147Tyr)
|
|
|
NM_000127.3(EXT1):c.449A>G (p.Gln150Arg)
|
rs1817880148
|
|
NM_000127.3(EXT1):c.44C>G (p.Ser15Cys)
|
|
|
NM_000127.3(EXT1):c.455G>A (p.Cys152Tyr)
|
rs2130043370
|
|
NM_000127.3(EXT1):c.46T>G (p.Cys16Gly)
|
|
|
NM_000127.3(EXT1):c.472C>G (p.Leu158Val)
|
|
|
NM_000127.3(EXT1):c.47G>C (p.Cys16Ser)
|
|
|
NM_000127.3(EXT1):c.481T>G (p.Leu161Val)
|
|
|
NM_000127.3(EXT1):c.499T>C (p.Ser167Pro)
|
rs1227559201
|
|
NM_000127.3(EXT1):c.49C>T (p.Leu17Phe)
|
|
|
NM_000127.3(EXT1):c.517A>G (p.Asn173Asp)
|
rs1448140995
|
|
NM_000127.3(EXT1):c.518A>G (p.Asn173Ser)
|
rs1817878624
|
|
NM_000127.3(EXT1):c.535C>G (p.Gln179Glu)
|
|
|
NM_000127.3(EXT1):c.537G>C (p.Gln179His)
|
|
|
NM_000127.3(EXT1):c.541C>G (p.Leu181Val)
|
|
|
NM_000127.3(EXT1):c.544C>T (p.His182Tyr)
|
|
|
NM_000127.3(EXT1):c.559G>A (p.Gly187Ser)
|
|
|
NM_000127.3(EXT1):c.563G>A (p.Arg188Lys)
|
rs775696069
|
|
NM_000127.3(EXT1):c.564G>T (p.Arg188Ser)
|
rs1817877271
|
|
NM_000127.3(EXT1):c.567_568delinsAT (p.Asn189_His190delinsLysTyr)
|
rs1817877229
|
|
NM_000127.3(EXT1):c.568_570del (p.His190del)
|
rs1817877188
|
|
NM_000127.3(EXT1):c.574A>G (p.Ile192Val)
|
|
|
NM_000127.3(EXT1):c.575T>A (p.Ile192Asn)
|
rs1817877044
|
|
NM_000127.3(EXT1):c.579T>A (p.Phe193Leu)
|
rs2130042837
|
|
NM_000127.3(EXT1):c.595A>G (p.Thr199Ala)
|
rs1817876310
|
|
NM_000127.3(EXT1):c.596C>A (p.Thr199Asn)
|
|
|
NM_000127.3(EXT1):c.600G>C (p.Trp200Cys)
|
rs1817876148
|
|
NM_000127.3(EXT1):c.60G>T (p.Leu20Phe)
|
rs1817893321
|
|
NM_000127.3(EXT1):c.612C>A (p.Thr204=)
|
|
|
NM_000127.3(EXT1):c.635G>C (p.Gly212Ala)
|
|
|
NM_000127.3(EXT1):c.646C>G (p.Leu216Val)
|
|
|
NM_000127.3(EXT1):c.654A>C (p.Lys218Asn)
|
|
|
NM_000127.3(EXT1):c.658A>G (p.Ser220Gly)
|
rs1554601506
|
|
NM_000127.3(EXT1):c.668C>T (p.Thr223Ile)
|
|
|
NM_000127.3(EXT1):c.692A>T (p.Asp231Val)
|
|
|
NM_000127.3(EXT1):c.692_694del (p.Asp231del)
|
rs1817873196
|
|
NM_000127.3(EXT1):c.69C>A (p.Phe23Leu)
|
|
|
NM_000127.3(EXT1):c.70G>A (p.Gly24Arg)
|
rs1817893036
|
|
NM_000127.3(EXT1):c.718G>C (p.Asp240His)
|
|
|
NM_000127.3(EXT1):c.739G>A (p.Glu247Lys)
|
|
|
NM_000127.3(EXT1):c.73G>C (p.Gly25Arg)
|
|
|
NM_000127.3(EXT1):c.746G>A (p.Gly249Glu)
|
|
|
NM_000127.3(EXT1):c.757T>C (p.Phe253Leu)
|
rs1436385815
|
|
NM_000127.3(EXT1):c.764C>A (p.Thr255Asn)
|
|
|
NM_000127.3(EXT1):c.769C>T (p.Pro257Ser)
|
rs1817871592
|
|
NM_000127.3(EXT1):c.773C>A (p.Pro258His)
|
rs2130041856
|
|
NM_000127.3(EXT1):c.775C>T (p.Leu259Phe)
|
|
|
NM_000127.3(EXT1):c.796T>A (p.Phe266Ile)
|
rs2130041754
|
|
NM_000127.3(EXT1):c.809G>C (p.Arg270Thr)
|
|
|
NM_000127.3(EXT1):c.832G>T (p.Asp278Tyr)
|
rs2130041549
|
|
NM_000127.3(EXT1):c.839G>C (p.Arg280Thr)
|
rs1586279403
|
|
NM_000127.3(EXT1):c.842A>C (p.Asn281Thr)
|
|
|
NM_000127.3(EXT1):c.845C>T (p.Ala282Val)
|
|
|
NM_000127.3(EXT1):c.850T>C (p.Tyr284His)
|
|
|
NM_000127.3(EXT1):c.856G>C (p.Val286Leu)
|
|
|
NM_000127.3(EXT1):c.871G>A (p.Asp291Asn)
|
|
|
NM_000127.3(EXT1):c.873C>G (p.Asp291Glu)
|
rs372750330
|
|
NM_000127.3(EXT1):c.874G>T (p.Val292Phe)
|
rs1586279359
|
|
NM_000127.3(EXT1):c.889A>T (p.Thr297Ser)
|
rs1817868656
|
|
NM_000127.3(EXT1):c.901G>A (p.Gly301Ser)
|
|
|
NM_000127.3(EXT1):c.905A>G (p.Lys302Arg)
|
|
|
NM_000127.3(EXT1):c.910T>A (p.Trp304Arg)
|
rs1413726979
|
|
NM_000127.3(EXT1):c.914A>G (p.Gln305Arg)
|
|
|
NM_000127.3(EXT1):c.923A>G (p.Lys308Arg)
|
|
|
NM_000127.3(EXT1):c.934_936del (p.Cys312del)
|
rs1817867722
|
|
NM_000127.3(EXT1):c.947A>G (p.Asn316Ser)
|
|
|
NM_000127.3(EXT1):c.950C>G (p.Thr317Ser)
|
rs748945641
|
|
NM_000127.3(EXT1):c.962+5G>C
|
|
|
NM_000127.3(EXT1):c.962A>G (p.Lys321Arg)
|
|
|
NM_000127.3(EXT1):c.963G>A (p.Lys321=)
|
|
|
NM_000127.3(EXT1):c.977A>G (p.Glu326Gly)
|
|
|
NM_000127.3(EXT1):c.98G>A (p.Ser33Asn)
|
|
|
NM_000127.3(EXT1):c.995_1000del (p.Thr332_Cys334delinsSer)
|
rs2129791337
|
|
NM_000127.3(EXT1):c.999C>A (p.Phe333Leu)
|
|
|
NM_000138.4(FBN1):c.-371T>C
|
rs886051257
|
|
NM_000138.4(FBN1):c.-389_-388TC[1]
|
rs886051258
|
|
NM_000138.4(FBN1):c.-400A>T
|
rs1890299170
|
|
NM_000138.4(FBN1):c.3232_3236delinsATCTC (p.Pro1078_Asp1079delinsIleSer)
|
rs1555398643
|
|
NM_000138.4(FBN1):c.7703_7708delTGGACG
|
rs1060501015
|
|
NM_000138.4(FBN1):c.8051delinsTT (p.Gly2684fs)
|
rs1555393824
|
|
NM_000138.5(FBN1):c.*1007G>T
|
rs886051236
|
|
NM_000138.5(FBN1):c.*107A>G
|
rs562749473
|
|
NM_000138.5(FBN1):c.*1122C>T
|
rs2042846511
|
|
NM_000138.5(FBN1):c.*1201T>G
|
rs574181586
|
|
NM_000138.5(FBN1):c.*1396C>T
|
rs886051235
|
|
NM_000138.5(FBN1):c.*1477C>A
|
rs886051233
|
|
NM_000138.5(FBN1):c.*1635C>A
|
rs886051232
|
|
NM_000138.5(FBN1):c.*1733A>G
|
rs886051230
|
|
NM_000138.5(FBN1):c.*1943G>T
|
rs886051229
|
|
NM_000138.5(FBN1):c.*2078G>T
|
rs886051228
|
|
NM_000138.5(FBN1):c.*2114T>A
|
rs886051227
|
|
NM_000138.5(FBN1):c.*2260C>A
|
rs886051225
|
|
NM_000138.5(FBN1):c.*235T>C
|
rs1597506366
|
|
NM_000138.5(FBN1):c.*2421C>A
|
rs886051224
|
|
NM_000138.5(FBN1):c.*2443G>T
|
rs886051223
|
|
NM_000138.5(FBN1):c.*2533C>A
|
rs886051222
|
|
NM_000138.5(FBN1):c.*2578C>T
|
rs761025257
|
|
NM_000138.5(FBN1):c.*2594G>T
|
rs886051220
|
|
NM_000138.5(FBN1):c.*2638T>C
|
rs886051219
|
|
NM_000138.5(FBN1):c.*268G>C
|
rs886051242
|
|
NM_000138.5(FBN1):c.*286C>T
|
rs886051241
|
|
NM_000138.5(FBN1):c.*311G>A
|
rs894774727
|
|
NM_000138.5(FBN1):c.*325T>C
|
rs537909430
|
|
NM_000138.5(FBN1):c.*399C>A
|
rs2042852375
|
|
NM_000138.5(FBN1):c.*406G>T
|
rs886051240
|
|
NM_000138.5(FBN1):c.*724A>C
|
rs886051239
|
|
NM_000138.5(FBN1):c.*938G>T
|
rs886051238
|
|
NM_000138.5(FBN1):c.*948G>T
|
rs749224599
|
|
NM_000138.5(FBN1):c.*987C>T
|
rs886051237
|
|
NM_000138.5(FBN1):c.-108G>A
|
rs1029606067
|
|
NM_000138.5(FBN1):c.-117del
|
rs193922178
|
|
NM_000138.5(FBN1):c.-12C>T
|
|
|
NM_000138.5(FBN1):c.-132A>C
|
rs886051255
|
|
NM_000138.5(FBN1):c.-70C>A
|
rs886051253
|
|
NM_000138.5(FBN1):c.1015G>A (p.Ala339Thr)
|
rs2141336224
|
|
NM_000138.5(FBN1):c.1015G>T (p.Ala339Ser)
|
rs2141336224
|
|
NM_000138.5(FBN1):c.1048C>T (p.Pro350Ser)
|
|
|
NM_000138.5(FBN1):c.1052A>G (p.Gln351Arg)
|
rs794728163
|
|
NM_000138.5(FBN1):c.1057A>G (p.Ile353Val)
|
|
|
NM_000138.5(FBN1):c.1057A>T (p.Ile353Leu)
|
rs750653834
|
|
NM_000138.5(FBN1):c.1070A>T (p.Gln357Leu)
|
|
|
NM_000138.5(FBN1):c.1073G>A (p.Cys358Tyr)
|
rs1555400606
|
|
NM_000138.5(FBN1):c.1082A>T (p.Asp361Val)
|
rs2043845991
|
|
NM_000138.5(FBN1):c.1091G>C (p.Arg364Pro)
|
rs536588176
|
|
NM_000138.5(FBN1):c.1099T>C (p.Ser367Pro)
|
rs2043845566
|
|
NM_000138.5(FBN1):c.109A>T (p.Thr37Ser)
|
rs1890260265
|
|
NM_000138.5(FBN1):c.1100C>T (p.Ser367Phe)
|
|
|
NM_000138.5(FBN1):c.1106G>C (p.Gly369Ala)
|
|
|
NM_000138.5(FBN1):c.1114G>A (p.Val372Ile)
|
|
|
NM_000138.5(FBN1):c.1118C>A (p.Ala373Asp)
|
|
|
NM_000138.5(FBN1):c.1125G>T (p.Glu375Asp)
|
|
|
NM_000138.5(FBN1):c.1128_1147+2dup
|
|
|
NM_000138.5(FBN1):c.112A>G (p.Arg38Gly)
|
|
|
NM_000138.5(FBN1):c.1133C>G (p.Pro378Arg)
|
rs1274000764
|
|
NM_000138.5(FBN1):c.1141G>A (p.Ala381Thr)
|
|
|
NM_000138.5(FBN1):c.1144A>G (p.Thr382Ala)
|
|
|
NM_000138.5(FBN1):c.1145C>T (p.Thr382Ile)
|
|
|
NM_000138.5(FBN1):c.1147+3A>C
|
rs1597583956
|
|
NM_000138.5(FBN1):c.1147G>A (p.Glu383Lys)
|
rs794728325
|
|
NM_000138.5(FBN1):c.1148-16del
|
|
|
NM_000138.5(FBN1):c.1149G>A (p.Glu383=)
|
|
|
NM_000138.5(FBN1):c.1156A>C (p.Asn386His)
|
rs1597581597
|
|
NM_000138.5(FBN1):c.1158C>G (p.Asn386Lys)
|
rs368737502
|
|
NM_000138.5(FBN1):c.1168T>C (p.Ser390Pro)
|
rs779113310
|
|
NM_000138.5(FBN1):c.116C>A (p.Ala39Asp)
|
|
|
NM_000138.5(FBN1):c.116C>G (p.Ala39Gly)
|
|
|
NM_000138.5(FBN1):c.1174C>A (p.Pro392Thr)
|
|
|
NM_000138.5(FBN1):c.1175C>G (p.Pro392Arg)
|
rs534127494
|
|
NM_000138.5(FBN1):c.1175C>T (p.Pro392Leu)
|
rs534127494
|
|
NM_000138.5(FBN1):c.1178T>C (p.Met393Thr)
|
|
|
NM_000138.5(FBN1):c.1193G>A (p.Arg398Lys)
|
rs886051250
|
|
NM_000138.5(FBN1):c.1195C>G (p.Pro399Ala)
|
rs886039155
|
|
NM_000138.5(FBN1):c.1196C>T (p.Pro399Leu)
|
rs1363393532
|
|
NM_000138.5(FBN1):c.1201T>A (p.Tyr401Asn)
|
|
|
NM_000138.5(FBN1):c.1202A>G (p.Tyr401Cys)
|
rs2141331103
|
|
NM_000138.5(FBN1):c.1205C>T (p.Pro402Leu)
|
rs1597581542
|
|
NM_000138.5(FBN1):c.1211C>A (p.Pro404Gln)
|
rs779930519
|
|
NM_000138.5(FBN1):c.1211C>G (p.Pro404Arg)
|
rs779930519
|
|
NM_000138.5(FBN1):c.1216C>A (p.Leu406Ile)
|
|
|
NM_000138.5(FBN1):c.121C>G (p.Arg41Gly)
|
rs1158441291
|
|
NM_000138.5(FBN1):c.1222C>T (p.Pro408Ser)
|
|
|
NM_000138.5(FBN1):c.1226T>G (p.Ile409Ser)
|
|
|
NM_000138.5(FBN1):c.122G>C (p.Arg41Pro)
|
rs1890259872
|
|
NM_000138.5(FBN1):c.1231C>T (p.Pro411Ser)
|
rs2141331032
|
|
NM_000138.5(FBN1):c.1262C>T (p.Pro421Leu)
|
|
|
NM_000138.5(FBN1):c.1270C>A (p.Gln424Lys)
|
|
|
NM_000138.5(FBN1):c.1273A>G (p.Ile425Val)
|
|
|
NM_000138.5(FBN1):c.1286G>A (p.Arg429Gln)
|
rs368089138
|
|
NM_000138.5(FBN1):c.1286G>C (p.Arg429Pro)
|
|
|
NM_000138.5(FBN1):c.1286G>T (p.Arg429Leu)
|
rs368089138
|
|
NM_000138.5(FBN1):c.1288C>A (p.Pro430Thr)
|
rs2043799392
|
|
NM_000138.5(FBN1):c.128A>C (p.Lys43Thr)
|
rs766081333
|
|
NM_000138.5(FBN1):c.1313C>G (p.Ser438Cys)
|
rs2043799037
|
|
NM_000138.5(FBN1):c.1313C>T (p.Ser438Phe)
|
rs2043799037
|
|
NM_000138.5(FBN1):c.1315C>T (p.Arg439Trp)
|
|
|
NM_000138.5(FBN1):c.131G>A (p.Arg44Lys)
|
rs1890259213
|
|
NM_000138.5(FBN1):c.1321C>A (p.Pro441Thr)
|
|
|
NM_000138.5(FBN1):c.1322C>T (p.Pro441Leu)
|
|
|
NM_000138.5(FBN1):c.1328-9T>A
|
rs1209671382
|
|
NM_000138.5(FBN1):c.132A>T (p.Arg44Ser)
|
rs1890259134
|
|
NM_000138.5(FBN1):c.133A>G (p.Arg45Gly)
|
rs1597652333
|
|
NM_000138.5(FBN1):c.1369C>T (p.Arg457Cys)
|
rs2141330047
|
|
NM_000138.5(FBN1):c.1390C>A (p.Arg464Ser)
|
rs587782943
|
|
NM_000138.5(FBN1):c.1390C>T (p.Arg464Cys)
|
rs587782943
|
|
NM_000138.5(FBN1):c.139G>T (p.Gly47Cys)
|
rs762400500
|
|
NM_000138.5(FBN1):c.140G>A (p.Gly47Asp)
|
|
|
NM_000138.5(FBN1):c.1418G>A (p.Arg473Gln)
|
|
|
NM_000138.5(FBN1):c.1436G>A (p.Gly479Glu)
|
rs1247260475
|
|
NM_000138.5(FBN1):c.143G>A (p.Gly48Glu)
|
|
|
NM_000138.5(FBN1):c.1448A>C (p.Asp483Ala)
|
|
|
NM_000138.5(FBN1):c.1454G>A (p.Arg485His)
|
|
|
NM_000138.5(FBN1):c.1457G>A (p.Gly486Glu)
|
rs1597580913
|
|
NM_000138.5(FBN1):c.1468+4C>A
|
rs765579667
|
|
NM_000138.5(FBN1):c.1468+5del
|
|
|
NM_000138.5(FBN1):c.1468G>A (p.Asp490Asn)
|
rs1555400371
|
|
NM_000138.5(FBN1):c.1468G>T (p.Asp490Tyr)
|
rs1555400371
|
|
NM_000138.5(FBN1):c.1469-2_1470dup
|
rs1597580040
|
|
NM_000138.5(FBN1):c.1469-5T>G
|
rs1060504144
|
|
NM_000138.5(FBN1):c.146G>C (p.Gly49Ala)
|
rs1382204819
|
|
NM_000138.5(FBN1):c.146G>T (p.Gly49Val)
|
|
|
NM_000138.5(FBN1):c.1472T>C (p.Val491Ala)
|
rs2043779139
|
|
NM_000138.5(FBN1):c.1474G>A (p.Asp492Asn)
|
|
|
NM_000138.5(FBN1):c.1486A>G (p.Lys496Glu)
|
|
|
NM_000138.5(FBN1):c.1498G>C (p.Ala500Pro)
|
rs886044236
|
|
NM_000138.5(FBN1):c.1502G>T (p.Gly501Val)
|
|
|
NM_000138.5(FBN1):c.1504G>C (p.Gly502Arg)
|
|
|
NM_000138.5(FBN1):c.1504G>T (p.Gly502Cys)
|
rs762111810
|
|
NM_000138.5(FBN1):c.1513A>G (p.Ile505Val)
|
rs2043778389
|
|
NM_000138.5(FBN1):c.1523_1525del (p.Gln508_Gly509delinsArg)
|
|
|
NM_000138.5(FBN1):c.1524G>C (p.Gln508His)
|
rs1566916256
|
|
NM_000138.5(FBN1):c.1526G>A (p.Gly509Asp)
|
|
|
NM_000138.5(FBN1):c.1530G>C (p.Ser510=)
|
|
|
NM_000138.5(FBN1):c.1535C>T (p.Thr512Ile)
|
rs1555400280
|
|
NM_000138.5(FBN1):c.153C>A (p.Asp51Glu)
|
rs1057524406
|
|
NM_000138.5(FBN1):c.1553G>T (p.Gly518Val)
|
rs794728169
|
|
NM_000138.5(FBN1):c.1556A>G (p.Tyr519Cys)
|
rs1555400278
|
|
NM_000138.5(FBN1):c.155_156delinsTT (p.Ala52Val)
|
rs2140787437
|
|
NM_000138.5(FBN1):c.1573C>T (p.Arg525Trp)
|
rs768253008
|
|
NM_000138.5(FBN1):c.1582T>A (p.Cys528Ser)
|
|
|
NM_000138.5(FBN1):c.1589-12C>G
|
|
|
NM_000138.5(FBN1):c.1589-5T>C
|
rs1371798538
|
|
NM_000138.5(FBN1):c.1589A>G (p.Asp530Gly)
|
rs794728171
|
|
NM_000138.5(FBN1):c.1589A>T (p.Asp530Val)
|
|
|
NM_000138.5(FBN1):c.1592T>G (p.Ile531Ser)
|
|
|
NM_000138.5(FBN1):c.1595A>G (p.Asp532Gly)
|
rs745422205
|
|
NM_000138.5(FBN1):c.1603T>G (p.Leu535Val)
|
|
|
NM_000138.5(FBN1):c.160A>C (p.Lys54Gln)
|
|
|
NM_000138.5(FBN1):c.1625A>G (p.Asn542Ser)
|
rs963564435
|
|
NM_000138.5(FBN1):c.1628A>T (p.Asn543Ile)
|
rs1060501098
|
|
NM_000138.5(FBN1):c.162A>G (p.Lys54=)
|
rs777116853
|
|
NM_000138.5(FBN1):c.1639A>C (p.Ile547Leu)
|
|
|
NM_000138.5(FBN1):c.164+3A>C
|
rs1597652265
|
|
NM_000138.5(FBN1):c.164+3A>G
|
|
|
NM_000138.5(FBN1):c.1640T>A (p.Ile547Asn)
|
rs112269822
|
|
NM_000138.5(FBN1):c.1641C>G (p.Ile547Met)
|
|
|
NM_000138.5(FBN1):c.165-14T>A
|
|
|
NM_000138.5(FBN1):c.165-32del
|
rs193922180
|
|
NM_000138.5(FBN1):c.165-46CTT[2]
|
rs386134232
|
|
NM_000138.5(FBN1):c.1657T>A (p.Phe553Ile)
|
rs2043746162
|
|
NM_000138.5(FBN1):c.1657T>G (p.Phe553Val)
|
|
|
NM_000138.5(FBN1):c.1661A>C (p.His554Pro)
|
|
|
NM_000138.5(FBN1):c.1666G>A (p.Val556Met)
|
rs1239988676
|
|
NM_000138.5(FBN1):c.1693C>G (p.Arg565Gly)
|
|
|
NM_000138.5(FBN1):c.1700G>A (p.Gly567Glu)
|
rs768489747
|
|
NM_000138.5(FBN1):c.170A>G (p.Asn57Ser)
|
rs2044669666
|
|
NM_000138.5(FBN1):c.1713A>G (p.Glu571=)
|
|
|
NM_000138.5(FBN1):c.1714+4A>G
|
rs1189850321
|
|
NM_000138.5(FBN1):c.1714+5T>C
|
rs2043745384
|
|
NM_000138.5(FBN1):c.1714G>A (p.Asp572Asn)
|
rs2141323230
|
|
NM_000138.5(FBN1):c.1715-9T>A
|
rs1057520813
|
|
NM_000138.5(FBN1):c.1715A>G (p.Asp572Gly)
|
rs1555399976
|
|
NM_000138.5(FBN1):c.1717A>G (p.Met573Val)
|
|
|
NM_000138.5(FBN1):c.1718T>C (p.Met573Thr)
|
rs2141321700
|
|
NM_000138.5(FBN1):c.1723G>A (p.Glu575Lys)
|
rs1259811604
|
|
NM_000138.5(FBN1):c.1726T>A (p.Cys576Ser)
|
rs794728174
|
|
NM_000138.5(FBN1):c.1732A>G (p.Ile578Val)
|
|
|
NM_000138.5(FBN1):c.1733T>G (p.Ile578Arg)
|
|
|
NM_000138.5(FBN1):c.1734A>G (p.Ile578Met)
|
|
|
NM_000138.5(FBN1):c.1741A>G (p.Met581Val)
|
|
|
NM_000138.5(FBN1):c.1743G>A (p.Met581Ile)
|
|
|
NM_000138.5(FBN1):c.1752T>A (p.Asn584Lys)
|
|
|
NM_000138.5(FBN1):c.1754G>C (p.Gly585Ala)
|
rs1060501041
|
|
NM_000138.5(FBN1):c.1766A>G (p.Asn589Ser)
|
rs1555399962
|
|
NM_000138.5(FBN1):c.1773T>A (p.Asp591Glu)
|
|
|
NM_000138.5(FBN1):c.1798C>G (p.Pro600Ala)
|
|
|
NM_000138.5(FBN1):c.1798C>T (p.Pro600Ser)
|
|
|
NM_000138.5(FBN1):c.179G>A (p.Gly60Glu)
|
|
|
NM_000138.5(FBN1):c.1805T>C (p.Phe602Ser)
|
rs1555399952
|
|
NM_000138.5(FBN1):c.1805T>G (p.Phe602Cys)
|
|
|
NM_000138.5(FBN1):c.1813G>T (p.Ala605Ser)
|
|
|
NM_000138.5(FBN1):c.1823G>A (p.Gly608Glu)
|
rs368283028
|
|
NM_000138.5(FBN1):c.1832G>A (p.Cys611Tyr)
|
|
|
NM_000138.5(FBN1):c.1835A>G (p.Lys612Arg)
|
|
|
NM_000138.5(FBN1):c.1837+5G>A
|
rs1445085747
|
|
NM_000138.5(FBN1):c.1841T>C (p.Ile614Thr)
|
|
|
NM_000138.5(FBN1):c.1846G>A (p.Glu616Lys)
|
rs397515764
|
|
NM_000138.5(FBN1):c.1856C>T (p.Thr619Ile)
|
|
|
NM_000138.5(FBN1):c.1862G>A (p.Gly621Glu)
|
rs1555399833
|
|
NM_000138.5(FBN1):c.1871T>C (p.Met624Thr)
|
rs1597575080
|
|
NM_000138.5(FBN1):c.1871T>G (p.Met624Arg)
|
rs1597575080
|
|
NM_000138.5(FBN1):c.187T>C (p.Tyr63His)
|
|
|
NM_000138.5(FBN1):c.188A>G (p.Tyr63Cys)
|
rs1303389437
|
|
NM_000138.5(FBN1):c.1895A>G (p.Asp632Gly)
|
|
|
NM_000138.5(FBN1):c.1897G>T (p.Gly633Cys)
|
rs2141317297
|
|
NM_000138.5(FBN1):c.1908A>G (p.Arg636=)
|
rs886039089
|
|
NM_000138.5(FBN1):c.1908A>T (p.Arg636Ser)
|
|
|
NM_000138.5(FBN1):c.1912G>A (p.Glu638Lys)
|
rs2141317254
|
|
NM_000138.5(FBN1):c.1928T>G (p.Leu643Arg)
|
rs1555399813
|
|
NM_000138.5(FBN1):c.1929_1930delinsTT (p.Ala644Ser)
|
rs1555399812
|
|
NM_000138.5(FBN1):c.1939C>G (p.Leu647Val)
|
|
|
NM_000138.5(FBN1):c.1940T>C (p.Leu647Pro)
|
rs1566913983
|
|
NM_000138.5(FBN1):c.1944T>A (p.Asp648Glu)
|
rs2141317175
|
|
NM_000138.5(FBN1):c.1960+6A>T
|
rs1200860234
|
|
NM_000138.5(FBN1):c.1960G>C (p.Asp654His)
|
rs1566913969
|
|
NM_000138.5(FBN1):c.1961-3T>C
|
|
|
NM_000138.5(FBN1):c.1963A>G (p.Thr655Ala)
|
|
|
NM_000138.5(FBN1):c.1964C>T (p.Thr655Ile)
|
|
|
NM_000138.5(FBN1):c.1967A>G (p.His656Arg)
|
rs1555399777
|
|
NM_000138.5(FBN1):c.1970T>C (p.Met657Thr)
|
rs2043686451
|
|
NM_000138.5(FBN1):c.1973G>A (p.Arg658Gln)
|
rs794728181
|
|
NM_000138.5(FBN1):c.1979C>T (p.Thr660Ile)
|
|
|
NM_000138.5(FBN1):c.197A>T (p.Tyr66Phe)
|
|
|
NM_000138.5(FBN1):c.1984T>G (p.Tyr662Asp)
|
|
|
NM_000138.5(FBN1):c.1992A>G (p.Gly664=)
|
|
|
NM_000138.5(FBN1):c.2006A>C (p.Gln669Pro)
|
|
|
NM_000138.5(FBN1):c.2006A>T (p.Gln669Leu)
|
|
|
NM_000138.5(FBN1):c.2022G>C (p.Leu674Phe)
|
rs794728182
|
|
NM_000138.5(FBN1):c.2022G>T (p.Leu674Phe)
|
rs794728182
|
|
NM_000138.5(FBN1):c.2026G>T (p.Gly676Cys)
|
rs2141315849
|
|
NM_000138.5(FBN1):c.2031T>A (p.Ala677=)
|
rs762312642
|
|
NM_000138.5(FBN1):c.2038A>G (p.Lys680Glu)
|
|
|
NM_000138.5(FBN1):c.2044G>C (p.Glu682Gln)
|
rs908212152
|
|
NM_000138.5(FBN1):c.2058_2063del (p.Ser687_Thr688del)
|
rs794728298
|
|
NM_000138.5(FBN1):c.206_208del (p.Pro69_Gly70delinsArg)
|
rs1555405660
|
|
NM_000138.5(FBN1):c.2071G>A (p.Ala691Thr)
|
|
|
NM_000138.5(FBN1):c.2084C>A (p.Pro695His)
|
rs1555399754
|
|
NM_000138.5(FBN1):c.208G>A (p.Gly70Arg)
|
rs2044669023
|
|
NM_000138.5(FBN1):c.2091G>T (p.Gln697His)
|
rs1555399752
|
|
NM_000138.5(FBN1):c.2099C>T (p.Pro700Leu)
|
rs2141315649
|
|
NM_000138.5(FBN1):c.209G>T (p.Gly70Val)
|
|
|
NM_000138.5(FBN1):c.2102C>G (p.Ala701Gly)
|
|
|
NM_000138.5(FBN1):c.210A>T (p.Gly70=)
|
|
|
NM_000138.5(FBN1):c.2112A>C (p.Ser704=)
|
|
|
NM_000138.5(FBN1):c.2112A>T (p.Ser704=)
|
|
|
NM_000138.5(FBN1):c.2113+4T>C
|
rs2141315610
|
|
NM_000138.5(FBN1):c.2114-11A>C
|
|
|
NM_000138.5(FBN1):c.2114-5T>G
|
|
|
NM_000138.5(FBN1):c.2114C>T (p.Ala705Val)
|
rs1426292408
|
|
NM_000138.5(FBN1):c.2137A>G (p.Ser713Gly)
|
|
|
NM_000138.5(FBN1):c.2140G>A (p.Gly714Arg)
|
rs1566912644
|
|
NM_000138.5(FBN1):c.2140G>C (p.Gly714Arg)
|
rs1566912644
|
|
NM_000138.5(FBN1):c.2141G>A (p.Gly714Glu)
|
rs2141308882
|
|
NM_000138.5(FBN1):c.2144C>T (p.Pro715Leu)
|
|
|
NM_000138.5(FBN1):c.2164A>G (p.Ser722Gly)
|
|
|
NM_000138.5(FBN1):c.2165G>A (p.Ser722Asn)
|
|
|
NM_000138.5(FBN1):c.2166T>G (p.Ser722Arg)
|
|
|
NM_000138.5(FBN1):c.2167+2dup
|
rs2043632840
|
|
NM_000138.5(FBN1):c.2167+4A>G
|
rs2141308773
|
|
NM_000138.5(FBN1):c.2168-11T>A
|
|
|
NM_000138.5(FBN1):c.2168-11T>G
|
|
|
NM_000138.5(FBN1):c.2168-15T>G
|
|
|
NM_000138.5(FBN1):c.2168-9G>T
|
rs747772665
|
|
NM_000138.5(FBN1):c.2170A>G (p.Ile724Val)
|
|
|
NM_000138.5(FBN1):c.2171T>C (p.Ile724Thr)
|
rs878853677
|
|
NM_000138.5(FBN1):c.2191C>G (p.Pro731Ala)
|
|
|
NM_000138.5(FBN1):c.2206A>G (p.Asn736Asp)
|
rs878853678
|
|
NM_000138.5(FBN1):c.2207A>G (p.Asn736Ser)
|
rs1566912242
|
|
NM_000138.5(FBN1):c.2219A>C (p.Glu740Ala)
|
rs2043616665
|
|
NM_000138.5(FBN1):c.2219A>G (p.Glu740Gly)
|
rs2043616665
|
|
NM_000138.5(FBN1):c.223C>T (p.Pro75Ser)
|
rs886051252
|
|
NM_000138.5(FBN1):c.2245A>C (p.Ile749Leu)
|
|
|
NM_000138.5(FBN1):c.2245A>G (p.Ile749Val)
|
rs1555399370
|
|
NM_000138.5(FBN1):c.224C>G (p.Pro75Arg)
|
rs1555405654
|
|
NM_000138.5(FBN1):c.2254_2256del (p.Ser752del)
|
rs2043616319
|
|
NM_000138.5(FBN1):c.2258G>T (p.Gly753Val)
|
rs1555399365
|
|
NM_000138.5(FBN1):c.2263G>A (p.Glu755Lys)
|
|
|
NM_000138.5(FBN1):c.2275A>G (p.Thr759Ala)
|
rs2141306342
|
|
NM_000138.5(FBN1):c.2286C>G (p.Asn762Lys)
|
rs2043616066
|
|
NM_000138.5(FBN1):c.2291T>C (p.Val764Ala)
|
|
|
NM_000138.5(FBN1):c.2294-11T>A
|
|
|
NM_000138.5(FBN1):c.2294-3C>A
|
|
|
NM_000138.5(FBN1):c.2294-6_2294-5del
|
rs2043607725
|
|
NM_000138.5(FBN1):c.2296A>G (p.Ile766Val)
|
|
|
NM_000138.5(FBN1):c.229G>A (p.Gly77Arg)
|
rs794728290
|
|
NM_000138.5(FBN1):c.2302G>A (p.Glu768Lys)
|
|
|
NM_000138.5(FBN1):c.2303A>C (p.Glu768Ala)
|
rs794728189
|
|
NM_000138.5(FBN1):c.2311C>G (p.Leu771Val)
|
rs2043607479
|
|
NM_000138.5(FBN1):c.2315A>G (p.Asn772Ser)
|
rs2043607383
|
|
NM_000138.5(FBN1):c.2329G>C (p.Asp777His)
|
|
|
NM_000138.5(FBN1):c.2335G>A (p.Gly779Arg)
|
|
|
NM_000138.5(FBN1):c.2339A>C (p.Gln780Pro)
|
rs886039058
|
|
NM_000138.5(FBN1):c.2343T>C (p.Cys781=)
|
rs199647257
|
|
NM_000138.5(FBN1):c.2348_2359del (p.Asn783_Gly786del)
|
rs2043606899
|
|
NM_000138.5(FBN1):c.2349T>A (p.Asn783Lys)
|
rs1057522903
|
|
NM_000138.5(FBN1):c.2350A>T (p.Thr784Ser)
|
|
|
NM_000138.5(FBN1):c.2353_2355del (p.Pro785del)
|
rs1597569606
|
|
NM_000138.5(FBN1):c.2356G>A (p.Gly786Arg)
|
|
|
NM_000138.5(FBN1):c.2384G>A (p.Gly795Glu)
|
|
|
NM_000138.5(FBN1):c.2384G>T (p.Gly795Val)
|
rs1555399267
|
|
NM_000138.5(FBN1):c.2411C>T (p.Thr804Ile)
|
|
|
NM_000138.5(FBN1):c.2416G>A (p.Glu806Lys)
|
rs1555399258
|
|
NM_000138.5(FBN1):c.2418A>G (p.Glu806=)
|
rs794728191
|
|
NM_000138.5(FBN1):c.2419G>A (p.Asp807Asn)
|
rs1566911886
|
|
NM_000138.5(FBN1):c.2420-8T>A
|
rs140582
|
|
NM_000138.5(FBN1):c.2426A>G (p.Asp809Gly)
|
rs1555399211
|
|
NM_000138.5(FBN1):c.2441G>A (p.Ser814Asn)
|
rs2043600469
|
|
NM_000138.5(FBN1):c.244G>A (p.Val82Ile)
|
|
|
NM_000138.5(FBN1):c.2458G>T (p.Val820Phe)
|
|
|
NM_000138.5(FBN1):c.2459T>C (p.Val820Ala)
|
|
|
NM_000138.5(FBN1):c.246C>G (p.Val82=)
|
|
|
NM_000138.5(FBN1):c.247+4del
|
|
|
NM_000138.5(FBN1):c.247+5G>A
|
rs2044668542
|
|
NM_000138.5(FBN1):c.247+5G>C
|
|
|
NM_000138.5(FBN1):c.247+9A>G
|
rs1298547542
|
|
NM_000138.5(FBN1):c.2473C>T (p.Pro825Ser)
|
|
|
NM_000138.5(FBN1):c.2477G>A (p.Gly826Asp)
|
rs1555399200
|
|
NM_000138.5(FBN1):c.2479T>C (p.Ser827Pro)
|
rs193922189
|
|
NM_000138.5(FBN1):c.247C>T (p.Pro83Ser)
|
|
|
NM_000138.5(FBN1):c.248-151A>G
|
|
|
NM_000138.5(FBN1):c.248-4A>G
|
rs1597631751
|
|
NM_000138.5(FBN1):c.2480C>G (p.Ser827Cys)
|
rs375382957
|
|
NM_000138.5(FBN1):c.248C>T (p.Pro83Leu)
|
rs1206249804
|
|
NM_000138.5(FBN1):c.24G>C (p.Glu8Asp)
|
|
|
NM_000138.5(FBN1):c.2515G>A (p.Asp839Asn)
|
|
|
NM_000138.5(FBN1):c.2519C>A (p.Pro840Gln)
|
|
|
NM_000138.5(FBN1):c.2521A>T (p.Thr841Ser)
|
rs1381506466
|
|
NM_000138.5(FBN1):c.252T>C (p.Ile84=)
|
|
|
NM_000138.5(FBN1):c.2535C>T (p.Cys845=)
|
|
|
NM_000138.5(FBN1):c.2539+3A>G
|
|
|
NM_000138.5(FBN1):c.2539+5T>C
|
|
|
NM_000138.5(FBN1):c.2539+6T>G
|
rs2043598669
|
|
NM_000138.5(FBN1):c.2542A>C (p.Thr848Pro)
|
rs193922191
|
|
NM_000138.5(FBN1):c.2543C>A (p.Thr848Asn)
|
rs878853680
|
|
NM_000138.5(FBN1):c.2543C>T (p.Thr848Ile)
|
rs878853680
|
|
NM_000138.5(FBN1):c.2545A>G (p.Ile849Val)
|
rs2043596507
|
|
NM_000138.5(FBN1):c.2548A>C (p.Lys850Gln)
|
rs1481779864
|
|
NM_000138.5(FBN1):c.2551G>A (p.Gly851Ser)
|
rs2141303833
|
|
NM_000138.5(FBN1):c.2554A>G (p.Thr852Ala)
|
rs2141303822
|
|
NM_000138.5(FBN1):c.2559C>G (p.Cys853Trp)
|
rs111981744
|
|
NM_000138.5(FBN1):c.2560T>C (p.Trp854Arg)
|
rs2043596204
|
|
NM_000138.5(FBN1):c.2564A>G (p.Gln855Arg)
|
rs2043596063
|
|
NM_000138.5(FBN1):c.2567C>G (p.Thr856Ser)
|
|
|
NM_000138.5(FBN1):c.2567C>T (p.Thr856Ile)
|
|
|
NM_000138.5(FBN1):c.256C>T (p.Arg86Trp)
|
|
|
NM_000138.5(FBN1):c.2572A>G (p.Ile858Val)
|
|
|
NM_000138.5(FBN1):c.2579G>A (p.Gly860Glu)
|
|
|
NM_000138.5(FBN1):c.257G>A (p.Arg86Gln)
|
rs2044650738
|
|
NM_000138.5(FBN1):c.2581C>G (p.Arg861Gly)
|
|
|
NM_000138.5(FBN1):c.2590A>G (p.Ile864Val)
|
|
|
NM_000138.5(FBN1):c.2595C>A (p.Asn865Lys)
|
|
|
NM_000138.5(FBN1):c.2597T>A (p.Ile866Asn)
|
|
|
NM_000138.5(FBN1):c.2608A>G (p.Thr870Ala)
|
|
|
NM_000138.5(FBN1):c.260A>G (p.His87Arg)
|
rs1060501080
|
|
NM_000138.5(FBN1):c.2612T>C (p.Leu871Ser)
|
|
|
NM_000138.5(FBN1):c.2618C>T (p.Ser873Phe)
|
rs2043595271
|
|
NM_000138.5(FBN1):c.2621A>G (p.Gln874Arg)
|
rs2043595247
|
|
NM_000138.5(FBN1):c.2630C>T (p.Ser877Phe)
|
rs1555399153
|
|
NM_000138.5(FBN1):c.2638G>A (p.Gly880Ser)
|
rs794728194
|
|
NM_000138.5(FBN1):c.2641G>A (p.Ala881Thr)
|
rs781682561
|
|
NM_000138.5(FBN1):c.2657C>G (p.Pro886Arg)
|
|
|
NM_000138.5(FBN1):c.2657C>T (p.Pro886Leu)
|
rs1060501083
|
|
NM_000138.5(FBN1):c.2666T>C (p.Leu889Pro)
|
rs1393818056
|
|
NM_000138.5(FBN1):c.2677+3A>G
|
rs1060501071
|
|
NM_000138.5(FBN1):c.2677+5G>A
|
rs1085307946
|
|
NM_000138.5(FBN1):c.2677G>A (p.Asp893Asn)
|
rs193922193
|
|
NM_000138.5(FBN1):c.2677G>T (p.Asp893Tyr)
|
rs193922193
|
|
NM_000138.5(FBN1):c.2678-6T>G
|
rs1555399102
|
|
NM_000138.5(FBN1):c.2678A>G (p.Asp893Gly)
|
|
|
NM_000138.5(FBN1):c.2683A>T (p.Ile895Leu)
|
|
|
NM_000138.5(FBN1):c.2696G>C (p.Gly899Ala)
|
rs1555399094
|
|
NM_000138.5(FBN1):c.2702C>T (p.Ser901Leu)
|
|
|
NM_000138.5(FBN1):c.2704A>G (p.Arg902Gly)
|
|
|
NM_000138.5(FBN1):c.2714G>A (p.Gly905Glu)
|
rs1060501091
|
|
NM_000138.5(FBN1):c.2723G>T (p.Cys908Phe)
|
rs1057523406
|
|
NM_000138.5(FBN1):c.2727A>G (p.Glu909=)
|
|
|
NM_000138.5(FBN1):c.2729-8C>A
|
rs775257418
|
|
NM_000138.5(FBN1):c.2729A>T (p.Asp910Val)
|
rs1284769637
|
|
NM_000138.5(FBN1):c.2734G>C (p.Asp912His)
|
|
|
NM_000138.5(FBN1):c.2736_2738del (p.Asp912del)
|
rs1566910954
|
|
NM_000138.5(FBN1):c.2743G>A (p.Glu915Lys)
|
rs746834413
|
|
NM_000138.5(FBN1):c.2746G>C (p.Val916Leu)
|
rs373644734
|
|
NM_000138.5(FBN1):c.2752C>T (p.Pro918Ser)
|
rs1555398992
|
|
NM_000138.5(FBN1):c.2758G>A (p.Val920Met)
|
|
|
NM_000138.5(FBN1):c.2785A>G (p.Thr929Ala)
|
rs372203315
|
|
NM_000138.5(FBN1):c.2786C>G (p.Thr929Ser)
|
|
|
NM_000138.5(FBN1):c.2786C>T (p.Thr929Ile)
|
|
|
NM_000138.5(FBN1):c.2791G>A (p.Gly931Arg)
|
|
|
NM_000138.5(FBN1):c.2792G>C (p.Gly931Ala)
|
rs200078617
|
|
NM_000138.5(FBN1):c.2792G>T (p.Gly931Val)
|
rs200078617
|
|
NM_000138.5(FBN1):c.2795C>T (p.Ser932Leu)
|
|
|
NM_000138.5(FBN1):c.2801A>C (p.Lys934Thr)
|
rs1489199503
|
|
NM_000138.5(FBN1):c.2801A>G (p.Lys934Arg)
|
|
|
NM_000138.5(FBN1):c.2802G>T (p.Lys934Asn)
|
|
|
NM_000138.5(FBN1):c.2813C>T (p.Pro938Leu)
|
rs758257941
|
|
NM_000138.5(FBN1):c.2833G>C (p.Ala945Pro)
|
|
|
NM_000138.5(FBN1):c.2854+4A>G
|
|
|
NM_000138.5(FBN1):c.2855-8T>C
|
rs193922195
|
|
NM_000138.5(FBN1):c.2861G>T (p.Arg954Leu)
|
rs112911555
|
|
NM_000138.5(FBN1):c.2876T>C (p.Phe959Ser)
|
|
|
NM_000138.5(FBN1):c.2882G>A (p.Arg961Lys)
|
rs886039100
|
|
NM_000138.5(FBN1):c.2884T>C (p.Tyr962His)
|
|
|
NM_000138.5(FBN1):c.2887G>A (p.Glu963Lys)
|
rs745709588
|
|
NM_000138.5(FBN1):c.2893G>A (p.Glu965Lys)
|
rs748905831
|
|
NM_000138.5(FBN1):c.2903C>T (p.Thr968Ile)
|
rs781698952
|
|
NM_000138.5(FBN1):c.2909C>G (p.Pro970Arg)
|
|
|
NM_000138.5(FBN1):c.2923C>T (p.His975Tyr)
|
rs1597565510
|
|
NM_000138.5(FBN1):c.2927G>T (p.Arg976Leu)
|
|
|
NM_000138.5(FBN1):c.2929A>G (p.Met977Val)
|
rs776833421
|
|
NM_000138.5(FBN1):c.2930T>C (p.Met977Thr)
|
|
|
NM_000138.5(FBN1):c.2933A>G (p.Asp978Gly)
|
|
|
NM_000138.5(FBN1):c.2935G>T (p.Ala979Ser)
|
rs748915171
|
|
NM_000138.5(FBN1):c.293A>G (p.Asn98Ser)
|
|
|
NM_000138.5(FBN1):c.2948C>T (p.Ser983Phe)
|
rs2141297315
|
|
NM_000138.5(FBN1):c.2949C>A (p.Ser983=)
|
rs769307676
|
|
NM_000138.5(FBN1):c.2959G>C (p.Ala987Pro)
|
rs2141297282
|
|
NM_000138.5(FBN1):c.295A>G (p.Met99Val)
|
|
|
NM_000138.5(FBN1):c.2964_2965delinsTT (p.Trp988_Gly989delinsCysCys)
|
rs2141297274
|
|
NM_000138.5(FBN1):c.2965G>A (p.Gly989Ser)
|
|
|
NM_000138.5(FBN1):c.2966G>C (p.Gly989Ala)
|
|
|
NM_000138.5(FBN1):c.2976A>C (p.Glu992Asp)
|
|
|
NM_000138.5(FBN1):c.2983G>A (p.Glu995Lys)
|
|
|
NM_000138.5(FBN1):c.2992A>G (p.Met998Val)
|
rs750727783
|
|
NM_000138.5(FBN1):c.2993T>C (p.Met998Thr)
|
|
|
NM_000138.5(FBN1):c.2999A>T (p.Asn1000Ile)
|
rs2043543012
|
|
NM_000138.5(FBN1):c.3002C>A (p.Thr1001Asn)
|
|
|
NM_000138.5(FBN1):c.3016G>A (p.Glu1006Lys)
|
rs754040534
|
|
NM_000138.5(FBN1):c.301A>T (p.Thr101Ser)
|
|
|
NM_000138.5(FBN1):c.3020T>G (p.Leu1007Arg)
|
rs794728200
|
|
NM_000138.5(FBN1):c.3026C>T (p.Pro1009Leu)
|
rs148076256
|
|
NM_000138.5(FBN1):c.302C>T (p.Thr101Ile)
|
|
|
NM_000138.5(FBN1):c.3035C>A (p.Pro1012His)
|
rs113990281
|
|
NM_000138.5(FBN1):c.3035C>G (p.Pro1012Arg)
|
rs113990281
|
|
NM_000138.5(FBN1):c.3037G>A (p.Gly1013Arg)
|
rs140593
|
|
NM_000138.5(FBN1):c.3059C>A (p.Thr1020Lys)
|
|
|
NM_000138.5(FBN1):c.3064G>A (p.Gly1022Arg)
|
|
|
NM_000138.5(FBN1):c.3065G>A (p.Gly1022Glu)
|
rs1597565278
|
|
NM_000138.5(FBN1):c.3076T>C (p.Phe1026Leu)
|
|
|
NM_000138.5(FBN1):c.3079A>G (p.Lys1027Glu)
|
rs2141297017
|
|
NM_000138.5(FBN1):c.3081A>T (p.Lys1027Asn)
|
rs1555398771
|
|
NM_000138.5(FBN1):c.3082+5A>G
|
|
|
NM_000138.5(FBN1):c.3082+9T>G
|
rs746303949
|
|
NM_000138.5(FBN1):c.3083A>C (p.Asp1028Ala)
|
|
|
NM_000138.5(FBN1):c.3085A>G (p.Ile1029Val)
|
|
|
NM_000138.5(FBN1):c.3103A>G (p.Ile1035Val)
|
|
|
NM_000138.5(FBN1):c.3107C>T (p.Pro1036Leu)
|
|
|
NM_000138.5(FBN1):c.3122A>G (p.His1041Arg)
|
|
|
NM_000138.5(FBN1):c.3126C>T (p.Gly1042=)
|
rs1566909928
|
|
NM_000138.5(FBN1):c.3129G>T (p.Lys1043Asn)
|
rs749552425
|
|
NM_000138.5(FBN1):c.3136A>C (p.Asn1046His)
|
rs2141295243
|
|
NM_000138.5(FBN1):c.3137A>G (p.Asn1046Ser)
|
rs2141295239
|
|
NM_000138.5(FBN1):c.3149G>C (p.Ser1050Thr)
|
rs987202268
|
|
NM_000138.5(FBN1):c.3152T>C (p.Phe1051Ser)
|
rs1555398668
|
|
NM_000138.5(FBN1):c.3162G>C (p.Arg1054Ser)
|
rs746021219
|
|
NM_000138.5(FBN1):c.319A>G (p.Ile107Val)
|
|
|
NM_000138.5(FBN1):c.319A>T (p.Ile107Leu)
|
rs2140733930
|
|
NM_000138.5(FBN1):c.31C>G (p.Leu11Val)
|
|
|
NM_000138.5(FBN1):c.3205A>G (p.Thr1069Ala)
|
rs761632843
|
|
NM_000138.5(FBN1):c.3208+5G>A
|
rs1555398657
|
|
NM_000138.5(FBN1):c.3208+5G>C
|
rs1555398657
|
|
NM_000138.5(FBN1):c.3209-3del
|
rs2141294880
|
|
NM_000138.5(FBN1):c.3209-7T>A
|
rs1459153455
|
|
NM_000138.5(FBN1):c.3209-7del
|
rs2043526375
|
|
NM_000138.5(FBN1):c.3212T>G (p.Ile1071Ser)
|
rs1555398647
|
|
NM_000138.5(FBN1):c.3223C>A (p.Arg1075Ser)
|
|
|
NM_000138.5(FBN1):c.3224G>A (p.Arg1075His)
|
rs369745372
|
|
NM_000138.5(FBN1):c.3224G>C (p.Arg1075Pro)
|
rs369745372
|
|
NM_000138.5(FBN1):c.3227T>C (p.Ile1076Thr)
|
|
|
NM_000138.5(FBN1):c.3238C>T (p.Leu1080Phe)
|
|
|
NM_000138.5(FBN1):c.3239T>C (p.Leu1080Pro)
|
rs2043525655
|
|
NM_000138.5(FBN1):c.3239T>G (p.Leu1080Arg)
|
rs2043525655
|
|
NM_000138.5(FBN1):c.3254A>G (p.Gln1085Arg)
|
rs1031572615
|
|
NM_000138.5(FBN1):c.3259G>A (p.Val1087Met)
|
|
|
NM_000138.5(FBN1):c.3263A>G (p.Asn1088Ser)
|
rs1555398635
|
|
NM_000138.5(FBN1):c.3264C>A (p.Asn1088Lys)
|
rs2043525387
|
|
NM_000138.5(FBN1):c.3265A>G (p.Thr1089Ala)
|
|
|
NM_000138.5(FBN1):c.3274G>A (p.Asp1092Asn)
|
|
|
NM_000138.5(FBN1):c.3287A>G (p.Lys1096Arg)
|
|
|
NM_000138.5(FBN1):c.32T>A (p.Leu11Gln)
|
rs1555407429
|
|
NM_000138.5(FBN1):c.32T>G (p.Leu11Arg)
|
rs1555407429
|
|
NM_000138.5(FBN1):c.3315C>G (p.Phe1105Leu)
|
|
|
NM_000138.5(FBN1):c.3319A>G (p.Met1107Val)
|
|
|
NM_000138.5(FBN1):c.3321G>A (p.Met1107Ile)
|
|
|
NM_000138.5(FBN1):c.3370T>C (p.Cys1124Arg)
|
rs2141293730
|
|
NM_000138.5(FBN1):c.3382G>C (p.Val1128Leu)
|
rs1555398573
|
|
NM_000138.5(FBN1):c.338C>G (p.Ser113Cys)
|
rs869025403
|
|
NM_000138.5(FBN1):c.3394A>G (p.Thr1132Ala)
|
|
|
NM_000138.5(FBN1):c.3425C>G (p.Pro1142Arg)
|
rs2043517357
|
|
NM_000138.5(FBN1):c.3428G>A (p.Gly1143Asp)
|
rs1163486953
|
|
NM_000138.5(FBN1):c.3431A>G (p.His1144Arg)
|
|
|
NM_000138.5(FBN1):c.3450C>G (p.Ile1150Met)
|
|
|
NM_000138.5(FBN1):c.3460A>G (p.Ile1154Val)
|
|
|
NM_000138.5(FBN1):c.3460A>T (p.Ile1154Phe)
|
rs1043235195
|
|
NM_000138.5(FBN1):c.3462C>A (p.Ile1154=)
|
|
|
NM_000138.5(FBN1):c.3464-11T>G
|
|
|
NM_000138.5(FBN1):c.3464-16_3464-14del
|
rs775944757
|
|
NM_000138.5(FBN1):c.3476G>A (p.Cys1159Tyr)
|
rs1555398524
|
|
NM_000138.5(FBN1):c.3494T>C (p.Leu1165Pro)
|
|
|
NM_000138.5(FBN1):c.3500C>A (p.Pro1167His)
|
|
|
NM_000138.5(FBN1):c.3503A>T (p.Asn1168Ile)
|
|
|
NM_000138.5(FBN1):c.3506G>A (p.Gly1169Asp)
|
rs794728330
|
|
NM_000138.5(FBN1):c.3508C>T (p.Arg1170Cys)
|
rs1366894709
|
|
NM_000138.5(FBN1):c.3521T>C (p.Leu1174Pro)
|
rs1555398517
|
|
NM_000138.5(FBN1):c.3525A>G (p.Ile1175Met)
|
|
|
NM_000138.5(FBN1):c.3542C>T (p.Ala1181Val)
|
|
|
NM_000138.5(FBN1):c.3554G>A (p.Gly1185Asp)
|
rs1555398512
|
|
NM_000138.5(FBN1):c.3557A>G (p.Tyr1186Cys)
|
rs1555398511
|
|
NM_000138.5(FBN1):c.3568C>A (p.Pro1190Thr)
|
|
|
NM_000138.5(FBN1):c.3569C>A (p.Pro1190His)
|
|
|
NM_000138.5(FBN1):c.3569C>G (p.Pro1190Arg)
|
|
|
NM_000138.5(FBN1):c.3569_3570delinsAA (p.Pro1190Gln)
|
rs2043514115
|
|
NM_000138.5(FBN1):c.3570C>A (p.Pro1190=)
|
|
|
NM_000138.5(FBN1):c.3572A>G (p.Asp1191Gly)
|
|
|
NM_000138.5(FBN1):c.3574A>G (p.Arg1192Gly)
|
rs2043513994
|
|
NM_000138.5(FBN1):c.3578T>C (p.Leu1193Pro)
|
rs2141293110
|
|
NM_000138.5(FBN1):c.3586G>A (p.Val1196Ile)
|
rs1352765609
|
|
NM_000138.5(FBN1):c.3589+11TTTTA[7]
|
rs72158035
|
|
NM_000138.5(FBN1):c.3589+11TTTTA[8]
|
rs72158035
|
|
NM_000138.5(FBN1):c.3589+3A>G
|
rs2043513649
|
|
NM_000138.5(FBN1):c.3589G>A (p.Asp1197Asn)
|
rs397515793
|
|
NM_000138.5(FBN1):c.3590-7C>A
|
|
|
NM_000138.5(FBN1):c.3590A>T (p.Asp1197Val)
|
rs112025387
|
|
NM_000138.5(FBN1):c.359A>T (p.Asn120Ile)
|
rs753900024
|
|
NM_000138.5(FBN1):c.3605_3606delinsTT (p.Ser1202Ile)
|
rs2043498514
|
|
NM_000138.5(FBN1):c.3609A>G (p.Ile1203Met)
|
|
|
NM_000138.5(FBN1):c.3614A>G (p.Asn1205Ser)
|
rs794728207
|
|
NM_000138.5(FBN1):c.361A>G (p.Ile121Val)
|
|
|
NM_000138.5(FBN1):c.3625_3627dup (p.Glu1209_Thr1210insGlu)
|
|
|
NM_000138.5(FBN1):c.3626A>T (p.Glu1209Val)
|
rs1597561500
|
|
NM_000138.5(FBN1):c.3632T>C (p.Phe1211Ser)
|
|
|
NM_000138.5(FBN1):c.3643T>C (p.Ser1215Pro)
|
|
|
NM_000138.5(FBN1):c.3644C>T (p.Ser1215Phe)
|
|
|
NM_000138.5(FBN1):c.3650G>A (p.Gly1217Asp)
|
rs1555398397
|
|
NM_000138.5(FBN1):c.3654C>G (p.Ser1218Arg)
|
rs760712674
|
|
NM_000138.5(FBN1):c.3656A>C (p.Tyr1219Ser)
|
|
|
NM_000138.5(FBN1):c.3671A>G (p.Gln1224Arg)
|
rs2141291295
|
|
NM_000138.5(FBN1):c.3681T>G (p.Phe1227Leu)
|
rs2043497341
|
|
NM_000138.5(FBN1):c.3690G>A (p.Met1230Ile)
|
|
|
NM_000138.5(FBN1):c.3694G>A (p.Asp1232Asn)
|
|
|
NM_000138.5(FBN1):c.3702A>T (p.Arg1234Ser)
|
|
|
NM_000138.5(FBN1):c.3709A>G (p.Thr1237Ala)
|
rs1459223225
|
|
NM_000138.5(FBN1):c.3712G>C (p.Asp1238His)
|
rs794728208
|
|
NM_000138.5(FBN1):c.371T>C (p.Met124Thr)
|
|
|
NM_000138.5(FBN1):c.372G>A (p.Met124Ile)
|
rs1555405050
|
|
NM_000138.5(FBN1):c.3740A>G (p.Asn1247Ser)
|
|
|
NM_000138.5(FBN1):c.3748G>T (p.Asp1250Tyr)
|
rs1555398288
|
|
NM_000138.5(FBN1):c.3758A>C (p.Gln1253Pro)
|
|
|
NM_000138.5(FBN1):c.3759G>C (p.Gln1253His)
|
rs2141289701
|
|
NM_000138.5(FBN1):c.3766A>G (p.Asn1256Asp)
|
rs772890884
|
|
NM_000138.5(FBN1):c.3772C>T (p.Pro1258Ser)
|
rs397515795
|
|
NM_000138.5(FBN1):c.3773C>T (p.Pro1258Leu)
|
|
|
NM_000138.5(FBN1):c.3786G>T (p.Arg1262Ser)
|
rs1555398280
|
|
NM_000138.5(FBN1):c.379G>T (p.Gly127Cys)
|
|
|
NM_000138.5(FBN1):c.3808A>T (p.Met1270Leu)
|
|
|
NM_000138.5(FBN1):c.380G>T (p.Gly127Val)
|
|
|
NM_000138.5(FBN1):c.3815C>A (p.Ser1272Tyr)
|
rs1555398270
|
|
NM_000138.5(FBN1):c.3823A>G (p.Met1275Val)
|
rs747414686
|
|
NM_000138.5(FBN1):c.3824T>C (p.Met1275Thr)
|
|
|
NM_000138.5(FBN1):c.382A>C (p.Ser128Arg)
|
|
|
NM_000138.5(FBN1):c.3838+3A>T
|
rs1555398265
|
|
NM_000138.5(FBN1):c.3839-15A>C
|
|
|
NM_000138.5(FBN1):c.3848A>C (p.Glu1283Ala)
|
rs397515796
|
|
NM_000138.5(FBN1):c.3848A>T (p.Glu1283Val)
|
rs397515796
|
|
NM_000138.5(FBN1):c.3853G>A (p.Asp1285Asn)
|
rs1555398171
|
|
NM_000138.5(FBN1):c.3853G>C (p.Asp1285His)
|
|
|
NM_000138.5(FBN1):c.3869T>C (p.Ile1290Thr)
|
rs2043467019
|
|
NM_000138.5(FBN1):c.3875T>C (p.Leu1292Pro)
|
rs2141287453
|
|
NM_000138.5(FBN1):c.3878G>A (p.Ser1293Asn)
|
|
|
NM_000138.5(FBN1):c.3881G>T (p.Gly1294Val)
|
rs1060501064
|
|
NM_000138.5(FBN1):c.38T>G (p.Phe13Cys)
|
rs773614956
|
|
NM_000138.5(FBN1):c.3903C>T (p.Gly1301=)
|
rs1018707026
|
|
NM_000138.5(FBN1):c.3904T>C (p.Ser1302Pro)
|
rs2141287376
|
|
NM_000138.5(FBN1):c.3905C>T (p.Ser1302Leu)
|
|
|
NM_000138.5(FBN1):c.3938G>C (p.Gly1313Ala)
|
|
|
NM_000138.5(FBN1):c.3941A>G (p.Lys1314Arg)
|
|
|
NM_000138.5(FBN1):c.3944A>G (p.Lys1315Arg)
|
|
|
NM_000138.5(FBN1):c.394G>A (p.Asp132Asn)
|
|
|
NM_000138.5(FBN1):c.3950A>G (p.Lys1317Arg)
|
|
|
NM_000138.5(FBN1):c.3956G>C (p.Gly1319Ala)
|
|
|
NM_000138.5(FBN1):c.3962C>T (p.Thr1321Ile)
|
rs750219182
|
|
NM_000138.5(FBN1):c.3963A>T (p.Thr1321=)
|
|
|
NM_000138.5(FBN1):c.3964+5G>T
|
rs2043465883
|
|
NM_000138.5(FBN1):c.3964G>T (p.Asp1322Tyr)
|
|
|
NM_000138.5(FBN1):c.3965-5T>A
|
|
|
NM_000138.5(FBN1):c.3966C>G (p.Asp1322Glu)
|
|
|
NM_000138.5(FBN1):c.3971A>C (p.Asn1324Thr)
|
|
|
NM_000138.5(FBN1):c.3974A>C (p.Glu1325Ala)
|
rs794728331
|
|
NM_000138.5(FBN1):c.3981A>C (p.Glu1327Asp)
|
|
|
NM_000138.5(FBN1):c.3988G>C (p.Ala1330Pro)
|
|
|
NM_000138.5(FBN1):c.3989C>T (p.Ala1330Val)
|
|
|
NM_000138.5(FBN1):c.4009G>C (p.Ala1337Pro)
|
rs753648789
|
|
NM_000138.5(FBN1):c.4033A>C (p.Ser1345Arg)
|
|
|
NM_000138.5(FBN1):c.4034G>T (p.Ser1345Ile)
|
rs767079851
|
|
NM_000138.5(FBN1):c.4057G>C (p.Gly1353Arg)
|
rs187177496
|
|
NM_000138.5(FBN1):c.4057G>T (p.Gly1353Trp)
|
rs187177496
|
|
NM_000138.5(FBN1):c.4066G>A (p.Gly1356Arg)
|
rs867460746
|
|
NM_000138.5(FBN1):c.4088A>T (p.Asp1363Val)
|
rs2043402890
|
|
NM_000138.5(FBN1):c.4094A>G (p.Asp1365Gly)
|
rs794728217
|
|
NM_000138.5(FBN1):c.4107T>A (p.Asn1369Lys)
|
|
|
NM_000138.5(FBN1):c.4111A>G (p.Thr1371Ala)
|
|
|
NM_000138.5(FBN1):c.4114C>T (p.His1372Tyr)
|
|
|
NM_000138.5(FBN1):c.4125C>G (p.Ser1375Arg)
|
rs1555397666
|
|
NM_000138.5(FBN1):c.4127A>G (p.Gln1376Arg)
|
rs1597553861
|
|
NM_000138.5(FBN1):c.4130A>T (p.His1377Leu)
|
rs1238143005
|
|
NM_000138.5(FBN1):c.4143G>C (p.Lys1381Asn)
|
rs2043402274
|
|
NM_000138.5(FBN1):c.4144A>T (p.Asn1382Tyr)
|
|
|
NM_000138.5(FBN1):c.4151T>C (p.Met1384Thr)
|
rs1555397658
|
|
NM_000138.5(FBN1):c.4152G>A (p.Met1384Ile)
|
rs1488326228
|
|
NM_000138.5(FBN1):c.4159T>G (p.Tyr1387Asp)
|
rs1555397656
|
|
NM_000138.5(FBN1):c.415G>C (p.Gly139Arg)
|
rs397515800
|
|
NM_000138.5(FBN1):c.4162C>A (p.Arg1388Ser)
|
rs770860280
|
|
NM_000138.5(FBN1):c.4163G>T (p.Arg1388Leu)
|
rs749196340
|
|
NM_000138.5(FBN1):c.4174A>G (p.Lys1392Glu)
|
rs756683929
|
|
NM_000138.5(FBN1):c.4183T>C (p.Tyr1395His)
|
rs1555397653
|
|
NM_000138.5(FBN1):c.4187C>T (p.Thr1396Ile)
|
rs2043401571
|
|
NM_000138.5(FBN1):c.4189G>A (p.Gly1397Ser)
|
|
|
NM_000138.5(FBN1):c.4190G>C (p.Gly1397Ala)
|
|
|
NM_000138.5(FBN1):c.4190G>T (p.Gly1397Val)
|
rs747867726
|
|
NM_000138.5(FBN1):c.4193A>G (p.Asp1398Gly)
|
rs781045902
|
|
NM_000138.5(FBN1):c.4196G>A (p.Gly1399Asp)
|
|
|
NM_000138.5(FBN1):c.4208C>T (p.Thr1403Ile)
|
|
|
NM_000138.5(FBN1):c.4210+11G>A
|
rs148057138
|
|
NM_000138.5(FBN1):c.4210+3A>G
|
rs1457293645
|
|
NM_000138.5(FBN1):c.4210+3A>T
|
|
|
NM_000138.5(FBN1):c.4210G>C (p.Asp1404His)
|
rs794728220
|
|
NM_000138.5(FBN1):c.4213C>A (p.Leu1405Ile)
|
|
|
NM_000138.5(FBN1):c.4235T>A (p.Leu1412Gln)
|
|
|
NM_000138.5(FBN1):c.424G>A (p.Gly142Arg)
|
|
|
NM_000138.5(FBN1):c.4257G>T (p.Gln1419His)
|
|
|
NM_000138.5(FBN1):c.425G>A (p.Gly142Glu)
|
rs1555405036
|
|
NM_000138.5(FBN1):c.4262T>C (p.Leu1421Pro)
|
rs2043386032
|
|
NM_000138.5(FBN1):c.4265A>G (p.Asn1422Ser)
|
rs1057517910
|
|
NM_000138.5(FBN1):c.4276G>A (p.Gly1426Arg)
|
rs1597552464
|
|
NM_000138.5(FBN1):c.4277G>C (p.Gly1426Ala)
|
rs531751210
|
|
NM_000138.5(FBN1):c.4282C>G (p.Arg1428Gly)
|
rs1258352189
|
|
NM_000138.5(FBN1):c.4297A>T (p.Met1433Leu)
|
|
|
NM_000138.5(FBN1):c.4300G>T (p.Gly1434Cys)
|
|
|
NM_000138.5(FBN1):c.4305C>T (p.Phe1435=)
|
rs1243628683
|
|
NM_000138.5(FBN1):c.4306G>T (p.Val1436Leu)
|
rs377338217
|
|
NM_000138.5(FBN1):c.430C>T (p.His144Tyr)
|
|
|
NM_000138.5(FBN1):c.4321G>T (p.Gly1441Trp)
|
|
|
NM_000138.5(FBN1):c.4327G>A (p.Ala1443Thr)
|
|
|
NM_000138.5(FBN1):c.432C>A (p.His144Gln)
|
|
|
NM_000138.5(FBN1):c.432C>G (p.His144Gln)
|
|
|
NM_000138.5(FBN1):c.4330T>A (p.Cys1444Ser)
|
rs869025406
|
|
NM_000138.5(FBN1):c.4337-5C>A
|
rs370959127
|
|
NM_000138.5(FBN1):c.4337A>G (p.Asp1446Gly)
|
rs397515806
|
|
NM_000138.5(FBN1):c.4337A>T (p.Asp1446Val)
|
rs397515806
|
|
NM_000138.5(FBN1):c.4347G>T (p.Glu1449Asp)
|
rs1555397423
|
|
NM_000138.5(FBN1):c.4358C>A (p.Pro1453Gln)
|
|
|
NM_000138.5(FBN1):c.4358C>G (p.Pro1453Arg)
|
|
|
NM_000138.5(FBN1):c.4364T>G (p.Ile1455Ser)
|
rs397515807
|
|
NM_000138.5(FBN1):c.437G>A (p.Gly146Glu)
|
|
|
NM_000138.5(FBN1):c.4389C>A (p.Asn1463Lys)
|
rs1555397412
|
|
NM_000138.5(FBN1):c.43G>A (p.Val15Met)
|
rs1890262474
|
|
NM_000138.5(FBN1):c.43G>C (p.Val15Leu)
|
|
|
NM_000138.5(FBN1):c.4404C>G (p.Phe1468Leu)
|
rs780479561
|
|
NM_000138.5(FBN1):c.4406G>T (p.Arg1469Leu)
|
rs397515808
|
|
NM_000138.5(FBN1):c.440A>G (p.Gln147Arg)
|
rs747815650
|
|
NM_000138.5(FBN1):c.442+4A>C
|
rs768207411
|
|
NM_000138.5(FBN1):c.442+4A>T
|
|
|
NM_000138.5(FBN1):c.4421T>C (p.Ile1474Thr)
|
|
|
NM_000138.5(FBN1):c.4429G>A (p.Glu1477Lys)
|
rs869025407
|
|
NM_000138.5(FBN1):c.443-15C>A
|
rs2044516377
|
|
NM_000138.5(FBN1):c.4437C>G (p.Asp1479Glu)
|
rs370161725
|
|
NM_000138.5(FBN1):c.4439G>C (p.Arg1480Thr)
|
|
|
NM_000138.5(FBN1):c.4442G>A (p.Ser1481Asn)
|
|
|
NM_000138.5(FBN1):c.4447G>A (p.Gly1483Arg)
|
rs794728223
|
|
NM_000138.5(FBN1):c.4458A>C (p.Thr1486=)
|
|
|
NM_000138.5(FBN1):c.4459+3A>C
|
|
|
NM_000138.5(FBN1):c.4459+3A>T
|
rs397515809
|
|
NM_000138.5(FBN1):c.4460A>C (p.Asp1487Ala)
|
rs1555397216
|
|
NM_000138.5(FBN1):c.4462G>T (p.Val1488Leu)
|
rs1566904712
|
|
NM_000138.5(FBN1):c.4466A>G (p.Asn1489Ser)
|
rs1057518501
|
|
NM_000138.5(FBN1):c.4467T>A (p.Asn1489Lys)
|
rs193922205
|
|
NM_000138.5(FBN1):c.4468G>A (p.Glu1490Lys)
|
rs1060501076
|
|
NM_000138.5(FBN1):c.4469A>G (p.Glu1490Gly)
|
rs2043341806
|
|
NM_000138.5(FBN1):c.4484C>T (p.Thr1495Ile)
|
|
|
NM_000138.5(FBN1):c.4487C>T (p.Thr1496Met)
|
rs776199613
|
|
NM_000138.5(FBN1):c.44T>G (p.Val15Gly)
|
rs2140787791
|
|
NM_000138.5(FBN1):c.4511A>G (p.Asn1504Ser)
|
rs1555397209
|
|
NM_000138.5(FBN1):c.4516C>G (p.Pro1506Ala)
|
rs794728224
|
|
NM_000138.5(FBN1):c.4521C>T (p.Gly1507=)
|
rs1425634624
|
|
NM_000138.5(FBN1):c.4523G>T (p.Ser1508Ile)
|
rs1555397207
|
|
NM_000138.5(FBN1):c.4543C>T (p.Pro1515Ser)
|
rs1219583611
|
|
NM_000138.5(FBN1):c.4548T>G (p.Asp1516Glu)
|
rs2043340843
|
|
NM_000138.5(FBN1):c.455G>A (p.Ser152Asn)
|
rs1288527435
|
|
NM_000138.5(FBN1):c.4565C>T (p.Thr1522Ile)
|
|
|
NM_000138.5(FBN1):c.4570G>A (p.Val1524Ile)
|
rs2043340600
|
|
NM_000138.5(FBN1):c.4574G>A (p.Gly1525Asp)
|
rs1597549030
|
|
NM_000138.5(FBN1):c.4577G>T (p.Cys1526Phe)
|
|
|
NM_000138.5(FBN1):c.457G>A (p.Gly153Ser)
|
rs995711019
|
|
NM_000138.5(FBN1):c.4582+3A>T
|
rs777845323
|
|
NM_000138.5(FBN1):c.4582+4del
|
rs2141272841
|
|
NM_000138.5(FBN1):c.4582+5G>C
|
rs140633
|
|
NM_000138.5(FBN1):c.4582G>A (p.Asp1528Asn)
|
|
|
NM_000138.5(FBN1):c.4583-10T>A
|
rs1379865323
|
|
NM_000138.5(FBN1):c.4583-12T>G
|
|
|
NM_000138.5(FBN1):c.4583-4A>G
|
|
|
NM_000138.5(FBN1):c.4585A>G (p.Thr1529Ala)
|
|
|
NM_000138.5(FBN1):c.458G>C (p.Gly153Ala)
|
|
|
NM_000138.5(FBN1):c.4591T>C (p.Ser1531Pro)
|
|
|
NM_000138.5(FBN1):c.4607T>G (p.Leu1536Trp)
|
rs2043337989
|
|
NM_000138.5(FBN1):c.4609G>T (p.Asp1537Tyr)
|
rs757316301
|
|
NM_000138.5(FBN1):c.4612A>G (p.Ile1538Val)
|
rs2043337939
|
|
NM_000138.5(FBN1):c.4619C>G (p.Pro1540Arg)
|
rs2043337860
|
|
NM_000138.5(FBN1):c.4635A>T (p.Gly1545=)
|
rs1555397167
|
|
NM_000138.5(FBN1):c.4640C>G (p.Thr1547Arg)
|
rs183306990
|
|
NM_000138.5(FBN1):c.4648A>T (p.Ser1550Cys)
|
rs794728229
|
|
NM_000138.5(FBN1):c.4652A>T (p.Asn1551Ile)
|
|
|
NM_000138.5(FBN1):c.4661G>A (p.Gly1554Glu)
|
|
|
NM_000138.5(FBN1):c.4663G>C (p.Val1555Leu)
|
rs760055928
|
|
NM_000138.5(FBN1):c.4664T>C (p.Val1555Ala)
|
|
|
NM_000138.5(FBN1):c.4678G>A (p.Ala1560Thr)
|
rs142858432
|
|
NM_000138.5(FBN1):c.4678G>C (p.Ala1560Pro)
|
|
|
NM_000138.5(FBN1):c.4679C>T (p.Ala1560Val)
|
|
|
NM_000138.5(FBN1):c.4694C>T (p.Ser1565Phe)
|
rs1555397156
|
|
NM_000138.5(FBN1):c.4712G>A (p.Gly1571Asp)
|
rs2141272302
|
|
NM_000138.5(FBN1):c.4714A>G (p.Thr1572Ala)
|
rs1597548645
|
|
NM_000138.5(FBN1):c.4728G>A (p.Met1576Ile)
|
rs2141272271
|
|
NM_000138.5(FBN1):c.4742A>G (p.Asn1581Ser)
|
|
|
NM_000138.5(FBN1):c.4744A>G (p.Thr1582Ala)
|
|
|
NM_000138.5(FBN1):c.4744A>T (p.Thr1582Ser)
|
|
|
NM_000138.5(FBN1):c.4745C>T (p.Thr1582Ile)
|
|
|
NM_000138.5(FBN1):c.4747+4A>G
|
rs1430326088
|
|
NM_000138.5(FBN1):c.4747+5G>C
|
rs193922209
|
|
NM_000138.5(FBN1):c.4748-2dup
|
rs2043316552
|
|
NM_000138.5(FBN1):c.4748-3T>G
|
rs770762644
|
|
NM_000138.5(FBN1):c.4748-4A>G
|
|
|
NM_000138.5(FBN1):c.4748C>A (p.Ser1583Tyr)
|
|
|
NM_000138.5(FBN1):c.474_476del (p.Arg159del)
|
rs2140711718
|
|
NM_000138.5(FBN1):c.4775G>A (p.Gly1592Glu)
|
rs1555397019
|
|
NM_000138.5(FBN1):c.4778A>G (p.Glu1593Gly)
|
|
|
NM_000138.5(FBN1):c.477G>T (p.Arg159Ser)
|
rs1456579664
|
|
NM_000138.5(FBN1):c.4787G>A (p.Arg1596Gln)
|
rs769588424
|
|
NM_000138.5(FBN1):c.4787G>C (p.Arg1596Pro)
|
rs769588424
|
|
NM_000138.5(FBN1):c.4795C>A (p.Pro1599Thr)
|
rs1555397018
|
|
NM_000138.5(FBN1):c.4799T>G (p.Ile1600Ser)
|
|
|
NM_000138.5(FBN1):c.47T>A (p.Leu16His)
|
rs1555407424
|
|
NM_000138.5(FBN1):c.4802C>G (p.Thr1601Ser)
|
|
|
NM_000138.5(FBN1):c.4816+4A>G
|
rs2141269898
|
|
NM_000138.5(FBN1):c.4816G>A (p.Asp1606Asn)
|
rs2043315819
|
|
NM_000138.5(FBN1):c.4817-14T>G
|
|
|
NM_000138.5(FBN1):c.4817-22_4817-14delinsAGCC
|
|
|
NM_000138.5(FBN1):c.4817-3_4818dup
|
rs2141269780
|
|
NM_000138.5(FBN1):c.4822G>A (p.Asp1608Asn)
|
|
|
NM_000138.5(FBN1):c.4823A>T (p.Asp1608Val)
|
|
|
NM_000138.5(FBN1):c.482T>C (p.Val161Ala)
|
|
|
NM_000138.5(FBN1):c.4847T>A (p.Leu1616Gln)
|
|
|
NM_000138.5(FBN1):c.4853A>G (p.Gln1618Arg)
|
rs2043314733
|
|
NM_000138.5(FBN1):c.4886T>A (p.Phe1629Tyr)
|
|
|
NM_000138.5(FBN1):c.4904C>A (p.Thr1635Asn)
|
rs1460284193
|
|
NM_000138.5(FBN1):c.4915C>G (p.Leu1639Val)
|
|
|
NM_000138.5(FBN1):c.4932A>G (p.Arg1644=)
|
rs2043313777
|
|
NM_000138.5(FBN1):c.4935G>A (p.Val1645=)
|
rs886038897
|
|
NM_000138.5(FBN1):c.4940A>G (p.Asp1647Gly)
|
|
|
NM_000138.5(FBN1):c.4942+14G>A
|
|
|
NM_000138.5(FBN1):c.4942+15T>C
|
|
|
NM_000138.5(FBN1):c.4942+4A>G
|
rs397515815
|
|
NM_000138.5(FBN1):c.4942G>C (p.Asp1648His)
|
rs397515816
|
|
NM_000138.5(FBN1):c.4943-15C>A
|
|
|
NM_000138.5(FBN1):c.4943A>G (p.Asp1648Gly)
|
|
|
NM_000138.5(FBN1):c.494G>C (p.Arg165Pro)
|
rs1060501079
|
|
NM_000138.5(FBN1):c.4951G>A (p.Glu1651Lys)
|
rs886039152
|
|
NM_000138.5(FBN1):c.4984A>T (p.Thr1662Ser)
|
rs1471557498
|
|
NM_000138.5(FBN1):c.4999G>C (p.Val1667Leu)
|
|
|
NM_000138.5(FBN1):c.5000T>C (p.Val1667Ala)
|
|
|
NM_000138.5(FBN1):c.5011A>C (p.Thr1671Pro)
|
|
|
NM_000138.5(FBN1):c.5018T>C (p.Ile1673Thr)
|
rs2043300504
|
|
NM_000138.5(FBN1):c.5030A>G (p.Asp1677Gly)
|
|
|
NM_000138.5(FBN1):c.5031C>T (p.Asp1677=)
|
rs1597545860
|
|
NM_000138.5(FBN1):c.5035A>C (p.Met1679Leu)
|
|
|
NM_000138.5(FBN1):c.5035A>G (p.Met1679Val)
|
rs759114752
|
|
NM_000138.5(FBN1):c.5041G>A (p.Val1681Met)
|
|
|
NM_000138.5(FBN1):c.5042T>C (p.Val1681Ala)
|
|
|
NM_000138.5(FBN1):c.5051G>A (p.Gly1684Glu)
|
|
|
NM_000138.5(FBN1):c.5065+2dup
|
rs1555396835
|
|
NM_000138.5(FBN1):c.5066-3T>C
|
rs2141266776
|
|
NM_000138.5(FBN1):c.5073AAG[1] (p.Arg1692del)
|
rs1555396789
|
|
NM_000138.5(FBN1):c.5087A>G (p.Tyr1696Cys)
|
rs387906625
|
|
NM_000138.5(FBN1):c.5093A>G (p.Asn1698Ser)
|
rs2043293815
|
|
NM_000138.5(FBN1):c.50T>C (p.Leu17Ser)
|
rs794728201
|
|
NM_000138.5(FBN1):c.5101_5102delinsTT (p.Ala1701Phe)
|
|
|
NM_000138.5(FBN1):c.5102C>T (p.Ala1701Val)
|
|
|
NM_000138.5(FBN1):c.511G>A (p.Gly171Arg)
|
rs1566934693
|
|
NM_000138.5(FBN1):c.5129T>C (p.Leu1710Ser)
|
|
|
NM_000138.5(FBN1):c.5144C>T (p.Thr1715Ile)
|
|
|
NM_000138.5(FBN1):c.5147AGA[1] (p.Lys1717del)
|
rs2043292746
|
|
NM_000138.5(FBN1):c.5179C>T (p.Arg1727Trp)
|
|
|
NM_000138.5(FBN1):c.5189A>G (p.Asn1730Ser)
|
|
|
NM_000138.5(FBN1):c.5200G>A (p.Glu1734Lys)
|
|
|
NM_000138.5(FBN1):c.520G>A (p.Gly174Arg)
|
|
|
NM_000138.5(FBN1):c.5210C>T (p.Pro1737Leu)
|
rs2141266510
|
|
NM_000138.5(FBN1):c.5215C>T (p.Pro1739Ser)
|
|
|
NM_000138.5(FBN1):c.5224+5G>T
|
|
|
NM_000138.5(FBN1):c.5225-10A>T
|
|
|
NM_000138.5(FBN1):c.5225-3C>A
|
rs876657810
|
|
NM_000138.5(FBN1):c.5233G>A (p.Ala1745Thr)
|
|
|
NM_000138.5(FBN1):c.5234C>T (p.Ala1745Val)
|
rs2043271430
|
|
NM_000138.5(FBN1):c.5239C>A (p.Leu1747Ile)
|
|
|
NM_000138.5(FBN1):c.524C>G (p.Pro175Arg)
|
|
|
NM_000138.5(FBN1):c.5258_5260dup (p.Pro1753_Gly1754insAla)
|
|
|
NM_000138.5(FBN1):c.5270T>C (p.Ile1757Thr)
|
rs2141264003
|
|
NM_000138.5(FBN1):c.5271C>A (p.Ile1757=)
|
|
|
NM_000138.5(FBN1):c.5277T>G (p.Ile1759Met)
|
|
|
NM_000138.5(FBN1):c.5279A>G (p.Tyr1760Cys)
|
rs1597543452
|
|
NM_000138.5(FBN1):c.5290C>T (p.Pro1764Ser)
|
|
|
NM_000138.5(FBN1):c.5291C>A (p.Pro1764His)
|
rs2043270903
|
|
NM_000138.5(FBN1):c.5293G>T (p.Val1765Phe)
|
|
|
NM_000138.5(FBN1):c.5296+3G>C
|
|
|
NM_000138.5(FBN1):c.5296+6T>C
|
rs1555396629
|
|
NM_000138.5(FBN1):c.5296G>C (p.Asp1766His)
|
rs1555396631
|
|
NM_000138.5(FBN1):c.5297-8del
|
|
|
NM_000138.5(FBN1):c.52G>C (p.Ala18Pro)
|
rs1890262148
|
|
NM_000138.5(FBN1):c.5300T>C (p.Ile1767Thr)
|
|
|
NM_000138.5(FBN1):c.5359G>T (p.Gly1787Cys)
|
|
|
NM_000138.5(FBN1):c.5360G>A (p.Gly1787Asp)
|
rs2141260386
|
|
NM_000138.5(FBN1):c.5363G>A (p.Ser1788Asn)
|
rs1303042338
|
|
NM_000138.5(FBN1):c.5365T>A (p.Phe1789Ile)
|
|
|
NM_000138.5(FBN1):c.5369G>A (p.Arg1790Gln)
|
rs1555396428
|
|
NM_000138.5(FBN1):c.5380C>G (p.Pro1794Ala)
|
|
|
NM_000138.5(FBN1):c.5405A>G (p.Lys1802Arg)
|
rs886051248
|
|
NM_000138.5(FBN1):c.5423-17T>G
|
|
|
NM_000138.5(FBN1):c.5423-18G>T
|
|
|
NM_000138.5(FBN1):c.5423A>G (p.Asp1808Gly)
|
rs2141256144
|
|
NM_000138.5(FBN1):c.5425A>G (p.Ile1809Val)
|
|
|
NM_000138.5(FBN1):c.5428G>T (p.Asp1810Tyr)
|
rs2043210566
|
|
NM_000138.5(FBN1):c.5429A>T (p.Asp1810Val)
|
rs2043210544
|
|
NM_000138.5(FBN1):c.5439G>C (p.Gln1813His)
|
|
|
NM_000138.5(FBN1):c.5444G>A (p.Gly1815Asp)
|
|
|
NM_000138.5(FBN1):c.5458C>A (p.Arg1820Ser)
|
|
|
NM_000138.5(FBN1):c.545G>A (p.Arg182Lys)
|
rs2044026912
|
|
NM_000138.5(FBN1):c.5473A>G (p.Ile1825Val)
|
rs2141256032
|
|
NM_000138.5(FBN1):c.5475C>T (p.Ile1825=)
|
|
|
NM_000138.5(FBN1):c.5477A>G (p.Asn1826Ser)
|
rs2043210015
|
|
NM_000138.5(FBN1):c.5482G>A (p.Ala1828Thr)
|
rs1566900504
|
|
NM_000138.5(FBN1):c.5485G>T (p.Gly1829Cys)
|
|
|
NM_000138.5(FBN1):c.5494C>T (p.Arg1832Cys)
|
|
|
NM_000138.5(FBN1):c.5495G>T (p.Arg1832Leu)
|
|
|
NM_000138.5(FBN1):c.5516A>C (p.Tyr1839Ser)
|
|
|
NM_000138.5(FBN1):c.5516A>G (p.Tyr1839Cys)
|
rs758725993
|
|
NM_000138.5(FBN1):c.5521T>C (p.Phe1841Leu)
|
|
|
NM_000138.5(FBN1):c.5525C>T (p.Thr1842Ile)
|
rs1566900477
|
|
NM_000138.5(FBN1):c.5528C>T (p.Ser1843Phe)
|
|
|
NM_000138.5(FBN1):c.5545+12C>T
|
rs193922213
|
|
NM_000138.5(FBN1):c.5545+3A>G
|
|
|
NM_000138.5(FBN1):c.5546-3C>G
|
|
|
NM_000138.5(FBN1):c.5549G>T (p.Arg1850Leu)
|
|
|
NM_000138.5(FBN1):c.554C>T (p.Pro185Leu)
|
|
|
NM_000138.5(FBN1):c.5552A>G (p.Asn1851Ser)
|
rs193922214
|
|
NM_000138.5(FBN1):c.5566A>G (p.Ile1856Val)
|
rs2141252254
|
|
NM_000138.5(FBN1):c.5569C>T (p.Pro1857Ser)
|
rs2043179615
|
|
NM_000138.5(FBN1):c.5573A>C (p.Asn1858Thr)
|
rs751472490
|
|
NM_000138.5(FBN1):c.5575A>G (p.Ile1859Val)
|
|
|
NM_000138.5(FBN1):c.5576T>C (p.Ile1859Thr)
|
|
|
NM_000138.5(FBN1):c.5581A>C (p.Ser1861Arg)
|
rs2141252219
|
|
NM_000138.5(FBN1):c.5587G>A (p.Gly1863Arg)
|
rs1555395987
|
|
NM_000138.5(FBN1):c.5588G>A (p.Gly1863Glu)
|
rs113086760
|
|
NM_000138.5(FBN1):c.5603C>G (p.Thr1868Arg)
|
rs145082616
|
|
NM_000138.5(FBN1):c.560T>A (p.Phe187Tyr)
|
|
|
NM_000138.5(FBN1):c.5613C>A (p.Ser1871Arg)
|
rs776310363
|
|
NM_000138.5(FBN1):c.5633C>T (p.Thr1878Ile)
|
|
|
NM_000138.5(FBN1):c.5638T>G (p.Phe1880Val)
|
rs1555395977
|
|
NM_000138.5(FBN1):c.5639T>C (p.Phe1880Ser)
|
rs1597535186
|
|
NM_000138.5(FBN1):c.5651A>T (p.Asp1884Val)
|
|
|
NM_000138.5(FBN1):c.5655C>G (p.Asp1885Glu)
|
|
|
NM_000138.5(FBN1):c.565G>T (p.Val189Leu)
|
rs2044026712
|
|
NM_000138.5(FBN1):c.5664G>A (p.Met1888Ile)
|
rs1060501056
|
|
NM_000138.5(FBN1):c.5671+6T>A
|
|
|
NM_000138.5(FBN1):c.5672-3T>C
|
rs193922217
|
|
NM_000138.5(FBN1):c.5672-4C>G
|
|
|
NM_000138.5(FBN1):c.5672-8C>G
|
rs2141250478
|
|
NM_000138.5(FBN1):c.5674A>G (p.Ile1892Val)
|
rs760170973
|
|
NM_000138.5(FBN1):c.5674A>T (p.Ile1892Leu)
|
rs760170973
|
|
NM_000138.5(FBN1):c.5708G>T (p.Gly1903Val)
|
|
|
NM_000138.5(FBN1):c.5711C>T (p.Thr1904Ile)
|
rs1269096957
|
|
NM_000138.5(FBN1):c.5722A>C (p.Thr1908Pro)
|
rs1555395834
|
|
NM_000138.5(FBN1):c.5723C>T (p.Thr1908Ile)
|
rs1304811982
|
|
NM_000138.5(FBN1):c.5725A>C (p.Ile1909Leu)
|
rs886038785
|
|
NM_000138.5(FBN1):c.5726T>C (p.Ile1909Thr)
|
rs794728333
|
|
NM_000138.5(FBN1):c.572G>T (p.Ser191Ile)
|
|
|
NM_000138.5(FBN1):c.5735T>C (p.Phe1912Ser)
|
rs1555395830
|
|
NM_000138.5(FBN1):c.5736C>G (p.Phe1912Leu)
|
rs1555395829
|
|
NM_000138.5(FBN1):c.5741G>T (p.Cys1914Phe)
|
rs1555395827
|
|
NM_000138.5(FBN1):c.5743C>A (p.Arg1915Ser)
|
rs1555395826
|
|
NM_000138.5(FBN1):c.5743C>T (p.Arg1915Cys)
|
rs1555395826
|
|
NM_000138.5(FBN1):c.5744G>A (p.Arg1915His)
|
|
|
NM_000138.5(FBN1):c.5746_5748dup (p.Cys1916dup)
|
rs1597533588
|
|
NM_000138.5(FBN1):c.5755G>A (p.Gly1919Ser)
|
rs867549163
|
|
NM_000138.5(FBN1):c.5762T>G (p.Ile1921Ser)
|
|
|
NM_000138.5(FBN1):c.5770C>A (p.His1924Asn)
|
rs1201849394
|
|
NM_000138.5(FBN1):c.5772CAA[1] (p.Asn1926del)
|
|
|
NM_000138.5(FBN1):c.5774A>G (p.Asn1925Ser)
|
rs781395141
|
|
NM_000138.5(FBN1):c.5786T>C (p.Ile1929Thr)
|
|
|
NM_000138.5(FBN1):c.5788+36C>A
|
rs1555395814
|
|
NM_000138.5(FBN1):c.5788+4C>A
|
rs577301285
|
|
NM_000138.5(FBN1):c.5788+4C>T
|
rs577301285
|
|
NM_000138.5(FBN1):c.5788+5G>C
|
|
|
NM_000138.5(FBN1):c.5788+5G>T
|
rs193922219
|
|
NM_000138.5(FBN1):c.5789-10T>A
|
rs2141249325
|
|
NM_000138.5(FBN1):c.5789-11T>G
|
|
|
NM_000138.5(FBN1):c.5789-13G>A
|
rs777593835
|
|
NM_000138.5(FBN1):c.5789-14G>A
|
|
|
NM_000138.5(FBN1):c.5789A>G (p.Asp1930Gly)
|
|
|
NM_000138.5(FBN1):c.5791G>A (p.Val1931Ile)
|
rs1555395768
|
|
NM_000138.5(FBN1):c.5795A>C (p.Asp1932Ala)
|
rs1329934461
|
|
NM_000138.5(FBN1):c.5797G>A (p.Glu1933Lys)
|
rs2141249307
|
|
NM_000138.5(FBN1):c.5806A>G (p.Ser1936Gly)
|
rs869025409
|
|
NM_000138.5(FBN1):c.5809G>A (p.Gly1937Arg)
|
|
|
NM_000138.5(FBN1):c.5810G>A (p.Gly1937Glu)
|
rs1566898444
|
|
NM_000138.5(FBN1):c.5815G>T (p.Gly1939Trp)
|
|
|
NM_000138.5(FBN1):c.5816G>A (p.Gly1939Glu)
|
|
|
NM_000138.5(FBN1):c.5821C>T (p.Leu1941Phe)
|
rs1555395763
|
|
NM_000138.5(FBN1):c.5828G>T (p.Arg1943Ile)
|
rs1566898433
|
|
NM_000138.5(FBN1):c.5834G>A (p.Gly1945Asp)
|
rs1555395760
|
|
NM_000138.5(FBN1):c.5848A>G (p.Thr1950Ala)
|
|
|
NM_000138.5(FBN1):c.5852T>C (p.Val1951Ala)
|
|
|
NM_000138.5(FBN1):c.5855G>T (p.Gly1952Val)
|
rs2141249218
|
|
NM_000138.5(FBN1):c.5856G>T (p.Gly1952=)
|
|
|
NM_000138.5(FBN1):c.5864A>G (p.Gln1955Arg)
|
|
|
NM_000138.5(FBN1):c.5865G>T (p.Gln1955His)
|
rs1292712431
|
|
NM_000138.5(FBN1):c.5885A>G (p.Tyr1962Cys)
|
rs1346043320
|
|
NM_000138.5(FBN1):c.5896C>G (p.Pro1966Ala)
|
|
|
NM_000138.5(FBN1):c.589G>C (p.Gly197Arg)
|
rs886051251
|
|
NM_000138.5(FBN1):c.5902G>A (p.Gly1968Arg)
|
rs768997549
|
|
NM_000138.5(FBN1):c.5917+3A>C
|
rs202158568
|
|
NM_000138.5(FBN1):c.5917+5G>A
|
rs1555395743
|
|
NM_000138.5(FBN1):c.5917+5G>T
|
rs1555395743
|
|
NM_000138.5(FBN1):c.5918A>G (p.Asp1973Gly)
|
rs794728242
|
|
NM_000138.5(FBN1):c.5924A>G (p.Asn1975Ser)
|
rs2141248181
|
|
NM_000138.5(FBN1):c.5926G>A (p.Glu1976Lys)
|
|
|
NM_000138.5(FBN1):c.5927A>G (p.Glu1976Gly)
|
rs1555395665
|
|
NM_000138.5(FBN1):c.5938G>C (p.Glu1980Gln)
|
rs370940450
|
|
NM_000138.5(FBN1):c.595C>G (p.Leu199Val)
|
rs1221144366
|
|
NM_000138.5(FBN1):c.595C>T (p.Leu199Phe)
|
rs1221144366
|
|
NM_000138.5(FBN1):c.5971A>C (p.Asn1991His)
|
rs794728243
|
|
NM_000138.5(FBN1):c.5976G>C (p.Leu1992Phe)
|
|
|
NM_000138.5(FBN1):c.5980_5981delinsTT (p.Gly1994Leu)
|
rs1597531779
|
|
NM_000138.5(FBN1):c.5981G>A (p.Gly1994Glu)
|
rs1484900122
|
|
NM_000138.5(FBN1):c.5981G>C (p.Gly1994Ala)
|
rs1484900122
|
|
NM_000138.5(FBN1):c.5981G>T (p.Gly1994Val)
|
rs1484900122
|
|
NM_000138.5(FBN1):c.5983T>C (p.Ser1995Pro)
|
rs1555395649
|
|
NM_000138.5(FBN1):c.5986T>C (p.Tyr1996His)
|
|
|
NM_000138.5(FBN1):c.5995A>G (p.Ile1999Val)
|
rs183690919
|
|
NM_000138.5(FBN1):c.6005C>T (p.Pro2002Leu)
|
rs1566898093
|
|
NM_000138.5(FBN1):c.6036A>G (p.Glu2012=)
|
rs1597531690
|
|
NM_000138.5(FBN1):c.6037+11_6037+12delinsCT
|
|
|
NM_000138.5(FBN1):c.6037+9G>A
|
|
|
NM_000138.5(FBN1):c.6038-3T>C
|
rs2043117848
|
|
NM_000138.5(FBN1):c.6038A>G (p.Asp2013Gly)
|
|
|
NM_000138.5(FBN1):c.6038A>T (p.Asp2013Val)
|
rs869025410
|
|
NM_000138.5(FBN1):c.6038_6040dup (p.Asp2013_Ile2014insAsn)
|
rs1597529929
|
|
NM_000138.5(FBN1):c.6053T>C (p.Val2018Ala)
|
rs2043117596
|
|
NM_000138.5(FBN1):c.6073G>A (p.Ala2025Thr)
|
|
|
NM_000138.5(FBN1):c.6082A>C (p.Thr2028Pro)
|
|
|
NM_000138.5(FBN1):c.6110A>C (p.Lys2037Thr)
|
|
|
NM_000138.5(FBN1):c.6122C>T (p.Pro2041Leu)
|
|
|
NM_000138.5(FBN1):c.6130T>G (p.Phe2044Val)
|
rs2043116688
|
|
NM_000138.5(FBN1):c.6140C>T (p.Ser2047Phe)
|
rs1060501046
|
|
NM_000138.5(FBN1):c.6145A>G (p.Ser2049Gly)
|
rs1597529691
|
|
NM_000138.5(FBN1):c.6147T>G (p.Ser2049Arg)
|
|
|
NM_000138.5(FBN1):c.6161A>G (p.Gln2054Arg)
|
rs2043116342
|
|
NM_000138.5(FBN1):c.6162A>G (p.Gln2054=)
|
|
|
NM_000138.5(FBN1):c.6164-5T>C
|
rs2043085940
|
|
NM_000138.5(FBN1):c.6170G>T (p.Arg2057Leu)
|
|
|
NM_000138.5(FBN1):c.6173T>C (p.Met2058Thr)
|
|
|
NM_000138.5(FBN1):c.6181T>A (p.Cys2061Ser)
|
|
|
NM_000138.5(FBN1):c.6185A>C (p.Tyr2062Ser)
|
rs1555395266
|
|
NM_000138.5(FBN1):c.6188C>T (p.Ala2063Val)
|
|
|
NM_000138.5(FBN1):c.620C>T (p.Thr207Met)
|
|
|
NM_000138.5(FBN1):c.6235T>C (p.Ser2079Pro)
|
|
|
NM_000138.5(FBN1):c.623T>A (p.Leu208His)
|
rs2044025908
|
|
NM_000138.5(FBN1):c.6254G>A (p.Cys2085Tyr)
|
rs1555395261
|
|
NM_000138.5(FBN1):c.6264G>C (p.Lys2088Asn)
|
rs886051247
|
|
NM_000138.5(FBN1):c.6277G>C (p.Gly2093Arg)
|
rs1064793117
|
|
NM_000138.5(FBN1):c.6282C>A (p.Asp2094Glu)
|
|
|
NM_000138.5(FBN1):c.6303G>A (p.Thr2101=)
|
rs2043084739
|
|
NM_000138.5(FBN1):c.6308C>T (p.Pro2103Leu)
|
|
|
NM_000138.5(FBN1):c.6313+20T>C
|
|
|
NM_000138.5(FBN1):c.6313+5G>C
|
rs878853688
|
|
NM_000138.5(FBN1):c.6313G>A (p.Glu2105Lys)
|
rs794728247
|
|
NM_000138.5(FBN1):c.6317C>T (p.Ala2106Val)
|
|
|
NM_000138.5(FBN1):c.6320T>G (p.Phe2107Cys)
|
rs1555395230
|
|
NM_000138.5(FBN1):c.6322C>T (p.Arg2108Cys)
|
rs1246984265
|
|
NM_000138.5(FBN1):c.6335C>G (p.Pro2112Arg)
|
|
|
NM_000138.5(FBN1):c.6336T>G (p.Pro2112=)
|
rs772876451
|
|
NM_000138.5(FBN1):c.6337T>C (p.Tyr2113His)
|
|
|
NM_000138.5(FBN1):c.6347G>C (p.Gly2116Ala)
|
rs1555395226
|
|
NM_000138.5(FBN1):c.6349A>G (p.Ile2117Val)
|
rs572754741
|
|
NM_000138.5(FBN1):c.6350T>A (p.Ile2117Asn)
|
rs769196373
|
|
NM_000138.5(FBN1):c.6355G>A (p.Val2119Met)
|
rs876660976
|
|
NM_000138.5(FBN1):c.6357G>C (p.Val2119=)
|
rs886051246
|
|
NM_000138.5(FBN1):c.6359G>T (p.Gly2120Val)
|
rs1310047239
|
|
NM_000138.5(FBN1):c.6362C>A (p.Pro2121His)
|
|
|
NM_000138.5(FBN1):c.6365A>G (p.Asp2122Gly)
|
|
|
NM_000138.5(FBN1):c.6379+3C>G
|
rs2043081154
|
|
NM_000138.5(FBN1):c.6379+5G>A
|
rs1085307875
|
|
NM_000138.5(FBN1):c.6379G>A (p.Asp2127Asn)
|
rs1555395225
|
|
NM_000138.5(FBN1):c.6379G>C (p.Asp2127His)
|
|
|
NM_000138.5(FBN1):c.6380-83del
|
rs193922222
|
|
NM_000138.5(FBN1):c.6380A>C (p.Asp2127Ala)
|
rs2141240523
|
|
NM_000138.5(FBN1):c.6383T>C (p.Met2128Thr)
|
rs2141240519
|
|
NM_000138.5(FBN1):c.6394A>G (p.Lys2132Glu)
|
|
|
NM_000138.5(FBN1):c.6397_6399del (p.Glu2133del)
|
rs1060501037
|
|
NM_000138.5(FBN1):c.6401C>T (p.Pro2134Leu)
|
rs1566896102
|
|
NM_000138.5(FBN1):c.6403G>C (p.Asp2135His)
|
rs746167150
|
|
NM_000138.5(FBN1):c.6404A>T (p.Asp2135Val)
|
|
|
NM_000138.5(FBN1):c.640G>A (p.Gly214Ser)
|
rs794728162
|
|
NM_000138.5(FBN1):c.6422A>T (p.Gln2141Leu)
|
|
|
NM_000138.5(FBN1):c.6434C>T (p.Thr2145Ile)
|
rs2043078019
|
|
NM_000138.5(FBN1):c.6446A>T (p.Tyr2149Phe)
|
rs113080385
|
|
NM_000138.5(FBN1):c.6453C>T (p.Cys2151=)
|
rs794728251
|
|
NM_000138.5(FBN1):c.6460C>T (p.Pro2154Ser)
|
rs2043077718
|
|
NM_000138.5(FBN1):c.6461C>T (p.Pro2154Leu)
|
|
|
NM_000138.5(FBN1):c.6473T>G (p.Ile2158Ser)
|
|
|
NM_000138.5(FBN1):c.6491G>A (p.Cys2164Tyr)
|
rs1555395189
|
|
NM_000138.5(FBN1):c.6496+5G>C
|
rs1555395186
|
|
NM_000138.5(FBN1):c.6496G>A (p.Asp2166Asn)
|
rs794728252
|
|
NM_000138.5(FBN1):c.6497-16_6497-15delinsCA
|
|
|
NM_000138.5(FBN1):c.6497-3C>G
|
rs2141237196
|
|
NM_000138.5(FBN1):c.6497A>G (p.Asp2166Gly)
|
|
|
NM_000138.5(FBN1):c.6500_6501insCTGGTTTCT (p.Thr2167_Asp2168insTrpPheLeu)
|
|
|
NM_000138.5(FBN1):c.6512C>T (p.Ser2171Phe)
|
rs1413266501
|
|
NM_000138.5(FBN1):c.6514G>A (p.Val2172Ile)
|
rs1243025749
|
|
NM_000138.5(FBN1):c.6514G>T (p.Val2172Phe)
|
|
|
NM_000138.5(FBN1):c.6515T>C (p.Val2172Ala)
|
|
|
NM_000138.5(FBN1):c.6523C>A (p.Pro2175Thr)
|
rs2043051465
|
|
NM_000138.5(FBN1):c.6524C>T (p.Pro2175Leu)
|
rs2141237135
|
|
NM_000138.5(FBN1):c.6533A>G (p.Asn2178Ser)
|
rs2141237126
|
|
NM_000138.5(FBN1):c.6549T>A (p.Asn2183Lys)
|
rs752192006
|
|
NM_000138.5(FBN1):c.6554T>C (p.Ile2185Thr)
|
rs910656654
|
|
NM_000138.5(FBN1):c.6554T>G (p.Ile2185Ser)
|
rs910656654
|
|
NM_000138.5(FBN1):c.657C>A (p.His219Gln)
|
|
|
NM_000138.5(FBN1):c.6582G>T (p.Glu2194Asp)
|
rs2043050683
|
|
NM_000138.5(FBN1):c.6583G>A (p.Gly2195Arg)
|
rs886038976
|
|
NM_000138.5(FBN1):c.6586T>G (p.Phe2196Val)
|
rs2043050574
|
|
NM_000138.5(FBN1):c.658C>T (p.Pro220Ser)
|
|
|
NM_000138.5(FBN1):c.6590A>C (p.Glu2197Ala)
|
rs763165301
|
|
NM_000138.5(FBN1):c.6591G>T (p.Glu2197Asp)
|
rs2141237031
|
|
NM_000138.5(FBN1):c.6601A>C (p.Met2201Leu)
|
rs776823384
|
|
NM_000138.5(FBN1):c.6603G>A (p.Met2201Ile)
|
|
|
NM_000138.5(FBN1):c.6605T>A (p.Met2202Lys)
|
rs2043050244
|
|
NM_000138.5(FBN1):c.6605T>C (p.Met2202Thr)
|
|
|
NM_000138.5(FBN1):c.660C>A (p.Pro220=)
|
|
|
NM_000138.5(FBN1):c.6616+4C>T
|
|
|
NM_000138.5(FBN1):c.6616G>A (p.Asp2206Asn)
|
rs1555394999
|
|
NM_000138.5(FBN1):c.6617A>G (p.Asp2206Gly)
|
rs1597522584
|
|
NM_000138.5(FBN1):c.6617A>T (p.Asp2206Val)
|
rs1597522584
|
|
NM_000138.5(FBN1):c.6626A>C (p.Glu2209Ala)
|
rs1060501072
|
|
NM_000138.5(FBN1):c.6631G>T (p.Ala2211Ser)
|
rs1407213479
|
|
NM_000138.5(FBN1):c.6640C>G (p.Pro2214Ala)
|
rs1375370990
|
|
NM_000138.5(FBN1):c.6643C>A (p.Leu2215Met)
|
rs921997271
|
|
NM_000138.5(FBN1):c.6655T>G (p.Phe2219Val)
|
rs2043035646
|
|
NM_000138.5(FBN1):c.6659G>C (p.Arg2220Pro)
|
rs780651466
|
|
NM_000138.5(FBN1):c.6659G>T (p.Arg2220Leu)
|
|
|
NM_000138.5(FBN1):c.6662G>A (p.Cys2221Tyr)
|
rs137854460
|
|
NM_000138.5(FBN1):c.6664G>C (p.Val2222Leu)
|
rs1555394920
|
|
NM_000138.5(FBN1):c.6667A>C (p.Asn2223His)
|
rs1555394919
|
|
NM_000138.5(FBN1):c.6676G>A (p.Gly2226Arg)
|
rs2141235108
|
|
NM_000138.5(FBN1):c.6677G>A (p.Gly2226Glu)
|
|
|
NM_000138.5(FBN1):c.6677G>T (p.Gly2226Val)
|
|
|
NM_000138.5(FBN1):c.6678_6680del (p.Ser2227del)
|
rs1555394913
|
|
NM_000138.5(FBN1):c.6679T>C (p.Ser2227Pro)
|
rs1555394915
|
|
NM_000138.5(FBN1):c.6680C>T (p.Ser2227Leu)
|
|
|
NM_000138.5(FBN1):c.6683A>G (p.Tyr2228Cys)
|
rs1555394908
|
|
NM_000138.5(FBN1):c.6697C>T (p.Pro2233Ser)
|
rs794728255
|
|
NM_000138.5(FBN1):c.669G>A (p.Met223Ile)
|
rs910928261
|
|
NM_000138.5(FBN1):c.6704G>A (p.Gly2235Glu)
|
|
|
NM_000138.5(FBN1):c.6707A>T (p.Tyr2236Phe)
|
rs368439899
|
|
NM_000138.5(FBN1):c.6721G>C (p.Asp2241His)
|
|
|
NM_000138.5(FBN1):c.6730A>T (p.Met2244Leu)
|
|
|
NM_000138.5(FBN1):c.6732G>C (p.Met2244Ile)
|
|
|
NM_000138.5(FBN1):c.6739+3G>A
|
|
|
NM_000138.5(FBN1):c.6739+4A>G
|
|
|
NM_000138.5(FBN1):c.673C>G (p.Pro225Ala)
|
rs2044025163
|
|
NM_000138.5(FBN1):c.673C>T (p.Pro225Ser)
|
rs2044025163
|
|
NM_000138.5(FBN1):c.6740-21_6740-18delinsTTTTGTCATTTTTTGTACATTTTTGTCATTTT
|
|
|
NM_000138.5(FBN1):c.6740A>G (p.Asp2247Gly)
|
rs1060501032
|
|
NM_000138.5(FBN1):c.6746A>G (p.Asp2249Gly)
|
rs397515838
|
|
NM_000138.5(FBN1):c.6748G>A (p.Glu2250Lys)
|
rs1597520789
|
|
NM_000138.5(FBN1):c.6757G>A (p.Glu2253Lys)
|
rs1245476075
|
|
NM_000138.5(FBN1):c.6769G>A (p.Asp2257Asn)
|
|
|
NM_000138.5(FBN1):c.6778G>A (p.Glu2260Lys)
|
|
|
NM_000138.5(FBN1):c.6801C>T (p.Asn2267=)
|
rs886051245
|
|
NM_000138.5(FBN1):c.6808G>T (p.Gly2270Cys)
|
rs1060501025
|
|
NM_000138.5(FBN1):c.6809G>T (p.Gly2270Val)
|
rs1566894274
|
|
NM_000138.5(FBN1):c.6823A>G (p.Ile2275Val)
|
|
|
NM_000138.5(FBN1):c.682C>T (p.Pro228Ser)
|
|
|
NM_000138.5(FBN1):c.6830G>A (p.Gly2277Glu)
|
rs2043017212
|
|
NM_000138.5(FBN1):c.6832C>G (p.Pro2278Ala)
|
rs363835
|
|
NM_000138.5(FBN1):c.6836G>T (p.Gly2279Val)
|
rs2043017049
|
|
NM_000138.5(FBN1):c.6839A>G (p.Tyr2280Cys)
|
|
|
NM_000138.5(FBN1):c.6854A>G (p.Asp2285Gly)
|
rs1160071679
|
|
NM_000138.5(FBN1):c.6857G>A (p.Gly2286Glu)
|
rs1455580241
|
|
NM_000138.5(FBN1):c.6859G>A (p.Glu2287Lys)
|
rs551736585
|
|
NM_000138.5(FBN1):c.6862G>A (p.Gly2288Ser)
|
|
|
NM_000138.5(FBN1):c.6868G>A (p.Val2290Ile)
|
|
|
NM_000138.5(FBN1):c.6871+3A>T
|
rs1555394752
|
|
NM_000138.5(FBN1):c.6872-14A>G
|
rs1064793119
|
|
NM_000138.5(FBN1):c.6872-1_6881dup
|
rs2042999380
|
|
NM_000138.5(FBN1):c.6872-9A>G
|
rs794728259
|
|
NM_000138.5(FBN1):c.6872A>G (p.Asp2291Gly)
|
rs370283154
|
|
NM_000138.5(FBN1):c.6879T>G (p.Asn2293Lys)
|
|
|
NM_000138.5(FBN1):c.6880G>A (p.Glu2294Lys)
|
|
|
NM_000138.5(FBN1):c.6888G>T (p.Gln2296His)
|
rs363830
|
|
NM_000138.5(FBN1):c.6890C>G (p.Thr2297Arg)
|
|
|
NM_000138.5(FBN1):c.6901A>T (p.Ile2301Phe)
|
|
|
NM_000138.5(FBN1):c.6911A>C (p.Asn2304Thr)
|
|
|
NM_000138.5(FBN1):c.6925A>T (p.Asn2309Tyr)
|
rs2141229967
|
|
NM_000138.5(FBN1):c.6931C>T (p.Arg2311Cys)
|
|
|
NM_000138.5(FBN1):c.6934G>A (p.Gly2312Arg)
|
|
|
NM_000138.5(FBN1):c.6938G>T (p.Ser2313Ile)
|
|
|
NM_000138.5(FBN1):c.694C>T (p.Arg232Cys)
|
|
|
NM_000138.5(FBN1):c.6957T>C (p.Asn2319=)
|
rs1290478839
|
|
NM_000138.5(FBN1):c.6959A>G (p.Asp2320Gly)
|
rs794728261
|
|
NM_000138.5(FBN1):c.6959A>T (p.Asp2320Val)
|
rs794728261
|
|
NM_000138.5(FBN1):c.697C>A (p.Arg233Ser)
|
rs397515841
|
|
NM_000138.5(FBN1):c.697C>T (p.Arg233Cys)
|
rs397515841
|
|
NM_000138.5(FBN1):c.6980A>G (p.Asn2327Ser)
|
|
|
NM_000138.5(FBN1):c.6985G>A (p.Asp2329Asn)
|
|
|
NM_000138.5(FBN1):c.6997+17_6997+18delinsGA
|
|
|
NM_000138.5(FBN1):c.6997+5G>A
|
rs2042997205
|
|
NM_000138.5(FBN1):c.6997+5G>T
|
rs2042997205
|
|
NM_000138.5(FBN1):c.6997+5dup
|
|
|
NM_000138.5(FBN1):c.6998-13A>G
|
rs2042989627
|
|
NM_000138.5(FBN1):c.6998-40del
|
rs193922229
|
|
NM_000138.5(FBN1):c.69T>C (p.His23=)
|
rs2140787712
|
|
NM_000138.5(FBN1):c.7003C>T (p.Arg2335Trp)
|
rs794728262
|
|
NM_000138.5(FBN1):c.7004G>A (p.Arg2335Gln)
|
rs761248433
|
|
NM_000138.5(FBN1):c.7007A>T (p.Glu2336Val)
|
|
|
NM_000138.5(FBN1):c.7010G>C (p.Gly2337Ala)
|
|
|
NM_000138.5(FBN1):c.7013A>G (p.Tyr2338Cys)
|
rs2141229151
|
|
NM_000138.5(FBN1):c.701G>A (p.Gly234Asp)
|
rs1555401670
|
|
NM_000138.5(FBN1):c.7022_7039del (p.Thr2341_Asn2346del)
|
|
|
NM_000138.5(FBN1):c.7027G>T (p.Val2343Leu)
|
|
|
NM_000138.5(FBN1):c.7038C>T (p.Asn2346=)
|
|
|
NM_000138.5(FBN1):c.7039A>T (p.Met2347Leu)
|
rs1284375434
|
|
NM_000138.5(FBN1):c.7041G>A (p.Met2347Ile)
|
|
|
NM_000138.5(FBN1):c.7042T>C (p.Cys2348Arg)
|
rs1555394576
|
|
NM_000138.5(FBN1):c.7048A>G (p.Ile2350Val)
|
rs794728263
|
|
NM_000138.5(FBN1):c.7061A>G (p.Asn2354Ser)
|
|
|
NM_000138.5(FBN1):c.7064G>A (p.Arg2355Lys)
|
rs376372763
|
|
NM_000138.5(FBN1):c.7078A>C (p.Lys2360Gln)
|
|
|
NM_000138.5(FBN1):c.7082C>G (p.Ser2361Trp)
|
rs397515844
|
|
NM_000138.5(FBN1):c.7096G>A (p.Asp2366Asn)
|
rs1259235311
|
|
NM_000138.5(FBN1):c.7106G>C (p.Arg2369Thr)
|
|
|
NM_000138.5(FBN1):c.7109G>A (p.Gly2370Asp)
|
|
|
NM_000138.5(FBN1):c.7114G>A (p.Gly2372Ser)
|
rs2042988137
|
|
NM_000138.5(FBN1):c.7115G>T (p.Gly2372Val)
|
rs112369155
|
|
NM_000138.5(FBN1):c.7117C>T (p.Pro2373Ser)
|
|
|
NM_000138.5(FBN1):c.7121A>G (p.His2374Arg)
|
rs1060501018
|
|
NM_000138.5(FBN1):c.7136C>T (p.Pro2379Leu)
|
rs1295154212
|
|
NM_000138.5(FBN1):c.7140C>G (p.Phe2380Leu)
|
|
|
NM_000138.5(FBN1):c.7146G>T (p.Gly2382=)
|
|
|
NM_000138.5(FBN1):c.7150G>A (p.Val2384Met)
|
|
|
NM_000138.5(FBN1):c.7154C>T (p.Ala2385Val)
|
|
|
NM_000138.5(FBN1):c.7160A>G (p.Lys2387Arg)
|
|
|
NM_000138.5(FBN1):c.7162A>G (p.Lys2388Glu)
|
rs1566893398
|
|
NM_000138.5(FBN1):c.716T>C (p.Ile239Thr)
|
|
|
NM_000138.5(FBN1):c.716T>G (p.Ile239Ser)
|
|
|
NM_000138.5(FBN1):c.7171C>T (p.Pro2391Ser)
|
|
|
NM_000138.5(FBN1):c.7172C>G (p.Pro2391Arg)
|
|
|
NM_000138.5(FBN1):c.7175A>G (p.His2392Arg)
|
|
|
NM_000138.5(FBN1):c.7178G>C (p.Gly2393Ala)
|
|
|
NM_000138.5(FBN1):c.7184G>T (p.Gly2395Val)
|
rs397515849
|
|
NM_000138.5(FBN1):c.7191G>T (p.Met2397Ile)
|
rs2042987428
|
|
NM_000138.5(FBN1):c.7193C>T (p.Thr2398Ile)
|
rs1169351376
|
|
NM_000138.5(FBN1):c.7198G>A (p.Gly2400Arg)
|
rs2141228805
|
|
NM_000138.5(FBN1):c.719G>A (p.Arg240His)
|
rs768744583
|
|
NM_000138.5(FBN1):c.71G>C (p.Gly24Ala)
|
rs768993489
|
|
NM_000138.5(FBN1):c.7201G>T (p.Ala2401Ser)
|
rs771260695
|
|
NM_000138.5(FBN1):c.7208T>A (p.Ile2403Asn)
|
rs1555394449
|
|
NM_000138.5(FBN1):c.7225A>G (p.Ile2409Val)
|
|
|
NM_000138.5(FBN1):c.7228C>G (p.His2410Asp)
|
rs548057493
|
|
NM_000138.5(FBN1):c.7235T>C (p.Val2412Ala)
|
rs1060501061
|
|
NM_000138.5(FBN1):c.723G>A (p.Thr241=)
|
rs757264206
|
|
NM_000138.5(FBN1):c.7244A>T (p.Asn2415Ile)
|
rs1566892910
|
|
NM_000138.5(FBN1):c.7246G>A (p.Gly2416Arg)
|
rs794728269
|
|
NM_000138.5(FBN1):c.7247G>T (p.Gly2416Val)
|
rs1555394442
|
|
NM_000138.5(FBN1):c.7249G>A (p.Glu2417Lys)
|
|
|
NM_000138.5(FBN1):c.7250A>G (p.Glu2417Gly)
|
|
|
NM_000138.5(FBN1):c.7251A>C (p.Glu2417Asp)
|
|
|
NM_000138.5(FBN1):c.7255G>A (p.Val2419Ile)
|
|
|
NM_000138.5(FBN1):c.7258A>C (p.Asn2420His)
|
|
|
NM_000138.5(FBN1):c.7259A>G (p.Asn2420Ser)
|
rs2141226971
|
|
NM_000138.5(FBN1):c.7276C>T (p.His2426Tyr)
|
rs372369490
|
|
NM_000138.5(FBN1):c.7276_7278del (p.His2426del)
|
rs2141226930
|
|
NM_000138.5(FBN1):c.7295G>C (p.Gly2432Ala)
|
rs1266993955
|
|
NM_000138.5(FBN1):c.7303C>G (p.Pro2435Ala)
|
|
|
NM_000138.5(FBN1):c.7306G>A (p.Asp2436Asn)
|
|
|
NM_000138.5(FBN1):c.7327G>A (p.Val2443Ile)
|
|
|
NM_000138.5(FBN1):c.7328T>C (p.Val2443Ala)
|
rs2141226842
|
|
NM_000138.5(FBN1):c.7330+3A>G
|
rs2042974020
|
|
NM_000138.5(FBN1):c.7330G>T (p.Asp2444Tyr)
|
rs1555394434
|
|
NM_000138.5(FBN1):c.7334T>C (p.Leu2445Pro)
|
|
|
NM_000138.5(FBN1):c.7347_7358del (p.Asn2449_Pro2452del)
|
rs2042971876
|
|
NM_000138.5(FBN1):c.7349A>G (p.Gln2450Arg)
|
|
|
NM_000138.5(FBN1):c.734A>C (p.Gln245Pro)
|
|
|
NM_000138.5(FBN1):c.7352C>T (p.Ala2451Val)
|
|
|
NM_000138.5(FBN1):c.7366A>C (p.Asn2456His)
|
rs2141226433
|
|
NM_000138.5(FBN1):c.737-9A>G
|
rs1060501020
|
|
NM_000138.5(FBN1):c.7372A>G (p.Ile2458Val)
|
|
|
NM_000138.5(FBN1):c.7374C>G (p.Ile2458Met)
|
rs2042971724
|
|
NM_000138.5(FBN1):c.737A>T (p.Asp246Val)
|
|
|
NM_000138.5(FBN1):c.7384A>C (p.Thr2462Pro)
|
rs371278936
|
|
NM_000138.5(FBN1):c.7384A>G (p.Thr2462Ala)
|
rs371278936
|
|
NM_000138.5(FBN1):c.7384A>T (p.Thr2462Ser)
|
|
|
NM_000138.5(FBN1):c.7394G>T (p.Ser2465Ile)
|
rs2141226387
|
|
NM_000138.5(FBN1):c.7397A>G (p.Tyr2466Cys)
|
rs1555394403
|
|
NM_000138.5(FBN1):c.73G>T (p.Ala25Ser)
|
|
|
NM_000138.5(FBN1):c.7400A>C (p.Gln2467Pro)
|
rs770839761
|
|
NM_000138.5(FBN1):c.7412C>T (p.Pro2471Leu)
|
rs193922233
|
|
NM_000138.5(FBN1):c.7415A>G (p.Lys2472Arg)
|
|
|
NM_000138.5(FBN1):c.7440_7442del (p.Arg2481del)
|
|
|
NM_000138.5(FBN1):c.7460A>G (p.Asp2487Gly)
|
|
|
NM_000138.5(FBN1):c.7463A>C (p.Glu2488Ala)
|
|
|
NM_000138.5(FBN1):c.7475A>G (p.Lys2492Arg)
|
|
|
NM_000138.5(FBN1):c.7480C>T (p.His2494Tyr)
|
|
|
NM_000138.5(FBN1):c.7490A>C (p.Gln2497Pro)
|
rs2042947403
|
|
NM_000138.5(FBN1):c.7492T>G (p.Phe2498Val)
|
|
|
NM_000138.5(FBN1):c.7496T>C (p.Leu2499Pro)
|
|
|
NM_000138.5(FBN1):c.74C>T (p.Ala25Val)
|
|
|
NM_000138.5(FBN1):c.7505A>T (p.Asn2502Ile)
|
rs1555394243
|
|
NM_000138.5(FBN1):c.7508C>T (p.Thr2503Ile)
|
rs749654334
|
|
NM_000138.5(FBN1):c.7510A>T (p.Ile2504Phe)
|
rs1223532755
|
|
NM_000138.5(FBN1):c.7514G>A (p.Gly2505Asp)
|
|
|
NM_000138.5(FBN1):c.7520T>G (p.Phe2507Cys)
|
|
|
NM_000138.5(FBN1):c.7529A>C (p.Lys2510Thr)
|
|
|
NM_000138.5(FBN1):c.7540G>A (p.Gly2514Arg)
|
rs363811
|
|
NM_000138.5(FBN1):c.7547C>T (p.Thr2516Ile)
|
rs2042946390
|
|
NM_000138.5(FBN1):c.7554C>A (p.His2518Gln)
|
rs2042946233
|
|
NM_000138.5(FBN1):c.7570+3G>A
|
rs771716341
|
|
NM_000138.5(FBN1):c.7570G>C (p.Asp2524His)
|
rs2042945976
|
|
NM_000138.5(FBN1):c.7571-13C>G
|
|
|
NM_000138.5(FBN1):c.7586C>A (p.Thr2529Asn)
|
|
|
NM_000138.5(FBN1):c.7599T>A (p.Asn2533Lys)
|
|
|
NM_000138.5(FBN1):c.760C>G (p.Pro254Ala)
|
rs2141353825
|
|
NM_000138.5(FBN1):c.7610C>G (p.Ser2537Cys)
|
rs2141221930
|
|
NM_000138.5(FBN1):c.7627A>C (p.Asn2543His)
|
|
|
NM_000138.5(FBN1):c.7630A>G (p.Thr2544Ala)
|
|
|
NM_000138.5(FBN1):c.7633C>T (p.Pro2545Ser)
|
rs2141221883
|
|
NM_000138.5(FBN1):c.763G>T (p.Gly255Trp)
|
|
|
NM_000138.5(FBN1):c.7641C>G (p.Ser2547Arg)
|
rs1555394198
|
|
NM_000138.5(FBN1):c.7642T>C (p.Phe2548Leu)
|
rs2141221864
|
|
NM_000138.5(FBN1):c.7643T>A (p.Phe2548Tyr)
|
|
|
NM_000138.5(FBN1):c.7658A>T (p.Gln2553Leu)
|
|
|
NM_000138.5(FBN1):c.7675G>A (p.Asp2559Asn)
|
|
|
NM_000138.5(FBN1):c.7688C>G (p.Ser2563Cys)
|
rs2042941564
|
|
NM_000138.5(FBN1):c.7697A>C (p.Glu2566Ala)
|
rs2042941498
|
|
NM_000138.5(FBN1):c.7699+5G>A
|
rs1555394187
|
|
NM_000138.5(FBN1):c.7700-10T>G
|
|
|
NM_000138.5(FBN1):c.7706A>C (p.Asp2569Ala)
|
|
|
NM_000138.5(FBN1):c.7706A>G (p.Asp2569Gly)
|
rs2141220859
|
|
NM_000138.5(FBN1):c.7714G>A (p.Glu2572Lys)
|
rs2141220835
|
|
NM_000138.5(FBN1):c.7718G>A (p.Gly2573Asp)
|
|
|
NM_000138.5(FBN1):c.7726C>T (p.Arg2576Cys)
|
rs147195031
|
|
NM_000138.5(FBN1):c.7732C>A (p.Gln2578Lys)
|
|
|
NM_000138.5(FBN1):c.7735_7746dup (p.His2579_Gln2582dup)
|
rs2141220752
|
|
NM_000138.5(FBN1):c.7736A>C (p.His2579Pro)
|
|
|
NM_000138.5(FBN1):c.7737T>G (p.His2579Gln)
|
|
|
NM_000138.5(FBN1):c.7739G>A (p.Gly2580Asp)
|
|
|
NM_000138.5(FBN1):c.7748A>G (p.Asn2583Ser)
|
rs2042934435
|
|
NM_000138.5(FBN1):c.7752C>G (p.Ile2584Met)
|
rs2042934389
|
|
NM_000138.5(FBN1):c.7754T>A (p.Ile2585Asn)
|
|
|
NM_000138.5(FBN1):c.7763A>G (p.Tyr2588Cys)
|
rs1566891436
|
|
NM_000138.5(FBN1):c.778G>A (p.Gly260Arg)
|
rs2043995400
|
|
NM_000138.5(FBN1):c.7793A>C (p.Gln2598Pro)
|
|
|
NM_000138.5(FBN1):c.7797C>G (p.His2599Gln)
|
|
|
NM_000138.5(FBN1):c.7799A>G (p.Tyr2600Cys)
|
rs2141220639
|
|
NM_000138.5(FBN1):c.7806G>C (p.Trp2602Cys)
|
|
|
NM_000138.5(FBN1):c.7812G>C (p.Gln2604His)
|
rs2141220609
|
|
NM_000138.5(FBN1):c.7817_7819del (p.Val2606del)
|
rs1555394136
|
|
NM_000138.5(FBN1):c.7819+3A>C
|
rs1555394135
|
|
NM_000138.5(FBN1):c.7819+4A>G
|
rs794728278
|
|
NM_000138.5(FBN1):c.7819+5G>T
|
|
|
NM_000138.5(FBN1):c.7819G>T (p.Asp2607Tyr)
|
rs1597512576
|
|
NM_000138.5(FBN1):c.7820-3C>G
|
rs193922237
|
|
NM_000138.5(FBN1):c.7820A>G (p.Asp2607Gly)
|
|
|
NM_000138.5(FBN1):c.7825A>G (p.Asn2609Asp)
|
|
|
NM_000138.5(FBN1):c.7830A>T (p.Glu2610Asp)
|
rs1597509823
|
|
NM_000138.5(FBN1):c.7834C>T (p.Leu2612Phe)
|
|
|
NM_000138.5(FBN1):c.7840G>A (p.Ala2614Thr)
|
rs1280320763
|
|
NM_000138.5(FBN1):c.7840G>C (p.Ala2614Pro)
|
rs1280320763
|
|
NM_000138.5(FBN1):c.7841C>G (p.Ala2614Gly)
|
|
|
NM_000138.5(FBN1):c.7843C>G (p.His2615Asp)
|
rs2042899271
|
|
NM_000138.5(FBN1):c.7856G>A (p.Gly2619Glu)
|
rs113926846
|
|
NM_000138.5(FBN1):c.7868A>T (p.His2623Leu)
|
|
|
NM_000138.5(FBN1):c.7871A>G (p.Asn2624Ser)
|
rs113935744
|
|
NM_000138.5(FBN1):c.7876C>G (p.Leu2626Val)
|
rs2042898824
|
|
NM_000138.5(FBN1):c.7879G>C (p.Gly2627Arg)
|
rs193922239
|
|
NM_000138.5(FBN1):c.787A>G (p.Ile263Val)
|
rs876657811
|
|
NM_000138.5(FBN1):c.7880G>T (p.Gly2627Val)
|
rs1555393875
|
|
NM_000138.5(FBN1):c.7883G>A (p.Ser2628Asn)
|
|
|
NM_000138.5(FBN1):c.7895T>C (p.Met2632Thr)
|
|
|
NM_000138.5(FBN1):c.7914G>T (p.Gln2638His)
|
rs1597509725
|
|
NM_000138.5(FBN1):c.793A>T (p.Thr265Ser)
|
rs982468949
|
|
NM_000138.5(FBN1):c.796G>T (p.Val266Phe)
|
|
|
NM_000138.5(FBN1):c.796_810del (p.Val266_Glu270del)
|
|
|
NM_000138.5(FBN1):c.7972C>G (p.Pro2658Ala)
|
rs1555393851
|
|
NM_000138.5(FBN1):c.7979G>A (p.Ser2660Asn)
|
rs2141214726
|
|
NM_000138.5(FBN1):c.7980C>G (p.Ser2660Arg)
|
rs1060501030
|
|
NM_000138.5(FBN1):c.7991C>G (p.Ser2664Cys)
|
rs2042896586
|
|
NM_000138.5(FBN1):c.7991C>T (p.Ser2664Phe)
|
rs2042896586
|
|
NM_000138.5(FBN1):c.7994A>G (p.Asn2665Ser)
|
rs763173031
|
|
NM_000138.5(FBN1):c.799G>C (p.Gly267Arg)
|
rs2141353715
|
|
NM_000138.5(FBN1):c.8002G>T (p.Gly2668Cys)
|
rs1057521100
|
|
NM_000138.5(FBN1):c.8005G>A (p.Gly2669Ser)
|
rs794728281
|
|
NM_000138.5(FBN1):c.8009A>T (p.Tyr2670Phe)
|
rs794728339
|
|
NM_000138.5(FBN1):c.8011C>T (p.Leu2671=)
|
rs886051244
|
|
NM_000138.5(FBN1):c.802T>C (p.Ser268Pro)
|
|
|
NM_000138.5(FBN1):c.802T>G (p.Ser268Ala)
|
|
|
NM_000138.5(FBN1):c.8037C>G (p.Phe2679Leu)
|
|
|
NM_000138.5(FBN1):c.8041A>G (p.Ile2681Val)
|
|
|
NM_000138.5(FBN1):c.8051+3_8051+9del
|
rs2141214499
|
|
NM_000138.5(FBN1):c.8052-12C>A
|
|
|
NM_000138.5(FBN1):c.8052-6_8052-3del
|
rs2141211838
|
|
NM_000138.5(FBN1):c.8054A>G (p.His2685Arg)
|
rs1555393666
|
|
NM_000138.5(FBN1):c.8059G>T (p.Val2687Phe)
|
rs1464168530
|
|
NM_000138.5(FBN1):c.8069T>A (p.Met2690Lys)
|
rs747476726
|
|
NM_000138.5(FBN1):c.8069T>C (p.Met2690Thr)
|
rs747476726
|
|
NM_000138.5(FBN1):c.806T>C (p.Phe269Ser)
|
rs951026080
|
|
NM_000138.5(FBN1):c.8073C>T (p.Gly2691=)
|
|
|
NM_000138.5(FBN1):c.8075T>C (p.Met2692Thr)
|
|
|
NM_000138.5(FBN1):c.807T>A (p.Phe269Leu)
|
|
|
NM_000138.5(FBN1):c.8080C>G (p.Arg2694Gly)
|
rs200309328
|
|
NM_000138.5(FBN1):c.8081G>A (p.Arg2694Gln)
|
rs371375126
|
|
NM_000138.5(FBN1):c.8083G>A (p.Gly2695Arg)
|
rs1555393663
|
|
NM_000138.5(FBN1):c.808G>C (p.Glu270Gln)
|
rs2043994842
|
|
NM_000138.5(FBN1):c.8098C>T (p.Pro2700Ser)
|
|
|
NM_000138.5(FBN1):c.8099C>T (p.Pro2700Leu)
|
rs886038782
|
|
NM_000138.5(FBN1):c.8101G>A (p.Val2701Ile)
|
rs753925682
|
|
NM_000138.5(FBN1):c.8107G>A (p.Gly2703Ser)
|
|
|
NM_000138.5(FBN1):c.8108G>T (p.Gly2703Val)
|
rs794728284
|
|
NM_000138.5(FBN1):c.8121C>A (p.Asp2707Glu)
|
rs1566889147
|
|
NM_000138.5(FBN1):c.8128C>T (p.Leu2710Phe)
|
rs1342786403
|
|
NM_000138.5(FBN1):c.8129T>C (p.Leu2710Pro)
|
rs1297376845
|
|
NM_000138.5(FBN1):c.8134C>T (p.Pro2712Ser)
|
|
|
NM_000138.5(FBN1):c.8137G>A (p.Glu2713Lys)
|
rs2141211697
|
|
NM_000138.5(FBN1):c.8138A>G (p.Glu2713Gly)
|
rs1555393658
|
|
NM_000138.5(FBN1):c.8140G>A (p.Ala2714Thr)
|
rs766170041
|
|
NM_000138.5(FBN1):c.8140G>C (p.Ala2714Pro)
|
|
|
NM_000138.5(FBN1):c.8144G>A (p.Cys2715Tyr)
|
rs1597507716
|
|
NM_000138.5(FBN1):c.8144G>C (p.Cys2715Ser)
|
rs1597507716
|
|
NM_000138.5(FBN1):c.8155A>G (p.Lys2719Glu)
|
|
|
NM_000138.5(FBN1):c.8180G>A (p.Gly2727Asp)
|
rs2042872481
|
|
NM_000138.5(FBN1):c.8188C>T (p.Arg2730Trp)
|
rs1371152380
|
|
NM_000138.5(FBN1):c.8195G>A (p.Ser2732Asn)
|
rs2042872305
|
|
NM_000138.5(FBN1):c.8203G>A (p.Glu2735Lys)
|
|
|
NM_000138.5(FBN1):c.8203G>C (p.Glu2735Gln)
|
|
|
NM_000138.5(FBN1):c.8213C>A (p.Ala2738Asp)
|
rs2042871947
|
|
NM_000138.5(FBN1):c.821C>A (p.Pro274His)
|
rs1085307537
|
|
NM_000138.5(FBN1):c.8223C>G (p.Ile2741Met)
|
rs150065311
|
|
NM_000138.5(FBN1):c.8226+5G>T
|
rs193922243
|
|
NM_000138.5(FBN1):c.8226G>T (p.Glu2742Asp)
|
rs1060501045
|
|
NM_000138.5(FBN1):c.8232G>C (p.Gln2744His)
|
rs376119827
|
|
NM_000138.5(FBN1):c.8233T>G (p.Ser2745Ala)
|
|
|
NM_000138.5(FBN1):c.823G>A (p.Ala275Thr)
|
rs1345051744
|
|
NM_000138.5(FBN1):c.823G>C (p.Ala275Pro)
|
|
|
NM_000138.5(FBN1):c.8249A>G (p.Asn2750Ser)
|
rs763816801
|
|
NM_000138.5(FBN1):c.8255G>A (p.Ser2752Asn)
|
rs2042861973
|
|
NM_000138.5(FBN1):c.8267G>C (p.Trp2756Ser)
|
rs397515861
|
|
NM_000138.5(FBN1):c.8270A>G (p.Asp2757Gly)
|
rs1060501088
|
|
NM_000138.5(FBN1):c.8270A>T (p.Asp2757Val)
|
rs1060501088
|
|
NM_000138.5(FBN1):c.8279A>T (p.Lys2760Met)
|
|
|
NM_000138.5(FBN1):c.827G>A (p.Gly276Glu)
|
|
|
NM_000138.5(FBN1):c.8281A>G (p.Thr2761Ala)
|
|
|
NM_000138.5(FBN1):c.8285C>A (p.Ala2762Asp)
|
|
|
NM_000138.5(FBN1):c.8293G>A (p.Ala2765Thr)
|
|
|
NM_000138.5(FBN1):c.82A>G (p.Asn28Asp)
|
rs1555407418
|
|
NM_000138.5(FBN1):c.8303T>C (p.Ile2768Thr)
|
|
|
NM_000138.5(FBN1):c.830A>T (p.His277Leu)
|
|
|
NM_000138.5(FBN1):c.8312dup (p.Ser2772fs)
|
rs1555393560
|
|
NM_000138.5(FBN1):c.831C>A (p.His277Gln)
|
|
|
NM_000138.5(FBN1):c.8330T>A (p.Ile2777Asn)
|
rs1555393556
|
|
NM_000138.5(FBN1):c.8330T>C (p.Ile2777Thr)
|
rs1555393556
|
|
NM_000138.5(FBN1):c.8336A>C (p.Glu2779Ala)
|
|
|
NM_000138.5(FBN1):c.8337A>C (p.Glu2779Asp)
|
|
|
NM_000138.5(FBN1):c.8347G>C (p.Ala2783Pro)
|
rs2141209966
|
|
NM_000138.5(FBN1):c.8356A>G (p.Thr2786Ala)
|
rs781352764
|
|
NM_000138.5(FBN1):c.8359C>G (p.Leu2787Val)
|
|
|
NM_000138.5(FBN1):c.835C>G (p.Leu279Val)
|
|
|
NM_000138.5(FBN1):c.8363C>G (p.Thr2788Arg)
|
|
|
NM_000138.5(FBN1):c.8365A>C (p.Asn2789His)
|
rs2042859991
|
|
NM_000138.5(FBN1):c.8369A>G (p.His2790Arg)
|
rs1271078955
|
|
NM_000138.5(FBN1):c.8371A>C (p.Asn2791His)
|
|
|
NM_000138.5(FBN1):c.8372A>G (p.Asn2791Ser)
|
|
|
NM_000138.5(FBN1):c.8377T>C (p.Tyr2793His)
|
rs113722038
|
|
NM_000138.5(FBN1):c.8384T>A (p.Ile2795Asn)
|
rs2042859661
|
|
NM_000138.5(FBN1):c.8393G>A (p.Gly2798Glu)
|
rs1060501049
|
|
NM_000138.5(FBN1):c.8396del (p.Asn2799fs)
|
rs1555393540
|
|
NM_000138.5(FBN1):c.8401G>C (p.Asp2801His)
|
rs868087455
|
|
NM_000138.5(FBN1):c.8402A>G (p.Asp2801Gly)
|
|
|
NM_000138.5(FBN1):c.8405G>A (p.Gly2802Asp)
|
rs770484928
|
|
NM_000138.5(FBN1):c.8409C>G (p.Phe2803Leu)
|
|
|
NM_000138.5(FBN1):c.8416dup (p.Ile2806fs)
|
rs1555393538
|
|
NM_000138.5(FBN1):c.8417T>A (p.Ile2806Asn)
|
rs2141209854
|
|
NM_000138.5(FBN1):c.8423A>G (p.Gln2808Arg)
|
|
|
NM_000138.5(FBN1):c.8428del (p.Glu2810fs)
|
rs1555393535
|
|
NM_000138.5(FBN1):c.8432G>A (p.Gly2811Glu)
|
rs2042858918
|
|
NM_000138.5(FBN1):c.8435T>C (p.Ile2812Thr)
|
rs2042858844
|
|
NM_000138.5(FBN1):c.8437A>T (p.Ser2813Cys)
|
rs2042858812
|
|
NM_000138.5(FBN1):c.8438G>A (p.Ser2813Asn)
|
|
|
NM_000138.5(FBN1):c.843A>T (p.Glu281Asp)
|
rs772218768
|
|
NM_000138.5(FBN1):c.8444T>C (p.Leu2815Pro)
|
|
|
NM_000138.5(FBN1):c.8447A>C (p.His2816Pro)
|
rs1555393532
|
|
NM_000138.5(FBN1):c.8471C>A (p.Ala2824Asp)
|
rs1060501084
|
|
NM_000138.5(FBN1):c.8474G>T (p.Gly2825Val)
|
|
|
NM_000138.5(FBN1):c.8477C>G (p.Thr2826Ser)
|
rs748384979
|
|
NM_000138.5(FBN1):c.8480A>C (p.Tyr2827Ser)
|
rs794728287
|
|
NM_000138.5(FBN1):c.8488C>T (p.Gln2830Ter)
|
rs886038795
|
|
NM_000138.5(FBN1):c.8491A>T (p.Ile2831Phe)
|
rs1555393524
|
|
NM_000138.5(FBN1):c.8492T>G (p.Ile2831Ser)
|
rs1555393523
|
|
NM_000138.5(FBN1):c.8497A>G (p.Ser2833Gly)
|
|
|
NM_000138.5(FBN1):c.8500A>G (p.Thr2834Ala)
|
rs1284038548
|
|
NM_000138.5(FBN1):c.8506C>T (p.Leu2836Phe)
|
|
|
NM_000138.5(FBN1):c.8507T>A (p.Leu2836His)
|
rs2141209638
|
|
NM_000138.5(FBN1):c.8516dup (p.Lys2840fs)
|
rs1555393514
|
|
NM_000138.5(FBN1):c.8521G>A (p.Glu2841Lys)
|
rs587782948
|
|
NM_000138.5(FBN1):c.8522A>T (p.Glu2841Val)
|
|
|
NM_000138.5(FBN1):c.8525_8529del (p.Leu2842fs)
|
rs1064794130
|
|
NM_000138.5(FBN1):c.8536G>A (p.Glu2846Lys)
|
rs1555393508
|
|
NM_000138.5(FBN1):c.8536G>C (p.Glu2846Gln)
|
rs1555393508
|
|
NM_000138.5(FBN1):c.8542A>G (p.Lys2848Glu)
|
|
|
NM_000138.5(FBN1):c.8543A>G (p.Lys2848Arg)
|
rs765839151
|
|
NM_000138.5(FBN1):c.8544A>C (p.Lys2848Asn)
|
rs2042856933
|
|
NM_000138.5(FBN1):c.8555A>G (p.Asp2852Gly)
|
rs773653099
|
|
NM_000138.5(FBN1):c.8557T>C (p.Tyr2853His)
|
|
|
NM_000138.5(FBN1):c.8562del (p.Ser2855fs)
|
|
|
NM_000138.5(FBN1):c.8564G>T (p.Ser2855Ile)
|
|
|
NM_000138.5(FBN1):c.8575G>A (p.Gly2859Ser)
|
|
|
NM_000138.5(FBN1):c.8579A>G (p.Asp2860Gly)
|
rs368599541
|
|
NM_000138.5(FBN1):c.8582A>T (p.Asn2861Ile)
|
rs747213800
|
|
NM_000138.5(FBN1):c.8592G>A (p.Met2864Ile)
|
|
|
NM_000138.5(FBN1):c.8597T>A (p.Ile2866Asn)
|
rs1597506544
|
|
NM_000138.5(FBN1):c.859G>A (p.Glu287Lys)
|
|
|
NM_000138.5(FBN1):c.860A>G (p.Glu287Gly)
|
rs1555401454
|
|
NM_000138.5(FBN1):c.862G>A (p.Asp288Asn)
|
|
|
NM_000138.5(FBN1):c.865A>G (p.Ile289Val)
|
|
|
NM_000138.5(FBN1):c.868G>T (p.Asp290Tyr)
|
|
|
NM_000138.5(FBN1):c.872A>T (p.Glu291Val)
|
|
|
NM_000138.5(FBN1):c.87G>T (p.Leu29Phe)
|
|
|
NM_000138.5(FBN1):c.890G>A (p.Gly297Glu)
|
|
|
NM_000138.5(FBN1):c.8G>A (p.Arg3Gln)
|
rs149929989
|
|
NM_000138.5(FBN1):c.902G>C (p.Gly301Ala)
|
rs142888621
|
|
NM_000138.5(FBN1):c.905G>A (p.Gly302Asp)
|
|
|
NM_000138.5(FBN1):c.905G>T (p.Gly302Val)
|
rs779866501
|
|
NM_000138.5(FBN1):c.907G>A (p.Glu303Lys)
|
rs1566919661
|
|
NM_000138.5(FBN1):c.90G>T (p.Glu30Asp)
|
rs778831047
|
|
NM_000138.5(FBN1):c.920C>G (p.Thr307Arg)
|
|
|
NM_000138.5(FBN1):c.928A>C (p.Ser310Arg)
|
|
|
NM_000138.5(FBN1):c.929G>C (p.Ser310Thr)
|
|
|
NM_000138.5(FBN1):c.939C>G (p.Cys313Trp)
|
rs1555401007
|
|
NM_000138.5(FBN1):c.946C>A (p.Pro316Thr)
|
rs756687172
|
|
NM_000138.5(FBN1):c.946C>T (p.Pro316Ser)
|
|
|
NM_000138.5(FBN1):c.947C>A (p.Pro316His)
|
|
|
NM_000138.5(FBN1):c.947C>T (p.Pro316Leu)
|
|
|
NM_000138.5(FBN1):c.95G>A (p.Gly32Glu)
|
rs2140787667
|
|
NM_000138.5(FBN1):c.962C>T (p.Thr321Ile)
|
rs2043911873
|
|
NM_000138.5(FBN1):c.974G>C (p.Gly325Ala)
|
|
|
NM_000138.5(FBN1):c.979A>G (p.Arg327Gly)
|
rs1597587453
|
|
NM_000138.5(FBN1):c.989-10T>A
|
|
|
NM_000138.5(FBN1):c.989-16_989-15del
|
|
|
NM_000138.5(FBN1):c.989A>G (p.Asp330Gly)
|
|
|
NM_000138.5(FBN1):c.98A>G (p.Asn33Ser)
|
rs2140787661
|
|
NM_000138.5(FBN1):c.991G>A (p.Val331Ile)
|
|
|
NM_000138.5(FBN1):c.992T>A (p.Val331Asp)
|
|
|
NM_000138.5(FBN1):c.995G>T (p.Arg332Leu)
|
rs748929044
|
|
NM_000142.5(FGFR3):c.1182G>T (p.Thr394=)
|
rs771495510
|
|
NM_000142.5(FGFR3):c.1199G>T (p.Ser400Ile)
|
rs2108797719
|
|
NM_000142.5(FGFR3):c.811G>A (p.Val271Met)
|
rs1445397378
|
|
NM_000222.3(KIT):c.2294A>G (p.Asp765Gly)
|
rs1060502545
|
|
NM_000222.3(KIT):c.2564A>G (p.Tyr855Cys)
|
rs1722933723
|
|
NM_000222.3(KIT):c.2887A>G (p.Thr963Ala)
|
rs773709702
|
|
NM_000222.3(KIT):c.302A>G (p.His101Arg)
|
rs1274601103
|
|
NM_000243.3(MEFV):c.*169C>T
|
rs558576646
|
|
NM_000243.3(MEFV):c.*190G>C
|
rs114930858
|
|
NM_000243.3(MEFV):c.*292C>G
|
rs560496227
|
|
NM_000243.3(MEFV):c.*394C>T
|
rs1017341912
|
|
NM_000243.3(MEFV):c.*761C>G
|
rs281865551
|
|
NM_000243.3(MEFV):c.*779del
|
rs60407399
|
|
NM_000243.3(MEFV):c.*818A>C
|
rs886051965
|
|
NM_000243.3(MEFV):c.*959T>C
|
rs896051894
|
|
NM_000243.3(MEFV):c.*9C>G
|
rs11466048
|
|
NM_000243.3(MEFV):c.-12C>G
|
rs104895148
|
|
NM_000243.3(MEFV):c.1004C>A (p.Pro335His)
|
|
|
NM_000243.3(MEFV):c.1005C>T (p.Pro335=)
|
rs567739580
|
|
NM_000243.3(MEFV):c.1018G>C (p.Gly340Arg)
|
rs1959002154
|
|
NM_000243.3(MEFV):c.1019G>A (p.Gly340Glu)
|
|
|
NM_000243.3(MEFV):c.1029G>T (p.Gln343His)
|
rs1959001872
|
|
NM_000243.3(MEFV):c.1030G>T (p.Ala344Ser)
|
|
|
NM_000243.3(MEFV):c.1034C>T (p.Ser345Leu)
|
|
|
NM_000243.3(MEFV):c.1075C>A (p.His359Asn)
|
rs2141671836
|
|
NM_000243.3(MEFV):c.1092G>A (p.Pro364=)
|
rs11466022
|
|
NM_000243.3(MEFV):c.1092G>T (p.Pro364=)
|
rs11466022
|
|
NM_000243.3(MEFV):c.10A>G (p.Thr4Ala)
|
|
|
NM_000243.3(MEFV):c.1105C>A (p.Pro369Thr)
|
rs11466023
|
|
NM_000243.3(MEFV):c.1108dup (p.Gln370fs)
|
rs1214124340
|
|
NM_000243.3(MEFV):c.1115T>C (p.Leu372Pro)
|
rs1218172738
|
|
NM_000243.3(MEFV):c.1117C>T (p.Pro373Ser)
|
rs1567234649
|
|
NM_000243.3(MEFV):c.1127A>G (p.Lys376Arg)
|
rs1009404209
|
|
NM_000243.3(MEFV):c.1129C>G (p.Arg377Gly)
|
rs896909303
|
|
NM_000243.3(MEFV):c.1141C>G (p.Gln381Glu)
|
|
|
NM_000243.3(MEFV):c.1141C>T (p.Gln381Ter)
|
|
|
NM_000243.3(MEFV):c.1143G>C (p.Gln381His)
|
|
|
NM_000243.3(MEFV):c.1151T>A (p.Leu384Gln)
|
rs139313647
|
|
NM_000243.3(MEFV):c.1207G>A (p.Glu403Lys)
|
|
|
NM_000243.3(MEFV):c.1212C>A (p.His404Gln)
|
rs561866815
|
|
NM_000243.3(MEFV):c.1223G>T (p.Arg408Leu)
|
rs11466024
|
|
NM_000243.3(MEFV):c.1252G>A (p.Glu418Lys)
|
rs1958996963
|
|
NM_000243.3(MEFV):c.1255C>A (p.His419Asn)
|
rs2141671598
|
|
NM_000243.3(MEFV):c.1261-10G>C
|
rs767528614
|
|
NM_000243.3(MEFV):c.1265A>G (p.Lys422Arg)
|
rs1958989238
|
|
NM_000243.3(MEFV):c.1267A>G (p.Ile423Val)
|
rs104895149
|
|
NM_000243.3(MEFV):c.1268T>G (p.Ile423Ser)
|
|
|
NM_000243.3(MEFV):c.1284G>T (p.Glu428Asp)
|
|
|
NM_000243.3(MEFV):c.1297C>G (p.Leu433Val)
|
rs1596354307
|
|
NM_000243.3(MEFV):c.1301_1302dup (p.Lys435fs)
|
rs2141671176
|
|
NM_000243.3(MEFV):c.1303A>C (p.Lys435Gln)
|
rs1958988591
|
|
NM_000243.3(MEFV):c.1308_1309del (p.Glu438fs)
|
|
|
NM_000243.3(MEFV):c.130C>T (p.Gln44Ter)
|
rs1172820862
|
|
NM_000243.3(MEFV):c.1318C>A (p.Gln440Lys)
|
|
|
NM_000243.3(MEFV):c.1318C>G (p.Gln440Glu)
|
rs11466026
|
|
NM_000243.3(MEFV):c.1327T>A (p.Tyr443Asn)
|
|
|
NM_000243.3(MEFV):c.1352T>G (p.Phe451Cys)
|
rs1958986915
|
|
NM_000243.3(MEFV):c.1368A>C (p.Glu456Asp)
|
rs1567233429
|
|
NM_000243.3(MEFV):c.1376A>C (p.Lys459Thr)
|
|
|
NM_000243.3(MEFV):c.1381C>T (p.Arg461Trp)
|
|
|
NM_000243.3(MEFV):c.1382G>C (p.Arg461Pro)
|
|
|
NM_000243.3(MEFV):c.1405G>T (p.Val469Leu)
|
rs104895173
|
|
NM_000243.3(MEFV):c.1412A>C (p.Tyr471Ser)
|
|
|
NM_000243.3(MEFV):c.1413C>A (p.Tyr471Ter)
|
rs104895207
|
|
NM_000243.3(MEFV):c.1428_1429delinsGA (p.Glu477Lys)
|
|
|
NM_000243.3(MEFV):c.1429G>A (p.Glu477Lys)
|
rs752413551
|
|
NM_000243.3(MEFV):c.1431G>T (p.Glu477Asp)
|
|
|
NM_000243.3(MEFV):c.1432C>T (p.His478Tyr)
|
rs104895105
|
|
NM_000243.3(MEFV):c.1437C>A (p.Phe479Leu)
|
|
|
NM_000243.3(MEFV):c.1437C>G (p.Phe479Leu)
|
rs104895083
|
|
NM_000243.3(MEFV):c.1441G>T (p.Val481Leu)
|
rs1487427766
|
|
NM_000243.3(MEFV):c.1459G>A (p.Val487Met)
|
rs104895100
|
|
NM_000243.3(MEFV):c.1463G>A (p.Gly488Asp)
|
rs1596352746
|
|
NM_000243.3(MEFV):c.1465C>T (p.Gln489Ter)
|
rs1958954245
|
|
NM_000243.3(MEFV):c.1469T>C (p.Met490Thr)
|
rs2141669073
|
|
NM_000243.3(MEFV):c.1499C>T (p.Thr500Ile)
|
|
|
NM_000243.3(MEFV):c.14dup (p.Pro5_Ser6insTer)
|
|
|
NM_000243.3(MEFV):c.1501C>G (p.Arg501Gly)
|
rs104895101
|
|
NM_000243.3(MEFV):c.1522C>T (p.Leu508=)
|
rs199937453
|
|
NM_000243.3(MEFV):c.1530T>A (p.Asp510Glu)
|
rs224206
|
|
NM_000243.3(MEFV):c.1541G>A (p.Gly514Glu)
|
rs104895168
|
|
NM_000243.3(MEFV):c.1552G>A (p.Ala518Thr)
|
rs2141668949
|
|
NM_000243.3(MEFV):c.1587+5G>A
|
rs1555458661
|
|
NM_000243.3(MEFV):c.1587+5G>T
|
rs1555458661
|
|
NM_000243.3(MEFV):c.1588-2A>G
|
|
|
NM_000243.3(MEFV):c.1610+5_1610+6insACCT
|
|
|
NM_000243.3(MEFV):c.1619_1620del (p.Thr540fs)
|
rs1958911254
|
|
NM_000243.3(MEFV):c.1622T>C (p.Val541Ala)
|
rs922232615
|
|
NM_000243.3(MEFV):c.1627G>C (p.Val543Leu)
|
rs1958911016
|
|
NM_000243.3(MEFV):c.1639T>C (p.Trp547Arg)
|
|
|
NM_000243.3(MEFV):c.163A>G (p.Thr55Ala)
|
|
|
NM_000243.3(MEFV):c.1648C>G (p.Pro550Ala)
|
rs2141666419
|
|
NM_000243.3(MEFV):c.1651C>G (p.Gln551Glu)
|
|
|
NM_000243.3(MEFV):c.1652A>G (p.Gln551Arg)
|
|
|
NM_000243.3(MEFV):c.1664A>C (p.Gln555Pro)
|
rs1958910539
|
|
NM_000243.3(MEFV):c.1668G>C (p.Lys556Asn)
|
rs1567232255
|
|
NM_000243.3(MEFV):c.1685A>G (p.Gln562Arg)
|
rs1033941048
|
|
NM_000243.3(MEFV):c.1694A>G (p.Glu565Gly)
|
|
|
NM_000243.3(MEFV):c.1730C>A (p.Thr577Asn)
|
rs1057516210
|
|
NM_000243.3(MEFV):c.1730C>G (p.Thr577Ser)
|
rs1057516210
|
|
NM_000243.3(MEFV):c.1730C>T (p.Thr577Ile)
|
rs1057516210
|
|
NM_000243.3(MEFV):c.1736G>A (p.Arg579His)
|
rs574055513
|
|
NM_000243.3(MEFV):c.1759+11C>T
|
rs370349451
|
|
NM_000243.3(MEFV):c.1759+1G>T
|
rs876660996
|
|
NM_000243.3(MEFV):c.1760-1G>T
|
|
|
NM_000243.3(MEFV):c.1773T>G (p.Ile591Met)
|
rs141706767
|
|
NM_000243.3(MEFV):c.1793-2A>C
|
rs2141665238
|
|
NM_000243.3(MEFV):c.181T>A (p.Tyr61Asn)
|
rs768043268
|
|
NM_000243.3(MEFV):c.182A>G (p.Tyr61Cys)
|
|
|
NM_000243.3(MEFV):c.1841C>T (p.Ser614Phe)
|
rs1332372034
|
|
NM_000243.3(MEFV):c.1846G>A (p.Asp616Asn)
|
|
|
NM_000243.3(MEFV):c.1854G>C (p.Lys618Asn)
|
rs766576175
|
|
NM_000243.3(MEFV):c.1895G>C (p.Gly632Ala)
|
rs967990798
|
|
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.1933T>C (p.Ser645Pro)
|
rs2141665051
|
|
NM_000243.3(MEFV):c.1942T>C (p.Phe648Leu)
|
rs2141665045
|
|
NM_000243.3(MEFV):c.1945C>G (p.Leu649Val)
|
rs2141665039
|
|
NM_000243.3(MEFV):c.1955G>A (p.Arg652His)
|
|
|
NM_000243.3(MEFV):c.1956C>A (p.Arg652=)
|
rs104895084
|
|
NM_000243.3(MEFV):c.1957C>A (p.Arg653Ser)
|
rs375716505
|
|
NM_000243.3(MEFV):c.1967A>C (p.Glu656Ala)
|
rs104895086
|
|
NM_000243.3(MEFV):c.1969G>A (p.Val657Met)
|
rs1958892149
|
|
NM_000243.3(MEFV):c.1969G>C (p.Val657Leu)
|
|
|
NM_000243.3(MEFV):c.196G>A (p.Ala66Thr)
|
|
|
NM_000243.3(MEFV):c.1991C>T (p.Ala664Val)
|
rs2141664988
|
|
NM_000243.3(MEFV):c.1A>C (p.Met1Leu)
|
|
|
NM_000243.3(MEFV):c.201_202delinsTT (p.Gln68Ter)
|
rs1959115695
|
|
NM_000243.3(MEFV):c.2020A>G (p.Ile674Val)
|
rs1958891209
|
|
NM_000243.3(MEFV):c.2024G>A (p.Ser675Asn)
|
rs104895087
|
|
NM_000243.3(MEFV):c.2032G>A (p.Gly678Arg)
|
rs771759703
|
|
NM_000243.3(MEFV):c.2038A>C (p.Met680Leu)
|
rs104895089
|
|
NM_000243.3(MEFV):c.2042C>T (p.Thr681Ile)
|
rs104895090
|
|
NM_000243.3(MEFV):c.2044_2045del (p.Leu682fs)
|
rs1355225244
|
|
NM_000243.3(MEFV):c.2055G>T (p.Glu685Asp)
|
rs375378545
|
|
NM_000243.3(MEFV):c.2060G>A (p.Gly687Asp)
|
rs387907570
|
|
NM_000243.3(MEFV):c.2064C>G (p.Tyr688Ter)
|
rs104895098
|
|
NM_000243.3(MEFV):c.2068G>A (p.Val690Met)
|
|
|
NM_000243.3(MEFV):c.2068G>C (p.Val690Leu)
|
rs1281153557
|
|
NM_000243.3(MEFV):c.2074_2076delinsGTG (p.Ile692Val)
|
rs1596350035
|
|
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.2080A>T (p.Met694Leu)
|
rs61752717
|
|
NM_000243.3(MEFV):c.2081T>A (p.Met694Lys)
|
rs1596350022
|
|
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.2089A>C (p.Asn697His)
|
|
|
NM_000243.3(MEFV):c.209C>G (p.Thr70Ser)
|
rs775224100
|
|
NM_000243.3(MEFV):c.2105C>G (p.Ser702Cys)
|
rs104895166
|
|
NM_000243.3(MEFV):c.2147A>T (p.Lys716Met)
|
rs1596349932
|
|
NM_000243.3(MEFV):c.2149C>A (p.Arg717Ser)
|
rs104895192
|
|
NM_000243.3(MEFV):c.2150G>A (p.Arg717His)
|
rs545517350
|
|
NM_000243.3(MEFV):c.2150G>T (p.Arg717Leu)
|
rs545517350
|
|
NM_000243.3(MEFV):c.2158A>G (p.Ile720Val)
|
rs1023300125
|
|
NM_000243.3(MEFV):c.2164G>C (p.Val722Leu)
|
|
|
NM_000243.3(MEFV):c.2164G>T (p.Val722Leu)
|
rs104895201
|
|
NM_000243.3(MEFV):c.2177T>G (p.Val726Gly)
|
|
|
NM_000243.3(MEFV):c.217G>A (p.Val73Ile)
|
rs2141679452
|
|
NM_000243.3(MEFV):c.2194T>C (p.Tyr732His)
|
|
|
NM_000243.3(MEFV):c.2204C>T (p.Thr735Ile)
|
rs1958885115
|
|
NM_000243.3(MEFV):c.2229C>G (p.Phe743Leu)
|
rs104895152
|
|
NM_000243.3(MEFV):c.2230G>A (p.Ala744Thr)
|
rs61732874
|
|
NM_000243.3(MEFV):c.2230G>C (p.Ala744Pro)
|
rs61732874
|
|
NM_000243.3(MEFV):c.2230G>T (p.Ala744Ser)
|
rs61732874
|
|
NM_000243.3(MEFV):c.2236T>G (p.Cys746Gly)
|
rs1407457811
|
|
NM_000243.3(MEFV):c.2246C>A (p.Ser749Tyr)
|
rs104895171
|
|
NM_000243.3(MEFV):c.2246C>G (p.Ser749Cys)
|
rs104895171
|
|
NM_000243.3(MEFV):c.2266_2267insGAAT (p.Phe756Ter)
|
|
|
NM_000243.3(MEFV):c.2271C>T (p.Ser757=)
|
rs772754956
|
|
NM_000243.3(MEFV):c.2281C>A (p.Arg761Ser)
|
rs774807554
|
|
NM_000243.3(MEFV):c.2287G>A (p.Gly763Arg)
|
rs2141664466
|
|
NM_000243.3(MEFV):c.2291G>C (p.Gly764Ala)
|
|
|
NM_000243.3(MEFV):c.2305C>G (p.Pro769Ala)
|
rs387907565
|
|
NM_000243.3(MEFV):c.2310_2313del (p.Thr771fs)
|
rs757708595
|
|
NM_000243.3(MEFV):c.2327G>C (p.Gly776Ala)
|
rs1479429941
|
|
NM_000243.3(MEFV):c.2329G>C (p.Gly777Arg)
|
|
|
NM_000243.3(MEFV):c.2330dup (p.Gln778fs)
|
rs1596349724
|
|
NM_000243.3(MEFV):c.2332C>T (p.Gln778Ter)
|
rs1366885918
|
|
NM_000243.3(MEFV):c.2333A>G (p.Gln778Arg)
|
rs2141664404
|
|
NM_000243.3(MEFV):c.243G>A (p.Leu81=)
|
rs1959114665
|
|
NM_000243.3(MEFV):c.250G>A (p.Glu84Lys)
|
rs150819742
|
|
NM_000243.3(MEFV):c.250G>C (p.Glu84Gln)
|
rs150819742
|
|
NM_000243.3(MEFV):c.252G>C (p.Glu84Asp)
|
|
|
NM_000243.3(MEFV):c.25C>T (p.Leu9=)
|
rs104895146
|
|
NM_000243.3(MEFV):c.261del (p.His87fs)
|
rs1959114310
|
|
NM_000243.3(MEFV):c.268G>C (p.Ala90Pro)
|
rs376971129
|
|
NM_000243.3(MEFV):c.268_271del (p.Ala90fs)
|
|
|
NM_000243.3(MEFV):c.277+1G>A
|
|
|
NM_000243.3(MEFV):c.277+1G>T
|
rs1328913013
|
|
NM_000243.3(MEFV):c.277+4A>C
|
|
|
NM_000243.3(MEFV):c.283T>C (p.Ser95Pro)
|
rs1463263180
|
|
NM_000243.3(MEFV):c.289C>A (p.Gln97Lys)
|
rs747515115
|
|
NM_000243.3(MEFV):c.298G>C (p.Gly100Arg)
|
rs772332566
|
|
NM_000243.3(MEFV):c.322A>C (p.Ser108Arg)
|
rs104895103
|
|
NM_000243.3(MEFV):c.326C>T (p.Ser109Phe)
|
|
|
NM_000243.3(MEFV):c.330G>A (p.Leu110=)
|
rs104895177
|
|
NM_000243.3(MEFV):c.334G>A (p.Glu112Lys)
|
rs1185925415
|
|
NM_000243.3(MEFV):c.340A>C (p.Lys114Gln)
|
rs1252844849
|
|
NM_000243.3(MEFV):c.340A>G (p.Lys114Glu)
|
rs1252844849
|
|
NM_000243.3(MEFV):c.342G>A (p.Lys114=)
|
rs981883034
|
|
NM_000243.3(MEFV):c.343C>A (p.Pro115Thr)
|
rs147557169
|
|
NM_000243.3(MEFV):c.343C>T (p.Pro115Ser)
|
|
|
NM_000243.3(MEFV):c.357G>C (p.Lys119Asn)
|
rs1000657059
|
|
NM_000243.3(MEFV):c.35C>T (p.Thr12Ile)
|
|
|
NM_000243.3(MEFV):c.367C>G (p.His123Asp)
|
rs1959090836
|
|
NM_000243.3(MEFV):c.368A>T (p.His123Leu)
|
rs774737550
|
|
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.377G>A (p.Gly126Glu)
|
|
|
NM_000243.3(MEFV):c.378G>T (p.Gly126=)
|
rs777867857
|
|
NM_000243.3(MEFV):c.380A>G (p.Asn127Ser)
|
rs1471371733
|
|
NM_000243.3(MEFV):c.382G>A (p.Glu128Lys)
|
|
|
NM_000243.3(MEFV):c.383A>T (p.Glu128Val)
|
rs201172310
|
|
NM_000243.3(MEFV):c.385G>A (p.Gly129Arg)
|
rs1344302872
|
|
NM_000243.3(MEFV):c.390C>A (p.Asn130Lys)
|
|
|
NM_000243.3(MEFV):c.390C>G (p.Asn130Lys)
|
rs780976880
|
|
NM_000243.3(MEFV):c.390C>T (p.Asn130=)
|
rs780976880
|
|
NM_000243.3(MEFV):c.392G>A (p.Gly131Asp)
|
rs1959090165
|
|
NM_000243.3(MEFV):c.397C>A (p.Arg133=)
|
rs1206762845
|
|
NM_000243.3(MEFV):c.398G>T (p.Arg133Leu)
|
rs1959090017
|
|
NM_000243.3(MEFV):c.405C>G (p.Tyr135Ter)
|
rs766323718
|
|
NM_000243.3(MEFV):c.407G>A (p.Gly136Glu)
|
rs876660989
|
|
NM_000243.3(MEFV):c.409G>A (p.Gly137Ser)
|
rs895839095
|
|
NM_000243.3(MEFV):c.410del (p.Gly137fs)
|
rs767006697
|
|
NM_000243.3(MEFV):c.411_412insT (p.Gly138fs)
|
rs758874425
|
|
NM_000243.3(MEFV):c.414A>T (p.Gly138=)
|
rs224224
|
|
NM_000243.3(MEFV):c.414_415delinsGT (p.Ala139Ser)
|
rs1567237666
|
|
NM_000243.3(MEFV):c.428G>C (p.Arg143Pro)
|
rs104895190
|
|
NM_000243.3(MEFV):c.433A>C (p.Ser145Arg)
|
rs2141677519
|
|
NM_000243.3(MEFV):c.434G>C (p.Ser145Thr)
|
rs1342434040
|
|
NM_000243.3(MEFV):c.436C>T (p.Gln146Ter)
|
rs876660990
|
|
NM_000243.3(MEFV):c.439C>G (p.Pro147Ala)
|
rs876660991
|
|
NM_000243.3(MEFV):c.442G>A (p.Glu148Lys)
|
rs3743930
|
|
NM_000243.3(MEFV):c.450del (p.Arg151fs)
|
rs2141677468
|
|
NM_000243.3(MEFV):c.451A>T (p.Arg151Trp)
|
|
|
NM_000243.3(MEFV):c.454G>C (p.Gly152Arg)
|
rs1266119651
|
|
NM_000243.3(MEFV):c.455G>C (p.Gly152Ala)
|
|
|
NM_000243.3(MEFV):c.464G>C (p.Arg155Thr)
|
rs483353017
|
|
NM_000243.3(MEFV):c.481C>G (p.Arg161Gly)
|
|
|
NM_000243.3(MEFV):c.488A>C (p.Glu163Ala)
|
rs104895106
|
|
NM_000243.3(MEFV):c.490A>T (p.Lys164Ter)
|
rs1306636942
|
|
NM_000243.3(MEFV):c.497C>T (p.Ser166Leu)
|
rs766670643
|
|
NM_000243.3(MEFV):c.511G>A (p.Ala171Thr)
|
rs876660993
|
|
NM_000243.3(MEFV):c.523C>T (p.Pro175Ser)
|
|
|
NM_000243.3(MEFV):c.532C>T (p.Arg178Trp)
|
rs1555459404
|
|
NM_000243.3(MEFV):c.536G>T (p.Ser179Ile)
|
rs104895125
|
|
NM_000243.3(MEFV):c.539C>A (p.Pro180Gln)
|
rs104895134
|
|
NM_000243.3(MEFV):c.539C>G (p.Pro180Arg)
|
rs104895134
|
|
NM_000243.3(MEFV):c.547C>A (p.Pro183Thr)
|
rs202196752
|
|
NM_000243.3(MEFV):c.547C>T (p.Pro183Ser)
|
|
|
NM_000243.3(MEFV):c.548C>G (p.Pro183Arg)
|
|
|
NM_000243.3(MEFV):c.548C>T (p.Pro183Leu)
|
rs777009752
|
|
NM_000243.3(MEFV):c.564C>G (p.Pro188=)
|
rs775755423
|
|
NM_000243.3(MEFV):c.564C>T (p.Pro188=)
|
rs775755423
|
|
NM_000243.3(MEFV):c.565_570dup (p.Gly189_Pro190dup)
|
rs761993422
|
|
NM_000243.3(MEFV):c.568C>T (p.Pro190Ser)
|
rs1959085571
|
|
NM_000243.3(MEFV):c.577G>A (p.Ala193Thr)
|
rs876660994
|
|
NM_000243.3(MEFV):c.585G>A (p.Glu195=)
|
rs200766991
|
|
NM_000243.3(MEFV):c.585G>C (p.Glu195Asp)
|
rs200766991
|
|
NM_000243.3(MEFV):c.585G>T (p.Glu195Asp)
|
rs200766991
|
|
NM_000243.3(MEFV):c.586G>A (p.Gly196Arg)
|
rs104895179
|
|
NM_000243.3(MEFV):c.586G>C (p.Gly196Arg)
|
rs104895179
|
|
NM_000243.3(MEFV):c.586G>T (p.Gly196Trp)
|
rs104895179
|
|
NM_000243.3(MEFV):c.587G>C (p.Gly196Ala)
|
|
|
NM_000243.3(MEFV):c.597dup (p.Glu200fs)
|
rs1567237352
|
|
NM_000243.3(MEFV):c.5C>G (p.Ala2Gly)
|
rs200148051
|
|
NM_000243.3(MEFV):c.606_621dup (p.Ser208fs)
|
rs104895180
|
|
NM_000243.3(MEFV):c.611G>T (p.Arg204Leu)
|
rs775663363
|
|
NM_000243.3(MEFV):c.619G>T (p.Ala207Ser)
|
rs1386104492
|
|
NM_000243.3(MEFV):c.61T>C (p.Phe21Leu)
|
|
|
NM_000243.3(MEFV):c.623G>C (p.Ser208Thr)
|
rs759326778
|
|
NM_000243.3(MEFV):c.629C>G (p.Ala210Gly)
|
|
|
NM_000243.3(MEFV):c.638T>C (p.Leu213Pro)
|
|
|
NM_000243.3(MEFV):c.63C>A (p.Phe21Leu)
|
|
|
NM_000243.3(MEFV):c.656dup (p.Ala220fs)
|
rs774061491
|
|
NM_000243.3(MEFV):c.65del (p.Glu22fs)
|
rs747811800
|
|
NM_000243.3(MEFV):c.664G>C (p.Gly222Arg)
|
rs772938936
|
|
NM_000243.3(MEFV):c.682C>T (p.Pro228Ser)
|
rs1596358139
|
|
NM_000243.3(MEFV):c.683C>T (p.Pro228Leu)
|
|
|
NM_000243.3(MEFV):c.686T>G (p.Phe229Cys)
|
rs1959082299
|
|
NM_000243.3(MEFV):c.688G>C (p.Glu230Gln)
|
rs104895080
|
|
NM_000243.3(MEFV):c.688G>T (p.Glu230Ter)
|
rs104895080
|
|
NM_000243.3(MEFV):c.711G>T (p.Lys237Asn)
|
rs1053594972
|
|
NM_000243.3(MEFV):c.718C>G (p.Pro240Ala)
|
|
|
NM_000243.3(MEFV):c.718C>T (p.Pro240Ser)
|
rs1310144955
|
|
NM_000243.3(MEFV):c.721A>G (p.Arg241Gly)
|
|
|
NM_000243.3(MEFV):c.726C>G (p.Ser242Arg)
|
rs104895127
|
|
NM_000243.3(MEFV):c.728T>C (p.Leu243Pro)
|
|
|
NM_000243.3(MEFV):c.739A>G (p.Ile247Val)
|
rs1472692347
|
|
NM_000243.3(MEFV):c.744_745delinsCT (p.Thr249Ser)
|
rs2141676883
|
|
NM_000243.3(MEFV):c.749G>C (p.Gly250Ala)
|
|
|
NM_000243.3(MEFV):c.74A>G (p.Lys25Arg)
|
|
|
NM_000243.3(MEFV):c.751G>A (p.Glu251Lys)
|
rs104895111
|
|
NM_000243.3(MEFV):c.760C>T (p.Pro254Ser)
|
|
|
NM_000243.3(MEFV):c.761_764dup (p.Asn256fs)
|
rs104895138
|
|
NM_000243.3(MEFV):c.766A>G (p.Asn256Asp)
|
rs1567237118
|
|
NM_000243.3(MEFV):c.778C>A (p.Leu260Ile)
|
|
|
NM_000243.3(MEFV):c.790G>A (p.Glu264Lys)
|
rs1332262848
|
|
NM_000243.3(MEFV):c.799A>T (p.Thr267Ser)
|
|
|
NM_000243.3(MEFV):c.803C>A (p.Ala268Asp)
|
rs104895123
|
|
NM_000243.3(MEFV):c.803C>T (p.Ala268Val)
|
rs104895123
|
|
NM_000243.3(MEFV):c.826G>T (p.Glu276Ter)
|
rs876660995
|
|
NM_000243.3(MEFV):c.833G>C (p.Arg278Pro)
|
rs104895187
|
|
NM_000243.3(MEFV):c.836C>T (p.Ala279Val)
|
rs1596357961
|
|
NM_000243.3(MEFV):c.847C>G (p.Pro283Ala)
|
|
|
NM_000243.3(MEFV):c.848C>G (p.Pro283Arg)
|
rs104895119
|
|
NM_000243.3(MEFV):c.854G>C (p.Gly285Ala)
|
|
|
NM_000243.3(MEFV):c.857G>C (p.Gly286Ala)
|
rs1959078224
|
|
NM_000243.3(MEFV):c.866C>A (p.Ala289Glu)
|
rs104895132
|
|
NM_000243.3(MEFV):c.868G>A (p.Asp290Asn)
|
|
|
NM_000243.3(MEFV):c.881G>T (p.Gly294Val)
|
rs1959077891
|
|
NM_000243.3(MEFV):c.884dup (p.Gly296fs)
|
rs1301893365
|
|
NM_000243.3(MEFV):c.896A>G (p.Glu299Gly)
|
rs104895167
|
|
NM_000243.3(MEFV):c.908C>T (p.Thr303Ile)
|
|
|
NM_000243.3(MEFV):c.909C>A (p.Thr303=)
|
rs1429025477
|
|
NM_000243.3(MEFV):c.911-8G>A
|
rs2141672126
|
|
NM_000243.3(MEFV):c.916C>G (p.Pro306Ala)
|
|
|
NM_000243.3(MEFV):c.916C>T (p.Pro306Ser)
|
rs906390314
|
|
NM_000243.3(MEFV):c.920C>G (p.Pro307Arg)
|
rs1396233356
|
|
NM_000243.3(MEFV):c.933G>A (p.Ala311=)
|
rs774547197
|
|
NM_000243.3(MEFV):c.941_942delinsAT (p.Arg314His)
|
rs1085307824
|
|
NM_000243.3(MEFV):c.943T>C (p.Cys315Arg)
|
|
|
NM_000243.3(MEFV):c.949G>A (p.Ala317Thr)
|
|
|
NM_000243.3(MEFV):c.94A>T (p.Ser32Cys)
|
rs1959117976
|
|
NM_000243.3(MEFV):c.963C>A (p.Asp321Glu)
|
rs771969495
|
|
NM_000243.3(MEFV):c.965C>G (p.Pro322Arg)
|
|
|
NM_000243.3(MEFV):c.967G>C (p.Val323Leu)
|
|
|
NM_000243.3(MEFV):c.973G>C (p.Gly325Arg)
|
rs146862274
|
|
NM_000246.4(CIITA):c.174A>T (p.Gly58=)
|
rs759412177
|
|
NM_000246.4(CIITA):c.2113G>A (p.Glu705Lys)
|
rs143304499
|
|
NM_000246.4(CIITA):c.2113G>C (p.Glu705Gln)
|
rs143304499
|
|
NM_000246.4(CIITA):c.2515C>G (p.Arg839Gly)
|
rs1175375174
|
|
NM_000246.4(CIITA):c.673G>A (p.Gly225Arg)
|
|
|
NM_000246.4(CIITA):c.929A>T (p.Asn310Ile)
|
rs1567409783
|
|
NM_000246.4(CIITA):c.965C>T (p.Pro322Leu)
|
rs74806537
|
|
NM_000264.5(PTCH1):c.113G>A (p.Gly38Glu)
|
rs143494325
|
|
NM_000288.4(PEX7):c.236A>G (p.Asn79Ser)
|
rs2115131862
|
|
NM_000302.4(PLOD1):c.*117A>G
|
rs886045210
|
|
NM_000302.4(PLOD1):c.*276T>C
|
rs886045212
|
|
NM_000302.4(PLOD1):c.*308C>G
|
rs886045213
|
|
NM_000302.4(PLOD1):c.*419C>T
|
rs886045214
|
|
NM_000302.4(PLOD1):c.*461G>T
|
rs1271843257
|
|
NM_000302.4(PLOD1):c.*61T>C
|
rs886045209
|
|
NM_000302.4(PLOD1):c.-61C>T
|
rs566803699
|
|
NM_000302.4(PLOD1):c.-9_2del (p.Met1fs)
|
rs747037908
|
|
NM_000302.4(PLOD1):c.1031A>G (p.Tyr344Cys)
|
|
|
NM_000302.4(PLOD1):c.1099G>T (p.Asp367Tyr)
|
rs2100756894
|
|
NM_000302.4(PLOD1):c.1108C>T (p.Arg370Trp)
|
rs763065699
|
|
NM_000302.4(PLOD1):c.1133A>T (p.Tyr378Phe)
|
rs749210400
|
|
NM_000302.4(PLOD1):c.1141G>T (p.Val381Leu)
|
rs2230896
|
|
NM_000302.4(PLOD1):c.1145A>C (p.Asp382Ala)
|
rs998178222
|
|
NM_000302.4(PLOD1):c.1145A>G (p.Asp382Gly)
|
rs998178222
|
|
NM_000302.4(PLOD1):c.1216C>G (p.Pro406Ala)
|
rs760764359
|
|
NM_000302.4(PLOD1):c.1216C>T (p.Pro406Ser)
|
rs760764359
|
|
NM_000302.4(PLOD1):c.1229G>A (p.Arg410Gln)
|
rs371001571
|
|
NM_000302.4(PLOD1):c.1235G>A (p.Gly412Glu)
|
rs2100757756
|
|
NM_000302.4(PLOD1):c.1246T>C (p.Ser416Pro)
|
rs1569721294
|
|
NM_000302.4(PLOD1):c.125G>A (p.Arg42His)
|
rs202116614
|
|
NM_000302.4(PLOD1):c.1289G>A (p.Arg430His)
|
|
|
NM_000302.4(PLOD1):c.1304T>C (p.Val435Ala)
|
rs1645800221
|
|
NM_000302.4(PLOD1):c.1319G>T (p.Gly440Val)
|
|
|
NM_000302.4(PLOD1):c.1322G>A (p.Arg441Gln)
|
rs934141011
|
|
NM_000302.4(PLOD1):c.1327G>T (p.Val443Phe)
|
rs1445338657
|
|
NM_000302.4(PLOD1):c.1334T>G (p.Val445Gly)
|
rs922997919
|
|
NM_000302.4(PLOD1):c.1349A>G (p.Tyr450Cys)
|
rs1264798278
|
|
NM_000302.4(PLOD1):c.1391G>T (p.Gly464Val)
|
rs1645803161
|
|
NM_000302.4(PLOD1):c.1397T>G (p.Leu466Arg)
|
|
|
NM_000302.4(PLOD1):c.1430T>C (p.Leu477Pro)
|
rs2100758364
|
|
NM_000302.4(PLOD1):c.1441A>G (p.Met481Val)
|
rs2100758386
|
|
NM_000302.4(PLOD1):c.1451G>C (p.Cys484Ser)
|
rs1490187110
|
|
NM_000302.4(PLOD1):c.1463G>A (p.Arg488Gln)
|
|
|
NM_000302.4(PLOD1):c.1469A>G (p.Gln490Arg)
|
rs1156431423
|
|
NM_000302.4(PLOD1):c.1470+5G>A
|
rs1553136223
|
|
NM_000302.4(PLOD1):c.1471-14C>T
|
rs2100759144
|
|
NM_000302.4(PLOD1):c.1471-9C>A
|
rs376476977
|
|
NM_000302.4(PLOD1):c.1471G>A (p.Asp491Asn)
|
rs1283020139
|
|
NM_000302.4(PLOD1):c.1472A>G (p.Asp491Gly)
|
rs2100759169
|
|
NM_000302.4(PLOD1):c.1477T>A (p.Phe493Ile)
|
rs750942824
|
|
NM_000302.4(PLOD1):c.1490C>G (p.Thr497Ser)
|
|
|
NM_000302.4(PLOD1):c.1494C>G (p.Asn498Lys)
|
rs1645810603
|
|
NM_000302.4(PLOD1):c.1511_1513del (p.His504del)
|
rs2100759209
|
|
NM_000302.4(PLOD1):c.1550A>C (p.His517Pro)
|
|
|
NM_000302.4(PLOD1):c.1567G>T (p.Val523Leu)
|
rs1429074293
|
|
NM_000302.4(PLOD1):c.1578C>A (p.Asn526Lys)
|
rs758701213
|
|
NM_000302.4(PLOD1):c.1633G>A (p.Gly545Arg)
|
rs886045204
|
|
NM_000302.4(PLOD1):c.1651-2A>C
|
rs565513365
|
|
NM_000302.4(PLOD1):c.1651C>T (p.Pro551Ser)
|
rs1324129456
|
|
NM_000302.4(PLOD1):c.1657C>G (p.Pro553Ala)
|
|
|
NM_000302.4(PLOD1):c.1686G>A (p.Thr562=)
|
rs565216977
|
|
NM_000302.4(PLOD1):c.169-11T>C
|
rs760584840
|
|
NM_000302.4(PLOD1):c.1697G>T (p.Cys566Phe)
|
rs377325169
|
|
NM_000302.4(PLOD1):c.1702G>A (p.Glu568Lys)
|
rs761949919
|
|
NM_000302.4(PLOD1):c.1706T>A (p.Leu569Gln)
|
rs773547480
|
|
NM_000302.4(PLOD1):c.1706T>C (p.Leu569Pro)
|
|
|
NM_000302.4(PLOD1):c.170C>T (p.Ala57Val)
|
rs753862253
|
|
NM_000302.4(PLOD1):c.1718T>C (p.Met573Thr)
|
rs1645823972
|
|
NM_000302.4(PLOD1):c.1730G>A (p.Gly577Asp)
|
rs1331435501
|
|
NM_000302.4(PLOD1):c.1741C>G (p.Leu581Val)
|
|
|
NM_000302.4(PLOD1):c.1756-13C>A
|
|
|
NM_000302.4(PLOD1):c.1756-20T>G
|
rs1310114003
|
|
NM_000302.4(PLOD1):c.1756G>C (p.Asp586His)
|
|
|
NM_000302.4(PLOD1):c.1762C>T (p.Arg588Cys)
|
|
|
NM_000302.4(PLOD1):c.1763G>T (p.Arg588Leu)
|
rs755346019
|
|
NM_000302.4(PLOD1):c.1769A>C (p.Gln590Pro)
|
rs2100764621
|
|
NM_000302.4(PLOD1):c.176G>C (p.Gly59Ala)
|
rs138106022
|
|
NM_000302.4(PLOD1):c.1781A>G (p.Glu594Gly)
|
|
|
NM_000302.4(PLOD1):c.1785C>A (p.Asn595Lys)
|
rs771350321
|
|
NM_000302.4(PLOD1):c.1806C>G (p.His602Gln)
|
|
|
NM_000302.4(PLOD1):c.1819G>A (p.Gly607Ser)
|
|
|
NM_000302.4(PLOD1):c.1839C>A (p.His613Gln)
|
rs768638113
|
|
NM_000302.4(PLOD1):c.1871C>T (p.Thr624Met)
|
rs760314787
|
|
NM_000302.4(PLOD1):c.1885C>G (p.Pro629Ala)
|
rs920188548
|
|
NM_000302.4(PLOD1):c.1889G>A (p.Gly630Asp)
|
rs1645857603
|
|
NM_000302.4(PLOD1):c.1892A>G (p.Tyr631Cys)
|
rs752084194
|
|
NM_000302.4(PLOD1):c.1902+3G>A
|
rs1645857795
|
|
NM_000302.4(PLOD1):c.1930del (p.Arg644fs)
|
rs1557501741
|
|
NM_000302.4(PLOD1):c.1996A>G (p.Ile666Val)
|
|
|
NM_000302.4(PLOD1):c.2041C>T (p.Arg681Trp)
|
rs1281801241
|
|
NM_000302.4(PLOD1):c.2051G>C (p.Arg684Pro)
|
|
|
NM_000302.4(PLOD1):c.2058C>G (p.Asn686Lys)
|
rs1010336383
|
|
NM_000302.4(PLOD1):c.2060G>C (p.Cys687Ser)
|
rs2100768765
|
|
NM_000302.4(PLOD1):c.2068_2069delinsGT (p.Arg690Val)
|
rs1553137685
|
|
NM_000302.4(PLOD1):c.2069G>A (p.Arg690Gln)
|
rs886045208
|
|
NM_000302.4(PLOD1):c.2082G>C (p.Lys694Asn)
|
rs1645891475
|
|
NM_000302.4(PLOD1):c.2119T>C (p.Tyr707His)
|
rs1645892067
|
|
NM_000302.4(PLOD1):c.212C>T (p.Ser71Leu)
|
rs2100743367
|
|
NM_000302.4(PLOD1):c.215C>T (p.Ala72Val)
|
rs2100743381
|
|
NM_000302.4(PLOD1):c.2161G>A (p.Ala721Thr)
|
|
|
NM_000302.4(PLOD1):c.2161G>T (p.Ala721Ser)
|
rs781689639
|
|
NM_000302.4(PLOD1):c.2164del (p.Val722fs)
|
rs1645892679
|
|
NM_000302.4(PLOD1):c.2170_2172del (p.Phe724del)
|
rs1310692062
|
|
NM_000302.4(PLOD1):c.2173G>A (p.Val725Ile)
|
rs151247380
|
|
NM_000302.4(PLOD1):c.2173G>C (p.Val725Leu)
|
rs151247380
|
|
NM_000302.4(PLOD1):c.2178T>A (p.Asp726Glu)
|
|
|
NM_000302.4(PLOD1):c.218G>T (p.Gly73Val)
|
rs1034357016
|
|
NM_000302.4(PLOD1):c.224G>A (p.Gly75Glu)
|
|
|
NM_000302.4(PLOD1):c.232G>T (p.Val78Phe)
|
rs1306060482
|
|
NM_000302.4(PLOD1):c.235C>T (p.Arg79Trp)
|
rs886045200
|
|
NM_000302.4(PLOD1):c.241C>G (p.Leu81Val)
|
rs1348207190
|
|
NM_000302.4(PLOD1):c.262C>G (p.His88Asp)
|
rs1645686634
|
|
NM_000302.4(PLOD1):c.280C>G (p.Leu94Val)
|
|
|
NM_000302.4(PLOD1):c.286A>T (p.Ile96Phe)
|
rs763494719
|
|
NM_000302.4(PLOD1):c.290T>G (p.Leu97Arg)
|
|
|
NM_000302.4(PLOD1):c.302+3_302+6del
|
rs2100743549
|
|
NM_000302.4(PLOD1):c.302+5G>C
|
rs749607584
|
|
NM_000302.4(PLOD1):c.314T>A (p.Leu105Gln)
|
rs1553133902
|
|
NM_000302.4(PLOD1):c.315_317del (p.Phe106del)
|
rs770511543
|
|
NM_000302.4(PLOD1):c.323C>T (p.Ser108Leu)
|
rs549517196
|
|
NM_000302.4(PLOD1):c.332G>A (p.Arg111Gln)
|
|
|
NM_000302.4(PLOD1):c.354_355delinsAA (p.Gln119Lys)
|
rs1645691095
|
|
NM_000302.4(PLOD1):c.364A>T (p.Ser122Cys)
|
|
|
NM_000302.4(PLOD1):c.369G>C (p.Gln123His)
|
rs1645691361
|
|
NM_000302.4(PLOD1):c.373G>A (p.Val125Ile)
|
rs984869224
|
|
NM_000302.4(PLOD1):c.376T>C (p.Phe126Leu)
|
rs144702307
|
|
NM_000302.4(PLOD1):c.391C>T (p.Leu131Phe)
|
|
|
NM_000302.4(PLOD1):c.428C>T (p.Pro143Leu)
|
|
|
NM_000302.4(PLOD1):c.466+65C>A
|
|
|
NM_000302.4(PLOD1):c.475G>C (p.Gly159Arg)
|
|
|
NM_000302.4(PLOD1):c.479A>G (p.Tyr160Cys)
|
|
|
NM_000302.4(PLOD1):c.481G>A (p.Ala161Thr)
|
rs1553134244
|
|
NM_000302.4(PLOD1):c.4C>T (p.Arg2Trp)
|
rs1402614845
|
|
NM_000302.4(PLOD1):c.524A>G (p.Asp175Gly)
|
|
|
NM_000302.4(PLOD1):c.526A>G (p.Ser176Gly)
|
rs1569694008
|
|
NM_000302.4(PLOD1):c.534C>A (p.Ser178Arg)
|
rs113384442
|
|
NM_000302.4(PLOD1):c.535G>A (p.Asp179Asn)
|
rs188165334
|
|
NM_000302.4(PLOD1):c.535G>C (p.Asp179His)
|
rs188165334
|
|
NM_000302.4(PLOD1):c.539A>G (p.Gln180Arg)
|
|
|
NM_000302.4(PLOD1):c.554A>G (p.Lys185Arg)
|
rs2100746537
|
|
NM_000302.4(PLOD1):c.556A>G (p.Ile186Val)
|
rs886045201
|
|
NM_000302.4(PLOD1):c.563T>G (p.Leu188Trp)
|
rs1645711960
|
|
NM_000302.4(PLOD1):c.567_572del (p.Asp189_Pro190del)
|
rs775053632
|
|
NM_000302.4(PLOD1):c.569C>G (p.Pro190Arg)
|
rs375416784
|
|
NM_000302.4(PLOD1):c.577A>C (p.Arg193=)
|
rs569590633
|
|
NM_000302.4(PLOD1):c.579+3A>C
|
rs1645712158
|
|
NM_000302.4(PLOD1):c.579G>A (p.Arg193=)
|
rs1553134266
|
|
NM_000302.4(PLOD1):c.613C>G (p.Arg205Gly)
|
|
|
NM_000302.4(PLOD1):c.613C>T (p.Arg205Cys)
|
rs199990859
|
|
NM_000302.4(PLOD1):c.622C>T (p.Gln208Ter)
|
rs1557490038
|
|
NM_000302.4(PLOD1):c.62A>G (p.Asp21Gly)
|
|
|
NM_000302.4(PLOD1):c.63C>G (p.Asp21Glu)
|
rs1645566854
|
|
NM_000302.4(PLOD1):c.644-19T>C
|
|
|
NM_000302.4(PLOD1):c.652G>A (p.Val218Met)
|
rs372534520
|
|
NM_000302.4(PLOD1):c.656T>C (p.Leu219Pro)
|
rs1392799816
|
|
NM_000302.4(PLOD1):c.674A>G (p.His225Arg)
|
rs1176136454
|
|
NM_000302.4(PLOD1):c.704C>A (p.Thr235Asn)
|
rs1645742510
|
|
NM_000302.4(PLOD1):c.704C>T (p.Thr235Ile)
|
|
|
NM_000302.4(PLOD1):c.71C>T (p.Pro24Leu)
|
rs1438879558
|
|
NM_000302.4(PLOD1):c.723T>G (p.His241Gln)
|
rs2100750549
|
|
NM_000302.4(PLOD1):c.736A>T (p.Thr246Ser)
|
|
|
NM_000302.4(PLOD1):c.742C>T (p.Leu248=)
|
|
|
NM_000302.4(PLOD1):c.74A>C (p.Glu25Ala)
|
rs774044489
|
|
NM_000302.4(PLOD1):c.757C>G (p.Leu253Val)
|
rs2100751390
|
|
NM_000302.4(PLOD1):c.77-3403T>C
|
rs1645637106
|
|
NM_000302.4(PLOD1):c.775C>T (p.Arg259Cys)
|
rs1181531160
|
|
NM_000302.4(PLOD1):c.803C>A (p.Thr268Asn)
|
rs2100751465
|
|
NM_000302.4(PLOD1):c.80A>G (p.Asn27Ser)
|
rs2100741705
|
|
NM_000302.4(PLOD1):c.814G>A (p.Glu272Lys)
|
rs1267512667
|
|
NM_000302.4(PLOD1):c.844-3C>G
|
rs2100752095
|
|
NM_000302.4(PLOD1):c.872G>A (p.Gly291Asp)
|
rs1394486748
|
|
NM_000302.4(PLOD1):c.874G>C (p.Val292Leu)
|
rs143114026
|
|
NM_000302.4(PLOD1):c.89T>C (p.Val30Ala)
|
rs777178486
|
|
NM_000302.4(PLOD1):c.931C>T (p.Leu311Phe)
|
rs1438781151
|
|
NM_000302.4(PLOD1):c.941C>T (p.Pro314Leu)
|
rs1645756307
|
|
NM_000302.4(PLOD1):c.949C>A (p.His317Asn)
|
rs1287367993
|
|
NM_000302.4(PLOD1):c.949C>G (p.His317Asp)
|
|
|
NM_000302.4(PLOD1):c.951C>G (p.His317Gln)
|
rs770032875
|
|
NM_000302.4(PLOD1):c.965T>A (p.Ile322Asn)
|
rs1553135172
|
|
NM_000302.4(PLOD1):c.976-3C>T
|
rs1198690797
|
|
NM_000302.4(PLOD1):c.976-6C>A
|
rs200825919
|
|
NM_000302.4(PLOD1):c.976-7_976-2dup
|
|
|
NM_000316.3(PTH1R):c.1393G>A (p.Glu465Lys)
|
rs1683106396
|
|
NM_000316.3(PTH1R):c.830G>T (p.Gly277Val)
|
rs757961321
|
|
NM_000316.3(PTH1R):c.834+14_834+46del
|
rs768888196
|
|
NM_000321.3(RB1):c.1376C>T (p.Ser459Phe)
|
rs1593455667
|
|
NM_000321.3(RB1):c.276T>G (p.Ile92Met)
|
rs1555282772
|
|
NM_000346.4(SOX9):c.1095_1115del (p.364AAPPQQP[1])
|
rs765759003
|
|
NM_000346.4(SOX9):c.320G>A (p.Arg107Gln)
|
rs2143239870
|
|
NM_000346.4(SOX9):c.432-3C>A
|
rs1033320617
|
|
NM_000368.5(TSC1):c.359T>C (p.Leu120Pro)
|
rs1554820262
|
|
NM_000388.4(CASR):c.*1011T>A
|
rs922763349
|
|
NM_000388.4(CASR):c.*640G>T
|
rs201855028
|
|
NM_000388.4(CASR):c.*790T>C
|
rs886057834
|
|
NM_000388.4(CASR):c.-137C>A
|
rs201074178
|
|
NM_000388.4(CASR):c.1132G>A (p.Glu378Lys)
|
rs201338034
|
|
NM_000388.4(CASR):c.1163C>G (p.Ser388Trp)
|
rs377282860
|
|
NM_000388.4(CASR):c.1287C>A (p.His429Gln)
|
rs746515147
|
|
NM_000388.4(CASR):c.1307C>G (p.Thr436Ser)
|
rs1553766916
|
|
NM_000388.4(CASR):c.130G>A (p.Val44Ile)
|
rs2074530467
|
|
NM_000388.4(CASR):c.1354A>G (p.Ile452Val)
|
rs756206452
|
|
NM_000388.4(CASR):c.1390C>G (p.Leu464Val)
|
rs778165189
|
|
NM_000388.4(CASR):c.1425G>T (p.Glu475Asp)
|
rs2107643445
|
|
NM_000388.4(CASR):c.1498G>A (p.Asp500Asn)
|
rs1156349993
|
|
NM_000388.4(CASR):c.1622A>G (p.Asn541Ser)
|
rs201202700
|
|
NM_000388.4(CASR):c.1665T>C (p.Ile555=)
|
rs201955278
|
|
NM_000388.4(CASR):c.1820C>T (p.Ser607Leu)
|
rs1052956823
|
|
NM_000388.4(CASR):c.183C>T (p.Ile61=)
|
rs2074531684
|
|
NM_000388.4(CASR):c.1842C>G (p.Ile614Met)
|
rs199513106
|
|
NM_000388.4(CASR):c.1853T>G (p.Leu618Arg)
|
rs2107649522
|
|
NM_000388.4(CASR):c.2056A>G (p.Ile686Val)
|
rs753013993
|
|
NM_000388.4(CASR):c.2099A>G (p.Asn700Ser)
|
rs1576877437
|
|
NM_000388.4(CASR):c.2101C>A (p.Arg701Ser)
|
rs757302986
|
|
NM_000388.4(CASR):c.2213T>C (p.Ile738Thr)
|
rs759337909
|
|
NM_000388.4(CASR):c.2339C>G (p.Thr780Ser)
|
rs754332943
|
|
NM_000388.4(CASR):c.2339C>T (p.Thr780Ile)
|
rs754332943
|
|
NM_000388.4(CASR):c.2503G>A (p.Ala835Thr)
|
rs2074939751
|
|
NM_000388.4(CASR):c.2549C>G (p.Ala850Gly)
|
rs373819680
|
|
NM_000388.4(CASR):c.2570T>A (p.Ile857Asn)
|
rs766445416
|
|
NM_000388.4(CASR):c.2686C>T (p.Arg896Cys)
|
rs749125441
|
|
NM_000388.4(CASR):c.2804_2836dup (p.Pro935_Gln945dup)
|
rs2074946020
|
|
NM_000388.4(CASR):c.2980C>T (p.His994Tyr)
|
rs1559969980
|
|
NM_000388.4(CASR):c.3234A>T (p.Ser1078=)
|
rs556263764
|
|
NM_000388.4(CASR):c.788C>T (p.Thr263Met)
|
rs201456938
|
|
NM_000388.4(CASR):c.856C>T (p.Arg286Cys)
|
rs1060502843
|
|
NM_000388.4(CASR):c.865A>G (p.Thr289Ala)
|
rs1559959294
|
|
NM_000393.5(COL5A2):c.1658C>G (p.Pro553Arg)
|
rs149203102
|
|
NM_000393.5(COL5A2):c.2795T>C (p.Leu932Pro)
|
rs730880067
|
|
NM_000393.5(COL5A2):c.2863G>A (p.Asp955Asn)
|
rs754751410
|
|
NM_000393.5(COL5A2):c.407C>T (p.Pro136Leu)
|
rs863223502
|
|
NM_000428.3(LTBP2):c.4720+7G>A
|
rs137854885
|
|
NM_000431.4(MVK):c.*125G>T
|
rs541159703
|
|
NM_000431.4(MVK):c.*308G>A
|
rs886048935
|
|
NM_000431.4(MVK):c.*566G>C
|
rs1473857064
|
|
NM_000431.4(MVK):c.*571G>A
|
rs548094591
|
|
NM_000431.4(MVK):c.1014C>G (p.Gly338=)
|
|
|
NM_000431.4(MVK):c.1019G>C (p.Gly340Ala)
|
|
|
NM_000431.4(MVK):c.1027C>T (p.Leu343Phe)
|
|
|
NM_000431.4(MVK):c.1040-6_1040-5inv
|
|
|
NM_000431.4(MVK):c.1045G>C (p.Glu349Gln)
|
|
|
NM_000431.4(MVK):c.1046A>C (p.Glu349Ala)
|
|
|
NM_000431.4(MVK):c.1055A>C (p.Glu352Ala)
|
rs879219256
|
|
NM_000431.4(MVK):c.1066A>G (p.Thr356Ala)
|
|
|
NM_000431.4(MVK):c.1067C>A (p.Thr356Lys)
|
rs104895342
|
|
NM_000431.4(MVK):c.1073A>C (p.Gln358Pro)
|
rs1885916592
|
|
NM_000431.4(MVK):c.1076C>A (p.Ala359Asp)
|
|
|
NM_000431.4(MVK):c.1078C>G (p.Leu360Val)
|
rs2136257244
|
|
NM_000431.4(MVK):c.1096G>C (p.Asp366His)
|
rs1566153793
|
|
NM_000431.4(MVK):c.1096G>T (p.Asp366Tyr)
|
|
|
NM_000431.4(MVK):c.1124C>T (p.Pro375Leu)
|
|
|
NM_000431.4(MVK):c.1135A>G (p.Ile379Val)
|
|
|
NM_000431.4(MVK):c.1142C>T (p.Ser381Leu)
|
|
|
NM_000431.4(MVK):c.1175C>T (p.Ala392Val)
|
rs1189179026
|
|
NM_000431.4(MVK):c.1189T>C (p.Ter397Arg)
|
rs1555279757
|
|
NM_000431.4(MVK):c.119G>A (p.Arg40Gln)
|
rs373095009
|
|
NM_000431.4(MVK):c.119G>T (p.Arg40Leu)
|
rs373095009
|
|
NM_000431.4(MVK):c.125A>C (p.Gln42Pro)
|
|
|
NM_000431.4(MVK):c.172A>G (p.Ile58Val)
|
|
|
NM_000431.4(MVK):c.179G>A (p.Arg60Gln)
|
|
|
NM_000431.4(MVK):c.186G>C (p.Trp62Cys)
|
rs2136218862
|
|
NM_000431.4(MVK):c.187G>A (p.Asp63Asn)
|
rs1884939365
|
|
NM_000431.4(MVK):c.194C>G (p.Ala65Gly)
|
|
|
NM_000431.4(MVK):c.194C>T (p.Ala65Val)
|
|
|
NM_000431.4(MVK):c.203A>G (p.Gln68Arg)
|
|
|
NM_000431.4(MVK):c.230A>G (p.Gln77Arg)
|
|
|
NM_000431.4(MVK):c.244A>G (p.Thr82Ala)
|
rs2136224465
|
|
NM_000431.4(MVK):c.254C>T (p.Ser85Leu)
|
rs1885131607
|
|
NM_000431.4(MVK):c.288C>T (p.Gly96=)
|
rs2136224524
|
|
NM_000431.4(MVK):c.302G>A (p.Cys101Tyr)
|
rs886048931
|
|
NM_000431.4(MVK):c.312C>T (p.Thr104=)
|
|
|
NM_000431.4(MVK):c.316C>T (p.Arg106Cys)
|
|
|
NM_000431.4(MVK):c.33G>A (p.Pro11=)
|
rs779289416
|
|
NM_000431.4(MVK):c.341A>G (p.Tyr114Cys)
|
|
|
NM_000431.4(MVK):c.349C>G (p.Leu117Val)
|
rs374204972
|
|
NM_000431.4(MVK):c.350T>C (p.Leu117Pro)
|
|
|
NM_000431.4(MVK):c.368A>T (p.Gln123Leu)
|
rs978964462
|
|
NM_000431.4(MVK):c.36G>T (p.Gly12=)
|
rs1884860868
|
|
NM_000431.4(MVK):c.371+1GT[4]
|
rs1337419856
|
|
NM_000431.4(MVK):c.371+4T>C
|
rs1885141606
|
|
NM_000431.4(MVK):c.37A>C (p.Lys13Gln)
|
rs104895307
|
|
NM_000431.4(MVK):c.419G>T (p.Gly140Val)
|
|
|
NM_000431.4(MVK):c.451G>T (p.Val151Leu)
|
rs1885215026
|
|
NM_000431.4(MVK):c.458T>C (p.Leu153Pro)
|
|
|
NM_000431.4(MVK):c.479T>A (p.Val160Glu)
|
|
|
NM_000431.4(MVK):c.491T>A (p.Ile164Asn)
|
|
|
NM_000431.4(MVK):c.503_508del (p.Leu168_Asp170delinsHis)
|
rs1885218525
|
|
NM_000431.4(MVK):c.518G>A (p.Cys173Tyr)
|
rs1267793765
|
|
NM_000431.4(MVK):c.520G>A (p.Val174Ile)
|
rs369227329
|
|
NM_000431.4(MVK):c.520G>T (p.Val174Phe)
|
|
|
NM_000431.4(MVK):c.528-10_528-7del
|
|
|
NM_000431.4(MVK):c.528-3C>T
|
|
|
NM_000431.4(MVK):c.533C>T (p.Thr178Ile)
|
|
|
NM_000431.4(MVK):c.577G>A (p.Glu193Lys)
|
|
|
NM_000431.4(MVK):c.581G>T (p.Arg194Ile)
|
|
|
NM_000431.4(MVK):c.592G>A (p.Gly198Arg)
|
rs202172198
|
|
NM_000431.4(MVK):c.595A>T (p.Asn199Tyr)
|
rs1566147301
|
|
NM_000431.4(MVK):c.598C>T (p.Pro200Ser)
|
rs886048932
|
|
NM_000431.4(MVK):c.631+3A>T
|
|
|
NM_000431.4(MVK):c.632-19_632-18inv
|
|
|
NM_000431.4(MVK):c.632-3T>A
|
rs2136238080
|
|
NM_000431.4(MVK):c.632-3del
|
rs1885451714
|
|
NM_000431.4(MVK):c.641T>A (p.Leu214His)
|
|
|
NM_000431.4(MVK):c.647A>T (p.Tyr216Phe)
|
rs2136238117
|
|
NM_000431.4(MVK):c.64G>C (p.Val22Leu)
|
rs1217259118
|
|
NM_000431.4(MVK):c.653A>C (p.Gln218Pro)
|
rs2136238122
|
|
NM_000431.4(MVK):c.659A>C (p.Lys220Thr)
|
|
|
NM_000431.4(MVK):c.677+5C>A
|
|
|
NM_000431.4(MVK):c.677G>A (p.Arg226Lys)
|
|
|
NM_000431.4(MVK):c.678-3C>A
|
rs1885632836
|
|
NM_000431.4(MVK):c.67G>A (p.Val23Ile)
|
rs2136216776
|
|
NM_000431.4(MVK):c.680C>G (p.Ser227Trp)
|
|
|
NM_000431.4(MVK):c.709A>G (p.Thr237Ala)
|
|
|
NM_000431.4(MVK):c.718C>T (p.Pro240Ser)
|
rs758952837
|
|
NM_000431.4(MVK):c.719C>G (p.Pro240Arg)
|
rs1458254066
|
|
NM_000431.4(MVK):c.71A>C (p.His24Pro)
|
|
|
NM_000431.4(MVK):c.71A>G (p.His24Arg)
|
|
|
NM_000431.4(MVK):c.724A>G (p.Asn242Asp)
|
rs1885636019
|
|
NM_000431.4(MVK):c.733G>T (p.Ala245Ser)
|
rs2136245024
|
|
NM_000431.4(MVK):c.752G>A (p.Arg251Lys)
|
rs1885638229
|
|
NM_000431.4(MVK):c.775G>A (p.Glu259Lys)
|
rs1885663402
|
|
NM_000431.4(MVK):c.778A>T (p.Ile260Phe)
|
|
|
NM_000431.4(MVK):c.781G>A (p.Val261Met)
|
|
|
NM_000431.4(MVK):c.784G>T (p.Ala262Ser)
|
rs1386402188
|
|
NM_000431.4(MVK):c.790C>G (p.Leu264Val)
|
|
|
NM_000431.4(MVK):c.805G>A (p.Asp269Asn)
|
|
|
NM_000431.4(MVK):c.809C>A (p.Ala270Asp)
|
rs866006959
|
|
NM_000431.4(MVK):c.80T>G (p.Val27Gly)
|
rs770136482
|
|
NM_000431.4(MVK):c.815C>T (p.Ser272Phe)
|
rs104895318
|
|
NM_000431.4(MVK):c.824G>A (p.Cys275Tyr)
|
|
|
NM_000431.4(MVK):c.832G>A (p.Val278Met)
|
rs574045811
|
|
NM_000431.4(MVK):c.843G>T (p.Glu281Asp)
|
rs758317084
|
|
NM_000431.4(MVK):c.865G>C (p.Glu289Gln)
|
rs1406107674
|
|
NM_000431.4(MVK):c.86T>C (p.Leu29Pro)
|
|
|
NM_000431.4(MVK):c.938C>A (p.Ala313Asp)
|
|
|
NM_000431.4(MVK):c.938C>T (p.Ala313Val)
|
|
|
NM_000431.4(MVK):c.973C>T (p.Arg325Cys)
|
|
|
NM_000431.4(MVK):c.986G>A (p.Ser329Asn)
|
rs104895350
|
|
NM_000431.4(MVK):c.998G>A (p.Gly333Asp)
|
|
|
NM_000435.3(NOTCH3):c.21CCG[4] (p.Arg13del)
|
rs894374843
|
|
NM_000435.3(NOTCH3):c.3970T>A (p.Cys1324Ser)
|
|
|
NM_000435.3(NOTCH3):c.4163C>T (p.Pro1388Leu)
|
rs1405393607
|
|
NM_000435.3(NOTCH3):c.5114+11T>G
|
rs2046721049
|
|
NM_000435.3(NOTCH3):c.6681C>G (p.His2227Gln)
|
rs1366113655
|
|
NM_000451.4(SHOX):c.-55C>T
|
rs772910213
|
|
NM_000516.7(GNAS):c.985G>A (p.Gly329Arg)
|
rs1394557997
|
|
NM_000546.6(TP53):c.-29+4907G>T
|
|
|
NM_000546.6(TP53):c.-29+4908G>C
|
|
|
NM_000546.6(TP53):c.-29+4914G>T
|
|
|
NM_000546.6(TP53):c.-29+4915del
|
|
|
NM_000546.6(TP53):c.-29+4952G>C
|
|
|
NM_000546.6(TP53):c.-29+5027A>T
|
|
|
NM_000546.6(TP53):c.-29+5029A>G
|
|
|
NM_000546.6(TP53):c.-29+5139C>A
|
|
|
NM_000546.6(TP53):c.677G>C (p.Gly226Ala)
|
rs970212462
|
|
NM_000546.6(TP53):c.993+13G>A
|
rs369599972
|
|
NM_000546.6(TP53):c.993+44C>A
|
|
|
NM_000546.6(TP53):c.993+86del
|
|
|
NM_000628.5(IL10RB):c.*17A>G
|
rs886057003
|
|
NM_000628.5(IL10RB):c.*20C>T
|
rs886057004
|
|
NM_000628.5(IL10RB):c.*796T>C
|
rs886057010
|
|
NM_000628.5(IL10RB):c.-66A>T
|
rs1025835868
|
|
NM_000628.5(IL10RB):c.-94C>A
|
rs556338583
|
|
NM_000628.5(IL10RB):c.107A>C (p.Asn36Thr)
|
rs2123561113
|
|
NM_000628.5(IL10RB):c.116A>G (p.Gln39Arg)
|
|
|
NM_000628.5(IL10RB):c.157A>C (p.Thr53Pro)
|
rs1989015732
|
|
NM_000628.5(IL10RB):c.179G>C (p.Arg60Thr)
|
|
|
NM_000628.5(IL10RB):c.194A>G (p.Lys65Arg)
|
rs1269352420
|
|
NM_000628.5(IL10RB):c.1A>C (p.Met1Leu)
|
rs1266638189
|
|
NM_000628.5(IL10RB):c.1A>T (p.Met1Leu)
|
|
|
NM_000628.5(IL10RB):c.203A>T (p.Asn68Ile)
|
|
|
NM_000628.5(IL10RB):c.20G>A (p.Ser7Asn)
|
rs1042356155
|
|
NM_000628.5(IL10RB):c.274G>C (p.Glu92Gln)
|
rs2123573879
|
|
NM_000628.5(IL10RB):c.284A>T (p.Asp95Val)
|
|
|
NM_000628.5(IL10RB):c.298T>G (p.Trp100Gly)
|
rs868604197
|
|
NM_000628.5(IL10RB):c.29G>C (p.Gly10Ala)
|
|
|
NM_000628.5(IL10RB):c.301G>C (p.Val101Leu)
|
|
|
NM_000628.5(IL10RB):c.302T>C (p.Val101Ala)
|
rs2123573917
|
|
NM_000628.5(IL10RB):c.331+4A>T
|
|
|
NM_000628.5(IL10RB):c.332-11C>T
|
rs531765635
|
|
NM_000628.5(IL10RB):c.332C>G (p.Thr111Ser)
|
rs769595310
|
|
NM_000628.5(IL10RB):c.343C>A (p.Pro115Thr)
|
|
|
NM_000628.5(IL10RB):c.35G>A (p.Cys12Tyr)
|
rs1988945494
|
|
NM_000628.5(IL10RB):c.367C>T (p.Leu123Phe)
|
rs1989246173
|
|
NM_000628.5(IL10RB):c.377C>T (p.Ser126Phe)
|
|
|
NM_000628.5(IL10RB):c.383A>T (p.His128Leu)
|
|
|
NM_000628.5(IL10RB):c.386T>G (p.Met129Arg)
|
rs759321517
|
|
NM_000628.5(IL10RB):c.435G>A (p.Met145Ile)
|
|
|
NM_000628.5(IL10RB):c.466G>A (p.Val156Met)
|
|
|
NM_000628.5(IL10RB):c.498G>A (p.Lys166=)
|
|
|
NM_000628.5(IL10RB):c.498G>C (p.Lys166Asn)
|
rs1989249790
|
|
NM_000628.5(IL10RB):c.511C>A (p.Pro171Thr)
|
rs752902509
|
|
NM_000628.5(IL10RB):c.511C>T (p.Pro171Ser)
|
|
|
NM_000628.5(IL10RB):c.537A>C (p.Arg179Ser)
|
rs1989309241
|
|
NM_000628.5(IL10RB):c.568C>G (p.Gln190Glu)
|
|
|
NM_000628.5(IL10RB):c.584T>C (p.Leu195Pro)
|
|
|
NM_000628.5(IL10RB):c.598A>G (p.Lys200Glu)
|
|
|
NM_000628.5(IL10RB):c.5C>T (p.Ala2Val)
|
|
|
NM_000628.5(IL10RB):c.60G>A (p.Met20Ile)
|
|
|
NM_000628.5(IL10RB):c.612G>T (p.Trp204Cys)
|
|
|
NM_000628.5(IL10RB):c.641A>C (p.His214Pro)
|
rs949664612
|
|
NM_000628.5(IL10RB):c.647-3C>T
|
rs1989409135
|
|
NM_000628.5(IL10RB):c.651G>A (p.Thr217=)
|
|
|
NM_000628.5(IL10RB):c.652G>A (p.Val218Ile)
|
rs776085475
|
|
NM_000628.5(IL10RB):c.680T>A (p.Leu227His)
|
|
|
NM_000628.5(IL10RB):c.682A>T (p.Met228Leu)
|
rs376920653
|
|
NM_000628.5(IL10RB):c.691G>A (p.Val231Ile)
|
|
|
NM_000628.5(IL10RB):c.715C>A (p.Leu239Ile)
|
rs1601835501
|
|
NM_000628.5(IL10RB):c.727G>A (p.Ala243Thr)
|
rs1058861
|
|
NM_000628.5(IL10RB):c.738G>T (p.Trp246Cys)
|
rs368740217
|
|
NM_000628.5(IL10RB):c.785T>G (p.Leu262Arg)
|
rs1989413733
|
|
NM_000628.5(IL10RB):c.787C>G (p.Pro263Ala)
|
|
|
NM_000628.5(IL10RB):c.791A>G (p.Gln264Arg)
|
|
|
NM_000628.5(IL10RB):c.79G>C (p.Val27Leu)
|
rs1989013782
|
|
NM_000628.5(IL10RB):c.800_801del (p.Lys267fs)
|
rs1989414348
|
|
NM_000628.5(IL10RB):c.823C>T (p.His275Tyr)
|
|
|
NM_000628.5(IL10RB):c.830C>T (p.Thr277Ile)
|
rs756566292
|
|
NM_000628.5(IL10RB):c.832del (p.Leu278fs)
|
rs1601839547
|
|
NM_000628.5(IL10RB):c.833T>C (p.Leu278Pro)
|
|
|
NM_000628.5(IL10RB):c.833T>G (p.Leu278Arg)
|
rs781553501
|
|
NM_000628.5(IL10RB):c.839T>C (p.Phe280Ser)
|
rs2082965278
|
|
NM_000628.5(IL10RB):c.841T>G (p.Phe281Val)
|
rs2082965287
|
|
NM_000628.5(IL10RB):c.857C>T (p.Ser286Leu)
|
rs771890796
|
|
NM_000628.5(IL10RB):c.85A>G (p.Met29Val)
|
rs975065416
|
|
NM_000628.5(IL10RB):c.862G>A (p.Glu288Lys)
|
rs2082965441
|
|
NM_000628.5(IL10RB):c.863A>T (p.Glu288Val)
|
|
|
NM_000628.5(IL10RB):c.871G>A (p.Val291Ile)
|
rs2082965493
|
|
NM_000628.5(IL10RB):c.917A>G (p.Lys306Arg)
|
rs2082965718
|
|
NM_000628.5(IL10RB):c.91T>A (p.Ser31Thr)
|
rs1989013997
|
|
NM_000628.5(IL10RB):c.933C>A (p.Asp311Glu)
|
rs2082965805
|
|
NM_000628.5(IL10RB):c.949A>T (p.Thr317Ser)
|
rs1601839637
|
|
NM_000628.5(IL10RB):c.962_967del (p.Gln321_Gly322del)
|
rs2082965983
|
|
NM_000628.5(IL10RB):c.970C>T (p.Gln324Ter)
|
rs2082966126
|
|
NM_000628.5(IL10RB):c.971A>G (p.Gln324Arg)
|
|
|
NM_001011658.4(TRAPPC2):c.*263dup
|
rs1057515794
|
|
NM_001011658.4(TRAPPC2):c.*266_*267insT
|
rs1057515793
|
|
NM_001011658.4(TRAPPC2):c.*950_*956dup
|
rs57103709
|
|
NM_001011658.4(TRAPPC2):c.*956dup
|
rs57103709
|
|
NM_001011658.4(TRAPPC2):c.*957_*958insTTTTTTT
|
rs1057515790
|
|
NM_001011658.4(TRAPPC2):c.-161-2A>C
|
rs2146894247
|
|
NM_001032283.3(TMPO):c.117G>C (p.Gln39His)
|
rs1285673694
|
|
NM_001032283.3(TMPO):c.137C>G (p.Thr46Arg)
|
rs776416936
|
|
NM_001032283.3(TMPO):c.152C>T (p.Pro51Leu)
|
|
|
NM_001032283.3(TMPO):c.170C>A (p.Thr57Asn)
|
|
|
NM_001032283.3(TMPO):c.170C>G (p.Thr57Ser)
|
|
|
NM_001032283.3(TMPO):c.170C>T (p.Thr57Ile)
|
|
|
NM_001032283.3(TMPO):c.174C>G (p.Asn58Lys)
|
|
|
NM_001032283.3(TMPO):c.185C>T (p.Pro62Leu)
|
rs746863579
|
|
NM_001032283.3(TMPO):c.210G>T (p.Glu70Asp)
|
|
|
NM_001032283.3(TMPO):c.221C>T (p.Thr74Ile)
|
|
|
NM_001032283.3(TMPO):c.229C>T (p.Leu77Phe)
|
|
|
NM_001032283.3(TMPO):c.236C>T (p.Ser79Phe)
|
|
|
NM_001032283.3(TMPO):c.251C>T (p.Ala84Val)
|
|
|
NM_001032283.3(TMPO):c.256C>G (p.Arg86Gly)
|
rs1875778307
|
|
NM_001032283.3(TMPO):c.272T>C (p.Val91Ala)
|
|
|
NM_001032283.3(TMPO):c.274G>A (p.Gly92Ser)
|
|
|
NM_001032283.3(TMPO):c.278G>A (p.Arg93Lys)
|
rs1555201635
|
|
NM_001032283.3(TMPO):c.279+4A>C
|
rs1875782829
|
|
NM_001032283.3(TMPO):c.279G>A (p.Arg93=)
|
rs759987514
|
|
NM_001032283.3(TMPO):c.280-11T>G
|
|
|
NM_001032283.3(TMPO):c.284C>T (p.Ala95Val)
|
|
|
NM_001032283.3(TMPO):c.287C>T (p.Thr96Ile)
|
|
|
NM_001032283.3(TMPO):c.308G>C (p.Arg103Thr)
|
|
|
NM_001032283.3(TMPO):c.324T>A (p.Asp108Glu)
|
|
|
NM_001032283.3(TMPO):c.365A>T (p.Asp122Val)
|
rs904567500
|
|
NM_001032283.3(TMPO):c.373G>A (p.Val125Met)
|
rs1325674217
|
|
NM_001032283.3(TMPO):c.380A>G (p.Tyr127Cys)
|
rs1259294108
|
|
NM_001032283.3(TMPO):c.383G>A (p.Gly128Glu)
|
rs886049910
|
|
NM_001032283.3(TMPO):c.386T>G (p.Val129Gly)
|
|
|
NM_001032283.3(TMPO):c.391C>T (p.Pro131Ser)
|
|
|
NM_001032283.3(TMPO):c.400A>C (p.Ile134Leu)
|
|
|
NM_001032283.3(TMPO):c.400A>T (p.Ile134Phe)
|
rs745442874
|
|
NM_001032283.3(TMPO):c.443A>G (p.Lys148Arg)
|
rs2121195483
|
|
NM_001032283.3(TMPO):c.460A>C (p.Thr154Pro)
|
|
|
NM_001032283.3(TMPO):c.472TCT[1] (p.Ser159del)
|
|
|
NM_001032283.3(TMPO):c.478A>C (p.Thr160Pro)
|
rs770948908
|
|
NM_001032283.3(TMPO):c.478_480del (p.Thr160del)
|
|
|
NM_001032283.3(TMPO):c.479C>T (p.Thr160Ile)
|
|
|
NM_001032283.3(TMPO):c.482C>A (p.Pro161His)
|
|
|
NM_001032283.3(TMPO):c.482C>T (p.Pro161Leu)
|
rs1877210566
|
|
NM_001032283.3(TMPO):c.485T>A (p.Leu162Gln)
|
|
|
NM_001032283.3(TMPO):c.485T>G (p.Leu162Arg)
|
rs2121195897
|
|
NM_001032283.3(TMPO):c.493A>G (p.Ile165Val)
|
|
|
NM_001032283.3(TMPO):c.503CAG[1] (p.Ala169del)
|
|
|
NM_001032283.3(TMPO):c.506C>G (p.Ala169Gly)
|
|
|
NM_001032283.3(TMPO):c.52A>G (p.Ser18Gly)
|
rs2121093002
|
|
NM_001032283.3(TMPO):c.565+1005A>G
|
|
|
NM_001032283.3(TMPO):c.565+1017A>G
|
|
|
NM_001032283.3(TMPO):c.565+1018C>G
|
|
|
NM_001032283.3(TMPO):c.565+1026A>G
|
rs1447801243
|
|
NM_001032283.3(TMPO):c.565+1033C>T
|
rs747066370
|
|
NM_001032283.3(TMPO):c.565+1048G>A
|
rs1877293542
|
|
NM_001032283.3(TMPO):c.565+1048G>C
|
|
|
NM_001032283.3(TMPO):c.565+1062_565+1063delinsTT
|
|
|
NM_001032283.3(TMPO):c.565+1069G>A
|
|
|
NM_001032283.3(TMPO):c.565+1108G>A
|
|
|
NM_001032283.3(TMPO):c.565+1114C>T
|
rs754944353
|
|
NM_001032283.3(TMPO):c.565+1120G>C
|
|
|
NM_001032283.3(TMPO):c.565+1128G>T
|
|
|
NM_001032283.3(TMPO):c.565+1161A>G
|
rs2121202826
|
|
NM_001032283.3(TMPO):c.565+1168A>T
|
rs370585407
|
|
NM_001032283.3(TMPO):c.565+1179G>T
|
|
|
NM_001032283.3(TMPO):c.565+1257T>C
|
rs1877309895
|
|
NM_001032283.3(TMPO):c.565+1260A>C
|
rs779869644
|
|
NM_001032283.3(TMPO):c.565+1272del
|
|
|
NM_001032283.3(TMPO):c.565+1273A>G
|
rs146158243
|
|
NM_001032283.3(TMPO):c.565+1279G>A
|
|
|
NM_001032283.3(TMPO):c.565+1302T>C
|
|
|
NM_001032283.3(TMPO):c.565+1312C>G
|
|
|
NM_001032283.3(TMPO):c.565+1320A>C
|
rs747613142
|
|
NM_001032283.3(TMPO):c.565+1361T>G
|
rs185083543
|
|
NM_001032283.3(TMPO):c.565+1362_565+1363insTCA
|
rs755623404
|
|
NM_001032283.3(TMPO):c.565+1372C>T
|
|
|
NM_001032283.3(TMPO):c.565+1374A>C
|
rs760685984
|
|
NM_001032283.3(TMPO):c.565+1378G>A
|
|
|
NM_001032283.3(TMPO):c.565+1420A>G
|
|
|
NM_001032283.3(TMPO):c.565+1439A>C
|
rs1877327751
|
|
NM_001032283.3(TMPO):c.565+1467C>G
|
rs200124801
|
|
NM_001032283.3(TMPO):c.565+1467C>T
|
rs200124801
|
|
NM_001032283.3(TMPO):c.565+1474C>T
|
|
|
NM_001032283.3(TMPO):c.565+1474CT[2]
|
rs1359210478
|
|
NM_001032283.3(TMPO):c.565+1508_565+1509del
|
|
|
NM_001032283.3(TMPO):c.565+1536_565+1543del
|
|
|
NM_001032283.3(TMPO):c.565+1548A>G
|
rs779658294
|
|
NM_001032283.3(TMPO):c.565+1575G>A
|
rs1060502980
|
|
NM_001032283.3(TMPO):c.565+1584G>A
|
rs147002330
|
|
NM_001032283.3(TMPO):c.565+1584G>C
|
rs147002330
|
|
NM_001032283.3(TMPO):c.565+1584G>T
|
|
|
NM_001032283.3(TMPO):c.565+1587G>A
|
|
|
NM_001032283.3(TMPO):c.565+1590G>A
|
|
|
NM_001032283.3(TMPO):c.565+1595T>G
|
|
|
NM_001032283.3(TMPO):c.565+1609C>G
|
|
|
NM_001032283.3(TMPO):c.565+1611A>C
|
|
|
NM_001032283.3(TMPO):c.565+1633T>C
|
|
|
NM_001032283.3(TMPO):c.565+1643A>G
|
|
|
NM_001032283.3(TMPO):c.565+1692C>A
|
rs879040481
|
|
NM_001032283.3(TMPO):c.565+1692C>T
|
rs879040481
|
|
NM_001032283.3(TMPO):c.565+1708C>T
|
|
|
NM_001032283.3(TMPO):c.565+1724G>C
|
|
|
NM_001032283.3(TMPO):c.565+1725T>A
|
|
|
NM_001032283.3(TMPO):c.565+1774C>G
|
rs762576951
|
|
NM_001032283.3(TMPO):c.565+1782G>A
|
rs763388598
|
|
NM_001032283.3(TMPO):c.565+1790G>A
|
|
|
NM_001032283.3(TMPO):c.565+1795C>A
|
rs1877361719
|
|
NM_001032283.3(TMPO):c.565+1807C>G
|
|
|
NM_001032283.3(TMPO):c.565+1813TC[2]
|
rs1877364478
|
|
NM_001032283.3(TMPO):c.565+1872A>G
|
rs1060502979
|
|
NM_001032283.3(TMPO):c.565+1873T>C
|
rs1238424266
|
|
NM_001032283.3(TMPO):c.565+1878G>A
|
rs1877372287
|
|
NM_001032283.3(TMPO):c.565+1905G>T
|
rs2121207714
|
|
NM_001032283.3(TMPO):c.565+1928del
|
rs1442448525
|
|
NM_001032283.3(TMPO):c.565+1932G>A
|
|
|
NM_001032283.3(TMPO):c.565+1935T>C
|
|
|
NM_001032283.3(TMPO):c.565+1983del
|
|
|
NM_001032283.3(TMPO):c.565+1995G>A
|
|
|
NM_001032283.3(TMPO):c.565+2002C>T
|
rs2121208214
|
|
NM_001032283.3(TMPO):c.565+2014C>G
|
rs2121208283
|
|
NM_001032283.3(TMPO):c.565+2019C>A
|
rs764610443
|
|
NM_001032283.3(TMPO):c.565+2022A>G
|
|
|
NM_001032283.3(TMPO):c.565+2026T>C
|
rs1555203926
|
|
NM_001032283.3(TMPO):c.565+2029A>G
|
|
|
NM_001032283.3(TMPO):c.565+2044G>T
|
|
|
NM_001032283.3(TMPO):c.565+2058G>T
|
|
|
NM_001032283.3(TMPO):c.565+2067C>G
|
rs745484180
|
|
NM_001032283.3(TMPO):c.565+2085G>A
|
|
|
NM_001032283.3(TMPO):c.565+2101G>A
|
rs774064196
|
|
NM_001032283.3(TMPO):c.565+2101G>T
|
|
|
NM_001032283.3(TMPO):c.565+2102C>A
|
rs764177808
|
|
NM_001032283.3(TMPO):c.565+2128G>A
|
|
|
NM_001032283.3(TMPO):c.565+2169A>G
|
|
|
NM_001032283.3(TMPO):c.565+2170C>G
|
|
|
NM_001032283.3(TMPO):c.565+2170C>T
|
|
|
NM_001032283.3(TMPO):c.565+2172C>T
|
rs1565812072
|
|
NM_001032283.3(TMPO):c.565+2173A>T
|
|
|
NM_001032283.3(TMPO):c.565+2175A>G
|
rs1877399544
|
|
NM_001032283.3(TMPO):c.565+2175_565+2176del
|
|
|
NM_001032283.3(TMPO):c.565+2179C>T
|
|
|
NM_001032283.3(TMPO):c.565+2197T>C
|
rs1877401842
|
|
NM_001032283.3(TMPO):c.565+2220G>A
|
|
|
NM_001032283.3(TMPO):c.565+2229C>G
|
|
|
NM_001032283.3(TMPO):c.565+2247C>G
|
rs369379490
|
|
NM_001032283.3(TMPO):c.565+2251C>T
|
|
|
NM_001032283.3(TMPO):c.565+2280A>G
|
rs1877412049
|
|
NM_001032283.3(TMPO):c.565+2281C>T
|
rs1877412433
|
|
NM_001032283.3(TMPO):c.565+2284_565+2285del
|
rs767209319
|
|
NM_001032283.3(TMPO):c.565+2292G>A
|
|
|
NM_001032283.3(TMPO):c.565+2299A>G
|
rs766232053
|
|
NM_001032283.3(TMPO):c.565+2340C>G
|
rs1877418406
|
|
NM_001032283.3(TMPO):c.565+2340C>T
|
|
|
NM_001032283.3(TMPO):c.565+2346A>G
|
rs1565812255
|
|
NM_001032283.3(TMPO):c.565+2353A>G
|
rs1335078305
|
|
NM_001032283.3(TMPO):c.565+2362T>C
|
|
|
NM_001032283.3(TMPO):c.565+2367C>G
|
|
|
NM_001032283.3(TMPO):c.565+2369_565+2371del
|
rs755715445
|
|
NM_001032283.3(TMPO):c.565+2381G>C
|
rs1877422962
|
|
NM_001032283.3(TMPO):c.565+2397A>T
|
|
|
NM_001032283.3(TMPO):c.565+2412A>T
|
|
|
NM_001032283.3(TMPO):c.565+2425C>T
|
rs1268085556
|
|
NM_001032283.3(TMPO):c.565+2460G>A
|
|
|
NM_001032283.3(TMPO):c.565+2461_565+2463del
|
rs727503491
|
|
NM_001032283.3(TMPO):c.565+2472A>C
|
rs1877431244
|
|
NM_001032283.3(TMPO):c.565+2474A>C
|
rs2121211551
|
|
NM_001032283.3(TMPO):c.565+2481A>G
|
|
|
NM_001032283.3(TMPO):c.565+995A>C
|
|
|
NM_001032283.3(TMPO):c.565+995_565+998del
|
rs747695132
|
|
NM_001032283.3(TMPO):c.5C>T (p.Pro2Leu)
|
|
|
NM_001042492.3(NF1):c.1002C>G (p.Ile334Met)
|
rs2143873647
|
|
NM_001042492.3(NF1):c.1185+20T>G
|
rs2066522265
|
|
NM_001042492.3(NF1):c.1186A>C (p.Ile396Leu)
|
rs1413735911
|
|
NM_001042492.3(NF1):c.1264G>T (p.Ala422Ser)
|
rs786202145
|
|
NM_001042492.3(NF1):c.1322A>G (p.Asn441Ser)
|
rs370020114
|
|
NM_001042492.3(NF1):c.1355A>T (p.Gln452Leu)
|
rs2066621372
|
|
NM_001042492.3(NF1):c.1361G>A (p.Cys454Tyr)
|
rs983914251
|
|
NM_001042492.3(NF1):c.1370A>T (p.His457Leu)
|
rs786202763
|
|
NM_001042492.3(NF1):c.1392+5G>A
|
rs199999754
|
|
NM_001042492.3(NF1):c.1541A>G (p.Gln514Arg)
|
rs775369084
|
|
NM_001042492.3(NF1):c.1583G>A (p.Gly528Glu)
|
|
|
NM_001042492.3(NF1):c.15G>T (p.Arg5Ser)
|
rs1567786804
|
|
NM_001042492.3(NF1):c.1600C>T (p.Pro534Ser)
|
rs1555612858
|
|
NM_001042492.3(NF1):c.1621A>G (p.Ile541Val)
|
rs876660632
|
|
NM_001042492.3(NF1):c.1633G>T (p.Ala545Ser)
|
|
|
NM_001042492.3(NF1):c.1636A>G (p.Met546Val)
|
rs2066877456
|
|
NM_001042492.3(NF1):c.1661A>G (p.Gln554Arg)
|
rs863224656
|
|
NM_001042492.3(NF1):c.1675G>A (p.Asp559Asn)
|
rs2144004244
|
|
NM_001042492.3(NF1):c.1721+6T>C
|
rs2144005065
|
|
NM_001042492.3(NF1):c.1722-13T>G
|
|
|
NM_001042492.3(NF1):c.1771C>G (p.Leu591Val)
|
rs767247726
|
|
NM_001042492.3(NF1):c.17C>T (p.Pro6Leu)
|
rs864622210
|
|
NM_001042492.3(NF1):c.1802G>A (p.Arg601Gln)
|
rs1060500288
|
|
NM_001042492.3(NF1):c.1892G>A (p.Gly631Glu)
|
rs876660272
|
|
NM_001042492.3(NF1):c.1919C>T (p.Thr640Ile)
|
rs1555613573
|
|
NM_001042492.3(NF1):c.1940A>C (p.His647Pro)
|
rs1170252879
|
|
NM_001042492.3(NF1):c.1981G>A (p.Gly661Arg)
|
rs2066993430
|
|
NM_001042492.3(NF1):c.2001+5G>T
|
rs2144028091
|
|
NM_001042492.3(NF1):c.2012C>G (p.Ala671Gly)
|
rs760900648
|
|
NM_001042492.3(NF1):c.2015G>T (p.Gly672Val)
|
rs371817372
|
|
NM_001042492.3(NF1):c.2128_2142del (p.Phe710_Cys714del)
|
|
|
NM_001042492.3(NF1):c.2158C>T (p.Arg720Trp)
|
rs759679443
|
|
NM_001042492.3(NF1):c.2186A>C (p.His729Pro)
|
|
|
NM_001042492.3(NF1):c.2188A>C (p.Asn730His)
|
rs758893131
|
|
NM_001042492.3(NF1):c.2204A>C (p.Tyr735Ser)
|
|
|
NM_001042492.3(NF1):c.2204A>G (p.Tyr735Cys)
|
|
|
NM_001042492.3(NF1):c.2233A>G (p.Ser745Gly)
|
rs786201865
|
|
NM_001042492.3(NF1):c.2236A>G (p.Asn746Asp)
|
rs2151426135
|
|
NM_001042492.3(NF1):c.2244G>A (p.Met748Ile)
|
rs786202478
|
|
NM_001042492.3(NF1):c.2281G>A (p.Ala761Thr)
|
rs786202504
|
|
NM_001042492.3(NF1):c.2325+4T>C
|
rs1555613934
|
|
NM_001042492.3(NF1):c.2326-5T>G
|
|
|
NM_001042492.3(NF1):c.234T>A (p.Asn78Lys)
|
rs876658354
|
|
NM_001042492.3(NF1):c.2360CAA[1] (p.Thr788del)
|
|
|
NM_001042492.3(NF1):c.2371A>C (p.Ile791Leu)
|
|
|
NM_001042492.3(NF1):c.2410-5T>A
|
rs2151428754
|
|
NM_001042492.3(NF1):c.2431A>G (p.Thr811Ala)
|
|
|
NM_001042492.3(NF1):c.2440A>G (p.Lys814Glu)
|
rs1555614184
|
|
NM_001042492.3(NF1):c.2495A>G (p.Asp832Gly)
|
rs1060500283
|
|
NM_001042492.3(NF1):c.2497T>C (p.Ser833Pro)
|
|
|
NM_001042492.3(NF1):c.2518A>G (p.Met840Val)
|
rs779931789
|
|
NM_001042492.3(NF1):c.2569A>G (p.Asn857Asp)
|
|
|
NM_001042492.3(NF1):c.2582C>A (p.Ala861Glu)
|
rs1555614266
|
|
NM_001042492.3(NF1):c.2641A>G (p.Met881Val)
|
rs1060500263
|
|
NM_001042492.3(NF1):c.2663A>G (p.Asp888Gly)
|
|
|
NM_001042492.3(NF1):c.2666C>T (p.Thr889Ile)
|
|
|
NM_001042492.3(NF1):c.2668C>A (p.Pro890Thr)
|
rs771012891
|
|
NM_001042492.3(NF1):c.2671G>C (p.Val891Leu)
|
rs1060500256
|
|
NM_001042492.3(NF1):c.2674A>T (p.Ser892Cys)
|
rs746324091
|
|
NM_001042492.3(NF1):c.2783C>T (p.Ala928Val)
|
rs2067073386
|
|
NM_001042492.3(NF1):c.2825G>C (p.Ser942Thr)
|
rs1555614350
|
|
NM_001042492.3(NF1):c.2848C>G (p.Gln950Glu)
|
|
|
NM_001042492.3(NF1):c.2851-3del
|
rs876660379
|
|
NM_001042492.3(NF1):c.2867C>G (p.Thr956Ser)
|
rs1323973848
|
|
NM_001042492.3(NF1):c.288+6T>A
|
|
|
NM_001042492.3(NF1):c.289-6T>C
|
rs757074803
|
|
NM_001042492.3(NF1):c.2896G>C (p.Ala966Pro)
|
|
|
NM_001042492.3(NF1):c.2899A>G (p.Ile967Val)
|
rs876660279
|
|
NM_001042492.3(NF1):c.2993A>G (p.Tyr998Cys)
|
rs1555614496
|
|
NM_001042492.3(NF1):c.2999G>T (p.Arg1000Leu)
|
rs753082620
|
|
NM_001042492.3(NF1):c.3055G>A (p.Val1019Ile)
|
rs1567849826
|
|
NM_001042492.3(NF1):c.3069G>A (p.Met1023Ile)
|
rs2151431668
|
|
NM_001042492.3(NF1):c.3140A>G (p.Asp1047Gly)
|
rs1555614631
|
|
NM_001042492.3(NF1):c.3157T>C (p.Ser1053Pro)
|
|
|
NM_001042492.3(NF1):c.3169G>A (p.Ala1057Thr)
|
rs1367746167
|
|
NM_001042492.3(NF1):c.3223_3225delinsAGG (p.Ala1075Arg)
|
|
|
NM_001042492.3(NF1):c.3251C>T (p.Pro1084Leu)
|
rs1164081667
|
|
NM_001042492.3(NF1):c.3302A>G (p.Gln1101Arg)
|
|
|
NM_001042492.3(NF1):c.3406C>T (p.Arg1136Trp)
|
rs1341314304
|
|
NM_001042492.3(NF1):c.3467A>G (p.Asn1156Ser)
|
rs199474764
|
|
NM_001042492.3(NF1):c.3524C>T (p.Thr1175Ile)
|
rs1555615024
|
|
NM_001042492.3(NF1):c.3646G>T (p.Gly1216Cys)
|
rs1567851424
|
|
NM_001042492.3(NF1):c.3671C>T (p.Ala1224Val)
|
rs1060500340
|
|
NM_001042492.3(NF1):c.3674T>C (p.Met1225Thr)
|
|
|
NM_001042492.3(NF1):c.3691G>A (p.Val1231Ile)
|
|
|
NM_001042492.3(NF1):c.3721C>G (p.Arg1241Gly)
|
rs137854562
|
|
NM_001042492.3(NF1):c.373C>T (p.Arg125Cys)
|
rs876659418
|
|
NM_001042492.3(NF1):c.3779T>C (p.Met1260Thr)
|
rs1555615463
|
|
NM_001042492.3(NF1):c.378A>C (p.Glu126Asp)
|
rs786201914
|
|
NM_001042492.3(NF1):c.3797A>G (p.Glu1266Gly)
|
|
|
NM_001042492.3(NF1):c.3811A>C (p.Met1271Leu)
|
rs746583007
|
|
NM_001042492.3(NF1):c.3821T>C (p.Leu1274Pro)
|
|
|
NM_001042492.3(NF1):c.3835A>T (p.Ser1279Cys)
|
|
|
NM_001042492.3(NF1):c.3863G>A (p.Cys1288Tyr)
|
rs1597722661
|
|
NM_001042492.3(NF1):c.389A>T (p.His130Leu)
|
rs876660277
|
|
NM_001042492.3(NF1):c.3921T>G (p.Ile1307Met)
|
rs876660805
|
|
NM_001042492.3(NF1):c.394G>A (p.Ala132Thr)
|
|
|
NM_001042492.3(NF1):c.3959A>C (p.Glu1320Ala)
|
rs1555615562
|
|
NM_001042492.3(NF1):c.4010G>A (p.Arg1337Gln)
|
rs1060500379
|
|
NM_001042492.3(NF1):c.4018C>G (p.Leu1340Val)
|
|
|
NM_001042492.3(NF1):c.4034A>G (p.Lys1345Arg)
|
|
|
NM_001042492.3(NF1):c.4074_4075delinsAA (p.Pro1359Thr)
|
rs1555617362
|
|
NM_001042492.3(NF1):c.4075C>A (p.Pro1359Thr)
|
rs745931495
|
|
NM_001042492.3(NF1):c.4169A>G (p.Lys1390Arg)
|
|
|
NM_001042492.3(NF1):c.4186C>T (p.Arg1396Cys)
|
rs1555618495
|
|
NM_001042492.3(NF1):c.4197G>T (p.Gln1399His)
|
rs1355988609
|
|
NM_001042492.3(NF1):c.4201A>G (p.Ser1401Gly)
|
rs1060500310
|
|
NM_001042492.3(NF1):c.4219A>G (p.Ser1407Gly)
|
rs587781755
|
|
NM_001042492.3(NF1):c.4239T>G (p.Phe1413Leu)
|
rs1597744644
|
|
NM_001042492.3(NF1):c.4315T>A (p.Leu1439Met)
|
rs1555618562
|
|
NM_001042492.3(NF1):c.4316T>G (p.Leu1439Trp)
|
rs1567862071
|
|
NM_001042492.3(NF1):c.4394A>G (p.Asn1465Ser)
|
rs786202492
|
|
NM_001042492.3(NF1):c.4405A>G (p.Lys1469Glu)
|
|
|
NM_001042492.3(NF1):c.4412A>G (p.Asn1471Ser)
|
rs876658250
|
|
NM_001042492.3(NF1):c.4437C>A (p.Phe1479Leu)
|
rs757953485
|
|
NM_001042492.3(NF1):c.4453G>T (p.Asp1485Tyr)
|
rs2067662991
|
|
NM_001042492.3(NF1):c.4462A>C (p.Thr1488Pro)
|
rs876660162
|
|
NM_001042492.3(NF1):c.4462A>G (p.Thr1488Ala)
|
rs876660162
|
|
NM_001042492.3(NF1):c.4501G>T (p.Asp1501Tyr)
|
|
|
NM_001042492.3(NF1):c.4505G>A (p.Gly1502Asp)
|
|
|
NM_001042492.3(NF1):c.4507A>C (p.Asn1503His)
|
rs1555618837
|
|
NM_001042492.3(NF1):c.452A>T (p.Asn151Ile)
|
|
|
NM_001042492.3(NF1):c.4536G>C (p.Trp1512Cys)
|
rs878853897
|
|
NM_001042492.3(NF1):c.4572C>A (p.Ser1524Arg)
|
rs1597747170
|
|
NM_001042492.3(NF1):c.4573A>G (p.Asn1525Asp)
|
rs1555618861
|
|
NM_001042492.3(NF1):c.4640G>A (p.Gly1547Asp)
|
rs2151466343
|
|
NM_001042492.3(NF1):c.4681A>G (p.Ser1561Gly)
|
|
|
NM_001042492.3(NF1):c.469A>G (p.Ile157Val)
|
rs1555606118
|
|
NM_001042492.3(NF1):c.46C>G (p.Arg16Gly)
|
|
|
NM_001042492.3(NF1):c.4796C>T (p.Ser1599Phe)
|
rs1555619407
|
|
NM_001042492.3(NF1):c.480-2746A>G
|
|
|
NM_001042492.3(NF1):c.4804G>A (p.Gly1602Arg)
|
rs878853898
|
|
NM_001042492.3(NF1):c.4831C>T (p.Arg1611Trp)
|
rs1060500316
|
|
NM_001042492.3(NF1):c.4832G>A (p.Arg1611Gln)
|
rs876659197
|
|
NM_001042492.3(NF1):c.4841A>G (p.Lys1614Arg)
|
|
|
NM_001042492.3(NF1):c.4856A>G (p.Asn1619Ser)
|
rs1466167635
|
|
NM_001042492.3(NF1):c.5078A>G (p.His1693Arg)
|
rs2151538392
|
|
NM_001042492.3(NF1):c.5084G>A (p.Arg1695Gln)
|
rs1555533367
|
|
NM_001042492.3(NF1):c.5146G>A (p.Ala1716Thr)
|
rs767469374
|
|
NM_001042492.3(NF1):c.5164G>A (p.Glu1722Lys)
|
|
|
NM_001042492.3(NF1):c.5191T>G (p.Leu1731Val)
|
rs876658602
|
|
NM_001042492.3(NF1):c.520G>A (p.Val174Ile)
|
rs1555607084
|
|
NM_001042492.3(NF1):c.520G>T (p.Val174Phe)
|
rs1555607084
|
|
NM_001042492.3(NF1):c.5385T>A (p.Asp1795Glu)
|
rs1135402870
|
|
NM_001042492.3(NF1):c.5450G>A (p.Cys1817Tyr)
|
rs1555533589
|
|
NM_001042492.3(NF1):c.5483G>A (p.Arg1828Gln)
|
rs876660298
|
|
NM_001042492.3(NF1):c.5489G>A (p.Arg1830His)
|
rs771529172
|
|
NM_001042492.3(NF1):c.5503C>A (p.Gln1835Lys)
|
|
|
NM_001042492.3(NF1):c.5533A>T (p.Ile1845Phe)
|
rs1567612641
|
|
NM_001042492.3(NF1):c.556G>T (p.Asp186Tyr)
|
rs1567820765
|
|
NM_001042492.3(NF1):c.5572G>A (p.Ala1858Thr)
|
rs786203416
|
|
NM_001042492.3(NF1):c.5590A>T (p.Ser1864Cys)
|
rs2151541898
|
|
NM_001042492.3(NF1):c.5729C>G (p.Ser1910Cys)
|
rs751904277
|
|
NM_001042492.3(NF1):c.5741C>A (p.Thr1914Lys)
|
rs1555533873
|
|
NM_001042492.3(NF1):c.5756A>T (p.Glu1919Val)
|
|
|
NM_001042492.3(NF1):c.5812+489C>G
|
|
|
NM_001042492.3(NF1):c.5813-1042A>G
|
|
|
NM_001042492.3(NF1):c.5926G>C (p.Asp1976His)
|
|
|
NM_001042492.3(NF1):c.5935A>G (p.Ile1979Val)
|
rs775480099
|
|
NM_001042492.3(NF1):c.6031C>G (p.Leu2011Val)
|
rs1567616649
|
|
NM_001042492.3(NF1):c.6148-16T>G
|
rs769223408
|
|
NM_001042492.3(NF1):c.614A>G (p.Lys205Arg)
|
rs1555608659
|
|
NM_001042492.3(NF1):c.6175G>A (p.Asp2059Asn)
|
rs761029453
|
|
NM_001042492.3(NF1):c.619G>T (p.Val207Phe)
|
|
|
NM_001042492.3(NF1):c.6310T>C (p.Phe2104Leu)
|
rs876660000
|
|
NM_001042492.3(NF1):c.6398T>C (p.Leu2133Pro)
|
rs2069690617
|
|
NM_001042492.3(NF1):c.6550G>A (p.Asp2184Asn)
|
rs1597843887
|
|
NM_001042492.3(NF1):c.6630G>C (p.Leu2210Phe)
|
rs886052801
|
|
NM_001042492.3(NF1):c.6637A>G (p.Met2213Val)
|
rs864622330
|
|
NM_001042492.3(NF1):c.6647G>T (p.Cys2216Phe)
|
rs1567617669
|
|
NM_001042492.3(NF1):c.6683A>G (p.Gln2228Arg)
|
|
|
NM_001042492.3(NF1):c.6687G>C (p.Trp2229Cys)
|
|
|
NM_001042492.3(NF1):c.6887T>C (p.Ile2296Thr)
|
rs1212022548
|
|
NM_001042492.3(NF1):c.6920A>G (p.Lys2307Arg)
|
rs765418194
|
|
NM_001042492.3(NF1):c.6931C>G (p.Leu2311Val)
|
rs1044698498
|
|
NM_001042492.3(NF1):c.6948T>G (p.Phe2316Leu)
|
rs1597847958
|
|
NM_001042492.3(NF1):c.7027C>T (p.His2343Tyr)
|
rs781578248
|
|
NM_001042492.3(NF1):c.7049T>A (p.Ile2350Lys)
|
rs2069794814
|
|
NM_001042492.3(NF1):c.7063A>C (p.Ser2355Arg)
|
|
|
NM_001042492.3(NF1):c.7078T>C (p.Phe2360Leu)
|
rs2069866148
|
|
NM_001042492.3(NF1):c.7081A>G (p.Met2361Val)
|
rs1022562410
|
|
NM_001042492.3(NF1):c.7090C>T (p.Arg2364Trp)
|
rs1567620403
|
|
NM_001042492.3(NF1):c.7113C>T (p.Cys2371=)
|
rs2069867490
|
|
NM_001042492.3(NF1):c.7162T>A (p.Phe2388Ile)
|
rs1425642121
|
|
NM_001042492.3(NF1):c.7162T>G (p.Phe2388Val)
|
|
|
NM_001042492.3(NF1):c.7368A>C (p.Lys2456Asn)
|
rs201287021
|
|
NM_001042492.3(NF1):c.7385T>C (p.Leu2462Pro)
|
rs1060500302
|
|
NM_001042492.3(NF1):c.7391C>A (p.Thr2464Asn)
|
|
|
NM_001042492.3(NF1):c.7411G>A (p.Val2471Ile)
|
rs876660126
|
|
NM_001042492.3(NF1):c.7429C>T (p.Pro2477Ser)
|
rs876658722
|
|
NM_001042492.3(NF1):c.7446C>A (p.Asp2482Glu)
|
rs876660614
|
|
NM_001042492.3(NF1):c.7447C>T (p.Pro2483Ser)
|
rs1291550449
|
|
NM_001042492.3(NF1):c.7477C>T (p.Pro2493Ser)
|
rs2070167112
|
|
NM_001042492.3(NF1):c.7490C>T (p.Pro2497Leu)
|
rs1555536347
|
|
NM_001042492.3(NF1):c.7496G>A (p.Gly2499Asp)
|
rs375176282
|
|
NM_001042492.3(NF1):c.7513G>C (p.Ala2505Pro)
|
rs786202955
|
|
NM_001042492.3(NF1):c.757G>C (p.Val253Leu)
|
rs786203607
|
|
NM_001042492.3(NF1):c.7693A>G (p.Thr2565Ala)
|
rs786202548
|
|
NM_001042492.3(NF1):c.7767G>C (p.Gln2589His)
|
rs587782168
|
|
NM_001042492.3(NF1):c.7768C>T (p.His2590Tyr)
|
rs1555536690
|
|
NM_001042492.3(NF1):c.7770C>A (p.His2590Gln)
|
rs1060503906
|
|
NM_001042492.3(NF1):c.7781G>T (p.Arg2594Leu)
|
rs774781617
|
|
NM_001042492.3(NF1):c.7805A>G (p.Asn2602Ser)
|
rs2151582358
|
|
NM_001042492.3(NF1):c.7838C>A (p.Pro2613Gln)
|
rs750972729
|
|
NM_001042492.3(NF1):c.7846C>G (p.Gln2616Glu)
|
rs1555536713
|
|
NM_001042492.3(NF1):c.7915C>G (p.Leu2639Val)
|
rs1057518362
|
|
NM_001042492.3(NF1):c.7963C>A (p.Pro2655Thr)
|
rs587781791
|
|
NM_001042492.3(NF1):c.8011T>A (p.Leu2671Met)
|
rs2070326229
|
|
NM_001042492.3(NF1):c.8084C>T (p.Pro2695Leu)
|
rs2070328290
|
|
NM_001042492.3(NF1):c.8183C>T (p.Ala2728Val)
|
rs760973918
|
|
NM_001042492.3(NF1):c.8222C>T (p.Thr2741Met)
|
rs144178015
|
|
NM_001042492.3(NF1):c.8244A>T (p.Glu2748Asp)
|
rs878853919
|
|
NM_001042492.3(NF1):c.8357C>T (p.Ala2786Val)
|
rs2070377037
|
|
NM_001042492.3(NF1):c.8362T>G (p.Ser2788Ala)
|
rs374004608
|
|
NM_001042492.3(NF1):c.8363C>T (p.Ser2788Phe)
|
rs1567628713
|
|
NM_001042492.3(NF1):c.8407C>G (p.Pro2803Ala)
|
rs779180729
|
|
NM_001042492.3(NF1):c.8421C>A (p.His2807Gln)
|
rs1326795798
|
|
NM_001042492.3(NF1):c.8421C>G (p.His2807Gln)
|
|
|
NM_001042492.3(NF1):c.8422T>C (p.Cys2808Arg)
|
rs1597883056
|
|
NM_001042492.3(NF1):c.8438C>T (p.Thr2813Ile)
|
|
|
NM_001042492.3(NF1):c.8475A>C (p.Arg2825Ser)
|
|
|
NM_001042492.3(NF1):c.8497A>C (p.Asn2833His)
|
rs786202863
|
|
NM_001042492.3(NF1):c.8503A>G (p.Ile2835Val)
|
rs2151601629
|
|
NM_001042492.3(NF1):c.885T>A (p.Asn295Lys)
|
rs864622300
|
|
NM_001042492.3(NF1):c.888+652G>A
|
|
|
NM_001042492.3(NF1):c.889-11_889-6delinsAAATT
|
rs2143871690
|
|
NM_001042492.3(NF1):c.889-21C>A
|
rs753797445
|
|
NM_001042492.3(NF1):c.889A>C (p.Lys297Gln)
|
rs786202384
|
|
NM_001042492.3(NF1):c.901G>A (p.Asp301Asn)
|
rs2066505718
|
|
NM_001042492.3(NF1):c.923C>G (p.Ala308Gly)
|
rs876660836
|
|
NM_001042492.3(NF1):c.965T>C (p.Ile322Thr)
|
rs1417994243
|
|
NM_001042492.3(NF1):c.98A>G (p.Lys33Arg)
|
rs1555604887
|
|
NM_001065.3(TNFRSF1A):c.-284delC
|
rs140244212
|
|
NM_001065.4(TNFRSF1A):c.*394A>T
|
rs150426904
|
|
NM_001065.4(TNFRSF1A):c.-162T>C
|
rs886049751
|
|
NM_001065.4(TNFRSF1A):c.-82C>T
|
rs1948200491
|
|
NM_001065.4(TNFRSF1A):c.1000A>C (p.Ile334Leu)
|
rs1178535061
|
|
NM_001065.4(TNFRSF1A):c.1004C>A (p.Pro335His)
|
rs150408610
|
|
NM_001065.4(TNFRSF1A):c.1009C>G (p.Pro337Ala)
|
|
|
NM_001065.4(TNFRSF1A):c.1009C>T (p.Pro337Ser)
|
rs2136814221
|
|
NM_001065.4(TNFRSF1A):c.1025A>G (p.Glu342Gly)
|
rs2136814138
|
|
NM_001065.4(TNFRSF1A):c.1033G>A (p.Ala345Thr)
|
|
|
NM_001065.4(TNFRSF1A):c.1058-4G>C
|
rs369451569
|
|
NM_001065.4(TNFRSF1A):c.1072A>G (p.Thr358Ala)
|
rs200827709
|
|
NM_001065.4(TNFRSF1A):c.1081G>A (p.Ala361Thr)
|
|
|
NM_001065.4(TNFRSF1A):c.1083C>T (p.Ala361=)
|
rs746923911
|
|
NM_001065.4(TNFRSF1A):c.1091A>G (p.Glu364Gly)
|
rs1191537375
|
|
NM_001065.4(TNFRSF1A):c.1097T>A (p.Val366Glu)
|
|
|
NM_001065.4(TNFRSF1A):c.109A>T (p.Arg37Trp)
|
rs2136823158
|
|
NM_001065.4(TNFRSF1A):c.1108C>T (p.Arg370Cys)
|
|
|
NM_001065.4(TNFRSF1A):c.1115A>C (p.Lys372Thr)
|
rs1592043327
|
|
NM_001065.4(TNFRSF1A):c.112G>C (p.Glu38Gln)
|
|
|
NM_001065.4(TNFRSF1A):c.1160G>A (p.Arg387Gln)
|
|
|
NM_001065.4(TNFRSF1A):c.1165G>A (p.Glu389Lys)
|
|
|
NM_001065.4(TNFRSF1A):c.1177G>T (p.Gly393Trp)
|
rs898201669
|
|
NM_001065.4(TNFRSF1A):c.1180C>A (p.Arg394Ser)
|
|
|
NM_001065.4(TNFRSF1A):c.1222A>G (p.Arg408Gly)
|
|
|
NM_001065.4(TNFRSF1A):c.1235C>T (p.Pro412Leu)
|
|
|
NM_001065.4(TNFRSF1A):c.1247C>T (p.Ala416Val)
|
rs1350150713
|
|
NM_001065.4(TNFRSF1A):c.125G>C (p.Ser42Thr)
|
|
|
NM_001065.4(TNFRSF1A):c.1292T>C (p.Leu431Pro)
|
rs1947998142
|
|
NM_001065.4(TNFRSF1A):c.1318G>A (p.Ala440Thr)
|
|
|
NM_001065.4(TNFRSF1A):c.1322T>A (p.Leu441His)
|
rs2136812048
|
|
NM_001065.4(TNFRSF1A):c.1324T>A (p.Cys442Ser)
|
rs2136812027
|
|
NM_001065.4(TNFRSF1A):c.1327G>T (p.Gly443Cys)
|
rs749489763
|
|
NM_001065.4(TNFRSF1A):c.1343C>A (p.Pro448Gln)
|
|
|
NM_001065.4(TNFRSF1A):c.1343C>G (p.Pro448Arg)
|
|
|
NM_001065.4(TNFRSF1A):c.1349C>G (p.Ala450Gly)
|
rs1426121771
|
|
NM_001065.4(TNFRSF1A):c.1351C>T (p.Pro451Ser)
|
rs2136811861
|
|
NM_001065.4(TNFRSF1A):c.1354A>T (p.Ser452Cys)
|
rs200346150
|
|
NM_001065.4(TNFRSF1A):c.1356T>A (p.Ser452Arg)
|
rs886049750
|
|
NM_001065.4(TNFRSF1A):c.14C>A (p.Thr5Asn)
|
rs1948198919
|
|
NM_001065.4(TNFRSF1A):c.176G>A (p.Cys59Tyr)
|
rs104895223
|
|
NM_001065.4(TNFRSF1A):c.193+1G>C
|
|
|
NM_001065.4(TNFRSF1A):c.194-14G>C
|
|
|
NM_001065.4(TNFRSF1A):c.197C>T (p.Thr66Ile)
|
rs104895243
|
|
NM_001065.4(TNFRSF1A):c.208_210del (p.Asn70del)
|
rs2136822662
|
|
NM_001065.4(TNFRSF1A):c.209A>G (p.Asn70Ser)
|
rs1948084769
|
|
NM_001065.4(TNFRSF1A):c.212A>T (p.Asp71Val)
|
rs1592047919
|
|
NM_001065.4(TNFRSF1A):c.238G>A (p.Asp80Asn)
|
rs1948084094
|
|
NM_001065.4(TNFRSF1A):c.241T>G (p.Cys81Gly)
|
|
|
NM_001065.4(TNFRSF1A):c.243C>G (p.Cys81Trp)
|
rs56002980
|
|
NM_001065.4(TNFRSF1A):c.259G>A (p.Gly87Ser)
|
|
|
NM_001065.4(TNFRSF1A):c.265T>A (p.Phe89Ile)
|
rs104895245
|
|
NM_001065.4(TNFRSF1A):c.265T>C (p.Phe89Leu)
|
rs104895245
|
|
NM_001065.4(TNFRSF1A):c.268A>C (p.Thr90Pro)
|
rs1592047833
|
|
NM_001065.4(TNFRSF1A):c.271G>A (p.Ala91Thr)
|
rs1246512040
|
|
NM_001065.4(TNFRSF1A):c.280A>T (p.Asn94Tyr)
|
rs1948083279
|
|
NM_001065.4(TNFRSF1A):c.282C>G (p.Asn94Lys)
|
rs876661014
|
|
NM_001065.4(TNFRSF1A):c.291_302del (p.Arg97_Leu100del)
|
rs2136822397
|
|
NM_001065.4(TNFRSF1A):c.315C>G (p.Cys105Trp)
|
rs1565468122
|
|
NM_001065.4(TNFRSF1A):c.319A>C (p.Lys107Gln)
|
|
|
NM_001065.4(TNFRSF1A):c.323-3C>T
|
|
|
NM_001065.4(TNFRSF1A):c.337G>A (p.Glu113Lys)
|
|
|
NM_001065.4(TNFRSF1A):c.365A>G (p.Asp122Gly)
|
|
|
NM_001065.4(TNFRSF1A):c.386A>G (p.Lys129Arg)
|
|
|
NM_001065.4(TNFRSF1A):c.413A>G (p.Glu138Gly)
|
|
|
NM_001065.4(TNFRSF1A):c.428G>C (p.Cys143Ser)
|
rs1948077694
|
|
NM_001065.4(TNFRSF1A):c.455G>A (p.Gly152Glu)
|
|
|
NM_001065.4(TNFRSF1A):c.458C>T (p.Thr153Ile)
|
|
|
NM_001065.4(TNFRSF1A):c.472+6C>A
|
rs104895277
|
|
NM_001065.4(TNFRSF1A):c.472+6C>T
|
rs104895277
|
|
NM_001065.4(TNFRSF1A):c.472+7G>T
|
rs200194581
|
|
NM_001065.4(TNFRSF1A):c.473-36_473-15dup
|
rs1319256929
|
|
NM_001065.4(TNFRSF1A):c.48G>A (p.Leu16=)
|
|
|
NM_001065.4(TNFRSF1A):c.494T>C (p.Val165Ala)
|
rs2136821295
|
|
NM_001065.4(TNFRSF1A):c.49G>A (p.Glu17Lys)
|
rs1948090517
|
|
NM_001065.4(TNFRSF1A):c.506A>G (p.His169Arg)
|
rs1206840359
|
|
NM_001065.4(TNFRSF1A):c.551+6T>C
|
|
|
NM_001065.4(TNFRSF1A):c.560A>T (p.Lys187Ile)
|
rs1948042781
|
|
NM_001065.4(TNFRSF1A):c.575C>T (p.Thr192Met)
|
|
|
NM_001065.4(TNFRSF1A):c.584G>C (p.Cys195Ser)
|
rs2136817796
|
|
NM_001065.4(TNFRSF1A):c.58G>A (p.Val20Met)
|
|
|
NM_001065.4(TNFRSF1A):c.590C>G (p.Pro197Arg)
|
|
|
NM_001065.4(TNFRSF1A):c.603T>C (p.Asn201=)
|
rs780792039
|
|
NM_001065.4(TNFRSF1A):c.604G>A (p.Val202Ile)
|
rs1948041880
|
|
NM_001065.4(TNFRSF1A):c.605T>A (p.Val202Asp)
|
rs104895285
|
|
NM_001065.4(TNFRSF1A):c.607A>G (p.Lys203Glu)
|
rs2136817744
|
|
NM_001065.4(TNFRSF1A):c.609_620del (p.Lys203_Asp207delinsAsn)
|
|
|
NM_001065.4(TNFRSF1A):c.614C>A (p.Thr205Asn)
|
|
|
NM_001065.4(TNFRSF1A):c.626-6C>T
|
rs1275607339
|
|
NM_001065.4(TNFRSF1A):c.626G>T (p.Gly209Val)
|
|
|
NM_001065.4(TNFRSF1A):c.632_633delinsAG (p.Thr211Lys)
|
rs1948038834
|
|
NM_001065.4(TNFRSF1A):c.638T>C (p.Leu213Pro)
|
rs1948038793
|
|
NM_001065.4(TNFRSF1A):c.644C>T (p.Pro215Leu)
|
rs1948038665
|
|
NM_001065.4(TNFRSF1A):c.650T>C (p.Val217Ala)
|
rs1555107565
|
|
NM_001065.4(TNFRSF1A):c.679C>G (p.Leu227Val)
|
|
|
NM_001065.4(TNFRSF1A):c.706T>C (p.Tyr236His)
|
rs2136817274
|
|
NM_001065.4(TNFRSF1A):c.71C>A (p.Pro24His)
|
|
|
NM_001065.4(TNFRSF1A):c.739+5G>C
|
|
|
NM_001065.4(TNFRSF1A):c.739+6_739+9del
|
rs866809929
|
|
NM_001065.4(TNFRSF1A):c.740T>C (p.Val247Ala)
|
rs2136816306
|
|
NM_001065.4(TNFRSF1A):c.756A>G (p.Thr252=)
|
rs1948029493
|
|
NM_001065.4(TNFRSF1A):c.757C>G (p.Pro253Ala)
|
rs200710363
|
|
NM_001065.4(TNFRSF1A):c.769-5_769-4del
|
rs1948022227
|
|
NM_001065.4(TNFRSF1A):c.769G>C (p.Gly257Arg)
|
rs201623463
|
|
NM_001065.4(TNFRSF1A):c.769G>T (p.Gly257Trp)
|
|
|
NM_001065.4(TNFRSF1A):c.770G>C (p.Gly257Ala)
|
rs768572402
|
|
NM_001065.4(TNFRSF1A):c.774G>T (p.Glu258Asp)
|
|
|
NM_001065.4(TNFRSF1A):c.790A>G (p.Thr264Ala)
|
rs2136815417
|
|
NM_001065.4(TNFRSF1A):c.791C>A (p.Thr264Asn)
|
|
|
NM_001065.4(TNFRSF1A):c.796C>A (p.Pro266Thr)
|
|
|
NM_001065.4(TNFRSF1A):c.796C>T (p.Pro266Ser)
|
rs372067035
|
|
NM_001065.4(TNFRSF1A):c.811C>G (p.Pro271Ala)
|
rs202207247
|
|
NM_001065.4(TNFRSF1A):c.824C>T (p.Pro275Leu)
|
rs1473547216
|
|
NM_001065.4(TNFRSF1A):c.826_861del (p.Thr276_Pro287del)
|
rs760560928
|
|
NM_001065.4(TNFRSF1A):c.859C>G (p.Pro287Ala)
|
|
|
NM_001065.4(TNFRSF1A):c.865C>T (p.Pro289Ser)
|
|
|
NM_001065.4(TNFRSF1A):c.898A>G (p.Thr300Ala)
|
|
|
NM_001065.4(TNFRSF1A):c.901C>T (p.Pro301Ser)
|
|
|
NM_001065.4(TNFRSF1A):c.903dup (p.Gly302fs)
|
|
|
NM_001065.4(TNFRSF1A):c.918C>A (p.Asn306Lys)
|
|
|
NM_001065.4(TNFRSF1A):c.922G>T (p.Ala308Ser)
|
|
|
NM_001065.4(TNFRSF1A):c.929C>T (p.Pro310Leu)
|
|
|
NM_001065.4(TNFRSF1A):c.92T>G (p.Val31Gly)
|
rs763940329
|
|
NM_001065.4(TNFRSF1A):c.940G>A (p.Val314Met)
|
rs2136814639
|
|
NM_001065.4(TNFRSF1A):c.95C>G (p.Pro32Arg)
|
rs1592048275
|
|
NM_001065.4(TNFRSF1A):c.971T>C (p.Ile324Thr)
|
|
|
NM_001065.4(TNFRSF1A):c.974T>G (p.Leu325Arg)
|
|
|
NM_001065.4(TNFRSF1A):c.980C>T (p.Thr327Ile)
|
rs1948014776
|
|
NM_001083116.3(PRF1):c.132C>A (p.Ala44=)
|
rs181323749
|
|
NM_001083116.3(PRF1):c.225C>T (p.Leu75=)
|
rs2132478434
|
|
NM_001083116.3(PRF1):c.391G>T (p.Val131Phe)
|
rs761941942
|
|
NM_001083116.3(PRF1):c.402C>T (p.Asp134=)
|
rs564234285
|
|
NM_001083116.3(PRF1):c.481A>G (p.Lys161Glu)
|
rs1589233127
|
|
NM_001083116.3(PRF1):c.793A>C (p.Asn265His)
|
rs2132476420
|
|
NM_001083116.3(PRF1):c.865A>G (p.Thr289Ala)
|
rs2132476275
|
|
NM_001083603.3(PTCH1):c.109del (p.Cys37fs)
|
rs1554710890
|
|
NM_001084.5(PLOD3):c.1381A>C (p.Ile461Leu)
|
|
|
NM_001084.5(PLOD3):c.1684C>T (p.Pro562Ser)
|
rs369002471
|
|
NM_001084.5(PLOD3):c.700G>A (p.Asp234Asn)
|
rs1798215298
|
|
NM_001084.5(PLOD3):c.887C>G (p.Pro296Arg)
|
rs143577626
|
|
NM_001084.5(PLOD3):c.889C>G (p.Arg297Gly)
|
|
|
NM_001099.5(ACP3):c.849CAT[1] (p.Ile284del)
|
rs864309497
|
|
NM_001099857.5(IKBKG):c.51T>C (p.Ser17=)
|
|
|
NM_001099857.5(IKBKG):c.760C>G (p.Arg254Gly)
|
rs2148383298
|
|
NM_001102564.3(IFT43):c.143G>A (p.Gly48Glu)
|
rs780644030
|
|
NM_001110556.2(FLNA):c.1066-15C>A
|
rs1557179297
|
|
NM_001110556.2(FLNA):c.6199G>A (p.Glu2067Lys)
|
rs1557176102
|
|
NM_001111.5(ADAR):c.*1036C>G
|
rs886045327
|
|
NM_001111.5(ADAR):c.*1104T>C
|
rs886045326
|
|
NM_001111.5(ADAR):c.*110dup
|
rs886045337
|
|
NM_001111.5(ADAR):c.*1192C>T
|
rs931843098
|
|
NM_001111.5(ADAR):c.*1221C>T
|
rs1696549699
|
|
NM_001111.5(ADAR):c.*1322A>G
|
rs1237025828
|
|
NM_001111.5(ADAR):c.*1336A>G
|
rs1385402270
|
|
NM_001111.5(ADAR):c.*1566T>G
|
rs886045324
|
|
NM_001111.5(ADAR):c.*1712C>G
|
rs886045323
|
|
NM_001111.5(ADAR):c.*1799_*1800del
|
rs886045321
|
|
NM_001111.5(ADAR):c.*1919T>G
|
rs1198048286
|
|
NM_001111.5(ADAR):c.*206T>G
|
rs886045336
|
|
NM_001111.5(ADAR):c.*2134T>C
|
rs1696483286
|
|
NM_001111.5(ADAR):c.*2153T>C
|
rs1696482158
|
|
NM_001111.5(ADAR):c.*2323_*2330dup
|
rs113414804
|
|
NM_001111.5(ADAR):c.*2727dup
|
rs754401167
|
|
NM_001111.5(ADAR):c.*361C>G
|
rs886045333
|
|
NM_001111.5(ADAR):c.*519del
|
rs886045331
|
|
NM_001111.5(ADAR):c.*714G>A
|
rs886045329
|
|
NM_001111.5(ADAR):c.*749G>A
|
rs886045328
|
|
NM_001111.5(ADAR):c.1000C>G (p.Leu334Val)
|
rs1697885743
|
|
NM_001111.5(ADAR):c.1006G>A (p.Asp336Asn)
|
rs763575197
|
|
NM_001111.5(ADAR):c.1009A>G (p.Met337Val)
|
|
|
NM_001111.5(ADAR):c.1025A>T (p.Asp342Val)
|
|
|
NM_001111.5(ADAR):c.1027G>A (p.Val343Ile)
|
|
|
NM_001111.5(ADAR):c.1034G>A (p.Arg345Lys)
|
|
|
NM_001111.5(ADAR):c.1041G>T (p.Gly347=)
|
rs2101640517
|
|
NM_001111.5(ADAR):c.1042A>G (p.Thr348Ala)
|
rs1456341426
|
|
NM_001111.5(ADAR):c.1042A>T (p.Thr348Ser)
|
rs1456341426
|
|
NM_001111.5(ADAR):c.1046C>T (p.Thr349Ile)
|
|
|
NM_001111.5(ADAR):c.1051C>T (p.Pro351Ser)
|
rs1557886901
|
|
NM_001111.5(ADAR):c.1055T>C (p.Ile352Thr)
|
|
|
NM_001111.5(ADAR):c.1056A>G (p.Ile352Met)
|
|
|
NM_001111.5(ADAR):c.1063T>A (p.Leu355Met)
|
|
|
NM_001111.5(ADAR):c.1072AAG[1] (p.Lys359del)
|
|
|
NM_001111.5(ADAR):c.1073A>G (p.Lys358Arg)
|
|
|
NM_001111.5(ADAR):c.107C>T (p.Pro36Leu)
|
|
|
NM_001111.5(ADAR):c.1081G>A (p.Glu361Lys)
|
|
|
NM_001111.5(ADAR):c.1085G>A (p.Arg362Lys)
|
rs2101640193
|
|
NM_001111.5(ADAR):c.1089G>A (p.Met363Ile)
|
rs1697874197
|
|
NM_001111.5(ADAR):c.1099A>G (p.Arg367Gly)
|
|
|
NM_001111.5(ADAR):c.1103A>G (p.Asn368Ser)
|
|
|
NM_001111.5(ADAR):c.1103A>T (p.Asn368Ile)
|
rs1553213121
|
|
NM_001111.5(ADAR):c.1106C>G (p.Thr369Arg)
|
rs958924655
|
|
NM_001111.5(ADAR):c.1106C>T (p.Thr369Met)
|
rs958924655
|
|
NM_001111.5(ADAR):c.1108A>G (p.Asn370Asp)
|
|
|
NM_001111.5(ADAR):c.110G>T (p.Ser37Ile)
|
|
|
NM_001111.5(ADAR):c.1110C>G (p.Asn370Lys)
|
rs1222101959
|
|
NM_001111.5(ADAR):c.1112G>A (p.Ser371Asn)
|
|
|
NM_001111.5(ADAR):c.1113T>C (p.Ser371=)
|
rs780284489
|
|
NM_001111.5(ADAR):c.1126G>A (p.Ala376Thr)
|
|
|
NM_001111.5(ADAR):c.1126G>T (p.Ala376Ser)
|
|
|
NM_001111.5(ADAR):c.1129C>G (p.Pro377Ala)
|
rs1571107810
|
|
NM_001111.5(ADAR):c.112A>T (p.Ser38Cys)
|
|
|
NM_001111.5(ADAR):c.1132G>T (p.Ala378Ser)
|
|
|
NM_001111.5(ADAR):c.1138A>G (p.Ile380Val)
|
|
|
NM_001111.5(ADAR):c.1146G>C (p.Glu382Asp)
|
|
|
NM_001111.5(ADAR):c.1154G>A (p.Arg385Lys)
|
|
|
NM_001111.5(ADAR):c.115T>G (p.Phe39Val)
|
rs1697956017
|
|
NM_001111.5(ADAR):c.1163A>G (p.Glu388Gly)
|
|
|
NM_001111.5(ADAR):c.1168C>T (p.Leu390Phe)
|
|
|
NM_001111.5(ADAR):c.116T>G (p.Phe39Cys)
|
|
|
NM_001111.5(ADAR):c.1171A>G (p.Thr391Ala)
|
|
|
NM_001111.5(ADAR):c.1175G>A (p.Cys392Tyr)
|
|
|
NM_001111.5(ADAR):c.1178A>G (p.Asn393Ser)
|
rs1697865468
|
|
NM_001111.5(ADAR):c.1180A>G (p.Ile394Val)
|
|
|
NM_001111.5(ADAR):c.1193A>G (p.Asn398Ser)
|
|
|
NM_001111.5(ADAR):c.11G>C (p.Arg4Pro)
|
|
|
NM_001111.5(ADAR):c.1208T>C (p.Met403Thr)
|
rs2101639346
|
|
NM_001111.5(ADAR):c.1209G>A (p.Met403Ile)
|
|
|
NM_001111.5(ADAR):c.1210G>A (p.Val404Ile)
|
|
|
NM_001111.5(ADAR):c.1211T>C (p.Val404Ala)
|
rs2101639317
|
|
NM_001111.5(ADAR):c.1213A>G (p.Thr405Ala)
|
|
|
NM_001111.5(ADAR):c.1217C>G (p.Thr406Arg)
|
rs1571107399
|
|
NM_001111.5(ADAR):c.1222A>G (p.Lys408Glu)
|
|
|
NM_001111.5(ADAR):c.1223A>G (p.Lys408Arg)
|
|
|
NM_001111.5(ADAR):c.122T>C (p.Leu41Pro)
|
|
|
NM_001111.5(ADAR):c.1232A>C (p.Asn411Thr)
|
|
|
NM_001111.5(ADAR):c.1241A>C (p.Glu414Ala)
|
|
|
NM_001111.5(ADAR):c.1246G>A (p.Val416Ile)
|
|
|
NM_001111.5(ADAR):c.1257A>C (p.Leu419Phe)
|
rs1697861504
|
|
NM_001111.5(ADAR):c.1267C>G (p.Gln423Glu)
|
rs1697861124
|
|
NM_001111.5(ADAR):c.1274C>T (p.Ala425Val)
|
|
|
NM_001111.5(ADAR):c.127C>G (p.Gln43Glu)
|
rs1697954006
|
|
NM_001111.5(ADAR):c.1300C>G (p.Pro434Ala)
|
|
|
NM_001111.5(ADAR):c.1300C>T (p.Pro434Ser)
|
rs749677748
|
|
NM_001111.5(ADAR):c.1304C>T (p.Pro435Leu)
|
|
|
NM_001111.5(ADAR):c.130A>G (p.Ile44Val)
|
|
|
NM_001111.5(ADAR):c.1313A>G (p.Tyr438Cys)
|
rs1571107070
|
|
NM_001111.5(ADAR):c.1319G>A (p.Gly440Asp)
|
rs1274234563
|
|
NM_001111.5(ADAR):c.1319G>T (p.Gly440Val)
|
|
|
NM_001111.5(ADAR):c.1322C>T (p.Pro441Leu)
|
|
|
NM_001111.5(ADAR):c.1327A>G (p.Lys443Glu)
|
rs1697857226
|
|
NM_001111.5(ADAR):c.134A>T (p.Glu45Val)
|
|
|
NM_001111.5(ADAR):c.1370A>G (p.Asp457Gly)
|
|
|
NM_001111.5(ADAR):c.1372G>A (p.Asp458Asn)
|
rs759763367
|
|
NM_001111.5(ADAR):c.1399C>T (p.Arg467Cys)
|
|
|
NM_001111.5(ADAR):c.1402G>T (p.Ala468Ser)
|
rs761708272
|
|
NM_001111.5(ADAR):c.1405G>T (p.Ala469Ser)
|
rs886045343
|
|
NM_001111.5(ADAR):c.142A>G (p.Lys48Glu)
|
|
|
NM_001111.5(ADAR):c.1437G>T (p.Met479Ile)
|
rs2101638407
|
|
NM_001111.5(ADAR):c.1445T>C (p.Phe482Ser)
|
|
|
NM_001111.5(ADAR):c.1450A>G (p.Ser484Gly)
|
rs886045342
|
|
NM_001111.5(ADAR):c.1454A>G (p.His485Arg)
|
|
|
NM_001111.5(ADAR):c.1462C>A (p.Pro488Thr)
|
|
|
NM_001111.5(ADAR):c.1465C>T (p.Arg489Trp)
|
|
|
NM_001111.5(ADAR):c.1466G>C (p.Arg489Pro)
|
|
|
NM_001111.5(ADAR):c.1468T>A (p.Cys490Ser)
|
|
|
NM_001111.5(ADAR):c.1472C>T (p.Ser491Leu)
|
|
|
NM_001111.5(ADAR):c.1475C>T (p.Pro492Leu)
|
rs1697847597
|
|
NM_001111.5(ADAR):c.1478A>G (p.Tyr493Cys)
|
rs1697847223
|
|
NM_001111.5(ADAR):c.1480A>G (p.Lys494Glu)
|
rs2101638093
|
|
NM_001111.5(ADAR):c.1490C>T (p.Thr497Ile)
|
|
|
NM_001111.5(ADAR):c.14A>G (p.Gln5Arg)
|
|
|
NM_001111.5(ADAR):c.15+4A>G
|
rs2101670089
|
|
NM_001111.5(ADAR):c.15+6C>G
|
|
|
NM_001111.5(ADAR):c.15+6C>T
|
rs1698312357
|
|
NM_001111.5(ADAR):c.1526T>C (p.Leu509Ser)
|
rs1697844160
|
|
NM_001111.5(ADAR):c.1534G>A (p.Ala512Thr)
|
rs2101637881
|
|
NM_001111.5(ADAR):c.1543G>A (p.Ala515Thr)
|
rs200830156
|
|
NM_001111.5(ADAR):c.1547G>A (p.Ser516Asn)
|
rs1457807318
|
|
NM_001111.5(ADAR):c.1565A>G (p.Asn522Ser)
|
|
|
NM_001111.5(ADAR):c.1569G>A (p.Met523Ile)
|
|
|
NM_001111.5(ADAR):c.1570A>G (p.Ile524Val)
|
|
|
NM_001111.5(ADAR):c.1577A>G (p.Gln526Arg)
|
rs770224427
|
|
NM_001111.5(ADAR):c.1613A>G (p.Gln538Arg)
|
rs1571096481
|
|
NM_001111.5(ADAR):c.1631G>A (p.Arg544Gln)
|
|
|
NM_001111.5(ADAR):c.1634A>G (p.Glu545Gly)
|
|
|
NM_001111.5(ADAR):c.1636T>C (p.Phe546Leu)
|
|
|
NM_001111.5(ADAR):c.1645G>A (p.Ala549Thr)
|
rs892495161
|
|
NM_001111.5(ADAR):c.1646C>G (p.Ala549Gly)
|
|
|
NM_001111.5(ADAR):c.1660A>G (p.Lys554Glu)
|
|
|
NM_001111.5(ADAR):c.1667T>C (p.Val556Ala)
|
|
|
NM_001111.5(ADAR):c.1679A>T (p.Asp560Val)
|
|
|
NM_001111.5(ADAR):c.1681G>A (p.Ala561Thr)
|
|
|
NM_001111.5(ADAR):c.1687A>C (p.Met563Leu)
|
|
|
NM_001111.5(ADAR):c.1687A>G (p.Met563Val)
|
|
|
NM_001111.5(ADAR):c.1696A>T (p.Met566Leu)
|
rs777616553
|
|
NM_001111.5(ADAR):c.1700C>A (p.Thr567Lys)
|
rs1205545887
|
|
NM_001111.5(ADAR):c.1700C>G (p.Thr567Arg)
|
|
|
NM_001111.5(ADAR):c.1705C>G (p.Leu569Val)
|
|
|
NM_001111.5(ADAR):c.1735G>A (p.Gly579Arg)
|
rs2101626436
|
|
NM_001111.5(ADAR):c.1739A>G (p.Lys580Arg)
|
|
|
NM_001111.5(ADAR):c.1740A>T (p.Lys580Asn)
|
rs2101626421
|
|
NM_001111.5(ADAR):c.1749ATC[1] (p.Ser585del)
|
rs17843870
|
|
NM_001111.5(ADAR):c.1754C>T (p.Ser585Phe)
|
|
|
NM_001111.5(ADAR):c.1757A>G (p.His586Arg)
|
|
|
NM_001111.5(ADAR):c.1760A>C (p.Tyr587Ser)
|
|
|
NM_001111.5(ADAR):c.1760A>T (p.Tyr587Phe)
|
rs17843865
|
|
NM_001111.5(ADAR):c.1768G>C (p.Glu590Gln)
|
rs772602893
|
|
NM_001111.5(ADAR):c.1774G>A (p.Glu592Lys)
|
|
|
NM_001111.5(ADAR):c.1780G>A (p.Glu594Lys)
|
rs1203572202
|
|
NM_001111.5(ADAR):c.1785+3A>G
|
|
|
NM_001111.5(ADAR):c.1785+4G>A
|
rs1571095587
|
|
NM_001111.5(ADAR):c.1785G>A (p.Lys595=)
|
|
|
NM_001111.5(ADAR):c.1795_1806del (p.Ser599_Pro602del)
|
|
|
NM_001111.5(ADAR):c.17G>C (p.Gly6Ala)
|
|
|
NM_001111.5(ADAR):c.1820C>T (p.Thr607Ile)
|
|
|
NM_001111.5(ADAR):c.1824CTT[1] (p.Phe610del)
|
rs759833046
|
|
NM_001111.5(ADAR):c.1825T>C (p.Phe609Leu)
|
|
|
NM_001111.5(ADAR):c.1826T>C (p.Phe609Ser)
|
|
|
NM_001111.5(ADAR):c.1833T>A (p.Ser611=)
|
|
|
NM_001111.5(ADAR):c.1835G>A (p.Gly612Glu)
|
|
|
NM_001111.5(ADAR):c.1841G>A (p.Ser614Asn)
|
rs766823464
|
|
NM_001111.5(ADAR):c.1846G>T (p.Val616Phe)
|
rs570647049
|
|
NM_001111.5(ADAR):c.1865G>A (p.Cys622Tyr)
|
rs776484151
|
|
NM_001111.5(ADAR):c.1871A>G (p.His624Arg)
|
rs1423795702
|
|
NM_001111.5(ADAR):c.1874A>G (p.Lys625Arg)
|
|
|
NM_001111.5(ADAR):c.1888T>C (p.Cys630Arg)
|
|
|
NM_001111.5(ADAR):c.1891G>A (p.Glu631Lys)
|
rs756241513
|
|
NM_001111.5(ADAR):c.1897C>G (p.Arg633Gly)
|
rs1222149445
|
|
NM_001111.5(ADAR):c.1910A>G (p.Lys637Arg)
|
rs886045341
|
|
NM_001111.5(ADAR):c.1912G>C (p.Glu638Gln)
|
|
|
NM_001111.5(ADAR):c.1916G>T (p.Gly639Val)
|
rs979268518
|
|
NM_001111.5(ADAR):c.1924C>T (p.His642Tyr)
|
|
|
NM_001111.5(ADAR):c.1925A>G (p.His642Arg)
|
|
|
NM_001111.5(ADAR):c.1934+4T>C
|
|
|
NM_001111.5(ADAR):c.1934+8C>G
|
|
|
NM_001111.5(ADAR):c.1944C>T (p.Tyr648=)
|
|
|
NM_001111.5(ADAR):c.1946G>A (p.Cys649Tyr)
|
|
|
NM_001111.5(ADAR):c.1981A>C (p.Ser661Arg)
|
|
|
NM_001111.5(ADAR):c.1984G>A (p.Ala662Thr)
|
|
|
NM_001111.5(ADAR):c.1987C>T (p.Pro663Ser)
|
rs763748775
|
|
NM_001111.5(ADAR):c.1993A>C (p.Lys665Gln)
|
|
|
NM_001111.5(ADAR):c.1999G>A (p.Val667Met)
|
|
|
NM_001111.5(ADAR):c.1A>G (p.Met1Val)
|
rs1698314927
|
|
NM_001111.5(ADAR):c.2018C>A (p.Ala673Glu)
|
rs2101620970
|
|
NM_001111.5(ADAR):c.2026G>A (p.Ala676Thr)
|
rs2101620927
|
|
NM_001111.5(ADAR):c.202C>G (p.Leu68Val)
|
rs1280361409
|
|
NM_001111.5(ADAR):c.2030T>C (p.Met677Thr)
|
|
|
NM_001111.5(ADAR):c.2034G>C (p.Lys678Asn)
|
|
|
NM_001111.5(ADAR):c.2035G>A (p.Ala679Thr)
|
|
|
NM_001111.5(ADAR):c.2051C>T (p.Ala684Val)
|
rs776658787
|
|
NM_001111.5(ADAR):c.2054C>T (p.Thr685Ile)
|
|
|
NM_001111.5(ADAR):c.205C>T (p.Pro69Ser)
|
|
|
NM_001111.5(ADAR):c.2069C>T (p.Ser690Phe)
|
rs1697555171
|
|
NM_001111.5(ADAR):c.2071G>A (p.Asp691Asn)
|
|
|
NM_001111.5(ADAR):c.2080-11T>G
|
|
|
NM_001111.5(ADAR):c.2080-3T>C
|
rs372190707
|
|
NM_001111.5(ADAR):c.2080-6C>T
|
|
|
NM_001111.5(ADAR):c.2082T>A (p.Pro694=)
|
|
|
NM_001111.5(ADAR):c.2083G>C (p.Glu695Gln)
|
rs1329989151
|
|
NM_001111.5(ADAR):c.2086G>A (p.Gly696Ser)
|
|
|
NM_001111.5(ADAR):c.2087G>A (p.Gly696Asp)
|
|
|
NM_001111.5(ADAR):c.2089A>G (p.Met697Val)
|
rs754593004
|
|
NM_001111.5(ADAR):c.2099A>G (p.Glu700Gly)
|
rs527888465
|
|
NM_001111.5(ADAR):c.20A>G (p.Tyr7Cys)
|
|
|
NM_001111.5(ADAR):c.2104C>T (p.Leu702Phe)
|
rs2101619925
|
|
NM_001111.5(ADAR):c.2108A>C (p.Asp703Ala)
|
rs2101619884
|
|
NM_001111.5(ADAR):c.2112C>G (p.Asn704Lys)
|
|
|
NM_001111.5(ADAR):c.2115G>C (p.Leu705Phe)
|
|
|
NM_001111.5(ADAR):c.2122A>C (p.Met708Leu)
|
rs548493468
|
|
NM_001111.5(ADAR):c.2130CAA[1] (p.Asn711del)
|
|
|
NM_001111.5(ADAR):c.2131A>C (p.Asn711His)
|
rs2101619763
|
|
NM_001111.5(ADAR):c.214C>T (p.Arg72Trp)
|
|
|
NM_001111.5(ADAR):c.2156T>C (p.Leu719Pro)
|
|
|
NM_001111.5(ADAR):c.2158G>A (p.Val720Met)
|
|
|
NM_001111.5(ADAR):c.2158G>C (p.Val720Leu)
|
rs759837017
|
|
NM_001111.5(ADAR):c.2179C>T (p.Pro727Ser)
|
rs2101619511
|
|
NM_001111.5(ADAR):c.2191C>G (p.Leu731Val)
|
|
|
NM_001111.5(ADAR):c.2199G>T (p.Glu733Asp)
|
|
|
NM_001111.5(ADAR):c.2203G>A (p.Ala735Thr)
|
rs2101619399
|
|
NM_001111.5(ADAR):c.2213A>G (p.His738Arg)
|
|
|
NM_001111.5(ADAR):c.2216G>A (p.Gly739Asp)
|
rs2101619310
|
|
NM_001111.5(ADAR):c.221G>A (p.Arg74Lys)
|
|
|
NM_001111.5(ADAR):c.2224G>A (p.Ala742Thr)
|
rs2101619298
|
|
NM_001111.5(ADAR):c.224T>G (p.Phe75Cys)
|
rs886045345
|
|
NM_001111.5(ADAR):c.2270+10C>T
|
rs1697527897
|
|
NM_001111.5(ADAR):c.2270A>G (p.Lys757Arg)
|
rs1159795340
|
|
NM_001111.5(ADAR):c.227C>T (p.Pro76Leu)
|
rs1181329844
|
|
NM_001111.5(ADAR):c.2282A>T (p.Gln761Leu)
|
|
|
NM_001111.5(ADAR):c.229G>A (p.Val77Ile)
|
|
|
NM_001111.5(ADAR):c.22T>A (p.Ser8Thr)
|
|
|
NM_001111.5(ADAR):c.2302T>C (p.Trp768Arg)
|
rs1697065372
|
|
NM_001111.5(ADAR):c.2306T>A (p.Phe769Tyr)
|
|
|
NM_001111.5(ADAR):c.2306T>C (p.Phe769Ser)
|
rs886045340
|
|
NM_001111.5(ADAR):c.2321C>T (p.Ala774Val)
|
|
|
NM_001111.5(ADAR):c.232C>G (p.Leu78Val)
|
|
|
NM_001111.5(ADAR):c.2330A>G (p.Lys777Arg)
|
rs1197574959
|
|
NM_001111.5(ADAR):c.2359G>A (p.Ala787Thr)
|
|
|
NM_001111.5(ADAR):c.2376G>T (p.Leu792Phe)
|
|
|
NM_001111.5(ADAR):c.2378T>C (p.Ile793Thr)
|
|
|
NM_001111.5(ADAR):c.2384A>G (p.Glu795Gly)
|
|
|
NM_001111.5(ADAR):c.2388C>A (p.Asn796Lys)
|
rs1251582638
|
|
NM_001111.5(ADAR):c.2388C>G (p.Asn796Lys)
|
|
|
NM_001111.5(ADAR):c.2398G>A (p.Glu800Lys)
|
|
|
NM_001111.5(ADAR):c.2399A>G (p.Glu800Gly)
|
rs1697057806
|
|
NM_001111.5(ADAR):c.2401C>G (p.Arg801Gly)
|
|
|
NM_001111.5(ADAR):c.2401C>T (p.Arg801Cys)
|
|
|
NM_001111.5(ADAR):c.2402G>A (p.Arg801His)
|
rs1697057369
|
|
NM_001111.5(ADAR):c.2410T>A (p.Phe804Ile)
|
|
|
NM_001111.5(ADAR):c.2413A>G (p.Thr805Ala)
|
|
|
NM_001111.5(ADAR):c.2413A>T (p.Thr805Ser)
|
rs1325328855
|
|
NM_001111.5(ADAR):c.2453C>G (p.Thr818Ser)
|
rs2101588346
|
|
NM_001111.5(ADAR):c.2458CTC[2] (p.Leu822del)
|
|
|
NM_001111.5(ADAR):c.2467T>G (p.Ser823Ala)
|
|
|
NM_001111.5(ADAR):c.2476C>T (p.Pro826Ser)
|
|
|
NM_001111.5(ADAR):c.2488C>T (p.Pro830Ser)
|
|
|
NM_001111.5(ADAR):c.2489C>T (p.Pro830Leu)
|
rs1232214809
|
|
NM_001111.5(ADAR):c.2497-3C>T
|
|
|
NM_001111.5(ADAR):c.2501C>T (p.Pro834Leu)
|
|
|
NM_001111.5(ADAR):c.2509G>A (p.Gly837Ser)
|
|
|
NM_001111.5(ADAR):c.2513G>C (p.Ser838Thr)
|
rs2101585930
|
|
NM_001111.5(ADAR):c.2524G>C (p.Asp842His)
|
rs2101585854
|
|
NM_001111.5(ADAR):c.2536A>G (p.Met846Val)
|
|
|
NM_001111.5(ADAR):c.2554T>G (p.Phe852Val)
|
rs2101585739
|
|
NM_001111.5(ADAR):c.2560A>T (p.Thr854Ser)
|
rs1697011861
|
|
NM_001111.5(ADAR):c.2563C>G (p.Leu855Val)
|
|
|
NM_001111.5(ADAR):c.258G>C (p.Arg86Ser)
|
|
|
NM_001111.5(ADAR):c.2596C>T (p.Arg866Cys)
|
|
|
NM_001111.5(ADAR):c.2597G>A (p.Arg866His)
|
rs770937947
|
|
NM_001111.5(ADAR):c.2612C>T (p.Ala871Val)
|
rs748430309
|
|
NM_001111.5(ADAR):c.2618T>C (p.Ile873Thr)
|
rs2101585327
|
|
NM_001111.5(ADAR):c.261A>G (p.Gln87=)
|
|
|
NM_001111.5(ADAR):c.2624A>G (p.Lys875Arg)
|
|
|
NM_001111.5(ADAR):c.2643G>C (p.Met881Ile)
|
|
|
NM_001111.5(ADAR):c.2650G>A (p.Val884Ile)
|
|
|
NM_001111.5(ADAR):c.2653G>A (p.Val885Ile)
|
|
|
NM_001111.5(ADAR):c.2662G>C (p.Gly888Arg)
|
|
|
NM_001111.5(ADAR):c.2668+4A>G
|
rs2101584990
|
|
NM_001111.5(ADAR):c.2668+6T>G
|
|
|
NM_001111.5(ADAR):c.2675G>A (p.Arg892His)
|
rs398122892
|
|
NM_001111.5(ADAR):c.2693C>G (p.Ser898Cys)
|
|
|
NM_001111.5(ADAR):c.2699G>T (p.Ser900Ile)
|
rs1415969306
|
|
NM_001111.5(ADAR):c.271A>G (p.Arg91Gly)
|
|
|
NM_001111.5(ADAR):c.2720A>G (p.Asn907Ser)
|
rs1696974967
|
|
NM_001111.5(ADAR):c.2722G>T (p.Asp908Tyr)
|
rs1557869750
|
|
NM_001111.5(ADAR):c.2723A>G (p.Asp908Gly)
|
|
|
NM_001111.5(ADAR):c.2738T>C (p.Ile913Thr)
|
|
|
NM_001111.5(ADAR):c.2746C>G (p.Arg916Gly)
|
rs2101582935
|
|
NM_001111.5(ADAR):c.2746C>T (p.Arg916Trp)
|
|
|
NM_001111.5(ADAR):c.2747G>A (p.Arg916Gln)
|
rs754785131
|
|
NM_001111.5(ADAR):c.2758A>C (p.Ile920Leu)
|
|
|
NM_001111.5(ADAR):c.2758A>G (p.Ile920Val)
|
|
|
NM_001111.5(ADAR):c.275G>T (p.Gly92Val)
|
|
|
NM_001111.5(ADAR):c.2762+6C>G
|
rs371450928
|
|
NM_001111.5(ADAR):c.2762+9G>A
|
|
|
NM_001111.5(ADAR):c.2763-10_2763-7del
|
rs2101579220
|
|
NM_001111.5(ADAR):c.2763-7T>C
|
rs1696928206
|
|
NM_001111.5(ADAR):c.2785A>C (p.Lys929Gln)
|
rs1696926150
|
|
NM_001111.5(ADAR):c.2786A>C (p.Lys929Thr)
|
|
|
NM_001111.5(ADAR):c.2788T>C (p.Tyr930His)
|
|
|
NM_001111.5(ADAR):c.2795C>G (p.Ser932Cys)
|
rs886082285
|
|
NM_001111.5(ADAR):c.2795C>T (p.Ser932Phe)
|
rs886082285
|
|
NM_001111.5(ADAR):c.2798A>G (p.Gln933Arg)
|
rs1696924755
|
|
NM_001111.5(ADAR):c.2799G>T (p.Gln933His)
|
|
|
NM_001111.5(ADAR):c.2803G>C (p.Ala935Pro)
|
rs1435318350
|
|
NM_001111.5(ADAR):c.2824C>T (p.Pro942Ser)
|
rs1054969472
|
|
NM_001111.5(ADAR):c.2830A>C (p.Lys944Gln)
|
rs373564780
|
|
NM_001111.5(ADAR):c.2832G>T (p.Lys944Asn)
|
|
|
NM_001111.5(ADAR):c.283A>G (p.Arg95Gly)
|
|
|
NM_001111.5(ADAR):c.2840A>C (p.Glu947Ala)
|
|
|
NM_001111.5(ADAR):c.2842A>G (p.Lys948Glu)
|
rs2101578630
|
|
NM_001111.5(ADAR):c.2872C>T (p.His958Tyr)
|
|
|
NM_001111.5(ADAR):c.2879A>G (p.Tyr960Cys)
|
|
|
NM_001111.5(ADAR):c.287G>C (p.Gly96Ala)
|
|
|
NM_001111.5(ADAR):c.287G>T (p.Gly96Val)
|
|
|
NM_001111.5(ADAR):c.2893C>T (p.Pro965Ser)
|
|
|
NM_001111.5(ADAR):c.2894C>T (p.Pro965Leu)
|
|
|
NM_001111.5(ADAR):c.289G>A (p.Val97Met)
|
|
|
NM_001111.5(ADAR):c.2908G>A (p.Ala970Thr)
|
|
|
NM_001111.5(ADAR):c.2912T>G (p.Leu971Arg)
|
|
|
NM_001111.5(ADAR):c.2926_2928del (p.Cys976del)
|
rs2101576453
|
|
NM_001111.5(ADAR):c.292C>T (p.His98Tyr)
|
|
|
NM_001111.5(ADAR):c.2939C>T (p.Ala980Val)
|
|
|
NM_001111.5(ADAR):c.293A>G (p.His98Arg)
|
|
|
NM_001111.5(ADAR):c.2941A>G (p.Met981Val)
|
|
|
NM_001111.5(ADAR):c.2945A>C (p.Glu982Ala)
|
|
|
NM_001111.5(ADAR):c.2951C>G (p.Thr984Arg)
|
|
|
NM_001111.5(ADAR):c.2954A>G (p.Glu985Gly)
|
|
|
NM_001111.5(ADAR):c.2957C>T (p.Ser986Phe)
|
rs777129140
|
|
NM_001111.5(ADAR):c.2959C>T (p.Arg987Cys)
|
|
|
NM_001111.5(ADAR):c.2963A>G (p.His988Arg)
|
|
|
NM_001111.5(ADAR):c.2966A>G (p.Tyr989Cys)
|
|
|
NM_001111.5(ADAR):c.298_299delinsGC (p.Arg100Ala)
|
|
|
NM_001111.5(ADAR):c.3001C>T (p.Arg1001Cys)
|
|
|
NM_001111.5(ADAR):c.3002G>A (p.Arg1001His)
|
rs1571058184
|
|
NM_001111.5(ADAR):c.3007A>G (p.Lys1003Glu)
|
|
|
NM_001111.5(ADAR):c.3019+4A>G
|
rs2101575711
|
|
NM_001111.5(ADAR):c.3020-10T>G
|
|
|
NM_001111.5(ADAR):c.3025G>T (p.Gly1009Cys)
|
rs2101567036
|
|
NM_001111.5(ADAR):c.3029C>T (p.Thr1010Ile)
|
|
|
NM_001111.5(ADAR):c.303T>G (p.Ser101Arg)
|
|
|
NM_001111.5(ADAR):c.3049G>A (p.Asp1017Asn)
|
|
|
NM_001111.5(ADAR):c.3052A>G (p.Ile1018Val)
|
rs1696761288
|
|
NM_001111.5(ADAR):c.3055G>A (p.Val1019Met)
|
rs1696760657
|
|
NM_001111.5(ADAR):c.305A>G (p.Gln102Arg)
|
rs1697938546
|
|
NM_001111.5(ADAR):c.3062C>T (p.Thr1021Met)
|
rs772773296
|
|
NM_001111.5(ADAR):c.3064T>C (p.Trp1022Arg)
|
|
|
NM_001111.5(ADAR):c.3067G>A (p.Asp1023Asn)
|
rs1696759083
|
|
NM_001111.5(ADAR):c.3076C>T (p.Arg1026Trp)
|
|
|
NM_001111.5(ADAR):c.3077G>A (p.Arg1026Gln)
|
|
|
NM_001111.5(ADAR):c.3081C>T (p.Leu1027=)
|
rs145851568
|
|
NM_001111.5(ADAR):c.308G>A (p.Gly103Glu)
|
|
|
NM_001111.5(ADAR):c.3092T>G (p.Leu1031Arg)
|
rs2101566565
|
|
NM_001111.5(ADAR):c.3094_3095delinsTA (p.Arg1032Tyr)
|
rs2101566531
|
|
NM_001111.5(ADAR):c.3101T>C (p.Met1034Thr)
|
rs2101566489
|
|
NM_001111.5(ADAR):c.3107G>A (p.Cys1036Tyr)
|
rs761590986
|
|
NM_001111.5(ADAR):c.3116A>C (p.Lys1039Thr)
|
|
|
NM_001111.5(ADAR):c.3116A>G (p.Lys1039Arg)
|
|
|
NM_001111.5(ADAR):c.3124C>T (p.Arg1042Cys)
|
rs779004315
|
|
NM_001111.5(ADAR):c.3152C>G (p.Ala1051Gly)
|
|
|
NM_001111.5(ADAR):c.3168C>G (p.Phe1056Leu)
|
|
|
NM_001111.5(ADAR):c.3188A>G (p.Lys1063Arg)
|
|
|
NM_001111.5(ADAR):c.3202+6G>A
|
|
|
NM_001111.5(ADAR):c.320G>A (p.Gly107Glu)
|
|
|
NM_001111.5(ADAR):c.320G>T (p.Gly107Val)
|
|
|
NM_001111.5(ADAR):c.3223C>T (p.His1075Tyr)
|
rs2101563703
|
|
NM_001111.5(ADAR):c.3230C>A (p.Thr1077Asn)
|
|
|
NM_001111.5(ADAR):c.3233G>A (p.Arg1078His)
|
|
|
NM_001111.5(ADAR):c.3233G>C (p.Arg1078Pro)
|
|
|
NM_001111.5(ADAR):c.3248G>A (p.Arg1083His)
|
rs1363826622
|
|
NM_001111.5(ADAR):c.3278A>G (p.Asp1093Gly)
|
rs1696719202
|
|
NM_001111.5(ADAR):c.3279T>G (p.Asp1093Glu)
|
|
|
NM_001111.5(ADAR):c.3286C>G (p.Arg1096Gly)
|
rs769148365
|
|
NM_001111.5(ADAR):c.3287G>A (p.Arg1096Gln)
|
rs747462052
|
|
NM_001111.5(ADAR):c.3289C>T (p.His1097Tyr)
|
rs200537032
|
|
NM_001111.5(ADAR):c.328C>T (p.His110Tyr)
|
|
|
NM_001111.5(ADAR):c.3290A>G (p.His1097Arg)
|
|
|
NM_001111.5(ADAR):c.329A>G (p.His110Arg)
|
|
|
NM_001111.5(ADAR):c.3301G>A (p.Val1101Ile)
|
|
|
NM_001111.5(ADAR):c.3301G>T (p.Val1101Phe)
|
rs2101563031
|
|
NM_001111.5(ADAR):c.3315+6A>C
|
|
|
NM_001111.5(ADAR):c.3331A>G (p.Ile1111Val)
|
rs536100209
|
|
NM_001111.5(ADAR):c.3334T>C (p.Tyr1112His)
|
|
|
NM_001111.5(ADAR):c.3340T>A (p.Ser1114Thr)
|
|
|
NM_001111.5(ADAR):c.3343A>C (p.Lys1115Gln)
|
|
|
NM_001111.5(ADAR):c.3344A>G (p.Lys1115Arg)
|
|
|
NM_001111.5(ADAR):c.335C>T (p.Ser112Leu)
|
|
|
NM_001111.5(ADAR):c.3360G>C (p.Lys1120Asn)
|
rs1696677352
|
|
NM_001111.5(ADAR):c.3376G>C (p.Val1126Leu)
|
rs1571046840
|
|
NM_001111.5(ADAR):c.337C>G (p.Pro113Ala)
|
|
|
NM_001111.5(ADAR):c.3380A>G (p.Asn1127Ser)
|
|
|
NM_001111.5(ADAR):c.3386G>A (p.Cys1129Tyr)
|
|
|
NM_001111.5(ADAR):c.3386G>T (p.Cys1129Phe)
|
|
|
NM_001111.5(ADAR):c.3404A>G (p.Asp1135Gly)
|
|
|
NM_001111.5(ADAR):c.3421G>A (p.Gly1141Ser)
|
|
|
NM_001111.5(ADAR):c.3430G>A (p.Gly1144Ser)
|
|
|
NM_001111.5(ADAR):c.3432C>G (p.Gly1144=)
|
rs568610646
|
|
NM_001111.5(ADAR):c.3443+3A>T
|
rs746915200
|
|
NM_001111.5(ADAR):c.3444G>A (p.Gly1148=)
|
rs2101558286
|
|
NM_001111.5(ADAR):c.3445C>T (p.Pro1149Ser)
|
rs2101558262
|
|
NM_001111.5(ADAR):c.3452A>G (p.Asn1151Ser)
|
|
|
NM_001111.5(ADAR):c.3454G>A (p.Glu1152Lys)
|
|
|
NM_001111.5(ADAR):c.3464G>A (p.Arg1155Gln)
|
rs1304875258
|
|
NM_001111.5(ADAR):c.3466G>A (p.Val1156Ile)
|
|
|
NM_001111.5(ADAR):c.3467T>C (p.Val1156Ala)
|
|
|
NM_001111.5(ADAR):c.3471C>T (p.Ser1157=)
|
|
|
NM_001111.5(ADAR):c.3476del (p.Lys1159fs)
|
|
|
NM_001111.5(ADAR):c.3487C>T (p.Leu1163Phe)
|
|
|
NM_001111.5(ADAR):c.348G>C (p.Arg116Ser)
|
|
|
NM_001111.5(ADAR):c.3490C>T (p.Leu1164=)
|
|
|
NM_001111.5(ADAR):c.3491T>G (p.Leu1164Arg)
|
|
|
NM_001111.5(ADAR):c.3499A>C (p.Lys1167Gln)
|
rs1571045177
|
|
NM_001111.5(ADAR):c.3509C>T (p.Ser1170Phe)
|
rs1696650377
|
|
NM_001111.5(ADAR):c.3516_3519del (p.Tyr1173fs)
|
|
|
NM_001111.5(ADAR):c.3520C>G (p.Arg1174Gly)
|
rs1243173166
|
|
NM_001111.5(ADAR):c.3541T>C (p.Ser1181Pro)
|
rs374282086
|
|
NM_001111.5(ADAR):c.3543del (p.Tyr1182fs)
|
|
|
NM_001111.5(ADAR):c.3547G>C (p.Gly1183Arg)
|
|
|
NM_001111.5(ADAR):c.3548G>T (p.Gly1183Val)
|
|
|
NM_001111.5(ADAR):c.3566C>T (p.Ala1189Val)
|
|
|
NM_001111.5(ADAR):c.3568C>G (p.Arg1190Gly)
|
rs979532140
|
|
NM_001111.5(ADAR):c.3569G>A (p.Arg1190His)
|
rs1302098873
|
|
NM_001111.5(ADAR):c.3571G>C (p.Asp1191His)
|
|
|
NM_001111.5(ADAR):c.3574T>G (p.Tyr1192Asp)
|
|
|
NM_001111.5(ADAR):c.3577G>A (p.Glu1193Lys)
|
rs1064796761
|
|
NM_001111.5(ADAR):c.3584C>G (p.Ala1195Gly)
|
rs986264460
|
|
NM_001111.5(ADAR):c.3598A>C (p.Lys1200Gln)
|
rs2101556953
|
|
NM_001111.5(ADAR):c.3599A>G (p.Lys1200Arg)
|
|
|
NM_001111.5(ADAR):c.35A>C (p.Tyr12Ser)
|
rs1475258937
|
|
NM_001111.5(ADAR):c.3605G>C (p.Gly1202Ala)
|
|
|
NM_001111.5(ADAR):c.3605G>T (p.Gly1202Val)
|
|
|
NM_001111.5(ADAR):c.3632G>T (p.Trp1211Leu)
|
rs2101556867
|
|
NM_001111.5(ADAR):c.3633del (p.Asn1210_Trp1211insTer)
|
|
|
NM_001111.5(ADAR):c.3634A>G (p.Ile1212Val)
|
|
|
NM_001111.5(ADAR):c.3641A>G (p.Lys1214Arg)
|
|
|
NM_001111.5(ADAR):c.3647A>G (p.Gln1216Arg)
|
|
|
NM_001111.5(ADAR):c.3657G>T (p.Lys1219Asn)
|
rs2101556653
|
|
NM_001111.5(ADAR):c.365G>A (p.Gly122Asp)
|
|
|
NM_001111.5(ADAR):c.3665A>C (p.Tyr1222Ser)
|
|
|
NM_001111.5(ADAR):c.3673C>G (p.Pro1225Ala)
|
|
|
NM_001111.5(ADAR):c.377T>C (p.Leu126Pro)
|
|
|
NM_001111.5(ADAR):c.382T>A (p.Ser128Thr)
|
|
|
NM_001111.5(ADAR):c.38A>T (p.Tyr13Phe)
|
|
|
NM_001111.5(ADAR):c.394G>A (p.Glu132Lys)
|
rs1697933888
|
|
NM_001111.5(ADAR):c.400A>C (p.Ser134Arg)
|
|
|
NM_001111.5(ADAR):c.403A>G (p.Ile135Val)
|
rs1697932885
|
|
NM_001111.5(ADAR):c.406T>C (p.Tyr136His)
|
rs2101644128
|
|
NM_001111.5(ADAR):c.418G>C (p.Glu140Gln)
|
rs2101644028
|
|
NM_001111.5(ADAR):c.41C>G (p.Thr14Ser)
|
|
|
NM_001111.5(ADAR):c.422A>G (p.Gln141Arg)
|
|
|
NM_001111.5(ADAR):c.44A>C (p.His15Pro)
|
rs1697961105
|
|
NM_001111.5(ADAR):c.452G>A (p.Gly151Glu)
|
|
|
NM_001111.5(ADAR):c.470C>T (p.Thr157Ile)
|
|
|
NM_001111.5(ADAR):c.475C>G (p.His159Asp)
|
rs921496664
|
|
NM_001111.5(ADAR):c.478G>C (p.Asp160His)
|
|
|
NM_001111.5(ADAR):c.487G>T (p.Gly163Trp)
|
rs762094056
|
|
NM_001111.5(ADAR):c.494T>A (p.Leu165His)
|
rs1697924081
|
|
NM_001111.5(ADAR):c.502C>A (p.Pro168Thr)
|
rs1571111089
|
|
NM_001111.5(ADAR):c.503C>T (p.Pro168Leu)
|
|
|
NM_001111.5(ADAR):c.511G>A (p.Glu171Lys)
|
rs2101643546
|
|
NM_001111.5(ADAR):c.529T>C (p.Tyr177His)
|
rs2101643438
|
|
NM_001111.5(ADAR):c.530A>G (p.Tyr177Cys)
|
|
|
NM_001111.5(ADAR):c.532T>A (p.Ser178Thr)
|
rs1235906378
|
|
NM_001111.5(ADAR):c.533C>T (p.Ser178Phe)
|
rs1697921275
|
|
NM_001111.5(ADAR):c.559A>G (p.Lys187Glu)
|
rs1697919383
|
|
NM_001111.5(ADAR):c.578C>T (p.Pro193Leu)
|
rs1697917766
|
|
NM_001111.5(ADAR):c.593C>A (p.Ala198Glu)
|
|
|
NM_001111.5(ADAR):c.593C>T (p.Ala198Val)
|
|
|
NM_001111.5(ADAR):c.595G>A (p.Val199Ile)
|
|
|
NM_001111.5(ADAR):c.599C>G (p.Ser200Cys)
|
|
|
NM_001111.5(ADAR):c.605A>G (p.Gln202Arg)
|
|
|
NM_001111.5(ADAR):c.615C>A (p.Asn205Lys)
|
rs770367924
|
|
NM_001111.5(ADAR):c.621C>G (p.His207Gln)
|
|
|
NM_001111.5(ADAR):c.622A>G (p.Ser208Gly)
|
|
|
NM_001111.5(ADAR):c.629T>A (p.Val210Glu)
|
|
|
NM_001111.5(ADAR):c.640G>A (p.Asp214Asn)
|
|
|
NM_001111.5(ADAR):c.641A>G (p.Asp214Gly)
|
rs2101642759
|
|
NM_001111.5(ADAR):c.643G>C (p.Gly215Arg)
|
|
|
NM_001111.5(ADAR):c.643_789del (p.Gly215_Asp263del)
|
rs2101641836
|
|
NM_001111.5(ADAR):c.651C>G (p.Ser217Arg)
|
|
|
NM_001111.5(ADAR):c.658G>A (p.Ala220Thr)
|
|
|
NM_001111.5(ADAR):c.658_804del (p.Ala220_Gly268del)
|
|
|
NM_001111.5(ADAR):c.665A>T (p.Asn222Ile)
|
rs1557887942
|
|
NM_001111.5(ADAR):c.670G>A (p.Asp224Asn)
|
|
|
NM_001111.5(ADAR):c.672C>A (p.Asp224Glu)
|
|
|
NM_001111.5(ADAR):c.673C>T (p.Pro225Ser)
|
rs759905537
|
|
NM_001111.5(ADAR):c.674C>T (p.Pro225Leu)
|
|
|
NM_001111.5(ADAR):c.677G>A (p.Ser226Asn)
|
|
|
NM_001111.5(ADAR):c.686C>G (p.Pro229Arg)
|
|
|
NM_001111.5(ADAR):c.694A>G (p.Arg232Gly)
|
|
|
NM_001111.5(ADAR):c.701C>A (p.Ser234Tyr)
|
rs769223848
|
|
NM_001111.5(ADAR):c.718G>C (p.Asp240His)
|
rs1374526080
|
|
NM_001111.5(ADAR):c.721C>T (p.Leu241Phe)
|
|
|
NM_001111.5(ADAR):c.721CTT[1] (p.Leu242del)
|
|
|
NM_001111.5(ADAR):c.722T>G (p.Leu241Arg)
|
|
|
NM_001111.5(ADAR):c.734T>C (p.Phe245Ser)
|
|
|
NM_001111.5(ADAR):c.737T>G (p.Ile246Ser)
|
|
|
NM_001111.5(ADAR):c.739G>A (p.Ala247Thr)
|
rs886045344
|
|
NM_001111.5(ADAR):c.73C>T (p.Leu25Phe)
|
|
|
NM_001111.5(ADAR):c.749C>T (p.Ala250Val)
|
|
|
NM_001111.5(ADAR):c.751C>G (p.Gln251Glu)
|
rs777881995
|
|
NM_001111.5(ADAR):c.769A>C (p.Ser257Arg)
|
|
|
NM_001111.5(ADAR):c.771C>G (p.Ser257Arg)
|
|
|
NM_001111.5(ADAR):c.779T>A (p.Val260Glu)
|
|
|
NM_001111.5(ADAR):c.785C>T (p.Pro262Leu)
|
|
|
NM_001111.5(ADAR):c.790A>G (p.Ser264Gly)
|
rs1451687174
|
|
NM_001111.5(ADAR):c.792T>G (p.Ser264Arg)
|
|
|
NM_001111.5(ADAR):c.7C>G (p.Pro3Ala)
|
rs1313399962
|
|
NM_001111.5(ADAR):c.7C>T (p.Pro3Ser)
|
rs1313399962
|
|
NM_001111.5(ADAR):c.805T>G (p.Ser269Ala)
|
|
|
NM_001111.5(ADAR):c.811A>G (p.Asn271Asp)
|
rs1223076895
|
|
NM_001111.5(ADAR):c.823G>T (p.Gly275Cys)
|
rs867384981
|
|
NM_001111.5(ADAR):c.824G>A (p.Gly275Asp)
|
|
|
NM_001111.5(ADAR):c.841A>G (p.Ser281Gly)
|
rs1557887436
|
|
NM_001111.5(ADAR):c.851C>T (p.Thr284Ile)
|
|
|
NM_001111.5(ADAR):c.865G>C (p.Asp289His)
|
|
|
NM_001111.5(ADAR):c.866A>G (p.Asp289Gly)
|
rs1697896792
|
|
NM_001111.5(ADAR):c.867T>G (p.Asp289Glu)
|
|
|
NM_001111.5(ADAR):c.879T>G (p.Phe293Leu)
|
|
|
NM_001111.5(ADAR):c.89C>G (p.Pro30Arg)
|
rs2101645907
|
|
NM_001111.5(ADAR):c.906A>T (p.Lys302Asn)
|
|
|
NM_001111.5(ADAR):c.915C>G (p.Asp305Glu)
|
|
|
NM_001111.5(ADAR):c.925A>G (p.Asn309Asp)
|
|
|
NM_001111.5(ADAR):c.926A>G (p.Asn309Ser)
|
|
|
NM_001111.5(ADAR):c.931T>A (p.Ser311Thr)
|
rs1697893231
|
|
NM_001111.5(ADAR):c.943G>T (p.Ala315Ser)
|
rs765669048
|
|
NM_001111.5(ADAR):c.946C>G (p.Leu316Val)
|
|
|
NM_001111.5(ADAR):c.947T>C (p.Leu316Pro)
|
|
|
NM_001111.5(ADAR):c.968G>A (p.Gly323Asp)
|
|
|
NM_001111.5(ADAR):c.988A>G (p.Ile330Val)
|
rs2101640846
|
|
NM_001111.5(ADAR):c.98G>A (p.Gly33Glu)
|
rs1571113228
|
|
NM_001122681.2(SH3BP2):c.*1401C>T
|
rs886059363
|
|
NM_001122681.2(SH3BP2):c.*2353CT[1]
|
rs886059365
|
|
NM_001122681.2(SH3BP2):c.*2574G>A
|
rs886059367
|
|
NM_001122681.2(SH3BP2):c.*2665C>G
|
rs886059368
|
|
NM_001122681.2(SH3BP2):c.*3132TCT[1]
|
rs753767983
|
|
NM_001122681.2(SH3BP2):c.*3220T>C
|
rs886059373
|
|
NM_001122681.2(SH3BP2):c.*3911C>T
|
rs886059378
|
|
NM_001122681.2(SH3BP2):c.*415G>A
|
rs886059360
|
|
NM_001122681.2(SH3BP2):c.*4329_*4330del
|
rs571870071
|
|
NM_001122681.2(SH3BP2):c.*4817_*4818dup
|
rs397878760
|
|
NM_001122681.2(SH3BP2):c.*5322TCTTTT[2]
|
rs886059381
|
|
NM_001122681.2(SH3BP2):c.*5496A>T
|
rs886059382
|
|
NM_001122681.2(SH3BP2):c.*5613C>T
|
rs886059384
|
|
NM_001122681.2(SH3BP2):c.*5738dup
|
rs1553809216
|
|
NM_001122681.2(SH3BP2):c.*618G>A
|
rs886059361
|
|
NM_001122681.2(SH3BP2):c.*6419_*6420dup
|
rs568332811
|
|
NM_001122681.2(SH3BP2):c.*6420dup
|
rs568332811
|
|
NM_001122681.2(SH3BP2):c.*6580del
|
rs886059389
|
|
NM_001122681.2(SH3BP2):c.*6928T>C
|
rs886059391
|
|
NM_001122681.2(SH3BP2):c.*7167del
|
rs566926916
|
|
NM_001122681.2(SH3BP2):c.*7167dup
|
rs566926916
|
|
NM_001122681.2(SH3BP2):c.1005G>T (p.Lys335Asn)
|
|
|
NM_001122681.2(SH3BP2):c.1024C>T (p.Arg342Ter)
|
|
|
NM_001122681.2(SH3BP2):c.1033C>G (p.Pro345Ala)
|
rs1317170986
|
|
NM_001122681.2(SH3BP2):c.1039T>C (p.Ser347Pro)
|
rs1274772239
|
|
NM_001122681.2(SH3BP2):c.1045C>T (p.Pro349Ser)
|
|
|
NM_001122681.2(SH3BP2):c.1049C>G (p.Pro350Arg)
|
rs762177276
|
|
NM_001122681.2(SH3BP2):c.1061C>A (p.Ala354Asp)
|
|
|
NM_001122681.2(SH3BP2):c.1061C>T (p.Ala354Val)
|
rs1016515984
|
|
NM_001122681.2(SH3BP2):c.1084A>G (p.Ile362Val)
|
|
|
NM_001122681.2(SH3BP2):c.1102C>T (p.Pro368Ser)
|
|
|
NM_001122681.2(SH3BP2):c.1103C>T (p.Pro368Leu)
|
rs781072584
|
|
NM_001122681.2(SH3BP2):c.1103del (p.Pro368fs)
|
rs1560111269
|
|
NM_001122681.2(SH3BP2):c.1108_1109delinsAG (p.Glu370Arg)
|
|
|
NM_001122681.2(SH3BP2):c.1118T>C (p.Met373Thr)
|
|
|
NM_001122681.2(SH3BP2):c.1120C>T (p.Pro374Ser)
|
rs2108739211
|
|
NM_001122681.2(SH3BP2):c.112G>A (p.Gly38Ser)
|
rs773829474
|
|
NM_001122681.2(SH3BP2):c.112G>C (p.Gly38Arg)
|
|
|
NM_001122681.2(SH3BP2):c.1130T>C (p.Phe377Ser)
|
rs1724895905
|
|
NM_001122681.2(SH3BP2):c.1132G>T (p.Val378Leu)
|
rs1724896293
|
|
NM_001122681.2(SH3BP2):c.1140dup (p.Val381fs)
|
rs759199606
|
|
NM_001122681.2(SH3BP2):c.1145C>G (p.Ala382Gly)
|
|
|
NM_001122681.2(SH3BP2):c.1153CCT[1] (p.Pro386del)
|
rs1303791404
|
|
NM_001122681.2(SH3BP2):c.1154C>T (p.Pro385Leu)
|
|
|
NM_001122681.2(SH3BP2):c.1157C>T (p.Pro386Leu)
|
|
|
NM_001122681.2(SH3BP2):c.1169T>C (p.Leu390Pro)
|
|
|
NM_001122681.2(SH3BP2):c.1172C>T (p.Pro391Leu)
|
|
|
NM_001122681.2(SH3BP2):c.1175T>C (p.Val392Ala)
|
rs2108739303
|
|
NM_001122681.2(SH3BP2):c.1177C>T (p.Pro393Ser)
|
|
|
NM_001122681.2(SH3BP2):c.1178C>T (p.Pro393Leu)
|
rs1724900397
|
|
NM_001122681.2(SH3BP2):c.1184C>T (p.Ala395Val)
|
rs777927746
|
|
NM_001122681.2(SH3BP2):c.1186A>G (p.Met396Val)
|
|
|
NM_001122681.2(SH3BP2):c.1190C>G (p.Ala397Gly)
|
rs527342066
|
|
NM_001122681.2(SH3BP2):c.1205T>G (p.Leu402Arg)
|
rs1724903131
|
|
NM_001122681.2(SH3BP2):c.1208C>T (p.Pro403Leu)
|
|
|
NM_001122681.2(SH3BP2):c.1216G>C (p.Glu406Gln)
|
|
|
NM_001122681.2(SH3BP2):c.1223C>T (p.Pro408Leu)
|
|
|
NM_001122681.2(SH3BP2):c.1244G>T (p.Arg415Leu)
|
rs121909149
|
|
NM_001122681.2(SH3BP2):c.1252C>G (p.Pro418Ala)
|
|
|
NM_001122681.2(SH3BP2):c.1254dup (p.Asp419fs)
|
rs752422406
|
|
NM_001122681.2(SH3BP2):c.1258G>T (p.Gly420Trp)
|
|
|
NM_001122681.2(SH3BP2):c.1259G>A (p.Gly420Glu)
|
rs28938171
|
|
NM_001122681.2(SH3BP2):c.125A>C (p.Gln42Pro)
|
|
|
NM_001122681.2(SH3BP2):c.1261C>T (p.Gln421Ter)
|
|
|
NM_001122681.2(SH3BP2):c.1264_1265del (p.Ser422fs)
|
rs1724988286
|
|
NM_001122681.2(SH3BP2):c.1275C>A (p.Ser425Arg)
|
rs972728940
|
|
NM_001122681.2(SH3BP2):c.1291C>A (p.Pro431Thr)
|
rs1486769271
|
|
NM_001122681.2(SH3BP2):c.1299A>C (p.Gln433His)
|
|
|
NM_001122681.2(SH3BP2):c.1299A>G (p.Gln433=)
|
rs886059357
|
|
NM_001122681.2(SH3BP2):c.1300C>T (p.Pro434Ser)
|
|
|
NM_001122681.2(SH3BP2):c.1310C>T (p.Ala437Val)
|
|
|
NM_001122681.2(SH3BP2):c.1326C>A (p.Asp442Glu)
|
rs761864704
|
|
NM_001122681.2(SH3BP2):c.1330T>A (p.Ser444Thr)
|
rs1724992271
|
|
NM_001122681.2(SH3BP2):c.1342T>C (p.Tyr448His)
|
|
|
NM_001122681.2(SH3BP2):c.1343A>C (p.Tyr448Ser)
|
rs1291034009
|
|
NM_001122681.2(SH3BP2):c.1343A>T (p.Tyr448Phe)
|
|
|
NM_001122681.2(SH3BP2):c.136+5G>A
|
|
|
NM_001122681.2(SH3BP2):c.1380C>A (p.Asn460Lys)
|
rs1322292807
|
|
NM_001122681.2(SH3BP2):c.13G>A (p.Glu5Lys)
|
|
|
NM_001122681.2(SH3BP2):c.1406+2T>A
|
rs2108741609
|
|
NM_001122681.2(SH3BP2):c.1406+6C>T
|
|
|
NM_001122681.2(SH3BP2):c.1418C>G (p.Ala473Gly)
|
rs2108742009
|
|
NM_001122681.2(SH3BP2):c.1421C>T (p.Thr474Ile)
|
rs746860671
|
|
NM_001122681.2(SH3BP2):c.1425C>G (p.Ser475Arg)
|
|
|
NM_001122681.2(SH3BP2):c.1436A>G (p.Glu479Gly)
|
|
|
NM_001122681.2(SH3BP2):c.1437G>C (p.Glu479Asp)
|
rs2108742039
|
|
NM_001122681.2(SH3BP2):c.1438C>G (p.Pro480Ala)
|
|
|
NM_001122681.2(SH3BP2):c.1439C>G (p.Pro480Arg)
|
rs565191421
|
|
NM_001122681.2(SH3BP2):c.143T>C (p.Leu48Pro)
|
|
|
NM_001122681.2(SH3BP2):c.1445A>G (p.Asp482Gly)
|
|
|
NM_001122681.2(SH3BP2):c.1450C>G (p.Leu484Val)
|
rs2108742062
|
|
NM_001122681.2(SH3BP2):c.1458C>A (p.Cys486Ter)
|
|
|
NM_001122681.2(SH3BP2):c.1503G>C (p.Trp501Cys)
|
|
|
NM_001122681.2(SH3BP2):c.1514C>T (p.Ser505Phe)
|
rs144577122
|
|
NM_001122681.2(SH3BP2):c.1520A>G (p.Lys507Arg)
|
|
|
NM_001122681.2(SH3BP2):c.1521A>T (p.Lys507Asn)
|
rs2108742930
|
|
NM_001122681.2(SH3BP2):c.1522G>A (p.Val508Met)
|
|
|
NM_001122681.2(SH3BP2):c.1523T>G (p.Val508Gly)
|
rs2108742933
|
|
NM_001122681.2(SH3BP2):c.1524G>A (p.Val508=)
|
|
|
NM_001122681.2(SH3BP2):c.1554dup (p.Lys519Ter)
|
|
|
NM_001122681.2(SH3BP2):c.1585G>T (p.Val529Leu)
|
|
|
NM_001122681.2(SH3BP2):c.1589G>T (p.Ser530Ile)
|
|
|
NM_001122681.2(SH3BP2):c.1623C>G (p.His541Gln)
|
|
|
NM_001122681.2(SH3BP2):c.1641G>C (p.Gln547His)
|
rs1030615203
|
|
NM_001122681.2(SH3BP2):c.1649T>G (p.Leu550Arg)
|
|
|
NM_001122681.2(SH3BP2):c.1654C>G (p.Arg552Gly)
|
rs151048521
|
|
NM_001122681.2(SH3BP2):c.1654C>T (p.Arg552Trp)
|
rs151048521
|
|
NM_001122681.2(SH3BP2):c.1661C>G (p.Pro554Arg)
|
rs1725134312
|
|
NM_001122681.2(SH3BP2):c.1679C>T (p.Pro560Leu)
|
|
|
NM_001122681.2(SH3BP2):c.167G>T (p.Arg56Leu)
|
|
|
NM_001122681.2(SH3BP2):c.1682G>C (p.Arg561Thr)
|
|
|
NM_001122681.2(SH3BP2):c.172G>A (p.Val58Ile)
|
|
|
NM_001122681.2(SH3BP2):c.17del (p.Met6fs)
|
rs746804160
|
|
NM_001122681.2(SH3BP2):c.194C>T (p.Thr65Ile)
|
|
|
NM_001122681.2(SH3BP2):c.199G>A (p.Ala67Thr)
|
rs2108728412
|
|
NM_001122681.2(SH3BP2):c.1A>G (p.Met1Val)
|
|
|
NM_001122681.2(SH3BP2):c.205C>T (p.Pro69Ser)
|
|
|
NM_001122681.2(SH3BP2):c.228T>G (p.Ser76Arg)
|
|
|
NM_001122681.2(SH3BP2):c.230G>C (p.Gly77Ala)
|
|
|
NM_001122681.2(SH3BP2):c.240-1G>A
|
rs1560106586
|
|
NM_001122681.2(SH3BP2):c.244A>T (p.Met82Leu)
|
|
|
NM_001122681.2(SH3BP2):c.248G>A (p.Arg83Gln)
|
|
|
NM_001122681.2(SH3BP2):c.24G>C (p.Trp8Cys)
|
|
|
NM_001122681.2(SH3BP2):c.279T>C (p.Val93=)
|
|
|
NM_001122681.2(SH3BP2):c.282C>G (p.Phe94Leu)
|
rs1278859289
|
|
NM_001122681.2(SH3BP2):c.296T>A (p.Ile99Asn)
|
|
|
NM_001122681.2(SH3BP2):c.298C>T (p.His100Tyr)
|
|
|
NM_001122681.2(SH3BP2):c.305G>C (p.Ser102Thr)
|
rs1484027719
|
|
NM_001122681.2(SH3BP2):c.320C>T (p.Thr107Met)
|
|
|
NM_001122681.2(SH3BP2):c.332C>T (p.Ser111Leu)
|
|
|
NM_001122681.2(SH3BP2):c.335C>T (p.Ala112Val)
|
|
|
NM_001122681.2(SH3BP2):c.341C>G (p.Ser114Cys)
|
rs1724499985
|
|
NM_001122681.2(SH3BP2):c.341C>T (p.Ser114Phe)
|
|
|
NM_001122681.2(SH3BP2):c.343G>A (p.Glu115Lys)
|
rs749467680
|
|
NM_001122681.2(SH3BP2):c.343_345delinsTCC (p.Glu115Ser)
|
|
|
NM_001122681.2(SH3BP2):c.357+14_357+15insTAGGACGAGTGCAAGGTGACTGGGGGTCC
|
rs1326878343
|
|
NM_001122681.2(SH3BP2):c.357+6_357+7del
|
|
|
NM_001122681.2(SH3BP2):c.359G>A (p.Ser120Asn)
|
|
|
NM_001122681.2(SH3BP2):c.361T>A (p.Trp121Arg)
|
|
|
NM_001122681.2(SH3BP2):c.374T>A (p.Leu125Gln)
|
|
|
NM_001122681.2(SH3BP2):c.397C>A (p.His133Asn)
|
rs1577360228
|
|
NM_001122681.2(SH3BP2):c.398A>C (p.His133Pro)
|
rs886059355
|
|
NM_001122681.2(SH3BP2):c.411C>G (p.Asp137Glu)
|
|
|
NM_001122681.2(SH3BP2):c.416C>T (p.Pro139Leu)
|
|
|
NM_001122681.2(SH3BP2):c.432C>G (p.Asp144Glu)
|
|
|
NM_001122681.2(SH3BP2):c.457T>A (p.Tyr153Asn)
|
rs1724717798
|
|
NM_001122681.2(SH3BP2):c.467T>C (p.Val156Ala)
|
|
|
NM_001122681.2(SH3BP2):c.476del (p.Pro159fs)
|
rs2108735375
|
|
NM_001122681.2(SH3BP2):c.478G>C (p.Val160Leu)
|
rs773270775
|
|
NM_001122681.2(SH3BP2):c.496C>T (p.Pro166Ser)
|
|
|
NM_001122681.2(SH3BP2):c.503C>G (p.Pro168Arg)
|
|
|
NM_001122681.2(SH3BP2):c.509del (p.Asp170fs)
|
rs2108735431
|
|
NM_001122681.2(SH3BP2):c.566C>G (p.Pro189Arg)
|
rs147001821
|
|
NM_001122681.2(SH3BP2):c.566C>T (p.Pro189Leu)
|
rs147001821
|
|
NM_001122681.2(SH3BP2):c.568G>A (p.Glu190Lys)
|
rs761070963
|
|
NM_001122681.2(SH3BP2):c.569A>C (p.Glu190Ala)
|
|
|
NM_001122681.2(SH3BP2):c.586G>T (p.Asp196Tyr)
|
|
|
NM_001122681.2(SH3BP2):c.587A>G (p.Asp196Gly)
|
rs2108738351
|
|
NM_001122681.2(SH3BP2):c.619C>T (p.Pro207Ser)
|
|
|
NM_001122681.2(SH3BP2):c.620C>T (p.Pro207Leu)
|
rs2108738398
|
|
NM_001122681.2(SH3BP2):c.643C>T (p.Pro215Ser)
|
|
|
NM_001122681.2(SH3BP2):c.655G>C (p.Asp219His)
|
|
|
NM_001122681.2(SH3BP2):c.661_710delinsAGAAGGGTG (p.Pro221fs)
|
|
|
NM_001122681.2(SH3BP2):c.665G>A (p.Arg222Gln)
|
|
|
NM_001122681.2(SH3BP2):c.67A>T (p.Met23Leu)
|
|
|
NM_001122681.2(SH3BP2):c.692C>T (p.Pro231Leu)
|
rs1724859262
|
|
NM_001122681.2(SH3BP2):c.694G>A (p.Gly232Ser)
|
|
|
NM_001122681.2(SH3BP2):c.701_712del (p.Leu234_Pro237del)
|
|
|
NM_001122681.2(SH3BP2):c.707C>A (p.Pro236Gln)
|
|
|
NM_001122681.2(SH3BP2):c.707C>T (p.Pro236Leu)
|
rs2108738526
|
|
NM_001122681.2(SH3BP2):c.716C>G (p.Pro239Arg)
|
|
|
NM_001122681.2(SH3BP2):c.71C>G (p.Pro24Arg)
|
rs1724253944
|
|
NM_001122681.2(SH3BP2):c.749C>T (p.Ala250Val)
|
|
|
NM_001122681.2(SH3BP2):c.749_750delinsTG (p.Ala250Val)
|
|
|
NM_001122681.2(SH3BP2):c.750T>A (p.Ala250=)
|
rs231399
|
|
NM_001122681.2(SH3BP2):c.754G>A (p.Glu252Lys)
|
rs1308552287
|
|
NM_001122681.2(SH3BP2):c.761C>G (p.Ser254Cys)
|
|
|
NM_001122681.2(SH3BP2):c.787C>T (p.Arg263Trp)
|
rs539765774
|
|
NM_001122681.2(SH3BP2):c.806G>C (p.Arg269Thr)
|
|
|
NM_001122681.2(SH3BP2):c.808G>A (p.Val270Ile)
|
|
|
NM_001122681.2(SH3BP2):c.814G>A (p.Ala272Thr)
|
|
|
NM_001122681.2(SH3BP2):c.81G>T (p.Val27=)
|
rs745515987
|
|
NM_001122681.2(SH3BP2):c.821C>A (p.Pro274His)
|
|
|
NM_001122681.2(SH3BP2):c.821C>G (p.Pro274Arg)
|
rs760547264
|
|
NM_001122681.2(SH3BP2):c.824G>A (p.Arg275Gln)
|
|
|
NM_001122681.2(SH3BP2):c.835G>A (p.Asp279Asn)
|
|
|
NM_001122681.2(SH3BP2):c.836A>G (p.Asp279Gly)
|
|
|
NM_001122681.2(SH3BP2):c.837T>A (p.Asp279Glu)
|
|
|
NM_001122681.2(SH3BP2):c.845T>A (p.Leu282Gln)
|
rs766045804
|
|
NM_001122681.2(SH3BP2):c.868G>A (p.Gly290Ser)
|
rs757550176
|
|
NM_001122681.2(SH3BP2):c.874C>G (p.Arg292Gly)
|
|
|
NM_001122681.2(SH3BP2):c.879A>C (p.Lys293Asn)
|
|
|
NM_001122681.2(SH3BP2):c.884C>T (p.Pro295Leu)
|
|
|
NM_001122681.2(SH3BP2):c.8C>T (p.Ala3Val)
|
|
|
NM_001122681.2(SH3BP2):c.908C>T (p.Pro303Leu)
|
|
|
NM_001122681.2(SH3BP2):c.946T>A (p.Ser316Thr)
|
|
|
NM_001122681.2(SH3BP2):c.959C>G (p.Ala320Gly)
|
rs1724884429
|
|
NM_001122681.2(SH3BP2):c.968_973del (p.Met323_Ala324del)
|
|
|
NM_001122681.2(SH3BP2):c.977C>T (p.Ala326Val)
|
rs2108739016
|
|
NM_001122681.2(SH3BP2):c.980C>T (p.Thr327Ile)
|
|
|
NM_001122681.2(SH3BP2):c.983C>G (p.Ser328Cys)
|
|
|
NM_001122681.2(SH3BP2):c.986G>A (p.Arg329Lys)
|
|
|
NM_001122681.2(SH3BP2):c.993_994del (p.Cys331_Asp332delinsTer)
|
rs1171967366
|
|
NM_001127208.3(TET2):c.3782G>A (p.Arg1261His)
|
|
|
NM_001127511.3(APC):c.-128G>C
|
rs543098847
|
|
NM_001127511.3(APC):c.-142G>A
|
rs951500465
|
|
NM_001127671.2(LIFR):c.1265C>T (p.Thr422Ile)
|
rs2112471039
|
|
NM_001127671.2(LIFR):c.148C>T (p.Pro50Ser)
|
rs1475409463
|
|
NM_001127671.2(LIFR):c.1547T>C (p.Phe516Ser)
|
rs766255111
|
|
NM_001127671.2(LIFR):c.1960A>G (p.Thr654Ala)
|
rs2112417469
|
|
NM_001127671.2(LIFR):c.47A>G (p.Asp16Gly)
|
rs2112571297
|
|
NM_001128225.3(SLC39A13):c.398C>T (p.Thr133Met)
|
rs140574574
|
|
NM_001128225.3(SLC39A13):c.786+7G>C
|
rs375548129
|
|
NM_001136219.3(FCGR2A):c.497C>T (p.Ser166Phe)
|
rs1675655979
|
|
NM_001136219.3(FCGR2A):c.780+1G>A
|
rs409763
|
|
NM_001142279.2(RNASEH2B):c.-293A>G
|
rs1879223372
|
|
NM_001142279.2(RNASEH2B):c.-294C>T
|
rs1879223150
|
|
NM_001142279.2(RNASEH2B):c.-313C>G
|
rs886050287
|
|
NM_001142279.2(RNASEH2B):c.767G>A (p.Gly256Asp)
|
rs1428846232
|
|
NM_001146696.2(KDM4C):c.11A>G (p.Tyr4Cys)
|
|
|
NM_001171.5(ABCC6):c.144_795-3del
|
|
|
NM_001171.5(ABCC6):c.220_222del
|
rs72664225
|
|
NM_001171.5(ABCC6):c.2996-1724_4209-478del
|
|
|
NM_001171.5(ABCC6):c.2996-?_4208+?del
|
|
|
NM_001171.5(ABCC6):c.3307-?_3735+?del
|
|
|
NM_001171.5(ABCC6):c.3307-?_3882+?del
|
|
|
NM_001171.6(ABCC6):c.1133A>C (p.Gln378Pro)
|
rs1555518390
|
|
NM_001171.6(ABCC6):c.1176G>C (p.Lys392Asn)
|
rs72653763
|
|
NM_001171.6(ABCC6):c.118C>T (p.Pro40Ser)
|
rs778544828
|
|
NM_001171.6(ABCC6):c.11C>A (p.Pro4His)
|
rs1555523872
|
|
NM_001171.6(ABCC6):c.1214C>T (p.Ala405Val)
|
rs115663615
|
|
NM_001171.6(ABCC6):c.1232_1233delinsGC (p.Asn411Ser)
|
rs2152278438
|
|
NM_001171.6(ABCC6):c.1233T>G (p.Asn411Lys)
|
rs9930886
|
|
NM_001171.6(ABCC6):c.1244T>C (p.Val415Ala)
|
rs72653765
|
|
NM_001171.6(ABCC6):c.1291T>C (p.Trp431Arg)
|
rs2048112873
|
|
NM_001171.6(ABCC6):c.1363G>C (p.Ala455Pro)
|
rs67996819
|
|
NM_001171.6(ABCC6):c.1388T>A (p.Leu463His)
|
rs72653767
|
|
NM_001171.6(ABCC6):c.1396A>T (p.Asn466Tyr)
|
rs1555515781
|
|
NM_001171.6(ABCC6):c.1432-22C>A
|
rs72664297
|
|
NM_001171.6(ABCC6):c.148A>G (p.Ile50Val)
|
|
|
NM_001171.6(ABCC6):c.1498A>C (p.Thr500Pro)
|
rs1555514945
|
|
NM_001171.6(ABCC6):c.1501A>T (p.Ile501Phe)
|
rs772952563
|
|
NM_001171.6(ABCC6):c.1505A>T (p.Lys502Met)
|
rs72653771
|
|
NM_001171.6(ABCC6):c.1555G>A (p.Gly519Ser)
|
rs2047802820
|
|
NM_001171.6(ABCC6):c.1563G>C (p.Glu521Asp)
|
rs1555514899
|
|
NM_001171.6(ABCC6):c.1565T>C (p.Leu522Pro)
|
rs1555514895
|
|
NM_001171.6(ABCC6):c.1570G>A (p.Ala524Thr)
|
rs143588929
|
|
NM_001171.6(ABCC6):c.1570G>T (p.Ala524Ser)
|
rs143588929
|
|
NM_001171.6(ABCC6):c.1576C>T (p.Arg526Trp)
|
|
|
NM_001171.6(ABCC6):c.1589T>C (p.Leu530Pro)
|
rs774648925
|
|
NM_001171.6(ABCC6):c.1685T>C (p.Met562Thr)
|
rs72653775
|
|
NM_001171.6(ABCC6):c.1780-2A>G
|
rs1555514089
|
|
NM_001171.6(ABCC6):c.1799G>T (p.Arg600Leu)
|
rs761433545
|
|
NM_001171.6(ABCC6):c.179_187del (p.Arg60_Tyr62del)
|
rs74315110
|
|
NM_001171.6(ABCC6):c.182G>A (p.Gly61Asp)
|
rs72657696
|
|
NM_001171.6(ABCC6):c.1901C>T (p.Ala634Val)
|
rs1555513604
|
|
NM_001171.6(ABCC6):c.1964A>G (p.Gln655Arg)
|
rs72653779
|
|
NM_001171.6(ABCC6):c.2104G>C (p.Val702Leu)
|
rs893859633
|
|
NM_001171.6(ABCC6):c.2126A>G (p.Glu709Gly)
|
rs1555513103
|
|
NM_001171.6(ABCC6):c.2131G>A (p.Val711Met)
|
rs200800189
|
|
NM_001171.6(ABCC6):c.2131G>C (p.Val711Leu)
|
rs200800189
|
|
NM_001171.6(ABCC6):c.2134T>C (p.Cys712Arg)
|
rs140013237
|
|
NM_001171.6(ABCC6):c.2230A>C (p.Thr744Pro)
|
rs1555513073
|
|
NM_001171.6(ABCC6):c.2248-12_2248-11del
|
rs111113623
|
|
NM_001171.6(ABCC6):c.232G>A (p.Ala78Thr)
|
rs2856597
|
|
NM_001171.6(ABCC6):c.2379C>G (p.Asn793Lys)
|
rs1555512420
|
|
NM_001171.6(ABCC6):c.2419C>G (p.Arg807Gly)
|
rs72653793
|
|
NM_001171.6(ABCC6):c.2488G>C (p.Ala830Pro)
|
rs1555512158
|
|
NM_001171.6(ABCC6):c.2552T>C (p.Leu851Pro)
|
rs72653799
|
|
NM_001171.6(ABCC6):c.2631C>A (p.Thr877=)
|
rs72664285
|
|
NM_001171.6(ABCC6):c.2686G>A (p.Glu896Lys)
|
rs775243858
|
|
NM_001171.6(ABCC6):c.26C>A (p.Ala9Glu)
|
rs1555523855
|
|
NM_001171.6(ABCC6):c.2784C>T (p.Gly928=)
|
rs749125777
|
|
NM_001171.6(ABCC6):c.2831C>T (p.Thr944Ile)
|
rs72653801
|
|
NM_001171.6(ABCC6):c.2843T>C (p.Leu948Pro)
|
rs1555510407
|
|
NM_001171.6(ABCC6):c.2855T>G (p.Phe952Cys)
|
rs72657690
|
|
NM_001171.6(ABCC6):c.2855TCCTCT[1] (p.952FL[1])
|
rs767359198
|
|
NM_001171.6(ABCC6):c.2911T>C (p.Trp971Arg)
|
rs1555510357
|
|
NM_001171.6(ABCC6):c.2943G>T (p.Gln981His)
|
rs368465318
|
|
NM_001171.6(ABCC6):c.2974G>A (p.Gly992Arg)
|
rs72657692
|
|
NM_001171.6(ABCC6):c.2974G>C (p.Gly992Arg)
|
rs72657692
|
|
NM_001171.6(ABCC6):c.3032T>C (p.Leu1011Pro)
|
rs1555509515
|
|
NM_001171.6(ABCC6):c.3119C>T (p.Pro1040Leu)
|
rs1555509485
|
|
NM_001171.6(ABCC6):c.3124G>A (p.Gly1042Ser)
|
rs1555509477
|
|
NM_001171.6(ABCC6):c.3143_3145del (p.Phe1048del)
|
rs769437554
|
|
NM_001171.6(ABCC6):c.3188T>C (p.Leu1063Pro)
|
rs72657695
|
|
NM_001171.6(ABCC6):c.3208G>C (p.Ala1070Pro)
|
rs369518454
|
|
NM_001171.6(ABCC6):c.3306+5G>C
|
rs369806278
|
|
NM_001171.6(ABCC6):c.3307-1006_3883-1050del
|
|
|
NM_001171.6(ABCC6):c.3307-38_3307-3delinsAGA
|
rs1555508993
|
|
NM_001171.6(ABCC6):c.3326C>T (p.Ser1109Leu)
|
rs758648156
|
|
NM_001171.6(ABCC6):c.3475A>G (p.Arg1159Gly)
|
rs772050759
|
|
NM_001171.6(ABCC6):c.3608G>A (p.Gly1203Asp)
|
rs63750607
|
|
NM_001171.6(ABCC6):c.3676C>A (p.Leu1226Ile)
|
rs63750125
|
|
NM_001171.6(ABCC6):c.3686G>A (p.Ser1229Asn)
|
rs940876455
|
|
NM_001171.6(ABCC6):c.37-21_37-12del
|
rs1555523540
|
|
NM_001171.6(ABCC6):c.3715T>C (p.Tyr1239His)
|
rs63749992
|
|
NM_001171.6(ABCC6):c.3735G>A (p.Glu1245=)
|
rs281865557
|
|
NM_001171.6(ABCC6):c.373G>A (p.Glu125Lys)
|
rs879956688
|
|
NM_001171.6(ABCC6):c.3755C>T (p.Thr1252Ile)
|
rs143212758
|
|
NM_001171.6(ABCC6):c.3818G>A (p.Arg1273Lys)
|
rs63750209
|
|
NM_001171.6(ABCC6):c.3823_3870del (p.Arg1275_His1290del)
|
rs74315128
|
|
NM_001171.6(ABCC6):c.3877G>A (p.Glu1293Lys)
|
rs63750625
|
|
NM_001171.6(ABCC6):c.3880_3882del (p.Lys1294del)
|
rs72664235
|
|
NM_001171.6(ABCC6):c.3883-10C>G
|
rs965791272
|
|
NM_001171.6(ABCC6):c.3883-5G>A
|
rs72664213
|
|
NM_001171.6(ABCC6):c.3932G>A (p.Gly1311Glu)
|
rs63750992
|
|
NM_001171.6(ABCC6):c.3976G>T (p.Asp1326Tyr)
|
rs766105758
|
|
NM_001171.6(ABCC6):c.3999G>A (p.Val1333=)
|
rs63750235
|
|
NM_001171.6(ABCC6):c.4016G>T (p.Arg1339Leu)
|
rs63750622
|
|
NM_001171.6(ABCC6):c.4048A>C (p.Ile1350Leu)
|
rs72664288
|
|
NM_001171.6(ABCC6):c.4182G>A (p.Lys1394=)
|
rs63750798
|
|
NM_001171.6(ABCC6):c.4191C>G (p.Asp1397Glu)
|
rs1021172050
|
|
NM_001171.6(ABCC6):c.4271T>C (p.Ile1424Thr)
|
rs63750295
|
|
NM_001171.6(ABCC6):c.4305C>T (p.Gly1435=)
|
rs72664289
|
|
NM_001171.6(ABCC6):c.4324G>A (p.Ala1442Thr)
|
rs1462269230
|
|
NM_001171.6(ABCC6):c.4377C>T (p.Arg1459=)
|
rs63750763
|
|
NM_001171.6(ABCC6):c.4403+11C>G
|
rs72664215
|
|
NM_001171.6(ABCC6):c.4448C>A (p.Pro1483Gln)
|
rs63750135
|
|
NM_001171.6(ABCC6):c.4448C>T (p.Pro1483Leu)
|
rs63750135
|
|
NM_001171.6(ABCC6):c.549G>A (p.Leu183=)
|
rs72664281
|
|
NM_001171.6(ABCC6):c.619G>A (p.Gly207Arg)
|
rs72657697
|
|
NM_001171.6(ABCC6):c.61C>T (p.Pro21Ser)
|
rs1235912910
|
|
NM_001171.6(ABCC6):c.754C>T (p.Leu252Phe)
|
rs72653757
|
|
NM_001171.6(ABCC6):c.766T>C (p.Trp256Arg)
|
rs1555520136
|
|
NM_001171.6(ABCC6):c.795-131_795-3del
|
rs1555518941
|
|
NM_001171.6(ABCC6):c.865_889del (p.Leu289fs)
|
rs74315139
|
|
NM_001189.4(NKX3-2):c.544G>A (p.Gly182Ser)
|
rs772588647
|
|
NM_001195626.3(MLLT10):c.1226G>C (p.Gly409Ala)
|
rs150803413
|
|
NM_001199138.2(NLRC4):c.-10A>T
|
rs2148946288
|
|
NM_001199138.2(NLRC4):c.1+4_1+7del
|
rs749477750
|
|
NM_001199138.2(NLRC4):c.1015C>A (p.Leu339Ile)
|
rs1553347334
|
|
NM_001199138.2(NLRC4):c.1025T>C (p.Val342Ala)
|
rs1687057246
|
|
NM_001199138.2(NLRC4):c.1027A>G (p.Ile343Val)
|
|
|
NM_001199138.2(NLRC4):c.1031C>T (p.Thr344Ile)
|
|
|
NM_001199138.2(NLRC4):c.103C>T (p.Arg35Cys)
|
rs554864659
|
|
NM_001199138.2(NLRC4):c.1047G>A (p.Met349Ile)
|
|
|
NM_001199138.2(NLRC4):c.1067C>T (p.Ser356Phe)
|
|
|
NM_001199138.2(NLRC4):c.1075_1076del (p.Gln359fs)
|
rs757026903
|
|
NM_001199138.2(NLRC4):c.1094C>A (p.Thr365Asn)
|
|
|
NM_001199138.2(NLRC4):c.1099T>C (p.Tyr367His)
|
rs1687055386
|
|
NM_001199138.2(NLRC4):c.1128C>G (p.His376Gln)
|
|
|
NM_001199138.2(NLRC4):c.112G>A (p.Val38Ile)
|
rs1687104483
|
|
NM_001199138.2(NLRC4):c.1133A>G (p.His378Arg)
|
|
|
NM_001199138.2(NLRC4):c.1147G>C (p.Ala383Pro)
|
rs1687053851
|
|
NM_001199138.2(NLRC4):c.114A>G (p.Val38=)
|
rs2148943842
|
|
NM_001199138.2(NLRC4):c.1164G>C (p.Arg388=)
|
rs2148942481
|
|
NM_001199138.2(NLRC4):c.1171G>A (p.Asp391Asn)
|
|
|
NM_001199138.2(NLRC4):c.1175A>G (p.His392Arg)
|
rs2148942468
|
|
NM_001199138.2(NLRC4):c.1183G>T (p.Asp395Tyr)
|
rs2148942460
|
|
NM_001199138.2(NLRC4):c.1195G>A (p.Glu399Lys)
|
|
|
NM_001199138.2(NLRC4):c.1203_1204del (p.Phe402fs)
|
|
|
NM_001199138.2(NLRC4):c.1214A>G (p.Lys405Arg)
|
rs1687051722
|
|
NM_001199138.2(NLRC4):c.1229T>C (p.Leu410Pro)
|
rs763562442
|
|
NM_001199138.2(NLRC4):c.1232A>C (p.Gln411Pro)
|
|
|
NM_001199138.2(NLRC4):c.1244G>C (p.Ser415Thr)
|
|
|
NM_001199138.2(NLRC4):c.124T>C (p.Cys42Arg)
|
rs1348244052
|
|
NM_001199138.2(NLRC4):c.1252G>A (p.Glu418Lys)
|
|
|
NM_001199138.2(NLRC4):c.1256A>C (p.Asp419Ala)
|
|
|
NM_001199138.2(NLRC4):c.1257T>A (p.Asp419Glu)
|
|
|
NM_001199138.2(NLRC4):c.1270A>C (p.Thr424Pro)
|
|
|
NM_001199138.2(NLRC4):c.1276C>A (p.Leu426Ile)
|
rs1558457501
|
|
NM_001199138.2(NLRC4):c.128G>A (p.Cys43Tyr)
|
|
|
NM_001199138.2(NLRC4):c.1302G>T (p.Arg434Ser)
|
rs2148942356
|
|
NM_001199138.2(NLRC4):c.1309C>A (p.Pro437Thr)
|
|
|
NM_001199138.2(NLRC4):c.1321T>C (p.Phe441Leu)
|
|
|
NM_001199138.2(NLRC4):c.1331A>G (p.Lys444Arg)
|
|
|
NM_001199138.2(NLRC4):c.1360A>T (p.Arg454Ter)
|
|
|
NM_001199138.2(NLRC4):c.1364T>G (p.Leu455Arg)
|
|
|
NM_001199138.2(NLRC4):c.1367G>A (p.Ser456Asn)
|
|
|
NM_001199138.2(NLRC4):c.1384C>T (p.His462Tyr)
|
|
|
NM_001199138.2(NLRC4):c.1395G>C (p.Glu465Asp)
|
|
|
NM_001199138.2(NLRC4):c.139G>A (p.Glu47Lys)
|
rs2148943822
|
|
NM_001199138.2(NLRC4):c.1409_1410dup (p.Asn471fs)
|
rs1416370111
|
|
NM_001199138.2(NLRC4):c.1432G>C (p.Val478Leu)
|
|
|
NM_001199138.2(NLRC4):c.1441_1449del (p.Ser481_Ile483del)
|
rs1687045453
|
|
NM_001199138.2(NLRC4):c.1444G>C (p.Asp482His)
|
|
|
NM_001199138.2(NLRC4):c.1456A>G (p.Thr486Ala)
|
rs2148942244
|
|
NM_001199138.2(NLRC4):c.1460A>G (p.Tyr487Cys)
|
|
|
NM_001199138.2(NLRC4):c.1466G>T (p.Ser489Ile)
|
|
|
NM_001199138.2(NLRC4):c.1474C>T (p.Arg492Trp)
|
rs1317272776
|
|
NM_001199138.2(NLRC4):c.1476G>T (p.Arg492=)
|
rs952121500
|
|
NM_001199138.2(NLRC4):c.1488del (p.Ser497fs)
|
rs1687043849
|
|
NM_001199138.2(NLRC4):c.1531G>A (p.Ala511Thr)
|
rs762082592
|
|
NM_001199138.2(NLRC4):c.1535T>C (p.Val512Ala)
|
rs1687041724
|
|
NM_001199138.2(NLRC4):c.1541A>C (p.Gln514Pro)
|
|
|
NM_001199138.2(NLRC4):c.1543C>T (p.His515Tyr)
|
|
|
NM_001199138.2(NLRC4):c.1551C>A (p.Cys517Ter)
|
rs1687040860
|
|
NM_001199138.2(NLRC4):c.1554T>C (p.Leu518=)
|
|
|
NM_001199138.2(NLRC4):c.1558G>A (p.Gly520Arg)
|
|
|
NM_001199138.2(NLRC4):c.1561C>T (p.Leu521Phe)
|
|
|
NM_001199138.2(NLRC4):c.1569C>A (p.Ile523=)
|
rs758432190
|
|
NM_001199138.2(NLRC4):c.1573A>G (p.Lys525Glu)
|
|
|
NM_001199138.2(NLRC4):c.1575G>T (p.Lys525Asn)
|
|
|
NM_001199138.2(NLRC4):c.1585_1586del (p.Trp529fs)
|
rs2148942101
|
|
NM_001199138.2(NLRC4):c.1610T>C (p.Val537Ala)
|
|
|
NM_001199138.2(NLRC4):c.1616del (p.Asn539fs)
|
rs760634156
|
|
NM_001199138.2(NLRC4):c.1621A>G (p.Thr541Ala)
|
rs1687038730
|
|
NM_001199138.2(NLRC4):c.1624G>A (p.Glu542Lys)
|
rs760757972
|
|
NM_001199138.2(NLRC4):c.1625A>G (p.Glu542Gly)
|
|
|
NM_001199138.2(NLRC4):c.1625A>T (p.Glu542Val)
|
rs1319552496
|
|
NM_001199138.2(NLRC4):c.1637T>G (p.Leu546Arg)
|
|
|
NM_001199138.2(NLRC4):c.1651A>G (p.Ile551Val)
|
rs781002536
|
|
NM_001199138.2(NLRC4):c.1661T>C (p.Phe554Ser)
|
rs1687037053
|
|
NM_001199138.2(NLRC4):c.1664T>C (p.Val555Ala)
|
|
|
NM_001199138.2(NLRC4):c.1680T>G (p.His560Gln)
|
|
|
NM_001199138.2(NLRC4):c.1683A>C (p.Leu561Phe)
|
rs148632046
|
|
NM_001199138.2(NLRC4):c.1685A>G (p.Tyr562Cys)
|
|
|
NM_001199138.2(NLRC4):c.1699T>C (p.Ser567Pro)
|
|
|
NM_001199138.2(NLRC4):c.1706C>T (p.Ser569Leu)
|
|
|
NM_001199138.2(NLRC4):c.1711C>G (p.Leu571Val)
|
|
|
NM_001199138.2(NLRC4):c.1724T>C (p.Phe575Ser)
|
rs2148941971
|
|
NM_001199138.2(NLRC4):c.1734C>A (p.Phe578Leu)
|
rs1558456920
|
|
NM_001199138.2(NLRC4):c.1738C>G (p.Gln580Glu)
|
rs1687034472
|
|
NM_001199138.2(NLRC4):c.1739A>C (p.Gln580Pro)
|
|
|
NM_001199138.2(NLRC4):c.1751del (p.Leu584fs)
|
rs1288231359
|
|
NM_001199138.2(NLRC4):c.1754A>C (p.Tyr585Ser)
|
rs763410160
|
|
NM_001199138.2(NLRC4):c.1754A>T (p.Tyr585Phe)
|
|
|
NM_001199138.2(NLRC4):c.1757T>C (p.Ile586Thr)
|
|
|
NM_001199138.2(NLRC4):c.1758_1759insGGTCTCCCTCTCCCTCTCCCCGTCTCCCTCTCCCTCTCCCCGTCTCCCTCTCCCTCTCCCCGCCTCCCTCTCCCTCTCCCCGTCTCCCTCTCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAGCTTATATATC (p.Asn587fs)
|
|
|
NM_001199138.2(NLRC4):c.1777G>A (p.Asp593Asn)
|
|
|
NM_001199138.2(NLRC4):c.1778A>G (p.Asp593Gly)
|
rs2148941919
|
|
NM_001199138.2(NLRC4):c.1779T>G (p.Asp593Glu)
|
|
|
NM_001199138.2(NLRC4):c.1798G>T (p.Glu600Ter)
|
|
|
NM_001199138.2(NLRC4):c.1812T>G (p.Asn604Lys)
|
|
|
NM_001199138.2(NLRC4):c.1824_1825delinsTG (p.Leu609Val)
|
rs2148941868
|
|
NM_001199138.2(NLRC4):c.182del (p.Lys61fs)
|
|
|
NM_001199138.2(NLRC4):c.1835T>C (p.Ile612Thr)
|
|
|
NM_001199138.2(NLRC4):c.1852G>A (p.Gly618Arg)
|
|
|
NM_001199138.2(NLRC4):c.185G>A (p.Gly62Asp)
|
rs1687101729
|
|
NM_001199138.2(NLRC4):c.1861A>G (p.Met621Val)
|
|
|
NM_001199138.2(NLRC4):c.1874A>G (p.Glu625Gly)
|
|
|
NM_001199138.2(NLRC4):c.1877del (p.Lys626fs)
|
rs1359892249
|
|
NM_001199138.2(NLRC4):c.1879G>A (p.Ala627Thr)
|
|
|
NM_001199138.2(NLRC4):c.1893del (p.Gly632fs)
|
|
|
NM_001199138.2(NLRC4):c.1894G>A (p.Gly632Ser)
|
|
|
NM_001199138.2(NLRC4):c.1895G>A (p.Gly632Asp)
|
|
|
NM_001199138.2(NLRC4):c.1897_1899dup (p.Gly633_Ile634insGly)
|
|
|
NM_001199138.2(NLRC4):c.1918C>T (p.Pro640Ser)
|
rs1687028070
|
|
NM_001199138.2(NLRC4):c.1925C>A (p.Thr642Asn)
|
|
|
NM_001199138.2(NLRC4):c.1933C>T (p.Pro645Ser)
|
|
|
NM_001199138.2(NLRC4):c.1934C>T (p.Pro645Leu)
|
rs751650141
|
|
NM_001199138.2(NLRC4):c.1941G>T (p.Arg647Ser)
|
|
|
NM_001199138.2(NLRC4):c.1952T>C (p.Leu651Ser)
|
|
|
NM_001199138.2(NLRC4):c.195C>A (p.Ser65=)
|
rs373028116
|
|
NM_001199138.2(NLRC4):c.1978A>G (p.Arg660Gly)
|
rs1687025755
|
|
NM_001199138.2(NLRC4):c.1982C>T (p.Thr661Ile)
|
|
|
NM_001199138.2(NLRC4):c.2021A>C (p.Lys674Thr)
|
|
|
NM_001199138.2(NLRC4):c.2030T>A (p.Ile677Asn)
|
|
|
NM_001199138.2(NLRC4):c.2035T>C (p.Tyr679His)
|
|
|
NM_001199138.2(NLRC4):c.2037T>A (p.Tyr679Ter)
|
|
|
NM_001199138.2(NLRC4):c.2038C>G (p.Leu680Val)
|
|
|
NM_001199138.2(NLRC4):c.2041G>C (p.Gly681Arg)
|
rs2148941693
|
|
NM_001199138.2(NLRC4):c.2043dup (p.Lys682fs)
|
rs1573492018
|
|
NM_001199138.2(NLRC4):c.2071A>G (p.Arg691Gly)
|
rs2148941671
|
|
NM_001199138.2(NLRC4):c.2089T>A (p.Cys697Ser)
|
|
|
NM_001199138.2(NLRC4):c.2089T>G (p.Cys697Gly)
|
rs1573491986
|
|
NM_001199138.2(NLRC4):c.2099T>G (p.Val700Gly)
|
|
|
NM_001199138.2(NLRC4):c.2100G>A (p.Val700=)
|
rs2148941641
|
|
NM_001199138.2(NLRC4):c.2105G>A (p.Gly702Glu)
|
|
|
NM_001199138.2(NLRC4):c.2111T>C (p.Leu704Pro)
|
|
|
NM_001199138.2(NLRC4):c.2126G>A (p.Ser709Asn)
|
|
|
NM_001199138.2(NLRC4):c.213dup (p.Ser72fs)
|
rs1369844308
|
|
NM_001199138.2(NLRC4):c.2156T>C (p.Val719Ala)
|
rs1573491846
|
|
NM_001199138.2(NLRC4):c.2196C>A (p.Ile732=)
|
rs2148941535
|
|
NM_001199138.2(NLRC4):c.21T>G (p.Asn7Lys)
|
rs145129525
|
|
NM_001199138.2(NLRC4):c.2200T>C (p.Ser734Pro)
|
|
|
NM_001199138.2(NLRC4):c.2204T>C (p.Val735Ala)
|
rs2148941521
|
|
NM_001199138.2(NLRC4):c.2222T>C (p.Leu741Ser)
|
|
|
NM_001199138.2(NLRC4):c.2231A>G (p.His744Arg)
|
|
|
NM_001199138.2(NLRC4):c.2232T>G (p.His744Gln)
|
rs745938557
|
|
NM_001199138.2(NLRC4):c.2244T>A (p.Asn748Lys)
|
|
|
NM_001199138.2(NLRC4):c.2255C>A (p.Pro752Gln)
|
rs147496633
|
|
NM_001199138.2(NLRC4):c.2263C>A (p.Leu755Met)
|
rs746131286
|
|
NM_001199138.2(NLRC4):c.2302C>T (p.Leu768Phe)
|
|
|
NM_001199138.2(NLRC4):c.2309T>G (p.Met770Arg)
|
|
|
NM_001199138.2(NLRC4):c.2325G>C (p.Met775Ile)
|
|
|
NM_001199138.2(NLRC4):c.2326A>G (p.Asn776Asp)
|
|
|
NM_001199138.2(NLRC4):c.2334A>T (p.Glu778Asp)
|
|
|
NM_001199138.2(NLRC4):c.2351-8T>G
|
|
|
NM_001199138.2(NLRC4):c.2351C>G (p.Ala784Gly)
|
|
|
NM_001199138.2(NLRC4):c.2359C>G (p.Leu787Val)
|
|
|
NM_001199138.2(NLRC4):c.2368C>G (p.Leu790Val)
|
rs1573477687
|
|
NM_001199138.2(NLRC4):c.236C>T (p.Pro79Leu)
|
rs1687099827
|
|
NM_001199138.2(NLRC4):c.2375A>G (p.Lys792Arg)
|
rs753274448
|
|
NM_001199138.2(NLRC4):c.2375A>T (p.Lys792Met)
|
|
|
NM_001199138.2(NLRC4):c.2378T>C (p.Met793Thr)
|
rs1558449800
|
|
NM_001199138.2(NLRC4):c.2386T>C (p.Phe796Leu)
|
rs1686716523
|
|
NM_001199138.2(NLRC4):c.241T>C (p.Phe81Leu)
|
|
|
NM_001199138.2(NLRC4):c.2430_2433del (p.Asp809_Tyr810insTer)
|
rs1686715407
|
|
NM_001199138.2(NLRC4):c.2434G>A (p.Val812Ile)
|
rs756798541
|
|
NM_001199138.2(NLRC4):c.2443_2444del (p.Leu815fs)
|
rs1254673382
|
|
NM_001199138.2(NLRC4):c.2449A>G (p.Ser817Gly)
|
rs755782497
|
|
NM_001199138.2(NLRC4):c.2450G>A (p.Ser817Asn)
|
|
|
NM_001199138.2(NLRC4):c.2458T>C (p.Cys820Arg)
|
rs773132182
|
|
NM_001199138.2(NLRC4):c.2467G>A (p.Glu823Lys)
|
rs2148935058
|
|
NM_001199138.2(NLRC4):c.2474T>C (p.Ile825Thr)
|
rs747331080
|
|
NM_001199138.2(NLRC4):c.2474T>G (p.Ile825Ser)
|
|
|
NM_001199138.2(NLRC4):c.2501C>T (p.Ala834Val)
|
|
|
NM_001199138.2(NLRC4):c.2522-7T>A
|
rs763042587
|
|
NM_001199138.2(NLRC4):c.2533C>T (p.His845Tyr)
|
rs761890286
|
|
NM_001199138.2(NLRC4):c.2545A>C (p.Lys849Gln)
|
|
|
NM_001199138.2(NLRC4):c.2552G>A (p.Ser851Asn)
|
|
|
NM_001199138.2(NLRC4):c.2560_2564del (p.Asp854fs)
|
rs1026050125
|
|
NM_001199138.2(NLRC4):c.2582A>C (p.Glu861Ala)
|
rs761293910
|
|
NM_001199138.2(NLRC4):c.2600C>T (p.Ala867Val)
|
|
|
NM_001199138.2(NLRC4):c.2602C>T (p.Leu868Phe)
|
|
|
NM_001199138.2(NLRC4):c.2614+6A>G
|
rs2148934086
|
|
NM_001199138.2(NLRC4):c.2615T>A (p.Ile872Asn)
|
|
|
NM_001199138.2(NLRC4):c.2616C>A (p.Ile872=)
|
|
|
NM_001199138.2(NLRC4):c.2617G>A (p.Asp873Asn)
|
|
|
NM_001199138.2(NLRC4):c.261A>G (p.Gln87=)
|
rs2148943725
|
|
NM_001199138.2(NLRC4):c.2631G>A (p.Val877=)
|
rs544474213
|
|
NM_001199138.2(NLRC4):c.2634_2642del (p.Glu879_Leu881del)
|
rs2148933747
|
|
NM_001199138.2(NLRC4):c.2656_2657delinsGG (p.Leu886Gly)
|
|
|
NM_001199138.2(NLRC4):c.2659C>A (p.Pro887Thr)
|
rs2148933725
|
|
NM_001199138.2(NLRC4):c.2663G>A (p.Trp888Ter)
|
rs1686652685
|
|
NM_001199138.2(NLRC4):c.2665G>A (p.Gly889Ser)
|
rs2148933719
|
|
NM_001199138.2(NLRC4):c.2668T>A (p.Cys890Ser)
|
rs544969923
|
|
NM_001199138.2(NLRC4):c.2669G>A (p.Cys890Tyr)
|
|
|
NM_001199138.2(NLRC4):c.2672A>C (p.Asp891Ala)
|
|
|
NM_001199138.2(NLRC4):c.2672_2674del (p.Asp891del)
|
rs1217280032
|
|
NM_001199138.2(NLRC4):c.2678A>G (p.Gln893Arg)
|
|
|
NM_001199138.2(NLRC4):c.2680G>T (p.Gly894Cys)
|
rs1686651887
|
|
NM_001199138.2(NLRC4):c.2713del (p.Glu905fs)
|
rs2148933689
|
|
NM_001199138.2(NLRC4):c.2714A>G (p.Glu905Gly)
|
|
|
NM_001199138.2(NLRC4):c.271C>T (p.His91Tyr)
|
rs1233211061
|
|
NM_001199138.2(NLRC4):c.272A>G (p.His91Arg)
|
rs1351575026
|
|
NM_001199138.2(NLRC4):c.2750G>A (p.Trp917Ter)
|
rs1313800784
|
|
NM_001199138.2(NLRC4):c.2751G>T (p.Trp917Cys)
|
rs989100389
|
|
NM_001199138.2(NLRC4):c.2756T>A (p.Leu919His)
|
|
|
NM_001199138.2(NLRC4):c.2765_2766del (p.Thr922fs)
|
|
|
NM_001199138.2(NLRC4):c.2789T>A (p.Phe930Tyr)
|
|
|
NM_001199138.2(NLRC4):c.2793dup (p.Gly932fs)
|
rs2148927621
|
|
NM_001199138.2(NLRC4):c.2804C>T (p.Pro935Leu)
|
|
|
NM_001199138.2(NLRC4):c.280T>C (p.Ser94Pro)
|
rs2148943204
|
|
NM_001199138.2(NLRC4):c.2822A>G (p.Gln941Arg)
|
rs2148927586
|
|
NM_001199138.2(NLRC4):c.2826G>C (p.Leu942Phe)
|
|
|
NM_001199138.2(NLRC4):c.2828A>G (p.Asn943Ser)
|
|
|
NM_001199138.2(NLRC4):c.2828A>T (p.Asn943Ile)
|
rs2148927574
|
|
NM_001199138.2(NLRC4):c.2835G>A (p.Ala945=)
|
rs1464438302
|
|
NM_001199138.2(NLRC4):c.2842C>T (p.Arg948Cys)
|
|
|
NM_001199138.2(NLRC4):c.2845G>C (p.Val949Leu)
|
rs2148927531
|
|
NM_001199138.2(NLRC4):c.286G>C (p.Gly96Arg)
|
rs1687079366
|
|
NM_001199138.2(NLRC4):c.2875G>A (p.Gly959Ser)
|
|
|
NM_001199138.2(NLRC4):c.2876G>A (p.Gly959Asp)
|
|
|
NM_001199138.2(NLRC4):c.287G>T (p.Gly96Val)
|
rs1558458628
|
|
NM_001199138.2(NLRC4):c.2900T>C (p.Leu967Ser)
|
|
|
NM_001199138.2(NLRC4):c.2908T>A (p.Phe970Ile)
|
|
|
NM_001199138.2(NLRC4):c.2908T>C (p.Phe970Leu)
|
|
|
NM_001199138.2(NLRC4):c.2924A>G (p.Lys975Arg)
|
rs945779246
|
|
NM_001199138.2(NLRC4):c.2927A>G (p.Glu976Gly)
|
rs775671534
|
|
NM_001199138.2(NLRC4):c.292T>G (p.Leu98Val)
|
|
|
NM_001199138.2(NLRC4):c.2938G>C (p.Asp980His)
|
rs1472895111
|
|
NM_001199138.2(NLRC4):c.2939A>T (p.Asp980Val)
|
|
|
NM_001199138.2(NLRC4):c.2945C>A (p.Ala982Glu)
|
rs147896952
|
|
NM_001199138.2(NLRC4):c.2951T>C (p.Val984Ala)
|
rs1573460915
|
|
NM_001199138.2(NLRC4):c.2968G>A (p.Val990Met)
|
rs1558441930
|
|
NM_001199138.2(NLRC4):c.297C>A (p.Asp99Glu)
|
|
|
NM_001199138.2(NLRC4):c.3004C>A (p.Leu1002Ile)
|
|
|
NM_001199138.2(NLRC4):c.3004C>T (p.Leu1002Phe)
|
rs372904047
|
|
NM_001199138.2(NLRC4):c.3026A>G (p.Asp1009Gly)
|
|
|
NM_001199138.2(NLRC4):c.3053C>G (p.Ala1018Gly)
|
rs1573460670
|
|
NM_001199138.2(NLRC4):c.3064G>C (p.Val1022Leu)
|
rs772124793
|
|
NM_001199138.2(NLRC4):c.3070G>A (p.Ala1024Thr)
|
|
|
NM_001199138.2(NLRC4):c.312T>G (p.Asp104Glu)
|
rs779306819
|
|
NM_001199138.2(NLRC4):c.318G>C (p.Lys106Asn)
|
|
|
NM_001199138.2(NLRC4):c.324G>C (p.Leu108Phe)
|
|
|
NM_001199138.2(NLRC4):c.327_329del (p.His110del)
|
rs1687078144
|
|
NM_001199138.2(NLRC4):c.331A>T (p.Thr111Ser)
|
|
|
NM_001199138.2(NLRC4):c.333C>G (p.Thr111=)
|
rs747791260
|
|
NM_001199138.2(NLRC4):c.337T>C (p.Ser113Pro)
|
|
|
NM_001199138.2(NLRC4):c.371T>G (p.Ile124Ser)
|
rs188120749
|
|
NM_001199138.2(NLRC4):c.374A>G (p.Asp125Gly)
|
|
|
NM_001199138.2(NLRC4):c.380T>A (p.Ile127Asn)
|
|
|
NM_001199138.2(NLRC4):c.380T>C (p.Ile127Thr)
|
rs369074805
|
|
NM_001199138.2(NLRC4):c.416T>C (p.Leu139Pro)
|
|
|
NM_001199138.2(NLRC4):c.430C>G (p.Gln144Glu)
|
|
|
NM_001199138.2(NLRC4):c.442C>T (p.Arg148Cys)
|
|
|
NM_001199138.2(NLRC4):c.443G>T (p.Arg148Leu)
|
rs377088692
|
|
NM_001199138.2(NLRC4):c.487A>G (p.Ser163Gly)
|
rs1176561773
|
|
NM_001199138.2(NLRC4):c.489C>A (p.Ser163Arg)
|
rs1415927391
|
|
NM_001199138.2(NLRC4):c.489C>G (p.Ser163Arg)
|
|
|
NM_001199138.2(NLRC4):c.494G>C (p.Cys165Ser)
|
rs1558458397
|
|
NM_001199138.2(NLRC4):c.514G>A (p.Gly172Ser)
|
rs1573495011
|
|
NM_001199138.2(NLRC4):c.515G>A (p.Gly172Asp)
|
|
|
NM_001199138.2(NLRC4):c.52A>G (p.Thr18Ala)
|
|
|
NM_001199138.2(NLRC4):c.541del (p.Arg181fs)
|
|
|
NM_001199138.2(NLRC4):c.542_543delinsAC (p.Arg181His)
|
rs2148943042
|
|
NM_001199138.2(NLRC4):c.542_543delinsCC (p.Arg181Pro)
|
|
|
NM_001199138.2(NLRC4):c.551T>C (p.Met184Thr)
|
rs2148943021
|
|
NM_001199138.2(NLRC4):c.569A>G (p.Lys190Arg)
|
|
|
NM_001199138.2(NLRC4):c.570G>C (p.Lys190Asn)
|
rs1427389272
|
|
NM_001199138.2(NLRC4):c.576G>C (p.Lys192Asn)
|
|
|
NM_001199138.2(NLRC4):c.591C>T (p.Phe197=)
|
|
|
NM_001199138.2(NLRC4):c.608T>A (p.Leu203His)
|
|
|
NM_001199138.2(NLRC4):c.610C>T (p.Arg204Cys)
|
rs573520680
|
|
NM_001199138.2(NLRC4):c.612_613delinsAA (p.Leu205Ile)
|
|
|
NM_001199138.2(NLRC4):c.627G>C (p.Gln209His)
|
rs1473947585
|
|
NM_001199138.2(NLRC4):c.628G>T (p.Gly210Cys)
|
rs1183084195
|
|
NM_001199138.2(NLRC4):c.634C>G (p.Leu212Val)
|
|
|
NM_001199138.2(NLRC4):c.648C>A (p.Leu216=)
|
rs1474523535
|
|
NM_001199138.2(NLRC4):c.652G>A (p.Asp218Asn)
|
rs1687068928
|
|
NM_001199138.2(NLRC4):c.655C>T (p.Gln219Ter)
|
rs762280260
|
|
NM_001199138.2(NLRC4):c.679A>G (p.Ile227Val)
|
|
|
NM_001199138.2(NLRC4):c.705G>A (p.Met235Ile)
|
|
|
NM_001199138.2(NLRC4):c.719G>A (p.Arg240Gln)
|
|
|
NM_001199138.2(NLRC4):c.730C>A (p.Leu244Ile)
|
|
|
NM_001199138.2(NLRC4):c.733T>G (p.Phe245Val)
|
rs979603097
|
|
NM_001199138.2(NLRC4):c.734T>A (p.Phe245Tyr)
|
rs1687066883
|
|
NM_001199138.2(NLRC4):c.73G>A (p.Asp25Asn)
|
rs2148943898
|
|
NM_001199138.2(NLRC4):c.740T>C (p.Leu247Pro)
|
|
|
NM_001199138.2(NLRC4):c.741_742insTTTTTTTTTTNNNNNNNNNNGGGAGACCGTGGAGGGAGACGGAGACGGAGACGGAGACGGAGACGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGTTCTTTTCCTTCTT (p.Leu247_Asp248insPhePhePheXaaXaaXaaXaaGlyAspArgGlyGlyArgArgArgArgArgArgArgArgArgArgArgGlyArgGlyArgGlyArgGlyArgGlyArgGlyArgGlyArgGlyArgValLeuPheLeuLeu)
|
|
|
NM_001199138.2(NLRC4):c.745G>A (p.Gly249Ser)
|
|
|
NM_001199138.2(NLRC4):c.773G>A (p.Cys258Tyr)
|
rs2148942826
|
|
NM_001199138.2(NLRC4):c.784G>A (p.Glu262Lys)
|
|
|
NM_001199138.2(NLRC4):c.805C>T (p.His269Tyr)
|
|
|
NM_001199138.2(NLRC4):c.817A>T (p.Asn273Tyr)
|
|
|
NM_001199138.2(NLRC4):c.833C>T (p.Thr278Ile)
|
|
|
NM_001199138.2(NLRC4):c.839C>T (p.Thr280Ile)
|
|
|
NM_001199138.2(NLRC4):c.845A>C (p.Glu282Ala)
|
rs769709902
|
|
NM_001199138.2(NLRC4):c.854G>A (p.Arg285Lys)
|
rs1687062402
|
|
NM_001199138.2(NLRC4):c.862C>G (p.Arg288Gly)
|
rs747147167
|
|
NM_001199138.2(NLRC4):c.862C>T (p.Arg288Trp)
|
|
|
NM_001199138.2(NLRC4):c.881C>T (p.Thr294Ile)
|
rs2148942719
|
|
NM_001199138.2(NLRC4):c.890T>A (p.Val297Glu)
|
rs1573494293
|
|
NM_001199138.2(NLRC4):c.893G>A (p.Gly298Glu)
|
|
|
NM_001199138.2(NLRC4):c.8T>C (p.Phe3Ser)
|
rs2148943940
|
|
NM_001199138.2(NLRC4):c.920C>T (p.Ala307Val)
|
|
|
NM_001199138.2(NLRC4):c.926T>A (p.Ile309Asn)
|
rs1687060135
|
|
NM_001199138.2(NLRC4):c.944A>G (p.Lys315Arg)
|
rs768275257
|
|
NM_001199138.2(NLRC4):c.944A>T (p.Lys315Met)
|
|
|
NM_001199138.2(NLRC4):c.952G>C (p.Ala318Pro)
|
|
|
NM_001199138.2(NLRC4):c.967C>T (p.Leu323Phe)
|
|
|
NM_001199138.2(NLRC4):c.97C>G (p.Leu33Val)
|
rs773645495
|
|
NM_001199397.3(NEK1):c.118-10C>T
|
rs1330006018
|
|
NM_001199397.3(NEK1):c.1628A>G (p.Glu543Gly)
|
rs2149814328
|
|
NM_001199397.3(NEK1):c.894C>G (p.Asn298Lys)
|
rs745526568
|
|
NM_001205.3(BNIP1):c.84+3A>T
|
rs2113831423
|
|
NM_001242.5(CD27):c.37G>A (p.Gly13Arg)
|
rs146726863
|
|
NM_001242.5(CD27):c.734T>A (p.Ile245Asn)
|
rs2136971508
|
|
NM_001243133.2(NLRP3):c.*139T>G
|
rs1664758254
|
|
NM_001243133.2(NLRP3):c.*2A>G
|
rs1664748029
|
|
NM_001243133.2(NLRP3):c.-482dup
|
rs144128307
|
|
NM_001243133.2(NLRP3):c.-523G>A
|
rs1662192950
|
|
NM_001243133.2(NLRP3):c.-533C>G
|
rs141994679
|
|
NM_001243133.2(NLRP3):c.1011G>C (p.Lys337Asn)
|
rs766978634
|
|
NM_001243133.2(NLRP3):c.1016T>C (p.Leu339Pro)
|
|
|
NM_001243133.2(NLRP3):c.104G>T (p.Gly35Val)
|
|
|
NM_001243133.2(NLRP3):c.1051G>A (p.Val351Met)
|
rs180177463
|
|
NM_001243133.2(NLRP3):c.1054G>T (p.Ala352Ser)
|
|
|
NM_001243133.2(NLRP3):c.1057C>T (p.Leu353=)
|
rs2103108898
|
|
NM_001243133.2(NLRP3):c.1064A>G (p.Lys355Arg)
|
rs876660972
|
|
NM_001243133.2(NLRP3):c.1081G>A (p.Asp361Asn)
|
|
|
NM_001243133.2(NLRP3):c.1090C>T (p.Arg364Trp)
|
rs994458759
|
|
NM_001243133.2(NLRP3):c.1132G>A (p.Glu378Lys)
|
|
|
NM_001243133.2(NLRP3):c.113C>G (p.Pro38Arg)
|
|
|
NM_001243133.2(NLRP3):c.1140C>T (p.Phe380=)
|
rs2103109353
|
|
NM_001243133.2(NLRP3):c.1153T>C (p.Ser385Pro)
|
rs199680838
|
|
NM_001243133.2(NLRP3):c.1153T>G (p.Ser385Ala)
|
rs199680838
|
|
NM_001243133.2(NLRP3):c.1159G>A (p.Glu387Lys)
|
rs1449410815
|
|
NM_001243133.2(NLRP3):c.1175C>A (p.Ala392Glu)
|
rs1553286687
|
|
NM_001243133.2(NLRP3):c.1178C>G (p.Ala393Gly)
|
|
|
NM_001243133.2(NLRP3):c.118C>T (p.Pro40Ser)
|
rs1662241543
|
|
NM_001243133.2(NLRP3):c.1190T>C (p.Ile397Thr)
|
rs1003706636
|
|
NM_001243133.2(NLRP3):c.1222T>G (p.Phe408Val)
|
|
|
NM_001243133.2(NLRP3):c.1246G>A (p.Val416Met)
|
|
|
NM_001243133.2(NLRP3):c.1246G>T (p.Val416Leu)
|
|
|
NM_001243133.2(NLRP3):c.1274A>C (p.Glu425Ala)
|
|
|
NM_001243133.2(NLRP3):c.1277G>A (p.Ser426Asn)
|
|
|
NM_001243133.2(NLRP3):c.127C>T (p.Gln43Ter)
|
rs1558185400
|
|
NM_001243133.2(NLRP3):c.1297A>T (p.Thr433Ser)
|
|
|
NM_001243133.2(NLRP3):c.1306A>G (p.Thr436Ala)
|
rs180177465
|
|
NM_001243133.2(NLRP3):c.131C>G (p.Thr44Arg)
|
|
|
NM_001243133.2(NLRP3):c.1333del (p.Leu445fs)
|
|
|
NM_001243133.2(NLRP3):c.1364G>A (p.Ser455Asn)
|
|
|
NM_001243133.2(NLRP3):c.1365C>A (p.Ser455Arg)
|
rs777985232
|
|
NM_001243133.2(NLRP3):c.1374C>A (p.His458Gln)
|
rs180177481
|
|
NM_001243133.2(NLRP3):c.1374C>G (p.His458Gln)
|
|
|
NM_001243133.2(NLRP3):c.1376G>A (p.Gly459Asp)
|
|
|
NM_001243133.2(NLRP3):c.1376G>C (p.Gly459Ala)
|
rs1662748039
|
|
NM_001243133.2(NLRP3):c.1382G>A (p.Cys461Tyr)
|
rs764806756
|
|
NM_001243133.2(NLRP3):c.1387C>T (p.His463Tyr)
|
rs766893777
|
|
NM_001243133.2(NLRP3):c.1402T>C (p.Cys468Arg)
|
rs2103110741
|
|
NM_001243133.2(NLRP3):c.1406C>T (p.Ser469Phe)
|
|
|
NM_001243133.2(NLRP3):c.1415C>A (p.Ala472Glu)
|
|
|
NM_001243133.2(NLRP3):c.1426T>A (p.Trp476Arg)
|
|
|
NM_001243133.2(NLRP3):c.1437A>T (p.Lys479Asn)
|
|
|
NM_001243133.2(NLRP3):c.1456G>A (p.Asp486Asn)
|
|
|
NM_001243133.2(NLRP3):c.1462A>T (p.Arg488Trp)
|
|
|
NM_001243133.2(NLRP3):c.1465A>C (p.Asn489His)
|
|
|
NM_001243133.2(NLRP3):c.1467T>A (p.Asn489Lys)
|
rs2103110971
|
|
NM_001243133.2(NLRP3):c.1478A>G (p.Gln493Arg)
|
rs768582957
|
|
NM_001243133.2(NLRP3):c.1487A>T (p.Asp496Val)
|
rs1662755558
|
|
NM_001243133.2(NLRP3):c.1493C>G (p.Ser498Cys)
|
|
|
NM_001243133.2(NLRP3):c.1508T>A (p.Met503Lys)
|
|
|
NM_001243133.2(NLRP3):c.1513C>A (p.Leu505Met)
|
|
|
NM_001243133.2(NLRP3):c.1537G>A (p.Glu513Lys)
|
|
|
NM_001243133.2(NLRP3):c.154C>G (p.Leu52Val)
|
rs1475761802
|
|
NM_001243133.2(NLRP3):c.1552T>C (p.Phe518Leu)
|
rs2103111336
|
|
NM_001243133.2(NLRP3):c.1592A>T (p.Tyr531Phe)
|
|
|
NM_001243133.2(NLRP3):c.1612A>G (p.Lys538Glu)
|
|
|
NM_001243133.2(NLRP3):c.1615G>C (p.Glu539Gln)
|
|
|
NM_001243133.2(NLRP3):c.1633C>G (p.Pro545Ala)
|
rs200088340
|
|
NM_001243133.2(NLRP3):c.1670C>T (p.Thr557Ile)
|
|
|
NM_001243133.2(NLRP3):c.1675C>T (p.Leu559Phe)
|
|
|
NM_001243133.2(NLRP3):c.1677_1679del (p.Leu560del)
|
rs2103112144
|
|
NM_001243133.2(NLRP3):c.1697T>A (p.Phe566Tyr)
|
rs1572172789
|
|
NM_001243133.2(NLRP3):c.1711T>G (p.Leu571Val)
|
rs1572172911
|
|
NM_001243133.2(NLRP3):c.1713G>T (p.Leu571Phe)
|
rs180177489
|
|
NM_001243133.2(NLRP3):c.172G>A (p.Asp58Asn)
|
rs1131691891
|
|
NM_001243133.2(NLRP3):c.1741C>G (p.Leu581Val)
|
rs756111783
|
|
NM_001243133.2(NLRP3):c.1745T>A (p.Val582Glu)
|
|
|
NM_001243133.2(NLRP3):c.1775A>G (p.Lys592Arg)
|
|
|
NM_001243133.2(NLRP3):c.1777A>G (p.Lys593Glu)
|
|
|
NM_001243133.2(NLRP3):c.1795T>A (p.Ser599Thr)
|
rs2103112632
|
|
NM_001243133.2(NLRP3):c.1796C>G (p.Ser599Cys)
|
|
|
NM_001243133.2(NLRP3):c.179A>G (p.Asn60Ser)
|
rs2103084344
|
|
NM_001243133.2(NLRP3):c.1811T>A (p.Leu604Gln)
|
|
|
NM_001243133.2(NLRP3):c.1829T>C (p.Ile610Thr)
|
rs1572173298
|
|
NM_001243133.2(NLRP3):c.1888T>C (p.Tyr630His)
|
|
|
NM_001243133.2(NLRP3):c.1889A>T (p.Tyr630Phe)
|
rs1572173465
|
|
NM_001243133.2(NLRP3):c.1899C>G (p.Tyr633Ter)
|
rs200089426
|
|
NM_001243133.2(NLRP3):c.1903A>T (p.Met635Leu)
|
rs1176676245
|
|
NM_001243133.2(NLRP3):c.1904T>C (p.Met635Thr)
|
|
|
NM_001243133.2(NLRP3):c.1907A>G (p.Gln636Arg)
|
rs1426037593
|
|
NM_001243133.2(NLRP3):c.1912G>A (p.Glu638Lys)
|
|
|
NM_001243133.2(NLRP3):c.1939T>A (p.Tyr647Asn)
|
rs2103113246
|
|
NM_001243133.2(NLRP3):c.1944C>A (p.Phe648Leu)
|
rs1230268213
|
|
NM_001243133.2(NLRP3):c.1946C>G (p.Pro649Arg)
|
rs1662796733
|
|
NM_001243133.2(NLRP3):c.1946C>T (p.Pro649Leu)
|
rs1662796733
|
|
NM_001243133.2(NLRP3):c.1966T>A (p.Ser656Thr)
|
|
|
NM_001243133.2(NLRP3):c.1970C>A (p.Thr657Asn)
|
rs201875324
|
|
NM_001243133.2(NLRP3):c.1984A>G (p.Met662Val)
|
|
|
NM_001243133.2(NLRP3):c.1996T>G (p.Phe666Val)
|
rs2103113519
|
|
NM_001243133.2(NLRP3):c.2012G>C (p.Cys671Ser)
|
rs199885115
|
|
NM_001243133.2(NLRP3):c.2017C>T (p.Arg673Trp)
|
|
|
NM_001243133.2(NLRP3):c.2029C>G (p.Leu677Val)
|
rs2103113605
|
|
NM_001243133.2(NLRP3):c.2049T>G (p.His683Gln)
|
|
|
NM_001243133.2(NLRP3):c.2050A>G (p.Asn684Asp)
|
|
|
NM_001243133.2(NLRP3):c.2068G>A (p.Glu690Lys)
|
rs180177495
|
|
NM_001243133.2(NLRP3):c.2071G>A (p.Glu691Lys)
|
|
|
NM_001243133.2(NLRP3):c.2082G>C (p.Lys694Asn)
|
rs2103113800
|
|
NM_001243133.2(NLRP3):c.208G>C (p.Val70Leu)
|
rs117287351
|
|
NM_001243133.2(NLRP3):c.2090G>A (p.Arg697Gln)
|
|
|
NM_001243133.2(NLRP3):c.2101A>G (p.Met701Val)
|
|
|
NM_001243133.2(NLRP3):c.2105T>G (p.Val702Gly)
|
|
|
NM_001243133.2(NLRP3):c.2132A>C (p.His711Pro)
|
|
|
NM_001243133.2(NLRP3):c.2132A>T (p.His711Leu)
|
rs767805817
|
|
NM_001243133.2(NLRP3):c.2150+6_2150+7delinsTT
|
rs2103114278
|
|
NM_001243133.2(NLRP3):c.2151-6T>A
|
|
|
NM_001243133.2(NLRP3):c.2155G>A (p.Val719Met)
|
|
|
NM_001243133.2(NLRP3):c.2159A>C (p.Asn720Thr)
|
rs1663161123
|
|
NM_001243133.2(NLRP3):c.215T>A (p.Ile72Asn)
|
|
|
NM_001243133.2(NLRP3):c.2167C>A (p.Leu723Ile)
|
rs2103132240
|
|
NM_001243133.2(NLRP3):c.2185C>T (p.Arg729Trp)
|
|
|
NM_001243133.2(NLRP3):c.2206A>C (p.Ser736Arg)
|
|
|
NM_001243133.2(NLRP3):c.2214C>A (p.Ser738Arg)
|
rs183128734
|
|
NM_001243133.2(NLRP3):c.2214C>G (p.Ser738Arg)
|
|
|
NM_001243133.2(NLRP3):c.2219G>A (p.Ser740Asn)
|
rs200371066
|
|
NM_001243133.2(NLRP3):c.2236C>T (p.Leu746Phe)
|
|
|
NM_001243133.2(NLRP3):c.2239A>C (p.Ser747Arg)
|
|
|
NM_001243133.2(NLRP3):c.2248T>C (p.Ser750Pro)
|
rs2103132559
|
|
NM_001243133.2(NLRP3):c.224C>A (p.Ala75Glu)
|
rs200288250
|
|
NM_001243133.2(NLRP3):c.224C>T (p.Ala75Val)
|
rs200288250
|
|
NM_001243133.2(NLRP3):c.2255G>A (p.Gly752Glu)
|
rs1305028279
|
|
NM_001243133.2(NLRP3):c.2257G>A (p.Asp753Asn)
|
|
|
NM_001243133.2(NLRP3):c.2270G>A (p.Arg757Lys)
|
rs201466599
|
|
NM_001243133.2(NLRP3):c.2299G>A (p.Gly767Ser)
|
rs866534904
|
|
NM_001243133.2(NLRP3):c.2311C>A (p.Arg771=)
|
rs757698137
|
|
NM_001243133.2(NLRP3):c.2311C>T (p.Arg771Trp)
|
|
|
NM_001243133.2(NLRP3):c.2323T>A (p.Leu775Met)
|
|
|
NM_001243133.2(NLRP3):c.2330G>A (p.Arg777His)
|
rs1663599540
|
|
NM_001243133.2(NLRP3):c.2342C>T (p.Ser781Leu)
|
rs201969526
|
|
NM_001243133.2(NLRP3):c.234G>C (p.Arg78Ser)
|
|
|
NM_001243133.2(NLRP3):c.2358C>A (p.Phe786Leu)
|
|
|
NM_001243133.2(NLRP3):c.2371G>T (p.Val791Phe)
|
|
|
NM_001243133.2(NLRP3):c.2377A>T (p.Ser793Cys)
|
|
|
NM_001243133.2(NLRP3):c.2387A>G (p.Gln796Arg)
|
rs2103162880
|
|
NM_001243133.2(NLRP3):c.2392C>G (p.Leu798Val)
|
|
|
NM_001243133.2(NLRP3):c.2399A>T (p.Glu800Val)
|
|
|
NM_001243133.2(NLRP3):c.2405A>G (p.Asp802Gly)
|
|
|
NM_001243133.2(NLRP3):c.2420C>A (p.Ala807Asp)
|
|
|
NM_001243133.2(NLRP3):c.2428G>A (p.Asp810Asn)
|
|
|
NM_001243133.2(NLRP3):c.2435G>C (p.Gly812Ala)
|
|
|
NM_001243133.2(NLRP3):c.2452G>T (p.Val818Leu)
|
|
|
NM_001243133.2(NLRP3):c.2459T>C (p.Leu820Pro)
|
|
|
NM_001243133.2(NLRP3):c.2488C>G (p.Leu830Val)
|
|
|
NM_001243133.2(NLRP3):c.2505C>T (p.Cys835=)
|
rs1351993448
|
|
NM_001243133.2(NLRP3):c.2510T>C (p.Leu837Pro)
|
|
|
NM_001243133.2(NLRP3):c.2521T>G (p.Cys841Gly)
|
rs2103173487
|
|
NM_001243133.2(NLRP3):c.2525G>T (p.Cys842Phe)
|
rs2103173520
|
|
NM_001243133.2(NLRP3):c.2551A>G (p.Thr851Ala)
|
|
|
NM_001243133.2(NLRP3):c.2552C>T (p.Thr851Ile)
|
|
|
NM_001243133.2(NLRP3):c.2567C>A (p.Thr856Asn)
|
rs2103173891
|
|
NM_001243133.2(NLRP3):c.2570G>A (p.Arg857Lys)
|
|
|
NM_001243133.2(NLRP3):c.2576A>C (p.Tyr859Ser)
|
rs180177452
|
|
NM_001243133.2(NLRP3):c.2578G>A (p.Val860Met)
|
rs2103174115
|
|
NM_001243133.2(NLRP3):c.260G>A (p.Arg87Lys)
|
|
|
NM_001243133.2(NLRP3):c.2610C>T (p.Val870=)
|
rs140618467
|
|
NM_001243133.2(NLRP3):c.2618T>A (p.Leu873Ter)
|
|
|
NM_001243133.2(NLRP3):c.2632A>G (p.Lys878Glu)
|
rs1057515488
|
|
NM_001243133.2(NLRP3):c.2638C>T (p.Pro880Ser)
|
rs1663776046
|
|
NM_001243133.2(NLRP3):c.2663+1G>C
|
|
|
NM_001243133.2(NLRP3):c.2664-3C>T
|
|
|
NM_001243133.2(NLRP3):c.2664G>T (p.Gly888=)
|
|
|
NM_001243133.2(NLRP3):c.2667G>T (p.Leu889Phe)
|
|
|
NM_001243133.2(NLRP3):c.2669T>C (p.Val890Ala)
|
|
|
NM_001243133.2(NLRP3):c.2678G>C (p.Gly893Ala)
|
|
|
NM_001243133.2(NLRP3):c.2684C>A (p.Thr895Lys)
|
|
|
NM_001243133.2(NLRP3):c.2702C>A (p.Ala901Asp)
|
|
|
NM_001243133.2(NLRP3):c.2702C>T (p.Ala901Val)
|
|
|
NM_001243133.2(NLRP3):c.2711C>T (p.Ser904Leu)
|
|
|
NM_001243133.2(NLRP3):c.2725A>G (p.Asn909Asp)
|
rs1297130802
|
|
NM_001243133.2(NLRP3):c.2742C>A (p.His914Gln)
|
|
|
NM_001243133.2(NLRP3):c.2753G>A (p.Arg918Gln)
|
rs1553293095
|
|
NM_001243133.2(NLRP3):c.2756G>A (p.Gly919Asp)
|
rs2103233129
|
|
NM_001243133.2(NLRP3):c.2767G>C (p.Gly923Arg)
|
|
|
NM_001243133.2(NLRP3):c.2772C>G (p.Asp924Glu)
|
rs2103233246
|
|
NM_001243133.2(NLRP3):c.2774A>C (p.Lys925Thr)
|
|
|
NM_001243133.2(NLRP3):c.2784A>C (p.Lys928Asn)
|
rs876660975
|
|
NM_001243133.2(NLRP3):c.2804T>G (p.Leu935Trp)
|
|
|
NM_001243133.2(NLRP3):c.2822T>C (p.Leu941Pro)
|
|
|
NM_001243133.2(NLRP3):c.2829G>A (p.Val943=)
|
|
|
NM_001243133.2(NLRP3):c.2834+1G>A
|
rs1572228102
|
|
NM_001243133.2(NLRP3):c.2841C>A (p.Asp947Glu)
|
rs1459653470
|
|
NM_001243133.2(NLRP3):c.2841C>T (p.Asp947=)
|
|
|
NM_001243133.2(NLRP3):c.2860C>T (p.His954Tyr)
|
|
|
NM_001243133.2(NLRP3):c.2878T>A (p.Ser960Thr)
|
|
|
NM_001243133.2(NLRP3):c.2878_2886del (p.Ser960_Leu962del)
|
|
|
NM_001243133.2(NLRP3):c.2884C>T (p.Leu962Phe)
|
|
|
NM_001243133.2(NLRP3):c.2893T>A (p.Ser965Thr)
|
|
|
NM_001243133.2(NLRP3):c.2901G>C (p.Gln967His)
|
|
|
NM_001243133.2(NLRP3):c.2904C>A (p.Ser968Arg)
|
|
|
NM_001243133.2(NLRP3):c.2908C>T (p.Arg970Ter)
|
rs1450171900
|
|
NM_001243133.2(NLRP3):c.2909G>A (p.Arg970Gln)
|
|
|
NM_001243133.2(NLRP3):c.292C>G (p.Arg98Gly)
|
rs375013904
|
|
NM_001243133.2(NLRP3):c.292C>T (p.Arg98Cys)
|
rs375013904
|
|
NM_001243133.2(NLRP3):c.2944C>G (p.Leu982Val)
|
rs1572229891
|
|
NM_001243133.2(NLRP3):c.2945T>G (p.Leu982Arg)
|
|
|
NM_001243133.2(NLRP3):c.2946G>A (p.Leu982=)
|
|
|
NM_001243133.2(NLRP3):c.2950G>A (p.Val984Ile)
|
|
|
NM_001243133.2(NLRP3):c.2987_3001dup (p.Asn1000_Leu1001insArgLeuLeuGlnAsn)
|
|
|
NM_001243133.2(NLRP3):c.3011C>T (p.Ser1004Phe)
|
|
|
NM_001243133.2(NLRP3):c.3013G>T (p.Glu1005Ter)
|
rs1222702587
|
|
NM_001243133.2(NLRP3):c.3029A>C (p.Tyr1010Ser)
|
|
|
NM_001243133.2(NLRP3):c.302A>G (p.Asn101Ser)
|
|
|
NM_001243133.2(NLRP3):c.303T>A (p.Asn101Lys)
|
rs1572165308
|
|
NM_001243133.2(NLRP3):c.3042T>C (p.Ser1014=)
|
rs1057515489
|
|
NM_001243133.2(NLRP3):c.3044C>T (p.Ala1015Val)
|
rs2103261687
|
|
NM_001243133.2(NLRP3):c.3091G>C (p.Glu1031Gln)
|
rs1572239975
|
|
NM_001243133.2(NLRP3):c.3095C>A (p.Pro1032His)
|
rs2103261854
|
|
NM_001243133.2(NLRP3):c.346A>T (p.Met116Leu)
|
|
|
NM_001243133.2(NLRP3):c.348G>A (p.Met116Ile)
|
|
|
NM_001243133.2(NLRP3):c.349G>A (p.Gly117Ser)
|
|
|
NM_001243133.2(NLRP3):c.358G>T (p.Glu120Ter)
|
rs868381519
|
|
NM_001243133.2(NLRP3):c.379A>G (p.Ile127Val)
|
|
|
NM_001243133.2(NLRP3):c.397+5G>A
|
rs1232636611
|
|
NM_001243133.2(NLRP3):c.397+5G>T
|
rs1232636611
|
|
NM_001243133.2(NLRP3):c.411G>T (p.Lys137Asn)
|
rs1572167035
|
|
NM_001243133.2(NLRP3):c.419A>G (p.Lys140Arg)
|
rs2103105213
|
|
NM_001243133.2(NLRP3):c.423C>G (p.Tyr141Ter)
|
|
|
NM_001243133.2(NLRP3):c.424G>A (p.Val142Met)
|
|
|
NM_001243133.2(NLRP3):c.442T>G (p.Cys148Gly)
|
rs1662655784
|
|
NM_001243133.2(NLRP3):c.463C>T (p.Arg155Cys)
|
|
|
NM_001243133.2(NLRP3):c.490A>G (p.Lys164Glu)
|
|
|
NM_001243133.2(NLRP3):c.523C>T (p.His175Tyr)
|
rs1662663283
|
|
NM_001243133.2(NLRP3):c.530G>A (p.Ser177Asn)
|
rs1019344995
|
|
NM_001243133.2(NLRP3):c.540G>T (p.Glu180Asp)
|
|
|
NM_001243133.2(NLRP3):c.545A>T (p.Glu182Val)
|
|
|
NM_001243133.2(NLRP3):c.564C>A (p.Ile188=)
|
rs147631017
|
|
NM_001243133.2(NLRP3):c.565G>A (p.Gly189Ser)
|
rs201877163
|
|
NM_001243133.2(NLRP3):c.575A>G (p.Lys192Arg)
|
rs2103105985
|
|
NM_001243133.2(NLRP3):c.608T>C (p.Met203Thr)
|
rs2103106207
|
|
NM_001243133.2(NLRP3):c.610G>A (p.Glu204Lys)
|
rs1558189985
|
|
NM_001243133.2(NLRP3):c.623A>G (p.Asp208Gly)
|
|
|
NM_001243133.2(NLRP3):c.632A>G (p.Asp211Gly)
|
rs1338960862
|
|
NM_001243133.2(NLRP3):c.641C>A (p.Ser214Tyr)
|
|
|
NM_001243133.2(NLRP3):c.644A>G (p.Glu215Gly)
|
rs2103106447
|
|
NM_001243133.2(NLRP3):c.692C>T (p.Thr231Ile)
|
|
|
NM_001243133.2(NLRP3):c.700G>A (p.Ala234Thr)
|
|
|
NM_001243133.2(NLRP3):c.715T>A (p.Leu239Met)
|
rs1395728949
|
|
NM_001243133.2(NLRP3):c.724_725delinsAA (p.Ala242Lys)
|
|
|
NM_001243133.2(NLRP3):c.743A>G (p.Gln248Arg)
|
rs876660971
|
|
NM_001243133.2(NLRP3):c.745G>C (p.Asp249His)
|
|
|
NM_001243133.2(NLRP3):c.763_764del (p.Phe255fs)
|
rs1572168726
|
|
NM_001243133.2(NLRP3):c.779G>C (p.Arg260Pro)
|
rs180177442
|
|
NM_001243133.2(NLRP3):c.779_780delinsAG (p.Arg260Gln)
|
|
|
NM_001243133.2(NLRP3):c.779_780delinsTG (p.Arg260Leu)
|
|
|
NM_001243133.2(NLRP3):c.793G>A (p.Val265Met)
|
|
|
NM_001243133.2(NLRP3):c.79T>G (p.Leu27Val)
|
|
|
NM_001243133.2(NLRP3):c.800A>G (p.Gln267Arg)
|
|
|
NM_001243133.2(NLRP3):c.817C>G (p.Leu273Val)
|
|
|
NM_001243133.2(NLRP3):c.838G>A (p.Asp280Asn)
|
|
|
NM_001243133.2(NLRP3):c.842C>T (p.Pro281Leu)
|
|
|
NM_001243133.2(NLRP3):c.848C>T (p.Pro283Leu)
|
rs1572169138
|
|
NM_001243133.2(NLRP3):c.859A>G (p.Lys287Glu)
|
|
|
NM_001243133.2(NLRP3):c.865G>T (p.Val289Leu)
|
|
|
NM_001243133.2(NLRP3):c.881G>A (p.Arg294Lys)
|
rs1662697946
|
|
NM_001243133.2(NLRP3):c.895A>G (p.Met299Val)
|
rs180177494
|
|
NM_001243133.2(NLRP3):c.898G>C (p.Asp300His)
|
rs1662700271
|
|
NM_001243133.2(NLRP3):c.912G>C (p.Glu304Asp)
|
rs1572169394
|
|
NM_001243133.2(NLRP3):c.91C>T (p.Pro31Ser)
|
|
|
NM_001243133.2(NLRP3):c.92C>T (p.Pro31Leu)
|
rs2103083866
|
|
NM_001243133.2(NLRP3):c.937A>C (p.Ile313Leu)
|
|
|
NM_001243133.2(NLRP3):c.938T>C (p.Ile313Thr)
|
rs1477164195
|
|
NM_001243133.2(NLRP3):c.940G>A (p.Gly314Arg)
|
|
|
NM_001243133.2(NLRP3):c.94C>T (p.Pro32Ser)
|
rs1662238131
|
|
NM_001243133.2(NLRP3):c.964A>G (p.Lys322Glu)
|
rs1662708025
|
|
NM_001243133.2(NLRP3):c.968C>T (p.Ala323Val)
|
rs1662708283
|
|
NM_001243133.2(NLRP3):c.970G>A (p.Glu324Lys)
|
|
|
NM_001243133.2(NLRP3):c.974G>A (p.Arg325Gln)
|
|
|
NM_001243133.2(NLRP3):c.977G>C (p.Gly326Ala)
|
|
|
NM_001243133.2(NLRP3):c.977G>T (p.Gly326Val)
|
rs180177456
|
|
NM_001243133.2(NLRP3):c.985C>G (p.Leu329Val)
|
|
|
NM_001270508.2(TNFAIP3):c.1102C>T (p.His368Tyr)
|
|
|
NM_001270508.2(TNFAIP3):c.113A>G (p.His38Arg)
|
|
|
NM_001270508.2(TNFAIP3):c.1474A>C (p.Asn492His)
|
|
|
NM_001270508.2(TNFAIP3):c.1555G>A (p.Gly519Arg)
|
rs762149390
|
|
NM_001270508.2(TNFAIP3):c.1809G>T (p.Gly603=)
|
rs201052251
|
|
NM_001270508.2(TNFAIP3):c.181C>T (p.Arg61Trp)
|
|
|
NM_001270508.2(TNFAIP3):c.2137A>G (p.Arg713Gly)
|
|
|
NM_001270508.2(TNFAIP3):c.2149G>A (p.Ala717Thr)
|
|
|
NM_001270508.2(TNFAIP3):c.227C>T (p.Thr76Ile)
|
rs1776060477
|
|
NM_001270508.2(TNFAIP3):c.260G>A (p.Arg87Gln)
|
|
|
NM_001270508.2(TNFAIP3):c.547C>G (p.Arg183Gly)
|
rs1423560438
|
|
NM_001270508.2(TNFAIP3):c.649A>C (p.Ser217Arg)
|
|
|
NM_001270508.2(TNFAIP3):c.872T>G (p.Leu291Trp)
|
|
|
NM_001270508.2(TNFAIP3):c.881C>T (p.Pro294Leu)
|
rs756723486
|
|
NM_001270508.2(TNFAIP3):c.980C>T (p.Ala327Val)
|
rs1210641937
|
|
NM_001282225.2(ADA2):c.1003_1004inv (p.His335Cys)
|
|
|
NM_001282225.2(ADA2):c.1004A>C (p.His335Pro)
|
|
|
NM_001282225.2(ADA2):c.1018G>T (p.Ala340Ser)
|
rs1601430690
|
|
NM_001282225.2(ADA2):c.101G>C (p.Arg34Pro)
|
|
|
NM_001282225.2(ADA2):c.1030C>T (p.Pro344Ser)
|
rs2123633992
|
|
NM_001282225.2(ADA2):c.1033G>C (p.Ala345Pro)
|
rs752798667
|
|
NM_001282225.2(ADA2):c.1039G>A (p.Asp347Asn)
|
rs2123633860
|
|
NM_001282225.2(ADA2):c.1071C>A (p.Ala357=)
|
rs144447953
|
|
NM_001282225.2(ADA2):c.1097C>T (p.Ser366Phe)
|
rs2123605324
|
|
NM_001282225.2(ADA2):c.1099A>G (p.Ile367Val)
|
|
|
NM_001282225.2(ADA2):c.10G>T (p.Asp4Tyr)
|
rs370257828
|
|
NM_001282225.2(ADA2):c.1111A>T (p.Ile371Phe)
|
rs2061987911
|
|
NM_001282225.2(ADA2):c.1134C>A (p.Asn378Lys)
|
rs763728425
|
|
NM_001282225.2(ADA2):c.1135A>T (p.Thr379Ser)
|
rs561591791
|
|
NM_001282225.2(ADA2):c.1137_1139dup (p.Thr380dup)
|
rs780690814
|
|
NM_001282225.2(ADA2):c.1146C>G (p.Ile382Met)
|
rs776302859
|
|
NM_001282225.2(ADA2):c.115T>A (p.Leu39Met)
|
rs538213260
|
|
NM_001282225.2(ADA2):c.1184G>A (p.Arg395Lys)
|
rs2061986560
|
|
NM_001282225.2(ADA2):c.1190A>C (p.Tyr397Ser)
|
rs2061986476
|
|
NM_001282225.2(ADA2):c.1214T>C (p.Ile405Thr)
|
rs757658203
|
|
NM_001282225.2(ADA2):c.1223G>C (p.Cys408Ser)
|
|
|
NM_001282225.2(ADA2):c.1225C>T (p.Pro409Ser)
|
rs777618863
|
|
NM_001282225.2(ADA2):c.1252G>T (p.Val418Leu)
|
|
|
NM_001282225.2(ADA2):c.1269C>G (p.Asn423Lys)
|
rs1226708979
|
|
NM_001282225.2(ADA2):c.1271A>G (p.His424Arg)
|
|
|
NM_001282225.2(ADA2):c.1283C>T (p.Thr428Ile)
|
rs2123601456
|
|
NM_001282225.2(ADA2):c.1303C>T (p.Pro435Ser)
|
|
|
NM_001282225.2(ADA2):c.1306A>G (p.Met436Val)
|
rs763170250
|
|
NM_001282225.2(ADA2):c.1313_1314delinsAG (p.Ile438Lys)
|
|
|
NM_001282225.2(ADA2):c.133C>G (p.Arg45Gly)
|
rs777683953
|
|
NM_001282225.2(ADA2):c.1348G>A (p.Gly450Ser)
|
rs1206824905
|
|
NM_001282225.2(ADA2):c.1353G>T (p.Leu451Phe)
|
rs2061973897
|
|
NM_001282225.2(ADA2):c.1354T>C (p.Ser452Pro)
|
rs2123600965
|
|
NM_001282225.2(ADA2):c.1373T>C (p.Val458Ala)
|
rs748893301
|
|
NM_001282225.2(ADA2):c.1423C>A (p.Leu475Met)
|
rs138076444
|
|
NM_001282225.2(ADA2):c.143G>C (p.Gly48Ala)
|
rs140149634
|
|
NM_001282225.2(ADA2):c.143G>T (p.Gly48Val)
|
rs140149634
|
|
NM_001282225.2(ADA2):c.1442+3G>A
|
|
|
NM_001282225.2(ADA2):c.1443G>T (p.Lys481Asn)
|
rs774795047
|
|
NM_001282225.2(ADA2):c.1465G>A (p.Glu489Lys)
|
rs45497794
|
|
NM_001282225.2(ADA2):c.1513A>G (p.Ile505Val)
|
|
|
NM_001282225.2(ADA2):c.151G>C (p.Val51Leu)
|
|
|
NM_001282225.2(ADA2):c.171G>C (p.Glu57Asp)
|
|
|
NM_001282225.2(ADA2):c.179A>G (p.Asn60Ser)
|
rs878901507
|
|
NM_001282225.2(ADA2):c.186G>T (p.Arg62Ser)
|
rs1555887378
|
|
NM_001282225.2(ADA2):c.191T>G (p.Met64Arg)
|
|
|
NM_001282225.2(ADA2):c.226A>G (p.Arg76Gly)
|
rs2123715454
|
|
NM_001282225.2(ADA2):c.22G>A (p.Glu8Lys)
|
rs914839065
|
|
NM_001282225.2(ADA2):c.232C>T (p.Leu78=)
|
rs757225675
|
|
NM_001282225.2(ADA2):c.235A>T (p.Ile79Leu)
|
rs2123715420
|
|
NM_001282225.2(ADA2):c.250A>G (p.Met84Val)
|
|
|
NM_001282225.2(ADA2):c.253C>G (p.His85Asp)
|
|
|
NM_001282225.2(ADA2):c.264G>T (p.Gln88His)
|
rs2123715335
|
|
NM_001282225.2(ADA2):c.266C>T (p.Ala89Val)
|
rs548766340
|
|
NM_001282225.2(ADA2):c.26G>A (p.Arg9Gln)
|
rs766367978
|
|
NM_001282225.2(ADA2):c.298A>T (p.Asn100Tyr)
|
|
|
NM_001282225.2(ADA2):c.307A>T (p.Arg103Trp)
|
rs1232757006
|
|
NM_001282225.2(ADA2):c.308G>A (p.Arg103Lys)
|
rs1477354791
|
|
NM_001282225.2(ADA2):c.317C>G (p.Pro106Arg)
|
|
|
NM_001282225.2(ADA2):c.329C>T (p.Ala110Val)
|
|
|
NM_001282225.2(ADA2):c.337C>A (p.Leu113Ile)
|
|
|
NM_001282225.2(ADA2):c.342T>G (p.His114Gln)
|
|
|
NM_001282225.2(ADA2):c.347T>C (p.Ile116Thr)
|
rs2123709522
|
|
NM_001282225.2(ADA2):c.352A>C (p.Ile118Leu)
|
rs2062364807
|
|
NM_001282225.2(ADA2):c.355G>A (p.Val119Met)
|
|
|
NM_001282225.2(ADA2):c.361A>G (p.Met121Val)
|
|
|
NM_001282225.2(ADA2):c.365A>T (p.Asp122Val)
|
|
|
NM_001282225.2(ADA2):c.370C>T (p.Leu124=)
|
rs2123709418
|
|
NM_001282225.2(ADA2):c.397C>G (p.His133Asp)
|
rs2062363420
|
|
NM_001282225.2(ADA2):c.3G>A (p.Met1Ile)
|
rs2062397306
|
|
NM_001282225.2(ADA2):c.410G>C (p.Cys137Ser)
|
rs1019680311
|
|
NM_001282225.2(ADA2):c.415A>G (p.Thr139Ala)
|
|
|
NM_001282225.2(ADA2):c.422G>A (p.Arg141Lys)
|
rs756882787
|
|
NM_001282225.2(ADA2):c.434A>C (p.Gln145Pro)
|
rs1437000359
|
|
NM_001282225.2(ADA2):c.446C>T (p.Ala149Val)
|
|
|
NM_001282225.2(ADA2):c.452C>T (p.Pro151Leu)
|
|
|
NM_001282225.2(ADA2):c.457C>T (p.Pro153Ser)
|
|
|
NM_001282225.2(ADA2):c.466T>C (p.Ser156Pro)
|
|
|
NM_001282225.2(ADA2):c.476G>A (p.Cys159Tyr)
|
rs774636844
|
|
NM_001282225.2(ADA2):c.542+3G>A
|
rs2123708613
|
|
NM_001282225.2(ADA2):c.542+4A>T
|
|
|
NM_001282225.2(ADA2):c.565G>T (p.Val189Leu)
|
|
|
NM_001282225.2(ADA2):c.580G>A (p.Glu194Lys)
|
|
|
NM_001282225.2(ADA2):c.608T>C (p.Val203Ala)
|
rs1340031421
|
|
NM_001282225.2(ADA2):c.612G>T (p.Trp204Cys)
|
rs2062319375
|
|
NM_001282225.2(ADA2):c.626C>A (p.Thr209Asn)
|
rs781131295
|
|
NM_001282225.2(ADA2):c.626C>T (p.Thr209Ile)
|
rs781131295
|
|
NM_001282225.2(ADA2):c.635T>C (p.Phe212Ser)
|
rs1268480139
|
|
NM_001282225.2(ADA2):c.640A>G (p.Ile214Val)
|
|
|
NM_001282225.2(ADA2):c.643T>A (p.Ser215Thr)
|
|
|
NM_001282225.2(ADA2):c.662C>T (p.Ala221Val)
|
rs2062318333
|
|
NM_001282225.2(ADA2):c.667G>C (p.Val223Leu)
|
rs761537217
|
|
NM_001282225.2(ADA2):c.672C>A (p.Phe224Leu)
|
rs2062317999
|
|
NM_001282225.2(ADA2):c.676G>A (p.Asp226Asn)
|
|
|
NM_001282225.2(ADA2):c.695T>C (p.Met232Thr)
|
rs2123699502
|
|
NM_001282225.2(ADA2):c.713A>G (p.Asp238Gly)
|
|
|
NM_001282225.2(ADA2):c.718G>A (p.Val240Met)
|
rs1239054063
|
|
NM_001282225.2(ADA2):c.724T>C (p.Tyr242His)
|
rs1391989452
|
|
NM_001282225.2(ADA2):c.727A>G (p.Met243Val)
|
|
|
NM_001282225.2(ADA2):c.73G>A (p.Gly25Ser)
|
|
|
NM_001282225.2(ADA2):c.73G>T (p.Gly25Cys)
|
|
|
NM_001282225.2(ADA2):c.746T>G (p.Leu249Arg)
|
rs757520466
|
|
NM_001282225.2(ADA2):c.758A>G (p.Tyr253Cys)
|
rs1465951724
|
|
NM_001282225.2(ADA2):c.767G>A (p.Ser256Asn)
|
|
|
NM_001282225.2(ADA2):c.780T>G (p.His260Gln)
|
|
|
NM_001282225.2(ADA2):c.784G>A (p.Glu262Lys)
|
rs551968547
|
|
NM_001282225.2(ADA2):c.79G>A (p.Ala27Thr)
|
rs766768505
|
|
NM_001282225.2(ADA2):c.827T>C (p.Phe276Ser)
|
rs2123651469
|
|
NM_001282225.2(ADA2):c.850A>C (p.Ile284Leu)
|
|
|
NM_001282225.2(ADA2):c.854G>A (p.Gly285Glu)
|
rs2062117251
|
|
NM_001282225.2(ADA2):c.872C>T (p.Ser291Leu)
|
|
|
NM_001282225.2(ADA2):c.874G>A (p.Asp292Asn)
|
rs2123651243
|
|
NM_001282225.2(ADA2):c.882-3C>G
|
rs2062095551
|
|
NM_001282225.2(ADA2):c.884C>T (p.Ser295Phe)
|
|
|
NM_001282225.2(ADA2):c.898G>C (p.Val300Leu)
|
|
|
NM_001282225.2(ADA2):c.904G>A (p.Ala302Thr)
|
|
|
NM_001282225.2(ADA2):c.916C>G (p.Arg306Gly)
|
rs774963498
|
|
NM_001282225.2(ADA2):c.91G>C (p.Asp31His)
|
rs2123716097
|
|
NM_001282225.2(ADA2):c.926T>C (p.Met309Thr)
|
|
|
NM_001282225.2(ADA2):c.935G>C (p.Arg312Pro)
|
rs746970158
|
|
NM_001282225.2(ADA2):c.946C>T (p.Pro316Ser)
|
|
|
NM_001282225.2(ADA2):c.961G>A (p.Gly321Arg)
|
|
|
NM_001282225.2(ADA2):c.962G>A (p.Gly321Glu)
|
rs865858930
|
|
NM_001282225.2(ADA2):c.967G>A (p.Asp323Asn)
|
rs2123643865
|
|
NM_001282225.2(ADA2):c.972+6C>A
|
rs764925030
|
|
NM_001282225.2(ADA2):c.973G>A (p.Val325Met)
|
|
|
NM_001282225.2(ADA2):c.977G>A (p.Gly326Glu)
|
rs760228190
|
|
NM_001282225.2(ADA2):c.980A>C (p.His327Pro)
|
|
|
NM_001282225.2(ADA2):c.980A>G (p.His327Arg)
|
|
|
NM_001282225.2(ADA2):c.989C>G (p.Thr330Ser)
|
rs2062065746
|
|
NM_001282225.2(ADA2):c.98C>T (p.Thr33Ile)
|
|
|
NM_001330360.2(POLA1):c.2018G>A (p.Arg673Gln)
|
|
|
NM_001330360.2(POLA1):c.3806G>T (p.Gly1269Val)
|
|
|
NM_001330360.2(POLA1):c.412A>G (p.Asn138Asp)
|
rs1555973963
|
|
NM_001346413.3(PCF11):c.3618del (p.Phe1206fs)
|
rs864309498
|
|
NM_001353214.3(DYM):c.2170G>A (p.Asp724Asn)
|
rs780336634
|
|
NM_001366385.1(CARD14):c.*165CA[2]
|
rs201730862
|
|
NM_001366385.1(CARD14):c.1154T>G (p.Leu385Arg)
|
rs2144267834
|
|
NM_001366385.1(CARD14):c.1170C>A (p.Phe390Leu)
|
rs74951924
|
|
NM_001366385.1(CARD14):c.1329C>A (p.Ser443Arg)
|
rs763493440
|
|
NM_001366385.1(CARD14):c.1356+8del
|
rs2144281783
|
|
NM_001366385.1(CARD14):c.1590G>C (p.Thr530=)
|
rs138100360
|
|
NM_001366385.1(CARD14):c.1865C>G (p.Ala622Gly)
|
rs2144428625
|
|
NM_001366385.1(CARD14):c.1929C>T (p.Leu643=)
|
rs2144430849
|
|
NM_001366385.1(CARD14):c.1979-4T>C
|
rs2144447186
|
|
NM_001366385.1(CARD14):c.2153C>G (p.Ala718Gly)
|
rs747104642
|
|
NM_001366385.1(CARD14):c.249C>T (p.Asn83=)
|
rs148170776
|
|
NM_001366385.1(CARD14):c.2591A>G (p.Tyr864Cys)
|
rs1196800518
|
|
NM_001366385.1(CARD14):c.2933T>C (p.Leu978Pro)
|
rs2144639860
|
|
NM_001366385.1(CARD14):c.484C>G (p.Leu162Val)
|
rs1180184443
|
|
NM_001366385.1(CARD14):c.827C>G (p.Ser276Trp)
|
rs149318654
|
|
NM_001366385.1(CARD14):c.898G>T (p.Glu300Ter)
|
rs2144249046
|
|
NM_001366385.1(CARD14):c.921G>A (p.Ser307=)
|
rs753922155
|
|
NM_001366385.1(CARD14):c.931C>T (p.Arg311Trp)
|
rs145167842
|
|
NM_001367624.2(ZNF469):c.*1323G>A
|
rs780254370
|
|
NM_001367624.2(ZNF469):c.*1348G>A
|
rs886052428
|
|
NM_001367624.2(ZNF469):c.*491T>C
|
rs557906701
|
|
NM_001367624.2(ZNF469):c.*547G>T
|
rs370886541
|
|
NM_001367624.2(ZNF469):c.*879T>C
|
rs886052426
|
|
NM_001367624.2(ZNF469):c.*932A>G
|
rs886052427
|
|
NM_001367624.2(ZNF469):c.10106G>C (p.Arg3369Pro)
|
|
|
NM_001367624.2(ZNF469):c.10199C>T (p.Pro3400Leu)
|
rs281165933
|
|
NM_001367624.2(ZNF469):c.10325G>T (p.Arg3442Met)
|
rs199528724
|
|
NM_001367624.2(ZNF469):c.10326G>C (p.Arg3442Ser)
|
rs56236932
|
|
NM_001367624.2(ZNF469):c.10331G>T (p.Gly3444Val)
|
rs530393871
|
|
NM_001367624.2(ZNF469):c.10373C>G (p.Ala3458Gly)
|
rs1429918039
|
|
NM_001367624.2(ZNF469):c.10572C>T (p.Pro3524=)
|
rs763317477
|
|
NM_001367624.2(ZNF469):c.10744G>C (p.Ala3582Pro)
|
|
|
NM_001367624.2(ZNF469):c.11016G>T (p.Lys3672Asn)
|
rs967698954
|
|
NM_001367624.2(ZNF469):c.11109G>T (p.Val3703=)
|
rs886052419
|
|
NM_001367624.2(ZNF469):c.11353del (p.Gln3785fs)
|
|
|
NM_001367624.2(ZNF469):c.11536C>G (p.Arg3846Gly)
|
rs886052420
|
|
NM_001367624.2(ZNF469):c.11714C>G (p.Pro3905Arg)
|
rs529322092
|
|
NM_001367624.2(ZNF469):c.11821A>C (p.Thr3941Pro)
|
rs1555520642
|
|
NM_001367624.2(ZNF469):c.11822C>T (p.Thr3941Ile)
|
rs766057875
|
|
NM_001367624.2(ZNF469):c.142G>A (p.Ala48Thr)
|
rs886052388
|
|
NM_001367624.2(ZNF469):c.1528G>A (p.Gly510Ser)
|
rs755555951
|
|
NM_001367624.2(ZNF469):c.1829C>T (p.Pro610Leu)
|
|
|
NM_001367624.2(ZNF469):c.1932G>C (p.Thr644=)
|
rs539996728
|
|
NM_001367624.2(ZNF469):c.1982A>G (p.Tyr661Cys)
|
rs886052394
|
|
NM_001367624.2(ZNF469):c.2132C>G (p.Pro711Arg)
|
rs571184307
|
|
NM_001367624.2(ZNF469):c.2150del (p.Phe717fs)
|
|
|
NM_001367624.2(ZNF469):c.2569A>G (p.Asn857Asp)
|
rs1555518955
|
|
NM_001367624.2(ZNF469):c.2810A>T (p.Asp937Val)
|
rs550198026
|
|
NM_001367624.2(ZNF469):c.2908GGC[2] (p.Gly972_Gly973del)
|
rs775423936
|
|
NM_001367624.2(ZNF469):c.2914G>A (p.Gly972Ser)
|
|
|
NM_001367624.2(ZNF469):c.2929G>C (p.Gly977Arg)
|
rs770061832
|
|
NM_001367624.2(ZNF469):c.2948ACG[1] (p.Asp984del)
|
rs886052397
|
|
NM_001367624.2(ZNF469):c.2986C>A (p.Arg996Ser)
|
rs886052400
|
|
NM_001367624.2(ZNF469):c.310G>A (p.Ala104Thr)
|
|
|
NM_001367624.2(ZNF469):c.3255G>C (p.Glu1085Asp)
|
rs886052401
|
|
NM_001367624.2(ZNF469):c.3611A>G (p.Gln1204Arg)
|
rs1597208940
|
|
NM_001367624.2(ZNF469):c.3776G>A (p.Ser1259Asn)
|
rs886052403
|
|
NM_001367624.2(ZNF469):c.4195C>T (p.His1399Tyr)
|
rs886052404
|
|
NM_001367624.2(ZNF469):c.4435G>C (p.Gly1479Arg)
|
|
|
NM_001367624.2(ZNF469):c.4447G>A (p.Ala1483Thr)
|
rs273585620
|
|
NM_001367624.2(ZNF469):c.4529TGC[1] (p.Leu1511del)
|
rs555544144
|
|
NM_001367624.2(ZNF469):c.5150C>G (p.Pro1717Arg)
|
rs544832628
|
|
NM_001367624.2(ZNF469):c.5340C>G (p.Pro1780=)
|
rs184374078
|
|
NM_001367624.2(ZNF469):c.5488G>T (p.Ala1830Ser)
|
rs778548266
|
|
NM_001367624.2(ZNF469):c.5789A>G (p.Gln1930Arg)
|
rs2142308428
|
|
NM_001367624.2(ZNF469):c.5862C>G (p.Pro1954=)
|
rs201666199
|
|
NM_001367624.2(ZNF469):c.5912C>T (p.Ala1971Val)
|
rs886052406
|
|
NM_001367624.2(ZNF469):c.6029G>A (p.Gly2010Glu)
|
rs886052407
|
|
NM_001367624.2(ZNF469):c.6978CTC[1] (p.Ser2328del)
|
rs1215843229
|
|
NM_001367624.2(ZNF469):c.699C>T (p.Asp233=)
|
rs886052391
|
|
NM_001367624.2(ZNF469):c.725_726delinsTT (p.Ser242Ile)
|
rs886043704
|
|
NM_001367624.2(ZNF469):c.765_770dup (p.254EP[3])
|
rs1905840452
|
|
NM_001367624.2(ZNF469):c.8003T>C (p.Met2668Thr)
|
rs886052411
|
|
NM_001367624.2(ZNF469):c.8112G>C (p.Glu2704Asp)
|
rs773262065
|
|
NM_001367624.2(ZNF469):c.8438C>A (p.Thr2813Asn)
|
rs985304000
|
|
NM_001367624.2(ZNF469):c.8642G>A (p.Arg2881His)
|
rs142753357
|
|
NM_001367624.2(ZNF469):c.8642G>T (p.Arg2881Leu)
|
rs142753357
|
|
NM_001367624.2(ZNF469):c.8974A>C (p.Met2992Leu)
|
rs886052414
|
|
NM_001367624.2(ZNF469):c.9024C>T (p.Asp3008=)
|
rs886052415
|
|
NM_001367624.2(ZNF469):c.9368G>A (p.Arg3123His)
|
rs536601676
|
|
NM_001367624.2(ZNF469):c.9473T>C (p.Leu3158Pro)
|
rs1906626370
|
|
NM_001367624.2(ZNF469):c.9923C>A (p.Thr3308Asn)
|
rs1285839120
|
|
NM_001370466.1(NOD2):c.*325G>A
|
rs886052046
|
|
NM_001370466.1(NOD2):c.*329_*334dup
|
rs886052047
|
|
NM_001370466.1(NOD2):c.*422C>G
|
rs886052049
|
|
NM_001370466.1(NOD2):c.*64G>C
|
rs1053712094
|
|
NM_001370466.1(NOD2):c.-8-1G>C
|
|
|
NM_001370466.1(NOD2):c.-8-2166A>G
|
|
|
NM_001370466.1(NOD2):c.-8-2173G>A
|
|
|
NM_001370466.1(NOD2):c.-8-2184G>A
|
rs771671839
|
|
NM_001370466.1(NOD2):c.-8-2184G>T
|
|
|
NM_001370466.1(NOD2):c.-8-2193G>A
|
rs886052043
|
|
NM_001370466.1(NOD2):c.-8-2202A>G
|
rs1963694151
|
|
NM_001370466.1(NOD2):c.-8-2202_-8-2194dup
|
rs2150776605
|
|
NM_001370466.1(NOD2):c.-8-2208G>A
|
rs2150776587
|
|
NM_001370466.1(NOD2):c.-8-2213A>T
|
|
|
NM_001370466.1(NOD2):c.-8-2214G>A
|
|
|
NM_001370466.1(NOD2):c.-8-2219C>T
|
|
|
NM_001370466.1(NOD2):c.-8-2242G>A
|
rs2150776459
|
|
NM_001370466.1(NOD2):c.-8-2532G>T
|
|
|
NM_001370466.1(NOD2):c.-8G>C
|
|
|
NM_001370466.1(NOD2):c.1022T>C (p.Leu341Pro)
|
rs1964452487
|
|
NM_001370466.1(NOD2):c.1057G>A (p.Gly353Ser)
|
|
|
NM_001370466.1(NOD2):c.1058G>A (p.Gly353Asp)
|
rs1964456255
|
|
NM_001370466.1(NOD2):c.1066G>T (p.Glu356Ter)
|
|
|
NM_001370466.1(NOD2):c.107G>A (p.Trp36Ter)
|
|
|
NM_001370466.1(NOD2):c.1088A>G (p.Asp363Gly)
|
rs769622495
|
|
NM_001370466.1(NOD2):c.1093G>A (p.Glu365Lys)
|
|
|
NM_001370466.1(NOD2):c.1102T>A (p.Cys368Ser)
|
|
|
NM_001370466.1(NOD2):c.1112C>A (p.Thr371Asn)
|
|
|
NM_001370466.1(NOD2):c.1112C>T (p.Thr371Ile)
|
rs1964461594
|
|
NM_001370466.1(NOD2):c.1114G>A (p.Asp372Asn)
|
|
|
NM_001370466.1(NOD2):c.1121C>A (p.Thr374Asn)
|
|
|
NM_001370466.1(NOD2):c.113T>C (p.Val38Ala)
|
|
|
NM_001370466.1(NOD2):c.113_127dup (p.Glu42_Asp43insValLeuSerTrpGlu)
|
|
|
NM_001370466.1(NOD2):c.1141T>G (p.Phe381Val)
|
|
|
NM_001370466.1(NOD2):c.1160A>G (p.Asn387Ser)
|
rs104895429
|
|
NM_001370466.1(NOD2):c.1167G>A (p.Leu389=)
|
rs2150809554
|
|
NM_001370466.1(NOD2):c.1174G>A (p.Ala392Thr)
|
|
|
NM_001370466.1(NOD2):c.1175C>T (p.Ala392Val)
|
|
|
NM_001370466.1(NOD2):c.1184T>G (p.Val395Gly)
|
|
|
NM_001370466.1(NOD2):c.1188G>A (p.Val396=)
|
rs77966199
|
|
NM_001370466.1(NOD2):c.1190C>A (p.Thr397Asn)
|
rs1596864349
|
|
NM_001370466.1(NOD2):c.1201G>A (p.Ala401Thr)
|
rs1964470443
|
|
NM_001370466.1(NOD2):c.1204G>A (p.Ala402Thr)
|
|
|
NM_001370466.1(NOD2):c.1217T>C (p.Phe406Ser)
|
rs2150809796
|
|
NM_001370466.1(NOD2):c.1227G>T (p.Lys409Asn)
|
|
|
NM_001370466.1(NOD2):c.1247A>G (p.Asn416Ser)
|
|
|
NM_001370466.1(NOD2):c.1253del (p.Lys418fs)
|
|
|
NM_001370466.1(NOD2):c.1271G>A (p.Gly424Asp)
|
rs1249578378
|
|
NM_001370466.1(NOD2):c.1295G>A (p.Arg432His)
|
|
|
NM_001370466.1(NOD2):c.1309G>A (p.Gly437Arg)
|
|
|
NM_001370466.1(NOD2):c.1309G>T (p.Gly437Trp)
|
rs104895492
|
|
NM_001370466.1(NOD2):c.1321C>A (p.Arg441Ser)
|
rs769988393
|
|
NM_001370466.1(NOD2):c.1331G>A (p.Arg444His)
|
|
|
NM_001370466.1(NOD2):c.1331G>T (p.Arg444Leu)
|
rs764414933
|
|
NM_001370466.1(NOD2):c.1339C>A (p.Gln447Lys)
|
|
|
NM_001370466.1(NOD2):c.1344G>C (p.Glu448Asp)
|
rs1964484718
|
|
NM_001370466.1(NOD2):c.1346C>A (p.Thr449Asn)
|
rs1567392113
|
|
NM_001370466.1(NOD2):c.1349C>G (p.Ser450Ter)
|
|
|
NM_001370466.1(NOD2):c.1352C>T (p.Ala451Val)
|
rs2150810483
|
|
NM_001370466.1(NOD2):c.1360G>A (p.Gly454Ser)
|
|
|
NM_001370466.1(NOD2):c.1367G>A (p.Cys456Tyr)
|
|
|
NM_001370466.1(NOD2):c.1379T>A (p.Val460Asp)
|
rs1964489081
|
|
NM_001370466.1(NOD2):c.1382T>C (p.Phe461Ser)
|
|
|
NM_001370466.1(NOD2):c.1397C>T (p.Ser466Phe)
|
|
|
NM_001370466.1(NOD2):c.139T>C (p.Phe47Leu)
|
|
|
NM_001370466.1(NOD2):c.1402T>G (p.Cys468Gly)
|
rs2150810748
|
|
NM_001370466.1(NOD2):c.1406A>G (p.His469Arg)
|
rs104895472
|
|
NM_001370466.1(NOD2):c.1411G>A (p.Glu471Lys)
|
|
|
NM_001370466.1(NOD2):c.1418T>A (p.Leu473Ter)
|
rs1964491198
|
|
NM_001370466.1(NOD2):c.1429G>A (p.Gly477Arg)
|
|
|
NM_001370466.1(NOD2):c.1429G>T (p.Gly477Trp)
|
|
|
NM_001370466.1(NOD2):c.1430G>A (p.Gly477Glu)
|
|
|
NM_001370466.1(NOD2):c.1434del (p.Ser479fs)
|
rs754761524
|
|
NM_001370466.1(NOD2):c.1434dup (p.Ser479fs)
|
rs754761524
|
|
NM_001370466.1(NOD2):c.1441A>G (p.Lys481Glu)
|
|
|
NM_001370466.1(NOD2):c.1445C>A (p.Thr482Asn)
|
rs773580517
|
|
NM_001370466.1(NOD2):c.1445C>G (p.Thr482Ser)
|
|
|
NM_001370466.1(NOD2):c.1462C>T (p.Leu488=)
|
rs1318205250
|
|
NM_001370466.1(NOD2):c.1474C>T (p.Gln492Ter)
|
rs1964496675
|
|
NM_001370466.1(NOD2):c.1499C>A (p.Pro500His)
|
|
|
NM_001370466.1(NOD2):c.1501C>G (p.Pro501Ala)
|
|
|
NM_001370466.1(NOD2):c.1502C>A (p.Pro501Gln)
|
rs773811702
|
|
NM_001370466.1(NOD2):c.1502dup (p.Asp502fs)
|
rs754073471
|
|
NM_001370466.1(NOD2):c.1510G>T (p.Ala504Ser)
|
rs1328584012
|
|
NM_001370466.1(NOD2):c.1516C>T (p.Gln506Ter)
|
|
|
NM_001370466.1(NOD2):c.1520G>A (p.Gly507Asp)
|
|
|
NM_001370466.1(NOD2):c.1529C>A (p.Pro510His)
|
rs1567392735
|
|
NM_001370466.1(NOD2):c.1529C>T (p.Pro510Leu)
|
rs1567392735
|
|
NM_001370466.1(NOD2):c.1547G>A (p.Arg516His)
|
rs772534917
|
|
NM_001370466.1(NOD2):c.154C>T (p.Gln52Ter)
|
|
|
NM_001370466.1(NOD2):c.1559T>A (p.Leu520His)
|
|
|
NM_001370466.1(NOD2):c.1559T>C (p.Leu520Pro)
|
rs762186831
|
|
NM_001370466.1(NOD2):c.1564C>A (p.His522Asn)
|
rs1964506383
|
|
NM_001370466.1(NOD2):c.1567C>G (p.Leu523Val)
|
rs104895471
|
|
NM_001370466.1(NOD2):c.1579del (p.Ala527fs)
|
rs2150811580
|
|
NM_001370466.1(NOD2):c.157C>A (p.Pro53Thr)
|
|
|
NM_001370466.1(NOD2):c.1589G>T (p.Gly530Val)
|
|
|
NM_001370466.1(NOD2):c.1591_1596del (p.Leu531_Gly532del)
|
rs104895436
|
|
NM_001370466.1(NOD2):c.1605C>T (p.Cys535=)
|
rs2150811696
|
|
NM_001370466.1(NOD2):c.1616C>T (p.Ser539Leu)
|
rs908511039
|
|
NM_001370466.1(NOD2):c.162C>T (p.Leu54=)
|
rs1963835517
|
|
NM_001370466.1(NOD2):c.1639C>G (p.Gln547Glu)
|
rs1264862631
|
|
NM_001370466.1(NOD2):c.1648C>T (p.Pro550Ser)
|
|
|
NM_001370466.1(NOD2):c.1663C>G (p.Leu555Val)
|
|
|
NM_001370466.1(NOD2):c.1675G>T (p.Val559Leu)
|
|
|
NM_001370466.1(NOD2):c.1708G>A (p.Ala570Thr)
|
|
|
NM_001370466.1(NOD2):c.1723C>T (p.Leu575Phe)
|
rs1964520847
|
|
NM_001370466.1(NOD2):c.1729A>G (p.Ile577Val)
|
|
|
NM_001370466.1(NOD2):c.1753G>A (p.Ala585Thr)
|
rs104895438
|
|
NM_001370466.1(NOD2):c.175A>G (p.Arg59Gly)
|
|
|
NM_001370466.1(NOD2):c.1766C>T (p.Ala589Val)
|
|
|
NM_001370466.1(NOD2):c.176G>A (p.Arg59Lys)
|
|
|
NM_001370466.1(NOD2):c.1775C>T (p.Ala592Val)
|
rs867131858
|
|
NM_001370466.1(NOD2):c.1822C>T (p.Pro608Ser)
|
|
|
NM_001370466.1(NOD2):c.1828_1846del (p.Asn610fs)
|
rs745991254
|
|
NM_001370466.1(NOD2):c.1843A>G (p.Arg615Gly)
|
rs1964529815
|
|
NM_001370466.1(NOD2):c.1846C>T (p.Leu616Phe)
|
|
|
NM_001370466.1(NOD2):c.1851_1852delinsAA (p.Pro618Thr)
|
|
|
NM_001370466.1(NOD2):c.1852C>A (p.Pro618Thr)
|
rs1228502653
|
|
NM_001370466.1(NOD2):c.1856C>T (p.Thr619Met)
|
|
|
NM_001370466.1(NOD2):c.185T>C (p.Leu62Pro)
|
|
|
NM_001370466.1(NOD2):c.1863C>G (p.Cys621Trp)
|
|
|
NM_001370466.1(NOD2):c.1864A>C (p.Ile622Leu)
|
rs1484221771
|
|
NM_001370466.1(NOD2):c.186G>A (p.Leu62=)
|
rs1963838182
|
|
NM_001370466.1(NOD2):c.1874C>T (p.Ser625Leu)
|
|
|
NM_001370466.1(NOD2):c.1886A>T (p.Asp629Val)
|
rs2150812781
|
|
NM_001370466.1(NOD2):c.1891A>G (p.Ser631Gly)
|
|
|
NM_001370466.1(NOD2):c.1915G>A (p.Ala639Thr)
|
|
|
NM_001370466.1(NOD2):c.1929C>G (p.Asn643Lys)
|
rs104895475
|
|
NM_001370466.1(NOD2):c.1938C>G (p.Ile646Met)
|
|
|
NM_001370466.1(NOD2):c.1939A>G (p.Thr647Ala)
|
|
|
NM_001370466.1(NOD2):c.193G>T (p.Val65Phe)
|
rs187264529
|
|
NM_001370466.1(NOD2):c.1949T>C (p.Phe650Ser)
|
rs2150813115
|
|
NM_001370466.1(NOD2):c.1976A>C (p.His659Pro)
|
|
|
NM_001370466.1(NOD2):c.2026C>G (p.Arg676Gly)
|
rs5743277
|
|
NM_001370466.1(NOD2):c.2027G>T (p.Arg676Leu)
|
|
|
NM_001370466.1(NOD2):c.202A>G (p.Lys68Glu)
|
rs2150781997
|
|
NM_001370466.1(NOD2):c.2032G>T (p.Ala678Ser)
|
|
|
NM_001370466.1(NOD2):c.2041C>T (p.Arg681Cys)
|
|
|
NM_001370466.1(NOD2):c.2042G>C (p.Arg681Pro)
|
|
|
NM_001370466.1(NOD2):c.2042G>T (p.Arg681Leu)
|
rs35285618
|
|
NM_001370466.1(NOD2):c.2066G>T (p.Arg689Leu)
|
|
|
NM_001370466.1(NOD2):c.2079C>A (p.His693Gln)
|
|
|
NM_001370466.1(NOD2):c.208A>G (p.Thr70Ala)
|
|
|
NM_001370466.1(NOD2):c.2096C>T (p.Ala699Val)
|
|
|
NM_001370466.1(NOD2):c.2098C>T (p.Pro700Ser)
|
rs1338599093
|
|
NM_001370466.1(NOD2):c.2099C>A (p.Pro700Gln)
|
|
|
NM_001370466.1(NOD2):c.2101G>A (p.Gly701Ser)
|
rs1964553940
|
|
NM_001370466.1(NOD2):c.2106G>T (p.Glu702Asp)
|
|
|
NM_001370466.1(NOD2):c.2114G>A (p.Ser705Asn)
|
|
|
NM_001370466.1(NOD2):c.2115C>A (p.Ser705Arg)
|
|
|
NM_001370466.1(NOD2):c.2119C>T (p.His707Tyr)
|
|
|
NM_001370466.1(NOD2):c.2123C>T (p.Ala708Val)
|
|
|
NM_001370466.1(NOD2):c.2137A>G (p.Ile713Val)
|
|
|
NM_001370466.1(NOD2):c.2156T>C (p.Leu719Pro)
|
|
|
NM_001370466.1(NOD2):c.2158T>C (p.Tyr720His)
|
rs2150814130
|
|
NM_001370466.1(NOD2):c.2163G>C (p.Glu721Asp)
|
|
|
NM_001370466.1(NOD2):c.2171A>G (p.Glu724Gly)
|
rs1964561689
|
|
NM_001370466.1(NOD2):c.2186G>T (p.Arg729Leu)
|
rs375713299
|
|
NM_001370466.1(NOD2):c.2226G>C (p.Leu742Phe)
|
rs1266638330
|
|
NM_001370466.1(NOD2):c.2230T>A (p.Phe744Ile)
|
|
|
NM_001370466.1(NOD2):c.2237G>A (p.Ser746Asn)
|
|
|
NM_001370466.1(NOD2):c.2243G>A (p.Gly748Asp)
|
|
|
NM_001370466.1(NOD2):c.2245C>T (p.Pro749Ser)
|
rs1264795843
|
|
NM_001370466.1(NOD2):c.2249C>A (p.Thr750Asn)
|
rs756184386
|
|
NM_001370466.1(NOD2):c.2253G>C (p.Glu751Asp)
|
|
|
NM_001370466.1(NOD2):c.2261C>T (p.Ala754Val)
|
|
|
NM_001370466.1(NOD2):c.2267C>G (p.Ala756Gly)
|
|
|
NM_001370466.1(NOD2):c.2276T>G (p.Leu759Arg)
|
rs2150814646
|
|
NM_001370466.1(NOD2):c.2294C>G (p.Pro765Arg)
|
rs1964571054
|
|
NM_001370466.1(NOD2):c.2297T>G (p.Val766Gly)
|
rs1200152449
|
|
NM_001370466.1(NOD2):c.2314T>C (p.Tyr772His)
|
|
|
NM_001370466.1(NOD2):c.2323G>A (p.Val775Met)
|
rs1964574298
|
|
NM_001370466.1(NOD2):c.2336G>T (p.Gly779Val)
|
rs2150814954
|
|
NM_001370466.1(NOD2):c.2337C>T (p.Gly779=)
|
rs199475916
|
|
NM_001370466.1(NOD2):c.2363G>T (p.Gly788Val)
|
rs1964577394
|
|
NM_001370466.1(NOD2):c.2369G>A (p.Cys790Tyr)
|
|
|
NM_001370466.1(NOD2):c.2382-14T>G
|
rs2150823709
|
|
NM_001370466.1(NOD2):c.238_239delinsAG (p.Ala80Ser)
|
|
|
NM_001370466.1(NOD2):c.2413A>G (p.Ile805Val)
|
rs765335094
|
|
NM_001370466.1(NOD2):c.2414T>C (p.Ile805Thr)
|
rs2150823869
|
|
NM_001370466.1(NOD2):c.2418C>T (p.Cys806=)
|
|
|
NM_001370466.1(NOD2):c.2419A>C (p.Lys807Gln)
|
rs1964807205
|
|
NM_001370466.1(NOD2):c.241C>T (p.Gln81Ter)
|
|
|
NM_001370466.1(NOD2):c.2458_2460del (p.Lys820del)
|
rs2150823997
|
|
NM_001370466.1(NOD2):c.2466-12G>A
|
rs2150824449
|
|
NM_001370466.1(NOD2):c.2466-8C>G
|
rs1178978578
|
|
NM_001370466.1(NOD2):c.2485A>C (p.Thr829Pro)
|
|
|
NM_001370466.1(NOD2):c.2491G>A (p.Gly831Ser)
|
|
|
NM_001370466.1(NOD2):c.2495G>A (p.Cys832Tyr)
|
|
|
NM_001370466.1(NOD2):c.2495dup (p.Cys832fs)
|
rs1555500626
|
|
NM_001370466.1(NOD2):c.2501A>C (p.His834Pro)
|
rs763542516
|
|
NM_001370466.1(NOD2):c.2509G>C (p.Ala837Pro)
|
|
|
NM_001370466.1(NOD2):c.2515C>G (p.Leu839Val)
|
rs1000799073
|
|
NM_001370466.1(NOD2):c.2518C>T (p.Leu840Phe)
|
|
|
NM_001370466.1(NOD2):c.2521G>A (p.Ala841Thr)
|
|
|
NM_001370466.1(NOD2):c.2525G>T (p.Cys842Phe)
|
rs749157324
|
|
NM_001370466.1(NOD2):c.2548A>G (p.Arg850Gly)
|
|
|
NM_001370466.1(NOD2):c.2551C>T (p.Leu851=)
|
rs886052044
|
|
NM_001370466.1(NOD2):c.2557A>T (p.Asn853Tyr)
|
|
|
NM_001370466.1(NOD2):c.2567T>C (p.Ile856Thr)
|
|
|
NM_001370466.1(NOD2):c.2585A>C (p.Gln862Pro)
|
|
|
NM_001370466.1(NOD2):c.2590C>G (p.Leu864Val)
|
|
|
NM_001370466.1(NOD2):c.2595C>T (p.Ala865=)
|
rs375012324
|
|
NM_001370466.1(NOD2):c.2606G>A (p.Arg869Gln)
|
|
|
NM_001370466.1(NOD2):c.2610C>T (p.Gly870=)
|
|
|
NM_001370466.1(NOD2):c.2624A>G (p.Gln875Arg)
|
|
|
NM_001370466.1(NOD2):c.2625G>T (p.Gln875His)
|
rs200428513
|
|
NM_001370466.1(NOD2):c.262C>T (p.Gln88Ter)
|
rs2150782258
|
|
NM_001370466.1(NOD2):c.2633+3A>C
|
rs767535551
|
|
NM_001370466.1(NOD2):c.2641G>C (p.Gly881Arg)
|
rs2066845
|
|
NM_001370466.1(NOD2):c.2641G>T (p.Gly881Cys)
|
rs2066845
|
|
NM_001370466.1(NOD2):c.2647A>G (p.Arg883Gly)
|
|
|
NM_001370466.1(NOD2):c.2648G>C (p.Arg883Thr)
|
rs1354091032
|
|
NM_001370466.1(NOD2):c.2665G>A (p.Ala889Thr)
|
|
|
NM_001370466.1(NOD2):c.2671G>T (p.Ala891Ser)
|
rs769395722
|
|
NM_001370466.1(NOD2):c.2677G>T (p.Ala893Ser)
|
|
|
NM_001370466.1(NOD2):c.2689G>A (p.Gly897Ser)
|
rs2150833269
|
|
NM_001370466.1(NOD2):c.2697C>G (p.His899Gln)
|
rs1242042498
|
|
NM_001370466.1(NOD2):c.2718-1G>T
|
rs576834532
|
|
NM_001370466.1(NOD2):c.2726G>A (p.Gly909Glu)
|
rs542558237
|
|
NM_001370466.1(NOD2):c.2737G>A (p.Gly913Ser)
|
|
|
NM_001370466.1(NOD2):c.2752C>T (p.Gln918Ter)
|
rs1394622344
|
|
NM_001370466.1(NOD2):c.2769G>T (p.Met923Ile)
|
|
|
NM_001370466.1(NOD2):c.2807A>G (p.Glu936Gly)
|
rs1555501675
|
|
NM_001370466.1(NOD2):c.2831G>A (p.Gly944Asp)
|
rs1187029221
|
|
NM_001370466.1(NOD2):c.2831G>C (p.Gly944Ala)
|
|
|
NM_001370466.1(NOD2):c.2833G>A (p.Val945Ile)
|
rs104895455
|
|
NM_001370466.1(NOD2):c.2835A>G (p.Val945=)
|
rs756968128
|
|
NM_001370466.1(NOD2):c.2837G>A (p.Cys946Tyr)
|
|
|
NM_001370466.1(NOD2):c.2839T>C (p.Ser947Pro)
|
rs1965233783
|
|
NM_001370466.1(NOD2):c.2840C>G (p.Ser947Cys)
|
|
|
NM_001370466.1(NOD2):c.2842C>G (p.Leu948Val)
|
rs1337759230
|
|
NM_001370466.1(NOD2):c.2878A>T (p.Ile960Phe)
|
rs2150836993
|
|
NM_001370466.1(NOD2):c.2885+12A>G
|
rs751255487
|
|
NM_001370466.1(NOD2):c.2886G>A (p.Lys962=)
|
rs1965389837
|
|
NM_001370466.1(NOD2):c.2906C>T (p.Thr969Ile)
|
rs1567407613
|
|
NM_001370466.1(NOD2):c.2915G>C (p.Gly972Ala)
|
rs1238071864
|
|
NM_001370466.1(NOD2):c.2917del (p.Ala973fs)
|
|
|
NM_001370466.1(NOD2):c.292C>T (p.Pro98Ser)
|
rs1963848568
|
|
NM_001370466.1(NOD2):c.2944A>G (p.Arg982Gly)
|
rs771490210
|
|
NM_001370466.1(NOD2):c.2948A>G (p.Asn983Ser)
|
|
|
NM_001370466.1(NOD2):c.2957T>C (p.Ile986Thr)
|
rs2150843373
|
|
NM_001370466.1(NOD2):c.295C>A (p.His99Asn)
|
|
|
NM_001370466.1(NOD2):c.2974C>G (p.Arg992Gly)
|
rs104895491
|
|
NM_001370466.1(NOD2):c.2975G>A (p.Arg992Gln)
|
rs5743295
|
|
NM_001370466.1(NOD2):c.2975G>T (p.Arg992Leu)
|
rs5743295
|
|
NM_001370466.1(NOD2):c.29A>G (p.Gln10Arg)
|
|
|
NM_001370466.1(NOD2):c.3001G>A (p.Val1001Ile)
|
rs1340958111
|
|
NM_001370466.1(NOD2):c.3002T>C (p.Val1001Ala)
|
|
|
NM_001370466.1(NOD2):c.3022G>A (p.Asp1008Asn)
|
rs2150846563
|
|
NM_001370466.1(NOD2):c.3036G>T (p.Leu1012Phe)
|
|
|
NM_001370466.1(NOD2):c.3037C>A (p.Leu1013Ile)
|
|
|
NM_001370466.1(NOD2):c.31A>G (p.Arg11Gly)
|
rs903928432
|
|
NM_001370466.1(NOD2):c.325_326del (p.His110fs)
|
rs1567381106
|
|
NM_001370466.1(NOD2):c.35G>A (p.Ser12Asn)
|
rs1567380395
|
|
NM_001370466.1(NOD2):c.373A>G (p.Met125Val)
|
rs2150782623
|
|
NM_001370466.1(NOD2):c.375G>T (p.Met125Ile)
|
|
|
NM_001370466.1(NOD2):c.376_377insA (p.Leu126fs)
|
|
|
NM_001370466.1(NOD2):c.383T>G (p.Leu128Arg)
|
rs148753593
|
|
NM_001370466.1(NOD2):c.397G>A (p.Gly133Ser)
|
|
|
NM_001370466.1(NOD2):c.40C>G (p.Leu14Val)
|
rs761191478
|
|
NM_001370466.1(NOD2):c.418T>G (p.Cys140Gly)
|
|
|
NM_001370466.1(NOD2):c.425A>G (p.Glu142Gly)
|
|
|
NM_001370466.1(NOD2):c.43G>C (p.Val15Leu)
|
rs1963826129
|
|
NM_001370466.1(NOD2):c.448C>G (p.Pro150Ala)
|
rs1356803976
|
|
NM_001370466.1(NOD2):c.452_453delinsTG (p.Ser151Leu)
|
|
|
NM_001370466.1(NOD2):c.458G>A (p.Arg153Lys)
|
rs1259750235
|
|
NM_001370466.1(NOD2):c.459+1G>A
|
rs1425704084
|
|
NM_001370466.1(NOD2):c.459+3G>T
|
rs1384904015
|
|
NM_001370466.1(NOD2):c.476A>G (p.Asp159Gly)
|
|
|
NM_001370466.1(NOD2):c.497A>G (p.Asn166Ser)
|
rs1964272038
|
|
NM_001370466.1(NOD2):c.509C>T (p.Ala170Val)
|
|
|
NM_001370466.1(NOD2):c.526G>A (p.Val176Ile)
|
rs369764782
|
|
NM_001370466.1(NOD2):c.529C>T (p.Gln177Ter)
|
|
|
NM_001370466.1(NOD2):c.545C>A (p.Pro182Gln)
|
|
|
NM_001370466.1(NOD2):c.550G>T (p.Ala184Ser)
|
rs771887760
|
|
NM_001370466.1(NOD2):c.572C>T (p.Thr191Ile)
|
rs1964416023
|
|
NM_001370466.1(NOD2):c.578A>G (p.Lys193Arg)
|
|
|
NM_001370466.1(NOD2):c.62G>C (p.Gly21Ala)
|
rs758548184
|
|
NM_001370466.1(NOD2):c.631A>T (p.Ser211Cys)
|
rs1001861018
|
|
NM_001370466.1(NOD2):c.649G>A (p.Glu217Lys)
|
rs1964420065
|
|
NM_001370466.1(NOD2):c.664G>A (p.Glu222Lys)
|
|
|
NM_001370466.1(NOD2):c.667G>A (p.Asp223Asn)
|
|
|
NM_001370466.1(NOD2):c.670A>G (p.Ile224Val)
|
|
|
NM_001370466.1(NOD2):c.676A>G (p.Thr226Ala)
|
|
|
NM_001370466.1(NOD2):c.695T>G (p.Val232Gly)
|
|
|
NM_001370466.1(NOD2):c.699G>C (p.Trp233Cys)
|
|
|
NM_001370466.1(NOD2):c.706G>A (p.Val236Met)
|
rs756042160
|
|
NM_001370466.1(NOD2):c.70G>T (p.Glu24Ter)
|
|
|
NM_001370466.1(NOD2):c.712A>T (p.Met238Leu)
|
rs1964425967
|
|
NM_001370466.1(NOD2):c.715del (p.Ala239fs)
|
rs772914954
|
|
NM_001370466.1(NOD2):c.721C>G (p.Pro241Ala)
|
|
|
NM_001370466.1(NOD2):c.722C>T (p.Pro241Leu)
|
rs1964426730
|
|
NM_001370466.1(NOD2):c.725C>T (p.Pro242Leu)
|
|
|
NM_001370466.1(NOD2):c.745C>G (p.Leu249Val)
|
|
|
NM_001370466.1(NOD2):c.758A>G (p.Glu253Gly)
|
|
|
NM_001370466.1(NOD2):c.77T>C (p.Phe26Ser)
|
|
|
NM_001370466.1(NOD2):c.781del (p.Leu261fs)
|
rs1964431434
|
|
NM_001370466.1(NOD2):c.782T>C (p.Leu261Pro)
|
|
|
NM_001370466.1(NOD2):c.788A>T (p.Asp263Val)
|
rs2150807904
|
|
NM_001370466.1(NOD2):c.794C>A (p.Ala265Glu)
|
rs149338478
|
|
NM_001370466.1(NOD2):c.79G>A (p.Glu27Lys)
|
|
|
NM_001370466.1(NOD2):c.802G>A (p.Val268Met)
|
|
|
NM_001370466.1(NOD2):c.809dup (p.Val271fs)
|
|
|
NM_001370466.1(NOD2):c.817G>T (p.Glu273Ter)
|
|
|
NM_001370466.1(NOD2):c.824del (p.Gly275fs)
|
rs2150808087
|
|
NM_001370466.1(NOD2):c.856C>T (p.His286Tyr)
|
rs1462834850
|
|
NM_001370466.1(NOD2):c.868dup (p.Ala290fs)
|
rs2150808264
|
|
NM_001370466.1(NOD2):c.873A>C (p.Ala291=)
|
rs199951979
|
|
NM_001370466.1(NOD2):c.878A>G (p.Gln293Arg)
|
|
|
NM_001370466.1(NOD2):c.899_900del (p.Phe300fs)
|
|
|
NM_001370466.1(NOD2):c.8C>G (p.Ser3Trp)
|
rs768775316
|
|
NM_001370466.1(NOD2):c.8C>T (p.Ser3Leu)
|
rs768775316
|
|
NM_001370466.1(NOD2):c.920G>C (p.Arg307Pro)
|
|
|
NM_001370466.1(NOD2):c.938C>G (p.Ala313Gly)
|
rs774016655
|
|
NM_001370466.1(NOD2):c.953T>C (p.Val318Ala)
|
|
|
NM_001370466.1(NOD2):c.963A>G (p.Leu321=)
|
rs2150808670
|
|
NM_001370466.1(NOD2):c.973C>T (p.His325Tyr)
|
|
|
NM_001370466.1(NOD2):c.979T>C (p.Cys327Arg)
|
|
|
NM_001370466.1(NOD2):c.989A>G (p.Asp330Gly)
|
rs104895469
|
|
NM_001370466.1(NOD2):c.992T>G (p.Val331Gly)
|
rs2150808820
|
|
NM_001370466.1(NOD2):c.995G>A (p.Gly332Asp)
|
|
|
NM_001374353.1(GLI2):c.3784C>T (p.His1262Tyr)
|
rs794727100
|
|
NM_001375.3(DNASE2):c.965G>A (p.Gly322Asp)
|
rs1970317070
|
|
NM_001375808.2(LPIN2):c.*1199G>A
|
rs566472161
|
|
NM_001375808.2(LPIN2):c.*1220G>A
|
rs886053749
|
|
NM_001375808.2(LPIN2):c.*1417C>T
|
rs745743898
|
|
NM_001375808.2(LPIN2):c.*1473T>G
|
rs540306659
|
|
NM_001375808.2(LPIN2):c.*1494G>A
|
rs577975091
|
|
NM_001375808.2(LPIN2):c.*1504T>C
|
rs751740607
|
|
NM_001375808.2(LPIN2):c.*1514G>A
|
rs544570644
|
|
NM_001375808.2(LPIN2):c.*217G>T
|
rs886053763
|
|
NM_001375808.2(LPIN2):c.*2216C>A
|
rs886053746
|
|
NM_001375808.2(LPIN2):c.*2685GAAAAA[1]
|
rs777601819
|
|
NM_001375808.2(LPIN2):c.*271T>G
|
rs2077028775
|
|
NM_001375808.2(LPIN2):c.*2759A>C
|
rs886053743
|
|
NM_001375808.2(LPIN2):c.*2787C>G
|
rs886053742
|
|
NM_001375808.2(LPIN2):c.*2830C>T
|
rs886053741
|
|
NM_001375808.2(LPIN2):c.*2831CA[1]
|
rs886053740
|
|
NM_001375808.2(LPIN2):c.*2890_*2893dup
|
rs540600202
|
|
NM_001375808.2(LPIN2):c.*362T>C
|
rs886053760
|
|
NM_001375808.2(LPIN2):c.*493G>A
|
rs886053758
|
|
NM_001375808.2(LPIN2):c.*507T>C
|
rs886053756
|
|
NM_001375808.2(LPIN2):c.*5G>A
|
rs531230516
|
|
NM_001375808.2(LPIN2):c.*703dup
|
rs200435334
|
|
NM_001375808.2(LPIN2):c.*767A>G
|
rs886053754
|
|
NM_001375808.2(LPIN2):c.*772G>A
|
rs948592383
|
|
NM_001375808.2(LPIN2):c.*792G>C
|
rs542453339
|
|
NM_001375808.2(LPIN2):c.*796T>C
|
rs567530586
|
|
NM_001375808.2(LPIN2):c.*805C>G
|
rs146605124
|
|
NM_001375808.2(LPIN2):c.*805C>T
|
rs146605124
|
|
NM_001375808.2(LPIN2):c.*813A>C
|
rs547125074
|
|
NM_001375808.2(LPIN2):c.*855A>G
|
rs2077017832
|
|
NM_001375808.2(LPIN2):c.*90C>T
|
rs547359065
|
|
NM_001375808.2(LPIN2):c.-10+1354A>G
|
rs886053769
|
|
NM_001375808.2(LPIN2):c.1010G>C (p.Ser337Thr)
|
rs563019654
|
|
NM_001375808.2(LPIN2):c.1049T>G (p.Leu350Arg)
|
rs2144195296
|
|
NM_001375808.2(LPIN2):c.1051G>C (p.Glu351Gln)
|
rs2077310038
|
|
NM_001375808.2(LPIN2):c.1061A>G (p.Gln354Arg)
|
|
|
NM_001375808.2(LPIN2):c.1073T>C (p.Met358Thr)
|
rs2077309425
|
|
NM_001375808.2(LPIN2):c.10G>T (p.Val4Leu)
|
rs2143203306
|
|
NM_001375808.2(LPIN2):c.1135G>A (p.Ala379Thr)
|
|
|
NM_001375808.2(LPIN2):c.1145T>G (p.Val382Gly)
|
rs751176955
|
|
NM_001375808.2(LPIN2):c.1169-7del
|
rs746626720
|
|
NM_001375808.2(LPIN2):c.1169G>C (p.Gly390Ala)
|
rs761918167
|
|
NM_001375808.2(LPIN2):c.1176C>A (p.His392Gln)
|
rs774569139
|
|
NM_001375808.2(LPIN2):c.1201G>C (p.Asp401His)
|
|
|
NM_001375808.2(LPIN2):c.1203T>G (p.Asp401Glu)
|
rs1018736752
|
|
NM_001375808.2(LPIN2):c.1228G>C (p.Gly410Arg)
|
|
|
NM_001375808.2(LPIN2):c.1229G>A (p.Gly410Asp)
|
rs2077255674
|
|
NM_001375808.2(LPIN2):c.1229G>T (p.Gly410Val)
|
|
|
NM_001375808.2(LPIN2):c.1265A>G (p.Lys422Arg)
|
rs2144177505
|
|
NM_001375808.2(LPIN2):c.1268+6G>A
|
|
|
NM_001375808.2(LPIN2):c.1291C>A (p.Gln431Lys)
|
|
|
NM_001375808.2(LPIN2):c.1312C>T (p.Leu438Phe)
|
rs138079183
|
|
NM_001375808.2(LPIN2):c.1315T>C (p.Ser439Pro)
|
rs1555673672
|
|
NM_001375808.2(LPIN2):c.1322C>A (p.Ser441Tyr)
|
rs2077211393
|
|
NM_001375808.2(LPIN2):c.1322C>G (p.Ser441Cys)
|
rs2077211393
|
|
NM_001375808.2(LPIN2):c.133T>G (p.Cys45Gly)
|
rs2143202250
|
|
NM_001375808.2(LPIN2):c.1369G>A (p.Glu457Lys)
|
|
|
NM_001375808.2(LPIN2):c.1390A>G (p.Met464Val)
|
rs2077210318
|
|
NM_001375808.2(LPIN2):c.1399C>T (p.Pro467Ser)
|
rs2144161696
|
|
NM_001375808.2(LPIN2):c.1417C>A (p.Leu473Ile)
|
|
|
NM_001375808.2(LPIN2):c.1423G>A (p.Gly475Arg)
|
rs2077209843
|
|
NM_001375808.2(LPIN2):c.1428C>T (p.Gly476=)
|
rs2077209708
|
|
NM_001375808.2(LPIN2):c.1442G>C (p.Gly481Ala)
|
rs377661526
|
|
NM_001375808.2(LPIN2):c.1456+5G>A
|
rs767379049
|
|
NM_001375808.2(LPIN2):c.1456+5G>T
|
|
|
NM_001375808.2(LPIN2):c.1504C>G (p.Pro502Ala)
|
rs2077177749
|
|
NM_001375808.2(LPIN2):c.151C>T (p.Arg51Trp)
|
|
|
NM_001375808.2(LPIN2):c.1522C>T (p.Pro508Ser)
|
rs1598528577
|
|
NM_001375808.2(LPIN2):c.1547A>G (p.Asn516Ser)
|
rs2144150580
|
|
NM_001375808.2(LPIN2):c.154T>G (p.Phe52Val)
|
|
|
NM_001375808.2(LPIN2):c.1596A>C (p.Gln532His)
|
|
|
NM_001375808.2(LPIN2):c.1626A>C (p.Thr542=)
|
rs1568519739
|
|
NM_001375808.2(LPIN2):c.1669C>T (p.Arg557Cys)
|
|
|
NM_001375808.2(LPIN2):c.1711C>T (p.Leu571=)
|
rs151293770
|
|
NM_001375808.2(LPIN2):c.1716A>G (p.Pro572=)
|
rs2077138820
|
|
NM_001375808.2(LPIN2):c.1726G>A (p.Glu576Lys)
|
rs946046520
|
|
NM_001375808.2(LPIN2):c.1749_1781del (p.Ser585_Ala595del)
|
|
|
NM_001375808.2(LPIN2):c.1754G>C (p.Ser585Thr)
|
rs2077137787
|
|
NM_001375808.2(LPIN2):c.1756G>A (p.Asp586Asn)
|
rs2144139779
|
|
NM_001375808.2(LPIN2):c.1775A>G (p.Lys592Arg)
|
rs2077137437
|
|
NM_001375808.2(LPIN2):c.1783G>T (p.Ala595Ser)
|
|
|
NM_001375808.2(LPIN2):c.1786G>A (p.Gly596Ser)
|
|
|
NM_001375808.2(LPIN2):c.1809CTC[1] (p.Ser606del)
|
|
|
NM_001375808.2(LPIN2):c.1811C>A (p.Ser604Tyr)
|
|
|
NM_001375808.2(LPIN2):c.1864A>T (p.Ile622Phe)
|
|
|
NM_001375808.2(LPIN2):c.1877C>T (p.Pro626Leu)
|
rs2144132938
|
|
NM_001375808.2(LPIN2):c.1894A>C (p.Thr632Pro)
|
|
|
NM_001375808.2(LPIN2):c.1894A>G (p.Thr632Ala)
|
|
|
NM_001375808.2(LPIN2):c.1901C>T (p.Ser634Leu)
|
|
|
NM_001375808.2(LPIN2):c.1915C>G (p.Leu639Val)
|
|
|
NM_001375808.2(LPIN2):c.1939-2del
|
rs745529823
|
|
NM_001375808.2(LPIN2):c.1940C>T (p.Ala647Val)
|
rs2077102755
|
|
NM_001375808.2(LPIN2):c.1954C>T (p.His652Tyr)
|
|
|
NM_001375808.2(LPIN2):c.195T>A (p.Ile65=)
|
rs2077582494
|
|
NM_001375808.2(LPIN2):c.1985T>C (p.Ile662Thr)
|
|
|
NM_001375808.2(LPIN2):c.1997A>G (p.Tyr666Cys)
|
|
|
NM_001375808.2(LPIN2):c.199A>G (p.Ile67Val)
|
rs1448362269
|
|
NM_001375808.2(LPIN2):c.2011C>T (p.Arg671Cys)
|
rs773597485
|
|
NM_001375808.2(LPIN2):c.2016T>C (p.Cys672=)
|
rs2077101778
|
|
NM_001375808.2(LPIN2):c.2034G>C (p.Leu678=)
|
rs749526038
|
|
NM_001375808.2(LPIN2):c.2053A>G (p.Ile685Val)
|
|
|
NM_001375808.2(LPIN2):c.2060T>C (p.Ile687Thr)
|
|
|
NM_001375808.2(LPIN2):c.206T>C (p.Ile69Thr)
|
rs1555677681
|
|
NM_001375808.2(LPIN2):c.2076G>C (p.Gly692=)
|
rs781016213
|
|
NM_001375808.2(LPIN2):c.2088G>A (p.Lys696=)
|
rs778440902
|
|
NM_001375808.2(LPIN2):c.2124C>T (p.Gly708=)
|
rs1170798474
|
|
NM_001375808.2(LPIN2):c.2161C>T (p.His721Tyr)
|
rs200256485
|
|
NM_001375808.2(LPIN2):c.2183A>G (p.Tyr728Cys)
|
rs1335621701
|
|
NM_001375808.2(LPIN2):c.2189T>C (p.Phe730Ser)
|
rs2077065305
|
|
NM_001375808.2(LPIN2):c.220G>A (p.Val74Met)
|
rs755936540
|
|
NM_001375808.2(LPIN2):c.2211C>T (p.Ala737=)
|
rs886053765
|
|
NM_001375808.2(LPIN2):c.2237G>A (p.Gly746Asp)
|
rs1555672260
|
|
NM_001375808.2(LPIN2):c.2246A>G (p.His749Arg)
|
rs1598519554
|
|
NM_001375808.2(LPIN2):c.2265C>T (p.Gly755=)
|
rs2144118754
|
|
NM_001375808.2(LPIN2):c.2279G>A (p.Arg760Gln)
|
rs2077063454
|
|
NM_001375808.2(LPIN2):c.2327+7C>T
|
rs2144118376
|
|
NM_001375808.2(LPIN2):c.2336T>C (p.Ile779Thr)
|
rs2077055890
|
|
NM_001375808.2(LPIN2):c.2348C>T (p.Pro783Leu)
|
rs2144116602
|
|
NM_001375808.2(LPIN2):c.2353A>G (p.Lys785Glu)
|
|
|
NM_001375808.2(LPIN2):c.2358C>A (p.Phe786Leu)
|
|
|
NM_001375808.2(LPIN2):c.2385G>C (p.Lys795Asn)
|
rs775976047
|
|
NM_001375808.2(LPIN2):c.2396C>T (p.Ala799Val)
|
rs2077055023
|
|
NM_001375808.2(LPIN2):c.2398C>A (p.Pro800Thr)
|
|
|
NM_001375808.2(LPIN2):c.2409G>C (p.Gln803His)
|
rs876660987
|
|
NM_001375808.2(LPIN2):c.2410C>A (p.Pro804Thr)
|
rs1290776094
|
|
NM_001375808.2(LPIN2):c.241G>A (p.Gly81Ser)
|
rs2143138290
|
|
NM_001375808.2(LPIN2):c.2428G>A (p.Gly810Arg)
|
|
|
NM_001375808.2(LPIN2):c.2451T>C (p.Tyr817=)
|
rs2144112680
|
|
NM_001375808.2(LPIN2):c.2456A>G (p.Tyr819Cys)
|
|
|
NM_001375808.2(LPIN2):c.2458A>G (p.Thr820Ala)
|
rs2077043149
|
|
NM_001375808.2(LPIN2):c.2506G>A (p.Gly836Ser)
|
rs2077042449
|
|
NM_001375808.2(LPIN2):c.2531A>G (p.Lys844Arg)
|
rs2077042167
|
|
NM_001375808.2(LPIN2):c.2537A>C (p.Asn846Thr)
|
rs1251007885
|
|
NM_001375808.2(LPIN2):c.2566C>T (p.Leu856Phe)
|
rs200839841
|
|
NM_001375808.2(LPIN2):c.2569G>A (p.Val857Met)
|
|
|
NM_001375808.2(LPIN2):c.2569G>T (p.Val857Leu)
|
rs1346809433
|
|
NM_001375808.2(LPIN2):c.2573A>G (p.Glu858Gly)
|
rs2077036512
|
|
NM_001375808.2(LPIN2):c.2583C>A (p.Phe861Leu)
|
|
|
NM_001375808.2(LPIN2):c.2594G>A (p.Ser865Asn)
|
rs1398896345
|
|
NM_001375808.2(LPIN2):c.2609C>T (p.Ser870Phe)
|
|
|
NM_001375808.2(LPIN2):c.2617C>T (p.Pro873Ser)
|
|
|
NM_001375808.2(LPIN2):c.2621G>A (p.Cys874Tyr)
|
rs201160155
|
|
NM_001375808.2(LPIN2):c.2621G>T (p.Cys874Phe)
|
rs201160155
|
|
NM_001375808.2(LPIN2):c.2623C>A (p.Pro875Thr)
|
rs2077035373
|
|
NM_001375808.2(LPIN2):c.2628G>A (p.Glu876=)
|
rs2144110086
|
|
NM_001375808.2(LPIN2):c.2639_2641del (p.Phe880del)
|
rs755987482
|
|
NM_001375808.2(LPIN2):c.2640C>G (p.Phe880Leu)
|
|
|
NM_001375808.2(LPIN2):c.2649G>A (p.Trp883Ter)
|
|
|
NM_001375808.2(LPIN2):c.2656C>G (p.Pro886Ala)
|
rs1470910142
|
|
NM_001375808.2(LPIN2):c.2686T>A (p.Ser896Thr)
|
|
|
NM_001375808.2(LPIN2):c.26G>A (p.Gly9Glu)
|
|
|
NM_001375808.2(LPIN2):c.325C>T (p.Pro109Ser)
|
rs2077534072
|
|
NM_001375808.2(LPIN2):c.350A>C (p.Asp117Ala)
|
|
|
NM_001375808.2(LPIN2):c.359C>A (p.Thr120Asn)
|
rs562075898
|
|
NM_001375808.2(LPIN2):c.374C>G (p.Ser125Trp)
|
rs542116963
|
|
NM_001375808.2(LPIN2):c.410T>C (p.Ile137Thr)
|
rs2077531992
|
|
NM_001375808.2(LPIN2):c.413C>T (p.Ser138Leu)
|
|
|
NM_001375808.2(LPIN2):c.422T>C (p.Leu141Ser)
|
rs763550824
|
|
NM_001375808.2(LPIN2):c.434C>T (p.Thr145Ile)
|
|
|
NM_001375808.2(LPIN2):c.436A>G (p.Ile146Val)
|
rs2143107101
|
|
NM_001375808.2(LPIN2):c.445C>T (p.Pro149Ser)
|
rs376661021
|
|
NM_001375808.2(LPIN2):c.501G>C (p.Lys167Asn)
|
rs751939691
|
|
NM_001375808.2(LPIN2):c.523G>C (p.Ala175Pro)
|
rs1334969199
|
|
NM_001375808.2(LPIN2):c.542G>A (p.Cys181Tyr)
|
|
|
NM_001375808.2(LPIN2):c.562G>A (p.Asp188Asn)
|
|
|
NM_001375808.2(LPIN2):c.572A>G (p.Lys191Arg)
|
rs778040063
|
|
NM_001375808.2(LPIN2):c.578C>T (p.Ala193Val)
|
rs1290039087
|
|
NM_001375808.2(LPIN2):c.584C>G (p.Ala195Gly)
|
rs1226336598
|
|
NM_001375808.2(LPIN2):c.590+5dup
|
rs2077527998
|
|
NM_001375808.2(LPIN2):c.590G>A (p.Arg197Gln)
|
rs753918449
|
|
NM_001375808.2(LPIN2):c.595T>C (p.Ser199Pro)
|
|
|
NM_001375808.2(LPIN2):c.601A>G (p.Asn201Asp)
|
rs746938405
|
|
NM_001375808.2(LPIN2):c.608C>A (p.Ser203Tyr)
|
|
|
NM_001375808.2(LPIN2):c.616GAA[2] (p.Glu208del)
|
rs749710348
|
|
NM_001375808.2(LPIN2):c.622G>A (p.Glu208Lys)
|
|
|
NM_001375808.2(LPIN2):c.629A>G (p.Lys210Arg)
|
|
|
NM_001375808.2(LPIN2):c.631G>C (p.Glu211Gln)
|
|
|
NM_001375808.2(LPIN2):c.650C>G (p.Ser217Cys)
|
rs2144209857
|
|
NM_001375808.2(LPIN2):c.658_660del (p.His220del)
|
rs761910090
|
|
NM_001375808.2(LPIN2):c.659A>G (p.His220Arg)
|
|
|
NM_001375808.2(LPIN2):c.689C>T (p.Pro230Leu)
|
|
|
NM_001375808.2(LPIN2):c.698C>A (p.Thr233Asn)
|
rs139654849
|
|
NM_001375808.2(LPIN2):c.699-8C>G
|
rs1568540842
|
|
NM_001375808.2(LPIN2):c.700A>G (p.Thr234Ala)
|
|
|
NM_001375808.2(LPIN2):c.71A>G (p.Gln24Arg)
|
rs1568575278
|
|
NM_001375808.2(LPIN2):c.751C>A (p.Pro251Thr)
|
rs1350091087
|
|
NM_001375808.2(LPIN2):c.769A>G (p.Arg257Gly)
|
rs778325300
|
|
NM_001375808.2(LPIN2):c.77C>T (p.Thr26Ile)
|
|
|
NM_001375808.2(LPIN2):c.79C>G (p.Leu27Val)
|
|
|
NM_001375808.2(LPIN2):c.830A>G (p.Lys277Arg)
|
rs1171826173
|
|
NM_001375808.2(LPIN2):c.842C>G (p.Ser281Cys)
|
rs2144196740
|
|
NM_001375808.2(LPIN2):c.863C>T (p.Ala288Val)
|
rs766692933
|
|
NM_001375808.2(LPIN2):c.865A>G (p.Thr289Ala)
|
|
|
NM_001375808.2(LPIN2):c.884A>T (p.Asn295Ile)
|
rs759046454
|
|
NM_001375808.2(LPIN2):c.895C>T (p.Arg299Trp)
|
|
|
NM_001375808.2(LPIN2):c.932T>A (p.Val311Asp)
|
rs886053768
|
|
NM_001375808.2(LPIN2):c.934G>C (p.Glu312Gln)
|
|
|
NM_001375808.2(LPIN2):c.968C>T (p.Thr323Ile)
|
rs765953887
|
|
NM_001375808.2(LPIN2):c.970A>T (p.Ile324Leu)
|
rs1476358117
|
|
NM_001407129.1(TGFBR2):c.-109C>T
|
rs1697919506
|
|
NM_001421.4(ELF4):c.668A>T (p.Asn223Ile)
|
|
|
NM_001421.4(ELF4):c.724G>A (p.Val242Met)
|
|
|
NM_001457.4(FLNB):c.1327G>A (p.Val443Ile)
|
rs200902568
|
|
NM_001457.4(FLNB):c.3008C>T (p.Thr1003Met)
|
rs1178934749
|
|
NM_001457.4(FLNB):c.4620T>C (p.Phe1540=)
|
rs2107220411
|
|
NM_001457.4(FLNB):c.5379C>T (p.Val1793=)
|
rs2097330797
|
|
NM_001558.4(IL10RA):c.*1664A>G
|
rs886047713
|
|
NM_001558.4(IL10RA):c.*328G>C
|
rs753647542
|
|
NM_001558.4(IL10RA):c.*846T>A
|
rs2058089031
|
|
NM_001558.4(IL10RA):c.*872G>A
|
rs1591267794
|
|
NM_001558.4(IL10RA):c.-65C>T
|
rs2057985368
|
|
NM_001558.4(IL10RA):c.1064T>A (p.Val355Glu)
|
|
|
NM_001558.4(IL10RA):c.1091G>A (p.Ser364Asn)
|
|
|
NM_001558.4(IL10RA):c.1093A>G (p.Ser365Gly)
|
|
|
NM_001558.4(IL10RA):c.1108A>T (p.Ser370Cys)
|
rs2134996112
|
|
NM_001558.4(IL10RA):c.1111G>A (p.Gly371Arg)
|
rs1591266329
|
|
NM_001558.4(IL10RA):c.1141C>T (p.Pro381Ser)
|
|
|
NM_001558.4(IL10RA):c.1169A>T (p.Gln390Leu)
|
rs1591266369
|
|
NM_001558.4(IL10RA):c.1183A>G (p.Ser395Gly)
|
|
|
NM_001558.4(IL10RA):c.1240G>A (p.Gly414Arg)
|
|
|
NM_001558.4(IL10RA):c.1247C>G (p.Thr416Arg)
|
rs200254237
|
|
NM_001558.4(IL10RA):c.1253G>A (p.Gly418Asp)
|
rs2134996550
|
|
NM_001558.4(IL10RA):c.1270C>A (p.His424Asn)
|
|
|
NM_001558.4(IL10RA):c.1309G>A (p.Asp437Asn)
|
rs199688187
|
|
NM_001558.4(IL10RA):c.1318G>A (p.Ala440Thr)
|
rs779845571
|
|
NM_001558.4(IL10RA):c.1318G>T (p.Ala440Ser)
|
rs779845571
|
|
NM_001558.4(IL10RA):c.1324G>T (p.Ala442Ser)
|
|
|
NM_001558.4(IL10RA):c.1336T>A (p.Tyr446Asn)
|
rs763134422
|
|
NM_001558.4(IL10RA):c.13C>T (p.Leu5Phe)
|
|
|
NM_001558.4(IL10RA):c.1400C>T (p.Ser467Leu)
|
rs1327527158
|
|
NM_001558.4(IL10RA):c.1409C>G (p.Thr470Arg)
|
|
|
NM_001558.4(IL10RA):c.140C>G (p.Pro47Arg)
|
|
|
NM_001558.4(IL10RA):c.1458C>T (p.Gly486=)
|
rs1391016354
|
|
NM_001558.4(IL10RA):c.1495C>T (p.Gln499Ter)
|
rs2058078603
|
|
NM_001558.4(IL10RA):c.1502C>T (p.Pro501Leu)
|
|
|
NM_001558.4(IL10RA):c.150T>G (p.Asn50Lys)
|
|
|
NM_001558.4(IL10RA):c.1534C>T (p.Pro512Ser)
|
rs568445118
|
|
NM_001558.4(IL10RA):c.155C>G (p.Ser52Cys)
|
|
|
NM_001558.4(IL10RA):c.1567T>C (p.Trp523Arg)
|
|
|
NM_001558.4(IL10RA):c.158A>C (p.Glu53Ala)
|
rs2134981745
|
|
NM_001558.4(IL10RA):c.1590C>G (p.Ser530Arg)
|
rs2134997313
|
|
NM_001558.4(IL10RA):c.1594A>G (p.Ser532Gly)
|
|
|
NM_001558.4(IL10RA):c.161G>C (p.Ser54Thr)
|
rs772899933
|
|
NM_001558.4(IL10RA):c.1624G>T (p.Ala542Ser)
|
rs1256749577
|
|
NM_001558.4(IL10RA):c.1669C>T (p.Leu557Phe)
|
|
|
NM_001558.4(IL10RA):c.1685A>T (p.Asn562Ile)
|
|
|
NM_001558.4(IL10RA):c.1699A>C (p.Thr567Pro)
|
rs1447881842
|
|
NM_001558.4(IL10RA):c.1707C>T (p.Pro569=)
|
rs2058080759
|
|
NM_001558.4(IL10RA):c.1715C>G (p.Ser572Cys)
|
|
|
NM_001558.4(IL10RA):c.1729A>T (p.Ser577Cys)
|
rs2134997563
|
|
NM_001558.4(IL10RA):c.187A>G (p.Arg63Gly)
|
|
|
NM_001558.4(IL10RA):c.20T>A (p.Val7Glu)
|
rs2057986809
|
|
NM_001558.4(IL10RA):c.25C>T (p.Leu9=)
|
rs886047706
|
|
NM_001558.4(IL10RA):c.284G>T (p.Gly95Val)
|
|
|
NM_001558.4(IL10RA):c.295A>T (p.Arg99Ter)
|
rs886047709
|
|
NM_001558.4(IL10RA):c.307G>C (p.Val103Leu)
|
|
|
NM_001558.4(IL10RA):c.362A>T (p.Asp121Val)
|
|
|
NM_001558.4(IL10RA):c.367+4C>T
|
rs768106799
|
|
NM_001558.4(IL10RA):c.37C>T (p.Leu13Phe)
|
rs2057987183
|
|
NM_001558.4(IL10RA):c.401T>C (p.Ile134Thr)
|
|
|
NM_001558.4(IL10RA):c.416T>A (p.Ile139Asn)
|
rs775703417
|
|
NM_001558.4(IL10RA):c.426G>C (p.Lys142Asn)
|
rs1487076003
|
|
NM_001558.4(IL10RA):c.447G>T (p.Lys149Asn)
|
rs750580462
|
|
NM_001558.4(IL10RA):c.44T>C (p.Leu15Pro)
|
|
|
NM_001558.4(IL10RA):c.452C>G (p.Ala151Gly)
|
|
|
NM_001558.4(IL10RA):c.464A>G (p.Asp155Gly)
|
|
|
NM_001558.4(IL10RA):c.46C>T (p.Arg16Cys)
|
rs748428395
|
|
NM_001558.4(IL10RA):c.47G>C (p.Arg16Pro)
|
rs75769905
|
|
NM_001558.4(IL10RA):c.494G>A (p.Arg165Gln)
|
|
|
NM_001558.4(IL10RA):c.530A>G (p.Asn177Ser)
|
rs2058037125
|
|
NM_001558.4(IL10RA):c.559_579dup (p.His187_Leu193dup)
|
rs781485945
|
|
NM_001558.4(IL10RA):c.580A>T (p.Thr194Ser)
|
rs2058040889
|
|
NM_001558.4(IL10RA):c.592G>A (p.Val198Met)
|
|
|
NM_001558.4(IL10RA):c.632C>T (p.Ser211Phe)
|
rs143645358
|
|
NM_001558.4(IL10RA):c.635G>A (p.Arg212Gln)
|
|
|
NM_001558.4(IL10RA):c.646G>A (p.Gly216Arg)
|
|
|
NM_001558.4(IL10RA):c.65A>C (p.His22Pro)
|
rs1249233978
|
|
NM_001558.4(IL10RA):c.67+11G>A
|
rs376956484
|
|
NM_001558.4(IL10RA):c.67+11G>C
|
rs376956484
|
|
NM_001558.4(IL10RA):c.67+13G>A
|
rs886047707
|
|
NM_001558.4(IL10RA):c.670A>T (p.Ile224Phe)
|
rs2228055
|
|
NM_001558.4(IL10RA):c.687G>C (p.Gln229His)
|
|
|
NM_001558.4(IL10RA):c.688T>C (p.Tyr230His)
|
|
|
NM_001558.4(IL10RA):c.697G>T (p.Val233Leu)
|
rs41354146
|
|
NM_001558.4(IL10RA):c.700A>G (p.Thr234Ala)
|
rs551546135
|
|
NM_001558.4(IL10RA):c.703A>G (p.Asn235Asp)
|
|
|
NM_001558.4(IL10RA):c.71C>A (p.Thr24Lys)
|
|
|
NM_001558.4(IL10RA):c.736C>T (p.Leu246Phe)
|
|
|
NM_001558.4(IL10RA):c.742G>A (p.Gly248Arg)
|
|
|
NM_001558.4(IL10RA):c.746C>A (p.Ala249Asp)
|
rs1325062418
|
|
NM_001558.4(IL10RA):c.782G>A (p.Arg261Gln)
|
|
|
NM_001558.4(IL10RA):c.799C>G (p.Pro267Ala)
|
|
|
NM_001558.4(IL10RA):c.802A>G (p.Ser268Gly)
|
rs2058051810
|
|
NM_001558.4(IL10RA):c.810+6T>A
|
rs2134991742
|
|
NM_001558.4(IL10RA):c.846C>A (p.Ser282Arg)
|
|
|
NM_001558.4(IL10RA):c.859C>G (p.Pro287Ala)
|
|
|
NM_001558.4(IL10RA):c.873C>G (p.Asp291Glu)
|
rs2134995540
|
|
NM_001558.4(IL10RA):c.874A>G (p.Thr292Ala)
|
|
|
NM_001558.4(IL10RA):c.887T>C (p.Leu296Pro)
|
|
|
NM_001558.4(IL10RA):c.8C>G (p.Pro3Arg)
|
rs56008037
|
|
NM_001558.4(IL10RA):c.910G>A (p.Val304Met)
|
rs1179563256
|
|
NM_001558.4(IL10RA):c.922C>A (p.Leu308Met)
|
rs1213121269
|
|
NM_001611.5(ACP5):c.109G>A (p.Val37Ile)
|
|
|
NM_001611.5(ACP5):c.130A>G (p.Thr44Ala)
|
|
|
NM_001611.5(ACP5):c.13A>G (p.Thr5Ala)
|
rs2145093839
|
|
NM_001611.5(ACP5):c.144G>A (p.Met48Ile)
|
|
|
NM_001611.5(ACP5):c.152C>A (p.Ala51Asp)
|
|
|
NM_001611.5(ACP5):c.16G>A (p.Ala6Thr)
|
rs1599637550
|
|
NM_001611.5(ACP5):c.188C>T (p.Ala63Val)
|
|
|
NM_001611.5(ACP5):c.191A>G (p.Asp64Gly)
|
rs765370739
|
|
NM_001611.5(ACP5):c.1A>G (p.Met1Val)
|
rs2145093934
|
|
NM_001611.5(ACP5):c.262-14T>C
|
rs1973181435
|
|
NM_001611.5(ACP5):c.262-15_262-12del
|
|
|
NM_001611.5(ACP5):c.298C>T (p.Arg100Cys)
|
|
|
NM_001611.5(ACP5):c.329A>T (p.Asn110Ile)
|
|
|
NM_001611.5(ACP5):c.331C>T (p.His111Tyr)
|
rs1195620494
|
|
NM_001611.5(ACP5):c.332A>G (p.His111Arg)
|
|
|
NM_001611.5(ACP5):c.340C>T (p.Leu114Phe)
|
rs763172932
|
|
NM_001611.5(ACP5):c.362T>C (p.Ile121Thr)
|
|
|
NM_001611.5(ACP5):c.385C>T (p.Arg129Cys)
|
|
|
NM_001611.5(ACP5):c.398C>G (p.Pro133Arg)
|
rs1243676385
|
|
NM_001611.5(ACP5):c.406T>C (p.Phe136Leu)
|
rs2145089685
|
|
NM_001611.5(ACP5):c.412C>T (p.Arg138Cys)
|
|
|
NM_001611.5(ACP5):c.418C>T (p.His140Tyr)
|
rs2145089608
|
|
NM_001611.5(ACP5):c.433C>T (p.Gln145Ter)
|
|
|
NM_001611.5(ACP5):c.46C>A (p.Pro16Thr)
|
rs2145093640
|
|
NM_001611.5(ACP5):c.500T>C (p.Phe167Ser)
|
rs764197394
|
|
NM_001611.5(ACP5):c.517G>A (p.Glu173Lys)
|
rs1973158210
|
|
NM_001611.5(ACP5):c.520A>G (p.Arg174Gly)
|
|
|
NM_001611.5(ACP5):c.529G>A (p.Asp177Asn)
|
rs766846705
|
|
NM_001611.5(ACP5):c.532G>A (p.Val178Met)
|
|
|
NM_001611.5(ACP5):c.548C>G (p.Thr183Arg)
|
rs371719196
|
|
NM_001611.5(ACP5):c.567G>T (p.Lys189Asn)
|
|
|
NM_001611.5(ACP5):c.56C>T (p.Ala19Val)
|
|
|
NM_001611.5(ACP5):c.570A>T (p.Lys190Asn)
|
|
|
NM_001611.5(ACP5):c.578C>A (p.Ala193Glu)
|
rs756201795
|
|
NM_001611.5(ACP5):c.578C>T (p.Ala193Val)
|
|
|
NM_001611.5(ACP5):c.583G>A (p.Ala195Thr)
|
|
|
NM_001611.5(ACP5):c.584C>G (p.Ala195Gly)
|
|
|
NM_001611.5(ACP5):c.587G>A (p.Arg196Lys)
|
rs1599634603
|
|
NM_001611.5(ACP5):c.5A>C (p.Asp2Ala)
|
|
|
NM_001611.5(ACP5):c.602T>C (p.Leu201Pro)
|
rs387906672
|
|
NM_001611.5(ACP5):c.604G>C (p.Val202Leu)
|
rs1188745377
|
|
NM_001611.5(ACP5):c.611G>A (p.Gly204Asp)
|
rs775336126
|
|
NM_001611.5(ACP5):c.613C>T (p.His205Tyr)
|
|
|
NM_001611.5(ACP5):c.617A>G (p.Tyr206Cys)
|
|
|
NM_001611.5(ACP5):c.619C>A (p.Pro207Thr)
|
rs1973150471
|
|
NM_001611.5(ACP5):c.61G>C (p.Gly21Arg)
|
rs757630659
|
|
NM_001611.5(ACP5):c.622G>C (p.Val208Leu)
|
|
|
NM_001611.5(ACP5):c.622G>T (p.Val208Leu)
|
|
|
NM_001611.5(ACP5):c.637G>A (p.Glu213Lys)
|
|
|
NM_001611.5(ACP5):c.672_673inv (p.Arg225Trp)
|
|
|
NM_001611.5(ACP5):c.682C>G (p.Leu228Val)
|
rs142623076
|
|
NM_001611.5(ACP5):c.68C>T (p.Thr23Ile)
|
rs939236666
|
|
NM_001611.5(ACP5):c.731T>C (p.Leu244Pro)
|
rs1453335064
|
|
NM_001611.5(ACP5):c.736-3C>T
|
rs773090099
|
|
NM_001611.5(ACP5):c.736-7T>A
|
rs766031438
|
|
NM_001611.5(ACP5):c.755G>A (p.Gly252Asp)
|
|
|
NM_001611.5(ACP5):c.766G>A (p.Val256Met)
|
rs146196342
|
|
NM_001611.5(ACP5):c.766G>C (p.Val256Leu)
|
rs146196342
|
|
NM_001611.5(ACP5):c.775G>A (p.Gly259Arg)
|
rs2145082240
|
|
NM_001611.5(ACP5):c.781G>T (p.Gly261Trp)
|
rs2145082191
|
|
NM_001611.5(ACP5):c.802A>G (p.Lys268Glu)
|
|
|
NM_001611.5(ACP5):c.804G>T (p.Lys268Asn)
|
rs1973084550
|
|
NM_001611.5(ACP5):c.824C>T (p.Pro275Leu)
|
rs1973082559
|
|
NM_001611.5(ACP5):c.838C>T (p.Arg280Cys)
|
rs774428695
|
|
NM_001611.5(ACP5):c.846C>G (p.His282Gln)
|
rs749645391
|
|
NM_001611.5(ACP5):c.848A>G (p.Tyr283Cys)
|
rs931778512
|
|
NM_001611.5(ACP5):c.851G>A (p.Gly284Glu)
|
rs1973079948
|
|
NM_001611.5(ACP5):c.85G>A (p.Val29Ile)
|
rs1297907616
|
|
NM_001611.5(ACP5):c.871G>C (p.Gly291Arg)
|
rs752091275
|
|
NM_001611.5(ACP5):c.8T>C (p.Met3Thr)
|
|
|
NM_001611.5(ACP5):c.902A>G (p.Glu301Gly)
|
|
|
NM_001611.5(ACP5):c.914C>T (p.Thr305Ile)
|
rs2145081185
|
|
NM_001611.5(ACP5):c.919A>T (p.Ile307Phe)
|
rs1483232010
|
|
NM_001611.5(ACP5):c.920T>A (p.Ile307Asn)
|
|
|
NM_001611.5(ACP5):c.921C>G (p.Ile307Met)
|
rs763811862
|
|
NM_001611.5(ACP5):c.922G>A (p.Glu308Lys)
|
|
|
NM_001611.5(ACP5):c.949A>G (p.Thr317Ala)
|
|
|
NM_001611.5(ACP5):c.964C>G (p.Arg322Gly)
|
rs146436811
|
|
NM_001611.5(ACP5):c.965G>A (p.Arg322Gln)
|
rs149133430
|
|
NM_001611.5(ACP5):c.970A>G (p.Arg324Gly)
|
|
|
NM_001611.5(ACP5):c.971G>T (p.Arg324Met)
|
rs145265651
|
|
NM_001611.5(ACP5):c.976T>C (p.Ter326Arg)
|
|
|
NM_001611.5(ACP5):c.97G>A (p.Asp33Asn)
|
rs2145093288
|
|
NM_001754.5(RUNX1):c.*83G>A
|
rs2145870845
|
|
NM_001754.5(RUNX1):c.1013C>T (p.Ala338Val)
|
rs1273605678
|
|
NM_001754.5(RUNX1):c.1166C>G (p.Ser389Trp)
|
|
|
NM_001754.5(RUNX1):c.1180G>A (p.Gly394Ser)
|
rs2056455422
|
|
NM_001754.5(RUNX1):c.1184C>G (p.Pro395Arg)
|
rs868527382
|
|
NM_001754.5(RUNX1):c.1191A>T (p.Gln397His)
|
rs1176713877
|
|
NM_001754.5(RUNX1):c.1197C>A (p.Ser399Arg)
|
rs1555884864
|
|
NM_001754.5(RUNX1):c.1277C>G (p.Pro426Arg)
|
|
|
NM_001754.5(RUNX1):c.1318G>A (p.Ala440Thr)
|
|
|
NM_001754.5(RUNX1):c.1353C>A (p.Asp451Glu)
|
|
|
NM_001754.5(RUNX1):c.1367_1426dup (p.Glu456_Ala475dup)
|
rs2056446750
|
|
NM_001754.5(RUNX1):c.1409C>T (p.Ala470Val)
|
rs1601331921
|
|
NM_001754.5(RUNX1):c.194C>T (p.Ala65Val)
|
rs2058002974
|
|
NM_001754.5(RUNX1):c.232A>C (p.Met78Leu)
|
|
|
NM_001754.5(RUNX1):c.331A>C (p.Thr111Pro)
|
rs1555899722
|
|
NM_001754.5(RUNX1):c.340A>G (p.Ile114Val)
|
rs2146407952
|
|
NM_001754.5(RUNX1):c.342C>G (p.Ile114Met)
|
|
|
NM_001754.5(RUNX1):c.388G>A (p.Val130Ile)
|
|
|
NM_001754.5(RUNX1):c.463G>A (p.Val155Ile)
|
rs763464804
|
|
NM_001754.5(RUNX1):c.485G>A (p.Arg162Lys)
|
rs1057519750
|
|
NM_001754.5(RUNX1):c.503G>T (p.Gly168Val)
|
rs2057884016
|
|
NM_001754.5(RUNX1):c.620G>A (p.Arg207Gln)
|
rs1229231012
|
|
NM_001754.5(RUNX1):c.671G>A (p.Arg224Gln)
|
rs754894156
|
|
NM_001754.5(RUNX1):c.694C>T (p.Arg232Trp)
|
|
|
NM_001754.5(RUNX1):c.70G>A (p.Gly24Arg)
|
rs1399187182
|
|
NM_001754.5(RUNX1):c.739C>T (p.Pro247Ser)
|
rs2057112093
|
|
NM_001754.5(RUNX1):c.82_84del (p.Ser28del)
|
rs775050403
|
|
NM_001844.5(COL2A1):c.*120C>G
|
rs886049443
|
|
NM_001844.5(COL2A1):c.*131C>T
|
rs886049442
|
|
NM_001844.5(COL2A1):c.*406A>G
|
rs886049441
|
|
NM_001844.5(COL2A1):c.1049C>T (p.Pro350Leu)
|
rs886049448
|
|
NM_001844.5(COL2A1):c.1068+4del
|
rs2136590056
|
|
NM_001844.5(COL2A1):c.1077C>G (p.Val359=)
|
rs202002349
|
|
NM_001844.5(COL2A1):c.12C>T (p.Leu4=)
|
rs886049449
|
|
NM_001844.5(COL2A1):c.1339G>A (p.Gly447Ser)
|
|
|
NM_001844.5(COL2A1):c.1372C>G (p.Pro458Ala)
|
|
|
NM_001844.5(COL2A1):c.1453G>A (p.Ala485Thr)
|
rs556023617
|
|
NM_001844.5(COL2A1):c.1513C>T (p.Pro505Ser)
|
rs865903887
|
|
NM_001844.5(COL2A1):c.1581+4_1581+7del
|
rs1565682292
|
|
NM_001844.5(COL2A1):c.1734+4del
|
rs2136566434
|
|
NM_001844.5(COL2A1):c.1995+5G>A
|
rs1449516565
|
|
NM_001844.5(COL2A1):c.2050G>T (p.Gly684Cys)
|
rs1231988113
|
|
NM_001844.5(COL2A1):c.2111dup (p.Gly705fs)
|
rs1939177362
|
|
NM_001844.5(COL2A1):c.2141G>A (p.Gly714Asp)
|
rs1555166537
|
|
NM_001844.5(COL2A1):c.2158G>A (p.Gly720Ser)
|
|
|
NM_001844.5(COL2A1):c.2236C>T (p.Pro746Ser)
|
rs1179925303
|
|
NM_001844.5(COL2A1):c.2410-13T>G
|
rs574507277
|
|
NM_001844.5(COL2A1):c.2618G>T (p.Gly873Val)
|
rs886042009
|
|
NM_001844.5(COL2A1):c.2633C>T (p.Thr878Ile)
|
rs1938961773
|
|
NM_001844.5(COL2A1):c.2660G>A (p.Arg887Gln)
|
rs2136534972
|
|
NM_001844.5(COL2A1):c.2719C>T (p.Pro907Ser)
|
rs1398589070
|
|
NM_001844.5(COL2A1):c.2806G>A (p.Gly936Ser)
|
rs777615798
|
|
NM_001844.5(COL2A1):c.2819G>C (p.Arg940Pro)
|
rs533540496
|
|
NM_001844.5(COL2A1):c.2892C>T (p.Pro964=)
|
rs769500366
|
|
NM_001844.5(COL2A1):c.3180_3188del (p.Glu1060_Ala1063delinsAsp)
|
|
|
NM_001844.5(COL2A1):c.3308C>G (p.Ala1103Gly)
|
rs1180226091
|
|
NM_001844.5(COL2A1):c.3435+4_3435+7del
|
|
|
NM_001844.5(COL2A1):c.3436-3C>A
|
|
|
NM_001844.5(COL2A1):c.3626G>A (p.Gly1209Asp)
|
|
|
NM_001844.5(COL2A1):c.3635G>C (p.Gly1212Ala)
|
rs1555164786
|
|
NM_001844.5(COL2A1):c.3655G>A (p.Asp1219Asn)
|
rs760093841
|
|
NM_001844.5(COL2A1):c.3659T>C (p.Met1220Thr)
|
rs886049445
|
|
NM_001844.5(COL2A1):c.3690G>C (p.Glu1230Asp)
|
rs1347381176
|
|
NM_001844.5(COL2A1):c.3808C>T (p.Arg1270Cys)
|
rs886049444
|
|
NM_001844.5(COL2A1):c.3914G>C (p.Gly1305Ala)
|
rs121912887
|
|
NM_001844.5(COL2A1):c.3950T>G (p.Met1317Arg)
|
rs1555164561
|
|
NM_001844.5(COL2A1):c.4013G>A (p.Ser1338Asn)
|
rs2136508302
|
|
NM_001844.5(COL2A1):c.4135C>T (p.Arg1379Cys)
|
rs141951587
|
|
NM_001844.5(COL2A1):c.4317+9G>C
|
rs1938570357
|
|
NM_001844.5(COL2A1):c.4337del (p.Gly1446fs)
|
rs1565664375
|
|
NM_001844.5(COL2A1):c.4464A>T (p.Ter1488Tyr)
|
|
|
NM_001844.5(COL2A1):c.511G>C (p.Gly171Arg)
|
rs958614345
|
|
NM_001844.5(COL2A1):c.532-3C>A
|
rs755887776
|
|
NM_001844.5(COL2A1):c.626G>A (p.Arg209Gln)
|
|
|
NM_001844.5(COL2A1):c.661C>T (p.Gln221Ter)
|
|
|
NM_001844.5(COL2A1):c.754G>A (p.Gly252Ser)
|
rs2136616123
|
|
NM_001844.5(COL2A1):c.924+14A>C
|
rs1475810942
|
|
NM_001844.5(COL2A1):c.924+2T>A
|
|
|
NM_001844.5(COL2A1):c.944G>A (p.Gly315Asp)
|
|
|
NM_001844.5(COL2A1):c.970-6T>C
|
|
|
NM_001844.5(COL2A1):c.989G>A (p.Gly330Asp)
|
|
|
NM_001851.6(COL9A1):c.1143+4A>T
|
rs1224302280
|
|
NM_001851.6(COL9A1):c.287G>A (p.Arg96Lys)
|
|
|
NM_001851.6(COL9A1):c.73G>C (p.Val25Leu)
|
rs767995228
|
|
NM_001852.4(COL9A2):c.*322G>A
|
rs1057515566
|
|
NM_001852.4(COL9A2):c.*405G>A
|
rs1643903443
|
|
NM_001852.4(COL9A2):c.1009-2A>C
|
rs2124065362
|
|
NM_001852.4(COL9A2):c.1054-15A>G
|
rs774104069
|
|
NM_001852.4(COL9A2):c.1124G>T (p.Arg375Leu)
|
rs370682522
|
|
NM_001852.4(COL9A2):c.1242dup (p.Gly415fs)
|
rs756694568
|
|
NM_001852.4(COL9A2):c.1342G>A (p.Gly448Ser)
|
rs2124049861
|
|
NM_001852.4(COL9A2):c.1485del (p.Gly496fs)
|
rs761748258
|
|
NM_001852.4(COL9A2):c.1535G>A (p.Arg512Lys)
|
rs1057515562
|
|
NM_001852.4(COL9A2):c.1555G>C (p.Asp519His)
|
rs901123053
|
|
NM_001852.4(COL9A2):c.1691_1692insA (p.Gly565fs)
|
rs1643933460
|
|
NM_001852.4(COL9A2):c.1696T>C (p.Tyr566His)
|
rs1643933432
|
|
NM_001852.4(COL9A2):c.1701A>T (p.Pro567=)
|
rs1643933277
|
|
NM_001852.4(COL9A2):c.1902C>T (p.Asn634=)
|
rs781428852
|
|
NM_001852.4(COL9A2):c.1982C>G (p.Pro661Arg)
|
rs150687987
|
|
NM_001852.4(COL9A2):c.300C>T (p.Val100=)
|
rs1644152223
|
|
NM_001852.4(COL9A2):c.370C>G (p.Pro124Ala)
|
rs1057515526
|
|
NM_001853.4(COL9A3):c.1249C>G (p.Pro417Ala)
|
rs1555824129
|
|
NM_001853.4(COL9A3):c.1425_1442del (p.Lys477_Pro482del)
|
rs1600810127
|
|
NM_001853.4(COL9A3):c.1775C>T (p.Pro592Leu)
|
rs1432126169
|
|
NM_001853.4(COL9A3):c.2034_2037dup (p.Gly680fs)
|
rs1190301717
|
|
NM_001853.4(COL9A3):c.275G>C (p.Gly92Ala)
|
rs1991064282
|
|
NM_001853.4(COL9A3):c.337G>C (p.Gly113Arg)
|
rs574865366
|
|
NM_001853.4(COL9A3):c.397G>A (p.Gly133Ser)
|
rs2063514944
|
|
NM_001853.4(COL9A3):c.422C>G (p.Pro141Arg)
|
rs141879928
|
|
NM_001854.4(COL11A1):c.1570C>G (p.Arg524Gly)
|
rs771139447
|
|
NM_001854.4(COL11A1):c.2480C>T (p.Pro827Leu)
|
rs1252968708
|
|
NM_001854.4(COL11A1):c.328G>A (p.Gly110Arg)
|
rs141978499
|
|
NM_001972.4(ELANE):c.13C>T (p.Arg5Cys)
|
rs942026381
|
|
NM_001972.4(ELANE):c.151G>A (p.Gly51Arg)
|
rs1320267189
|
|
NM_001972.4(ELANE):c.228C>G (p.Asn76Lys)
|
rs746799175
|
|
NM_001972.4(ELANE):c.327C>T (p.Tyr109=)
|
rs1339843779
|
|
NM_001972.4(ELANE):c.367-10_367-9dup
|
rs750610201
|
|
NM_001972.4(ELANE):c.498C>T (p.Ala166=)
|
rs2145148773
|
|
NM_001972.4(ELANE):c.676G>A (p.Gly226Arg)
|
rs780046041
|
|
NM_001972.4(ELANE):c.68G>A (p.Gly23Asp)
|
rs2145143878
|
|
NM_001972.4(ELANE):c.744C>T (p.Arg248=)
|
rs2035677633
|
|
NM_001972.4(ELANE):c.93G>T (p.Val31=)
|
rs894935356
|
|
NM_001999.4(FBN2):c.*100A>C
|
rs886059890
|
|
NM_001999.4(FBN2):c.*1050GTT[6]
|
rs886059885
|
|
NM_001999.4(FBN2):c.*1102G>A
|
rs1764871127
|
|
NM_001999.4(FBN2):c.*1111C>A
|
rs886059884
|
|
NM_001999.4(FBN2):c.*1111C>T
|
rs886059884
|
|
NM_001999.4(FBN2):c.*1420A>C
|
rs886059882
|
|
NM_001999.4(FBN2):c.*1420_*1421dup
|
rs143731656
|
|
NM_001999.4(FBN2):c.*1507A>G
|
rs1764860915
|
|
NM_001999.4(FBN2):c.*284C>T
|
rs886059888
|
|
NM_001999.4(FBN2):c.*322_*323dup
|
rs536242166
|
|
NM_001999.4(FBN2):c.*323dup
|
rs536242166
|
|
NM_001999.4(FBN2):c.*557C>T
|
rs886059887
|
|
NM_001999.4(FBN2):c.*686C>T
|
rs1764882009
|
|
NM_001999.4(FBN2):c.*716A>G
|
rs1581169601
|
|
NM_001999.4(FBN2):c.-173G>A
|
rs1044506328
|
|
NM_001999.4(FBN2):c.-173G>C
|
rs1044506328
|
|
NM_001999.4(FBN2):c.-190C>G
|
rs998131843
|
|
NM_001999.4(FBN2):c.-430A>C
|
rs1756908339
|
|
NM_001999.4(FBN2):c.1007A>G (p.Asn336Ser)
|
rs1752993803
|
|
NM_001999.4(FBN2):c.1012G>T (p.Val338Leu)
|
|
|
NM_001999.4(FBN2):c.1030G>T (p.Val344Phe)
|
|
|
NM_001999.4(FBN2):c.104C>T (p.Pro35Leu)
|
rs2112810970
|
|
NM_001999.4(FBN2):c.1061A>T (p.Asp354Val)
|
|
|
NM_001999.4(FBN2):c.1069C>T (p.Arg357Ter)
|
rs1752991946
|
|
NM_001999.4(FBN2):c.1070G>T (p.Arg357Leu)
|
|
|
NM_001999.4(FBN2):c.1072T>C (p.Cys358Arg)
|
|
|
NM_001999.4(FBN2):c.1075A>G (p.Ile359Val)
|
|
|
NM_001999.4(FBN2):c.1078+5G>A
|
rs1752991507
|
|
NM_001999.4(FBN2):c.1078G>C (p.Asp360His)
|
|
|
NM_001999.4(FBN2):c.107A>G (p.Lys36Arg)
|
|
|
NM_001999.4(FBN2):c.1107C>T (p.Gly369=)
|
rs1060503505
|
|
NM_001999.4(FBN2):c.112C>T (p.Pro38Ser)
|
|
|
NM_001999.4(FBN2):c.1145G>C (p.Arg382Thr)
|
|
|
NM_001999.4(FBN2):c.1156A>G (p.Met386Val)
|
|
|
NM_001999.4(FBN2):c.116_130dup (p.Pro43_Pro44insArgProGlnProPro)
|
|
|
NM_001999.4(FBN2):c.117del (p.Gln41fs)
|
|
|
NM_001999.4(FBN2):c.1189G>A (p.Gly397Ser)
|
|
|
NM_001999.4(FBN2):c.118C>T (p.Pro40Ser)
|
rs2112810915
|
|
NM_001999.4(FBN2):c.1194C>A (p.Ile398=)
|
|
|
NM_001999.4(FBN2):c.1209dup (p.Ala404fs)
|
rs1752614082
|
|
NM_001999.4(FBN2):c.1278T>G (p.Ile426Met)
|
rs1752569770
|
|
NM_001999.4(FBN2):c.1280C>T (p.Pro427Leu)
|
|
|
NM_001999.4(FBN2):c.1288G>T (p.Ala430Ser)
|
|
|
NM_001999.4(FBN2):c.1316del (p.Gly439fs)
|
|
|
NM_001999.4(FBN2):c.1330C>G (p.Pro444Ala)
|
|
|
NM_001999.4(FBN2):c.1340A>G (p.Asn447Ser)
|
rs1554066013
|
|
NM_001999.4(FBN2):c.134A>T (p.Gln45Leu)
|
rs774411616
|
|
NM_001999.4(FBN2):c.1351_1356del (p.Tyr451_Gly452del)
|
rs730880109
|
|
NM_001999.4(FBN2):c.1364G>C (p.Gly455Ala)
|
|
|
NM_001999.4(FBN2):c.1382T>A (p.Ile461Asn)
|
|
|
NM_001999.4(FBN2):c.1421C>G (p.Ala474Gly)
|
|
|
NM_001999.4(FBN2):c.1439G>A (p.Gly480Glu)
|
|
|
NM_001999.4(FBN2):c.1443G>C (p.Gln481His)
|
rs923812426
|
|
NM_001999.4(FBN2):c.1456A>T (p.Thr486Ser)
|
|
|
NM_001999.4(FBN2):c.1489A>G (p.Ile497Val)
|
|
|
NM_001999.4(FBN2):c.1490T>C (p.Ile497Thr)
|
|
|
NM_001999.4(FBN2):c.1491C>G (p.Ile497Met)
|
rs1158937805
|
|
NM_001999.4(FBN2):c.1500T>G (p.His500Gln)
|
|
|
NM_001999.4(FBN2):c.152C>G (p.Thr51Arg)
|
rs1060503509
|
|
NM_001999.4(FBN2):c.1567A>G (p.Met523Val)
|
|
|
NM_001999.4(FBN2):c.1586C>A (p.Ala529Glu)
|
|
|
NM_001999.4(FBN2):c.1600A>G (p.Ile534Val)
|
rs1752527949
|
|
NM_001999.4(FBN2):c.1601T>C (p.Ile534Thr)
|
rs762032979
|
|
NM_001999.4(FBN2):c.1603+6T>C
|
rs1752527763
|
|
NM_001999.4(FBN2):c.1604-1G>A
|
|
|
NM_001999.4(FBN2):c.1612G>A (p.Glu538Lys)
|
rs1561427124
|
|
NM_001999.4(FBN2):c.1616G>T (p.Cys539Phe)
|
rs1456682417
|
|
NM_001999.4(FBN2):c.161C>T (p.Ser54Phe)
|
|
|
NM_001999.4(FBN2):c.1624A>G (p.Asn542Asp)
|
rs781622385
|
|
NM_001999.4(FBN2):c.1626T>A (p.Asn542Lys)
|
rs2126960231
|
|
NM_001999.4(FBN2):c.1637A>C (p.Asn546Thr)
|
|
|
NM_001999.4(FBN2):c.1642G>T (p.Asp548Tyr)
|
rs1581251809
|
|
NM_001999.4(FBN2):c.1658C>G (p.Pro553Arg)
|
rs2126960181
|
|
NM_001999.4(FBN2):c.1660G>C (p.Gly554Arg)
|
rs1283833434
|
|
NM_001999.4(FBN2):c.1681C>T (p.His561Tyr)
|
rs2126960142
|
|
NM_001999.4(FBN2):c.169G>T (p.Gly57Trp)
|
rs2112810796
|
|
NM_001999.4(FBN2):c.16A>T (p.Arg6Trp)
|
|
|
NM_001999.4(FBN2):c.1717T>C (p.Cys573Arg)
|
rs376737293
|
|
NM_001999.4(FBN2):c.1723+3A>G
|
rs2126960065
|
|
NM_001999.4(FBN2):c.1724-2A>G
|
rs876661172
|
|
NM_001999.4(FBN2):c.1729G>A (p.Asp577Asn)
|
rs1230736233
|
|
NM_001999.4(FBN2):c.1760A>G (p.Lys587Arg)
|
rs759733025
|
|
NM_001999.4(FBN2):c.1780A>G (p.Thr594Ala)
|
rs1554064868
|
|
NM_001999.4(FBN2):c.1784A>T (p.Asp595Val)
|
|
|
NM_001999.4(FBN2):c.1797G>T (p.Gln599His)
|
|
|
NM_001999.4(FBN2):c.1799_1800delinsTT (p.Cys600Phe)
|
rs1581251031
|
|
NM_001999.4(FBN2):c.1800delinsTT (p.Ile601fs)
|
|
|
NM_001999.4(FBN2):c.1804del (p.Cys602fs)
|
rs886038824
|
|
NM_001999.4(FBN2):c.1814G>T (p.Gly605Val)
|
rs1581250994
|
|
NM_001999.4(FBN2):c.1831G>A (p.Asp611Asn)
|
|
|
NM_001999.4(FBN2):c.1844G>T (p.Cys615Phe)
|
rs1060503507
|
|
NM_001999.4(FBN2):c.1862G>A (p.Cys621Tyr)
|
rs1752093236
|
|
NM_001999.4(FBN2):c.1888G>A (p.Gly630Arg)
|
rs1060503499
|
|
NM_001999.4(FBN2):c.18G>T (p.Arg6Ser)
|
|
|
NM_001999.4(FBN2):c.1901A>G (p.Asn634Ser)
|
rs748715881
|
|
NM_001999.4(FBN2):c.193G>C (p.Glu65Gln)
|
rs1561504900
|
|
NM_001999.4(FBN2):c.1943T>C (p.Val648Ala)
|
|
|
NM_001999.4(FBN2):c.1988A>C (p.Gln663Pro)
|
rs863223556
|
|
NM_001999.4(FBN2):c.1991C>T (p.Thr664Ile)
|
rs2126954772
|
|
NM_001999.4(FBN2):c.2030A>G (p.Glu677Gly)
|
rs2126954710
|
|
NM_001999.4(FBN2):c.2034G>T (p.Gly678=)
|
rs1357250229
|
|
NM_001999.4(FBN2):c.2045G>A (p.Cys682Tyr)
|
rs1752034896
|
|
NM_001999.4(FBN2):c.2054C>T (p.Pro685Leu)
|
rs1581249148
|
|
NM_001999.4(FBN2):c.2056C>T (p.Pro686Ser)
|
rs1752034485
|
|
NM_001999.4(FBN2):c.2060G>T (p.Gly687Val)
|
rs769947673
|
|
NM_001999.4(FBN2):c.2065_2066delinsAA (p.Ala689Asn)
|
rs869025430
|
|
NM_001999.4(FBN2):c.2066C>G (p.Ala689Gly)
|
rs781745158
|
|
NM_001999.4(FBN2):c.206C>T (p.Ala69Val)
|
rs1756883252
|
|
NM_001999.4(FBN2):c.2081G>C (p.Gly694Ala)
|
|
|
NM_001999.4(FBN2):c.2089T>C (p.Cys697Arg)
|
|
|
NM_001999.4(FBN2):c.208G>C (p.Val70Leu)
|
rs1756883199
|
|
NM_001999.4(FBN2):c.2092G>T (p.Val698Phe)
|
|
|
NM_001999.4(FBN2):c.2095+1G>A
|
|
|
NM_001999.4(FBN2):c.2095+2_2095+7del
|
rs1752033073
|
|
NM_001999.4(FBN2):c.2095+5G>A
|
rs2126954577
|
|
NM_001999.4(FBN2):c.2098A>G (p.Thr700Ala)
|
|
|
NM_001999.4(FBN2):c.209T>A (p.Val70Glu)
|
|
|
NM_001999.4(FBN2):c.2105T>G (p.Met702Arg)
|
rs2126947635
|
|
NM_001999.4(FBN2):c.2107C>T (p.Arg703Cys)
|
rs748861935
|
|
NM_001999.4(FBN2):c.2108G>T (p.Arg703Leu)
|
|
|
NM_001999.4(FBN2):c.212C>G (p.Ala71Gly)
|
|
|
NM_001999.4(FBN2):c.2132A>G (p.Lys711Arg)
|
rs1006288282
|
|
NM_001999.4(FBN2):c.2140G>A (p.Val714Met)
|
|
|
NM_001999.4(FBN2):c.2148_2151dup (p.Pro718fs)
|
rs2126947501
|
|
NM_001999.4(FBN2):c.2164G>T (p.Ala722Ser)
|
|
|
NM_001999.4(FBN2):c.2171C>T (p.Thr724Ile)
|
|
|
NM_001999.4(FBN2):c.2175G>C (p.Lys725Asn)
|
rs2126947449
|
|
NM_001999.4(FBN2):c.2204A>G (p.Tyr735Cys)
|
rs1199450063
|
|
NM_001999.4(FBN2):c.2227C>T (p.Pro743Ser)
|
rs1554064242
|
|
NM_001999.4(FBN2):c.2248+4G>A
|
rs752467521
|
|
NM_001999.4(FBN2):c.2260G>C (p.Gly754Arg)
|
rs145259927
|
|
NM_001999.4(FBN2):c.2303-2A>G
|
rs1751723379
|
|
NM_001999.4(FBN2):c.2326C>T (p.Pro776Ser)
|
|
|
NM_001999.4(FBN2):c.2329G>A (p.Asp777Asn)
|
|
|
NM_001999.4(FBN2):c.2334A>G (p.Ile778Met)
|
|
|
NM_001999.4(FBN2):c.2335T>C (p.Cys779Arg)
|
rs1751722668
|
|
NM_001999.4(FBN2):c.2356A>C (p.Asn786His)
|
|
|
NM_001999.4(FBN2):c.2365G>C (p.Gly789Arg)
|
rs886038969
|
|
NM_001999.4(FBN2):c.2392G>A (p.Gly798Ser)
|
rs1554063781
|
|
NM_001999.4(FBN2):c.239A>G (p.Gln80Arg)
|
|
|
NM_001999.4(FBN2):c.2406T>A (p.Asp802Glu)
|
rs568169177
|
|
NM_001999.4(FBN2):c.2406T>G (p.Asp802Glu)
|
rs568169177
|
|
NM_001999.4(FBN2):c.2428+1G>T
|
rs1751719964
|
|
NM_001999.4(FBN2):c.2429-1G>A
|
rs1270553787
|
|
NM_001999.4(FBN2):c.2475G>T (p.Leu825Phe)
|
|
|
NM_001999.4(FBN2):c.2492G>A (p.Gly831Glu)
|
rs2126937089
|
|
NM_001999.4(FBN2):c.2506A>T (p.Thr836Ser)
|
|
|
NM_001999.4(FBN2):c.2507C>T (p.Thr836Met)
|
rs957177447
|
|
NM_001999.4(FBN2):c.2515C>A (p.Pro839Thr)
|
rs751263399
|
|
NM_001999.4(FBN2):c.2530A>G (p.Arg844Gly)
|
|
|
NM_001999.4(FBN2):c.2539A>G (p.Thr847Ala)
|
rs878854474
|
|
NM_001999.4(FBN2):c.254+5G>A
|
|
|
NM_001999.4(FBN2):c.255-3C>G
|
rs2112809259
|
|
NM_001999.4(FBN2):c.2554+5G>T
|
rs2126936993
|
|
NM_001999.4(FBN2):c.2557A>C (p.Ile853Leu)
|
rs148598779
|
|
NM_001999.4(FBN2):c.2557A>G (p.Ile853Val)
|
rs148598779
|
|
NM_001999.4(FBN2):c.256C>T (p.Pro86Ser)
|
|
|
NM_001999.4(FBN2):c.259A>G (p.Asn87Asp)
|
rs756569459
|
|
NM_001999.4(FBN2):c.2606A>C (p.Asn869Thr)
|
|
|
NM_001999.4(FBN2):c.2611G>C (p.Gly871Arg)
|
rs1751526889
|
|
NM_001999.4(FBN2):c.2615C>A (p.Ser872Tyr)
|
|
|
NM_001999.4(FBN2):c.262G>C (p.Val88Leu)
|
|
|
NM_001999.4(FBN2):c.2639G>A (p.Gly880Asp)
|
|
|
NM_001999.4(FBN2):c.2645A>G (p.Lys882Arg)
|
rs1168151418
|
|
NM_001999.4(FBN2):c.2648T>A (p.Leu883His)
|
|
|
NM_001999.4(FBN2):c.2674+6A>T
|
rs1381952326
|
|
NM_001999.4(FBN2):c.2676C>G (p.Asp892Glu)
|
|
|
NM_001999.4(FBN2):c.2698C>G (p.Leu900Val)
|
rs1057524854
|
|
NM_001999.4(FBN2):c.2701A>G (p.Asn901Asp)
|
|
|
NM_001999.4(FBN2):c.2725G>A (p.Val909Met)
|
|
|
NM_001999.4(FBN2):c.2735A>G (p.Asn912Ser)
|
|
|
NM_001999.4(FBN2):c.2773G>A (p.Gly925Arg)
|
rs111405756
|
|
NM_001999.4(FBN2):c.2773G>T (p.Gly925Ter)
|
rs111405756
|
|
NM_001999.4(FBN2):c.2779G>A (p.Ala927Thr)
|
rs863223559
|
|
NM_001999.4(FBN2):c.2779G>T (p.Ala927Ser)
|
rs863223559
|
|
NM_001999.4(FBN2):c.2782T>G (p.Trp928Gly)
|
|
|
NM_001999.4(FBN2):c.2791C>T (p.Pro931Ser)
|
rs779579749
|
|
NM_001999.4(FBN2):c.2800C>T (p.Arg934Trp)
|
|
|
NM_001999.4(FBN2):c.2809C>G (p.Leu937Val)
|
|
|
NM_001999.4(FBN2):c.2813A>G (p.Asp938Gly)
|
|
|
NM_001999.4(FBN2):c.2819C>T (p.Ala940Val)
|
rs1751304507
|
|
NM_001999.4(FBN2):c.2822G>A (p.Cys941Tyr)
|
|
|
NM_001999.4(FBN2):c.2825C>G (p.Pro942Arg)
|
rs1751304438
|
|
NM_001999.4(FBN2):c.2827A>G (p.Arg943Gly)
|
rs863223560
|
|
NM_001999.4(FBN2):c.2839A>G (p.Arg947Gly)
|
|
|
NM_001999.4(FBN2):c.2855C>G (p.Thr952Arg)
|
rs766590294
|
|
NM_001999.4(FBN2):c.2863+13T>G
|
|
|
NM_001999.4(FBN2):c.2863+19G>A
|
|
|
NM_001999.4(FBN2):c.2863+5G>A
|
|
|
NM_001999.4(FBN2):c.286T>C (p.Tyr96His)
|
|
|
NM_001999.4(FBN2):c.2879A>G (p.Glu960Gly)
|
|
|
NM_001999.4(FBN2):c.2882T>A (p.Val961Glu)
|
rs1025184275
|
|
NM_001999.4(FBN2):c.2890G>T (p.Gly964Cys)
|
rs2126919911
|
|
NM_001999.4(FBN2):c.2891G>A (p.Gly964Asp)
|
rs1554124089
|
|
NM_001999.4(FBN2):c.2921_2989+510delinsCATA
|
|
|
NM_001999.4(FBN2):c.2926G>A (p.Gly976Arg)
|
rs1751283602
|
|
NM_001999.4(FBN2):c.2940C>A (p.Cys980Ter)
|
|
|
NM_001999.4(FBN2):c.2945G>A (p.Cys982Tyr)
|
rs1057519321
|
|
NM_001999.4(FBN2):c.2945G>T (p.Cys982Phe)
|
rs1057519321
|
|
NM_001999.4(FBN2):c.2957T>C (p.Leu986Pro)
|
rs1751282501
|
|
NM_001999.4(FBN2):c.295C>G (p.Pro99Ala)
|
rs1756849074
|
|
NM_001999.4(FBN2):c.2968G>A (p.Gly990Arg)
|
rs749854367
|
|
NM_001999.4(FBN2):c.2996G>A (p.Arg999His)
|
rs1342942240
|
|
NM_001999.4(FBN2):c.3003G>C (p.Glu1001Asp)
|
rs1064797312
|
|
NM_001999.4(FBN2):c.3010T>C (p.Tyr1004His)
|
|
|
NM_001999.4(FBN2):c.3019T>A (p.Trp1007Arg)
|
|
|
NM_001999.4(FBN2):c.3019T>C (p.Trp1007Arg)
|
|
|
NM_001999.4(FBN2):c.3039C>G (p.Ile1013Met)
|
rs1388119592
|
|
NM_001999.4(FBN2):c.3046G>T (p.Val1016Phe)
|
|
|
NM_001999.4(FBN2):c.3049C>A (p.Pro1017Thr)
|
rs375187779
|
|
NM_001999.4(FBN2):c.3057G>C (p.Lys1019Asn)
|
rs863223561
|
|
NM_001999.4(FBN2):c.3058T>C (p.Phe1020Leu)
|
rs984782865
|
|
NM_001999.4(FBN2):c.305A>G (p.Lys102Arg)
|
rs1756848859
|
|
NM_001999.4(FBN2):c.3062G>A (p.Arg1021His)
|
rs139620380
|
|
NM_001999.4(FBN2):c.3062G>C (p.Arg1021Pro)
|
rs139620380
|
|
NM_001999.4(FBN2):c.3066G>A (p.Met1022Ile)
|
rs952236163
|
|
NM_001999.4(FBN2):c.3092C>A (p.Ala1031Glu)
|
rs754884110
|
|
NM_001999.4(FBN2):c.3106G>C (p.Glu1036Gln)
|
rs773473369
|
|
NM_001999.4(FBN2):c.3107A>G (p.Glu1036Gly)
|
|
|
NM_001999.4(FBN2):c.311T>A (p.Leu104His)
|
|
|
NM_001999.4(FBN2):c.3126A>T (p.Lys1042Asn)
|
|
|
NM_001999.4(FBN2):c.3160C>T (p.Arg1054Cys)
|
rs869025427
|
|
NM_001999.4(FBN2):c.3163G>A (p.Gly1055Arg)
|
rs1372203787
|
|
NM_001999.4(FBN2):c.3190G>A (p.Val1064Ile)
|
|
|
NM_001999.4(FBN2):c.3196dup (p.Thr1066fs)
|
rs1554123702
|
|
NM_001999.4(FBN2):c.319G>A (p.Gly107Arg)
|
rs2112809157
|
|
NM_001999.4(FBN2):c.3200G>C (p.Gly1067Ala)
|
rs1751146734
|
|
NM_001999.4(FBN2):c.320G>A (p.Gly107Glu)
|
|
|
NM_001999.4(FBN2):c.3211T>C (p.Tyr1071His)
|
rs2126913738
|
|
NM_001999.4(FBN2):c.3215A>G (p.Lys1072Arg)
|
|
|
NM_001999.4(FBN2):c.3217+1G>A
|
rs2126913719
|
|
NM_001999.4(FBN2):c.3217+6T>C
|
|
|
NM_001999.4(FBN2):c.3218-13A>T
|
rs200543836
|
|
NM_001999.4(FBN2):c.3218-5T>G
|
rs1554123647
|
|
NM_001999.4(FBN2):c.3220A>G (p.Ile1074Val)
|
rs1218249269
|
|
NM_001999.4(FBN2):c.3228A>C (p.Glu1076Asp)
|
rs1751116346
|
|
NM_001999.4(FBN2):c.3260G>A (p.Gly1087Glu)
|
rs1751115198
|
|
NM_001999.4(FBN2):c.3290A>G (p.Lys1097Arg)
|
|
|
NM_001999.4(FBN2):c.3322A>G (p.Met1108Val)
|
rs148127874
|
|
NM_001999.4(FBN2):c.3331A>G (p.Arg1111Gly)
|
rs1751112929
|
|
NM_001999.4(FBN2):c.3335A>G (p.Asn1112Ser)
|
|
|
NM_001999.4(FBN2):c.3345C>G (p.Asp1115Glu)
|
|
|
NM_001999.4(FBN2):c.3346A>G (p.Ile1116Val)
|
|
|
NM_001999.4(FBN2):c.3351C>G (p.Asp1117Glu)
|
|
|
NM_001999.4(FBN2):c.336C>T (p.Val112=)
|
|
|
NM_001999.4(FBN2):c.338C>T (p.Pro113Leu)
|
|
|
NM_001999.4(FBN2):c.3398A>G (p.Asn1133Ser)
|
rs2126903780
|
|
NM_001999.4(FBN2):c.3413T>G (p.Phe1138Cys)
|
|
|
NM_001999.4(FBN2):c.3421G>A (p.Glu1141Lys)
|
|
|
NM_001999.4(FBN2):c.3428T>C (p.Phe1143Ser)
|
rs1750918793
|
|
NM_001999.4(FBN2):c.3429C>A (p.Phe1143Leu)
|
rs886059901
|
|
NM_001999.4(FBN2):c.3437A>G (p.Tyr1146Cys)
|
rs1750918319
|
|
NM_001999.4(FBN2):c.3441A>C (p.Glu1147Asp)
|
rs1750918059
|
|
NM_001999.4(FBN2):c.3446G>C (p.Gly1149Ala)
|
|
|
NM_001999.4(FBN2):c.3451A>G (p.Met1151Val)
|
rs1042256829
|
|
NM_001999.4(FBN2):c.3452T>C (p.Met1151Thr)
|
|
|
NM_001999.4(FBN2):c.3455T>C (p.Met1152Thr)
|
|
|
NM_001999.4(FBN2):c.3469A>G (p.Met1157Val)
|
rs876661190
|
|
NM_001999.4(FBN2):c.3472+3A>G
|
rs1750917005
|
|
NM_001999.4(FBN2):c.3481G>A (p.Glu1161Lys)
|
rs1554123065
|
|
NM_001999.4(FBN2):c.3490C>T (p.Arg1164Cys)
|
rs886039059
|
|
NM_001999.4(FBN2):c.3491G>T (p.Arg1164Leu)
|
|
|
NM_001999.4(FBN2):c.3495C>G (p.Asn1165Lys)
|
rs774250442
|
|
NM_001999.4(FBN2):c.349_352del (p.Asn117fs)
|
|
|
NM_001999.4(FBN2):c.3507T>C (p.Cys1169=)
|
rs1750894040
|
|
NM_001999.4(FBN2):c.350A>G (p.Asn117Ser)
|
rs1756677980
|
|
NM_001999.4(FBN2):c.3515G>A (p.Gly1172Asp)
|
rs931046977
|
|
NM_001999.4(FBN2):c.3520T>C (p.Cys1174Arg)
|
rs1554123060
|
|
NM_001999.4(FBN2):c.3521G>T (p.Cys1174Phe)
|
rs1581226080
|
|
NM_001999.4(FBN2):c.3584G>C (p.Arg1195Pro)
|
|
|
NM_001999.4(FBN2):c.3597G>C (p.Val1199=)
|
|
|
NM_001999.4(FBN2):c.3614C>A (p.Ser1205Tyr)
|
rs1389689622
|
|
NM_001999.4(FBN2):c.3617T>C (p.Leu1206Pro)
|
rs1581224796
|
|
NM_001999.4(FBN2):c.3654C>G (p.Asn1218Lys)
|
|
|
NM_001999.4(FBN2):c.3668A>G (p.Tyr1223Cys)
|
|
|
NM_001999.4(FBN2):c.3676T>G (p.Ser1226Ala)
|
rs202072752
|
|
NM_001999.4(FBN2):c.3689G>C (p.Gly1230Ala)
|
rs1047464870
|
|
NM_001999.4(FBN2):c.3713A>T (p.Gln1238Leu)
|
|
|
NM_001999.4(FBN2):c.3715G>A (p.Gly1239Ser)
|
rs778784375
|
|
NM_001999.4(FBN2):c.3724G>A (p.Asp1242Asn)
|
|
|
NM_001999.4(FBN2):c.3725-3C>T
|
|
|
NM_001999.4(FBN2):c.3727A>G (p.Ile1243Val)
|
|
|
NM_001999.4(FBN2):c.3728T>C (p.Ile1243Thr)
|
rs1306804578
|
|
NM_001999.4(FBN2):c.3752G>A (p.Gly1251Glu)
|
rs767644891
|
|
NM_001999.4(FBN2):c.3761A>G (p.Asp1254Gly)
|
rs1750812827
|
|
NM_001999.4(FBN2):c.3773C>G (p.Thr1258Arg)
|
|
|
NM_001999.4(FBN2):c.3776A>T (p.Asn1259Ile)
|
rs1554122848
|
|
NM_001999.4(FBN2):c.3784G>A (p.Gly1262Arg)
|
|
|
NM_001999.4(FBN2):c.3790T>A (p.Tyr1264Asn)
|
|
|
NM_001999.4(FBN2):c.3814T>A (p.Tyr1272Asn)
|
|
|
NM_001999.4(FBN2):c.3815A>C (p.Tyr1272Ser)
|
|
|
NM_001999.4(FBN2):c.3830A>T (p.Asp1277Val)
|
|
|
NM_001999.4(FBN2):c.3835A>G (p.Arg1279Gly)
|
rs1561776564
|
|
NM_001999.4(FBN2):c.3847+5A>G
|
rs1444917250
|
|
NM_001999.4(FBN2):c.3869A>G (p.Asn1290Ser)
|
rs747182286
|
|
NM_001999.4(FBN2):c.3871C>A (p.Pro1291Thr)
|
|
|
NM_001999.4(FBN2):c.3878T>C (p.Ile1293Thr)
|
rs1750804361
|
|
NM_001999.4(FBN2):c.3889G>T (p.Gly1297Cys)
|
rs755489065
|
|
NM_001999.4(FBN2):c.3907C>A (p.Pro1303Thr)
|
rs2126896759
|
|
NM_001999.4(FBN2):c.3960G>T (p.Met1320Ile)
|
rs1554122803
|
|
NM_001999.4(FBN2):c.3967T>C (p.Cys1323Arg)
|
|
|
NM_001999.4(FBN2):c.3974-3T>A
|
|
|
NM_001999.4(FBN2):c.3974-7T>G
|
|
|
NM_001999.4(FBN2):c.3974-9A>G
|
|
|
NM_001999.4(FBN2):c.3982G>A (p.Glu1328Lys)
|
|
|
NM_001999.4(FBN2):c.3984A>T (p.Glu1328Asp)
|
rs1394998823
|
|
NM_001999.4(FBN2):c.4035G>C (p.Lys1345Asn)
|
|
|
NM_001999.4(FBN2):c.4040C>T (p.Ser1347Phe)
|
|
|
NM_001999.4(FBN2):c.4042T>C (p.Phe1348Leu)
|
|
|
NM_001999.4(FBN2):c.4053C>G (p.His1351Gln)
|
|
|
NM_001999.4(FBN2):c.4064G>A (p.Gly1355Asp)
|
|
|
NM_001999.4(FBN2):c.4090G>C (p.Gly1364Arg)
|
rs1750789808
|
|
NM_001999.4(FBN2):c.4094G>C (p.Cys1365Ser)
|
rs1581223610
|
|
NM_001999.4(FBN2):c.4110G>A (p.Glu1370=)
|
rs1205541313
|
|
NM_001999.4(FBN2):c.4118T>C (p.Ile1373Thr)
|
rs971727405
|
|
NM_001999.4(FBN2):c.4127A>G (p.His1376Arg)
|
rs1255550274
|
|
NM_001999.4(FBN2):c.4135G>C (p.Asp1379His)
|
|
|
NM_001999.4(FBN2):c.4157A>C (p.Asn1386Thr)
|
|
|
NM_001999.4(FBN2):c.4198A>G (p.Ile1400Val)
|
rs1750732608
|
|
NM_001999.4(FBN2):c.4201G>A (p.Gly1401Arg)
|
rs1554122552
|
|
NM_001999.4(FBN2):c.4201G>C (p.Gly1401Arg)
|
rs1554122552
|
|
NM_001999.4(FBN2):c.4230C>A (p.Asp1410Glu)
|
|
|
NM_001999.4(FBN2):c.4231G>A (p.Glu1411Lys)
|
rs866719857
|
|
NM_001999.4(FBN2):c.4244G>T (p.Gly1415Val)
|
rs2126889179
|
|
NM_001999.4(FBN2):c.4247C>A (p.Thr1416Asn)
|
rs1750669779
|
|
NM_001999.4(FBN2):c.4247C>T (p.Thr1416Ile)
|
rs1750669779
|
|
NM_001999.4(FBN2):c.4249C>T (p.His1417Tyr)
|
rs863223572
|
|
NM_001999.4(FBN2):c.425G>C (p.Gly142Ala)
|
rs1060503506
|
|
NM_001999.4(FBN2):c.4261A>C (p.Ile1421Leu)
|
rs863223607
|
|
NM_001999.4(FBN2):c.4268C>T (p.Ala1423Val)
|
|
|
NM_001999.4(FBN2):c.4289G>A (p.Gly1430Asp)
|
|
|
NM_001999.4(FBN2):c.4292C>T (p.Ser1431Leu)
|
|
|
NM_001999.4(FBN2):c.4303G>T (p.Ala1435Ser)
|
|
|
NM_001999.4(FBN2):c.4322C>T (p.Thr1441Ile)
|
rs1750666696
|
|
NM_001999.4(FBN2):c.434C>A (p.Ser145Ter)
|
|
|
NM_001999.4(FBN2):c.435A>G (p.Ser145=)
|
|
|
NM_001999.4(FBN2):c.436+4T>G
|
|
|
NM_001999.4(FBN2):c.4360G>A (p.Ala1454Thr)
|
|
|
NM_001999.4(FBN2):c.437-1G>A
|
rs1180913191
|
|
NM_001999.4(FBN2):c.4382A>G (p.Glu1461Gly)
|
rs1750620648
|
|
NM_001999.4(FBN2):c.4390C>G (p.Gln1464Glu)
|
rs1750620267
|
|
NM_001999.4(FBN2):c.4444C>G (p.Pro1482Ala)
|
|
|
NM_001999.4(FBN2):c.4444C>T (p.Pro1482Ser)
|
rs1022830212
|
|
NM_001999.4(FBN2):c.4471+6T>G
|
|
|
NM_001999.4(FBN2):c.4472-2A>G
|
rs1554121102
|
|
NM_001999.4(FBN2):c.4472-3C>T
|
|
|
NM_001999.4(FBN2):c.4487C>T (p.Ser1496Phe)
|
|
|
NM_001999.4(FBN2):c.449G>T (p.Ser150Ile)
|
rs779482726
|
|
NM_001999.4(FBN2):c.4513A>G (p.Thr1505Ala)
|
rs1581212696
|
|
NM_001999.4(FBN2):c.4559G>T (p.Gly1520Val)
|
rs886038767
|
|
NM_001999.4(FBN2):c.4571A>G (p.Asp1524Gly)
|
|
|
NM_001999.4(FBN2):c.4577C>G (p.Thr1526Arg)
|
rs2126854542
|
|
NM_001999.4(FBN2):c.4589G>A (p.Cys1530Tyr)
|
rs2126854530
|
|
NM_001999.4(FBN2):c.4594+3A>G
|
|
|
NM_001999.4(FBN2):c.4594G>A (p.Asp1532Asn)
|
rs863223574
|
|
NM_001999.4(FBN2):c.4594G>T (p.Asp1532Tyr)
|
|
|
NM_001999.4(FBN2):c.4627G>A (p.Val1543Ile)
|
rs1554121038
|
|
NM_001999.4(FBN2):c.4649C>T (p.Thr1550Met)
|
|
|
NM_001999.4(FBN2):c.4657C>G (p.Arg1553Gly)
|
|
|
NM_001999.4(FBN2):c.4658G>C (p.Arg1553Pro)
|
|
|
NM_001999.4(FBN2):c.4661A>T (p.Tyr1554Phe)
|
|
|
NM_001999.4(FBN2):c.4696C>A (p.Pro1566Thr)
|
|
|
NM_001999.4(FBN2):c.4709G>C (p.Gly1570Ala)
|
|
|
NM_001999.4(FBN2):c.4709G>T (p.Gly1570Val)
|
|
|
NM_001999.4(FBN2):c.4714G>T (p.Val1572Phe)
|
rs535517270
|
|
NM_001999.4(FBN2):c.4717+8A>G
|
rs1750262267
|
|
NM_001999.4(FBN2):c.4727T>C (p.Val1576Ala)
|
rs1581208599
|
|
NM_001999.4(FBN2):c.4738T>C (p.Tyr1580His)
|
rs1060503508
|
|
NM_001999.4(FBN2):c.4748T>C (p.Phe1583Ser)
|
|
|
NM_001999.4(FBN2):c.4770T>G (p.Ser1590Arg)
|
rs1295579995
|
|
NM_001999.4(FBN2):c.4824C>T (p.Cys1608=)
|
rs886059899
|
|
NM_001999.4(FBN2):c.4829T>C (p.Leu1610Pro)
|
rs886038891
|
|
NM_001999.4(FBN2):c.4835A>G (p.Lys1612Arg)
|
rs2126847622
|
|
NM_001999.4(FBN2):c.4838C>G (p.Ala1613Gly)
|
|
|
NM_001999.4(FBN2):c.4863C>G (p.Cys1621Trp)
|
rs1420949011
|
|
NM_001999.4(FBN2):c.4864C>G (p.Pro1622Ala)
|
rs750116860
|
|
NM_001999.4(FBN2):c.4877G>A (p.Ser1626Asn)
|
|
|
NM_001999.4(FBN2):c.4877G>T (p.Ser1626Ile)
|
rs1403929477
|
|
NM_001999.4(FBN2):c.4879A>C (p.Thr1627Pro)
|
rs1561765113
|
|
NM_001999.4(FBN2):c.4884A>C (p.Glu1628Asp)
|
|
|
NM_001999.4(FBN2):c.489C>G (p.His163Gln)
|
rs2112798145
|
|
NM_001999.4(FBN2):c.4919G>T (p.Arg1640Ile)
|
|
|
NM_001999.4(FBN2):c.4924A>G (p.Asn1642Asp)
|
|
|
NM_001999.4(FBN2):c.4925A>G (p.Asn1642Ser)
|
|
|
NM_001999.4(FBN2):c.4928C>G (p.Pro1643Arg)
|
rs863223609
|
|
NM_001999.4(FBN2):c.4957G>A (p.Glu1653Lys)
|
|
|
NM_001999.4(FBN2):c.4959A>C (p.Glu1653Asp)
|
rs1554120359
|
|
NM_001999.4(FBN2):c.4961G>T (p.Cys1654Phe)
|
|
|
NM_001999.4(FBN2):c.5037A>C (p.Gln1679His)
|
rs1554120349
|
|
NM_001999.4(FBN2):c.5045A>G (p.Tyr1682Cys)
|
rs769474473
|
|
NM_001999.4(FBN2):c.5050A>G (p.Ser1684Gly)
|
rs863223577
|
|
NM_001999.4(FBN2):c.5069G>A (p.Cys1690Tyr)
|
rs1554120340
|
|
NM_001999.4(FBN2):c.5073A>G (p.Glu1691=)
|
|
|
NM_001999.4(FBN2):c.5075A>G (p.Asp1692Gly)
|
|
|
NM_001999.4(FBN2):c.5078T>G (p.Ile1693Ser)
|
|
|
NM_001999.4(FBN2):c.5093C>T (p.Ala1698Val)
|
|
|
NM_001999.4(FBN2):c.5116G>C (p.Gly1706Arg)
|
|
|
NM_001999.4(FBN2):c.5119A>T (p.Thr1707Ser)
|
rs1749990667
|
|
NM_001999.4(FBN2):c.514G>A (p.Gly172Arg)
|
|
|
NM_001999.4(FBN2):c.5150G>T (p.Cys1717Phe)
|
rs1554120186
|
|
NM_001999.4(FBN2):c.5183G>T (p.Gly1728Val)
|
|
|
NM_001999.4(FBN2):c.5200+5_5200+10del
|
|
|
NM_001999.4(FBN2):c.523T>C (p.Cys175Arg)
|
rs886038942
|
|
NM_001999.4(FBN2):c.5240C>G (p.Thr1747Ser)
|
|
|
NM_001999.4(FBN2):c.5242A>G (p.Thr1748Ala)
|
|
|
NM_001999.4(FBN2):c.5279G>C (p.Arg1760Thr)
|
rs748580764
|
|
NM_001999.4(FBN2):c.5280G>T (p.Arg1760Ser)
|
rs886059898
|
|
NM_001999.4(FBN2):c.5281A>T (p.Met1761Leu)
|
rs886059897
|
|
NM_001999.4(FBN2):c.5283G>T (p.Met1761Ile)
|
rs2126842957
|
|
NM_001999.4(FBN2):c.5312C>T (p.Ala1771Val)
|
rs2126842904
|
|
NM_001999.4(FBN2):c.531A>G (p.Gln177=)
|
rs863223544
|
|
NM_001999.4(FBN2):c.532+1G>A
|
|
|
NM_001999.4(FBN2):c.533-11T>A
|
|
|
NM_001999.4(FBN2):c.5332C>A (p.Pro1778Thr)
|
|
|
NM_001999.4(FBN2):c.5339C>G (p.Pro1780Arg)
|
|
|
NM_001999.4(FBN2):c.5344C>T (p.Pro1782Ser)
|
rs1554120093
|
|
NM_001999.4(FBN2):c.535G>C (p.Val179Leu)
|
|
|
NM_001999.4(FBN2):c.5401A>G (p.Ile1801Val)
|
|
|
NM_001999.4(FBN2):c.5420T>C (p.Val1807Ala)
|
|
|
NM_001999.4(FBN2):c.5423-17A>G
|
rs2126839337
|
|
NM_001999.4(FBN2):c.5423-1G>C
|
|
|
NM_001999.4(FBN2):c.5429A>G (p.Asp1810Gly)
|
rs1749861614
|
|
NM_001999.4(FBN2):c.5443A>T (p.Ile1815Phe)
|
|
|
NM_001999.4(FBN2):c.5446C>G (p.Pro1816Ala)
|
rs1561760487
|
|
NM_001999.4(FBN2):c.5450G>T (p.Gly1817Val)
|
|
|
NM_001999.4(FBN2):c.5462A>G (p.Asn1821Ser)
|
|
|
NM_001999.4(FBN2):c.5484T>G (p.Ile1828Met)
|
|
|
NM_001999.4(FBN2):c.5493C>G (p.Phe1831Leu)
|
|
|
NM_001999.4(FBN2):c.5534T>G (p.Leu1845Arg)
|
rs1749856162
|
|
NM_001999.4(FBN2):c.5548G>A (p.Asp1850Asn)
|
|
|
NM_001999.4(FBN2):c.5552T>C (p.Ile1851Thr)
|
|
|
NM_001999.4(FBN2):c.5552T>G (p.Ile1851Arg)
|
|
|
NM_001999.4(FBN2):c.5555A>G (p.Asp1852Gly)
|
rs1749848470
|
|
NM_001999.4(FBN2):c.5555A>T (p.Asp1852Val)
|
|
|
NM_001999.4(FBN2):c.5568T>A (p.Asn1856Lys)
|
rs1201284691
|
|
NM_001999.4(FBN2):c.5569G>A (p.Gly1857Ser)
|
rs2126838900
|
|
NM_001999.4(FBN2):c.5579T>C (p.Leu1860Pro)
|
|
|
NM_001999.4(FBN2):c.5588G>A (p.Arg1863Gln)
|
rs1447600676
|
|
NM_001999.4(FBN2):c.5596G>A (p.Asp1866Asn)
|
|
|
NM_001999.4(FBN2):c.5597A>G (p.Asp1866Gly)
|
|
|
NM_001999.4(FBN2):c.55G>A (p.Val19Met)
|
rs1357709072
|
|
NM_001999.4(FBN2):c.5606A>G (p.Asn1869Ser)
|
rs1749845932
|
|
NM_001999.4(FBN2):c.5617A>C (p.Ser1873Arg)
|
rs1060503504
|
|
NM_001999.4(FBN2):c.5617dup (p.Ser1873fs)
|
rs1561760194
|
|
NM_001999.4(FBN2):c.5632T>C (p.Cys1878Arg)
|
rs1248957106
|
|
NM_001999.4(FBN2):c.5674+4A>G
|
rs778011355
|
|
NM_001999.4(FBN2):c.5690T>C (p.Leu1897Ser)
|
|
|
NM_001999.4(FBN2):c.5692G>C (p.Glu1898Gln)
|
rs767932789
|
|
NM_001999.4(FBN2):c.5704G>T (p.Val1902Phe)
|
|
|
NM_001999.4(FBN2):c.5741G>A (p.Ser1914Asn)
|
|
|
NM_001999.4(FBN2):c.5750G>A (p.Cys1917Tyr)
|
|
|
NM_001999.4(FBN2):c.5780A>C (p.Gln1927Pro)
|
|
|
NM_001999.4(FBN2):c.5789C>A (p.Thr1930Asn)
|
|
|
NM_001999.4(FBN2):c.578C>T (p.Pro193Leu)
|
|
|
NM_001999.4(FBN2):c.5800+6A>T
|
rs2126838039
|
|
NM_001999.4(FBN2):c.5804_5806del (p.Val1935del)
|
rs1554119538
|
|
NM_001999.4(FBN2):c.583C>T (p.Arg195Cys)
|
rs1561495424
|
|
NM_001999.4(FBN2):c.5899C>G (p.His1967Asp)
|
|
|
NM_001999.4(FBN2):c.5910T>G (p.Asp1970Glu)
|
rs1749761553
|
|
NM_001999.4(FBN2):c.5921_5922delinsCG (p.Ile1974Thr)
|
rs1749718755
|
|
NM_001999.4(FBN2):c.5945G>A (p.Gly1982Asp)
|
rs1561757902
|
|
NM_001999.4(FBN2):c.5978A>G (p.Glu1993Gly)
|
rs1749717138
|
|
NM_001999.4(FBN2):c.5990T>C (p.Phe1997Ser)
|
rs754066538
|
|
NM_001999.4(FBN2):c.5998C>A (p.Leu2000Ile)
|
|
|
NM_001999.4(FBN2):c.6016G>A (p.Glu2006Lys)
|
|
|
NM_001999.4(FBN2):c.6026C>T (p.Pro2009Leu)
|
|
|
NM_001999.4(FBN2):c.6030T>A (p.Asp2010Glu)
|
rs776937649
|
|
NM_001999.4(FBN2):c.6031G>A (p.Gly2011Ser)
|
|
|
NM_001999.4(FBN2):c.6043A>G (p.Ile2015Val)
|
rs1202188687
|
|
NM_001999.4(FBN2):c.6045A>G (p.Ile2015Met)
|
rs770585421
|
|
NM_001999.4(FBN2):c.6046+2T>C
|
rs1581200259
|
|
NM_001999.4(FBN2):c.6046G>C (p.Asp2016His)
|
rs1749711886
|
|
NM_001999.4(FBN2):c.6053A>G (p.Asn2018Ser)
|
|
|
NM_001999.4(FBN2):c.6055G>A (p.Glu2019Lys)
|
rs1554119321
|
|
NM_001999.4(FBN2):c.6056A>G (p.Glu2019Gly)
|
rs1749697561
|
|
NM_001999.4(FBN2):c.6089G>T (p.Gly2030Val)
|
|
|
NM_001999.4(FBN2):c.6118A>G (p.Arg2040Gly)
|
rs886038814
|
|
NM_001999.4(FBN2):c.6131C>T (p.Pro2044Leu)
|
|
|
NM_001999.4(FBN2):c.6160T>A (p.Cys2054Ser)
|
|
|
NM_001999.4(FBN2):c.6165T>G (p.Ile2055Met)
|
|
|
NM_001999.4(FBN2):c.6167-1G>C
|
|
|
NM_001999.4(FBN2):c.6167-3C>A
|
rs878854477
|
|
NM_001999.4(FBN2):c.6167-4G>A
|
rs370981323
|
|
NM_001999.4(FBN2):c.6228A>G (p.Pro2076=)
|
rs1749324052
|
|
NM_001999.4(FBN2):c.6229G>A (p.Gly2077Arg)
|
|
|
NM_001999.4(FBN2):c.6233G>C (p.Gly2078Ala)
|
rs753305406
|
|
NM_001999.4(FBN2):c.6254C>G (p.Pro2085Arg)
|
rs2126822046
|
|
NM_001999.4(FBN2):c.6262G>T (p.Val2088Leu)
|
rs893616190
|
|
NM_001999.4(FBN2):c.6269C>G (p.Ser2090Cys)
|
|
|
NM_001999.4(FBN2):c.6269C>T (p.Ser2090Phe)
|
rs878854478
|
|
NM_001999.4(FBN2):c.6277G>A (p.Gly2093Arg)
|
|
|
NM_001999.4(FBN2):c.628+3A>G
|
|
|
NM_001999.4(FBN2):c.628+4A>C
|
|
|
NM_001999.4(FBN2):c.629-3C>G
|
rs376491648
|
|
NM_001999.4(FBN2):c.6292+6A>G
|
|
|
NM_001999.4(FBN2):c.6299G>A (p.Arg2100His)
|
rs746758405
|
|
NM_001999.4(FBN2):c.6349A>G (p.Lys2117Glu)
|
rs2126821327
|
|
NM_001999.4(FBN2):c.6353C>T (p.Ala2118Val)
|
|
|
NM_001999.4(FBN2):c.640G>A (p.Gly214Ser)
|
|
|
NM_001999.4(FBN2):c.6415C>T (p.Pro2139Ser)
|
rs1266965965
|
|
NM_001999.4(FBN2):c.6421G>A (p.Glu2141Lys)
|
|
|
NM_001999.4(FBN2):c.6445+3A>G
|
|
|
NM_001999.4(FBN2):c.6446T>G (p.Val2149Gly)
|
rs191065419
|
|
NM_001999.4(FBN2):c.6454C>T (p.Gln2152Ter)
|
|
|
NM_001999.4(FBN2):c.645G>T (p.Pro215=)
|
rs764473594
|
|
NM_001999.4(FBN2):c.6511+4C>A
|
rs368610241
|
|
NM_001999.4(FBN2):c.6512-2A>G
|
rs863223580
|
|
NM_001999.4(FBN2):c.6512-2A>T
|
|
|
NM_001999.4(FBN2):c.6560G>C (p.Cys2187Ser)
|
rs1471927589
|
|
NM_001999.4(FBN2):c.6569C>G (p.Thr2190Ser)
|
rs1561750168
|
|
NM_001999.4(FBN2):c.6575G>C (p.Gly2192Ala)
|
|
|
NM_001999.4(FBN2):c.6583C>T (p.Arg2195Cys)
|
rs886059896
|
|
NM_001999.4(FBN2):c.6591A>G (p.Glu2197=)
|
rs886059895
|
|
NM_001999.4(FBN2):c.6619A>C (p.Thr2207Pro)
|
|
|
NM_001999.4(FBN2):c.6620C>T (p.Thr2207Ile)
|
|
|
NM_001999.4(FBN2):c.6623G>A (p.Gly2208Glu)
|
rs200489152
|
|
NM_001999.4(FBN2):c.6625G>T (p.Val2209Leu)
|
|
|
NM_001999.4(FBN2):c.6663T>A (p.Asn2221Lys)
|
rs2126818692
|
|
NM_001999.4(FBN2):c.6680C>T (p.Thr2227Ile)
|
rs863223583
|
|
NM_001999.4(FBN2):c.6700A>G (p.Ser2234Gly)
|
rs1749221516
|
|
NM_001999.4(FBN2):c.6748A>T (p.Asn2250Tyr)
|
|
|
NM_001999.4(FBN2):c.6757+2C>T
|
|
|
NM_001999.4(FBN2):c.6758-11C>T
|
rs1749187127
|
|
NM_001999.4(FBN2):c.6814T>G (p.Phe2272Val)
|
rs1749185390
|
|
NM_001999.4(FBN2):c.6832A>G (p.Thr2278Ala)
|
rs1060503500
|
|
NM_001999.4(FBN2):c.6856A>G (p.Arg2286Gly)
|
|
|
NM_001999.4(FBN2):c.6870G>C (p.Lys2290Asn)
|
|
|
NM_001999.4(FBN2):c.6873G>A (p.Met2291Ile)
|
rs1581189176
|
|
NM_001999.4(FBN2):c.6880+6G>A
|
|
|
NM_001999.4(FBN2):c.6880+6G>C
|
rs1271195305
|
|
NM_001999.4(FBN2):c.6880+8C>T
|
rs1749181973
|
|
NM_001999.4(FBN2):c.6881-1G>A
|
|
|
NM_001999.4(FBN2):c.6881-1G>T
|
|
|
NM_001999.4(FBN2):c.6898G>A (p.Glu2300Lys)
|
rs1419124277
|
|
NM_001999.4(FBN2):c.68C>A (p.Ala23Glu)
|
rs199560824
|
|
NM_001999.4(FBN2):c.6909C>A (p.His2303Gln)
|
|
|
NM_001999.4(FBN2):c.6911A>G (p.Asp2304Gly)
|
|
|
NM_001999.4(FBN2):c.6917A>G (p.Glu2306Gly)
|
|
|
NM_001999.4(FBN2):c.6975T>A (p.Pro2325=)
|
rs1274780641
|
|
NM_001999.4(FBN2):c.6977G>C (p.Gly2326Ala)
|
rs1554117875
|
|
NM_001999.4(FBN2):c.6985C>T (p.Arg2329Ter)
|
rs1287289593
|
|
NM_001999.4(FBN2):c.7011A>G (p.Val2337=)
|
rs2126816680
|
|
NM_001999.4(FBN2):c.7030A>T (p.Thr2344Ser)
|
|
|
NM_001999.4(FBN2):c.7052A>G (p.Asn2351Ser)
|
rs1581184433
|
|
NM_001999.4(FBN2):c.7055G>C (p.Gly2352Ala)
|
rs764330020
|
|
NM_001999.4(FBN2):c.7080C>A (p.Ser2360Arg)
|
|
|
NM_001999.4(FBN2):c.7109A>G (p.Gln2370Arg)
|
|
|
NM_001999.4(FBN2):c.7115G>C (p.Ser2372Thr)
|
|
|
NM_001999.4(FBN2):c.7118C>T (p.Ser2373Phe)
|
|
|
NM_001999.4(FBN2):c.7137T>C (p.Leu2379=)
|
|
|
NM_001999.4(FBN2):c.7138G>A (p.Asp2380Asn)
|
rs886059893
|
|
NM_001999.4(FBN2):c.7139A>G (p.Asp2380Gly)
|
rs1765463264
|
|
NM_001999.4(FBN2):c.7163C>T (p.Ala2388Val)
|
rs754380350
|
|
NM_001999.4(FBN2):c.7168G>A (p.Val2390Ile)
|
rs768193630
|
|
NM_001999.4(FBN2):c.7169T>C (p.Val2390Ala)
|
|
|
NM_001999.4(FBN2):c.7184G>A (p.Cys2395Tyr)
|
|
|
NM_001999.4(FBN2):c.7192G>T (p.Ala2398Ser)
|
|
|
NM_001999.4(FBN2):c.7195T>G (p.Ser2399Ala)
|
|
|
NM_001999.4(FBN2):c.7200_7201delinsCC (p.Ser2401Arg)
|
|
|
NM_001999.4(FBN2):c.7205_7206delinsTT (p.Arg2402Leu)
|
|
|
NM_001999.4(FBN2):c.7241G>A (p.Gly2414Asp)
|
|
|
NM_001999.4(FBN2):c.7241G>T (p.Gly2414Val)
|
rs2126809569
|
|
NM_001999.4(FBN2):c.7250G>T (p.Gly2417Val)
|
rs886038938
|
|
NM_001999.4(FBN2):c.7259A>C (p.His2420Pro)
|
rs2126809547
|
|
NM_001999.4(FBN2):c.7273T>C (p.Cys2425Arg)
|
|
|
NM_001999.4(FBN2):c.7316A>G (p.His2439Arg)
|
|
|
NM_001999.4(FBN2):c.7345+6G>A
|
|
|
NM_001999.4(FBN2):c.7346-3C>T
|
rs1439389862
|
|
NM_001999.4(FBN2):c.7382C>T (p.Thr2461Ile)
|
rs1019541548
|
|
NM_001999.4(FBN2):c.7396A>C (p.Ile2466Leu)
|
|
|
NM_001999.4(FBN2):c.7429A>G (p.Lys2477Glu)
|
rs1765435966
|
|
NM_001999.4(FBN2):c.7433T>C (p.Val2478Ala)
|
|
|
NM_001999.4(FBN2):c.7444A>G (p.Thr2482Ala)
|
|
|
NM_001999.4(FBN2):c.7459A>G (p.Thr2487Ala)
|
rs2126808746
|
|
NM_001999.4(FBN2):c.7460C>T (p.Thr2487Ile)
|
|
|
NM_001999.4(FBN2):c.7475T>C (p.Leu2492Pro)
|
rs1056653104
|
|
NM_001999.4(FBN2):c.7477G>T (p.Asp2493Tyr)
|
rs779483120
|
|
NM_001999.4(FBN2):c.7487C>A (p.Ser2496Tyr)
|
|
|
NM_001999.4(FBN2):c.74G>A (p.Gly25Asp)
|
rs2112811070
|
|
NM_001999.4(FBN2):c.7521G>T (p.Lys2507Asn)
|
|
|
NM_001999.4(FBN2):c.7533G>T (p.Gly2511=)
|
rs1060503502
|
|
NM_001999.4(FBN2):c.7543T>G (p.Cys2515Gly)
|
|
|
NM_001999.4(FBN2):c.7571A>C (p.Gln2524Pro)
|
|
|
NM_001999.4(FBN2):c.7575G>T (p.Glu2525Asp)
|
|
|
NM_001999.4(FBN2):c.7577A>T (p.Asp2526Val)
|
rs768941456
|
|
NM_001999.4(FBN2):c.7582A>C (p.Lys2528Gln)
|
rs894902794
|
|
NM_001999.4(FBN2):c.7582A>G (p.Lys2528Glu)
|
|
|
NM_001999.4(FBN2):c.7588T>C (p.Cys2530Arg)
|
|
|
NM_001999.4(FBN2):c.7618C>T (p.Gln2540Ter)
|
rs1453328210
|
|
NM_001999.4(FBN2):c.761G>T (p.Cys254Phe)
|
rs755760127
|
|
NM_001999.4(FBN2):c.7626C>G (p.Asn2542Lys)
|
|
|
NM_001999.4(FBN2):c.764C>T (p.Pro255Leu)
|
rs886059903
|
|
NM_001999.4(FBN2):c.7657G>T (p.Gly2553Trp)
|
|
|
NM_001999.4(FBN2):c.7658G>A (p.Gly2553Glu)
|
|
|
NM_001999.4(FBN2):c.7658G>T (p.Gly2553Val)
|
|
|
NM_001999.4(FBN2):c.7672T>G (p.Cys2558Gly)
|
rs863223589
|
|
NM_001999.4(FBN2):c.7679C>T (p.Pro2560Leu)
|
|
|
NM_001999.4(FBN2):c.7693C>T (p.His2565Tyr)
|
rs1765342729
|
|
NM_001999.4(FBN2):c.7727G>T (p.Gly2576Val)
|
rs572453085
|
|
NM_001999.4(FBN2):c.7744T>C (p.Cys2582Arg)
|
rs2126805299
|
|
NM_001999.4(FBN2):c.7757G>C (p.Gly2586Ala)
|
rs1447205905
|
|
NM_001999.4(FBN2):c.7771A>G (p.Thr2591Ala)
|
rs869025429
|
|
NM_001999.4(FBN2):c.7822A>T (p.Thr2608Ser)
|
rs762538141
|
|
NM_001999.4(FBN2):c.7840+1G>A
|
|
|
NM_001999.4(FBN2):c.7841-3C>T
|
rs1554116417
|
|
NM_001999.4(FBN2):c.7859_7860delinsAA (p.Gly2620Glu)
|
rs1554116412
|
|
NM_001999.4(FBN2):c.7860G>T (p.Gly2620=)
|
rs772818240
|
|
NM_001999.4(FBN2):c.7868G>A (p.Arg2623Lys)
|
|
|
NM_001999.4(FBN2):c.7873C>T (p.Gln2625Ter)
|
rs1554116411
|
|
NM_001999.4(FBN2):c.7897G>A (p.Gly2633Ser)
|
rs886059892
|
|
NM_001999.4(FBN2):c.7900G>A (p.Gly2634Ser)
|
|
|
NM_001999.4(FBN2):c.7918C>G (p.Pro2640Ala)
|
rs1060503512
|
|
NM_001999.4(FBN2):c.7959C>A (p.Val2653=)
|
rs773175830
|
|
NM_001999.4(FBN2):c.7960G>A (p.Asp2654Asn)
|
|
|
NM_001999.4(FBN2):c.7961A>G (p.Asp2654Gly)
|
|
|
NM_001999.4(FBN2):c.7975T>C (p.Ser2659Pro)
|
rs1765039937
|
|
NM_001999.4(FBN2):c.7994G>C (p.Gly2665Ala)
|
|
|
NM_001999.4(FBN2):c.799C>T (p.Pro267Ser)
|
rs1229950368
|
|
NM_001999.4(FBN2):c.8014A>G (p.Thr2672Ala)
|
|
|
NM_001999.4(FBN2):c.8033G>C (p.Cys2678Ser)
|
rs1765038866
|
|
NM_001999.4(FBN2):c.8042C>T (p.Pro2681Leu)
|
|
|
NM_001999.4(FBN2):c.8045_8046delinsTC (p.Ser2682Phe)
|
|
|
NM_001999.4(FBN2):c.8061C>G (p.Asp2687Glu)
|
rs749888746
|
|
NM_001999.4(FBN2):c.8061_8067delinsG (p.Asp2687_Phe2689delinsGlu)
|
rs863223597
|
|
NM_001999.4(FBN2):c.8078G>T (p.Cys2693Phe)
|
rs2126795619
|
|
NM_001999.4(FBN2):c.8080C>T (p.His2694Tyr)
|
rs1387382061
|
|
NM_001999.4(FBN2):c.8094G>C (p.Glu2698Asp)
|
rs1765035115
|
|
NM_001999.4(FBN2):c.8096G>A (p.Cys2699Tyr)
|
rs2126795584
|
|
NM_001999.4(FBN2):c.8098T>A (p.Ser2700Thr)
|
|
|
NM_001999.4(FBN2):c.8099C>G (p.Ser2700Trp)
|
rs776788539
|
|
NM_001999.4(FBN2):c.80C>A (p.Ala27Asp)
|
|
|
NM_001999.4(FBN2):c.80C>T (p.Ala27Val)
|
|
|
NM_001999.4(FBN2):c.8117G>A (p.Cys2706Tyr)
|
|
|
NM_001999.4(FBN2):c.8120A>G (p.Asn2707Ser)
|
rs1182788018
|
|
NM_001999.4(FBN2):c.812C>G (p.Thr271Ser)
|
rs1754660014
|
|
NM_001999.4(FBN2):c.8132C>G (p.Ser2711Cys)
|
rs758149534
|
|
NM_001999.4(FBN2):c.8139G>A (p.Thr2713=)
|
rs1057523293
|
|
NM_001999.4(FBN2):c.8143G>C (p.Gly2715Arg)
|
rs772569905
|
|
NM_001999.4(FBN2):c.8143G>T (p.Gly2715Trp)
|
rs772569905
|
|
NM_001999.4(FBN2):c.8147G>T (p.Gly2716Val)
|
rs1561736199
|
|
NM_001999.4(FBN2):c.8191G>A (p.Gly2731Ser)
|
rs1765029329
|
|
NM_001999.4(FBN2):c.8192+6G>A
|
rs752575354
|
|
NM_001999.4(FBN2):c.8193C>T (p.Gly2731=)
|
|
|
NM_001999.4(FBN2):c.8212G>A (p.Gly2738Arg)
|
rs1764985607
|
|
NM_001999.4(FBN2):c.8241G>A (p.Leu2747=)
|
rs775766250
|
|
NM_001999.4(FBN2):c.824A>C (p.Gln275Pro)
|
|
|
NM_001999.4(FBN2):c.8261A>G (p.Glu2754Gly)
|
|
|
NM_001999.4(FBN2):c.8275C>G (p.Pro2759Ala)
|
rs1158966833
|
|
NM_001999.4(FBN2):c.8283A>G (p.Ala2761=)
|
rs1764983104
|
|
NM_001999.4(FBN2):c.8290G>A (p.Glu2764Lys)
|
|
|
NM_001999.4(FBN2):c.8297A>T (p.Lys2766Ile)
|
rs1764982741
|
|
NM_001999.4(FBN2):c.82G>C (p.Gly28Arg)
|
rs772841538
|
|
NM_001999.4(FBN2):c.8309A>G (p.Tyr2770Cys)
|
rs546129957
|
|
NM_001999.4(FBN2):c.8315A>C (p.Lys2772Thr)
|
rs1308073420
|
|
NM_001999.4(FBN2):c.8323A>G (p.Ser2775Gly)
|
|
|
NM_001999.4(FBN2):c.835G>A (p.Glu279Lys)
|
rs2127056955
|
|
NM_001999.4(FBN2):c.8360C>G (p.Thr2787Ser)
|
rs1764978341
|
|
NM_001999.4(FBN2):c.8363C>T (p.Ala2788Val)
|
|
|
NM_001999.4(FBN2):c.8364+7A>G
|
rs185052980
|
|
NM_001999.4(FBN2):c.8365-13G>A
|
rs779409691
|
|
NM_001999.4(FBN2):c.8366T>C (p.Val2789Ala)
|
|
|
NM_001999.4(FBN2):c.8374A>G (p.Ile2792Val)
|
|
|
NM_001999.4(FBN2):c.8383G>A (p.Glu2795Lys)
|
|
|
NM_001999.4(FBN2):c.8396T>C (p.Met2799Thr)
|
|
|
NM_001999.4(FBN2):c.8413A>T (p.Met2805Leu)
|
|
|
NM_001999.4(FBN2):c.8414T>G (p.Met2805Arg)
|
|
|
NM_001999.4(FBN2):c.8425C>T (p.Leu2809Phe)
|
rs1764918027
|
|
NM_001999.4(FBN2):c.8435T>A (p.Leu2812His)
|
|
|
NM_001999.4(FBN2):c.844G>A (p.Ala282Thr)
|
rs772005485
|
|
NM_001999.4(FBN2):c.844G>T (p.Ala282Ser)
|
|
|
NM_001999.4(FBN2):c.8454C>G (p.Ile2818Met)
|
rs2126791949
|
|
NM_001999.4(FBN2):c.8467C>A (p.Pro2823Thr)
|
|
|
NM_001999.4(FBN2):c.8478G>C (p.Gln2826His)
|
rs1161871936
|
|
NM_001999.4(FBN2):c.8501dup (p.Tyr2834Ter)
|
rs1060503503
|
|
NM_001999.4(FBN2):c.8506A>G (p.Ile2836Val)
|
rs1249852107
|
|
NM_001999.4(FBN2):c.8521G>A (p.Asp2841Asn)
|
|
|
NM_001999.4(FBN2):c.8527A>G (p.Ser2843Gly)
|
rs1764914190
|
|
NM_001999.4(FBN2):c.8528_8529delinsTT (p.Ser2843Ile)
|
rs2126791814
|
|
NM_001999.4(FBN2):c.8529C>A (p.Ser2843Arg)
|
|
|
NM_001999.4(FBN2):c.853G>C (p.Gly285Arg)
|
rs2127056896
|
|
NM_001999.4(FBN2):c.8541C>G (p.Ile2847Met)
|
rs62374973
|
|
NM_001999.4(FBN2):c.8547A>G (p.Gln2849=)
|
rs1561733846
|
|
NM_001999.4(FBN2):c.8552A>G (p.Asn2851Ser)
|
rs886059891
|
|
NM_001999.4(FBN2):c.8606C>A (p.Thr2869Lys)
|
rs762956345
|
|
NM_001999.4(FBN2):c.8623A>G (p.Ile2875Val)
|
rs1554115164
|
|
NM_001999.4(FBN2):c.8635AAG[2] (p.Lys2881del)
|
|
|
NM_001999.4(FBN2):c.8666G>A (p.Ser2889Asn)
|
rs2126791602
|
|
NM_001999.4(FBN2):c.866G>A (p.Gly289Glu)
|
rs1754069364
|
|
NM_001999.4(FBN2):c.8681A>G (p.Tyr2894Cys)
|
rs779659640
|
|
NM_001999.4(FBN2):c.8695C>G (p.Leu2899Val)
|
|
|
NM_001999.4(FBN2):c.8729A>G (p.Gln2910Arg)
|
rs1764904392
|
|
NM_001999.4(FBN2):c.872A>C (p.Asn291Thr)
|
rs1754069147
|
|
NM_001999.4(FBN2):c.8731C>A (p.Leu2911Ile)
|
rs887275019
|
|
NM_001999.4(FBN2):c.8737T>G (p.Ter2913Glu)
|
|
|
NM_001999.4(FBN2):c.875G>C (p.Cys292Ser)
|
|
|
NM_001999.4(FBN2):c.878T>C (p.Ile293Thr)
|
|
|
NM_001999.4(FBN2):c.905G>A (p.Arg302Lys)
|
|
|
NM_001999.4(FBN2):c.905G>C (p.Arg302Thr)
|
rs863223616
|
|
NM_001999.4(FBN2):c.906A>T (p.Arg302Ser)
|
rs1554069994
|
|
NM_001999.4(FBN2):c.924A>T (p.Lys308Asn)
|
|
|
NM_001999.4(FBN2):c.930T>A (p.Ser310Arg)
|
|
|
NM_001999.4(FBN2):c.93G>C (p.Gln31His)
|
rs371491169
|
|
NM_001999.4(FBN2):c.952+3G>T
|
rs1554069982
|
|
NM_001999.4(FBN2):c.991A>G (p.Thr331Ala)
|
|
|
NM_001999.4(FBN2):c.994G>A (p.Gly332Ser)
|
rs2127000101
|
|
NM_001999.4(FBN2):c.995G>T (p.Gly332Val)
|
|
|
NM_002221.4(ITPKB):c.518G>A (p.Arg173His)
|
|
|
NM_002296.4(LBR):c.1561G>T (p.Ala521Ser)
|
rs372250618
|
|
NM_002296.4(LBR):c.218C>G (p.Ser73Cys)
|
rs773644529
|
|
NM_002296.4(LBR):c.629G>T (p.Gly210Val)
|
rs565288775
|
|
NM_002350.4(LYN):c.488G>T (p.Gly163Val)
|
|
|
NM_002381.5(MATN3):c.526G>T (p.Val176Leu)
|
rs200762092
|
|
NM_002381.5(MATN3):c.575T>A (p.Ile192Asn)
|
rs2103483989
|
|
NM_002381.5(MATN3):c.962G>C (p.Cys321Ser)
|
rs753326503
|
|
NM_002451.4(MTAP):c.*1140A>G
|
rs886063785
|
|
NM_002451.4(MTAP):c.*1197C>G
|
rs886063786
|
|
NM_002451.4(MTAP):c.*1558G>C
|
rs989103885
|
|
NM_002451.4(MTAP):c.*1608del
|
rs886063787
|
|
NM_002451.4(MTAP):c.*1621_*1622del
|
rs11358276
|
|
NM_002451.4(MTAP):c.*1668T>C
|
rs1040775189
|
|
NM_002451.4(MTAP):c.*1831T>A
|
rs886063789
|
|
NM_002451.4(MTAP):c.*1836C>G
|
rs768066844
|
|
NM_002451.4(MTAP):c.*2111A>G
|
rs1825809798
|
|
NM_002451.4(MTAP):c.*2171G>A
|
rs886063790
|
|
NM_002451.4(MTAP):c.*2333C>G
|
rs1587259830
|
|
NM_002451.4(MTAP):c.*254A>T
|
rs897835622
|
|
NM_002451.4(MTAP):c.*258del
|
rs886063782
|
|
NM_002451.4(MTAP):c.*2693G>A
|
rs1825822182
|
|
NM_002451.4(MTAP):c.*2740G>A
|
rs1460775302
|
|
NM_002451.4(MTAP):c.*303G>A
|
rs140440868
|
|
NM_002451.4(MTAP):c.*3656A>G
|
rs1825841895
|
|
NM_002451.4(MTAP):c.*3692G>A
|
rs1418873617
|
|
NM_002451.4(MTAP):c.*378T>C
|
rs886063783
|
|
NM_002451.4(MTAP):c.*3943G>A
|
rs886063794
|
|
NM_002451.4(MTAP):c.*795A>T
|
rs1317482370
|
|
NM_002451.4(MTAP):c.119A>G (p.Lys40Arg)
|
rs760959805
|
|
NM_002451.4(MTAP):c.187A>G (p.Arg63Gly)
|
rs886063781
|
|
NM_002474.3(MYH11):c.5078A>G (p.Gln1693Arg)
|
rs1555551464
|
|
NM_002520.7(NPM1):c.*101T>C
|
rs530255077
|
|
NM_002520.7(NPM1):c.*1del
|
rs2113301429
|
|
NM_002520.7(NPM1):c.*29A>T
|
rs200638434
|
|
NM_002520.7(NPM1):c.*2A>G
|
rs2113301446
|
|
NM_002520.7(NPM1):c.*33T>C
|
rs2113301714
|
|
NM_002520.7(NPM1):c.*73T>C
|
rs2113302170
|
|
NM_002520.7(NPM1):c.*75C>T
|
rs2113302182
|
|
NM_002520.7(NPM1):c.*76T>C
|
rs2113302197
|
|
NM_002520.7(NPM1):c.*80T>A
|
rs2113302213
|
|
NM_002520.7(NPM1):c.*81A>T
|
rs1271696160
|
|
NM_002520.7(NPM1):c.*98C>T
|
rs2113302335
|
|
NM_002546.4(TNFRSF11B):c.605G>A (p.Cys202Tyr)
|
rs2129882318
|
|
NM_002609.4(PDGFRB):c.1034C>T (p.Pro345Leu)
|
|
|
NM_002609.4(PDGFRB):c.1096G>A (p.Ala366Thr)
|
|
|
NM_002609.4(PDGFRB):c.1109G>A (p.Arg370His)
|
|
|
NM_002609.4(PDGFRB):c.1127G>A (p.Arg376Gln)
|
|
|
NM_002609.4(PDGFRB):c.1156G>C (p.Val386Leu)
|
|
|
NM_002609.4(PDGFRB):c.1278C>A (p.His426Gln)
|
|
|
NM_002609.4(PDGFRB):c.1346C>T (p.Ser449Phe)
|
rs1312583190
|
|
NM_002609.4(PDGFRB):c.1531C>T (p.Arg511Cys)
|
|
|
NM_002609.4(PDGFRB):c.1537G>A (p.Ala513Thr)
|
|
|
NM_002609.4(PDGFRB):c.1540G>A (p.Val514Met)
|
|
|
NM_002609.4(PDGFRB):c.1630C>T (p.Leu544Phe)
|
rs2113898287
|
|
NM_002609.4(PDGFRB):c.1660A>G (p.Met554Val)
|
|
|
NM_002609.4(PDGFRB):c.1714G>A (p.Val572Met)
|
rs2113897117
|
|
NM_002609.4(PDGFRB):c.1762C>T (p.Pro588Ser)
|
|
|
NM_002609.4(PDGFRB):c.1766A>G (p.Tyr589Cys)
|
rs1760269359
|
|
NM_002609.4(PDGFRB):c.176C>T (p.Pro59Leu)
|
rs202213873
|
|
NM_002609.4(PDGFRB):c.1775C>A (p.Thr592Lys)
|
|
|
NM_002609.4(PDGFRB):c.1775C>T (p.Thr592Met)
|
|
|
NM_002609.4(PDGFRB):c.17C>G (p.Ala6Gly)
|
|
|
NM_002609.4(PDGFRB):c.191G>A (p.Arg64Gln)
|
|
|
NM_002609.4(PDGFRB):c.2023+6G>A
|
|
|
NM_002609.4(PDGFRB):c.2054G>A (p.Arg685His)
|
|
|
NM_002609.4(PDGFRB):c.2062G>C (p.Asp688His)
|
|
|
NM_002609.4(PDGFRB):c.2083C>T (p.Arg695Cys)
|
rs138008832
|
|
NM_002609.4(PDGFRB):c.2094dup (p.Thr699fs)
|
|
|
NM_002609.4(PDGFRB):c.2116G>T (p.Asp706Tyr)
|
rs770635073
|
|
NM_002609.4(PDGFRB):c.2191T>G (p.Ser731Ala)
|
|
|
NM_002609.4(PDGFRB):c.2235G>C (p.Lys745Asn)
|
rs1760151971
|
|
NM_002609.4(PDGFRB):c.2270T>C (p.Met757Thr)
|
|
|
NM_002609.4(PDGFRB):c.2281G>A (p.Val761Ile)
|
|
|
NM_002609.4(PDGFRB):c.2281G>C (p.Val761Leu)
|
|
|
NM_002609.4(PDGFRB):c.2328T>A (p.Asp776Glu)
|
|
|
NM_002609.4(PDGFRB):c.2360G>A (p.Cys787Tyr)
|
rs2113890060
|
|
NM_002609.4(PDGFRB):c.2380G>A (p.Glu794Lys)
|
|
|
NM_002609.4(PDGFRB):c.2386C>T (p.Pro796Ser)
|
|
|
NM_002609.4(PDGFRB):c.2483C>T (p.Ala828Val)
|
|
|
NM_002609.4(PDGFRB):c.2549A>G (p.Asp850Gly)
|
|
|
NM_002609.4(PDGFRB):c.2653G>A (p.Asp885Asn)
|
|
|
NM_002609.4(PDGFRB):c.2698+1G>T
|
|
|
NM_002609.4(PDGFRB):c.2714C>T (p.Pro905Leu)
|
|
|
NM_002609.4(PDGFRB):c.2741A>G (p.Tyr914Cys)
|
|
|
NM_002609.4(PDGFRB):c.2811G>A (p.Met937Ile)
|
|
|
NM_002609.4(PDGFRB):c.2855C>G (p.Ser952Cys)
|
|
|
NM_002609.4(PDGFRB):c.2905-1G>T
|
|
|
NM_002609.4(PDGFRB):c.2905-8G>A
|
rs201866603
|
|
NM_002609.4(PDGFRB):c.2909A>C (p.Tyr970Ser)
|
|
|
NM_002609.4(PDGFRB):c.2939G>A (p.Ser980Asn)
|
rs1561984983
|
|
NM_002609.4(PDGFRB):c.3029C>T (p.Thr1010Ile)
|
|
|
NM_002609.4(PDGFRB):c.3139T>C (p.Ser1047Pro)
|
|
|
NM_002609.4(PDGFRB):c.3256_3257insCGGAGC (p.Glu1085_Leu1086insProGlu)
|
|
|
NM_002609.4(PDGFRB):c.3274T>A (p.Ser1092Thr)
|
|
|
NM_002609.4(PDGFRB):c.337C>T (p.Arg113Trp)
|
|
|
NM_002609.4(PDGFRB):c.373G>A (p.Val125Met)
|
|
|
NM_002609.4(PDGFRB):c.377G>C (p.Gly126Ala)
|
|
|
NM_002609.4(PDGFRB):c.449G>A (p.Arg150Gln)
|
|
|
NM_002609.4(PDGFRB):c.460C>T (p.Pro154Ser)
|
|
|
NM_002609.4(PDGFRB):c.461C>G (p.Pro154Arg)
|
|
|
NM_002609.4(PDGFRB):c.484G>A (p.Glu162Lys)
|
rs1562011077
|
|
NM_002609.4(PDGFRB):c.511G>T (p.Val171Phe)
|
|
|
NM_002609.4(PDGFRB):c.575C>T (p.Thr192Ile)
|
|
|
NM_002609.4(PDGFRB):c.631+1G>A
|
rs111491260
|
|
NM_002609.4(PDGFRB):c.745T>C (p.Tyr249His)
|
|
|
NM_002609.4(PDGFRB):c.805C>G (p.Pro269Ala)
|
|
|
NM_002609.4(PDGFRB):c.844G>A (p.Glu282Lys)
|
|
|
NM_002609.4(PDGFRB):c.950G>A (p.Arg317Gln)
|
|
|
NM_002609.4(PDGFRB):c.991C>T (p.His331Tyr)
|
|
|
NM_002609.4(PDGFRB):c.994C>T (p.Arg332Trp)
|
|
|
NM_002661.5(PLCG2):c.101G>A (p.Arg34His)
|
|
|
NM_002661.5(PLCG2):c.1040G>A (p.Arg347His)
|
|
|
NM_002661.5(PLCG2):c.1048C>T (p.Arg350Cys)
|
rs1272100050
|
|
NM_002661.5(PLCG2):c.1049G>T (p.Arg350Leu)
|
|
|
NM_002661.5(PLCG2):c.1051A>T (p.Met351Leu)
|
rs918993653
|
|
NM_002661.5(PLCG2):c.1053G>T (p.Met351Ile)
|
|
|
NM_002661.5(PLCG2):c.105G>A (p.Lys35=)
|
rs1910957870
|
|
NM_002661.5(PLCG2):c.1060C>A (p.Arg354Ser)
|
|
|
NM_002661.5(PLCG2):c.1060C>T (p.Arg354Cys)
|
|
|
NM_002661.5(PLCG2):c.1066A>G (p.Ile356Val)
|
rs1908751821
|
|
NM_002661.5(PLCG2):c.1068T>G (p.Ile356Met)
|
rs1374066580
|
|
NM_002661.5(PLCG2):c.107C>G (p.Ser36Cys)
|
|
|
NM_002661.5(PLCG2):c.1086C>G (p.Asp362Glu)
|
rs375876385
|
|
NM_002661.5(PLCG2):c.1124C>T (p.Thr375Met)
|
|
|
NM_002661.5(PLCG2):c.1126C>G (p.Arg376Gly)
|
|
|
NM_002661.5(PLCG2):c.1127G>A (p.Arg376Gln)
|
rs1908861048
|
|
NM_002661.5(PLCG2):c.1173C>A (p.Asp391Glu)
|
rs772084816
|
|
NM_002661.5(PLCG2):c.1177G>T (p.Ala393Ser)
|
|
|
NM_002661.5(PLCG2):c.1193+2_1193+3insAACAGCCAAAGAAAATCAGCCAAATCAGCCAAAGAAAT
|
|
|
NM_002661.5(PLCG2):c.1194-5T>A
|
|
|
NM_002661.5(PLCG2):c.1204A>G (p.Ile402Val)
|
rs1909108487
|
|
NM_002661.5(PLCG2):c.1213A>G (p.Ile405Val)
|
|
|
NM_002661.5(PLCG2):c.1216G>A (p.Glu406Lys)
|
|
|
NM_002661.5(PLCG2):c.1220A>G (p.Glu407Gly)
|
rs1909109489
|
|
NM_002661.5(PLCG2):c.1225T>A (p.Cys409Ser)
|
rs2143630582
|
|
NM_002661.5(PLCG2):c.1234G>C (p.Glu412Gln)
|
rs1909110302
|
|
NM_002661.5(PLCG2):c.1235A>G (p.Glu412Gly)
|
|
|
NM_002661.5(PLCG2):c.1244G>A (p.Arg415His)
|
|
|
NM_002661.5(PLCG2):c.1265A>G (p.Lys422Arg)
|
rs1909111711
|
|
NM_002661.5(PLCG2):c.1270G>A (p.Val424Ile)
|
|
|
NM_002661.5(PLCG2):c.127G>T (p.Val43Phe)
|
rs370352962
|
|
NM_002661.5(PLCG2):c.1282C>A (p.Leu428Met)
|
rs1033764675
|
|
NM_002661.5(PLCG2):c.1292C>T (p.Thr431Met)
|
|
|
NM_002661.5(PLCG2):c.1310G>T (p.Ser437Ile)
|
|
|
NM_002661.5(PLCG2):c.1318C>A (p.Gln440Lys)
|
|
|
NM_002661.5(PLCG2):c.1328C>T (p.Ser443Leu)
|
|
|
NM_002661.5(PLCG2):c.133G>A (p.Val45Met)
|
rs368137889
|
|
NM_002661.5(PLCG2):c.133G>T (p.Val45Leu)
|
|
|
NM_002661.5(PLCG2):c.1351A>G (p.Ile451Val)
|
|
|
NM_002661.5(PLCG2):c.1351A>T (p.Ile451Phe)
|
rs1424969556
|
|
NM_002661.5(PLCG2):c.1381_1382delinsTT (p.Arg461Leu)
|
rs1597121708
|
|
NM_002661.5(PLCG2):c.1381del (p.Arg461fs)
|
|
|
NM_002661.5(PLCG2):c.1382G>A (p.Arg461Gln)
|
rs3935625
|
|
NM_002661.5(PLCG2):c.1385G>A (p.Gly462Asp)
|
rs1909323788
|
|
NM_002661.5(PLCG2):c.13G>T (p.Val5Phe)
|
|
|
NM_002661.5(PLCG2):c.1404GGA[1] (p.Glu469del)
|
rs762006432
|
|
NM_002661.5(PLCG2):c.1406A>G (p.Glu469Gly)
|
rs1597121726
|
|
NM_002661.5(PLCG2):c.1410C>G (p.Asp470Glu)
|
|
|
NM_002661.5(PLCG2):c.1414A>G (p.Lys472Glu)
|
rs1909325738
|
|
NM_002661.5(PLCG2):c.1417G>C (p.Asp473His)
|
|
|
NM_002661.5(PLCG2):c.1420G>A (p.Glu474Lys)
|
rs867345397
|
|
NM_002661.5(PLCG2):c.1423C>G (p.His475Asp)
|
rs1909326421
|
|
NM_002661.5(PLCG2):c.1432C>T (p.Gln478Ter)
|
|
|
NM_002661.5(PLCG2):c.1436G>A (p.Gly479Glu)
|
rs1389072647
|
|
NM_002661.5(PLCG2):c.1464C>A (p.Asp488Glu)
|
|
|
NM_002661.5(PLCG2):c.146C>T (p.Thr49Met)
|
|
|
NM_002661.5(PLCG2):c.1492A>G (p.Ile498Val)
|
|
|
NM_002661.5(PLCG2):c.149G>A (p.Arg50Gln)
|
|
|
NM_002661.5(PLCG2):c.1525A>G (p.Ile509Val)
|
|
|
NM_002661.5(PLCG2):c.1526T>C (p.Ile509Thr)
|
|
|
NM_002661.5(PLCG2):c.1528G>A (p.Glu510Lys)
|
|
|
NM_002661.5(PLCG2):c.1534A>T (p.Thr512Ser)
|
|
|
NM_002661.5(PLCG2):c.1537A>G (p.Met513Val)
|
rs764836810
|
|
NM_002661.5(PLCG2):c.1538T>C (p.Met513Thr)
|
rs1348992625
|
|
NM_002661.5(PLCG2):c.153G>C (p.Gln51His)
|
|
|
NM_002661.5(PLCG2):c.1558-13C>G
|
rs763441688
|
|
NM_002661.5(PLCG2):c.1558-7G>A
|
|
|
NM_002661.5(PLCG2):c.1558-8C>A
|
|
|
NM_002661.5(PLCG2):c.1562T>C (p.Ile521Thr)
|
rs1909472317
|
|
NM_002661.5(PLCG2):c.1564C>T (p.Pro522Ser)
|
|
|
NM_002661.5(PLCG2):c.1565C>T (p.Pro522Leu)
|
rs72824905
|
|
NM_002661.5(PLCG2):c.1579C>T (p.His527Tyr)
|
rs756033757
|
|
NM_002661.5(PLCG2):c.1586G>T (p.Gly529Val)
|
rs1013382788
|
|
NM_002661.5(PLCG2):c.1595G>C (p.Trp532Ser)
|
rs370429726
|
|
NM_002661.5(PLCG2):c.1596G>T (p.Trp532Cys)
|
rs1663889181
|
|
NM_002661.5(PLCG2):c.1602C>A (p.His534Gln)
|
|
|
NM_002661.5(PLCG2):c.1609G>A (p.Val537Met)
|
rs1909475104
|
|
NM_002661.5(PLCG2):c.1621A>G (p.Thr541Ala)
|
|
|
NM_002661.5(PLCG2):c.1646A>C (p.Glu549Ala)
|
|
|
NM_002661.5(PLCG2):c.1661C>A (p.Thr554Lys)
|
|
|
NM_002661.5(PLCG2):c.1661C>T (p.Thr554Met)
|
|
|
NM_002661.5(PLCG2):c.1663G>T (p.Gly555Trp)
|
|
|
NM_002661.5(PLCG2):c.1666G>A (p.Gly556Ser)
|
rs779697226
|
|
NM_002661.5(PLCG2):c.1666G>C (p.Gly556Arg)
|
|
|
NM_002661.5(PLCG2):c.1671G>C (p.Lys557Asn)
|
rs372347274
|
|
NM_002661.5(PLCG2):c.1674T>A (p.Asp558Glu)
|
|
|
NM_002661.5(PLCG2):c.1727C>T (p.Ser576Phe)
|
|
|
NM_002661.5(PLCG2):c.1736G>A (p.Arg579Gln)
|
|
|
NM_002661.5(PLCG2):c.173C>T (p.Ala58Val)
|
rs753845661
|
|
NM_002661.5(PLCG2):c.1742G>T (p.Gly581Val)
|
|
|
NM_002661.5(PLCG2):c.1744C>T (p.Arg582Trp)
|
rs1339374297
|
|
NM_002661.5(PLCG2):c.174_175inv (p.Asp59Asn)
|
|
|
NM_002661.5(PLCG2):c.1759C>T (p.Arg587Trp)
|
rs1049453423
|
|
NM_002661.5(PLCG2):c.1775T>C (p.Met592Thr)
|
rs1555519696
|
|
NM_002661.5(PLCG2):c.1780G>T (p.Gly594Cys)
|
rs759783310
|
|
NM_002661.5(PLCG2):c.1781G>A (p.Gly594Asp)
|
|
|
NM_002661.5(PLCG2):c.1790T>C (p.Leu597Pro)
|
|
|
NM_002661.5(PLCG2):c.17A>G (p.Asn6Ser)
|
|
|
NM_002661.5(PLCG2):c.1805C>G (p.Thr602Ser)
|
|
|
NM_002661.5(PLCG2):c.1825A>G (p.Ser609Gly)
|
|
|
NM_002661.5(PLCG2):c.1834G>T (p.Ala612Ser)
|
|
|
NM_002661.5(PLCG2):c.1837C>T (p.Leu613Phe)
|
|
|
NM_002661.5(PLCG2):c.183C>G (p.Ile61Met)
|
rs553657822
|
|
NM_002661.5(PLCG2):c.1862A>G (p.His621Arg)
|
|
|
NM_002661.5(PLCG2):c.1867C>T (p.Arg623Cys)
|
|
|
NM_002661.5(PLCG2):c.1868G>T (p.Arg623Leu)
|
rs1909580178
|
|
NM_002661.5(PLCG2):c.1888C>T (p.Arg630Trp)
|
rs747373917
|
|
NM_002661.5(PLCG2):c.1899C>G (p.Asp633Glu)
|
rs1305847899
|
|
NM_002661.5(PLCG2):c.1909AACCCC[3] (p.Pro640_His641insAsnPro)
|
|
|
NM_002661.5(PLCG2):c.1922A>G (p.His641Arg)
|
|
|
NM_002661.5(PLCG2):c.1923C>G (p.His641Gln)
|
rs374927413
|
|
NM_002661.5(PLCG2):c.1934+1G>A
|
rs2143658084
|
|
NM_002661.5(PLCG2):c.1934+5G>A
|
rs1909585047
|
|
NM_002661.5(PLCG2):c.1939T>C (p.Tyr647His)
|
|
|
NM_002661.5(PLCG2):c.194-3T>C
|
|
|
NM_002661.5(PLCG2):c.1948A>T (p.Ser650Cys)
|
rs1567529655
|
|
NM_002661.5(PLCG2):c.1952T>C (p.Leu651Pro)
|
rs2143663242
|
|
NM_002661.5(PLCG2):c.1957C>T (p.Arg653Cys)
|
rs755569519
|
|
NM_002661.5(PLCG2):c.1958G>A (p.Arg653His)
|
rs1325870340
|
|
NM_002661.5(PLCG2):c.1960_1961del (p.Gly654fs)
|
rs2143663285
|
|
NM_002661.5(PLCG2):c.1971G>C (p.Glu657Asp)
|
rs758439876
|
|
NM_002661.5(PLCG2):c.1981A>T (p.Met661Leu)
|
rs778096311
|
|
NM_002661.5(PLCG2):c.1990C>T (p.Pro664Ser)
|
rs1909678188
|
|
NM_002661.5(PLCG2):c.1993C>T (p.Arg665Trp)
|
rs1057519831
|
|
NM_002661.5(PLCG2):c.1998C>G (p.Asp666Glu)
|
rs745784908
|
|
NM_002661.5(PLCG2):c.1999G>A (p.Gly667Arg)
|
|
|
NM_002661.5(PLCG2):c.2015G>A (p.Arg672Gln)
|
|
|
NM_002661.5(PLCG2):c.2021G>A (p.Arg674Gln)
|
|
|
NM_002661.5(PLCG2):c.2029A>T (p.Ser677Cys)
|
|
|
NM_002661.5(PLCG2):c.202A>G (p.Met68Val)
|
|
|
NM_002661.5(PLCG2):c.2053A>G (p.Arg685Gly)
|
|
|
NM_002661.5(PLCG2):c.2054_2054+1delinsAA
|
rs2143663578
|
|
NM_002661.5(PLCG2):c.2060G>A (p.Arg687Lys)
|
rs770193044
|
|
NM_002661.5(PLCG2):c.2060G>C (p.Arg687Thr)
|
rs770193044
|
|
NM_002661.5(PLCG2):c.2068G>A (p.Val690Ile)
|
|
|
NM_002661.5(PLCG2):c.2089C>T (p.Arg697Trp)
|
|
|
NM_002661.5(PLCG2):c.208A>G (p.Ile70Val)
|
rs756113383
|
|
NM_002661.5(PLCG2):c.2090G>A (p.Arg697Gln)
|
rs767717794
|
|
NM_002661.5(PLCG2):c.2097C>T (p.Gly699=)
|
rs1597132176
|
|
NM_002661.5(PLCG2):c.2166G>C (p.Lys722Asn)
|
|
|
NM_002661.5(PLCG2):c.216A>C (p.Glu72Asp)
|
rs2143474867
|
|
NM_002661.5(PLCG2):c.2179C>T (p.Arg727Ter)
|
rs1476496257
|
|
NM_002661.5(PLCG2):c.2184G>C (p.Lys728Asn)
|
rs2143682822
|
|
NM_002661.5(PLCG2):c.2187G>A (p.Met729Ile)
|
|
|
NM_002661.5(PLCG2):c.2195G>A (p.Arg732His)
|
|
|
NM_002661.5(PLCG2):c.219C>G (p.Ile73Met)
|
|
|
NM_002661.5(PLCG2):c.2200C>A (p.Pro734Thr)
|
|
|
NM_002661.5(PLCG2):c.2203G>A (p.Val735Met)
|
|
|
NM_002661.5(PLCG2):c.2207C>T (p.Thr736Ile)
|
|
|
NM_002661.5(PLCG2):c.2211C>A (p.Pro737=)
|
rs368933697
|
|
NM_002661.5(PLCG2):c.2224C>G (p.Arg742Gly)
|
rs776768909
|
|
NM_002661.5(PLCG2):c.2225G>A (p.Arg742His)
|
|
|
NM_002661.5(PLCG2):c.2225G>T (p.Arg742Leu)
|
|
|
NM_002661.5(PLCG2):c.2228A>G (p.Tyr743Cys)
|
rs752539679
|
|
NM_002661.5(PLCG2):c.2231A>C (p.Asn744Thr)
|
rs762848692
|
|
NM_002661.5(PLCG2):c.2236-14_2236-13delinsGG
|
|
|
NM_002661.5(PLCG2):c.2246T>C (p.Ile749Thr)
|
|
|
NM_002661.5(PLCG2):c.2270G>C (p.Arg757Thr)
|
|
|
NM_002661.5(PLCG2):c.2284C>T (p.Pro762Ser)
|
|
|
NM_002661.5(PLCG2):c.2300C>T (p.Pro767Leu)
|
|
|
NM_002661.5(PLCG2):c.2306T>C (p.Met769Thr)
|
|
|
NM_002661.5(PLCG2):c.2307+4C>G
|
rs745912221
|
|
NM_002661.5(PLCG2):c.2307+5G>A
|
|
|
NM_002661.5(PLCG2):c.2318C>T (p.Thr773Ile)
|
|
|
NM_002661.5(PLCG2):c.2326G>T (p.Ala776Ser)
|
|
|
NM_002661.5(PLCG2):c.2339A>G (p.Tyr780Cys)
|
|
|
NM_002661.5(PLCG2):c.2375G>C (p.Arg792Pro)
|
rs202210217
|
|
NM_002661.5(PLCG2):c.2399C>A (p.Ser800Tyr)
|
rs769337881
|
|
NM_002661.5(PLCG2):c.23A>T (p.Asp8Val)
|
|
|
NM_002661.5(PLCG2):c.2417+6G>A
|
|
|
NM_002661.5(PLCG2):c.2418-694C>G
|
rs901895283
|
|
NM_002661.5(PLCG2):c.241G>A (p.Asp81Asn)
|
rs2143474943
|
|
NM_002661.5(PLCG2):c.2430C>G (p.Asp810Glu)
|
|
|
NM_002661.5(PLCG2):c.2438C>A (p.Thr813Asn)
|
rs2143701586
|
|
NM_002661.5(PLCG2):c.2465A>C (p.Asn822Thr)
|
rs746172717
|
|
NM_002661.5(PLCG2):c.2479A>G (p.Ile827Val)
|
rs1910307318
|
|
NM_002661.5(PLCG2):c.2482T>A (p.Ser828Thr)
|
|
|
NM_002661.5(PLCG2):c.2483C>T (p.Ser828Leu)
|
|
|
NM_002661.5(PLCG2):c.2485A>G (p.Thr829Ala)
|
rs764926974
|
|
NM_002661.5(PLCG2):c.2489C>A (p.Ala830Glu)
|
|
|
NM_002661.5(PLCG2):c.248A>G (p.Glu83Gly)
|
|
|
NM_002661.5(PLCG2):c.2493C>A (p.Asp831Glu)
|
|
|
NM_002661.5(PLCG2):c.2497G>C (p.Glu833Gln)
|
|
|
NM_002661.5(PLCG2):c.2501A>C (p.Glu834Ala)
|
rs754958154
|
|
NM_002661.5(PLCG2):c.2501A>G (p.Glu834Gly)
|
rs754958154
|
|
NM_002661.5(PLCG2):c.2503C>G (p.Leu835Val)
|
|
|
NM_002661.5(PLCG2):c.2515-3C>A
|
|
|
NM_002661.5(PLCG2):c.2515-3C>T
|
rs751118241
|
|
NM_002661.5(PLCG2):c.2528A>G (p.Asn843Ser)
|
|
|
NM_002661.5(PLCG2):c.2556A>G (p.Ile852Met)
|
rs1910374666
|
|
NM_002661.5(PLCG2):c.2573A>C (p.Tyr858Ser)
|
|
|
NM_002661.5(PLCG2):c.2580C>A (p.Val860=)
|
rs776770937
|
|
NM_002661.5(PLCG2):c.2581+3A>G
|
|
|
NM_002661.5(PLCG2):c.2581G>A (p.Val861Met)
|
rs559219743
|
|
NM_002661.5(PLCG2):c.2609A>G (p.Lys870Arg)
|
|
|
NM_002661.5(PLCG2):c.2611T>C (p.Ser871Pro)
|
rs2143713402
|
|
NM_002661.5(PLCG2):c.2640G>T (p.Gln880His)
|
|
|
NM_002661.5(PLCG2):c.2650C>T (p.Pro884Ser)
|
|
|
NM_002661.5(PLCG2):c.2653C>T (p.Pro885Ser)
|
|
|
NM_002661.5(PLCG2):c.2654C>T (p.Pro885Leu)
|
|
|
NM_002661.5(PLCG2):c.2661G>T (p.Glu887Asp)
|
rs201601618
|
|
NM_002661.5(PLCG2):c.2663T>G (p.Phe888Cys)
|
|
|
NM_002661.5(PLCG2):c.2668A>T (p.Thr890Ser)
|
|
|
NM_002661.5(PLCG2):c.266G>A (p.Arg89His)
|
rs762900860
|
|
NM_002661.5(PLCG2):c.2680G>A (p.Glu894Lys)
|
|
|
NM_002661.5(PLCG2):c.2694G>T (p.Glu898Asp)
|
|
|
NM_002661.5(PLCG2):c.2707A>G (p.Ile903Val)
|
|
|
NM_002661.5(PLCG2):c.2713G>C (p.Glu905Gln)
|
|
|
NM_002661.5(PLCG2):c.2729T>C (p.Ile910Thr)
|
|
|
NM_002661.5(PLCG2):c.2738A>C (p.Lys913Thr)
|
|
|
NM_002661.5(PLCG2):c.2739+5G>T
|
rs755300615
|
|
NM_002661.5(PLCG2):c.2740-10C>G
|
rs762291149
|
|
NM_002661.5(PLCG2):c.2774C>T (p.Ser925Phe)
|
|
|
NM_002661.5(PLCG2):c.2784C>G (p.Ile928Met)
|
rs769310647
|
|
NM_002661.5(PLCG2):c.2800G>C (p.Val934Leu)
|
rs73598710
|
|
NM_002661.5(PLCG2):c.2815C>G (p.Pro939Ala)
|
rs2143721503
|
|
NM_002661.5(PLCG2):c.2816C>A (p.Pro939Gln)
|
rs2143721512
|
|
NM_002661.5(PLCG2):c.281G>A (p.Cys94Tyr)
|
|
|
NM_002661.5(PLCG2):c.2832G>C (p.Lys944Asn)
|
|
|
NM_002661.5(PLCG2):c.2842+6A>G
|
rs765477213
|
|
NM_002661.5(PLCG2):c.2843A>C (p.Glu948Ala)
|
|
|
NM_002661.5(PLCG2):c.2851G>C (p.Asp951His)
|
rs2143726099
|
|
NM_002661.5(PLCG2):c.2858G>A (p.Arg953Gln)
|
|
|
NM_002661.5(PLCG2):c.2867G>T (p.Arg956Leu)
|
|
|
NM_002661.5(PLCG2):c.2881A>G (p.Thr961Ala)
|
|
|
NM_002661.5(PLCG2):c.2882C>G (p.Thr961Arg)
|
|
|
NM_002661.5(PLCG2):c.2896A>G (p.Ile966Val)
|
|
|
NM_002661.5(PLCG2):c.2899A>G (p.Ile967Val)
|
|
|
NM_002661.5(PLCG2):c.2901C>G (p.Ile967Met)
|
|
|
NM_002661.5(PLCG2):c.2917G>A (p.Asp973Asn)
|
|
|
NM_002661.5(PLCG2):c.2935C>G (p.Gln979Glu)
|
|
|
NM_002661.5(PLCG2):c.2935C>T (p.Gln979Ter)
|
|
|
NM_002661.5(PLCG2):c.2948C>T (p.Thr983Ile)
|
rs1910708985
|
|
NM_002661.5(PLCG2):c.2963A>G (p.Lys988Arg)
|
|
|
NM_002661.5(PLCG2):c.2968C>G (p.Gln990Glu)
|
|
|
NM_002661.5(PLCG2):c.2994C>A (p.Asp998Glu)
|
rs766228601
|
|
NM_002661.5(PLCG2):c.2996C>T (p.Pro999Leu)
|
|
|
NM_002661.5(PLCG2):c.3001C>T (p.Arg1001Cys)
|
rs1024473204
|
|
NM_002661.5(PLCG2):c.3004C>A (p.Leu1002Ile)
|
|
|
NM_002661.5(PLCG2):c.3004C>T (p.Leu1002Phe)
|
rs977656147
|
|
NM_002661.5(PLCG2):c.3029T>C (p.Val1010Ala)
|
rs1420258193
|
|
NM_002661.5(PLCG2):c.3032C>T (p.Ala1011Val)
|
|
|
NM_002661.5(PLCG2):c.304A>T (p.Thr102Ser)
|
|
|
NM_002661.5(PLCG2):c.3053-9C>A
|
rs751586463
|
|
NM_002661.5(PLCG2):c.3075C>G (p.His1025Gln)
|
rs368241065
|
|
NM_002661.5(PLCG2):c.3088C>A (p.Leu1030Ile)
|
|
|
NM_002661.5(PLCG2):c.3098G>T (p.Arg1033Leu)
|
rs760293225
|
|
NM_002661.5(PLCG2):c.309G>T (p.Gln103His)
|
|
|
NM_002661.5(PLCG2):c.3117G>C (p.Gln1039His)
|
|
|
NM_002661.5(PLCG2):c.3118C>T (p.Pro1040Ser)
|
|
|
NM_002661.5(PLCG2):c.3128T>C (p.Met1043Thr)
|
rs2143730925
|
|
NM_002661.5(PLCG2):c.3148C>T (p.Pro1050Ser)
|
rs2143730985
|
|
NM_002661.5(PLCG2):c.3162G>C (p.Glu1054Asp)
|
rs2143731047
|
|
NM_002661.5(PLCG2):c.3166_3167delinsTT (p.Gln1056Leu)
|
rs1597144802
|
|
NM_002661.5(PLCG2):c.3198+6G>A
|
rs752647511
|
|
NM_002661.5(PLCG2):c.3199-3C>T
|
|
|
NM_002661.5(PLCG2):c.3202C>T (p.Leu1068Phe)
|
|
|
NM_002661.5(PLCG2):c.3205G>A (p.Gly1069Ser)
|
|
|
NM_002661.5(PLCG2):c.3226C>G (p.Leu1076Val)
|
|
|
NM_002661.5(PLCG2):c.3236G>C (p.Ser1079Thr)
|
rs771514165
|
|
NM_002661.5(PLCG2):c.3245G>T (p.Cys1082Phe)
|
|
|
NM_002661.5(PLCG2):c.3248C>A (p.Pro1083His)
|
rs2143733942
|
|
NM_002661.5(PLCG2):c.3275C>A (p.Ala1092Asp)
|
rs763763571
|
|
NM_002661.5(PLCG2):c.3285CAA[2] (p.Asn1097del)
|
rs749338323
|
|
NM_002661.5(PLCG2):c.32C>A (p.Ala11Glu)
|
rs753458249
|
|
NM_002661.5(PLCG2):c.3302C>T (p.Thr1101Met)
|
|
|
NM_002661.5(PLCG2):c.3307G>A (p.Val1103Ile)
|
|
|
NM_002661.5(PLCG2):c.3310G>A (p.Val1104Met)
|
rs1385319449
|
|
NM_002661.5(PLCG2):c.3314-3C>T
|
|
|
NM_002661.5(PLCG2):c.3329G>A (p.Ser1110Asn)
|
|
|
NM_002661.5(PLCG2):c.3330C>G (p.Ser1110Arg)
|
rs2143736934
|
|
NM_002661.5(PLCG2):c.3332C>T (p.Pro1111Leu)
|
rs1597146336
|
|
NM_002661.5(PLCG2):c.3343C>G (p.Pro1115Ala)
|
rs372606303
|
|
NM_002661.5(PLCG2):c.3358G>T (p.Val1120Leu)
|
rs1254901490
|
|
NM_002661.5(PLCG2):c.337+4G>T
|
|
|
NM_002661.5(PLCG2):c.3379C>G (p.Pro1127Ala)
|
rs762731399
|
|
NM_002661.5(PLCG2):c.3384C>A (p.Asn1128Lys)
|
|
|
NM_002661.5(PLCG2):c.3388G>A (p.Ala1130Thr)
|
|
|
NM_002661.5(PLCG2):c.3395T>A (p.Leu1132Gln)
|
|
|
NM_002661.5(PLCG2):c.3397C>T (p.Arg1133Cys)
|
rs779014379
|
|
NM_002661.5(PLCG2):c.3406G>A (p.Val1136Ile)
|
|
|
NM_002661.5(PLCG2):c.3414AGA[1] (p.Glu1139del)
|
rs1597146407
|
|
NM_002661.5(PLCG2):c.3422T>A (p.Met1141Lys)
|
rs958943394
|
|
NM_002661.5(PLCG2):c.3422T>C (p.Met1141Thr)
|
|
|
NM_002661.5(PLCG2):c.3476A>G (p.Lys1159Arg)
|
|
|
NM_002661.5(PLCG2):c.3489G>T (p.Arg1163Ser)
|
|
|
NM_002661.5(PLCG2):c.348A>T (p.Lys116Asn)
|
|
|
NM_002661.5(PLCG2):c.3545_3570+7dup
|
|
|
NM_002661.5(PLCG2):c.3553G>A (p.Glu1185Lys)
|
|
|
NM_002661.5(PLCG2):c.3559C>T (p.Arg1187Trp)
|
|
|
NM_002661.5(PLCG2):c.3560G>A (p.Arg1187Gln)
|
|
|
NM_002661.5(PLCG2):c.3569T>A (p.Leu1190Gln)
|
|
|
NM_002661.5(PLCG2):c.3571-3C>T
|
|
|
NM_002661.5(PLCG2):c.3573G>C (p.Glu1191Asp)
|
rs201682723
|
|
NM_002661.5(PLCG2):c.3583G>A (p.Glu1195Lys)
|
|
|
NM_002661.5(PLCG2):c.3586C>A (p.Leu1196Ile)
|
rs1338237295
|
|
NM_002661.5(PLCG2):c.3589T>C (p.Tyr1197His)
|
rs1388794490
|
|
NM_002661.5(PLCG2):c.359_374dup (p.Gly125_Leu126insTer)
|
rs2143487402
|
|
NM_002661.5(PLCG2):c.3601C>T (p.Arg1201Cys)
|
|
|
NM_002661.5(PLCG2):c.3602G>A (p.Arg1201His)
|
|
|
NM_002661.5(PLCG2):c.3608T>C (p.Leu1203Pro)
|
|
|
NM_002661.5(PLCG2):c.3673A>G (p.Asn1225Asp)
|
|
|
NM_002661.5(PLCG2):c.3674A>T (p.Asn1225Ile)
|
|
|
NM_002661.5(PLCG2):c.3679A>T (p.Asn1227Tyr)
|
|
|
NM_002661.5(PLCG2):c.367C>G (p.Leu123Val)
|
rs1362812278
|
|
NM_002661.5(PLCG2):c.3683G>T (p.Arg1228Leu)
|
|
|
NM_002661.5(PLCG2):c.3688G>A (p.Ala1230Thr)
|
rs989710468
|
|
NM_002661.5(PLCG2):c.3689C>T (p.Ala1230Val)
|
rs542811647
|
|
NM_002661.5(PLCG2):c.3695T>C (p.Val1232Ala)
|
|
|
NM_002661.5(PLCG2):c.3701A>G (p.Glu1234Gly)
|
|
|
NM_002661.5(PLCG2):c.3704T>A (p.Phe1235Tyr)
|
|
|
NM_002661.5(PLCG2):c.371C>A (p.Ser124Tyr)
|
|
|
NM_002661.5(PLCG2):c.3729G>C (p.Gln1243His)
|
|
|
NM_002661.5(PLCG2):c.3736C>T (p.Gln1246Ter)
|
|
|
NM_002661.5(PLCG2):c.3738G>C (p.Gln1246His)
|
|
|
NM_002661.5(PLCG2):c.3747C>G (p.Cys1249Trp)
|
rs1197295448
|
|
NM_002661.5(PLCG2):c.3755+1G>A
|
|
|
NM_002661.5(PLCG2):c.3755+5G>C
|
|
|
NM_002661.5(PLCG2):c.3755+5G>T
|
rs1430068302
|
|
NM_002661.5(PLCG2):c.3761G>A (p.Arg1254Lys)
|
rs2143784279
|
|
NM_002661.5(PLCG2):c.3769A>G (p.Arg1257Gly)
|
|
|
NM_002661.5(PLCG2):c.3776G>C (p.Ser1259Thr)
|
|
|
NM_002661.5(PLCG2):c.3785A>G (p.Lys1262Arg)
|
|
|
NM_002661.5(PLCG2):c.3798G>C (p.Ter1266Tyr)
|
|
|
NM_002661.5(PLCG2):c.385T>G (p.Leu129Val)
|
rs866421259
|
|
NM_002661.5(PLCG2):c.387A>T (p.Leu129Phe)
|
|
|
NM_002661.5(PLCG2):c.388C>A (p.His130Asn)
|
|
|
NM_002661.5(PLCG2):c.390C>G (p.His130Gln)
|
|
|
NM_002661.5(PLCG2):c.398C>G (p.Ala133Gly)
|
|
|
NM_002661.5(PLCG2):c.403A>G (p.Asn135Asp)
|
|
|
NM_002661.5(PLCG2):c.413C>T (p.Thr138Met)
|
|
|
NM_002661.5(PLCG2):c.416C>T (p.Pro139Leu)
|
rs1597358022
|
|
NM_002661.5(PLCG2):c.426C>G (p.Ile142Met)
|
|
|
NM_002661.5(PLCG2):c.431+5_431+14del
|
rs1555513131
|
|
NM_002661.5(PLCG2):c.431+5_431+6insGGGTAGT
|
|
|
NM_002661.5(PLCG2):c.431+6T>C
|
|
|
NM_002661.5(PLCG2):c.445C>A (p.Gln149Lys)
|
rs2143490818
|
|
NM_002661.5(PLCG2):c.461A>T (p.Asp154Val)
|
rs1906834252
|
|
NM_002661.5(PLCG2):c.466A>T (p.Thr156Ser)
|
rs1906834407
|
|
NM_002661.5(PLCG2):c.46A>G (p.Ser16Gly)
|
|
|
NM_002661.5(PLCG2):c.480-3C>T
|
|
|
NM_002661.5(PLCG2):c.48C>G (p.Ser16Arg)
|
rs752018966
|
|
NM_002661.5(PLCG2):c.490C>T (p.Arg164Ter)
|
|
|
NM_002661.5(PLCG2):c.495G>C (p.Glu165Asp)
|
rs1243041169
|
|
NM_002661.5(PLCG2):c.506T>G (p.Ile169Ser)
|
rs1597364394
|
|
NM_002661.5(PLCG2):c.50A>G (p.Gln17Arg)
|
|
|
NM_002661.5(PLCG2):c.50A>T (p.Gln17Leu)
|
rs757826017
|
|
NM_002661.5(PLCG2):c.539C>T (p.Ala180Val)
|
rs780839015
|
|
NM_002661.5(PLCG2):c.559T>A (p.Phe187Ile)
|
|
|
NM_002661.5(PLCG2):c.560T>G (p.Phe187Cys)
|
|
|
NM_002661.5(PLCG2):c.565-18C>G
|
rs2143532379
|
|
NM_002661.5(PLCG2):c.571G>C (p.Gly191Arg)
|
|
|
NM_002661.5(PLCG2):c.572_574del (p.Gly191del)
|
rs763410656
|
|
NM_002661.5(PLCG2):c.579C>A (p.His193Gln)
|
rs201080992
|
|
NM_002661.5(PLCG2):c.598G>C (p.Glu200Gln)
|
|
|
NM_002661.5(PLCG2):c.607C>T (p.His203Tyr)
|
|
|
NM_002661.5(PLCG2):c.610C>T (p.Leu204Phe)
|
|
|
NM_002661.5(PLCG2):c.630G>T (p.Met210Ile)
|
rs1907484248
|
|
NM_002661.5(PLCG2):c.634G>C (p.Glu212Gln)
|
|
|
NM_002661.5(PLCG2):c.648+4A>T
|
rs2143532795
|
|
NM_002661.5(PLCG2):c.648+6A>G
|
|
|
NM_002661.5(PLCG2):c.648G>A (p.Ser216=)
|
|
|
NM_002661.5(PLCG2):c.64C>A (p.Leu22Met)
|
rs1423487027
|
|
NM_002661.5(PLCG2):c.653T>C (p.Leu218Pro)
|
rs2143568039
|
|
NM_002661.5(PLCG2):c.674C>T (p.Ser225Leu)
|
|
|
NM_002661.5(PLCG2):c.688C>G (p.Leu230Val)
|
|
|
NM_002661.5(PLCG2):c.691G>C (p.Gly231Arg)
|
|
|
NM_002661.5(PLCG2):c.693-20C>G
|
|
|
NM_002661.5(PLCG2):c.695A>G (p.Asn232Ser)
|
|
|
NM_002661.5(PLCG2):c.700G>A (p.Asp234Asn)
|
|
|
NM_002661.5(PLCG2):c.713C>T (p.Ala238Val)
|
|
|
NM_002661.5(PLCG2):c.721G>A (p.Val241Ile)
|
rs1908182940
|
|
NM_002661.5(PLCG2):c.733G>T (p.Asp245Tyr)
|
rs2143576325
|
|
NM_002661.5(PLCG2):c.735C>G (p.Asp245Glu)
|
|
|
NM_002661.5(PLCG2):c.739C>G (p.Gln247Glu)
|
|
|
NM_002661.5(PLCG2):c.741G>C (p.Gln247His)
|
|
|
NM_002661.5(PLCG2):c.751A>T (p.Ile251Leu)
|
|
|
NM_002661.5(PLCG2):c.766-1G>A
|
rs2143595100
|
|
NM_002661.5(PLCG2):c.768G>T (p.Glu256Asp)
|
rs745516901
|
|
NM_002661.5(PLCG2):c.770A>G (p.His257Arg)
|
|
|
NM_002661.5(PLCG2):c.776C>T (p.Ala259Val)
|
|
|
NM_002661.5(PLCG2):c.789C>A (p.Asn263Lys)
|
rs1001137639
|
|
NM_002661.5(PLCG2):c.796C>T (p.Arg266Cys)
|
|
|
NM_002661.5(PLCG2):c.797G>A (p.Arg266His)
|
|
|
NM_002661.5(PLCG2):c.811A>G (p.Lys271Glu)
|
|
|
NM_002661.5(PLCG2):c.824A>G (p.Asp275Gly)
|
|
|
NM_002661.5(PLCG2):c.826A>T (p.Thr276Ser)
|
|
|
NM_002661.5(PLCG2):c.829A>C (p.Met277Leu)
|
rs372494175
|
|
NM_002661.5(PLCG2):c.829A>G (p.Met277Val)
|
|
|
NM_002661.5(PLCG2):c.848C>G (p.Pro283Arg)
|
rs779592401
|
|
NM_002661.5(PLCG2):c.852C>A (p.Phe284Leu)
|
rs190687540
|
|
NM_002661.5(PLCG2):c.853T>G (p.Leu285Val)
|
rs1179653977
|
|
NM_002661.5(PLCG2):c.871C>G (p.Leu291Val)
|
|
|
NM_002661.5(PLCG2):c.890G>A (p.Arg297Gln)
|
|
|
NM_002661.5(PLCG2):c.899G>T (p.Ser300Ile)
|
rs764885126
|
|
NM_002661.5(PLCG2):c.906G>C (p.Trp302Cys)
|
rs1908633748
|
|
NM_002661.5(PLCG2):c.911A>G (p.Glu304Gly)
|
|
|
NM_002661.5(PLCG2):c.926T>C (p.Val309Ala)
|
|
|
NM_002661.5(PLCG2):c.942G>A (p.Met314Ile)
|
rs1555517092
|
|
NM_002661.5(PLCG2):c.949C>T (p.Pro317Ser)
|
|
|
NM_002661.5(PLCG2):c.952del (p.Leu318fs)
|
|
|
NM_002661.5(PLCG2):c.956C>G (p.Ser319Cys)
|
|
|
NM_002661.5(PLCG2):c.971C>G (p.Ser324Cys)
|
|
|
NM_002661.5(PLCG2):c.986C>A (p.Thr329Lys)
|
rs1908637761
|
|
NM_002661.5(PLCG2):c.987-7C>G
|
rs754373274
|
|
NM_002661.5(PLCG2):c.991C>G (p.Leu331Val)
|
rs2143609348
|
|
NM_002661.5(PLCG2):c.998del (p.Gly333fs)
|
|
|
NM_002796.3(PSMB4):c.472G>A (p.Gly158Arg)
|
rs777632466
|
|
NM_002801.4(PSMB10):c.629G>A (p.Gly210Asp)
|
|
|
NM_002801.4(PSMB10):c.736G>A (p.Gly246Arg)
|
|
|
NM_002834.5(PTPN11):c.1144G>A (p.Val382Ile)
|
rs1214510641
|
|
NM_002834.5(PTPN11):c.1261C>T (p.Arg421Trp)
|
rs1355732645
|
|
NM_002834.5(PTPN11):c.127C>G (p.Leu43Val)
|
rs1566164987
|
|
NM_002834.5(PTPN11):c.127C>T (p.Leu43Phe)
|
rs1566164987
|
|
NM_002834.5(PTPN11):c.1498C>G (p.Gln500Glu)
|
rs2038714548
|
|
NM_002834.5(PTPN11):c.1685C>T (p.Pro562Leu)
|
rs2038884191
|
|
NM_002834.5(PTPN11):c.222G>A (p.Leu74=)
|
rs1429492147
|
|
NM_002834.5(PTPN11):c.289G>A (p.Glu97Lys)
|
rs397507516
|
|
NM_002834.5(PTPN11):c.329A>G (p.Glu110Gly)
|
rs397507519
|
|
NM_002834.5(PTPN11):c.762ACA[2] (p.Gln257del)
|
rs397507524
|
|
NM_002834.5(PTPN11):c.770A>G (p.Gln257Arg)
|
rs2038442309
|
|
NM_002834.5(PTPN11):c.788A>G (p.Tyr263Cys)
|
rs763617831
|
|
NM_002834.5(PTPN11):c.865A>G (p.Arg289Gly)
|
rs2135901005
|
|
NM_002904.6(NELFE):c.-41A>G
|
rs886061299
|
|
NM_003036.4(SKI):c.1015A>G (p.Thr339Ala)
|
|
|
NM_003036.4(SKI):c.1019C>T (p.Ser340Phe)
|
rs557788926
|
|
NM_003036.4(SKI):c.1030C>T (p.Pro344Ser)
|
|
|
NM_003036.4(SKI):c.1043A>C (p.Glu348Ala)
|
|
|
NM_003036.4(SKI):c.104C>G (p.Pro35Arg)
|
rs397514589
|
|
NM_003036.4(SKI):c.1054C>A (p.Pro352Thr)
|
rs755862763
|
|
NM_003036.4(SKI):c.1055C>T (p.Pro352Leu)
|
|
|
NM_003036.4(SKI):c.1061G>T (p.Ser354Ile)
|
|
|
NM_003036.4(SKI):c.1067T>A (p.Leu356Gln)
|
rs1640467596
|
|
NM_003036.4(SKI):c.1076T>C (p.Leu359Ser)
|
|
|
NM_003036.4(SKI):c.1087T>A (p.Ser363Thr)
|
|
|
NM_003036.4(SKI):c.1091A>T (p.Asn364Ile)
|
rs763338270
|
|
NM_003036.4(SKI):c.1095+5T>C
|
rs2100916508
|
|
NM_003036.4(SKI):c.1095+6G>A
|
|
|
NM_003036.4(SKI):c.1095G>A (p.Lys365=)
|
|
|
NM_003036.4(SKI):c.1096-15A>G
|
|
|
NM_003036.4(SKI):c.1096-6C>G
|
|
|
NM_003036.4(SKI):c.1096-8C>G
|
|
|
NM_003036.4(SKI):c.1096A>C (p.Ser366Arg)
|
rs1269741981
|
|
NM_003036.4(SKI):c.10G>C (p.Ala4Pro)
|
rs1638560343
|
|
NM_003036.4(SKI):c.1114C>T (p.Pro372Ser)
|
|
|
NM_003036.4(SKI):c.1117C>G (p.Arg373Gly)
|
rs749507746
|
|
NM_003036.4(SKI):c.1123C>T (p.Arg375Cys)
|
rs1038237858
|
|
NM_003036.4(SKI):c.1126C>T (p.Leu376Phe)
|
|
|
NM_003036.4(SKI):c.1150C>T (p.Pro384Ser)
|
rs1242691039
|
|
NM_003036.4(SKI):c.1166G>T (p.Ser389Ile)
|
|
|
NM_003036.4(SKI):c.1177C>T (p.Leu393Phe)
|
|
|
NM_003036.4(SKI):c.1189C>T (p.Leu397Phe)
|
rs371268096
|
|
NM_003036.4(SKI):c.1192C>T (p.Pro398Ser)
|
rs1640476669
|
|
NM_003036.4(SKI):c.11C>T (p.Ala4Val)
|
rs1085307767
|
|
NM_003036.4(SKI):c.1205G>A (p.Arg402Gln)
|
rs557289756
|
|
NM_003036.4(SKI):c.1208A>C (p.Asp403Ala)
|
|
|
NM_003036.4(SKI):c.1211+2T>G
|
|
|
NM_003036.4(SKI):c.1212-3C>T
|
|
|
NM_003036.4(SKI):c.1215C>G (p.Phe405Leu)
|
rs2100918174
|
|
NM_003036.4(SKI):c.123C>G (p.Arg41=)
|
rs1233566903
|
|
NM_003036.4(SKI):c.1240G>T (p.Ala414Ser)
|
|
|
NM_003036.4(SKI):c.1255G>A (p.Val419Met)
|
|
|
NM_003036.4(SKI):c.1298C>G (p.Pro433Arg)
|
|
|
NM_003036.4(SKI):c.1298C>T (p.Pro433Leu)
|
rs748787050
|
|
NM_003036.4(SKI):c.1298del (p.Pro433fs)
|
|
|
NM_003036.4(SKI):c.1306G>A (p.Ala436Thr)
|
rs1247637685
|
|
NM_003036.4(SKI):c.1307C>T (p.Ala436Val)
|
|
|
NM_003036.4(SKI):c.1315G>T (p.Val439Phe)
|
rs575093513
|
|
NM_003036.4(SKI):c.1322G>A (p.Arg441Gln)
|
|
|
NM_003036.4(SKI):c.1327C>G (p.Pro443Ala)
|
rs1569860183
|
|
NM_003036.4(SKI):c.1328C>T (p.Pro443Leu)
|
rs1640493986
|
|
NM_003036.4(SKI):c.1346G>C (p.Cys449Ser)
|
rs2100918643
|
|
NM_003036.4(SKI):c.1354C>A (p.Pro452Thr)
|
rs1417738788
|
|
NM_003036.4(SKI):c.1363C>T (p.Arg455Trp)
|
rs1640495570
|
|
NM_003036.4(SKI):c.1376T>G (p.Val459Gly)
|
|
|
NM_003036.4(SKI):c.137C>T (p.Ala46Val)
|
|
|
NM_003036.4(SKI):c.1388G>A (p.Gly463Glu)
|
rs1640496768
|
|
NM_003036.4(SKI):c.1391C>T (p.Ala464Val)
|
|
|
NM_003036.4(SKI):c.1394C>T (p.Pro465Leu)
|
|
|
NM_003036.4(SKI):c.139T>G (p.Tyr47Asp)
|
|
|
NM_003036.4(SKI):c.1408C>T (p.Pro470Ser)
|
|
|
NM_003036.4(SKI):c.1411G>A (p.Val471Met)
|
rs745717087
|
|
NM_003036.4(SKI):c.1415C>T (p.Ala472Val)
|
|
|
NM_003036.4(SKI):c.1418C>T (p.Ala473Val)
|
rs1198385228
|
|
NM_003036.4(SKI):c.1434G>C (p.Lys478Asn)
|
|
|
NM_003036.4(SKI):c.1439CGGAGG[1] (p.Ala482_Glu483del)
|
rs762410895
|
|
NM_003036.4(SKI):c.1469A>G (p.Glu490Gly)
|
|
|
NM_003036.4(SKI):c.1474+8_1474+9del
|
|
|
NM_003036.4(SKI):c.1475T>C (p.Phe492Ser)
|
|
|
NM_003036.4(SKI):c.1477A>T (p.Thr493Ser)
|
|
|
NM_003036.4(SKI):c.1478CCT[2] (p.Ser495del)
|
|
|
NM_003036.4(SKI):c.1485_1487del (p.Leu496del)
|
rs1640510054
|
|
NM_003036.4(SKI):c.1488G>C (p.Leu496Phe)
|
|
|
NM_003036.4(SKI):c.1493C>T (p.Ser498Leu)
|
|
|
NM_003036.4(SKI):c.1505C>G (p.Pro502Arg)
|
|
|
NM_003036.4(SKI):c.1512T>G (p.Phe504Leu)
|
|
|
NM_003036.4(SKI):c.1555C>T (p.Arg519Cys)
|
rs775800782
|
|
NM_003036.4(SKI):c.1556G>T (p.Arg519Leu)
|
rs376322470
|
|
NM_003036.4(SKI):c.1564C>T (p.Pro522Ser)
|
rs774937962
|
|
NM_003036.4(SKI):c.1567T>G (p.Ser523Ala)
|
|
|
NM_003036.4(SKI):c.157A>C (p.Lys53Gln)
|
|
|
NM_003036.4(SKI):c.1581TGC[1] (p.Ala530del)
|
rs863223725
|
|
NM_003036.4(SKI):c.1582G>T (p.Ala528Ser)
|
|
|
NM_003036.4(SKI):c.1589C>T (p.Ala530Val)
|
|
|
NM_003036.4(SKI):c.1592C>T (p.Pro531Leu)
|
|
|
NM_003036.4(SKI):c.160G>A (p.Glu54Lys)
|
|
|
NM_003036.4(SKI):c.1637G>T (p.Arg546Leu)
|
|
|
NM_003036.4(SKI):c.163G>A (p.Ala55Thr)
|
rs769506718
|
|
NM_003036.4(SKI):c.1642G>T (p.Ala548Ser)
|
rs1434790266
|
|
NM_003036.4(SKI):c.164C>T (p.Ala55Val)
|
|
|
NM_003036.4(SKI):c.1651G>T (p.Gly551Cys)
|
rs1225179301
|
|
NM_003036.4(SKI):c.1654G>C (p.Gly552Arg)
|
|
|
NM_003036.4(SKI):c.1690C>G (p.His564Asp)
|
rs1640518223
|
|
NM_003036.4(SKI):c.1706T>C (p.Met569Thr)
|
|
|
NM_003036.4(SKI):c.1726A>C (p.Lys576Gln)
|
|
|
NM_003036.4(SKI):c.1738G>A (p.Ala580Thr)
|
rs1640519904
|
|
NM_003036.4(SKI):c.173_178dup (p.Ala59_Val60insAlaAla)
|
|
|
NM_003036.4(SKI):c.1741C>G (p.Leu581Val)
|
|
|
NM_003036.4(SKI):c.1751A>G (p.Lys584Arg)
|
rs1569862379
|
|
NM_003036.4(SKI):c.1754G>A (p.Arg585His)
|
rs1251950898
|
|
NM_003036.4(SKI):c.1767+1G>C
|
|
|
NM_003036.4(SKI):c.1768-3C>T
|
|
|
NM_003036.4(SKI):c.1774G>C (p.Glu592Gln)
|
rs1569865485
|
|
NM_003036.4(SKI):c.1775_1789del (p.Glu592_Val596del)
|
rs1640564388
|
|
NM_003036.4(SKI):c.1784G>T (p.Arg595Leu)
|
|
|
NM_003036.4(SKI):c.1786G>T (p.Val596Leu)
|
rs774196267
|
|
NM_003036.4(SKI):c.178G>C (p.Val60Leu)
|
|
|
NM_003036.4(SKI):c.1807C>T (p.Arg603Trp)
|
rs1640565489
|
|
NM_003036.4(SKI):c.1828C>T (p.Arg610Cys)
|
rs863223727
|
|
NM_003036.4(SKI):c.182C>T (p.Pro61Leu)
|
rs1557806444
|
|
NM_003036.4(SKI):c.1848C>G (p.Ile616Met)
|
rs1044806468
|
|
NM_003036.4(SKI):c.184G>T (p.Ala62Ser)
|
|
|
NM_003036.4(SKI):c.1861G>A (p.Ala621Thr)
|
|
|
NM_003036.4(SKI):c.1866G>C (p.Glu622Asp)
|
|
|
NM_003036.4(SKI):c.1871AGA[2] (p.Lys626del)
|
rs863223726
|
|
NM_003036.4(SKI):c.1879A>G (p.Met627Val)
|
rs2100924200
|
|
NM_003036.4(SKI):c.1901G>A (p.Arg634Gln)
|
|
|
NM_003036.4(SKI):c.190_191delinsTC (p.Val64Ser)
|
|
|
NM_003036.4(SKI):c.1918G>A (p.Glu640Lys)
|
rs1640570925
|
|
NM_003036.4(SKI):c.191_196dup (p.Val64_Pro65dup)
|
rs1553189874
|
|
NM_003036.4(SKI):c.1942C>G (p.Arg648Gly)
|
rs555623960
|
|
NM_003036.4(SKI):c.1950C>T (p.Cys650=)
|
|
|
NM_003036.4(SKI):c.195_196delinsAC (p.Ala66Pro)
|
|
|
NM_003036.4(SKI):c.1966_1967insTCCCAGCCGGAAAGGCCTTGGAGCAGAAGCCAGGCCCGGGACCACGTTCCGTGCGTGCCCCCCCGA (p.Ala656delinsValProAlaGlyLysAlaLeuGluGlnLysProGlyProGlyProArgSerValArgAlaProProThr)
|
|
|
NM_003036.4(SKI):c.196G>A (p.Ala66Thr)
|
|
|
NM_003036.4(SKI):c.196G>C (p.Ala66Pro)
|
rs1212316098
|
|
NM_003036.4(SKI):c.1972C>T (p.Arg658Cys)
|
|
|
NM_003036.4(SKI):c.1993G>A (p.Ala665Thr)
|
rs1569866460
|
|
NM_003036.4(SKI):c.1998+1G>T
|
|
|
NM_003036.4(SKI):c.1998+6C>T
|
rs1265118842
|
|
NM_003036.4(SKI):c.199_200delinsAA (p.Ala67Asn)
|
|
|
NM_003036.4(SKI):c.2006A>G (p.Asp669Gly)
|
|
|
NM_003036.4(SKI):c.2009T>G (p.Leu670Arg)
|
rs1060502673
|
|
NM_003036.4(SKI):c.2011C>G (p.Gln671Glu)
|
|
|
NM_003036.4(SKI):c.2027A>G (p.His676Arg)
|
|
|
NM_003036.4(SKI):c.2028C>G (p.His676Gln)
|
rs1203179478
|
|
NM_003036.4(SKI):c.2032G>A (p.Glu678Lys)
|
|
|
NM_003036.4(SKI):c.2053C>T (p.Arg685Trp)
|
|
|
NM_003036.4(SKI):c.2057C>G (p.Ala686Gly)
|
|
|
NM_003036.4(SKI):c.2057_2071dup (p.Arg690_Glu691insAlaAspLeuLeuArg)
|
rs2100925789
|
|
NM_003036.4(SKI):c.205G>C (p.Glu69Gln)
|
|
|
NM_003036.4(SKI):c.2061C>A (p.Asp687Glu)
|
rs1021794039
|
|
NM_003036.4(SKI):c.2068C>T (p.Arg690Trp)
|
|
|
NM_003036.4(SKI):c.206A>G (p.Glu69Gly)
|
|
|
NM_003036.4(SKI):c.2076C>T (p.Arg692=)
|
|
|
NM_003036.4(SKI):c.2081C>T (p.Ala694Val)
|
|
|
NM_003036.4(SKI):c.2083C>T (p.Arg695Trp)
|
rs1347331671
|
|
NM_003036.4(SKI):c.2092C>G (p.Leu698Val)
|
rs766929334
|
|
NM_003036.4(SKI):c.2111A>G (p.Glu704Gly)
|
rs1553201549
|
|
NM_003036.4(SKI):c.2120A>G (p.Glu707Gly)
|
rs2100926034
|
|
NM_003036.4(SKI):c.2141G>T (p.Arg714Leu)
|
|
|
NM_003036.4(SKI):c.2144C>T (p.Pro715Leu)
|
rs1640595714
|
|
NM_003036.4(SKI):c.2146G>A (p.Glu716Lys)
|
rs1640595885
|
|
NM_003036.4(SKI):c.214C>T (p.Pro72Ser)
|
|
|
NM_003036.4(SKI):c.2152_*3dup (p.Ala717_Ter729=)
|
rs1557854927
|
|
NM_003036.4(SKI):c.2153C>G (p.Ala718Gly)
|
rs863223721
|
|
NM_003036.4(SKI):c.2154_*4dup (p.Ala718_Ter729=)
|
rs1308786369
|
|
NM_003036.4(SKI):c.2165G>T (p.Gly722Val)
|
rs1488554459
|
|
NM_003036.4(SKI):c.2173G>C (p.Glu725Gln)
|
rs1640597058
|
|
NM_003036.4(SKI):c.2174A>G (p.Glu725Gly)
|
|
|
NM_003036.4(SKI):c.217G>A (p.Val73Met)
|
|
|
NM_003036.4(SKI):c.2182C>G (p.Pro728Ala)
|
|
|
NM_003036.4(SKI):c.2185del (p.Ter729ArgextTer?)
|
|
|
NM_003036.4(SKI):c.2186_*9dup (p.Ter729=)
|
rs1640597997
|
|
NM_003036.4(SKI):c.219G>A (p.Val73=)
|
rs1638568131
|
|
NM_003036.4(SKI):c.220C>G (p.Leu74Val)
|
|
|
NM_003036.4(SKI):c.229C>T (p.Pro77Ser)
|
rs1370601989
|
|
NM_003036.4(SKI):c.22C>G (p.Arg8Gly)
|
rs1254990952
|
|
NM_003036.4(SKI):c.240GCC[5] (p.Pro84dup)
|
rs746731483
|
|
NM_003036.4(SKI):c.241C>G (p.Pro81Ala)
|
rs778291636
|
|
NM_003036.4(SKI):c.248C>T (p.Pro83Leu)
|
rs1060502672
|
|
NM_003036.4(SKI):c.254T>G (p.Val85Gly)
|
|
|
NM_003036.4(SKI):c.271T>G (p.Phe91Val)
|
rs1638570021
|
|
NM_003036.4(SKI):c.272T>G (p.Phe91Cys)
|
|
|
NM_003036.4(SKI):c.278C>T (p.Pro93Leu)
|
rs749071609
|
|
NM_003036.4(SKI):c.304G>A (p.Glu102Lys)
|
rs1638570854
|
|
NM_003036.4(SKI):c.311T>C (p.Val104Ala)
|
rs886039149
|
|
NM_003036.4(SKI):c.320G>A (p.Gly107Asp)
|
|
|
NM_003036.4(SKI):c.352G>A (p.Glu118Lys)
|
rs869025525
|
|
NM_003036.4(SKI):c.358C>T (p.Arg120Cys)
|
rs1569658411
|
|
NM_003036.4(SKI):c.35A>T (p.Gln12Leu)
|
|
|
NM_003036.4(SKI):c.36G>C (p.Gln12His)
|
|
|
NM_003036.4(SKI):c.383A>T (p.Asn128Ile)
|
|
|
NM_003036.4(SKI):c.414G>T (p.Gln138His)
|
|
|
NM_003036.4(SKI):c.419A>C (p.Asn140Thr)
|
rs2100790187
|
|
NM_003036.4(SKI):c.433G>A (p.Glu145Lys)
|
|
|
NM_003036.4(SKI):c.442A>G (p.Ile148Val)
|
|
|
NM_003036.4(SKI):c.452C>G (p.Ser151Trp)
|
|
|
NM_003036.4(SKI):c.459C>T (p.Cys153=)
|
rs1638575263
|
|
NM_003036.4(SKI):c.463G>T (p.Ala155Ser)
|
rs867726673
|
|
NM_003036.4(SKI):c.471G>C (p.Gln157His)
|
|
|
NM_003036.4(SKI):c.487G>A (p.Val163Ile)
|
rs878854599
|
|
NM_003036.4(SKI):c.493G>A (p.Gly165Ser)
|
rs1569658999
|
|
NM_003036.4(SKI):c.547G>A (p.Glu183Lys)
|
rs1290478159
|
|
NM_003036.4(SKI):c.572A>G (p.Tyr191Cys)
|
rs758199656
|
|
NM_003036.4(SKI):c.574G>A (p.Gly192Ser)
|
rs1638578159
|
|
NM_003036.4(SKI):c.584A>G (p.Tyr195Cys)
|
rs1474048036
|
|
NM_003036.4(SKI):c.587C>T (p.Pro196Leu)
|
rs1638578545
|
|
NM_003036.4(SKI):c.599A>G (p.Lys200Arg)
|
|
|
NM_003036.4(SKI):c.602A>G (p.Lys201Arg)
|
rs2100790534
|
|
NM_003036.4(SKI):c.613G>A (p.Ala205Thr)
|
rs2100790567
|
|
NM_003036.4(SKI):c.622G>C (p.Ala208Pro)
|
rs761138564
|
|
NM_003036.4(SKI):c.623C>T (p.Ala208Val)
|
rs1276237576
|
|
NM_003036.4(SKI):c.628G>T (p.Gly210Cys)
|
|
|
NM_003036.4(SKI):c.637C>T (p.Leu213Phe)
|
|
|
NM_003036.4(SKI):c.647G>T (p.Arg216Leu)
|
|
|
NM_003036.4(SKI):c.655C>T (p.Arg219Cys)
|
rs1226163559
|
|
NM_003036.4(SKI):c.687G>C (p.Lys229Asn)
|
rs750391739
|
|
NM_003036.4(SKI):c.6GGC[4] (p.Ala5dup)
|
rs1638560188
|
|
NM_003036.4(SKI):c.718C>G (p.Pro240Ala)
|
|
|
NM_003036.4(SKI):c.723C>A (p.Ser241Arg)
|
|
|
NM_003036.4(SKI):c.723C>G (p.Ser241Arg)
|
rs2100790799
|
|
NM_003036.4(SKI):c.757A>T (p.Met253Leu)
|
rs767352419
|
|
NM_003036.4(SKI):c.759G>T (p.Met253Ile)
|
|
|
NM_003036.4(SKI):c.763C>T (p.Pro255Ser)
|
|
|
NM_003036.4(SKI):c.767C>T (p.Pro256Leu)
|
rs2100790888
|
|
NM_003036.4(SKI):c.827T>A (p.Phe276Tyr)
|
rs1557807366
|
|
NM_003036.4(SKI):c.83C>T (p.Ser28Phe)
|
rs1569656949
|
|
NM_003036.4(SKI):c.840C>G (p.Asn280Lys)
|
|
|
NM_003036.4(SKI):c.847G>A (p.Ala283Thr)
|
|
|
NM_003036.4(SKI):c.848C>T (p.Ala283Val)
|
|
|
NM_003036.4(SKI):c.853A>T (p.Ile285Phe)
|
rs2100791027
|
|
NM_003036.4(SKI):c.863G>T (p.Ser288Ile)
|
rs2100791046
|
|
NM_003036.4(SKI):c.872A>G (p.Tyr291Cys)
|
rs1638585706
|
|
NM_003036.4(SKI):c.879C>T (p.Gly293=)
|
rs543890429
|
|
NM_003036.4(SKI):c.896G>C (p.Arg299Pro)
|
rs1482824984
|
|
NM_003036.4(SKI):c.898C>T (p.Leu300Phe)
|
rs1569660908
|
|
NM_003036.4(SKI):c.89G>A (p.Ser30Asn)
|
|
|
NM_003036.4(SKI):c.8C>A (p.Ala3Glu)
|
|
|
NM_003036.4(SKI):c.8C>G (p.Ala3Gly)
|
rs1553189801
|
|
NM_003036.4(SKI):c.8C>T (p.Ala3Val)
|
rs1553189801
|
|
NM_003036.4(SKI):c.901G>C (p.Gly301Arg)
|
|
|
NM_003036.4(SKI):c.937T>A (p.Tyr313Asn)
|
|
|
NM_003036.4(SKI):c.937T>G (p.Tyr313Asp)
|
|
|
NM_003036.4(SKI):c.968G>T (p.Arg323Leu)
|
rs1638589251
|
|
NM_003036.4(SKI):c.969G>C (p.Arg323=)
|
rs747642639
|
|
NM_003036.4(SKI):c.972CTC[1] (p.Ser326del)
|
|
|
NM_003036.4(SKI):c.983C>T (p.Pro328Leu)
|
|
|
NM_003048.6(SLC9A2):c.2173del (p.Gln725fs)
|
rs864309496
|
|
NM_003183.6(ADAM17):c.1055A>G (p.Tyr352Cys)
|
|
|
NM_003183.6(ADAM17):c.1093T>G (p.Cys365Gly)
|
|
|
NM_003183.6(ADAM17):c.1114C>G (p.Pro372Ala)
|
rs1226429049
|
|
NM_003183.6(ADAM17):c.1118T>G (p.Val373Gly)
|
|
|
NM_003183.6(ADAM17):c.1132A>G (p.Ile378Val)
|
rs1664137750
|
|
NM_003183.6(ADAM17):c.1133T>A (p.Ile378Asn)
|
|
|
NM_003183.6(ADAM17):c.1241A>T (p.Glu414Val)
|
rs2125007795
|
|
NM_003183.6(ADAM17):c.126C>T (p.Tyr42=)
|
|
|
NM_003183.6(ADAM17):c.1274C>T (p.Pro425Leu)
|
rs1663648695
|
|
NM_003183.6(ADAM17):c.1300G>A (p.Val434Ile)
|
|
|
NM_003183.6(ADAM17):c.1331A>G (p.His444Arg)
|
rs1558506921
|
|
NM_003183.6(ADAM17):c.13C>G (p.Leu5Val)
|
|
|
NM_003183.6(ADAM17):c.1418G>A (p.Arg473His)
|
|
|
NM_003183.6(ADAM17):c.1477A>G (p.Ile493Val)
|
|
|
NM_003183.6(ADAM17):c.1483T>C (p.Tyr495His)
|
rs1340914501
|
|
NM_003183.6(ADAM17):c.1495G>A (p.Asp499Asn)
|
rs774191569
|
|
NM_003183.6(ADAM17):c.1545-7_1545-5del
|
rs372560151
|
|
NM_003183.6(ADAM17):c.1568A>C (p.Lys523Thr)
|
|
|
NM_003183.6(ADAM17):c.1621A>G (p.Thr541Ala)
|
|
|
NM_003183.6(ADAM17):c.1631G>C (p.Gly544Ala)
|
|
|
NM_003183.6(ADAM17):c.1637C>T (p.Ser546Phe)
|
rs2124990793
|
|
NM_003183.6(ADAM17):c.1643G>A (p.Cys548Tyr)
|
rs1663042903
|
|
NM_003183.6(ADAM17):c.1658G>C (p.Ser553Thr)
|
rs1662677874
|
|
NM_003183.6(ADAM17):c.1673C>T (p.Pro558Leu)
|
rs1662676771
|
|
NM_003183.6(ADAM17):c.1696G>T (p.Val566Phe)
|
|
|
NM_003183.6(ADAM17):c.1718G>A (p.Cys573Tyr)
|
rs1184105835
|
|
NM_003183.6(ADAM17):c.1735A>C (p.Ile579Leu)
|
|
|
NM_003183.6(ADAM17):c.1754A>T (p.Glu585Val)
|
|
|
NM_003183.6(ADAM17):c.1817A>C (p.Asp606Ala)
|
rs1572880990
|
|
NM_003183.6(ADAM17):c.1829G>A (p.Arg610His)
|
rs140536552
|
|
NM_003183.6(ADAM17):c.1844T>G (p.Val615Gly)
|
|
|
NM_003183.6(ADAM17):c.1846G>A (p.Asp616Asn)
|
|
|
NM_003183.6(ADAM17):c.1860G>T (p.Lys620Asn)
|
|
|
NM_003183.6(ADAM17):c.1880G>A (p.Gly627Glu)
|
rs2124966841
|
|
NM_003183.6(ADAM17):c.1907A>G (p.Asp636Gly)
|
rs1048485082
|
|
NM_003183.6(ADAM17):c.1914+3_1914+6del
|
rs769369491
|
|
NM_003183.6(ADAM17):c.1914+5G>A
|
rs2124966714
|
|
NM_003183.6(ADAM17):c.1919A>T (p.Lys640Ile)
|
rs1553356735
|
|
NM_003183.6(ADAM17):c.193C>T (p.His65Tyr)
|
rs1292921269
|
|
NM_003183.6(ADAM17):c.1965C>A (p.Phe655Leu)
|
|
|
NM_003183.6(ADAM17):c.1979G>A (p.Ser660Asn)
|
rs2124963317
|
|
NM_003183.6(ADAM17):c.1993+4G>T
|
rs376877494
|
|
NM_003183.6(ADAM17):c.1995A>T (p.Gly665=)
|
|
|
NM_003183.6(ADAM17):c.2014A>G (p.Ile672Val)
|
rs1298570790
|
|
NM_003183.6(ADAM17):c.205C>G (p.Leu69Val)
|
|
|
NM_003183.6(ADAM17):c.2082+4A>G
|
|
|
NM_003183.6(ADAM17):c.2113_2114del (p.Leu705fs)
|
|
|
NM_003183.6(ADAM17):c.2122T>C (p.Phe708Leu)
|
|
|
NM_003183.6(ADAM17):c.2168C>T (p.Ser723Leu)
|
rs144721235
|
|
NM_003183.6(ADAM17):c.2169_2178del (p.Val724fs)
|
rs1662038678
|
|
NM_003183.6(ADAM17):c.218C>T (p.Ser73Leu)
|
rs986450748
|
|
NM_003183.6(ADAM17):c.2191C>G (p.Pro731Ala)
|
rs889062988
|
|
NM_003183.6(ADAM17):c.220G>A (p.Ala74Thr)
|
rs2125040739
|
|
NM_003183.6(ADAM17):c.2212C>T (p.Arg738Cys)
|
rs370064783
|
|
NM_003183.6(ADAM17):c.2219_2220delinsCA (p.Gln740Pro)
|
|
|
NM_003183.6(ADAM17):c.2227C>G (p.Pro743Ala)
|
|
|
NM_003183.6(ADAM17):c.2237dup (p.Ser747fs)
|
rs1662030392
|
|
NM_003183.6(ADAM17):c.2242G>T (p.Ala748Ser)
|
rs761025971
|
|
NM_003183.6(ADAM17):c.2248G>A (p.Ala750Thr)
|
rs374624230
|
|
NM_003183.6(ADAM17):c.2251G>C (p.Ala751Pro)
|
rs772616091
|
|
NM_003183.6(ADAM17):c.2268C>G (p.His756Gln)
|
|
|
NM_003183.6(ADAM17):c.2284A>T (p.Ile762Phe)
|
rs1558489720
|
|
NM_003183.6(ADAM17):c.2288A>G (p.Gln763Arg)
|
rs2124948504
|
|
NM_003183.6(ADAM17):c.230+4A>G
|
rs755484483
|
|
NM_003183.6(ADAM17):c.2308T>C (p.Ser770Pro)
|
rs1662022623
|
|
NM_003183.6(ADAM17):c.2308_2309del (p.Ser770fs)
|
|
|
NM_003183.6(ADAM17):c.230G>C (p.Arg77Thr)
|
rs2125040735
|
|
NM_003183.6(ADAM17):c.2383C>G (p.Leu795Val)
|
|
|
NM_003183.6(ADAM17):c.2390del (p.Asp797fs)
|
rs2124947949
|
|
NM_003183.6(ADAM17):c.2398G>T (p.Val800Phe)
|
rs780850654
|
|
NM_003183.6(ADAM17):c.2411A>G (p.Glu804Gly)
|
|
|
NM_003183.6(ADAM17):c.2414dup (p.Ala806fs)
|
rs2124947833
|
|
NM_003183.6(ADAM17):c.2416G>C (p.Ala806Pro)
|
rs761391373
|
|
NM_003183.6(ADAM17):c.2416G>T (p.Ala806Ser)
|
rs761391373
|
|
NM_003183.6(ADAM17):c.2425T>C (p.Phe809Leu)
|
rs2124947759
|
|
NM_003183.6(ADAM17):c.2444A>G (p.Asn815Ser)
|
rs2124947605
|
|
NM_003183.6(ADAM17):c.2445dup (p.Arg816fs)
|
rs2124947599
|
|
NM_003183.6(ADAM17):c.2464_2466dup (p.Thr822dup)
|
rs1662005144
|
|
NM_003183.6(ADAM17):c.2465_2466del (p.Thr822fs)
|
rs1222616180
|
|
NM_003183.6(ADAM17):c.275A>C (p.Gln92Pro)
|
rs2125035520
|
|
NM_003183.6(ADAM17):c.276A>C (p.Gln92His)
|
|
|
NM_003183.6(ADAM17):c.289G>A (p.Val97Met)
|
rs377513734
|
|
NM_003183.6(ADAM17):c.316G>A (p.Glu106Lys)
|
rs756840167
|
|
NM_003183.6(ADAM17):c.339C>G (p.Asp113Glu)
|
rs1664974310
|
|
NM_003183.6(ADAM17):c.34G>C (p.Val12Leu)
|
rs1186689463
|
|
NM_003183.6(ADAM17):c.373T>A (p.Ser125Thr)
|
rs772557660
|
|
NM_003183.6(ADAM17):c.38C>T (p.Pro13Leu)
|
rs1340974006
|
|
NM_003183.6(ADAM17):c.395G>A (p.Arg132Lys)
|
rs935773047
|
|
NM_003183.6(ADAM17):c.42C>A (p.Phe14Leu)
|
rs578189296
|
|
NM_003183.6(ADAM17):c.434C>A (p.Ala145Asp)
|
rs1664940070
|
|
NM_003183.6(ADAM17):c.43G>A (p.Val15Met)
|
|
|
NM_003183.6(ADAM17):c.446T>C (p.Ile149Thr)
|
rs1664939081
|
|
NM_003183.6(ADAM17):c.451-5T>G
|
|
|
NM_003183.6(ADAM17):c.460A>G (p.Arg154Gly)
|
rs2125027565
|
|
NM_003183.6(ADAM17):c.470A>G (p.Asn157Ser)
|
rs1664592938
|
|
NM_003183.6(ADAM17):c.478A>G (p.Lys160Glu)
|
rs1664592673
|
|
NM_003183.6(ADAM17):c.492G>A (p.Met164Ile)
|
|
|
NM_003183.6(ADAM17):c.512A>T (p.Asp171Val)
|
|
|
NM_003183.6(ADAM17):c.514A>G (p.Ile172Val)
|
rs1664590884
|
|
NM_003183.6(ADAM17):c.523G>A (p.Val175Ile)
|
|
|
NM_003183.6(ADAM17):c.529C>T (p.Arg177Cys)
|
rs1204442125
|
|
NM_003183.6(ADAM17):c.535C>A (p.Gln179Lys)
|
rs2125027503
|
|
NM_003183.6(ADAM17):c.562A>G (p.Lys188Glu)
|
|
|
NM_003183.6(ADAM17):c.571A>C (p.Asn191His)
|
rs2125027486
|
|
NM_003183.6(ADAM17):c.575A>G (p.Glu192Gly)
|
rs2125027483
|
|
NM_003183.6(ADAM17):c.591A>C (p.Lys197Asn)
|
|
|
NM_003183.6(ADAM17):c.59C>G (p.Pro20Arg)
|
rs749144062
|
|
NM_003183.6(ADAM17):c.61C>T (p.Pro21Ser)
|
|
|
NM_003183.6(ADAM17):c.661A>T (p.Met221Leu)
|
|
|
NM_003183.6(ADAM17):c.671C>T (p.Thr224Met)
|
rs548923032
|
|
NM_003183.6(ADAM17):c.705C>G (p.Phe235Leu)
|
rs1553364641
|
|
NM_003183.6(ADAM17):c.738_740del (p.Thr248del)
|
rs777536319
|
|
NM_003183.6(ADAM17):c.74G>A (p.Gly25Asp)
|
rs2125049728
|
|
NM_003183.6(ADAM17):c.764T>C (p.Ile255Thr)
|
rs2125023419
|
|
NM_003183.6(ADAM17):c.768C>A (p.Asp256Glu)
|
rs2125023411
|
|
NM_003183.6(ADAM17):c.785A>G (p.Tyr262Cys)
|
rs1664384427
|
|
NM_003183.6(ADAM17):c.796T>C (p.Ser266Pro)
|
rs1664383899
|
|
NM_003183.6(ADAM17):c.844-6G>A
|
|
|
NM_003183.6(ADAM17):c.869A>G (p.Glu290Gly)
|
|
|
NM_003183.6(ADAM17):c.948G>A (p.Met316Ile)
|
rs367951580
|
|
NM_003183.6(ADAM17):c.94C>T (p.Leu32Phe)
|
rs779147649
|
|
NM_003200.5(TCF3):c.1303C>G (p.Leu435Val)
|
|
|
NM_003200.5(TCF3):c.632C>A (p.Pro211His)
|
|
|
NM_003200.5(TCF3):c.760G>T (p.Gly254Cys)
|
|
|
NM_003238.6(TGFB2):c.*1233dup
|
rs532376886
|
|
NM_003238.6(TGFB2):c.*1431A>C
|
rs1660199096
|
|
NM_003238.6(TGFB2):c.*2359_*2361del
|
rs3054943
|
|
NM_003238.6(TGFB2):c.*2361del
|
rs3054943
|
|
NM_003238.6(TGFB2):c.*2421G>T
|
rs1660233472
|
|
NM_003238.6(TGFB2):c.*2617T>C
|
rs886045992
|
|
NM_003238.6(TGFB2):c.*2980G>C
|
rs886045993
|
|
NM_003238.6(TGFB2):c.*3076G>A
|
rs1660255565
|
|
NM_003238.6(TGFB2):c.*3141A>G
|
rs886045994
|
|
NM_003238.6(TGFB2):c.*3210C>T
|
rs767736529
|
|
NM_003238.6(TGFB2):c.*323CAA[9]
|
rs11118106
|
|
NM_003238.6(TGFB2):c.*338C>T
|
rs1660159523
|
|
NM_003238.6(TGFB2):c.*772C>T
|
rs886045982
|
|
NM_003238.6(TGFB2):c.-101A>G
|
rs1656685944
|
|
NM_003238.6(TGFB2):c.-1237G>C
|
rs1656628678
|
|
NM_003238.6(TGFB2):c.-1271A>G
|
rs886045958
|
|
NM_003238.6(TGFB2):c.-1278AAGAGA[3]
|
rs886045957
|
|
NM_003238.6(TGFB2):c.-514T>C
|
rs1656669231
|
|
NM_003238.6(TGFB2):c.-542C>T
|
rs886045973
|
|
NM_003238.6(TGFB2):c.-644AC[13]
|
rs151329324
|
|
NM_003238.6(TGFB2):c.-644AC[14]
|
rs151329324
|
|
NM_003238.6(TGFB2):c.-644AC[15]
|
rs151329324
|
|
NM_003238.6(TGFB2):c.-645_-644insCCACGC
|
rs886045967
|
|
NM_003238.6(TGFB2):c.-646G>A
|
rs886045968
|
|
NM_003238.6(TGFB2):c.-652GCACAC[3]
|
rs765496001
|
|
NM_003238.6(TGFB2):c.-663C>T
|
rs886045965
|
|
NM_003238.6(TGFB2):c.-699A>C
|
rs886045961
|
|
NM_003238.6(TGFB2):c.-758G>C
|
rs954024485
|
|
NM_003238.6(TGFB2):c.1009G>A (p.Glu337Lys)
|
rs1476361240
|
|
NM_003238.6(TGFB2):c.100C>T (p.Arg34Cys)
|
rs1571820734
|
|
NM_003238.6(TGFB2):c.101G>A (p.Arg34His)
|
rs1064796462
|
|
NM_003238.6(TGFB2):c.1021T>C (p.Tyr341His)
|
|
|
NM_003238.6(TGFB2):c.1027G>A (p.Ala343Thr)
|
rs779554274
|
|
NM_003238.6(TGFB2):c.1029C>T (p.Ala343=)
|
rs886045979
|
|
NM_003238.6(TGFB2):c.1033T>C (p.Phe345Leu)
|
rs748732392
|
|
NM_003238.6(TGFB2):c.1043G>A (p.Gly348Glu)
|
rs1660008608
|
|
NM_003238.6(TGFB2):c.1048T>C (p.Cys350Arg)
|
|
|
NM_003238.6(TGFB2):c.1062G>A (p.Trp354Ter)
|
rs1558264130
|
|
NM_003238.6(TGFB2):c.1070A>G (p.Asp357Gly)
|
|
|
NM_003238.6(TGFB2):c.1086+1G>A
|
rs1571904338
|
|
NM_003238.6(TGFB2):c.1100A>G (p.Tyr367Cys)
|
|
|
NM_003238.6(TGFB2):c.1105A>G (p.Thr369Ala)
|
|
|
NM_003238.6(TGFB2):c.1118A>G (p.Glu373Gly)
|
|
|
NM_003238.6(TGFB2):c.111C>G (p.Ile37Met)
|
|
|
NM_003238.6(TGFB2):c.112G>C (p.Glu38Gln)
|
|
|
NM_003238.6(TGFB2):c.1136G>T (p.Cys379Phe)
|
rs1660141597
|
|
NM_003238.6(TGFB2):c.1140C>A (p.Cys380Ter)
|
|
|
NM_003238.6(TGFB2):c.1150G>C (p.Asp384His)
|
|
|
NM_003238.6(TGFB2):c.116C>T (p.Ala39Val)
|
rs2102527478
|
|
NM_003238.6(TGFB2):c.1186A>G (p.Lys396Glu)
|
|
|
NM_003238.6(TGFB2):c.1204C>T (p.Gln402Ter)
|
|
|
NM_003238.6(TGFB2):c.1221T>G (p.Ile407Met)
|
rs2102634488
|
|
NM_003238.6(TGFB2):c.1232G>C (p.Cys411Ser)
|
rs1553303761
|
|
NM_003238.6(TGFB2):c.1235A>C (p.Lys412Thr)
|
rs2102634517
|
|
NM_003238.6(TGFB2):c.1236dup (p.Cys413fs)
|
|
|
NM_003238.6(TGFB2):c.1237T>C (p.Cys413Arg)
|
|
|
NM_003238.6(TGFB2):c.1244A>T (p.Ter415Leu)
|
|
|
NM_003238.6(TGFB2):c.125G>A (p.Gly42Glu)
|
rs1558220033
|
|
NM_003238.6(TGFB2):c.137G>A (p.Ser46Asn)
|
rs1318854254
|
|
NM_003238.6(TGFB2):c.13G>C (p.Val5Leu)
|
rs1571820552
|
|
NM_003238.6(TGFB2):c.143T>G (p.Leu48Arg)
|
rs1553292088
|
|
NM_003238.6(TGFB2):c.152C>T (p.Thr51Ile)
|
|
|
NM_003238.6(TGFB2):c.154A>G (p.Ser52Gly)
|
rs771351240
|
|
NM_003238.6(TGFB2):c.164A>G (p.Glu55Gly)
|
rs1656700353
|
|
NM_003238.6(TGFB2):c.172C>T (p.Pro58Ser)
|
|
|
NM_003238.6(TGFB2):c.173C>T (p.Pro58Leu)
|
|
|
NM_003238.6(TGFB2):c.17T>C (p.Leu6Pro)
|
rs1553292060
|
|
NM_003238.6(TGFB2):c.193C>T (p.Pro65Ser)
|
rs747128130
|
|
NM_003238.6(TGFB2):c.197_199dup (p.Glu66_Val67insGlu)
|
|
|
NM_003238.6(TGFB2):c.19A>G (p.Ser7Gly)
|
|
|
NM_003238.6(TGFB2):c.208A>G (p.Ile70Val)
|
rs1656702743
|
|
NM_003238.6(TGFB2):c.20G>C (p.Ser7Thr)
|
rs765477784
|
|
NM_003238.6(TGFB2):c.218G>C (p.Ser73Thr)
|
|
|
NM_003238.6(TGFB2):c.244G>A (p.Ala82Thr)
|
|
|
NM_003238.6(TGFB2):c.245C>T (p.Ala82Val)
|
rs1571821016
|
|
NM_003238.6(TGFB2):c.265T>C (p.Cys89Arg)
|
|
|
NM_003238.6(TGFB2):c.268G>C (p.Glu90Gln)
|
rs749309877
|
|
NM_003238.6(TGFB2):c.294_308del (p.Ala100_Tyr104del)
|
rs398122883
|
|
NM_003238.6(TGFB2):c.299C>A (p.Ala100Asp)
|
|
|
NM_003238.6(TGFB2):c.302AGG[1] (p.Glu102del)
|
rs1656708526
|
|
NM_003238.6(TGFB2):c.305A>T (p.Glu102Val)
|
rs967581444
|
|
NM_003238.6(TGFB2):c.306G>T (p.Glu102Asp)
|
|
|
NM_003238.6(TGFB2):c.322A>T (p.Met108Leu)
|
rs1060501982
|
|
NM_003238.6(TGFB2):c.334T>C (p.Phe112Leu)
|
rs1553292141
|
|
NM_003238.6(TGFB2):c.346+4_346+7del
|
rs1558220436
|
|
NM_003238.6(TGFB2):c.346+5G>A
|
rs886042712
|
|
NM_003238.6(TGFB2):c.347-10T>A
|
rs1419643875
|
|
NM_003238.6(TGFB2):c.377A>G (p.Tyr126Cys)
|
rs2102594799
|
|
NM_003238.6(TGFB2):c.38A>G (p.His13Arg)
|
|
|
NM_003238.6(TGFB2):c.392G>A (p.Arg131Gln)
|
rs758366080
|
|
NM_003238.6(TGFB2):c.395T>C (p.Phe132Ser)
|
rs1658868781
|
|
NM_003238.6(TGFB2):c.410T>C (p.Met137Thr)
|
rs1264824521
|
|
NM_003238.6(TGFB2):c.444G>T (p.Glu148Asp)
|
|
|
NM_003238.6(TGFB2):c.445T>G (p.Phe149Val)
|
rs896156575
|
|
NM_003238.6(TGFB2):c.449G>A (p.Arg150Lys)
|
rs1658871071
|
|
NM_003238.6(TGFB2):c.458G>A (p.Arg153His)
|
rs1057518684
|
|
NM_003238.6(TGFB2):c.463C>A (p.Gln155Lys)
|
|
|
NM_003238.6(TGFB2):c.510+12TTG[12]
|
rs10482769
|
|
NM_003238.6(TGFB2):c.510+12TTG[8]
|
rs10482769
|
|
NM_003238.6(TGFB2):c.510+9C>T
|
rs1481374757
|
|
NM_003238.6(TGFB2):c.514C>T (p.Leu172Phe)
|
rs1291056000
|
|
NM_003238.6(TGFB2):c.52G>T (p.Ala18Ser)
|
rs886045975
|
|
NM_003238.6(TGFB2):c.541A>G (p.Thr181Ala)
|
|
|
NM_003238.6(TGFB2):c.542C>T (p.Thr181Ile)
|
|
|
NM_003238.6(TGFB2):c.54G>T (p.Ala18=)
|
rs781126315
|
|
NM_003238.6(TGFB2):c.553A>G (p.Ile185Val)
|
rs1558262183
|
|
NM_003238.6(TGFB2):c.559A>G (p.Ser187Gly)
|
rs759729701
|
|
NM_003238.6(TGFB2):c.560G>A (p.Ser187Asn)
|
|
|
NM_003238.6(TGFB2):c.594G>T (p.Trp198Cys)
|
rs2102626457
|
|
NM_003238.6(TGFB2):c.598T>G (p.Ser200Ala)
|
|
|
NM_003238.6(TGFB2):c.59G>A (p.Ser20Asn)
|
rs1656695125
|
|
NM_003238.6(TGFB2):c.611C>T (p.Thr204Ile)
|
rs1659896577
|
|
NM_003238.6(TGFB2):c.619G>A (p.Val207Ile)
|
rs10482810
|
|
NM_003238.6(TGFB2):c.635A>G (p.His212Arg)
|
|
|
NM_003238.6(TGFB2):c.638A>G (p.His213Arg)
|
|
|
NM_003238.6(TGFB2):c.638A>T (p.His213Leu)
|
|
|
NM_003238.6(TGFB2):c.643G>A (p.Asp215Asn)
|
rs1571901234
|
|
NM_003238.6(TGFB2):c.644-14_644-13del
|
|
|
NM_003238.6(TGFB2):c.64_66del (p.Ser22del)
|
rs2102527414
|
|
NM_003238.6(TGFB2):c.663A>T (p.Lys221Asn)
|
rs863223791
|
|
NM_003238.6(TGFB2):c.668G>A (p.Ser223Asn)
|
|
|
NM_003238.6(TGFB2):c.668G>T (p.Ser223Ile)
|
rs957164399
|
|
NM_003238.6(TGFB2):c.670T>G (p.Leu224Val)
|
rs886045978
|
|
NM_003238.6(TGFB2):c.701C>G (p.Ser234Cys)
|
|
|
NM_003238.6(TGFB2):c.734A>T (p.Glu245Val)
|
rs1659906438
|
|
NM_003238.6(TGFB2):c.739G>A (p.Glu247Lys)
|
rs1558262454
|
|
NM_003238.6(TGFB2):c.743C>T (p.Ala248Val)
|
|
|
NM_003238.6(TGFB2):c.755G>T (p.Gly252Val)
|
|
|
NM_003238.6(TGFB2):c.759_760delinsAT (p.Asp254Tyr)
|
rs1553303162
|
|
NM_003238.6(TGFB2):c.782G>A (p.Ser261Asn)
|
|
|
NM_003238.6(TGFB2):c.787G>T (p.Asp263Tyr)
|
|
|
NM_003238.6(TGFB2):c.792G>T (p.Gln264His)
|
|
|
NM_003238.6(TGFB2):c.79C>A (p.Leu27Ile)
|
|
|
NM_003238.6(TGFB2):c.809C>G (p.Thr270Ser)
|
|
|
NM_003238.6(TGFB2):c.812G>A (p.Arg271Lys)
|
|
|
NM_003238.6(TGFB2):c.821A>C (p.Asn274Thr)
|
rs559315266
|
|
NM_003238.6(TGFB2):c.831G>T (p.Lys277Asn)
|
rs1304484008
|
|
NM_003238.6(TGFB2):c.833C>T (p.Thr278Ile)
|
|
|
NM_003238.6(TGFB2):c.835C>T (p.Pro279Ser)
|
rs1659961526
|
|
NM_003238.6(TGFB2):c.844C>A (p.Leu282Met)
|
|
|
NM_003238.6(TGFB2):c.845T>C (p.Leu282Pro)
|
rs1558263254
|
|
NM_003238.6(TGFB2):c.848T>C (p.Leu283Pro)
|
rs2102628571
|
|
NM_003238.6(TGFB2):c.852G>C (p.Met284Ile)
|
|
|
NM_003238.6(TGFB2):c.874G>A (p.Glu292Lys)
|
|
|
NM_003238.6(TGFB2):c.878C>T (p.Ser293Leu)
|
|
|
NM_003238.6(TGFB2):c.915T>A (p.Asp305Glu)
|
rs1553303217
|
|
NM_003238.6(TGFB2):c.917C>A (p.Ala306Glu)
|
rs989462091
|
|
NM_003238.6(TGFB2):c.917C>T (p.Ala306Val)
|
|
|
NM_003238.6(TGFB2):c.919G>C (p.Ala307Pro)
|
|
|
NM_003238.6(TGFB2):c.923A>G (p.Tyr308Cys)
|
rs750774144
|
|
NM_003238.6(TGFB2):c.929T>A (p.Phe310Tyr)
|
rs1659965863
|
|
NM_003238.6(TGFB2):c.932+4A>G
|
rs2102628708
|
|
NM_003238.6(TGFB2):c.937G>C (p.Val313Leu)
|
|
|
NM_003238.6(TGFB2):c.949T>C (p.Cys317Arg)
|
rs1660004413
|
|
NM_003238.6(TGFB2):c.950G>C (p.Cys317Ser)
|
rs1553303351
|
|
NM_003238.6(TGFB2):c.959G>A (p.Arg320His)
|
|
|
NM_003238.6(TGFB2):c.971T>C (p.Ile324Thr)
|
rs2102630032
|
|
NM_003238.6(TGFB2):c.976T>C (p.Phe326Leu)
|
rs1660005627
|
|
NM_003238.6(TGFB2):c.978C>A (p.Phe326Leu)
|
|
|
NM_003238.6(TGFB2):c.981G>T (p.Lys327Asn)
|
rs1085307561
|
|
NM_003238.6(TGFB2):c.982A>G (p.Arg328Gly)
|
rs2102630044
|
|
NM_003238.6(TGFB2):c.999A>T (p.Lys333Asn)
|
|
|
NM_003239.5(TGFB3):c.-440CTT[2]
|
rs774422953
|
|
NM_003239.5(TGFB3):c.-536del
|
rs71451199
|
|
NM_003239.5(TGFB3):c.1001A>G (p.His334Arg)
|
rs1021920873
|
|
NM_003239.5(TGFB3):c.1006C>T (p.Pro336Ser)
|
|
|
NM_003239.5(TGFB3):c.103A>G (p.Ile35Val)
|
|
|
NM_003239.5(TGFB3):c.1040C>T (p.Pro347Leu)
|
rs755084678
|
|
NM_003239.5(TGFB3):c.1055G>A (p.Arg352His)
|
rs755894337
|
|
NM_003239.5(TGFB3):c.1063_1064del (p.Asp355fs)
|
rs2035148543
|
|
NM_003239.5(TGFB3):c.1064A>G (p.Asp355Gly)
|
rs2035148476
|
|
NM_003239.5(TGFB3):c.107AGA[2] (p.Lys38del)
|
rs1257515732
|
|
NM_003239.5(TGFB3):c.1080G>A (p.Thr360=)
|
rs1555360212
|
|
NM_003239.5(TGFB3):c.1081G>T (p.Val361Leu)
|
|
|
NM_003239.5(TGFB3):c.1124C>T (p.Ser375Leu)
|
rs780254258
|
|
NM_003239.5(TGFB3):c.1127C>T (p.Pro376Leu)
|
rs1446755738
|
|
NM_003239.5(TGFB3):c.1130G>A (p.Cys377Tyr)
|
rs1060502828
|
|
NM_003239.5(TGFB3):c.1138C>T (p.Pro380Ser)
|
rs1555360033
|
|
NM_003239.5(TGFB3):c.1151A>G (p.Glu384Gly)
|
rs777902992
|
|
NM_003239.5(TGFB3):c.1154C>T (p.Pro385Leu)
|
|
|
NM_003239.5(TGFB3):c.1175T>A (p.Val392Asp)
|
rs759168311
|
|
NM_003239.5(TGFB3):c.1177G>A (p.Gly393Arg)
|
|
|
NM_003239.5(TGFB3):c.1183A>C (p.Thr395Pro)
|
rs1566677868
|
|
NM_003239.5(TGFB3):c.1183A>G (p.Thr395Ala)
|
rs1566677868
|
|
NM_003239.5(TGFB3):c.1184C>A (p.Thr395Asn)
|
|
|
NM_003239.5(TGFB3):c.1186C>T (p.Pro396Ser)
|
rs899613458
|
|
NM_003239.5(TGFB3):c.1190A>G (p.Lys397Arg)
|
rs2035122885
|
|
NM_003239.5(TGFB3):c.1213GTG[1] (p.Val406del)
|
|
|
NM_003239.5(TGFB3):c.1219A>G (p.Lys407Glu)
|
rs1248127840
|
|
NM_003239.5(TGFB3):c.1221G>C (p.Lys407Asn)
|
|
|
NM_003239.5(TGFB3):c.1236C>G (p.Ser412Arg)
|
|
|
NM_003239.5(TGFB3):c.1237T>C (p.Ter413Arg)
|
|
|
NM_003239.5(TGFB3):c.128T>C (p.Ile43Thr)
|
rs765490133
|
|
NM_003239.5(TGFB3):c.133G>A (p.Gly45Arg)
|
|
|
NM_003239.5(TGFB3):c.139A>T (p.Ile47Phe)
|
rs2140254535
|
|
NM_003239.5(TGFB3):c.146G>C (p.Ser49Thr)
|
rs2140254503
|
|
NM_003239.5(TGFB3):c.154A>T (p.Arg52Trp)
|
rs1441479444
|
|
NM_003239.5(TGFB3):c.155G>A (p.Arg52Lys)
|
|
|
NM_003239.5(TGFB3):c.155G>C (p.Arg52Thr)
|
rs2035417379
|
|
NM_003239.5(TGFB3):c.161C>T (p.Thr54Ile)
|
rs2140254476
|
|
NM_003239.5(TGFB3):c.164G>C (p.Ser55Thr)
|
|
|
NM_003239.5(TGFB3):c.176C>T (p.Pro59Leu)
|
rs1594792447
|
|
NM_003239.5(TGFB3):c.179C>G (p.Thr60Arg)
|
|
|
NM_003239.5(TGFB3):c.185T>A (p.Met62Lys)
|
|
|
NM_003239.5(TGFB3):c.186G>A (p.Met62Ile)
|
rs2140254405
|
|
NM_003239.5(TGFB3):c.1A>G (p.Met1Val)
|
rs375153534
|
|
NM_003239.5(TGFB3):c.221A>G (p.Asn74Ser)
|
rs1279947435
|
|
NM_003239.5(TGFB3):c.229C>T (p.Arg77Trp)
|
rs150817760
|
|
NM_003239.5(TGFB3):c.230G>C (p.Arg77Pro)
|
rs1036545575
|
|
NM_003239.5(TGFB3):c.260G>T (p.Arg87Met)
|
rs1379970824
|
|
NM_003239.5(TGFB3):c.268G>A (p.Gly90Ser)
|
|
|
NM_003239.5(TGFB3):c.293C>G (p.Ser98Trp)
|
|
|
NM_003239.5(TGFB3):c.301T>C (p.Tyr101His)
|
rs1380630603
|
|
NM_003239.5(TGFB3):c.325G>A (p.Asp109Asn)
|
rs986180095
|
|
NM_003239.5(TGFB3):c.325G>T (p.Asp109Tyr)
|
|
|
NM_003239.5(TGFB3):c.335A>G (p.Gln112Arg)
|
rs2035412849
|
|
NM_003239.5(TGFB3):c.352+124C>G
|
|
|
NM_003239.5(TGFB3):c.352+2dup
|
rs1566686800
|
|
NM_003239.5(TGFB3):c.361G>C (p.Ala121Pro)
|
|
|
NM_003239.5(TGFB3):c.364G>C (p.Val122Leu)
|
|
|
NM_003239.5(TGFB3):c.368G>T (p.Cys123Phe)
|
|
|
NM_003239.5(TGFB3):c.398G>A (p.Arg133His)
|
rs761890018
|
|
NM_003239.5(TGFB3):c.406G>A (p.Val136Met)
|
|
|
NM_003239.5(TGFB3):c.409_417del (p.Ser137_Val139del)
|
rs2035294881
|
|
NM_003239.5(TGFB3):c.40C>A (p.Leu14Met)
|
|
|
NM_003239.5(TGFB3):c.416T>C (p.Val139Ala)
|
rs1422804503
|
|
NM_003239.5(TGFB3):c.41T>C (p.Leu14Pro)
|
rs2140254745
|
|
NM_003239.5(TGFB3):c.428G>A (p.Arg143Lys)
|
rs532403511
|
|
NM_003239.5(TGFB3):c.428G>T (p.Arg143Ile)
|
rs532403511
|
|
NM_003239.5(TGFB3):c.431C>A (p.Thr144Asn)
|
rs1594788076
|
|
NM_003239.5(TGFB3):c.43C>A (p.Leu15Met)
|
|
|
NM_003239.5(TGFB3):c.440T>C (p.Phe147Ser)
|
rs752691299
|
|
NM_003239.5(TGFB3):c.458T>A (p.Val153Asp)
|
|
|
NM_003239.5(TGFB3):c.462G>T (p.Leu154Phe)
|
|
|
NM_003239.5(TGFB3):c.464G>A (p.Arg155Gln)
|
rs925224125
|
|
NM_003239.5(TGFB3):c.469C>G (p.Pro157Ala)
|
rs2035293604
|
|
NM_003239.5(TGFB3):c.472A>G (p.Asn158Asp)
|
|
|
NM_003239.5(TGFB3):c.488G>T (p.Arg163Leu)
|
rs920721092
|
|
NM_003239.5(TGFB3):c.504C>G (p.Ile168Met)
|
rs148029842
|
|
NM_003239.5(TGFB3):c.505G>A (p.Glu169Lys)
|
rs1555360808
|
|
NM_003239.5(TGFB3):c.50T>G (p.Phe17Cys)
|
|
|
NM_003239.5(TGFB3):c.516+4A>T
|
rs1252391096
|
|
NM_003239.5(TGFB3):c.516+5C>T
|
rs2035292365
|
|
NM_003239.5(TGFB3):c.517-3T>C
|
rs2035287934
|
|
NM_003239.5(TGFB3):c.523C>T (p.Arg175Trp)
|
|
|
NM_003239.5(TGFB3):c.538A>C (p.Ile180Leu)
|
rs2035287327
|
|
NM_003239.5(TGFB3):c.551G>A (p.Arg184His)
|
rs996991722
|
|
NM_003239.5(TGFB3):c.557T>G (p.Ile186Ser)
|
rs763289805
|
|
NM_003239.5(TGFB3):c.590C>T (p.Ala197Val)
|
|
|
NM_003239.5(TGFB3):c.592G>A (p.Glu198Lys)
|
|
|
NM_003239.5(TGFB3):c.605T>C (p.Phe202Ser)
|
rs2035285904
|
|
NM_003239.5(TGFB3):c.611T>C (p.Val204Ala)
|
rs1555360774
|
|
NM_003239.5(TGFB3):c.622G>A (p.Val208Met)
|
rs2035285476
|
|
NM_003239.5(TGFB3):c.623T>C (p.Val208Ala)
|
|
|
NM_003239.5(TGFB3):c.625C>T (p.Arg209Cys)
|
rs1331488615
|
|
NM_003239.5(TGFB3):c.641G>A (p.Arg214Lys)
|
|
|
NM_003239.5(TGFB3):c.644G>C (p.Arg215Thr)
|
|
|
NM_003239.5(TGFB3):c.646G>A (p.Glu216Lys)
|
rs2140245156
|
|
NM_003239.5(TGFB3):c.647A>G (p.Glu216Gly)
|
|
|
NM_003239.5(TGFB3):c.653A>T (p.Asn218Ile)
|
rs2140240288
|
|
NM_003239.5(TGFB3):c.656T>C (p.Leu219Ser)
|
|
|
NM_003239.5(TGFB3):c.680G>A (p.Cys227Tyr)
|
rs1280447804
|
|
NM_003239.5(TGFB3):c.705T>G (p.Asn235Lys)
|
|
|
NM_003239.5(TGFB3):c.706G>A (p.Gly236Arg)
|
rs2035212440
|
|
NM_003239.5(TGFB3):c.713T>C (p.Ile238Thr)
|
rs2140240237
|
|
NM_003239.5(TGFB3):c.716T>C (p.Leu239Pro)
|
|
|
NM_003239.5(TGFB3):c.727C>A (p.His243Asn)
|
rs1045402283
|
|
NM_003239.5(TGFB3):c.742A>G (p.Ile248Val)
|
rs2035211931
|
|
NM_003239.5(TGFB3):c.742A>T (p.Ile248Phe)
|
|
|
NM_003239.5(TGFB3):c.754+5C>T
|
rs754211381
|
|
NM_003239.5(TGFB3):c.754+6_754+10del
|
rs1414628117
|
|
NM_003239.5(TGFB3):c.756C>T (p.Gly252=)
|
rs369435862
|
|
NM_003239.5(TGFB3):c.764A>G (p.Asn255Ser)
|
|
|
NM_003239.5(TGFB3):c.779G>A (p.Gly260Asp)
|
rs2140238325
|
|
NM_003239.5(TGFB3):c.781C>T (p.Arg261Cys)
|
rs560321456
|
|
NM_003239.5(TGFB3):c.782G>A (p.Arg261His)
|
rs547264290
|
|
NM_003239.5(TGFB3):c.797G>T (p.Arg266Leu)
|
rs142069844
|
|
NM_003239.5(TGFB3):c.830A>G (p.His277Arg)
|
rs1382239332
|
|
NM_003239.5(TGFB3):c.830_832del (p.His277del)
|
rs1555360376
|
|
NM_003239.5(TGFB3):c.835A>C (p.Ile279Leu)
|
|
|
NM_003239.5(TGFB3):c.838C>T (p.Leu280Phe)
|
|
|
NM_003239.5(TGFB3):c.83C>T (p.Thr28Ile)
|
rs2035419470
|
|
NM_003239.5(TGFB3):c.842T>C (p.Met281Thr)
|
rs1325349711
|
|
NM_003239.5(TGFB3):c.865G>A (p.Asp289Asn)
|
|
|
NM_003239.5(TGFB3):c.866A>G (p.Asp289Gly)
|
|
|
NM_003239.5(TGFB3):c.891G>T (p.Arg297Ser)
|
rs773168068
|
|
NM_003239.5(TGFB3):c.892A>C (p.Lys298Gln)
|
rs2035181062
|
|
NM_003239.5(TGFB3):c.901G>A (p.Ala301Thr)
|
rs2035180741
|
|
NM_003239.5(TGFB3):c.907G>C (p.Asp303His)
|
rs2035180646
|
|
NM_003239.5(TGFB3):c.914A>C (p.Asn305Thr)
|
rs369281541
|
|
NM_003239.5(TGFB3):c.919T>C (p.Cys307Arg)
|
rs2035180317
|
|
NM_003239.5(TGFB3):c.926G>A (p.Arg309His)
|
rs1057524768
|
|
NM_003239.5(TGFB3):c.927-10T>G
|
rs2140236310
|
|
NM_003239.5(TGFB3):c.927-6T>A
|
rs1555360247
|
|
NM_003239.5(TGFB3):c.929A>C (p.Asn310Thr)
|
rs1194831540
|
|
NM_003239.5(TGFB3):c.934G>A (p.Glu312Lys)
|
|
|
NM_003239.5(TGFB3):c.934GAG[1] (p.Glu313del)
|
rs760903557
|
|
NM_003239.5(TGFB3):c.946T>C (p.Cys316Arg)
|
rs2035150933
|
|
NM_003239.5(TGFB3):c.953G>A (p.Arg318His)
|
|
|
NM_003239.5(TGFB3):c.956C>T (p.Pro319Leu)
|
rs1595337739
|
|
NM_003239.5(TGFB3):c.974G>A (p.Arg325Gln)
|
rs771391164
|
|
NM_003239.5(TGFB3):c.985G>C (p.Gly329Arg)
|
|
|
NM_003239.5(TGFB3):c.985G>T (p.Gly329Cys)
|
rs2035150012
|
|
NM_003239.5(TGFB3):c.986G>C (p.Gly329Ala)
|
rs772698647
|
|
NM_003239.5(TGFB3):c.997G>A (p.Val333Ile)
|
|
|
NM_003242.5(TGFBR2):c.-344C>A
|
rs886058298
|
|
NM_003242.6(TGFBR2):c.*1207A>G
|
rs1699738762
|
|
NM_003242.6(TGFBR2):c.*1211A>T
|
rs886058319
|
|
NM_003242.6(TGFBR2):c.*1326G>A
|
rs886058320
|
|
NM_003242.6(TGFBR2):c.*1327C>G
|
rs1699740473
|
|
NM_003242.6(TGFBR2):c.*1715A>G
|
rs559265897
|
|
NM_003242.6(TGFBR2):c.*1842G>T
|
rs886058321
|
|
NM_003242.6(TGFBR2):c.*1859G>T
|
rs886058322
|
|
NM_003242.6(TGFBR2):c.*1860C>A
|
rs886058323
|
|
NM_003242.6(TGFBR2):c.*1887G>T
|
rs886058324
|
|
NM_003242.6(TGFBR2):c.*1966A>G
|
rs1699748594
|
|
NM_003242.6(TGFBR2):c.*226C>A
|
rs886058307
|
|
NM_003242.6(TGFBR2):c.*2332A>C
|
rs886058326
|
|
NM_003242.6(TGFBR2):c.*2335T>A
|
rs886058327
|
|
NM_003242.6(TGFBR2):c.*2437T>A
|
rs886058330
|
|
NM_003242.6(TGFBR2):c.*312AT[11]
|
rs4016180
|
|
NM_003242.6(TGFBR2):c.*330_*331del
|
rs561991238
|
|
NM_003242.6(TGFBR2):c.*33A>G
|
rs886058306
|
|
NM_003242.6(TGFBR2):c.*3C>A
|
|
|
NM_003242.6(TGFBR2):c.*598G>T
|
rs886058311
|
|
NM_003242.6(TGFBR2):c.*704A>G
|
rs886058312
|
|
NM_003242.6(TGFBR2):c.*713G>T
|
rs886058313
|
|
NM_003242.6(TGFBR2):c.*793G>T
|
rs886058314
|
|
NM_003242.6(TGFBR2):c.*799A>G
|
rs886058315
|
|
NM_003242.6(TGFBR2):c.*859G>A
|
rs548242538
|
|
NM_003242.6(TGFBR2):c.*997T>A
|
rs886058317
|
|
NM_003242.6(TGFBR2):c.-122T>G
|
rs1040386724
|
|
NM_003242.6(TGFBR2):c.-18C>A
|
rs753369354
|
|
NM_003242.6(TGFBR2):c.-195G>A
|
rs925186023
|
|
NM_003242.6(TGFBR2):c.-1C>T
|
|
|
NM_003242.6(TGFBR2):c.-228C>A
|
rs886058300
|
|
NM_003242.6(TGFBR2):c.-249T>G
|
rs886058299
|
|
NM_003242.6(TGFBR2):c.-26G>A
|
rs752752584
|
|
NM_003242.6(TGFBR2):c.-9G>A
|
|
|
NM_003242.6(TGFBR2):c.1002G>T (p.Gln334His)
|
rs1699354101
|
|
NM_003242.6(TGFBR2):c.1007A>T (p.Tyr336Phe)
|
rs1699354286
|
|
NM_003242.6(TGFBR2):c.1016G>C (p.Arg339Pro)
|
rs727503473
|
|
NM_003242.6(TGFBR2):c.1021G>C (p.Val341Leu)
|
|
|
NM_003242.6(TGFBR2):c.103G>A (p.Asp35Asn)
|
rs984098699
|
|
NM_003242.6(TGFBR2):c.103G>C (p.Asp35His)
|
rs984098699
|
|
NM_003242.6(TGFBR2):c.1047G>C (p.Lys349Asn)
|
rs2125435790
|
|
NM_003242.6(TGFBR2):c.1063G>T (p.Ala355Ser)
|
|
|
NM_003242.6(TGFBR2):c.1066C>T (p.Arg356Trp)
|
rs199660234
|
|
NM_003242.6(TGFBR2):c.1085A>G (p.His362Arg)
|
rs863223842
|
|
NM_003242.6(TGFBR2):c.1087A>G (p.Ser363Gly)
|
rs2125436087
|
|
NM_003242.6(TGFBR2):c.1092T>A (p.Asp364Glu)
|
|
|
NM_003242.6(TGFBR2):c.1096A>G (p.Thr366Ala)
|
rs777332888
|
|
NM_003242.6(TGFBR2):c.1097C>T (p.Thr366Ile)
|
|
|
NM_003242.6(TGFBR2):c.1115A>G (p.Lys372Arg)
|
|
|
NM_003242.6(TGFBR2):c.1120C>T (p.Pro374Ser)
|
rs863223843
|
|
NM_003242.6(TGFBR2):c.1121C>T (p.Pro374Leu)
|
rs1057524399
|
|
NM_003242.6(TGFBR2):c.1126G>A (p.Val376Met)
|
rs755967723
|
|
NM_003242.6(TGFBR2):c.1126G>T (p.Val376Leu)
|
|
|
NM_003242.6(TGFBR2):c.1159G>A (p.Val387Met)
|
rs35766612
|
|
NM_003242.6(TGFBR2):c.1159G>T (p.Val387Leu)
|
rs35766612
|
|
NM_003242.6(TGFBR2):c.1168G>A (p.Asp390Asn)
|
rs2125436704
|
|
NM_003242.6(TGFBR2):c.1177T>G (p.Cys393Gly)
|
rs2125436754
|
|
NM_003242.6(TGFBR2):c.1194T>G (p.Phe398Leu)
|
|
|
NM_003242.6(TGFBR2):c.1236C>A (p.Asp412Glu)
|
rs1699361148
|
|
NM_003242.6(TGFBR2):c.1238T>A (p.Leu413Gln)
|
rs1559467328
|
|
NM_003242.6(TGFBR2):c.1243A>G (p.Asn415Asp)
|
|
|
NM_003242.6(TGFBR2):c.1247G>C (p.Ser416Thr)
|
|
|
NM_003242.6(TGFBR2):c.124A>G (p.Asn42Asp)
|
|
|
NM_003242.6(TGFBR2):c.1254+8A>G
|
rs200630803
|
|
NM_003242.6(TGFBR2):c.1265C>T (p.Ala422Val)
|
|
|
NM_003242.6(TGFBR2):c.127G>A (p.Gly43Ser)
|
|
|
NM_003242.6(TGFBR2):c.1357G>T (p.Val453Leu)
|
|
|
NM_003242.6(TGFBR2):c.1370T>C (p.Met457Thr)
|
|
|
NM_003242.6(TGFBR2):c.1373C>T (p.Thr458Ile)
|
rs1699394098
|
|
NM_003242.6(TGFBR2):c.1386T>G (p.Asn462Lys)
|
rs2125439408
|
|
NM_003242.6(TGFBR2):c.1397-12C>A
|
|
|
NM_003242.6(TGFBR2):c.1403A>T (p.Lys468Ile)
|
|
|
NM_003242.6(TGFBR2):c.1427C>T (p.Ser476Phe)
|
|
|
NM_003242.6(TGFBR2):c.1436G>A (p.Arg479Gln)
|
rs1553631704
|
|
NM_003242.6(TGFBR2):c.1460T>C (p.Met487Thr)
|
|
|
NM_003242.6(TGFBR2):c.1469A>G (p.Asn490Ser)
|
|
|
NM_003242.6(TGFBR2):c.1486G>A (p.Gly496Arg)
|
|
|
NM_003242.6(TGFBR2):c.148C>G (p.Leu50Val)
|
rs1698701049
|
|
NM_003242.6(TGFBR2):c.1501C>T (p.Pro501Ser)
|
|
|
NM_003242.6(TGFBR2):c.1507T>C (p.Phe503Leu)
|
rs772201128
|
|
NM_003242.6(TGFBR2):c.1524+11_1524+14del
|
|
|
NM_003242.6(TGFBR2):c.15_25dup (p.Leu9fs)
|
rs1559443652
|
|
NM_003242.6(TGFBR2):c.1633G>A (p.Asp545Asn)
|
|
|
NM_003242.6(TGFBR2):c.1635C>G (p.Asp545Glu)
|
rs1178327690
|
|
NM_003242.6(TGFBR2):c.1663G>A (p.Glu555Lys)
|
rs1325892805
|
|
NM_003242.6(TGFBR2):c.1680C>G (p.Asp560Glu)
|
rs376815143
|
|
NM_003242.6(TGFBR2):c.1682G>C (p.Gly561Ala)
|
rs1559473531
|
|
NM_003242.6(TGFBR2):c.168G>A (p.Val56=)
|
|
|
NM_003242.6(TGFBR2):c.1696A>G (p.Thr566Ala)
|
|
|
NM_003242.6(TGFBR2):c.1699A>G (p.Lys567Glu)
|
|
|
NM_003242.6(TGFBR2):c.190C>A (p.Gln64Lys)
|
|
|
NM_003242.6(TGFBR2):c.1A>G (p.Met1Val)
|
rs933114782
|
|
NM_003242.6(TGFBR2):c.202A>G (p.Met68Val)
|
|
|
NM_003242.6(TGFBR2):c.215G>A (p.Ser72Asn)
|
rs764941621
|
|
NM_003242.6(TGFBR2):c.221C>A (p.Thr74Asn)
|
|
|
NM_003242.6(TGFBR2):c.226A>C (p.Ile76Leu)
|
|
|
NM_003242.6(TGFBR2):c.227T>C (p.Ile76Thr)
|
|
|
NM_003242.6(TGFBR2):c.235A>G (p.Lys79Glu)
|
|
|
NM_003242.6(TGFBR2):c.256G>T (p.Ala86Ser)
|
|
|
NM_003242.6(TGFBR2):c.281A>C (p.Asn94Thr)
|
|
|
NM_003242.6(TGFBR2):c.296C>T (p.Thr99Ile)
|
rs863223837
|
|
NM_003242.6(TGFBR2):c.302G>A (p.Cys101Tyr)
|
|
|
NM_003242.6(TGFBR2):c.310C>A (p.Pro104Thr)
|
|
|
NM_003242.6(TGFBR2):c.310C>T (p.Pro104Ser)
|
rs193922665
|
|
NM_003242.6(TGFBR2):c.315G>C (p.Lys105Asn)
|
|
|
NM_003242.6(TGFBR2):c.344A>T (p.Asp115Val)
|
|
|
NM_003242.6(TGFBR2):c.358A>G (p.Lys120Glu)
|
rs2125410292
|
|
NM_003242.6(TGFBR2):c.35_55dup (p.Thr18_Arg19insLeuHisIleValLeuTrpThr)
|
|
|
NM_003242.6(TGFBR2):c.383dup (p.Pro129fs)
|
rs79375991
|
|
NM_003242.6(TGFBR2):c.385C>G (p.Pro129Ala)
|
rs770216059
|
|
NM_003242.6(TGFBR2):c.395C>T (p.Thr132Ile)
|
rs1402755105
|
|
NM_003242.6(TGFBR2):c.413G>A (p.Cys138Tyr)
|
rs1559458957
|
|
NM_003242.6(TGFBR2):c.427T>C (p.Cys143Arg)
|
|
|
NM_003242.6(TGFBR2):c.431A>G (p.Asn144Ser)
|
|
|
NM_003242.6(TGFBR2):c.432T>A (p.Asn144Lys)
|
|
|
NM_003242.6(TGFBR2):c.443T>C (p.Ile148Thr)
|
|
|
NM_003242.6(TGFBR2):c.454+3G>A
|
rs2125410813
|
|
NM_003242.6(TGFBR2):c.454G>A (p.Glu152Lys)
|
rs778675253
|
|
NM_003242.6(TGFBR2):c.468C>G (p.Ser156Arg)
|
|
|
NM_003242.6(TGFBR2):c.472C>T (p.Pro158Ser)
|
rs886058303
|
|
NM_003242.6(TGFBR2):c.4G>A (p.Gly2Ser)
|
|
|
NM_003242.6(TGFBR2):c.530G>A (p.Gly177Glu)
|
|
|
NM_003242.6(TGFBR2):c.538A>G (p.Ile180Val)
|
rs1699340728
|
|
NM_003242.6(TGFBR2):c.544G>A (p.Val182Ile)
|
|
|
NM_003242.6(TGFBR2):c.568C>G (p.Arg190Gly)
|
rs758703490
|
|
NM_003242.6(TGFBR2):c.56G>A (p.Arg19His)
|
rs763085648
|
|
NM_003242.6(TGFBR2):c.56G>T (p.Arg19Leu)
|
rs763085648
|
|
NM_003242.6(TGFBR2):c.58A>T (p.Ile20Phe)
|
|
|
NM_003242.6(TGFBR2):c.594T>A (p.Ser198Arg)
|
|
|
NM_003242.6(TGFBR2):c.619C>G (p.Arg207Gly)
|
|
|
NM_003242.6(TGFBR2):c.61G>T (p.Ala21Ser)
|
|
|
NM_003242.6(TGFBR2):c.625C>A (p.Leu209Ile)
|
|
|
NM_003242.6(TGFBR2):c.625C>T (p.Leu209Phe)
|
rs1288771489
|
|
NM_003242.6(TGFBR2):c.628A>G (p.Met210Val)
|
|
|
NM_003242.6(TGFBR2):c.638G>A (p.Ser213Asn)
|
|
|
NM_003242.6(TGFBR2):c.645C>G (p.His215Gln)
|
rs758827786
|
|
NM_003242.6(TGFBR2):c.671G>T (p.Arg224Leu)
|
|
|
NM_003242.6(TGFBR2):c.735G>C (p.Glu245Asp)
|
|
|
NM_003242.6(TGFBR2):c.736C>T (p.Leu246=)
|
rs886058305
|
|
NM_003242.6(TGFBR2):c.760C>T (p.Arg254Cys)
|
rs863223856
|
|
NM_003242.6(TGFBR2):c.773T>A (p.Val258Asp)
|
rs869025536
|
|
NM_003242.6(TGFBR2):c.779A>G (p.Lys260Arg)
|
|
|
NM_003242.6(TGFBR2):c.77C>T (p.Pro26Leu)
|
|
|
NM_003242.6(TGFBR2):c.797A>G (p.Asn266Ser)
|
rs753184709
|
|
NM_003242.6(TGFBR2):c.7C>T (p.Arg3Trp)
|
|
|
NM_003242.6(TGFBR2):c.81C>G (p.His27Gln)
|
|
|
NM_003242.6(TGFBR2):c.835T>C (p.Phe279Leu)
|
rs746824357
|
|
NM_003242.6(TGFBR2):c.877A>T (p.Ile293Phe)
|
|
|
NM_003242.6(TGFBR2):c.8G>A (p.Arg3Gln)
|
rs780267559
|
|
NM_003242.6(TGFBR2):c.8G>C (p.Arg3Pro)
|
|
|
NM_003242.6(TGFBR2):c.908A>G (p.Asn303Ser)
|
rs2125435026
|
|
NM_003242.6(TGFBR2):c.913C>T (p.Leu305Phe)
|
rs1553630171
|
|
NM_003242.6(TGFBR2):c.928G>A (p.Ala310Thr)
|
rs1553630181
|
|
NM_003242.6(TGFBR2):c.928G>T (p.Ala310Ser)
|
rs1553630181
|
|
NM_003242.6(TGFBR2):c.938G>T (p.Arg313Leu)
|
rs200361387
|
|
NM_003242.6(TGFBR2):c.967C>G (p.Leu323Val)
|
rs781018006
|
|
NM_003242.6(TGFBR2):c.972C>G (p.Ile324Met)
|
|
|
NM_003242.6(TGFBR2):c.98A>G (p.Asn33Ser)
|
rs2125404654
|
|
NM_003334.4(UBA1):c.355C>T (p.Arg119Trp)
|
|
|
NM_003334.4(UBA1):c.804A>T (p.Lys268Asn)
|
rs781996319
|
|
NM_003480.4(MFAP5):c.81T>G (p.Asn27Lys)
|
rs1555140533
|
|
NM_003483.6(HMGA2):c.283-2A>G
|
rs1592471112
|
|
NM_003664.5(AP3B1):c.1230+7G>A
|
rs1298715924
|
|
NM_003664.5(AP3B1):c.1688A>C (p.Lys563Thr)
|
rs2112301217
|
|
NM_003664.5(AP3B1):c.1984C>G (p.Pro662Ala)
|
rs749489841
|
|
NM_003664.5(AP3B1):c.2112C>T (p.Gly704=)
|
rs35976098
|
|
NM_003664.5(AP3B1):c.853G>A (p.Asp285Asn)
|
rs2112414243
|
|
NM_003745.2(SOCS1):c.108_137del (p.Arg38_Ala47del)
|
|
|
NM_003745.2(SOCS1):c.281G>T (p.Arg94Leu)
|
|
|
NM_003745.2(SOCS1):c.560G>A (p.Gly187Asp)
|
|
|
NM_003764.4(STX11):c.*6C>T
|
rs777558264
|
|
NM_003764.4(STX11):c.-5G>A
|
rs751130386
|
|
NM_003764.4(STX11):c.221C>T (p.Thr74Met)
|
rs540150447
|
|
NM_003764.4(STX11):c.24_26del (p.Leu9del)
|
rs760492745
|
|
NM_003764.4(STX11):c.433G>T (p.Asp145Tyr)
|
rs527278192
|
|
NM_003764.4(STX11):c.99C>G (p.Ile33Met)
|
rs756068979
|
|
NM_003977.4(AIP):c.-12C>G
|
rs551077555
|
|
NM_003977.4(AIP):c.-2G>C
|
rs377710724
|
|
NM_003977.4(AIP):c.-85C>T
|
rs1565180279
|
|
NM_003977.4(AIP):c.102C>G (p.Ala34=)
|
rs886048584
|
|
NM_003977.4(AIP):c.136G>A (p.Glu46Lys)
|
rs772580337
|
|
NM_003977.4(AIP):c.151G>A (p.Asp51Asn)
|
rs1591042638
|
|
NM_003977.4(AIP):c.164C>T (p.Ala55Val)
|
rs1865805899
|
|
NM_003977.4(AIP):c.16G>A (p.Ala6Thr)
|
|
|
NM_003977.4(AIP):c.249G>A (p.Gly83=)
|
rs104895072
|
|
NM_003977.4(AIP):c.261G>C (p.Gln87His)
|
rs767982777
|
|
NM_003977.4(AIP):c.279G>A (p.Lys93=)
|
|
|
NM_003977.4(AIP):c.379A>G (p.Met127Val)
|
rs1591044815
|
|
NM_003977.4(AIP):c.474G>T (p.Glu158Asp)
|
rs1245383191
|
|
NM_003977.4(AIP):c.485C>T (p.Thr162Met)
|
rs764344774
|
|
NM_003977.4(AIP):c.523A>C (p.Lys175Gln)
|
|
|
NM_003977.4(AIP):c.619G>C (p.Ala207Pro)
|
|
|
NM_003977.4(AIP):c.649C>G (p.Gln217Glu)
|
|
|
NM_003977.4(AIP):c.660C>T (p.Ser220=)
|
rs776495655
|
|
NM_003977.4(AIP):c.662C>T (p.Pro221Leu)
|
rs1426023503
|
|
NM_003977.4(AIP):c.787+10G>A
|
rs776322323
|
|
NM_003977.4(AIP):c.807C>G (p.Phe269Leu)
|
|
|
NM_003977.4(AIP):c.879G>T (p.Glu293Asp)
|
|
|
NM_003977.4(AIP):c.887C>A (p.Pro296Gln)
|
|
|
NM_003977.4(AIP):c.949G>T (p.Asp317Tyr)
|
rs145025838
|
|
NM_003977.4(AIP):c.950A>G (p.Asp317Gly)
|
|
|
NM_003978.3(PSTPIP1):c.517_518delAG
|
rs878855322
|
|
NM_003978.5(PSTPIP1):c.*123T>C
|
rs886051494
|
|
NM_003978.5(PSTPIP1):c.*98C>G
|
rs1264249832
|
|
NM_003978.5(PSTPIP1):c.-280GCTGG[3]
|
rs886051491
|
|
NM_003978.5(PSTPIP1):c.-367G>A
|
rs886051490
|
|
NM_003978.5(PSTPIP1):c.1019G>A (p.Arg340Gln)
|
rs768664787
|
|
NM_003978.5(PSTPIP1):c.1024G>A (p.Glu342Lys)
|
rs774437204
|
|
NM_003978.5(PSTPIP1):c.1040C>A (p.Ala347Asp)
|
rs374682350
|
|
NM_003978.5(PSTPIP1):c.1055A>C (p.Glu352Ala)
|
|
|
NM_003978.5(PSTPIP1):c.1060C>T (p.Gln354Ter)
|
|
|
NM_003978.5(PSTPIP1):c.1064G>T (p.Gly355Val)
|
rs2152692046
|
|
NM_003978.5(PSTPIP1):c.1070C>T (p.Pro357Leu)
|
rs755840747
|
|
NM_003978.5(PSTPIP1):c.1079C>T (p.Pro360Leu)
|
rs768897476
|
|
NM_003978.5(PSTPIP1):c.1104C>A (p.Tyr368Ter)
|
rs368373680
|
|
NM_003978.5(PSTPIP1):c.1110T>A (p.Tyr370Ter)
|
rs762667938
|
|
NM_003978.5(PSTPIP1):c.1119+5G>A
|
rs756068066
|
|
NM_003978.5(PSTPIP1):c.1119+5G>C
|
rs756068066
|
|
NM_003978.5(PSTPIP1):c.111A>G (p.Lys37=)
|
rs2152678775
|
|
NM_003978.5(PSTPIP1):c.1120-13A>G
|
|
|
NM_003978.5(PSTPIP1):c.1124C>T (p.Pro375Leu)
|
rs1338203882
|
|
NM_003978.5(PSTPIP1):c.1129G>A (p.Glu377Lys)
|
|
|
NM_003978.5(PSTPIP1):c.1144G>C (p.Ala382Pro)
|
rs145344175
|
|
NM_003978.5(PSTPIP1):c.1144G>T (p.Ala382Ser)
|
|
|
NM_003978.5(PSTPIP1):c.1145C>A (p.Ala382Glu)
|
rs202205180
|
|
NM_003978.5(PSTPIP1):c.1150G>A (p.Asp384Asn)
|
|
|
NM_003978.5(PSTPIP1):c.1172_1175dup (p.Glu393fs)
|
|
|
NM_003978.5(PSTPIP1):c.1177G>A (p.Glu393Lys)
|
rs781437901
|
|
NM_003978.5(PSTPIP1):c.1184G>A (p.Gly395Asp)
|
rs2076598654
|
|
NM_003978.5(PSTPIP1):c.1192A>G (p.Thr398Ala)
|
|
|
NM_003978.5(PSTPIP1):c.1196T>C (p.Val399Ala)
|
rs1193580867
|
|
NM_003978.5(PSTPIP1):c.1201A>G (p.Arg401Gly)
|
rs2076599290
|
|
NM_003978.5(PSTPIP1):c.1207G>A (p.Gly403Arg)
|
rs369113632
|
|
NM_003978.5(PSTPIP1):c.1207G>C (p.Gly403Arg)
|
rs369113632
|
|
NM_003978.5(PSTPIP1):c.1220T>C (p.Phe407Ser)
|
rs2152692942
|
|
NM_003978.5(PSTPIP1):c.1221C>A (p.Phe407Leu)
|
rs200363654
|
|
NM_003978.5(PSTPIP1):c.1222dup (p.Val408fs)
|
rs1392091785
|
|
NM_003978.5(PSTPIP1):c.1223T>A (p.Val408Asp)
|
|
|
NM_003978.5(PSTPIP1):c.1225C>T (p.Pro409Ser)
|
|
|
NM_003978.5(PSTPIP1):c.1226C>T (p.Pro409Leu)
|
|
|
NM_003978.5(PSTPIP1):c.1228G>A (p.Gly410Ser)
|
rs2152692953
|
|
NM_003978.5(PSTPIP1):c.1237C>G (p.Leu413Val)
|
|
|
NM_003978.5(PSTPIP1):c.1241A>G (p.Glu414Gly)
|
|
|
NM_003978.5(PSTPIP1):c.1241A>T (p.Glu414Val)
|
rs2152692961
|
|
NM_003978.5(PSTPIP1):c.1242G>C (p.Glu414Asp)
|
rs1158206044
|
|
NM_003978.5(PSTPIP1):c.1243A>C (p.Lys415Gln)
|
rs2076601376
|
|
NM_003978.5(PSTPIP1):c.127C>G (p.Leu43Val)
|
rs2152678787
|
|
NM_003978.5(PSTPIP1):c.137+6C>T
|
|
|
NM_003978.5(PSTPIP1):c.172G>T (p.Val58Leu)
|
|
|
NM_003978.5(PSTPIP1):c.177del (p.Ile60fs)
|
rs2152679010
|
|
NM_003978.5(PSTPIP1):c.17A>G (p.Gln6Arg)
|
|
|
NM_003978.5(PSTPIP1):c.17A>T (p.Gln6Leu)
|
|
|
NM_003978.5(PSTPIP1):c.181G>A (p.Ala61Thr)
|
|
|
NM_003978.5(PSTPIP1):c.181G>T (p.Ala61Ser)
|
rs568503340
|
|
NM_003978.5(PSTPIP1):c.185G>A (p.Arg62Gln)
|
rs754304151
|
|
NM_003978.5(PSTPIP1):c.212+1G>A
|
rs2152679042
|
|
NM_003978.5(PSTPIP1):c.213-8T>G
|
|
|
NM_003978.5(PSTPIP1):c.214T>A (p.Ser72Thr)
|
|
|
NM_003978.5(PSTPIP1):c.224C>T (p.Ala75Val)
|
rs2152683730
|
|
NM_003978.5(PSTPIP1):c.245A>G (p.Gln82Arg)
|
|
|
NM_003978.5(PSTPIP1):c.247C>A (p.Gln83Lys)
|
rs377719165
|
|
NM_003978.5(PSTPIP1):c.247C>T (p.Gln83Ter)
|
rs377719165
|
|
NM_003978.5(PSTPIP1):c.255G>C (p.Glu85Asp)
|
rs1014025734
|
|
NM_003978.5(PSTPIP1):c.256A>G (p.Asn86Asp)
|
rs2152683891
|
|
NM_003978.5(PSTPIP1):c.25G>A (p.Asp9Asn)
|
rs2075560223
|
|
NM_003978.5(PSTPIP1):c.296G>A (p.Arg99His)
|
|
|
NM_003978.5(PSTPIP1):c.304C>G (p.Leu102Val)
|
rs1401702747
|
|
NM_003978.5(PSTPIP1):c.305T>C (p.Leu102Pro)
|
|
|
NM_003978.5(PSTPIP1):c.32T>C (p.Phe11Ser)
|
|
|
NM_003978.5(PSTPIP1):c.344A>C (p.Gln115Pro)
|
rs2076261726
|
|
NM_003978.5(PSTPIP1):c.351G>T (p.Lys117Asn)
|
|
|
NM_003978.5(PSTPIP1):c.354+20_354+21delinsTC
|
|
|
NM_003978.5(PSTPIP1):c.355-12T>C
|
|
|
NM_003978.5(PSTPIP1):c.355-2A>G
|
|
|
NM_003978.5(PSTPIP1):c.355-4G>A
|
rs1596111331
|
|
NM_003978.5(PSTPIP1):c.35G>C (p.Trp12Ser)
|
|
|
NM_003978.5(PSTPIP1):c.374G>A (p.Arg125Gln)
|
|
|
NM_003978.5(PSTPIP1):c.376G>A (p.Val126Ile)
|
|
|
NM_003978.5(PSTPIP1):c.376G>T (p.Val126Phe)
|
rs1468002596
|
|
NM_003978.5(PSTPIP1):c.38_39delinsTT (p.Cys13Phe)
|
rs2152678700
|
|
NM_003978.5(PSTPIP1):c.395C>G (p.Ser132Trp)
|
|
|
NM_003978.5(PSTPIP1):c.39C>G (p.Cys13Trp)
|
rs2076087868
|
|
NM_003978.5(PSTPIP1):c.403AAG[1] (p.Lys136del)
|
|
|
NM_003978.5(PSTPIP1):c.417+6C>G
|
rs2076320514
|
|
NM_003978.5(PSTPIP1):c.418-4_418-3del
|
rs749862420
|
|
NM_003978.5(PSTPIP1):c.41G>A (p.Arg14Lys)
|
|
|
NM_003978.5(PSTPIP1):c.425A>C (p.Lys142Thr)
|
rs1181890332
|
|
NM_003978.5(PSTPIP1):c.429A>G (p.Thr143=)
|
rs1141040
|
|
NM_003978.5(PSTPIP1):c.430T>C (p.Tyr144His)
|
|
|
NM_003978.5(PSTPIP1):c.430T>G (p.Tyr144Asp)
|
rs377240256
|
|
NM_003978.5(PSTPIP1):c.431A>T (p.Tyr144Phe)
|
rs2076340597
|
|
NM_003978.5(PSTPIP1):c.432C>G (p.Tyr144Ter)
|
rs370003508
|
|
NM_003978.5(PSTPIP1):c.433G>A (p.Glu145Lys)
|
|
|
NM_003978.5(PSTPIP1):c.438G>A (p.Gln146=)
|
rs1141041
|
|
NM_003978.5(PSTPIP1):c.443G>T (p.Cys148Phe)
|
|
|
NM_003978.5(PSTPIP1):c.445del (p.Arg149fs)
|
rs1441606629
|
|
NM_003978.5(PSTPIP1):c.446G>A (p.Arg149Gln)
|
rs1141042
|
|
NM_003978.5(PSTPIP1):c.451G>A (p.Ala151Thr)
|
rs1141043
|
|
NM_003978.5(PSTPIP1):c.452C>G (p.Ala151Gly)
|
rs1160921792
|
|
NM_003978.5(PSTPIP1):c.457G>A (p.Asp153Asn)
|
|
|
NM_003978.5(PSTPIP1):c.460G>T (p.Ala154Ser)
|
rs781516273
|
|
NM_003978.5(PSTPIP1):c.469G>A (p.Ala157Thr)
|
rs2076342688
|
|
NM_003978.5(PSTPIP1):c.469G>T (p.Ala157Ser)
|
rs2076342688
|
|
NM_003978.5(PSTPIP1):c.46T>C (p.Phe16Leu)
|
rs2152678710
|
|
NM_003978.5(PSTPIP1):c.470C>A (p.Ala157Asp)
|
rs2076342762
|
|
NM_003978.5(PSTPIP1):c.481A>C (p.Ile161Leu)
|
|
|
NM_003978.5(PSTPIP1):c.484A>T (p.Ser162Cys)
|
|
|
NM_003978.5(PSTPIP1):c.492C>G (p.Asn164Lys)
|
|
|
NM_003978.5(PSTPIP1):c.50C>T (p.Thr17Ile)
|
rs1235260030
|
|
NM_003978.5(PSTPIP1):c.532A>G (p.Arg178Gly)
|
|
|
NM_003978.5(PSTPIP1):c.535C>T (p.Gln179Ter)
|
rs867813339
|
|
NM_003978.5(PSTPIP1):c.539G>A (p.Cys180Tyr)
|
rs1337020537
|
|
NM_003978.5(PSTPIP1):c.563-9C>A
|
|
|
NM_003978.5(PSTPIP1):c.572A>G (p.Tyr191Cys)
|
|
|
NM_003978.5(PSTPIP1):c.579G>T (p.Gln193His)
|
rs2076388885
|
|
NM_003978.5(PSTPIP1):c.587C>A (p.Ala196Glu)
|
|
|
NM_003978.5(PSTPIP1):c.58A>C (p.Thr20Pro)
|
|
|
NM_003978.5(PSTPIP1):c.595G>A (p.Glu199Lys)
|
rs1430542503
|
|
NM_003978.5(PSTPIP1):c.59C>T (p.Thr20Met)
|
rs553718554
|
|
NM_003978.5(PSTPIP1):c.602T>C (p.Val201Ala)
|
|
|
NM_003978.5(PSTPIP1):c.607G>A (p.Ala203Thr)
|
rs768226088
|
|
NM_003978.5(PSTPIP1):c.613T>C (p.Trp205Arg)
|
|
|
NM_003978.5(PSTPIP1):c.629G>C (p.Arg210Pro)
|
rs776576205
|
|
NM_003978.5(PSTPIP1):c.62_63delinsAA (p.Gly21Glu)
|
rs2152678736
|
|
NM_003978.5(PSTPIP1):c.639T>A (p.Cys213Ter)
|
rs2076390490
|
|
NM_003978.5(PSTPIP1):c.642G>C (p.Glu214Asp)
|
rs2076390591
|
|
NM_003978.5(PSTPIP1):c.667C>T (p.Arg223Trp)
|
rs574957138
|
|
NM_003978.5(PSTPIP1):c.669del (p.Arg223_Leu224insTer)
|
rs1596123288
|
|
NM_003978.5(PSTPIP1):c.676A>G (p.Ile226Val)
|
rs2076408341
|
|
NM_003978.5(PSTPIP1):c.679C>T (p.Leu227Phe)
|
|
|
NM_003978.5(PSTPIP1):c.680T>C (p.Leu227Pro)
|
|
|
NM_003978.5(PSTPIP1):c.683G>T (p.Arg228Leu)
|
rs1386762740
|
|
NM_003978.5(PSTPIP1):c.684C>T (p.Arg228=)
|
rs2076408513
|
|
NM_003978.5(PSTPIP1):c.700C>T (p.His234Tyr)
|
|
|
NM_003978.5(PSTPIP1):c.708C>A (p.Asn236Lys)
|
rs768887430
|
|
NM_003978.5(PSTPIP1):c.709C>A (p.Gln237Lys)
|
|
|
NM_003978.5(PSTPIP1):c.718A>C (p.Met240Leu)
|
rs1350794252
|
|
NM_003978.5(PSTPIP1):c.741+12G>C
|
|
|
NM_003978.5(PSTPIP1):c.742-3C>T
|
|
|
NM_003978.5(PSTPIP1):c.74T>C (p.Leu25Pro)
|
|
|
NM_003978.5(PSTPIP1):c.755T>C (p.Val252Ala)
|
rs970904080
|
|
NM_003978.5(PSTPIP1):c.757C>T (p.Arg253Trp)
|
rs375155007
|
|
NM_003978.5(PSTPIP1):c.768G>T (p.Leu256=)
|
rs2152689079
|
|
NM_003978.5(PSTPIP1):c.770A>G (p.Glu257Gly)
|
rs2152689087
|
|
NM_003978.5(PSTPIP1):c.778A>G (p.Ser260Gly)
|
|
|
NM_003978.5(PSTPIP1):c.787G>A (p.Ala263Thr)
|
|
|
NM_003978.5(PSTPIP1):c.790G>A (p.Asp264Asn)
|
|
|
NM_003978.5(PSTPIP1):c.793A>G (p.Ile265Val)
|
rs1266616711
|
|
NM_003978.5(PSTPIP1):c.797A>C (p.Asp266Ala)
|
|
|
NM_003978.5(PSTPIP1):c.806T>A (p.Ile269Asn)
|
rs770215969
|
|
NM_003978.5(PSTPIP1):c.815A>G (p.Lys272Arg)
|
rs767248102
|
|
NM_003978.5(PSTPIP1):c.821C>T (p.Thr274Met)
|
rs2076440871
|
|
NM_003978.5(PSTPIP1):c.825C>T (p.Gly275=)
|
rs1596127270
|
|
NM_003978.5(PSTPIP1):c.837C>A (p.Pro279=)
|
rs149195362
|
|
NM_003978.5(PSTPIP1):c.837C>G (p.Pro279=)
|
rs149195362
|
|
NM_003978.5(PSTPIP1):c.838+6G>T
|
|
|
NM_003978.5(PSTPIP1):c.838G>T (p.Ala280Ser)
|
|
|
NM_003978.5(PSTPIP1):c.839-1G>T
|
rs2076455169
|
|
NM_003978.5(PSTPIP1):c.839-2A>G
|
|
|
NM_003978.5(PSTPIP1):c.842C>T (p.Pro281Leu)
|
|
|
NM_003978.5(PSTPIP1):c.843G>A (p.Pro281=)
|
|
|
NM_003978.5(PSTPIP1):c.854_879del (p.Gln285fs)
|
rs2152689594
|
|
NM_003978.5(PSTPIP1):c.864C>A (p.Tyr288Ter)
|
|
|
NM_003978.5(PSTPIP1):c.865G>A (p.Asp289Asn)
|
|
|
NM_003978.5(PSTPIP1):c.868C>T (p.Arg290Trp)
|
|
|
NM_003978.5(PSTPIP1):c.869G>A (p.Arg290Gln)
|
rs761580488
|
|
NM_003978.5(PSTPIP1):c.869G>T (p.Arg290Leu)
|
rs761580488
|
|
NM_003978.5(PSTPIP1):c.874G>T (p.Val292Phe)
|
|
|
NM_003978.5(PSTPIP1):c.875T>C (p.Val292Ala)
|
|
|
NM_003978.5(PSTPIP1):c.893G>A (p.Ser298Asn)
|
rs1307593129
|
|
NM_003978.5(PSTPIP1):c.905A>G (p.Gln302Arg)
|
|
|
NM_003978.5(PSTPIP1):c.914G>C (p.Cys305Ser)
|
|
|
NM_003978.5(PSTPIP1):c.916G>A (p.Gly306Ser)
|
rs374204996
|
|
NM_003978.5(PSTPIP1):c.947A>G (p.His316Arg)
|
|
|
NM_003978.5(PSTPIP1):c.94G>A (p.Gly32Ser)
|
|
|
NM_003978.5(PSTPIP1):c.951_954dup (p.Pro319fs)
|
|
|
NM_003978.5(PSTPIP1):c.962C>T (p.Thr321Ile)
|
|
|
NM_003978.5(PSTPIP1):c.985+12C>G
|
|
|
NM_003978.5(PSTPIP1):c.985+6G>A
|
|
|
NM_003978.5(PSTPIP1):c.985+7G>A
|
|
|
NM_003978.5(PSTPIP1):c.993A>G (p.Thr331=)
|
|
|
NM_003978.5(PSTPIP1):c.995A>T (p.Glu332Val)
|
|
|
NM_003982.4(SLC7A7):c.1095+6T>C
|
rs531862402
|
|
NM_003982.4(SLC7A7):c.1211G>A (p.Arg404His)
|
rs201305817
|
|
NM_003982.4(SLC7A7):c.179A>G (p.Lys60Arg)
|
rs2039348646
|
|
NM_003982.4(SLC7A7):c.591G>A (p.Ala197=)
|
rs750720946
|
|
NM_003982.4(SLC7A7):c.931A>G (p.Ile311Val)
|
rs539843065
|
|
NM_004239.4(TRIP11):c.5221G>A (p.Asp1741Asn)
|
rs2140097408
|
|
NM_004273.5(CHST3):c.*1088A>G
|
rs115617050
|
|
NM_004273.5(CHST3):c.*1088A>T
|
rs115617050
|
|
NM_004273.5(CHST3):c.*1090G>A
|
rs148125052
|
|
NM_004273.5(CHST3):c.*1184C>G
|
rs187692473
|
|
NM_004273.5(CHST3):c.*1185C>G
|
rs373515105
|
|
NM_004273.5(CHST3):c.*1399T>C
|
rs562405951
|
|
NM_004273.5(CHST3):c.*1404C>G
|
rs886047170
|
|
NM_004273.5(CHST3):c.*1584T>G
|
rs886047171
|
|
NM_004273.5(CHST3):c.*2178G>T
|
rs886047174
|
|
NM_004273.5(CHST3):c.*238G>A
|
rs543236876
|
|
NM_004273.5(CHST3):c.*2656A>G
|
rs886047177
|
|
NM_004273.5(CHST3):c.*3167G>A
|
rs886047179
|
|
NM_004273.5(CHST3):c.*3384G>A
|
rs886047180
|
|
NM_004273.5(CHST3):c.*4609G>A
|
rs552018988
|
|
NM_004273.5(CHST3):c.*4820C>T
|
rs886047183
|
|
NM_004273.5(CHST3):c.*922C>T
|
rs886047164
|
|
NM_004273.5(CHST3):c.-108+6T>G
|
rs886047159
|
|
NM_004273.5(CHST3):c.306C>T (p.Gly102=)
|
rs776007496
|
|
NM_004273.5(CHST3):c.394C>G (p.Arg132Gly)
|
rs766145797
|
|
NM_004273.5(CHST3):c.7A>C (p.Lys3Gln)
|
rs199515173
|
|
NM_004273.5(CHST3):c.886G>C (p.Val296Leu)
|
rs762224143
|
|
NM_004304.5(ALK):c.1517T>C (p.Leu506Pro)
|
rs762569153
|
|
NM_004304.5(ALK):c.164C>A (p.Ala55Glu)
|
rs1217013970
|
|
NM_004327.4(BCR):c.3275_3278dup (p.Val1094fs)
|
rs372013175
|
|
NM_004343.4(CALR):c.1154_1155insTGTCG (p.Lys385fs)
|
|
|
NM_004364.5(CEBPA):c.*31G>C
|
rs2145257862
|
|
NM_004364.5(CEBPA):c.*6G>A
|
rs2145257960
|
|
NM_004364.5(CEBPA):c.*86C>T
|
rs991316142
|
|
NM_004364.5(CEBPA):c.*87G>A
|
rs1967150654
|
|
NM_004364.5(CEBPA):c.*93T>G
|
rs1600020107
|
|
NM_004364.5(CEBPA):c.1000G>A (p.Glu334Lys)
|
rs369632687
|
|
NM_004364.5(CEBPA):c.1000G>T (p.Glu334Ter)
|
|
|
NM_004364.5(CEBPA):c.1007A>G (p.Asp336Gly)
|
rs2145258387
|
|
NM_004364.5(CEBPA):c.100C>T (p.Pro34Ser)
|
rs996435066
|
|
NM_004364.5(CEBPA):c.1011G>C (p.Thr337=)
|
|
|
NM_004364.5(CEBPA):c.1019G>C (p.Gly340Ala)
|
|
|
NM_004364.5(CEBPA):c.1024T>G (p.Phe342Val)
|
rs1967158283
|
|
NM_004364.5(CEBPA):c.1025dup (p.Arg343fs)
|
rs1967158182
|
|
NM_004364.5(CEBPA):c.1028G>A (p.Arg343His)
|
rs1264760427
|
|
NM_004364.5(CEBPA):c.1028_1029delinsTT (p.Arg343Leu)
|
rs1967157714
|
|
NM_004364.5(CEBPA):c.1035G>A (p.Leu345=)
|
|
|
NM_004364.5(CEBPA):c.1035G>T (p.Leu345=)
|
|
|
NM_004364.5(CEBPA):c.1037C>G (p.Pro346Arg)
|
rs1967157361
|
|
NM_004364.5(CEBPA):c.1039G>C (p.Glu347Gln)
|
|
|
NM_004364.5(CEBPA):c.103C>T (p.Arg35Trp)
|
rs1238054852
|
|
NM_004364.5(CEBPA):c.103del (p.Arg35fs)
|
|
|
NM_004364.5(CEBPA):c.1044C>G (p.Ser348Arg)
|
|
|
NM_004364.5(CEBPA):c.1045T>A (p.Ser349Thr)
|
|
|
NM_004364.5(CEBPA):c.1045T>C (p.Ser349Pro)
|
rs1060502117
|
|
NM_004364.5(CEBPA):c.1046_1048del (p.Ser349del)
|
|
|
NM_004364.5(CEBPA):c.104G>A (p.Arg35Gln)
|
rs1967200345
|
|
NM_004364.5(CEBPA):c.1051G>C (p.Val351Leu)
|
rs373210526
|
|
NM_004364.5(CEBPA):c.1057G>A (p.Ala353Thr)
|
rs1317158199
|
|
NM_004364.5(CEBPA):c.1060A>C (p.Met354Leu)
|
rs1060502122
|
|
NM_004364.5(CEBPA):c.1063G>A (p.Gly355Ser)
|
|
|
NM_004364.5(CEBPA):c.1064G>A (p.Gly355Asp)
|
rs1358286265
|
|
NM_004364.5(CEBPA):c.1064G>T (p.Gly355Val)
|
rs1358286265
|
|
NM_004364.5(CEBPA):c.1066A>T (p.Asn356Tyr)
|
rs543441756
|
|
NM_004364.5(CEBPA):c.1069T>A (p.Cys357Ser)
|
|
|
NM_004364.5(CEBPA):c.1069_*2del (p.Cys357fs)
|
|
|
NM_004364.5(CEBPA):c.106G>A (p.Gly36Ser)
|
rs1967200117
|
|
NM_004364.5(CEBPA):c.1070G>A (p.Cys357Tyr)
|
|
|
NM_004364.5(CEBPA):c.1071C>A (p.Cys357Ter)
|
|
|
NM_004364.5(CEBPA):c.1071C>G (p.Cys357Trp)
|
rs1162154287
|
|
NM_004364.5(CEBPA):c.1073C>T (p.Ala358Val)
|
rs577659401
|
|
NM_004364.5(CEBPA):c.1074G>A (p.Ala358=)
|
|
|
NM_004364.5(CEBPA):c.109G>A (p.Ala37Thr)
|
rs1404014711
|
|
NM_004364.5(CEBPA):c.110C>T (p.Ala37Val)
|
|
|
NM_004364.5(CEBPA):c.112G>A (p.Gly38Ser)
|
|
|
NM_004364.5(CEBPA):c.112G>T (p.Gly38Cys)
|
|
|
NM_004364.5(CEBPA):c.113G>A (p.Gly38Asp)
|
rs1967199337
|
|
NM_004364.5(CEBPA):c.115C>G (p.Pro39Ala)
|
rs1967199149
|
|
NM_004364.5(CEBPA):c.116C>G (p.Pro39Arg)
|
|
|
NM_004364.5(CEBPA):c.116C>T (p.Pro39Leu)
|
rs1060502125
|
|
NM_004364.5(CEBPA):c.118G>A (p.Ala40Thr)
|
|
|
NM_004364.5(CEBPA):c.119C>T (p.Ala40Val)
|
rs1967198676
|
|
NM_004364.5(CEBPA):c.123G>C (p.Gln41His)
|
|
|
NM_004364.5(CEBPA):c.124C>T (p.Pro42Ser)
|
rs1382321984
|
|
NM_004364.5(CEBPA):c.124_125delinsTT (p.Pro42Phe)
|
rs2145264332
|
|
NM_004364.5(CEBPA):c.127C>T (p.Pro43Ser)
|
|
|
NM_004364.5(CEBPA):c.127_138del (p.Pro43_Pro46del)
|
rs1967197350
|
|
NM_004364.5(CEBPA):c.132_133delinsAA (p.Pro45Thr)
|
|
|
NM_004364.5(CEBPA):c.133C>G (p.Pro45Ala)
|
rs2145264273
|
|
NM_004364.5(CEBPA):c.134C>T (p.Pro45Leu)
|
|
|
NM_004364.5(CEBPA):c.13G>C (p.Asp5His)
|
rs2145265106
|
|
NM_004364.5(CEBPA):c.140C>T (p.Ala47Val)
|
rs1444506221
|
|
NM_004364.5(CEBPA):c.142G>T (p.Ala48Ser)
|
|
|
NM_004364.5(CEBPA):c.145C>A (p.Pro49Thr)
|
rs2145264153
|
|
NM_004364.5(CEBPA):c.146C>G (p.Pro49Arg)
|
|
|
NM_004364.5(CEBPA):c.146C>T (p.Pro49Leu)
|
|
|
NM_004364.5(CEBPA):c.14A>C (p.Asp5Ala)
|
rs1555742334
|
|
NM_004364.5(CEBPA):c.151C>G (p.Pro51Ala)
|
rs1278513408
|
|
NM_004364.5(CEBPA):c.151C>T (p.Pro51Ser)
|
rs1278513408
|
|
NM_004364.5(CEBPA):c.156G>T (p.Leu52=)
|
|
|
NM_004364.5(CEBPA):c.157G>A (p.Gly53Ser)
|
rs1967196253
|
|
NM_004364.5(CEBPA):c.158G>T (p.Gly53Val)
|
rs1600024079
|
|
NM_004364.5(CEBPA):c.160G>A (p.Gly54Ser)
|
rs777090929
|
|
NM_004364.5(CEBPA):c.160G>C (p.Gly54Arg)
|
|
|
NM_004364.5(CEBPA):c.166T>A (p.Cys56Ser)
|
|
|
NM_004364.5(CEBPA):c.168_169delinsGA (p.Cys56_Glu57delinsTrpLys)
|
|
|
NM_004364.5(CEBPA):c.169G>A (p.Glu57Lys)
|
|
|
NM_004364.5(CEBPA):c.16T>A (p.Phe6Ile)
|
rs1600024682
|
|
NM_004364.5(CEBPA):c.171G>C (p.Glu57Asp)
|
rs1967195766
|
|
NM_004364.5(CEBPA):c.171G>T (p.Glu57Asp)
|
|
|
NM_004364.5(CEBPA):c.174C>A (p.His58Gln)
|
|
|
NM_004364.5(CEBPA):c.174C>G (p.His58Gln)
|
rs878854699
|
|
NM_004364.5(CEBPA):c.178A>T (p.Thr60Ser)
|
rs1060502120
|
|
NM_004364.5(CEBPA):c.184A>G (p.Ile62Val)
|
rs558462037
|
|
NM_004364.5(CEBPA):c.186C>G (p.Ile62Met)
|
rs1967195162
|
|
NM_004364.5(CEBPA):c.187G>C (p.Asp63His)
|
rs1452063514
|
|
NM_004364.5(CEBPA):c.190A>G (p.Ile64Val)
|
rs1600023975
|
|
NM_004364.5(CEBPA):c.192C>T (p.Ile64=)
|
|
|
NM_004364.5(CEBPA):c.195C>G (p.Ser65Arg)
|
|
|
NM_004364.5(CEBPA):c.196G>A (p.Ala66Thr)
|
rs1967194734
|
|
NM_004364.5(CEBPA):c.196G>T (p.Ala66Ser)
|
|
|
NM_004364.5(CEBPA):c.198C>T (p.Ala66=)
|
|
|
NM_004364.5(CEBPA):c.200A>C (p.Tyr67Ser)
|
|
|
NM_004364.5(CEBPA):c.205G>C (p.Asp69His)
|
|
|
NM_004364.5(CEBPA):c.207C>G (p.Asp69Glu)
|
|
|
NM_004364.5(CEBPA):c.208C>A (p.Pro70Thr)
|
rs2145263768
|
|
NM_004364.5(CEBPA):c.209C>A (p.Pro70Gln)
|
rs1600023907
|
|
NM_004364.5(CEBPA):c.209C>T (p.Pro70Leu)
|
rs1600023907
|
|
NM_004364.5(CEBPA):c.211G>A (p.Ala71Thr)
|
rs1555742260
|
|
NM_004364.5(CEBPA):c.212C>T (p.Ala71Val)
|
|
|
NM_004364.5(CEBPA):c.214G>T (p.Ala72Ser)
|
rs2145263697
|
|
NM_004364.5(CEBPA):c.217T>G (p.Phe73Val)
|
|
|
NM_004364.5(CEBPA):c.218T>G (p.Phe73Cys)
|
rs1555742258
|
|
NM_004364.5(CEBPA):c.222CGA[1] (p.Asp75del)
|
rs1600023841
|
|
NM_004364.5(CEBPA):c.223G>A (p.Asp75Asn)
|
rs2145263642
|
|
NM_004364.5(CEBPA):c.225C>A (p.Asp75Glu)
|
rs949548349
|
|
NM_004364.5(CEBPA):c.226G>C (p.Glu76Gln)
|
|
|
NM_004364.5(CEBPA):c.227A>T (p.Glu76Val)
|
rs2145263620
|
|
NM_004364.5(CEBPA):c.228G>C (p.Glu76Asp)
|
|
|
NM_004364.5(CEBPA):c.22G>A (p.Glu8Lys)
|
rs1600024672
|
|
NM_004364.5(CEBPA):c.233T>A (p.Leu78Gln)
|
rs1967193304
|
|
NM_004364.5(CEBPA):c.236C>A (p.Ala79Asp)
|
|
|
NM_004364.5(CEBPA):c.236C>G (p.Ala79Gly)
|
rs1367071880
|
|
NM_004364.5(CEBPA):c.255C>A (p.Ser85Arg)
|
rs1424809396
|
|
NM_004364.5(CEBPA):c.257G>T (p.Arg86Leu)
|
rs1424468512
|
|
NM_004364.5(CEBPA):c.260A>C (p.Gln87Pro)
|
rs1967192346
|
|
NM_004364.5(CEBPA):c.263A>G (p.Gln88Arg)
|
rs2145263423
|
|
NM_004364.5(CEBPA):c.265_267del (p.Glu89del)
|
rs747773004
|
|
NM_004364.5(CEBPA):c.267G>T (p.Glu89Asp)
|
|
|
NM_004364.5(CEBPA):c.269A>C (p.Lys90Thr)
|
rs1600023742
|
|
NM_004364.5(CEBPA):c.26C>A (p.Ala9Glu)
|
rs2145265055
|
|
NM_004364.5(CEBPA):c.26C>T (p.Ala9Val)
|
|
|
NM_004364.5(CEBPA):c.270G>T (p.Lys90Asn)
|
|
|
NM_004364.5(CEBPA):c.271G>C (p.Ala91Pro)
|
|
|
NM_004364.5(CEBPA):c.276_277delinsTT (p.Lys92_Ala93delinsAsnSer)
|
|
|
NM_004364.5(CEBPA):c.277_278delinsAA (p.Ala93Lys)
|
rs878854701
|
|
NM_004364.5(CEBPA):c.278C>A (p.Ala93Glu)
|
rs1967191835
|
|
NM_004364.5(CEBPA):c.278C>G (p.Ala93Gly)
|
rs1967191835
|
|
NM_004364.5(CEBPA):c.278C>T (p.Ala93Val)
|
|
|
NM_004364.5(CEBPA):c.283G>A (p.Val95Met)
|
rs1356845856
|
|
NM_004364.5(CEBPA):c.283G>T (p.Val95Leu)
|
rs1356845856
|
|
NM_004364.5(CEBPA):c.284T>G (p.Val95Gly)
|
rs2145263298
|
|
NM_004364.5(CEBPA):c.289C>T (p.Pro97Ser)
|
rs1199712903
|
|
NM_004364.5(CEBPA):c.28G>A (p.Glu10Lys)
|
rs1555742327
|
|
NM_004364.5(CEBPA):c.290C>T (p.Pro97Leu)
|
rs1967191484
|
|
NM_004364.5(CEBPA):c.293C>G (p.Thr98Arg)
|
rs1490895935
|
|
NM_004364.5(CEBPA):c.293C>T (p.Thr98Met)
|
rs1490895935
|
|
NM_004364.5(CEBPA):c.294_296dup (p.Gly104dup)
|
rs1967191265
|
|
NM_004364.5(CEBPA):c.295G>A (p.Gly99Ser)
|
rs1967191321
|
|
NM_004364.5(CEBPA):c.296GCG[3] (p.Gly102_Gly104del)
|
rs780345232
|
|
NM_004364.5(CEBPA):c.296GCG[4] (p.Gly103_Gly104del)
|
rs780345232
|
|
NM_004364.5(CEBPA):c.296GCG[5] (p.Gly104del)
|
rs780345232
|
|
NM_004364.5(CEBPA):c.296GCG[8] (p.Gly103_Gly104dup)
|
rs780345232
|
|
NM_004364.5(CEBPA):c.296GCG[9] (p.Gly102_Gly104dup)
|
rs780345232
|
|
NM_004364.5(CEBPA):c.299G>A (p.Gly100Asp)
|
|
|
NM_004364.5(CEBPA):c.300C>A (p.Gly100=)
|
|
|
NM_004364.5(CEBPA):c.301G>A (p.Gly101Ser)
|
|
|
NM_004364.5(CEBPA):c.301G>T (p.Gly101Cys)
|
rs1600023637
|
|
NM_004364.5(CEBPA):c.304G>C (p.Gly102Arg)
|
rs1455462308
|
|
NM_004364.5(CEBPA):c.305G>C (p.Gly102Ala)
|
rs1358539228
|
|
NM_004364.5(CEBPA):c.307G>C (p.Gly103Arg)
|
|
|
NM_004364.5(CEBPA):c.308G>A (p.Gly103Asp)
|
rs2145263144
|
|
NM_004364.5(CEBPA):c.310G>A (p.Gly104Ser)
|
rs1216191482
|
|
NM_004364.5(CEBPA):c.310_315dup (p.Gly104_Asp105dup)
|
rs1420856782
|
|
NM_004364.5(CEBPA):c.313_315dup (p.Asp105dup)
|
rs1568420047
|
|
NM_004364.5(CEBPA):c.316T>G (p.Phe106Val)
|
|
|
NM_004364.5(CEBPA):c.318T>G (p.Phe106Leu)
|
rs1555742225
|
|
NM_004364.5(CEBPA):c.31C>A (p.Pro11Thr)
|
rs1555742325
|
|
NM_004364.5(CEBPA):c.31C>T (p.Pro11Ser)
|
rs1555742325
|
|
NM_004364.5(CEBPA):c.320A>G (p.Asp107Gly)
|
|
|
NM_004364.5(CEBPA):c.32C>A (p.Pro11Gln)
|
|
|
NM_004364.5(CEBPA):c.32C>G (p.Pro11Arg)
|
rs1967204111
|
|
NM_004364.5(CEBPA):c.32C>T (p.Pro11Leu)
|
rs1967204111
|
|
NM_004364.5(CEBPA):c.335C>T (p.Pro112Leu)
|
rs2145262888
|
|
NM_004364.5(CEBPA):c.343C>T (p.Pro115Ser)
|
rs2145262821
|
|
NM_004364.5(CEBPA):c.344C>T (p.Pro115Leu)
|
|
|
NM_004364.5(CEBPA):c.346G>A (p.Gly116Ser)
|
|
|
NM_004364.5(CEBPA):c.352G>A (p.Ala118Thr)
|
|
|
NM_004364.5(CEBPA):c.353C>T (p.Ala118Val)
|
rs2145262747
|
|
NM_004364.5(CEBPA):c.355G>A (p.Val119Ile)
|
rs902740061
|
|
NM_004364.5(CEBPA):c.355G>C (p.Val119Leu)
|
rs902740061
|
|
NM_004364.5(CEBPA):c.355_357dup (p.Val119dup)
|
rs2145262720
|
|
NM_004364.5(CEBPA):c.358A>G (p.Met120Val)
|
rs1555742209
|
|
NM_004364.5(CEBPA):c.361C>A (p.Pro121Thr)
|
|
|
NM_004364.5(CEBPA):c.361C>G (p.Pro121Ala)
|
rs1967187823
|
|
NM_004364.5(CEBPA):c.361C>T (p.Pro121Ser)
|
rs1967187823
|
|
NM_004364.5(CEBPA):c.362C>A (p.Pro121His)
|
rs1967187752
|
|
NM_004364.5(CEBPA):c.362C>T (p.Pro121Leu)
|
|
|
NM_004364.5(CEBPA):c.364G>A (p.Gly122Arg)
|
rs1013724730
|
|
NM_004364.5(CEBPA):c.365G>C (p.Gly122Ala)
|
rs1311096326
|
|
NM_004364.5(CEBPA):c.368G>T (p.Gly123Val)
|
rs1600023321
|
|
NM_004364.5(CEBPA):c.371C>A (p.Ala124Glu)
|
|
|
NM_004364.5(CEBPA):c.371C>T (p.Ala124Val)
|
|
|
NM_004364.5(CEBPA):c.375C>A (p.His125Gln)
|
|
|
NM_004364.5(CEBPA):c.376G>A (p.Gly126Arg)
|
|
|
NM_004364.5(CEBPA):c.377G>C (p.Gly126Ala)
|
rs2145262546
|
|
NM_004364.5(CEBPA):c.379C>T (p.Pro127Ser)
|
rs1055210725
|
|
NM_004364.5(CEBPA):c.37C>A (p.Pro13Thr)
|
rs961496947
|
|
NM_004364.5(CEBPA):c.37C>G (p.Pro13Ala)
|
rs961496947
|
|
NM_004364.5(CEBPA):c.37C>T (p.Pro13Ser)
|
rs961496947
|
|
NM_004364.5(CEBPA):c.380C>A (p.Pro127His)
|
|
|
NM_004364.5(CEBPA):c.383C>G (p.Pro128Arg)
|
rs878854702
|
|
NM_004364.5(CEBPA):c.383C>T (p.Pro128Leu)
|
rs878854702
|
|
NM_004364.5(CEBPA):c.386C>A (p.Pro129His)
|
rs1600023223
|
|
NM_004364.5(CEBPA):c.388G>T (p.Gly130Cys)
|
rs919904139
|
|
NM_004364.5(CEBPA):c.389G>A (p.Gly130Asp)
|
|
|
NM_004364.5(CEBPA):c.389G>T (p.Gly130Val)
|
|
|
NM_004364.5(CEBPA):c.38C>G (p.Pro13Arg)
|
rs2145264956
|
|
NM_004364.5(CEBPA):c.394G>A (p.Gly132Ser)
|
|
|
NM_004364.5(CEBPA):c.394G>C (p.Gly132Arg)
|
rs1038352346
|
|
NM_004364.5(CEBPA):c.394G>T (p.Gly132Cys)
|
|
|
NM_004364.5(CEBPA):c.394_414dup (p.Gly132_Tyr138dup)
|
rs2145262280
|
|
NM_004364.5(CEBPA):c.395G>A (p.Gly132Asp)
|
|
|
NM_004364.5(CEBPA):c.398G>A (p.Cys133Tyr)
|
|
|
NM_004364.5(CEBPA):c.403G>C (p.Ala135Pro)
|
|
|
NM_004364.5(CEBPA):c.406G>A (p.Ala136Thr)
|
rs1172993204
|
|
NM_004364.5(CEBPA):c.406G>T (p.Ala136Ser)
|
rs1172993204
|
|
NM_004364.5(CEBPA):c.407C>G (p.Ala136Gly)
|
rs1967185191
|
|
NM_004364.5(CEBPA):c.416T>C (p.Leu139Pro)
|
rs2145262262
|
|
NM_004364.5(CEBPA):c.416T>G (p.Leu139Arg)
|
rs2145262262
|
|
NM_004364.5(CEBPA):c.41C>A (p.Pro14Gln)
|
rs1007915253
|
|
NM_004364.5(CEBPA):c.41C>G (p.Pro14Arg)
|
rs1007915253
|
|
NM_004364.5(CEBPA):c.41C>T (p.Pro14Leu)
|
|
|
NM_004364.5(CEBPA):c.421G>A (p.Gly141Ser)
|
rs1408671093
|
|
NM_004364.5(CEBPA):c.423C>T (p.Gly141=)
|
|
|
NM_004364.5(CEBPA):c.425G>A (p.Arg142Lys)
|
rs1967184663
|
|
NM_004364.5(CEBPA):c.430G>A (p.Glu144Lys)
|
|
|
NM_004364.5(CEBPA):c.431A>G (p.Glu144Gly)
|
rs1967184550
|
|
NM_004364.5(CEBPA):c.432G>C (p.Glu144Asp)
|
rs1555742184
|
|
NM_004364.5(CEBPA):c.432G>T (p.Glu144Asp)
|
rs1555742184
|
|
NM_004364.5(CEBPA):c.434C>T (p.Pro145Leu)
|
rs2145262134
|
|
NM_004364.5(CEBPA):c.435C>A (p.Pro145=)
|
|
|
NM_004364.5(CEBPA):c.437T>C (p.Leu146Pro)
|
rs1481195051
|
|
NM_004364.5(CEBPA):c.439T>C (p.Tyr147His)
|
|
|
NM_004364.5(CEBPA):c.43A>C (p.Met15Leu)
|
rs1967203329
|
|
NM_004364.5(CEBPA):c.43A>G (p.Met15Val)
|
rs1967203329
|
|
NM_004364.5(CEBPA):c.440A>G (p.Tyr147Cys)
|
|
|
NM_004364.5(CEBPA):c.442G>A (p.Glu148Lys)
|
rs1388478228
|
|
NM_004364.5(CEBPA):c.445C>T (p.Arg149Cys)
|
rs2145262063
|
|
NM_004364.5(CEBPA):c.446G>A (p.Arg149His)
|
|
|
NM_004364.5(CEBPA):c.448G>T (p.Val150Phe)
|
rs1600023056
|
|
NM_004364.5(CEBPA):c.449T>A (p.Val150Asp)
|
rs2145262045
|
|
NM_004364.5(CEBPA):c.44T>A (p.Met15Lys)
|
|
|
NM_004364.5(CEBPA):c.44T>C (p.Met15Thr)
|
rs1600024585
|
|
NM_004364.5(CEBPA):c.450_468delinsTGAT (p.Gly151_Arg156delinsAsp)
|
rs1967182998
|
|
NM_004364.5(CEBPA):c.451G>A (p.Gly151Arg)
|
rs986682061
|
|
NM_004364.5(CEBPA):c.451G>C (p.Gly151Arg)
|
rs986682061
|
|
NM_004364.5(CEBPA):c.451G>T (p.Gly151Trp)
|
rs986682061
|
|
NM_004364.5(CEBPA):c.452G>A (p.Gly151Glu)
|
rs2145262013
|
|
NM_004364.5(CEBPA):c.455C>A (p.Ala152Glu)
|
rs1967183790
|
|
NM_004364.5(CEBPA):c.455C>T (p.Ala152Val)
|
rs1967183790
|
|
NM_004364.5(CEBPA):c.457C>T (p.Pro153Ser)
|
rs2145261985
|
|
NM_004364.5(CEBPA):c.458C>A (p.Pro153Gln)
|
rs1967183728
|
|
NM_004364.5(CEBPA):c.458C>G (p.Pro153Arg)
|
rs1967183728
|
|
NM_004364.5(CEBPA):c.458_523del (p.Pro153_Ala174del)
|
|
|
NM_004364.5(CEBPA):c.461C>T (p.Ala154Val)
|
|
|
NM_004364.5(CEBPA):c.46AGC[1] (p.Ser17del)
|
|
|
NM_004364.5(CEBPA):c.470C>T (p.Pro157Leu)
|
|
|
NM_004364.5(CEBPA):c.472C>A (p.Leu158Met)
|
|
|
NM_004364.5(CEBPA):c.473T>G (p.Leu158Arg)
|
|
|
NM_004364.5(CEBPA):c.475G>A (p.Val159Met)
|
|
|
NM_004364.5(CEBPA):c.475G>T (p.Val159Leu)
|
rs2145261853
|
|
NM_004364.5(CEBPA):c.478A>G (p.Ile160Val)
|
|
|
NM_004364.5(CEBPA):c.487G>A (p.Glu163Lys)
|
rs1347514128
|
|
NM_004364.5(CEBPA):c.487G>C (p.Glu163Gln)
|
|
|
NM_004364.5(CEBPA):c.489G>A (p.Glu163=)
|
|
|
NM_004364.5(CEBPA):c.489G>T (p.Glu163Asp)
|
|
|
NM_004364.5(CEBPA):c.493C>A (p.Arg165Ser)
|
rs1967182334
|
|
NM_004364.5(CEBPA):c.494G>A (p.Arg165His)
|
rs1481086547
|
|
NM_004364.5(CEBPA):c.49A>G (p.Ser17Gly)
|
rs2145264889
|
|
NM_004364.5(CEBPA):c.502G>A (p.Asp168Asn)
|
|
|
NM_004364.5(CEBPA):c.503A>T (p.Asp168Val)
|
rs2145261721
|
|
NM_004364.5(CEBPA):c.508G>A (p.Ala170Thr)
|
|
|
NM_004364.5(CEBPA):c.512A>C (p.Lys171Thr)
|
|
|
NM_004364.5(CEBPA):c.518T>C (p.Leu173Pro)
|
|
|
NM_004364.5(CEBPA):c.518T>G (p.Leu173Arg)
|
|
|
NM_004364.5(CEBPA):c.527C>G (p.Ala176Gly)
|
rs957167825
|
|
NM_004364.5(CEBPA):c.529G>A (p.Gly177Ser)
|
|
|
NM_004364.5(CEBPA):c.52C>T (p.His18Tyr)
|
rs1600024559
|
|
NM_004364.5(CEBPA):c.530G>A (p.Gly177Asp)
|
rs1967181220
|
|
NM_004364.5(CEBPA):c.532C>T (p.Leu178Phe)
|
rs1325138029
|
|
NM_004364.5(CEBPA):c.533T>C (p.Leu178Pro)
|
rs1967180974
|
|
NM_004364.5(CEBPA):c.543C>G (p.Tyr181Ter)
|
|
|
NM_004364.5(CEBPA):c.544C>A (p.Gln182Lys)
|
rs1600022835
|
|
NM_004364.5(CEBPA):c.545A>C (p.Gln182Pro)
|
rs1555742145
|
|
NM_004364.5(CEBPA):c.545A>G (p.Gln182Arg)
|
|
|
NM_004364.5(CEBPA):c.545A>T (p.Gln182Leu)
|
rs1555742145
|
|
NM_004364.5(CEBPA):c.546G>C (p.Gln182His)
|
rs2145261525
|
|
NM_004364.5(CEBPA):c.546GCC[10] (p.Pro187_Pro189dup)
|
rs746430067
|
|
NM_004364.5(CEBPA):c.546GCC[3] (p.Pro186_Pro189del)
|
rs746430067
|
|
NM_004364.5(CEBPA):c.546GCC[4] (p.Pro187_Pro189del)
|
rs746430067
|
|
NM_004364.5(CEBPA):c.546GCC[5] (p.Pro188_Pro189del)
|
rs746430067
|
|
NM_004364.5(CEBPA):c.546GCC[6] (p.Pro189del)
|
rs746430067
|
|
NM_004364.5(CEBPA):c.546GCC[8] (p.Pro189dup)
|
rs746430067
|
|
NM_004364.5(CEBPA):c.546GCC[9] (p.Pro188_Pro189dup)
|
rs746430067
|
|
NM_004364.5(CEBPA):c.548C>G (p.Pro183Arg)
|
rs1222448862
|
|
NM_004364.5(CEBPA):c.54C>G (p.His18Gln)
|
rs1600024552
|
|
NM_004364.5(CEBPA):c.551C>T (p.Pro184Leu)
|
|
|
NM_004364.5(CEBPA):c.554C>T (p.Pro185Leu)
|
rs2145261468
|
|
NM_004364.5(CEBPA):c.556C>T (p.Pro186Ser)
|
rs1303742006
|
|
NM_004364.5(CEBPA):c.557C>T (p.Pro186Leu)
|
rs1367523224
|
|
NM_004364.5(CEBPA):c.558_561del (p.Pro187fs)
|
rs1427211628
|
|
NM_004364.5(CEBPA):c.558_568delinsCTCGCACC (p.Pro187_Ser190delinsSerHisPro)
|
rs1568419793
|
|
NM_004364.5(CEBPA):c.560C>A (p.Pro187Gln)
|
rs1600022732
|
|
NM_004364.5(CEBPA):c.562C>T (p.Pro188Ser)
|
rs2145261406
|
|
NM_004364.5(CEBPA):c.563C>A (p.Pro188Gln)
|
rs1568419813
|
|
NM_004364.5(CEBPA):c.566_567insGCCCTCGCA (p.Pro189_Ser190insProSerHis)
|
rs1967178862
|
|
NM_004364.5(CEBPA):c.566_567insGCCGCCGCCCTCGCA (p.Pro189_Ser190insProProProSerHis)
|
rs1967178862
|
|
NM_004364.5(CEBPA):c.568_594del (p.Ser190_Pro198del)
|
|
|
NM_004364.5(CEBPA):c.569C>G (p.Ser190Trp)
|
rs1555742114
|
|
NM_004364.5(CEBPA):c.569_570insCCACCC (p.191HP[4])
|
rs2145261294
|
|
NM_004364.5(CEBPA):c.56T>G (p.Leu19Arg)
|
|
|
NM_004364.5(CEBPA):c.572A>T (p.His191Leu)
|
|
|
NM_004364.5(CEBPA):c.572ACCCGC[1] (p.191HP[1])
|
rs762459325
|
|
NM_004364.5(CEBPA):c.572ACCCGC[2] (p.191HP[2])
|
rs762459325
|
|
NM_004364.5(CEBPA):c.572ACCCGC[5] (p.191HP[5])
|
rs762459325
|
|
NM_004364.5(CEBPA):c.572ACCCGC[6] (p.191HP[6])
|
rs762459325
|
|
NM_004364.5(CEBPA):c.575C>G (p.Pro192Arg)
|
rs1247330890
|
|
NM_004364.5(CEBPA):c.576_577insTACCCG (p.Pro192_His193insTyrPro)
|
rs1555742103
|
|
NM_004364.5(CEBPA):c.577C>T (p.His193Tyr)
|
|
|
NM_004364.5(CEBPA):c.579_580insACGCAC (p.His193_Pro194insThrHis)
|
|
|
NM_004364.5(CEBPA):c.580C>A (p.Pro194Thr)
|
|
|
NM_004364.5(CEBPA):c.580C>G (p.Pro194Ala)
|
rs1967177805
|
|
NM_004364.5(CEBPA):c.581C>A (p.Pro194Gln)
|
|
|
NM_004364.5(CEBPA):c.581C>G (p.Pro194Arg)
|
rs1487598012
|
|
NM_004364.5(CEBPA):c.583C>T (p.His195Tyr)
|
rs1213752306
|
|
NM_004364.5(CEBPA):c.584A>C (p.His195Pro)
|
|
|
NM_004364.5(CEBPA):c.585C>G (p.His195Gln)
|
rs2145261171
|
|
NM_004364.5(CEBPA):c.588G>C (p.Pro196=)
|
|
|
NM_004364.5(CEBPA):c.590C>T (p.Pro197Leu)
|
rs1568419745
|
|
NM_004364.5(CEBPA):c.592C>A (p.Pro198Thr)
|
rs2145261086
|
|
NM_004364.5(CEBPA):c.592C>T (p.Pro198Ser)
|
rs2145261086
|
|
NM_004364.5(CEBPA):c.595G>A (p.Ala199Thr)
|
rs1308416905
|
|
NM_004364.5(CEBPA):c.595_596delinsTT (p.Ala199Leu)
|
rs1060502118
|
|
NM_004364.5(CEBPA):c.598C>G (p.His200Asp)
|
rs2145261016
|
|
NM_004364.5(CEBPA):c.600C>G (p.His200Gln)
|
|
|
NM_004364.5(CEBPA):c.605C>T (p.Ala202Val)
|
rs1316179719
|
|
NM_004364.5(CEBPA):c.606C>T (p.Ala202=)
|
|
|
NM_004364.5(CEBPA):c.607_608delinsTT (p.Ala203Phe)
|
|
|
NM_004364.5(CEBPA):c.60G>C (p.Gln20His)
|
rs1060502123
|
|
NM_004364.5(CEBPA):c.610C>G (p.Pro204Ala)
|
rs1600022363
|
|
NM_004364.5(CEBPA):c.611C>G (p.Pro204Arg)
|
|
|
NM_004364.5(CEBPA):c.611C>T (p.Pro204Leu)
|
|
|
NM_004364.5(CEBPA):c.614A>G (p.His205Arg)
|
rs1568419698
|
|
NM_004364.5(CEBPA):c.616C>A (p.Leu206Met)
|
|
|
NM_004364.5(CEBPA):c.622T>G (p.Phe208Val)
|
|
|
NM_004364.5(CEBPA):c.624C>A (p.Phe208Leu)
|
rs2145260930
|
|
NM_004364.5(CEBPA):c.62G>A (p.Ser21Asn)
|
|
|
NM_004364.5(CEBPA):c.62G>T (p.Ser21Ile)
|
rs890855027
|
|
NM_004364.5(CEBPA):c.631G>A (p.Ala211Thr)
|
rs1568419687
|
|
NM_004364.5(CEBPA):c.631G>C (p.Ala211Pro)
|
rs1568419687
|
|
NM_004364.5(CEBPA):c.631G>T (p.Ala211Ser)
|
rs1568419687
|
|
NM_004364.5(CEBPA):c.634C>G (p.His212Asp)
|
rs1433126196
|
|
NM_004364.5(CEBPA):c.634C>T (p.His212Tyr)
|
rs1433126196
|
|
NM_004364.5(CEBPA):c.635A>C (p.His212Pro)
|
|
|
NM_004364.5(CEBPA):c.635A>G (p.His212Arg)
|
rs1967174956
|
|
NM_004364.5(CEBPA):c.639C>A (p.Cys213Ter)
|
rs1967174687
|
|
NM_004364.5(CEBPA):c.63C>A (p.Ser21Arg)
|
rs867113214
|
|
NM_004364.5(CEBPA):c.63C>G (p.Ser21Arg)
|
|
|
NM_004364.5(CEBPA):c.640G>A (p.Gly214Ser)
|
|
|
NM_004364.5(CEBPA):c.641G>T (p.Gly214Val)
|
rs1967174628
|
|
NM_004364.5(CEBPA):c.646A>G (p.Thr216Ala)
|
rs1600022240
|
|
NM_004364.5(CEBPA):c.649A>G (p.Thr217Ala)
|
rs1967174429
|
|
NM_004364.5(CEBPA):c.64C>A (p.Pro22Thr)
|
rs770636941
|
|
NM_004364.5(CEBPA):c.652A>C (p.Met218Leu)
|
|
|
NM_004364.5(CEBPA):c.653T>C (p.Met218Thr)
|
|
|
NM_004364.5(CEBPA):c.654G>A (p.Met218Ile)
|
|
|
NM_004364.5(CEBPA):c.654G>T (p.Met218Ile)
|
rs1555742071
|
|
NM_004364.5(CEBPA):c.655C>A (p.His219Asn)
|
rs1568419664
|
|
NM_004364.5(CEBPA):c.662A>T (p.Gln221Leu)
|
rs2145260807
|
|
NM_004364.5(CEBPA):c.664C>T (p.Pro222Ser)
|
rs1568419654
|
|
NM_004364.5(CEBPA):c.665C>T (p.Pro222Leu)
|
|
|
NM_004364.5(CEBPA):c.668G>A (p.Gly223Asp)
|
rs2145260788
|
|
NM_004364.5(CEBPA):c.668G>C (p.Gly223Ala)
|
|
|
NM_004364.5(CEBPA):c.672C>G (p.His224Gln)
|
|
|
NM_004364.5(CEBPA):c.674C>T (p.Pro225Leu)
|
rs1241253530
|
|
NM_004364.5(CEBPA):c.67C>A (p.Pro23Thr)
|
rs1478319097
|
|
NM_004364.5(CEBPA):c.67C>T (p.Pro23Ser)
|
rs1478319097
|
|
NM_004364.5(CEBPA):c.680C>T (p.Pro227Leu)
|
|
|
NM_004364.5(CEBPA):c.686C>G (p.Pro229Arg)
|
|
|
NM_004364.5(CEBPA):c.68C>A (p.Pro23Gln)
|
rs1308550194
|
|
NM_004364.5(CEBPA):c.68C>G (p.Pro23Arg)
|
|
|
NM_004364.5(CEBPA):c.695T>C (p.Val232Ala)
|
rs1600022098
|
|
NM_004364.5(CEBPA):c.697C>G (p.Pro233Ala)
|
|
|
NM_004364.5(CEBPA):c.697C>T (p.Pro233Ser)
|
|
|
NM_004364.5(CEBPA):c.698C>A (p.Pro233His)
|
rs1352573347
|
|
NM_004364.5(CEBPA):c.698C>G (p.Pro233Arg)
|
|
|
NM_004364.5(CEBPA):c.6G>C (p.Glu2Asp)
|
rs2145265146
|
|
NM_004364.5(CEBPA):c.700A>G (p.Ser234Gly)
|
|
|
NM_004364.5(CEBPA):c.704C>G (p.Pro235Arg)
|
|
|
NM_004364.5(CEBPA):c.706C>A (p.His236Asn)
|
|
|
NM_004364.5(CEBPA):c.709C>T (p.Pro237Ser)
|
rs921077083
|
|
NM_004364.5(CEBPA):c.710C>G (p.Pro237Arg)
|
rs1967172281
|
|
NM_004364.5(CEBPA):c.710C>T (p.Pro237Leu)
|
rs1967172281
|
|
NM_004364.5(CEBPA):c.710CCGCGC[3] (p.237PA[3])
|
rs1967171960
|
|
NM_004364.5(CEBPA):c.713C>A (p.Ala238Glu)
|
rs3745972
|
|
NM_004364.5(CEBPA):c.713C>G (p.Ala238Gly)
|
|
|
NM_004364.5(CEBPA):c.713C>T (p.Ala238Val)
|
rs3745972
|
|
NM_004364.5(CEBPA):c.716C>T (p.Pro239Leu)
|
rs2145260550
|
|
NM_004364.5(CEBPA):c.718G>A (p.Ala240Thr)
|
|
|
NM_004364.5(CEBPA):c.719C>T (p.Ala240Val)
|
|
|
NM_004364.5(CEBPA):c.719_724dup (p.Ala240_Leu241dup)
|
rs2145260517
|
|
NM_004364.5(CEBPA):c.722T>C (p.Leu241Pro)
|
rs2145260532
|
|
NM_004364.5(CEBPA):c.724G>C (p.Gly242Arg)
|
|
|
NM_004364.5(CEBPA):c.727G>A (p.Ala243Thr)
|
rs2145260494
|
|
NM_004364.5(CEBPA):c.72C>A (p.His24Gln)
|
rs1555742309
|
|
NM_004364.5(CEBPA):c.72C>G (p.His24Gln)
|
rs1555742309
|
|
NM_004364.5(CEBPA):c.730G>A (p.Ala244Thr)
|
rs957444896
|
|
NM_004364.5(CEBPA):c.733G>C (p.Gly245Arg)
|
|
|
NM_004364.5(CEBPA):c.734G>A (p.Gly245Asp)
|
|
|
NM_004364.5(CEBPA):c.73G>C (p.Ala25Pro)
|
rs1600024440
|
|
NM_004364.5(CEBPA):c.743G>A (p.Gly248Asp)
|
rs1967171226
|
|
NM_004364.5(CEBPA):c.743G>T (p.Gly248Val)
|
|
|
NM_004364.5(CEBPA):c.748G>A (p.Gly250Ser)
|
rs1555742056
|
|
NM_004364.5(CEBPA):c.74C>T (p.Ala25Val)
|
rs2145264688
|
|
NM_004364.5(CEBPA):c.751A>G (p.Ser251Gly)
|
rs1382832060
|
|
NM_004364.5(CEBPA):c.751A>T (p.Ser251Cys)
|
|
|
NM_004364.5(CEBPA):c.752G>C (p.Ser251Thr)
|
rs1967170735
|
|
NM_004364.5(CEBPA):c.756_757delinsCT (p.Leu253Phe)
|
rs2145260308
|
|
NM_004364.5(CEBPA):c.763G>A (p.Gly255Arg)
|
rs1967170243
|
|
NM_004364.5(CEBPA):c.764G>A (p.Gly255Glu)
|
rs2145260264
|
|
NM_004364.5(CEBPA):c.768G>T (p.Leu256=)
|
|
|
NM_004364.5(CEBPA):c.775G>A (p.Ala259Thr)
|
|
|
NM_004364.5(CEBPA):c.776C>G (p.Ala259Gly)
|
rs746895795
|
|
NM_004364.5(CEBPA):c.778C>A (p.His260Asn)
|
|
|
NM_004364.5(CEBPA):c.778C>T (p.His260Tyr)
|
|
|
NM_004364.5(CEBPA):c.77C>G (p.Pro26Arg)
|
|
|
NM_004364.5(CEBPA):c.780C>A (p.His260Gln)
|
rs1429055509
|
|
NM_004364.5(CEBPA):c.782C>G (p.Pro261Arg)
|
rs1184283480
|
|
NM_004364.5(CEBPA):c.786C>A (p.Asp262Glu)
|
rs747881336
|
|
NM_004364.5(CEBPA):c.788T>G (p.Leu263Arg)
|
|
|
NM_004364.5(CEBPA):c.791G>A (p.Arg264His)
|
|
|
NM_004364.5(CEBPA):c.793_794delinsAT (p.Ala265Met)
|
rs1555742019
|
|
NM_004364.5(CEBPA):c.794C>T (p.Ala265Val)
|
|
|
NM_004364.5(CEBPA):c.797del (p.Ser266fs)
|
rs2145260029
|
|
NM_004364.5(CEBPA):c.799G>A (p.Gly267Ser)
|
|
|
NM_004364.5(CEBPA):c.79A>G (p.Ser27Gly)
|
rs1967201448
|
|
NM_004364.5(CEBPA):c.802G>A (p.Gly268Ser)
|
rs1568419433
|
|
NM_004364.5(CEBPA):c.802G>T (p.Gly268Cys)
|
rs1568419433
|
|
NM_004364.5(CEBPA):c.808G>A (p.Gly270Ser)
|
|
|
NM_004364.5(CEBPA):c.80G>C (p.Ser27Thr)
|
rs2145264644
|
|
NM_004364.5(CEBPA):c.811G>A (p.Ala271Thr)
|
rs756632245
|
|
NM_004364.5(CEBPA):c.811G>T (p.Ala271Ser)
|
rs756632245
|
|
NM_004364.5(CEBPA):c.811_812delinsTT (p.Ala271Leu)
|
rs2145259941
|
|
NM_004364.5(CEBPA):c.812C>G (p.Ala271Gly)
|
rs1403352822
|
|
NM_004364.5(CEBPA):c.812C>T (p.Ala271Val)
|
|
|
NM_004364.5(CEBPA):c.815G>A (p.Gly272Asp)
|
|
|
NM_004364.5(CEBPA):c.815G>C (p.Gly272Ala)
|
|
|
NM_004364.5(CEBPA):c.815G>T (p.Gly272Val)
|
rs1162467731
|
|
NM_004364.5(CEBPA):c.816C>T (p.Gly272=)
|
|
|
NM_004364.5(CEBPA):c.817A>G (p.Lys273Glu)
|
|
|
NM_004364.5(CEBPA):c.81C>G (p.Ser27Arg)
|
rs111662895
|
|
NM_004364.5(CEBPA):c.821C>T (p.Ala274Val)
|
rs767673311
|
|
NM_004364.5(CEBPA):c.824A>C (p.Lys275Thr)
|
|
|
NM_004364.5(CEBPA):c.824A>G (p.Lys275Arg)
|
rs757273086
|
|
NM_004364.5(CEBPA):c.827A>C (p.Lys276Thr)
|
|
|
NM_004364.5(CEBPA):c.830C>A (p.Ser277Ter)
|
rs1269133775
|
|
NM_004364.5(CEBPA):c.835G>T (p.Asp279Tyr)
|
rs1967166324
|
|
NM_004364.5(CEBPA):c.836A>G (p.Asp279Gly)
|
rs1568419375
|
|
NM_004364.5(CEBPA):c.83G>A (p.Ser28Asn)
|
rs2145264621
|
|
NM_004364.5(CEBPA):c.841A>G (p.Asn281Asp)
|
|
|
NM_004364.5(CEBPA):c.844A>C (p.Ser282Arg)
|
|
|
NM_004364.5(CEBPA):c.844A>G (p.Ser282Gly)
|
|
|
NM_004364.5(CEBPA):c.847A>C (p.Asn283His)
|
|
|
NM_004364.5(CEBPA):c.849C>G (p.Asn283Lys)
|
|
|
NM_004364.5(CEBPA):c.850G>A (p.Glu284Lys)
|
rs1002344182
|
|
NM_004364.5(CEBPA):c.852G>T (p.Glu284Asp)
|
rs376856647
|
|
NM_004364.5(CEBPA):c.859G>C (p.Val287Leu)
|
rs2145259628
|
|
NM_004364.5(CEBPA):c.85G>T (p.Ala29Ser)
|
rs2145264604
|
|
NM_004364.5(CEBPA):c.862C>T (p.Arg288Trp)
|
rs971619935
|
|
NM_004364.5(CEBPA):c.863G>C (p.Arg288Pro)
|
rs1064794962
|
|
NM_004364.5(CEBPA):c.866G>T (p.Arg289Leu)
|
|
|
NM_004364.5(CEBPA):c.868G>T (p.Glu290Ter)
|
rs1967164835
|
|
NM_004364.5(CEBPA):c.872G>A (p.Arg291His)
|
rs1967164761
|
|
NM_004364.5(CEBPA):c.875A>G (p.Asn292Ser)
|
rs776590829
|
|
NM_004364.5(CEBPA):c.875ACA[1] (p.Asn293del)
|
|
|
NM_004364.5(CEBPA):c.882C>G (p.Ile294Met)
|
rs376093748
|
|
NM_004364.5(CEBPA):c.88G>T (p.Ala30Ser)
|
rs1555742305
|
|
NM_004364.5(CEBPA):c.890G>T (p.Arg297Leu)
|
rs1600021258
|
|
NM_004364.5(CEBPA):c.891dup (p.Lys298fs)
|
|
|
NM_004364.5(CEBPA):c.898_913dup (p.Gln305fs)
|
rs1600021166
|
|
NM_004364.5(CEBPA):c.8C>T (p.Ser3Leu)
|
|
|
NM_004364.5(CEBPA):c.901G>A (p.Asp301Asn)
|
rs1967163668
|
|
NM_004364.5(CEBPA):c.906G>A (p.Lys302=)
|
|
|
NM_004364.5(CEBPA):c.907G>A (p.Ala303Thr)
|
rs867994533
|
|
NM_004364.5(CEBPA):c.913C>G (p.Gln305Glu)
|
rs747606716
|
|
NM_004364.5(CEBPA):c.913C>T (p.Gln305Ter)
|
|
|
NM_004364.5(CEBPA):c.914A>G (p.Gln305Arg)
|
rs1479225242
|
|
NM_004364.5(CEBPA):c.916C>A (p.Arg306Ser)
|
|
|
NM_004364.5(CEBPA):c.918C>G (p.Arg306=)
|
|
|
NM_004364.5(CEBPA):c.919A>T (p.Asn307Tyr)
|
|
|
NM_004364.5(CEBPA):c.921_938del (p.Asn307_Gln312del)
|
|
|
NM_004364.5(CEBPA):c.922G>A (p.Val308Met)
|
rs1182945213
|
|
NM_004364.5(CEBPA):c.922G>T (p.Val308Leu)
|
rs1182945213
|
|
NM_004364.5(CEBPA):c.925G>C (p.Glu309Gln)
|
|
|
NM_004364.5(CEBPA):c.925G>T (p.Glu309Ter)
|
|
|
NM_004364.5(CEBPA):c.926A>C (p.Glu309Ala)
|
rs1568419235
|
|
NM_004364.5(CEBPA):c.926A>G (p.Glu309Gly)
|
rs1568419235
|
|
NM_004364.5(CEBPA):c.931C>T (p.Gln311Ter)
|
rs1967162539
|
|
NM_004364.5(CEBPA):c.932A>T (p.Gln311Leu)
|
rs2145258913
|
|
NM_004364.5(CEBPA):c.934C>T (p.Gln312Ter)
|
|
|
NM_004364.5(CEBPA):c.93C>G (p.Phe31Leu)
|
|
|
NM_004364.5(CEBPA):c.943C>T (p.Leu315=)
|
|
|
NM_004364.5(CEBPA):c.946G>C (p.Glu316Gln)
|
|
|
NM_004364.5(CEBPA):c.94G>A (p.Gly32Ser)
|
rs1348778034
|
|
NM_004364.5(CEBPA):c.952A>C (p.Thr318Pro)
|
rs2145258767
|
|
NM_004364.5(CEBPA):c.955A>C (p.Ser319Arg)
|
rs1555741962
|
|
NM_004364.5(CEBPA):c.955A>G (p.Ser319Gly)
|
rs1555741962
|
|
NM_004364.5(CEBPA):c.964G>A (p.Asp322Asn)
|
rs2145258655
|
|
NM_004364.5(CEBPA):c.964_965delinsAT (p.Asp322Ile)
|
rs2145258643
|
|
NM_004364.5(CEBPA):c.966C>A (p.Asp322Glu)
|
rs903305652
|
|
NM_004364.5(CEBPA):c.967C>T (p.Arg323Cys)
|
|
|
NM_004364.5(CEBPA):c.968G>T (p.Arg323Leu)
|
rs1421674520
|
|
NM_004364.5(CEBPA):c.96C>A (p.Gly32=)
|
|
|
NM_004364.5(CEBPA):c.973C>A (p.Arg325Ser)
|
rs781549846
|
|
NM_004364.5(CEBPA):c.982G>A (p.Val328Met)
|
|
|
NM_004364.5(CEBPA):c.982_985del (p.Val328fs)
|
rs1967160131
|
|
NM_004364.5(CEBPA):c.985G>A (p.Glu329Lys)
|
rs1568419162
|
|
NM_004364.5(CEBPA):c.989A>C (p.Gln330Pro)
|
rs1555741952
|
|
NM_004364.5(CEBPA):c.997C>T (p.Arg333Cys)
|
|
|
NM_004364.5(CEBPA):c.99T>C (p.Phe33=)
|
|
|
NM_004371.4(COPA):c.1031T>A (p.Leu344Gln)
|
|
|
NM_004371.4(COPA):c.1040A>G (p.Asn347Ser)
|
|
|
NM_004371.4(COPA):c.1070_1072dup (p.Leu357dup)
|
rs1658978401
|
|
NM_004371.4(COPA):c.1073G>A (p.Arg358Gln)
|
rs769060273
|
|
NM_004371.4(COPA):c.1079G>A (p.Gly360Asp)
|
|
|
NM_004371.4(COPA):c.1109A>C (p.Tyr370Ser)
|
rs1658920265
|
|
NM_004371.4(COPA):c.110A>C (p.Asp37Ala)
|
|
|
NM_004371.4(COPA):c.1132C>T (p.Leu378=)
|
|
|
NM_004371.4(COPA):c.115C>T (p.Arg39Trp)
|
|
|
NM_004371.4(COPA):c.1203C>A (p.Asp401Glu)
|
|
|
NM_004371.4(COPA):c.1213C>A (p.Pro405Thr)
|
|
|
NM_004371.4(COPA):c.1219+5G>A
|
|
|
NM_004371.4(COPA):c.1222C>T (p.Pro408Ser)
|
|
|
NM_004371.4(COPA):c.1255G>A (p.Val419Ile)
|
|
|
NM_004371.4(COPA):c.1265C>T (p.Ala422Val)
|
rs1658816918
|
|
NM_004371.4(COPA):c.1270A>G (p.Asn424Asp)
|
|
|
NM_004371.4(COPA):c.1291C>T (p.Arg431Trp)
|
|
|
NM_004371.4(COPA):c.1302G>A (p.Ser434=)
|
|
|
NM_004371.4(COPA):c.1303-3C>T
|
rs1658789926
|
|
NM_004371.4(COPA):c.1303C>A (p.Leu435Ile)
|
rs1300223116
|
|
NM_004371.4(COPA):c.1363G>A (p.Glu455Lys)
|
rs2101837690
|
|
NM_004371.4(COPA):c.1367TCT[1] (p.Phe457del)
|
rs2101837675
|
|
NM_004371.4(COPA):c.1385G>A (p.Gly462Asp)
|
rs2101837649
|
|
NM_004371.4(COPA):c.1403A>T (p.Asp468Val)
|
|
|
NM_004371.4(COPA):c.1429G>A (p.Val477Ile)
|
|
|
NM_004371.4(COPA):c.1430T>C (p.Val477Ala)
|
|
|
NM_004371.4(COPA):c.1437G>A (p.Gln479=)
|
|
|
NM_004371.4(COPA):c.1442+8A>G
|
|
|
NM_004371.4(COPA):c.1456G>T (p.Val486Leu)
|
rs1383766227
|
|
NM_004371.4(COPA):c.1472T>C (p.Val491Ala)
|
rs1571158645
|
|
NM_004371.4(COPA):c.1505A>G (p.His502Arg)
|
rs764189695
|
|
NM_004371.4(COPA):c.1508T>C (p.Val503Ala)
|
rs2101836771
|
|
NM_004371.4(COPA):c.1528G>A (p.Ala510Thr)
|
|
|
NM_004371.4(COPA):c.1601C>T (p.Ala534Val)
|
|
|
NM_004371.4(COPA):c.1606G>A (p.Asp536Asn)
|
|
|
NM_004371.4(COPA):c.1611G>C (p.Glu537Asp)
|
|
|
NM_004371.4(COPA):c.1615G>T (p.Gly539Trp)
|
|
|
NM_004371.4(COPA):c.161T>C (p.Val54Ala)
|
|
|
NM_004371.4(COPA):c.1631C>A (p.Thr544Asn)
|
rs1658752272
|
|
NM_004371.4(COPA):c.1645A>G (p.Ile549Val)
|
|
|
NM_004371.4(COPA):c.166G>A (p.Gly56Ser)
|
|
|
NM_004371.4(COPA):c.1690C>G (p.Leu564Val)
|
|
|
NM_004371.4(COPA):c.1706A>G (p.Tyr569Cys)
|
|
|
NM_004371.4(COPA):c.1732G>A (p.Val578Ile)
|
|
|
NM_004371.4(COPA):c.1735T>C (p.Tyr579His)
|
|
|
NM_004371.4(COPA):c.1759C>T (p.Pro587Ser)
|
rs1272309771
|
|
NM_004371.4(COPA):c.1765G>A (p.Val589Ile)
|
|
|
NM_004371.4(COPA):c.1772C>A (p.Thr591Asn)
|
rs1032077330
|
|
NM_004371.4(COPA):c.1783A>G (p.Thr595Ala)
|
rs2101829389
|
|
NM_004371.4(COPA):c.1814A>G (p.Asn605Ser)
|
|
|
NM_004371.4(COPA):c.1849A>G (p.Asn617Asp)
|
rs1658504046
|
|
NM_004371.4(COPA):c.1857A>T (p.Lys619Asn)
|
|
|
NM_004371.4(COPA):c.1874T>C (p.Ile625Thr)
|
rs2101829131
|
|
NM_004371.4(COPA):c.1898_1899delinsCT (p.Gly633Ala)
|
|
|
NM_004371.4(COPA):c.1943G>T (p.Arg648Leu)
|
rs746774599
|
|
NM_004371.4(COPA):c.1951C>G (p.Leu651Val)
|
|
|
NM_004371.4(COPA):c.1962G>C (p.Glu654Asp)
|
rs932482882
|
|
NM_004371.4(COPA):c.1975G>C (p.Glu659Gln)
|
|
|
NM_004371.4(COPA):c.1984C>G (p.Leu662Val)
|
rs1014100360
|
|
NM_004371.4(COPA):c.2010C>A (p.Asp670Glu)
|
|
|
NM_004371.4(COPA):c.2012A>G (p.Lys671Arg)
|
|
|
NM_004371.4(COPA):c.2089A>G (p.Thr697Ala)
|
|
|
NM_004371.4(COPA):c.2149C>T (p.Arg717Cys)
|
rs555657245
|
|
NM_004371.4(COPA):c.2177G>A (p.Arg726Lys)
|
rs2101827483
|
|
NM_004371.4(COPA):c.2197T>C (p.Tyr733His)
|
|
|
NM_004371.4(COPA):c.2213A>G (p.Tyr738Cys)
|
|
|
NM_004371.4(COPA):c.2239C>A (p.Arg747=)
|
|
|
NM_004371.4(COPA):c.225T>G (p.Ile75Met)
|
|
|
NM_004371.4(COPA):c.2263+3A>G
|
|
|
NM_004371.4(COPA):c.2263+4A>G
|
rs774007795
|
|
NM_004371.4(COPA):c.2276A>G (p.Tyr759Cys)
|
rs766436110
|
|
NM_004371.4(COPA):c.228+17A>G
|
|
|
NM_004371.4(COPA):c.228+5A>G
|
rs766246693
|
|
NM_004371.4(COPA):c.2284G>T (p.Ala762Ser)
|
|
|
NM_004371.4(COPA):c.229-3C>T
|
rs769582641
|
|
NM_004371.4(COPA):c.2291C>T (p.Thr764Ile)
|
|
|
NM_004371.4(COPA):c.2296G>T (p.Gly766Cys)
|
rs1658403444
|
|
NM_004371.4(COPA):c.2314G>C (p.Glu772Gln)
|
rs1334352247
|
|
NM_004371.4(COPA):c.2315A>G (p.Glu772Gly)
|
|
|
NM_004371.4(COPA):c.2317A>C (p.Ser773Arg)
|
rs750280942
|
|
NM_004371.4(COPA):c.2317A>G (p.Ser773Gly)
|
rs750280942
|
|
NM_004371.4(COPA):c.2326G>A (p.Glu776Lys)
|
|
|
NM_004371.4(COPA):c.2329A>T (p.Thr777Ser)
|
rs2101825999
|
|
NM_004371.4(COPA):c.2330C>T (p.Thr777Ile)
|
rs913037992
|
|
NM_004371.4(COPA):c.2349G>C (p.Glu783Asp)
|
rs1658401288
|
|
NM_004371.4(COPA):c.2375C>T (p.Ala792Val)
|
|
|
NM_004371.4(COPA):c.2398C>T (p.Pro800Ser)
|
rs1557861270
|
|
NM_004371.4(COPA):c.2414A>G (p.Asp805Gly)
|
|
|
NM_004371.4(COPA):c.2440T>C (p.Ser814Pro)
|
|
|
NM_004371.4(COPA):c.2476+5G>A
|
|
|
NM_004371.4(COPA):c.2476+6T>A
|
|
|
NM_004371.4(COPA):c.2476+9C>T
|
rs758402711
|
|
NM_004371.4(COPA):c.2483GAG[1] (p.Gly829del)
|
|
|
NM_004371.4(COPA):c.2486G>A (p.Gly829Glu)
|
|
|
NM_004371.4(COPA):c.2498C>T (p.Ala833Val)
|
rs746722049
|
|
NM_004371.4(COPA):c.2504TTGACA[1] (p.835ID[1])
|
rs772631508
|
|
NM_004371.4(COPA):c.2508C>A (p.Asp836Glu)
|
rs771649069
|
|
NM_004371.4(COPA):c.2511T>G (p.Ile837Met)
|
|
|
NM_004371.4(COPA):c.2513A>C (p.Asp838Ala)
|
|
|
NM_004371.4(COPA):c.2522G>A (p.Gly841Asp)
|
|
|
NM_004371.4(COPA):c.2526A>G (p.Thr842=)
|
rs1658347201
|
|
NM_004371.4(COPA):c.2536G>A (p.Gly846Arg)
|
rs777487139
|
|
NM_004371.4(COPA):c.2539G>A (p.Glu847Lys)
|
rs1658346694
|
|
NM_004371.4(COPA):c.2543A>T (p.Asp848Val)
|
|
|
NM_004371.4(COPA):c.2556G>T (p.Gln852His)
|
rs1658345672
|
|
NM_004371.4(COPA):c.2559G>T (p.Leu853Phe)
|
|
|
NM_004371.4(COPA):c.2560G>A (p.Asp854Asn)
|
|
|
NM_004371.4(COPA):c.2575G>A (p.Val859Met)
|
rs540161688
|
|
NM_004371.4(COPA):c.2598_2600del (p.Asp868del)
|
|
|
NM_004371.4(COPA):c.2602G>A (p.Asp868Asn)
|
|
|
NM_004371.4(COPA):c.2608C>T (p.Leu870Phe)
|
rs1222094117
|
|
NM_004371.4(COPA):c.2646AGA[2] (p.Glu884del)
|
rs778904236
|
|
NM_004371.4(COPA):c.2666C>G (p.Pro889Arg)
|
rs2101824120
|
|
NM_004371.4(COPA):c.2680A>G (p.Ile894Val)
|
rs1370641046
|
|
NM_004371.4(COPA):c.2684C>T (p.Ser895Phe)
|
rs1396829399
|
|
NM_004371.4(COPA):c.2686C>T (p.Pro896Ser)
|
|
|
NM_004371.4(COPA):c.2731A>G (p.Thr911Ala)
|
rs1658305088
|
|
NM_004371.4(COPA):c.2749A>C (p.Thr917Pro)
|
rs751116790
|
|
NM_004371.4(COPA):c.2754+5G>A
|
|
|
NM_004371.4(COPA):c.2754G>A (p.Gln918=)
|
|
|
NM_004371.4(COPA):c.2755A>C (p.Ile919Leu)
|
|
|
NM_004371.4(COPA):c.2762G>A (p.Cys921Tyr)
|
|
|
NM_004371.4(COPA):c.2765A>G (p.Asn922Ser)
|
rs1658297298
|
|
NM_004371.4(COPA):c.2773C>G (p.Gln925Glu)
|
|
|
NM_004371.4(COPA):c.2794C>G (p.Leu932Val)
|
|
|
NM_004371.4(COPA):c.2804C>G (p.Ser935Cys)
|
rs1658296082
|
|
NM_004371.4(COPA):c.2821C>T (p.Arg941Trp)
|
|
|
NM_004371.4(COPA):c.2823+3A>G
|
rs778388338
|
|
NM_004371.4(COPA):c.2824C>T (p.Leu942Phe)
|
|
|
NM_004371.4(COPA):c.2894G>T (p.Arg965Leu)
|
|
|
NM_004371.4(COPA):c.2899C>T (p.Arg967Cys)
|
|
|
NM_004371.4(COPA):c.2918T>C (p.Leu973Pro)
|
rs2101821475
|
|
NM_004371.4(COPA):c.2930C>A (p.Pro977His)
|
|
|
NM_004371.4(COPA):c.2930C>T (p.Pro977Leu)
|
|
|
NM_004371.4(COPA):c.2932T>A (p.Ser978Thr)
|
|
|
NM_004371.4(COPA):c.2935A>T (p.Met979Leu)
|
|
|
NM_004371.4(COPA):c.293C>T (p.Thr98Ile)
|
rs2101874699
|
|
NM_004371.4(COPA):c.2953C>T (p.Arg985Cys)
|
|
|
NM_004371.4(COPA):c.2954G>A (p.Arg985His)
|
|
|
NM_004371.4(COPA):c.295A>G (p.Thr99Ala)
|
|
|
NM_004371.4(COPA):c.2974C>G (p.Leu992Val)
|
rs1658261376
|
|
NM_004371.4(COPA):c.2981A>G (p.Asn994Ser)
|
rs1658260963
|
|
NM_004371.4(COPA):c.2983G>A (p.Gly995Ser)
|
rs2101820932
|
|
NM_004371.4(COPA):c.2998G>A (p.Gly1000Ser)
|
|
|
NM_004371.4(COPA):c.3001C>A (p.Leu1001Met)
|
|
|
NM_004371.4(COPA):c.301T>C (p.Phe101Leu)
|
|
|
NM_004371.4(COPA):c.302T>C (p.Phe101Ser)
|
rs2101874685
|
|
NM_004371.4(COPA):c.305A>G (p.His102Arg)
|
rs2101874672
|
|
NM_004371.4(COPA):c.307C>T (p.His103Tyr)
|
|
|
NM_004371.4(COPA):c.309+5G>A
|
|
|
NM_004371.4(COPA):c.309+6T>C
|
|
|
NM_004371.4(COPA):c.3100C>A (p.Leu1034Ile)
|
rs2101820791
|
|
NM_004371.4(COPA):c.3119T>C (p.Val1040Ala)
|
|
|
NM_004371.4(COPA):c.3134_3135del (p.Gln1045fs)
|
|
|
NM_004371.4(COPA):c.3147+4G>A
|
rs1571147652
|
|
NM_004371.4(COPA):c.3148-3C>T
|
|
|
NM_004371.4(COPA):c.3148-9C>A
|
rs1658248308
|
|
NM_004371.4(COPA):c.314A>G (p.Tyr105Cys)
|
|
|
NM_004371.4(COPA):c.3196G>A (p.Val1066Met)
|
|
|
NM_004371.4(COPA):c.3247C>T (p.Arg1083Cys)
|
|
|
NM_004371.4(COPA):c.3248G>A (p.Arg1083His)
|
rs141211632
|
|
NM_004371.4(COPA):c.3258+6A>G
|
|
|
NM_004371.4(COPA):c.3317G>A (p.Arg1106His)
|
|
|
NM_004371.4(COPA):c.3331C>A (p.Leu1111Met)
|
rs181135283
|
|
NM_004371.4(COPA):c.3344T>G (p.Leu1115Arg)
|
|
|
NM_004371.4(COPA):c.3376C>T (p.Arg1126Trp)
|
|
|
NM_004371.4(COPA):c.337G>A (p.Asp113Asn)
|
rs2101873058
|
|
NM_004371.4(COPA):c.3391C>T (p.Leu1131Phe)
|
|
|
NM_004371.4(COPA):c.3394G>A (p.Gly1132Arg)
|
|
|
NM_004371.4(COPA):c.3394G>C (p.Gly1132Arg)
|
|
|
NM_004371.4(COPA):c.3413C>A (p.Ala1138Asp)
|
|
|
NM_004371.4(COPA):c.3421-6C>T
|
rs2101818690
|
|
NM_004371.4(COPA):c.3422C>T (p.Thr1141Ile)
|
rs1389932827
|
|
NM_004371.4(COPA):c.3446A>G (p.Glu1149Gly)
|
|
|
NM_004371.4(COPA):c.3476A>G (p.Asn1159Ser)
|
|
|
NM_004371.4(COPA):c.3512C>T (p.Ala1171Val)
|
rs1189969466
|
|
NM_004371.4(COPA):c.3518A>G (p.Tyr1173Cys)
|
|
|
NM_004371.4(COPA):c.3532C>T (p.Arg1178Cys)
|
|
|
NM_004371.4(COPA):c.3541C>G (p.Pro1181Ala)
|
|
|
NM_004371.4(COPA):c.3552G>T (p.Lys1184Asn)
|
rs1265302722
|
|
NM_004371.4(COPA):c.3615A>G (p.Thr1205=)
|
|
|
NM_004371.4(COPA):c.3652A>G (p.Ile1218Val)
|
|
|
NM_004371.4(COPA):c.3653T>C (p.Ile1218Thr)
|
rs2101817753
|
|
NM_004371.4(COPA):c.3654_3655del (p.Ile1218fs)
|
|
|
NM_004371.4(COPA):c.3664C>T (p.Gln1222Ter)
|
|
|
NM_004371.4(COPA):c.385T>C (p.Cys129Arg)
|
rs1647631957
|
|
NM_004371.4(COPA):c.386+7C>T
|
rs1488664481
|
|
NM_004371.4(COPA):c.402C>A (p.His134Gln)
|
rs1647575840
|
|
NM_004371.4(COPA):c.404A>G (p.Asn135Ser)
|
|
|
NM_004371.4(COPA):c.429C>A (p.Phe143Leu)
|
|
|
NM_004371.4(COPA):c.47G>A (p.Ser16Asn)
|
rs1647979140
|
|
NM_004371.4(COPA):c.496+15T>G
|
|
|
NM_004371.4(COPA):c.518C>T (p.Ser173Phe)
|
|
|
NM_004371.4(COPA):c.519_521del (p.Pro174del)
|
|
|
NM_004371.4(COPA):c.527C>T (p.Ala176Val)
|
|
|
NM_004371.4(COPA):c.531G>A (p.Val177=)
|
rs1659465313
|
|
NM_004371.4(COPA):c.563A>T (p.Asp188Val)
|
rs770815634
|
|
NM_004371.4(COPA):c.617G>A (p.Arg206His)
|
rs934972773
|
|
NM_004371.4(COPA):c.646A>T (p.Thr216Ser)
|
|
|
NM_004371.4(COPA):c.647C>T (p.Thr216Ile)
|
rs2101860231
|
|
NM_004371.4(COPA):c.67T>C (p.Trp23Arg)
|
rs1419799952
|
|
NM_004371.4(COPA):c.680G>A (p.Arg227His)
|
rs1659391902
|
|
NM_004371.4(COPA):c.697C>T (p.Arg233Cys)
|
|
|
NM_004371.4(COPA):c.700A>G (p.Met234Val)
|
rs2101860133
|
|
NM_004371.4(COPA):c.718T>A (p.Trp240Arg)
|
rs1659063174
|
|
NM_004371.4(COPA):c.722A>C (p.Glu241Ala)
|
rs1557868201
|
|
NM_004371.4(COPA):c.725T>A (p.Val242Asp)
|
rs2101847465
|
|
NM_004371.4(COPA):c.728A>G (p.Asp243Gly)
|
rs794727994
|
|
NM_004371.4(COPA):c.731C>T (p.Thr244Ile)
|
|
|
NM_004371.4(COPA):c.744T>A (p.His248Gln)
|
|
|
NM_004371.4(COPA):c.766G>T (p.Val256Phe)
|
|
|
NM_004371.4(COPA):c.772C>T (p.His258Tyr)
|
rs1659060523
|
|
NM_004371.4(COPA):c.790A>G (p.Ile264Val)
|
rs1659059803
|
|
NM_004371.4(COPA):c.817A>G (p.Ile273Val)
|
|
|
NM_004371.4(COPA):c.821G>A (p.Arg274Gln)
|
|
|
NM_004371.4(COPA):c.841C>T (p.Arg281Trp)
|
|
|
NM_004371.4(COPA):c.862C>T (p.Arg288Cys)
|
|
|
NM_004371.4(COPA):c.874G>T (p.Asp292Tyr)
|
rs1659021909
|
|
NM_004371.4(COPA):c.887T>A (p.Val296Asp)
|
rs2101845935
|
|
NM_004371.4(COPA):c.916T>C (p.Phe306Leu)
|
|
|
NM_004371.4(COPA):c.925+2T>C
|
rs1388547930
|
|
NM_004371.4(COPA):c.926-5_926-2dup
|
|
|
NM_004371.4(COPA):c.944T>C (p.Ile315Thr)
|
|
|
NM_004371.4(COPA):c.990C>T (p.Gly330=)
|
rs1658980972
|
|
NM_004371.4(COPA):c.992A>G (p.Asn331Ser)
|
|
|
NM_004371.4(COPA):c.994A>C (p.Met332Leu)
|
|
|
NM_004612.4(TGFBR1):c.*1080A>C
|
rs1461290743
|
|
NM_004612.4(TGFBR1):c.*1159T>G
|
rs1827950323
|
|
NM_004612.4(TGFBR1):c.*1223A>G
|
rs886063229
|
|
NM_004612.4(TGFBR1):c.*1250G>T
|
rs886063230
|
|
NM_004612.4(TGFBR1):c.*1269T>G
|
rs189032587
|
|
NM_004612.4(TGFBR1):c.*1368C>A
|
rs886063231
|
|
NM_004612.4(TGFBR1):c.*1431G>T
|
rs886063232
|
|
NM_004612.4(TGFBR1):c.*1687A>G
|
rs886063233
|
|
NM_004612.4(TGFBR1):c.*1704G>T
|
rs886063234
|
|
NM_004612.4(TGFBR1):c.*1787T>C
|
rs886063235
|
|
NM_004612.4(TGFBR1):c.*1792C>A
|
rs1827968273
|
|
NM_004612.4(TGFBR1):c.*1924G>T
|
rs886063236
|
|
NM_004612.4(TGFBR1):c.*2101T>G
|
rs1827975718
|
|
NM_004612.4(TGFBR1):c.*2101_*2102insGT
|
rs886063239
|
|
NM_004612.4(TGFBR1):c.*2104_*2105insGT
|
rs1554703244
|
|
NM_004612.4(TGFBR1):c.*2105dup
|
rs200529894
|
|
NM_004612.4(TGFBR1):c.*2106G>T
|
rs201054018
|
|
NM_004612.4(TGFBR1):c.*2106GTT[2]
|
rs886063241
|
|
NM_004612.4(TGFBR1):c.*2279T>C
|
rs886063242
|
|
NM_004612.4(TGFBR1):c.*2411G>C
|
rs11568813
|
|
NM_004612.4(TGFBR1):c.*247T>C
|
rs1827918720
|
|
NM_004612.4(TGFBR1):c.*250T>A
|
rs1827918871
|
|
NM_004612.4(TGFBR1):c.*2547A>G
|
rs886063243
|
|
NM_004612.4(TGFBR1):c.*2554A>T
|
rs1827986039
|
|
NM_004612.4(TGFBR1):c.*2634TCT[1]
|
rs886063244
|
|
NM_004612.4(TGFBR1):c.*2713G>T
|
rs886063245
|
|
NM_004612.4(TGFBR1):c.*2768T>A
|
rs886063246
|
|
NM_004612.4(TGFBR1):c.*2980G>T
|
rs886063248
|
|
NM_004612.4(TGFBR1):c.*3095A>G
|
rs1828003249
|
|
NM_004612.4(TGFBR1):c.*309C>T
|
rs886063226
|
|
NM_004612.4(TGFBR1):c.*3317C>G
|
rs201113438
|
|
NM_004612.4(TGFBR1):c.*339G>T
|
rs199861787
|
|
NM_004612.4(TGFBR1):c.*3432G>T
|
rs886063251
|
|
NM_004612.4(TGFBR1):c.*3567G>A
|
rs886063252
|
|
NM_004612.4(TGFBR1):c.*3716T>C
|
rs886063253
|
|
NM_004612.4(TGFBR1):c.*3839A>C
|
rs906560184
|
|
NM_004612.4(TGFBR1):c.*3881G>T
|
rs886063254
|
|
NM_004612.4(TGFBR1):c.*3C>A
|
|
|
NM_004612.4(TGFBR1):c.*4055G>T
|
rs886063255
|
|
NM_004612.4(TGFBR1):c.*4088G>T
|
rs886063256
|
|
NM_004612.4(TGFBR1):c.*408C>T
|
rs941101059
|
|
NM_004612.4(TGFBR1):c.*4278C>T
|
rs200414044
|
|
NM_004612.4(TGFBR1):c.*4445C>G
|
rs202020004
|
|
NM_004612.4(TGFBR1):c.*4467C>A
|
rs886063257
|
|
NM_004612.4(TGFBR1):c.*456G>T
|
rs200245567
|
|
NM_004612.4(TGFBR1):c.*469T>C
|
rs1827927207
|
|
NM_004612.4(TGFBR1):c.*4804dup
|
rs561572489
|
|
NM_004612.4(TGFBR1):c.*502T>G
|
rs201269197
|
|
NM_004612.4(TGFBR1):c.*512_*516del
|
rs777186940
|
|
NM_004612.4(TGFBR1):c.*709C>T
|
rs886063228
|
|
NM_004612.4(TGFBR1):c.*756C>A
|
rs200926268
|
|
NM_004612.4(TGFBR1):c.-43C>A
|
rs886063219
|
|
NM_004612.4(TGFBR1):c.-56G>A
|
rs1826365648
|
|
NM_004612.4(TGFBR1):c.1000T>G (p.Leu334Val)
|
|
|
NM_004612.4(TGFBR1):c.1017C>G (p.Ile339Met)
|
|
|
NM_004612.4(TGFBR1):c.1019del (p.Leu340fs)
|
|
|
NM_004612.4(TGFBR1):c.1046T>C (p.Ile349Thr)
|
|
|
NM_004612.4(TGFBR1):c.1065A>G (p.Ala355=)
|
rs758280185
|
|
NM_004612.4(TGFBR1):c.1073A>G (p.His358Arg)
|
|
|
NM_004612.4(TGFBR1):c.1131-11A>T
|
|
|
NM_004612.4(TGFBR1):c.1133A>G (p.Tyr378Cys)
|
rs2118826506
|
|
NM_004612.4(TGFBR1):c.117C>T (p.His39=)
|
|
|
NM_004612.4(TGFBR1):c.1196C>G (p.Ala399Gly)
|
rs1827802075
|
|
NM_004612.4(TGFBR1):c.1201A>G (p.Ile401Val)
|
|
|
NM_004612.4(TGFBR1):c.1208C>G (p.Ala403Gly)
|
|
|
NM_004612.4(TGFBR1):c.1216T>A (p.Leu406Ile)
|
rs200062984
|
|
NM_004612.4(TGFBR1):c.1222T>A (p.Phe408Ile)
|
rs1827803560
|
|
NM_004612.4(TGFBR1):c.1224C>G (p.Phe408Leu)
|
|
|
NM_004612.4(TGFBR1):c.122_123del (p.Cys41fs)
|
|
|
NM_004612.4(TGFBR1):c.1238G>A (p.Arg413Gln)
|
|
|
NM_004612.4(TGFBR1):c.1241G>A (p.Arg414Gln)
|
|
|
NM_004612.4(TGFBR1):c.1249A>T (p.Ile417Phe)
|
|
|
NM_004612.4(TGFBR1):c.1253G>C (p.Gly418Ala)
|
|
|
NM_004612.4(TGFBR1):c.1255+7del
|
|
|
NM_004612.4(TGFBR1):c.1256-3C>A
|
rs755431191
|
|
NM_004612.4(TGFBR1):c.1283A>G (p.Tyr428Cys)
|
|
|
NM_004612.4(TGFBR1):c.1310C>T (p.Ser437Leu)
|
rs1827842067
|
|
NM_004612.4(TGFBR1):c.1360A>G (p.Ile454Val)
|
rs1827845172
|
|
NM_004612.4(TGFBR1):c.1382G>A (p.Cys461Tyr)
|
|
|
NM_004612.4(TGFBR1):c.1387-4G>A
|
rs397517031
|
|
NM_004612.4(TGFBR1):c.1399A>G (p.Met467Val)
|
|
|
NM_004612.4(TGFBR1):c.1424G>C (p.Trp475Ser)
|
|
|
NM_004612.4(TGFBR1):c.1426T>A (p.Tyr476Asn)
|
|
|
NM_004612.4(TGFBR1):c.1438G>A (p.Ala480Thr)
|
|
|
NM_004612.4(TGFBR1):c.1442C>T (p.Ala481Val)
|
|
|
NM_004612.4(TGFBR1):c.1443T>A (p.Ala481=)
|
rs886063225
|
|
NM_004612.4(TGFBR1):c.1451C>G (p.Thr484Arg)
|
|
|
NM_004612.4(TGFBR1):c.1475_1477del (p.Leu492del)
|
|
|
NM_004612.4(TGFBR1):c.1488T>A (p.Ser496Arg)
|
|
|
NM_004612.4(TGFBR1):c.180G>C (p.Glu60Asp)
|
rs1171355842
|
|
NM_004612.4(TGFBR1):c.191A>G (p.Lys64Arg)
|
rs886042300
|
|
NM_004612.4(TGFBR1):c.193G>A (p.Val65Ile)
|
rs1827124531
|
|
NM_004612.4(TGFBR1):c.239G>A (p.Arg80Gln)
|
rs1368326650
|
|
NM_004612.4(TGFBR1):c.283G>A (p.Val95Met)
|
rs1827129569
|
|
NM_004612.4(TGFBR1):c.296A>G (p.Tyr99Cys)
|
rs1360080681
|
|
NM_004612.4(TGFBR1):c.305A>G (p.Asn102Ser)
|
|
|
NM_004612.4(TGFBR1):c.308A>G (p.Gln103Arg)
|
|
|
NM_004612.4(TGFBR1):c.313dup (p.His105fs)
|
|
|
NM_004612.4(TGFBR1):c.324A>C (p.Lys108Asn)
|
|
|
NM_004612.4(TGFBR1):c.331C>G (p.Leu111Val)
|
rs1244225435
|
|
NM_004612.4(TGFBR1):c.344-15G>A
|
|
|
NM_004612.4(TGFBR1):c.344-74del
|
rs193922675
|
|
NM_004612.4(TGFBR1):c.363_364insTCA (p.Leu121_Gly122insSer)
|
rs2118625345
|
|
NM_004612.4(TGFBR1):c.367C>G (p.Pro123Ala)
|
|
|
NM_004612.4(TGFBR1):c.397C>T (p.Pro133Ser)
|
|
|
NM_004612.4(TGFBR1):c.398C>T (p.Pro133Leu)
|
rs1827269407
|
|
NM_004612.4(TGFBR1):c.409G>A (p.Val137Ile)
|
rs745576967
|
|
NM_004612.4(TGFBR1):c.41T>C (p.Leu14Pro)
|
rs1826371375
|
|
NM_004612.4(TGFBR1):c.421C>T (p.Leu141Phe)
|
|
|
NM_004612.4(TGFBR1):c.463C>T (p.His155Tyr)
|
|
|
NM_004612.4(TGFBR1):c.470G>A (p.Arg157Gln)
|
rs147146713
|
|
NM_004612.4(TGFBR1):c.490C>T (p.Pro164Ser)
|
rs886063222
|
|
NM_004612.4(TGFBR1):c.500A>C (p.Asp167Ala)
|
rs1060502044
|
|
NM_004612.4(TGFBR1):c.52GCG[13] (p.Ala23_Ala26dup)
|
rs11466445
|
|
NM_004612.4(TGFBR1):c.52GCG[3] (p.Ala21_Ala26del)
|
rs11466445
|
|
NM_004612.4(TGFBR1):c.52GCG[6] (p.Ala24_Ala26del)
|
rs11466445
|
|
NM_004612.4(TGFBR1):c.551T>C (p.Met184Thr)
|
|
|
NM_004612.4(TGFBR1):c.569G>T (p.Gly190Val)
|
rs2118632040
|
|
NM_004612.4(TGFBR1):c.575-4_575-3dup
|
|
|
NM_004612.4(TGFBR1):c.582A>G (p.Pro194=)
|
rs200679996
|
|
NM_004612.4(TGFBR1):c.592C>G (p.Gln198Glu)
|
|
|
NM_004612.4(TGFBR1):c.611C>T (p.Thr204Ile)
|
rs886039068
|
|
NM_004612.4(TGFBR1):c.655G>T (p.Val219Phe)
|
rs863223810
|
|
NM_004612.4(TGFBR1):c.680A>C (p.Glu227Ala)
|
|
|
NM_004612.4(TGFBR1):c.691G>A (p.Val231Ile)
|
|
|
NM_004612.4(TGFBR1):c.701T>G (p.Phe234Cys)
|
|
|
NM_004612.4(TGFBR1):c.730C>G (p.Arg244Gly)
|
|
|
NM_004612.4(TGFBR1):c.730C>T (p.Arg244Cys)
|
rs2118718530
|
|
NM_004612.4(TGFBR1):c.734A>C (p.Glu245Ala)
|
rs1554700650
|
|
NM_004612.4(TGFBR1):c.760T>G (p.Leu254Val)
|
|
|
NM_004612.4(TGFBR1):c.763C>T (p.Arg255Cys)
|
rs1588585570
|
|
NM_004612.4(TGFBR1):c.805+5_805+6del
|
rs2118724763
|
|
NM_004612.4(TGFBR1):c.805+5del
|
rs1300823570
|
|
NM_004612.4(TGFBR1):c.806-14A>G
|
|
|
NM_004612.4(TGFBR1):c.808A>G (p.Asn270Asp)
|
|
|
NM_004612.4(TGFBR1):c.809A>G (p.Asn270Ser)
|
rs201475375
|
|
NM_004612.4(TGFBR1):c.828C>G (p.Leu276=)
|
rs886063224
|
|
NM_004612.4(TGFBR1):c.835G>C (p.Val279Leu)
|
rs112300506
|
|
NM_004612.4(TGFBR1):c.847_849del (p.His283del)
|
rs1588590301
|
|
NM_004612.4(TGFBR1):c.848A>G (p.His283Arg)
|
rs1064796037
|
|
NM_004612.4(TGFBR1):c.848A>T (p.His283Leu)
|
|
|
NM_004612.4(TGFBR1):c.854A>G (p.His285Arg)
|
rs1588590331
|
|
NM_004612.4(TGFBR1):c.872A>G (p.Tyr291Cys)
|
|
|
NM_004612.4(TGFBR1):c.886A>G (p.Thr296Ala)
|
|
|
NM_004612.4(TGFBR1):c.892A>C (p.Thr298Pro)
|
|
|
NM_004612.4(TGFBR1):c.896T>C (p.Val299Ala)
|
|
|
NM_004612.4(TGFBR1):c.899A>G (p.Glu300Gly)
|
rs2118779242
|
|
NM_004612.4(TGFBR1):c.940G>T (p.Ala314Ser)
|
rs1209722877
|
|
NM_004612.4(TGFBR1):c.957G>T (p.Glu319Asp)
|
rs2118780957
|
|
NM_004612.4(TGFBR1):c.961G>T (p.Val321Phe)
|
rs1827655038
|
|
NM_004612.4(TGFBR1):c.97+15GGCG[4]
|
rs886063221
|
|
NM_004612.4(TGFBR1):c.98-1G>A
|
|
|
NM_004612.4(TGFBR1):c.98C>T (p.Ala33Val)
|
rs1554698880
|
|
NM_004612.4(TGFBR1):c.993T>C (p.His331=)
|
|
|
NM_004612.4(TGFBR1):c.994A>G (p.Arg332Gly)
|
rs2118804018
|
|
NM_004716.4(PCSK7):c.1634A>C (p.Lys545Thr)
|
rs771986131
|
|
NM_004752.4(GCM2):c.1003C>T (p.Pro335Ser)
|
|
|
NM_004752.4(GCM2):c.1166T>C (p.Val389Ala)
|
|
|
NM_004752.4(GCM2):c.1398G>C (p.Glu466Asp)
|
rs537546612
|
|
NM_004752.4(GCM2):c.139C>T (p.Arg47Cys)
|
|
|
NM_004752.4(GCM2):c.307C>T (p.Pro103Ser)
|
rs1561672362
|
|
NM_004752.4(GCM2):c.523A>T (p.Ile175Phe)
|
|
|
NM_004836.7(EIF2AK3):c.1887-9C>G
|
rs2104414509
|
|
NM_004895.4(NLRP3):c.*324_*327delGTCT
|
rs886506882
|
|
NM_004895.4(NLRP3):c.*328_*331delAACT
|
rs1057515460
|
|
NM_004895.4(NLRP3):c.*378A>C
|
rs1664772078
|
|
NM_004944.4(DNASE1L3):c.112G>A (p.Asp38Asn)
|
rs148208826
|
|
NM_004944.4(DNASE1L3):c.112G>C (p.Asp38His)
|
rs148208826
|
|
NM_004944.4(DNASE1L3):c.179T>G (p.Ile60Ser)
|
rs2097405348
|
|
NM_004944.4(DNASE1L3):c.307G>C (p.Ala103Pro)
|
|
|
NM_004944.4(DNASE1L3):c.384T>A (p.Asp128Glu)
|
rs374838291
|
|
NM_004944.4(DNASE1L3):c.424C>A (p.Pro142Thr)
|
rs563166164
|
|
NM_004944.4(DNASE1L3):c.563G>C (p.Gly188Ala)
|
rs1313460433
|
|
NM_004944.4(DNASE1L3):c.729C>G (p.Ile243Met)
|
rs76440799
|
|
NM_004944.4(DNASE1L3):c.7C>G (p.Arg3Gly)
|
rs202183427
|
|
NM_004972.4(JAK2):c.1619_1627del (p.Ile540_Glu543delinsLys)
|
|
|
NM_004972.4(JAK2):c.1694G>C (p.Arg565Thr)
|
rs2130546358
|
|
NM_004985.5(KRAS):c.388_389delinsAT (p.Ala130Ile)
|
rs1951383854
|
|
NM_005085.4(NUP214):c.199CTT[1] (p.Leu68del)
|
rs1302128286
|
|
NM_005188.4(CBL):c.-125_-116delinsT
|
rs886047763
|
|
NM_005188.4(CBL):c.1163A>G (p.Asp388Gly)
|
rs2135303762
|
|
NM_005188.4(CBL):c.1202G>T (p.Cys401Phe)
|
rs1357686410
|
|
NM_005188.4(CBL):c.1243G>A (p.Gly415Ser)
|
rs756530482
|
|
NM_005188.4(CBL):c.1253T>C (p.Phe418Ser)
|
rs772156285
|
|
NM_005188.4(CBL):c.1298C>A (p.Pro433Gln)
|
rs140627020
|
|
NM_005188.4(CBL):c.1618C>T (p.Arg540Ter)
|
rs764340189
|
|
NM_005188.4(CBL):c.1619G>A (p.Arg540Gln)
|
rs980503623
|
|
NM_005188.4(CBL):c.1676G>A (p.Arg559Gln)
|
rs143034856
|
|
NM_005188.4(CBL):c.1850G>T (p.Arg617Leu)
|
rs780457588
|
|
NM_005188.4(CBL):c.2050C>T (p.Pro684Ser)
|
rs587778154
|
|
NM_005188.4(CBL):c.2393CCT[1] (p.Ser799del)
|
rs755938138
|
|
NM_005188.4(CBL):c.2435-1_2435del
|
rs749424087
|
|
NM_005188.4(CBL):c.2502A>T (p.Glu834Asp)
|
rs1950085952
|
|
NM_005188.4(CBL):c.2519G>A (p.Cys840Tyr)
|
rs376536789
|
|
NM_005188.4(CBL):c.2654T>C (p.Ile885Thr)
|
|
|
NM_005188.4(CBL):c.434C>G (p.Ser145Cys)
|
|
|
NM_005223.4(DNASE1):c.385G>A (p.Asp129Asn)
|
|
|
NM_005223.4(DNASE1):c.398G>A (p.Arg133Gln)
|
|
|
NM_005228.5(EGFR):c.676A>C (p.Lys226Gln)
|
rs2128933753
|
|
NM_005373.3(MPL):c.1012G>C (p.Glu338Gln)
|
|
|
NM_005373.3(MPL):c.1025C>A (p.Pro342Gln)
|
|
|
NM_005373.3(MPL):c.1043A>G (p.Gln348Arg)
|
|
|
NM_005373.3(MPL):c.1057C>T (p.His353Tyr)
|
|
|
NM_005373.3(MPL):c.1079G>T (p.Ser360Ile)
|
|
|
NM_005373.3(MPL):c.10T>C (p.Trp4Arg)
|
|
|
NM_005373.3(MPL):c.1162_1163delinsTA (p.Ala388Tyr)
|
|
|
NM_005373.3(MPL):c.1168C>T (p.Arg390Cys)
|
|
|
NM_005373.3(MPL):c.1249G>A (p.Ala417Thr)
|
|
|
NM_005373.3(MPL):c.1258G>C (p.Glu420Gln)
|
|
|
NM_005373.3(MPL):c.1319C>G (p.Pro440Arg)
|
|
|
NM_005373.3(MPL):c.136G>A (p.Glu46Lys)
|
|
|
NM_005373.3(MPL):c.136G>C (p.Glu46Gln)
|
|
|
NM_005373.3(MPL):c.1468+7C>T
|
|
|
NM_005373.3(MPL):c.1473G>C (p.Trp491Cys)
|
rs121913613
|
|
NM_005373.3(MPL):c.1528CTG[5] (p.Leu513_Arg514insLeu)
|
|
|
NM_005373.3(MPL):c.1541G>A (p.Arg514Lys)
|
rs1647078220
|
|
NM_005373.3(MPL):c.1542G>T (p.Arg514Ser)
|
|
|
NM_005373.3(MPL):c.1543_1544delinsGC (p.Trp515Ala)
|
|
|
NM_005373.3(MPL):c.1544G>C (p.Trp515Ser)
|
|
|
NM_005373.3(MPL):c.1567A>G (p.Arg523Gly)
|
|
|
NM_005373.3(MPL):c.1612G>C (p.Val538Leu)
|
|
|
NM_005373.3(MPL):c.1618G>A (p.Gly540Ser)
|
|
|
NM_005373.3(MPL):c.1643C>A (p.Ala548Asp)
|
|
|
NM_005373.3(MPL):c.1653G>A (p.Pro551=)
|
|
|
NM_005373.3(MPL):c.1669T>G (p.Ser557Ala)
|
|
|
NM_005373.3(MPL):c.1707A>T (p.Glu569Asp)
|
|
|
NM_005373.3(MPL):c.1717A>G (p.Lys573Glu)
|
|
|
NM_005373.3(MPL):c.1721C>T (p.Ser574Phe)
|
|
|
NM_005373.3(MPL):c.1739T>C (p.Leu580Ser)
|
|
|
NM_005373.3(MPL):c.1744C>G (p.Leu582Val)
|
rs2153920065
|
|
NM_005373.3(MPL):c.1766T>C (p.Met589Thr)
|
|
|
NM_005373.3(MPL):c.1810_1811del (p.Leu604fs)
|
|
|
NM_005373.3(MPL):c.1897C>T (p.Gln633Ter)
|
|
|
NM_005373.3(MPL):c.206A>G (p.Tyr69Cys)
|
|
|
NM_005373.3(MPL):c.224G>A (p.Arg75His)
|
|
|
NM_005373.3(MPL):c.338A>T (p.Asn113Ile)
|
|
|
NM_005373.3(MPL):c.358C>T (p.Arg120Trp)
|
|
|
NM_005373.3(MPL):c.368G>A (p.Arg123Gln)
|
|
|
NM_005373.3(MPL):c.404C>G (p.Pro135Arg)
|
|
|
NM_005373.3(MPL):c.417C>T (p.Ile139=)
|
|
|
NM_005373.3(MPL):c.445G>A (p.Glu149Lys)
|
rs267598615
|
|
NM_005373.3(MPL):c.502G>A (p.Glu168Lys)
|
|
|
NM_005373.3(MPL):c.517C>G (p.Pro173Ala)
|
|
|
NM_005373.3(MPL):c.530A>C (p.Lys177Thr)
|
|
|
NM_005373.3(MPL):c.535T>C (p.Ser179Pro)
|
|
|
NM_005373.3(MPL):c.556C>A (p.Gln186Lys)
|
|
|
NM_005373.3(MPL):c.556C>G (p.Gln186Glu)
|
|
|
NM_005373.3(MPL):c.593A>G (p.Gln198Arg)
|
|
|
NM_005373.3(MPL):c.613G>A (p.Ala205Thr)
|
|
|
NM_005373.3(MPL):c.632G>A (p.Cys211Tyr)
|
|
|
NM_005373.3(MPL):c.709G>A (p.Glu237Lys)
|
|
|
NM_005373.3(MPL):c.844G>A (p.Gly282Arg)
|
rs878854770
|
|
NM_005373.3(MPL):c.89T>C (p.Leu30Ser)
|
|
|
NM_005373.3(MPL):c.923A>T (p.His308Leu)
|
|
|
NM_005373.3(MPL):c.94G>A (p.Ala32Thr)
|
|
|
NM_005373.3(MPL):c.956G>A (p.Arg319Lys)
|
|
|
NM_005373.3(MPL):c.961C>T (p.Arg321Trp)
|
|
|
NM_005373.3(MPL):c.981-8G>A
|
|
|
NM_005373.3(MPL):c.988A>T (p.Ile330Phe)
|
rs1647056598
|
|
NM_005430.4(WNT1):c.726G>A (p.Val242=)
|
rs1324762785
|
|
NM_005475.3(SH2B3):c.1325A>C (p.Gln442Pro)
|
|
|
NM_005475.3(SH2B3):c.89G>A (p.Cys30Tyr)
|
|
|
NM_005529.7(HSPG2):c.12361C>G (p.Pro4121Ala)
|
rs1316660217
|
|
NM_005529.7(HSPG2):c.12532+4C>T
|
rs762689360
|
|
NM_005529.7(HSPG2):c.1371C>T (p.Ser457=)
|
rs770532300
|
|
NM_005529.7(HSPG2):c.8301C>T (p.Leu2767=)
|
rs2152711496
|
|
NM_005529.7(HSPG2):c.8787C>T (p.Ile2929=)
|
rs765768172
|
|
NM_005546.4(ITK):c.1588T>G (p.Phe530Val)
|
rs2113776036
|
|
NM_005546.4(ITK):c.439G>A (p.Asp147Asn)
|
rs1463419892
|
|
NM_005585.5(SMAD6):c.42G>A (p.Trp14Ter)
|
rs1246889300
|
|
NM_005634.3(SOX3):c.735_737dup (p.Ala248dup)
|
rs398124211
|
|
NM_005807.6(PRG4):c.2247del (p.Ala750fs)
|
rs1656851989
|
|
NM_005807.6(PRG4):c.308T>C (p.Phe103Ser)
|
|
|
NM_005807.6(PRG4):c.3636G>T (p.Lys1212Asn)
|
rs1657192119
|
|
NM_005896.4(IDH1):c.839C>T (p.Ser280Phe)
|
rs757389021
|
|
NM_005901.6(SMAD2):c.1384C>T (p.Arg462Cys)
|
rs2144276135
|
|
NM_005901.6(SMAD2):c.998G>A (p.Gly333Glu)
|
|
|
NM_005902.4(SMAD3):c.*1326A>G
|
rs886051392
|
|
NM_005902.4(SMAD3):c.*1355C>G
|
rs886051393
|
|
NM_005902.4(SMAD3):c.*1443C>A
|
rs886051394
|
|
NM_005902.4(SMAD3):c.*1493C>A
|
rs886051395
|
|
NM_005902.4(SMAD3):c.*1515C>A
|
rs886051396
|
|
NM_005902.4(SMAD3):c.*1548G>T
|
rs886051397
|
|
NM_005902.4(SMAD3):c.*1597G>C
|
rs886051398
|
|
NM_005902.4(SMAD3):c.*1614C>A
|
rs886051399
|
|
NM_005902.4(SMAD3):c.*1641T>G
|
rs886051400
|
|
NM_005902.4(SMAD3):c.*1644T>G
|
rs886051401
|
|
NM_005902.4(SMAD3):c.*1695G>T
|
rs886051402
|
|
NM_005902.4(SMAD3):c.*1749G>T
|
rs886051403
|
|
NM_005902.4(SMAD3):c.*1767G>C
|
rs533635017
|
|
NM_005902.4(SMAD3):c.*1784G>T
|
rs886051404
|
|
NM_005902.4(SMAD3):c.*1790G>A
|
rs530788405
|
|
NM_005902.4(SMAD3):c.*1800_*1803del
|
rs141408841
|
|
NM_005902.4(SMAD3):c.*1820G>T
|
rs886051407
|
|
NM_005902.4(SMAD3):c.*1831G>T
|
rs886051408
|
|
NM_005902.4(SMAD3):c.*1853C>A
|
rs886051409
|
|
NM_005902.4(SMAD3):c.*1915G>A
|
rs961459942
|
|
NM_005902.4(SMAD3):c.*195G>T
|
rs886051381
|
|
NM_005902.4(SMAD3):c.*2026T>C
|
rs886051410
|
|
NM_005902.4(SMAD3):c.*2038G>T
|
rs886051411
|
|
NM_005902.4(SMAD3):c.*2245C>A
|
rs886051412
|
|
NM_005902.4(SMAD3):c.*2251C>A
|
rs886051413
|
|
NM_005902.4(SMAD3):c.*2291C>A
|
rs886051414
|
|
NM_005902.4(SMAD3):c.*2303G>C
|
rs886051415
|
|
NM_005902.4(SMAD3):c.*2453C>A
|
rs886051416
|
|
NM_005902.4(SMAD3):c.*2476A>C
|
rs886051417
|
|
NM_005902.4(SMAD3):c.*2573G>T
|
rs886051418
|
|
NM_005902.4(SMAD3):c.*2580C>A
|
rs886051419
|
|
NM_005902.4(SMAD3):c.*2596G>T
|
rs886051420
|
|
NM_005902.4(SMAD3):c.*2891C>A
|
rs886051421
|
|
NM_005902.4(SMAD3):c.*292G>T
|
rs886051382
|
|
NM_005902.4(SMAD3):c.*2963A>C
|
rs886051422
|
|
NM_005902.4(SMAD3):c.*304C>T
|
rs565932125
|
|
NM_005902.4(SMAD3):c.*30C>T
|
rs201206131
|
|
NM_005902.4(SMAD3):c.*3120G>T
|
rs886051423
|
|
NM_005902.4(SMAD3):c.*3147G>T
|
rs886051425
|
|
NM_005902.4(SMAD3):c.*3148T>C
|
rs886051426
|
|
NM_005902.4(SMAD3):c.*3174del
|
rs886051427
|
|
NM_005902.4(SMAD3):c.*3174dup
|
rs886051427
|
|
NM_005902.4(SMAD3):c.*3661G>A
|
rs886051430
|
|
NM_005902.4(SMAD3):c.*3738C>T
|
rs886051432
|
|
NM_005902.4(SMAD3):c.*4195G>A
|
rs886051433
|
|
NM_005902.4(SMAD3):c.*4556C>A
|
rs886051435
|
|
NM_005902.4(SMAD3):c.*4556C>T
|
rs886051435
|
|
NM_005902.4(SMAD3):c.*495C>A
|
rs886051383
|
|
NM_005902.4(SMAD3):c.*552G>T
|
rs769408016
|
|
NM_005902.4(SMAD3):c.*573G>T
|
rs886051384
|
|
NM_005902.4(SMAD3):c.*594C>T
|
rs1963353753
|
|
NM_005902.4(SMAD3):c.*632C>A
|
rs886051386
|
|
NM_005902.4(SMAD3):c.*656C>A
|
rs886051387
|
|
NM_005902.4(SMAD3):c.*678C>A
|
rs886051388
|
|
NM_005902.4(SMAD3):c.*937T>C
|
rs1272484755
|
|
NM_005902.4(SMAD3):c.*981C>A
|
rs886051390
|
|
NM_005902.4(SMAD3):c.-100C>T
|
rs886051379
|
|
NM_005902.4(SMAD3):c.-139C>G
|
rs1595881947
|
|
NM_005902.4(SMAD3):c.-164A>C
|
rs886051378
|
|
NM_005902.4(SMAD3):c.-168C>A
|
rs886051377
|
|
NM_005902.4(SMAD3):c.-217C>T
|
rs886051376
|
|
NM_005902.4(SMAD3):c.-240G>T
|
rs886051375
|
|
NM_005902.4(SMAD3):c.-280C>A
|
rs886051372
|
|
NM_005902.4(SMAD3):c.-38C>T
|
rs909267391
|
|
NM_005902.4(SMAD3):c.-5C>A
|
|
|
NM_005902.4(SMAD3):c.-5C>T
|
|
|
NM_005902.4(SMAD3):c.-5del
|
|
|
NM_005902.4(SMAD3):c.100G>A (p.Ala34Thr)
|
rs2140188906
|
|
NM_005902.4(SMAD3):c.1040A>C (p.Glu347Ala)
|
|
|
NM_005902.4(SMAD3):c.1050C>T (p.Ala350=)
|
|
|
NM_005902.4(SMAD3):c.1064C>T (p.Ser355Leu)
|
rs752776110
|
|
NM_005902.4(SMAD3):c.1103G>A (p.Arg368Gln)
|
|
|
NM_005902.4(SMAD3):c.110G>A (p.Ser37Asn)
|
|
|
NM_005902.4(SMAD3):c.1117C>T (p.Arg373Cys)
|
rs863223746
|
|
NM_005902.4(SMAD3):c.1118G>A (p.Arg373His)
|
rs1060500766
|
|
NM_005902.4(SMAD3):c.1151A>G (p.Tyr384Cys)
|
rs2140323808
|
|
NM_005902.4(SMAD3):c.1154+3C>A
|
|
|
NM_005902.4(SMAD3):c.1157G>C (p.Arg386Thr)
|
rs1567005489
|
|
NM_005902.4(SMAD3):c.1180T>C (p.Cys394Arg)
|
|
|
NM_005902.4(SMAD3):c.1199T>C (p.Leu400Pro)
|
|
|
NM_005902.4(SMAD3):c.1211T>C (p.Leu404Ser)
|
rs1555414491
|
|
NM_005902.4(SMAD3):c.1259G>A (p.Arg420His)
|
rs762012589
|
|
NM_005902.4(SMAD3):c.12C>T (p.Ile4=)
|
rs1595882053
|
|
NM_005902.4(SMAD3):c.155A>G (p.Glu52Gly)
|
|
|
NM_005902.4(SMAD3):c.164T>G (p.Ile55Ser)
|
|
|
NM_005902.4(SMAD3):c.169A>C (p.Thr57Pro)
|
rs730880213
|
|
NM_005902.4(SMAD3):c.170C>A (p.Thr57Lys)
|
rs1959915488
|
|
NM_005902.4(SMAD3):c.170C>G (p.Thr57Arg)
|
|
|
NM_005902.4(SMAD3):c.187A>G (p.Lys63Glu)
|
|
|
NM_005902.4(SMAD3):c.206+4G>T
|
|
|
NM_005902.4(SMAD3):c.207-26806G>T
|
|
|
NM_005902.4(SMAD3):c.228G>T (p.Gln76His)
|
rs886041046
|
|
NM_005902.4(SMAD3):c.238C>T (p.Arg80Trp)
|
rs750707381
|
|
NM_005902.4(SMAD3):c.25C>T (p.Pro9Ser)
|
|
|
NM_005902.4(SMAD3):c.269G>A (p.Arg90His)
|
rs886038803
|
|
NM_005902.4(SMAD3):c.269G>T (p.Arg90Leu)
|
|
|
NM_005902.4(SMAD3):c.278G>A (p.Arg93Gln)
|
rs863223765
|
|
NM_005902.4(SMAD3):c.281G>T (p.Trp94Leu)
|
rs1057518977
|
|
NM_005902.4(SMAD3):c.284C>T (p.Pro95Leu)
|
rs1962536528
|
|
NM_005902.4(SMAD3):c.295A>G (p.Ser99Gly)
|
|
|
NM_005902.4(SMAD3):c.304G>A (p.Glu102Lys)
|
rs1962537574
|
|
NM_005902.4(SMAD3):c.30G>T (p.Pro10=)
|
|
|
NM_005902.4(SMAD3):c.317T>C (p.Met106Thr)
|
rs1301737199
|
|
NM_005902.4(SMAD3):c.322C>A (p.Leu108Met)
|
rs1595941782
|
|
NM_005902.4(SMAD3):c.323T>G (p.Leu108Arg)
|
rs1962538901
|
|
NM_005902.4(SMAD3):c.335C>A (p.Ala112Asp)
|
|
|
NM_005902.4(SMAD3):c.344T>C (p.Met115Thr)
|
|
|
NM_005902.4(SMAD3):c.380A>G (p.Tyr127Cys)
|
|
|
NM_005902.4(SMAD3):c.398C>G (p.Pro133Arg)
|
rs2140294309
|
|
NM_005902.4(SMAD3):c.401-6G>C
|
|
|
NM_005902.4(SMAD3):c.448T>C (p.Phe150Leu)
|
rs751860407
|
|
NM_005902.4(SMAD3):c.455C>T (p.Pro152Leu)
|
|
|
NM_005902.4(SMAD3):c.46C>G (p.Leu16Val)
|
rs2140188791
|
|
NM_005902.4(SMAD3):c.484G>A (p.Glu162Lys)
|
|
|
NM_005902.4(SMAD3):c.490A>T (p.Thr164Ser)
|
rs1254152984
|
|
NM_005902.4(SMAD3):c.506G>A (p.Gly169Asp)
|
|
|
NM_005902.4(SMAD3):c.529C>T (p.Pro177Ser)
|
|
|
NM_005902.4(SMAD3):c.533-10T>C
|
|
|
NM_005902.4(SMAD3):c.541C>T (p.Pro181Ser)
|
|
|
NM_005902.4(SMAD3):c.544C>T (p.Pro182Ser)
|
|
|
NM_005902.4(SMAD3):c.590A>C (p.Asn197Thr)
|
|
|
NM_005902.4(SMAD3):c.602A>G (p.Asp201Gly)
|
rs1416321033
|
|
NM_005902.4(SMAD3):c.608G>A (p.Gly203Asp)
|
rs1962720069
|
|
NM_005902.4(SMAD3):c.614C>T (p.Pro205Leu)
|
|
|
NM_005902.4(SMAD3):c.660C>A (p.Asp220Glu)
|
|
|
NM_005902.4(SMAD3):c.663_664insGGA (p.Leu221_Gln222insGly)
|
|
|
NM_005902.4(SMAD3):c.665_666insCAGTTACCTACTGCG (p.Gln222delinsHisSerTyrLeuLeuArg)
|
|
|
NM_005902.4(SMAD3):c.68A>G (p.Gln23Arg)
|
|
|
NM_005902.4(SMAD3):c.701C>T (p.Ser234Phe)
|
rs2140313919
|
|
NM_005902.4(SMAD3):c.727C>T (p.Arg243Cys)
|
rs886039137
|
|
NM_005902.4(SMAD3):c.739A>T (p.Thr247Ser)
|
|
|
NM_005902.4(SMAD3):c.748G>A (p.Ala250Thr)
|
|
|
NM_005902.4(SMAD3):c.787C>T (p.Pro263Ser)
|
rs863223739
|
|
NM_005902.4(SMAD3):c.807C>A (p.Phe269Leu)
|
|
|
NM_005902.4(SMAD3):c.821T>A (p.Leu274His)
|
|
|
NM_005902.4(SMAD3):c.827A>G (p.Asn276Ser)
|
|
|
NM_005902.4(SMAD3):c.839A>G (p.Asn280Ser)
|
rs1433790279
|
|
NM_005902.4(SMAD3):c.860G>A (p.Arg287Gln)
|
rs730880214
|
|
NM_005902.4(SMAD3):c.860G>T (p.Arg287Leu)
|
|
|
NM_005902.4(SMAD3):c.872G>T (p.Gly291Val)
|
rs1555413991
|
|
NM_005902.4(SMAD3):c.897C>G (p.Ile299Met)
|
|
|
NM_005902.4(SMAD3):c.900_902dup (p.Gly301_Glu302insGly)
|
|
|
NM_005902.4(SMAD3):c.908T>A (p.Val303Asp)
|
rs1555414011
|
|
NM_005902.4(SMAD3):c.920G>A (p.Cys307Tyr)
|
|
|
NM_005902.4(SMAD3):c.922C>T (p.Leu308Phe)
|
rs764656928
|
|
NM_005902.4(SMAD3):c.929A>G (p.Asp310Gly)
|
|
|
NM_005902.4(SMAD3):c.934G>A (p.Ala312Thr)
|
rs750756638
|
|
NM_005902.4(SMAD3):c.967C>T (p.Arg323Cys)
|
rs967072552
|
|
NM_005902.4(SMAD3):c.96G>C (p.Glu32Asp)
|
rs1450927153
|
|
NM_005902.4(SMAD3):c.983C>T (p.Pro328Leu)
|
|
|
NM_006060.6(IKZF1):c.1474T>G (p.Cys492Gly)
|
|
|
NM_006182.4(DDR2):c.2454C>G (p.Ala818=)
|
rs1236758438
|
|
NM_006258.4(PRKG1):c.298C>T (p.Pro100Ser)
|
rs1554833919
|
|
NM_006258.4(PRKG1):c.389T>C (p.Ile130Thr)
|
rs771121101
|
|
NM_006397.3(RNASEH2A):c.*69G>A
|
rs969808573
|
|
NM_006397.3(RNASEH2A):c.*93A>G
|
rs528209678
|
|
NM_006397.3(RNASEH2A):c.-69G>A
|
rs1968991813
|
|
NM_006397.3(RNASEH2A):c.113G>A (p.Arg38Lys)
|
rs2145824177
|
|
NM_006397.3(RNASEH2A):c.115_116delinsCA (p.Gly39His)
|
rs1968997110
|
|
NM_006397.3(RNASEH2A):c.119C>T (p.Pro40Leu)
|
rs2145824200
|
|
NM_006397.3(RNASEH2A):c.125delinsCTAG (p.Leu42delinsProArg)
|
rs1792077195
|
|
NM_006397.3(RNASEH2A):c.127G>C (p.Gly43Arg)
|
rs1252576410
|
|
NM_006397.3(RNASEH2A):c.128G>T (p.Gly43Val)
|
rs755133697
|
|
NM_006397.3(RNASEH2A):c.146_148dup (p.Ile49_Cys50insPhe)
|
rs2145824522
|
|
NM_006397.3(RNASEH2A):c.160C>G (p.Leu54Val)
|
rs771789854
|
|
NM_006397.3(RNASEH2A):c.166C>T (p.Arg56Cys)
|
rs1969003412
|
|
NM_006397.3(RNASEH2A):c.167G>T (p.Arg56Leu)
|
rs761841313
|
|
NM_006397.3(RNASEH2A):c.179T>C (p.Leu60Pro)
|
rs373301983
|
|
NM_006397.3(RNASEH2A):c.181_189del (p.Glu61_Leu63del)
|
rs1969003682
|
|
NM_006397.3(RNASEH2A):c.196G>T (p.Ala66Ser)
|
rs2145824584
|
|
NM_006397.3(RNASEH2A):c.199+12G>T
|
|
|
NM_006397.3(RNASEH2A):c.199+9G>T
|
|
|
NM_006397.3(RNASEH2A):c.1A>G (p.Met1Val)
|
|
|
NM_006397.3(RNASEH2A):c.206dup (p.Thr70fs)
|
rs549586181
|
|
NM_006397.3(RNASEH2A):c.217G>A (p.Glu73Lys)
|
|
|
NM_006397.3(RNASEH2A):c.219G>C (p.Glu73Asp)
|
rs754532258
|
|
NM_006397.3(RNASEH2A):c.222C>A (p.Ser74Arg)
|
|
|
NM_006397.3(RNASEH2A):c.226C>T (p.Arg76Trp)
|
rs1969006970
|
|
NM_006397.3(RNASEH2A):c.227G>A (p.Arg76Gln)
|
rs747608935
|
|
NM_006397.3(RNASEH2A):c.242C>G (p.Ala81Gly)
|
|
|
NM_006397.3(RNASEH2A):c.247A>G (p.Met83Val)
|
|
|
NM_006397.3(RNASEH2A):c.25G>A (p.Asp9Asn)
|
|
|
NM_006397.3(RNASEH2A):c.261C>G (p.Asp87Glu)
|
rs776835503
|
|
NM_006397.3(RNASEH2A):c.268G>A (p.Gly90Ser)
|
rs773318256
|
|
NM_006397.3(RNASEH2A):c.268G>T (p.Gly90Cys)
|
|
|
NM_006397.3(RNASEH2A):c.290C>T (p.Ser97Phe)
|
rs1457758264
|
|
NM_006397.3(RNASEH2A):c.29A>G (p.Asn10Ser)
|
rs1555734300
|
|
NM_006397.3(RNASEH2A):c.322C>G (p.Arg108Gly)
|
rs76436818
|
|
NM_006397.3(RNASEH2A):c.322C>T (p.Arg108Trp)
|
rs76436818
|
|
NM_006397.3(RNASEH2A):c.323G>A (p.Arg108Gln)
|
rs1232764867
|
|
NM_006397.3(RNASEH2A):c.323G>C (p.Arg108Pro)
|
|
|
NM_006397.3(RNASEH2A):c.325G>A (p.Val109Ile)
|
|
|
NM_006397.3(RNASEH2A):c.337C>A (p.Leu113Met)
|
rs1969010870
|
|
NM_006397.3(RNASEH2A):c.359C>T (p.Thr120Ile)
|
|
|
NM_006397.3(RNASEH2A):c.373A>C (p.Ile125Leu)
|
rs1969011556
|
|
NM_006397.3(RNASEH2A):c.38G>T (p.Arg13Leu)
|
rs1289383180
|
|
NM_006397.3(RNASEH2A):c.393G>C (p.Gln131His)
|
rs2145825149
|
|
NM_006397.3(RNASEH2A):c.397G>A (p.Val133Met)
|
rs1969012072
|
|
NM_006397.3(RNASEH2A):c.411+14A>G
|
|
|
NM_006397.3(RNASEH2A):c.412G>A (p.Val138Ile)
|
|
|
NM_006397.3(RNASEH2A):c.417C>A (p.Phe139Leu)
|
rs201413125
|
|
NM_006397.3(RNASEH2A):c.418G>A (p.Val140Met)
|
|
|
NM_006397.3(RNASEH2A):c.422A>G (p.Asp141Gly)
|
rs967836212
|
|
NM_006397.3(RNASEH2A):c.441G>T (p.Glu147Asp)
|
rs772640456
|
|
NM_006397.3(RNASEH2A):c.445T>C (p.Tyr149His)
|
|
|
NM_006397.3(RNASEH2A):c.44G>A (p.Arg15His)
|
rs1968995083
|
|
NM_006397.3(RNASEH2A):c.4G>T (p.Asp2Tyr)
|
|
|
NM_006397.3(RNASEH2A):c.515A>G (p.Tyr172Cys)
|
rs1262482666
|
|
NM_006397.3(RNASEH2A):c.523G>A (p.Val175Ile)
|
|
|
NM_006397.3(RNASEH2A):c.528T>A (p.Ser176Arg)
|
rs1419883149
|
|
NM_006397.3(RNASEH2A):c.530C>T (p.Ala177Val)
|
rs2145827698
|
|
NM_006397.3(RNASEH2A):c.539T>A (p.Ile180Asn)
|
|
|
NM_006397.3(RNASEH2A):c.549+4A>G
|
|
|
NM_006397.3(RNASEH2A):c.550-13G>A
|
rs560268310
|
|
NM_006397.3(RNASEH2A):c.566C>A (p.Ala189Asp)
|
rs1448707577
|
|
NM_006397.3(RNASEH2A):c.569T>C (p.Val190Ala)
|
rs1969055468
|
|
NM_006397.3(RNASEH2A):c.572A>G (p.Lys191Arg)
|
rs748699424
|
|
NM_006397.3(RNASEH2A):c.586G>A (p.Val196Met)
|
|
|
NM_006397.3(RNASEH2A):c.592A>G (p.Lys198Glu)
|
rs2145827897
|
|
NM_006397.3(RNASEH2A):c.611C>A (p.Thr204Asn)
|
|
|
NM_006397.3(RNASEH2A):c.611C>T (p.Thr204Ile)
|
|
|
NM_006397.3(RNASEH2A):c.613G>T (p.Asp205Tyr)
|
rs965949988
|
|
NM_006397.3(RNASEH2A):c.622T>C (p.Ser208Pro)
|
rs2145827947
|
|
NM_006397.3(RNASEH2A):c.625G>C (p.Gly209Arg)
|
rs1568387884
|
|
NM_006397.3(RNASEH2A):c.635A>G (p.Asn212Ser)
|
rs377244188
|
|
NM_006397.3(RNASEH2A):c.635A>T (p.Asn212Ile)
|
rs377244188
|
|
NM_006397.3(RNASEH2A):c.636T>C (p.Asn212=)
|
rs2145827969
|
|
NM_006397.3(RNASEH2A):c.637+12C>G
|
|
|
NM_006397.3(RNASEH2A):c.637+3G>A
|
rs1399243066
|
|
NM_006397.3(RNASEH2A):c.665A>T (p.Glu222Val)
|
|
|
NM_006397.3(RNASEH2A):c.671T>A (p.Val224Glu)
|
rs1321788478
|
|
NM_006397.3(RNASEH2A):c.701T>G (p.Val234Gly)
|
|
|
NM_006397.3(RNASEH2A):c.705del (p.Phe236fs)
|
|
|
NM_006397.3(RNASEH2A):c.73C>G (p.Arg25Gly)
|
|
|
NM_006397.3(RNASEH2A):c.746C>A (p.Ala249Glu)
|
rs758719669
|
|
NM_006397.3(RNASEH2A):c.749A>C (p.Glu250Ala)
|
rs1157218789
|
|
NM_006397.3(RNASEH2A):c.74G>A (p.Arg25His)
|
rs955631391
|
|
NM_006397.3(RNASEH2A):c.74G>T (p.Arg25Leu)
|
rs955631391
|
|
NM_006397.3(RNASEH2A):c.757A>G (p.Ile253Val)
|
|
|
NM_006397.3(RNASEH2A):c.759A>G (p.Ile253Met)
|
|
|
NM_006397.3(RNASEH2A):c.762-14C>G
|
rs1297237306
|
|
NM_006397.3(RNASEH2A):c.764A>C (p.Glu255Ala)
|
|
|
NM_006397.3(RNASEH2A):c.773C>T (p.Ala258Val)
|
|
|
NM_006397.3(RNASEH2A):c.791G>A (p.Gly264Glu)
|
|
|
NM_006397.3(RNASEH2A):c.80A>G (p.Glu27Gly)
|
|
|
NM_006397.3(RNASEH2A):c.833A>C (p.Gln278Pro)
|
|
|
NM_006397.3(RNASEH2A):c.836C>G (p.Ala279Gly)
|
rs2145830509
|
|
NM_006397.3(RNASEH2A):c.838C>A (p.Arg280Ser)
|
|
|
NM_006397.3(RNASEH2A):c.83C>A (p.Pro28His)
|
rs1568386452
|
|
NM_006397.3(RNASEH2A):c.848C>G (p.Ser283Cys)
|
|
|
NM_006397.3(RNASEH2A):c.854A>C (p.His285Pro)
|
|
|
NM_006397.3(RNASEH2A):c.855C>G (p.His285Gln)
|
rs1568388876
|
|
NM_006397.3(RNASEH2A):c.856C>T (p.Arg286Ter)
|
rs1286615636
|
|
NM_006397.3(RNASEH2A):c.857G>T (p.Arg286Leu)
|
|
|
NM_006397.3(RNASEH2A):c.866del (p.Leu289fs)
|
rs1969104623
|
|
NM_006397.3(RNASEH2A):c.869A>T (p.Glu290Val)
|
rs1425963270
|
|
NM_006397.3(RNASEH2A):c.872G>T (p.Arg291Leu)
|
rs75037667
|
|
NM_006397.3(RNASEH2A):c.874G>C (p.Gly292Arg)
|
|
|
NM_006397.3(RNASEH2A):c.881A>G (p.Glu294Gly)
|
rs2145830589
|
|
NM_006397.3(RNASEH2A):c.883T>A (p.Ser295Thr)
|
rs1438193575
|
|
NM_006397.3(RNASEH2A):c.884C>T (p.Ser295Leu)
|
rs1969105528
|
|
NM_006397.3(RNASEH2A):c.886G>A (p.Ala296Thr)
|
rs1243574081
|
|
NM_006397.3(RNASEH2A):c.889A>G (p.Thr297Ala)
|
rs775006544
|
|
NM_006397.3(RNASEH2A):c.8T>C (p.Leu3Pro)
|
|
|
NM_006397.3(RNASEH2A):c.94G>A (p.Gly32Ser)
|
|
|
NM_006929.4(SKIC2):c.-193A>C
|
rs886061302
|
|
NM_006929.5(SKIC2):c.-14G>A
|
rs886061304
|
|
NM_006929.5(SKIC2):c.1114G>A (p.Asp372Asn)
|
|
|
NM_006929.5(SKIC2):c.1151C>T (p.Thr384Ile)
|
rs886061307
|
|
NM_006929.5(SKIC2):c.1177G>A (p.Ala393Thr)
|
rs1772553546
|
|
NM_006929.5(SKIC2):c.132C>T (p.Pro44=)
|
rs886061306
|
|
NM_006929.5(SKIC2):c.1566G>A (p.Val522=)
|
rs1772631304
|
|
NM_006929.5(SKIC2):c.1598C>T (p.Ala533Val)
|
|
|
NM_006929.5(SKIC2):c.1637G>A (p.Gly546Asp)
|
rs148748996
|
|
NM_006929.5(SKIC2):c.1651C>T (p.Arg551Cys)
|
rs775680687
|
|
NM_006929.5(SKIC2):c.1808T>C (p.Phe603Ser)
|
rs886061308
|
|
NM_006929.5(SKIC2):c.2052C>G (p.His684Gln)
|
rs61761946
|
|
NM_006929.5(SKIC2):c.2060C>A (p.Ser687Tyr)
|
rs762436773
|
|
NM_006929.5(SKIC2):c.2442G>C (p.Trp814Cys)
|
rs148221996
|
|
NM_006929.5(SKIC2):c.2479-7T>C
|
rs190972540
|
|
NM_006929.5(SKIC2):c.2731+14A>C
|
rs1772908176
|
|
NM_006929.5(SKIC2):c.3467A>T (p.Gln1156Leu)
|
rs747936095
|
|
NM_006929.5(SKIC2):c.354+15G>T
|
rs755363139
|
|
NM_006929.5(SKIC2):c.3637dup (p.Ala1213fs)
|
rs1554292539
|
|
NM_006949.4(STXBP2):c.1134G>A (p.Glu378=)
|
rs755758613
|
|
NM_006949.4(STXBP2):c.1530C>G (p.Ala510=)
|
rs755717157
|
|
NM_006949.4(STXBP2):c.1586G>C (p.Arg529Pro)
|
rs35490401
|
|
NM_006949.4(STXBP2):c.680_685del (p.Arg227_Ser228del)
|
rs2146217668
|
|
NM_007194.4(CHEK2):c.1078G>A (p.Glu360Lys)
|
rs876658337
|
|
NM_007194.4(CHEK2):c.1216C>T (p.Arg406Cys)
|
rs587782527
|
|
NM_007194.4(CHEK2):c.1375+3A>G
|
rs876659868
|
|
NM_007194.4(CHEK2):c.1510G>C (p.Glu504Gln)
|
rs587782489
|
|
NM_007194.4(CHEK2):c.319+3965C>T
|
rs766676371
|
|
NM_007194.4(CHEK2):c.686G>A (p.Gly229Asp)
|
rs778212685
|
|
NM_007194.4(CHEK2):c.742A>G (p.Ile248Val)
|
rs779457035
|
|
NM_007194.4(CHEK2):c.749TCA[1] (p.Ile251del)
|
rs1601783129
|
|
NM_007194.4(CHEK2):c.796C>A (p.Pro266Thr)
|
rs1601777776
|
|
NM_007194.4(CHEK2):c.920G>A (p.Gly307Glu)
|
rs876661053
|
|
NM_007194.4(CHEK2):c.967A>C (p.Thr323Pro)
|
rs750984976
|
|
NM_012275.3(IL36RN):c.*1051T>C
|
rs886054769
|
|
NM_012275.3(IL36RN):c.*106G>A
|
rs182598494
|
|
NM_012275.3(IL36RN):c.*1405G>T
|
rs1315608540
|
|
NM_012275.3(IL36RN):c.*15dup
|
rs748582624
|
|
NM_012275.3(IL36RN):c.*1641C>G
|
rs549754573
|
|
NM_012275.3(IL36RN):c.*1698G>A
|
rs1379624001
|
|
NM_012275.3(IL36RN):c.*1942C>G
|
rs886054772
|
|
NM_012275.3(IL36RN):c.*298G>A
|
rs1685673604
|
|
NM_012275.3(IL36RN):c.*401A>C
|
rs3180234
|
|
NM_012275.3(IL36RN):c.*401A>T
|
rs3180234
|
|
NM_012275.3(IL36RN):c.*720G>T
|
rs771527648
|
|
NM_012275.3(IL36RN):c.*857A>G
|
rs886054768
|
|
NM_012275.3(IL36RN):c.*866G>A
|
rs1685687215
|
|
NM_012275.3(IL36RN):c.-47G>A
|
rs886054765
|
|
NM_012275.3(IL36RN):c.115+4G>A
|
rs2105068105
|
|
NM_012275.3(IL36RN):c.123G>C (p.Glu41Asp)
|
|
|
NM_012275.3(IL36RN):c.123G>T (p.Glu41Asp)
|
rs1685653783
|
|
NM_012275.3(IL36RN):c.130G>T (p.Val44Leu)
|
|
|
NM_012275.3(IL36RN):c.140A>T (p.Asn47Ile)
|
|
|
NM_012275.3(IL36RN):c.142C>A (p.Arg48=)
|
rs151325121
|
|
NM_012275.3(IL36RN):c.164C>T (p.Ser55Phe)
|
rs1458580125
|
|
NM_012275.3(IL36RN):c.17C>T (p.Ala6Val)
|
|
|
NM_012275.3(IL36RN):c.208T>C (p.Cys70Arg)
|
rs375718709
|
|
NM_012275.3(IL36RN):c.215T>C (p.Val72Ala)
|
|
|
NM_012275.3(IL36RN):c.253A>G (p.Ile85Val)
|
rs2105069719
|
|
NM_012275.3(IL36RN):c.266A>G (p.Tyr89Cys)
|
rs1213179423
|
|
NM_012275.3(IL36RN):c.275C>T (p.Ala92Val)
|
rs1685662918
|
|
NM_012275.3(IL36RN):c.29+3G>A
|
rs976893250
|
|
NM_012275.3(IL36RN):c.29+5G>A
|
rs1685595922
|
|
NM_012275.3(IL36RN):c.29+6T>C
|
rs1685595982
|
|
NM_012275.3(IL36RN):c.291C>A (p.Ser97Arg)
|
|
|
NM_012275.3(IL36RN):c.30-14T>A
|
rs886054766
|
|
NM_012275.3(IL36RN):c.305G>A (p.Arg102Gln)
|
|
|
NM_012275.3(IL36RN):c.322A>T (p.Thr108Ser)
|
|
|
NM_012275.3(IL36RN):c.329del (p.Ser110fs)
|
rs2105069859
|
|
NM_012275.3(IL36RN):c.350C>A (p.Pro117Gln)
|
|
|
NM_012275.3(IL36RN):c.369G>A (p.Thr123=)
|
rs28938778
|
|
NM_012275.3(IL36RN):c.398_413del (p.Leu133fs)
|
rs779718440
|
|
NM_012275.3(IL36RN):c.40T>G (p.Ser14Ala)
|
rs1191516439
|
|
NM_012275.3(IL36RN):c.418G>A (p.Gly140Ser)
|
|
|
NM_012275.3(IL36RN):c.418G>T (p.Gly140Cys)
|
rs1415006327
|
|
NM_012275.3(IL36RN):c.421G>A (p.Gly141Ser)
|
rs1424377493
|
|
NM_012275.3(IL36RN):c.422G>A (p.Gly141Asp)
|
rs758533837
|
|
NM_012275.3(IL36RN):c.91C>A (p.Leu31Met)
|
|
|
NM_012275.3(IL36RN):c.97G>A (p.Ala33Thr)
|
|
|
NM_012388.4(BLOC1S6):c.501A>T (p.Arg167Ser)
|
rs775510569
|
|
NM_014314.4(RIGI):c.1863G>T (p.Glu621Asp)
|
rs145874548
|
|
NM_014314.4(RIGI):c.2368A>C (p.Ile790Leu)
|
rs771103623
|
|
NM_014314.4(RIGI):c.396_399del (p.Asn133fs)
|
rs760088776
|
|
NM_014314.4(RIGI):c.816dup (p.Val273fs)
|
rs781124785
|
|
NM_014314.4(RIGI):c.877G>C (p.Val293Leu)
|
|
|
NM_014319.5(LEMD3):c.1522+11509_1522+11513del
|
|
|
NM_014639.4(SKIC3):c.*1C>G
|
|
|
NM_014639.4(SKIC3):c.1045A>G (p.Arg349Gly)
|
|
|
NM_014639.4(SKIC3):c.1413A>G (p.Thr471=)
|
rs1747534368
|
|
NM_014639.4(SKIC3):c.1507T>C (p.Tyr503His)
|
|
|
NM_014639.4(SKIC3):c.1733G>T (p.Gly578Val)
|
rs1747497202
|
|
NM_014639.4(SKIC3):c.2494G>T (p.Gly832Cys)
|
rs1347862457
|
|
NM_014639.4(SKIC3):c.344G>T (p.Trp115Leu)
|
|
|
NM_014639.4(SKIC3):c.4061A>G (p.Lys1354Arg)
|
|
|
NM_014639.4(SKIC3):c.4310G>T (p.Ser1437Ile)
|
rs755895621
|
|
NM_014639.4(SKIC3):c.4460A>G (p.Gln1487Arg)
|
rs757945497
|
|
NM_014874.4(MFN2):c.1555C>T (p.Arg519Cys)
|
rs369140232
|
|
NM_015061.6(KDM4C):c.1112G>A (p.Arg371Gln)
|
|
|
NM_015061.6(KDM4C):c.2320G>A (p.Ala774Thr)
|
|
|
NM_015474.4(SAMHD1):c.1009T>C (p.Phe337Leu)
|
rs2146116896
|
|
NM_015474.4(SAMHD1):c.1012G>T (p.Ala338Ser)
|
|
|
NM_015474.4(SAMHD1):c.101C>T (p.Pro34Leu)
|
rs2063734567
|
|
NM_015474.4(SAMHD1):c.1024G>A (p.Glu342Lys)
|
|
|
NM_015474.4(SAMHD1):c.1030G>A (p.Asp344Asn)
|
|
|
NM_015474.4(SAMHD1):c.1037A>C (p.Glu346Ala)
|
rs886056648
|
|
NM_015474.4(SAMHD1):c.104G>A (p.Gly35Asp)
|
rs751026561
|
|
NM_015474.4(SAMHD1):c.104G>T (p.Gly35Val)
|
|
|
NM_015474.4(SAMHD1):c.1081G>A (p.Asp361Asn)
|
rs546930607
|
|
NM_015474.4(SAMHD1):c.1086G>A (p.Met362Ile)
|
rs2148365764
|
|
NM_015474.4(SAMHD1):c.1093A>G (p.Thr365Ala)
|
rs1478441405
|
|
NM_015474.4(SAMHD1):c.1094C>A (p.Thr365Asn)
|
rs2063446998
|
|
NM_015474.4(SAMHD1):c.1096C>T (p.Arg366Cys)
|
rs138089277
|
|
NM_015474.4(SAMHD1):c.1111C>T (p.Arg371Cys)
|
rs774991764
|
|
NM_015474.4(SAMHD1):c.1130A>G (p.Lys377Arg)
|
|
|
NM_015474.4(SAMHD1):c.1141A>G (p.Ile381Val)
|
|
|
NM_015474.4(SAMHD1):c.1153A>G (p.Met385Val)
|
rs515726140
|
|
NM_015474.4(SAMHD1):c.1154+4A>T
|
|
|
NM_015474.4(SAMHD1):c.1155-7T>G
|
rs563734052
|
|
NM_015474.4(SAMHD1):c.1160C>T (p.Thr387Ile)
|
rs2063439054
|
|
NM_015474.4(SAMHD1):c.1163A>G (p.Asp388Gly)
|
|
|
NM_015474.4(SAMHD1):c.1174A>G (p.Lys392Glu)
|
rs1338752164
|
|
NM_015474.4(SAMHD1):c.119C>T (p.Pro40Leu)
|
|
|
NM_015474.4(SAMHD1):c.11C>T (p.Ala4Val)
|
rs755673943
|
|
NM_015474.4(SAMHD1):c.1201G>A (p.Gly401Ser)
|
rs2063438570
|
|
NM_015474.4(SAMHD1):c.1208_1209delinsAT (p.Gly403Asp)
|
rs2148364990
|
|
NM_015474.4(SAMHD1):c.1216A>C (p.Lys406Gln)
|
|
|
NM_015474.4(SAMHD1):c.121G>T (p.Asp41Tyr)
|
rs2063734469
|
|
NM_015474.4(SAMHD1):c.1229C>T (p.Ser410Phe)
|
|
|
NM_015474.4(SAMHD1):c.1238T>C (p.Ile413Thr)
|
rs1444630318
|
|
NM_015474.4(SAMHD1):c.1243G>A (p.Asp415Asn)
|
|
|
NM_015474.4(SAMHD1):c.1246A>G (p.Met416Val)
|
|
|
NM_015474.4(SAMHD1):c.124_126del (p.Tyr42del)
|
|
|
NM_015474.4(SAMHD1):c.1265T>A (p.Leu422Gln)
|
|
|
NM_015474.4(SAMHD1):c.1270G>C (p.Asp424His)
|
|
|
NM_015474.4(SAMHD1):c.1271-3C>T
|
|
|
NM_015474.4(SAMHD1):c.1271-5G>A
|
rs2063399774
|
|
NM_015474.4(SAMHD1):c.1291T>A (p.Leu431Ile)
|
rs2148360629
|
|
NM_015474.4(SAMHD1):c.130_134del (p.Thr44fs)
|
rs2063734360
|
|
NM_015474.4(SAMHD1):c.1321G>C (p.Ala441Pro)
|
rs1311797673
|
|
NM_015474.4(SAMHD1):c.1324C>T (p.Arg442Ter)
|
rs369587937
|
|
NM_015474.4(SAMHD1):c.1329G>T (p.Glu443Asp)
|
|
|
NM_015474.4(SAMHD1):c.1379C>T (p.Thr460Met)
|
|
|
NM_015474.4(SAMHD1):c.1384C>A (p.Pro462Thr)
|
rs1215408383
|
|
NM_015474.4(SAMHD1):c.1391G>A (p.Gly464Glu)
|
rs751309562
|
|
NM_015474.4(SAMHD1):c.139C>G (p.Pro47Ala)
|
|
|
NM_015474.4(SAMHD1):c.1401_1406del (p.466IK[1])
|
|
|
NM_015474.4(SAMHD1):c.1410+12G>T
|
rs2063398513
|
|
NM_015474.4(SAMHD1):c.1410+4A>C
|
|
|
NM_015474.4(SAMHD1):c.1410+5G>T
|
rs1601119476
|
|
NM_015474.4(SAMHD1):c.1442C>T (p.Ala481Val)
|
|
|
NM_015474.4(SAMHD1):c.1445G>C (p.Ser482Thr)
|
|
|
NM_015474.4(SAMHD1):c.1447G>A (p.Ala483Thr)
|
|
|
NM_015474.4(SAMHD1):c.1457A>G (p.Lys486Arg)
|
|
|
NM_015474.4(SAMHD1):c.1459G>A (p.Val487Ile)
|
rs2148359709
|
|
NM_015474.4(SAMHD1):c.1475A>C (p.Lys492Thr)
|
|
|
NM_015474.4(SAMHD1):c.147G>C (p.Gln49His)
|
|
|
NM_015474.4(SAMHD1):c.1483G>C (p.Ala495Pro)
|
rs2063392360
|
|
NM_015474.4(SAMHD1):c.1503+3A>C
|
|
|
NM_015474.4(SAMHD1):c.1511A>C (p.Asn504Thr)
|
rs1990240962
|
|
NM_015474.4(SAMHD1):c.1523G>A (p.Gly508Glu)
|
rs1363652608
|
|
NM_015474.4(SAMHD1):c.1536G>C (p.Lys512Asn)
|
rs999709360
|
|
NM_015474.4(SAMHD1):c.1536G>T (p.Lys512Asn)
|
|
|
NM_015474.4(SAMHD1):c.1537A>C (p.Asn513His)
|
|
|
NM_015474.4(SAMHD1):c.1543A>G (p.Ile515Val)
|
|
|
NM_015474.4(SAMHD1):c.1547A>G (p.Asp516Gly)
|
|
|
NM_015474.4(SAMHD1):c.1552G>A (p.Val518Ile)
|
|
|
NM_015474.4(SAMHD1):c.1565G>A (p.Cys522Tyr)
|
rs1046544176
|
|
NM_015474.4(SAMHD1):c.1580A>G (p.Asn527Ser)
|
|
|
NM_015474.4(SAMHD1):c.1590C>G (p.Ile530Met)
|
rs1354357820
|
|
NM_015474.4(SAMHD1):c.1593G>T (p.Arg531Ser)
|
|
|
NM_015474.4(SAMHD1):c.1598C>T (p.Thr533Ile)
|
rs2148355946
|
|
NM_015474.4(SAMHD1):c.1603A>T (p.Asn535Tyr)
|
rs2148355943
|
|
NM_015474.4(SAMHD1):c.1608+6T>A
|
rs747508625
|
|
NM_015474.4(SAMHD1):c.1609-1G>C
|
rs515726143
|
|
NM_015474.4(SAMHD1):c.1618C>T (p.Leu540Phe)
|
|
|
NM_015474.4(SAMHD1):c.1632A>C (p.Lys544Asn)
|
|
|
NM_015474.4(SAMHD1):c.1634T>G (p.Phe545Cys)
|
rs1401777461
|
|
NM_015474.4(SAMHD1):c.1639G>A (p.Glu547Lys)
|
rs2148355589
|
|
NM_015474.4(SAMHD1):c.1648A>T (p.Ile550Phe)
|
|
|
NM_015474.4(SAMHD1):c.1652G>A (p.Arg551Gln)
|
|
|
NM_015474.4(SAMHD1):c.1657T>G (p.Tyr553Asp)
|
rs1442543580
|
|
NM_015474.4(SAMHD1):c.1658A>G (p.Tyr553Cys)
|
rs2148355563
|
|
NM_015474.4(SAMHD1):c.1661G>A (p.Cys554Tyr)
|
|
|
NM_015474.4(SAMHD1):c.1670T>G (p.Val557Gly)
|
rs769234037
|
|
NM_015474.4(SAMHD1):c.1674C>G (p.Asp558Glu)
|
rs1252711773
|
|
NM_015474.4(SAMHD1):c.1679A>G (p.Lys560Arg)
|
|
|
NM_015474.4(SAMHD1):c.1681_1682del (p.Ser561fs)
|
|
|
NM_015474.4(SAMHD1):c.169G>C (p.Gly57Arg)
|
|
|
NM_015474.4(SAMHD1):c.16T>A (p.Ser6Thr)
|
rs1187125859
|
|
NM_015474.4(SAMHD1):c.16T>G (p.Ser6Ala)
|
rs1187125859
|
|
NM_015474.4(SAMHD1):c.1705T>A (p.Phe569Ile)
|
rs2148355522
|
|
NM_015474.4(SAMHD1):c.1711C>A (p.Gln571Lys)
|
rs1990225699
|
|
NM_015474.4(SAMHD1):c.1711C>T (p.Gln571Ter)
|
|
|
NM_015474.4(SAMHD1):c.1720G>A (p.Ala574Thr)
|
|
|
NM_015474.4(SAMHD1):c.1723G>A (p.Asp575Asn)
|
rs1990225210
|
|
NM_015474.4(SAMHD1):c.1725C>G (p.Asp575Glu)
|
rs1448113794
|
|
NM_015474.4(SAMHD1):c.1735A>G (p.Thr579Ala)
|
rs886056647
|
|
NM_015474.4(SAMHD1):c.1739A>G (p.Lys580Arg)
|
rs1255928710
|
|
NM_015474.4(SAMHD1):c.1739A>T (p.Lys580Met)
|
|
|
NM_015474.4(SAMHD1):c.1746+4G>A
|
|
|
NM_015474.4(SAMHD1):c.1746+4_1746+15del
|
rs1568758975
|
|
NM_015474.4(SAMHD1):c.1757T>A (p.Val586Asp)
|
rs2148352252
|
|
NM_015474.4(SAMHD1):c.1780C>T (p.Gln594Ter)
|
rs1990117713
|
|
NM_015474.4(SAMHD1):c.1785A>T (p.Lys595Asn)
|
rs1245985032
|
|
NM_015474.4(SAMHD1):c.1802G>A (p.Ser601Asn)
|
|
|
NM_015474.4(SAMHD1):c.1825C>T (p.Arg609Cys)
|
|
|
NM_015474.4(SAMHD1):c.1831C>G (p.Arg611Gly)
|
|
|
NM_015474.4(SAMHD1):c.1841C>A (p.Ser614Tyr)
|
|
|
NM_015474.4(SAMHD1):c.184C>T (p.Pro62Ser)
|
rs2146160495
|
|
NM_015474.4(SAMHD1):c.1862T>A (p.Phe621Tyr)
|
rs2148352114
|
|
NM_015474.4(SAMHD1):c.1876A>G (p.Met626Val)
|
|
|
NM_015474.4(SAMHD1):c.1877T>A (p.Met626Lys)
|
|
|
NM_015474.4(SAMHD1):c.194T>G (p.Leu65Arg)
|
rs2146160474
|
|
NM_015474.4(SAMHD1):c.200A>G (p.Asn67Ser)
|
rs2063733948
|
|
NM_015474.4(SAMHD1):c.208+4G>A
|
rs1273248542
|
|
NM_015474.4(SAMHD1):c.211A>T (p.Asn71Tyr)
|
|
|
NM_015474.4(SAMHD1):c.226G>A (p.Ala76Thr)
|
rs141599277
|
|
NM_015474.4(SAMHD1):c.23A>G (p.Gln8Arg)
|
rs149797357
|
|
NM_015474.4(SAMHD1):c.245A>G (p.Asp82Gly)
|
|
|
NM_015474.4(SAMHD1):c.249G>T (p.Glu83Asp)
|
rs2063689102
|
|
NM_015474.4(SAMHD1):c.253C>T (p.Arg85Cys)
|
|
|
NM_015474.4(SAMHD1):c.274A>G (p.Ser92Gly)
|
|
|
NM_015474.4(SAMHD1):c.284G>C (p.Gly95Ala)
|
rs1277922979
|
|
NM_015474.4(SAMHD1):c.284G>T (p.Gly95Val)
|
|
|
NM_015474.4(SAMHD1):c.289A>G (p.Arg97Gly)
|
|
|
NM_015474.4(SAMHD1):c.2T>A (p.Met1Lys)
|
rs923362391
|
|
NM_015474.4(SAMHD1):c.308A>G (p.Tyr103Cys)
|
|
|
NM_015474.4(SAMHD1):c.335T>C (p.Val112Ala)
|
|
|
NM_015474.4(SAMHD1):c.343A>C (p.Met115Leu)
|
|
|
NM_015474.4(SAMHD1):c.349G>A (p.Val117Ile)
|
|
|
NM_015474.4(SAMHD1):c.35G>A (p.Arg12His)
|
rs2146161012
|
|
NM_015474.4(SAMHD1):c.364A>G (p.Ile122Val)
|
rs757367080
|
|
NM_015474.4(SAMHD1):c.397G>A (p.Val133Ile)
|
|
|
NM_015474.4(SAMHD1):c.400C>G (p.Arg134Gly)
|
rs752442185
|
|
NM_015474.4(SAMHD1):c.410A>G (p.Asp137Gly)
|
|
|
NM_015474.4(SAMHD1):c.415C>T (p.Pro139Ser)
|
|
|
NM_015474.4(SAMHD1):c.427C>A (p.Arg143Ser)
|
|
|
NM_015474.4(SAMHD1):c.434G>A (p.Arg145Gln)
|
rs515726145
|
|
NM_015474.4(SAMHD1):c.454G>C (p.Gly152Arg)
|
rs775844501
|
|
NM_015474.4(SAMHD1):c.457G>A (p.Gly153Ser)
|
|
|
NM_015474.4(SAMHD1):c.46G>T (p.Asp16Tyr)
|
rs200703816
|
|
NM_015474.4(SAMHD1):c.491G>A (p.Arg164Gln)
|
|
|
NM_015474.4(SAMHD1):c.494T>C (p.Phe165Ser)
|
rs765879627
|
|
NM_015474.4(SAMHD1):c.49G>A (p.Asp17Asn)
|
|
|
NM_015474.4(SAMHD1):c.503G>T (p.Ser168Ile)
|
rs2146137354
|
|
NM_015474.4(SAMHD1):c.511G>T (p.Val171Leu)
|
rs2063564236
|
|
NM_015474.4(SAMHD1):c.521T>A (p.Leu174Gln)
|
rs2146132117
|
|
NM_015474.4(SAMHD1):c.543A>T (p.Ala181=)
|
rs769968442
|
|
NM_015474.4(SAMHD1):c.548G>C (p.Gly183Ala)
|
|
|
NM_015474.4(SAMHD1):c.559C>A (p.Pro187Thr)
|
rs2146132053
|
|
NM_015474.4(SAMHD1):c.55C>T (p.Pro19Ser)
|
rs2146160927
|
|
NM_015474.4(SAMHD1):c.565C>G (p.Leu189Val)
|
rs2146132029
|
|
NM_015474.4(SAMHD1):c.56C>G (p.Pro19Arg)
|
rs1308458054
|
|
NM_015474.4(SAMHD1):c.571A>C (p.Ile191Leu)
|
rs1303667371
|
|
NM_015474.4(SAMHD1):c.571A>G (p.Ile191Val)
|
rs1303667371
|
|
NM_015474.4(SAMHD1):c.599A>G (p.Gln200Arg)
|
|
|
NM_015474.4(SAMHD1):c.5_7dup (p.Gln2dup)
|
rs758547160
|
|
NM_015474.4(SAMHD1):c.605C>T (p.Ala202Val)
|
rs1568776699
|
|
NM_015474.4(SAMHD1):c.616C>T (p.His206Tyr)
|
|
|
NM_015474.4(SAMHD1):c.626G>A (p.Gly209Asp)
|
|
|
NM_015474.4(SAMHD1):c.62C>T (p.Thr21Ile)
|
rs760912458
|
|
NM_015474.4(SAMHD1):c.631G>A (p.Gly211Arg)
|
|
|
NM_015474.4(SAMHD1):c.644A>C (p.His215Pro)
|
rs772029258
|
|
NM_015474.4(SAMHD1):c.650T>C (p.Phe217Ser)
|
rs2146127793
|
|
NM_015474.4(SAMHD1):c.659G>A (p.Arg220Gln)
|
|
|
NM_015474.4(SAMHD1):c.667C>T (p.Pro223Ser)
|
rs1235181942
|
|
NM_015474.4(SAMHD1):c.668C>T (p.Pro223Leu)
|
rs1601138159
|
|
NM_015474.4(SAMHD1):c.676C>G (p.Arg226Gly)
|
rs778647626
|
|
NM_015474.4(SAMHD1):c.676C>T (p.Arg226Cys)
|
rs778647626
|
|
NM_015474.4(SAMHD1):c.67T>A (p.Ser23Thr)
|
rs886056649
|
|
NM_015474.4(SAMHD1):c.680C>T (p.Pro227Leu)
|
rs753391551
|
|
NM_015474.4(SAMHD1):c.682G>C (p.Glu228Gln)
|
|
|
NM_015474.4(SAMHD1):c.689A>G (p.Lys230Arg)
|
|
|
NM_015474.4(SAMHD1):c.695C>T (p.Thr232Met)
|
|
|
NM_015474.4(SAMHD1):c.696+5G>A
|
rs1468637736
|
|
NM_015474.4(SAMHD1):c.696G>A (p.Thr232=)
|
|
|
NM_015474.4(SAMHD1):c.70A>G (p.Asn24Asp)
|
rs2146160848
|
|
NM_015474.4(SAMHD1):c.715ATG[1] (p.Met240del)
|
|
|
NM_015474.4(SAMHD1):c.726G>C (p.Glu242Asp)
|
rs1239766590
|
|
NM_015474.4(SAMHD1):c.766C>A (p.Gln256Lys)
|
|
|
NM_015474.4(SAMHD1):c.76C>T (p.Pro26Ser)
|
rs2146160814
|
|
NM_015474.4(SAMHD1):c.792T>C (p.Asp264=)
|
rs774333580
|
|
NM_015474.4(SAMHD1):c.793A>G (p.Ile265Val)
|
|
|
NM_015474.4(SAMHD1):c.808G>A (p.Glu270Lys)
|
|
|
NM_015474.4(SAMHD1):c.80C>T (p.Ser27Phe)
|
|
|
NM_015474.4(SAMHD1):c.815T>C (p.Ile272Thr)
|
|
|
NM_015474.4(SAMHD1):c.817G>T (p.Val273Leu)
|
|
|
NM_015474.4(SAMHD1):c.821G>A (p.Gly274Glu)
|
rs2063492690
|
|
NM_015474.4(SAMHD1):c.82G>A (p.Ala28Thr)
|
|
|
NM_015474.4(SAMHD1):c.847T>G (p.Ser283Ala)
|
rs2146119399
|
|
NM_015474.4(SAMHD1):c.852G>A (p.Leu284=)
|
rs2146119382
|
|
NM_015474.4(SAMHD1):c.87G>T (p.Glu29Asp)
|
rs1451769476
|
|
NM_015474.4(SAMHD1):c.883A>G (p.Ser295Gly)
|
rs2146117130
|
|
NM_015474.4(SAMHD1):c.888C>T (p.Phe296=)
|
|
|
NM_015474.4(SAMHD1):c.889C>G (p.Leu297Val)
|
rs774197667
|
|
NM_015474.4(SAMHD1):c.88G>T (p.Ala30Ser)
|
|
|
NM_015474.4(SAMHD1):c.899T>C (p.Ile300Thr)
|
|
|
NM_015474.4(SAMHD1):c.933C>T (p.Asp311=)
|
rs2063480136
|
|
NM_015474.4(SAMHD1):c.94T>C (p.Trp32Arg)
|
|
|
NM_015474.4(SAMHD1):c.951C>T (p.Ala317=)
|
|
|
NM_015474.4(SAMHD1):c.953G>A (p.Arg318Lys)
|
|
|
NM_015474.4(SAMHD1):c.957C>G (p.Asp319Glu)
|
|
|
NM_015474.4(SAMHD1):c.997C>T (p.Arg333Cys)
|
rs770005027
|
|
NM_015474.4(SAMHD1):c.998G>T (p.Arg333Leu)
|
|
|
NM_015922.3(NSDHL):c.1031A>G (p.Lys344Arg)
|
rs2125017628
|
|
NM_015922.3(NSDHL):c.1054C>G (p.Leu352Val)
|
rs142351862
|
|
NM_015922.3(NSDHL):c.414+2T>C
|
|
|
NM_015922.3(NSDHL):c.43C>T (p.Arg15Trp)
|
|
|
NM_015967.8(PTPN22):c.1894+2T>C
|
|
|
NM_016339.6(RAPGEFL1):c.1264C>T (p.Arg422Ter)
|
|
|
NM_017414.4(USP18):c.907G>A (p.Glu303Lys)
|
|
|
NM_017617.5(NOTCH1):c.5260G>A (p.Val1754Met)
|
rs1554727492
|
|
NM_017617.5(NOTCH1):c.7482G>A (p.Val2494=)
|
rs1268405497
|
|
NM_017849.4(TMEM127):c.31G>T (p.Gly11Cys)
|
rs992633976
|
|
NM_018699.3(PRDM5):c.-207G>A
|
rs879793284
|
|
NM_018699.3(PRDM5):c.-245C>G
|
rs886059047
|
|
NM_018699.4(PRDM5):c.*141T>C
|
rs886059040
|
|
NM_018699.4(PRDM5):c.128G>C (p.Arg43Thr)
|
rs563401372
|
|
NM_018699.4(PRDM5):c.1312G>A (p.Asp438Asn)
|
rs759022476
|
|
NM_018699.4(PRDM5):c.1385G>C (p.Arg462Thr)
|
rs886059041
|
|
NM_018699.4(PRDM5):c.1538-5T>G
|
rs1744464153
|
|
NM_018699.4(PRDM5):c.1887C>T (p.Asp629=)
|
rs376740879
|
|
NM_018699.4(PRDM5):c.237C>T (p.Ser79=)
|
rs374500219
|
|
NM_018699.4(PRDM5):c.36G>T (p.Leu12=)
|
rs755929725
|
|
NM_018699.4(PRDM5):c.392A>C (p.Glu131Ala)
|
rs886059044
|
|
NM_018699.4(PRDM5):c.44C>T (p.Ser15Phe)
|
|
|
NM_018699.4(PRDM5):c.475+9T>A
|
rs1561379470
|
|
NM_018699.4(PRDM5):c.592G>C (p.Glu198Gln)
|
rs886059043
|
|
NM_018699.4(PRDM5):c.650+7A>T
|
rs751182540
|
|
NM_018699.4(PRDM5):c.769C>T (p.Arg257Trp)
|
|
|
NM_018699.4(PRDM5):c.783G>T (p.Arg261Ser)
|
|
|
NM_018699.4(PRDM5):c.898T>C (p.Cys300Arg)
|
|
|
NM_018699.4(PRDM5):c.94-10T>G
|
rs886059045
|
|
NM_018699.4(PRDM5):c.946-9C>T
|
rs886059042
|
|
NM_020232.5(PSMG2):c.377C>G (p.Ser126Ter)
|
|
|
NM_020529.3(NFKBIA):c.91G>A (p.Asp31Asn)
|
rs2052769679
|
|
NM_020779.4(WDR35):c.1255+5G>A
|
rs1034087679
|
|
NM_020779.4(WDR35):c.1833C>G (p.Asn611Lys)
|
rs1671026684
|
|
NM_020779.4(WDR35):c.2409A>G (p.Gln803=)
|
rs140630290
|
|
NM_020779.4(WDR35):c.658G>A (p.Val220Met)
|
rs746602378
|
|
NM_020800.3(IFT80):c.546G>A (p.Leu182=)
|
rs543233802
|
|
NM_020800.3(IFT80):c.550-4A>T
|
rs769891425
|
|
NM_020800.3(IFT80):c.670A>T (p.Asn224Tyr)
|
rs2108360263
|
|
NM_021625.5(TRPV4):c.1570TTC[2] (p.Phe526del)
|
rs1393630996
|
|
NM_021625.5(TRPV4):c.2421T>G (p.Tyr807Ter)
|
rs2136417346
|
|
NM_022124.6(CDH23):c.1270G>A (p.Val424Met)
|
rs2305207
|
|
NM_022124.6(CDH23):c.1417G>A (p.Val473Ile)
|
rs771847607
|
|
NM_022124.6(CDH23):c.1535C>T (p.Thr512Met)
|
|
|
NM_022124.6(CDH23):c.2745C>G (p.Ile915Met)
|
rs183220886
|
|
NM_022124.6(CDH23):c.2842G>T (p.Val948Phe)
|
rs2132740122
|
|
NM_022124.6(CDH23):c.2846C>T (p.Thr949Ile)
|
|
|
NM_022124.6(CDH23):c.2863C>A (p.Arg955Ser)
|
rs765094120
|
|
NM_022124.6(CDH23):c.2863C>T (p.Arg955Cys)
|
rs765094120
|
|
NM_022124.6(CDH23):c.2864G>A (p.Arg955His)
|
rs758293939
|
|
NM_022124.6(CDH23):c.3330C>G (p.Ser1110Arg)
|
rs371962929
|
|
NM_022124.6(CDH23):c.4195G>A (p.Asp1399Asn)
|
|
|
NM_022124.6(CDH23):c.4617+5G>C
|
rs772189237
|
|
NM_022124.6(CDH23):c.5116C>T (p.Arg1706Cys)
|
rs759876454
|
|
NM_022124.6(CDH23):c.6654C>A (p.Asp2218Glu)
|
rs537236734
|
|
NM_022124.6(CDH23):c.6841G>A (p.Val2281Ile)
|
rs2132965400
|
|
NM_022124.6(CDH23):c.778G>T (p.Ala260Ser)
|
rs373294595
|
|
NM_022124.6(CDH23):c.7849G>C (p.Gly2617Arg)
|
rs369379727
|
|
NM_022124.6(CDH23):c.8498G>A (p.Arg2833His)
|
rs534575559
|
|
NM_022124.6(CDH23):c.9700del (p.Val3234fs)
|
|
|
NM_022124.6(CDH23):c.9726del (p.Ser3243fs)
|
rs767176528
|
|
NM_022162.3(NOD2):c.3019dup (p.Leu1007fs)
|
rs2066847
|
|
NM_022168.4(IFIH1):c.1001G>T (p.Gly334Val)
|
rs2105208967
|
|
NM_022168.4(IFIH1):c.1013T>C (p.Val338Ala)
|
|
|
NM_022168.4(IFIH1):c.1015G>A (p.Ala339Thr)
|
rs1314541924
|
|
NM_022168.4(IFIH1):c.1024A>G (p.Ile342Val)
|
|
|
NM_022168.4(IFIH1):c.103C>G (p.Leu35Val)
|
|
|
NM_022168.4(IFIH1):c.1046A>T (p.Lys349Met)
|
rs72650664
|
|
NM_022168.4(IFIH1):c.1057G>A (p.Ala353Thr)
|
rs762847175
|
|
NM_022168.4(IFIH1):c.1063G>A (p.Glu355Lys)
|
rs887114201
|
|
NM_022168.4(IFIH1):c.1063G>T (p.Glu355Ter)
|
rs887114201
|
|
NM_022168.4(IFIH1):c.1069G>A (p.Gly357Arg)
|
|
|
NM_022168.4(IFIH1):c.1070G>A (p.Gly357Glu)
|
|
|
NM_022168.4(IFIH1):c.1075G>C (p.Val359Leu)
|
|
|
NM_022168.4(IFIH1):c.1075G>T (p.Val359Phe)
|
|
|
NM_022168.4(IFIH1):c.1081G>A (p.Val361Ile)
|
|
|
NM_022168.4(IFIH1):c.1084C>G (p.Leu362Val)
|
|
|
NM_022168.4(IFIH1):c.1085T>C (p.Leu362Pro)
|
|
|
NM_022168.4(IFIH1):c.1091A>G (p.Asn364Ser)
|
rs1410059196
|
|
NM_022168.4(IFIH1):c.1095+1G>A
|
rs140125523
|
|
NM_022168.4(IFIH1):c.1095+1G>T
|
rs140125523
|
|
NM_022168.4(IFIH1):c.1095+4T>C
|
|
|
NM_022168.4(IFIH1):c.1099C>G (p.Leu367Val)
|
|
|
NM_022168.4(IFIH1):c.1114C>G (p.Leu372Val)
|
rs587777576
|
|
NM_022168.4(IFIH1):c.1118T>C (p.Phe373Ser)
|
rs2105203313
|
|
NM_022168.4(IFIH1):c.1121G>T (p.Arg374Leu)
|
rs145520044
|
|
NM_022168.4(IFIH1):c.1133A>G (p.Gln378Arg)
|
rs1682830281
|
|
NM_022168.4(IFIH1):c.1150T>C (p.Trp384Arg)
|
|
|
NM_022168.4(IFIH1):c.1151G>C (p.Trp384Ser)
|
rs752544919
|
|
NM_022168.4(IFIH1):c.1151G>T (p.Trp384Leu)
|
|
|
NM_022168.4(IFIH1):c.1153T>C (p.Tyr385His)
|
rs1682829536
|
|
NM_022168.4(IFIH1):c.1156C>T (p.Arg386Cys)
|
|
|
NM_022168.4(IFIH1):c.1157G>T (p.Arg386Leu)
|
rs138611889
|
|
NM_022168.4(IFIH1):c.1159G>A (p.Val387Ile)
|
rs374766201
|
|
NM_022168.4(IFIH1):c.1159G>T (p.Val387Phe)
|
|
|
NM_022168.4(IFIH1):c.1169T>G (p.Leu390Ter)
|
rs2105203236
|
|
NM_022168.4(IFIH1):c.1175G>A (p.Gly392Asp)
|
rs1304955037
|
|
NM_022168.4(IFIH1):c.1181C>A (p.Thr394Asn)
|
|
|
NM_022168.4(IFIH1):c.1191A>G (p.Lys397=)
|
rs1682828092
|
|
NM_022168.4(IFIH1):c.1194A>G (p.Ile398Met)
|
|
|
NM_022168.4(IFIH1):c.1196C>G (p.Ser399Ter)
|
rs772585139
|
|
NM_022168.4(IFIH1):c.1200T>A (p.Phe400Leu)
|
|
|
NM_022168.4(IFIH1):c.1207G>A (p.Val403Ile)
|
|
|
NM_022168.4(IFIH1):c.1208T>C (p.Val403Ala)
|
|
|
NM_022168.4(IFIH1):c.1211T>C (p.Val404Ala)
|
rs111797285
|
|
NM_022168.4(IFIH1):c.1220G>A (p.Cys407Tyr)
|
|
|
NM_022168.4(IFIH1):c.1229T>C (p.Ile410Thr)
|
rs746025085
|
|
NM_022168.4(IFIH1):c.1232T>C (p.Ile411Thr)
|
rs1682827216
|
|
NM_022168.4(IFIH1):c.1238C>T (p.Thr413Ile)
|
|
|
NM_022168.4(IFIH1):c.1250T>A (p.Leu417His)
|
|
|
NM_022168.4(IFIH1):c.1261C>T (p.Leu421Phe)
|
|
|
NM_022168.4(IFIH1):c.1270T>G (p.Leu424Val)
|
rs762510649
|
|
NM_022168.4(IFIH1):c.1271del (p.Leu424fs)
|
rs1180019447
|
|
NM_022168.4(IFIH1):c.1288G>T (p.Ala430Ser)
|
rs2105203031
|
|
NM_022168.4(IFIH1):c.1303T>A (p.Ser435Thr)
|
rs1682826089
|
|
NM_022168.4(IFIH1):c.1306+6T>C
|
rs2105202990
|
|
NM_022168.4(IFIH1):c.1321A>G (p.Ile441Val)
|
rs2105202129
|
|
NM_022168.4(IFIH1):c.1321A>T (p.Ile441Phe)
|
|
|
NM_022168.4(IFIH1):c.1322T>C (p.Ile441Thr)
|
|
|
NM_022168.4(IFIH1):c.1324A>G (p.Ile442Val)
|
|
|
NM_022168.4(IFIH1):c.1342_1343del (p.Thr448fs)
|
|
|
NM_022168.4(IFIH1):c.1343C>T (p.Thr448Ile)
|
rs1576226711
|
|
NM_022168.4(IFIH1):c.1345A>C (p.Asn449His)
|
|
|
NM_022168.4(IFIH1):c.1353A>C (p.Glu451Asp)
|
rs764763183
|
|
NM_022168.4(IFIH1):c.1355C>A (p.Ala452Glu)
|
rs147642994
|
|
NM_022168.4(IFIH1):c.1357G>A (p.Val453Met)
|
rs367921237
|
|
NM_022168.4(IFIH1):c.1368C>G (p.Asn456Lys)
|
rs1682808224
|
|
NM_022168.4(IFIH1):c.1378_1379inv (p.His460Cys)
|
|
|
NM_022168.4(IFIH1):c.1380T>A (p.His460Gln)
|
|
|
NM_022168.4(IFIH1):c.1384T>G (p.Leu462Val)
|
rs2105201962
|
|
NM_022168.4(IFIH1):c.1387A>T (p.Met463Leu)
|
rs1247355630
|
|
NM_022168.4(IFIH1):c.1388T>G (p.Met463Arg)
|
|
|
NM_022168.4(IFIH1):c.138T>G (p.Ile46Met)
|
|
|
NM_022168.4(IFIH1):c.1405A>G (p.Asn469Asp)
|
|
|
NM_022168.4(IFIH1):c.1406A>G (p.Asn469Ser)
|
|
|
NM_022168.4(IFIH1):c.1407_1417del (p.Asn469fs)
|
|
|
NM_022168.4(IFIH1):c.1419del (p.Glu474fs)
|
rs2105201912
|
|
NM_022168.4(IFIH1):c.1431_1439del (p.Val478_Pro480del)
|
|
|
NM_022168.4(IFIH1):c.1432G>A (p.Val478Met)
|
rs1018712289
|
|
NM_022168.4(IFIH1):c.1439C>A (p.Pro480His)
|
rs753401995
|
|
NM_022168.4(IFIH1):c.1449G>C (p.Gln483His)
|
|
|
NM_022168.4(IFIH1):c.1457G>A (p.Gly486Glu)
|
|
|
NM_022168.4(IFIH1):c.1463C>G (p.Thr488Arg)
|
|
|
NM_022168.4(IFIH1):c.1471C>T (p.Pro491Ser)
|
|
|
NM_022168.4(IFIH1):c.1475G>A (p.Gly492Asp)
|
rs1474848285
|
|
NM_022168.4(IFIH1):c.1480G>A (p.Gly494Arg)
|
rs1682805179
|
|
NM_022168.4(IFIH1):c.1483G>C (p.Gly495Arg)
|
|
|
NM_022168.4(IFIH1):c.1484G>C (p.Gly495Ala)
|
|
|
NM_022168.4(IFIH1):c.1487C>A (p.Ala496Asp)
|
|
|
NM_022168.4(IFIH1):c.148G>T (p.Val50Phe)
|
|
|
NM_022168.4(IFIH1):c.1499C>G (p.Ala500Gly)
|
|
|
NM_022168.4(IFIH1):c.149T>G (p.Val50Gly)
|
|
|
NM_022168.4(IFIH1):c.14A>C (p.Tyr5Ser)
|
rs1485039163
|
|
NM_022168.4(IFIH1):c.14A>G (p.Tyr5Cys)
|
|
|
NM_022168.4(IFIH1):c.14_15del (p.Tyr5fs)
|
|
|
NM_022168.4(IFIH1):c.1510G>A (p.Glu504Lys)
|
rs772032662
|
|
NM_022168.4(IFIH1):c.1513C>T (p.His505Tyr)
|
|
|
NM_022168.4(IFIH1):c.1515C>G (p.His505Gln)
|
rs147738489
|
|
NM_022168.4(IFIH1):c.1517T>A (p.Ile506Asn)
|
rs1320095792
|
|
NM_022168.4(IFIH1):c.1524+1G>T
|
rs898118498
|
|
NM_022168.4(IFIH1):c.1524+2T>G
|
rs865898522
|
|
NM_022168.4(IFIH1):c.1524+5G>A
|
|
|
NM_022168.4(IFIH1):c.1524+5G>C
|
|
|
NM_022168.4(IFIH1):c.1525C>T (p.Leu509=)
|
rs2105200537
|
|
NM_022168.4(IFIH1):c.1526T>G (p.Leu509Arg)
|
rs770811079
|
|
NM_022168.4(IFIH1):c.1528T>C (p.Cys510Arg)
|
rs1576226013
|
|
NM_022168.4(IFIH1):c.1534A>C (p.Asn512His)
|
rs2105200526
|
|
NM_022168.4(IFIH1):c.1534A>G (p.Asn512Asp)
|
|
|
NM_022168.4(IFIH1):c.1535A>G (p.Asn512Ser)
|
rs370753836
|
|
NM_022168.4(IFIH1):c.1540G>C (p.Asp514His)
|
|
|
NM_022168.4(IFIH1):c.1550C>T (p.Thr517Ile)
|
rs2105200508
|
|
NM_022168.4(IFIH1):c.1555A>C (p.Lys519Gln)
|
|
|
NM_022168.4(IFIH1):c.1562T>C (p.Val521Ala)
|
rs2105200485
|
|
NM_022168.4(IFIH1):c.1567G>C (p.Glu523Gln)
|
|
|
NM_022168.4(IFIH1):c.1572C>A (p.Asn524Lys)
|
|
|
NM_022168.4(IFIH1):c.1579C>A (p.Gln527Lys)
|
|
|
NM_022168.4(IFIH1):c.1583T>C (p.Leu528Pro)
|
|
|
NM_022168.4(IFIH1):c.1589del (p.Asn530fs)
|
rs779192156
|
|
NM_022168.4(IFIH1):c.1592A>G (p.Gln531Arg)
|
|
|
NM_022168.4(IFIH1):c.1603C>A (p.Pro535Thr)
|
rs764183171
|
|
NM_022168.4(IFIH1):c.1603C>T (p.Pro535Ser)
|
rs764183171
|
|
NM_022168.4(IFIH1):c.1616T>C (p.Phe539Ser)
|
|
|
NM_022168.4(IFIH1):c.1627G>T (p.Asp543Tyr)
|
|
|
NM_022168.4(IFIH1):c.1628A>G (p.Asp543Gly)
|
|
|
NM_022168.4(IFIH1):c.162del (p.Asn55fs)
|
|
|
NM_022168.4(IFIH1):c.1641+16T>A
|
|
|
NM_022168.4(IFIH1):c.1641+1G>A
|
|
|
NM_022168.4(IFIH1):c.1641+3A>G
|
|
|
NM_022168.4(IFIH1):c.1642-1G>A
|
rs1682743875
|
|
NM_022168.4(IFIH1):c.1650T>A (p.Phe550Leu)
|
|
|
NM_022168.4(IFIH1):c.1652A>C (p.Lys551Thr)
|
|
|
NM_022168.4(IFIH1):c.1653_1665del (p.Glu552fs)
|
|
|
NM_022168.4(IFIH1):c.1654G>A (p.Glu552Lys)
|
rs1193030860
|
|
NM_022168.4(IFIH1):c.1666G>A (p.Glu556Lys)
|
rs111732322
|
|
NM_022168.4(IFIH1):c.1674G>A (p.Met558Ile)
|
|
|
NM_022168.4(IFIH1):c.1675A>C (p.Thr559Pro)
|
rs752832328
|
|
NM_022168.4(IFIH1):c.1679G>A (p.Arg560Lys)
|
|
|
NM_022168.4(IFIH1):c.1687A>T (p.Thr563Ser)
|
rs2105198654
|
|
NM_022168.4(IFIH1):c.1689_1690del (p.Tyr564fs)
|
rs1464362256
|
|
NM_022168.4(IFIH1):c.1704del (p.Pro569fs)
|
rs1558866398
|
|
NM_022168.4(IFIH1):c.1724C>T (p.Thr575Ile)
|
|
|
NM_022168.4(IFIH1):c.1726C>T (p.Gln576Ter)
|
rs2105198568
|
|
NM_022168.4(IFIH1):c.1744G>A (p.Ala582Thr)
|
|
|
NM_022168.4(IFIH1):c.1751A>T (p.Gln584Leu)
|
|
|
NM_022168.4(IFIH1):c.1756G>C (p.Glu586Gln)
|
|
|
NM_022168.4(IFIH1):c.1762A>C (p.Lys588Gln)
|
|
|
NM_022168.4(IFIH1):c.1764del (p.Ala589fs)
|
rs553669430
|
|
NM_022168.4(IFIH1):c.1765+1del
|
rs1227440828
|
|
NM_022168.4(IFIH1):c.1765+2T>C
|
|
|
NM_022168.4(IFIH1):c.1765+5T>G
|
rs1682738622
|
|
NM_022168.4(IFIH1):c.1766C>T (p.Ala589Val)
|
|
|
NM_022168.4(IFIH1):c.1769C>G (p.Ala590Gly)
|
rs768993250
|
|
NM_022168.4(IFIH1):c.1769C>T (p.Ala590Val)
|
|
|
NM_022168.4(IFIH1):c.1774G>A (p.Glu592Lys)
|
|
|
NM_022168.4(IFIH1):c.1783C>A (p.Arg595Ser)
|
|
|
NM_022168.4(IFIH1):c.1783C>T (p.Arg595Cys)
|
rs191839015
|
|
NM_022168.4(IFIH1):c.1787A>G (p.Lys596Arg)
|
|
|
NM_022168.4(IFIH1):c.1789G>A (p.Glu597Lys)
|
rs963903258
|
|
NM_022168.4(IFIH1):c.1789G>C (p.Glu597Gln)
|
|
|
NM_022168.4(IFIH1):c.1792C>T (p.Arg598Cys)
|
|
|
NM_022168.4(IFIH1):c.1801G>A (p.Ala601Thr)
|
|
|
NM_022168.4(IFIH1):c.1808A>G (p.His603Arg)
|
|
|
NM_022168.4(IFIH1):c.1818G>C (p.Lys606Asn)
|
rs2105197801
|
|
NM_022168.4(IFIH1):c.1819T>C (p.Tyr607His)
|
|
|
NM_022168.4(IFIH1):c.1822_1824del (p.Asn608del)
|
|
|
NM_022168.4(IFIH1):c.1827_1828delinsTA (p.Glu609_Ala610delinsAspThr)
|
|
|
NM_022168.4(IFIH1):c.1829C>A (p.Ala610Asp)
|
|
|
NM_022168.4(IFIH1):c.1837A>G (p.Ile613Val)
|
rs1235926337
|
|
NM_022168.4(IFIH1):c.1844A>G (p.Asp615Gly)
|
|
|
NM_022168.4(IFIH1):c.1846A>C (p.Thr616Pro)
|
|
|
NM_022168.4(IFIH1):c.1847C>T (p.Thr616Ile)
|
|
|
NM_022168.4(IFIH1):c.1861G>T (p.Asp621Tyr)
|
|
|
NM_022168.4(IFIH1):c.1862A>T (p.Asp621Val)
|
|
|
NM_022168.4(IFIH1):c.1864G>A (p.Ala622Thr)
|
|
|
NM_022168.4(IFIH1):c.1865C>A (p.Ala622Glu)
|
|
|
NM_022168.4(IFIH1):c.1876C>G (p.Leu626Val)
|
|
|
NM_022168.4(IFIH1):c.1885T>C (p.Phe629Leu)
|
rs145818112
|
|
NM_022168.4(IFIH1):c.1894G>A (p.Glu632Lys)
|
|
|
NM_022168.4(IFIH1):c.1912T>A (p.Phe638Ile)
|
rs1682719356
|
|
NM_022168.4(IFIH1):c.1922_1923del (p.Ile641fs)
|
rs2105197614
|
|
NM_022168.4(IFIH1):c.1928A>T (p.Asp643Val)
|
|
|
NM_022168.4(IFIH1):c.1934G>C (p.Ser645Thr)
|
|
|
NM_022168.4(IFIH1):c.1936G>A (p.Asp646Asn)
|
|
|
NM_022168.4(IFIH1):c.1936G>C (p.Asp646His)
|
|
|
NM_022168.4(IFIH1):c.193A>C (p.Thr65Pro)
|
|
|
NM_022168.4(IFIH1):c.1940A>G (p.Glu647Gly)
|
|
|
NM_022168.4(IFIH1):c.1943del (p.Gly648fs)
|
rs751231371
|
|
NM_022168.4(IFIH1):c.1949A>G (p.Asp650Gly)
|
|
|
NM_022168.4(IFIH1):c.194C>G (p.Thr65Ser)
|
|
|
NM_022168.4(IFIH1):c.194C>T (p.Thr65Ile)
|
|
|
NM_022168.4(IFIH1):c.1962T>G (p.Cys654Trp)
|
rs1682717892
|
|
NM_022168.4(IFIH1):c.1976A>C (p.Asp659Ala)
|
rs2105197504
|
|
NM_022168.4(IFIH1):c.1981G>A (p.Asp661Asn)
|
rs2105197482
|
|
NM_022168.4(IFIH1):c.1990A>C (p.Lys664Gln)
|
|
|
NM_022168.4(IFIH1):c.1992G>T (p.Lys664Asn)
|
rs2105197453
|
|
NM_022168.4(IFIH1):c.1996C>G (p.Pro666Ala)
|
|
|
NM_022168.4(IFIH1):c.199G>C (p.Glu67Gln)
|
rs2105238398
|
|
NM_022168.4(IFIH1):c.19A>G (p.Thr7Ala)
|
|
|
NM_022168.4(IFIH1):c.2006T>G (p.Leu669Arg)
|
|
|
NM_022168.4(IFIH1):c.2008G>A (p.Asp670Asn)
|
rs370203250
|
|
NM_022168.4(IFIH1):c.2012A>G (p.Glu671Gly)
|
rs1682715644
|
|
NM_022168.4(IFIH1):c.2019_2020del (p.Asp673fs)
|
rs2105197403
|
|
NM_022168.4(IFIH1):c.201G>T (p.Glu67Asp)
|
rs2105238393
|
|
NM_022168.4(IFIH1):c.2021G>A (p.Arg674Lys)
|
|
|
NM_022168.4(IFIH1):c.2021G>C (p.Arg674Thr)
|
rs758006242
|
|
NM_022168.4(IFIH1):c.2022A>G (p.Arg674=)
|
|
|
NM_022168.4(IFIH1):c.2026C>G (p.Leu676Val)
|
rs1682712829
|
|
NM_022168.4(IFIH1):c.2030T>C (p.Met677Thr)
|
rs1268091953
|
|
NM_022168.4(IFIH1):c.2035_2036del (p.Leu679fs)
|
rs774076578
|
|
NM_022168.4(IFIH1):c.2037_2042dup (p.Phe680_Phe681insLeuPhe)
|
|
|
NM_022168.4(IFIH1):c.2044+12A>G
|
|
|
NM_022168.4(IFIH1):c.2045-1G>T
|
rs748813106
|
|
NM_022168.4(IFIH1):c.2046A>C (p.Glu682Asp)
|
|
|
NM_022168.4(IFIH1):c.2056A>G (p.Met686Val)
|
|
|
NM_022168.4(IFIH1):c.2061G>T (p.Leu687Phe)
|
|
|
NM_022168.4(IFIH1):c.2066G>A (p.Arg689Lys)
|
|
|
NM_022168.4(IFIH1):c.2068del (p.Leu690fs)
|
|
|
NM_022168.4(IFIH1):c.2072C>A (p.Ala691Asp)
|
|
|
NM_022168.4(IFIH1):c.2072C>T (p.Ala691Val)
|
|
|
NM_022168.4(IFIH1):c.2092_2304+447del
|
|
|
NM_022168.4(IFIH1):c.2101del (p.Lys700_Leu701insTer)
|
rs1682679223
|
|
NM_022168.4(IFIH1):c.2102T>A (p.Leu701Gln)
|
|
|
NM_022168.4(IFIH1):c.2111dup (p.Leu704fs)
|
|
|
NM_022168.4(IFIH1):c.2113A>G (p.Arg705Gly)
|
|
|
NM_022168.4(IFIH1):c.2120C>A (p.Thr707Asn)
|
rs2105196747
|
|
NM_022168.4(IFIH1):c.2127G>A (p.Met709Ile)
|
|
|
NM_022168.4(IFIH1):c.2140A>G (p.Arg714Gly)
|
|
|
NM_022168.4(IFIH1):c.2150A>G (p.Glu717Gly)
|
|
|
NM_022168.4(IFIH1):c.2152T>C (p.Ser718Pro)
|
rs2105196679
|
|
NM_022168.4(IFIH1):c.2158C>G (p.Arg720Gly)
|
rs761864966
|
|
NM_022168.4(IFIH1):c.2158C>T (p.Arg720Ter)
|
|
|
NM_022168.4(IFIH1):c.2159G>T (p.Arg720Leu)
|
|
|
NM_022168.4(IFIH1):c.2161G>C (p.Gly721Arg)
|
rs2105196666
|
|
NM_022168.4(IFIH1):c.216C>A (p.His72Gln)
|
rs774025268
|
|
NM_022168.4(IFIH1):c.216C>G (p.His72Gln)
|
rs774025268
|
|
NM_022168.4(IFIH1):c.2189G>A (p.Ser730Asn)
|
rs375745122
|
|
NM_022168.4(IFIH1):c.2189G>C (p.Ser730Thr)
|
|
|
NM_022168.4(IFIH1):c.2191G>A (p.Ala731Thr)
|
|
|
NM_022168.4(IFIH1):c.2196T>A (p.Tyr732Ter)
|
|
|
NM_022168.4(IFIH1):c.2200C>T (p.Leu734Phe)
|
|
|
NM_022168.4(IFIH1):c.2203T>G (p.Ser735Ala)
|
rs1268036060
|
|
NM_022168.4(IFIH1):c.220G>C (p.Gly74Arg)
|
rs1683544639
|
|
NM_022168.4(IFIH1):c.2212A>G (p.Ile738Val)
|
|
|
NM_022168.4(IFIH1):c.2216_2222del (p.Thr739fs)
|
rs745948096
|
|
NM_022168.4(IFIH1):c.221G>A (p.Gly74Asp)
|
rs765738865
|
|
NM_022168.4(IFIH1):c.2223T>A (p.Asn741Lys)
|
|
|
NM_022168.4(IFIH1):c.2231T>G (p.Phe744Cys)
|
|
|
NM_022168.4(IFIH1):c.223T>A (p.Trp75Arg)
|
rs750844573
|
|
NM_022168.4(IFIH1):c.224G>C (p.Trp75Ser)
|
|
|
NM_022168.4(IFIH1):c.2257C>T (p.His753Tyr)
|
|
|
NM_022168.4(IFIH1):c.2259T>G (p.His753Gln)
|
rs1682675340
|
|
NM_022168.4(IFIH1):c.2261T>A (p.Leu754Gln)
|
|
|
NM_022168.4(IFIH1):c.226A>T (p.Thr76Ser)
|
rs957068367
|
|
NM_022168.4(IFIH1):c.2277C>A (p.His759Gln)
|
|
|
NM_022168.4(IFIH1):c.227C>T (p.Thr76Ile)
|
|
|
NM_022168.4(IFIH1):c.2280del (p.Ser760fs)
|
|
|
NM_022168.4(IFIH1):c.2286G>C (p.Glu762Asp)
|
|
|
NM_022168.4(IFIH1):c.2287T>C (p.Phe763Leu)
|
|
|
NM_022168.4(IFIH1):c.2299A>G (p.Thr767Ala)
|
rs766399254
|
|
NM_022168.4(IFIH1):c.229C>T (p.Arg77Trp)
|
rs147278787
|
|
NM_022168.4(IFIH1):c.2300C>T (p.Thr767Ile)
|
rs2105196465
|
|
NM_022168.4(IFIH1):c.2304+1G>T
|
rs762865950
|
|
NM_022168.4(IFIH1):c.2304G>A (p.Gln768=)
|
|
|
NM_022168.4(IFIH1):c.2305-3C>T
|
rs2105193842
|
|
NM_022168.4(IFIH1):c.230G>C (p.Arg77Pro)
|
rs367851471
|
|
NM_022168.4(IFIH1):c.2315AAG[1] (p.Glu773del)
|
|
|
NM_022168.4(IFIH1):c.2321_2323delinsGTT (p.Val774_Ile775delinsGlyPhe)
|
rs2105193797
|
|
NM_022168.4(IFIH1):c.2323A>G (p.Ile775Val)
|
rs1691096839
|
|
NM_022168.4(IFIH1):c.2324_2326del (p.Ile775del)
|
rs2105193787
|
|
NM_022168.4(IFIH1):c.2339C>G (p.Thr780Ser)
|
|
|
NM_022168.4(IFIH1):c.2345A>G (p.Lys782Arg)
|
rs2105193747
|
|
NM_022168.4(IFIH1):c.2351A>G (p.Asn784Ser)
|
|
|
NM_022168.4(IFIH1):c.2372T>C (p.Val791Ala)
|
rs2105193712
|
|
NM_022168.4(IFIH1):c.238G>A (p.Val80Met)
|
|
|
NM_022168.4(IFIH1):c.2400A>C (p.Glu800Asp)
|
|
|
NM_022168.4(IFIH1):c.2402G>A (p.Cys801Tyr)
|
rs1576222807
|
|
NM_022168.4(IFIH1):c.2407A>C (p.Ile803Leu)
|
|
|
NM_022168.4(IFIH1):c.2408T>C (p.Ile803Thr)
|
rs778884536
|
|
NM_022168.4(IFIH1):c.2413A>G (p.Ile805Val)
|
|
|
NM_022168.4(IFIH1):c.2413A>T (p.Ile805Phe)
|
rs1691095136
|
|
NM_022168.4(IFIH1):c.2415C>G (p.Ile805Met)
|
rs1010120295
|
|
NM_022168.4(IFIH1):c.241G>A (p.Glu81Lys)
|
rs2105238289
|
|
NM_022168.4(IFIH1):c.2420A>G (p.Tyr807Cys)
|
rs752226580
|
|
NM_022168.4(IFIH1):c.2426T>C (p.Leu809Pro)
|
|
|
NM_022168.4(IFIH1):c.2429T>A (p.Val810Asp)
|
|
|
NM_022168.4(IFIH1):c.242A>C (p.Glu81Ala)
|
rs1168844368
|
|
NM_022168.4(IFIH1):c.2443G>A (p.Ala815Thr)
|
|
|
NM_022168.4(IFIH1):c.2449G>A (p.Val817Ile)
|
|
|
NM_022168.4(IFIH1):c.2454+1G>T
|
rs778780074
|
|
NM_022168.4(IFIH1):c.2454+4C>A
|
|
|
NM_022168.4(IFIH1):c.2454+4C>G
|
|
|
NM_022168.4(IFIH1):c.2454+6T>G
|
|
|
NM_022168.4(IFIH1):c.2454G>A (p.Gln818=)
|
|
|
NM_022168.4(IFIH1):c.2455-1G>A
|
|
|
NM_022168.4(IFIH1):c.2455-6T>A
|
rs2105192046
|
|
NM_022168.4(IFIH1):c.2459G>C (p.Arg820Pro)
|
rs74162087
|
|
NM_022168.4(IFIH1):c.2459G>T (p.Arg820Leu)
|
rs74162087
|
|
NM_022168.4(IFIH1):c.247C>T (p.Leu83Phe)
|
|
|
NM_022168.4(IFIH1):c.2481G>C (p.Glu827Asp)
|
|
|
NM_022168.4(IFIH1):c.2483G>T (p.Ser828Ile)
|
|
|
NM_022168.4(IFIH1):c.2485A>C (p.Thr829Pro)
|
|
|
NM_022168.4(IFIH1):c.250C>G (p.Arg84Gly)
|
|
|
NM_022168.4(IFIH1):c.2515G>C (p.Gly839Arg)
|
|
|
NM_022168.4(IFIH1):c.2525A>T (p.Glu842Val)
|
|
|
NM_022168.4(IFIH1):c.2527_2528inv (p.His843Cys)
|
|
|
NM_022168.4(IFIH1):c.2530G>C (p.Glu844Gln)
|
|
|
NM_022168.4(IFIH1):c.2542G>A (p.Asp848Asn)
|
|
|
NM_022168.4(IFIH1):c.2549G>C (p.Arg850Pro)
|
rs370618144
|
|
NM_022168.4(IFIH1):c.2558T>C (p.Met853Thr)
|
rs1691055209
|
|
NM_022168.4(IFIH1):c.2560A>T (p.Met854Leu)
|
|
|
NM_022168.4(IFIH1):c.2569G>A (p.Ala857Thr)
|
rs768238624
|
|
NM_022168.4(IFIH1):c.2569G>C (p.Ala857Pro)
|
|
|
NM_022168.4(IFIH1):c.2574A>G (p.Ile858Met)
|
|
|
NM_022168.4(IFIH1):c.2575C>G (p.His859Asp)
|
rs373382295
|
|
NM_022168.4(IFIH1):c.2576A>G (p.His859Arg)
|
|
|
NM_022168.4(IFIH1):c.257C>T (p.Thr86Ile)
|
rs2105238259
|
|
NM_022168.4(IFIH1):c.2581del (p.Val861fs)
|
|
|
NM_022168.4(IFIH1):c.2587A>G (p.Asn863Asp)
|
|
|
NM_022168.4(IFIH1):c.2591T>C (p.Met864Thr)
|
|
|
NM_022168.4(IFIH1):c.2596C>T (p.Pro866Ser)
|
|
|
NM_022168.4(IFIH1):c.259G>A (p.Gly87Ser)
|
|
|
NM_022168.4(IFIH1):c.2601G>C (p.Glu867Asp)
|
rs764489663
|
|
NM_022168.4(IFIH1):c.2604G>C (p.Glu868Asp)
|
rs760907862
|
|
NM_022168.4(IFIH1):c.2609C>T (p.Ala870Val)
|
|
|
NM_022168.4(IFIH1):c.2614A>C (p.Lys872Gln)
|
|
|
NM_022168.4(IFIH1):c.2616+3A>T
|
|
|
NM_022168.4(IFIH1):c.2616+6G>A
|
rs761784724
|
|
NM_022168.4(IFIH1):c.2616G>C (p.Lys872Asn)
|
|
|
NM_022168.4(IFIH1):c.2617-1G>T
|
|
|
NM_022168.4(IFIH1):c.2618T>G (p.Ile873Ser)
|
|
|
NM_022168.4(IFIH1):c.2623G>A (p.Glu875Lys)
|
|
|
NM_022168.4(IFIH1):c.2635C>T (p.Gln879Ter)
|
rs1559809132
|
|
NM_022168.4(IFIH1):c.2639G>T (p.Ser880Ile)
|
|
|
NM_022168.4(IFIH1):c.2641A>G (p.Ile881Val)
|
rs1169761887
|
|
NM_022168.4(IFIH1):c.2644A>C (p.Met882Leu)
|
rs2105187946
|
|
NM_022168.4(IFIH1):c.2652G>T (p.Lys884Asn)
|
|
|
NM_022168.4(IFIH1):c.2658G>A (p.Met886Ile)
|
rs2105187934
|
|
NM_022168.4(IFIH1):c.2665A>T (p.Lys889Ter)
|
rs1252022173
|
|
NM_022168.4(IFIH1):c.2687A>C (p.Tyr896Ser)
|
|
|
NM_022168.4(IFIH1):c.2689A>C (p.Lys897Gln)
|
|
|
NM_022168.4(IFIH1):c.2707A>T (p.Ile903Leu)
|
|
|
NM_022168.4(IFIH1):c.2713T>C (p.Phe905Leu)
|
|
|
NM_022168.4(IFIH1):c.2716C>T (p.Leu906Phe)
|
rs1690962431
|
|
NM_022168.4(IFIH1):c.2723A>T (p.Lys908Ile)
|
rs1690962335
|
|
NM_022168.4(IFIH1):c.2728T>A (p.Cys910Ser)
|
|
|
NM_022168.4(IFIH1):c.2734G>C (p.Val912Leu)
|
rs763049591
|
|
NM_022168.4(IFIH1):c.2744G>A (p.Cys915Tyr)
|
|
|
NM_022168.4(IFIH1):c.2755G>T (p.Asp919Tyr)
|
|
|
NM_022168.4(IFIH1):c.2759T>C (p.Ile920Thr)
|
rs748895438
|
|
NM_022168.4(IFIH1):c.275C>T (p.Ala92Val)
|
rs2105238199
|
|
NM_022168.4(IFIH1):c.2770G>A (p.Glu924Lys)
|
rs2105187737
|
|
NM_022168.4(IFIH1):c.2771A>G (p.Glu924Gly)
|
rs1690960964
|
|
NM_022168.4(IFIH1):c.2777T>C (p.Met926Thr)
|
|
|
NM_022168.4(IFIH1):c.2778G>A (p.Met926Ile)
|
|
|
NM_022168.4(IFIH1):c.277C>G (p.Arg93Gly)
|
rs947699715
|
|
NM_022168.4(IFIH1):c.2780A>T (p.His927Leu)
|
rs747311719
|
|
NM_022168.4(IFIH1):c.2783_2784delinsG (p.His928fs)
|
|
|
NM_022168.4(IFIH1):c.2788A>G (p.Asn930Asp)
|
rs374202040
|
|
NM_022168.4(IFIH1):c.2789A>G (p.Asn930Ser)
|
|
|
NM_022168.4(IFIH1):c.2793G>A (p.Met931Ile)
|
rs1576220013
|
|
NM_022168.4(IFIH1):c.2795C>A (p.Thr932Asn)
|
|
|
NM_022168.4(IFIH1):c.2798del (p.Pro933fs)
|
|
|
NM_022168.4(IFIH1):c.2800G>A (p.Glu934Lys)
|
|
|
NM_022168.4(IFIH1):c.2810A>G (p.Glu937Gly)
|
|
|
NM_022168.4(IFIH1):c.2812C>G (p.Leu938Val)
|
rs2105187108
|
|
NM_022168.4(IFIH1):c.2812del (p.Leu938fs)
|
rs2105187112
|
|
NM_022168.4(IFIH1):c.2816del (p.Tyr939fs)
|
|
|
NM_022168.4(IFIH1):c.2818A>T (p.Ile940Phe)
|
|
|
NM_022168.4(IFIH1):c.2820T>G (p.Ile940Met)
|
rs2105187091
|
|
NM_022168.4(IFIH1):c.2827G>T (p.Glu943Ter)
|
rs2105187079
|
|
NM_022168.4(IFIH1):c.2832C>G (p.Asn944Lys)
|
|
|
NM_022168.4(IFIH1):c.2832del (p.Asn944fs)
|
|
|
NM_022168.4(IFIH1):c.2847G>C (p.Lys949Asn)
|
|
|
NM_022168.4(IFIH1):c.284T>C (p.Met95Thr)
|
rs769741397
|
|
NM_022168.4(IFIH1):c.2850G>T (p.Lys950Asn)
|
rs2105187036
|
|
NM_022168.4(IFIH1):c.2859C>G (p.Asp953Glu)
|
|
|
NM_022168.4(IFIH1):c.285G>A (p.Met95Ile)
|
rs748006043
|
|
NM_022168.4(IFIH1):c.2867T>A (p.Ile956Lys)
|
|
|
NM_022168.4(IFIH1):c.2867T>C (p.Ile956Thr)
|
|
|
NM_022168.4(IFIH1):c.2872G>A (p.Gly958Ser)
|
rs1466752669
|
|
NM_022168.4(IFIH1):c.2884T>C (p.Cys962Arg)
|
rs1559808756
|
|
NM_022168.4(IFIH1):c.2893G>T (p.Gly965Cys)
|
|
|
NM_022168.4(IFIH1):c.2894G>T (p.Gly965Val)
|
rs2105186932
|
|
NM_022168.4(IFIH1):c.2898+4A>G
|
|
|
NM_022168.4(IFIH1):c.2898G>C (p.Gln966His)
|
|
|
NM_022168.4(IFIH1):c.2899G>A (p.Ala967Thr)
|
|
|
NM_022168.4(IFIH1):c.2899G>C (p.Ala967Pro)
|
|
|
NM_022168.4(IFIH1):c.289C>A (p.Pro97Thr)
|
|
|
NM_022168.4(IFIH1):c.2903G>A (p.Trp968Ter)
|
rs1690944637
|
|
NM_022168.4(IFIH1):c.2914A>C (p.Met972Leu)
|
rs2105186745
|
|
NM_022168.4(IFIH1):c.2922C>G (p.His974Gln)
|
|
|
NM_022168.4(IFIH1):c.2932G>C (p.Asp978His)
|
|
|
NM_022168.4(IFIH1):c.2933_2935dup (p.Asp978_Leu979insTyr)
|
|
|
NM_022168.4(IFIH1):c.2942G>T (p.Cys981Phe)
|
|
|
NM_022168.4(IFIH1):c.2947A>G (p.Lys983Glu)
|
|
|
NM_022168.4(IFIH1):c.2950A>G (p.Ile984Val)
|
|
|
NM_022168.4(IFIH1):c.2952A>G (p.Ile984Met)
|
|
|
NM_022168.4(IFIH1):c.2954G>C (p.Arg985Thr)
|
|
|
NM_022168.4(IFIH1):c.2960T>C (p.Phe987Ser)
|
|
|
NM_022168.4(IFIH1):c.2962G>A (p.Val988Ile)
|
rs74162090
|
|
NM_022168.4(IFIH1):c.296T>C (p.Leu99Pro)
|
rs751197215
|
|
NM_022168.4(IFIH1):c.2973C>A (p.Phe991Leu)
|
rs763358277
|
|
NM_022168.4(IFIH1):c.2978A>C (p.Asn993Thr)
|
rs2105186636
|
|
NM_022168.4(IFIH1):c.2990del (p.Lys997fs)
|
rs2105186622
|
|
NM_022168.4(IFIH1):c.3001A>G (p.Lys1001Glu)
|
|
|
NM_022168.4(IFIH1):c.3003A>C (p.Lys1001Asn)
|
|
|
NM_022168.4(IFIH1):c.3005A>C (p.Lys1002Thr)
|
|
|
NM_022168.4(IFIH1):c.3006G>T (p.Lys1002Asn)
|
|
|
NM_022168.4(IFIH1):c.3025A>G (p.Thr1009Ala)
|
rs1690942148
|
|
NM_022168.4(IFIH1):c.3026C>G (p.Thr1009Arg)
|
|
|
NM_022168.4(IFIH1):c.3042C>G (p.Asp1014Glu)
|
|
|
NM_022168.4(IFIH1):c.3044A>G (p.Tyr1015Cys)
|
|
|
NM_022168.4(IFIH1):c.3050A>G (p.Glu1017Gly)
|
|
|
NM_022168.4(IFIH1):c.3067G>T (p.Asp1023Tyr)
|
rs1559808617
|
|
NM_022168.4(IFIH1):c.310T>G (p.Ser104Ala)
|
|
|
NM_022168.4(IFIH1):c.313_314delinsGA (p.Pro105Glu)
|
|
|
NM_022168.4(IFIH1):c.319T>G (p.Phe107Val)
|
rs1047156211
|
|
NM_022168.4(IFIH1):c.322G>A (p.Glu108Lys)
|
|
|
NM_022168.4(IFIH1):c.32T>C (p.Phe11Ser)
|
rs1355798943
|
|
NM_022168.4(IFIH1):c.332A>G (p.His111Arg)
|
rs2105237997
|
|
NM_022168.4(IFIH1):c.337G>A (p.Glu113Lys)
|
rs1419235573
|
|
NM_022168.4(IFIH1):c.337G>T (p.Glu113Ter)
|
|
|
NM_022168.4(IFIH1):c.340T>A (p.Tyr114Asn)
|
|
|
NM_022168.4(IFIH1):c.343C>T (p.Leu115Phe)
|
|
|
NM_022168.4(IFIH1):c.364C>T (p.Gln122Ter)
|
|
|
NM_022168.4(IFIH1):c.366G>T (p.Gln122His)
|
|
|
NM_022168.4(IFIH1):c.367C>A (p.Pro123Thr)
|
|
|
NM_022168.4(IFIH1):c.367C>T (p.Pro123Ser)
|
rs1683538119
|
|
NM_022168.4(IFIH1):c.36C>G (p.Arg12=)
|
rs1683553380
|
|
NM_022168.4(IFIH1):c.373C>A (p.Leu125Met)
|
rs139219083
|
|
NM_022168.4(IFIH1):c.373C>G (p.Leu125Val)
|
rs139219083
|
|
NM_022168.4(IFIH1):c.384G>C (p.Lys128Asn)
|
|
|
NM_022168.4(IFIH1):c.386T>C (p.Leu129Pro)
|
rs2105237875
|
|
NM_022168.4(IFIH1):c.389T>C (p.Leu130Pro)
|
rs1683537130
|
|
NM_022168.4(IFIH1):c.391G>A (p.Val131Ile)
|
rs2105237866
|
|
NM_022168.4(IFIH1):c.406G>A (p.Asp136Asn)
|
rs1683536418
|
|
NM_022168.4(IFIH1):c.412T>A (p.Cys138Ser)
|
rs759791512
|
|
NM_022168.4(IFIH1):c.413G>T (p.Cys138Phe)
|
|
|
NM_022168.4(IFIH1):c.416T>C (p.Met139Thr)
|
|
|
NM_022168.4(IFIH1):c.418G>T (p.Glu140Ter)
|
rs766508793
|
|
NM_022168.4(IFIH1):c.443A>G (p.Asp148Gly)
|
|
|
NM_022168.4(IFIH1):c.448A>G (p.Asn150Asp)
|
rs2105237729
|
|
NM_022168.4(IFIH1):c.448_453+39del
|
|
|
NM_022168.4(IFIH1):c.454-3C>G
|
rs2105230636
|
|
NM_022168.4(IFIH1):c.454-4A>G
|
rs1683376303
|
|
NM_022168.4(IFIH1):c.456del (p.Ile152fs)
|
rs1683376227
|
|
NM_022168.4(IFIH1):c.457G>T (p.Ala153Ser)
|
rs781431529
|
|
NM_022168.4(IFIH1):c.460G>C (p.Ala154Pro)
|
|
|
NM_022168.4(IFIH1):c.47C>G (p.Ser16Trp)
|
rs372313271
|
|
NM_022168.4(IFIH1):c.487G>A (p.Gly163Ser)
|
rs1007619458
|
|
NM_022168.4(IFIH1):c.496G>C (p.Glu166Gln)
|
|
|
NM_022168.4(IFIH1):c.4T>A (p.Ser2Thr)
|
|
|
NM_022168.4(IFIH1):c.505A>G (p.Lys169Glu)
|
|
|
NM_022168.4(IFIH1):c.510G>C (p.Arg170Ser)
|
rs2105230566
|
|
NM_022168.4(IFIH1):c.511A>C (p.Ile171Leu)
|
|
|
NM_022168.4(IFIH1):c.523G>A (p.Glu175Lys)
|
|
|
NM_022168.4(IFIH1):c.52_262delinsCCTCTG (p.Phe18fs)
|
rs2105238244
|
|
NM_022168.4(IFIH1):c.538G>A (p.Ala180Thr)
|
|
|
NM_022168.4(IFIH1):c.542T>C (p.Phe181Ser)
|
|
|
NM_022168.4(IFIH1):c.54C>G (p.Phe18Leu)
|
|
|
NM_022168.4(IFIH1):c.554T>C (p.Leu185Pro)
|
|
|
NM_022168.4(IFIH1):c.557G>C (p.Arg186Pro)
|
rs189443152
|
|
NM_022168.4(IFIH1):c.574G>A (p.Glu192Lys)
|
|
|
NM_022168.4(IFIH1):c.577C>A (p.Leu193Ile)
|
|
|
NM_022168.4(IFIH1):c.580G>C (p.Val194Leu)
|
rs1553461143
|
|
NM_022168.4(IFIH1):c.584A>G (p.Gln195Arg)
|
rs1558876231
|
|
NM_022168.4(IFIH1):c.592A>G (p.Thr198Ala)
|
rs1683373192
|
|
NM_022168.4(IFIH1):c.596G>T (p.Gly199Val)
|
|
|
NM_022168.4(IFIH1):c.599C>T (p.Ser200Phe)
|
rs2105230439
|
|
NM_022168.4(IFIH1):c.602A>C (p.Asp201Ala)
|
|
|
NM_022168.4(IFIH1):c.614G>A (p.Ser205Asn)
|
|
|
NM_022168.4(IFIH1):c.617A>G (p.Asn206Ser)
|
|
|
NM_022168.4(IFIH1):c.61A>G (p.Arg21Gly)
|
|
|
NM_022168.4(IFIH1):c.622+3A>G
|
|
|
NM_022168.4(IFIH1):c.623-1G>A
|
|
|
NM_022168.4(IFIH1):c.626T>C (p.Ile209Thr)
|
|
|
NM_022168.4(IFIH1):c.629A>C (p.Glu210Ala)
|
|
|
NM_022168.4(IFIH1):c.633T>A (p.Asn211Lys)
|
|
|
NM_022168.4(IFIH1):c.63G>C (p.Arg21Ser)
|
rs553228814
|
|
NM_022168.4(IFIH1):c.646G>A (p.Asp216Asn)
|
|
|
NM_022168.4(IFIH1):c.64G>A (p.Val22Met)
|
|
|
NM_022168.4(IFIH1):c.652C>A (p.Pro218Thr)
|
rs2105226887
|
|
NM_022168.4(IFIH1):c.659T>C (p.Val220Ala)
|
rs1396124415
|
|
NM_022168.4(IFIH1):c.680C>A (p.Thr227Asn)
|
|
|
NM_022168.4(IFIH1):c.699G>A (p.Leu233=)
|
|
|
NM_022168.4(IFIH1):c.703A>G (p.Lys235Glu)
|
|
|
NM_022168.4(IFIH1):c.705G>T (p.Lys235Asn)
|
|
|
NM_022168.4(IFIH1):c.713G>A (p.Trp238Ter)
|
rs1346345254
|
|
NM_022168.4(IFIH1):c.728A>G (p.Asn243Ser)
|
|
|
NM_022168.4(IFIH1):c.730T>A (p.Ser244Thr)
|
rs753380568
|
|
NM_022168.4(IFIH1):c.730T>C (p.Ser244Pro)
|
rs753380568
|
|
NM_022168.4(IFIH1):c.737_739dup (p.Ser247Ter)
|
rs1399614346
|
|
NM_022168.4(IFIH1):c.742T>C (p.Ser248Pro)
|
rs1392840230
|
|
NM_022168.4(IFIH1):c.764T>C (p.Val255Ala)
|
rs771145026
|
|
NM_022168.4(IFIH1):c.766T>G (p.Ser256Ala)
|
|
|
NM_022168.4(IFIH1):c.768A>G (p.Ser256=)
|
|
|
NM_022168.4(IFIH1):c.769+3A>G
|
rs769979161
|
|
NM_022168.4(IFIH1):c.770-10T>C
|
rs1683038128
|
|
NM_022168.4(IFIH1):c.775G>C (p.Asp259His)
|
|
|
NM_022168.4(IFIH1):c.77T>C (p.Ile26Thr)
|
rs1442046271
|
|
NM_022168.4(IFIH1):c.787G>A (p.Ala263Thr)
|
|
|
NM_022168.4(IFIH1):c.78C>G (p.Ile26Met)
|
|
|
NM_022168.4(IFIH1):c.797G>A (p.Ser266Asn)
|
|
|
NM_022168.4(IFIH1):c.797G>C (p.Ser266Thr)
|
|
|
NM_022168.4(IFIH1):c.80A>C (p.Gln27Pro)
|
rs1261297304
|
|
NM_022168.4(IFIH1):c.80A>G (p.Gln27Arg)
|
|
|
NM_022168.4(IFIH1):c.810A>C (p.Leu270Phe)
|
|
|
NM_022168.4(IFIH1):c.811G>T (p.Asp271Tyr)
|
rs544744271
|
|
NM_022168.4(IFIH1):c.828T>A (p.His276Gln)
|
rs2105214711
|
|
NM_022168.4(IFIH1):c.829A>G (p.Asn277Asp)
|
|
|
NM_022168.4(IFIH1):c.841G>T (p.Gly281Cys)
|
|
|
NM_022168.4(IFIH1):c.855_874+1dup
|
|
|
NM_022168.4(IFIH1):c.860T>C (p.Met287Thr)
|
|
|
NM_022168.4(IFIH1):c.863G>T (p.Gly288Val)
|
|
|
NM_022168.4(IFIH1):c.865A>G (p.Ser289Gly)
|
|
|
NM_022168.4(IFIH1):c.871T>A (p.Ser291Thr)
|
|
|
NM_022168.4(IFIH1):c.874+6G>T
|
|
|
NM_022168.4(IFIH1):c.875-11A>G
|
|
|
NM_022168.4(IFIH1):c.875-1G>C
|
rs1682933667
|
|
NM_022168.4(IFIH1):c.875A>G (p.Asp292Gly)
|
rs2105209194
|
|
NM_022168.4(IFIH1):c.896G>T (p.Arg299Ile)
|
|
|
NM_022168.4(IFIH1):c.8A>G (p.Asn3Ser)
|
rs2105238788
|
|
NM_022168.4(IFIH1):c.901T>C (p.Ser301Pro)
|
|
|
NM_022168.4(IFIH1):c.902C>T (p.Ser301Phe)
|
rs764283944
|
|
NM_022168.4(IFIH1):c.905C>T (p.Pro302Leu)
|
|
|
NM_022168.4(IFIH1):c.911C>T (p.Pro304Leu)
|
rs1682932788
|
|
NM_022168.4(IFIH1):c.91G>T (p.Val31Leu)
|
rs1683550615
|
|
NM_022168.4(IFIH1):c.926G>C (p.Arg309Thr)
|
|
|
NM_022168.4(IFIH1):c.929del (p.Pro310fs)
|
rs1212715492
|
|
NM_022168.4(IFIH1):c.937del (p.Met313fs)
|
|
|
NM_022168.4(IFIH1):c.946G>A (p.Ala316Thr)
|
rs1355343871
|
|
NM_022168.4(IFIH1):c.946G>T (p.Ala316Ser)
|
rs1355343871
|
|
NM_022168.4(IFIH1):c.956C>G (p.Ala319Gly)
|
rs1682931873
|
|
NM_022168.4(IFIH1):c.960G>C (p.Leu320Phe)
|
|
|
NM_022168.4(IFIH1):c.971A>G (p.Asn324Ser)
|
rs2105209017
|
|
NM_022168.4(IFIH1):c.973A>T (p.Ile325Phe)
|
rs1474944804
|
|
NM_022168.4(IFIH1):c.974T>C (p.Ile325Thr)
|
|
|
NM_022168.4(IFIH1):c.977T>C (p.Ile326Thr)
|
rs1682931491
|
|
NM_022168.4(IFIH1):c.97G>T (p.Asp33Tyr)
|
|
|
NM_022168.4(IFIH1):c.980T>C (p.Ile327Thr)
|
|
|
NM_022168.4(IFIH1):c.996G>T (p.Gly332=)
|
rs1576229569
|
|
NM_022168.4(IFIH1):c.997A>G (p.Ser333Gly)
|
|
|
NM_022455.5(NSD1):c.2008G>A (p.Asp670Asn)
|
rs1554189230
|
|
NM_022552.5(DNMT3A):c.2666T>G (p.Leu889Arg)
|
|
|
NM_022552.5(DNMT3A):c.656A>G (p.Lys219Arg)
|
rs950156492
|
|
NM_022845.3(CBFB):c.295_296dup (p.Pro100fs)
|
rs1961069899
|
|
NM_022904.3(RASAL3):c.-5C>G
|
rs76267899
|
|
NM_023110.3(FGFR1):c.-88-3566dup
|
rs1424371425
|
|
NM_023110.3(FGFR1):c.1495G>A (p.Gly499Arg)
|
rs759552236
|
|
NM_023110.3(FGFR1):c.1694C>T (p.Ser565Phe)
|
rs768223019
|
|
NM_023110.3(FGFR1):c.1727G>A (p.Arg576Gln)
|
rs1482868825
|
|
NM_023110.3(FGFR1):c.2251G>A (p.Val751Met)
|
rs2150520798
|
|
NM_023110.3(FGFR1):c.2323C>G (p.Gln775Glu)
|
rs1232665126
|
|
NM_023110.3(FGFR1):c.289G>T (p.Gly97Cys)
|
rs1260404537
|
|
NM_024408.4(NOTCH2):c.1004G>A (p.Cys335Tyr)
|
|
|
NM_024408.4(NOTCH2):c.1006A>G (p.Ser336Gly)
|
|
|
NM_024408.4(NOTCH2):c.1016T>C (p.Ile339Thr)
|
|
|
NM_024408.4(NOTCH2):c.1027G>C (p.Ala343Pro)
|
|
|
NM_024408.4(NOTCH2):c.1029C>T (p.Ala343=)
|
|
|
NM_024408.4(NOTCH2):c.1033G>A (p.Ala345Thr)
|
|
|
NM_024408.4(NOTCH2):c.1076C>G (p.Ser359Cys)
|
|
|
NM_024408.4(NOTCH2):c.1105G>T (p.Ala369Ser)
|
|
|
NM_024408.4(NOTCH2):c.1108+5G>A
|
|
|
NM_024408.4(NOTCH2):c.1130A>T (p.Asp377Val)
|
|
|
NM_024408.4(NOTCH2):c.1138A>G (p.Ile380Val)
|
|
|
NM_024408.4(NOTCH2):c.1145A>G (p.Asn382Ser)
|
|
|
NM_024408.4(NOTCH2):c.1213C>G (p.Gln405Glu)
|
|
|
NM_024408.4(NOTCH2):c.1264+3G>A
|
|
|
NM_024408.4(NOTCH2):c.1265-6T>G
|
|
|
NM_024408.4(NOTCH2):c.1271G>A (p.Ser424Asn)
|
|
|
NM_024408.4(NOTCH2):c.1280G>A (p.Cys427Tyr)
|
rs1557825800
|
|
NM_024408.4(NOTCH2):c.1307C>T (p.Thr436Met)
|
|
|
NM_024408.4(NOTCH2):c.1373A>G (p.Asn458Ser)
|
|
|
NM_024408.4(NOTCH2):c.1387G>C (p.Asp463His)
|
|
|
NM_024408.4(NOTCH2):c.1397A>G (p.Gln466Arg)
|
|
|
NM_024408.4(NOTCH2):c.1426G>A (p.Gly476Arg)
|
|
|
NM_024408.4(NOTCH2):c.1465G>A (p.Val489Met)
|
|
|
NM_024408.4(NOTCH2):c.1500C>A (p.Ser500Arg)
|
|
|
NM_024408.4(NOTCH2):c.1500C>G (p.Ser500Arg)
|
|
|
NM_024408.4(NOTCH2):c.1534A>G (p.Lys512Glu)
|
rs2101141596
|
|
NM_024408.4(NOTCH2):c.1543C>T (p.Arg515Cys)
|
|
|
NM_024408.4(NOTCH2):c.1544G>A (p.Arg515His)
|
|
|
NM_024408.4(NOTCH2):c.1550A>G (p.Gln517Arg)
|
|
|
NM_024408.4(NOTCH2):c.1562C>G (p.Pro521Arg)
|
|
|
NM_024408.4(NOTCH2):c.1591A>G (p.Ile531Val)
|
|
|
NM_024408.4(NOTCH2):c.1598T>C (p.Ile533Thr)
|
|
|
NM_024408.4(NOTCH2):c.1605C>G (p.Asp535Glu)
|
|
|
NM_024408.4(NOTCH2):c.1615A>G (p.Thr539Ala)
|
|
|
NM_024408.4(NOTCH2):c.1616C>T (p.Thr539Ile)
|
|
|
NM_024408.4(NOTCH2):c.1640G>A (p.Cys547Tyr)
|
|
|
NM_024408.4(NOTCH2):c.1642A>G (p.Ile548Val)
|
|
|
NM_024408.4(NOTCH2):c.1650C>A (p.His550Gln)
|
|
|
NM_024408.4(NOTCH2):c.1661A>G (p.Tyr554Cys)
|
|
|
NM_024408.4(NOTCH2):c.1670A>G (p.Gln557Arg)
|
|
|
NM_024408.4(NOTCH2):c.1681+13_1681+14delinsCA
|
|
|
NM_024408.4(NOTCH2):c.1681+16_1681+29del
|
|
|
NM_024408.4(NOTCH2):c.1688C>A (p.Thr563Asn)
|
|
|
NM_024408.4(NOTCH2):c.1698G>T (p.Leu566Phe)
|
|
|
NM_024408.4(NOTCH2):c.1709A>T (p.Asn570Ile)
|
|
|
NM_024408.4(NOTCH2):c.1775C>A (p.Thr592Asn)
|
rs1651030166
|
|
NM_024408.4(NOTCH2):c.1777T>C (p.Cys593Arg)
|
|
|
NM_024408.4(NOTCH2):c.1782C>G (p.Ile594Met)
|
|
|
NM_024408.4(NOTCH2):c.1787A>G (p.Asn596Ser)
|
|
|
NM_024408.4(NOTCH2):c.1798A>G (p.Met600Val)
|
|
|
NM_024408.4(NOTCH2):c.1817A>T (p.Asp606Val)
|
|
|
NM_024408.4(NOTCH2):c.1823T>C (p.Ile608Thr)
|
|
|
NM_024408.4(NOTCH2):c.1823T>G (p.Ile608Ser)
|
|
|
NM_024408.4(NOTCH2):c.1834T>C (p.Tyr612His)
|
|
|
NM_024408.4(NOTCH2):c.1880A>G (p.Asn627Ser)
|
|
|
NM_024408.4(NOTCH2):c.1915+2dup
|
rs1570696957
|
|
NM_024408.4(NOTCH2):c.1918G>A (p.Val640Ile)
|
|
|
NM_024408.4(NOTCH2):c.1939G>A (p.Asp647Asn)
|
|
|
NM_024408.4(NOTCH2):c.1946G>T (p.Cys649Phe)
|
|
|
NM_024408.4(NOTCH2):c.1955A>T (p.Asn652Ile)
|
rs1411949035
|
|
NM_024408.4(NOTCH2):c.1957C>A (p.Pro653Thr)
|
rs1553198769
|
|
NM_024408.4(NOTCH2):c.1967A>G (p.His656Arg)
|
|
|
NM_024408.4(NOTCH2):c.1993C>T (p.Arg665Cys)
|
|
|
NM_024408.4(NOTCH2):c.1994G>A (p.Arg665His)
|
|
|
NM_024408.4(NOTCH2):c.2026+6G>A
|
rs587731563
|
|
NM_024408.4(NOTCH2):c.2026+6G>C
|
rs587731563
|
|
NM_024408.4(NOTCH2):c.2026G>C (p.Gly676Arg)
|
|
|
NM_024408.4(NOTCH2):c.2063C>T (p.Ser688Phe)
|
|
|
NM_024408.4(NOTCH2):c.2066A>G (p.Asn689Ser)
|
|
|
NM_024408.4(NOTCH2):c.2080G>C (p.Gly694Arg)
|
|
|
NM_024408.4(NOTCH2):c.2099G>T (p.Gly700Val)
|
|
|
NM_024408.4(NOTCH2):c.2108G>T (p.Gly703Val)
|
|
|
NM_024408.4(NOTCH2):c.2113C>T (p.Arg705Cys)
|
|
|
NM_024408.4(NOTCH2):c.2114G>A (p.Arg705His)
|
|
|
NM_024408.4(NOTCH2):c.2119A>T (p.Ile707Leu)
|
|
|
NM_024408.4(NOTCH2):c.2126C>T (p.Pro709Leu)
|
|
|
NM_024408.4(NOTCH2):c.2128G>A (p.Glu710Lys)
|
|
|
NM_024408.4(NOTCH2):c.2132G>A (p.Gly711Glu)
|
|
|
NM_024408.4(NOTCH2):c.2155T>A (p.Ser719Thr)
|
|
|
NM_024408.4(NOTCH2):c.2166C>A (p.Asn722Lys)
|
rs1046818561
|
|
NM_024408.4(NOTCH2):c.2167G>A (p.Glu723Lys)
|
|
|
NM_024408.4(NOTCH2):c.2188A>G (p.Ile730Val)
|
|
|
NM_024408.4(NOTCH2):c.2213T>C (p.Leu738Pro)
|
|
|
NM_024408.4(NOTCH2):c.2219+5G>A
|
|
|
NM_024408.4(NOTCH2):c.2222A>C (p.Tyr741Ser)
|
|
|
NM_024408.4(NOTCH2):c.2222A>G (p.Tyr741Cys)
|
|
|
NM_024408.4(NOTCH2):c.2225A>G (p.Lys742Arg)
|
|
|
NM_024408.4(NOTCH2):c.2239G>A (p.Ala747Thr)
|
rs782424159
|
|
NM_024408.4(NOTCH2):c.2243G>A (p.Gly748Asp)
|
|
|
NM_024408.4(NOTCH2):c.2267T>A (p.Val756Glu)
|
|
|
NM_024408.4(NOTCH2):c.2269G>C (p.Asp757His)
|
|
|
NM_024408.4(NOTCH2):c.2273A>G (p.Lys758Arg)
|
|
|
NM_024408.4(NOTCH2):c.2274A>C (p.Lys758Asn)
|
|
|
NM_024408.4(NOTCH2):c.2279A>G (p.Glu760Gly)
|
|
|
NM_024408.4(NOTCH2):c.2292T>A (p.Asn764Lys)
|
|
|
NM_024408.4(NOTCH2):c.2294C>T (p.Pro765Leu)
|
|
|
NM_024408.4(NOTCH2):c.2321A>G (p.Asn774Ser)
|
|
|
NM_024408.4(NOTCH2):c.2338A>G (p.Arg780Gly)
|
|
|
NM_024408.4(NOTCH2):c.2339G>T (p.Arg780Met)
|
rs2101122186
|
|
NM_024408.4(NOTCH2):c.2352G>T (p.Lys784Asn)
|
rs782553837
|
|
NM_024408.4(NOTCH2):c.2353A>C (p.Lys785Gln)
|
|
|
NM_024408.4(NOTCH2):c.2365+17A>G
|
|
|
NM_024408.4(NOTCH2):c.2379G>C (p.Gln793His)
|
|
|
NM_024408.4(NOTCH2):c.2380G>A (p.Val794Met)
|
|
|
NM_024408.4(NOTCH2):c.2439C>G (p.Asp813Glu)
|
|
|
NM_024408.4(NOTCH2):c.2518A>G (p.Asn840Asp)
|
rs1553197408
|
|
NM_024408.4(NOTCH2):c.2520C>A (p.Asn840Lys)
|
|
|
NM_024408.4(NOTCH2):c.2527G>A (p.Glu843Lys)
|
|
|
NM_024408.4(NOTCH2):c.2557A>G (p.Asn853Asp)
|
|
|
NM_024408.4(NOTCH2):c.2560T>C (p.Phe854Leu)
|
rs1650363387
|
|
NM_024408.4(NOTCH2):c.2584G>T (p.Ala862Ser)
|
rs782798700
|
|
NM_024408.4(NOTCH2):c.2588C>T (p.Pro863Leu)
|
rs2101115530
|
|
NM_024408.4(NOTCH2):c.2594G>T (p.Trp865Leu)
|
|
|
NM_024408.4(NOTCH2):c.2600-3T>C
|
|
|
NM_024408.4(NOTCH2):c.2602C>G (p.Gln868Glu)
|
rs2101114714
|
|
NM_024408.4(NOTCH2):c.2641C>A (p.Pro881Thr)
|
|
|
NM_024408.4(NOTCH2):c.2666A>G (p.His889Arg)
|
|
|
NM_024408.4(NOTCH2):c.2677G>A (p.Gly893Ser)
|
rs782108690
|
|
NM_024408.4(NOTCH2):c.2686A>C (p.Met896Leu)
|
|
|
NM_024408.4(NOTCH2):c.2699C>T (p.Pro900Leu)
|
rs2101114444
|
|
NM_024408.4(NOTCH2):c.2701C>A (p.Pro901Thr)
|
|
|
NM_024408.4(NOTCH2):c.2731G>A (p.Asp911Asn)
|
|
|
NM_024408.4(NOTCH2):c.2738A>C (p.Asp913Ala)
|
|
|
NM_024408.4(NOTCH2):c.2753-8T>A
|
|
|
NM_024408.4(NOTCH2):c.2762A>G (p.Gln921Arg)
|
|
|
NM_024408.4(NOTCH2):c.2779A>G (p.Met927Val)
|
|
|
NM_024408.4(NOTCH2):c.2792A>G (p.Asn931Ser)
|
rs2101105785
|
|
NM_024408.4(NOTCH2):c.2794A>G (p.Thr932Ala)
|
rs1650070015
|
|
NM_024408.4(NOTCH2):c.2835G>T (p.Lys945Asn)
|
|
|
NM_024408.4(NOTCH2):c.2840A>G (p.Gln947Arg)
|
|
|
NM_024408.4(NOTCH2):c.2945T>C (p.Val982Ala)
|
rs992092842
|
|
NM_024408.4(NOTCH2):c.2981+3G>A
|
|
|
NM_024408.4(NOTCH2):c.3008T>C (p.Val1003Ala)
|
|
|
NM_024408.4(NOTCH2):c.3029C>T (p.Ser1010Phe)
|
|
|
NM_024408.4(NOTCH2):c.3034T>A (p.Leu1012Met)
|
|
|
NM_024408.4(NOTCH2):c.3053C>A (p.Thr1018Asn)
|
|
|
NM_024408.4(NOTCH2):c.3089G>C (p.Ser1030Thr)
|
|
|
NM_024408.4(NOTCH2):c.3094C>T (p.His1032Tyr)
|
|
|
NM_024408.4(NOTCH2):c.3103C>G (p.Leu1035Val)
|
|
|
NM_024408.4(NOTCH2):c.3104T>C (p.Leu1035Pro)
|
rs1038706033
|
|
NM_024408.4(NOTCH2):c.3154C>A (p.Pro1052Thr)
|
rs1417119248
|
|
NM_024408.4(NOTCH2):c.3166A>G (p.Thr1056Ala)
|
rs1650029261
|
|
NM_024408.4(NOTCH2):c.3183+4A>G
|
|
|
NM_024408.4(NOTCH2):c.3208T>C (p.Ser1070Pro)
|
rs1649920831
|
|
NM_024408.4(NOTCH2):c.3209C>T (p.Ser1070Phe)
|
rs1649920676
|
|
NM_024408.4(NOTCH2):c.3217A>G (p.Lys1073Glu)
|
|
|
NM_024408.4(NOTCH2):c.3220A>C (p.Asn1074His)
|
|
|
NM_024408.4(NOTCH2):c.3224A>C (p.Lys1075Thr)
|
rs2101100097
|
|
NM_024408.4(NOTCH2):c.3244A>G (p.Lys1082Glu)
|
|
|
NM_024408.4(NOTCH2):c.3276_3284del (p.Trp1093_Gly1095del)
|
|
|
NM_024408.4(NOTCH2):c.3307G>A (p.Val1103Ile)
|
|
|
NM_024408.4(NOTCH2):c.3319A>G (p.Ile1107Val)
|
rs781824405
|
|
NM_024408.4(NOTCH2):c.3331A>G (p.Arg1111Gly)
|
|
|
NM_024408.4(NOTCH2):c.3340G>T (p.Val1114Leu)
|
|
|
NM_024408.4(NOTCH2):c.3347T>C (p.Val1116Ala)
|
|
|
NM_024408.4(NOTCH2):c.3353A>C (p.His1118Pro)
|
|
|
NM_024408.4(NOTCH2):c.3363G>A (p.Gln1121=)
|
|
|
NM_024408.4(NOTCH2):c.3383A>G (p.Asn1128Ser)
|
rs1649897158
|
|
NM_024408.4(NOTCH2):c.3433T>C (p.Tyr1145His)
|
|
|
NM_024408.4(NOTCH2):c.3442G>A (p.Glu1148Lys)
|
|
|
NM_024408.4(NOTCH2):c.3451G>A (p.Asp1151Asn)
|
|
|
NM_024408.4(NOTCH2):c.3481G>A (p.Gly1161Arg)
|
|
|
NM_024408.4(NOTCH2):c.3493A>C (p.Ser1165Arg)
|
|
|
NM_024408.4(NOTCH2):c.3499T>G (p.Phe1167Val)
|
|
|
NM_024408.4(NOTCH2):c.3523-4G>T
|
|
|
NM_024408.4(NOTCH2):c.3527T>C (p.Val1176Ala)
|
rs2101182866
|
|
NM_024408.4(NOTCH2):c.3553G>A (p.Glu1185Lys)
|
|
|
NM_024408.4(NOTCH2):c.3566A>T (p.Asp1189Val)
|
|
|
NM_024408.4(NOTCH2):c.3584C>T (p.Pro1195Leu)
|
|
|
NM_024408.4(NOTCH2):c.3607A>G (p.Ile1203Val)
|
|
|
NM_024408.4(NOTCH2):c.3650C>T (p.Thr1217Ile)
|
|
|
NM_024408.4(NOTCH2):c.3664T>A (p.Cys1222Ser)
|
|
|
NM_024408.4(NOTCH2):c.3670G>A (p.Glu1224Lys)
|
rs886044885
|
|
NM_024408.4(NOTCH2):c.3677T>C (p.Ile1226Thr)
|
|
|
NM_024408.4(NOTCH2):c.3691C>T (p.Arg1231Trp)
|
|
|
NM_024408.4(NOTCH2):c.3692G>A (p.Arg1231Gln)
|
|
|
NM_024408.4(NOTCH2):c.3694G>T (p.Gly1232Cys)
|
|
|
NM_024408.4(NOTCH2):c.3698C>T (p.Pro1233Leu)
|
rs1318131579
|
|
NM_024408.4(NOTCH2):c.3778C>T (p.Arg1260Cys)
|
|
|
NM_024408.4(NOTCH2):c.3820A>G (p.Ser1274Gly)
|
|
|
NM_024408.4(NOTCH2):c.3865C>G (p.Leu1289Val)
|
|
|
NM_024408.4(NOTCH2):c.3907A>C (p.Thr1303Pro)
|
|
|
NM_024408.4(NOTCH2):c.3917A>C (p.Asp1306Ala)
|
|
|
NM_024408.4(NOTCH2):c.3920T>C (p.Val1307Ala)
|
|
|
NM_024408.4(NOTCH2):c.3971A>C (p.Asn1324Thr)
|
|
|
NM_024408.4(NOTCH2):c.3976C>T (p.Pro1326Ser)
|
|
|
NM_024408.4(NOTCH2):c.3994C>T (p.Arg1332Cys)
|
|
|
NM_024408.4(NOTCH2):c.3997T>C (p.Cys1333Arg)
|
|
|
NM_024408.4(NOTCH2):c.4001C>G (p.Pro1334Arg)
|
|
|
NM_024408.4(NOTCH2):c.4004C>T (p.Pro1335Leu)
|
|
|
NM_024408.4(NOTCH2):c.4005G>T (p.Pro1335=)
|
|
|
NM_024408.4(NOTCH2):c.4015G>A (p.Gly1339Arg)
|
|
|
NM_024408.4(NOTCH2):c.4023G>T (p.Arg1341Ser)
|
|
|
NM_024408.4(NOTCH2):c.4039G>A (p.Gly1347Arg)
|
rs2101163283
|
|
NM_024408.4(NOTCH2):c.4045G>A (p.Val1349Met)
|
rs776129840
|
|
NM_024408.4(NOTCH2):c.4058A>G (p.Lys1353Arg)
|
|
|
NM_024408.4(NOTCH2):c.4076A>C (p.His1359Pro)
|
|
|
NM_024408.4(NOTCH2):c.4076A>G (p.His1359Arg)
|
|
|
NM_024408.4(NOTCH2):c.4081G>A (p.Ala1361Thr)
|
|
|
NM_024408.4(NOTCH2):c.4094G>A (p.Arg1365His)
|
|
|
NM_024408.4(NOTCH2):c.4115G>A (p.Arg1372Gln)
|
|
|
NM_024408.4(NOTCH2):c.4123G>A (p.Glu1375Lys)
|
|
|
NM_024408.4(NOTCH2):c.4129G>A (p.Gly1377Ser)
|
|
|
NM_024408.4(NOTCH2):c.4145C>G (p.Pro1382Arg)
|
rs1418033447
|
|
NM_024408.4(NOTCH2):c.4156G>C (p.Gly1386Arg)
|
|
|
NM_024408.4(NOTCH2):c.4171C>A (p.Pro1391Thr)
|
|
|
NM_024408.4(NOTCH2):c.4177C>G (p.Arg1393Gly)
|
|
|
NM_024408.4(NOTCH2):c.4187C>G (p.Pro1396Arg)
|
|
|
NM_024408.4(NOTCH2):c.4243A>G (p.Thr1415Ala)
|
|
|
NM_024408.4(NOTCH2):c.4244C>G (p.Thr1415Arg)
|
|
|
NM_024408.4(NOTCH2):c.4247C>G (p.Ala1416Gly)
|
|
|
NM_024408.4(NOTCH2):c.4249C>A (p.Pro1417Thr)
|
|
|
NM_024408.4(NOTCH2):c.4252C>T (p.Pro1418Ser)
|
|
|
NM_024408.4(NOTCH2):c.4253C>T (p.Pro1418Leu)
|
|
|
NM_024408.4(NOTCH2):c.4276C>A (p.Leu1426Met)
|
rs1268581110
|
|
NM_024408.4(NOTCH2):c.4283A>G (p.Gln1428Arg)
|
|
|
NM_024408.4(NOTCH2):c.4310G>A (p.Gly1437Asp)
|
|
|
NM_024408.4(NOTCH2):c.4316G>A (p.Cys1439Tyr)
|
rs2101162209
|
|
NM_024408.4(NOTCH2):c.4337A>G (p.His1446Arg)
|
|
|
NM_024408.4(NOTCH2):c.4354G>A (p.Gly1452Arg)
|
|
|
NM_024408.4(NOTCH2):c.4356_4358del (p.Gly1453del)
|
|
|
NM_024408.4(NOTCH2):c.4369C>G (p.Leu1457Val)
|
|
|
NM_024408.4(NOTCH2):c.4383C>A (p.Asn1461Lys)
|
|
|
NM_024408.4(NOTCH2):c.4387_4388delinsCT (p.Trp1463Leu)
|
|
|
NM_024408.4(NOTCH2):c.4392C>T (p.Ala1464=)
|
|
|
NM_024408.4(NOTCH2):c.4394A>G (p.Asn1465Ser)
|
rs886044112
|
|
NM_024408.4(NOTCH2):c.4412C>T (p.Pro1471Leu)
|
|
|
NM_024408.4(NOTCH2):c.4420G>T (p.Asp1474Tyr)
|
|
|
NM_024408.4(NOTCH2):c.4424A>T (p.Tyr1475Phe)
|
|
|
NM_024408.4(NOTCH2):c.4462G>A (p.Glu1488Lys)
|
|
|
NM_024408.4(NOTCH2):c.4478A>G (p.Asn1493Ser)
|
|
|
NM_024408.4(NOTCH2):c.4511+6G>A
|
|
|
NM_024408.4(NOTCH2):c.4512-3T>G
|
|
|
NM_024408.4(NOTCH2):c.4519A>G (p.Lys1507Glu)
|
|
|
NM_024408.4(NOTCH2):c.4531G>C (p.Asp1511His)
|
|
|
NM_024408.4(NOTCH2):c.4578G>T (p.Glu1526Asp)
|
|
|
NM_024408.4(NOTCH2):c.4610A>C (p.Asp1537Ala)
|
|
|
NM_024408.4(NOTCH2):c.4615C>A (p.Pro1539Thr)
|
|
|
NM_024408.4(NOTCH2):c.4623C>A (p.Asn1541Lys)
|
|
|
NM_024408.4(NOTCH2):c.4624C>G (p.Leu1542Val)
|
|
|
NM_024408.4(NOTCH2):c.4647T>G (p.Ile1549Met)
|
rs1396873392
|
|
NM_024408.4(NOTCH2):c.4675C>G (p.Leu1559Val)
|
|
|
NM_024408.4(NOTCH2):c.4688G>T (p.Arg1563Leu)
|
|
|
NM_024408.4(NOTCH2):c.4692C>G (p.Ser1564Arg)
|
rs774541297
|
|
NM_024408.4(NOTCH2):c.4712C>A (p.Thr1571Asn)
|
|
|
NM_024408.4(NOTCH2):c.4732C>T (p.Arg1578Cys)
|
|
|
NM_024408.4(NOTCH2):c.4742G>A (p.Arg1581Gln)
|
|
|
NM_024408.4(NOTCH2):c.4744G>A (p.Asp1582Asn)
|
|
|
NM_024408.4(NOTCH2):c.4748C>T (p.Ser1583Phe)
|
|
|
NM_024408.4(NOTCH2):c.4758A>C (p.Glu1586Asp)
|
|
|
NM_024408.4(NOTCH2):c.4759C>T (p.Leu1587Phe)
|
|
|
NM_024408.4(NOTCH2):c.4771C>T (p.Pro1591Ser)
|
|
|
NM_024408.4(NOTCH2):c.4798A>G (p.Met1600Val)
|
|
|
NM_024408.4(NOTCH2):c.4814T>C (p.Met1605Thr)
|
|
|
NM_024408.4(NOTCH2):c.4819C>A (p.Arg1607Ser)
|
|
|
NM_024408.4(NOTCH2):c.4820G>C (p.Arg1607Pro)
|
|
|
NM_024408.4(NOTCH2):c.4825T>A (p.Ser1609Thr)
|
|
|
NM_024408.4(NOTCH2):c.4839A>C (p.Glu1613Asp)
|
|
|
NM_024408.4(NOTCH2):c.4840C>A (p.Gln1614Lys)
|
rs1557805633
|
|
NM_024408.4(NOTCH2):c.4846C>G (p.Gln1616Glu)
|
|
|
NM_024408.4(NOTCH2):c.4851G>T (p.Glu1617Asp)
|
|
|
NM_024408.4(NOTCH2):c.4864A>G (p.Lys1622Glu)
|
|
|
NM_024408.4(NOTCH2):c.4886A>C (p.Asn1629Thr)
|
|
|
NM_024408.4(NOTCH2):c.4888C>T (p.Arg1630Cys)
|
rs1649331292
|
|
NM_024408.4(NOTCH2):c.4889G>A (p.Arg1630His)
|
|
|
NM_024408.4(NOTCH2):c.4893G>T (p.Gln1631His)
|
|
|
NM_024408.4(NOTCH2):c.4895G>A (p.Cys1632Tyr)
|
|
|
NM_024408.4(NOTCH2):c.4923G>T (p.Lys1641Asn)
|
|
|
NM_024408.4(NOTCH2):c.4931A>T (p.Asp1644Val)
|
|
|
NM_024408.4(NOTCH2):c.4939G>T (p.Ala1647Ser)
|
rs2101156178
|
|
NM_024408.4(NOTCH2):c.4963A>G (p.Ile1655Val)
|
|
|
NM_024408.4(NOTCH2):c.4970G>A (p.Gly1657Glu)
|
|
|
NM_024408.4(NOTCH2):c.4996G>A (p.Val1666Ile)
|
|
|
NM_024408.4(NOTCH2):c.5008T>A (p.Ser1670Thr)
|
|
|
NM_024408.4(NOTCH2):c.5008T>C (p.Ser1670Pro)
|
|
|
NM_024408.4(NOTCH2):c.5017C>G (p.Pro1673Ala)
|
|
|
NM_024408.4(NOTCH2):c.5023C>T (p.Arg1675Cys)
|
|
|
NM_024408.4(NOTCH2):c.5024G>A (p.Arg1675His)
|
|
|
NM_024408.4(NOTCH2):c.5031G>T (p.Gln1677His)
|
rs1345166838
|
|
NM_024408.4(NOTCH2):c.5032C>T (p.Leu1678Phe)
|
|
|
NM_024408.4(NOTCH2):c.5062A>G (p.Ile1688Val)
|
|
|
NM_024408.4(NOTCH2):c.5152C>G (p.Arg1718Gly)
|
|
|
NM_024408.4(NOTCH2):c.5152C>T (p.Arg1718Cys)
|
|
|
NM_024408.4(NOTCH2):c.5155C>G (p.Arg1719Gly)
|
|
|
NM_024408.4(NOTCH2):c.5168A>G (p.Asn1723Ser)
|
|
|
NM_024408.4(NOTCH2):c.5170C>A (p.His1724Asn)
|
|
|
NM_024408.4(NOTCH2):c.5174A>G (p.Lys1725Arg)
|
|
|
NM_024408.4(NOTCH2):c.5177G>A (p.Arg1726His)
|
rs1557804884
|
|
NM_024408.4(NOTCH2):c.5180G>T (p.Arg1727Leu)
|
|
|
NM_024408.4(NOTCH2):c.5218C>T (p.Leu1740Phe)
|
|
|
NM_024408.4(NOTCH2):c.5252G>A (p.Gly1751Asp)
|
|
|
NM_024408.4(NOTCH2):c.5278G>A (p.Asp1760Asn)
|
|
|
NM_024408.4(NOTCH2):c.5303A>G (p.Lys1768Arg)
|
|
|
NM_024408.4(NOTCH2):c.5306T>C (p.Val1769Ala)
|
|
|
NM_024408.4(NOTCH2):c.5335G>A (p.Glu1779Lys)
|
|
|
NM_024408.4(NOTCH2):c.5357G>A (p.Arg1786Gln)
|
|
|
NM_024408.4(NOTCH2):c.5359C>T (p.Arg1787Trp)
|
|
|
NM_024408.4(NOTCH2):c.5368A>T (p.Thr1790Ser)
|
|
|
NM_024408.4(NOTCH2):c.5384A>C (p.Glu1795Ala)
|
rs2101151536
|
|
NM_024408.4(NOTCH2):c.5395A>G (p.Ile1799Val)
|
|
|
NM_024408.4(NOTCH2):c.5403G>T (p.Arg1801Ser)
|
|
|
NM_024408.4(NOTCH2):c.5425C>G (p.Pro1809Ala)
|
|
|
NM_024408.4(NOTCH2):c.5429C>T (p.Pro1810Leu)
|
|
|
NM_024408.4(NOTCH2):c.5470C>T (p.Arg1824Cys)
|
|
|
NM_024408.4(NOTCH2):c.5496G>T (p.Leu1832Phe)
|
|
|
NM_024408.4(NOTCH2):c.5509C>T (p.Leu1837Phe)
|
|
|
NM_024408.4(NOTCH2):c.5530T>G (p.Leu1844Val)
|
|
|
NM_024408.4(NOTCH2):c.5540AAGATG[1] (p.1847ED[1])
|
rs764518778
|
|
NM_024408.4(NOTCH2):c.5557G>C (p.Asp1853His)
|
|
|
NM_024408.4(NOTCH2):c.5569A>C (p.Asn1857His)
|
|
|
NM_024408.4(NOTCH2):c.5579C>T (p.Thr1860Ile)
|
|
|
NM_024408.4(NOTCH2):c.5595G>C (p.Gln1865His)
|
|
|
NM_024408.4(NOTCH2):c.5623C>T (p.Arg1875Trp)
|
|
|
NM_024408.4(NOTCH2):c.5660A>C (p.Tyr1887Ser)
|
|
|
NM_024408.4(NOTCH2):c.5660A>G (p.Tyr1887Cys)
|
|
|
NM_024408.4(NOTCH2):c.5683C>A (p.Arg1895Ser)
|
|
|
NM_024408.4(NOTCH2):c.5683C>T (p.Arg1895Cys)
|
|
|
NM_024408.4(NOTCH2):c.5705A>G (p.Asp1902Gly)
|
|
|
NM_024408.4(NOTCH2):c.5798G>A (p.Arg1933Gln)
|
|
|
NM_024408.4(NOTCH2):c.5798G>C (p.Arg1933Pro)
|
|
|
NM_024408.4(NOTCH2):c.5799A>G (p.Arg1933=)
|
rs1649165617
|
|
NM_024408.4(NOTCH2):c.5824A>G (p.Asn1942Asp)
|
|
|
NM_024408.4(NOTCH2):c.5837C>T (p.Thr1946Ile)
|
|
|
NM_024408.4(NOTCH2):c.5839C>T (p.Pro1947Ser)
|
|
|
NM_024408.4(NOTCH2):c.5858G>T (p.Arg1953Leu)
|
|
|
NM_024408.4(NOTCH2):c.5864C>T (p.Ala1955Val)
|
|
|
NM_024408.4(NOTCH2):c.5877G>T (p.Met1959Ile)
|
|
|
NM_024408.4(NOTCH2):c.5878G>A (p.Val1960Met)
|
|
|
NM_024408.4(NOTCH2):c.5903C>T (p.Ala1968Val)
|
|
|
NM_024408.4(NOTCH2):c.5911A>T (p.Asn1971Tyr)
|
|
|
NM_024408.4(NOTCH2):c.5945A>G (p.His1982Arg)
|
rs1553193747
|
|
NM_024408.4(NOTCH2):c.5951C>A (p.Ala1984Glu)
|
|
|
NM_024408.4(NOTCH2):c.5968G>A (p.Val1990Met)
|
|
|
NM_024408.4(NOTCH2):c.5987T>G (p.Leu1996Trp)
|
|
|
NM_024408.4(NOTCH2):c.6024C>G (p.Asn2008Lys)
|
|
|
NM_024408.4(NOTCH2):c.6055C>G (p.Arg2019Gly)
|
rs1430961661
|
|
NM_024408.4(NOTCH2):c.6104A>G (p.Asn2035Ser)
|
rs756949183
|
|
NM_024408.4(NOTCH2):c.6118G>A (p.Asp2040Asn)
|
rs748876258
|
|
NM_024408.4(NOTCH2):c.6129T>A (p.Asp2043Glu)
|
|
|
NM_024408.4(NOTCH2):c.6131G>A (p.Arg2044His)
|
|
|
NM_024408.4(NOTCH2):c.6139C>G (p.Arg2047Gly)
|
rs140353589
|
|
NM_024408.4(NOTCH2):c.6143A>T (p.Asp2048Val)
|
|
|
NM_024408.4(NOTCH2):c.6154G>T (p.Asp2052Tyr)
|
|
|
NM_024408.4(NOTCH2):c.6158G>A (p.Arg2053His)
|
|
|
NM_024408.4(NOTCH2):c.6166C>T (p.His2056Tyr)
|
|
|
NM_024408.4(NOTCH2):c.6172A>G (p.Ile2058Val)
|
|
|
NM_024408.4(NOTCH2):c.6173T>C (p.Ile2058Thr)
|
|
|
NM_024408.4(NOTCH2):c.6179G>A (p.Arg2060His)
|
|
|
NM_024408.4(NOTCH2):c.6200T>C (p.Val2067Ala)
|
|
|
NM_024408.4(NOTCH2):c.6208A>T (p.Ser2070Cys)
|
|
|
NM_024408.4(NOTCH2):c.6236C>T (p.Ala2079Val)
|
|
|
NM_024408.4(NOTCH2):c.6238C>G (p.Leu2080Val)
|
|
|
NM_024408.4(NOTCH2):c.6269C>G (p.Ser2090Cys)
|
|
|
NM_024408.4(NOTCH2):c.6284A>G (p.Lys2095Arg)
|
|
|
NM_024408.4(NOTCH2):c.6314G>A (p.Arg2105Gln)
|
|
|
NM_024408.4(NOTCH2):c.6317C>T (p.Pro2106Leu)
|
|
|
NM_024408.4(NOTCH2):c.6320G>A (p.Ser2107Asn)
|
|
|
NM_024408.4(NOTCH2):c.6356T>C (p.Leu2119Pro)
|
|
|
NM_024408.4(NOTCH2):c.6384TAG[1] (p.Ser2129del)
|
|
|
NM_024408.4(NOTCH2):c.6394AAG[1] (p.Lys2133del)
|
|
|
NM_024408.4(NOTCH2):c.6404T>C (p.Leu2135Pro)
|
rs2101144269
|
|
NM_024408.4(NOTCH2):c.6455A>G (p.Asp2152Gly)
|
|
|
NM_024408.4(NOTCH2):c.6472C>T (p.His2158Tyr)
|
|
|
NM_024408.4(NOTCH2):c.6474C>A (p.His2158Gln)
|
rs1649064512
|
|
NM_024408.4(NOTCH2):c.6474C>G (p.His2158Gln)
|
|
|
NM_024408.4(NOTCH2):c.6476C>T (p.Thr2159Met)
|
|
|
NM_024408.4(NOTCH2):c.6485C>T (p.Ser2162Phe)
|
|
|
NM_024408.4(NOTCH2):c.6505A>G (p.Met2169Val)
|
|
|
NM_024408.4(NOTCH2):c.6512C>T (p.Thr2171Ile)
|
rs1204320422
|
|
NM_024408.4(NOTCH2):c.6521G>C (p.Gly2174Ala)
|
|
|
NM_024408.4(NOTCH2):c.6533C>A (p.Ala2178Asp)
|
rs770234870
|
|
NM_024408.4(NOTCH2):c.6533C>G (p.Ala2178Gly)
|
|
|
NM_024408.4(NOTCH2):c.6549G>A (p.Met2183Ile)
|
|
|
NM_024408.4(NOTCH2):c.6554C>T (p.Ala2185Val)
|
|
|
NM_024408.4(NOTCH2):c.6572C>T (p.Ala2191Val)
|
|
|
NM_024408.4(NOTCH2):c.6575C>T (p.Pro2192Leu)
|
|
|
NM_024408.4(NOTCH2):c.6588G>C (p.Gln2196His)
|
|
|
NM_024408.4(NOTCH2):c.6618A>C (p.Glu2206Asp)
|
rs2101143543
|
|
NM_024408.4(NOTCH2):c.6640G>A (p.Ala2214Thr)
|
|
|
NM_024408.4(NOTCH2):c.6640G>T (p.Ala2214Ser)
|
|
|
NM_024408.4(NOTCH2):c.6661G>C (p.Val2221Leu)
|
rs898248472
|
|
NM_024408.4(NOTCH2):c.6671T>C (p.Leu2224Ser)
|
|
|
NM_024408.4(NOTCH2):c.6685C>T (p.His2229Tyr)
|
rs1557802029
|
|
NM_024408.4(NOTCH2):c.6690T>G (p.Ile2230Met)
|
|
|
NM_024408.4(NOTCH2):c.6710G>C (p.Ser2237Thr)
|
|
|
NM_024408.4(NOTCH2):c.6710G>T (p.Ser2237Ile)
|
|
|
NM_024408.4(NOTCH2):c.6751G>A (p.Ala2251Thr)
|
|
|
NM_024408.4(NOTCH2):c.6785C>G (p.Thr2262Ser)
|
|
|
NM_024408.4(NOTCH2):c.6802T>A (p.Phe2268Ile)
|
rs149580724
|
|
NM_024408.4(NOTCH2):c.6805G>C (p.Gly2269Arg)
|
|
|
NM_024408.4(NOTCH2):c.6814C>G (p.Leu2272Val)
|
|
|
NM_024408.4(NOTCH2):c.6817G>C (p.Ala2273Pro)
|
|
|
NM_024408.4(NOTCH2):c.6871G>A (p.Gly2291Arg)
|
rs2101142798
|
|
NM_024408.4(NOTCH2):c.6910A>C (p.Ile2304Leu)
|
rs1649046175
|
|
NM_024408.4(NOTCH2):c.6916A>T (p.Thr2306Ser)
|
rs1557801809
|
|
NM_024408.4(NOTCH2):c.6924G>C (p.Gln2308His)
|
|
|
NM_024408.4(NOTCH2):c.6998C>T (p.Ala2333Val)
|
|
|
NM_024408.4(NOTCH2):c.7030G>A (p.Glu2344Lys)
|
|
|
NM_024408.4(NOTCH2):c.7039C>T (p.Arg2347Cys)
|
|
|
NM_024408.4(NOTCH2):c.7055C>T (p.Ala2352Val)
|
|
|
NM_024408.4(NOTCH2):c.7057T>C (p.Phe2353Leu)
|
|
|
NM_024408.4(NOTCH2):c.7069A>G (p.Met2357Val)
|
|
|
NM_024408.4(NOTCH2):c.7070T>C (p.Met2357Thr)
|
|
|
NM_024408.4(NOTCH2):c.7072A>G (p.Met2358Val)
|
rs763117840
|
|
NM_024408.4(NOTCH2):c.7074G>T (p.Met2358Ile)
|
|
|
NM_024408.4(NOTCH2):c.7097C>T (p.Ala2366Val)
|
|
|
NM_024408.4(NOTCH2):c.7108C>G (p.Leu2370Val)
|
|
|
NM_024408.4(NOTCH2):c.7112C>T (p.Pro2371Leu)
|
|
|
NM_024408.4(NOTCH2):c.7114G>A (p.Ala2372Thr)
|
|
|
NM_024408.4(NOTCH2):c.7120C>G (p.His2374Asp)
|
|
|
NM_024408.4(NOTCH2):c.7126T>C (p.Phe2376Leu)
|
|
|
NM_024408.4(NOTCH2):c.7129C>A (p.Pro2377Thr)
|
|
|
NM_024408.4(NOTCH2):c.7130C>T (p.Pro2377Leu)
|
|
|
NM_024408.4(NOTCH2):c.7136C>T (p.Ser2379Phe)
|
|
|
NM_024408.4(NOTCH2):c.7159C>A (p.Pro2387Thr)
|
|
|
NM_024408.4(NOTCH2):c.719G>C (p.Gly240Ala)
|
rs1464974590
|
|
NM_024408.4(NOTCH2):c.7217G>T (p.Gly2406Val)
|
|
|
NM_024408.4(NOTCH2):c.7265C>T (p.Pro2422Leu)
|
|
|
NM_024408.4(NOTCH2):c.7269C>A (p.Asp2423Glu)
|
|
|
NM_024408.4(NOTCH2):c.7280G>C (p.Ser2427Thr)
|
rs1649029477
|
|
NM_024408.4(NOTCH2):c.7301C>A (p.Ser2434Tyr)
|
|
|
NM_024408.4(NOTCH2):c.7318A>G (p.Thr2440Ala)
|
|
|
NM_024408.4(NOTCH2):c.7336G>C (p.Gly2446Arg)
|
rs1379769528
|
|
NM_024408.4(NOTCH2):c.7337G>A (p.Gly2446Glu)
|
|
|
NM_024408.4(NOTCH2):c.7356G>T (p.Gln2452His)
|
rs1352825600
|
|
NM_024408.4(NOTCH2):c.7364C>T (p.Pro2455Leu)
|
|
|
NM_024408.4(NOTCH2):c.7376T>C (p.Met2459Thr)
|
|
|
NM_024408.4(NOTCH2):c.7390C>G (p.His2464Asp)
|
|
|
NM_024408.4(NOTCH2):c.7390C>T (p.His2464Tyr)
|
|
|
NM_024408.4(NOTCH2):c.7402C>A (p.Gln2468Lys)
|
|
|
NM_024408.4(NOTCH2):c.7405G>A (p.Val2469Ile)
|
|
|
NM_024408.4(NOTCH2):c.757G>A (p.Glu253Lys)
|
|
|
NM_024408.4(NOTCH2):c.782T>G (p.Ile261Ser)
|
rs1202374604
|
|
NM_024408.4(NOTCH2):c.815G>A (p.Gly272Glu)
|
rs1557834076
|
|
NM_024408.4(NOTCH2):c.820G>A (p.Val274Ile)
|
|
|
NM_024408.4(NOTCH2):c.853C>T (p.Arg285Cys)
|
rs142614610
|
|
NM_024408.4(NOTCH2):c.854G>A (p.Arg285His)
|
|
|
NM_024408.4(NOTCH2):c.854G>T (p.Arg285Leu)
|
|
|
NM_024408.4(NOTCH2):c.859C>G (p.Pro287Ala)
|
|
|
NM_024408.4(NOTCH2):c.859C>T (p.Pro287Ser)
|
|
|
NM_024408.4(NOTCH2):c.874+6T>C
|
|
|
NM_024408.4(NOTCH2):c.908T>C (p.Leu303Pro)
|
|
|
NM_024408.4(NOTCH2):c.920A>G (p.Asn307Ser)
|
|
|
NM_024408.4(NOTCH2):c.953G>T (p.Arg318Leu)
|
|
|
NM_024408.4(NOTCH2):c.998A>T (p.Asp333Val)
|
rs782747038
|
|
NM_024426.6(WT1):c.1388G>C (p.Arg463Pro)
|
rs1037084691
|
|
NM_024529.5(CDC73):c.*1056A>C
|
rs548106852
|
|
NM_024529.5(CDC73):c.*1075A>G
|
rs886045719
|
|
NM_024529.5(CDC73):c.*1144del
|
rs538761780
|
|
NM_024529.5(CDC73):c.*1144dup
|
rs538761780
|
|
NM_024529.5(CDC73):c.*1296C>G
|
rs1269411417
|
|
NM_024529.5(CDC73):c.*1303A>G
|
rs886045723
|
|
NM_024529.5(CDC73):c.*1442C>T
|
rs1678053550
|
|
NM_024529.5(CDC73):c.*1821G>T
|
rs1678060916
|
|
NM_024529.5(CDC73):c.*1858C>G
|
rs886045724
|
|
NM_024529.5(CDC73):c.*1956T>C
|
rs886045725
|
|
NM_024529.5(CDC73):c.*2043A>T
|
rs886045727
|
|
NM_024529.5(CDC73):c.*2131A>T
|
rs886045728
|
|
NM_024529.5(CDC73):c.*244T>A
|
rs1678034707
|
|
NM_024529.5(CDC73):c.*2639C>G
|
rs1361287206
|
|
NM_024529.5(CDC73):c.*3086C>T
|
rs886045733
|
|
NM_024529.5(CDC73):c.*3257A>G
|
rs886045734
|
|
NM_024529.5(CDC73):c.*3409_*3410del
|
rs886045735
|
|
NM_024529.5(CDC73):c.*3542A>G
|
rs886045736
|
|
NM_024529.5(CDC73):c.*3695C>G
|
rs1678098304
|
|
NM_024529.5(CDC73):c.*3887G>T
|
rs1678101144
|
|
NM_024529.5(CDC73):c.*937G>A
|
rs886045715
|
|
NM_024529.5(CDC73):c.*94A>G
|
rs547969893
|
|
NM_024529.5(CDC73):c.*956T>C
|
rs886045716
|
|
NM_024529.5(CDC73):c.-4dup
|
rs545666726
|
|
NM_024529.5(CDC73):c.1003C>T (p.Pro335Ser)
|
rs779180488
|
|
NM_024529.5(CDC73):c.1009G>A (p.Ala337Thr)
|
|
|
NM_024529.5(CDC73):c.1018G>A (p.Val340Ile)
|
rs1060500021
|
|
NM_024529.5(CDC73):c.1103C>T (p.Thr368Ile)
|
rs2102038553
|
|
NM_024529.5(CDC73):c.1192C>A (p.Gln398Lys)
|
|
|
NM_024529.5(CDC73):c.1200A>T (p.Glu400Asp)
|
|
|
NM_024529.5(CDC73):c.1249A>G (p.Thr417Ala)
|
rs1572215351
|
|
NM_024529.5(CDC73):c.1324G>A (p.Val442Ile)
|
rs1677756402
|
|
NM_024529.5(CDC73):c.1384C>T (p.Pro462Ser)
|
rs1199579887
|
|
NM_024529.5(CDC73):c.1486G>A (p.Val496Ile)
|
|
|
NM_024529.5(CDC73):c.1537C>T (p.Arg513Trp)
|
rs1060500011
|
|
NM_024529.5(CDC73):c.156A>G (p.Arg52=)
|
rs886045712
|
|
NM_024529.5(CDC73):c.192TAA[1] (p.Asn66del)
|
|
|
NM_024529.5(CDC73):c.298G>A (p.Gly100Ser)
|
|
|
NM_024529.5(CDC73):c.314C>T (p.Ser105Leu)
|
rs1675773790
|
|
NM_024529.5(CDC73):c.320G>A (p.Ser107Asn)
|
rs1572150421
|
|
NM_024529.5(CDC73):c.380C>T (p.Ala127Val)
|
rs1558282443
|
|
NM_024529.5(CDC73):c.424-12G>A
|
|
|
NM_024529.5(CDC73):c.47A>G (p.Lys16Arg)
|
|
|
NM_024529.5(CDC73):c.659T>C (p.Val220Ala)
|
rs886045713
|
|
NM_024529.5(CDC73):c.69C>G (p.Asp23Glu)
|
rs1675465120
|
|
NM_024529.5(CDC73):c.709A>G (p.Ile237Val)
|
rs1675915480
|
|
NM_024529.5(CDC73):c.728A>T (p.Lys243Met)
|
rs1675915771
|
|
NM_024529.5(CDC73):c.731A>G (p.Asn244Ser)
|
rs368199363
|
|
NM_024529.5(CDC73):c.748T>C (p.Phe250Leu)
|
|
|
NM_024529.5(CDC73):c.811C>G (p.Pro271Ala)
|
rs765029460
|
|
NM_024529.5(CDC73):c.834C>T (p.Pro278=)
|
rs886045714
|
|
NM_024529.5(CDC73):c.8A>G (p.Asp3Gly)
|
rs1675462949
|
|
NM_024535.5(CORO7):c.2772+50C>T
|
rs1555468179
|
|
NM_024570.4(RNASEH2B):c.*174C>T
|
rs1952055649
|
|
NM_024570.4(RNASEH2B):c.*63G>T
|
rs751735556
|
|
NM_024570.4(RNASEH2B):c.-107G>A
|
rs886050289
|
|
NM_024570.4(RNASEH2B):c.105_107del (p.Met36del)
|
rs1566079047
|
|
NM_024570.4(RNASEH2B):c.121G>A (p.Val41Ile)
|
|
|
NM_024570.4(RNASEH2B):c.128C>A (p.Pro43His)
|
|
|
NM_024570.4(RNASEH2B):c.137-13T>G
|
|
|
NM_024570.4(RNASEH2B):c.137-4A>C
|
|
|
NM_024570.4(RNASEH2B):c.143G>A (p.Gly48Glu)
|
rs1951648632
|
|
NM_024570.4(RNASEH2B):c.156G>T (p.Leu52Phe)
|
|
|
NM_024570.4(RNASEH2B):c.162T>A (p.Asn54Lys)
|
|
|
NM_024570.4(RNASEH2B):c.169C>A (p.Leu57Ile)
|
rs1458407476
|
|
NM_024570.4(RNASEH2B):c.16G>T (p.Asp6Tyr)
|
|
|
NM_024570.4(RNASEH2B):c.184G>A (p.Glu62Lys)
|
rs2137933016
|
|
NM_024570.4(RNASEH2B):c.219G>T (p.Trp73Cys)
|
rs1951650677
|
|
NM_024570.4(RNASEH2B):c.223A>G (p.Ile75Val)
|
|
|
NM_024570.4(RNASEH2B):c.239A>G (p.Gln80Arg)
|
rs1951651077
|
|
NM_024570.4(RNASEH2B):c.241T>G (p.Ser81Ala)
|
rs1328842720
|
|
NM_024570.4(RNASEH2B):c.244+6T>C
|
|
|
NM_024570.4(RNASEH2B):c.248G>T (p.Gly83Val)
|
rs1951668772
|
|
NM_024570.4(RNASEH2B):c.25G>A (p.Asp9Asn)
|
rs1879259645
|
|
NM_024570.4(RNASEH2B):c.25G>C (p.Asp9His)
|
rs1879259645
|
|
NM_024570.4(RNASEH2B):c.269C>G (p.Pro90Arg)
|
|
|
NM_024570.4(RNASEH2B):c.26A>T (p.Asp9Val)
|
|
|
NM_024570.4(RNASEH2B):c.271G>A (p.Val91Met)
|
|
|
NM_024570.4(RNASEH2B):c.285del (p.Leu96fs)
|
rs1566080738
|
|
NM_024570.4(RNASEH2B):c.286C>A (p.Leu96Met)
|
rs2137938188
|
|
NM_024570.4(RNASEH2B):c.299A>G (p.Tyr100Cys)
|
|
|
NM_024570.4(RNASEH2B):c.29G>C (p.Gly10Ala)
|
|
|
NM_024570.4(RNASEH2B):c.2T>C (p.Met1Thr)
|
rs1457494794
|
|
NM_024570.4(RNASEH2B):c.31G>T (p.Val11Phe)
|
|
|
NM_024570.4(RNASEH2B):c.321G>A (p.Glu107=)
|
|
|
NM_024570.4(RNASEH2B):c.322-17A>G
|
|
|
NM_024570.4(RNASEH2B):c.343C>G (p.Gln115Glu)
|
rs1363440628
|
|
NM_024570.4(RNASEH2B):c.345A>C (p.Gln115His)
|
|
|
NM_024570.4(RNASEH2B):c.352G>T (p.Val118Leu)
|
|
|
NM_024570.4(RNASEH2B):c.361G>A (p.Val121Met)
|
rs764980431
|
|
NM_024570.4(RNASEH2B):c.361G>T (p.Val121Leu)
|
rs764980431
|
|
NM_024570.4(RNASEH2B):c.365T>G (p.Phe122Cys)
|
|
|
NM_024570.4(RNASEH2B):c.376A>G (p.Ile126Val)
|
rs569343532
|
|
NM_024570.4(RNASEH2B):c.394C>A (p.Pro132Thr)
|
rs780398368
|
|
NM_024570.4(RNASEH2B):c.405G>C (p.Glu135Asp)
|
rs1951727784
|
|
NM_024570.4(RNASEH2B):c.436+6G>C
|
|
|
NM_024570.4(RNASEH2B):c.445G>C (p.Glu149Gln)
|
rs770355902
|
|
NM_024570.4(RNASEH2B):c.448A>G (p.Ile150Val)
|
rs1593470380
|
|
NM_024570.4(RNASEH2B):c.467A>G (p.Tyr156Cys)
|
|
|
NM_024570.4(RNASEH2B):c.476G>A (p.Ser159Asn)
|
rs76219783
|
|
NM_024570.4(RNASEH2B):c.509del (p.Lys170fs)
|
rs1085307091
|
|
NM_024570.4(RNASEH2B):c.510+3A>G
|
rs1387848478
|
|
NM_024570.4(RNASEH2B):c.510+6G>T
|
rs1951858134
|
|
NM_024570.4(RNASEH2B):c.510G>A (p.Lys170=)
|
rs2137982984
|
|
NM_024570.4(RNASEH2B):c.511-22_511-20delinsGAA
|
|
|
NM_024570.4(RNASEH2B):c.520A>G (p.Thr174Ala)
|
|
|
NM_024570.4(RNASEH2B):c.521C>T (p.Thr174Ile)
|
rs902917241
|
|
NM_024570.4(RNASEH2B):c.528A>G (p.Ala176=)
|
rs768340427
|
|
NM_024570.4(RNASEH2B):c.542A>G (p.Asn181Ser)
|
rs1951888592
|
|
NM_024570.4(RNASEH2B):c.554T>G (p.Val185Gly)
|
rs74555752
|
|
NM_024570.4(RNASEH2B):c.556A>G (p.Ser186Gly)
|
|
|
NM_024570.4(RNASEH2B):c.565G>T (p.Val189Leu)
|
rs1951889253
|
|
NM_024570.4(RNASEH2B):c.575C>T (p.Thr192Ile)
|
|
|
NM_024570.4(RNASEH2B):c.577G>A (p.Ala193Thr)
|
rs2137990955
|
|
NM_024570.4(RNASEH2B):c.580T>C (p.Phe194Leu)
|
|
|
NM_024570.4(RNASEH2B):c.589G>T (p.Gly197Cys)
|
rs745471919
|
|
NM_024570.4(RNASEH2B):c.598G>A (p.Ala200Thr)
|
|
|
NM_024570.4(RNASEH2B):c.601T>C (p.Ser201Pro)
|
rs2137991056
|
|
NM_024570.4(RNASEH2B):c.607G>C (p.Asp203His)
|
|
|
NM_024570.4(RNASEH2B):c.609C>A (p.Asp203Glu)
|
rs1951889997
|
|
NM_024570.4(RNASEH2B):c.616+2dup
|
|
|
NM_024570.4(RNASEH2B):c.618G>T (p.Glu206Asp)
|
|
|
NM_024570.4(RNASEH2B):c.618_619delinsTA (p.Glu206_Asp207delinsAspAsn)
|
rs1593474848
|
|
NM_024570.4(RNASEH2B):c.623A>G (p.Tyr208Cys)
|
rs2138000084
|
|
NM_024570.4(RNASEH2B):c.631T>C (p.Tyr211His)
|
rs1951926945
|
|
NM_024570.4(RNASEH2B):c.638A>G (p.His213Arg)
|
rs200648780
|
|
NM_024570.4(RNASEH2B):c.639T>A (p.His213Gln)
|
rs1265842301
|
|
NM_024570.4(RNASEH2B):c.64+3A>G
|
|
|
NM_024570.4(RNASEH2B):c.641G>A (p.Gly214Asp)
|
rs977521667
|
|
NM_024570.4(RNASEH2B):c.655T>C (p.Tyr219His)
|
rs77391331
|
|
NM_024570.4(RNASEH2B):c.677A>T (p.Asp226Val)
|
|
|
NM_024570.4(RNASEH2B):c.685T>C (p.Ser229Pro)
|
rs768565639
|
|
NM_024570.4(RNASEH2B):c.699-11A>G
|
rs886050290
|
|
NM_024570.4(RNASEH2B):c.699-9C>G
|
rs2138005108
|
|
NM_024570.4(RNASEH2B):c.715G>T (p.Ala239Ser)
|
|
|
NM_024570.4(RNASEH2B):c.719C>T (p.Ser240Leu)
|
rs372632599
|
|
NM_024570.4(RNASEH2B):c.723G>C (p.Leu241Phe)
|
|
|
NM_024570.4(RNASEH2B):c.72A>T (p.Leu24Phe)
|
rs748052389
|
|
NM_024570.4(RNASEH2B):c.741+6A>G
|
|
|
NM_024570.4(RNASEH2B):c.742-9A>G
|
rs1952008392
|
|
NM_024570.4(RNASEH2B):c.767T>C (p.Val256Ala)
|
|
|
NM_024570.4(RNASEH2B):c.77A>G (p.Asp26Gly)
|
rs1951613237
|
|
NM_024570.4(RNASEH2B):c.79G>A (p.Ala27Thr)
|
|
|
NM_024570.4(RNASEH2B):c.818A>T (p.Glu273Val)
|
|
|
NM_024570.4(RNASEH2B):c.827dup (p.Asn276fs)
|
rs746868812
|
|
NM_024570.4(RNASEH2B):c.838A>C (p.Thr280Pro)
|
rs2138027194
|
|
NM_024570.4(RNASEH2B):c.849G>C (p.Gln283His)
|
|
|
NM_024570.4(RNASEH2B):c.86AGA[1] (p.Lys30del)
|
rs776706264
|
|
NM_024570.4(RNASEH2B):c.890T>C (p.Ile297Thr)
|
|
|
NM_024570.4(RNASEH2B):c.911A>T (p.Lys304Ile)
|
|
|
NM_024570.4(RNASEH2B):c.913A>C (p.Asn305His)
|
rs2138027653
|
|
NM_024570.4(RNASEH2B):c.914dup (p.Asn305fs)
|
|
|
NM_024570.4(RNASEH2B):c.915_918del (p.Asn305fs)
|
rs2138027647
|
|
NM_024570.4(RNASEH2B):c.924_925dup (p.Ile309fs)
|
rs75254367
|
|
NM_024570.4(RNASEH2B):c.929del (p.Gly310fs)
|
rs1952051723
|
|
NM_024675.4(PALB2):c.1600T>G (p.Ser534Ala)
|
rs1064793824
|
|
NM_024675.4(PALB2):c.398G>C (p.Ser133Thr)
|
rs864622411
|
|
NM_024753.5(TTC21B):c.2431G>T (p.Val811Phe)
|
rs2105318208
|
|
NM_025132.4(WDR19):c.1354T>C (p.Leu452=)
|
rs2109329940
|
|
NM_025132.4(WDR19):c.2932A>G (p.Lys978Glu)
|
rs2109440327
|
|
NM_025132.4(WDR19):c.685C>G (p.Gln229Glu)
|
rs1727822959
|
|
NM_030777.4(SLC2A10):c.*1143G>T
|
rs545129749
|
|
NM_030777.4(SLC2A10):c.*1230C>T
|
rs1980503486
|
|
NM_030777.4(SLC2A10):c.*1249G>A
|
rs940735282
|
|
NM_030777.4(SLC2A10):c.*1502C>T
|
rs1980516262
|
|
NM_030777.4(SLC2A10):c.*1715G>A
|
rs1980525551
|
|
NM_030777.4(SLC2A10):c.*171C>T
|
rs886056728
|
|
NM_030777.4(SLC2A10):c.*194G>A
|
rs192739192
|
|
NM_030777.4(SLC2A10):c.*2018C>T
|
rs886056736
|
|
NM_030777.4(SLC2A10):c.*2098A>G
|
rs1600677122
|
|
NM_030777.4(SLC2A10):c.*2137C>G
|
rs1980545509
|
|
NM_030777.4(SLC2A10):c.*2416_*2418del
|
rs528431199
|
|
NM_030777.4(SLC2A10):c.*269del
|
rs113206025
|
|
NM_030777.4(SLC2A10):c.*470_*472del
|
rs3091691
|
|
NM_030777.4(SLC2A10):c.*472dup
|
rs3091691
|
|
NM_030777.4(SLC2A10):c.*579G>C
|
rs1980468037
|
|
NM_030777.4(SLC2A10):c.*659G>A
|
rs868705835
|
|
NM_030777.4(SLC2A10):c.*712A>G
|
rs886056732
|
|
NM_030777.4(SLC2A10):c.*852T>C
|
rs747965744
|
|
NM_030777.4(SLC2A10):c.*898A>C
|
rs777660140
|
|
NM_030777.4(SLC2A10):c.*926C>T
|
rs1980487818
|
|
NM_030777.4(SLC2A10):c.1002T>A (p.Asn334Lys)
|
rs377238665
|
|
NM_030777.4(SLC2A10):c.1012C>A (p.Gln338Lys)
|
|
|
NM_030777.4(SLC2A10):c.104C>T (p.Pro35Leu)
|
rs758877524
|
|
NM_030777.4(SLC2A10):c.1057C>G (p.Leu353Val)
|
rs200196034
|
|
NM_030777.4(SLC2A10):c.1132C>G (p.Pro378Ala)
|
|
|
NM_030777.4(SLC2A10):c.1154C>T (p.Ala385Val)
|
rs79849424
|
|
NM_030777.4(SLC2A10):c.1162C>T (p.Arg388Trp)
|
|
|
NM_030777.4(SLC2A10):c.1168G>A (p.Ala390Thr)
|
rs1281543071
|
|
NM_030777.4(SLC2A10):c.1183C>T (p.Leu395Phe)
|
rs1979943098
|
|
NM_030777.4(SLC2A10):c.1192C>T (p.Pro398Ser)
|
|
|
NM_030777.4(SLC2A10):c.1216G>A (p.Ala406Thr)
|
rs1301553883
|
|
NM_030777.4(SLC2A10):c.1217C>A (p.Ala406Glu)
|
rs752635709
|
|
NM_030777.4(SLC2A10):c.1225C>G (p.Arg409Gly)
|
rs562212724
|
|
NM_030777.4(SLC2A10):c.1265C>G (p.Ala422Gly)
|
rs1600668873
|
|
NM_030777.4(SLC2A10):c.1289-3T>G
|
|
|
NM_030777.4(SLC2A10):c.1292C>T (p.Thr431Ile)
|
|
|
NM_030777.4(SLC2A10):c.1325A>G (p.Glu442Gly)
|
|
|
NM_030777.4(SLC2A10):c.1337G>C (p.Arg446Thr)
|
rs761324818
|
|
NM_030777.4(SLC2A10):c.1345G>A (p.Ala449Thr)
|
|
|
NM_030777.4(SLC2A10):c.1375A>C (p.Asn459His)
|
rs781676521
|
|
NM_030777.4(SLC2A10):c.1375A>G (p.Asn459Asp)
|
rs781676521
|
|
NM_030777.4(SLC2A10):c.137A>G (p.Glu46Gly)
|
rs756331165
|
|
NM_030777.4(SLC2A10):c.1384A>G (p.Ile462Val)
|
rs545801780
|
|
NM_030777.4(SLC2A10):c.1387A>C (p.Ser463Arg)
|
rs771091234
|
|
NM_030777.4(SLC2A10):c.1403A>G (p.Asp468Gly)
|
|
|
NM_030777.4(SLC2A10):c.1408A>T (p.Ile470Phe)
|
|
|
NM_030777.4(SLC2A10):c.1412G>A (p.Gly471Asp)
|
|
|
NM_030777.4(SLC2A10):c.1414A>T (p.Thr472Ser)
|
rs1600671602
|
|
NM_030777.4(SLC2A10):c.1448G>A (p.Gly483Glu)
|
|
|
NM_030777.4(SLC2A10):c.1456G>A (p.Ala486Thr)
|
rs759205774
|
|
NM_030777.4(SLC2A10):c.147C>G (p.Phe49Leu)
|
rs1600666532
|
|
NM_030777.4(SLC2A10):c.1489G>A (p.Val497Ile)
|
rs758538766
|
|
NM_030777.4(SLC2A10):c.1539G>C (p.Gln513His)
|
rs1334989775
|
|
NM_030777.4(SLC2A10):c.1547G>C (p.Arg516Pro)
|
rs760437795
|
|
NM_030777.4(SLC2A10):c.1548-2A>T
|
rs2123074047
|
|
NM_030777.4(SLC2A10):c.1573del (p.Gln525fs)
|
rs2123074215
|
|
NM_030777.4(SLC2A10):c.1583C>G (p.Thr528Ser)
|
rs1379143650
|
|
NM_030777.4(SLC2A10):c.1586G>C (p.Gly529Ala)
|
|
|
NM_030777.4(SLC2A10):c.1588A>G (p.Ile530Val)
|
|
|
NM_030777.4(SLC2A10):c.1604T>G (p.Ile535Ser)
|
rs2123074423
|
|
NM_030777.4(SLC2A10):c.164T>C (p.Leu55Pro)
|
rs1555887820
|
|
NM_030777.4(SLC2A10):c.193G>T (p.Gly65Cys)
|
rs1979815162
|
|
NM_030777.4(SLC2A10):c.197G>A (p.Gly66Asp)
|
rs1555887829
|
|
NM_030777.4(SLC2A10):c.1A>G (p.Met1Val)
|
|
|
NM_030777.4(SLC2A10):c.206T>C (p.Ile69Thr)
|
rs1979816863
|
|
NM_030777.4(SLC2A10):c.209A>G (p.Asp70Gly)
|
rs1979817884
|
|
NM_030777.4(SLC2A10):c.218G>A (p.Gly73Asp)
|
rs1979819377
|
|
NM_030777.4(SLC2A10):c.224A>G (p.Lys75Arg)
|
rs2123043051
|
|
NM_030777.4(SLC2A10):c.278G>T (p.Gly93Val)
|
|
|
NM_030777.4(SLC2A10):c.296C>T (p.Ala99Val)
|
|
|
NM_030777.4(SLC2A10):c.300G>C (p.Trp100Cys)
|
rs886056725
|
|
NM_030777.4(SLC2A10):c.331G>A (p.Ala111Thr)
|
|
|
NM_030777.4(SLC2A10):c.356G>A (p.Cys119Tyr)
|
|
|
NM_030777.4(SLC2A10):c.365A>G (p.Tyr122Cys)
|
rs1979838213
|
|
NM_030777.4(SLC2A10):c.370T>C (p.Ser124Pro)
|
|
|
NM_030777.4(SLC2A10):c.397G>A (p.Gly133Arg)
|
rs1555887907
|
|
NM_030777.4(SLC2A10):c.421G>A (p.Ala141Thr)
|
rs756110797
|
|
NM_030777.4(SLC2A10):c.433G>A (p.Val145Met)
|
rs772308135
|
|
NM_030777.4(SLC2A10):c.476G>C (p.Gly159Ala)
|
rs983582627
|
|
NM_030777.4(SLC2A10):c.47T>C (p.Leu16Ser)
|
|
|
NM_030777.4(SLC2A10):c.4G>A (p.Gly2Ser)
|
|
|
NM_030777.4(SLC2A10):c.520C>G (p.Pro174Ala)
|
rs1271983394
|
|
NM_030777.4(SLC2A10):c.533A>G (p.Gln178Arg)
|
rs1326794091
|
|
NM_030777.4(SLC2A10):c.560C>T (p.Ala187Val)
|
rs774586340
|
|
NM_030777.4(SLC2A10):c.5G>C (p.Gly2Ala)
|
rs1555887782
|
|
NM_030777.4(SLC2A10):c.611G>A (p.Gly204Asp)
|
rs1555887956
|
|
NM_030777.4(SLC2A10):c.617C>T (p.Ala206Val)
|
rs879052180
|
|
NM_030777.4(SLC2A10):c.625C>T (p.Leu209=)
|
rs748662135
|
|
NM_030777.4(SLC2A10):c.632C>G (p.Pro211Arg)
|
|
|
NM_030777.4(SLC2A10):c.632C>T (p.Pro211Leu)
|
rs151324893
|
|
NM_030777.4(SLC2A10):c.65T>G (p.Phe22Cys)
|
rs1060502313
|
|
NM_030777.4(SLC2A10):c.673C>T (p.Arg225Cys)
|
rs199659394
|
|
NM_030777.4(SLC2A10):c.71A>T (p.Tyr24Phe)
|
rs886056724
|
|
NM_030777.4(SLC2A10):c.736G>A (p.Gly246Arg)
|
rs1568985955
|
|
NM_030777.4(SLC2A10):c.739C>A (p.Gln247Lys)
|
|
|
NM_030777.4(SLC2A10):c.797G>A (p.Gly266Glu)
|
rs369484751
|
|
NM_030777.4(SLC2A10):c.82G>A (p.Val28Ile)
|
|
|
NM_030777.4(SLC2A10):c.851C>A (p.Thr284Asn)
|
rs765689972
|
|
NM_030777.4(SLC2A10):c.8A>C (p.His3Pro)
|
rs1254965156
|
|
NM_030777.4(SLC2A10):c.905C>G (p.Ala302Gly)
|
|
|
NM_030777.4(SLC2A10):c.95C>G (p.Ala32Gly)
|
|
|
NM_030777.4(SLC2A10):c.965C>T (p.Pro322Leu)
|
rs886056726
|
|
NM_030777.4(SLC2A10):c.976G>C (p.Gly326Arg)
|
rs1445963609
|
|
NM_030777.4(SLC2A10):c.977G>A (p.Gly326Asp)
|
|
|
NM_030777.4(SLC2A10):c.979C>A (p.Pro327Thr)
|
|
|
NM_030777.4(SLC2A10):c.991G>T (p.Ala331Ser)
|
rs2123049348
|
|
NM_031229.4(RBCK1):c.1016G>A (p.Arg339Lys)
|
rs2122282675
|
|
NM_031229.4(RBCK1):c.1049A>G (p.Tyr350Cys)
|
|
|
NM_031229.4(RBCK1):c.1069G>A (p.Gly357Ser)
|
rs2122324503
|
|
NM_031229.4(RBCK1):c.1094G>T (p.Ser365Ile)
|
|
|
NM_031229.4(RBCK1):c.1129_1130delinsCT (p.Lys377Leu)
|
|
|
NM_031229.4(RBCK1):c.1153G>T (p.Asp385Tyr)
|
|
|
NM_031229.4(RBCK1):c.1164G>C (p.Glu388Asp)
|
|
|
NM_031229.4(RBCK1):c.1209+6G>T
|
|
|
NM_031229.4(RBCK1):c.1238A>G (p.Glu413Gly)
|
|
|
NM_031229.4(RBCK1):c.1276G>A (p.Val426Met)
|
rs763071132
|
|
NM_031229.4(RBCK1):c.1286G>A (p.Arg429Gln)
|
|
|
NM_031229.4(RBCK1):c.1292C>T (p.Thr431Met)
|
|
|
NM_031229.4(RBCK1):c.1302G>T (p.Met434Ile)
|
rs1600315243
|
|
NM_031229.4(RBCK1):c.1309-9C>T
|
|
|
NM_031229.4(RBCK1):c.1309G>A (p.Val437Met)
|
|
|
NM_031229.4(RBCK1):c.1357G>A (p.Val453Met)
|
|
|
NM_031229.4(RBCK1):c.1368G>T (p.Lys456Asn)
|
|
|
NM_031229.4(RBCK1):c.1369A>G (p.Lys457Glu)
|
|
|
NM_031229.4(RBCK1):c.1384T>C (p.Trp462Arg)
|
|
|
NM_031229.4(RBCK1):c.1390C>G (p.Arg464Gly)
|
|
|
NM_031229.4(RBCK1):c.1408A>G (p.Thr470Ala)
|
|
|
NM_031229.4(RBCK1):c.1430A>G (p.Lys477Arg)
|
|
|
NM_031229.4(RBCK1):c.143A>C (p.Glu48Ala)
|
rs756720324
|
|
NM_031229.4(RBCK1):c.1452+6T>C
|
rs2122339130
|
|
NM_031229.4(RBCK1):c.146T>C (p.Val49Ala)
|
rs2015609266
|
|
NM_031229.4(RBCK1):c.1495G>A (p.Gly499Arg)
|
rs2016958362
|
|
NM_031229.4(RBCK1):c.149C>T (p.Ser50Phe)
|
|
|
NM_031229.4(RBCK1):c.1514G>A (p.Ser505Asn)
|
|
|
NM_031229.4(RBCK1):c.167+3G>A
|
rs2015610951
|
|
NM_031229.4(RBCK1):c.185A>T (p.Glu62Val)
|
rs1568554230
|
|
NM_031229.4(RBCK1):c.19A>G (p.Lys7Glu)
|
|
|
NM_031229.4(RBCK1):c.205G>A (p.Val69Ile)
|
rs778362577
|
|
NM_031229.4(RBCK1):c.205G>C (p.Val69Leu)
|
rs778362577
|
|
NM_031229.4(RBCK1):c.209C>T (p.Thr70Ile)
|
|
|
NM_031229.4(RBCK1):c.227G>A (p.Arg76His)
|
|
|
NM_031229.4(RBCK1):c.227G>C (p.Arg76Pro)
|
rs772407882
|
|
NM_031229.4(RBCK1):c.242T>C (p.Val81Ala)
|
rs778228682
|
|
NM_031229.4(RBCK1):c.261+6_261+9del
|
rs754865819
|
|
NM_031229.4(RBCK1):c.262-4C>G
|
|
|
NM_031229.4(RBCK1):c.290T>C (p.Val97Ala)
|
|
|
NM_031229.4(RBCK1):c.290T>G (p.Val97Gly)
|
rs764728866
|
|
NM_031229.4(RBCK1):c.317G>A (p.Arg106Gln)
|
rs752153553
|
|
NM_031229.4(RBCK1):c.359G>A (p.Arg120Gln)
|
|
|
NM_031229.4(RBCK1):c.412C>T (p.Leu138Phe)
|
|
|
NM_031229.4(RBCK1):c.419C>T (p.Pro140Leu)
|
rs2122228193
|
|
NM_031229.4(RBCK1):c.41G>A (p.Ser14Asn)
|
rs1471676178
|
|
NM_031229.4(RBCK1):c.434G>T (p.Arg145Leu)
|
|
|
NM_031229.4(RBCK1):c.436G>A (p.Glu146Lys)
|
rs1555785275
|
|
NM_031229.4(RBCK1):c.459A>G (p.Glu153=)
|
|
|
NM_031229.4(RBCK1):c.463C>A (p.Leu155Met)
|
rs2016220877
|
|
NM_031229.4(RBCK1):c.481A>G (p.Thr161Ala)
|
rs2016222055
|
|
NM_031229.4(RBCK1):c.496G>T (p.Gly166Cys)
|
rs2122242440
|
|
NM_031229.4(RBCK1):c.508C>A (p.Pro170Thr)
|
|
|
NM_031229.4(RBCK1):c.530T>C (p.Val177Ala)
|
rs766968693
|
|
NM_031229.4(RBCK1):c.571G>A (p.Glu191Lys)
|
|
|
NM_031229.4(RBCK1):c.577C>T (p.Pro193Ser)
|
|
|
NM_031229.4(RBCK1):c.601G>T (p.Gly201Trp)
|
|
|
NM_031229.4(RBCK1):c.653G>T (p.Arg218Leu)
|
rs764357407
|
|
NM_031229.4(RBCK1):c.656C>T (p.Ala219Val)
|
|
|
NM_031229.4(RBCK1):c.658C>T (p.Arg220Cys)
|
|
|
NM_031229.4(RBCK1):c.695_742dup (p.Pro232_Leu247dup)
|
rs2016250689
|
|
NM_031229.4(RBCK1):c.697G>A (p.Asp233Asn)
|
rs1056596650
|
|
NM_031229.4(RBCK1):c.697G>C (p.Asp233His)
|
|
|
NM_031229.4(RBCK1):c.700G>C (p.Glu234Gln)
|
rs756811010
|
|
NM_031229.4(RBCK1):c.700GAG[4] (p.Glu236dup)
|
rs2016252024
|
|
NM_031229.4(RBCK1):c.704A>G (p.Glu235Gly)
|
rs2122246121
|
|
NM_031229.4(RBCK1):c.710G>A (p.Arg237Gln)
|
rs770302308
|
|
NM_031229.4(RBCK1):c.732G>T (p.Glu244Asp)
|
|
|
NM_031229.4(RBCK1):c.742C>A (p.Arg248Ser)
|
rs993862197
|
|
NM_031229.4(RBCK1):c.754C>A (p.Gln252Lys)
|
rs2016261661
|
|
NM_031229.4(RBCK1):c.757-10G>A
|
rs1472775469
|
|
NM_031229.4(RBCK1):c.757C>T (p.Arg253Trp)
|
rs867822612
|
|
NM_031229.4(RBCK1):c.758G>C (p.Arg253Pro)
|
|
|
NM_031229.4(RBCK1):c.760A>G (p.Lys254Glu)
|
rs2016380869
|
|
NM_031229.4(RBCK1):c.763CAG[3] (p.Gln258del)
|
rs770767944
|
|
NM_031229.4(RBCK1):c.763CAG[5] (p.Gln258_Glu259insGln)
|
|
|
NM_031229.4(RBCK1):c.765G>C (p.Gln255His)
|
rs1167649288
|
|
NM_031229.4(RBCK1):c.770A>G (p.Gln257Arg)
|
rs755744736
|
|
NM_031229.4(RBCK1):c.770A>T (p.Gln257Leu)
|
|
|
NM_031229.4(RBCK1):c.795C>G (p.His265Gln)
|
rs1001816526
|
|
NM_031229.4(RBCK1):c.812G>A (p.Arg271Lys)
|
|
|
NM_031229.4(RBCK1):c.832G>C (p.Glu278Gln)
|
|
|
NM_031229.4(RBCK1):c.836C>A (p.Pro279His)
|
rs778259648
|
|
NM_031229.4(RBCK1):c.845G>A (p.Cys282Tyr)
|
rs1600298063
|
|
NM_031229.4(RBCK1):c.860C>T (p.Ser287Leu)
|
|
|
NM_031229.4(RBCK1):c.874G>A (p.Gly292Ser)
|
|
|
NM_031229.4(RBCK1):c.875G>T (p.Gly292Val)
|
|
|
NM_031229.4(RBCK1):c.880G>T (p.Ala294Ser)
|
|
|
NM_031229.4(RBCK1):c.883G>C (p.Val295Leu)
|
rs765956229
|
|
NM_031229.4(RBCK1):c.883GTG[1] (p.Val296del)
|
rs2122269453
|
|
NM_031229.4(RBCK1):c.893G>A (p.Arg298His)
|
rs2016395491
|
|
NM_031229.4(RBCK1):c.907A>G (p.Thr303Ala)
|
|
|
NM_031229.4(RBCK1):c.94A>G (p.Ile32Val)
|
|
|
NM_031229.4(RBCK1):c.976A>G (p.Ile326Val)
|
|
|
NM_031229.4(RBCK1):c.986C>A (p.Thr329Asn)
|
|
|
NM_031229.4(RBCK1):c.989A>G (p.Tyr330Cys)
|
rs2122282171
|
|
NM_031229.4(RBCK1):c.992C>G (p.Ser331Trp)
|
rs781592121
|
|
NM_031229.4(RBCK1):c.994T>A (p.Cys332Ser)
|
rs2122282299
|
|
NM_031229.4(RBCK1):c.997T>C (p.Ser333Pro)
|
|
|
NM_032193.3(RNASEH2C):c.-89C>G
|
rs886048503
|
|
NM_032193.4(RNASEH2C):c.*1217G>C
|
rs886048490
|
|
NM_032193.4(RNASEH2C):c.*1378G>C
|
rs746434462
|
|
NM_032193.4(RNASEH2C):c.*1768C>T
|
rs886048486
|
|
NM_032193.4(RNASEH2C):c.*1806G>A
|
rs886048484
|
|
NM_032193.4(RNASEH2C):c.*1831G>A
|
rs886048483
|
|
NM_032193.4(RNASEH2C):c.*451C>T
|
rs886048496
|
|
NM_032193.4(RNASEH2C):c.*45_*46insG
|
rs886048498
|
|
NM_032193.4(RNASEH2C):c.*532C>G
|
rs886048495
|
|
NM_032193.4(RNASEH2C):c.*560C>T
|
rs886048494
|
|
NM_032193.4(RNASEH2C):c.*706T>A
|
rs886048493
|
|
NM_032193.4(RNASEH2C):c.*78A>G
|
rs1857332269
|
|
NM_032193.4(RNASEH2C):c.*862A>C
|
rs886048491
|
|
NM_032193.4(RNASEH2C):c.-27G>T
|
rs549471118
|
|
NM_032193.4(RNASEH2C):c.101G>A (p.Cys34Tyr)
|
rs1857361152
|
|
NM_032193.4(RNASEH2C):c.105G>C (p.Glu35Asp)
|
rs759651650
|
|
NM_032193.4(RNASEH2C):c.10G>A (p.Gly4Ser)
|
rs1857363681
|
|
NM_032193.4(RNASEH2C):c.110C>G (p.Ala37Gly)
|
|
|
NM_032193.4(RNASEH2C):c.115G>T (p.Asp39Tyr)
|
rs773527127
|
|
NM_032193.4(RNASEH2C):c.116_119dup (p.Pro41fs)
|
|
|
NM_032193.4(RNASEH2C):c.118G>C (p.Gly40Arg)
|
|
|
NM_032193.4(RNASEH2C):c.130G>C (p.Val44Leu)
|
|
|
NM_032193.4(RNASEH2C):c.133G>A (p.Gly45Arg)
|
|
|
NM_032193.4(RNASEH2C):c.136C>T (p.Arg46Cys)
|
rs1194474428
|
|
NM_032193.4(RNASEH2C):c.137G>T (p.Arg46Leu)
|
rs2135654103
|
|
NM_032193.4(RNASEH2C):c.142T>C (p.Phe48Leu)
|
rs1857359953
|
|
NM_032193.4(RNASEH2C):c.154A>G (p.Ile52Val)
|
rs1857359607
|
|
NM_032193.4(RNASEH2C):c.157C>T (p.Arg53Cys)
|
|
|
NM_032193.4(RNASEH2C):c.163G>C (p.Gly55Arg)
|
|
|
NM_032193.4(RNASEH2C):c.164G>T (p.Gly55Val)
|
rs1233458293
|
|
NM_032193.4(RNASEH2C):c.166C>G (p.Pro56Ala)
|
rs1857359394
|
|
NM_032193.4(RNASEH2C):c.172+5G>A
|
rs781232402
|
|
NM_032193.4(RNASEH2C):c.173-4C>G
|
rs886048501
|
|
NM_032193.4(RNASEH2C):c.175C>G (p.Leu59Val)
|
|
|
NM_032193.4(RNASEH2C):c.178G>A (p.Glu60Lys)
|
|
|
NM_032193.4(RNASEH2C):c.178dup (p.Glu60fs)
|
rs772940104
|
|
NM_032193.4(RNASEH2C):c.193G>A (p.Gly65Ser)
|
|
|
NM_032193.4(RNASEH2C):c.194G>A (p.Gly65Asp)
|
|
|
NM_032193.4(RNASEH2C):c.194G>T (p.Gly65Val)
|
|
|
NM_032193.4(RNASEH2C):c.196C>T (p.Arg66Cys)
|
rs2135653318
|
|
NM_032193.4(RNASEH2C):c.202C>G (p.Leu68Val)
|
rs1427683229
|
|
NM_032193.4(RNASEH2C):c.223G>C (p.Val75Leu)
|
|
|
NM_032193.4(RNASEH2C):c.22G>C (p.Ala8Pro)
|
rs2135654514
|
|
NM_032193.4(RNASEH2C):c.233G>C (p.Gly78Ala)
|
|
|
NM_032193.4(RNASEH2C):c.235C>G (p.Leu79Val)
|
rs1857352526
|
|
NM_032193.4(RNASEH2C):c.244T>C (p.Tyr82His)
|
|
|
NM_032193.4(RNASEH2C):c.245A>G (p.Tyr82Cys)
|
rs2135653148
|
|
NM_032193.4(RNASEH2C):c.251T>C (p.Met84Thr)
|
|
|
NM_032193.4(RNASEH2C):c.254T>G (p.Val85Gly)
|
|
|
NM_032193.4(RNASEH2C):c.259G>A (p.Glu87Lys)
|
|
|
NM_032193.4(RNASEH2C):c.260A>G (p.Glu87Gly)
|
rs939276490
|
|
NM_032193.4(RNASEH2C):c.261A>C (p.Glu87Asp)
|
rs1857351791
|
|
NM_032193.4(RNASEH2C):c.264_268del (p.Lys89fs)
|
|
|
NM_032193.4(RNASEH2C):c.268_269delinsGT (p.Lys90Val)
|
rs1565213438
|
|
NM_032193.4(RNASEH2C):c.269A>C (p.Lys90Thr)
|
rs772347588
|
|
NM_032193.4(RNASEH2C):c.271G>T (p.Val91Leu)
|
|
|
NM_032193.4(RNASEH2C):c.289G>A (p.Asp97Asn)
|
rs771160923
|
|
NM_032193.4(RNASEH2C):c.292C>G (p.Pro98Ala)
|
rs148186114
|
|
NM_032193.4(RNASEH2C):c.292C>T (p.Pro98Ser)
|
rs148186114
|
|
NM_032193.4(RNASEH2C):c.297G>C (p.Leu99Phe)
|
rs1390405064
|
|
NM_032193.4(RNASEH2C):c.307G>A (p.Gly103Arg)
|
rs766900205
|
|
NM_032193.4(RNASEH2C):c.307G>C (p.Gly103Arg)
|
|
|
NM_032193.4(RNASEH2C):c.311C>T (p.Thr104Ile)
|
rs1318717066
|
|
NM_032193.4(RNASEH2C):c.316G>A (p.Asp106Asn)
|
rs1379430577
|
|
NM_032193.4(RNASEH2C):c.31A>G (p.Arg11Gly)
|
rs1857363170
|
|
NM_032193.4(RNASEH2C):c.322G>A (p.Glu108Lys)
|
|
|
NM_032193.4(RNASEH2C):c.322GAG[2] (p.Glu110del)
|
|
|
NM_032193.4(RNASEH2C):c.328G>A (p.Glu110Lys)
|
rs759057632
|
|
NM_032193.4(RNASEH2C):c.328_329delinsCC (p.Glu110Pro)
|
|
|
NM_032193.4(RNASEH2C):c.32G>A (p.Arg11Lys)
|
|
|
NM_032193.4(RNASEH2C):c.332C>T (p.Pro111Leu)
|
rs113396656
|
|
NM_032193.4(RNASEH2C):c.343G>A (p.Asp115Asn)
|
|
|
NM_032193.4(RNASEH2C):c.348C>G (p.Phe116Leu)
|
rs1314714026
|
|
NM_032193.4(RNASEH2C):c.349G>C (p.Asp117His)
|
|
|
NM_032193.4(RNASEH2C):c.355T>C (p.Phe119Leu)
|
rs2135652511
|
|
NM_032193.4(RNASEH2C):c.35A>C (p.His12Pro)
|
rs765558776
|
|
NM_032193.4(RNASEH2C):c.364G>A (p.Ala122Thr)
|
|
|
NM_032193.4(RNASEH2C):c.37del (p.Arg13fs)
|
|
|
NM_032193.4(RNASEH2C):c.398G>A (p.Gly133Asp)
|
rs2135652409
|
|
NM_032193.4(RNASEH2C):c.400C>G (p.Leu134Val)
|
|
|
NM_032193.4(RNASEH2C):c.404A>G (p.Glu135Gly)
|
|
|
NM_032193.4(RNASEH2C):c.40G>C (p.Val14Leu)
|
|
|
NM_032193.4(RNASEH2C):c.419C>A (p.Pro140Gln)
|
|
|
NM_032193.4(RNASEH2C):c.425C>G (p.Ala142Gly)
|
rs1857345402
|
|
NM_032193.4(RNASEH2C):c.434G>C (p.Arg145Pro)
|
rs774773395
|
|
NM_032193.4(RNASEH2C):c.437G>C (p.Gly146Ala)
|
|
|
NM_032193.4(RNASEH2C):c.439G>A (p.Ala147Thr)
|
rs1388954201
|
|
NM_032193.4(RNASEH2C):c.43C>G (p.His15Asp)
|
rs759644653
|
|
NM_032193.4(RNASEH2C):c.440C>T (p.Ala147Val)
|
rs2135652251
|
|
NM_032193.4(RNASEH2C):c.446C>G (p.Thr149Ser)
|
|
|
NM_032193.4(RNASEH2C):c.451C>T (p.Pro151Ser)
|
rs78464826
|
|
NM_032193.4(RNASEH2C):c.452C>T (p.Pro151Leu)
|
rs2135652204
|
|
NM_032193.4(RNASEH2C):c.455G>T (p.Ser152Ile)
|
rs781376271
|
|
NM_032193.4(RNASEH2C):c.468+5G>A
|
rs753880827
|
|
NM_032193.4(RNASEH2C):c.468+5G>C
|
rs753880827
|
|
NM_032193.4(RNASEH2C):c.468+8G>A
|
rs751767695
|
|
NM_032193.4(RNASEH2C):c.469-14_469-9del
|
|
|
NM_032193.4(RNASEH2C):c.470T>A (p.Ile157Asn)
|
|
|
NM_032193.4(RNASEH2C):c.473_474del (p.His158fs)
|
|
|
NM_032193.4(RNASEH2C):c.478C>A (p.Gln160Lys)
|
|
|
NM_032193.4(RNASEH2C):c.482T>C (p.Val161Ala)
|
rs2135651271
|
|
NM_032193.4(RNASEH2C):c.491A>T (p.Asp164Val)
|
rs771823743
|
|
NM_032193.4(RNASEH2C):c.495A>C (p.Ter165Cys)
|
rs749473518
|
|
NM_032193.4(RNASEH2C):c.49C>A (p.Arg17Ser)
|
rs1857362640
|
|
NM_032193.4(RNASEH2C):c.5A>C (p.Glu2Ala)
|
|
|
NM_032193.4(RNASEH2C):c.70G>T (p.Ala24Ser)
|
rs2135654326
|
|
NM_032193.4(RNASEH2C):c.71C>T (p.Ala24Val)
|
|
|
NM_032193.4(RNASEH2C):c.85C>G (p.Leu29Val)
|
|
|
NM_032638.5(GATA2):c.1148A>G (p.Asn383Ser)
|
rs2068625752
|
|
NM_032638.5(GATA2):c.1202C>G (p.Ser401Cys)
|
|
|
NM_032638.5(GATA2):c.1215G>T (p.Lys405Asn)
|
rs779797858
|
|
NM_032638.5(GATA2):c.1267G>A (p.Glu423Lys)
|
rs758517602
|
|
NM_032638.5(GATA2):c.1333C>G (p.Pro445Ala)
|
|
|
NM_032638.5(GATA2):c.1423A>T (p.Met475Leu)
|
rs1429596189
|
|
NM_032638.5(GATA2):c.154C>G (p.Leu52Val)
|
|
|
NM_032638.5(GATA2):c.238A>G (p.Thr80Ala)
|
|
|
NM_032638.5(GATA2):c.259C>T (p.Pro87Ser)
|
|
|
NM_032638.5(GATA2):c.283T>G (p.Leu95Val)
|
|
|
NM_032638.5(GATA2):c.308C>T (p.Ala103Val)
|
rs2068698528
|
|
NM_032638.5(GATA2):c.424C>T (p.Pro142Ser)
|
rs2068696200
|
|
NM_032638.5(GATA2):c.479C>G (p.Thr160Ser)
|
rs751621459
|
|
NM_032638.5(GATA2):c.494A>T (p.His165Leu)
|
rs1559987389
|
|
NM_032638.5(GATA2):c.553C>T (p.Pro185Ser)
|
rs1373180685
|
|
NM_032638.5(GATA2):c.592G>T (p.Ala198Ser)
|
rs1576748685
|
|
NM_032638.5(GATA2):c.596G>C (p.Gly199Ala)
|
|
|
NM_032638.5(GATA2):c.598G>C (p.Gly200Arg)
|
|
|
NM_032638.5(GATA2):c.599G>C (p.Gly200Ala)
|
rs373477245
|
|
NM_032638.5(GATA2):c.64C>T (p.Pro22Ser)
|
rs1172590651
|
|
NM_032638.5(GATA2):c.706A>G (p.Met236Val)
|
rs746737860
|
|
NM_032638.5(GATA2):c.748C>T (p.Pro250Ser)
|
rs78245253
|
|
NM_032638.5(GATA2):c.7G>C (p.Val3Leu)
|
|
|
NM_032638.5(GATA2):c.843G>T (p.Lys281Asn)
|
rs2068685897
|
|
NM_032638.5(GATA2):c.85C>G (p.Leu29Val)
|
|
|
NM_033360.4(KRAS):c.*101_*106del
|
rs1339924833
|
|
NM_033629.6(TREX1):c.-11_2del (p.Met1fs)
|
|
|
NM_033629.6(TREX1):c.10C>A (p.Gln4Lys)
|
|
|
NM_033629.6(TREX1):c.113C>T (p.Ala38Val)
|
rs2040326850
|
|
NM_033629.6(TREX1):c.126T>G (p.Cys42Trp)
|
|
|
NM_033629.6(TREX1):c.127G>A (p.Ala43Thr)
|
rs780414238
|
|
NM_033629.6(TREX1):c.127G>T (p.Ala43Ser)
|
rs780414238
|
|
NM_033629.6(TREX1):c.139C>A (p.Pro47Thr)
|
rs751831423
|
|
NM_033629.6(TREX1):c.139C>T (p.Pro47Ser)
|
|
|
NM_033629.6(TREX1):c.140C>A (p.Pro47His)
|
|
|
NM_033629.6(TREX1):c.142C>T (p.Pro48Ser)
|
|
|
NM_033629.6(TREX1):c.142_144del (p.Pro48del)
|
rs748914604
|
|
NM_033629.6(TREX1):c.143C>G (p.Pro48Arg)
|
|
|
NM_033629.6(TREX1):c.143C>T (p.Pro48Leu)
|
rs2040328677
|
|
NM_033629.6(TREX1):c.14C>A (p.Ala5Asp)
|
|
|
NM_033629.6(TREX1):c.152A>C (p.Gln51Pro)
|
rs2107256110
|
|
NM_033629.6(TREX1):c.152A>G (p.Gln51Arg)
|
|
|
NM_033629.6(TREX1):c.173C>T (p.Pro58Leu)
|
|
|
NM_033629.6(TREX1):c.178C>T (p.Pro60Ser)
|
|
|
NM_033629.6(TREX1):c.182C>A (p.Pro61Gln)
|
rs777034646
|
|
NM_033629.6(TREX1):c.182C>G (p.Pro61Arg)
|
rs777034646
|
|
NM_033629.6(TREX1):c.182C>T (p.Pro61Leu)
|
rs777034646
|
|
NM_033629.6(TREX1):c.184C>G (p.Arg62Gly)
|
|
|
NM_033629.6(TREX1):c.184C>T (p.Arg62Cys)
|
rs532286717
|
|
NM_033629.6(TREX1):c.185G>A (p.Arg62His)
|
rs547752029
|
|
NM_033629.6(TREX1):c.185G>T (p.Arg62Leu)
|
rs547752029
|
|
NM_033629.6(TREX1):c.187G>A (p.Val63Met)
|
|
|
NM_033629.6(TREX1):c.191T>C (p.Val64Ala)
|
rs763056226
|
|
NM_033629.6(TREX1):c.194A>G (p.Asp65Gly)
|
|
|
NM_033629.6(TREX1):c.206T>C (p.Leu69Pro)
|
rs2107256717
|
|
NM_033629.6(TREX1):c.209G>C (p.Cys70Ser)
|
|
|
NM_033629.6(TREX1):c.20C>G (p.Pro7Arg)
|
|
|
NM_033629.6(TREX1):c.224A>G (p.Lys75Arg)
|
|
|
NM_033629.6(TREX1):c.229T>C (p.Cys77Arg)
|
|
|
NM_033629.6(TREX1):c.22C>G (p.Pro8Ala)
|
|
|
NM_033629.6(TREX1):c.242C>T (p.Ala81Val)
|
|
|
NM_033629.6(TREX1):c.246C>A (p.Ser82Arg)
|
|
|
NM_033629.6(TREX1):c.247G>C (p.Glu83Gln)
|
|
|
NM_033629.6(TREX1):c.251T>G (p.Ile84Ser)
|
rs748535974
|
|
NM_033629.6(TREX1):c.259C>G (p.Leu87Val)
|
|
|
NM_033629.6(TREX1):c.260T>C (p.Leu87Pro)
|
|
|
NM_033629.6(TREX1):c.263G>T (p.Ser88Ile)
|
|
|
NM_033629.6(TREX1):c.26G>A (p.Gly9Glu)
|
rs2040321005
|
|
NM_033629.6(TREX1):c.271G>C (p.Val91Leu)
|
|
|
NM_033629.6(TREX1):c.277G>A (p.Ala93Thr)
|
|
|
NM_033629.6(TREX1):c.284A>C (p.His95Pro)
|
|
|
NM_033629.6(TREX1):c.287G>C (p.Gly96Ala)
|
|
|
NM_033629.6(TREX1):c.289C>T (p.Arg97Cys)
|
|
|
NM_033629.6(TREX1):c.294A>C (p.Gln98His)
|
|
|
NM_033629.6(TREX1):c.295T>C (p.Cys99Arg)
|
|
|
NM_033629.6(TREX1):c.298T>C (p.Phe100Leu)
|
|
|
NM_033629.6(TREX1):c.2T>C (p.Met1Thr)
|
rs1179208432
|
|
NM_033629.6(TREX1):c.300T>A (p.Phe100Leu)
|
rs2107257691
|
|
NM_033629.6(TREX1):c.302A>G (p.Asp101Gly)
|
|
|
NM_033629.6(TREX1):c.314C>T (p.Ala105Val)
|
|
|
NM_033629.6(TREX1):c.317A>G (p.Asn106Ser)
|
rs2040342178
|
|
NM_033629.6(TREX1):c.318C>T (p.Asn106=)
|
|
|
NM_033629.6(TREX1):c.329C>G (p.Ala110Gly)
|
|
|
NM_033629.6(TREX1):c.32T>C (p.Met11Thr)
|
|
|
NM_033629.6(TREX1):c.337C>G (p.Arg113Gly)
|
rs759594113
|
|
NM_033629.6(TREX1):c.345G>T (p.Gln115His)
|
|
|
NM_033629.6(TREX1):c.35A>G (p.Gln12Arg)
|
rs780467272
|
|
NM_033629.6(TREX1):c.374A>G (p.Asn125Ser)
|
rs757863487
|
|
NM_033629.6(TREX1):c.380A>T (p.Asp127Val)
|
|
|
NM_033629.6(TREX1):c.382_390del (p.Arg128_Asp130del)
|
|
|
NM_033629.6(TREX1):c.388G>A (p.Asp130Asn)
|
rs781051771
|
|
NM_033629.6(TREX1):c.391T>A (p.Phe131Ile)
|
|
|
NM_033629.6(TREX1):c.391T>C (p.Phe131Leu)
|
|
|
NM_033629.6(TREX1):c.391T>G (p.Phe131Val)
|
rs1064796645
|
|
NM_033629.6(TREX1):c.400C>A (p.Leu134Ile)
|
|
|
NM_033629.6(TREX1):c.403C>G (p.Gln135Glu)
|
rs746384382
|
|
NM_033629.6(TREX1):c.40C>T (p.Leu14Phe)
|
|
|
NM_033629.6(TREX1):c.410A>C (p.Glu137Ala)
|
|
|
NM_033629.6(TREX1):c.412C>G (p.Leu138Val)
|
rs2040349486
|
|
NM_033629.6(TREX1):c.419T>C (p.Met140Thr)
|
rs2107259076
|
|
NM_033629.6(TREX1):c.425G>C (p.Gly142Ala)
|
|
|
NM_033629.6(TREX1):c.430A>T (p.Thr144Ser)
|
rs2040351031
|
|
NM_033629.6(TREX1):c.434G>A (p.Ser145Asn)
|
rs2040351297
|
|
NM_033629.6(TREX1):c.43_45dup (p.Ile15dup)
|
rs2040322179
|
|
NM_033629.6(TREX1):c.440T>C (p.Leu147Pro)
|
|
|
NM_033629.6(TREX1):c.446G>C (p.Gly149Ala)
|
|
|
NM_033629.6(TREX1):c.448G>A (p.Ala150Thr)
|
|
|
NM_033629.6(TREX1):c.453C>G (p.Phe151Leu)
|
|
|
NM_033629.6(TREX1):c.463A>G (p.Ser155Gly)
|
rs776885477
|
|
NM_033629.6(TREX1):c.466A>G (p.Ile156Val)
|
|
|
NM_033629.6(TREX1):c.467_469dup (p.Ile156dup)
|
rs1272053329
|
|
NM_033629.6(TREX1):c.468C>G (p.Ile156Met)
|
|
|
NM_033629.6(TREX1):c.469A>G (p.Thr157Ala)
|
|
|
NM_033629.6(TREX1):c.470C>G (p.Thr157Ser)
|
rs1210588757
|
|
NM_033629.6(TREX1):c.478A>C (p.Lys160Gln)
|
|
|
NM_033629.6(TREX1):c.491G>A (p.Arg164Gln)
|
rs143885312
|
|
NM_033629.6(TREX1):c.491G>C (p.Arg164Pro)
|
rs143885312
|
|
NM_033629.6(TREX1):c.491G>T (p.Arg164Leu)
|
|
|
NM_033629.6(TREX1):c.494C>A (p.Ala165Glu)
|
rs2040354615
|
|
NM_033629.6(TREX1):c.497G>C (p.Ser166Thr)
|
rs1177028457
|
|
NM_033629.6(TREX1):c.502C>T (p.Pro168Ser)
|
|
|
NM_033629.6(TREX1):c.503C>T (p.Pro168Leu)
|
|
|
NM_033629.6(TREX1):c.505T>C (p.Ser169Pro)
|
|
|
NM_033629.6(TREX1):c.508G>A (p.Glu170Lys)
|
|
|
NM_033629.6(TREX1):c.509A>G (p.Glu170Gly)
|
rs2107260081
|
|
NM_033629.6(TREX1):c.514G>A (p.Gly172Ser)
|
|
|
NM_033629.6(TREX1):c.518C>T (p.Pro173Leu)
|
|
|
NM_033629.6(TREX1):c.521G>A (p.Arg174Lys)
|
|
|
NM_033629.6(TREX1):c.524_526dup (p.Lys175_Ser176insLys)
|
|
|
NM_033629.6(TREX1):c.526A>G (p.Ser176Gly)
|
rs2107260408
|
|
NM_033629.6(TREX1):c.527G>T (p.Ser176Ile)
|
rs1464355841
|
|
NM_033629.6(TREX1):c.531_548del (p.Ser178_Tyr183del)
|
|
|
NM_033629.6(TREX1):c.536T>C (p.Leu179Pro)
|
rs886058625
|
|
NM_033629.6(TREX1):c.548A>G (p.Tyr183Cys)
|
|
|
NM_033629.6(TREX1):c.554G>A (p.Arg185His)
|
rs767157848
|
|
NM_033629.6(TREX1):c.554G>C (p.Arg185Pro)
|
|
|
NM_033629.6(TREX1):c.55A>C (p.Met19Leu)
|
rs2107255139
|
|
NM_033629.6(TREX1):c.55A>G (p.Met19Val)
|
|
|
NM_033629.6(TREX1):c.56T>C (p.Met19Thr)
|
|
|
NM_033629.6(TREX1):c.574C>T (p.Pro192Ser)
|
|
|
NM_033629.6(TREX1):c.578A>G (p.Asp193Gly)
|
rs1575293494
|
|
NM_033629.6(TREX1):c.589G>A (p.Ala197Thr)
|
|
|
NM_033629.6(TREX1):c.592G>A (p.Glu198Lys)
|
rs1416519719
|
|
NM_033629.6(TREX1):c.607G>A (p.Ala203Thr)
|
rs2107261840
|
|
NM_033629.6(TREX1):c.608C>T (p.Ala203Val)
|
rs2107261898
|
|
NM_033629.6(TREX1):c.616A>G (p.Ser206Gly)
|
|
|
NM_033629.6(TREX1):c.617G>A (p.Ser206Asn)
|
|
|
NM_033629.6(TREX1):c.621C>G (p.Ile207Met)
|
|
|
NM_033629.6(TREX1):c.623G>A (p.Cys208Tyr)
|
|
|
NM_033629.6(TREX1):c.627G>C (p.Gln209His)
|
rs748970378
|
|
NM_033629.6(TREX1):c.632G>A (p.Arg211Lys)
|
|
|
NM_033629.6(TREX1):c.633A>C (p.Arg211Ser)
|
rs1433877282
|
|
NM_033629.6(TREX1):c.638A>G (p.Gln213Arg)
|
|
|
NM_033629.6(TREX1):c.640G>A (p.Ala214Thr)
|
rs1575293697
|
|
NM_033629.6(TREX1):c.650G>A (p.Arg217Gln)
|
rs775117062
|
|
NM_033629.6(TREX1):c.655G>T (p.Val219Leu)
|
|
|
NM_033629.6(TREX1):c.662C>T (p.Ala221Val)
|
|
|
NM_033629.6(TREX1):c.664C>A (p.His222Asn)
|
|
|
NM_033629.6(TREX1):c.666C>A (p.His222Gln)
|
|
|
NM_033629.6(TREX1):c.666C>G (p.His222Gln)
|
rs1431098691
|
|
NM_033629.6(TREX1):c.676T>C (p.Phe226Leu)
|
|
|
NM_033629.6(TREX1):c.685A>G (p.Ile229Val)
|
|
|
NM_033629.6(TREX1):c.694A>G (p.Met232Val)
|
rs2040371837
|
|
NM_033629.6(TREX1):c.703del (p.Val235fs)
|
|
|
NM_033629.6(TREX1):c.704T>G (p.Val235Gly)
|
rs2107263775
|
|
NM_033629.6(TREX1):c.710_711insG (p.Ser238fs)
|
|
|
NM_033629.6(TREX1):c.733C>T (p.Pro245Ser)
|
|
|
NM_033629.6(TREX1):c.734C>G (p.Pro245Arg)
|
rs1560113388
|
|
NM_033629.6(TREX1):c.735_737dup (p.Ser246_Ala247insSer)
|
|
|
NM_033629.6(TREX1):c.736T>C (p.Ser246Pro)
|
|
|
NM_033629.6(TREX1):c.739G>A (p.Ala247Thr)
|
rs112741962
|
|
NM_033629.6(TREX1):c.746C>T (p.Thr249Ile)
|
rs759962919
|
|
NM_033629.6(TREX1):c.749C>T (p.Thr250Ile)
|
rs2040376821
|
|
NM_033629.6(TREX1):c.74C>T (p.Pro25Leu)
|
|
|
NM_033629.6(TREX1):c.752C>T (p.Thr251Ile)
|
|
|
NM_033629.6(TREX1):c.757C>G (p.His253Asp)
|
rs1236695721
|
|
NM_033629.6(TREX1):c.757C>T (p.His253Tyr)
|
|
|
NM_033629.6(TREX1):c.758A>G (p.His253Arg)
|
|
|
NM_033629.6(TREX1):c.760C>A (p.Leu254Met)
|
|
|
NM_033629.6(TREX1):c.769A>G (p.Thr257Ala)
|
|
|
NM_033629.6(TREX1):c.770C>T (p.Thr257Ile)
|
rs1447568260
|
|
NM_033629.6(TREX1):c.780_781del (p.Pro262fs)
|
|
|
NM_033629.6(TREX1):c.781A>G (p.Ser261Gly)
|
|
|
NM_033629.6(TREX1):c.787A>C (p.Ser263Arg)
|
|
|
NM_033629.6(TREX1):c.787A>G (p.Ser263Gly)
|
rs2107264871
|
|
NM_033629.6(TREX1):c.788G>A (p.Ser263Asn)
|
|
|
NM_033629.6(TREX1):c.795_802dup (p.Arg268fs)
|
rs2107264951
|
|
NM_033629.6(TREX1):c.799dup (p.Ser267fs)
|
rs2107265081
|
|
NM_033629.6(TREX1):c.802del (p.Arg268fs)
|
rs2107265153
|
|
NM_033629.6(TREX1):c.803G>A (p.Arg268Lys)
|
|
|
NM_033629.6(TREX1):c.803G>C (p.Arg268Thr)
|
rs2040380664
|
|
NM_033629.6(TREX1):c.805G>A (p.Gly269Ser)
|
|
|
NM_033629.6(TREX1):c.806G>A (p.Gly269Asp)
|
|
|
NM_033629.6(TREX1):c.806G>T (p.Gly269Val)
|
|
|
NM_033629.6(TREX1):c.815A>C (p.Asp272Ala)
|
|
|
NM_033629.6(TREX1):c.815A>T (p.Asp272Val)
|
|
|
NM_033629.6(TREX1):c.817C>G (p.Leu273Val)
|
rs2040382167
|
|
NM_033629.6(TREX1):c.817C>T (p.Leu273Phe)
|
|
|
NM_033629.6(TREX1):c.830A>G (p.Lys277Arg)
|
|
|
NM_033629.6(TREX1):c.83A>G (p.Gln28Arg)
|
rs1369567808
|
|
NM_033629.6(TREX1):c.84G>C (p.Gln28His)
|
|
|
NM_033629.6(TREX1):c.854A>T (p.Glu285Val)
|
rs2040385549
|
|
NM_033629.6(TREX1):c.857G>A (p.Gly286Glu)
|
rs2040386246
|
|
NM_033629.6(TREX1):c.858_867delinsTGGATGCTCACGCCAGGCCTTTCGGCACCATCAGGCCCATGTATGGGGTCACAGCCTCTGCTAGGACCAAGCCAAGACCATCTGCTGTCACAACCACTGCACACCTGGCCACAACCAGGAACACTAGTCCCAGCCTTGGAGAGAGCAGGGGTACCAAGGATCTTCCTCCAGTGAAGGACCCTGGAGCCCTAT (p.Leu287_Ala289delinsGlyCysSerArgGlnAlaPheArgHisHisGlnAlaHisValTrpGlyHisSerLeuCysTer)
|
rs2107266070
|
|
NM_033629.6(TREX1):c.88A>G (p.Lys30Glu)
|
|
|
NM_033629.6(TREX1):c.892A>T (p.Thr298Ser)
|
|
|
NM_033629.6(TREX1):c.895T>G (p.Leu299Val)
|
|
|
NM_033629.6(TREX1):c.899C>T (p.Ala300Val)
|
rs1553820567
|
|
NM_033629.6(TREX1):c.901G>A (p.Val301Ile)
|
|
|
NM_033629.6(TREX1):c.902dup (p.Ala302fs)
|
|
|
NM_033629.6(TREX1):c.908C>T (p.Thr303Ile)
|
rs765487310
|
|
NM_033629.6(TREX1):c.909_910del (p.Leu304fs)
|
rs1315240244
|
|
NM_033629.6(TREX1):c.913_916del (p.Tyr305fs)
|
rs778550314
|
|
NM_033629.6(TREX1):c.916G>A (p.Gly306Arg)
|
rs2040391623
|
|
NM_033629.6(TREX1):c.916G>T (p.Gly306Ter)
|
rs2040391623
|
|
NM_033629.6(TREX1):c.917G>C (p.Gly306Ala)
|
|
|
NM_033629.6(TREX1):c.91G>A (p.Val31Ile)
|
rs1057321761
|
|
NM_033629.6(TREX1):c.934C>G (p.Pro312Ala)
|
rs1265570241
|
|
NM_033629.6(TREX1):c.98A>T (p.Glu33Val)
|
|
|
NM_052845.4(MMAB):c.-11C>G
|
rs1228106972
|
|
NM_052989.3(IFT122):c.2596A>G (p.Met866Val)
|
rs2081968039
|
|
NM_052989.3(IFT122):c.2803_2805del (p.Lys935del)
|
rs746556063
|
|
NM_052989.3(IFT122):c.3051C>T (p.His1017=)
|
rs538635135
|
|
NM_052989.3(IFT122):c.536T>G (p.Ile179Arg)
|
rs769527595
|
|
NM_053025.4(MYLK):c.2838C>G (p.His946Gln)
|
rs1200981327
|
|
NM_053025.4(MYLK):c.2863T>A (p.Ser955Thr)
|
rs756451726
|
|
NM_053025.4(MYLK):c.3626C>G (p.Ser1209Cys)
|
rs1406608470
|
|
NM_054021.2(GPR101):c.924G>C (p.Glu308Asp)
|
rs73637412
|
|
NM_054027.6(ANKH):c.*1354A>G
|
rs886060080
|
|
NM_054027.6(ANKH):c.*1370C>G
|
rs191464917
|
|
NM_054027.6(ANKH):c.*1372C>A
|
rs1054095058
|
|
NM_054027.6(ANKH):c.*1423G>A
|
rs572785716
|
|
NM_054027.6(ANKH):c.*1668A>C
|
rs886060079
|
|
NM_054027.6(ANKH):c.*1753C>T
|
rs1329037667
|
|
NM_054027.6(ANKH):c.*256G>A
|
rs1265113554
|
|
NM_054027.6(ANKH):c.*2674C>A
|
rs535920930
|
|
NM_054027.6(ANKH):c.*2674C>G
|
rs535920930
|
|
NM_054027.6(ANKH):c.*3133C>A
|
rs1007599533
|
|
NM_054027.6(ANKH):c.*3224T>C
|
rs999138468
|
|
NM_054027.6(ANKH):c.*3359T>G
|
rs1736999591
|
|
NM_054027.6(ANKH):c.*3509G>C
|
rs1006427637
|
|
NM_054027.6(ANKH):c.*3664C>T
|
rs886060073
|
|
NM_054027.6(ANKH):c.*4610C>A
|
rs1050130499
|
|
NM_054027.6(ANKH):c.*4704T>G
|
rs886060071
|
|
NM_054027.6(ANKH):c.*4777C>A
|
rs991205856
|
|
NM_054027.6(ANKH):c.*4811A>G
|
rs1736946428
|
|
NM_054027.6(ANKH):c.*5593G>C
|
rs886060070
|
|
NM_054027.6(ANKH):c.*5895C>G
|
rs141264056
|
|
NM_054027.6(ANKH):c.*5898G>A
|
rs886060069
|
|
NM_054027.6(ANKH):c.*5980C>A
|
rs943017719
|
|
NM_054027.6(ANKH):c.*6368G>A
|
rs1238103899
|
|
NM_054027.6(ANKH):c.*643T>C
|
rs886060087
|
|
NM_054027.6(ANKH):c.*921A>G
|
rs886060085
|
|
NM_054027.6(ANKH):c.-87T>A
|
rs886060204
|
|
NM_054027.6(ANKH):c.585C>T (p.Leu195=)
|
rs200216941
|
|
NM_054027.6(ANKH):c.830C>T (p.Ala277Val)
|
rs1738522430
|
|
NM_054027.6(ANKH):c.897G>A (p.Val299=)
|
rs748349350
|
|
NM_054027.6(ANKH):c.97-9C>T
|
rs1739348689
|
|
NM_058172.5(ANTXR2):c.-714A>T
|
rs886059665
|
|
NM_058172.6(ANTXR2):c.*1085T>C
|
rs1726908171
|
|
NM_058172.6(ANTXR2):c.*1113C>T
|
rs554716997
|
|
NM_058172.6(ANTXR2):c.*1295T>C
|
rs956054737
|
|
NM_058172.6(ANTXR2):c.*1795G>A
|
rs1726872226
|
|
NM_058172.6(ANTXR2):c.*2187A>C
|
rs1044519123
|
|
NM_058172.6(ANTXR2):c.*2256T>C
|
rs1726855465
|
|
NM_058172.6(ANTXR2):c.*2666A>C
|
rs1726839418
|
|
NM_058172.6(ANTXR2):c.*2959C>G
|
rs1726830497
|
|
NM_058172.6(ANTXR2):c.*3212T>C
|
rs1726821073
|
|
NM_058172.6(ANTXR2):c.*3371C>A
|
rs768265599
|
|
NM_058172.6(ANTXR2):c.*3468A>G
|
rs561942463
|
|
NM_058172.6(ANTXR2):c.*3606A>G
|
rs1726804365
|
|
NM_058172.6(ANTXR2):c.*3888T>G
|
rs183636388
|
|
NM_058172.6(ANTXR2):c.*3953G>A
|
rs369116782
|
|
NM_058172.6(ANTXR2):c.*4223T>C
|
rs181339722
|
|
NM_058172.6(ANTXR2):c.*4712C>T
|
rs1726753644
|
|
NM_058172.6(ANTXR2):c.*5266A>C
|
rs1726732435
|
|
NM_058172.6(ANTXR2):c.*5310T>G
|
rs1726729431
|
|
NM_058172.6(ANTXR2):c.*5358A>G
|
rs1726727827
|
|
NM_058172.6(ANTXR2):c.*5413A>G
|
rs1726724637
|
|
NM_058172.6(ANTXR2):c.*728G>A
|
rs778332341
|
|
NM_058172.6(ANTXR2):c.-130G>A
|
rs886059659
|
|
NM_058172.6(ANTXR2):c.-169T>C
|
rs1264418120
|
|
NM_058172.6(ANTXR2):c.-261G>T
|
rs1578203683
|
|
NM_058172.6(ANTXR2):c.-262A>G
|
rs886059660
|
|
NM_058172.6(ANTXR2):c.-266G>A
|
rs1010470801
|
|
NM_058172.6(ANTXR2):c.-366G>C
|
rs886059661
|
|
NM_058172.6(ANTXR2):c.-410dup
|
rs886059662
|
|
NM_058172.6(ANTXR2):c.-455C>T
|
rs886059664
|
|
NM_058172.6(ANTXR2):c.-634C>T
|
rs897876151
|
|
NM_058172.6(ANTXR2):c.1070C>G (p.Ala357Gly)
|
rs534683576
|
|
NM_058172.6(ANTXR2):c.1247T>C (p.Val416Ala)
|
rs995416393
|
|
NM_058172.6(ANTXR2):c.390A>T (p.Gln130His)
|
|
|
NM_058172.6(ANTXR2):c.396G>T (p.Gln132His)
|
|
|
NM_058172.6(ANTXR2):c.637-10dup
|
rs373672335
|
|
NM_058172.6(ANTXR2):c.712G>A (p.Val238Ile)
|
rs768405615
|
|
NM_058172.6(ANTXR2):c.796+3A>C
|
rs1732794597
|
|
NM_080425.4(GNAS):c.1130G>T (p.Gly377Val)
|
rs778121381
|
|
NM_080628.3(TLDC2):c.*18-641T>G
|
rs886056644
|
|
NM_080628.3(TLDC2):c.*18-647C>G
|
rs1990092783
|
|
NM_080628.3(TLDC2):c.*18-812A>G
|
rs1990087887
|
|
NM_080680.3(COL11A2):c.1570C>T (p.Pro524Ser)
|
rs2150579159
|
|
NM_080680.3(COL11A2):c.2627G>T (p.Arg876Met)
|
rs745859259
|
|
NM_080680.3(COL11A2):c.4040C>T (p.Pro1347Leu)
|
rs142890313
|
|
NM_130384.3(ATRIP):c.*1024C>T
|
rs2040311705
|
|
NM_130384.3(ATRIP):c.*576G>T
|
rs886058622
|
|
NM_130384.3(ATRIP):c.*732CTGC[4]
|
rs371036312
|
|
NM_138348.6(OTULIN):c.349T>C (p.Phe117Leu)
|
|
|
NM_138348.6(OTULIN):c.469-10G>C
|
rs189738566
|
|
NM_138348.6(OTULIN):c.553G>T (p.Val185Phe)
|
rs867617260
|
|
NM_144687.3(NLRP12):c.*385T>G
|
rs2091691730
|
|
NM_144687.3(NLRP12):c.*423G>T
|
rs1033153396
|
|
NM_144687.4(NLRP12):c.1001C>G (p.Pro334Arg)
|
rs780487558
|
|
NM_144687.4(NLRP12):c.1022C>A (p.Thr341Asn)
|
|
|
NM_144687.4(NLRP12):c.1024A>T (p.Thr342Ser)
|
|
|
NM_144687.4(NLRP12):c.1027C>G (p.Arg343Gly)
|
rs112159191
|
|
NM_144687.4(NLRP12):c.1028G>C (p.Arg343Pro)
|
|
|
NM_144687.4(NLRP12):c.104C>A (p.Ala35Glu)
|
rs373357561
|
|
NM_144687.4(NLRP12):c.1051C>T (p.His351Tyr)
|
rs769279430
|
|
NM_144687.4(NLRP12):c.1055G>A (p.Arg352His)
|
|
|
NM_144687.4(NLRP12):c.1058T>A (p.Leu353Gln)
|
|
|
NM_144687.4(NLRP12):c.1060C>A (p.Leu354Met)
|
|
|
NM_144687.4(NLRP12):c.1075C>T (p.His359Tyr)
|
rs2122672202
|
|
NM_144687.4(NLRP12):c.1081G>C (p.Glu361Gln)
|
|
|
NM_144687.4(NLRP12):c.1108A>G (p.Arg370Gly)
|
rs2092052099
|
|
NM_144687.4(NLRP12):c.1118A>G (p.Tyr373Cys)
|
rs2122671544
|
|
NM_144687.4(NLRP12):c.1132T>C (p.Phe378Leu)
|
|
|
NM_144687.4(NLRP12):c.1151C>G (p.Ala384Gly)
|
|
|
NM_144687.4(NLRP12):c.1151C>T (p.Ala384Val)
|
rs1006682366
|
|
NM_144687.4(NLRP12):c.115G>A (p.Gly39Arg)
|
rs2122812698
|
|
NM_144687.4(NLRP12):c.1160T>A (p.Val387Asp)
|
rs1407939597
|
|
NM_144687.4(NLRP12):c.1162T>C (p.Phe388Leu)
|
rs2092050733
|
|
NM_144687.4(NLRP12):c.1171G>A (p.Val391Met)
|
|
|
NM_144687.4(NLRP12):c.1171G>C (p.Val391Leu)
|
|
|
NM_144687.4(NLRP12):c.1183G>A (p.Glu395Lys)
|
rs202133847
|
|
NM_144687.4(NLRP12):c.1187C>A (p.Pro396His)
|
rs896692770
|
|
NM_144687.4(NLRP12):c.1190T>C (p.Leu397Pro)
|
|
|
NM_144687.4(NLRP12):c.1196C>G (p.Thr399Ser)
|
|
|
NM_144687.4(NLRP12):c.1207G>A (p.Val403Ile)
|
rs765948822
|
|
NM_144687.4(NLRP12):c.1207G>C (p.Val403Leu)
|
rs765948822
|
|
NM_144687.4(NLRP12):c.1208T>G (p.Val403Gly)
|
|
|
NM_144687.4(NLRP12):c.1210C>T (p.Pro404Ser)
|
|
|
NM_144687.4(NLRP12):c.1223G>A (p.Trp408Ter)
|
rs774895361
|
|
NM_144687.4(NLRP12):c.1235C>T (p.Thr412Ile)
|
|
|
NM_144687.4(NLRP12):c.1246C>T (p.Gln416Ter)
|
rs200296032
|
|
NM_144687.4(NLRP12):c.1255G>C (p.Glu419Gln)
|
|
|
NM_144687.4(NLRP12):c.1258G>A (p.Gly420Ser)
|
|
|
NM_144687.4(NLRP12):c.1261G>T (p.Gly421Trp)
|
|
|
NM_144687.4(NLRP12):c.1264G>A (p.Gly422Arg)
|
rs2092047430
|
|
NM_144687.4(NLRP12):c.1266dup (p.Leu423fs)
|
|
|
NM_144687.4(NLRP12):c.1277A>G (p.Gln426Arg)
|
rs2092047033
|
|
NM_144687.4(NLRP12):c.1280C>A (p.Thr427Lys)
|
rs1383087110
|
|
NM_144687.4(NLRP12):c.1302G>A (p.Val434=)
|
rs2092046266
|
|
NM_144687.4(NLRP12):c.1308G>T (p.Met436Ile)
|
|
|
NM_144687.4(NLRP12):c.1321A>G (p.Ser441Gly)
|
|
|
NM_144687.4(NLRP12):c.1340C>T (p.Pro447Leu)
|
rs773565080
|
|
NM_144687.4(NLRP12):c.1342G>A (p.Gly448Arg)
|
rs914321661
|
|
NM_144687.4(NLRP12):c.1345G>C (p.Ala449Pro)
|
|
|
NM_144687.4(NLRP12):c.1345dup (p.Ala449fs)
|
|
|
NM_144687.4(NLRP12):c.1346C>A (p.Ala449Asp)
|
|
|
NM_144687.4(NLRP12):c.1346C>G (p.Ala449Gly)
|
rs1016647701
|
|
NM_144687.4(NLRP12):c.1350_1356dup (p.Gln453fs)
|
|
|
NM_144687.4(NLRP12):c.1355T>C (p.Leu452Pro)
|
rs1173800721
|
|
NM_144687.4(NLRP12):c.1358dup (p.Pro454fs)
|
|
|
NM_144687.4(NLRP12):c.1367C>G (p.Pro456Arg)
|
rs2122666514
|
|
NM_144687.4(NLRP12):c.1367C>T (p.Pro456Leu)
|
|
|
NM_144687.4(NLRP12):c.136G>C (p.Gly46Arg)
|
rs886054611
|
|
NM_144687.4(NLRP12):c.1370A>G (p.Asn457Ser)
|
rs2092043814
|
|
NM_144687.4(NLRP12):c.1372C>A (p.Gln458Lys)
|
rs757979953
|
|
NM_144687.4(NLRP12):c.1376G>A (p.Arg459Lys)
|
rs2122666367
|
|
NM_144687.4(NLRP12):c.1383del (p.Leu461fs)
|
|
|
NM_144687.4(NLRP12):c.1391_1408del (p.Leu464_Leu469del)
|
rs2122665998
|
|
NM_144687.4(NLRP12):c.1394C>T (p.Ala465Val)
|
rs960826983
|
|
NM_144687.4(NLRP12):c.139_203dup (p.Leu72fs)
|
|
|
NM_144687.4(NLRP12):c.1403G>C (p.Gly468Ala)
|
|
|
NM_144687.4(NLRP12):c.1408T>C (p.Trp470Arg)
|
|
|
NM_144687.4(NLRP12):c.1416G>T (p.Gln472His)
|
rs756550237
|
|
NM_144687.4(NLRP12):c.1420A>T (p.Ile474Phe)
|
rs886054609
|
|
NM_144687.4(NLRP12):c.1421T>C (p.Ile474Thr)
|
|
|
NM_144687.4(NLRP12):c.1437G>C (p.Gln479His)
|
|
|
NM_144687.4(NLRP12):c.1442T>G (p.Leu481Arg)
|
|
|
NM_144687.4(NLRP12):c.1444C>T (p.Arg482Trp)
|
|
|
NM_144687.4(NLRP12):c.1450C>T (p.His484Tyr)
|
rs2122665361
|
|
NM_144687.4(NLRP12):c.1451A>G (p.His484Arg)
|
|
|
NM_144687.4(NLRP12):c.1459G>C (p.Asp487His)
|
rs745752604
|
|
NM_144687.4(NLRP12):c.1475C>G (p.Ser492Cys)
|
|
|
NM_144687.4(NLRP12):c.1480T>C (p.Phe494Leu)
|
|
|
NM_144687.4(NLRP12):c.1487A>G (p.Asn496Ser)
|
|
|
NM_144687.4(NLRP12):c.1504_1506del (p.Lys502del)
|
rs1403147116
|
|
NM_144687.4(NLRP12):c.1518T>A (p.Cys506Ter)
|
rs757697839
|
|
NM_144687.4(NLRP12):c.1522A>G (p.Arg508Gly)
|
rs576700970
|
|
NM_144687.4(NLRP12):c.1523G>A (p.Arg508Lys)
|
rs2092040588
|
|
NM_144687.4(NLRP12):c.1524_1525dup (p.Tyr509fs)
|
|
|
NM_144687.4(NLRP12):c.1538T>C (p.Ile513Thr)
|
rs759658980
|
|
NM_144687.4(NLRP12):c.1538del (p.Ile513fs)
|
rs903100692
|
|
NM_144687.4(NLRP12):c.154G>C (p.Gly52Arg)
|
|
|
NM_144687.4(NLRP12):c.155G>A (p.Gly52Asp)
|
rs758138704
|
|
NM_144687.4(NLRP12):c.1584G>A (p.Leu528=)
|
rs2092038877
|
|
NM_144687.4(NLRP12):c.1587C>G (p.Asp529Glu)
|
rs781712648
|
|
NM_144687.4(NLRP12):c.1590G>C (p.Glu530Asp)
|
|
|
NM_144687.4(NLRP12):c.1591G>A (p.Gly531Arg)
|
rs566324385
|
|
NM_144687.4(NLRP12):c.1600G>A (p.Gly534Arg)
|
|
|
NM_144687.4(NLRP12):c.1608_1612del (p.Asp538fs)
|
|
|
NM_144687.4(NLRP12):c.1620C>A (p.Asp540Glu)
|
|
|
NM_144687.4(NLRP12):c.1621G>A (p.Val541Met)
|
rs142569357
|
|
NM_144687.4(NLRP12):c.1635G>C (p.Leu545Phe)
|
|
|
NM_144687.4(NLRP12):c.1636A>C (p.Thr546Pro)
|
rs2092037334
|
|
NM_144687.4(NLRP12):c.1639G>A (p.Glu547Lys)
|
|
|
NM_144687.4(NLRP12):c.1639G>C (p.Glu547Gln)
|
rs760475376
|
|
NM_144687.4(NLRP12):c.1649T>C (p.Phe550Ser)
|
|
|
NM_144687.4(NLRP12):c.1651T>G (p.Ser551Ala)
|
rs2122662116
|
|
NM_144687.4(NLRP12):c.1666C>G (p.Leu556Val)
|
|
|
NM_144687.4(NLRP12):c.1672C>T (p.Leu558Phe)
|
rs779482271
|
|
NM_144687.4(NLRP12):c.1681C>T (p.Arg561Cys)
|
rs747435135
|
|
NM_144687.4(NLRP12):c.1682G>A (p.Arg561His)
|
|
|
NM_144687.4(NLRP12):c.1685T>G (p.Phe562Cys)
|
rs2122661467
|
|
NM_144687.4(NLRP12):c.1694G>A (p.Gly565Glu)
|
rs1235884586
|
|
NM_144687.4(NLRP12):c.1704C>G (p.Asn568Lys)
|
rs758740079
|
|
NM_144687.4(NLRP12):c.1709A>C (p.Glu570Ala)
|
|
|
NM_144687.4(NLRP12):c.1732_1733del (p.Cys580fs)
|
rs1568677542
|
|
NM_144687.4(NLRP12):c.1738T>C (p.Cys580Arg)
|
rs1273259606
|
|
NM_144687.4(NLRP12):c.1739G>C (p.Cys580Ser)
|
rs774065257
|
|
NM_144687.4(NLRP12):c.1746G>T (p.Lys582Asn)
|
|
|
NM_144687.4(NLRP12):c.1751CGC[1] (p.Pro585del)
|
rs1568677341
|
|
NM_144687.4(NLRP12):c.1755_1756delinsCT (p.His586Tyr)
|
rs2092033365
|
|
NM_144687.4(NLRP12):c.1756C>A (p.His586Asn)
|
rs772704000
|
|
NM_144687.4(NLRP12):c.1757A>C (p.His586Pro)
|
|
|
NM_144687.4(NLRP12):c.176_183del (p.Leu59fs)
|
rs1307106759
|
|
NM_144687.4(NLRP12):c.1780T>C (p.Trp594Arg)
|
|
|
NM_144687.4(NLRP12):c.1804G>A (p.Asp602Asn)
|
|
|
NM_144687.4(NLRP12):c.1807_1814del (p.Gly603fs)
|
rs775762941
|
|
NM_144687.4(NLRP12):c.1819C>A (p.Gln607Lys)
|
|
|
NM_144687.4(NLRP12):c.1820A>G (p.Gln607Arg)
|
rs370229918
|
|
NM_144687.4(NLRP12):c.1832T>C (p.Leu611Ser)
|
|
|
NM_144687.4(NLRP12):c.1834G>A (p.Glu612Lys)
|
rs2122658928
|
|
NM_144687.4(NLRP12):c.1835A>C (p.Glu612Ala)
|
|
|
NM_144687.4(NLRP12):c.1842C>G (p.Phe614Leu)
|
|
|
NM_144687.4(NLRP12):c.1850_1863del (p.Cys616_Leu617insTer)
|
|
|
NM_144687.4(NLRP12):c.1851G>C (p.Leu617Phe)
|
rs1179439001
|
|
NM_144687.4(NLRP12):c.1855G>C (p.Glu619Gln)
|
|
|
NM_144687.4(NLRP12):c.1856A>G (p.Glu619Gly)
|
|
|
NM_144687.4(NLRP12):c.1864GAG[2] (p.Glu624del)
|
rs746405537
|
|
NM_144687.4(NLRP12):c.1867G>A (p.Glu623Lys)
|
rs2092030387
|
|
NM_144687.4(NLRP12):c.1878C>G (p.Ile626Met)
|
rs2092030072
|
|
NM_144687.4(NLRP12):c.1884G>T (p.Gln628His)
|
|
|
NM_144687.4(NLRP12):c.1893C>A (p.Ser631Arg)
|
rs2122657897
|
|
NM_144687.4(NLRP12):c.1894C>T (p.His632Tyr)
|
rs1600706886
|
|
NM_144687.4(NLRP12):c.1895A>G (p.His632Arg)
|
rs916557452
|
|
NM_144687.4(NLRP12):c.1898T>G (p.Phe633Cys)
|
rs763997556
|
|
NM_144687.4(NLRP12):c.1901A>T (p.Gln634Leu)
|
|
|
NM_144687.4(NLRP12):c.1908C>A (p.Ile636=)
|
rs1454297839
|
|
NM_144687.4(NLRP12):c.1909G>A (p.Val637Met)
|
rs1254553227
|
|
NM_144687.4(NLRP12):c.1909G>T (p.Val637Leu)
|
rs1254553227
|
|
NM_144687.4(NLRP12):c.1912G>A (p.Val638Ile)
|
|
|
NM_144687.4(NLRP12):c.1915A>G (p.Ser639Gly)
|
|
|
NM_144687.4(NLRP12):c.1929del (p.Lys644fs)
|
|
|
NM_144687.4(NLRP12):c.1933A>G (p.Met645Val)
|
rs1310368043
|
|
NM_144687.4(NLRP12):c.193G>A (p.Gly65Arg)
|
|
|
NM_144687.4(NLRP12):c.193G>C (p.Gly65Arg)
|
rs376902606
|
|
NM_144687.4(NLRP12):c.1944G>C (p.Met648Ile)
|
rs2092028098
|
|
NM_144687.4(NLRP12):c.1948T>C (p.Ser650Pro)
|
rs769279292
|
|
NM_144687.4(NLRP12):c.194G>C (p.Gly65Ala)
|
rs2122811779
|
|
NM_144687.4(NLRP12):c.1951T>A (p.Ser651Thr)
|
|
|
NM_144687.4(NLRP12):c.1952C>A (p.Ser651Ter)
|
rs781361326
|
|
NM_144687.4(NLRP12):c.1960C>G (p.Leu654Val)
|
|
|
NM_144687.4(NLRP12):c.1966C>T (p.Arg656Cys)
|
rs1183145840
|
|
NM_144687.4(NLRP12):c.1973G>A (p.Arg658Lys)
|
|
|
NM_144687.4(NLRP12):c.1983G>C (p.Gln661His)
|
rs2092026599
|
|
NM_144687.4(NLRP12):c.1988T>C (p.Leu663Pro)
|
|
|
NM_144687.4(NLRP12):c.1990C>T (p.His664Tyr)
|
rs1555795695
|
|
NM_144687.4(NLRP12):c.1990dup (p.His664fs)
|
|
|
NM_144687.4(NLRP12):c.1A>T (p.Met1Leu)
|
rs1386409873
|
|
NM_144687.4(NLRP12):c.2005A>G (p.Thr669Ala)
|
rs551922611
|
|
NM_144687.4(NLRP12):c.2013C>T (p.Ser671=)
|
rs781329641
|
|
NM_144687.4(NLRP12):c.2020G>C (p.Gly674Arg)
|
|
|
NM_144687.4(NLRP12):c.2028C>A (p.Asp676Glu)
|
|
|
NM_144687.4(NLRP12):c.2032G>A (p.Ala678Thr)
|
rs1204554159
|
|
NM_144687.4(NLRP12):c.2032G>T (p.Ala678Ser)
|
rs1204554159
|
|
NM_144687.4(NLRP12):c.2033C>T (p.Ala678Val)
|
|
|
NM_144687.4(NLRP12):c.2037_2039dup (p.Arg679_Cys680insTrp)
|
rs2092024786
|
|
NM_144687.4(NLRP12):c.2037dup (p.Cys680fs)
|
|
|
NM_144687.4(NLRP12):c.2046A>G (p.Ala682=)
|
rs886054608
|
|
NM_144687.4(NLRP12):c.2051C>A (p.Ala684Glu)
|
rs753678830
|
|
NM_144687.4(NLRP12):c.2057C>T (p.Thr686Met)
|
rs756690369
|
|
NM_144687.4(NLRP12):c.2072+2_2072+3insTT
|
rs104895565
|
|
NM_144687.4(NLRP12):c.2072+2dup
|
rs104895565
|
|
NM_144687.4(NLRP12):c.2072T>A (p.Leu691Gln)
|
|
|
NM_144687.4(NLRP12):c.2072T>C (p.Leu691Pro)
|
rs760012636
|
|
NM_144687.4(NLRP12):c.2073-10_2073-7del
|
rs2091984016
|
|
NM_144687.4(NLRP12):c.2073-5A>G
|
rs1555795098
|
|
NM_144687.4(NLRP12):c.2078A>G (p.Glu693Gly)
|
rs1283877231
|
|
NM_144687.4(NLRP12):c.2086G>A (p.Val696Ile)
|
|
|
NM_144687.4(NLRP12):c.2089C>A (p.Leu697Met)
|
|
|
NM_144687.4(NLRP12):c.2107G>A (p.Glu703Lys)
|
|
|
NM_144687.4(NLRP12):c.2110C>T (p.His704Tyr)
|
rs1380366925
|
|
NM_144687.4(NLRP12):c.2123C>A (p.Ala708Asp)
|
rs2122636258
|
|
NM_144687.4(NLRP12):c.2126T>C (p.Leu709Pro)
|
|
|
NM_144687.4(NLRP12):c.2140A>G (p.Asn714Asp)
|
rs2122635998
|
|
NM_144687.4(NLRP12):c.2146A>G (p.Ile716Val)
|
rs2091981992
|
|
NM_144687.4(NLRP12):c.2159T>C (p.Leu720Pro)
|
|
|
NM_144687.4(NLRP12):c.2171C>T (p.Ala724Val)
|
rs201136106
|
|
NM_144687.4(NLRP12):c.2182C>G (p.Arg728Gly)
|
rs764354581
|
|
NM_144687.4(NLRP12):c.2183G>C (p.Arg728Pro)
|
|
|
NM_144687.4(NLRP12):c.2185G>T (p.Gly729Trp)
|
rs139938997
|
|
NM_144687.4(NLRP12):c.2188dup (p.Val730fs)
|
rs771632319
|
|
NM_144687.4(NLRP12):c.2191A>G (p.Lys731Glu)
|
|
|
NM_144687.4(NLRP12):c.2206G>A (p.Gly736Arg)
|
rs554602951
|
|
NM_144687.4(NLRP12):c.2225G>A (p.Cys742Tyr)
|
|
|
NM_144687.4(NLRP12):c.2244-10del
|
rs2122612301
|
|
NM_144687.4(NLRP12):c.2244-1G>A
|
rs1555794506
|
|
NM_144687.4(NLRP12):c.2244-22_2271del
|
|
|
NM_144687.4(NLRP12):c.2244G>A (p.Arg748=)
|
rs2122612115
|
|
NM_144687.4(NLRP12):c.2258G>T (p.Arg753Leu)
|
rs148745997
|
|
NM_144687.4(NLRP12):c.226A>C (p.Thr76Pro)
|
rs2122811413
|
|
NM_144687.4(NLRP12):c.2284C>G (p.Leu762Val)
|
rs752188739
|
|
NM_144687.4(NLRP12):c.2287T>G (p.Ser763Ala)
|
rs764833458
|
|
NM_144687.4(NLRP12):c.2299A>G (p.Ile767Val)
|
|
|
NM_144687.4(NLRP12):c.229T>G (p.Phe77Val)
|
|
|
NM_144687.4(NLRP12):c.2300T>G (p.Ile767Arg)
|
|
|
NM_144687.4(NLRP12):c.231dup (p.Glu78Ter)
|
rs2092306297
|
|
NM_144687.4(NLRP12):c.2330T>C (p.Leu777Pro)
|
rs2122610100
|
|
NM_144687.4(NLRP12):c.2337C>T (p.Gly779=)
|
rs2091941014
|
|
NM_144687.4(NLRP12):c.2341G>C (p.Gly781Arg)
|
|
|
NM_144687.4(NLRP12):c.2371T>C (p.Cys791Arg)
|
|
|
NM_144687.4(NLRP12):c.2373C>T (p.Cys791=)
|
rs978653815
|
|
NM_144687.4(NLRP12):c.2374G>C (p.Glu792Gln)
|
rs753391798
|
|
NM_144687.4(NLRP12):c.2376G>T (p.Glu792Asp)
|
rs768192429
|
|
NM_144687.4(NLRP12):c.2386C>T (p.His796Tyr)
|
rs2122608585
|
|
NM_144687.4(NLRP12):c.2394G>C (p.Gln798His)
|
|
|
NM_144687.4(NLRP12):c.2398A>G (p.Arg800Gly)
|
rs922832985
|
|
NM_144687.4(NLRP12):c.2399G>A (p.Arg800Lys)
|
|
|
NM_144687.4(NLRP12):c.2406G>C (p.Gln802His)
|
rs2122608123
|
|
NM_144687.4(NLRP12):c.2417T>G (p.Leu806Trp)
|
|
|
NM_144687.4(NLRP12):c.2426G>A (p.Cys809Tyr)
|
|
|
NM_144687.4(NLRP12):c.2438C>T (p.Ser813Phe)
|
rs886054607
|
|
NM_144687.4(NLRP12):c.2440G>C (p.Gly814Arg)
|
rs149903344
|
|
NM_144687.4(NLRP12):c.2443G>T (p.Ala815Ser)
|
rs1435753276
|
|
NM_144687.4(NLRP12):c.2450A>T (p.Gln817Leu)
|
rs755657075
|
|
NM_144687.4(NLRP12):c.2459C>T (p.Ala820Val)
|
rs762058684
|
|
NM_144687.4(NLRP12):c.2464G>A (p.Val822Met)
|
rs2122593596
|
|
NM_144687.4(NLRP12):c.2468_2470delinsCTT (p.Leu823_Gly824delinsProCys)
|
rs2091916523
|
|
NM_144687.4(NLRP12):c.2470G>A (p.Gly824Ser)
|
rs372647059
|
|
NM_144687.4(NLRP12):c.2471G>A (p.Gly824Asp)
|
|
|
NM_144687.4(NLRP12):c.2480del (p.Pro827fs)
|
rs749913514
|
|
NM_144687.4(NLRP12):c.2487G>C (p.Leu829=)
|
rs143499267
|
|
NM_144687.4(NLRP12):c.2493G>C (p.Glu831Asp)
|
rs886054606
|
|
NM_144687.4(NLRP12):c.24C>A (p.Asp8Glu)
|
rs577507616
|
|
NM_144687.4(NLRP12):c.2500C>A (p.Leu834Met)
|
rs1212091388
|
|
NM_144687.4(NLRP12):c.2512G>T (p.Ala838Ser)
|
rs768588697
|
|
NM_144687.4(NLRP12):c.2520_2522delinsAGT (p.Asp841Val)
|
|
|
NM_144687.4(NLRP12):c.2526G>C (p.Leu842Phe)
|
rs2122592653
|
|
NM_144687.4(NLRP12):c.2534G>A (p.Arg845Lys)
|
|
|
NM_144687.4(NLRP12):c.2543G>A (p.Cys848Tyr)
|
|
|
NM_144687.4(NLRP12):c.2549del (p.Gly850fs)
|
rs1325684119
|
|
NM_144687.4(NLRP12):c.2586G>C (p.Trp862Cys)
|
rs1568662444
|
|
NM_144687.4(NLRP12):c.2599C>T (p.Arg867Cys)
|
rs149373778
|
|
NM_144687.4(NLRP12):c.2602C>T (p.Leu868Phe)
|
rs1600683649
|
|
NM_144687.4(NLRP12):c.2605_2607dup (p.Thr869_Ala870insThr)
|
|
|
NM_144687.4(NLRP12):c.2606C>T (p.Thr869Ile)
|
rs2091868280
|
|
NM_144687.4(NLRP12):c.2619T>G (p.Cys873Trp)
|
|
|
NM_144687.4(NLRP12):c.2620G>A (p.Asp874Asn)
|
|
|
NM_144687.4(NLRP12):c.2628_2629delinsTT (p.Ala877Ser)
|
|
|
NM_144687.4(NLRP12):c.2639_2640del (p.Leu880fs)
|
rs1342078475
|
|
NM_144687.4(NLRP12):c.2642G>C (p.Ser881Thr)
|
|
|
NM_144687.4(NLRP12):c.2652G>C (p.Gln884His)
|
|
|
NM_144687.4(NLRP12):c.2654G>A (p.Ser885Asn)
|
rs760285772
|
|
NM_144687.4(NLRP12):c.265G>A (p.Gly89Arg)
|
rs753292620
|
|
NM_144687.4(NLRP12):c.265G>C (p.Gly89Arg)
|
|
|
NM_144687.4(NLRP12):c.2661_2664del (p.Arg887fs)
|
rs2091866608
|
|
NM_144687.4(NLRP12):c.2663_2664del (p.Glu888fs)
|
rs2091866608
|
|
NM_144687.4(NLRP12):c.2666T>A (p.Leu889Gln)
|
rs534132036
|
|
NM_144687.4(NLRP12):c.2666T>C (p.Leu889Pro)
|
|
|
NM_144687.4(NLRP12):c.2670C>G (p.Asp890Glu)
|
rs2122563335
|
|
NM_144687.4(NLRP12):c.2722C>T (p.Leu908Phe)
|
|
|
NM_144687.4(NLRP12):c.2735C>T (p.Thr912Met)
|
|
|
NM_144687.4(NLRP12):c.2739C>G (p.Cys913Trp)
|
rs2122562229
|
|
NM_144687.4(NLRP12):c.2741A>G (p.Lys914Arg)
|
|
|
NM_144687.4(NLRP12):c.2754G>A (p.Leu918=)
|
rs61741347
|
|
NM_144687.4(NLRP12):c.2756+3G>A
|
|
|
NM_144687.4(NLRP12):c.2756+5G>C
|
|
|
NM_144687.4(NLRP12):c.2764_2778del (p.Ile922_Gly926del)
|
|
|
NM_144687.4(NLRP12):c.2765T>G (p.Ile922Ser)
|
rs767041308
|
|
NM_144687.4(NLRP12):c.2766C>T (p.Ile922=)
|
rs1430424840
|
|
NM_144687.4(NLRP12):c.2772_2785dup (p.Ala929fs)
|
|
|
NM_144687.4(NLRP12):c.2782G>T (p.Ala928Ser)
|
|
|
NM_144687.4(NLRP12):c.2791G>A (p.Glu931Lys)
|
|
|
NM_144687.4(NLRP12):c.2797_2799dup (p.Leu933dup)
|
rs2122532843
|
|
NM_144687.4(NLRP12):c.2816C>G (p.Ala939Gly)
|
rs2122532604
|
|
NM_144687.4(NLRP12):c.2825A>G (p.Asn942Ser)
|
rs1220727074
|
|
NM_144687.4(NLRP12):c.2830C>A (p.Arg944=)
|
rs104895570
|
|
NM_144687.4(NLRP12):c.2830C>T (p.Arg944Trp)
|
rs104895570
|
|
NM_144687.4(NLRP12):c.2837T>C (p.Leu946Pro)
|
|
|
NM_144687.4(NLRP12):c.283G>C (p.Val95Leu)
|
rs763354608
|
|
NM_144687.4(NLRP12):c.2844G>C (p.Leu948Phe)
|
|
|
NM_144687.4(NLRP12):c.2853C>A (p.Asn951Lys)
|
rs376516191
|
|
NM_144687.4(NLRP12):c.2889G>C (p.Glu963Asp)
|
|
|
NM_144687.4(NLRP12):c.289+6G>A
|
|
|
NM_144687.4(NLRP12):c.2898A>T (p.Gln966His)
|
rs2091805877
|
|
NM_144687.4(NLRP12):c.290-13A>G
|
|
|
NM_144687.4(NLRP12):c.2905G>A (p.Ala969Thr)
|
rs754537076
|
|
NM_144687.4(NLRP12):c.2905G>C (p.Ala969Pro)
|
rs754537076
|
|
NM_144687.4(NLRP12):c.2910_2911delinsTT (p.Arg971Ter)
|
|
|
NM_144687.4(NLRP12):c.2926_2927del (p.Trp976fs)
|
rs764265930
|
|
NM_144687.4(NLRP12):c.2931G>A (p.Leu977=)
|
rs2122506609
|
|
NM_144687.4(NLRP12):c.2938T>C (p.Cys980Arg)
|
|
|
NM_144687.4(NLRP12):c.2948C>A (p.Thr983Lys)
|
|
|
NM_144687.4(NLRP12):c.2954A>T (p.Lys985Met)
|
|
|
NM_144687.4(NLRP12):c.2960G>C (p.Cys987Ser)
|
|
|
NM_144687.4(NLRP12):c.296C>T (p.Pro99Leu)
|
rs1271514228
|
|
NM_144687.4(NLRP12):c.2980C>G (p.Leu994Val)
|
|
|
NM_144687.4(NLRP12):c.2990A>T (p.Asn997Ile)
|
rs2091750724
|
|
NM_144687.4(NLRP12):c.2990_2993del (p.Asn997fs)
|
rs2091750503
|
|
NM_144687.4(NLRP12):c.2991C>G (p.Asn997Lys)
|
rs1334288624
|
|
NM_144687.4(NLRP12):c.2T>C (p.Met1Thr)
|
rs2092309461
|
|
NM_144687.4(NLRP12):c.3004G>C (p.Asp1002His)
|
|
|
NM_144687.4(NLRP12):c.301G>A (p.Gly101Ser)
|
rs2092134890
|
|
NM_144687.4(NLRP12):c.3020A>G (p.Asn1007Ser)
|
|
|
NM_144687.4(NLRP12):c.3024C>A (p.Asn1008Lys)
|
|
|
NM_144687.4(NLRP12):c.3025G>T (p.Ala1009Ser)
|
rs1256306834
|
|
NM_144687.4(NLRP12):c.3028del (p.Ala1009_Leu1010insTer)
|
rs2091749130
|
|
NM_144687.4(NLRP12):c.3038C>A (p.Thr1013Lys)
|
rs538392013
|
|
NM_144687.4(NLRP12):c.3039_3040del (p.Gly1014fs)
|
|
|
NM_144687.4(NLRP12):c.3047G>A (p.Arg1016Gln)
|
|
|
NM_144687.4(NLRP12):c.3061C>T (p.Arg1021Trp)
|
|
|
NM_144687.4(NLRP12):c.3062G>A (p.Arg1021Gln)
|
rs769192403
|
|
NM_144687.4(NLRP12):c.3065T>G (p.Leu1022Arg)
|
rs1568654178
|
|
NM_144687.4(NLRP12):c.3068del (p.Ser1023fs)
|
|
|
NM_144687.4(NLRP12):c.306C>T (p.Gly102=)
|
rs745452377
|
|
NM_144687.4(NLRP12):c.3078_3098+1del
|
rs1064796908
|
|
NM_144687.4(NLRP12):c.3079T>C (p.Cys1027Arg)
|
|
|
NM_144687.4(NLRP12):c.3088C>G (p.Arg1030Gly)
|
rs201619538
|
|
NM_144687.4(NLRP12):c.3088C>T (p.Arg1030Ter)
|
rs201619538
|
|
NM_144687.4(NLRP12):c.3092T>A (p.Val1031Asp)
|
rs2122504184
|
|
NM_144687.4(NLRP12):c.3098+4A>G
|
|
|
NM_144687.4(NLRP12):c.3098+6G>T
|
|
|
NM_144687.4(NLRP12):c.3099G>T (p.Trp1033Cys)
|
rs1348599488
|
|
NM_144687.4(NLRP12):c.3106G>A (p.Gly1036Arg)
|
rs2122482565
|
|
NM_144687.4(NLRP12):c.3120_3122dup (p.Asn1040_Lys1041insAsn)
|
|
|
NM_144687.4(NLRP12):c.3136A>G (p.Arg1046Gly)
|
rs934460879
|
|
NM_144687.4(NLRP12):c.3149T>A (p.Leu1050His)
|
|
|
NM_144687.4(NLRP12):c.3152G>C (p.Arg1051Pro)
|
rs777108086
|
|
NM_144687.4(NLRP12):c.3159A>G (p.Thr1053=)
|
rs747279509
|
|
NM_144687.4(NLRP12):c.3160A>G (p.Lys1054Glu)
|
rs1451264761
|
|
NM_144687.4(NLRP12):c.318T>G (p.Leu106=)
|
rs2092134647
|
|
NM_144687.4(NLRP12):c.331A>C (p.Thr111Pro)
|
|
|
NM_144687.4(NLRP12):c.331A>G (p.Thr111Ala)
|
|
|
NM_144687.4(NLRP12):c.349T>C (p.Ser117Pro)
|
rs1290493565
|
|
NM_144687.4(NLRP12):c.350C>G (p.Ser117Cys)
|
|
|
NM_144687.4(NLRP12):c.355G>T (p.Val119Phe)
|
|
|
NM_144687.4(NLRP12):c.362C>G (p.Pro121Arg)
|
|
|
NM_144687.4(NLRP12):c.371-14T>G
|
|
|
NM_144687.4(NLRP12):c.371-8T>C
|
rs2122684543
|
|
NM_144687.4(NLRP12):c.377A>C (p.Gln126Pro)
|
rs377242049
|
|
NM_144687.4(NLRP12):c.383C>T (p.Thr128Ile)
|
|
|
NM_144687.4(NLRP12):c.387C>A (p.Tyr129Ter)
|
rs749761816
|
|
NM_144687.4(NLRP12):c.391G>A (p.Asp131Asn)
|
rs2122684214
|
|
NM_144687.4(NLRP12):c.393C>G (p.Asp131Glu)
|
|
|
NM_144687.4(NLRP12):c.405G>T (p.Arg135Ser)
|
|
|
NM_144687.4(NLRP12):c.411C>A (p.Phe137Leu)
|
|
|
NM_144687.4(NLRP12):c.421del (p.Glu141fs)
|
|
|
NM_144687.4(NLRP12):c.430A>C (p.Asn144His)
|
|
|
NM_144687.4(NLRP12):c.430A>G (p.Asn144Asp)
|
|
|
NM_144687.4(NLRP12):c.431A>C (p.Asn144Thr)
|
rs2122683509
|
|
NM_144687.4(NLRP12):c.434C>T (p.Ala145Val)
|
rs780751328
|
|
NM_144687.4(NLRP12):c.437G>T (p.Arg146Leu)
|
|
|
NM_144687.4(NLRP12):c.442G>A (p.Gly148Arg)
|
rs757517539
|
|
NM_144687.4(NLRP12):c.455dup (p.Asn152fs)
|
rs759034762
|
|
NM_144687.4(NLRP12):c.466C>T (p.Arg156Trp)
|
rs145803984
|
|
NM_144687.4(NLRP12):c.467G>T (p.Arg156Leu)
|
rs753636285
|
|
NM_144687.4(NLRP12):c.473C>G (p.Thr158Ser)
|
rs760404956
|
|
NM_144687.4(NLRP12):c.473C>T (p.Thr158Ile)
|
|
|
NM_144687.4(NLRP12):c.476G>A (p.Arg159Gln)
|
|
|
NM_144687.4(NLRP12):c.48C>G (p.Tyr16Ter)
|
|
|
NM_144687.4(NLRP12):c.496C>A (p.His166Asn)
|
|
|
NM_144687.4(NLRP12):c.505C>T (p.Pro169Ser)
|
|
|
NM_144687.4(NLRP12):c.524A>G (p.Gln175Arg)
|
rs2092067719
|
|
NM_144687.4(NLRP12):c.526C>T (p.Leu176Phe)
|
rs777079738
|
|
NM_144687.4(NLRP12):c.539G>A (p.Gly180Asp)
|
rs553635077
|
|
NM_144687.4(NLRP12):c.551C>G (p.Ala184Gly)
|
|
|
NM_144687.4(NLRP12):c.551C>T (p.Ala184Val)
|
rs2092066775
|
|
NM_144687.4(NLRP12):c.575G>T (p.Ser192Ile)
|
rs774008748
|
|
NM_144687.4(NLRP12):c.575del (p.Ser192fs)
|
|
|
NM_144687.4(NLRP12):c.581T>C (p.Ile194Thr)
|
rs1177743594
|
|
NM_144687.4(NLRP12):c.593C>T (p.Thr198Ile)
|
|
|
NM_144687.4(NLRP12):c.606A>G (p.Pro202=)
|
rs747390376
|
|
NM_144687.4(NLRP12):c.608_609delinsTT (p.Asp203Val)
|
rs2122680898
|
|
NM_144687.4(NLRP12):c.616C>A (p.Arg206Ser)
|
rs111754022
|
|
NM_144687.4(NLRP12):c.616C>T (p.Arg206Cys)
|
rs111754022
|
|
NM_144687.4(NLRP12):c.617G>A (p.Arg206His)
|
rs139461508
|
|
NM_144687.4(NLRP12):c.617G>T (p.Arg206Leu)
|
|
|
NM_144687.4(NLRP12):c.61G>A (p.Glu21Lys)
|
|
|
NM_144687.4(NLRP12):c.62A>C (p.Glu21Ala)
|
|
|
NM_144687.4(NLRP12):c.62A>T (p.Glu21Val)
|
|
|
NM_144687.4(NLRP12):c.631C>A (p.Arg211Ser)
|
rs561178624
|
|
NM_144687.4(NLRP12):c.634A>C (p.Thr212Pro)
|
rs1162807112
|
|
NM_144687.4(NLRP12):c.634_636dup (p.Thr212_Val213insThr)
|
|
|
NM_144687.4(NLRP12):c.637G>A (p.Val213Met)
|
rs762132235
|
|
NM_144687.4(NLRP12):c.650dup (p.Ala218fs)
|
rs2122680092
|
|
NM_144687.4(NLRP12):c.652G>A (p.Ala218Thr)
|
|
|
NM_144687.4(NLRP12):c.654_656delinsAGGA (p.Ala219fs)
|
rs2092063889
|
|
NM_144687.4(NLRP12):c.659G>C (p.Gly220Ala)
|
|
|
NM_144687.4(NLRP12):c.661A>G (p.Ile221Val)
|
rs1288515851
|
|
NM_144687.4(NLRP12):c.664G>A (p.Gly222Ser)
|
|
|
NM_144687.4(NLRP12):c.671C>T (p.Ser224Phe)
|
|
|
NM_144687.4(NLRP12):c.682C>T (p.His228Tyr)
|
|
|
NM_144687.4(NLRP12):c.688G>A (p.Val230Met)
|
|
|
NM_144687.4(NLRP12):c.695T>C (p.Leu232Pro)
|
rs761110604
|
|
NM_144687.4(NLRP12):c.700T>G (p.Trp234Gly)
|
|
|
NM_144687.4(NLRP12):c.706G>A (p.Asp236Asn)
|
|
|
NM_144687.4(NLRP12):c.709G>A (p.Gly237Arg)
|
|
|
NM_144687.4(NLRP12):c.709G>C (p.Gly237Arg)
|
|
|
NM_144687.4(NLRP12):c.713A>G (p.Lys238Arg)
|
|
|
NM_144687.4(NLRP12):c.716T>C (p.Leu239Pro)
|
|
|
NM_144687.4(NLRP12):c.725G>A (p.Gly242Asp)
|
rs2122678718
|
|
NM_144687.4(NLRP12):c.733_736del (p.Asp245fs)
|
rs2092061896
|
|
NM_144687.4(NLRP12):c.739C>T (p.Leu247Phe)
|
|
|
NM_144687.4(NLRP12):c.73C>G (p.Leu25Val)
|
rs1446525646
|
|
NM_144687.4(NLRP12):c.740T>A (p.Leu247His)
|
rs2122678582
|
|
NM_144687.4(NLRP12):c.742T>G (p.Phe248Val)
|
rs1286975157
|
|
NM_144687.4(NLRP12):c.748A>G (p.Ile250Val)
|
rs2092061524
|
|
NM_144687.4(NLRP12):c.748A>T (p.Ile250Phe)
|
rs2092061524
|
|
NM_144687.4(NLRP12):c.749T>A (p.Ile250Asn)
|
|
|
NM_144687.4(NLRP12):c.764T>C (p.Met255Thr)
|
rs2092061160
|
|
NM_144687.4(NLRP12):c.76AAG[1] (p.Lys27del)
|
rs2092308139
|
|
NM_144687.4(NLRP12):c.794A>G (p.Gln265Arg)
|
|
|
NM_144687.4(NLRP12):c.802A>G (p.Ile268Val)
|
rs2092060114
|
|
NM_144687.4(NLRP12):c.811T>C (p.Cys271Arg)
|
|
|
NM_144687.4(NLRP12):c.829G>A (p.Ala277Thr)
|
|
|
NM_144687.4(NLRP12):c.832C>T (p.Pro278Ser)
|
rs2122676644
|
|
NM_144687.4(NLRP12):c.833C>A (p.Pro278His)
|
|
|
NM_144687.4(NLRP12):c.835C>G (p.Leu279Val)
|
rs376185824
|
|
NM_144687.4(NLRP12):c.836_867dup (p.Leu290fs)
|
|
|
NM_144687.4(NLRP12):c.838C>T (p.Gln280Ter)
|
rs145049569
|
|
NM_144687.4(NLRP12):c.843G>C (p.Glu281Asp)
|
rs2092058829
|
|
NM_144687.4(NLRP12):c.843G>T (p.Glu281Asp)
|
|
|
NM_144687.4(NLRP12):c.851G>A (p.Arg284Gln)
|
rs537256190
|
|
NM_144687.4(NLRP12):c.863G>A (p.Arg288His)
|
|
|
NM_144687.4(NLRP12):c.865C>G (p.Leu289Val)
|
|
|
NM_144687.4(NLRP12):c.868_870del (p.Leu290del)
|
rs2122675887
|
|
NM_144687.4(NLRP12):c.896T>G (p.Leu299Arg)
|
|
|
NM_144687.4(NLRP12):c.8G>A (p.Arg3Gln)
|
|
|
NM_144687.4(NLRP12):c.902C>T (p.Pro301Leu)
|
|
|
NM_144687.4(NLRP12):c.904T>C (p.Ser302Pro)
|
|
|
NM_144687.4(NLRP12):c.908del (p.Phe303fs)
|
rs776056868
|
|
NM_144687.4(NLRP12):c.913G>C (p.Asp305His)
|
|
|
NM_144687.4(NLRP12):c.917C>T (p.Pro306Leu)
|
rs949584865
|
|
NM_144687.4(NLRP12):c.926C>A (p.Pro309His)
|
rs1410857959
|
|
NM_144687.4(NLRP12):c.930G>A (p.Trp310Ter)
|
rs1599843277
|
|
NM_144687.4(NLRP12):c.949A>C (p.Lys317Gln)
|
rs2122674313
|
|
NM_144687.4(NLRP12):c.952C>T (p.Arg318Trp)
|
rs140585311
|
|
NM_144687.4(NLRP12):c.956C>T (p.Pro319Leu)
|
rs35401786
|
|
NM_144687.4(NLRP12):c.959C>T (p.Thr320Met)
|
rs560825505
|
|
NM_144687.4(NLRP12):c.962A>C (p.Glu321Ala)
|
rs2092055408
|
|
NM_144687.4(NLRP12):c.967CTT[1] (p.Leu324del)
|
rs1568681230
|
|
NM_144687.4(NLRP12):c.978C>A (p.Ser326Arg)
|
|
|
NM_144687.4(NLRP12):c.994C>A (p.Leu332Met)
|
|
|
NM_144687.4(NLRP12):c.998T>C (p.Leu333Pro)
|
rs2092054789
|
|
NM_148919.4(PSMB8):c.*116C>T
|
rs56138642
|
|
NM_148919.4(PSMB8):c.-35C>T
|
rs886061311
|
|
NM_148919.4(PSMB8):c.103T>G (p.Phe35Val)
|
|
|
NM_148919.4(PSMB8):c.112C>A (p.Arg38=)
|
rs2127380261
|
|
NM_148919.4(PSMB8):c.127G>T (p.Ala43Ser)
|
rs780017925
|
|
NM_148919.4(PSMB8):c.133C>A (p.Pro45Thr)
|
rs776484021
|
|
NM_148919.4(PSMB8):c.134C>G (p.Pro45Arg)
|
|
|
NM_148919.4(PSMB8):c.139G>A (p.Gly47Arg)
|
|
|
NM_148919.4(PSMB8):c.144G>A (p.Met48Ile)
|
rs2127380153
|
|
NM_148919.4(PSMB8):c.148-10_148-6del
|
rs1562352647
|
|
NM_148919.4(PSMB8):c.151A>C (p.Thr51Pro)
|
rs2127378839
|
|
NM_148919.4(PSMB8):c.167C>A (p.Ser56Tyr)
|
rs886061310
|
|
NM_148919.4(PSMB8):c.167_168delinsGT (p.Ser56Cys)
|
rs1562352512
|
|
NM_148919.4(PSMB8):c.170T>C (p.Leu57Pro)
|
rs1770032427
|
|
NM_148919.4(PSMB8):c.188G>A (p.Arg63Lys)
|
rs1770030436
|
|
NM_148919.4(PSMB8):c.212A>G (p.His71Arg)
|
|
|
NM_148919.4(PSMB8):c.218C>T (p.Thr73Ile)
|
|
|
NM_148919.4(PSMB8):c.240C>T (p.Phe80=)
|
rs529946385
|
|
NM_148919.4(PSMB8):c.26C>T (p.Ala9Val)
|
rs1770128124
|
|
NM_148919.4(PSMB8):c.274G>C (p.Ala92Pro)
|
|
|
NM_148919.4(PSMB8):c.284G>T (p.Gly95Val)
|
|
|
NM_148919.4(PSMB8):c.287C>A (p.Ser96Tyr)
|
|
|
NM_148919.4(PSMB8):c.293T>G (p.Ile98Ser)
|
rs753139724
|
|
NM_148919.4(PSMB8):c.295A>G (p.Ser99Gly)
|
rs1381795628
|
|
NM_148919.4(PSMB8):c.306_307delinsAA (p.Val103Met)
|
rs371826956
|
|
NM_148919.4(PSMB8):c.331C>A (p.Pro111Thr)
|
rs1769997640
|
|
NM_148919.4(PSMB8):c.350T>C (p.Met117Thr)
|
rs1769996135
|
|
NM_148919.4(PSMB8):c.35G>T (p.Gly12Val)
|
rs1770125566
|
|
NM_148919.4(PSMB8):c.360T>G (p.Cys120Trp)
|
rs2127378014
|
|
NM_148919.4(PSMB8):c.367G>A (p.Asp123Asn)
|
rs1769994178
|
|
NM_148919.4(PSMB8):c.386G>T (p.Arg129Leu)
|
rs369078226
|
|
NM_148919.4(PSMB8):c.392T>C (p.Leu131Pro)
|
rs1295954266
|
|
NM_148919.4(PSMB8):c.408G>A (p.Arg136=)
|
|
|
NM_148919.4(PSMB8):c.408G>C (p.Arg136Ser)
|
rs764187500
|
|
NM_148919.4(PSMB8):c.430G>A (p.Glu144Lys)
|
rs1769955269
|
|
NM_148919.4(PSMB8):c.467C>T (p.Ser156Phe)
|
|
|
NM_148919.4(PSMB8):c.515T>C (p.Met172Thr)
|
rs756049842
|
|
NM_148919.4(PSMB8):c.517A>G (p.Ile173Val)
|
rs1582605795
|
|
NM_148919.4(PSMB8):c.544G>A (p.Gly182Arg)
|
rs1769920763
|
|
NM_148919.4(PSMB8):c.548T>C (p.Leu183Pro)
|
rs2127376494
|
|
NM_148919.4(PSMB8):c.562G>A (p.Glu188Lys)
|
rs1012282076
|
|
NM_148919.4(PSMB8):c.625G>A (p.Gly209Arg)
|
rs1202502842
|
|
NM_148919.4(PSMB8):c.625G>C (p.Gly209Arg)
|
rs1202502842
|
|
NM_148919.4(PSMB8):c.646C>T (p.Arg216Trp)
|
|
|
NM_148919.4(PSMB8):c.647G>A (p.Arg216Gln)
|
|
|
NM_148919.4(PSMB8):c.685C>T (p.Arg229Cys)
|
|
|
NM_148919.4(PSMB8):c.694A>C (p.Ile232Leu)
|
|
|
NM_148919.4(PSMB8):c.715G>A (p.Asp239Asn)
|
rs1554238810
|
|
NM_148919.4(PSMB8):c.727G>A (p.Gly243Arg)
|
rs2127376068
|
|
NM_148919.4(PSMB8):c.730G>A (p.Gly244Ser)
|
rs2127376054
|
|
NM_148919.4(PSMB8):c.731G>T (p.Gly244Val)
|
rs200995701
|
|
NM_148919.4(PSMB8):c.743-5C>T
|
|
|
NM_148919.4(PSMB8):c.759A>C (p.Glu253Asp)
|
|
|
NM_148919.4(PSMB8):c.778_784dup (p.Thr262fs)
|
|
|
NM_148919.4(PSMB8):c.798C>G (p.Asp266Glu)
|
rs2127375356
|
|
NM_148919.4(PSMB8):c.800T>G (p.Leu267Arg)
|
rs1554238585
|
|
NM_148919.4(PSMB8):c.807C>A (p.His269Gln)
|
|
|
NM_148919.4(PSMB8):c.812A>G (p.Tyr271Cys)
|
|
|
NM_148919.4(PSMB8):c.815G>A (p.Arg272Gln)
|
rs368551668
|
|
NM_148919.4(PSMB8):c.826_*1del (p.Gln276fs)
|
|
|
NM_148919.4(PSMB8):c.829_830del (p.Ter277MetextTer?)
|
|
|
NM_148919.4(PSMB8):c.97T>C (p.Tyr33His)
|
|
|
NM_148919.4(PSMB8):c.9_10delinsCG (p.Leu4Val)
|
rs2127380594
|
|
NM_153487.4(MDGA1):c.2674T>G (p.Phe892Val)
|
rs864309493
|
|
NM_173170.1(IL36RN):c.-27-299G>C
|
rs552166255
|
|
NM_173841.2(IL1RN):c.*1145A>G
|
rs886054779
|
|
NM_173841.3(IL1RN):c.10+4A>G
|
|
|
NM_173841.3(IL1RN):c.16T>G (p.Leu6Val)
|
rs1686715665
|
|
NM_173841.3(IL1RN):c.18G>T (p.Leu6Phe)
|
|
|
NM_173841.3(IL1RN):c.19T>C (p.Tyr7His)
|
rs2104437414
|
|
NM_173841.3(IL1RN):c.44G>A (p.Gly15Glu)
|
rs1573288353
|
|
NM_173841.3(IL1RN):c.4G>A (p.Ala2Thr)
|
rs1226009223
|
|
NM_173841.3(IL1RN):c.4G>T (p.Ala2Ser)
|
|
|
NM_173842.3(IL1RN):c.*1049A>G
|
rs886054778
|
|
NM_173842.3(IL1RN):c.*1070T>G
|
rs1687262003
|
|
NM_173842.3(IL1RN):c.*290T>A
|
rs1687235105
|
|
NM_173842.3(IL1RN):c.*350C>G
|
rs1687237466
|
|
NM_173842.3(IL1RN):c.*369T>A
|
rs886054775
|
|
NM_173842.3(IL1RN):c.*490del
|
rs565976240
|
|
NM_173842.3(IL1RN):c.*691del
|
rs4252029
|
|
NM_173842.3(IL1RN):c.109G>T (p.Ala37Ser)
|
rs1573301763
|
|
NM_173842.3(IL1RN):c.145T>C (p.Tyr49His)
|
|
|
NM_173842.3(IL1RN):c.166G>A (p.Val56Ile)
|
rs557348234
|
|
NM_173842.3(IL1RN):c.173G>T (p.Gly58Val)
|
rs1281227831
|
|
NM_173842.3(IL1RN):c.185G>A (p.Gly62Glu)
|
rs1203011392
|
|
NM_173842.3(IL1RN):c.205+8G>A
|
rs762763281
|
|
NM_173842.3(IL1RN):c.207A>G (p.Glu69=)
|
rs1274769729
|
|
NM_173842.3(IL1RN):c.210G>T (p.Lys70Asn)
|
rs2104458628
|
|
NM_173842.3(IL1RN):c.220G>A (p.Val74Ile)
|
rs775303057
|
|
NM_173842.3(IL1RN):c.245T>A (p.Phe82Tyr)
|
rs1553469985
|
|
NM_173842.3(IL1RN):c.249G>A (p.Leu83=)
|
rs1292754474
|
|
NM_173842.3(IL1RN):c.288G>A (p.Lys96=)
|
rs1442053811
|
|
NM_173842.3(IL1RN):c.306_312del (p.Arg102fs)
|
|
|
NM_173842.3(IL1RN):c.318+12C>G
|
rs561872655
|
|
NM_173842.3(IL1RN):c.318+3A>G
|
rs201701192
|
|
NM_173842.3(IL1RN):c.318+9A>T
|
rs758726151
|
|
NM_173842.3(IL1RN):c.331dup (p.Thr111fs)
|
rs1687213897
|
|
NM_173842.3(IL1RN):c.377T>C (p.Ile126Thr)
|
rs1483517191
|
|
NM_173842.3(IL1RN):c.380G>A (p.Arg127His)
|
|
|
NM_173842.3(IL1RN):c.380G>T (p.Arg127Leu)
|
rs780956028
|
|
NM_173842.3(IL1RN):c.386_389del (p.Asp129fs)
|
rs2104462417
|
|
NM_173842.3(IL1RN):c.390_391inv (p.Gly131Ser)
|
|
|
NM_173842.3(IL1RN):c.391G>T (p.Gly131Cys)
|
rs1687217114
|
|
NM_173842.3(IL1RN):c.422G>C (p.Cys141Ser)
|
rs2104462545
|
|
NM_173842.3(IL1RN):c.450G>A (p.Met150Ile)
|
rs1453476284
|
|
NM_173842.3(IL1RN):c.500T>A (p.Met167Lys)
|
rs765957403
|
|
NM_173842.3(IL1RN):c.526G>A (p.Asp176Asn)
|
rs1191497599
|
|
NM_173842.3(IL1RN):c.526G>T (p.Asp176Tyr)
|
rs1191497599
|
|
NM_173842.3(IL1RN):c.77G>A (p.Arg26Gln)
|
rs758363942
|
|
NM_173842.3(IL1RN):c.97A>G (p.Ser33Gly)
|
|
|
NM_181552.4(CUX1):c.3820A>G (p.Ile1274Val)
|
|
|
NM_183235.3(RAB27A):c.136T>A (p.Phe46Ile)
|
rs2140989874
|
|
NM_183235.3(RAB27A):c.260C>T (p.Ala87Val)
|
rs201697259
|
|
NM_183235.3(RAB27A):c.2T>C (p.Met1Thr)
|
rs141281020
|
|
NM_183235.3(RAB27A):c.596T>A (p.Val199Glu)
|
rs778390086
|
|
NM_183235.3(RAB27A):c.609T>C (p.Gly203=)
|
rs2140890943
|
|
NM_198253.3(TERT):c.1070C>G (p.Ala357Gly)
|
rs1751166833
|
|
NM_198253.3(TERT):c.124G>C (p.Gly42Arg)
|
rs1751293669
|
|
NM_198253.3(TERT):c.1304T>A (p.Val435Glu)
|
rs1561213530
|
|
NM_198253.3(TERT):c.1317GGA[2] (p.Glu441del)
|
rs377639087
|
|
NM_198253.3(TERT):c.2221G>A (p.Val741Met)
|
rs150819225
|
|
NM_198253.3(TERT):c.764C>A (p.Ser255Tyr)
|
rs1751207450
|
|
NM_198253.3(TERT):c.847A>C (p.Thr283Pro)
|
rs1295657479
|
|
NM_198253.3(TERT):c.902G>A (p.Arg301His)
|
rs1268051204
|
|
NM_198282.4(STING1):c.1013del (p.Lys338fs)
|
rs765347385
|
|
NM_198282.4(STING1):c.1015G>A (p.Glu339Lys)
|
rs1751660621
|
|
NM_198282.4(STING1):c.1021G>C (p.Val341Leu)
|
rs1751660369
|
|
NM_198282.4(STING1):c.1025C>A (p.Thr342Asn)
|
|
|
NM_198282.4(STING1):c.1025del (p.Thr342fs)
|
rs1581447916
|
|
NM_198282.4(STING1):c.1027G>A (p.Val343Met)
|
|
|
NM_198282.4(STING1):c.1028T>C (p.Val343Ala)
|
|
|
NM_198282.4(STING1):c.102G>C (p.Trp34Cys)
|
|
|
NM_198282.4(STING1):c.1061C>A (p.Thr354Asn)
|
|
|
NM_198282.4(STING1):c.1061C>T (p.Thr354Ile)
|
|
|
NM_198282.4(STING1):c.1084G>A (p.Glu362Lys)
|
|
|
NM_198282.4(STING1):c.1104G>A (p.Met368Ile)
|
rs1215030543
|
|
NM_198282.4(STING1):c.1124G>A (p.Arg375His)
|
rs117897081
|
|
NM_198282.4(STING1):c.1127C>G (p.Thr376Arg)
|
rs370381358
|
|
NM_198282.4(STING1):c.1129G>T (p.Asp377Tyr)
|
rs1368968919
|
|
NM_198282.4(STING1):c.125A>C (p.His42Pro)
|
|
|
NM_198282.4(STING1):c.128C>T (p.Thr43Ile)
|
|
|
NM_198282.4(STING1):c.133C>T (p.Arg45Trp)
|
|
|
NM_198282.4(STING1):c.159C>A (p.Ser53=)
|
rs2152094475
|
|
NM_198282.4(STING1):c.170G>T (p.Gly57Val)
|
|
|
NM_198282.4(STING1):c.211C>T (p.Arg71Cys)
|
|
|
NM_198282.4(STING1):c.212_213delinsAA (p.Arg71Gln)
|
rs1751847315
|
|
NM_198282.4(STING1):c.21T>G (p.His7Gln)
|
|
|
NM_198282.4(STING1):c.220C>T (p.His74Tyr)
|
rs745727679
|
|
NM_198282.4(STING1):c.227+10T>A
|
rs1392211552
|
|
NM_198282.4(STING1):c.227+1G>A
|
rs1751846731
|
|
NM_198282.4(STING1):c.227+4A>G
|
rs2152094440
|
|
NM_198282.4(STING1):c.228-3C>T
|
rs1751840868
|
|
NM_198282.4(STING1):c.233G>C (p.Arg78Pro)
|
rs11554775
|
|
NM_198282.4(STING1):c.257G>C (p.Arg86Pro)
|
rs777336363
|
|
NM_198282.4(STING1):c.259G>A (p.Ala87Thr)
|
|
|
NM_198282.4(STING1):c.272G>A (p.Cys91Tyr)
|
rs2152094379
|
|
NM_198282.4(STING1):c.275C>A (p.Pro92His)
|
rs1428188237
|
|
NM_198282.4(STING1):c.280C>T (p.Arg94Cys)
|
|
|
NM_198282.4(STING1):c.290C>A (p.Ala97Asp)
|
|
|
NM_198282.4(STING1):c.325C>T (p.Leu109Phe)
|
|
|
NM_198282.4(STING1):c.333T>A (p.Asn111Lys)
|
|
|
NM_198282.4(STING1):c.335C>T (p.Ala112Val)
|
|
|
NM_198282.4(STING1):c.364G>A (p.Ala122Thr)
|
|
|
NM_198282.4(STING1):c.376C>G (p.Leu126Val)
|
|
|
NM_198282.4(STING1):c.389T>C (p.Leu130Pro)
|
|
|
NM_198282.4(STING1):c.395T>A (p.Ile132Asn)
|
|
|
NM_198282.4(STING1):c.395T>G (p.Ile132Ser)
|
rs1346414429
|
|
NM_198282.4(STING1):c.397C>T (p.Leu133Phe)
|
rs2152094323
|
|
NM_198282.4(STING1):c.40del (p.Arg14fs)
|
|
|
NM_198282.4(STING1):c.411+3A>G
|
|
|
NM_198282.4(STING1):c.413G>C (p.Gly138Ala)
|
rs889105527
|
|
NM_198282.4(STING1):c.428A>C (p.Glu143Ala)
|
|
|
NM_198282.4(STING1):c.42G>A (p.Arg14=)
|
|
|
NM_198282.4(STING1):c.44dup (p.His16fs)
|
rs1581455186
|
|
NM_198282.4(STING1):c.479C>T (p.Ala160Val)
|
rs767904008
|
|
NM_198282.4(STING1):c.493A>C (p.Ile165Leu)
|
rs768359336
|
|
NM_198282.4(STING1):c.496G>T (p.Gly166Ter)
|
|
|
NM_198282.4(STING1):c.498A>G (p.Gly166=)
|
|
|
NM_198282.4(STING1):c.498A>T (p.Gly166=)
|
rs1713610226
|
|
NM_198282.4(STING1):c.505C>T (p.Arg169Trp)
|
|
|
NM_198282.4(STING1):c.520G>A (p.Glu174Lys)
|
|
|
NM_198282.4(STING1):c.524T>C (p.Leu175Pro)
|
|
|
NM_198282.4(STING1):c.529G>A (p.Ala177Thr)
|
rs2152093638
|
|
NM_198282.4(STING1):c.533G>A (p.Arg178Gln)
|
|
|
NM_198282.4(STING1):c.538C>T (p.Arg180Ter)
|
|
|
NM_198282.4(STING1):c.545A>C (p.Tyr182Ser)
|
|
|
NM_198282.4(STING1):c.551A>T (p.Gln184Leu)
|
|
|
NM_198282.4(STING1):c.5C>T (p.Pro2Leu)
|
|
|
NM_198282.4(STING1):c.602T>C (p.Leu201Pro)
|
rs1581450494
|
|
NM_198282.4(STING1):c.61_64del (p.Ala21fs)
|
|
|
NM_198282.4(STING1):c.620G>A (p.Gly207Glu)
|
|
|
NM_198282.4(STING1):c.620G>T (p.Gly207Val)
|
|
|
NM_198282.4(STING1):c.622G>A (p.Val208Met)
|
|
|
NM_198282.4(STING1):c.658C>T (p.Arg220Cys)
|
|
|
NM_198282.4(STING1):c.65C>A (p.Ala22Asp)
|
|
|
NM_198282.4(STING1):c.688G>T (p.Gly230Cys)
|
|
|
NM_198282.4(STING1):c.688_689delinsTC (p.Gly230Ser)
|
rs1751724669
|
|
NM_198282.4(STING1):c.691G>A (p.Asp231Asn)
|
|
|
NM_198282.4(STING1):c.695_696insGTGACCG (p.His232delinsGlnTer)
|
|
|
NM_198282.4(STING1):c.69G>C (p.Leu23Phe)
|
|
|
NM_198282.4(STING1):c.70G>T (p.Val24Phe)
|
|
|
NM_198282.4(STING1):c.710A>G (p.Asp237Gly)
|
rs1167471683
|
|
NM_198282.4(STING1):c.722G>C (p.Ser241Thr)
|
|
|
NM_198282.4(STING1):c.755A>G (p.Gln252Arg)
|
|
|
NM_198282.4(STING1):c.759+3A>G
|
|
|
NM_198282.4(STING1):c.760-2_766delinsTACCT
|
rs2152093375
|
|
NM_198282.4(STING1):c.777G>A (p.Leu259=)
|
|
|
NM_198282.4(STING1):c.785C>G (p.Ala262Gly)
|
rs2152093371
|
|
NM_198282.4(STING1):c.790C>T (p.Pro264Ser)
|
rs141928874
|
|
NM_198282.4(STING1):c.7C>T (p.His3Tyr)
|
rs1490896074
|
|
NM_198282.4(STING1):c.804G>C (p.Leu268Phe)
|
rs2152093364
|
|
NM_198282.4(STING1):c.808G>A (p.Ala270Thr)
|
|
|
NM_198282.4(STING1):c.826C>G (p.Gln276Glu)
|
|
|
NM_198282.4(STING1):c.844G>A (p.Glu282Lys)
|
|
|
NM_198282.4(STING1):c.845A>G (p.Glu282Gly)
|
rs1483629542
|
|
NM_198282.4(STING1):c.847G>A (p.Asp283Asn)
|
|
|
NM_198282.4(STING1):c.851G>A (p.Arg284Lys)
|
|
|
NM_198282.4(STING1):c.856G>A (p.Glu286Lys)
|
|
|
NM_198282.4(STING1):c.862G>A (p.Ala288Thr)
|
|
|
NM_198282.4(STING1):c.908C>A (p.Pro303His)
|
|
|
NM_198282.4(STING1):c.91G>T (p.Val31Leu)
|
|
|
NM_198282.4(STING1):c.92T>C (p.Val31Ala)
|
rs1321304491
|
|
NM_198282.4(STING1):c.931C>T (p.Leu311Phe)
|
|
|
NM_198282.4(STING1):c.932T>C (p.Leu311Pro)
|
|
|
NM_198282.4(STING1):c.946+5G>A
|
|
|
NM_198282.4(STING1):c.946+5G>T
|
|
|
NM_198282.4(STING1):c.946+6G>A
|
|
|
NM_198282.4(STING1):c.946+6G>C
|
|
|
NM_198282.4(STING1):c.947-3C>T
|
|
|
NM_198282.4(STING1):c.952G>C (p.Ala318Pro)
|
|
|
NM_198282.4(STING1):c.952G>T (p.Ala318Ser)
|
rs1561482019
|
|
NM_198282.4(STING1):c.95C>T (p.Thr32Ile)
|
|
|
NM_198282.4(STING1):c.979C>A (p.Gln327Lys)
|
rs201015563
|
|
NM_198282.4(STING1):c.980A>C (p.Gln327Pro)
|
|
|
NM_198282.4(STING1):c.991C>T (p.Arg331Trp)
|
|
|
NM_198291.3(SRC):c.1585C>G (p.Gln529Glu)
|
|
|
NM_198291.3(SRC):c.919C>T (p.Pro307Ser)
|
|
|
NM_199242.3(UNC13D):c.1202C>T (p.Ser401Phe)
|
rs758867274
|
|
NM_199242.3(UNC13D):c.1820G>C (p.Arg607Pro)
|
rs377293829
|
|
NM_199242.3(UNC13D):c.1857C>T (p.Pro619=)
|
rs2143877155
|
|
NM_199242.3(UNC13D):c.2410T>C (p.Tyr804His)
|
rs2143871262
|
|
NM_199242.3(UNC13D):c.2696G>A (p.Arg899Gln)
|
rs1456196107
|
|
NM_199242.3(UNC13D):c.280GAG[3] (p.Glu95dup)
|
rs772459675
|
|
NM_199242.3(UNC13D):c.3151G>A (p.Gly1051Arg)
|
rs1232542382
|
|
NM_199242.3(UNC13D):c.321+9G>A
|
rs779684660
|
|
NM_199242.3(UNC13D):c.519G>C (p.Thr173=)
|
rs370278536
|
|
NM_199242.3(UNC13D):c.570-6A>C
|
rs2143894697
|
|
NM_199242.3(UNC13D):c.629T>G (p.Val210Gly)
|
rs553365957
|
|
NM_199242.3(UNC13D):c.907C>T (p.His303Tyr)
|
rs2064936586
|
|
NM_207122.1(EXT2):c.-242G>T
|
rs1953882206
|
|
NM_207122.2(EXT2):c.*368C>T
|
rs886048279
|
|
NM_207122.2(EXT2):c.*672G>C
|
rs1956079951
|
|
NM_207122.2(EXT2):c.*882G>T
|
rs1956082516
|
|
NM_207122.2(EXT2):c.1002_1004dup (p.Leu335_Gln336insLeu)
|
|
|
NM_207122.2(EXT2):c.1016G>C (p.Cys339Ser)
|
|
|
NM_207122.2(EXT2):c.1018G>A (p.Val340Ile)
|
|
|
NM_207122.2(EXT2):c.1022C>G (p.Pro341Arg)
|
rs141035971
|
|
NM_207122.2(EXT2):c.1032T>G (p.Ile344Met)
|
rs1954415349
|
|
NM_207122.2(EXT2):c.1040C>G (p.Ser347Cys)
|
|
|
NM_207122.2(EXT2):c.1042T>G (p.Tyr348Asp)
|
|
|
NM_207122.2(EXT2):c.1050G>T (p.Leu350Phe)
|
rs747302075
|
|
NM_207122.2(EXT2):c.1066C>T (p.Leu356Phe)
|
|
|
NM_207122.2(EXT2):c.1072T>C (p.Trp358Arg)
|
|
|
NM_207122.2(EXT2):c.1072T>G (p.Trp358Gly)
|
rs2135020999
|
|
NM_207122.2(EXT2):c.1085C>T (p.Ser362Phe)
|
|
|
NM_207122.2(EXT2):c.1117G>A (p.Val373Met)
|
rs750547674
|
|
NM_207122.2(EXT2):c.1145A>G (p.Gln382Arg)
|
|
|
NM_207122.2(EXT2):c.1151A>G (p.Gln384Arg)
|
rs1590575253
|
|
NM_207122.2(EXT2):c.1154T>C (p.Ile385Thr)
|
|
|
NM_207122.2(EXT2):c.1165C>G (p.Gln389Glu)
|
rs1203844985
|
|
NM_207122.2(EXT2):c.1175C>A (p.Ala392Asp)
|
|
|
NM_207122.2(EXT2):c.1187G>C (p.Trp396Ser)
|
|
|
NM_207122.2(EXT2):c.1192G>A (p.Ala398Thr)
|
rs2135127641
|
|
NM_207122.2(EXT2):c.1211A>T (p.Lys404Ile)
|
|
|
NM_207122.2(EXT2):c.1223T>A (p.Leu408Gln)
|
|
|
NM_207122.2(EXT2):c.1223T>C (p.Leu408Pro)
|
|
|
NM_207122.2(EXT2):c.1226C>G (p.Ala409Gly)
|
rs1279920600
|
|
NM_207122.2(EXT2):c.1232_1234del (p.Leu411del)
|
|
|
NM_207122.2(EXT2):c.1244A>G (p.Asn415Ser)
|
|
|
NM_207122.2(EXT2):c.1248C>G (p.Asp416Glu)
|
|
|
NM_207122.2(EXT2):c.1250G>A (p.Arg417Gln)
|
rs753542290
|
|
NM_207122.2(EXT2):c.1285T>G (p.Trp429Gly)
|
|
|
NM_207122.2(EXT2):c.1291G>A (p.Asp431Asn)
|
rs886048276
|
|
NM_207122.2(EXT2):c.1308G>T (p.Lys436Asn)
|
|
|
NM_207122.2(EXT2):c.1312G>T (p.Gly438Cys)
|
rs775111831
|
|
NM_207122.2(EXT2):c.1328C>T (p.Pro443Leu)
|
|
|
NM_207122.2(EXT2):c.1330C>T (p.Leu444Phe)
|
|
|
NM_207122.2(EXT2):c.1340C>T (p.Pro447Leu)
|
|
|
NM_207122.2(EXT2):c.1363G>A (p.Gly455Arg)
|
|
|
NM_207122.2(EXT2):c.1370C>A (p.Thr457Asn)
|
|
|
NM_207122.2(EXT2):c.1376T>C (p.Ile459Thr)
|
|
|
NM_207122.2(EXT2):c.1394G>A (p.Arg465Gln)
|
|
|
NM_207122.2(EXT2):c.140C>T (p.Pro47Leu)
|
|
|
NM_207122.2(EXT2):c.1411C>T (p.Arg471Trp)
|
|
|
NM_207122.2(EXT2):c.1436T>A (p.Val479Glu)
|
|
|
NM_207122.2(EXT2):c.1438C>T (p.Pro480Ser)
|
|
|
NM_207122.2(EXT2):c.1448C>T (p.Ser483Phe)
|
|
|
NM_207122.2(EXT2):c.1454T>C (p.Leu485Pro)
|
|
|
NM_207122.2(EXT2):c.1458T>A (p.Leu486=)
|
rs1343630556
|
|
NM_207122.2(EXT2):c.1462G>A (p.Val488Ile)
|
|
|
NM_207122.2(EXT2):c.1462G>T (p.Val488Phe)
|
|
|
NM_207122.2(EXT2):c.1465T>C (p.Trp489Arg)
|
rs2135185580
|
|
NM_207122.2(EXT2):c.1466G>C (p.Trp489Ser)
|
|
|
NM_207122.2(EXT2):c.148A>G (p.Ile50Val)
|
|
|
NM_207122.2(EXT2):c.1495G>A (p.Asp499Asn)
|
rs1314735230
|
|
NM_207122.2(EXT2):c.1499C>G (p.Ser500Cys)
|
rs1955587849
|
|
NM_207122.2(EXT2):c.1522C>T (p.Pro508Ser)
|
|
|
NM_207122.2(EXT2):c.1565G>A (p.Arg522His)
|
rs1271452312
|
|
NM_207122.2(EXT2):c.1574C>G (p.Pro525Arg)
|
|
|
NM_207122.2(EXT2):c.1575T>A (p.Pro525=)
|
rs372914384
|
|
NM_207122.2(EXT2):c.1582G>A (p.Glu528Lys)
|
|
|
NM_207122.2(EXT2):c.1601T>A (p.Val534Asp)
|
rs1955590072
|
|
NM_207122.2(EXT2):c.1662+4A>C
|
|
|
NM_207122.2(EXT2):c.1662G>C (p.Glu554Asp)
|
|
|
NM_207122.2(EXT2):c.1669C>T (p.Arg557Trp)
|
rs768532662
|
|
NM_207122.2(EXT2):c.1684C>G (p.Arg562Gly)
|
|
|
NM_207122.2(EXT2):c.1684C>T (p.Arg562Trp)
|
|
|
NM_207122.2(EXT2):c.1700C>T (p.Pro567Leu)
|
|
|
NM_207122.2(EXT2):c.1712A>C (p.His571Pro)
|
|
|
NM_207122.2(EXT2):c.1719G>C (p.Trp573Cys)
|
|
|
NM_207122.2(EXT2):c.1724A>G (p.His575Arg)
|
|
|
NM_207122.2(EXT2):c.1740G>C (p.Trp580Cys)
|
rs1564986609
|
|
NM_207122.2(EXT2):c.1765G>A (p.Glu589Lys)
|
|
|
NM_207122.2(EXT2):c.1771T>C (p.Ser591Pro)
|
|
|
NM_207122.2(EXT2):c.1776G>A (p.Met592Ile)
|
|
|
NM_207122.2(EXT2):c.1777G>T (p.Val593Leu)
|
|
|
NM_207122.2(EXT2):c.1798T>C (p.Tyr600His)
|
|
|
NM_207122.2(EXT2):c.1799A>G (p.Tyr600Cys)
|
|
|
NM_207122.2(EXT2):c.1802A>C (p.His601Pro)
|
|
|
NM_207122.2(EXT2):c.1802A>G (p.His601Arg)
|
rs1590666587
|
|
NM_207122.2(EXT2):c.1802_1803delinsCT (p.His601Pro)
|
rs2135259942
|
|
NM_207122.2(EXT2):c.1806+3A>C
|
|
|
NM_207122.2(EXT2):c.1806+5G>C
|
|
|
NM_207122.2(EXT2):c.182G>T (p.Arg61Leu)
|
|
|
NM_207122.2(EXT2):c.1835T>C (p.Met612Thr)
|
|
|
NM_207122.2(EXT2):c.1854C>G (p.Asn618Lys)
|
|
|
NM_207122.2(EXT2):c.1855T>C (p.Trp619Arg)
|
|
|
NM_207122.2(EXT2):c.1876T>C (p.Cys626Arg)
|
rs2135263090
|
|
NM_207122.2(EXT2):c.1892T>C (p.Met631Thr)
|
|
|
NM_207122.2(EXT2):c.1894A>G (p.Asn632Asp)
|
rs1334534184
|
|
NM_207122.2(EXT2):c.1898_1899delinsCT (p.Phe633Ser)
|
|
|
NM_207122.2(EXT2):c.190C>T (p.Arg64Cys)
|
|
|
NM_207122.2(EXT2):c.1910A>G (p.Asn637Ser)
|
|
|
NM_207122.2(EXT2):c.1924G>A (p.Ala642Thr)
|
|
|
NM_207122.2(EXT2):c.1935+3A>C
|
|
|
NM_207122.2(EXT2):c.1958A>G (p.Lys653Arg)
|
|
|
NM_207122.2(EXT2):c.1977_1987del (p.Ile660fs)
|
|
|
NM_207122.2(EXT2):c.1985G>C (p.Gly662Ala)
|
|
|
NM_207122.2(EXT2):c.198G>C (p.Val66=)
|
rs775542605
|
|
NM_207122.2(EXT2):c.2000A>G (p.Gln667Arg)
|
|
|
NM_207122.2(EXT2):c.200C>T (p.Pro67Leu)
|
|
|
NM_207122.2(EXT2):c.2019-2A>G
|
|
|
NM_207122.2(EXT2):c.2019-2del
|
|
|
NM_207122.2(EXT2):c.2031CAA[1] (p.Asn678del)
|
rs753223281
|
|
NM_207122.2(EXT2):c.2050T>C (p.Phe684Leu)
|
rs1956070950
|
|
NM_207122.2(EXT2):c.2054G>C (p.Gly685Ala)
|
rs1389539812
|
|
NM_207122.2(EXT2):c.205G>A (p.Val69Ile)
|
rs200809171
|
|
NM_207122.2(EXT2):c.2063C>T (p.Pro688Leu)
|
|
|
NM_207122.2(EXT2):c.2083C>T (p.Arg695Ter)
|
|
|
NM_207122.2(EXT2):c.20A>G (p.Tyr7Cys)
|
|
|
NM_207122.2(EXT2):c.2120A>G (p.Glu707Gly)
|
rs769426160
|
|
NM_207122.2(EXT2):c.2126T>A (p.Leu709Gln)
|
|
|
NM_207122.2(EXT2):c.220G>A (p.Asp74Asn)
|
|
|
NM_207122.2(EXT2):c.226C>A (p.Pro76Thr)
|
rs999897934
|
|
NM_207122.2(EXT2):c.22A>G (p.Asn8Asp)
|
|
|
NM_207122.2(EXT2):c.236A>G (p.Glu79Gly)
|
|
|
NM_207122.2(EXT2):c.239G>A (p.Arg80Gln)
|
rs763536229
|
|
NM_207122.2(EXT2):c.245A>C (p.Asp82Ala)
|
rs534539796
|
|
NM_207122.2(EXT2):c.261G>A (p.Met87Ile)
|
rs758194845
|
|
NM_207122.2(EXT2):c.265A>G (p.Thr89Ala)
|
|
|
NM_207122.2(EXT2):c.278T>C (p.Val93Ala)
|
|
|
NM_207122.2(EXT2):c.281A>G (p.Tyr94Cys)
|
|
|
NM_207122.2(EXT2):c.28C>T (p.Arg10Trp)
|
|
|
NM_207122.2(EXT2):c.292T>C (p.Phe98Leu)
|
|
|
NM_207122.2(EXT2):c.307A>G (p.Lys103Glu)
|
rs907886635
|
|
NM_207122.2(EXT2):c.308A>C (p.Lys103Thr)
|
rs1321100355
|
|
NM_207122.2(EXT2):c.31G>A (p.Gly11Ser)
|
rs886048274
|
|
NM_207122.2(EXT2):c.320A>G (p.Tyr107Cys)
|
|
|
NM_207122.2(EXT2):c.374C>G (p.Thr125Ser)
|
|
|
NM_207122.2(EXT2):c.376A>G (p.Ile126Val)
|
|
|
NM_207122.2(EXT2):c.377T>G (p.Ile126Ser)
|
rs2134967559
|
|
NM_207122.2(EXT2):c.37G>A (p.Ala13Thr)
|
rs1389288265
|
|
NM_207122.2(EXT2):c.394G>C (p.Glu132Gln)
|
rs1954086080
|
|
NM_207122.2(EXT2):c.410T>C (p.Ile137Thr)
|
|
|
NM_207122.2(EXT2):c.417C>A (p.Asp139Glu)
|
|
|
NM_207122.2(EXT2):c.422A>T (p.Asp141Val)
|
|
|
NM_207122.2(EXT2):c.430A>G (p.Thr144Ala)
|
|
|
NM_207122.2(EXT2):c.443A>G (p.Asn148Ser)
|
|
|
NM_207122.2(EXT2):c.446G>A (p.Arg149Gln)
|
|
|
NM_207122.2(EXT2):c.469A>C (p.Ile157Leu)
|
|
|
NM_207122.2(EXT2):c.471C>A (p.Ile157=)
|
rs747429885
|
|
NM_207122.2(EXT2):c.472G>A (p.Asp158Asn)
|
|
|
NM_207122.2(EXT2):c.473A>G (p.Asp158Gly)
|
rs1954089321
|
|
NM_207122.2(EXT2):c.474T>A (p.Asp158Glu)
|
|
|
NM_207122.2(EXT2):c.487A>T (p.Asn163Tyr)
|
rs1954089713
|
|
NM_207122.2(EXT2):c.491C>T (p.Thr164Ile)
|
|
|
NM_207122.2(EXT2):c.496C>T (p.Arg166Cys)
|
|
|
NM_207122.2(EXT2):c.50G>A (p.Arg17Lys)
|
rs1240693088
|
|
NM_207122.2(EXT2):c.518C>T (p.Ala173Val)
|
|
|
NM_207122.2(EXT2):c.528_529delinsAA (p.Leu177Ile)
|
|
|
NM_207122.2(EXT2):c.537G>A (p.Arg179=)
|
|
|
NM_207122.2(EXT2):c.545G>A (p.Arg182Gln)
|
rs563383543
|
|
NM_207122.2(EXT2):c.553_558del (p.Asn185_His186del)
|
rs761364688
|
|
NM_207122.2(EXT2):c.561GTT[1] (p.Leu188del)
|
rs1954106603
|
|
NM_207122.2(EXT2):c.571A>G (p.Met191Val)
|
rs1324170921
|
|
NM_207122.2(EXT2):c.572T>C (p.Met191Thr)
|
|
|
NM_207122.2(EXT2):c.587C>T (p.Pro196Leu)
|
|
|
NM_207122.2(EXT2):c.593A>C (p.Asp198Ala)
|
|
|
NM_207122.2(EXT2):c.599A>G (p.Asn200Ser)
|
rs1954107822
|
|
NM_207122.2(EXT2):c.61A>G (p.Lys21Glu)
|
rs2134965342
|
|
NM_207122.2(EXT2):c.626+6A>T
|
|
|
NM_207122.2(EXT2):c.626+6_626+8del
|
|
|
NM_207122.2(EXT2):c.626G>A (p.Arg209Lys)
|
|
|
NM_207122.2(EXT2):c.640G>T (p.Gly214Cys)
|
|
|
NM_207122.2(EXT2):c.658T>C (p.Trp220Arg)
|
|
|
NM_207122.2(EXT2):c.65A>G (p.His22Arg)
|
rs1954077075
|
|
NM_207122.2(EXT2):c.668G>A (p.Arg223Gln)
|
|
|
NM_207122.2(EXT2):c.695T>G (p.Val232Gly)
|
|
|
NM_207122.2(EXT2):c.69A>T (p.Arg23=)
|
rs2134965405
|
|
NM_207122.2(EXT2):c.701G>T (p.Ser234Ile)
|
|
|
NM_207122.2(EXT2):c.720G>A (p.Val240=)
|
|
|
NM_207122.2(EXT2):c.724C>T (p.Leu242Phe)
|
|
|
NM_207122.2(EXT2):c.739C>G (p.Pro247Ala)
|
|
|
NM_207122.2(EXT2):c.740C>A (p.Pro247Gln)
|
rs372237191
|
|
NM_207122.2(EXT2):c.740C>G (p.Pro247Arg)
|
rs372237191
|
|
NM_207122.2(EXT2):c.744-16T>G
|
|
|
NM_207122.2(EXT2):c.755A>G (p.Tyr252Cys)
|
|
|
NM_207122.2(EXT2):c.758T>A (p.Phe253Tyr)
|
|
|
NM_207122.2(EXT2):c.760C>T (p.Leu254Phe)
|
|
|
NM_207122.2(EXT2):c.773A>G (p.Gln258Arg)
|
rs2135014787
|
|
NM_207122.2(EXT2):c.779G>T (p.Gly260Val)
|
rs201895861
|
|
NM_207122.2(EXT2):c.785A>G (p.His262Arg)
|
rs2135014871
|
|
NM_207122.2(EXT2):c.805C>T (p.Leu269=)
|
rs773486418
|
|
NM_207122.2(EXT2):c.814C>T (p.Leu272Phe)
|
|
|
NM_207122.2(EXT2):c.830G>C (p.Gly277Ala)
|
|
|
NM_207122.2(EXT2):c.839T>A (p.Val280Glu)
|
|
|
NM_207122.2(EXT2):c.844G>A (p.Val282Ile)
|
|
|
NM_207122.2(EXT2):c.850G>A (p.Asp284Asn)
|
|
|
NM_207122.2(EXT2):c.856T>C (p.Cys286Arg)
|
|
|
NM_207122.2(EXT2):c.857G>A (p.Cys286Tyr)
|
|
|
NM_207122.2(EXT2):c.886G>C (p.Val296Leu)
|
rs1954377301
|
|
NM_207122.2(EXT2):c.887T>A (p.Val296Asp)
|
|
|
NM_207122.2(EXT2):c.899_910dup (p.His303_Gln304insArgHisLysHis)
|
|
|
NM_207122.2(EXT2):c.913G>C (p.Val305Leu)
|
|
|
NM_207122.2(EXT2):c.919G>C (p.Asp307His)
|
|
|
NM_207122.2(EXT2):c.920A>G (p.Asp307Gly)
|
rs1260423517
|
|
NM_207122.2(EXT2):c.922T>C (p.Tyr308His)
|
rs2135015647
|
|
NM_207122.2(EXT2):c.929A>T (p.Gln310Leu)
|
|
|
NM_207122.2(EXT2):c.931G>A (p.Val311Met)
|
rs1449762239
|
|
NM_207122.2(EXT2):c.933G>A (p.Val311=)
|
|
|
NM_207122.2(EXT2):c.937C>G (p.Gln313Glu)
|
rs763718818
|
|
NM_207122.2(EXT2):c.953G>A (p.Cys318Tyr)
|
|
|
NM_207122.2(EXT2):c.955G>A (p.Val319Met)
|
|
|
NM_207122.2(EXT2):c.956T>C (p.Val319Ala)
|
|
|
NM_207122.2(EXT2):c.964C>T (p.Arg322Cys)
|
|
|
NM_207122.2(EXT2):c.988G>A (p.Val330Ile)
|
|
|
NM_207122.2(EXT2):c.999_1000inv (p.Val334Met)
|
|
|
NM_212482.4(FN1):c.1436G>T (p.Arg479Leu)
|
rs761729774
|
|
NM_212482.4(FN1):c.1481T>C (p.Met494Thr)
|
rs2064511350
|
|
NM_212482.4(FN1):c.1888T>G (p.Trp630Gly)
|
rs2106350896
|
|
NM_212482.4(FN1):c.2150C>G (p.Pro717Arg)
|
rs770505069
|
|
NM_212482.4(FN1):c.2299+3A>T
|
rs2062278053
|
|
NM_212482.4(FN1):c.2422ACA[1] (p.Thr809del)
|
rs1553636502
|
|
NM_212482.4(FN1):c.2605G>A (p.Asp869Asn)
|
|
|
NM_212482.4(FN1):c.3009_3010del (p.Gln1004fs)
|
|
|
NM_212482.4(FN1):c.3149A>C (p.Lys1050Thr)
|
rs144581583
|
|
NM_212482.4(FN1):c.4217C>T (p.Ser1406Leu)
|
rs1334066739
|
|
NM_212482.4(FN1):c.4649C>A (p.Ala1550Glu)
|
rs202245868
|
|
NM_212482.4(FN1):c.5164+3A>G
|
rs2105944563
|
|
NM_212482.4(FN1):c.5369_5370del (p.Thr1790fs)
|
rs771111687
|
|
NM_212482.4(FN1):c.7069C>T (p.Arg2357Cys)
|
rs759085028
|
|
NM_212482.4(FN1):c.7160ATG[2] (p.Asp2389del)
|
rs1278884339
|
|
NR_023317.1(RNU7-1):n.23T>G
|
|
|
NR_149149.2(NPM1):n.858_859del
|
rs2113301411
|
|