NM_000243.3(MEFV):c.*267G>A
|
rs2741918
|
0.58813
|
NM_000243.3(MEFV):c.*836_*837insACT
|
rs34895148
|
0.58327
|
NM_000243.3(MEFV):c.*245G>A
|
rs2741919
|
0.58215
|
NM_002661.5(PLCG2):c.2236-14C>G
|
rs12446127
|
0.48966
|
NM_001715.3(BLK):c.*176C>T
|
rs1042689
|
0.42891
|
NM_001171.6(ABCC6):c.1233T>C (p.Asn411=)
|
rs9930886
|
0.31672
|
NM_001367624.2(ZNF469):c.*845T>C
|
rs7187709
|
0.13371
|
NM_000431.4(MVK):c.155G>A (p.Ser52Asn)
|
rs7957619
|
0.11415
|
NM_001370466.1(NOD2):c.2717+158C>T
|
rs5743289
|
0.10180
|
NM_001367624.2(ZNF469):c.1489G>A (p.Gly497Arg)
|
rs28723506
|
0.09509
|
NM_001367624.2(ZNF469):c.6470G>A (p.Arg2157Lys)
|
rs13334190
|
0.09442
|
NM_004273.5(CHST3):c.*1899G>A
|
rs17297481
|
0.08826
|
NM_001367624.2(ZNF469):c.*46C>A
|
rs78600508
|
0.08121
|
NM_001171.6(ABCC6):c.793A>G (p.Arg265Gly)
|
rs72657698
|
0.06836
|
NM_001367624.2(ZNF469):c.7508C>A (p.Ala2503Glu)
|
rs141218390
|
0.06780
|
NM_001367624.2(ZNF469):c.*907G>A
|
rs1048192
|
0.06751
|
NM_001367624.2(ZNF469):c.*921_*922insG
|
rs11382974
|
0.06632
|
NM_001370466.1(NOD2):c.2782G>A (p.Val928Ile)
|
rs5743291
|
0.06122
|
NM_001367624.2(ZNF469):c.8330A>T (p.Asp2777Val)
|
rs3812954
|
0.06060
|
NM_001367624.2(ZNF469):c.3516T>C (p.Arg1172=)
|
rs111557381
|
0.06017
|
NM_001375808.2(LPIN2):c.*501T>C
|
rs35176958
|
0.05856
|
NM_004273.5(CHST3):c.*3555G>A
|
rs4148951
|
0.04774
|
NM_004273.5(CHST3):c.*3039C>T
|
rs74145519
|
0.04770
|
NM_001367624.2(ZNF469):c.1285G>A (p.Ala429Thr)
|
rs113937803
|
0.04541
|
NM_004273.5(CHST3):c.*4770G>A
|
rs4148953
|
0.04304
|
NM_052845.4(MMAB):c.288T>C (p.Ile96=)
|
rs62000414
|
0.04206
|
NM_001367624.2(ZNF469):c.1143C>A (p.Pro381=)
|
rs74032864
|
0.04134
|
NM_001110556.2(FLNA):c.3035C>T (p.Ser1012Leu)
|
rs17091204
|
0.04081
|
NM_001852.4(COL9A2):c.976C>T (p.Gln326Ter)
|
rs12077871
|
0.04036
|
NM_004273.5(CHST3):c.*1370G>A
|
rs60924680
|
0.03944
|
NM_004273.5(CHST3):c.*2026A>G
|
rs115545740
|
0.03755
|
NM_018699.4(PRDM5):c.849G>A (p.Gln283=)
|
rs17051264
|
0.03566
|
NM_005902.4(SMAD3):c.508A>G (p.Ile170Val)
|
rs35874463
|
0.03414
|
NM_001171.6(ABCC6):c.346-6G>A
|
rs55778939
|
0.03265
|
NM_003238.6(TGFB2):c.*1502T>C
|
rs17500758
|
0.03234
|
NM_000302.4(PLOD1):c.*440G>C
|
rs11553681
|
0.03198
|
NM_002904.6(NELFE):c.-9+69G>A
|
rs17201466
|
0.03192
|
NM_000093.5(COL5A1):c.1588G>A (p.Gly530Ser)
|
rs61735045
|
0.03116
|
NM_004273.5(CHST3):c.*1006T>C
|
rs116018996
|
0.02989
|
NM_001370466.1(NOD2):c.2023C>T (p.Arg675Trp)
|
rs2066844
|
0.02936
|
NM_001367624.2(ZNF469):c.8212G>A (p.Ala2738Thr)
|
rs3812955
|
0.02902
|
NM_000138.5(FBN1):c.6855T>C (p.Asp2285=)
|
rs363836
|
0.02755
|
NM_001367624.2(ZNF469):c.4434C>T (p.Ser1478=)
|
rs74032865
|
0.02534
|
NM_003242.6(TGFBR2):c.*1833A>C
|
rs1803446
|
0.02445
|
NM_018699.4(PRDM5):c.660G>A (p.Gln220=)
|
rs74320998
|
0.02419
|
NM_000138.5(FBN1):c.6888G>A (p.Gln2296=)
|
rs363830
|
0.02418
|
NM_148919.4(PSMB8):c.22G>A (p.Gly8Arg)
|
rs114772012
|
0.02384
|
NM_001367624.2(ZNF469):c.11409G>C (p.Gly3803=)
|
rs150233193
|
0.02319
|
NM_022124.6(CDH23):c.429+18T>C
|
rs141451003
|
0.02288
|
NM_001367624.2(ZNF469):c.10975G>A (p.Gly3659Arg)
|
rs3812951
|
0.02265
|
NM_003238.6(TGFB2):c.*2188T>C
|
rs17047869
|
0.02183
|
NM_001367624.2(ZNF469):c.4406A>G (p.Tyr1469Cys)
|
rs116072997
|
0.02164
|
NM_001367624.2(ZNF469):c.2913C>A (p.Gly971=)
|
rs60462217
|
0.02154
|
NM_001367624.2(ZNF469):c.3650C>T (p.Pro1217Leu)
|
rs115183769
|
0.02140
|
NM_000243.3(MEFV):c.442G>C (p.Glu148Gln)
|
rs3743930
|
0.02112
|
NM_004612.4(TGFBR1):c.*4300C>T
|
rs41283642
|
0.02037
|
NM_001367624.2(ZNF469):c.6777G>A (p.Glu2259=)
|
rs76442115
|
0.02017
|
NM_001367624.2(ZNF469):c.6779A>G (p.Lys2260Arg)
|
rs75136873
|
0.02017
|
NM_004273.5(CHST3):c.-274G>T
|
rs146305825
|
0.02017
|
NM_004612.4(TGFBR1):c.*4499G>A
|
rs79641064
|
0.01970
|
NM_018699.4(PRDM5):c.1066T>A (p.Ser356Thr)
|
rs140634372
|
0.01952
|
NM_212482.4(FN1):c.1101T>C (p.Asn367=)
|
rs114523318
|
0.01928
|
NM_000302.4(PLOD1):c.540G>A (p.Gln180=)
|
rs35958757
|
0.01887
|
NM_004273.5(CHST3):c.*1425C>T
|
rs80269486
|
0.01869
|
NM_001851.6(COL9A1):c.2470C>A (p.Pro824Thr)
|
rs34119578
|
0.01848
|
NM_012275.3(IL36RN):c.*1902T>C
|
rs28939968
|
0.01844
|
NM_001171.6(ABCC6):c.662+12C>T
|
rs1555520951
|
0.01842
|
NM_004273.5(CHST3):c.*1101T>G
|
rs116999241
|
0.01828
|
NM_001367624.2(ZNF469):c.6944C>G (p.Pro2315Arg)
|
rs77490207
|
0.01795
|
NM_001367624.2(ZNF469):c.5697C>T (p.Ser1899=)
|
rs111986360
|
0.01774
|
NM_024529.5(CDC73):c.*1267A>G
|
rs78218016
|
0.01764
|
NM_001171.6(ABCC6):c.2836C>A (p.Leu946Ile)
|
rs61340537
|
0.01730
|
NM_004273.5(CHST3):c.*1426T>C
|
rs76062174
|
0.01720
|
NM_001171.6(ABCC6):c.3190C>T (p.Arg1064Trp)
|
rs41278174
|
0.01708
|
NM_002520.7(NPM1):c.847-5T>C
|
rs191111314
|
0.01680
|
NM_173842.3(IL1RN):c.*310T>C
|
rs4252027
|
0.01657
|
NM_173842.3(IL1RN):c.459C>T (p.Asp153=)
|
rs4252023
|
0.01650
|
NM_001367624.2(ZNF469):c.3894G>C (p.Val1298=)
|
rs115790991
|
0.01614
|
NM_000243.3(MEFV):c.*133G>A
|
rs2075849
|
0.01591
|
NM_000243.3(MEFV):c.1105C>T (p.Pro369Ser)
|
rs11466023
|
0.01590
|
NM_005902.4(SMAD3):c.*843G>A
|
rs55970514
|
0.01590
|
NM_004273.5(CHST3):c.*255C>T
|
rs114569872
|
0.01583
|
NM_001171.6(ABCC6):c.3507-3C>T
|
rs41278172
|
0.01517
|
NM_207122.2(EXT2):c.124A>G (p.Met42Val)
|
rs4755779
|
0.01478
|
NM_005529.7(HSPG2):c.7509C>T (p.Cys2503=)
|
rs62642515
|
0.01467
|
NM_002661.5(PLCG2):c.1558-18C>T
|
rs113312523
|
0.01465
|
NM_005902.4(SMAD3):c.870C>T (p.Ile290=)
|
rs117185005
|
0.01464
|
NM_005529.7(HSPG2):c.7035C>T (p.Ile2345=)
|
rs2229484
|
0.01460
|
NM_000243.3(MEFV):c.1223G>A (p.Arg408Gln)
|
rs11466024
|
0.01456
|
NM_005529.7(HSPG2):c.7532C>T (p.Thr2511Ile)
|
rs62642518
|
0.01448
|
NM_000138.5(FBN1):c.3082+6A>G
|
rs79321504
|
0.01406
|
NM_001375808.2(LPIN2):c.*99C>T
|
rs143728428
|
0.01403
|
NM_001367624.2(ZNF469):c.10708G>A (p.Ala3570Thr)
|
rs57052487
|
0.01385
|
NM_000047.3(ARSL):c.548G>A (p.Arg183His)
|
rs34412194
|
0.01378
|
NM_001558.4(IL10RA):c.181C>G (p.Leu61Val)
|
rs4252250
|
0.01376
|
NM_001844.5(COL2A1):c.1266+7G>A
|
rs41317915
|
0.01359
|
NM_001367624.2(ZNF469):c.3125G>A (p.Arg1042Gln)
|
rs181077813
|
0.01341
|
NM_001171.6(ABCC6):c.474+13G>A
|
rs111339199
|
0.01326
|
NM_001370466.1(NOD2):c.2093C>G (p.Ala698Gly)
|
rs5743278
|
0.01319
|
NM_199242.3(UNC13D):c.3252T>C (p.His1084=)
|
rs61753922
|
0.01313
|
NM_001367624.2(ZNF469):c.2034C>T (p.Ala678=)
|
rs58401704
|
0.01305
|
NM_207122.2(EXT2):c.1761G>A (p.Thr587=)
|
rs16937864
|
0.01303
|
NM_024753.5(TTC21B):c.665A>T (p.Gln222Leu)
|
rs80026831
|
0.01296
|
NM_024753.5(TTC21B):c.838A>G (p.Met280Val)
|
rs112868646
|
0.01295
|
NM_004752.4(GCM2):c.1060A>G (p.Met354Val)
|
rs61734278
|
0.01292
|
NM_004612.4(TGFBR1):c.*2703G>A
|
rs76392135
|
0.01278
|
NM_000435.3(NOTCH3):c.1487C>T (p.Pro496Leu)
|
rs11670799
|
0.01273
|
NM_004273.5(CHST3):c.*483G>A
|
rs113283291
|
0.01271
|
NM_207122.2(EXT2):c.999T>C (p.Asp333=)
|
rs61733300
|
0.01271
|
NM_001287.6(CLCN7):c.1671C>T (p.Gly557=)
|
rs115310976
|
0.01268
|
NM_024529.5(CDC73):c.*580A>T
|
rs191600804
|
0.01264
|
NM_012275.3(IL36RN):c.*308T>G
|
rs114200724
|
0.01255
|
NM_012275.3(IL36RN):c.*1660G>A
|
rs74502334
|
0.01253
|
NM_000435.3(NOTCH3):c.1782C>T (p.Gly594=)
|
rs35793356
|
0.01231
|
NM_003242.6(TGFBR2):c.*330C>A
|
rs304840
|
0.01221
|
NM_001367624.2(ZNF469):c.8121G>A (p.Ala2707=)
|
rs116696830
|
0.01217
|
NM_004273.5(CHST3):c.*3666G>A
|
rs113342172
|
0.01185
|
NM_003242.6(TGFBR2):c.*1880G>A
|
rs11466534
|
0.01174
|
NM_003238.6(TGFB2):c.*1128G>A
|
rs56271792
|
0.01172
|
NM_058172.6(ANTXR2):c.331C>T (p.Arg111Cys)
|
rs61741646
|
0.01167
|
NM_001367624.2(ZNF469):c.2574G>C (p.Pro858=)
|
rs74384633
|
0.01153
|
NM_030777.4(SLC2A10):c.*1340G>A
|
rs78189695
|
0.01153
|
NM_001367624.2(ZNF469):c.6032G>A (p.Gly2011Asp)
|
rs79155191
|
0.01148
|
NM_001854.4(COL11A1):c.904A>G (p.Ile302Val)
|
rs75824519
|
0.01140
|
NM_000071.3(CBS):c.304A>C (p.Lys102Gln)
|
rs34040148
|
0.01138
|
NM_002474.3(MYH11):c.2412-9C>A
|
rs148682361
|
0.01132
|
NM_000090.4(COL3A1):c.3525+19del
|
rs138061246
|
0.01120
|
NM_005902.4(SMAD3):c.*419G>T
|
rs78329172
|
0.01117
|
NM_080425.4(GNAS):c.1376C>G (p.Pro459Arg)
|
rs148033592
|
0.01117
|
NM_003183.6(ADAM17):c.2240C>T (p.Ser747Leu)
|
rs55796712
|
0.01113
|
NM_001367624.2(ZNF469):c.2407G>T (p.Ala803Ser)
|
rs113484918
|
0.01110
|
NM_005902.4(SMAD3):c.*2229A>G
|
rs188412401
|
0.01091
|
NM_006182.4(DDR2):c.83-4C>T
|
rs76156815
|
0.01091
|
NM_001122681.2(SH3BP2):c.801C>T (p.Cys267=)
|
rs114926004
|
0.01089
|
NM_003238.6(TGFB2):c.-1016C>T
|
rs11466365
|
0.01071
|
NM_199242.3(UNC13D):c.904C>T (p.Leu302Phe)
|
rs55661958
|
0.01066
|
NM_003238.6(TGFB2):c.*2564A>G
|
rs77808075
|
0.01063
|
NM_001111.5(ADAR):c.1760A>G (p.Tyr587Cys)
|
rs17843865
|
0.01046
|
NM_003978.5(PSTPIP1):c.642+16G>A
|
rs78282498
|
0.01035
|
NM_001844.5(COL2A1):c.1545C>A (p.Arg515=)
|
rs41317925
|
0.01027
|
NM_000243.3(MEFV):c.1772T>C (p.Ile591Thr)
|
rs11466045
|
0.01021
|
NM_000388.4(CASR):c.2610G>A (p.Glu870=)
|
rs143738711
|
0.01002
|
NM_005529.7(HSPG2):c.5742C>T (p.His1914=)
|
rs62642522
|
0.00995
|
NM_003242.6(TGFBR2):c.*835C>A
|
rs17026332
|
0.00994
|
NM_001367624.2(ZNF469):c.4926G>A (p.Ser1642=)
|
rs117310292
|
0.00992
|
NM_002520.7(NPM1):c.543T>C (p.Phe181=)
|
rs61755048
|
0.00991
|
NM_024570.4(RNASEH2B):c.156G>A (p.Leu52=)
|
rs35416748
|
0.00984
|
NM_003036.4(SKI):c.456C>T (p.Arg152=)
|
rs149898447
|
0.00976
|
NM_001330360.2(POLA1):c.4356C>T (p.Tyr1452=)
|
rs11573531
|
0.00965
|
NM_001854.4(COL11A1):c.4965T>G (p.Ser1655=)
|
rs74778421
|
0.00956
|
NM_005529.7(HSPG2):c.9540G>A (p.Ala3180=)
|
rs62642506
|
0.00953
|
NM_001367624.2(ZNF469):c.9004A>C (p.Met3002Leu)
|
rs141776185
|
0.00951
|
NM_001972.4(ELANE):c.655G>A (p.Val219Ile)
|
rs17216656
|
0.00945
|
NM_001457.4(FLNB):c.1919C>T (p.Thr640Met)
|
rs62621999
|
0.00943
|
NM_003242.6(TGFBR2):c.*1354C>T
|
rs11466532
|
0.00943
|
NM_001367624.2(ZNF469):c.1697C>T (p.Ala566Val)
|
rs181785233
|
0.00939
|
NM_001242.5(CD27):c.30C>T (p.Cys10=)
|
rs34540052
|
0.00937
|
NM_001367624.2(ZNF469):c.2814G>A (p.Ala938=)
|
rs140480823
|
0.00931
|
NM_207122.2(EXT2):c.1017T>C (p.Cys339=)
|
rs11828047
|
0.00930
|
NM_002661.5(PLCG2):c.3726C>A (p.Leu1242=)
|
rs76506409
|
0.00926
|
NM_001199138.2(NLRC4):c.-48A>G
|
rs115661114
|
0.00915
|
NM_001042492.3(NF1):c.2022C>T (p.Ser674=)
|
rs2230851
|
0.00908
|
NM_001854.4(COL11A1):c.4140+10A>T
|
rs187171126
|
0.00906
|
NM_006949.4(STXBP2):c.1590G>A (p.Ala530=)
|
rs61736589
|
0.00904
|
NM_005529.7(HSPG2):c.10702G>A (p.Val3568Ile)
|
rs115616224
|
0.00899
|
NM_024408.4(NOTCH2):c.272G>T (p.Arg91Leu)
|
rs143195893
|
0.00899
|
NM_005529.7(HSPG2):c.13119C>T (p.Pro4373=)
|
rs2229477
|
0.00898
|
NM_004239.4(TRIP11):c.5651A>G (p.His1884Arg)
|
rs74071672
|
0.00895
|
NM_001367624.2(ZNF469):c.4884G>A (p.Thr1628=)
|
rs141666432
|
0.00893
|
NM_003978.5(PSTPIP1):c.204G>A (p.Thr68=)
|
rs113386299
|
0.00891
|
NM_002661.5(PLCG2):c.2262C>T (p.Asp754=)
|
rs74032923
|
0.00884
|
NM_001367624.2(ZNF469):c.2370G>A (p.Leu790=)
|
rs147859144
|
0.00882
|
NM_005529.7(HSPG2):c.5442G>A (p.Leu1814=)
|
rs115087461
|
0.00870
|
NM_006949.4(STXBP2):c.1298C>T (p.Ala433Val)
|
rs141309384
|
0.00866
|
NM_000243.3(MEFV):c.2118G>A (p.Pro706=)
|
rs2234939
|
0.00864
|
NM_000138.5(FBN1):c.3965-8T>C
|
rs140637
|
0.00859
|
NM_001171.6(ABCC6):c.3289C>A (p.Leu1097Ile)
|
rs60707953
|
0.00849
|
NM_000546.6(TP53):c.97-6C>T
|
rs35117667
|
0.00847
|
NM_004612.4(TGFBR1):c.*1428G>C
|
rs11568811
|
0.00845
|
NM_001853.4(COL9A3):c.520-6C>T
|
rs45476191
|
0.00844
|
NM_001083116.3(PRF1):c.702G>A (p.Ser234=)
|
rs138508223
|
0.00843
|
NM_000435.3(NOTCH3):c.5854G>A (p.Val1952Met)
|
rs115582213
|
0.00841
|
NM_001370466.1(NOD2):c.460-3T>C
|
rs141833420
|
0.00836
|
NM_001243133.2(NLRP3):c.592G>A (p.Val198Met)
|
rs121908147
|
0.00835
|
NM_022124.6(CDH23):c.4846-19G>C
|
rs80261750
|
0.00835
|
NM_000095.3(COMP):c.1956C>T (p.Asn652=)
|
rs10421797
|
0.00834
|
NM_001999.4(FBN2):c.4312G>A (p.Glu1438Lys)
|
rs56168072
|
0.00832
|
NM_003242.5(TGFBR2):c.-302A>G
|
rs138010137
|
0.00832
|
NM_005529.7(HSPG2):c.12801G>T (p.Gly4267=)
|
rs79386413
|
0.00828
|
NM_022168.4(IFIH1):c.177T>C (p.Val59=)
|
rs115500208
|
0.00826
|
NM_001375808.2(LPIN2):c.1801G>A (p.Glu601Lys)
|
rs61735393
|
0.00824
|
NM_001366385.1(CARD14):c.*46T>C
|
rs75486216
|
0.00820
|
NM_004273.5(CHST3):c.*2391C>T
|
rs116391584
|
0.00817
|
NM_004273.5(CHST3):c.*1823G>C
|
rs116289781
|
0.00816
|
NM_004273.5(CHST3):c.*2163A>G
|
rs114563668
|
0.00816
|
NM_004273.5(CHST3):c.*2826G>A
|
rs114457501
|
0.00816
|
NM_004273.5(CHST3):c.*3890C>T
|
rs79559408
|
0.00815
|
NM_004273.5(CHST3):c.*4095A>G
|
rs114800040
|
0.00815
|
NM_004273.5(CHST3):c.*203A>G
|
rs77359818
|
0.00814
|
NM_144687.4(NLRP12):c.969T>G (p.Leu323=)
|
rs142063194
|
0.00814
|
NM_001065.4(TNFRSF1A):c.*387A>G
|
rs115682467
|
0.00805
|
NM_144687.4(NLRP12):c.956C>G (p.Pro319Arg)
|
rs35401786
|
0.00803
|
NM_002661.5(PLCG2):c.1712A>G (p.Asn571Ser)
|
rs75472618
|
0.00802
|
NM_144687.4(NLRP12):c.424G>A (p.Asp142Asn)
|
rs34330210
|
0.00799
|
NM_024753.5(TTC21B):c.1965G>A (p.Arg655=)
|
rs16822802
|
0.00798
|
NM_001457.4(FLNB):c.3771G>A (p.Pro1257=)
|
rs146851485
|
0.00794
|
NM_001375808.2(LPIN2):c.-10+1313C>T
|
rs116643915
|
0.00793
|
NM_001171.6(ABCC6):c.2067C>T (p.Ile689=)
|
rs61266641
|
0.00789
|
NM_058172.6(ANTXR2):c.*947T>C
|
rs114449405
|
0.00787
|
NM_001171.6(ABCC6):c.4254G>A (p.Arg1418=)
|
rs58668703
|
0.00784
|
NM_001370466.1(NOD2):c.-8-2340del
|
rs5743265
|
0.00779
|
NM_001171.6(ABCC6):c.2707G>C (p.Glu903Gln)
|
rs60712230
|
0.00774
|
NM_001367624.2(ZNF469):c.4363C>G (p.Leu1455Val)
|
rs116532825
|
0.00765
|
NM_021625.5(TRPV4):c.1684G>A (p.Val562Ile)
|
rs56177950
|
0.00760
|
NM_000435.3(NOTCH3):c.1490C>T (p.Ser497Leu)
|
rs114207045
|
0.00755
|
NM_001367624.2(ZNF469):c.5087C>T (p.Pro1696Leu)
|
rs115487796
|
0.00752
|
NM_003664.5(AP3B1):c.2324T>A (p.Ile775Lys)
|
rs62001050
|
0.00745
|
NM_001042492.3(NF1):c.7322-17C>T
|
rs17884859
|
0.00744
|
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_024408.4(NOTCH2):c.4311C>T (p.Gly1437=)
|
rs34561092
|
0.00733
|
NM_005157.6(ABL1):c.1899C>T (p.Ala633=)
|
rs2229068
|
0.00732
|
NM_001844.5(COL2A1):c.213C>T (p.Asp71=)
|
rs112469769
|
0.00730
|
NM_004239.4(TRIP11):c.3147G>A (p.Leu1049=)
|
rs17127842
|
0.00729
|
NM_001370466.1(NOD2):c.337G>A (p.Ala113Thr)
|
rs34684955
|
0.00726
|
NM_001039569.2(AP1S3):c.97C>T (p.Arg33Trp)
|
rs138292988
|
0.00725
|
NM_012275.3(IL36RN):c.*1763G>A
|
rs72946729
|
0.00725
|
NM_001457.4(FLNB):c.2907G>A (p.Arg969=)
|
rs138449267
|
0.00724
|
NM_001375808.2(LPIN2):c.147C>T (p.His49=)
|
rs17886056
|
0.00707
|
NM_001367624.2(ZNF469):c.7805T>C (p.Leu2602Pro)
|
rs150488251
|
0.00706
|
NM_006949.4(STXBP2):c.1191G>A (p.Ala397=)
|
rs76836497
|
0.00700
|
NM_014314.4(RIGI):c.734A>G (p.Asn245Ser)
|
rs141808660
|
0.00693
|
NM_212482.4(FN1):c.3189C>T (p.Thr1063=)
|
rs78262627
|
0.00693
|
NM_144687.4(NLRP12):c.2754G>C (p.Leu918=)
|
rs61741347
|
0.00692
|
NM_001366385.1(CARD14):c.2409G>A (p.Thr803=)
|
rs115102551
|
0.00689
|
NM_004239.4(TRIP11):c.4164C>T (p.His1388=)
|
rs140130380
|
0.00687
|
NM_004239.4(TRIP11):c.4507A>G (p.Met1503Val)
|
rs34839498
|
0.00686
|
NM_058172.6(ANTXR2):c.*2303A>C
|
rs115504770
|
0.00686
|
NM_004239.4(TRIP11):c.2217T>C (p.Tyr739=)
|
rs35009380
|
0.00682
|
NM_012275.3(IL36RN):c.369G>C (p.Thr123=)
|
rs28938778
|
0.00682
|
NM_000088.4(COL1A1):c.904-9G>T
|
rs141726413
|
0.00680
|
NM_000516.7(GNAS):c.951C>T (p.Arg317=)
|
rs75561530
|
0.00680
|
NM_024570.4(RNASEH2B):c.-112C>T
|
rs184573722
|
0.00678
|
NM_001999.4(FBN2):c.728T>C (p.Ile243Thr)
|
rs117524265
|
0.00674
|
NM_003183.6(ADAM17):c.2017G>A (p.Val673Ile)
|
rs61754177
|
0.00673
|
NM_130384.3(ATRIP):c.*722C>T
|
rs2279076
|
0.00673
|
NM_000081.4(LYST):c.5945C>T (p.Thr1982Ile)
|
rs146591126
|
0.00669
|
NM_000302.4(PLOD1):c.1141G>A (p.Val381Met)
|
rs2230896
|
0.00668
|
NM_017668.3(NDE1):c.948-3356G>A
|
rs142108062
|
0.00664
|
NM_004612.4(TGFBR1):c.*2645A>C
|
rs17724567
|
0.00660
|
NM_001558.4(IL10RA):c.337G>A (p.Val113Ile)
|
rs4252303
|
0.00655
|
NM_004327.4(BCR):c.606C>T (p.Ser202=)
|
rs147507158
|
0.00655
|
NM_005902.4(SMAD3):c.*3037C>G
|
rs145645018
|
0.00655
|
NM_001844.5(COL2A1):c.2160C>A (p.Gly720=)
|
rs145704340
|
0.00654
|
NM_001999.4(FBN2):c.976C>T (p.Pro326Ser)
|
rs28763954
|
0.00654
|
NM_138348.6(OTULIN):c.230-15T>A
|
rs201861710
|
0.00653
|
NM_001127671.2(LIFR):c.1991C>T (p.Ser664Leu)
|
rs3729744
|
0.00642
|
NM_001853.4(COL9A3):c.1476C>T (p.Pro492=)
|
rs76559905
|
0.00634
|
NM_001367624.2(ZNF469):c.1471G>A (p.Ala491Thr)
|
rs117555121
|
0.00632
|
NM_001852.4(COL9A2):c.1150A>C (p.Met384Leu)
|
rs145327896
|
0.00631
|
NM_199242.3(UNC13D):c.753+3G>A
|
rs116229331
|
0.00627
|
NM_005529.7(HSPG2):c.3056C>T (p.Pro1019Leu)
|
rs62642528
|
0.00626
|
NM_000243.3(MEFV):c.*9C>T
|
rs11466048
|
0.00618
|
NM_004371.4(COPA):c.1076+13T>A
|
rs149521115
|
0.00611
|
NM_000516.7(GNAS):c.384G>A (p.Val128=)
|
rs3730166
|
0.00609
|
NM_001375808.2(LPIN2):c.*358G>A
|
rs184193388
|
0.00608
|
NM_001367624.2(ZNF469):c.4421C>T (p.Ala1474Val)
|
rs199897247
|
0.00605
|
NM_001999.4(FBN2):c.8347G>C (p.Glu2783Gln)
|
rs76756898
|
0.00599
|
NM_000243.3(MEFV):c.1760-97G>A
|
rs11466044
|
0.00589
|
NM_001367624.2(ZNF469):c.1994C>T (p.Pro665Leu)
|
rs184583062
|
0.00587
|
NM_003238.6(TGFB2):c.*1273T>C
|
rs143593418
|
0.00586
|
NM_000516.7(GNAS):c.366C>T (p.Pro122=)
|
rs35287986
|
0.00583
|
NM_001084.5(PLOD3):c.1144G>C (p.Asp382His)
|
rs41281013
|
0.00583
|
NM_000081.4(LYST):c.7059+7G>A
|
rs111764031
|
0.00582
|
NM_000081.4(LYST):c.6812A>G (p.Asp2271Gly)
|
rs112601869
|
0.00580
|
NM_173841.2(IL1RN):c.-83G>A
|
rs45526933
|
0.00580
|
NM_001065.4(TNFRSF1A):c.224C>T (p.Pro75Leu)
|
rs4149637
|
0.00574
|
NM_003238.6(TGFB2):c.-288A>T
|
rs116531760
|
0.00572
|
NM_001999.4(FBN2):c.3762C>T (p.Asp1254=)
|
rs2279582
|
0.00570
|
NM_003036.4(SKI):c.1446G>A (p.Ala482=)
|
rs114345135
|
0.00570
|
NM_000138.5(FBN1):c.5343G>A (p.Val1781=)
|
rs140649
|
0.00561
|
NM_017617.5(NOTCH1):c.5124G>T (p.Ser1708=)
|
rs35980907
|
0.00561
|
NM_000081.4(LYST):c.8898T>C (p.Tyr2966=)
|
rs144475533
|
0.00560
|
NM_053025.4(MYLK):c.5368+13_5368+21del
|
rs146990616
|
0.00551
|
NM_003764.4(STX11):c.799G>A (p.Val267Met)
|
rs45574234
|
0.00545
|
NM_004836.7(EIF2AK3):c.3291A>G (p.Ser1097=)
|
rs10208681
|
0.00543
|
NM_001853.4(COL9A3):c.309+11G>A
|
rs146033082
|
0.00541
|
NM_080425.4(GNAS):c.1798C>G (p.Arg600Gly)
|
rs74897360
|
0.00538
|
NM_024753.5(TTC21B):c.3004C>G (p.Leu1002Val)
|
rs146496725
|
0.00537
|
NM_001199397.3(NEK1):c.2731C>G (p.Gln911Glu)
|
rs6828134
|
0.00535
|
NM_003664.5(AP3B1):c.1317T>G (p.Thr439=)
|
rs75248449
|
0.00528
|
NM_022124.6(CDH23):c.1449+76C>A
|
rs41281304
|
0.00518
|
NM_003664.5(AP3B1):c.2995G>A (p.Val999Met)
|
rs146503597
|
0.00517
|
NM_138348.6(OTULIN):c.996C>G (p.Leu332=)
|
rs36111454
|
0.00517
|
NM_080680.3(COL11A2):c.3860A>G (p.Asp1287Gly)
|
rs142962835
|
0.00515
|
NM_002661.5(PLCG2):c.2094C>T (p.Asp698=)
|
rs143195637
|
0.00513
|
NM_002451.4(MTAP):c.768T>G (p.Pro256=)
|
rs62556500
|
0.00511
|
NM_024529.5(CDC73):c.1185A>G (p.Gln395=)
|
rs116358657
|
0.00511
|
NM_014639.4(SKIC3):c.585G>A (p.Lys195=)
|
rs73147944
|
0.00510
|
NM_001282225.2(ADA2):c.511C>T (p.Arg171Trp)
|
rs115986203
|
0.00508
|
NM_003664.5(AP3B1):c.2585C>T (p.Thr862Ile)
|
rs146624866
|
0.00508
|
NM_000243.3(MEFV):c.2084A>G (p.Lys695Arg)
|
rs104895094
|
0.00506
|
NM_000138.5(FBN1):c.*1580G>A
|
rs17352989
|
0.00504
|
NM_022168.4(IFIH1):c.2807+1G>A
|
rs35732034
|
0.00502
|
NM_001282225.2(ADA2):c.660C>T (p.Tyr220=)
|
rs2231487
|
0.00500
|
NM_003978.5(PSTPIP1):c.940C>T (p.Leu314=)
|
rs201582038
|
0.00495
|
NM_004612.4(TGFBR1):c.*360A>G
|
rs145692006
|
0.00493
|
NM_000093.5(COL5A1):c.5137-12C>T
|
rs191758714
|
0.00488
|
NM_000081.4(LYST):c.5518T>G (p.Ser1840Ala)
|
rs115330112
|
0.00485
|
NM_000243.3(MEFV):c.2163C>T (p.Phe721=)
|
rs11466047
|
0.00484
|
NM_001844.5(COL2A1):c.4104C>T (p.Pro1368=)
|
rs12721379
|
0.00478
|
NM_000081.4(LYST):c.-5C>T
|
rs141317482
|
0.00475
|
NM_001171.6(ABCC6):c.3883-24G>A
|
rs59513011
|
0.00475
|
NM_001367624.2(ZNF469):c.62G>A (p.Arg21His)
|
rs145178398
|
0.00473
|
NM_001844.5(COL2A1):c.3102T>C (p.Pro1034=)
|
rs1793948
|
0.00473
|
NM_144687.4(NLRP12):c.3046C>T (p.Arg1016Ter)
|
rs35064500
|
0.00470
|
NM_000088.4(COL1A1):c.3243T>C (p.Val1081=)
|
rs1800217
|
0.00465
|
NM_001972.4(ELANE):c.99C>T (p.Gly33=)
|
rs17216628
|
0.00463
|
NM_006182.4(DDR2):c.408T>C (p.His136=)
|
rs2271305
|
0.00463
|
NM_005529.7(HSPG2):c.1998+9C>T
|
rs377228309
|
0.00461
|
NM_000243.3(MEFV):c.1356+31G>T
|
rs142775938
|
0.00459
|
NM_000243.3(MEFV):c.1760-4G>A
|
rs79662406
|
0.00459
|
NM_001844.5(COL2A1):c.4327G>A (p.Gly1443Ser)
|
rs78690642
|
0.00459
|
NM_001844.5(COL2A1):c.1221C>T (p.Ser407=)
|
rs150865922
|
0.00456
|
NM_030777.4(SLC2A10):c.*1449T>C
|
rs181344940
|
0.00451
|
NM_001110556.2(FLNA):c.1176G>A (p.Glu392=)
|
rs201173693
|
0.00446
|
NM_015922.3(NSDHL):c.1054C>T (p.Leu352=)
|
rs142351862
|
0.00444
|
NM_003183.6(ADAM17):c.148A>G (p.Ile50Val)
|
rs61754178
|
0.00443
|
NM_003242.6(TGFBR2):c.*858C>T
|
rs142745018
|
0.00443
|
NM_001330360.2(POLA1):c.1687-15C>T
|
rs11573348
|
0.00442
|
NM_000081.4(LYST):c.10800+4G>T
|
rs41308172
|
0.00441
|
NM_001375808.2(LPIN2):c.*2553G>A
|
rs149332969
|
0.00440
|
NM_000138.5(FBN1):c.6594C>T (p.Pro2198=)
|
rs111844882
|
0.00439
|
NM_001366385.1(CARD14):c.185G>A (p.Arg62Gln)
|
rs115582620
|
0.00439
|
NM_003242.6(TGFBR2):c.*1507A>G
|
rs139938413
|
0.00439
|
NM_000138.5(FBN1):c.1746C>T (p.Cys582=)
|
rs112366266
|
0.00436
|
NM_000138.5(FBN1):c.3675G>A (p.Pro1225=)
|
rs148147223
|
0.00436
|
NM_000138.5(FBN1):c.4905C>G (p.Thr1635=)
|
rs113115949
|
0.00435
|
NM_017617.5(NOTCH1):c.3333C>T (p.Asp1111=)
|
rs61751545
|
0.00435
|
NM_173842.3(IL1RN):c.465C>T (p.Pro155=)
|
rs2232355
|
0.00435
|
NM_080425.4(GNAS):c.1221C>G (p.Thr407=)
|
rs200430001
|
0.00433
|
NM_003242.6(TGFBR2):c.*599C>A
|
rs79755385
|
0.00431
|
NM_001999.4(FBN2):c.1040G>A (p.Arg347His)
|
rs112428886
|
0.00427
|
NM_001042492.3(NF1):c.2985G>C (p.Leu995=)
|
rs17881467
|
0.00426
|
NM_024529.5(CDC73):c.*2304T>G
|
rs144363422
|
0.00424
|
NM_058172.6(ANTXR2):c.*4630A>T
|
rs190569143
|
0.00423
|
NM_002608.4(PDGFB):c.635C>T (p.Thr212Met)
|
rs114786489
|
0.00422
|
NM_001366385.1(CARD14):c.2822G>A (p.Arg941Gln)
|
rs74000616
|
0.00421
|
NM_003242.6(TGFBR2):c.*1815C>T
|
rs146296952
|
0.00421
|
NM_004273.5(CHST3):c.1428C>T (p.Phe476=)
|
rs75845750
|
0.00421
|
NM_005529.7(HSPG2):c.8330G>A (p.Arg2777Gln)
|
rs146305109
|
0.00421
|
NM_006185.4(NUMA1):c.2937T>C (p.Asn979=)
|
rs142372284
|
0.00416
|
NM_003242.6(TGFBR2):c.*149A>T
|
rs143024112
|
0.00415
|
NM_006185.4(NUMA1):c.5285G>A (p.Arg1762His)
|
rs149588226
|
0.00414
|
NM_030777.4(SLC2A10):c.366C>T (p.Tyr122=)
|
rs34990188
|
0.00411
|
NM_003036.4(SKI):c.1163C>T (p.Ala388Val)
|
rs75280988
|
0.00410
|
NM_001853.4(COL9A3):c.2010C>T (p.Ala670=)
|
rs34911725
|
0.00408
|
NM_001852.4(COL9A2):c.1870+9T>C
|
rs139929272
|
0.00406
|
NM_004612.4(TGFBR1):c.*3261T>C
|
rs117440593
|
0.00406
|
NM_000127.3(EXT1):c.1959G>A (p.Glu653=)
|
rs142710059
|
0.00404
|
NM_003664.5(AP3B1):c.2042A>G (p.Glu681Gly)
|
rs113301033
|
0.00400
|
NM_005546.4(ITK):c.578G>A (p.Arg193Gln)
|
rs17054374
|
0.00396
|
NM_000081.4(LYST):c.1686G>C (p.Gln562His)
|
rs77091385
|
0.00394
|
NM_144687.4(NLRP12):c.910C>T (p.His304Tyr)
|
rs141245482
|
0.00392
|
NM_001330360.2(POLA1):c.2267A>G (p.Lys756Arg)
|
rs2230928
|
0.00390
|
NM_001083116.3(PRF1):c.444C>T (p.Ala148=)
|
rs61737403
|
0.00389
|
NM_001370466.1(NOD2):c.974A>G (p.His325Arg)
|
rs5743272
|
0.00389
|
NM_001558.4(IL10RA):c.1188G>A (p.Arg396=)
|
rs35465632
|
0.00388
|
NM_001999.4(FBN2):c.5496C>T (p.Arg1832=)
|
rs35346129
|
0.00388
|
NM_001366385.1(CARD14):c.2859G>A (p.Ala953=)
|
rs139969019
|
0.00386
|
NM_058172.6(ANTXR2):c.*1563A>G
|
rs143402499
|
0.00386
|
NM_001375808.2(LPIN2):c.*1586G>A
|
rs144299426
|
0.00382
|
NM_005157.6(ABL1):c.249T>G (p.Thr83=)
|
rs111886835
|
0.00382
|
NM_001854.4(COL11A1):c.130G>A (p.Ala44Thr)
|
rs150090939
|
0.00381
|
NM_058172.6(ANTXR2):c.*2245G>A
|
rs116794675
|
0.00380
|
NM_148919.4(PSMB8):c.483G>A (p.Gln161=)
|
rs41270492
|
0.00378
|
NM_003242.6(TGFBR2):c.*105G>A
|
rs149112005
|
0.00377
|
NM_004612.4(TGFBR1):c.*3262C>T
|
rs78385793
|
0.00377
|
NM_000288.4(PEX7):c.377A>C (p.Gln126Pro)
|
rs113268723
|
0.00376
|
NM_022153.2(VSIR):c.839C>T (p.Ser280Leu)
|
rs143240262
|
0.00376
|
NM_183235.3(RAB27A):c.594G>A (p.Val198=)
|
rs141222527
|
0.00374
|
NM_005430.4(WNT1):c.264T>A (p.Ser88Arg)
|
rs61758378
|
0.00373
|
NM_000138.5(FBN1):c.306C>T (p.Cys102=)
|
rs25388
|
0.00372
|
NM_207122.2(EXT2):c.*56G>A
|
rs77554103
|
0.00371
|
NM_004836.7(EIF2AK3):c.154G>A (p.Ala52Thr)
|
rs201593811
|
0.00370
|
NM_006929.5(SKIC2):c.1173G>A (p.Pro391=)
|
rs61761945
|
0.00370
|
NM_000243.3(MEFV):c.42G>A (p.Glu14=)
|
rs113314808
|
0.00369
|
NM_006949.4(STXBP2):c.609C>T (p.His203=)
|
rs113694233
|
0.00367
|
NM_022168.4(IFIH1):c.1879G>T (p.Glu627Ter)
|
rs35744605
|
0.00367
|
NM_000095.3(COMP):c.2227+8G>A
|
rs116499541
|
0.00363
|
NM_001852.4(COL9A2):c.1323+18T>G
|
rs186166446
|
0.00363
|
NM_005228.5(EGFR):c.3485G>A (p.Ser1162Asn)
|
rs41321844
|
0.00362
|
NM_000138.5(FBN1):c.*1298C>G
|
rs143446014
|
0.00360
|
NM_003238.6(TGFB2):c.619G>C (p.Val207Leu)
|
rs10482810
|
0.00359
|
NM_004612.4(TGFBR1):c.*3192T>C
|
rs148797981
|
0.00356
|
NM_003978.5(PSTPIP1):c.1112C>T (p.Thr371Ile)
|
rs34908107
|
0.00355
|
NM_000431.4(MVK):c.769-7T>G
|
rs104895331
|
0.00354
|
NM_000081.4(LYST):c.5291G>C (p.Gly1764Ala)
|
rs35413645
|
0.00350
|
NM_006929.5(SKIC2):c.2574G>A (p.Val858=)
|
rs139281450
|
0.00350
|
NM_031229.4(RBCK1):c.756+3G>A
|
rs146804136
|
0.00350
|
NM_001851.6(COL9A1):c.1349A>G (p.Glu450Gly)
|
rs77706858
|
0.00348
|
NM_012275.3(IL36RN):c.140A>G (p.Asn47Ser)
|
rs28938777
|
0.00348
|
NM_003334.4(UBA1):c.1702C>G (p.Leu568Val)
|
rs150574055
|
0.00347
|
NM_005529.7(HSPG2):c.11294G>A (p.Ser3765Asn)
|
rs114223739
|
0.00347
|
NM_003978.5(PSTPIP1):c.*38T>C
|
rs201535027
|
0.00346
|
NM_001854.4(COL11A1):c.3189G>A (p.Gly1063=)
|
rs75915098
|
0.00345
|
NM_000142.5(FGFR3):c.1150T>C (p.Phe384Leu)
|
rs17881656
|
0.00342
|
NM_000243.3(MEFV):c.1467G>A (p.Gln489=)
|
rs61732424
|
0.00341
|
NM_017617.5(NOTCH1):c.5073G>A (p.Gln1691=)
|
rs61751538
|
0.00341
|
NM_001370466.1(NOD2):c.2026C>T (p.Arg676Cys)
|
rs5743277
|
0.00340
|
NM_000243.3(MEFV):c.333G>A (p.Gly111=)
|
rs61732425
|
0.00339
|
NM_001999.4(FBN2):c.7824C>T (p.Thr2608=)
|
rs28763922
|
0.00339
|
NM_001171.6(ABCC6):c.1636-10C>T
|
rs61480102
|
0.00335
|
NM_001457.4(FLNB):c.3240G>A (p.Pro1080=)
|
rs77989135
|
0.00333
|
NM_000628.5(IL10RB):c.-72C>A
|
rs45607743
|
0.00332
|
NM_130384.3(ATRIP):c.*267T>C
|
rs148393533
|
0.00332
|
NM_207122.2(EXT2):c.*101G>C
|
rs117755165
|
0.00332
|
NM_058172.6(ANTXR2):c.*3902C>T
|
rs191348548
|
0.00329
|
NM_000302.4(PLOD1):c.1534C>T (p.Arg512Cys)
|
rs138490756
|
0.00328
|
NM_003242.6(TGFBR2):c.*2483T>G
|
rs79535432
|
0.00328
|
NM_001999.4(FBN2):c.4141C>A (p.His1381Asn)
|
rs78727187
|
0.00327
|
NM_032638.5(GATA2):c.710G>A (p.Gly237Asp)
|
rs191501191
|
0.00327
|
NM_005529.7(HSPG2):c.2074G>A (p.Val692Met)
|
rs143669458
|
0.00326
|
NM_000243.3(MEFV):c.1759+8C>T
|
rs77380520
|
0.00321
|
NM_005529.7(HSPG2):c.11475C>T (p.Ile3825=)
|
rs111866498
|
0.00321
|
NM_017617.5(NOTCH1):c.1669+13G>A
|
rs147260092
|
0.00319
|
NM_017617.5(NOTCH1):c.2542G>A (p.Glu848Lys)
|
rs35136134
|
0.00318
|
NM_000243.3(MEFV):c.910G>A (p.Gly304Arg)
|
rs75977701
|
0.00316
|
NM_198253.3(TERT):c.1234C>T (p.His412Tyr)
|
rs34094720
|
0.00316
|
NM_000093.5(COL5A1):c.278C>T (p.Ala93Val)
|
rs41306397
|
0.00315
|
NM_000138.5(FBN1):c.8283A>T (p.Thr2761=)
|
rs146120912
|
0.00314
|
NM_005902.4(SMAD3):c.*1777_*1778insCCT
|
rs369386357
|
0.00314
|
NM_005529.7(HSPG2):c.10498G>A (p.Val3500Met)
|
rs143543800
|
0.00313
|
NM_001065.4(TNFRSF1A):c.-96C>T
|
rs115164694
|
0.00312
|
NM_003183.6(ADAM17):c.232C>G (p.His78Asp)
|
rs77759270
|
0.00312
|
NM_000431.4(MVK):c.*90G>A
|
rs142150449
|
0.00310
|
NM_001042492.3(NF1):c.340C>T (p.Leu114=)
|
rs7207410
|
0.00309
|
NM_005157.6(ABL1):c.822+16C>G
|
rs12551730
|
0.00309
|
NM_001370466.1(NOD2):c.2183C>T (p.Ala728Val)
|
rs61747625
|
0.00307
|
NM_002661.5(PLCG2):c.2355C>T (p.Ser785=)
|
rs185307548
|
0.00307
|
NM_000393.5(COL5A2):c.198T>C (p.Asn66=)
|
rs76511879
|
0.00306
|
NM_000435.3(NOTCH3):c.2202C>T (p.Ala734=)
|
rs140040122
|
0.00306
|
NM_001127671.2(LIFR):c.2498-7G>A
|
rs113078097
|
0.00306
|
NM_024408.4(NOTCH2):c.1567+12C>T
|
rs78223268
|
0.00306
|
NM_001111.5(ADAR):c.2553C>T (p.Cys851=)
|
rs138927668
|
0.00304
|
NM_000081.4(LYST):c.3359G>T (p.Ser1120Ile)
|
rs143223086
|
0.00302
|
NM_030777.4(SLC2A10):c.674G>A (p.Arg225His)
|
rs34295241
|
0.00302
|
NM_052989.3(IFT122):c.321A>G (p.Gln107=)
|
rs138793724
|
0.00299
|
NM_003978.5(PSTPIP1):c.908C>T (p.Pro303Leu)
|
rs189773500
|
0.00298
|
NM_000431.4(MVK):c.226+4A>G
|
rs145732290
|
0.00297
|
NM_003238.6(TGFB2):c.272G>A (p.Arg91His)
|
rs10482721
|
0.00297
|
NM_000435.3(NOTCH3):c.2411-4C>G
|
rs190177286
|
0.00295
|
NM_003664.5(AP3B1):c.2613C>T (p.His871=)
|
rs144420604
|
0.00295
|
NM_001844.5(COL2A1):c.1433C>T (p.Pro478Leu)
|
rs201823490
|
0.00294
|
NM_002661.5(PLCG2):c.600A>G (p.Glu200=)
|
rs142140333
|
0.00294
|
NM_144687.4(NLRP12):c.1437G>A (p.Gln479=)
|
rs77667763
|
0.00294
|
NM_001083116.3(PRF1):c.403G>A (p.Val135Met)
|
rs12263572
|
0.00293
|
NM_001282225.2(ADA2):c.1081+18G>A
|
rs200622282
|
0.00291
|
NM_001370466.1(NOD2):c.485C>T (p.Thr162Met)
|
rs61755182
|
0.00291
|
NM_005529.7(HSPG2):c.9514-3C>T
|
rs114851424
|
0.00291
|
NM_001558.4(IL10RA):c.67+8T>C
|
rs200992970
|
0.00290
|
NM_004612.4(TGFBR1):c.1125A>C (p.Thr375=)
|
rs7861780
|
0.00288
|
NM_001999.4(FBN2):c.7181T>C (p.Ile2394Thr)
|
rs28763926
|
0.00287
|
NM_002609.4(PDGFRB):c.946G>A (p.Val316Met)
|
rs41287112
|
0.00287
|
NM_000628.5(IL10RB):c.73G>A (p.Glu25Lys)
|
rs80027572
|
0.00286
|
NM_001854.4(COL11A1):c.4416C>A (p.Asp1472Glu)
|
rs55821405
|
0.00284
|
NM_003978.5(PSTPIP1):c.236C>T (p.Ser79Phe)
|
rs77026017
|
0.00284
|
NM_001189.4(NKX3-2):c.235A>T (p.Thr79Ser)
|
rs200167000
|
0.00283
|
NM_017617.5(NOTCH1):c.3294C>T (p.Ser1098=)
|
rs61751546
|
0.00283
|
NM_020800.3(IFT80):c.1076+9C>G
|
rs139408398
|
0.00283
|
NM_000081.4(LYST):c.7870C>T (p.Arg2624Trp)
|
rs150306354
|
0.00280
|
NM_144687.3(NLRP12):c.*362G>T
|
rs562576939
|
0.00280
|
NM_001367624.2(ZNF469):c.7611G>C (p.Glu2537Asp)
|
rs199519673
|
0.00279
|
NM_004304.5(ALK):c.3837-9_3837-7dup
|
rs373764155
|
0.00279
|
NM_004612.4(TGFBR1):c.*1515G>A
|
rs11568812
|
0.00279
|
NM_001844.5(COL2A1):c.2334C>T (p.Ala778=)
|
rs35504014
|
0.00278
|
NM_004612.4(TGFBR1):c.*4202A>G
|
rs200206515
|
0.00278
|
NM_144687.4(NLRP12):c.2141A>G (p.Asn714Ser)
|
rs150848917
|
0.00278
|
NM_001999.4(FBN2):c.-344G>C
|
rs564044015
|
0.00277
|
NM_058172.6(ANTXR2):c.*5223G>T
|
rs192983822
|
0.00277
|
NM_000081.4(LYST):c.1384C>T (p.Pro462Ser)
|
rs77848653
|
0.00276
|
NM_004612.4(TGFBR1):c.*566T>C
|
rs11568808
|
0.00275
|
NM_001558.4(IL10RA):c.696C>T (p.Thr232=)
|
rs4252311
|
0.00274
|
NM_001370466.1(NOD2):c.1188G>T (p.Val396=)
|
rs77966199
|
0.00273
|
NM_004612.4(TGFBR1):c.*4565T>C
|
rs138721378
|
0.00273
|
NM_005902.4(SMAD3):c.*291G>A
|
rs146287966
|
0.00270
|
NM_024753.5(TTC21B):c.3416T>C (p.Val1139Ala)
|
rs149454830
|
0.00267
|
NM_000393.5(COL5A2):c.2032-7G>A
|
rs141571092
|
0.00265
|
NM_005529.7(HSPG2):c.7086C>T (p.Cys2362=)
|
rs139001173
|
0.00265
|
NM_144687.4(NLRP12):c.2701G>C (p.Val901Leu)
|
rs104895568
|
0.00265
|
NM_005902.4(SMAD3):c.*579del
|
rs550707472
|
0.00264
|
NM_000431.4(MVK):c.238G>A (p.Val80Ile)
|
rs76914224
|
0.00259
|
NM_002609.4(PDGFRB):c.3287C>T (p.Ala1096Val)
|
rs114435947
|
0.00259
|
NM_001367624.2(ZNF469):c.869C>T (p.Ala290Val)
|
rs117501524
|
0.00258
|
NM_004752.4(GCM2):c.943A>G (p.Asn315Asp)
|
rs114070356
|
0.00258
|
NM_005529.7(HSPG2):c.12982G>A (p.Ala4328Thr)
|
rs114015043
|
0.00254
|
NM_000093.5(COL5A1):c.4410C>T (p.Pro1470=)
|
rs41310953
|
0.00253
|
NM_001375808.2(LPIN2):c.1510C>T (p.Leu504Phe)
|
rs104895500
|
0.00253
|
NM_022168.4(IFIH1):c.2105C>T (p.Thr702Ile)
|
rs72650663
|
0.00253
|
NM_000081.4(LYST):c.2363+4T>C
|
rs201398337
|
0.00252
|
NM_001122681.2(SH3BP2):c.*830G>A
|
rs561967879
|
0.00252
|
NM_015474.4(SAMHD1):c.77C>T (p.Pro26Leu)
|
rs147240777
|
0.00252
|
NM_001854.4(COL11A1):c.4185C>T (p.Val1395=)
|
rs112577505
|
0.00251
|
NM_001999.4(FBN2):c.8247A>G (p.Thr2749=)
|
rs116413101
|
0.00251
|
NM_000243.3(MEFV):c.97G>T (p.Val33Leu)
|
rs11466016
|
0.00250
|
NM_004612.4(TGFBR1):c.*4493G>A
|
rs41274644
|
0.00250
|
NM_000243.3(MEFV):c.1587+18C>T
|
rs11466030
|
0.00248
|
NM_015932.6(POMP):c.101+9G>A
|
rs116855705
|
0.00248
|
NM_025132.4(WDR19):c.3183+9G>A
|
rs138318063
|
0.00248
|
NM_001171.6(ABCC6):c.1248C>T (p.Asp416=)
|
rs143487365
|
0.00247
|
NM_000112.4(SLC26A2):c.987T>C (p.Leu329=)
|
rs116302615
|
0.00246
|
NM_000393.5(COL5A2):c.2562C>T (p.Asp854=)
|
rs148430780
|
0.00245
|
NM_001375808.2(LPIN2):c.120T>C (p.Asp40=)
|
rs143261167
|
0.00243
|
NM_005529.7(HSPG2):c.10677C>T (p.Asn3559=)
|
rs138049720
|
0.00243
|
NM_001852.4(COL9A2):c.1007C>A (p.Ala336Glu)
|
rs150075912
|
0.00242
|
NM_001852.4(COL9A2):c.1982C>T (p.Pro661Leu)
|
rs150687987
|
0.00242
|
NM_024408.4(NOTCH2):c.7042T>C (p.Leu2348=)
|
rs61734328
|
0.00241
|
NM_030777.4(SLC2A10):c.*29C>G
|
rs34965637
|
0.00241
|
NM_030777.4(SLC2A10):c.1548G>T (p.Arg516=)
|
rs116344406
|
0.00241
|
NM_002474.3(MYH11):c.3828G>A (p.Ala1276=)
|
rs113154524
|
0.00240
|
NM_030777.4(SLC2A10):c.*194G>T
|
rs192739192
|
0.00240
|
NM_003664.5(AP3B1):c.1040+9T>A
|
rs201876461
|
0.00237
|
NM_005529.7(HSPG2):c.10110G>A (p.Lys3370=)
|
rs141963344
|
0.00237
|
NM_183235.3(RAB27A):c.468-3C>T
|
rs113895512
|
0.00237
|
NM_001065.4(TNFRSF1A):c.1110C>T (p.Arg370=)
|
rs201683984
|
0.00236
|
NM_002609.4(PDGFRB):c.2523G>A (p.Lys841=)
|
rs41287108
|
0.00236
|
NM_207122.2(EXT2):c.710C>T (p.Ser237Leu)
|
rs139525250
|
0.00236
|
NM_000393.5(COL5A2):c.4389A>G (p.Glu1463=)
|
rs146100075
|
0.00235
|
NM_001111.5(ADAR):c.1003A>T (p.Ile335Phe)
|
rs34154757
|
0.00235
|
NM_002661.5(PLCG2):c.1557+6G>C
|
rs139565830
|
0.00235
|
NM_003982.4(SLC7A7):c.1380C>G (p.Ile460Met)
|
rs139415285
|
0.00235
|
NM_017617.5(NOTCH1):c.5988G>A (p.Thr1996=)
|
rs186453356
|
0.00235
|
NM_053025.4(MYLK):c.3242A>G (p.His1081Arg)
|
rs113491038
|
0.00235
|
NM_001844.5(COL2A1):c.3151G>A (p.Ala1051Thr)
|
rs41272041
|
0.00234
|
NM_001854.4(COL11A1):c.2921C>A (p.Pro974Gln)
|
rs78046647
|
0.00233
|
NM_003978.5(PSTPIP1):c.543G>A (p.Lys181=)
|
rs375950478
|
0.00232
|
NM_004239.4(TRIP11):c.5137G>C (p.Glu1713Gln)
|
rs137974620
|
0.00232
|
NM_001853.4(COL9A3):c.755G>A (p.Arg252Gln)
|
rs139573483
|
0.00231
|
NM_003242.6(TGFBR2):c.1525-8C>T
|
rs11466530
|
0.00230
|
NM_080680.3(COL11A2):c.*4C>T
|
rs186720023
|
0.00230
|
NM_006949.4(STXBP2):c.365G>A (p.Arg122His)
|
rs144914451
|
0.00229
|
NM_032193.4(RNASEH2C):c.417C>G (p.Gly139=)
|
rs147021687
|
0.00229
|
NM_022168.4(IFIH1):c.1481G>T (p.Gly494Val)
|
rs147000317
|
0.00228
|
NM_024408.4(NOTCH2):c.7223T>A (p.Leu2408His)
|
rs35586704
|
0.00228
|
NM_001110556.2(FLNA):c.5972C>T (p.Ser1991Leu)
|
rs187029309
|
0.00227
|
NM_001199397.3(NEK1):c.1021G>A (p.Ala341Thr)
|
rs189186475
|
0.00227
|
NM_001282225.2(ADA2):c.1045G>A (p.Val349Ile)
|
rs74317375
|
0.00227
|
NM_003978.5(PSTPIP1):c.786C>T (p.Asp262=)
|
rs35860563
|
0.00224
|
NM_148919.4(PSMB8):c.501C>T (p.Leu167=)
|
rs11540143
|
0.00224
|
NM_004612.4(TGFBR1):c.*2100T>G
|
rs532530728
|
0.00223
|
NM_017617.5(NOTCH1):c.2734C>T (p.Arg912Trp)
|
rs201620358
|
0.00223
|
NM_001367624.2(ZNF469):c.2803G>A (p.Glu935Lys)
|
rs117995699
|
0.00222
|
NM_006929.5(SKIC2):c.2203-12A>G
|
rs114974766
|
0.00222
|
NM_001375808.2(LPIN2):c.1735T>C (p.Ser579Pro)
|
rs150022314
|
0.00221
|
NM_001851.6(COL9A1):c.1089+9C>G
|
rs142247988
|
0.00221
|
NM_012275.3(IL36RN):c.6C>T (p.Val2=)
|
rs28938771
|
0.00221
|
NM_003664.5(AP3B1):c.2730T>C (p.Thr910=)
|
rs143527588
|
0.00220
|
NM_005529.7(HSPG2):c.9789C>A (p.Leu3263=)
|
rs137921473
|
0.00220
|
NM_198253.3(TERT):c.1574-7G>A
|
rs34846301
|
0.00220
|
NM_002474.3(MYH11):c.3652-6C>T
|
rs193922630
|
0.00219
|
NM_080680.3(COL11A2):c.3583-5T>C
|
rs183536190
|
0.00219
|
NM_000316.3(PTH1R):c.299G>A (p.Gly100Asp)
|
rs41290646
|
0.00218
|
NM_000243.3(MEFV):c.329T>C (p.Leu110Pro)
|
rs11466018
|
0.00217
|
NM_000435.3(NOTCH3):c.4552C>A (p.Leu1518Met)
|
rs141320511
|
0.00217
|
NM_005529.7(HSPG2):c.11937C>T (p.Phe3979=)
|
rs143431746
|
0.00217
|
NM_024529.5(CDC73):c.*2085G>C
|
rs150030810
|
0.00217
|
NM_002474.3(MYH11):c.3928G>A (p.Val1310Met)
|
rs7196804
|
0.00216
|
NM_002474.3(MYH11):c.4604G>A (p.Arg1535Gln)
|
rs137934837
|
0.00216
|
NM_001375808.2(LPIN2):c.*1147A>G
|
rs139015163
|
0.00215
|
NM_005902.4(SMAD3):c.*301C>T
|
rs72661159
|
0.00215
|
NM_006397.3(RNASEH2A):c.*123G>A
|
rs533069935
|
0.00215
|
NM_001367624.2(ZNF469):c.8381C>T (p.Thr2794Met)
|
rs202188220
|
0.00214
|
NM_005902.4(SMAD3):c.*2013T>C
|
rs183913368
|
0.00214
|
NM_000435.3(NOTCH3):c.2300G>A (p.Arg767His)
|
rs75291244
|
0.00213
|
NM_003664.5(AP3B1):c.2915A>G (p.Asn972Ser)
|
rs139968311
|
0.00213
|
NM_018699.4(PRDM5):c.1283-5C>T
|
rs185134294
|
0.00213
|
NM_080680.3(COL11A2):c.353G>C (p.Arg118Pro)
|
rs41268014
|
0.00213
|
NM_002661.5(PLCG2):c.1050C>A (p.Arg350=)
|
rs185739725
|
0.00212
|
NM_053025.4(MYLK):c.755-12C>T
|
rs138877679
|
0.00212
|
NM_001999.4(FBN2):c.829G>A (p.Val277Ile)
|
rs146849637
|
0.00210
|
NM_001171.6(ABCC6):c.3507-19C>T
|
rs115016469
|
0.00209
|
NM_004612.4(TGFBR1):c.*1183G>A
|
rs184564501
|
0.00209
|
NM_000431.4(MVK):c.381G>A (p.Pro127=)
|
rs140397628
|
0.00208
|
NM_001367624.2(ZNF469):c.8064C>T (p.Asp2688=)
|
rs558108271
|
0.00208
|
NM_000243.3(MEFV):c.1459G>C (p.Val487Leu)
|
rs104895100
|
0.00207
|
NM_001171.6(ABCC6):c.*38G>A
|
rs59461468
|
0.00206
|
NM_015474.4(SAMHD1):c.237T>C (p.Pro79=)
|
rs7271776
|
0.00206
|
NM_032193.4(RNASEH2C):c.*542G>A
|
rs186106053
|
0.00206
|
NM_052989.3(IFT122):c.3129C>T (p.Arg1043=)
|
rs76881473
|
0.00206
|
NM_000346.4(SOX9):c.685+8G>A
|
rs117696751
|
0.00205
|
NM_001852.4(COL9A2):c.1551C>T (p.Gly517=)
|
rs140697524
|
0.00205
|
NM_001999.4(FBN2):c.7471+6G>A
|
rs200998513
|
0.00205
|
NM_004239.4(TRIP11):c.5629C>A (p.Pro1877Thr)
|
rs148261539
|
0.00204
|
NM_004239.4(TRIP11):c.4413A>C (p.Thr1471=)
|
rs144780536
|
0.00202
|
NM_000243.3(MEFV):c.1173T>C (p.Asp391=)
|
rs146077729
|
0.00201
|
NM_001999.4(FBN2):c.738G>A (p.Ala246=)
|
rs150087436
|
0.00200
|
NM_003664.5(AP3B1):c.1857T>G (p.Leu619=)
|
rs115892142
|
0.00200
|
NM_001844.5(COL2A1):c.2046C>T (p.Asp682=)
|
rs41263851
|
0.00198
|
NM_006929.5(SKIC2):c.2211G>A (p.Pro737=)
|
rs2280773
|
0.00198
|
NM_024408.4(NOTCH2):c.1568-17C>T
|
rs373665797
|
0.00198
|
NM_003977.4(AIP):c.47G>A (p.Arg16His)
|
rs145047094
|
0.00197
|
NM_015474.3(SAMHD1):c.-166G>T
|
rs546207604
|
0.00197
|
NM_024529.5(CDC73):c.*12C>A
|
rs193025205
|
0.00196
|
NM_001042492.3(NF1):c.5035A>G (p.Ile1679Val)
|
rs147327414
|
0.00195
|
NM_001199138.2(NLRC4):c.1683A>G (p.Leu561=)
|
rs148632046
|
0.00195
|
NM_024529.5(CDC73):c.*518A>G
|
rs190433473
|
0.00195
|
NM_001084.5(PLOD3):c.1935+105T>G
|
rs186082235
|
0.00194
|
NM_003242.6(TGFBR2):c.1062C>T (p.Leu354=)
|
rs113194608
|
0.00194
|
NM_144687.4(NLRP12):c.1299A>G (p.Ala433=)
|
rs73608455
|
0.00194
|
NM_199242.3(UNC13D):c.847A>G (p.Ile283Val)
|
rs61754871
|
0.00194
|
NM_001366385.1(CARD14):c.1806G>A (p.Ser602=)
|
rs113127952
|
0.00193
|
NM_003783.3(B3GALT2):c.367T>G (p.Tyr123Asp)
|
rs41265203
|
0.00192
|
NM_080425.4(GNAS):c.484A>G (p.Met162Val)
|
rs138731520
|
0.00192
|
NM_003978.5(PSTPIP1):c.985+6G>C
|
rs139552419
|
0.00191
|
NM_144687.4(NLRP12):c.819T>C (p.Pro273=)
|
rs59749540
|
0.00191
|
NM_001042492.3(NF1):c.7531G>C (p.Val2511Leu)
|
rs2230850
|
0.00189
|
NM_001199397.3(NEK1):c.1581T>C (p.Ala527=)
|
rs184804243
|
0.00188
|
NM_001854.4(COL11A1):c.3979-3T>C
|
rs138464908
|
0.00188
|
NM_003242.6(TGFBR2):c.*1886G>T
|
rs11466535
|
0.00188
|
NM_144687.4(NLRP12):c.1352G>A (p.Arg451His)
|
rs76085152
|
0.00188
|
NM_004944.4(DNASE1L3):c.705-3C>T
|
rs186823038
|
0.00187
|
NM_006929.5(SKIC2):c.1705G>A (p.Val569Met)
|
rs144147284
|
0.00185
|
NM_030777.4(SLC2A10):c.*1272G>C
|
rs562491351
|
0.00185
|
NM_000435.3(NOTCH3):c.509A>G (p.His170Arg)
|
rs147373451
|
0.00184
|
NM_001457.4(FLNB):c.6231C>T (p.Asp2077=)
|
rs145280904
|
0.00184
|
NM_033629.6(TREX1):c.797A>G (p.Glu266Gly)
|
rs55999987
|
0.00184
|
NM_005373.3(MPL):c.677C>A (p.Ser226Tyr)
|
rs141063159
|
0.00183
|
NM_000093.5(COL5A1):c.4230+5C>T
|
rs142248898
|
0.00182
|
NM_003664.5(AP3B1):c.1069A>G (p.Ile357Val)
|
rs142025324
|
0.00182
|
NM_017617.5(NOTCH1):c.4887C>T (p.His1629=)
|
rs61751539
|
0.00182
|
NM_080680.3(COL11A2):c.4521G>A (p.Gln1507=)
|
rs114580597
|
0.00182
|
NM_144687.4(NLRP12):c.2227A>C (p.Lys743Gln)
|
rs74373537
|
0.00180
|
NM_001999.4(FBN2):c.5353+19C>T
|
rs183524866
|
0.00179
|
NM_001558.4(IL10RA):c.144C>T (p.Ile48=)
|
rs140466541
|
0.00178
|
NM_003036.4(SKI):c.1211+19C>T
|
rs182600375
|
0.00178
|
NM_032193.4(RNASEH2C):c.468+13G>A
|
rs182000627
|
0.00178
|
NM_000089.4(COL1A2):c.808G>A (p.Val270Ile)
|
rs368468
|
0.00177
|
NM_000090.4(COL3A1):c.812G>A (p.Arg271Gln)
|
rs112185887
|
0.00176
|
NM_001375808.2(LPIN2):c.-10+1381T>C
|
rs566304730
|
0.00176
|
NM_001277126.1(NLRP12):c.*471A>G
|
rs544178725
|
0.00175
|
NM_004944.4(DNASE1L3):c.543G>A (p.Ala181=)
|
rs61730077
|
0.00175
|
NM_058172.6(ANTXR2):c.916G>C (p.Gly306Arg)
|
rs202143525
|
0.00175
|
NM_148919.4(PSMB8):c.732C>T (p.Gly244=)
|
rs78909544
|
0.00175
|
NM_001122681.2(SH3BP2):c.*102G>T
|
rs183257237
|
0.00173
|
NM_054027.6(ANKH):c.1237G>A (p.Ala413Thr)
|
rs112513380
|
0.00173
|
NM_001853.4(COL9A3):c.1449C>T (p.Asn483=)
|
rs151056612
|
0.00172
|
NM_002474.3(MYH11):c.5800A>T (p.Thr1934Ser)
|
rs113667224
|
0.00171
|
NM_017617.5(NOTCH1):c.4028C>T (p.Ala1343Val)
|
rs183156491
|
0.00171
|
NM_001352005.2(NTM):c.937G>A (p.Val313Met)
|
rs201653643
|
0.00170
|
NM_001611.5(ACP5):c.860A>C (p.Asp287Ala)
|
rs62638748
|
0.00170
|
NM_001199397.3(NEK1):c.3411G>A (p.Leu1137=)
|
rs56077602
|
0.00169
|
NM_000138.5(FBN1):c.3509G>A (p.Arg1170His)
|
rs137854475
|
0.00168
|
NM_001366385.1(CARD14):c.526G>C (p.Asp176His)
|
rs144475004
|
0.00168
|
NM_003036.4(SKI):c.2184G>C (p.Pro728=)
|
rs543584871
|
0.00167
|
NM_004239.4(TRIP11):c.5125G>A (p.Ala1709Thr)
|
rs141965887
|
0.00167
|
NM_001367624.2(ZNF469):c.751C>A (p.Pro251Thr)
|
rs540655479
|
0.00166
|
NM_003242.6(TGFBR2):c.1602G>A (p.Val534=)
|
rs140818646
|
0.00166
|
NM_003978.5(PSTPIP1):c.657A>C (p.Gln219His)
|
rs139362350
|
0.00166
|
NM_000316.3(PTH1R):c.448C>T (p.Arg150Cys)
|
rs121434601
|
0.00165
|
NM_000093.5(COL5A1):c.4065C>T (p.Pro1355=)
|
rs61737906
|
0.00164
|
NM_003978.5(PSTPIP1):c.1143C>T (p.Ser381=)
|
rs141227274
|
0.00164
|
NM_000138.5(FBN1):c.2420-8T>C
|
rs140582
|
0.00163
|
NM_000388.4(CASR):c.748G>A (p.Glu250Lys)
|
rs62269092
|
0.00163
|
NM_199242.3(UNC13D):c.2341G>A (p.Val781Ile)
|
rs149871493
|
0.00162
|
NM_144687.4(NLRP12):c.1063G>A (p.Glu355Lys)
|
rs143855597
|
0.00161
|
NM_000093.5(COL5A1):c.3259-8C>T
|
rs146461106
|
0.00159
|
NM_001375808.2(LPIN2):c.1410C>T (p.Thr470=)
|
rs35932462
|
0.00159
|
NM_001844.5(COL2A1):c.3003+9G>A
|
rs200403247
|
0.00159
|
NM_032193.4(RNASEH2C):c.468G>T (p.Ala156=)
|
rs61736590
|
0.00159
|
NM_001999.4(FBN2):c.2940C>T (p.Cys980=)
|
rs143255082
|
0.00158
|
NM_001999.4(FBN2):c.5448A>G (p.Pro1816=)
|
rs138022198
|
0.00158
|
NM_001370466.1(NOD2):c.2325G>T (p.Val775=)
|
rs104895495
|
0.00157
|
NM_001282225.2(ADA2):c.927G>A (p.Met309Ile)
|
rs146597836
|
0.00156
|
NM_004612.4(TGFBR1):c.*4809A>T
|
rs185400896
|
0.00156
|
NM_000302.4(PLOD1):c.77-3358C>T
|
rs534978828
|
0.00153
|
NM_001171.6(ABCC6):c.2781C>T (p.Tyr927=)
|
rs61731973
|
0.00153
|
NM_005902.4(SMAD3):c.*1880C>T
|
rs144205938
|
0.00153
|
NM_023110.3(FGFR1):c.336C>T (p.Thr112=)
|
rs148480919
|
0.00153
|
NM_198282.4(STING1):c.762G>A (p.Ala254=)
|
rs11554777
|
0.00153
|
NM_001999.4(FBN2):c.953-8T>G
|
rs201818403
|
0.00152
|
NM_058172.6(ANTXR2):c.*242A>G
|
rs139631974
|
0.00151
|
NM_002474.3(MYH11):c.5566C>T (p.Leu1856=)
|
rs142639688
|
0.00150
|
NM_005902.4(SMAD3):c.*1181C>T
|
rs72661160
|
0.00149
|
NM_000081.4(LYST):c.6710A>C (p.Gln2237Pro)
|
rs138443479
|
0.00148
|
NM_000138.5(FBN1):c.3069G>A (p.Lys1023=)
|
rs199789628
|
0.00148
|
NM_000138.5(FBN1):c.8502T>C (p.Thr2834=)
|
rs363847
|
0.00148
|
NM_000393.5(COL5A2):c.1618-19C>G
|
rs189970491
|
0.00148
|
NM_001353214.3(DYM):c.620+4T>G
|
rs201652921
|
0.00148
|
NM_003036.4(SKI):c.1196C>T (p.Ala399Val)
|
rs141862996
|
0.00148
|
NM_001199138.2(NLRC4):c.632G>A (p.Gly211Glu)
|
rs34577313
|
0.00146
|
NM_000138.5(FBN1):c.-176A>T
|
rs560004254
|
0.00145
|
NM_015922.3(NSDHL):c.893G>T (p.Trp298Leu)
|
rs139186585
|
0.00143
|
NM_001032283.3(TMPO):c.565+1696C>T
|
rs141443652
|
0.00142
|
NM_001375808.2(LPIN2):c.991G>T (p.Ala331Ser)
|
rs80338805
|
0.00142
|
NM_001844.5(COL2A1):c.2130C>T (p.Pro710=)
|
rs35656892
|
0.00142
|
NM_004752.4(GCM2):c.306G>A (p.Arg102=)
|
rs149143032
|
0.00142
|
NM_144687.4(NLRP12):c.3024C>T (p.Asn1008=)
|
rs140769141
|
0.00142
|
NM_024408.4(NOTCH2):c.6223G>A (p.Val2075Met)
|
rs150516342
|
0.00141
|
NM_000431.4(MVK):c.924C>T (p.Leu308=)
|
rs72648042
|
0.00140
|
NM_001110556.2(FLNA):c.1875C>T (p.Asp625=)
|
rs200660642
|
0.00140
|
NM_001367624.2(ZNF469):c.2270T>G (p.Leu757Arg)
|
rs753664726
|
0.00140
|
NM_001457.4(FLNB):c.4929C>T (p.Ala1643=)
|
rs149070858
|
0.00140
|
NM_001243133.2(NLRP3):c.1119G>A (p.Glu373=)
|
rs138613962
|
0.00139
|
NM_001844.5(COL2A1):c.3534T>C (p.Asn1178=)
|
rs34613777
|
0.00138
|
NM_015922.3(NSDHL):c.306C>T (p.Phe102=)
|
rs141089248
|
0.00138
|
NM_001375808.2(LPIN2):c.*2076C>A
|
rs112529707
|
0.00137
|
NM_001999.4(FBN2):c.2260G>A (p.Gly754Ser)
|
rs145259927
|
0.00137
|
NM_001999.4(FBN2):c.2555-7A>G
|
rs28763949
|
0.00137
|
NM_001111.5(ADAR):c.1926T>C (p.His642=)
|
rs150171059
|
0.00135
|
NM_001999.4(FBN2):c.*371T>G
|
rs531108136
|
0.00135
|
NM_014639.4(SKIC3):c.1392C>T (p.Tyr464=)
|
rs142058280
|
0.00135
|
NM_014639.4(SKIC3):c.1427C>G (p.Thr476Arg)
|
rs148648401
|
0.00135
|
NM_032193.4(RNASEH2C):c.-10A>G
|
rs77371161
|
0.00135
|
NM_058172.6(ANTXR2):c.*3649T>A
|
rs147800526
|
0.00135
|
NM_001111.5(ADAR):c.*844G>C
|
rs181589660
|
0.00134
|
NM_001999.4(FBN2):c.8364+7A>T
|
rs185052980
|
0.00134
|
NM_000243.3(MEFV):c.986G>A (p.Arg329His)
|
rs104895112
|
0.00133
|
NM_024529.5(CDC73):c.-95G>A
|
rs143969598
|
0.00133
|
NM_052989.3(IFT122):c.1103G>A (p.Ser368Asn)
|
rs150550701
|
0.00133
|
NM_004612.4(TGFBR1):c.*2685T>G
|
rs145043837
|
0.00132
|
NM_022166.4(XYLT1):c.1588-3C>T
|
rs201818754
|
0.00132
|
NM_024570.4(RNASEH2B):c.859G>T (p.Ala287Ser)
|
rs144408326
|
0.00132
|
NM_001370466.1(NOD2):c.1970G>A (p.Arg657Gln)
|
rs114664276
|
0.00131
|
NM_024408.4(NOTCH2):c.6094C>A (p.His2032Asn)
|
rs143236410
|
0.00131
|
NM_058172.6(ANTXR2):c.324T>C (p.Asp108=)
|
rs184413338
|
0.00131
|
NM_144687.4(NLRP12):c.3004G>A (p.Asp1002Asn)
|
rs144746100
|
0.00131
|
NM_001558.4(IL10RA):c.698T>G (p.Val233Gly)
|
rs138929400
|
0.00130
|
NM_002609.4(PDGFRB):c.581T>C (p.Ile194Thr)
|
rs2229560
|
0.00130
|
NM_003242.6(TGFBR2):c.1119G>A (p.Met373Ile)
|
rs35719192
|
0.00130
|
NM_032193.4(RNASEH2C):c.*1017G>A
|
rs4645938
|
0.00130
|
NM_005902.4(SMAD3):c.*1255A>G
|
rs569581429
|
0.00129
|
NM_022168.4(IFIH1):c.436A>G (p.Ile146Val)
|
rs146721166
|
0.00129
|
NM_000138.5(FBN1):c.3463+3A>G
|
rs80344206
|
0.00128
|
NM_001844.5(COL2A1):c.85+10C>G
|
rs769941617
|
0.00128
|
NM_002661.5(PLCG2):c.3573G>A (p.Glu1191=)
|
rs201682723
|
0.00128
|
NM_030777.4(SLC2A10):c.1512G>A (p.Ser504=)
|
rs117587497
|
0.00128
|
NM_001042492.3(NF1):c.7584A>G (p.Gln2528=)
|
rs55865524
|
0.00127
|
NM_001370466.1(NOD2):c.2296G>A (p.Val766Met)
|
rs104895444
|
0.00127
|
NM_144687.4(NLRP12):c.1731G>A (p.Lys577=)
|
rs73608454
|
0.00126
|
NM_000628.5(IL10RB):c.442G>A (p.Val148Met)
|
rs45545138
|
0.00125
|
NM_000093.5(COL5A1):c.193C>T (p.Arg65Trp)
|
rs139468527
|
0.00124
|
NM_005373.3(MPL):c.754T>C (p.Tyr252His)
|
rs141311765
|
0.00124
|
NM_012275.3(IL36RN):c.169G>A (p.Val57Ile)
|
rs77864207
|
0.00124
|
NM_001042492.3(NF1):c.1810T>C (p.Leu604=)
|
rs142712751
|
0.00123
|
NM_001122681.2(SH3BP2):c.937G>A (p.Gly313Arg)
|
rs141518457
|
0.00123
|
NM_001558.4(IL10RA):c.*133C>T
|
rs752174
|
0.00123
|
NM_004273.5(CHST3):c.*7C>T
|
rs202242499
|
0.00123
|
NM_000243.3(MEFV):c.124C>T (p.Arg42Trp)
|
rs61754767
|
0.00121
|
NM_001375808.2(LPIN2):c.*1077C>G
|
rs563088438
|
0.00121
|
NM_022168.4(IFIH1):c.1097T>A (p.Val366Glu)
|
rs140977021
|
0.00121
|
NM_000393.5(COL5A2):c.4240G>A (p.Asp1414Asn)
|
rs139229616
|
0.00120
|
NM_001039569.2(AP1S3):c.64A>G (p.Thr22Ala)
|
rs149183052
|
0.00120
|
NM_001999.4(FBN2):c.255-18C>A
|
rs200300875
|
0.00120
|
NM_001999.4(FBN2):c.8304C>T (p.Asn2768=)
|
rs28763920
|
0.00120
|
NM_212482.4(FN1):c.6923T>C (p.Val2308Ala)
|
rs545761792
|
0.00120
|
NM_000393.5(COL5A2):c.1301C>T (p.Thr434Met)
|
rs145850743
|
0.00118
|
NM_001199138.2(NLRC4):c.2945C>G (p.Ala982Gly)
|
rs147896952
|
0.00118
|
NM_005529.7(HSPG2):c.5160C>T (p.Ser1720=)
|
rs138980184
|
0.00118
|
NM_024570.4(RNASEH2B):c.203A>G (p.Glu68Gly)
|
rs148811739
|
0.00118
|
NM_144687.4(NLRP12):c.2692G>T (p.Asp898Tyr)
|
rs138514430
|
0.00118
|
NM_001999.4(FBN2):c.1592G>C (p.Gly531Ala)
|
rs34450503
|
0.00117
|
NM_025132.4(WDR19):c.2702A>G (p.Tyr901Cys)
|
rs76326086
|
0.00117
|
NM_001199138.2(NLRC4):c.2614+12A>T
|
rs187140134
|
0.00116
|
NM_001457.4(FLNB):c.2493C>T (p.Pro831=)
|
rs145952210
|
0.00116
|
NM_001854.4(COL11A1):c.3277-13A>C
|
rs371455495
|
0.00116
|
NM_002474.3(MYH11):c.4506C>T (p.Leu1502=)
|
rs76890940
|
0.00116
|
NM_003242.6(TGFBR2):c.*2066G>A
|
rs566913021
|
0.00116
|
NM_000138.5(FBN1):c.6073G>T (p.Ala2025Ser)
|
rs113577372
|
0.00115
|
NM_003242.6(TGFBR2):c.1657T>A (p.Ser553Thr)
|
rs112215250
|
0.00115
|
NM_003977.4(AIP):c.911G>A (p.Arg304Gln)
|
rs104894190
|
0.00115
|
NM_004612.4(TGFBR1):c.457G>A (p.Val153Ile)
|
rs56014374
|
0.00115
|
NM_004944.4(DNASE1L3):c.501G>A (p.Glu167=)
|
rs149185668
|
0.00114
|
NM_000138.5(FBN1):c.4441A>G (p.Ser1481Gly)
|
rs61730054
|
0.00113
|
NM_001065.4(TNFRSF1A):c.935G>A (p.Arg312Lys)
|
rs200900510
|
0.00113
|
NM_001352005.2(NTM):c.1004C>T (p.Ser335Leu)
|
rs139579932
|
0.00113
|
NM_022168.4(IFIH1):c.2863C>G (p.Gln955Glu)
|
rs144455277
|
0.00113
|
NM_030777.4(SLC2A10):c.630C>T (p.Gly210=)
|
rs142431229
|
0.00113
|
NM_207122.2(EXT2):c.1178G>A (p.Arg393Gln)
|
rs138187791
|
0.00113
|
NM_212482.4(FN1):c.2130C>T (p.Thr710=)
|
rs140116931
|
0.00113
|
NM_080680.3(COL11A2):c.1612-10G>C
|
rs182657680
|
0.00112
|
NM_002661.5(PLCG2):c.1671G>A (p.Lys557=)
|
rs372347274
|
0.00111
|
NM_022168.4(IFIH1):c.1046A>G (p.Lys349Arg)
|
rs72650664
|
0.00111
|
NM_001852.4(COL9A2):c.1041C>T (p.Gly347=)
|
rs138882727
|
0.00110
|
NM_001999.4(FBN2):c.110C>A (p.Pro37Gln)
|
rs201255083
|
0.00110
|
NM_080680.3(COL11A2):c.3576C>T (p.Gly1192=)
|
rs138380958
|
0.00110
|
NM_000138.5(FBN1):c.6681A>C (p.Ser2227=)
|
rs363824
|
0.00109
|
NM_000393.5(COL5A2):c.261G>A (p.Thr87=)
|
rs142044596
|
0.00108
|
NM_001171.6(ABCC6):c.1432-9C>T
|
rs201633047
|
0.00108
|
NM_021625.5(TRPV4):c.1308C>T (p.Ile436=)
|
rs141244183
|
0.00108
|
NM_130384.3(ATRIP):c.*665C>T
|
rs548710061
|
0.00108
|
NM_000138.5(FBN1):c.2956G>A (p.Ala986Thr)
|
rs112287730
|
0.00107
|
NM_000093.5(COL5A1):c.924+13C>T
|
rs199836060
|
0.00106
|
NM_000138.5(FBN1):c.*2045G>A
|
rs372254135
|
0.00106
|
NM_000302.4(PLOD1):c.564G>C (p.Leu188Phe)
|
rs201888323
|
0.00106
|
NM_001375808.2(LPIN2):c.*850G>A
|
rs73375250
|
0.00106
|
NM_005529.7(HSPG2):c.13018G>A (p.Val4340Met)
|
rs145687082
|
0.00106
|
NM_053025.4(MYLK):c.1007C>T (p.Pro336Leu)
|
rs35912339
|
0.00106
|
NM_212482.4(FN1):c.416-17C>T
|
rs142394008
|
0.00106
|
NM_000302.4(PLOD1):c.137G>A (p.Arg46His)
|
rs142710681
|
0.00105
|
NM_001844.5(COL2A1):c.709-8G>T
|
rs200757693
|
0.00105
|
NM_001366385.1(CARD14):c.449T>G (p.Leu150Arg)
|
rs146214639
|
0.00104
|
NM_001370466.1(NOD2):c.1211C>T (p.Ser404Leu)
|
rs104895431
|
0.00103
|
NM_004239.4(TRIP11):c.5010T>C (p.Ala1670=)
|
rs149334552
|
0.00103
|
NM_080680.3(COL11A2):c.5000G>A (p.Arg1667His)
|
rs146555195
|
0.00103
|
NM_001999.4(FBN2):c.6655A>G (p.Ile2219Val)
|
rs140821039
|
0.00102
|
NM_144687.4(NLRP12):c.2386del (p.His796fs)
|
rs539741111
|
0.00102
|
NM_001111.5(ADAR):c.1935-19G>A
|
rs200651742
|
0.00101
|
NM_001122681.2(SH3BP2):c.*5352T>C
|
rs76357988
|
0.00101
|
NM_001171.6(ABCC6):c.600+23C>T
|
rs72664290
|
0.00101
|
NM_005529.7(HSPG2):c.4488G>A (p.Thr1496=)
|
rs372318754
|
0.00101
|
NM_001999.4(FBN2):c.3767A>G (p.Gln1256Arg)
|
rs139052603
|
0.00100
|
NM_003239.5(TGFB3):c.164G>A (p.Ser55Asn)
|
rs143229915
|
0.00100
|
NM_030777.4(SLC2A10):c.515C>T (p.Thr172Ile)
|
rs143301610
|
0.00100
|
NM_033360.4(KRAS):c.5-18A>G
|
rs200189105
|
0.00100
|
NM_198253.3(TERT):c.572G>C (p.Ser191Thr)
|
rs11952056
|
0.00100
|
NM_001854.4(COL11A1):c.3925-16C>T
|
rs201491791
|
0.00099
|
NM_212482.4(FN1):c.547+19T>C
|
rs183120644
|
0.00099
|
NM_001032283.3(TMPO):c.565+2224A>G
|
rs34983516
|
0.00098
|
NM_001171.6(ABCC6):c.2695C>T (p.Arg899Cys)
|
rs11861980
|
0.00098
|
NM_021625.5(TRPV4):c.854-4G>A
|
rs371733585
|
0.00098
|
NM_024408.4(NOTCH2):c.1108+14G>A
|
rs377649578
|
0.00098
|
NM_006258.4(PRKG1):c.1071A>G (p.Lys357=)
|
rs75650199
|
0.00097
|
NM_001611.5(ACP5):c.299G>A (p.Arg100His)
|
rs141651325
|
0.00096
|
NM_002834.5(PTPN11):c.526-17T>C
|
rs375184329
|
0.00096
|
NM_199242.3(UNC13D):c.24G>A (p.Pro8=)
|
rs143320460
|
0.00095
|
NM_000093.5(COL5A1):c.61C>T (p.Pro21Ser)
|
rs548525119
|
0.00094
|
NM_001171.6(ABCC6):c.2659C>T (p.Arg887Cys)
|
rs59206042
|
0.00094
|
NM_002661.5(PLCG2):c.432-3C>T
|
rs147749022
|
0.00094
|
NM_024529.5(CDC73):c.33C>T (p.Tyr11=)
|
rs150951102
|
0.00094
|
NM_024570.4(RNASEH2B):c.-117C>G
|
rs553446261
|
0.00094
|
NM_212482.4(FN1):c.1002G>A (p.Thr334=)
|
rs138271073
|
0.00094
|
NM_001171.6(ABCC6):c.1059C>T (p.Ala353=)
|
rs150016641
|
0.00093
|
NM_017617.5(NOTCH1):c.2049G>A (p.Ala683=)
|
rs61751553
|
0.00093
|
NM_001122681.2(SH3BP2):c.*2513_*2518del
|
rs533765500
|
0.00092
|
NM_001370466.1(NOD2):c.-8-7T>A
|
rs104895421
|
0.00092
|
NM_001558.4(IL10RA):c.810+10G>A
|
rs12290349
|
0.00092
|
NM_003239.5(TGFB3):c.293C>T (p.Ser98Leu)
|
rs142047577
|
0.00092
|
NM_004612.4(TGFBR1):c.*4623G>C
|
rs200806851
|
0.00092
|
NM_017617.5(NOTCH1):c.1862G>A (p.Arg621His)
|
rs138504021
|
0.00092
|
NM_212482.4(FN1):c.1110G>A (p.Thr370=)
|
rs149123808
|
0.00092
|
NM_000138.5(FBN1):c.783T>C (p.Asn261=)
|
rs113721547
|
0.00091
|
NM_000435.3(NOTCH3):c.660C>T (p.Tyr220=)
|
rs114457076
|
0.00091
|
NM_001282225.2(ADA2):c.783C>T (p.Asp261=)
|
rs150249309
|
0.00091
|
NM_003238.6(TGFB2):c.*1233T>A
|
rs555872587
|
0.00091
|
NM_001370466.1(NOD2):c.552C>T (p.Ala184=)
|
rs5743269
|
0.00090
|
NM_004371.4(COPA):c.2483G>A (p.Gly828Glu)
|
rs144241395
|
0.00090
|
NM_199242.3(UNC13D):c.99G>A (p.Pro33=)
|
rs147886860
|
0.00090
|
NM_000138.5(FBN1):c.6987C>G (p.Asp2329Glu)
|
rs363831
|
0.00089
|
NM_001171.6(ABCC6):c.2306G>A (p.Arg769Lys)
|
rs57794451
|
0.00089
|
NM_001243133.2(NLRP3):c.789C>T (p.Ser263=)
|
rs146442638
|
0.00089
|
NM_001844.5(COL2A1):c.2095-4G>A
|
rs111570218
|
0.00089
|
NM_001853.4(COL9A3):c.1918G>A (p.Glu640Lys)
|
rs553583384
|
0.00089
|
NM_000038.6(APC):c.6821C>T (p.Ala2274Val)
|
rs34919187
|
0.00088
|
NM_001854.4(COL11A1):c.328G>C (p.Gly110Arg)
|
rs141978499
|
0.00088
|
NM_003978.5(PSTPIP1):c.418-20A>G
|
rs545542379
|
0.00088
|
NM_005902.4(SMAD3):c.*654A>G
|
rs571689385
|
0.00088
|
NM_053025.4(MYLK):c.3832-6C>T
|
rs185681684
|
0.00088
|
NM_000088.4(COL1A1):c.4181A>G (p.Asn1394Ser)
|
rs147266928
|
0.00087
|
NM_001171.6(ABCC6):c.2904G>A (p.Leu968=)
|
rs72664287
|
0.00087
|
NM_003238.6(TGFB2):c.114G>A (p.Glu38=)
|
rs149215818
|
0.00087
|
NM_000081.4(LYST):c.2769A>C (p.Ser923=)
|
rs112739986
|
0.00086
|
NM_000081.4(LYST):c.8027G>T (p.Ser2676Ile)
|
rs113209379
|
0.00086
|
NM_000302.4(PLOD1):c.843+17G>C
|
rs201244598
|
0.00086
|
NM_000388.4(CASR):c.1631G>A (p.Arg544Gln)
|
rs115230894
|
0.00086
|
NM_001171.6(ABCC6):c.1353C>T (p.Ser451=)
|
rs57546826
|
0.00086
|
NM_001370466.1(NOD2):c.1707G>A (p.Thr569=)
|
rs104895437
|
0.00086
|
NM_001844.5(COL2A1):c.507C>T (p.Pro169=)
|
rs143851987
|
0.00086
|
NM_002381.5(MATN3):c.945C>T (p.His315=)
|
rs77146641
|
0.00086
|
NM_002661.5(PLCG2):c.1449G>A (p.Met483Ile)
|
rs201746780
|
0.00086
|
NM_005902.4(SMAD3):c.*1805T>C
|
rs191114875
|
0.00086
|
NM_003183.6(ADAM17):c.1471C>T (p.Pro491Ser)
|
rs55937573
|
0.00085
|
NM_024408.4(NOTCH2):c.4897G>A (p.Val1633Ile)
|
rs116321057
|
0.00085
|
NM_001243133.2(NLRP3):c.2151-7T>C
|
rs116546330
|
0.00084
|
NM_001243133.2(NLRP3):c.2488C>A (p.Leu830Ile)
|
rs114158404
|
0.00083
|
NM_001375808.2(LPIN2):c.1159A>G (p.Lys387Glu)
|
rs104895501
|
0.00083
|
NM_001375808.2(LPIN2):c.1876C>T (p.Pro626Ser)
|
rs150806357
|
0.00083
|
NM_003036.4(SKI):c.216C>T (p.Pro72=)
|
rs756778048
|
0.00083
|
NM_005902.4(SMAD3):c.*2242A>G
|
rs117707762
|
0.00083
|
NM_003978.5(PSTPIP1):c.1134G>A (p.Leu378=)
|
rs529402949
|
0.00082
|
NM_005373.3(MPL):c.1120A>G (p.Thr374Ala)
|
rs190983971
|
0.00082
|
NM_000095.3(COMP):c.2152C>A (p.Arg718=)
|
rs28936368
|
0.00081
|
NM_001110556.2(FLNA):c.4451A>G (p.Gln1484Arg)
|
rs200130356
|
0.00081
|
NM_001999.4(FBN2):c.2427T>A (p.Ile809=)
|
rs139686090
|
0.00081
|
NM_000316.3(PTH1R):c.1305G>A (p.Thr435=)
|
rs142921504
|
0.00080
|
NM_001110556.2(FLNA):c.3805+16G>A
|
rs201016252
|
0.00080
|
NM_001367624.2(ZNF469):c.2035G>A (p.Glu679Lys)
|
rs551591362
|
0.00080
|
NM_006397.3(RNASEH2A):c.758T>C (p.Ile253Thr)
|
rs145662304
|
0.00080
|
NM_212482.4(FN1):c.1626C>T (p.Asn542=)
|
rs138144264
|
0.00080
|
NM_017617.5(NOTCH1):c.2080G>A (p.Glu694Lys)
|
rs79782048
|
0.00079
|
NM_022168.4(IFIH1):c.478A>G (p.Asn160Asp)
|
rs74162075
|
0.00079
|
NM_207122.2(EXT2):c.1588G>A (p.Glu530Lys)
|
rs148711133
|
0.00079
|
NM_000138.5(FBN1):c.6700G>A (p.Val2234Met)
|
rs112084407
|
0.00078
|
NM_001084.5(PLOD3):c.1678G>C (p.Glu560Gln)
|
rs140879834
|
0.00078
|
NM_006397.3(RNASEH2A):c.684C>T (p.Phe228=)
|
rs147131347
|
0.00078
|
NM_015139.3(SLC35D1):c.814G>A (p.Ala272Thr)
|
rs143218310
|
0.00078
|
NM_022124.6(CDH23):c.2263C>T (p.His755Tyr)
|
rs181255269
|
0.00078
|
NM_022168.4(IFIH1):c.1066C>A (p.Pro356Thr)
|
rs150317197
|
0.00078
|
NM_000089.4(COL1A2):c.2123G>A (p.Arg708Gln)
|
rs72658163
|
0.00077
|
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_030777.4(SLC2A10):c.816C>G (p.Ala272=)
|
rs148058006
|
0.00077
|
NM_212482.4(FN1):c.1547-6A>G
|
rs3213885
|
0.00077
|
NM_000138.5(FBN1):c.510C>T (p.Tyr170=)
|
rs111671429
|
0.00076
|
NM_000243.3(MEFV):c.1382G>A (p.Arg461Gln)
|
rs145637617
|
0.00076
|
NM_000302.4(PLOD1):c.776G>A (p.Arg259His)
|
rs144226170
|
0.00076
|
NM_001370466.1(NOD2):c.2474A>G (p.Asn825Ser)
|
rs104895467
|
0.00076
|
NM_001370466.1(NOD2):c.293C>T (p.Pro98Leu)
|
rs149390911
|
0.00076
|
NM_001999.4(FBN2):c.4647C>T (p.Asn1549=)
|
rs146662880
|
0.00076
|
NM_003239.5(TGFB3):c.646+13T>C
|
rs780891440
|
0.00076
|
NM_022168.4(IFIH1):c.2524G>A (p.Glu842Lys)
|
rs79324540
|
0.00076
|
NM_207122.2(EXT2):c.965G>A (p.Arg322His)
|
rs149727518
|
0.00076
|
NM_003183.6(ADAM17):c.435C>G (p.Ala145=)
|
rs143124556
|
0.00075
|
NM_003242.6(TGFBR2):c.1458C>T (p.Ser486=)
|
rs139881155
|
0.00075
|
NM_006397.3(RNASEH2A):c.328A>C (p.Lys110Gln)
|
rs143029477
|
0.00075
|
NM_000081.4(LYST):c.7229+3A>G
|
rs529306869
|
0.00074
|
NM_001199138.2(NLRC4):c.1248G>A (p.Val416=)
|
rs377140938
|
0.00074
|
NM_001999.4(FBN2):c.2684A>G (p.Lys895Arg)
|
rs143565958
|
0.00074
|
NM_002661.5(PLCG2):c.3671G>A (p.Arg1224His)
|
rs370547009
|
0.00074
|
NM_148919.4(PSMB8):c.*8G>A
|
rs376750959
|
0.00074
|
NM_001171.6(ABCC6):c.1636-20G>A
|
rs200894424
|
0.00073
|
NM_001370466.1(NOD2):c.2506A>G (p.Met836Val)
|
rs104895447
|
0.00073
|
NM_001844.5(COL2A1):c.1913C>T (p.Thr638Ile)
|
rs41263847
|
0.00073
|
NM_002661.5(PLCG2):c.1342C>T (p.Arg448Trp)
|
rs200919414
|
0.00073
|
NM_033629.6(TREX1):c.720G>C (p.Arg240Ser)
|
rs72556555
|
0.00073
|
NM_173842.3(IL1RN):c.237T>C (p.His79=)
|
rs140088036
|
0.00073
|
NM_001122681.2(SH3BP2):c.1686A>G (p.Ter562Trp)
|
rs190648042
|
0.00072
|
NM_003238.6(TGFB2):c.303G>A (p.Lys101=)
|
rs147052890
|
0.00072
|
NM_016592.5(GNAS):c.537G>A (p.Pro179=)
|
rs181594534
|
0.00072
|
NM_000243.3(MEFV):c.277+6C>T
|
rs7199464
|
0.00071
|
NM_001110556.2(FLNA):c.1191C>T (p.Ile397=)
|
rs200048692
|
0.00071
|
NM_003183.6(ADAM17):c.178C>A (p.Leu60Ile)
|
rs112594248
|
0.00071
|
NM_024529.5(CDC73):c.*3524A>G
|
rs548190260
|
0.00071
|
NM_030777.4(SLC2A10):c.1010G>C (p.Gly337Ala)
|
rs150745395
|
0.00071
|
NM_148919.4(PSMB8):c.701A>G (p.Tyr234Cys)
|
rs55853041
|
0.00071
|
NM_000138.5(FBN1):c.8176C>T (p.Arg2726Trp)
|
rs61746008
|
0.00070
|
NM_000393.5(COL5A2):c.3364-17C>T
|
rs201720941
|
0.00070
|
NM_001122681.2(SH3BP2):c.*1582C>T
|
rs191233292
|
0.00070
|
NM_001243133.2(NLRP3):c.1463G>A (p.Arg488Lys)
|
rs145268073
|
0.00070
|
NM_012275.3(IL36RN):c.363G>A (p.Leu121=)
|
rs151274071
|
0.00070
|
NM_024529.5(CDC73):c.1032T>G (p.Val344=)
|
rs148612206
|
0.00070
|
NM_001065.4(TNFRSF1A):c.789T>C (p.Thr263=)
|
rs201290189
|
0.00069
|
NM_001110556.2(FLNA):c.5251C>T (p.Pro1751Ser)
|
rs56102764
|
0.00069
|
NM_002609.4(PDGFRB):c.1504C>T (p.Arg502Trp)
|
rs142992960
|
0.00069
|
NM_002661.5(PLCG2):c.1309A>G (p.Ser437Gly)
|
rs200137340
|
0.00069
|
NM_144687.4(NLRP12):c.2579C>G (p.Thr860Ser)
|
rs150671525
|
0.00069
|
NM_001032283.3(TMPO):c.350A>G (p.Asn117Ser)
|
rs141387097
|
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_001370466.1(NOD2):c.379G>A (p.Asp127Asn)
|
rs146054564
|
0.00068
|
NM_001999.4(FBN2):c.436+16G>A
|
rs372098570
|
0.00068
|
NM_004612.4(TGFBR1):c.*1804A>G
|
rs200656974
|
0.00068
|
NM_017617.5(NOTCH1):c.1389C>T (p.Asn463=)
|
rs61733293
|
0.00068
|
NM_000127.3(EXT1):c.1359C>T (p.Phe453=)
|
rs148922894
|
0.00067
|
NM_000138.5(FBN1):c.3077T>C (p.Phe1026Ser)
|
rs200381100
|
0.00067
|
NM_001844.5(COL2A1):c.3384C>T (p.Gly1128=)
|
rs145884117
|
0.00067
|
NM_002661.5(PLCG2):c.3112C>T (p.Leu1038=)
|
rs200813182
|
0.00067
|
NM_006397.3(RNASEH2A):c.417C>T (p.Phe139=)
|
rs201413125
|
0.00067
|
NM_024408.4(NOTCH2):c.2830G>T (p.Asp944Tyr)
|
rs151130105
|
0.00067
|
NM_032193.4(RNASEH2C):c.*295C>T
|
rs538167829
|
0.00067
|
NM_000088.4(COL1A1):c.3099+7T>C
|
rs201682029
|
0.00066
|
NM_000243.3(MEFV):c.2149C>T (p.Arg717Cys)
|
rs104895192
|
0.00066
|
NM_001375808.2(LPIN2):c.1815G>A (p.Ser605=)
|
rs143702044
|
0.00066
|
NM_002451.3(MTAP):c.-117T>C
|
rs545625466
|
0.00066
|
NM_003239.5(TGFB3):c.179C>T (p.Thr60Met)
|
rs4252315
|
0.00066
|
NM_005475.3(SH2B3):c.622G>C (p.Glu208Gln)
|
rs202080221
|
0.00066
|
NM_024408.4(NOTCH2):c.2752+17G>C
|
rs370708756
|
0.00066
|
NM_000628.5(IL10RB):c.646+19C>A
|
rs75303005
|
0.00065
|
NM_001366385.1(CARD14):c.960G>A (p.Glu320=)
|
rs144207494
|
0.00065
|
NM_003036.4(SKI):c.1593T>C (p.Pro531=)
|
rs144279718
|
0.00065
|
NM_003242.6(TGFBR2):c.*443A>G
|
rs188599299
|
0.00065
|
NM_003977.4(AIP):c.896C>T (p.Ala299Val)
|
rs148986773
|
0.00065
|
NM_030777.4(SLC2A10):c.765C>T (p.Ser255=)
|
rs142106322
|
0.00065
|
NM_000088.4(COL1A1):c.4018G>A (p.Gly1340Ser)
|
rs147936946
|
0.00064
|
NM_000138.5(FBN1):c.*779C>T
|
rs113200355
|
0.00064
|
NM_000302.4(PLOD1):c.804C>T (p.Thr268=)
|
rs140758113
|
0.00064
|
NM_001032283.3(TMPO):c.565+2149C>T
|
rs34150443
|
0.00064
|
NM_004371.4(COPA):c.763G>A (p.Ala255Thr)
|
rs138359166
|
0.00064
|
NM_000243.3(MEFV):c.932C>T (p.Ala311Val)
|
rs74346519
|
0.00063
|
NM_024408.4(NOTCH2):c.2981+11A>G
|
rs148899572
|
0.00063
|
NM_024570.4(RNASEH2B):c.455A>G (p.Asn152Ser)
|
rs146451037
|
0.00063
|
NM_207122.2(EXT2):c.1760C>T (p.Thr587Met)
|
rs138495222
|
0.00063
|
NM_212482.4(FN1):c.1023C>T (p.Ser341=)
|
rs138120768
|
0.00063
|
NM_001844.5(COL2A1):c.3723C>T (p.Ala1241=)
|
rs200993187
|
0.00062
|
NM_001852.4(COL9A2):c.-43G>A
|
rs373454857
|
0.00062
|
NM_003238.6(TGFB2):c.823A>G (p.Ser275Gly)
|
rs139825195
|
0.00062
|
NM_000393.5(COL5A2):c.3471+8A>T
|
rs367643805
|
0.00061
|
NM_001122681.2(SH3BP2):c.239G>A (p.Arg80Gln)
|
rs147432096
|
0.00061
|
NM_001122681.2(SH3BP2):c.441G>A (p.Ser147=)
|
rs145235325
|
0.00061
|
NM_001199138.2(NLRC4):c.2256G>A (p.Pro752=)
|
rs139310294
|
0.00061
|
NM_001243133.2(NLRP3):c.1639A>T (p.Ser547Cys)
|
rs139833874
|
0.00061
|
NM_001558.4(IL10RA):c.-70C>T
|
rs185159635
|
0.00061
|
NM_001854.4(COL11A1):c.4032G>A (p.Pro1344=)
|
rs147637674
|
0.00061
|
NM_002661.5(PLCG2):c.2393A>G (p.Asn798Ser)
|
rs117077093
|
0.00061
|
NM_017617.5(NOTCH1):c.4168C>A (p.Pro1390Thr)
|
rs191645600
|
0.00061
|
NM_030777.4(SLC2A10):c.1415C>T (p.Thr472Ile)
|
rs563376340
|
0.00061
|
NM_000089.4(COL1A2):c.304C>T (p.Pro102Ser)
|
rs189557655
|
0.00060
|
NM_001110556.2(FLNA):c.3876C>T (p.His1292=)
|
rs199917719
|
0.00060
|
NM_001844.5(COL2A1):c.3786C>G (p.Leu1262=)
|
rs139114389
|
0.00060
|
NM_006949.4(STXBP2):c.165C>T (p.Ile55=)
|
rs11538945
|
0.00060
|
NM_000431.4(MVK):c.441C>T (p.Ala147=)
|
rs138342076
|
0.00059
|
NM_000093.5(COL5A1):c.341C>A (p.Ala114Asp)
|
rs147589613
|
0.00058
|
NM_000093.5(COL5A1):c.996C>T (p.Asp332=)
|
rs144763302
|
0.00058
|
NM_000127.3(EXT1):c.1782G>A (p.Ala594=)
|
rs61753261
|
0.00058
|
NM_001375808.2(LPIN2):c.*158G>A
|
rs547872442
|
0.00058
|
NM_001558.4(IL10RA):c.320G>A (p.Arg107Gln)
|
rs145949718
|
0.00058
|
NM_001844.5(COL2A1):c.1287T>C (p.Gly429=)
|
rs35012272
|
0.00058
|
NM_002661.5(PLCG2):c.77C>T (p.Thr26Met)
|
rs189301790
|
0.00058
|
NM_003242.6(TGFBR2):c.*1682A>G
|
rs17026341
|
0.00058
|
NM_017617.5(NOTCH1):c.4917C>T (p.Ala1639=)
|
rs371365065
|
0.00058
|
NM_000302.4(PLOD1):c.1927G>A (p.Val643Ile)
|
rs149425237
|
0.00057
|
NM_001110556.2(FLNA):c.7756+8A>G
|
rs201663443
|
0.00057
|
NM_001122681.2(SH3BP2):c.643C>A (p.Pro215Thr)
|
rs139934973
|
0.00057
|
NM_001243133.2(NLRP3):c.2301C>G (p.Gly767=)
|
rs150229101
|
0.00057
|
NM_001370466.1(NOD2):c.1330C>T (p.Arg444Cys)
|
rs1078327
|
0.00057
|
NM_001375808.2(LPIN2):c.2583C>T (p.Phe861=)
|
rs141043192
|
0.00057
|
NM_002474.3(MYH11):c.12G>A (p.Lys4=)
|
rs112650390
|
0.00057
|
NM_015922.3(NSDHL):c.834C>T (p.Phe278=)
|
rs149698967
|
0.00057
|
NM_017617.5(NOTCH1):c.6291G>A (p.Pro2097=)
|
rs201987555
|
0.00057
|
NM_052989.3(IFT122):c.3487T>A (p.Phe1163Ile)
|
rs200606803
|
0.00057
|
NM_000038.6(APC):c.4336G>A (p.Ala1446Thr)
|
rs146572883
|
0.00056
|
NM_000127.3(EXT1):c.1779C>T (p.Pro593=)
|
rs143881630
|
0.00056
|
NM_001199138.2(NLRC4):c.2727C>T (p.Leu909=)
|
rs147980356
|
0.00056
|
NM_001370466.1(NOD2):c.-8-2174C>T
|
rs149122717
|
0.00056
|
NM_001375808.2(LPIN2):c.*151G>A
|
rs571000282
|
0.00056
|
NM_001375808.2(LPIN2):c.*2103G>A
|
rs561577089
|
0.00056
|
NM_001844.5(COL2A1):c.195C>T (p.Asp65=)
|
rs202210896
|
0.00056
|
NM_002474.3(MYH11):c.429G>A (p.Lys143=)
|
rs200672270
|
0.00056
|
NM_003036.4(SKI):c.1528G>A (p.Ala510Thr)
|
rs61735580
|
0.00056
|
NM_003242.6(TGFBR2):c.*848C>T
|
rs17026336
|
0.00056
|
NM_003243.5(TGFBR3):c.935T>C (p.Met312Thr)
|
rs149079126
|
0.00056
|
NM_005373.3(MPL):c.1488C>T (p.Thr496=)
|
rs140091584
|
0.00056
|
NM_005529.7(HSPG2):c.12786C>T (p.Leu4262=)
|
rs141936971
|
0.00056
|
NM_017617.5(NOTCH1):c.311A>G (p.Asn104Ser)
|
rs199654211
|
0.00056
|
NM_024408.4(NOTCH2):c.6766C>T (p.Arg2256Cys)
|
rs147522485
|
0.00056
|
NM_031229.4(RBCK1):c.1030-4G>A
|
rs149038161
|
0.00056
|
NM_144687.4(NLRP12):c.2309A>C (p.Lys770Thr)
|
rs138493915
|
0.00056
|
NM_198253.3(TERT):c.1836C>G (p.Ala612=)
|
rs34170122
|
0.00056
|
NM_001370466.1(NOD2):c.2057G>A (p.Arg686His)
|
rs104895483
|
0.00055
|
NM_001844.5(COL2A1):c.1366-13C>A
|
rs200984998
|
0.00055
|
NM_002661.5(PLCG2):c.57G>A (p.Lys19=)
|
rs369542354
|
0.00055
|
NM_003977.4(AIP):c.807C>T (p.Phe269=)
|
rs139407567
|
0.00055
|
NM_005373.3(MPL):c.1570C>T (p.Leu524=)
|
rs146372205
|
0.00055
|
NM_053025.4(MYLK):c.3898G>A (p.Ala1300Thr)
|
rs149530842
|
0.00055
|
NM_173842.3(IL1RN):c.69G>A (p.Thr23=)
|
rs2232353
|
0.00055
|
NM_000038.6(APC):c.2476T>G (p.Leu826Val)
|
rs145245264
|
0.00054
|
NM_000090.4(COL3A1):c.114C>G (p.Ser38=)
|
rs141241764
|
0.00054
|
NM_000138.5(FBN1):c.3422C>T (p.Pro1141Leu)
|
rs2228241
|
0.00054
|
NM_001065.4(TNFRSF1A):c.769-3C>T
|
rs199743143
|
0.00054
|
NM_001122681.2(SH3BP2):c.1549-12C>A
|
rs202005559
|
0.00054
|
NM_001852.4(COL9A2):c.304-14C>T
|
rs180908956
|
0.00054
|
NM_003238.6(TGFB2):c.357G>A (p.Pro119=)
|
rs138514914
|
0.00054
|
NM_004239.4(TRIP11):c.214A>G (p.Lys72Glu)
|
rs548721041
|
0.00054
|
NM_012275.3(IL36RN):c.*281G>A
|
rs80220660
|
0.00054
|
NM_022168.4(IFIH1):c.1965T>A (p.Asp655Glu)
|
rs144274375
|
0.00054
|
NM_080680.3(COL11A2):c.688G>T (p.Gly230Trp)
|
rs141430703
|
0.00054
|
NM_212482.4(FN1):c.2829C>T (p.Pro943=)
|
rs112901124
|
0.00054
|
NM_000138.5(FBN1):c.4683C>T (p.Ser1561=)
|
rs148024160
|
0.00053
|
NM_001111.5(ADAR):c.1125C>T (p.Thr375=)
|
rs145166589
|
0.00053
|
NM_002474.3(MYH11):c.3031T>C (p.Leu1011=)
|
rs112861184
|
0.00053
|
NM_004364.5(CEBPA):c.729C>A (p.Ala243=)
|
rs1248693843
|
0.00053
|
NM_017617.5(NOTCH1):c.2136C>A (p.Thr712=)
|
rs369346436
|
0.00053
|
NM_021625.5(TRPV4):c.2304G>C (p.Ser768=)
|
rs138986228
|
0.00053
|
NM_000302.4(PLOD1):c.1473T>C (p.Asp491=)
|
rs139165192
|
0.00052
|
NM_000302.4(PLOD1):c.1584+17C>T
|
rs200962113
|
0.00052
|
NM_001042492.3(NF1):c.7461A>G (p.Thr2487=)
|
rs149924365
|
0.00052
|
NM_001367624.2(ZNF469):c.9555C>G (p.Ala3185=)
|
rs273585636
|
0.00052
|
NM_005902.4(SMAD3):c.*1325T>C
|
rs139620908
|
0.00052
|
NM_005902.4(SMAD3):c.*2444A>G
|
rs145102966
|
0.00052
|
NM_005902.4(SMAD3):c.*2995G>A
|
rs140694679
|
0.00052
|
NM_005902.4(SMAD3):c.*318G>A
|
rs79368607
|
0.00052
|
NM_006258.4(PRKG1):c.1963-16T>G
|
rs376174664
|
0.00052
|
NM_024408.4(NOTCH2):c.1567+8C>T
|
rs372367275
|
0.00052
|
NM_080680.3(COL11A2):c.4799G>A (p.Arg1600Gln)
|
rs1799912
|
0.00052
|
NM_000388.4(CASR):c.915C>A (p.Ile305=)
|
rs200528343
|
0.00051
|
NM_001243133.2(NLRP3):c.2855C>T (p.Thr952Met)
|
rs139814109
|
0.00051
|
NM_001282225.2(ADA2):c.1386T>C (p.Ile462=)
|
rs373797039
|
0.00051
|
NM_001370466.1(NOD2):c.2672C>A (p.Ala891Asp)
|
rs104895452
|
0.00051
|
NM_001370466.1(NOD2):c.486G>A (p.Thr162=)
|
rs144887729
|
0.00051
|
NM_001370466.1(NOD2):c.850C>T (p.Arg284Trp)
|
rs104895427
|
0.00051
|
NM_001375808.2(LPIN2):c.1043C>T (p.Pro348Leu)
|
rs34676691
|
0.00051
|
NM_001844.5(COL2A1):c.*28C>T
|
rs41272775
|
0.00051
|
NM_002474.3(MYH11):c.4240G>A (p.Ala1414Thr)
|
rs112467954
|
0.00051
|
NM_015922.3(NSDHL):c.65C>T (p.Thr22Ile)
|
rs375100066
|
0.00051
|
NM_024408.4(NOTCH2):c.7140G>C (p.Val2380=)
|
rs150785478
|
0.00051
|
NM_212482.4(FN1):c.6336T>C (p.Pro2112=)
|
rs148278567
|
0.00051
|
NM_001065.4(TNFRSF1A):c.1075C>T (p.Leu359=)
|
rs151344628
|
0.00050
|
NM_024408.4(NOTCH2):c.3235G>A (p.Val1079Ile)
|
rs368918146
|
0.00050
|
NM_024408.4(NOTCH2):c.6363G>C (p.Lys2121Asn)
|
rs144047610
|
0.00050
|
NM_000047.3(ARSL):c.1189G>A (p.Gly397Arg)
|
rs201424543
|
0.00049
|
NM_000138.5(FBN1):c.7346A>G (p.Asn2449Ser)
|
rs146166400
|
0.00049
|
NM_001171.6(ABCC6):c.1540G>A (p.Val514Ile)
|
rs59157279
|
0.00049
|
NM_001199138.2(NLRC4):c.298G>A (p.Asp100Asn)
|
rs149157799
|
0.00049
|
NM_001243133.2(NLRP3):c.2176A>G (p.Ser726Gly)
|
rs147946775
|
0.00049
|
NM_001999.4(FBN2):c.5674+7A>G
|
rs367877964
|
0.00049
|
NM_001999.4(FBN2):c.8537G>A (p.Arg2846His)
|
rs200345491
|
0.00049
|
NM_003978.5(PSTPIP1):c.1213C>T (p.Arg405Cys)
|
rs201253322
|
0.00049
|
NM_005373.3(MPL):c.1336G>A (p.Gly446Arg)
|
rs561818288
|
0.00049
|
NM_022168.4(IFIH1):c.1583T>G (p.Leu528Arg)
|
rs142348767
|
0.00049
|
NM_031229.4(RBCK1):c.654G>A (p.Arg218=)
|
rs149541936
|
0.00049
|
NM_212482.4(FN1):c.117C>G (p.Pro39=)
|
rs148348956
|
0.00049
|
NM_212482.4(FN1):c.5623-13C>G
|
rs192981567
|
0.00049
|
NM_001111.5(ADAR):c.518A>G (p.Asn173Ser)
|
rs201331183
|
0.00048
|
NM_001243133.2(NLRP3):c.203T>C (p.Met68Thr)
|
rs147559626
|
0.00048
|
NM_001370466.1(NOD2):c.193G>A (p.Val65Ile)
|
rs187264529
|
0.00048
|
NM_001457.4(FLNB):c.6173A>G (p.Lys2058Arg)
|
rs141698427
|
0.00048
|
NM_002661.5(PLCG2):c.110C>A (p.Thr37Asn)
|
rs147349332
|
0.00048
|
NM_002834.5(PTPN11):c.1658C>T (p.Thr553Met)
|
rs148176616
|
0.00048
|
NM_004972.4(JAK2):c.380G>A (p.Gly127Asp)
|
rs56118985
|
0.00048
|
NM_005188.4(CBL):c.1227+4C>T
|
rs201747825
|
0.00048
|
NM_006397.3(RNASEH2A):c.199+9G>C
|
rs370775997
|
0.00048
|
NM_020800.3(IFT80):c.937A>G (p.Thr313Ala)
|
rs146065418
|
0.00048
|
NM_022124.6(CDH23):c.832+8A>G
|
rs56129333
|
0.00048
|
NM_053025.4(MYLK):c.1474G>A (p.Ala492Thr)
|
rs143010767
|
0.00048
|
NM_144687.4(NLRP12):c.952C>G (p.Arg318Gly)
|
rs140585311
|
0.00048
|
NM_207122.2(EXT2):c.1534G>T (p.Val512Leu)
|
rs147753803
|
0.00048
|
NM_000093.5(COL5A1):c.3906+20G>A
|
rs148053413
|
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_001999.4(FBN2):c.6841A>T (p.Ile2281Phe)
|
rs115223340
|
0.00047
|
NM_002834.5(PTPN11):c.1379+20C>T
|
rs184743462
|
0.00047
|
NM_003238.6(TGFB2):c.356C>T (p.Pro119Leu)
|
rs149533093
|
0.00047
|
NM_031229.4(RBCK1):c.782A>G (p.Asn261Ser)
|
rs377605009
|
0.00047
|
NM_001110556.2(FLNA):c.1579C>T (p.Arg527Cys)
|
rs202029322
|
0.00046
|
NM_001110556.2(FLNA):c.7267C>T (p.Pro2423Ser)
|
rs200198847
|
0.00046
|
NM_001370466.1(NOD2):c.3013G>A (p.Gly1005Ser)
|
rs147874812
|
0.00046
|
NM_001844.5(COL2A1):c.3736G>A (p.Gly1246Ser)
|
rs147569641
|
0.00046
|
NM_001852.4(COL9A2):c.927T>G (p.Asp309Glu)
|
rs200290031
|
0.00046
|
NM_001853.4(COL9A3):c.873C>T (p.Pro291=)
|
rs201808719
|
0.00046
|
NM_001999.4(FBN2):c.7380C>T (p.Cys2460=)
|
rs147102633
|
0.00046
|
NM_003036.4(SKI):c.1734C>T (p.Ser578=)
|
rs117443908
|
0.00046
|
NM_022162.2(NOD2):c.241C>G (p.Leu81Val)
|
rs34936594
|
0.00046
|
NM_198282.4(STING1):c.571C>T (p.Arg191Trp)
|
rs150384595
|
0.00046
|
NM_207122.2(EXT2):c.1087G>A (p.Val363Met)
|
rs138943091
|
0.00046
|
NM_000302.4(PLOD1):c.905C>A (p.Ser302Tyr)
|
rs565765056
|
0.00045
|
NM_001243133.2(NLRP3):c.1245C>T (p.Ile415=)
|
rs139852370
|
0.00045
|
NM_001270508.2(TNFAIP3):c.2364G>A (p.Met788Ile)
|
rs143002189
|
0.00045
|
NM_001367624.2(ZNF469):c.3321G>A (p.Arg1107=)
|
rs763826959
|
0.00045
|
NM_001375808.2(LPIN2):c.2568C>T (p.Leu856=)
|
rs149862905
|
0.00045
|
NM_015922.3(NSDHL):c.351T>C (p.Phe117=)
|
rs138711934
|
0.00045
|
NM_017617.5(NOTCH1):c.4930C>T (p.Leu1644=)
|
rs568700183
|
0.00045
|
NM_054027.6(ANKH):c.*2243C>T
|
rs531980160
|
0.00045
|
NM_080680.3(COL11A2):c.1382G>A (p.Gly461Asp)
|
rs141140798
|
0.00045
|
NM_212482.4(FN1):c.5761A>T (p.Ile1921Phe)
|
rs138593265
|
0.00045
|
NM_000088.4(COL1A1):c.3102T>C (p.Gly1034=)
|
rs147743501
|
0.00044
|
NM_001854.4(COL11A1):c.5198G>A (p.Arg1733His)
|
rs140250347
|
0.00044
|
NM_001999.4(FBN2):c.5675-8dup
|
rs767398234
|
0.00044
|
NM_014639.4(SKIC3):c.4081G>A (p.Ala1361Thr)
|
rs532313388
|
0.00044
|
NM_015922.3(NSDHL):c.678C>T (p.Phe226=)
|
rs147293409
|
0.00044
|
NM_030777.4(SLC2A10):c.1548-19C>T
|
rs144623242
|
0.00044
|
NM_031229.4(RBCK1):c.918-11C>T
|
rs369471646
|
0.00044
|
NM_080680.3(COL11A2):c.706C>T (p.Pro236Ser)
|
rs35116188
|
0.00044
|
NM_207122.2(EXT2):c.1022C>T (p.Pro341Leu)
|
rs141035971
|
0.00044
|
NM_000138.5(FBN1):c.*43A>T
|
rs144710695
|
0.00043
|
NM_000138.5(FBN1):c.645A>C (p.Arg215=)
|
rs200062771
|
0.00043
|
NM_000302.4(PLOD1):c.579+17G>A
|
rs181015965
|
0.00043
|
NM_002609.4(PDGFRB):c.2655C>T (p.Asp885=)
|
rs144234864
|
0.00043
|
NM_004364.5(CEBPA):c.667G>A (p.Gly223Ser)
|
rs535980233
|
0.00043
|
NM_017617.5(NOTCH1):c.3901+3G>A
|
rs373113999
|
0.00043
|
NM_024570.4(RNASEH2B):c.756A>G (p.Ser252=)
|
rs200721645
|
0.00043
|
NM_001122681.2(SH3BP2):c.1151G>A (p.Arg384Gln)
|
rs143129053
|
0.00042
|
NM_001370466.1(NOD2):c.1464G>T (p.Leu488=)
|
rs553575063
|
0.00042
|
NM_001999.4(FBN2):c.7012+7G>A
|
rs199735209
|
0.00042
|
NM_001999.4(FBN2):c.8257G>A (p.Glu2753Lys)
|
rs146781484
|
0.00042
|
NM_004239.4(TRIP11):c.4139C>T (p.Thr1380Ile)
|
rs117748213
|
0.00042
|
NM_005373.3(MPL):c.1197G>A (p.Arg399=)
|
rs148945299
|
0.00042
|
NM_005529.7(HSPG2):c.10588C>T (p.Arg3530Trp)
|
rs2270699
|
0.00042
|
NM_144687.4(NLRP12):c.559G>A (p.Val187Met)
|
rs147355465
|
0.00042
|
NM_148919.4(PSMB8):c.433C>T (p.Arg145Cys)
|
rs116076690
|
0.00042
|
NM_000127.3(EXT1):c.1536+7G>A
|
rs200128437
|
0.00041
|
NM_000431.4(MVK):c.-15+16C>T
|
rs758229545
|
0.00041
|
NM_001065.4(TNFRSF1A):c.839C>A (p.Thr280Asn)
|
rs201399382
|
0.00041
|
NM_001270508.2(TNFAIP3):c.465G>A (p.Thr155=)
|
rs140424499
|
0.00041
|
NM_001370466.1(NOD2):c.1693G>A (p.Val565Met)
|
rs148683734
|
0.00041
|
NM_001999.4(FBN2):c.1435G>A (p.Gly479Arg)
|
rs147346327
|
0.00041
|
NM_002661.5(PLCG2):c.2054+11G>C
|
rs372245323
|
0.00041
|
NM_003978.5(PSTPIP1):c.203C>T (p.Thr68Met)
|
rs201872851
|
0.00041
|
NM_005902.4(SMAD3):c.*2028T>C
|
rs549152312
|
0.00041
|
NM_005902.4(SMAD3):c.207-26779C>T
|
rs539491144
|
0.00041
|
NM_006397.3(RNASEH2A):c.323+17A>C
|
rs368719908
|
0.00041
|
NM_017617.5(NOTCH1):c.701G>A (p.Arg234His)
|
rs150737112
|
0.00041
|
NM_022168.4(IFIH1):c.1121G>A (p.Arg374His)
|
rs145520044
|
0.00041
|
NM_144687.4(NLRP12):c.2047G>A (p.Gly683Arg)
|
rs145989421
|
0.00041
|
NM_144687.4(NLRP12):c.2927+11G>A
|
rs376043494
|
0.00041
|
NM_144687.4(NLRP12):c.298C>T (p.Pro100Ser)
|
rs200813801
|
0.00041
|
NM_001270508.2(TNFAIP3):c.295+11T>C
|
rs367719917
|
0.00040
|
NM_001999.4(FBN2):c.4246A>G (p.Thr1416Ala)
|
rs200837433
|
0.00040
|
NM_003183.6(ADAM17):c.2134-11T>C
|
rs79715435
|
0.00040
|
NM_004612.4(TGFBR1):c.*2005T>G
|
rs144216869
|
0.00040
|
NM_017617.5(NOTCH1):c.3644-4G>A
|
rs376161552
|
0.00040
|
NM_144687.4(NLRP12):c.2384G>A (p.Arg795Gln)
|
rs373954247
|
0.00040
|
NM_212482.4(FN1):c.5164+14G>T
|
rs186800160
|
0.00040
|
NM_212482.4(FN1):c.5532A>C (p.Arg1844=)
|
rs149965879
|
0.00040
|
NM_001111.5(ADAR):c.2052G>A (p.Ala684=)
|
rs148041309
|
0.00039
|
NM_001111.5(ADAR):c.772G>A (p.Gly258Arg)
|
rs201143561
|
0.00039
|
NM_001243133.2(NLRP3):c.1032G>A (p.Leu344=)
|
rs180177471
|
0.00039
|
NM_001370466.1(NOD2):c.-8-2232G>C
|
rs140977130
|
0.00039
|
NM_001558.4(IL10RA):c.1260G>A (p.Ser420=)
|
rs199604463
|
0.00039
|
NM_001999.4(FBN2):c.209T>C (p.Val70Ala)
|
rs144149249
|
0.00039
|
NM_003242.6(TGFBR2):c.*312A>T
|
rs576840706
|
0.00039
|
NM_003242.6(TGFBR2):c.571G>A (p.Val191Ile)
|
rs56105708
|
0.00039
|
NM_004836.7(EIF2AK3):c.2532T>C (p.Ser844=)
|
rs56094918
|
0.00039
|
NM_005902.4(SMAD3):c.66G>A (p.Glu22=)
|
rs187952791
|
0.00039
|
NM_012275.3(IL36RN):c.115+15A>G
|
rs200453384
|
0.00039
|
NM_015474.4(SAMHD1):c.462C>T (p.Tyr154=)
|
rs149267802
|
0.00039
|
NM_017617.5(NOTCH1):c.3326-11A>C
|
rs377648586
|
0.00039
|
NM_017617.5(NOTCH1):c.7369C>G (p.Leu2457Val)
|
rs61755043
|
0.00039
|
NM_024408.4(NOTCH2):c.1804G>A (p.Ala602Thr)
|
rs140311741
|
0.00039
|
NM_030777.4(SLC2A10):c.*410A>C
|
rs146660985
|
0.00039
|
NM_198282.4(STING1):c.760-9C>A
|
rs200232916
|
0.00039
|
NM_207122.2(EXT2):c.1527A>G (p.Leu509=)
|
rs145649534
|
0.00039
|
NM_000138.5(FBN1):c.2895G>A (p.Glu965=)
|
rs140591
|
0.00038
|
NM_000302.4(PLOD1):c.1756-13C>T
|
rs370882934
|
0.00038
|
NM_001032283.3(TMPO):c.565+1750C>G
|
rs142981381
|
0.00038
|
NM_001243133.2(NLRP3):c.1645T>C (p.Leu549=)
|
rs144469697
|
0.00038
|
NM_001375808.2(LPIN2):c.446C>T (p.Pro149Leu)
|
rs147615538
|
0.00038
|
NM_001999.4(FBN2):c.8428T>A (p.Ser2810Thr)
|
rs186577030
|
0.00038
|
NM_005529.7(HSPG2):c.4647G>A (p.Thr1549=)
|
rs148362276
|
0.00038
|
NM_006397.3(RNASEH2A):c.662A>G (p.Lys221Arg)
|
rs143534021
|
0.00038
|
NM_144687.4(NLRP12):c.1495A>G (p.Ile499Val)
|
rs146903616
|
0.00038
|
NM_001065.4(TNFRSF1A):c.193+6G>A
|
rs147111217
|
0.00037
|
NM_001972.4(ELANE):c.654C>T (p.Phe218=)
|
rs148492780
|
0.00037
|
NM_003978.5(PSTPIP1):c.563-8G>A
|
rs183441330
|
0.00037
|
NM_005902.4(SMAD3):c.*798G>A
|
rs138327222
|
0.00037
|
NM_000431.4(MVK):c.371+20A>G
|
rs142078694
|
0.00036
|
NM_001065.4(TNFRSF1A):c.369C>T (p.Thr123=)
|
rs104895260
|
0.00036
|
NM_001366385.1(CARD14):c.1659C>T (p.Ser553=)
|
rs139274935
|
0.00036
|
NM_002661.5(PLCG2):c.1049G>A (p.Arg350His)
|
rs200824224
|
0.00036
|
NM_002661.5(PLCG2):c.11C>T (p.Thr4Met)
|
rs199972098
|
0.00036
|
NM_005188.4(CBL):c.12C>T (p.Asn4=)
|
rs371567712
|
0.00036
|
NM_024529.5(CDC73):c.873C>T (p.Asn291=)
|
rs149400412
|
0.00036
|
NM_031229.4(RBCK1):c.246G>A (p.Ala82=)
|
rs148091459
|
0.00036
|
NM_198253.3(TERT):c.2582+11C>T
|
rs180675821
|
0.00036
|
NM_207122.2(EXT2):c.744-10T>G
|
rs200943294
|
0.00036
|
NM_000138.5(FBN1):c.1265G>A (p.Gly422Glu)
|
rs139968089
|
0.00035
|
NM_000243.3(MEFV):c.1260+10C>T
|
rs104895137
|
0.00035
|
NM_000243.3(MEFV):c.372C>T (p.Pro124=)
|
rs104895078
|
0.00035
|
NM_001366385.1(CARD14):c.1385C>T (p.Thr462Met)
|
rs368239982
|
0.00035
|
NM_001366385.1(CARD14):c.2140G>A (p.Gly714Ser)
|
rs151150961
|
0.00035
|
NM_001844.5(COL2A1):c.4116C>T (p.Asn1372=)
|
rs150237416
|
0.00035
|
NM_001999.4(FBN2):c.5031C>T (p.Cys1677=)
|
rs147452231
|
0.00035
|
NM_001999.4(FBN2):c.6511+4C>T
|
rs368610241
|
0.00035
|
NM_002661.5(PLCG2):c.1959C>T (p.Arg653=)
|
rs117835631
|
0.00035
|
NM_003036.4(SKI):c.1033G>A (p.Ala345Thr)
|
rs150934009
|
0.00035
|
NM_003982.4(SLC7A7):c.543C>G (p.Thr181=)
|
rs145777568
|
0.00035
|
NM_004612.4(TGFBR1):c.*4728G>A
|
rs187415138
|
0.00035
|
NM_017617.5(NOTCH1):c.6429C>T (p.Asn2143=)
|
rs369845924
|
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.1707G>A (p.Leu569=)
|
rs139468110
|
0.00034
|
NM_000316.3(PTH1R):c.75+9C>T
|
rs200710310
|
0.00034
|
NM_000388.4(CASR):c.2824G>A (p.Glu942Lys)
|
rs76327999
|
0.00034
|
NM_000431.4(MVK):c.371+13T>C
|
rs201201471
|
0.00034
|
NM_001171.6(ABCC6):c.3507-15C>T
|
rs374776435
|
0.00034
|
NM_001282225.2(ADA2):c.1423C>T (p.Leu475=)
|
rs138076444
|
0.00034
|
NM_001370466.1(NOD2):c.1240G>A (p.Glu414Lys)
|
rs104895432
|
0.00034
|
NM_001375808.2(LPIN2):c.2671G>A (p.Asp891Asn)
|
rs200648652
|
0.00034
|
NM_001375808.2(LPIN2):c.552C>T (p.Gly184=)
|
rs142048129
|
0.00034
|
NM_001852.4(COL9A2):c.2058C>T (p.Ile686=)
|
rs115675008
|
0.00034
|
NM_001999.4(FBN2):c.3087C>T (p.Val1029=)
|
rs777392642
|
0.00034
|
NM_001999.4(FBN2):c.6666G>A (p.Pro2222=)
|
rs192923239
|
0.00034
|
NM_003242.6(TGFBR2):c.944C>T (p.Thr315Met)
|
rs34833812
|
0.00034
|
NM_015474.4(SAMHD1):c.768A>G (p.Gln256=)
|
rs140804613
|
0.00034
|
NM_022168.4(IFIH1):c.2196T>C (p.Tyr732=)
|
rs147175706
|
0.00034
|
NM_023110.3(FGFR1):c.1398C>T (p.Pro466=)
|
rs150652786
|
0.00034
|
NM_024408.4(NOTCH2):c.4973C>T (p.Thr1658Ile)
|
rs142462128
|
0.00034
|
NM_030777.4(SLC2A10):c.676G>A (p.Asp226Asn)
|
rs142402955
|
0.00034
|
NM_033629.6(TREX1):c.183G>A (p.Pro61=)
|
rs55852466
|
0.00034
|
NM_212482.4(FN1):c.1676-9G>A
|
rs372339259
|
0.00034
|
NM_000302.4(PLOD1):c.1428G>A (p.Lys476=)
|
rs139869965
|
0.00033
|
NM_001111.5(ADAR):c.2349A>G (p.Glu783=)
|
rs77988942
|
0.00033
|
NM_001171.6(ABCC6):c.4278C>T (p.Asp1426=)
|
rs376210462
|
0.00033
|
NM_001270508.2(TNFAIP3):c.322A>G (p.Thr108Ala)
|
rs376205580
|
0.00033
|
NM_001999.4(FBN2):c.4983C>T (p.Cys1661=)
|
rs143907156
|
0.00033
|
NM_001999.4(FBN2):c.7205G>A (p.Arg2402His)
|
rs148014419
|
0.00033
|
NM_002609.4(PDGFRB):c.263C>T (p.Thr88Ile)
|
rs147303614
|
0.00033
|
NM_002661.5(PLCG2):c.1419C>T (p.Asp473=)
|
rs372678135
|
0.00033
|
NM_004371.4(COPA):c.2683T>G (p.Ser895Ala)
|
rs139398871
|
0.00033
|
NM_005529.7(HSPG2):c.11289G>A (p.Leu3763=)
|
rs375617316
|
0.00033
|
NM_030777.4(SLC2A10):c.1289-6C>T
|
rs199967429
|
0.00033
|
NM_000081.4(LYST):c.4863-4G>A
|
rs201382097
|
0.00032
|
NM_000127.3(EXT1):c.-642G>A
|
rs534171475
|
0.00032
|
NM_000138.5(FBN1):c.5788+10C>A
|
rs371560107
|
0.00032
|
NM_000243.3(MEFV):c.926C>T (p.Thr309Met)
|
rs104895155
|
0.00032
|
NM_001042492.3(NF1):c.1933A>G (p.Met645Val)
|
rs146051850
|
0.00032
|
NM_001270508.2(TNFAIP3):c.295+8T>C
|
rs370813134
|
0.00032
|
NM_001353214.3(DYM):c.321G>A (p.Leu107=)
|
rs16950519
|
0.00032
|
NM_001370466.1(NOD2):c.1096C>T (p.Arg366Cys)
|
rs140716236
|
0.00032
|
NM_001370466.1(NOD2):c.1969C>T (p.Arg657Trp)
|
rs5743276
|
0.00032
|
NM_001999.4(FBN2):c.339G>A (p.Pro113=)
|
rs144540627
|
0.00032
|
NM_001999.4(FBN2):c.7012+6C>T
|
rs749376421
|
0.00032
|
NM_002474.3(MYH11):c.5635G>A (p.Val1879Ile)
|
rs138206921
|
0.00032
|
NM_002609.4(PDGFRB):c.2199C>T (p.Thr733=)
|
rs192355633
|
0.00032
|
NM_002661.5(PLCG2):c.3198+20C>G
|
rs141049260
|
0.00032
|
NM_003036.4(SKI):c.948G>A (p.Lys316=)
|
rs368128582
|
0.00032
|
NM_003238.6(TGFB2):c.747A>G (p.Arg249=)
|
rs147960792
|
0.00032
|
NM_003978.5(PSTPIP1):c.354+10G>A
|
rs370745407
|
0.00032
|
NM_004371.4(COPA):c.2531G>A (p.Gly844Asp)
|
rs143115096
|
0.00032
|
NM_144687.4(NLRP12):c.412C>T (p.Arg138Trp)
|
rs142971951
|
0.00032
|
NM_000138.5(FBN1):c.8363C>T (p.Thr2788Met)
|
rs143007898
|
0.00031
|
NM_001032283.3(TMPO):c.565+1493A>G
|
rs141347778
|
0.00031
|
NM_001110556.2(FLNA):c.1691+7C>A
|
rs199565118
|
0.00031
|
NM_001122681.2(SH3BP2):c.*1655C>T
|
rs563251509
|
0.00031
|
NM_001243133.2(NLRP3):c.208G>A (p.Val70Met)
|
rs117287351
|
0.00031
|
NM_001366385.1(CARD14):c.*6C>T
|
rs200373502
|
0.00031
|
NM_001366385.1(CARD14):c.1356+4C>T
|
rs373428751
|
0.00031
|
NM_001367624.2(ZNF469):c.4507C>G (p.Leu1503Val)
|
rs139043003
|
0.00031
|
NM_001370466.1(NOD2):c.2295C>T (p.Pro765=)
|
rs5743280
|
0.00031
|
NM_001844.5(COL2A1):c.3327+3G>A
|
rs192229438
|
0.00031
|
NM_001852.4(COL9A2):c.1162-3C>T
|
rs368209124
|
0.00031
|
NM_001999.4(FBN2):c.1256A>G (p.Asp419Gly)
|
rs140464202
|
0.00031
|
NM_002474.3(MYH11):c.5450C>T (p.Ala1817Val)
|
rs142654744
|
0.00031
|
NM_002609.4(PDGFRB):c.1279C>T (p.Pro427Ser)
|
rs199873101
|
0.00031
|
NM_002661.5(PLCG2):c.88G>T (p.Val30Leu)
|
rs372502550
|
0.00031
|
NM_005373.3(MPL):c.1536G>A (p.Leu512=)
|
rs137990502
|
0.00031
|
NM_017617.5(NOTCH1):c.186G>C (p.Pro62=)
|
rs374320445
|
0.00031
|
NM_198253.3(TERT):c.1932G>A (p.Thr644=)
|
rs148582238
|
0.00031
|
NM_207122.2(EXT2):c.1912G>A (p.Val638Ile)
|
rs145024832
|
0.00031
|
NM_207122.2(EXT2):c.260T>G (p.Met87Arg)
|
rs140075817
|
0.00031
|
NM_212482.4(FN1):c.1860G>A (p.Pro620=)
|
rs147845471
|
0.00031
|
NM_000138.5(FBN1):c.4640C>T (p.Thr1547Ile)
|
rs183306990
|
0.00030
|
NM_000302.4(PLOD1):c.1495C>T (p.Arg499Trp)
|
rs149124387
|
0.00030
|
NM_001110556.2(FLNA):c.5589C>T (p.Val1863=)
|
rs200787122
|
0.00030
|
NM_001852.4(COL9A2):c.1824A>G (p.Glu608=)
|
rs138949427
|
0.00030
|
NM_001854.4(COL11A1):c.139T>A (p.Phe47Ile)
|
rs143159512
|
0.00030
|
NM_001999.4(FBN2):c.3740T>C (p.Met1247Thr)
|
rs149054177
|
0.00030
|
NM_002661.5(PLCG2):c.2739+8C>A
|
rs201659233
|
0.00030
|
NM_002834.5(PTPN11):c.643-6dup
|
rs758889732
|
0.00030
|
NM_033629.6(TREX1):c.341G>A (p.Arg114His)
|
rs72556554
|
0.00030
|
NM_198253.3(TERT):c.2991G>A (p.Val997=)
|
rs376266401
|
0.00030
|
NM_000138.5(FBN1):c.2175T>C (p.Asn725=)
|
rs140606
|
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_000302.4(PLOD1):c.1471-9C>G
|
rs376476977
|
0.00029
|
NM_000431.4(MVK):c.-14-17T>C
|
rs186232847
|
0.00029
|
NM_001110556.2(FLNA):c.2449C>T (p.Pro817Ser)
|
rs200053635
|
0.00029
|
NM_001111.5(ADAR):c.1845C>T (p.Pro615=)
|
rs200560244
|
0.00029
|
NM_001243133.2(NLRP3):c.1401C>T (p.Leu467=)
|
rs141637807
|
0.00029
|
NM_001282225.2(ADA2):c.689G>A (p.Arg230Gln)
|
rs186116639
|
0.00029
|
NM_001853.4(COL9A3):c.346-19C>T
|
rs199940406
|
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_002661.5(PLCG2):c.2655G>A (p.Pro885=)
|
rs187441573
|
0.00029
|
NM_002661.5(PLCG2):c.647C>T (p.Ser216Leu)
|
rs201294738
|
0.00029
|
NM_003036.4(SKI):c.312A>T (p.Val104=)
|
rs368195821
|
0.00029
|
NM_003239.5(TGFB3):c.354C>T (p.Asn118=)
|
rs145051522
|
0.00029
|
NM_003242.6(TGFBR2):c.263+17A>C
|
rs34771516
|
0.00029
|
NM_004371.4(COPA):c.2420A>C (p.Asn807Thr)
|
rs199630217
|
0.00029
|
NM_006397.3(RNASEH2A):c.747G>A (p.Ala249=)
|
rs144494263
|
0.00029
|
NM_006949.4(STXBP2):c.1128C>T (p.Asp376=)
|
rs201407516
|
0.00029
|
NM_015474.4(SAMHD1):c.1411-18G>A
|
rs373910542
|
0.00029
|
NM_015474.4(SAMHD1):c.334G>A (p.Val112Ile)
|
rs144353824
|
0.00029
|
NM_023110.3(FGFR1):c.2424C>G (p.Pro808=)
|
rs374507681
|
0.00029
|
NM_024408.4(NOTCH2):c.7086C>T (p.Asp2362=)
|
rs150657714
|
0.00029
|
NM_024570.4(RNASEH2B):c.762G>A (p.Glu254=)
|
rs146378238
|
0.00029
|
NM_030777.4(SLC2A10):c.696C>G (p.Thr232=)
|
rs138679634
|
0.00029
|
NM_207122.2(EXT2):c.1806+11G>A
|
rs372517964
|
0.00029
|
NM_207122.2(EXT2):c.509C>T (p.Thr170Ile)
|
rs113846849
|
0.00029
|
NM_000038.6(APC):c.3511C>T (p.Arg1171Cys)
|
rs201830995
|
0.00028
|
NM_000138.5(FBN1):c.7072G>A (p.Val2358Ile)
|
rs140537304
|
0.00028
|
NM_000546.5(TP53):c.319T>C (p.Tyr107His)
|
rs368771578
|
0.00028
|
NM_001972.4(ELANE):c.16C>A (p.Arg6=)
|
rs182347433
|
0.00028
|
NM_001999.4(FBN2):c.217C>A (p.Arg73Ser)
|
rs148493036
|
0.00028
|
NM_002474.3(MYH11):c.1512C>T (p.Ile504=)
|
rs149630866
|
0.00028
|
NM_004364.5(CEBPA):c.789C>T (p.Leu263=)
|
rs552131738
|
0.00028
|
NM_006929.5(SKIC2):c.254C>T (p.Thr85Met)
|
rs146717555
|
0.00028
|
NM_022168.4(IFIH1):c.2016del (p.Asp673fs)
|
rs773033563
|
0.00028
|
NM_053025.4(MYLK):c.5114+8G>A
|
rs202229368
|
0.00028
|
NM_000081.4(LYST):c.368A>G (p.His123Arg)
|
rs3768067
|
0.00027
|
NM_000090.4(COL3A1):c.3133G>A (p.Ala1045Thr)
|
rs149722210
|
0.00027
|
NM_001122681.2(SH3BP2):c.*5109C>T
|
rs541832240
|
0.00027
|
NM_001171.6(ABCC6):c.1990C>T (p.Pro664Ser)
|
rs59002125
|
0.00027
|
NM_001370466.1(NOD2):c.760C>T (p.Leu254Phe)
|
rs756943416
|
0.00027
|
NM_001558.4(IL10RA):c.804T>C (p.Ser268=)
|
rs139791763
|
0.00027
|
NM_001558.4(IL10RA):c.8C>A (p.Pro3Gln)
|
rs56008037
|
0.00027
|
NM_002661.5(PLCG2):c.648+12C>G
|
rs145838332
|
0.00027
|
NM_003978.5(PSTPIP1):c.882G>A (p.Pro294=)
|
rs200796501
|
0.00027
|
NM_022168.4(IFIH1):c.2304+3A>G
|
rs376806735
|
0.00027
|
NM_058172.6(ANTXR2):c.1360G>A (p.Ala454Thr)
|
rs185151361
|
0.00027
|
NM_080425.4(GNAS):c.1395A>C (p.Pro465=)
|
rs56213454
|
0.00027
|
NM_144687.4(NLRP12):c.291T>C (p.Asp97=)
|
rs201046901
|
0.00027
|
NM_144687.4(NLRP12):c.779C>T (p.Thr260Met)
|
rs150280940
|
0.00027
|
NM_207122.2(EXT2):c.843A>G (p.Leu281=)
|
rs111320923
|
0.00027
|
NM_212482.4(FN1):c.2713+20A>G
|
rs368435928
|
0.00027
|
NM_000138.5(FBN1):c.2187A>C (p.Leu729=)
|
rs61730055
|
0.00026
|
NM_000138.5(FBN1):c.539-15del
|
rs193922211
|
0.00026
|
NM_000138.5(FBN1):c.5423-4G>A
|
rs377036485
|
0.00026
|
NM_000393.5(COL5A2):c.322+8T>C
|
rs372227642
|
0.00026
|
NM_001065.4(TNFRSF1A):c.1058-4G>A
|
rs369451569
|
0.00026
|
NM_001065.4(TNFRSF1A):c.988G>A (p.Ala330Thr)
|
rs200029309
|
0.00026
|
NM_001111.5(ADAR):c.126G>A (p.Lys42=)
|
rs150322339
|
0.00026
|
NM_001122681.2(SH3BP2):c.*1361C>G
|
rs142486836
|
0.00026
|
NM_001171.6(ABCC6):c.3507-17G>A
|
rs58571995
|
0.00026
|
NM_001366385.1(CARD14):c.2403C>T (p.Ser801=)
|
rs189286068
|
0.00026
|
NM_001366385.1(CARD14):c.27C>T (p.Ser9=)
|
rs9895931
|
0.00026
|
NM_001367624.2(ZNF469):c.10717G>A (p.Gly3573Arg)
|
rs183149417
|
0.00026
|
NM_001370466.1(NOD2):c.662T>G (p.Leu221Arg)
|
rs104895423
|
0.00026
|
NM_001375808.2(LPIN2):c.516C>T (p.Ala172=)
|
rs150312425
|
0.00026
|
NM_001558.4(IL10RA):c.*756T>C
|
rs188436763
|
0.00026
|
NM_001844.5(COL2A1):c.2680-9C>T
|
rs369022247
|
0.00026
|
NM_001844.5(COL2A1):c.762+20C>A
|
rs199807767
|
0.00026
|
NM_001999.4(FBN2):c.1850-9C>T
|
rs199937209
|
0.00026
|
NM_001999.4(FBN2):c.2249-19A>G
|
rs193091226
|
0.00026
|
NM_001999.4(FBN2):c.2651G>C (p.Ser884Thr)
|
rs139035999
|
0.00026
|
NM_002474.3(MYH11):c.914A>G (p.Asn305Ser)
|
rs185661462
|
0.00026
|
NM_003036.4(SKI):c.1302G>A (p.Pro434=)
|
rs111459205
|
0.00026
|
NM_003036.4(SKI):c.1384C>G (p.Pro462Ala)
|
rs199797772
|
0.00026
|
NM_003242.6(TGFBR2):c.915C>T (p.Leu305=)
|
rs146030104
|
0.00026
|
NM_004239.4(TRIP11):c.107A>T (p.Asp36Val)
|
rs186074112
|
0.00026
|
NM_004612.4(TGFBR1):c.528G>A (p.Thr176=)
|
rs190878719
|
0.00026
|
NM_005902.4(SMAD3):c.*1165A>G
|
rs567052377
|
0.00026
|
NM_017617.5(NOTCH1):c.4407C>T (p.Asn1469=)
|
rs202231073
|
0.00026
|
NM_022168.4(IFIH1):c.2962G>T (p.Val988Leu)
|
rs74162090
|
0.00026
|
NM_022168.4(IFIH1):c.420G>A (p.Glu140=)
|
rs74162073
|
0.00026
|
NM_030777.4(SLC2A10):c.931G>A (p.Val311Ile)
|
rs139932041
|
0.00026
|
NM_053025.4(MYLK):c.1609G>A (p.Val537Ile)
|
rs199988497
|
0.00026
|
NM_080680.3(COL11A2):c.230C>A (p.Pro77Gln)
|
rs35765893
|
0.00026
|
NM_080680.3(COL11A2):c.2757C>T (p.Gly919=)
|
rs34478777
|
0.00026
|
NM_080680.3(COL11A2):c.5071-5T>G
|
rs368309085
|
0.00026
|
NM_212482.4(FN1):c.1638C>T (p.Phe546=)
|
rs368833093
|
0.00026
|
NM_000089.4(COL1A2):c.2163C>T (p.Gly721=)
|
rs150670521
|
0.00025
|
NM_000138.5(FBN1):c.7338C>T (p.Asn2446=)
|
rs140178192
|
0.00025
|
NM_000431.4(MVK):c.876C>T (p.Leu292=)
|
rs370301290
|
0.00025
|
NM_001032283.3(TMPO):c.565+1748T>A
|
rs138388686
|
0.00025
|
NM_001042492.3(NF1):c.61-19T>C
|
rs185325140
|
0.00025
|
NM_001110556.2(FLNA):c.3421G>A (p.Ala1141Thr)
|
rs201908251
|
0.00025
|
NM_001122681.2(SH3BP2):c.1141G>A (p.Val381Met)
|
rs201966956
|
0.00025
|
NM_001171.6(ABCC6):c.396A>G (p.Ser132=)
|
rs913912489
|
0.00025
|
NM_001199138.2(NLRC4):c.2177T>C (p.Ile726Thr)
|
rs143970368
|
0.00025
|
NM_001243133.2(NLRP3):c.2668G>T (p.Val890Leu)
|
rs193085132
|
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.2190C>T (p.Ala730=)
|
rs146968151
|
0.00025
|
NM_001366385.1(CARD14):c.2956C>T (p.Arg986Cys)
|
rs112478200
|
0.00025
|
NM_001375808.2(LPIN2):c.*2390C>T
|
rs555969171
|
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_001852.4(COL9A2):c.1400A>G (p.Gln467Arg)
|
rs373264436
|
0.00025
|
NM_002451.4(MTAP):c.179+12T>A
|
rs369294437
|
0.00025
|
NM_002661.5(PLCG2):c.2882C>T (p.Thr961Met)
|
rs371326699
|
0.00025
|
NM_003978.5(PSTPIP1):c.1151A>G (p.Asp384Gly)
|
rs200771233
|
0.00025
|
NM_004985.5(KRAS):c.24A>G (p.Val8=)
|
rs147406419
|
0.00025
|
NM_005902.4(SMAD3):c.207-10G>A
|
rs201912204
|
0.00025
|
NM_022168.4(IFIH1):c.2597C>T (p.Pro866Leu)
|
rs200833729
|
0.00025
|
NM_033629.6(TREX1):c.339G>A (p.Arg113=)
|
rs56400532
|
0.00025
|
NM_053025.4(MYLK):c.2253C>T (p.Thr751=)
|
rs138777049
|
0.00025
|
NM_144687.4(NLRP12):c.2757-8C>G
|
rs370391218
|
0.00025
|
NM_207122.2(EXT2):c.1645C>T (p.Leu549=)
|
rs142565472
|
0.00025
|
NM_207122.2(EXT2):c.939+19C>G
|
rs370017441
|
0.00025
|
NM_212482.4(FN1):c.2538G>A (p.Ser846=)
|
rs145300210
|
0.00025
|
NM_000127.3(EXT1):c.1066G>A (p.Val356Ile)
|
rs61753260
|
0.00024
|
NM_000138.5(FBN1):c.*2360C>G
|
rs144404153
|
0.00024
|
NM_000138.5(FBN1):c.2678-12T>C
|
rs200368037
|
0.00024
|
NM_000138.5(FBN1):c.8445C>T (p.Leu2815=)
|
rs142304692
|
0.00024
|
NM_000243.3(MEFV):c.1677C>T (p.Leu559=)
|
rs144672997
|
0.00024
|
NM_000431.4(MVK):c.618T>A (p.Ala206=)
|
rs370745426
|
0.00024
|
NM_001042492.3(NF1):c.369C>G (p.Thr123=)
|
rs146691765
|
0.00024
|
NM_001171.6(ABCC6):c.3564G>A (p.Thr1188=)
|
rs58494932
|
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_001370466.1(NOD2):c.1922C>T (p.Pro641Leu)
|
rs5743275
|
0.00024
|
NM_001558.4(IL10RA):c.*984C>A
|
rs749570289
|
0.00024
|
NM_001558.4(IL10RA):c.937C>T (p.Leu313=)
|
rs142396542
|
0.00024
|
NM_001558.4(IL10RA):c.96G>A (p.Val32=)
|
rs377525753
|
0.00024
|
NM_001854.4(COL11A1):c.898-15T>C
|
rs200242905
|
0.00024
|
NM_003036.4(SKI):c.1321C>T (p.Arg441Trp)
|
rs201613746
|
0.00024
|
NM_003183.6(ADAM17):c.231-14G>A
|
rs370060861
|
0.00024
|
NM_003978.5(PSTPIP1):c.693G>A (p.Leu231=)
|
rs374055726
|
0.00024
|
NM_004371.4(COPA):c.3184G>T (p.Val1062Leu)
|
rs138625189
|
0.00024
|
NM_004944.4(DNASE1L3):c.777A>G (p.Lys259=)
|
rs138248740
|
0.00024
|
NM_005373.3(MPL):c.549G>A (p.Thr183=)
|
rs147130173
|
0.00024
|
NM_005373.3(MPL):c.963G>T (p.Arg321=)
|
rs138636505
|
0.00024
|
NM_005902.4(SMAD3):c.*1217A>G
|
rs150600147
|
0.00024
|
NM_022168.4(IFIH1):c.2459G>A (p.Arg820His)
|
rs74162087
|
0.00024
|
NM_022168.4(IFIH1):c.445A>G (p.Arg149Gly)
|
rs74162074
|
0.00024
|
NM_024529.5(CDC73):c.-10G>T
|
rs188082584
|
0.00024
|
NM_030777.4(SLC2A10):c.1079A>G (p.Asn360Ser)
|
rs139117495
|
0.00024
|
NM_032193.4(RNASEH2C):c.393G>A (p.Leu131=)
|
rs138181714
|
0.00024
|
NM_080680.3(COL11A2):c.4950C>T (p.Asp1650=)
|
rs372110441
|
0.00024
|
NM_207122.2(EXT2):c.444C>T (p.Asn148=)
|
rs145884580
|
0.00024
|
NM_000138.5(FBN1):c.6314-15G>A
|
rs200841830
|
0.00023
|
NM_000302.4(PLOD1):c.1471-8C>T
|
rs201661871
|
0.00023
|
NM_000431.4(MVK):c.1128C>T (p.Gly376=)
|
rs147662789
|
0.00023
|
NM_001110556.2(FLNA):c.237G>C (p.Ala79=)
|
rs200626788
|
0.00023
|
NM_001199138.2(NLRC4):c.1083G>A (p.Thr361=)
|
rs146516795
|
0.00023
|
NM_001366385.1(CARD14):c.1852-8G>A
|
rs544120287
|
0.00023
|
NM_001558.4(IL10RA):c.781C>T (p.Arg261Trp)
|
rs201396764
|
0.00023
|
NM_002609.4(PDGFRB):c.17C>T (p.Ala6Val)
|
rs150173975
|
0.00023
|
NM_003036.4(SKI):c.2183C>T (p.Pro728Leu)
|
rs372950890
|
0.00023
|
NM_003239.5(TGFB3):c.193G>A (p.Val65Ile)
|
rs201059075
|
0.00023
|
NM_005373.3(MPL):c.1666G>T (p.Val556Phe)
|
rs150004498
|
0.00023
|
NM_030777.4(SLC2A10):c.317C>G (p.Ala106Gly)
|
rs144095826
|
0.00023
|
NM_198282.4(STING1):c.1076A>G (p.Gln359Arg)
|
rs141830680
|
0.00023
|
NM_212482.4(FN1):c.1143C>T (p.Asp381=)
|
rs200307732
|
0.00023
|
NM_000516.7(GNAS):c.312+17T>C
|
rs78999525
|
0.00022
|
NM_001032283.3(TMPO):c.252G>T (p.Ala84=)
|
rs727504659
|
0.00022
|
NM_001065.4(TNFRSF1A):c.-233C>T
|
rs45537340
|
0.00022
|
NM_001122681.2(SH3BP2):c.*5875A>G
|
rs531267078
|
0.00022
|
NM_001199138.2(NLRC4):c.2629G>A (p.Val877Met)
|
rs147021864
|
0.00022
|
NM_001370466.1(NOD2):c.1235G>A (p.Arg412His)
|
rs143110172
|
0.00022
|
NM_001611.5(ACP5):c.30G>T (p.Leu10=)
|
rs139654624
|
0.00022
|
NM_001852.4(COL9A2):c.1834G>A (p.Gly612Arg)
|
rs142151614
|
0.00022
|
NM_001999.4(FBN2):c.5917+9T>G
|
rs371439173
|
0.00022
|
NM_002296.4(LBR):c.899A>G (p.Tyr300Cys)
|
rs2230422
|
0.00022
|
NM_002661.5(PLCG2):c.2036C>G (p.Ser679Cys)
|
rs374768937
|
0.00022
|
NM_002661.5(PLCG2):c.766-13T>G
|
rs115570507
|
0.00022
|
NM_003978.5(PSTPIP1):c.1145C>T (p.Ala382Val)
|
rs202205180
|
0.00022
|
NM_004612.4(TGFBR1):c.1032T>C (p.Asn344=)
|
rs192662552
|
0.00022
|
NM_004612.4(TGFBR1):c.415A>G (p.Ile139Val)
|
rs148176750
|
0.00022
|
NM_024408.4(NOTCH2):c.5161G>A (p.Ala1721Thr)
|
rs115013051
|
0.00022
|
NM_207122.2(EXT2):c.1519G>A (p.Val507Ile)
|
rs567445428
|
0.00022
|
NM_000047.3(ARSL):c.102C>T (p.Ser34=)
|
rs151070930
|
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.303-16G>A
|
rs369132980
|
0.00021
|
NM_001243133.2(NLRP3):c.2118C>T (p.Leu706=)
|
rs149493236
|
0.00021
|
NM_001243133.2(NLRP3):c.2358C>T (p.Phe786=)
|
rs867062949
|
0.00021
|
NM_001243133.2(NLRP3):c.525C>T (p.His175=)
|
rs376196301
|
0.00021
|
NM_001370466.1(NOD2):c.1036C>T (p.Arg346Cys)
|
rs145293873
|
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.2445T>C (p.Asp815=)
|
rs140249737
|
0.00021
|
NM_001457.4(FLNB):c.1203C>T (p.Thr401=)
|
rs148507053
|
0.00021
|
NM_001999.4(FBN2):c.3394G>A (p.Val1132Ile)
|
rs138834515
|
0.00021
|
NM_001999.4(FBN2):c.5004C>T (p.Asn1668=)
|
rs140012679
|
0.00021
|
NM_001999.4(FBN2):c.8282C>T (p.Ala2761Val)
|
rs201962592
|
0.00021
|
NM_002661.5(PLCG2):c.2427A>G (p.Gly809=)
|
rs200844173
|
0.00021
|
NM_002661.5(PLCG2):c.480-15C>T
|
rs368147709
|
0.00021
|
NM_002661.5(PLCG2):c.678C>T (p.Ser226=)
|
rs111553163
|
0.00021
|
NM_005373.3(MPL):c.209C>T (p.Pro70Leu)
|
rs61754776
|
0.00021
|
NM_017617.5(NOTCH1):c.2970-9C>T
|
rs568052902
|
0.00021
|
NM_022168.4(IFIH1):c.1766-3C>T
|
rs183649893
|
0.00021
|
NM_024408.4(NOTCH2):c.6997G>C (p.Ala2333Pro)
|
rs143506822
|
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_212482.4(FN1):c.3909T>G (p.Val1303=)
|
rs200729428
|
0.00021
|
NM_000243.3(MEFV):c.1370C>T (p.Ala457Val)
|
rs104895151
|
0.00020
|
NM_000628.5(IL10RB):c.388C>T (p.Arg130Cys)
|
rs138134904
|
0.00020
|
NM_001065.4(TNFRSF1A):c.645C>T (p.Pro215=)
|
rs147075345
|
0.00020
|
NM_001243133.2(NLRP3):c.1383C>T (p.Cys461=)
|
rs104895398
|
0.00020
|
NM_001243133.2(NLRP3):c.2703T>G (p.Ala901=)
|
rs138089800
|
0.00020
|
NM_001243133.2(NLRP3):c.564C>T (p.Ile188=)
|
rs147631017
|
0.00020
|
NM_001370466.1(NOD2):c.192C>T (p.Thr64=)
|
rs146923251
|
0.00020
|
NM_001370466.1(NOD2):c.2251G>A (p.Glu751Lys)
|
rs104895443
|
0.00020
|
NM_001611.5(ACP5):c.597C>T (p.Tyr199=)
|
rs750930124
|
0.00020
|
NM_001999.4(FBN2):c.8595C>T (p.Pro2865=)
|
rs137914321
|
0.00020
|
NM_002474.3(MYH11):c.1034-12T>G
|
rs184847335
|
0.00020
|
NM_002609.4(PDGFRB):c.499G>A (p.Val167Ile)
|
rs144857517
|
0.00020
|
NM_017617.5(NOTCH1):c.1787C>T (p.Thr596Met)
|
rs61755997
|
0.00020
|
NM_207122.2(EXT2):c.2013G>A (p.Val671=)
|
rs371019537
|
0.00020
|
NM_207122.2(EXT2):c.896G>A (p.Arg299His)
|
rs76901081
|
0.00020
|
NM_212482.4(FN1):c.4791C>T (p.Ser1597=)
|
rs374970848
|
0.00020
|
NM_000088.4(COL1A1):c.2932C>T (p.Pro978Ser)
|
rs193922153
|
0.00019
|
NM_000127.3(EXT1):c.1319G>A (p.Arg440His)
|
rs144550328
|
0.00019
|
NM_000138.5(FBN1):c.6705A>C (p.Gly2235=)
|
rs2229326
|
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.411G>A (p.Arg137=)
|
rs151122664
|
0.00019
|
NM_000628.5(IL10RB):c.215C>T (p.Thr72Met)
|
rs148466782
|
0.00019
|
NM_000628.5(IL10RB):c.25C>T (p.Leu9=)
|
rs373218420
|
0.00019
|
NM_001199138.2(NLRC4):c.1380G>A (p.Thr460=)
|
rs151186164
|
0.00019
|
NM_001199138.2(NLRC4):c.1569C>T (p.Ile523=)
|
rs758432190
|
0.00019
|
NM_001243133.2(NLRP3):c.674C>T (p.Ala225Val)
|
rs180177493
|
0.00019
|
NM_001366385.1(CARD14):c.2773G>A (p.Val925Ile)
|
rs372586928
|
0.00019
|
NM_001366385.1(CARD14):c.2807+10C>T
|
rs368700533
|
0.00019
|
NM_001370466.1(NOD2):c.1923G>A (p.Pro641=)
|
rs199475914
|
0.00019
|
NM_001558.4(IL10RA):c.420C>T (p.Leu140=)
|
rs201857411
|
0.00019
|
NM_001854.4(COL11A1):c.4802C>A (p.Thr1601Asn)
|
rs143206624
|
0.00019
|
NM_001999.4(FBN2):c.27C>G (p.Leu9=)
|
rs369714882
|
0.00019
|
NM_002609.4(PDGFRB):c.2466C>T (p.Cys822=)
|
rs55830572
|
0.00019
|
NM_002661.5(PLCG2):c.171C>T (p.Thr57=)
|
rs374354863
|
0.00019
|
NM_002661.5(PLCG2):c.2211C>T (p.Pro737=)
|
rs368933697
|
0.00019
|
NM_003036.4(SKI):c.2174A>C (p.Glu725Ala)
|
rs747798210
|
0.00019
|
NM_003183.6(ADAM17):c.362-6C>T
|
rs552450601
|
0.00019
|
NM_004371.4(COPA):c.2234G>A (p.Arg745His)
|
rs138441444
|
0.00019
|
NM_004371.4(COPA):c.2655T>C (p.Asp885=)
|
rs139605934
|
0.00019
|
NM_004371.4(COPA):c.399G>A (p.Gly133=)
|
rs142221638
|
0.00019
|
NM_005902.4(SMAD3):c.*665T>A
|
rs186841203
|
0.00019
|
NM_017617.5(NOTCH1):c.6733G>A (p.Gly2245Arg)
|
rs201613894
|
0.00019
|
NM_030777.4(SLC2A10):c.1008C>T (p.Thr336=)
|
rs370173604
|
0.00019
|
NM_030777.4(SLC2A10):c.1593G>A (p.Pro531=)
|
rs148424607
|
0.00019
|
NM_031229.4(RBCK1):c.461-4A>G
|
rs371854549
|
0.00019
|
NM_031229.4(RBCK1):c.531C>T (p.Val177=)
|
rs375018967
|
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_212482.4(FN1):c.2413A>G (p.Thr805Ala)
|
rs199957523
|
0.00019
|
NM_212482.4(FN1):c.278-18C>T
|
rs57534860
|
0.00019
|
NM_000090.4(COL3A1):c.2805T>C (p.Pro935=)
|
rs111567071
|
0.00018
|
NM_000138.5(FBN1):c.228C>T (p.Gly76=)
|
rs141651917
|
0.00018
|
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.902G>T (p.Gly301Val)
|
rs142888621
|
0.00018
|
NM_000243.3(MEFV):c.656G>A (p.Gly219Asp)
|
rs752973530
|
0.00018
|
NM_000302.4(PLOD1):c.1140C>T (p.Ser380=)
|
rs200131516
|
0.00018
|
NM_000393.5(COL5A2):c.1182G>A (p.Ala394=)
|
rs148229627
|
0.00018
|
NM_001065.4(TNFRSF1A):c.1206C>T (p.Ser402=)
|
rs148334665
|
0.00018
|
NM_001111.5(ADAR):c.*1397C>T
|
rs201602333
|
0.00018
|
NM_001122681.2(SH3BP2):c.*2917C>T
|
rs530055437
|
0.00018
|
NM_001171.6(ABCC6):c.1141T>C (p.Leu381=)
|
rs72664284
|
0.00018
|
NM_001370466.1(NOD2):c.2066G>A (p.Arg689His)
|
rs200035357
|
0.00018
|
NM_001370466.1(NOD2):c.59C>T (p.Ser20Leu)
|
rs201586544
|
0.00018
|
NM_001375808.2(LPIN2):c.2327+10C>T
|
rs367921036
|
0.00018
|
NM_001999.4(FBN2):c.6253C>G (p.Pro2085Ala)
|
rs34845843
|
0.00018
|
NM_003242.6(TGFBR2):c.984C>T (p.His328=)
|
rs193922666
|
0.00018
|
NM_003664.5(AP3B1):c.402C>T (p.Ser134=)
|
rs144761256
|
0.00018
|
NM_004364.5(CEBPA):c.468G>A (p.Arg156=)
|
rs921129497
|
0.00018
|
NM_004371.4(COPA):c.1667+9A>G
|
rs375429812
|
0.00018
|
NM_024408.4(NOTCH2):c.1108+17C>T
|
rs376006218
|
0.00018
|
NM_024408.4(NOTCH2):c.6486C>T (p.Ser2162=)
|
rs372865598
|
0.00018
|
NM_024570.4(RNASEH2B):c.64+8C>T
|
rs957777357
|
0.00018
|
NM_080680.3(COL11A2):c.2017-5T>G
|
rs200523422
|
0.00018
|
NM_198253.3(TERT):c.838G>A (p.Glu280Lys)
|
rs199701877
|
0.00018
|
NM_198282.4(STING1):c.758G>A (p.Arg253Gln)
|
rs148833313
|
0.00018
|
NM_000138.5(FBN1):c.3514G>A (p.Val1172Met)
|
rs200125037
|
0.00017
|
NM_000138.5(FBN1):c.6342A>C (p.Gly2114=)
|
rs374705586
|
0.00017
|
NM_000243.3(MEFV):c.1245C>T (p.Val415=)
|
rs104895195
|
0.00017
|
NM_000302.4(PLOD1):c.579+10A>G
|
rs538255620
|
0.00017
|
NM_000435.3(NOTCH3):c.3328-8C>A
|
rs200360207
|
0.00017
|
NM_000435.3(NOTCH3):c.3692G>A (p.Arg1231His)
|
rs778176344
|
0.00017
|
NM_000516.7(GNAS):c.530+11G>A
|
rs74474807
|
0.00017
|
NM_001199138.2(NLRC4):c.2844T>C (p.Arg948=)
|
rs367708050
|
0.00017
|
NM_001199138.2(NLRC4):c.90G>A (p.Trp30Ter)
|
rs148696946
|
0.00017
|
NM_001282225.2(ADA2):c.46C>T (p.Leu16=)
|
rs367610393
|
0.00017
|
NM_001375808.2(LPIN2):c.2328-13A>T
|
rs199830303
|
0.00017
|
NM_001457.4(FLNB):c.5785G>A (p.Asp1929Asn)
|
rs146685642
|
0.00017
|
NM_001999.4(FBN2):c.1466-4G>A
|
rs371636769
|
0.00017
|
NM_001999.4(FBN2):c.7700C>T (p.Thr2567Ile)
|
rs150672907
|
0.00017
|
NM_004612.4(TGFBR1):c.*1659T>C
|
rs200082162
|
0.00017
|
NM_004612.4(TGFBR1):c.*3798G>A
|
rs141277814
|
0.00017
|
NM_004944.4(DNASE1L3):c.444C>T (p.Asp148=)
|
rs370862010
|
0.00017
|
NM_005529.7(HSPG2):c.3708G>A (p.Ala1236=)
|
rs202214491
|
0.00017
|
NM_015922.3(NSDHL):c.987C>T (p.Val329=)
|
rs149122192
|
0.00017
|
NM_022168.4(IFIH1):c.1765G>A (p.Ala589Thr)
|
rs150760072
|
0.00017
|
NM_024408.4(NOTCH2):c.3206G>A (p.Arg1069Gln)
|
rs146014987
|
0.00017
|
NM_024408.4(NOTCH2):c.3913G>A (p.Val1305Ile)
|
rs587688280
|
0.00017
|
NM_053025.4(MYLK):c.2693G>A (p.Arg898Gln)
|
rs145507832
|
0.00017
|
NM_058172.6(ANTXR2):c.1179+3T>C
|
rs199610196
|
0.00017
|
NM_198282.4(STING1):c.340G>A (p.Gly114Ser)
|
rs189211438
|
0.00017
|
NM_198282.4(STING1):c.61G>A (p.Ala21Thr)
|
rs140011636
|
0.00017
|
NM_212482.4(FN1):c.2714-11_2714-10del
|
rs371418810
|
0.00017
|
NM_000089.4(COL1A2):c.2168A>G (p.Asn723Ser)
|
rs189374343
|
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.8027C>T (p.Pro2676Leu)
|
rs146469379
|
0.00016
|
NM_000243.3(MEFV):c.297C>T (p.Asn99=)
|
rs104895175
|
0.00016
|
NM_000388.4(CASR):c.27C>T (p.Val9=)
|
rs141880581
|
0.00016
|
NM_000628.5(IL10RB):c.630G>A (p.Glu210=)
|
rs374589516
|
0.00016
|
NM_000628.5(IL10RB):c.763G>A (p.Ala255Thr)
|
rs182875134
|
0.00016
|
NM_000628.5(IL10RB):c.804+17G>A
|
rs369971241
|
0.00016
|
NM_001032283.3(TMPO):c.534T>C (p.Asn178=)
|
rs200016687
|
0.00016
|
NM_001083116.3(PRF1):c.1357G>A (p.Val453Met)
|
rs141864315
|
0.00016
|
NM_001122681.2(SH3BP2):c.*3916C>G
|
rs544079376
|
0.00016
|
NM_001171.6(ABCC6):c.1312G>A (p.Val438Met)
|
rs542502733
|
0.00016
|
NM_001171.6(ABCC6):c.4176G>A (p.Gln1392=)
|
rs534017491
|
0.00016
|
NM_001243133.2(NLRP3):c.2611G>A (p.Ala871Thr)
|
rs201867582
|
0.00016
|
NM_001366385.1(CARD14):c.1728G>A (p.Gly576=)
|
rs375480599
|
0.00016
|
NM_001370466.1(NOD2):c.299C>T (p.Ser100Leu)
|
rs146395646
|
0.00016
|
NM_001370466.1(NOD2):c.665A>G (p.Glu222Gly)
|
rs117836686
|
0.00016
|
NM_001375808.2(LPIN2):c.1793+17C>T
|
rs188429587
|
0.00016
|
NM_001558.4(IL10RA):c.*1352G>A
|
rs570165681
|
0.00016
|
NM_001844.5(COL2A1):c.1023+3G>A
|
rs374570848
|
0.00016
|
NM_001852.4(COL9A2):c.*561A>G
|
rs138560646
|
0.00016
|
NM_001999.4(FBN2):c.3235G>T (p.Ala1079Ser)
|
rs774996980
|
0.00016
|
NM_002661.5(PLCG2):c.1923C>T (p.His641=)
|
rs374927413
|
0.00016
|
NM_002661.5(PLCG2):c.2181A>C (p.Arg727=)
|
rs372269946
|
0.00016
|
NM_002661.5(PLCG2):c.2940G>A (p.Lys980=)
|
rs376216756
|
0.00016
|
NM_003036.4(SKI):c.42C>T (p.His14=)
|
rs543603037
|
0.00016
|
NM_003036.4(SKI):c.799C>T (p.Leu267=)
|
rs140178396
|
0.00016
|
NM_003183.6(ADAM17):c.1995A>G (p.Gly665=)
|
rs369229801
|
0.00016
|
NM_004371.4(COPA):c.1667+13T>C
|
rs142399844
|
0.00016
|
NM_004612.4(TGFBR1):c.*2179del
|
rs373576679
|
0.00016
|
NM_004836.7(EIF2AK3):c.1173T>C (p.Tyr391=)
|
rs146949180
|
0.00016
|
NM_005529.7(HSPG2):c.1549G>A (p.Ala517Thr)
|
rs139719757
|
0.00016
|
NM_006397.3(RNASEH2A):c.857G>A (p.Arg286Gln)
|
rs778842661
|
0.00016
|
NM_006929.5(SKIC2):c.3159T>C (p.Pro1053=)
|
rs149774440
|
0.00016
|
NM_017617.5(NOTCH1):c.1689C>T (p.Cys563=)
|
rs760548976
|
0.00016
|
NM_017617.5(NOTCH1):c.3011C>T (p.Ser1004Leu)
|
rs201163739
|
0.00016
|
NM_022168.4(IFIH1):c.1096-3A>G
|
rs373969191
|
0.00016
|
NM_022168.4(IFIH1):c.1558A>G (p.Thr520Ala)
|
rs145641024
|
0.00016
|
NM_024408.4(NOTCH2):c.2480-4C>G
|
rs201770901
|
0.00016
|
NM_024408.4(NOTCH2):c.6893G>A (p.Arg2298Gln)
|
rs140832430
|
0.00016
|
NM_030777.4(SLC2A10):c.780C>T (p.Ser260=)
|
rs181500247
|
0.00016
|
NM_032193.4(RNASEH2C):c.348+18G>A
|
rs372964595
|
0.00016
|
NM_053025.4(MYLK):c.4293G>A (p.Pro1431=)
|
rs370153686
|
0.00016
|
NM_080680.3(COL11A2):c.2254G>A (p.Val752Met)
|
rs201076557
|
0.00016
|
NM_080680.3(COL11A2):c.2921C>T (p.Ala974Val)
|
rs376797260
|
0.00016
|
NM_144687.4(NLRP12):c.1403G>T (p.Gly468Val)
|
rs559396586
|
0.00016
|
NM_144687.4(NLRP12):c.2212A>C (p.Arg738=)
|
rs199966186
|
0.00016
|
NM_148919.4(PSMB8):c.538-8T>C
|
rs183970725
|
0.00016
|
NM_212482.4(FN1):c.1820-16A>G
|
rs72943927
|
0.00016
|
NM_000127.3(EXT1):c.1612G>A (p.Val538Ile)
|
rs767492816
|
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_000243.3(MEFV):c.1261-28A>G
|
rs104895140
|
0.00015
|
NM_000243.3(MEFV):c.1518C>T (p.Ile506=)
|
rs104895099
|
0.00015
|
NM_000302.4(PLOD1):c.1689G>A (p.Glu563=)
|
rs139230801
|
0.00015
|
NM_000302.4(PLOD1):c.897G>A (p.Pro299=)
|
rs199946373
|
0.00015
|
NM_001032283.3(TMPO):c.565+2376C>T
|
rs202035749
|
0.00015
|
NM_001065.4(TNFRSF1A):c.452A>G (p.Asn151Ser)
|
rs369875050
|
0.00015
|
NM_001065.4(TNFRSF1A):c.551+18C>A
|
rs368670172
|
0.00015
|
NM_001122681.2(SH3BP2):c.1367C>T (p.Ser456Leu)
|
rs199818232
|
0.00015
|
NM_001122681.2(SH3BP2):c.459C>T (p.Tyr153=)
|
rs200183258
|
0.00015
|
NM_001370466.1(NOD2):c.46G>A (p.Glu16Lys)
|
rs200089552
|
0.00015
|
NM_001375808.2(LPIN2):c.1793+18T>C
|
rs533296054
|
0.00015
|
NM_001558.4(IL10RA):c.1283C>T (p.Pro428Leu)
|
rs752519410
|
0.00015
|
NM_001844.5(COL2A1):c.2854C>A (p.Pro952Thr)
|
rs140740708
|
0.00015
|
NM_001844.5(COL2A1):c.4419C>T (p.Pro1473=)
|
rs775923357
|
0.00015
|
NM_001999.4(FBN2):c.7569G>A (p.Leu2523=)
|
rs375141964
|
0.00015
|
NM_002661.5(PLCG2):c.2739+18C>T
|
rs201215284
|
0.00015
|
NM_003978.5(PSTPIP1):c.355-16C>G
|
rs767272289
|
0.00015
|
NM_006182.4(DDR2):c.932G>A (p.Ser311Asn)
|
rs189870832
|
0.00015
|
NM_006397.3(RNASEH2A):c.550-6C>T
|
rs759687766
|
0.00015
|
NM_024408.4(NOTCH2):c.1635A>G (p.Ala545=)
|
rs193116983
|
0.00015
|
NM_030777.4(SLC2A10):c.1370C>T (p.Ala457Val)
|
rs201393026
|
0.00015
|
NM_030777.4(SLC2A10):c.315C>T (p.Arg105=)
|
rs150800734
|
0.00015
|
NM_031229.4(RBCK1):c.204C>T (p.Thr68=)
|
rs189407509
|
0.00015
|
NM_148919.4(PSMB8):c.804G>A (p.Leu268=)
|
rs371969268
|
0.00015
|
NM_173841.2(IL1RN):c.*1156T>C
|
rs140343304
|
0.00015
|
NM_212482.4(FN1):c.3012G>A (p.Gln1004=)
|
rs142994783
|
0.00015
|
NM_000089.4(COL1A2):c.2836-17C>T
|
rs370073620
|
0.00014
|
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.3964+19A>G
|
rs181287036
|
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.6288C>T (p.Cys2096=)
|
rs144822241
|
0.00014
|
NM_000138.5(FBN1):c.736+9G>A
|
rs368241741
|
0.00014
|
NM_000138.5(FBN1):c.7661G>A (p.Arg2554Gln)
|
rs199522781
|
0.00014
|
NM_000222.3(KIT):c.2502G>A (p.Lys834=)
|
rs146992614
|
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_000302.4(PLOD1):c.1321C>T (p.Arg441Trp)
|
rs11553676
|
0.00014
|
NM_000302.4(PLOD1):c.2028+17C>T
|
rs373318413
|
0.00014
|
NM_000546.6(TP53):c.672+18G>C
|
rs199578278
|
0.00014
|
NM_000628.5(IL10RB):c.131C>T (p.Ala44Val)
|
rs182073431
|
0.00014
|
NM_000628.5(IL10RB):c.647-16C>G
|
rs551931064
|
0.00014
|
NM_000628.5(IL10RB):c.954G>A (p.Pro318=)
|
rs374161818
|
0.00014
|
NM_001032283.3(TMPO):c.565+1469A>G
|
rs147812883
|
0.00014
|
NM_001042492.3(NF1):c.3871-15C>T
|
rs200104394
|
0.00014
|
NM_001065.4(TNFRSF1A):c.147T>C (p.Tyr49=)
|
rs150511666
|
0.00014
|
NM_001111.5(ADAR):c.1725C>T (p.Ala575=)
|
rs144279106
|
0.00014
|
NM_001111.5(ADAR):c.3375C>T (p.Ser1125=)
|
rs774730059
|
0.00014
|
NM_001171.6(ABCC6):c.3363G>A (p.Ser1121=)
|
rs145693403
|
0.00014
|
NM_001243133.2(NLRP3):c.1623G>A (p.Arg541=)
|
rs756547568
|
0.00014
|
NM_001282225.2(ADA2):c.1065C>A (p.Phe355Leu)
|
rs116020027
|
0.00014
|
NM_001366385.1(CARD14):c.1091C>T (p.Ala364Val)
|
rs141698692
|
0.00014
|
NM_001370466.1(NOD2):c.1118C>T (p.Pro373Leu)
|
rs779346494
|
0.00014
|
NM_001370466.1(NOD2):c.1275C>T (p.Ile425=)
|
rs186719861
|
0.00014
|
NM_001370466.1(NOD2):c.1710G>A (p.Ala570=)
|
rs140312093
|
0.00014
|
NM_001370466.1(NOD2):c.2149C>T (p.Arg717Trp)
|
rs140876663
|
0.00014
|
NM_001370466.1(NOD2):c.2389G>A (p.Asp797Asn)
|
rs61755272
|
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_001375808.2(LPIN2):c.1620+16del
|
rs759865446
|
0.00014
|
NM_001611.5(ACP5):c.132G>A (p.Thr44=)
|
rs150582430
|
0.00014
|
NM_001844.5(COL2A1):c.4344T>C (p.Thr1448=)
|
rs200214562
|
0.00014
|
NM_001854.4(COL11A1):c.1522A>G (p.Thr508Ala)
|
rs55851925
|
0.00014
|
NM_001854.4(COL11A1):c.1630-13T>C
|
rs370547604
|
0.00014
|
NM_001972.4(ELANE):c.174C>T (p.Thr58=)
|
rs199714513
|
0.00014
|
NM_001972.4(ELANE):c.428G>A (p.Arg143His)
|
rs200993994
|
0.00014
|
NM_001972.4(ELANE):c.490G>C (p.Gly164Arg)
|
rs112990855
|
0.00014
|
NM_001999.4(FBN2):c.2536G>A (p.Glu846Lys)
|
rs375666281
|
0.00014
|
NM_001999.4(FBN2):c.2801G>A (p.Arg934Gln)
|
rs376194507
|
0.00014
|
NM_001999.4(FBN2):c.4642G>A (p.Val1548Ile)
|
rs140313460
|
0.00014
|
NM_001999.4(FBN2):c.68C>G (p.Ala23Gly)
|
rs199560824
|
0.00014
|
NM_001999.4(FBN2):c.7841-17C>T
|
rs371643668
|
0.00014
|
NM_002474.3(MYH11):c.5160C>T (p.Ser1720=)
|
rs199564260
|
0.00014
|
NM_002474.3(MYH11):c.5516C>T (p.Ala1839Val)
|
rs112948385
|
0.00014
|
NM_002661.5(PLCG2):c.2055-7G>A
|
rs373933998
|
0.00014
|
NM_002661.5(PLCG2):c.2148C>T (p.Leu716=)
|
rs367677388
|
0.00014
|
NM_002661.5(PLCG2):c.688C>T (p.Leu230=)
|
rs373962897
|
0.00014
|
NM_002661.5(PLCG2):c.879C>T (p.Tyr293=)
|
rs368107827
|
0.00014
|
NM_003238.6(TGFB2):c.347-14C>G
|
rs371982231
|
0.00014
|
NM_003978.5(PSTPIP1):c.555C>T (p.Thr185=)
|
rs370782742
|
0.00014
|
NM_004371.4(COPA):c.1077-16C>G
|
rs201918201
|
0.00014
|
NM_004371.4(COPA):c.3147+16C>T
|
rs576052309
|
0.00014
|
NM_005157.6(ABL1):c.2117G>T (p.Gly706Val)
|
rs34634745
|
0.00014
|
NM_006397.3(RNASEH2A):c.200-8C>T
|
rs370810663
|
0.00014
|
NM_006929.5(SKIC2):c.585C>T (p.Asp195=)
|
rs145042380
|
0.00014
|
NM_017617.5(NOTCH1):c.2085C>T (p.Asp695=)
|
rs200573958
|
0.00014
|
NM_022168.4(IFIH1):c.1407T>C (p.Asn469=)
|
rs138740030
|
0.00014
|
NM_023110.3(FGFR1):c.2298C>T (p.Tyr766=)
|
rs376173540
|
0.00014
|
NM_024408.4(NOTCH2):c.4113C>G (p.Pro1371=)
|
rs141657857
|
0.00014
|
NM_054027.6(ANKH):c.1115G>A (p.Arg372Gln)
|
rs544848340
|
0.00014
|
NM_144687.4(NLRP12):c.2904C>T (p.Pro968=)
|
rs747821396
|
0.00014
|
NM_144687.4(NLRP12):c.3081C>T (p.Cys1027=)
|
rs770006186
|
0.00014
|
NM_207122.2(EXT2):c.889C>T (p.Arg297Cys)
|
rs146098187
|
0.00014
|
NM_212482.4(FN1):c.1217-11G>A
|
rs374987974
|
0.00014
|
NM_000138.5(FBN1):c.4748-12T>A
|
rs368723745
|
0.00013
|
NM_000138.5(FBN1):c.6054C>T (p.Val2018=)
|
rs542953863
|
0.00013
|
NM_000138.5(FBN1):c.8232G>A (p.Gln2744=)
|
rs376119827
|
0.00013
|
NM_000302.4(PLOD1):c.644-11C>T
|
rs375303994
|
0.00013
|
NM_000302.4(PLOD1):c.843+10C>T
|
rs149399201
|
0.00013
|
NM_000302.4(PLOD1):c.853C>T (p.Leu285=)
|
rs370663808
|
0.00013
|
NM_000302.4(PLOD1):c.975+14G>A
|
rs371184529
|
0.00013
|
NM_000516.7(GNAS):c.1038+17_1038+20del
|
rs773644530
|
0.00013
|
NM_000516.7(GNAS):c.213-11C>T
|
rs369370389
|
0.00013
|
NM_000628.5(IL10RB):c.123G>A (p.Glu41=)
|
rs140495014
|
0.00013
|
NM_001110556.2(FLNA):c.3522C>T (p.Thr1174=)
|
rs373625856
|
0.00013
|
NM_001111.5(ADAR):c.1934+8C>T
|
rs376025865
|
0.00013
|
NM_001122681.2(SH3BP2):c.1386G>A (p.Thr462=)
|
rs139409304
|
0.00013
|
NM_001122681.2(SH3BP2):c.79G>A (p.Val27Met)
|
rs200207198
|
0.00013
|
NM_001199138.2(NLRC4):c.123T>C (p.Ile41=)
|
rs149360963
|
0.00013
|
NM_001199138.2(NLRC4):c.822G>C (p.Met274Ile)
|
rs140557163
|
0.00013
|
NM_001243133.2(NLRP3):c.249G>A (p.Glu83=)
|
rs375070491
|
0.00013
|
NM_001270508.2(TNFAIP3):c.619A>C (p.Ile207Leu)
|
rs141807543
|
0.00013
|
NM_001282225.2(ADA2):c.147G>A (p.Arg49=)
|
rs146125672
|
0.00013
|
NM_001330360.2(POLA1):c.4383C>T (p.Phe1461=)
|
rs150514156
|
0.00013
|
NM_001370466.1(NOD2):c.1888A>G (p.Ser630Gly)
|
rs150236752
|
0.00013
|
NM_001370466.1(NOD2):c.1898C>G (p.Ala633Gly)
|
rs111400183
|
0.00013
|
NM_001370466.1(NOD2):c.2718-19G>A
|
rs202059016
|
0.00013
|
NM_001370466.1(NOD2):c.622C>T (p.Arg208Cys)
|
rs104895422
|
0.00013
|
NM_001375808.2(LPIN2):c.1794-14C>T
|
rs377387275
|
0.00013
|
NM_001558.4(IL10RA):c.1415G>A (p.Gly472Asp)
|
rs758014559
|
0.00013
|
NM_001754.5(RUNX1):c.952T>G (p.Ser318Ala)
|
rs545554349
|
0.00013
|
NM_001844.5(COL2A1):c.17C>A (p.Ala6Asp)
|
rs369359592
|
0.00013
|
NM_001999.4(FBN2):c.2252A>C (p.Glu751Ala)
|
rs147610681
|
0.00013
|
NM_001999.4(FBN2):c.4902C>T (p.Pro1634=)
|
rs201071253
|
0.00013
|
NM_001999.4(FBN2):c.76A>G (p.Thr26Ala)
|
rs374922166
|
0.00013
|
NM_002609.4(PDGFRB):c.1818C>T (p.Leu606=)
|
rs199649903
|
0.00013
|
NM_002609.4(PDGFRB):c.3204C>T (p.Asp1068=)
|
rs141511317
|
0.00013
|
NM_002661.5(PLCG2):c.1116T>C (p.His372=)
|
rs369732261
|
0.00013
|
NM_002661.5(PLCG2):c.1383A>G (p.Arg461=)
|
rs369098550
|
0.00013
|
NM_002661.5(PLCG2):c.1569T>A (p.Pro523=)
|
rs199708049
|
0.00013
|
NM_002661.5(PLCG2):c.2913C>T (p.Pro971=)
|
rs377752384
|
0.00013
|
NM_002834.5(PTPN11):c.1746C>T (p.Asn582=)
|
rs397516800
|
0.00013
|
NM_003036.4(SKI):c.640A>G (p.Ser214Gly)
|
rs139179843
|
0.00013
|
NM_003242.6(TGFBR2):c.94+16238C>T
|
rs149757320
|
0.00013
|
NM_003977.4(AIP):c.906G>A (p.Val302=)
|
rs142912418
|
0.00013
|
NM_003978.5(PSTPIP1):c.856A>G (p.Asn286Asp)
|
rs377437961
|
0.00013
|
NM_006397.3(RNASEH2A):c.741A>G (p.Lys247=)
|
rs140320292
|
0.00013
|
NM_012275.3(IL36RN):c.30-12C>T
|
rs764444805
|
0.00013
|
NM_017617.5(NOTCH1):c.2206G>A (p.Gly736Arg)
|
rs201662530
|
0.00013
|
NM_020779.4(WDR35):c.765C>T (p.Tyr255=)
|
rs117255034
|
0.00013
|
NM_022168.4(IFIH1):c.1797T>C (p.Val599=)
|
rs751095720
|
0.00013
|
NM_024408.4(NOTCH2):c.4929G>A (p.Thr1643=)
|
rs587697719
|
0.00013
|
NM_024408.4(NOTCH2):c.6362A>G (p.Lys2121Arg)
|
rs148393324
|
0.00013
|
NM_024529.5(CDC73):c.*2427T>C
|
rs372585994
|
0.00013
|
NM_144687.4(NLRP12):c.2600G>A (p.Arg867His)
|
rs140731275
|
0.00013
|
NM_144687.4(NLRP12):c.2748G>A (p.Gln916=)
|
rs368633277
|
0.00013
|
NM_144687.4(NLRP12):c.2895G>A (p.Leu965=)
|
rs369220717
|
0.00013
|
NM_000089.4(COL1A2):c.2566-6A>G
|
rs141088934
|
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_000138.5(FBN1):c.6576C>T (p.Cys2192=)
|
rs369058466
|
0.00012
|
NM_000302.4(PLOD1):c.1182G>C (p.Arg394=)
|
rs144439284
|
0.00012
|
NM_000302.4(PLOD1):c.2181C>T (p.Pro727=)
|
rs140741046
|
0.00012
|
NM_000435.3(NOTCH3):c.135C>T (p.Asp45=)
|
rs370177269
|
0.00012
|
NM_001042492.3(NF1):c.5322G>A (p.Gly1774=)
|
rs201584313
|
0.00012
|
NM_001122681.2(SH3BP2):c.1385C>T (p.Thr462Met)
|
rs201536400
|
0.00012
|
NM_001199138.2(NLRC4):c.126C>T (p.Cys42=)
|
rs199789168
|
0.00012
|
NM_001243133.2(NLRP3):c.1079T>A (p.Leu360Gln)
|
rs201593863
|
0.00012
|
NM_001370466.1(NOD2):c.232G>A (p.Ala78Thr)
|
rs113706344
|
0.00012
|
NM_001375808.2(LPIN2):c.2535A>C (p.Gly845=)
|
rs186864136
|
0.00012
|
NM_001457.4(FLNB):c.2931G>A (p.Leu977=)
|
rs574484752
|
0.00012
|
NM_001844.5(COL2A1):c.550G>A (p.Ala184Thr)
|
rs201817670
|
0.00012
|
NM_001999.4(FBN2):c.2469C>T (p.Asn823=)
|
rs770997817
|
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.6334A>G (p.Lys2112Glu)
|
rs141707850
|
0.00012
|
NM_001999.4(FBN2):c.8192+8G>A
|
rs184132548
|
0.00012
|
NM_002661.5(PLCG2):c.1557+14C>G
|
rs372814853
|
0.00012
|
NM_002661.5(PLCG2):c.2631G>C (p.Glu877Asp)
|
rs200677528
|
0.00012
|
NM_003036.4(SKI):c.1315G>A (p.Val439Ile)
|
rs575093513
|
0.00012
|
NM_003183.6(ADAM17):c.2280C>T (p.Asp760=)
|
rs371018540
|
0.00012
|
NM_003183.6(ADAM17):c.321C>T (p.Tyr107=)
|
rs576734742
|
0.00012
|
NM_003238.6(TGFB2):c.648G>A (p.Arg216=)
|
rs767503001
|
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_004364.5(CEBPA):c.558G>A (p.Pro186=)
|
rs1338027134
|
0.00012
|
NM_004371.4(COPA):c.155-19T>C
|
rs202155952
|
0.00012
|
NM_005373.3(MPL):c.690+11C>T
|
rs144769485
|
0.00012
|
NM_006397.3(RNASEH2A):c.127+14G>T
|
rs758619313
|
0.00012
|
NM_015474.4(SAMHD1):c.1393C>A (p.Gln465Lys)
|
rs142393072
|
0.00012
|
NM_017617.5(NOTCH1):c.4179C>T (p.Gly1393=)
|
rs200664704
|
0.00012
|
NM_022168.4(IFIH1):c.2133A>G (p.Gln711=)
|
rs368922101
|
0.00012
|
NM_024408.4(NOTCH2):c.5871G>A (p.Glu1957=)
|
rs587718458
|
0.00012
|
NM_024408.4(NOTCH2):c.786T>C (p.Asp262=)
|
rs374224226
|
0.00012
|
NM_024529.5(CDC73):c.840G>A (p.Leu280=)
|
rs10921320
|
0.00012
|
NM_030777.4(SLC2A10):c.1571G>A (p.Arg524Lys)
|
rs370141550
|
0.00012
|
NM_080680.3(COL11A2):c.813C>T (p.Leu271=)
|
rs143505163
|
0.00012
|
NM_212482.4(FN1):c.6158-7C>T
|
rs372760499
|
0.00012
|
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.1838-6C>T
|
rs374629233
|
0.00011
|
NM_000138.5(FBN1):c.2289C>T (p.Cys763=)
|
rs181311020
|
0.00011
|
NM_000138.5(FBN1):c.3964+12C>T
|
rs371986991
|
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_000302.4(PLOD1):c.1608C>T (p.His536=)
|
rs138289419
|
0.00011
|
NM_000302.4(PLOD1):c.678G>A (p.Val226=)
|
rs371007185
|
0.00011
|
NM_000431.4(MVK):c.975C>T (p.Arg325=)
|
rs748947620
|
0.00011
|
NM_000435.3(NOTCH3):c.6809C>T (p.Thr2270Met)
|
rs148716935
|
0.00011
|
NM_001006657.2(WDR35):c.1215A>G (p.Thr405=)
|
rs144673252
|
0.00011
|
NM_001042492.3(NF1):c.1005T>C (p.Asn335=)
|
rs777369021
|
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_001065.4(TNFRSF1A):c.459C>T (p.Thr153=)
|
rs199792034
|
0.00011
|
NM_001065.4(TNFRSF1A):c.596T>C (p.Ile199Thr)
|
rs104895247
|
0.00011
|
NM_001110556.2(FLNA):c.1828+3A>G
|
rs368041880
|
0.00011
|
NM_001111.5(ADAR):c.2274C>T (p.Phe758=)
|
rs149039619
|
0.00011
|
NM_001111.5(ADAR):c.2952A>G (p.Thr984=)
|
rs765649485
|
0.00011
|
NM_001122681.2(SH3BP2):c.81G>A (p.Val27=)
|
rs745515987
|
0.00011
|
NM_001171.6(ABCC6):c.3795C>T (p.Ile1265=)
|
rs114175094
|
0.00011
|
NM_001199138.2(NLRC4):c.2883T>C (p.Phe961=)
|
rs747016637
|
0.00011
|
NM_001243133.2(NLRP3):c.282A>T (p.Ser94=)
|
rs374949230
|
0.00011
|
NM_001243133.2(NLRP3):c.906C>T (p.Phe302=)
|
rs756989752
|
0.00011
|
NM_001282225.2(ADA2):c.754-15G>A
|
rs376045931
|
0.00011
|
NM_001366385.1(CARD14):c.35C>T (p.Thr12Met)
|
rs569889639
|
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.45C>T (p.Val15=)
|
rs766815592
|
0.00011
|
NM_001375808.2(LPIN2):c.2088-7T>G
|
rs199713353
|
0.00011
|
NM_001375808.2(LPIN2):c.2371C>T (p.Leu791=)
|
rs373520277
|
0.00011
|
NM_001613.4(ACTA2):c.606C>T (p.Phe202=)
|
rs143771352
|
0.00011
|
NM_001754.5(RUNX1):c.1005G>T (p.Gln335His)
|
rs80314254
|
0.00011
|
NM_001852.4(COL9A2):c.2036G>A (p.Arg679His)
|
rs199897562
|
0.00011
|
NM_001853.4(COL9A3):c.1245C>A (p.Gly415=)
|
rs73598379
|
0.00011
|
NM_001999.4(FBN2):c.2108G>A (p.Arg703His)
|
rs567790419
|
0.00011
|
NM_001999.4(FBN2):c.2989+20G>A
|
rs374450061
|
0.00011
|
NM_001999.4(FBN2):c.4311C>T (p.Ser1437=)
|
rs138665246
|
0.00011
|
NM_002609.4(PDGFRB):c.1114G>A (p.Val372Met)
|
rs371975483
|
0.00011
|
NM_002609.4(PDGFRB):c.1520G>A (p.Arg507His)
|
rs145823245
|
0.00011
|
NM_002661.5(PLCG2):c.2054+9G>A
|
rs375713675
|
0.00011
|
NM_002661.5(PLCG2):c.3396G>A (p.Leu1132=)
|
rs201475640
|
0.00011
|
NM_002661.5(PLCG2):c.766-20G>A
|
rs371319058
|
0.00011
|
NM_002834.5(PTPN11):c.1224+15G>A
|
rs373271861
|
0.00011
|
NM_002834.5(PTPN11):c.558G>T (p.Arg186=)
|
rs200920312
|
0.00011
|
NM_003036.4(SKI):c.105G>A (p.Pro35=)
|
rs778180778
|
0.00011
|
NM_003036.4(SKI):c.1309G>A (p.Ala437Thr)
|
rs544709718
|
0.00011
|
NM_003036.4(SKI):c.1329C>T (p.Pro443=)
|
rs150033567
|
0.00011
|
NM_003036.4(SKI):c.1632C>T (p.His544=)
|
rs373914574
|
0.00011
|
NM_003036.4(SKI):c.970-5C>T
|
rs755318392
|
0.00011
|
NM_003238.6(TGFB2):c.297C>T (p.Tyr99=)
|
rs760759052
|
0.00011
|
NM_003978.5(PSTPIP1):c.1116G>A (p.Ala372=)
|
rs369835681
|
0.00011
|
NM_004371.4(COPA):c.1292G>A (p.Arg431Gln)
|
rs199634303
|
0.00011
|
NM_004371.4(COPA):c.2754+15A>G
|
rs369096293
|
0.00011
|
NM_006397.3(RNASEH2A):c.199+8C>G
|
rs200834484
|
0.00011
|
NM_006397.3(RNASEH2A):c.366T>G (p.Thr122=)
|
rs752467571
|
0.00011
|
NM_006397.3(RNASEH2A):c.36C>T (p.Gly12=)
|
rs375139492
|
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_017617.5(NOTCH1):c.6057C>T (p.Ala2019=)
|
rs758702512
|
0.00011
|
NM_018699.4(PRDM5):c.1282+9C>T
|
rs79915407
|
0.00011
|
NM_020800.3(IFT80):c.879C>T (p.Val293=)
|
rs143660757
|
0.00011
|
NM_022168.4(IFIH1):c.1096-13A>G
|
rs368712508
|
0.00011
|
NM_022168.4(IFIH1):c.1793G>A (p.Arg598His)
|
rs200945986
|
0.00011
|
NM_022168.4(IFIH1):c.2807+20T>C
|
rs370508451
|
0.00011
|
NM_024408.4(NOTCH2):c.5276T>C (p.Val1759Ala)
|
rs373166152
|
0.00011
|
NM_024408.4(NOTCH2):c.6957G>A (p.Ala2319=)
|
rs369891453
|
0.00011
|
NM_024570.4(RNASEH2B):c.564G>C (p.Arg188=)
|
rs141367253
|
0.00011
|
NM_030777.4(SLC2A10):c.1547+19G>A
|
rs546525339
|
0.00011
|
NM_033360.4(KRAS):c.90C>T (p.Asp30=)
|
rs113623140
|
0.00011
|
NM_144687.4(NLRP12):c.1662C>T (p.Ser554=)
|
rs147716122
|
0.00011
|
NM_144687.4(NLRP12):c.2340C>T (p.Asn780=)
|
rs371264069
|
0.00011
|
NM_144687.4(NLRP12):c.2761G>C (p.Gly921Arg)
|
rs199980950
|
0.00011
|
NM_144687.4(NLRP12):c.3000G>C (p.Leu1000Phe)
|
rs201437704
|
0.00011
|
NM_144687.4(NLRP12):c.552G>A (p.Ala184=)
|
rs367744369
|
0.00011
|
NM_173842.3(IL1RN):c.529G>A (p.Glu177Lys)
|
rs114929884
|
0.00011
|
NM_198253.3(TERT):c.2079C>T (p.Phe693=)
|
rs371759577
|
0.00011
|
NM_198282.4(STING1):c.48C>T (p.His16=)
|
rs201271148
|
0.00011
|
NM_198282.4(STING1):c.946+12G>A
|
rs371277040
|
0.00011
|
NM_207122.2(EXT2):c.*129C>G
|
rs141864253
|
0.00011
|
NM_207122.2(EXT2):c.*139C>G
|
rs191451519
|
0.00011
|
NM_207122.2(EXT2):c.1407C>T (p.Leu469=)
|
rs148753786
|
0.00011
|
NM_212482.4(FN1):c.5977+7A>G
|
rs373840022
|
0.00011
|
NM_212482.4(FN1):c.6459G>A (p.Pro2153=)
|
rs372396685
|
0.00011
|
NM_000081.4(LYST):c.5374A>G (p.Asn1792Asp)
|
rs143696500
|
0.00010
|
NM_000127.3(EXT1):c.1284+25G>A
|
rs375754024
|
0.00010
|
NM_000127.3(EXT1):c.1430C>G (p.Pro477Arg)
|
rs145720047
|
0.00010
|
NM_000138.5(FBN1):c.2094G>T (p.Pro698=)
|
rs144775475
|
0.00010
|
NM_000138.5(FBN1):c.3082+9T>A
|
rs746303949
|
0.00010
|
NM_000243.3(MEFV):c.972C>T (p.Asp324=)
|
rs140776637
|
0.00010
|
NM_000431.4(MVK):c.789C>G (p.Pro263=)
|
rs146181903
|
0.00010
|
NM_000435.3(NOTCH3):c.4560G>T (p.Pro1520=)
|
rs370010007
|
0.00010
|
NM_001042492.3(NF1):c.2541T>C (p.Leu847=)
|
rs147433258
|
0.00010
|
NM_001065.4(TNFRSF1A):c.249G>A (p.Glu83=)
|
rs104895265
|
0.00010
|
NM_001110556.2(FLNA):c.7221C>T (p.Asn2407=)
|
rs782129907
|
0.00010
|
NM_001111.5(ADAR):c.222G>A (p.Arg74=)
|
rs150423721
|
0.00010
|
NM_001111.5(ADAR):c.2886-10T>C
|
rs771848908
|
0.00010
|
NM_001122681.2(SH3BP2):c.1395C>T (p.Cys465=)
|
rs150049888
|
0.00010
|
NM_001243133.2(NLRP3):c.1200C>T (p.Asn400=)
|
rs202094185
|
0.00010
|
NM_001243133.2(NLRP3):c.2492+7C>T
|
rs200534219
|
0.00010
|
NM_001243133.2(NLRP3):c.2493-8T>A
|
rs199858933
|
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_001352005.2(NTM):c.527-4G>A
|
rs375999981
|
0.00010
|
NM_001370466.1(NOD2):c.1608C>T (p.Tyr536=)
|
rs111608429
|
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_001370466.1(NOD2):c.544C>T (p.Pro182Ser)
|
rs143080077
|
0.00010
|
NM_001375808.2(LPIN2):c.1268+13T>C
|
rs371589907
|
0.00010
|
NM_001375808.2(LPIN2):c.2327+14A>G
|
rs370048111
|
0.00010
|
NM_001375808.2(LPIN2):c.2658G>A (p.Pro886=)
|
rs371358114
|
0.00010
|
NM_001611.5(ACP5):c.15G>T (p.Thr5=)
|
rs772911511
|
0.00010
|
NM_001754.5(RUNX1):c.1252A>G (p.Met418Val)
|
rs578042376
|
0.00010
|
NM_001999.4(FBN2):c.2249-15C>A
|
rs759195113
|
0.00010
|
NM_001999.4(FBN2):c.2717G>A (p.Arg906His)
|
rs370973542
|
0.00010
|
NM_001999.4(FBN2):c.3217+13G>A
|
rs572013507
|
0.00010
|
NM_001999.4(FBN2):c.3472+17C>A
|
rs747730357
|
0.00010
|
NM_001999.4(FBN2):c.6833C>T (p.Thr2278Met)
|
rs2307109
|
0.00010
|
NM_001999.4(FBN2):c.8193-6A>G
|
rs371741283
|
0.00010
|
NM_001999.4(FBN2):c.8691G>A (p.Gly2897=)
|
rs184109554
|
0.00010
|
NM_002474.3(MYH11):c.585G>A (p.Leu195=)
|
rs146695946
|
0.00010
|
NM_002609.4(PDGFRB):c.2960G>A (p.Arg987Gln)
|
rs35731372
|
0.00010
|
NM_002609.4(PDGFRB):c.2972G>A (p.Arg991His)
|
rs75748462
|
0.00010
|
NM_002661.5(PLCG2):c.1278C>T (p.Gly426=)
|
rs199514190
|
0.00010
|
NM_002661.5(PLCG2):c.2898C>T (p.Ile966=)
|
rs61749046
|
0.00010
|
NM_003036.4(SKI):c.2141G>A (p.Arg714His)
|
rs754486257
|
0.00010
|
NM_003239.5(TGFB3):c.873G>A (p.Pro291=)
|
rs370006165
|
0.00010
|
NM_003242.6(TGFBR2):c.367A>T (p.Met123Leu)
|
rs768385200
|
0.00010
|
NM_003978.5(PSTPIP1):c.1120-20G>A
|
rs200256020
|
0.00010
|
NM_005902.4(SMAD3):c.207-13C>T
|
rs200548744
|
0.00010
|
NM_005902.4(SMAD3):c.457C>T (p.Leu153=)
|
rs145380987
|
0.00010
|
NM_006397.3(RNASEH2A):c.128-13C>T
|
rs201345414
|
0.00010
|
NM_017617.5(NOTCH1):c.1670-18G>A
|
rs375041394
|
0.00010
|
NM_017617.5(NOTCH1):c.6744C>T (p.Asn2248=)
|
rs372771288
|
0.00010
|
NM_022168.4(IFIH1):c.1312T>C (p.Ser438Pro)
|
rs139714761
|
0.00010
|
NM_022168.4(IFIH1):c.2198C>T (p.Ala733Val)
|
rs200251981
|
0.00010
|
NM_022168.4(IFIH1):c.2316A>T (p.Lys772Asn)
|
rs761635157
|
0.00010
|
NM_022168.4(IFIH1):c.2317del (p.Glu773fs)
|
rs746375033
|
0.00010
|
NM_022168.4(IFIH1):c.2861A>G (p.Tyr954Cys)
|
rs116508532
|
0.00010
|
NM_022168.4(IFIH1):c.906G>A (p.Pro302=)
|
rs775441863
|
0.00010
|
NM_023110.3(FGFR1):c.2331C>G (p.Ser777=)
|
rs763571736
|
0.00010
|
NM_024408.4(NOTCH2):c.2196A>C (p.Gly732=)
|
rs782101275
|
0.00010
|
NM_024529.5(CDC73):c.*2677G>A
|
rs192018514
|
0.00010
|
NM_024570.4(RNASEH2B):c.549G>A (p.Val183=)
|
rs760862553
|
0.00010
|
NM_030777.4(SLC2A10):c.330C>T (p.Phe110=)
|
rs199848479
|
0.00010
|
NM_031229.4(RBCK1):c.746A>G (p.Gln249Arg)
|
rs763971799
|
0.00010
|
NM_033629.6(TREX1):c.312G>C (p.Leu104=)
|
rs56162833
|
0.00010
|
NM_080680.3(COL11A2):c.1817C>T (p.Ser606Leu)
|
rs147328015
|
0.00010
|
NM_144687.4(NLRP12):c.1820A>C (p.Gln607Pro)
|
rs370229918
|
0.00010
|
NM_144687.4(NLRP12):c.986G>A (p.Arg329Gln)
|
rs144287432
|
0.00010
|
NM_207122.2(EXT2):c.1916C>T (p.Thr639Met)
|
rs138722406
|
0.00010
|
NM_212482.4(FN1):c.5051-9C>A
|
rs376036111
|
0.00010
|
NM_000093.5(COL5A1):c.1283C>T (p.Ser428Leu)
|
rs770793962
|
0.00009
|
NM_000093.5(COL5A1):c.3691-9T>C
|
rs187584029
|
0.00009
|
NM_000093.5(COL5A1):c.3744+19C>T
|
rs200498760
|
0.00009
|
NM_000127.3(EXT1):c.1674A>G (p.Thr558=)
|
rs202051061
|
0.00009
|
NM_000127.3(EXT1):c.963-16C>T
|
rs369462786
|
0.00009
|
NM_000138.5(FBN1):c.1588+20C>T
|
rs376488308
|
0.00009
|
NM_000138.5(FBN1):c.2232G>C (p.Gly744=)
|
rs762745991
|
0.00009
|
NM_000138.5(FBN1):c.3337+11G>A
|
rs368726848
|
0.00009
|
NM_000138.5(FBN1):c.396T>C (p.Asp132=)
|
rs147481356
|
0.00009
|
NM_000138.5(FBN1):c.4342G>A (p.Asp1448Asn)
|
rs371377334
|
0.00009
|
NM_000138.5(FBN1):c.5225-13T>G
|
rs367786211
|
0.00009
|
NM_000138.5(FBN1):c.5296+12C>T
|
rs566030960
|
0.00009
|
NM_000138.5(FBN1):c.7266A>G (p.Arg2422=)
|
rs532737688
|
0.00009
|
NM_000138.5(FBN1):c.7846A>G (p.Ile2616Val)
|
rs143677764
|
0.00009
|
NM_000138.5(FBN1):c.942A>G (p.Lys314=)
|
rs376965275
|
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.1203-3C>T
|
rs376288573
|
0.00009
|
NM_000388.4(CASR):c.1788C>T (p.Thr596=)
|
rs142778221
|
0.00009
|
NM_000388.4(CASR):c.2844G>A (p.Leu948=)
|
rs140586950
|
0.00009
|
NM_000431.4(MVK):c.591C>T (p.His197=)
|
rs104895329
|
0.00009
|
NM_000546.6(TP53):c.847C>T (p.Arg283Cys)
|
rs149633775
|
0.00009
|
NM_001065.4(TNFRSF1A):c.887G>C (p.Ser296Thr)
|
rs770324989
|
0.00009
|
NM_001111.5(ADAR):c.1392T>C (p.Asn464=)
|
rs370763473
|
0.00009
|
NM_001122681.2(SH3BP2):c.1481C>T (p.Ser494Leu)
|
rs377411211
|
0.00009
|
NM_001122681.2(SH3BP2):c.1665C>T (p.Tyr555=)
|
rs368135013
|
0.00009
|
NM_001171.6(ABCC6):c.3024G>A (p.Ala1008=)
|
rs372041663
|
0.00009
|
NM_001171.6(ABCC6):c.345+10C>T
|
rs768002646
|
0.00009
|
NM_001199138.2(NLRC4):c.915_943del (p.Gln306fs)
|
rs764773982
|
0.00009
|
NM_001243133.2(NLRP3):c.2120C>A (p.Pro707Gln)
|
rs200378519
|
0.00009
|
NM_001243133.2(NLRP3):c.3005+7G>A
|
rs200659209
|
0.00009
|
NM_001282225.2(ADA2):c.687C>T (p.Phe229=)
|
rs2231488
|
0.00009
|
NM_001370466.1(NOD2):c.-7T>C
|
rs371044393
|
0.00009
|
NM_001370466.1(NOD2):c.1965G>T (p.Leu655Phe)
|
rs149002807
|
0.00009
|
NM_001370466.1(NOD2):c.2177G>A (p.Arg726Gln)
|
rs774888496
|
0.00009
|
NM_001370466.1(NOD2):c.2979G>A (p.Gly993=)
|
rs374689495
|
0.00009
|
NM_001558.4(IL10RA):c.1452G>A (p.Glu484=)
|
rs139576148
|
0.00009
|
NM_001558.4(IL10RA):c.723C>T (p.Ala241=)
|
rs141256167
|
0.00009
|
NM_001851.6(COL9A1):c.674A>T (p.Asp225Val)
|
rs186444567
|
0.00009
|
NM_001999.4(FBN2):c.3296G>A (p.Arg1099His)
|
rs202050092
|
0.00009
|
NM_001999.4(FBN2):c.3655A>G (p.Met1219Val)
|
rs201288931
|
0.00009
|
NM_001999.4(FBN2):c.3742A>G (p.Ile1248Val)
|
rs144933639
|
0.00009
|
NM_001999.4(FBN2):c.4763A>T (p.Asp1588Val)
|
rs202218356
|
0.00009
|
NM_001999.4(FBN2):c.5275A>C (p.Lys1759Gln)
|
rs201113098
|
0.00009
|
NM_001999.4(FBN2):c.5549-18G>A
|
rs371995872
|
0.00009
|
NM_001999.4(FBN2):c.7497G>A (p.Pro2499=)
|
rs756747736
|
0.00009
|
NM_001999.4(FBN2):c.8239C>G (p.Leu2747Val)
|
rs145353444
|
0.00009
|
NM_001999.4(FBN2):c.8289C>T (p.Tyr2763=)
|
rs190292877
|
0.00009
|
NM_001999.4(FBN2):c.8376C>G (p.Ile2792Met)
|
rs142747169
|
0.00009
|
NM_002474.3(MYH11):c.3293+6G>A
|
rs370658839
|
0.00009
|
NM_002609.4(PDGFRB):c.2058C>T (p.Tyr686=)
|
rs753622898
|
0.00009
|
NM_002661.5(PLCG2):c.2073G>A (p.Lys691=)
|
rs377223625
|
0.00009
|
NM_002661.5(PLCG2):c.3015C>T (p.Cys1005=)
|
rs374501993
|
0.00009
|
NM_003036.4(SKI):c.1164G>A (p.Ala388=)
|
rs780171614
|
0.00009
|
NM_003036.4(SKI):c.1269G>A (p.Pro423=)
|
rs375600617
|
0.00009
|
NM_003036.4(SKI):c.1568C>T (p.Ser523Leu)
|
rs730880212
|
0.00009
|
NM_003036.4(SKI):c.897C>T (p.Arg299=)
|
rs773901705
|
0.00009
|
NM_003183.6(ADAM17):c.2133+13T>C
|
rs377163769
|
0.00009
|
NM_003183.6(ADAM17):c.619+7C>T
|
rs200004510
|
0.00009
|
NM_003239.5(TGFB3):c.558C>T (p.Ile186=)
|
rs138389291
|
0.00009
|
NM_003978.5(PSTPIP1):c.1014C>T (p.Pro338=)
|
rs368838637
|
0.00009
|
NM_003978.5(PSTPIP1):c.1018C>T (p.Arg340Trp)
|
rs377214787
|
0.00009
|
NM_003978.5(PSTPIP1):c.1182T>C (p.Asp394=)
|
rs199804922
|
0.00009
|
NM_003978.5(PSTPIP1):c.429A>T (p.Thr143=)
|
rs1141040
|
0.00009
|
NM_003978.5(PSTPIP1):c.517-4T>C
|
rs571529866
|
0.00009
|
NM_003978.5(PSTPIP1):c.5T>C (p.Met2Thr)
|
rs541085532
|
0.00009
|
NM_003978.5(PSTPIP1):c.930-14C>T
|
rs200876675
|
0.00009
|
NM_004364.5(CEBPA):c.396C>T (p.Gly132=)
|
rs1060504475
|
0.00009
|
NM_004364.5(CEBPA):c.81C>T (p.Ser27=)
|
rs111662895
|
0.00009
|
NM_004364.5(CEBPA):c.942G>T (p.Val314=)
|
rs377329266
|
0.00009
|
NM_004371.4(COPA):c.2749A>G (p.Thr917Ala)
|
rs751116790
|
0.00009
|
NM_004371.4(COPA):c.778C>T (p.Arg260Cys)
|
rs773636602
|
0.00009
|
NM_004612.4(TGFBR1):c.*3704A>G
|
rs563433922
|
0.00009
|
NM_004612.4(TGFBR1):c.*3830T>C
|
rs186157987
|
0.00009
|
NM_005188.4(CBL):c.873T>C (p.Tyr291=)
|
rs756526812
|
0.00009
|
NM_005373.3(MPL):c.1467C>T (p.Thr489=)
|
rs759161511
|
0.00009
|
NM_005373.3(MPL):c.1803C>T (p.Thr601=)
|
rs140794721
|
0.00009
|
NM_005902.4(SMAD3):c.*51G>C
|
rs368655036
|
0.00009
|
NM_012275.3(IL36RN):c.244-6C>T
|
rs374849220
|
0.00009
|
NM_015474.4(SAMHD1):c.1320C>T (p.Asp440=)
|
rs371992324
|
0.00009
|
NM_015474.4(SAMHD1):c.696+14C>T
|
rs145884935
|
0.00009
|
NM_022168.4(IFIH1):c.2138C>G (p.Thr713Ser)
|
rs201841403
|
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.921T>C (p.Tyr307=)
|
rs377010221
|
0.00009
|
NM_024408.4(NOTCH2):c.1554C>T (p.Cys518=)
|
rs138817140
|
0.00009
|
NM_024408.4(NOTCH2):c.1681+9C>A
|
rs192886452
|
0.00009
|
NM_024408.4(NOTCH2):c.6477G>A (p.Thr2159=)
|
rs145566650
|
0.00009
|
NM_024408.4(NOTCH2):c.6945T>C (p.Ile2315=)
|
rs771232139
|
0.00009
|
NM_024408.4(NOTCH2):c.7038C>G (p.Ala2346=)
|
rs148846611
|
0.00009
|
NM_033629.6(TREX1):c.623G>C (p.Cys208Ser)
|
rs146524913
|
0.00009
|
NM_054027.6(ANKH):c.1338C>T (p.Ile446=)
|
rs756749018
|
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.2831G>A (p.Arg944Gln)
|
rs200742741
|
0.00009
|
NM_148919.4(PSMB8):c.295+12C>T
|
rs375825728
|
0.00009
|
NM_199242.3(UNC13D):c.154-8T>A
|
rs369433391
|
0.00009
|
NM_212482.4(FN1):c.3492G>A (p.Ala1164=)
|
rs548899134
|
0.00009
|
NM_000038.6(APC):c.573T>C (p.Tyr191=)
|
rs185154886
|
0.00008
|
NM_000093.5(COL5A1):c.3852+9C>T
|
rs548696863
|
0.00008
|
NM_000138.5(FBN1):c.2079G>A (p.Gly693=)
|
rs374174497
|
0.00008
|
NM_000138.5(FBN1):c.2928C>T (p.Arg976=)
|
rs761997019
|
0.00008
|
NM_000138.5(FBN1):c.3171C>T (p.Ser1057=)
|
rs144400069
|
0.00008
|
NM_000138.5(FBN1):c.3226A>C (p.Ile1076Leu)
|
rs201156527
|
0.00008
|
NM_000138.5(FBN1):c.3429C>A (p.Gly1143=)
|
rs151232024
|
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_000142.5(FGFR3):c.707G>A (p.Ser236Asn)
|
rs200495316
|
0.00008
|
NM_000243.3(MEFV):c.765A>G (p.Ala255=)
|
rs771714168
|
0.00008
|
NM_000302.4(PLOD1):c.643+15C>T
|
rs376661744
|
0.00008
|
NM_000628.5(IL10RB):c.49+8G>T
|
rs889875247
|
0.00008
|
NM_001032283.3(TMPO):c.565+2387G>A
|
rs201034441
|
0.00008
|
NM_001065.4(TNFRSF1A):c.473-16G>A
|
rs104895251
|
0.00008
|
NM_001110556.2(FLNA):c.2313G>A (p.Lys771=)
|
rs782741007
|
0.00008
|
NM_001111.5(ADAR):c.2976C>T (p.Phe992=)
|
rs552926126
|
0.00008
|
NM_001122681.2(SH3BP2):c.1294C>T (p.Arg432Trp)
|
rs373894173
|
0.00008
|
NM_001122681.2(SH3BP2):c.1489-15G>A
|
rs375344873
|
0.00008
|
NM_001122681.2(SH3BP2):c.867C>T (p.Pro289=)
|
rs151102529
|
0.00008
|
NM_001122681.2(SH3BP2):c.894G>A (p.Arg298=)
|
rs547957534
|
0.00008
|
NM_001199138.2(NLRC4):c.1545C>T (p.His515=)
|
rs756754650
|
0.00008
|
NM_001199138.2(NLRC4):c.262+12T>G
|
rs770802764
|
0.00008
|
NM_001282225.2(ADA2):c.903C>T (p.Ile301=)
|
rs768133814
|
0.00008
|
NM_001366385.1(CARD14):c.1653G>A (p.Ser551=)
|
rs369746581
|
0.00008
|
NM_001370466.1(NOD2):c.1745T>G (p.Phe582Cys)
|
rs777798807
|
0.00008
|
NM_001370466.1(NOD2):c.402C>T (p.Phe134=)
|
rs565504727
|
0.00008
|
NM_001370466.1(NOD2):c.494C>T (p.Ala165Val)
|
rs149071116
|
0.00008
|
NM_001375808.2(LPIN2):c.1395C>T (p.Asp465=)
|
rs143562359
|
0.00008
|
NM_001375808.2(LPIN2):c.1821C>T (p.Asp607=)
|
rs548432470
|
0.00008
|
NM_001558.4(IL10RA):c.1197T>C (p.Asp399=)
|
rs34400047
|
0.00008
|
NM_001558.4(IL10RA):c.741C>T (p.Ser247=)
|
rs745955474
|
0.00008
|
NM_001754.5(RUNX1):c.492C>T (p.Val164=)
|
rs200907577
|
0.00008
|
NM_001999.4(FBN2):c.*234T>C
|
rs375135682
|
0.00008
|
NM_001999.4(FBN2):c.3518C>G (p.Thr1173Ser)
|
rs199678757
|
0.00008
|
NM_001999.4(FBN2):c.5637C>T (p.Ala1879=)
|
rs367620361
|
0.00008
|
NM_001999.4(FBN2):c.6597A>G (p.Pro2199=)
|
rs150305429
|
0.00008
|
NM_001999.4(FBN2):c.7212C>T (p.Leu2404=)
|
rs368506842
|
0.00008
|
NM_001999.4(FBN2):c.8124C>T (p.Tyr2708=)
|
rs201634501
|
0.00008
|
NM_002609.4(PDGFRB):c.42C>T (p.Gly14=)
|
rs145316660
|
0.00008
|
NM_002661.5(PLCG2):c.1086C>T (p.Asp362=)
|
rs375876385
|
0.00008
|
NM_002661.5(PLCG2):c.12G>A (p.Thr4=)
|
rs376949064
|
0.00008
|
NM_002661.5(PLCG2):c.2581+10C>G
|
rs367866295
|
0.00008
|
NM_003036.4(SKI):c.1109T>C (p.Val370Ala)
|
rs138088528
|
0.00008
|
NM_003036.4(SKI):c.170C>T (p.Ala57Val)
|
rs1389185868
|
0.00008
|
NM_003183.6(ADAM17):c.204A>G (p.Thr68=)
|
rs567931151
|
0.00008
|
NM_003183.6(ADAM17):c.97+18T>C
|
rs375582202
|
0.00008
|
NM_003239.5(TGFB3):c.101A>G (p.His34Arg)
|
rs199791687
|
0.00008
|
NM_003978.5(PSTPIP1):c.-124C>T
|
rs760819203
|
0.00008
|
NM_004371.4(COPA):c.1977+12A>G
|
rs377517481
|
0.00008
|
NM_004371.4(COPA):c.2566+6A>G
|
rs182598190
|
0.00008
|
NM_004371.4(COPA):c.34G>A (p.Val12Ile)
|
rs201864262
|
0.00008
|
NM_004944.4(DNASE1L3):c.433+15G>A
|
rs376623875
|
0.00008
|
NM_005188.4(CBL):c.2349C>T (p.Ala783=)
|
rs552509693
|
0.00008
|
NM_005373.3(MPL):c.1650C>T (p.Ser550=)
|
rs377715574
|
0.00008
|
NM_006182.4(DDR2):c.2068A>G (p.Met690Val)
|
rs377626332
|
0.00008
|
NM_015474.4(SAMHD1):c.697-13T>C
|
rs368766286
|
0.00008
|
NM_018699.4(PRDM5):c.300+17C>T
|
rs376707809
|
0.00008
|
NM_022168.4(IFIH1):c.1041A>C (p.Leu347Phe)
|
rs183412282
|
0.00008
|
NM_023110.3(FGFR1):c.1888C>T (p.Leu630=)
|
rs746123129
|
0.00008
|
NM_024408.4(NOTCH2):c.4041A>G (p.Gly1347=)
|
rs753043164
|
0.00008
|
NM_030777.4(SLC2A10):c.1344C>T (p.Phe448=)
|
rs553831434
|
0.00008
|
NM_030777.4(SLC2A10):c.162G>C (p.Leu54=)
|
rs778830075
|
0.00008
|
NM_032193.4(RNASEH2C):c.349-12C>G
|
rs368723275
|
0.00008
|
NM_033629.6(TREX1):c.486G>A (p.Leu162=)
|
rs55786737
|
0.00008
|
NM_080425.4(GNAS):c.913T>C (p.Ser305Pro)
|
rs376517306
|
0.00008
|
NM_144687.4(NLRP12):c.1790G>A (p.Ser597Asn)
|
rs748314396
|
0.00008
|
NM_144687.4(NLRP12):c.3147G>A (p.Ala1049=)
|
rs148506660
|
0.00008
|
NM_207122.2(EXT2):c.1685G>A (p.Arg562Gln)
|
rs140561784
|
0.00008
|
NM_000127.3(EXT1):c.1609G>A (p.Val537Ile)
|
rs144397063
|
0.00007
|
NM_000138.5(FBN1):c.1327+12A>G
|
rs764788168
|
0.00007
|
NM_000138.5(FBN1):c.1363T>C (p.Leu455=)
|
rs557954342
|
0.00007
|
NM_000138.5(FBN1):c.5963C>T (p.Thr1988Ile)
|
rs142912485
|
0.00007
|
NM_000138.5(FBN1):c.6372A>G (p.Ser2124=)
|
rs397515832
|
0.00007
|
NM_000138.5(FBN1):c.6942C>T (p.Tyr2314=)
|
rs372967546
|
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.663G>C (p.Pro221=)
|
rs104895162
|
0.00007
|
NM_000302.4(PLOD1):c.1218G>A (p.Pro406=)
|
rs754812888
|
0.00007
|
NM_000302.4(PLOD1):c.1903-5T>A
|
rs776128914
|
0.00007
|
NM_000302.4(PLOD1):c.579+16C>T
|
rs552192756
|
0.00007
|
NM_000388.4(CASR):c.825T>C (p.Asp275=)
|
rs199836910
|
0.00007
|
NM_000393.5(COL5A2):c.4495G>T (p.Val1499Leu)
|
rs527433112
|
0.00007
|
NM_000431.4(MVK):c.942T>A (p.Ser314=)
|
rs201216490
|
0.00007
|
NM_000628.5(IL10RB):c.804+8G>A
|
rs112943706
|
0.00007
|
NM_001032283.3(TMPO):c.565+1472G>A
|
rs375628010
|
0.00007
|
NM_001065.4(TNFRSF1A):c.1312G>A (p.Glu438Lys)
|
rs745814061
|
0.00007
|
NM_001111.5(ADAR):c.16-7T>A
|
rs190022999
|
0.00007
|
NM_001111.5(ADAR):c.2313C>T (p.Ala771=)
|
rs538377634
|
0.00007
|
NM_001111.5(ADAR):c.3316-20G>A
|
rs781024893
|
0.00007
|
NM_001199138.2(NLRC4):c.2647G>A (p.Ala883Thr)
|
rs780229500
|
0.00007
|
NM_001199138.2(NLRC4):c.2847G>A (p.Val949=)
|
rs201737340
|
0.00007
|
NM_001243133.2(NLRP3):c.1317G>A (p.Ala439=)
|
rs201976178
|
0.00007
|
NM_001243133.2(NLRP3):c.1665C>T (p.Asp555=)
|
rs151097783
|
0.00007
|
NM_001243133.2(NLRP3):c.225G>A (p.Ala75=)
|
rs140219362
|
0.00007
|
NM_001243133.2(NLRP3):c.2273T>C (p.Val758Ala)
|
rs770791406
|
0.00007
|
NM_001243133.2(NLRP3):c.2475C>T (p.Cys825=)
|
rs751365115
|
0.00007
|
NM_001243133.2(NLRP3):c.277+11G>A
|
rs577522959
|
0.00007
|
NM_001243133.2(NLRP3):c.2940C>T (p.Gly980=)
|
rs199649583
|
0.00007
|
NM_001282225.2(ADA2):c.754-12del
|
rs767647109
|
0.00007
|
NM_001370466.1(NOD2):c.1097G>A (p.Arg366His)
|
rs140918872
|
0.00007
|
NM_001370466.1(NOD2):c.1199C>T (p.Pro400Leu)
|
rs766651775
|
0.00007
|
NM_001370466.1(NOD2):c.1875G>A (p.Ser625=)
|
rs141355588
|
0.00007
|
NM_001370466.1(NOD2):c.2734A>G (p.Ile912Val)
|
rs201781416
|
0.00007
|
NM_001370466.1(NOD2):c.839C>T (p.Thr280Met)
|
rs191901394
|
0.00007
|
NM_001375808.2(LPIN2):c.1887C>T (p.His629=)
|
rs141252313
|
0.00007
|
NM_001375808.2(LPIN2):c.2174+10C>T
|
rs201227858
|
0.00007
|
NM_001375808.2(LPIN2):c.588A>G (p.Ala196=)
|
rs1020661683
|
0.00007
|
NM_001375808.2(LPIN2):c.591-20C>G
|
rs370548322
|
0.00007
|
NM_001558.4(IL10RA):c.1360G>A (p.Glu454Lys)
|
rs79887053
|
0.00007
|
NM_001558.4(IL10RA):c.811-9C>T
|
rs200641281
|
0.00007
|
NM_001611.5(ACP5):c.582G>A (p.Ala194=)
|
rs367699467
|
0.00007
|
NM_001611.5(ACP5):c.720C>T (p.His240=)
|
rs374919506
|
0.00007
|
NM_001844.5(COL2A1):c.4095T>C (p.Asn1365=)
|
rs367625071
|
0.00007
|
NM_001851.6(COL9A1):c.88+19A>C
|
rs188749185
|
0.00007
|
NM_001852.4(COL9A2):c.185C>T (p.Pro62Leu)
|
rs767523458
|
0.00007
|
NM_001972.4(ELANE):c.524C>T (p.Thr175Met)
|
rs193141883
|
0.00007
|
NM_001999.4(FBN2):c.2198C>G (p.Pro733Arg)
|
rs745528502
|
0.00007
|
NM_001999.4(FBN2):c.3839C>T (p.Ser1280Leu)
|
rs200481467
|
0.00007
|
NM_001999.4(FBN2):c.3964A>G (p.Thr1322Ala)
|
rs367614052
|
0.00007
|
NM_001999.4(FBN2):c.4035G>A (p.Lys1345=)
|
rs772465221
|
0.00007
|
NM_001999.4(FBN2):c.4298G>A (p.Arg1433His)
|
rs143462011
|
0.00007
|
NM_001999.4(FBN2):c.5447C>T (p.Pro1816Leu)
|
rs149537608
|
0.00007
|
NM_001999.4(FBN2):c.6063C>T (p.Val2021=)
|
rs149380208
|
0.00007
|
NM_001999.4(FBN2):c.6512-7A>G
|
rs201462445
|
0.00007
|
NM_001999.4(FBN2):c.8085C>T (p.Asp2695=)
|
rs765452930
|
0.00007
|
NM_002381.5(MATN3):c.354C>T (p.Ala118=)
|
rs192462913
|
0.00007
|
NM_002609.4(PDGFRB):c.963G>A (p.Glu321=)
|
rs773441060
|
0.00007
|
NM_002661.5(PLCG2):c.1092C>T (p.Pro364=)
|
rs369150321
|
0.00007
|
NM_002661.5(PLCG2):c.2055-10C>A
|
rs747616797
|
0.00007
|
NM_002661.5(PLCG2):c.2236-15_2236-14insG
|
rs768770205
|
0.00007
|
NM_002661.5(PLCG2):c.309G>A (p.Gln103=)
|
rs766368497
|
0.00007
|
NM_002661.5(PLCG2):c.3516C>T (p.Ser1172=)
|
rs773778524
|
0.00007
|
NM_003183.6(ADAM17):c.958-13_958-12insTG
|
rs746257518
|
0.00007
|
NM_003238.6(TGFB2):c.217A>G (p.Ser73Gly)
|
rs753391734
|
0.00007
|
NM_003977.4(AIP):c.609C>T (p.Tyr203=)
|
rs146317385
|
0.00007
|
NM_003978.5(PSTPIP1):c.1161G>A (p.Glu387=)
|
rs138056015
|
0.00007
|
NM_003978.5(PSTPIP1):c.986C>T (p.Ala329Val)
|
rs369498554
|
0.00007
|
NM_004364.5(CEBPA):c.735C>T (p.Gly245=)
|
rs925688689
|
0.00007
|
NM_004364.5(CEBPA):c.918C>A (p.Arg306=)
|
rs773844593
|
0.00007
|
NM_004371.4(COPA):c.1205C>T (p.Ser402Phe)
|
rs200604416
|
0.00007
|
NM_004371.4(COPA):c.497-14T>C
|
rs758856725
|
0.00007
|
NM_004944.4(DNASE1L3):c.231-9G>C
|
rs188393900
|
0.00007
|
NM_005373.3(MPL):c.318G>A (p.Pro106=)
|
rs370001905
|
0.00007
|
NM_006397.3(RNASEH2A):c.402C>T (p.Asn134=)
|
rs778120777
|
0.00007
|
NM_012275.3(IL36RN):c.436A>G (p.Ile146Val)
|
rs202059991
|
0.00007
|
NM_015474.4(SAMHD1):c.1743G>A (p.Pro581=)
|
rs374642075
|
0.00007
|
NM_017617.5(NOTCH1):c.4551C>T (p.Asp1517=)
|
rs766737406
|
0.00007
|
NM_017617.5(NOTCH1):c.4809C>T (p.Asn1603=)
|
rs370523171
|
0.00007
|
NM_022124.6(CDH23):c.5131G>A (p.Val1711Ile)
|
rs181611778
|
0.00007
|
NM_022168.4(IFIH1):c.2044+2T>C
|
rs201026962
|
0.00007
|
NM_022168.4(IFIH1):c.2232T>A (p.Phe744Leu)
|
rs201142986
|
0.00007
|
NM_022168.4(IFIH1):c.2361C>T (p.Ile787=)
|
rs35677292
|
0.00007
|
NM_022168.4(IFIH1):c.2642T>C (p.Ile881Thr)
|
rs745487097
|
0.00007
|
NM_022168.4(IFIH1):c.2919G>C (p.Val973=)
|
rs376116707
|
0.00007
|
NM_023110.3(FGFR1):c.359-13C>G
|
rs376369060
|
0.00007
|
NM_024408.4(NOTCH2):c.3912C>T (p.Phe1304=)
|
rs764301517
|
0.00007
|
NM_024408.4(NOTCH2):c.6159C>T (p.Arg2053=)
|
rs143282787
|
0.00007
|
NM_024408.4(NOTCH2):c.751+325G>T
|
rs782464243
|
0.00007
|
NM_030777.4(SLC2A10):c.1559G>A (p.Ser520Asn)
|
rs573480396
|
0.00007
|
NM_030777.4(SLC2A10):c.581C>T (p.Thr194Ile)
|
rs763889166
|
0.00007
|
NM_030777.4(SLC2A10):c.792T>C (p.His264=)
|
rs377031320
|
0.00007
|
NM_033629.6(TREX1):c.651G>A (p.Arg217=)
|
rs140199177
|
0.00007
|
NM_144687.4(NLRP12):c.24C>T (p.Asp8=)
|
rs577507616
|
0.00007
|
NM_144687.4(NLRP12):c.432T>C (p.Asn144=)
|
rs747629927
|
0.00007
|
NM_212482.4(FN1):c.1413A>C (p.Thr471=)
|
rs1009644782
|
0.00007
|
NM_000088.4(COL1A1):c.2998A>G (p.Met1000Val)
|
rs777265470
|
0.00006
|
NM_000088.4(COL1A1):c.3580G>A (p.Ala1194Thr)
|
rs769571473
|
0.00006
|
NM_000090.4(COL3A1):c.1128C>T (p.His376=)
|
rs771015742
|
0.00006
|
NM_000127.3(EXT1):c.1659C>T (p.Tyr553=)
|
rs757115396
|
0.00006
|
NM_000127.3(EXT1):c.214G>A (p.Glu72Lys)
|
rs150818931
|
0.00006
|
NM_000138.5(FBN1):c.124G>C (p.Ala42Pro)
|
rs377722423
|
0.00006
|
NM_000138.5(FBN1):c.1961-14T>C
|
rs373918202
|
0.00006
|
NM_000138.5(FBN1):c.2434G>A (p.Glu812Lys)
|
rs201778577
|
0.00006
|
NM_000138.5(FBN1):c.273T>C (p.Asp91=)
|
rs375450755
|
0.00006
|
NM_000138.5(FBN1):c.2793G>T (p.Gly931=)
|
rs775785545
|
0.00006
|
NM_000138.5(FBN1):c.2835C>T (p.Ala945=)
|
rs140389544
|
0.00006
|
NM_000138.5(FBN1):c.2901C>T (p.Cys967=)
|
rs755610084
|
0.00006
|
NM_000138.5(FBN1):c.3082+13G>A
|
rs757559866
|
0.00006
|
NM_000138.5(FBN1):c.3464-6C>T
|
rs375596551
|
0.00006
|
NM_000138.5(FBN1):c.4150A>G (p.Met1384Val)
|
rs775543440
|
0.00006
|
NM_000138.5(FBN1):c.4337-14T>C
|
rs78068079
|
0.00006
|
NM_000138.5(FBN1):c.4875C>G (p.Thr1625=)
|
rs140628
|
0.00006
|
NM_000138.5(FBN1):c.4986A>G (p.Thr1662=)
|
rs753705796
|
0.00006
|
NM_000138.5(FBN1):c.4998C>G (p.Thr1666=)
|
rs141925790
|
0.00006
|
NM_000138.5(FBN1):c.5066-13dup
|
rs774517414
|
0.00006
|
NM_000138.5(FBN1):c.5097C>T (p.Tyr1699=)
|
rs368979510
|
0.00006
|
NM_000138.5(FBN1):c.5516A>T (p.Tyr1839Phe)
|
rs758725993
|
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.6834C>T (p.Pro2278=)
|
rs397515839
|
0.00006
|
NM_000138.5(FBN1):c.7204+7C>G
|
rs371763964
|
0.00006
|
NM_000138.5(FBN1):c.7516G>A (p.Gly2506Ser)
|
rs756295016
|
0.00006
|
NM_000138.5(FBN1):c.8071G>A (p.Gly2691Ser)
|
rs145105768
|
0.00006
|
NM_000138.5(FBN1):c.8310C>T (p.His2770=)
|
rs112189340
|
0.00006
|
NM_000138.5(FBN1):c.988+20G>A
|
rs375760654
|
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.1674A>G (p.Gln558=)
|
rs747471997
|
0.00006
|
NM_000243.3(MEFV):c.1759+7C>T
|
rs772667365
|
0.00006
|
NM_000243.3(MEFV):c.1793-16C>G
|
rs747964292
|
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.866C>T (p.Ala289Val)
|
rs104895132
|
0.00006
|
NM_000302.4(PLOD1):c.1651-8C>T
|
rs191817164
|
0.00006
|
NM_000302.4(PLOD1):c.276G>A (p.Glu92=)
|
rs768169776
|
0.00006
|
NM_000302.4(PLOD1):c.534C>T (p.Ser178=)
|
rs113384442
|
0.00006
|
NM_000302.4(PLOD1):c.77-7T>C
|
rs371488160
|
0.00006
|
NM_000388.4(CASR):c.1554A>G (p.Gly518=)
|
rs138099808
|
0.00006
|
NM_000388.4(CASR):c.762T>C (p.His254=)
|
rs76438850
|
0.00006
|
NM_000393.5(COL5A2):c.567+17G>T
|
rs780672109
|
0.00006
|
NM_000431.4(MVK):c.527+10G>A
|
rs368909134
|
0.00006
|
NM_000431.4(MVK):c.855C>T (p.Ala285=)
|
rs550696805
|
0.00006
|
NM_000431.4(MVK):c.886-15A>T
|
rs367853629
|
0.00006
|
NM_000516.7(GNAS):c.357G>A (p.Leu119=)
|
rs368741499
|
0.00006
|
NM_000628.5(IL10RB):c.735G>A (p.Leu245=)
|
rs747586675
|
0.00006
|
NM_001032283.3(TMPO):c.249C>T (p.Ala83=)
|
rs747943302
|
0.00006
|
NM_001032283.3(TMPO):c.565+1709T>C
|
rs374855899
|
0.00006
|
NM_001065.4(TNFRSF1A):c.1197G>T (p.Ala399=)
|
rs140486890
|
0.00006
|
NM_001065.4(TNFRSF1A):c.255G>C (p.Glu85Asp)
|
rs770439546
|
0.00006
|
NM_001065.4(TNFRSF1A):c.531C>T (p.Asn177=)
|
rs138918985
|
0.00006
|
NM_001065.4(TNFRSF1A):c.672T>C (p.Leu224=)
|
rs202150552
|
0.00006
|
NM_001065.4(TNFRSF1A):c.784A>G (p.Thr262Ala)
|
rs200728879
|
0.00006
|
NM_001110556.2(FLNA):c.3094C>T (p.Arg1032Cys)
|
rs782546714
|
0.00006
|
NM_001110556.2(FLNA):c.5124C>T (p.Phe1708=)
|
rs368399445
|
0.00006
|
NM_001110556.2(FLNA):c.6936C>T (p.Asn2312=)
|
rs201203814
|
0.00006
|
NM_001111.5(ADAR):c.1107G>A (p.Thr369=)
|
rs181731036
|
0.00006
|
NM_001111.5(ADAR):c.1875A>G (p.Lys625=)
|
rs771871176
|
0.00006
|
NM_001111.5(ADAR):c.2250C>T (p.Ser750=)
|
rs746605003
|
0.00006
|
NM_001111.5(ADAR):c.2895G>A (p.Pro965=)
|
rs149207057
|
0.00006
|
NM_001111.5(ADAR):c.3019+19C>T
|
rs765520247
|
0.00006
|
NM_001111.5(ADAR):c.3171G>A (p.Leu1057=)
|
rs149496690
|
0.00006
|
NM_001111.5(ADAR):c.3363T>A (p.Thr1121=)
|
rs373934702
|
0.00006
|
NM_001111.5(ADAR):c.57C>T (p.Gly19=)
|
rs137983302
|
0.00006
|
NM_001122681.2(SH3BP2):c.1150C>T (p.Arg384Trp)
|
rs529543434
|
0.00006
|
NM_001122681.2(SH3BP2):c.1197C>T (p.Pro399=)
|
rs746578391
|
0.00006
|
NM_001122681.2(SH3BP2):c.34A>G (p.Met12Val)
|
rs148117486
|
0.00006
|
NM_001122681.2(SH3BP2):c.429-10T>C
|
rs371090009
|
0.00006
|
NM_001122681.2(SH3BP2):c.440C>T (p.Ser147Leu)
|
rs150461713
|
0.00006
|
NM_001122681.2(SH3BP2):c.513T>C (p.Asn171=)
|
rs375149081
|
0.00006
|
NM_001122681.2(SH3BP2):c.97C>T (p.Leu33=)
|
rs774809755
|
0.00006
|
NM_001171.6(ABCC6):c.1338+16A>C
|
rs764198351
|
0.00006
|
NM_001171.6(ABCC6):c.1569C>A (p.Gly523=)
|
rs145764775
|
0.00006
|
NM_001171.6(ABCC6):c.4332C>T (p.Leu1444=)
|
rs559653607
|
0.00006
|
NM_001171.6(ABCC6):c.4404-5C>A
|
rs58190361
|
0.00006
|
NM_001199138.2(NLRC4):c.2592A>G (p.Gly864=)
|
rs142289215
|
0.00006
|
NM_001199138.2(NLRC4):c.480T>C (p.Ala160=)
|
rs372559110
|
0.00006
|
NM_001199138.2(NLRC4):c.88del (p.Trp30fs)
|
rs576282835
|
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.159C>A (p.Ala53=)
|
rs200788923
|
0.00006
|
NM_001243133.2(NLRP3):c.1659C>T (p.Ser553=)
|
rs200224266
|
0.00006
|
NM_001243133.2(NLRP3):c.2150+16T>C
|
rs368389907
|
0.00006
|
NM_001243133.2(NLRP3):c.2425G>A (p.Gly809Ser)
|
rs141389711
|
0.00006
|
NM_001243133.2(NLRP3):c.2492+10G>A
|
rs780931570
|
0.00006
|
NM_001243133.2(NLRP3):c.2709C>G (p.Ser903=)
|
rs145787821
|
0.00006
|
NM_001243133.2(NLRP3):c.3084C>T (p.Val1028=)
|
rs201532680
|
0.00006
|
NM_001243133.2(NLRP3):c.398-5C>T
|
rs200459664
|
0.00006
|
NM_001243133.2(NLRP3):c.837C>T (p.Pro279=)
|
rs368745165
|
0.00006
|
NM_001282225.2(ADA2):c.1081+17C>T
|
rs368021522
|
0.00006
|
NM_001370466.1(NOD2):c.1203C>T (p.Ala401=)
|
rs547826765
|
0.00006
|
NM_001370466.1(NOD2):c.1212G>T (p.Ser404=)
|
rs145834617
|
0.00006
|
NM_001370466.1(NOD2):c.2886-9C>A
|
rs554292255
|
0.00006
|
NM_001370466.1(NOD2):c.388T>C (p.Trp130Arg)
|
rs104895420
|
0.00006
|
NM_001370466.1(NOD2):c.540A>T (p.Pro180=)
|
rs377752699
|
0.00006
|
NM_001370466.1(NOD2):c.778C>T (p.His260Tyr)
|
rs560242309
|
0.00006
|
NM_001375808.2(LPIN2):c.1011C>T (p.Ser337=)
|
rs375422942
|
0.00006
|
NM_001375808.2(LPIN2):c.1338C>T (p.Ser446=)
|
rs753669833
|
0.00006
|
NM_001375808.2(LPIN2):c.1888G>A (p.Gly630Ser)
|
rs148607670
|
0.00006
|
NM_001375808.2(LPIN2):c.608C>T (p.Ser203Phe)
|
rs144555528
|
0.00006
|
NM_001375808.2(LPIN2):c.858G>A (p.Arg286=)
|
rs548077620
|
0.00006
|
NM_001558.4(IL10RA):c.90G>A (p.Pro30=)
|
rs747872407
|
0.00006
|
NM_001611.5(ACP5):c.783G>A (p.Gly261=)
|
rs141519703
|
0.00006
|
NM_001844.5(COL2A1):c.2886C>T (p.Asp962=)
|
rs150951022
|
0.00006
|
NM_001852.4(COL9A2):c.1123C>G (p.Arg375Gly)
|
rs375476174
|
0.00006
|
NM_001852.4(COL9A2):c.1871-8G>T
|
rs372902486
|
0.00006
|
NM_001852.4(COL9A2):c.2059A>G (p.Lys687Glu)
|
rs201847956
|
0.00006
|
NM_001853.4(COL9A3):c.1548+8G>A
|
rs376918493
|
0.00006
|
NM_001972.4(ELANE):c.597+10C>G
|
rs201460728
|
0.00006
|
NM_001999.4(FBN2):c.1666T>C (p.Tyr556His)
|
rs1256710897
|
0.00006
|
NM_001999.4(FBN2):c.2508G>A (p.Thr836=)
|
rs372872626
|
0.00006
|
NM_001999.4(FBN2):c.3045C>T (p.Pro1015=)
|
rs371640952
|
0.00006
|
NM_001999.4(FBN2):c.3883G>A (p.Asp1295Asn)
|
rs759131544
|
0.00006
|
NM_001999.4(FBN2):c.3908C>T (p.Pro1303Leu)
|
rs144505094
|
0.00006
|
NM_001999.4(FBN2):c.4757G>C (p.Arg1586Pro)
|
rs143195229
|
0.00006
|
NM_001999.4(FBN2):c.5423-8C>A
|
rs1195073601
|
0.00006
|
NM_001999.4(FBN2):c.5853C>T (p.Thr1951=)
|
rs377133710
|
0.00006
|
NM_001999.4(FBN2):c.5855T>C (p.Val1952Ala)
|
rs372879535
|
0.00006
|
NM_001999.4(FBN2):c.6433A>G (p.Lys2145Glu)
|
rs766271753
|
0.00006
|
NM_001999.4(FBN2):c.6982G>T (p.Ala2328Ser)
|
rs199910288
|
0.00006
|
NM_001999.4(FBN2):c.7583A>G (p.Lys2528Arg)
|
rs749623269
|
0.00006
|
NM_001999.4(FBN2):c.7690C>G (p.Gln2564Glu)
|
rs373970388
|
0.00006
|
NM_001999.4(FBN2):c.7808T>C (p.Phe2603Ser)
|
rs374507398
|
0.00006
|
NM_001999.4(FBN2):c.803A>G (p.Asn268Ser)
|
rs760817242
|
0.00006
|
NM_001999.4(FBN2):c.8086G>A (p.Val2696Met)
|
rs373994051
|
0.00006
|
NM_002474.3(MYH11):c.1764G>A (p.Ala588=)
|
rs375133214
|
0.00006
|
NM_002474.3(MYH11):c.1913C>T (p.Ser638Leu)
|
rs771128441
|
0.00006
|
NM_002474.3(MYH11):c.3858+13C>T
|
rs375738696
|
0.00006
|
NM_002609.4(PDGFRB):c.1526C>T (p.Thr509Met)
|
rs766614995
|
0.00006
|
NM_002609.4(PDGFRB):c.18G>A (p.Ala6=)
|
rs201570042
|
0.00006
|
NM_002609.4(PDGFRB):c.377G>A (p.Gly126Asp)
|
rs371293050
|
0.00006
|
NM_002661.5(PLCG2):c.114C>T (p.Pro38=)
|
rs750924322
|
0.00006
|
NM_002661.5(PLCG2):c.1558-8C>T
|
rs371117206
|
0.00006
|
NM_002661.5(PLCG2):c.1629C>T (p.Ala543=)
|
rs374641731
|
0.00006
|
NM_002661.5(PLCG2):c.1734-5C>T
|
rs201917839
|
0.00006
|
NM_002661.5(PLCG2):c.1881C>T (p.Phe627=)
|
rs754739394
|
0.00006
|
NM_002661.5(PLCG2):c.1998C>T (p.Asp666=)
|
rs745784908
|
0.00006
|
NM_002661.5(PLCG2):c.2031C>T (p.Ser677=)
|
rs759929786
|
0.00006
|
NM_002661.5(PLCG2):c.2054+12G>A
|
rs369542249
|
0.00006
|
NM_002661.5(PLCG2):c.2259C>T (p.Tyr753=)
|
rs370847174
|
0.00006
|
NM_002661.5(PLCG2):c.2331G>A (p.Leu777=)
|
rs372491825
|
0.00006
|
NM_002661.5(PLCG2):c.2577C>T (p.Asn859=)
|
rs747043855
|
0.00006
|
NM_002661.5(PLCG2):c.3336C>T (p.Ile1112=)
|
rs193128632
|
0.00006
|
NM_002661.5(PLCG2):c.338-14T>C
|
rs375485033
|
0.00006
|
NM_002834.5(PTPN11):c.392A>G (p.Lys131Arg)
|
rs397516805
|
0.00006
|
NM_002834.5(PTPN11):c.616T>C (p.Leu206=)
|
rs78376169
|
0.00006
|
NM_003036.4(SKI):c.1162G>A (p.Ala388Thr)
|
rs376736872
|
0.00006
|
NM_003036.4(SKI):c.1182C>T (p.Ser394=)
|
rs542616415
|
0.00006
|
NM_003036.4(SKI):c.1211+10C>T
|
rs200242660
|
0.00006
|
NM_003036.4(SKI):c.1271C>T (p.Pro424Leu)
|
rs764317955
|
0.00006
|
NM_003036.4(SKI):c.1710C>T (p.Arg570=)
|
rs766067033
|
0.00006
|
NM_003036.4(SKI):c.1923G>A (p.Leu641=)
|
rs199666240
|
0.00006
|
NM_003036.4(SKI):c.360C>T (p.Arg120=)
|
rs375024753
|
0.00006
|
NM_003036.4(SKI):c.567G>C (p.Leu189=)
|
rs752411031
|
0.00006
|
NM_003183.6(ADAM17):c.1344+14G>A
|
rs370991762
|
0.00006
|
NM_003183.6(ADAM17):c.1602C>T (p.Cys534=)
|
rs757833957
|
0.00006
|
NM_003183.6(ADAM17):c.1746C>T (p.Cys582=)
|
rs748758847
|
0.00006
|
NM_003183.6(ADAM17):c.2127C>T (p.His709=)
|
rs768383645
|
0.00006
|
NM_003183.6(ADAM17):c.2205T>G (p.Thr735=)
|
rs374390369
|
0.00006
|
NM_003183.6(ADAM17):c.2388G>A (p.Thr796=)
|
rs149361049
|
0.00006
|
NM_003183.6(ADAM17):c.450+18T>G
|
rs780179175
|
0.00006
|
NM_003183.6(ADAM17):c.777T>C (p.Asp259=)
|
rs146893995
|
0.00006
|
NM_003238.6(TGFB2):c.1140C>T (p.Cys380=)
|
rs201129153
|
0.00006
|
NM_003238.6(TGFB2):c.11G>A (p.Cys4Tyr)
|
rs776628524
|
0.00006
|
NM_003238.6(TGFB2):c.644-4C>T
|
rs11466408
|
0.00006
|
NM_003239.5(TGFB3):c.504C>T (p.Ile168=)
|
rs148029842
|
0.00006
|
NM_003239.5(TGFB3):c.517-6C>G
|
rs45586636
|
0.00006
|
NM_003239.5(TGFB3):c.96C>T (p.Phe32=)
|
rs748977151
|
0.00006
|
NM_003977.4(AIP):c.145G>A (p.Val49Met)
|
rs1063385
|
0.00006
|
NM_003978.5(PSTPIP1):c.1120-12T>C
|
rs1177446255
|
0.00006
|
NM_003978.5(PSTPIP1):c.1146G>A (p.Ala382=)
|
rs760234757
|
0.00006
|
NM_003978.5(PSTPIP1):c.838+16C>T
|
rs781423711
|
0.00006
|
NM_004371.4(COPA):c.1076+8G>A
|
rs758287640
|
0.00006
|
NM_004371.4(COPA):c.2015A>T (p.Asn672Ile)
|
rs147312908
|
0.00006
|
NM_004371.4(COPA):c.2889C>T (p.Tyr963=)
|
rs201477148
|
0.00006
|
NM_004371.4(COPA):c.3195C>T (p.Ser1065=)
|
rs756147600
|
0.00006
|
NM_004371.4(COPA):c.3420+16T>G
|
rs370631804
|
0.00006
|
NM_004371.4(COPA):c.435C>T (p.Pro145=)
|
rs906358012
|
0.00006
|
NM_004371.4(COPA):c.706+11C>T
|
rs769782129
|
0.00006
|
NM_004371.4(COPA):c.753T>C (p.Asn251=)
|
rs374078706
|
0.00006
|
NM_004612.4(TGFBR1):c.*4356A>G
|
rs201446431
|
0.00006
|
NM_004944.4(DNASE1L3):c.801+17G>C
|
rs373633551
|
0.00006
|
NM_005188.4(CBL):c.6C>G (p.Ala2=)
|
rs770473070
|
0.00006
|
NM_005373.3(MPL):c.1446G>A (p.Arg482=)
|
rs1046680606
|
0.00006
|
NM_005373.3(MPL):c.1542G>A (p.Arg514=)
|
rs367960803
|
0.00006
|
NM_005373.3(MPL):c.1573A>C (p.Arg525=)
|
rs143100182
|
0.00006
|
NM_006258.4(PRKG1):c.30G>A (p.Ala10=)
|
rs768867882
|
0.00006
|
NM_006397.3(RNASEH2A):c.108G>A (p.Ala36=)
|
rs774063653
|
0.00006
|
NM_006397.3(RNASEH2A):c.426C>T (p.Thr142=)
|
rs376539482
|
0.00006
|
NM_006397.3(RNASEH2A):c.453G>A (p.Ala151=)
|
rs148346342
|
0.00006
|
NM_006397.3(RNASEH2A):c.638-9C>A
|
rs370005103
|
0.00006
|
NM_012275.3(IL36RN):c.245C>T (p.Pro82Leu)
|
rs144182857
|
0.00006
|
NM_012275.3(IL36RN):c.447C>T (p.Phe149=)
|
rs201107219
|
0.00006
|
NM_015474.4(SAMHD1):c.1812C>A (p.Val604=)
|
rs139841806
|
0.00006
|
NM_015474.4(SAMHD1):c.18C>T (p.Ser6=)
|
rs149098281
|
0.00006
|
NM_015474.4(SAMHD1):c.401G>A (p.Arg134Gln)
|
rs767413799
|
0.00006
|
NM_017617.5(NOTCH1):c.2640C>T (p.His880=)
|
rs374946182
|
0.00006
|
NM_017617.5(NOTCH1):c.975C>T (p.Asn325=)
|
rs746111102
|
0.00006
|
NM_017668.3(NDE1):c.948-3126G>A
|
rs377410503
|
0.00006
|
NM_022168.4(IFIH1):c.1243C>A (p.Gln415Lys)
|
rs575678322
|
0.00006
|
NM_022168.4(IFIH1):c.1766-15T>C
|
rs374369372
|
0.00006
|
NM_022168.4(IFIH1):c.1784G>A (p.Arg595His)
|
rs74162084
|
0.00006
|
NM_022168.4(IFIH1):c.2043T>C (p.Phe681=)
|
rs148471793
|
0.00006
|
NM_022168.4(IFIH1):c.2106C>A (p.Thr702=)
|
rs774221500
|
0.00006
|
NM_022168.4(IFIH1):c.2295C>A (p.Pro765=)
|
rs769746385
|
0.00006
|
NM_022168.4(IFIH1):c.2299del (p.Thr767fs)
|
rs759430873
|
0.00006
|
NM_022168.4(IFIH1):c.2317G>T (p.Glu773Ter)
|
rs201472224
|
0.00006
|
NM_022168.4(IFIH1):c.2549G>A (p.Arg850Gln)
|
rs370618144
|
0.00006
|
NM_022168.4(IFIH1):c.2788A>C (p.Asn930His)
|
rs374202040
|
0.00006
|
NM_022168.4(IFIH1):c.2893G>A (p.Gly965Ser)
|
rs202009944
|
0.00006
|
NM_022168.4(IFIH1):c.346C>A (p.Gln116Lys)
|
rs774468416
|
0.00006
|
NM_022168.4(IFIH1):c.453+17A>G
|
rs369707091
|
0.00006
|
NM_023110.3(FGFR1):c.1285-15C>T
|
rs760069564
|
0.00006
|
NM_023110.3(FGFR1):c.2049-13C>T
|
rs756845879
|
0.00006
|
NM_024408.4(NOTCH2):c.1803C>T (p.Gly601=)
|
rs377566312
|
0.00006
|
NM_024408.4(NOTCH2):c.2366-9T>C
|
rs368664174
|
0.00006
|
NM_024408.4(NOTCH2):c.3462G>A (p.Ala1154=)
|
rs146593279
|
0.00006
|
NM_024408.4(NOTCH2):c.3702T>C (p.His1234=)
|
rs376503331
|
0.00006
|
NM_024408.4(NOTCH2):c.4155C>T (p.His1385=)
|
rs764948417
|
0.00006
|
NM_024408.4(NOTCH2):c.5904G>A (p.Ala1968=)
|
rs149442704
|
0.00006
|
NM_024408.4(NOTCH2):c.7413G>A (p.Ala2471=)
|
rs771638958
|
0.00006
|
NM_024408.4(NOTCH2):c.956A>G (p.Asn319Ser)
|
rs144936899
|
0.00006
|
NM_024529.5(CDC73):c.*1083A>T
|
rs367704451
|
0.00006
|
NM_024529.5(CDC73):c.1066+8T>C
|
rs80356647
|
0.00006
|
NM_024529.5(CDC73):c.333C>T (p.Ser111=)
|
rs374834265
|
0.00006
|
NM_024570.4(RNASEH2B):c.742-20T>C
|
rs755138594
|
0.00006
|
NM_024570.4(RNASEH2B):c.823-16_823-15del
|
rs771820918
|
0.00006
|
NM_030777.4(SLC2A10):c.1401C>T (p.Leu467=)
|
rs774586341
|
0.00006
|
NM_030777.4(SLC2A10):c.1464C>T (p.Leu488=)
|
rs142639587
|
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.610G>A (p.Gly204Ser)
|
rs755339268
|
0.00006
|
NM_030777.4(SLC2A10):c.961G>A (p.Val321Met)
|
rs372596900
|
0.00006
|
NM_031229.4(RBCK1):c.1164G>A (p.Glu388=)
|
rs750877383
|
0.00006
|
NM_031229.4(RBCK1):c.1293G>A (p.Thr431=)
|
rs766366513
|
0.00006
|
NM_033360.4(KRAS):c.4+5G>A
|
rs201789109
|
0.00006
|
NM_033629.6(TREX1):c.168A>T (p.Thr56=)
|
rs770441459
|
0.00006
|
NM_033629.6(TREX1):c.219G>A (p.Pro73=)
|
rs778992418
|
0.00006
|
NM_033629.6(TREX1):c.346C>G (p.Pro116Ala)
|
rs761651331
|
0.00006
|
NM_053025.4(MYLK):c.3032C>T (p.Ser1011Phe)
|
rs200423083
|
0.00006
|
NM_053025.4(MYLK):c.4268C>T (p.Thr1423Met)
|
rs776975714
|
0.00006
|
NM_080628.3(TLDC2):c.*18-50G>A
|
rs188941712
|
0.00006
|
NM_080680.3(COL11A2):c.2271C>T (p.Gly757=)
|
rs745568808
|
0.00006
|
NM_080680.3(COL11A2):c.2560G>A (p.Ala854Thr)
|
rs371864924
|
0.00006
|
NM_080680.3(COL11A2):c.3950T>C (p.Leu1317Pro)
|
rs145871842
|
0.00006
|
NM_144687.4(NLRP12):c.102C>T (p.Thr34=)
|
rs199600685
|
0.00006
|
NM_144687.4(NLRP12):c.1599C>T (p.Gly533=)
|
rs758678359
|
0.00006
|
NM_144687.4(NLRP12):c.2785G>A (p.Ala929Thr)
|
rs146368839
|
0.00006
|
NM_144687.4(NLRP12):c.2887G>A (p.Glu963Lys)
|
rs139165669
|
0.00006
|
NM_144687.4(NLRP12):c.2927+12G>A
|
rs373356870
|
0.00006
|
NM_144687.4(NLRP12):c.3042T>C (p.Gly1014=)
|
rs764841108
|
0.00006
|
NM_173842.3(IL1RN):c.116+15A>G
|
rs138621002
|
0.00006
|
NM_198282.4(STING1):c.760-4C>G
|
rs549790890
|
0.00006
|
NM_207122.2(EXT2):c.182G>A (p.Arg61His)
|
rs151228794
|
0.00006
|
NM_207122.2(EXT2):c.357C>T (p.Gly119=)
|
rs753325648
|
0.00006
|
NM_212482.4(FN1):c.5943T>C (p.Ala1981=)
|
rs200485690
|
0.00006
|
NM_212482.4(FN1):c.7116C>T (p.Asn2372=)
|
rs568449322
|
0.00006
|
NM_000093.5(COL5A1):c.2034+18G>C
|
rs200055343
|
0.00005
|
NM_000127.3(EXT1):c.1722+9C>T
|
rs371055794
|
0.00005
|
NM_000127.3(EXT1):c.2062C>T (p.Arg688Trp)
|
rs138855109
|
0.00005
|
NM_000127.3(EXT1):c.543C>T (p.Leu181=)
|
rs375583188
|
0.00005
|
NM_000138.5(FBN1):c.1147+7G>A
|
rs373156788
|
0.00005
|
NM_000138.5(FBN1):c.1272A>G (p.Gln424=)
|
rs763710172
|
0.00005
|
NM_000138.5(FBN1):c.2445T>G (p.Pro815=)
|
rs368004231
|
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.346+16C>T
|
rs369090026
|
0.00005
|
NM_000138.5(FBN1):c.4321G>A (p.Gly1441Arg)
|
rs372118067
|
0.00005
|
NM_000138.5(FBN1):c.6699C>T (p.Pro2233=)
|
rs372386014
|
0.00005
|
NM_000138.5(FBN1):c.6852T>C (p.Pro2284=)
|
rs201226058
|
0.00005
|
NM_000138.5(FBN1):c.7820-4G>A
|
rs750036723
|
0.00005
|
NM_000138.5(FBN1):c.7964C>T (p.Ala2655Val)
|
rs202240409
|
0.00005
|
NM_000138.5(FBN1):c.7965G>A (p.Ala2655=)
|
rs199887650
|
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_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_000243.3(MEFV):c.96T>C (p.Ser32=)
|
rs761135823
|
0.00005
|
NM_000302.4(PLOD1):c.1071G>A (p.Ala357=)
|
rs374036329
|
0.00005
|
NM_000302.4(PLOD1):c.1470+14G>A
|
rs761691961
|
0.00005
|
NM_000302.4(PLOD1):c.870C>T (p.Val290=)
|
rs373082170
|
0.00005
|
NM_000431.4(MVK):c.1067C>T (p.Thr356Met)
|
rs104895342
|
0.00005
|
NM_000435.3(NOTCH3):c.4413C>T (p.Tyr1471=)
|
rs920286007
|
0.00005
|
NM_000516.7(GNAS):c.1039-4G>A
|
rs575570315
|
0.00005
|
NM_000516.7(GNAS):c.576G>T (p.Pro192=)
|
rs558915293
|
0.00005
|
NM_000628.5(IL10RB):c.762C>T (p.Tyr254=)
|
rs143116323
|
0.00005
|
NM_001032283.3(TMPO):c.13C>T (p.Leu5=)
|
rs149067616
|
0.00005
|
NM_001032283.3(TMPO):c.565+1413A>G
|
rs57670957
|
0.00005
|
NM_001042492.3(NF1):c.4263G>A (p.Pro1421=)
|
rs201648604
|
0.00005
|
NM_001042492.3(NF1):c.6315C>T (p.His2105=)
|
rs145732909
|
0.00005
|
NM_001065.4(TNFRSF1A):c.168G>A (p.Ser56=)
|
rs104895280
|
0.00005
|
NM_001065.4(TNFRSF1A):c.434A>G (p.Asn145Ser)
|
rs104895288
|
0.00005
|
NM_001110556.2(FLNA):c.3678C>T (p.Pro1226=)
|
rs377579695
|
0.00005
|
NM_001110556.2(FLNA):c.4263C>T (p.Thr1421=)
|
rs398123618
|
0.00005
|
NM_001111.5(ADAR):c.1934+12G>A
|
rs776357782
|
0.00005
|
NM_001111.5(ADAR):c.3105C>T (p.Ser1035=)
|
rs769697484
|
0.00005
|
NM_001111.5(ADAR):c.582G>A (p.Leu194=)
|
rs762045154
|
0.00005
|
NM_001111.5(ADAR):c.768C>T (p.His256=)
|
rs752953697
|
0.00005
|
NM_001122681.2(SH3BP2):c.1644C>T (p.Ser548=)
|
rs145346010
|
0.00005
|
NM_001122681.2(SH3BP2):c.247C>A (p.Arg83=)
|
rs139626310
|
0.00005
|
NM_001199138.2(NLRC4):c.1080A>G (p.Thr360=)
|
rs748510736
|
0.00005
|
NM_001199138.2(NLRC4):c.1443G>A (p.Ser481=)
|
rs139211001
|
0.00005
|
NM_001199138.2(NLRC4):c.208C>T (p.Leu70Phe)
|
rs201587008
|
0.00005
|
NM_001199138.2(NLRC4):c.2649A>G (p.Ala883=)
|
rs752785896
|
0.00005
|
NM_001199138.2(NLRC4):c.30C>T (p.Ala10=)
|
rs147408103
|
0.00005
|
NM_001243133.2(NLRP3):c.207C>T (p.Ala69=)
|
rs200082602
|
0.00005
|
NM_001243133.2(NLRP3):c.2424C>T (p.Leu808=)
|
rs147154764
|
0.00005
|
NM_001243133.2(NLRP3):c.2574C>T (p.Leu858=)
|
rs201263581
|
0.00005
|
NM_001243133.2(NLRP3):c.309T>C (p.Thr103=)
|
rs199822721
|
0.00005
|
NM_001282225.2(ADA2):c.1044C>T (p.Gly348=)
|
rs760030241
|
0.00005
|
NM_001282225.2(ADA2):c.1303C>G (p.Pro435Ala)
|
rs186147069
|
0.00005
|
NM_001282225.2(ADA2):c.702G>A (p.Glu234=)
|
rs528271447
|
0.00005
|
NM_001367624.2(ZNF469):c.4947G>A (p.Ala1649=)
|
rs770986542
|
0.00005
|
NM_001370466.1(NOD2):c.1233C>A (p.Ile411=)
|
rs773440974
|
0.00005
|
NM_001370466.1(NOD2):c.1308C>T (p.Pro436=)
|
rs200656015
|
0.00005
|
NM_001370466.1(NOD2):c.403G>A (p.Val135Ile)
|
rs139571975
|
0.00005
|
NM_001370466.1(NOD2):c.789C>T (p.Asp263=)
|
rs749180535
|
0.00005
|
NM_001370466.1(NOD2):c.78C>T (p.Phe26=)
|
rs769855133
|
0.00005
|
NM_001375808.2(LPIN2):c.1939-14T>C
|
rs370284164
|
0.00005
|
NM_001375808.2(LPIN2):c.1956C>T (p.His652=)
|
rs750220265
|
0.00005
|
NM_001558.4(IL10RA):c.1518G>A (p.Leu506=)
|
rs187556084
|
0.00005
|
NM_001558.4(IL10RA):c.954C>T (p.Asp318=)
|
rs759956227
|
0.00005
|
NM_001844.5(COL2A1):c.2163C>T (p.Leu721=)
|
rs141375467
|
0.00005
|
NM_001844.5(COL2A1):c.312A>G (p.Gly104=)
|
rs139205058
|
0.00005
|
NM_001852.4(COL9A2):c.230A>C (p.Asp77Ala)
|
rs200737977
|
0.00005
|
NM_001852.4(COL9A2):c.847-9G>A
|
rs201625720
|
0.00005
|
NM_001999.4(FBN2):c.1078+9C>T
|
rs371692018
|
0.00005
|
NM_001999.4(FBN2):c.1885A>G (p.Asn629Asp)
|
rs863223554
|
0.00005
|
NM_001999.4(FBN2):c.3149C>T (p.Thr1050Met)
|
rs150506063
|
0.00005
|
NM_001999.4(FBN2):c.3249G>T (p.Met1083Ile)
|
rs146143173
|
0.00005
|
NM_001999.4(FBN2):c.3584G>A (p.Arg1195His)
|
rs751600209
|
0.00005
|
NM_001999.4(FBN2):c.3690A>G (p.Gly1230=)
|
rs774807410
|
0.00005
|
NM_001999.4(FBN2):c.4328A>T (p.Asp1443Val)
|
rs751400994
|
0.00005
|
NM_001999.4(FBN2):c.4773G>T (p.Leu1591=)
|
rs753387547
|
0.00005
|
NM_001999.4(FBN2):c.5494C>T (p.Arg1832Cys)
|
rs778519094
|
0.00005
|
NM_001999.4(FBN2):c.5674+18T>G
|
rs199749609
|
0.00005
|
NM_002451.4(MTAP):c.788G>T (p.Trp263Leu)
|
rs373274501
|
0.00005
|
NM_002609.4(PDGFRB):c.968G>A (p.Gly323Asp)
|
rs374208706
|
0.00005
|
NM_002661.5(PLCG2):c.1073-14G>A
|
rs766112706
|
0.00005
|
NM_002661.5(PLCG2):c.1073-15C>T
|
rs371214101
|
0.00005
|
NM_002661.5(PLCG2):c.1464C>T (p.Asp488=)
|
rs777149251
|
0.00005
|
NM_002661.5(PLCG2):c.1662G>A (p.Thr554=)
|
rs771756610
|
0.00005
|
NM_002661.5(PLCG2):c.1698C>T (p.Ser566=)
|
rs11548654
|
0.00005
|
NM_002661.5(PLCG2):c.323C>T (p.Thr108Met)
|
rs535715020
|
0.00005
|
NM_002661.5(PLCG2):c.3306G>A (p.Thr1102=)
|
rs372282607
|
0.00005
|
NM_002661.5(PLCG2):c.3571-10C>T
|
rs376240742
|
0.00005
|
NM_003036.4(SKI):c.1096-5G>A
|
rs566936949
|
0.00005
|
NM_003036.4(SKI):c.1212-15C>T
|
rs200904079
|
0.00005
|
NM_003036.4(SKI):c.1212-8C>T
|
rs370921440
|
0.00005
|
NM_003036.4(SKI):c.1242C>T (p.Ala414=)
|
rs757550300
|
0.00005
|
NM_003036.4(SKI):c.1263C>T (p.Leu421=)
|
rs773045410
|
0.00005
|
NM_003036.4(SKI):c.450C>T (p.Cys150=)
|
rs538703800
|
0.00005
|
NM_003036.4(SKI):c.994A>G (p.Ile332Val)
|
rs374264201
|
0.00005
|
NM_003183.6(ADAM17):c.957+15C>G
|
rs143463120
|
0.00005
|
NM_003238.6(TGFB2):c.1008C>T (p.His336=)
|
rs886038528
|
0.00005
|
NM_003978.5(PSTPIP1):c.-123G>A
|
rs771172891
|
0.00005
|
NM_003978.5(PSTPIP1):c.1104C>T (p.Tyr368=)
|
rs368373680
|
0.00005
|
NM_003978.5(PSTPIP1):c.1222G>A (p.Val408Ile)
|
rs750572947
|
0.00005
|
NM_003978.5(PSTPIP1):c.212+13G>A
|
rs375295026
|
0.00005
|
NM_003978.5(PSTPIP1):c.411C>A (p.Ala137=)
|
rs368114895
|
0.00005
|
NM_004364.5(CEBPA):c.582G>A (p.Pro194=)
|
rs1202509655
|
0.00005
|
NM_004371.4(COPA):c.1219+16G>A
|
rs372325156
|
0.00005
|
NM_004371.4(COPA):c.1388A>G (p.Asn463Ser)
|
rs766188508
|
0.00005
|
NM_004371.4(COPA):c.3151C>G (p.Gln1051Glu)
|
rs369330981
|
0.00005
|
NM_004371.4(COPA):c.3421-11C>G
|
rs540654667
|
0.00005
|
NM_004371.4(COPA):c.3483C>T (p.Asp1161=)
|
rs376400505
|
0.00005
|
NM_004612.4(TGFBR1):c.*1710G>A
|
rs200197062
|
0.00005
|
NM_005373.3(MPL):c.1002C>T (p.Cys334=)
|
rs141526418
|
0.00005
|
NM_005373.3(MPL):c.173C>T (p.Ala58Val)
|
rs6087
|
0.00005
|
NM_005902.4(SMAD3):c.607+9T>A
|
rs886051380
|
0.00005
|
NM_006397.3(RNASEH2A):c.127+16C>T
|
rs780296539
|
0.00005
|
NM_006397.3(RNASEH2A):c.323+20G>A
|
rs534725116
|
0.00005
|
NM_006397.3(RNASEH2A):c.550-17G>A
|
rs372001384
|
0.00005
|
NM_012275.3(IL36RN):c.240A>G (p.Leu80=)
|
rs148271084
|
0.00005
|
NM_015474.4(SAMHD1):c.114C>G (p.Leu38=)
|
rs757642528
|
0.00005
|
NM_015474.4(SAMHD1):c.1848C>T (p.Ser616=)
|
rs372533307
|
0.00005
|
NM_017617.5(NOTCH1):c.7229C>T (p.Pro2410Leu)
|
rs560981171
|
0.00005
|
NM_020800.3(IFT80):c.2156G>A (p.Arg719His)
|
rs551983792
|
0.00005
|
NM_022168.4(IFIH1):c.1134A>T (p.Gln378His)
|
rs750443621
|
0.00005
|
NM_022168.4(IFIH1):c.1692T>C (p.Tyr564=)
|
rs376996345
|
0.00005
|
NM_022168.4(IFIH1):c.1694G>T (p.Cys565Phe)
|
rs560193080
|
0.00005
|
NM_022168.4(IFIH1):c.1716T>C (p.Asp572=)
|
rs760261449
|
0.00005
|
NM_022168.4(IFIH1):c.261C>T (p.Gly87=)
|
rs775555538
|
0.00005
|
NM_022168.4(IFIH1):c.2811A>G (p.Glu937=)
|
rs759715693
|
0.00005
|
NM_022168.4(IFIH1):c.858C>G (p.Thr286=)
|
rs567681295
|
0.00005
|
NM_024408.4(NOTCH2):c.1915+12C>T
|
rs375927260
|
0.00005
|
NM_024408.4(NOTCH2):c.2816C>T (p.Pro939Leu)
|
rs201100122
|
0.00005
|
NM_024408.4(NOTCH2):c.6140G>A (p.Arg2047Gln)
|
rs371060516
|
0.00005
|
NM_031229.4(RBCK1):c.1308+19C>T
|
rs554956050
|
0.00005
|
NM_032193.4(RNASEH2C):c.69C>T (p.Asp23=)
|
rs749020058
|
0.00005
|
NM_033629.6(TREX1):c.24G>A (p.Pro8=)
|
rs147463121
|
0.00005
|
NM_033629.6(TREX1):c.387C>T (p.Tyr129=)
|
rs202025490
|
0.00005
|
NM_033629.6(TREX1):c.513C>T (p.His171=)
|
rs531660451
|
0.00005
|
NM_080425.4(GNAS):c.1462G>A (p.Ala488Thr)
|
rs552813440
|
0.00005
|
NM_080628.3(TLDC2):c.*239dup
|
rs762361576
|
0.00005
|
NM_080680.3(COL11A2):c.4662C>T (p.Ile1554=)
|
rs375518774
|
0.00005
|
NM_144687.4(NLRP12):c.2072+16G>T
|
rs372430161
|
0.00005
|
NM_144687.4(NLRP12):c.2073-3C>A
|
rs756794505
|
0.00005
|
NM_173842.3(IL1RN):c.447G>A (p.Ala149=)
|
rs111516567
|
0.00005
|
NM_198282.4(STING1):c.720C>T (p.Tyr240=)
|
rs766079687
|
0.00005
|
NM_198282.4(STING1):c.971C>T (p.Ser324Leu)
|
rs772018436
|
0.00005
|
NM_207122.2(EXT2):c.1341G>A (p.Pro447=)
|
rs774039598
|
0.00005
|
NM_207122.2(EXT2):c.284G>A (p.Arg95His)
|
rs143703574
|
0.00005
|
NM_207122.2(EXT2):c.588C>T (p.Pro196=)
|
rs200009614
|
0.00005
|
NM_207122.2(EXT2):c.8C>T (p.Ala3Val)
|
rs201185639
|
0.00005
|
NM_212482.4(FN1):c.1053C>T (p.Tyr351=)
|
rs202133752
|
0.00005
|
NM_212482.4(FN1):c.3187A>G (p.Thr1063Ala)
|
rs752617883
|
0.00005
|
NM_212482.4(FN1):c.4626G>A (p.Pro1542=)
|
rs142628915
|
0.00005
|
NM_000038.6(APC):c.1242C>T (p.Arg414=)
|
rs751423790
|
0.00004
|
NM_000088.4(COL1A1):c.2235+15C>T
|
rs754442679
|
0.00004
|
NM_000089.4(COL1A2):c.48C>T (p.Thr16=)
|
rs780687409
|
0.00004
|
NM_000127.3(EXT1):c.1695C>T (p.Asp565=)
|
rs762218262
|
0.00004
|
NM_000127.3(EXT1):c.1743G>A (p.Val581=)
|
rs375284779
|
0.00004
|
NM_000127.3(EXT1):c.591C>T (p.Ser197=)
|
rs770795716
|
0.00004
|
NM_000127.3(EXT1):c.609C>T (p.Tyr203=)
|
rs886042484
|
0.00004
|
NM_000138.5(FBN1):c.*1325T>C
|
rs569152308
|
0.00004
|
NM_000138.5(FBN1):c.1116C>T (p.Val372=)
|
rs774193938
|
0.00004
|
NM_000138.5(FBN1):c.1242T>G (p.Pro414=)
|
rs371929738
|
0.00004
|
NM_000138.5(FBN1):c.1290A>G (p.Pro430=)
|
rs749526018
|
0.00004
|
NM_000138.5(FBN1):c.1602T>C (p.Cys534=)
|
rs377386372
|
0.00004
|
NM_000138.5(FBN1):c.1880G>A (p.Arg627His)
|
rs746073643
|
0.00004
|
NM_000138.5(FBN1):c.1884C>T (p.Cys628=)
|
rs150421653
|
0.00004
|
NM_000138.5(FBN1):c.2075T>A (p.Phe692Tyr)
|
rs955639059
|
0.00004
|
NM_000138.5(FBN1):c.2168-19G>T
|
rs777612162
|
0.00004
|
NM_000138.5(FBN1):c.2168-6G>A
|
rs200924505
|
0.00004
|
NM_000138.5(FBN1):c.2419+13T>A
|
rs372885314
|
0.00004
|
NM_000138.5(FBN1):c.2596A>G (p.Ile866Val)
|
rs794728329
|
0.00004
|
NM_000138.5(FBN1):c.2600A>G (p.Asn867Ser)
|
rs145464311
|
0.00004
|
NM_000138.5(FBN1):c.2637C>T (p.Leu879=)
|
rs202163602
|
0.00004
|
NM_000138.5(FBN1):c.2753C>G (p.Pro918Arg)
|
rs557798071
|
0.00004
|
NM_000138.5(FBN1):c.3246C>T (p.Gly1082=)
|
rs138855754
|
0.00004
|
NM_000138.5(FBN1):c.3295G>A (p.Glu1099Lys)
|
rs763485521
|
0.00004
|
NM_000138.5(FBN1):c.3415G>C (p.Glu1139Gln)
|
rs780972853
|
0.00004
|
NM_000138.5(FBN1):c.3462C>T (p.Ile1154=)
|
rs144339604
|
0.00004
|
NM_000138.5(FBN1):c.347-15T>C
|
rs749417882
|
0.00004
|
NM_000138.5(FBN1):c.3503A>G (p.Asn1168Ser)
|
rs776667707
|
0.00004
|
NM_000138.5(FBN1):c.3837A>G (p.Val1279=)
|
rs59007872
|
0.00004
|
NM_000138.5(FBN1):c.3838+20T>C
|
rs772287702
|
0.00004
|
NM_000138.5(FBN1):c.3896C>T (p.Thr1299Met)
|
rs774851476
|
0.00004
|
NM_000138.5(FBN1):c.405A>G (p.Leu135=)
|
rs187254268
|
0.00004
|
NM_000138.5(FBN1):c.4095C>T (p.Asp1365=)
|
rs375402043
|
0.00004
|
NM_000138.5(FBN1):c.4163G>A (p.Arg1388His)
|
rs749196340
|
0.00004
|
NM_000138.5(FBN1):c.4336+7G>T
|
rs760603409
|
0.00004
|
NM_000138.5(FBN1):c.4337-9C>T
|
rs201001403
|
0.00004
|
NM_000138.5(FBN1):c.4371C>T (p.Val1457=)
|
rs781641370
|
0.00004
|
NM_000138.5(FBN1):c.4804G>A (p.Val1602Ile)
|
rs780957696
|
0.00004
|
NM_000138.5(FBN1):c.492T>C (p.Asn164=)
|
rs778007582
|
0.00004
|
NM_000138.5(FBN1):c.538+4A>G
|
rs375721252
|
0.00004
|
NM_000138.5(FBN1):c.5442C>T (p.Asn1814=)
|
rs397515822
|
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.6052G>A (p.Val2018Ile)
|
rs363802
|
0.00004
|
NM_000138.5(FBN1):c.6055G>A (p.Glu2019Lys)
|
rs377149130
|
0.00004
|
NM_000138.5(FBN1):c.6497-11G>A
|
rs183200505
|
0.00004
|
NM_000138.5(FBN1):c.7210G>A (p.Asp2404Asn)
|
rs530059069
|
0.00004
|
NM_000138.5(FBN1):c.7230C>T (p.His2410=)
|
rs193922231
|
0.00004
|
NM_000138.5(FBN1):c.7700-13G>C
|
rs775509707
|
0.00004
|
NM_000138.5(FBN1):c.7819+15C>T
|
rs772164887
|
0.00004
|
NM_000138.5(FBN1):c.8004C>T (p.Gly2668=)
|
rs371285755
|
0.00004
|
NM_000138.5(FBN1):c.8542A>C (p.Lys2848Gln)
|
rs199846998
|
0.00004
|
NM_000138.5(FBN1):c.985A>G (p.Ile329Val)
|
rs370955295
|
0.00004
|
NM_000222.3(KIT):c.840G>C (p.Ala280=)
|
rs142772432
|
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.1587+7G>A
|
rs375555497
|
0.00004
|
NM_000243.3(MEFV):c.1776C>T (p.Gly592=)
|
rs104895161
|
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.611G>A (p.Arg204His)
|
rs775663363
|
0.00004
|
NM_000243.3(MEFV):c.759G>A (p.Ala253=)
|
rs936508032
|
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_000302.4(PLOD1):c.1026C>T (p.Ser342=)
|
rs140159343
|
0.00004
|
NM_000302.4(PLOD1):c.1302C>T (p.Tyr434=)
|
rs759448456
|
0.00004
|
NM_000302.4(PLOD1):c.1471-18C>T
|
rs368968576
|
0.00004
|
NM_000302.4(PLOD1):c.1584+10G>A
|
rs756917169
|
0.00004
|
NM_000302.4(PLOD1):c.1629G>C (p.Leu543=)
|
rs764355890
|
0.00004
|
NM_000302.4(PLOD1):c.243G>A (p.Leu81=)
|
rs371574381
|
0.00004
|
NM_000302.4(PLOD1):c.30G>C (p.Leu10=)
|
rs886039113
|
0.00004
|
NM_000302.4(PLOD1):c.438C>T (p.Ser146=)
|
rs765725567
|
0.00004
|
NM_000302.4(PLOD1):c.742-5G>A
|
rs746658625
|
0.00004
|
NM_000302.4(PLOD1):c.930G>A (p.Arg310=)
|
rs751800110
|
0.00004
|
NM_000393.5(COL5A2):c.3567C>A (p.Asn1189Lys)
|
rs745845130
|
0.00004
|
NM_000431.4(MVK):c.1039+7C>T
|
rs370291700
|
0.00004
|
NM_000431.4(MVK):c.297C>T (p.Asp99=)
|
rs376323791
|
0.00004
|
NM_000431.4(MVK):c.349C>T (p.Leu117=)
|
rs374204972
|
0.00004
|
NM_000431.4(MVK):c.681G>A (p.Ser227=)
|
rs764412001
|
0.00004
|
NM_000431.4(MVK):c.78+7_78+10del
|
rs771523264
|
0.00004
|
NM_000431.4(MVK):c.864G>A (p.Pro288=)
|
rs149708247
|
0.00004
|
NM_000435.3(NOTCH3):c.825G>A (p.Val275=)
|
rs138837495
|
0.00004
|
NM_000516.7(GNAS):c.684C>T (p.Arg228=)
|
rs147984566
|
0.00004
|
NM_000516.7(GNAS):c.936T>C (p.Phe312=)
|
rs764458531
|
0.00004
|
NM_000628.5(IL10RB):c.332-5del
|
rs746600389
|
0.00004
|
NM_000628.5(IL10RB):c.49+12G>A
|
rs1210693349
|
0.00004
|
NM_000628.5(IL10RB):c.50-4A>G
|
rs377541013
|
0.00004
|
NM_001032283.3(TMPO):c.270C>G (p.Ala90=)
|
rs538702194
|
0.00004
|
NM_001032283.3(TMPO):c.280-8G>A
|
rs943754313
|
0.00004
|
NM_001032283.3(TMPO):c.565+1277G>A
|
rs766680788
|
0.00004
|
NM_001032283.3(TMPO):c.565+1304T>A
|
rs142500409
|
0.00004
|
NM_001032283.3(TMPO):c.565+1574G>A
|
rs756784841
|
0.00004
|
NM_001032283.3(TMPO):c.565+1958G>T
|
rs143845319
|
0.00004
|
NM_001042492.3(NF1):c.2592C>T (p.Ser864=)
|
rs761499485
|
0.00004
|
NM_001042492.3(NF1):c.3708+11A>C
|
rs373751277
|
0.00004
|
NM_001042492.3(NF1):c.4835+13A>G
|
rs1034258238
|
0.00004
|
NM_001042492.3(NF1):c.4835+14T>C
|
rs758851307
|
0.00004
|
NM_001042492.3(NF1):c.5664C>T (p.Ile1888=)
|
rs373685150
|
0.00004
|
NM_001042492.3(NF1):c.5925T>C (p.Leu1975=)
|
rs375776474
|
0.00004
|
NM_001042492.3(NF1):c.61-9T>C
|
rs780956522
|
0.00004
|
NM_001042492.3(NF1):c.6360T>C (p.Ala2120=)
|
rs371578074
|
0.00004
|
NM_001111.5(ADAR):c.1137A>C (p.Ala379=)
|
rs757766736
|
0.00004
|
NM_001111.5(ADAR):c.1401C>T (p.Arg467=)
|
rs765068066
|
0.00004
|
NM_001111.5(ADAR):c.15+9G>A
|
rs749243606
|
0.00004
|
NM_001111.5(ADAR):c.165G>A (p.Pro55=)
|
rs570176840
|
0.00004
|
NM_001111.5(ADAR):c.2241C>T (p.Val747=)
|
rs780746416
|
0.00004
|
NM_001111.5(ADAR):c.2319C>T (p.Cys773=)
|
rs750666914
|
0.00004
|
NM_001111.5(ADAR):c.2598C>G (p.Arg866=)
|
rs749389266
|
0.00004
|
NM_001111.5(ADAR):c.2649C>T (p.Val883=)
|
rs200989942
|
0.00004
|
NM_001111.5(ADAR):c.2762+10G>A
|
rs879809934
|
0.00004
|
NM_001111.5(ADAR):c.3199T>C (p.Leu1067=)
|
rs758120128
|
0.00004
|
NM_001111.5(ADAR):c.3316-8A>C
|
rs767832906
|
0.00004
|
NM_001111.5(ADAR):c.3354C>T (p.Ser1118=)
|
rs764381126
|
0.00004
|
NM_001111.5(ADAR):c.675G>A (p.Pro225=)
|
rs771459105
|
0.00004
|
NM_001122681.2(SH3BP2):c.1326C>T (p.Asp442=)
|
rs761864704
|
0.00004
|
NM_001122681.2(SH3BP2):c.1351-13C>T
|
rs367963191
|
0.00004
|
NM_001122681.2(SH3BP2):c.1351-15G>A
|
rs374658620
|
0.00004
|
NM_001122681.2(SH3BP2):c.1374C>T (p.Phe458=)
|
rs748346628
|
0.00004
|
NM_001122681.2(SH3BP2):c.240-14C>T
|
rs763517516
|
0.00004
|
NM_001122681.2(SH3BP2):c.428+8C>T
|
rs777175847
|
0.00004
|
NM_001122681.2(SH3BP2):c.491T>G (p.Leu164Arg)
|
rs774240293
|
0.00004
|
NM_001122681.2(SH3BP2):c.517+15C>T
|
rs755317801
|
0.00004
|
NM_001122681.2(SH3BP2):c.528C>T (p.His176=)
|
rs138986397
|
0.00004
|
NM_001122681.2(SH3BP2):c.587-20C>T
|
rs112730511
|
0.00004
|
NM_001122681.2(SH3BP2):c.6G>A (p.Ala2=)
|
rs376112456
|
0.00004
|
NM_001171.6(ABCC6):c.2058C>T (p.Phe686=)
|
rs57866002
|
0.00004
|
NM_001171.6(ABCC6):c.2397T>G (p.Gly799=)
|
rs770859081
|
0.00004
|
NM_001171.6(ABCC6):c.3870C>T (p.His1290=)
|
rs760304927
|
0.00004
|
NM_001199138.2(NLRC4):c.1044G>A (p.Gln348=)
|
rs567746291
|
0.00004
|
NM_001199138.2(NLRC4):c.2257+10A>G
|
rs751142560
|
0.00004
|
NM_001199138.2(NLRC4):c.240A>G (p.Leu80=)
|
rs752238600
|
0.00004
|
NM_001199138.2(NLRC4):c.2614+9G>A
|
rs963291466
|
0.00004
|
NM_001199138.2(NLRC4):c.263-15C>A
|
rs762666722
|
0.00004
|
NM_001243133.2(NLRP3):c.1090C>A (p.Arg364=)
|
rs994458759
|
0.00004
|
NM_001243133.2(NLRP3):c.1116C>T (p.Ser372=)
|
rs374056197
|
0.00004
|
NM_001243133.2(NLRP3):c.1758G>A (p.Arg586=)
|
rs531595697
|
0.00004
|
NM_001243133.2(NLRP3):c.1780T>C (p.Leu594=)
|
rs895366086
|
0.00004
|
NM_001243133.2(NLRP3):c.2151-9A>C
|
rs762817427
|
0.00004
|
NM_001243133.2(NLRP3):c.220G>A (p.Ala74Thr)
|
rs537715421
|
0.00004
|
NM_001243133.2(NLRP3):c.2322-20C>A
|
rs755147649
|
0.00004
|
NM_001243133.2(NLRP3):c.2493-11C>G
|
rs1305081477
|
0.00004
|
NM_001243133.2(NLRP3):c.270G>T (p.Pro90=)
|
rs771343047
|
0.00004
|
NM_001243133.2(NLRP3):c.2835-7T>G
|
rs747303698
|
0.00004
|
NM_001243133.2(NLRP3):c.476G>T (p.Ser159Ile)
|
rs374170024
|
0.00004
|
NM_001243133.2(NLRP3):c.888C>G (p.Leu296=)
|
rs201885551
|
0.00004
|
NM_001282225.2(ADA2):c.1176C>T (p.Pro392=)
|
rs367563832
|
0.00004
|
NM_001282225.2(ADA2):c.1239+9G>A
|
rs752313204
|
0.00004
|
NM_001282225.2(ADA2):c.708C>T (p.Tyr236=)
|
rs200287863
|
0.00004
|
NM_001282225.2(ADA2):c.72C>T (p.Phe24=)
|
rs374752508
|
0.00004
|
NM_001370466.1(NOD2):c.1088A>T (p.Asp363Val)
|
rs769622495
|
0.00004
|
NM_001370466.1(NOD2):c.1161C>T (p.Asn387=)
|
rs937713503
|
0.00004
|
NM_001370466.1(NOD2):c.1322G>A (p.Arg441His)
|
rs775728252
|
0.00004
|
NM_001370466.1(NOD2):c.132C>T (p.Tyr44=)
|
rs754402504
|
0.00004
|
NM_001370466.1(NOD2):c.1395G>A (p.Val465=)
|
rs781421828
|
0.00004
|
NM_001370466.1(NOD2):c.1540C>T (p.Arg514Trp)
|
rs576658764
|
0.00004
|
NM_001370466.1(NOD2):c.1894G>A (p.Val632Met)
|
rs570167996
|
0.00004
|
NM_001370466.1(NOD2):c.1917C>T (p.Ala639=)
|
rs374171106
|
0.00004
|
NM_001370466.1(NOD2):c.2024G>A (p.Arg675Gln)
|
rs139104022
|
0.00004
|
NM_001370466.1(NOD2):c.2088G>A (p.Pro696=)
|
rs754856212
|
0.00004
|
NM_001370466.1(NOD2):c.2284C>T (p.Leu762Phe)
|
rs773758818
|
0.00004
|
NM_001370466.1(NOD2):c.2408G>A (p.Arg803Gln)
|
rs770915641
|
0.00004
|
NM_001370466.1(NOD2):c.2565C>T (p.Tyr855=)
|
rs766014518
|
0.00004
|
NM_001370466.1(NOD2):c.2631G>A (p.Leu877=)
|
rs142559533
|
0.00004
|
NM_001370466.1(NOD2):c.2736T>C (p.Ile912=)
|
rs104895454
|
0.00004
|
NM_001370466.1(NOD2):c.2844C>T (p.Leu948=)
|
rs104895463
|
0.00004
|
NM_001370466.1(NOD2):c.606G>A (p.Thr202=)
|
rs771003092
|
0.00004
|
NM_001370466.1(NOD2):c.653C>T (p.Thr218Met)
|
rs148516118
|
0.00004
|
NM_001375808.2(LPIN2):c.1122A>G (p.Ser374=)
|
rs748347465
|
0.00004
|
NM_001375808.2(LPIN2):c.1168+7G>A
|
rs370807298
|
0.00004
|
NM_001375808.2(LPIN2):c.1281C>T (p.Pro427=)
|
rs778559792
|
0.00004
|
NM_001375808.2(LPIN2):c.1797G>A (p.Pro599=)
|
rs772568696
|
0.00004
|
NM_001375808.2(LPIN2):c.193-18A>T
|
rs748188345
|
0.00004
|
NM_001375808.2(LPIN2):c.2088-10G>A
|
rs374043211
|
0.00004
|
NM_001558.4(IL10RA):c.1539G>A (p.Thr513=)
|
rs372503247
|
0.00004
|
NM_001558.4(IL10RA):c.172G>A (p.Glu58Lys)
|
rs572945136
|
0.00004
|
NM_001558.4(IL10RA):c.378A>T (p.Thr126=)
|
rs754713909
|
0.00004
|
NM_001558.4(IL10RA):c.67+15C>T
|
rs886047708
|
0.00004
|
NM_001558.4(IL10RA):c.811-13C>T
|
rs896935087
|
0.00004
|
NM_001611.5(ACP5):c.389+15G>T
|
rs562918956
|
0.00004
|
NM_001611.5(ACP5):c.636C>T (p.Ala212=)
|
rs368852148
|
0.00004
|
NM_001754.5(RUNX1):c.1338C>T (p.Leu446=)
|
rs769628054
|
0.00004
|
NM_001844.5(COL2A1):c.3150C>T (p.Gly1050=)
|
rs376722458
|
0.00004
|
NM_001844.5(COL2A1):c.4014C>T (p.Ser1338=)
|
rs939449148
|
0.00004
|
NM_001844.5(COL2A1):c.969+13A>G
|
rs752733598
|
0.00004
|
NM_001972.4(ELANE):c.568G>A (p.Val190Met)
|
rs367663236
|
0.00004
|
NM_001999.4(FBN2):c.1078+12A>C
|
rs769211487
|
0.00004
|
NM_001999.4(FBN2):c.1140G>A (p.Pro380=)
|
rs532059159
|
0.00004
|
NM_001999.4(FBN2):c.1195G>A (p.Gly399Arg)
|
rs142228933
|
0.00004
|
NM_001999.4(FBN2):c.1968T>C (p.Cys656=)
|
rs750685055
|
0.00004
|
NM_001999.4(FBN2):c.202G>T (p.Ala68Ser)
|
rs767317022
|
0.00004
|
NM_001999.4(FBN2):c.2358C>T (p.Asn786=)
|
rs371981691
|
0.00004
|
NM_001999.4(FBN2):c.2555-6T>C
|
rs376507178
|
0.00004
|
NM_001999.4(FBN2):c.2812+7G>A
|
rs373320057
|
0.00004
|
NM_001999.4(FBN2):c.3393C>T (p.Cys1131=)
|
rs760695805
|
0.00004
|
NM_001999.4(FBN2):c.3511G>A (p.Gly1171Ser)
|
rs775844150
|
0.00004
|
NM_001999.4(FBN2):c.3701C>T (p.Thr1234Met)
|
rs368105987
|
0.00004
|
NM_001999.4(FBN2):c.377G>A (p.Arg126His)
|
rs528614556
|
0.00004
|
NM_001999.4(FBN2):c.3805A>G (p.Ser1269Gly)
|
rs765649978
|
0.00004
|
NM_001999.4(FBN2):c.3920G>A (p.Arg1307His)
|
rs139428175
|
0.00004
|
NM_001999.4(FBN2):c.4222+10C>A
|
rs376700480
|
0.00004
|
NM_001999.4(FBN2):c.4297C>T (p.Arg1433Cys)
|
rs374493286
|
0.00004
|
NM_001999.4(FBN2):c.4724G>A (p.Arg1575His)
|
rs776040052
|
0.00004
|
NM_001999.4(FBN2):c.5200+11A>C
|
rs863223545
|
0.00004
|
NM_001999.4(FBN2):c.5681A>G (p.Asn1894Ser)
|
rs750837082
|
0.00004
|
NM_001999.4(FBN2):c.5847A>G (p.Lys1949=)
|
rs751378266
|
0.00004
|
NM_001999.4(FBN2):c.6073G>A (p.Gly2025Ser)
|
rs772994944
|
0.00004
|
NM_001999.4(FBN2):c.6293-8T>A
|
rs375682913
|
0.00004
|
NM_001999.4(FBN2):c.645G>A (p.Pro215=)
|
rs764473594
|
0.00004
|
NM_001999.4(FBN2):c.704C>T (p.Thr235Met)
|
rs367767903
|
0.00004
|
NM_001999.4(FBN2):c.7339G>A (p.Gly2447Arg)
|
rs764998447
|
0.00004
|
NM_001999.4(FBN2):c.7719C>T (p.Asn2573=)
|
rs746265117
|
0.00004
|
NM_001999.4(FBN2):c.7878C>T (p.His2626=)
|
rs587780943
|
0.00004
|
NM_001999.4(FBN2):c.8168C>T (p.Pro2723Leu)
|
rs746473847
|
0.00004
|
NM_001999.4(FBN2):c.8193-13T>C
|
rs376023293
|
0.00004
|
NM_001999.4(FBN2):c.8193-19C>T
|
rs771472324
|
0.00004
|
NM_001999.4(FBN2):c.8406C>T (p.Pro2802=)
|
rs764836656
|
0.00004
|
NM_001999.4(FBN2):c.8444A>C (p.Lys2815Thr)
|
rs757028268
|
0.00004
|
NM_001999.4(FBN2):c.8678A>T (p.Asp2893Val)
|
rs863223615
|
0.00004
|
NM_001999.4(FBN2):c.968G>A (p.Ser323Asn)
|
rs747748647
|
0.00004
|
NM_002451.4(MTAP):c.603G>A (p.Glu201=)
|
rs189392570
|
0.00004
|
NM_002474.3(MYH11):c.3836A>G (p.Asn1279Ser)
|
rs767533401
|
0.00004
|
NM_002609.4(PDGFRB):c.1243+18C>T
|
rs199897509
|
0.00004
|
NM_002609.4(PDGFRB):c.1536C>T (p.Asn512=)
|
rs186555112
|
0.00004
|
NM_002609.4(PDGFRB):c.2268C>T (p.Asp756=)
|
rs56112987
|
0.00004
|
NM_002609.4(PDGFRB):c.2484G>A (p.Ala828=)
|
rs143342011
|
0.00004
|
NM_002609.4(PDGFRB):c.2919G>A (p.Val973=)
|
rs370594710
|
0.00004
|
NM_002609.4(PDGFRB):c.3033C>T (p.Ala1011=)
|
rs375836509
|
0.00004
|
NM_002609.4(PDGFRB):c.330C>T (p.Thr110=)
|
rs755333624
|
0.00004
|
NM_002609.4(PDGFRB):c.331G>A (p.Asp111Asn)
|
rs558122968
|
0.00004
|
NM_002661.5(PLCG2):c.1073-17C>T
|
rs572040225
|
0.00004
|
NM_002661.5(PLCG2):c.1329G>A (p.Ser443=)
|
rs369281824
|
0.00004
|
NM_002661.5(PLCG2):c.1558-4C>A
|
rs1325379831
|
0.00004
|
NM_002661.5(PLCG2):c.183C>T (p.Ile61=)
|
rs553657822
|
0.00004
|
NM_002661.5(PLCG2):c.1875C>T (p.Ala625=)
|
rs753539229
|
0.00004
|
NM_002661.5(PLCG2):c.1935-5C>T
|
rs375362338
|
0.00004
|
NM_002661.5(PLCG2):c.2055-20C>A
|
rs563045009
|
0.00004
|
NM_002661.5(PLCG2):c.2301G>A (p.Pro767=)
|
rs374390386
|
0.00004
|
NM_002661.5(PLCG2):c.2469C>T (p.Tyr823=)
|
rs376517417
|
0.00004
|
NM_002661.5(PLCG2):c.2496C>T (p.Phe832=)
|
rs766166854
|
0.00004
|
NM_002661.5(PLCG2):c.2532C>T (p.Pro844=)
|
rs750111421
|
0.00004
|
NM_002661.5(PLCG2):c.2952C>T (p.Arg984=)
|
rs756557048
|
0.00004
|
NM_002661.5(PLCG2):c.2991C>T (p.Tyr997=)
|
rs772244129
|
0.00004
|
NM_002661.5(PLCG2):c.3150G>A (p.Pro1050=)
|
rs376070393
|
0.00004
|
NM_002661.5(PLCG2):c.3174G>A (p.Lys1058=)
|
rs528328625
|
0.00004
|
NM_002661.5(PLCG2):c.338-11C>T
|
rs371723456
|
0.00004
|
NM_002661.5(PLCG2):c.3420T>C (p.Asp1140=)
|
rs746749620
|
0.00004
|
NM_002661.5(PLCG2):c.3492C>T (p.Ser1164=)
|
rs187113357
|
0.00004
|
NM_002661.5(PLCG2):c.564+19C>T
|
rs564767670
|
0.00004
|
NM_002661.5(PLCG2):c.565-8A>T
|
rs781577904
|
0.00004
|
NM_002661.5(PLCG2):c.868-17G>A
|
rs774226038
|
0.00004
|
NM_002661.5(PLCG2):c.975G>A (p.Ser325=)
|
rs764831936
|
0.00004
|
NM_002834.5(PTPN11):c.14+11C>A
|
rs1486505121
|
0.00004
|
NM_003036.4(SKI):c.1080C>T (p.Ala360=)
|
rs200557598
|
0.00004
|
NM_003036.4(SKI):c.1096-6C>T
|
rs201304370
|
0.00004
|
NM_003036.4(SKI):c.1258G>A (p.Ala420Thr)
|
rs771862077
|
0.00004
|
NM_003036.4(SKI):c.1406C>T (p.Ala469Val)
|
rs746659856
|
0.00004
|
NM_003036.4(SKI):c.1456G>A (p.Val486Ile)
|
rs200717031
|
0.00004
|
NM_003036.4(SKI):c.1619C>T (p.Ala540Val)
|
rs764786977
|
0.00004
|
NM_003036.4(SKI):c.1711G>A (p.Val571Met)
|
rs190373826
|
0.00004
|
NM_003036.4(SKI):c.1767+12G>A
|
rs772577806
|
0.00004
|
NM_003036.4(SKI):c.227T>C (p.Leu76Pro)
|
rs753070477
|
0.00004
|
NM_003036.4(SKI):c.543C>T (p.Asp181=)
|
rs766957830
|
0.00004
|
NM_003036.4(SKI):c.696G>A (p.Leu232=)
|
rs748272908
|
0.00004
|
NM_003036.4(SKI):c.726C>T (p.Ala242=)
|
rs139227600
|
0.00004
|
NM_003036.4(SKI):c.978T>G (p.Ser326=)
|
rs759010691
|
0.00004
|
NM_003183.6(ADAM17):c.1192-9A>T
|
rs200534037
|
0.00004
|
NM_003183.6(ADAM17):c.1644C>T (p.Cys548=)
|
rs762867130
|
0.00004
|
NM_003183.6(ADAM17):c.309C>T (p.Asn103=)
|
rs761183996
|
0.00004
|
NM_003183.6(ADAM17):c.462A>G (p.Arg154=)
|
rs549352854
|
0.00004
|
NM_003183.6(ADAM17):c.97+8C>T
|
rs981616407
|
0.00004
|
NM_003238.6(TGFB2):c.1053G>A (p.Pro351=)
|
rs142741166
|
0.00004
|
NM_003238.6(TGFB2):c.555C>T (p.Ile185=)
|
rs760740958
|
0.00004
|
NM_003238.6(TGFB2):c.603C>T (p.Phe201=)
|
rs377264861
|
0.00004
|
NM_003238.6(TGFB2):c.984G>A (p.Arg328=)
|
rs147678881
|
0.00004
|
NM_003239.5(TGFB3):c.192C>T (p.His64=)
|
rs374423962
|
0.00004
|
NM_003239.5(TGFB3):c.213C>T (p.Ala71=)
|
rs753250192
|
0.00004
|
NM_003239.5(TGFB3):c.351C>T (p.His117=)
|
rs375232060
|
0.00004
|
NM_003239.5(TGFB3):c.519C>T (p.Ile173=)
|
rs754898843
|
0.00004
|
NM_003239.5(TGFB3):c.755-7T>G
|
rs750868828
|
0.00004
|
NM_003239.5(TGFB3):c.926+17A>G
|
rs374932970
|
0.00004
|
NM_003242.6(TGFBR2):c.*352A>G
|
rs565524213
|
0.00004
|
NM_003242.6(TGFBR2):c.*988C>T
|
rs138036906
|
0.00004
|
NM_003978.5(PSTPIP1):c.-120G>A
|
rs759583926
|
0.00004
|
NM_003978.5(PSTPIP1):c.1044C>T (p.Ile348=)
|
rs370740664
|
0.00004
|
NM_003978.5(PSTPIP1):c.159C>T (p.Tyr53=)
|
rs563906441
|
0.00004
|
NM_003978.5(PSTPIP1):c.213-16C>A
|
rs369508601
|
0.00004
|
NM_003978.5(PSTPIP1):c.687C>T (p.Asn229=)
|
rs542286074
|
0.00004
|
NM_003978.5(PSTPIP1):c.765G>A (p.Thr255=)
|
rs368685017
|
0.00004
|
NM_004364.5(CEBPA):c.330C>T (p.Gly110=)
|
rs1207839159
|
0.00004
|
NM_004364.5(CEBPA):c.387C>A (p.Pro129=)
|
rs1060504477
|
0.00004
|
NM_004364.5(CEBPA):c.882C>T (p.Ile294=)
|
rs376093748
|
0.00004
|
NM_004364.5(CEBPA):c.888G>A (p.Val296=)
|
rs772999335
|
0.00004
|
NM_004364.5(CEBPA):c.909C>T (p.Ala303=)
|
rs371444741
|
0.00004
|
NM_004371.4(COPA):c.1480G>A (p.Val494Ile)
|
rs750319602
|
0.00004
|
NM_004371.4(COPA):c.1714C>T (p.Arg572Trp)
|
rs777038735
|
0.00004
|
NM_004371.4(COPA):c.1992A>C (p.Ala664=)
|
rs139463368
|
0.00004
|
NM_004371.4(COPA):c.264A>G (p.Thr88=)
|
rs751570700
|
0.00004
|
NM_004371.4(COPA):c.2754+7G>A
|
rs750013875
|
0.00004
|
NM_004371.4(COPA):c.2960+19T>G
|
rs769851527
|
0.00004
|
NM_004371.4(COPA):c.2961-7T>C
|
rs758277547
|
0.00004
|
NM_004371.4(COPA):c.3423C>T (p.Thr1141=)
|
rs776753399
|
0.00004
|
NM_004371.4(COPA):c.387-19T>C
|
rs756312977
|
0.00004
|
NM_004371.4(COPA):c.706+18A>G
|
rs371634008
|
0.00004
|
NM_004371.4(COPA):c.926-15C>T
|
rs776843863
|
0.00004
|
NM_004752.4(GCM2):c.318C>T (p.Cys106=)
|
rs749600723
|
0.00004
|
NM_004944.4(DNASE1L3):c.360T>C (p.His120=)
|
rs146555960
|
0.00004
|
NM_004985.5(KRAS):c.451-5652C>T
|
rs727505314
|
0.00004
|
NM_005373.3(MPL):c.1629T>C (p.Leu543=)
|
rs150816330
|
0.00004
|
NM_005902.4(SMAD3):c.1125C>T (p.Ser375=)
|
rs144245324
|
0.00004
|
NM_006258.4(PRKG1):c.2049T>C (p.Asp683=)
|
rs771700923
|
0.00004
|
NM_006397.3(RNASEH2A):c.46C>T (p.Leu16=)
|
rs540611823
|
0.00004
|
NM_006397.3(RNASEH2A):c.489G>A (p.Thr163=)
|
rs533339996
|
0.00004
|
NM_006397.3(RNASEH2A):c.761+16G>A
|
rs558675752
|
0.00004
|
NM_006397.3(RNASEH2A):c.780G>A (p.Glu260=)
|
rs774054854
|
0.00004
|
NM_007194.4(CHEK2):c.847-10C>G
|
rs745745105
|
0.00004
|
NM_012275.3(IL36RN):c.306G>A (p.Arg102=)
|
rs143557954
|
0.00004
|
NM_012275.3(IL36RN):c.351G>A (p.Pro117=)
|
rs202161658
|
0.00004
|
NM_015474.4(SAMHD1):c.1242C>T (p.Asp414=)
|
rs151189478
|
0.00004
|
NM_015474.4(SAMHD1):c.208+8C>T
|
rs543987630
|
0.00004
|
NM_015474.4(SAMHD1):c.349-18T>C
|
rs372746139
|
0.00004
|
NM_015474.4(SAMHD1):c.93C>T (p.Asp31=)
|
rs754519810
|
0.00004
|
NM_015474.4(SAMHD1):c.993C>T (p.Tyr331=)
|
rs775726168
|
0.00004
|
NM_017668.3(NDE1):c.*631A>G
|
rs373371913
|
0.00004
|
NM_022168.4(IFIH1):c.1157G>A (p.Arg386His)
|
rs138611889
|
0.00004
|
NM_022168.4(IFIH1):c.1516A>G (p.Ile506Val)
|
rs535192485
|
0.00004
|
NM_022168.4(IFIH1):c.1524+9T>C
|
rs74162083
|
0.00004
|
NM_022168.4(IFIH1):c.1605A>G (p.Pro535=)
|
rs376364797
|
0.00004
|
NM_022168.4(IFIH1):c.1609A>G (p.Lys537Glu)
|
rs374396452
|
0.00004
|
NM_022168.4(IFIH1):c.1641+13T>C
|
rs558545015
|
0.00004
|
NM_022168.4(IFIH1):c.1642-8A>G
|
rs772580594
|
0.00004
|
NM_022168.4(IFIH1):c.2049C>T (p.Asn683=)
|
rs753209427
|
0.00004
|
NM_022168.4(IFIH1):c.2414T>G (p.Ile805Ser)
|
rs753623939
|
0.00004
|
NM_022168.4(IFIH1):c.2839C>T (p.Leu947=)
|
rs931561363
|
0.00004
|
NM_022168.4(IFIH1):c.770-18A>C
|
rs531825087
|
0.00004
|
NM_022168.4(IFIH1):c.891A>C (p.Ala297=)
|
rs373450188
|
0.00004
|
NM_023110.3(FGFR1):c.621+7G>T
|
rs377200873
|
0.00004
|
NM_023110.3(FGFR1):c.92-14C>T
|
rs547772178
|
0.00004
|
NM_024408.4(NOTCH2):c.1109-12A>C
|
rs782601589
|
0.00004
|
NM_024408.4(NOTCH2):c.1158G>A (p.Lys386=)
|
rs781863099
|
0.00004
|
NM_024408.4(NOTCH2):c.3759G>A (p.Leu1253=)
|
rs143045192
|
0.00004
|
NM_024408.4(NOTCH2):c.4740G>A (p.Lys1580=)
|
rs367699419
|
0.00004
|
NM_024408.4(NOTCH2):c.5217T>C (p.Asn1739=)
|
rs768669808
|
0.00004
|
NM_024408.4(NOTCH2):c.5218C>A (p.Leu1740Ile)
|
rs747138507
|
0.00004
|
NM_024408.4(NOTCH2):c.5775C>T (p.Val1925=)
|
rs368986104
|
0.00004
|
NM_024408.4(NOTCH2):c.5958T>C (p.Ala1986=)
|
rs563486507
|
0.00004
|
NM_024408.4(NOTCH2):c.6711T>C (p.Ser2237=)
|
rs369394477
|
0.00004
|
NM_024408.4(NOTCH2):c.875-9C>G
|
rs1324363153
|
0.00004
|
NM_024570.4(RNASEH2B):c.322-5T>G
|
rs761515995
|
0.00004
|
NM_024570.4(RNASEH2B):c.576T>G (p.Thr192=)
|
rs780872918
|
0.00004
|
NM_024570.4(RNASEH2B):c.65-14C>T
|
rs779646425
|
0.00004
|
NM_024570.4(RNASEH2B):c.828T>C (p.Asn276=)
|
rs950747194
|
0.00004
|
NM_030777.4(SLC2A10):c.1203C>T (p.Pro401=)
|
rs368021257
|
0.00004
|
NM_030777.4(SLC2A10):c.1234G>A (p.Ala412Thr)
|
rs746203433
|
0.00004
|
NM_030777.4(SLC2A10):c.807C>T (p.Ala269=)
|
rs144705080
|
0.00004
|
NM_030777.4(SLC2A10):c.924C>T (p.Ala308=)
|
rs377173165
|
0.00004
|
NM_031229.4(RBCK1):c.1356C>T (p.Ile452=)
|
rs746385953
|
0.00004
|
NM_031229.4(RBCK1):c.1374C>T (p.Asp458=)
|
rs780494996
|
0.00004
|
NM_031229.4(RBCK1):c.1428C>T (p.Thr476=)
|
rs375635112
|
0.00004
|
NM_031229.4(RBCK1):c.513C>G (p.Gly171=)
|
rs777854248
|
0.00004
|
NM_031229.4(RBCK1):c.69T>G (p.Asp23Glu)
|
rs748386516
|
0.00004
|
NM_032193.4(RNASEH2C):c.349-16C>T
|
rs199868316
|
0.00004
|
NM_033629.6(TREX1):c.471T>G (p.Thr157=)
|
rs751022472
|
0.00004
|
NM_033629.6(TREX1):c.473C>T (p.Ala158Val)
|
rs762011967
|
0.00004
|
NM_080425.4(GNAS):c.958G>A (p.Asp320Asn)
|
rs201342585
|
0.00004
|
NM_080680.3(COL11A2):c.3974C>T (p.Ser1325Leu)
|
rs543145528
|
0.00004
|
NM_080680.3(COL11A2):c.544G>A (p.Val182Ile)
|
rs375937729
|
0.00004
|
NM_144687.4(NLRP12):c.1230G>A (p.Val410=)
|
rs200420112
|
0.00004
|
NM_144687.4(NLRP12):c.14C>A (p.Ala5Glu)
|
rs761545315
|
0.00004
|
NM_144687.4(NLRP12):c.153C>T (p.Ala51=)
|
rs757210851
|
0.00004
|
NM_144687.4(NLRP12):c.192C>T (p.Phe64=)
|
rs145729590
|
0.00004
|
NM_144687.4(NLRP12):c.2622C>T (p.Asp874=)
|
rs368897676
|
0.00004
|
NM_144687.4(NLRP12):c.2756+10G>A
|
rs181364065
|
0.00004
|
NM_144687.4(NLRP12):c.289+13C>T
|
rs776591533
|
0.00004
|
NM_144687.4(NLRP12):c.2927+20G>A
|
rs541649122
|
0.00004
|
NM_144687.4(NLRP12):c.371-9C>T
|
rs202024606
|
0.00004
|
NM_144687.4(NLRP12):c.375C>T (p.Pro125=)
|
rs777145988
|
0.00004
|
NM_144687.4(NLRP12):c.660G>A (p.Gly220=)
|
rs751381187
|
0.00004
|
NM_148919.4(PSMB8):c.384G>A (p.Glu128=)
|
rs547664445
|
0.00004
|
NM_173842.3(IL1RN):c.*1039C>T
|
rs559281814
|
0.00004
|
NM_173842.3(IL1RN):c.206-11T>C
|
rs372847811
|
0.00004
|
NM_173842.3(IL1RN):c.318+17G>A
|
rs373621697
|
0.00004
|
NM_173842.3(IL1RN):c.495C>T (p.Gly165=)
|
rs368843442
|
0.00004
|
NM_198282.4(STING1):c.1128G>A (p.Thr376=)
|
rs778204471
|
0.00004
|
NM_198282.4(STING1):c.600T>C (p.Ile200=)
|
rs916516910
|
0.00004
|
NM_198282.4(STING1):c.750C>T (p.Asn250=)
|
rs772357103
|
0.00004
|
NM_198282.4(STING1):c.783C>T (p.Tyr261=)
|
rs537146631
|
0.00004
|
NM_207122.2(EXT2):c.1495+9C>G
|
rs768311130
|
0.00004
|
NM_207122.2(EXT2):c.1704T>A (p.Gly568=)
|
rs145878394
|
0.00004
|
NM_207122.2(EXT2):c.382C>T (p.Arg128Trp)
|
rs200613371
|
0.00004
|
NM_207122.2(EXT2):c.849C>T (p.Leu283=)
|
rs749093709
|
0.00004
|
NM_212482.4(FN1):c.247C>A (p.Arg83=)
|
rs780120577
|
0.00004
|
NM_212482.4(FN1):c.4559T>G (p.Val1520Gly)
|
rs370343584
|
0.00004
|
NM_212482.4(FN1):c.6066C>T (p.Thr2022=)
|
rs144324514
|
0.00004
|
NM_000088.4(COL1A1):c.3237C>A (p.Gly1079=)
|
rs374853330
|
0.00003
|
NM_000090.4(COL3A1):c.3132C>T (p.Gly1044=)
|
rs369992399
|
0.00003
|
NM_000127.3(EXT1):c.1285-9A>G
|
rs761040629
|
0.00003
|
NM_000127.3(EXT1):c.1293G>A (p.Gln431=)
|
rs773449892
|
0.00003
|
NM_000127.3(EXT1):c.1781C>G (p.Ala594Gly)
|
rs374887549
|
0.00003
|
NM_000127.3(EXT1):c.1899A>G (p.Leu633=)
|
rs368191286
|
0.00003
|
NM_000138.5(FBN1):c.1158C>T (p.Asn386=)
|
rs368737502
|
0.00003
|
NM_000138.5(FBN1):c.1277C>T (p.Pro426Leu)
|
rs146044644
|
0.00003
|
NM_000138.5(FBN1):c.139G>A (p.Gly47Ser)
|
rs762400500
|
0.00003
|
NM_000138.5(FBN1):c.1668G>A (p.Val556=)
|
rs761662654
|
0.00003
|
NM_000138.5(FBN1):c.1747C>T (p.Leu583Phe)
|
rs767293952
|
0.00003
|
NM_000138.5(FBN1):c.1992A>T (p.Gly664=)
|
rs183929553
|
0.00003
|
NM_000138.5(FBN1):c.2056G>A (p.Ala686Thr)
|
rs377621293
|
0.00003
|
NM_000138.5(FBN1):c.2142G>A (p.Gly714=)
|
rs1423523072
|
0.00003
|
NM_000138.5(FBN1):c.2658G>A (p.Pro886=)
|
rs193922192
|
0.00003
|
NM_000138.5(FBN1):c.2728+20A>C
|
rs765993846
|
0.00003
|
NM_000138.5(FBN1):c.2729-8C>G
|
rs775257418
|
0.00003
|
NM_000138.5(FBN1):c.2735A>G (p.Asp912Gly)
|
rs754919275
|
0.00003
|
NM_000138.5(FBN1):c.3216C>T (p.Asp1072=)
|
rs757177349
|
0.00003
|
NM_000138.5(FBN1):c.3480G>A (p.Glu1160=)
|
rs149625173
|
0.00003
|
NM_000138.5(FBN1):c.3523A>G (p.Ile1175Val)
|
rs756754760
|
0.00003
|
NM_000138.5(FBN1):c.378A>G (p.Gly126=)
|
rs149611106
|
0.00003
|
NM_000138.5(FBN1):c.3906A>G (p.Ser1302=)
|
rs756186103
|
0.00003
|
NM_000138.5(FBN1):c.4337-5C>G
|
rs370959127
|
0.00003
|
NM_000138.5(FBN1):c.4413G>A (p.Glu1471=)
|
rs756143911
|
0.00003
|
NM_000138.5(FBN1):c.442+15G>T
|
rs369470506
|
0.00003
|
NM_000138.5(FBN1):c.442+19T>C
|
rs757466131
|
0.00003
|
NM_000138.5(FBN1):c.4460-9C>T
|
rs372753740
|
0.00003
|
NM_000138.5(FBN1):c.4583-11A>G
|
rs780024463
|
0.00003
|
NM_000138.5(FBN1):c.4650C>T (p.Ser1550=)
|
rs933962712
|
0.00003
|
NM_000138.5(FBN1):c.4719T>C (p.Pro1573=)
|
rs761947423
|
0.00003
|
NM_000138.5(FBN1):c.4803C>T (p.Thr1601=)
|
rs747757998
|
0.00003
|
NM_000138.5(FBN1):c.5066-7C>G
|
rs377369765
|
0.00003
|
NM_000138.5(FBN1):c.5466C>T (p.Ala1822=)
|
rs947248042
|
0.00003
|
NM_000138.5(FBN1):c.5671+7A>G
|
rs751170564
|
0.00003
|
NM_000138.5(FBN1):c.5841C>T (p.Cys1947=)
|
rs151181806
|
0.00003
|
NM_000138.5(FBN1):c.6189G>A (p.Ala2063=)
|
rs375624881
|
0.00003
|
NM_000138.5(FBN1):c.6314-16A>G
|
rs759468929
|
0.00003
|
NM_000138.5(FBN1):c.6314-17G>A
|
rs370991477
|
0.00003
|
NM_000138.5(FBN1):c.6338A>T (p.Tyr2113Phe)
|
rs363816
|
0.00003
|
NM_000138.5(FBN1):c.7241G>A (p.Arg2414Gln)
|
rs143863014
|
0.00003
|
NM_000138.5(FBN1):c.7395T>C (p.Ser2465=)
|
rs774341590
|
0.00003
|
NM_000138.5(FBN1):c.7677T>C (p.Asp2559=)
|
rs182358927
|
0.00003
|
NM_000138.5(FBN1):c.7842T>G (p.Ala2614=)
|
rs764496589
|
0.00003
|
NM_000138.5(FBN1):c.7872C>T (p.Asn2624=)
|
rs539185798
|
0.00003
|
NM_000138.5(FBN1):c.8069T>G (p.Met2690Arg)
|
rs747476726
|
0.00003
|
NM_000138.5(FBN1):c.8202C>T (p.Asn2734=)
|
rs113904256
|
0.00003
|
NM_000138.5(FBN1):c.8433G>A (p.Gly2811=)
|
rs771873118
|
0.00003
|
NM_000138.5(FBN1):c.8616A>G (p.Ter2872=)
|
rs374499193
|
0.00003
|
NM_000138.5(FBN1):c.885T>G (p.Ile295Met)
|
rs151056963
|
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.1938G>A (p.Pro646=)
|
rs104895160
|
0.00003
|
NM_000243.3(MEFV):c.1944C>T (p.Phe648=)
|
rs781411214
|
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.2229C>T (p.Phe743=)
|
rs104895152
|
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.513G>T (p.Ala171=)
|
rs745622682
|
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.99G>A (p.Val33=)
|
rs767848974
|
0.00003
|
NM_000302.4(PLOD1):c.1110G>A (p.Arg370=)
|
rs148644646
|
0.00003
|
NM_000302.4(PLOD1):c.1152C>T (p.Asp384=)
|
rs771685198
|
0.00003
|
NM_000302.4(PLOD1):c.1194A>G (p.Gln398=)
|
rs755978483
|
0.00003
|
NM_000302.4(PLOD1):c.1197G>A (p.Gln399=)
|
rs753853335
|
0.00003
|
NM_000302.4(PLOD1):c.1293C>T (p.Ser431=)
|
rs776976856
|
0.00003
|
NM_000302.4(PLOD1):c.1818C>A (p.Ile606=)
|
rs372579008
|
0.00003
|
NM_000302.4(PLOD1):c.2075C>T (p.Pro692Leu)
|
rs557317492
|
0.00003
|
NM_000302.4(PLOD1):c.303-10C>T
|
rs750987724
|
0.00003
|
NM_000302.4(PLOD1):c.336G>A (p.Glu112=)
|
rs746999816
|
0.00003
|
NM_000302.4(PLOD1):c.684G>A (p.Ala228=)
|
rs183225496
|
0.00003
|
NM_000302.4(PLOD1):c.774G>A (p.Pro258=)
|
rs753994916
|
0.00003
|
NM_000302.4(PLOD1):c.813C>T (p.Asp271=)
|
rs373471550
|
0.00003
|
NM_000393.5(COL5A2):c.1923+11A>G
|
rs368776400
|
0.00003
|
NM_000431.4(MVK):c.372-9G>A
|
rs1325994522
|
0.00003
|
NM_000431.4(MVK):c.60T>C (p.His20=)
|
rs104895335
|
0.00003
|
NM_000431.4(MVK):c.700C>T (p.Leu234=)
|
rs199909816
|
0.00003
|
NM_000431.4(MVK):c.78+11G>A
|
rs754766145
|
0.00003
|
NM_000431.4(MVK):c.999C>T (p.Gly333=)
|
rs147904100
|
0.00003
|
NM_000435.3(NOTCH3):c.4782G>C (p.Ser1594=)
|
rs748774860
|
0.00003
|
NM_000516.7(GNAS):c.1131C>T (p.Asn377=)
|
rs140075370
|
0.00003
|
NM_000516.7(GNAS):c.660-19C>T
|
rs370723643
|
0.00003
|
NM_000628.5(IL10RB):c.717C>T (p.Leu239=)
|
rs755556416
|
0.00003
|
NM_001032283.3(TMPO):c.213C>G (p.Arg71=)
|
rs910746839
|
0.00003
|
NM_001032283.3(TMPO):c.330A>G (p.Leu110=)
|
rs776054749
|
0.00003
|
NM_001032283.3(TMPO):c.565+1287A>G
|
rs534940271
|
0.00003
|
NM_001032283.3(TMPO):c.565+1301A>G
|
rs375249647
|
0.00003
|
NM_001032283.3(TMPO):c.565+1616T>C
|
rs147635314
|
0.00003
|
NM_001032283.3(TMPO):c.565+1982A>C
|
rs766190912
|
0.00003
|
NM_001032283.3(TMPO):c.565+2504G>A
|
rs145677259
|
0.00003
|
NM_001042492.3(NF1):c.1182T>C (p.Phe394=)
|
rs786202581
|
0.00003
|
NM_001042492.3(NF1):c.2916A>C (p.Leu972=)
|
rs1210119104
|
0.00003
|
NM_001042492.3(NF1):c.5269-18G>A
|
rs371616556
|
0.00003
|
NM_001042492.3(NF1):c.7189+7A>G
|
rs767151173
|
0.00003
|
NM_001042492.3(NF1):c.8484C>T (p.Gly2828=)
|
rs143289497
|
0.00003
|
NM_001065.4(TNFRSF1A):c.-74G>A
|
rs200084924
|
0.00003
|
NM_001065.4(TNFRSF1A):c.194-15C>T
|
rs104895259
|
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_001110556.2(FLNA):c.4594C>T (p.Arg1532Trp)
|
rs782563345
|
0.00003
|
NM_001110556.2(FLNA):c.6380-17G>A
|
rs200764111
|
0.00003
|
NM_001110556.2(FLNA):c.6466G>A (p.Val2156Ile)
|
rs367655833
|
0.00003
|
NM_001111.5(ADAR):c.192G>A (p.Leu64=)
|
rs61735072
|
0.00003
|
NM_001111.5(ADAR):c.2001G>T (p.Val667=)
|
rs752465315
|
0.00003
|
NM_001111.5(ADAR):c.2270+18G>A
|
rs991076316
|
0.00003
|
NM_001111.5(ADAR):c.2763-10C>G
|
rs750394212
|
0.00003
|
NM_001111.5(ADAR):c.3289C>A (p.His1097Asn)
|
rs200537032
|
0.00003
|
NM_001111.5(ADAR):c.642C>T (p.Asp214=)
|
rs781005907
|
0.00003
|
NM_001122681.2(SH3BP2):c.1140C>T (p.Pro380=)
|
rs771636100
|
0.00003
|
NM_001122681.2(SH3BP2):c.1198G>A (p.Ala400Thr)
|
rs768146888
|
0.00003
|
NM_001122681.2(SH3BP2):c.1233G>A (p.Pro411=)
|
rs752967350
|
0.00003
|
NM_001122681.2(SH3BP2):c.1281C>T (p.Ser427=)
|
rs369710768
|
0.00003
|
NM_001122681.2(SH3BP2):c.1335C>T (p.Asp445=)
|
rs762896248
|
0.00003
|
NM_001122681.2(SH3BP2):c.252G>A (p.Ala84=)
|
rs149515000
|
0.00003
|
NM_001122681.2(SH3BP2):c.321G>A (p.Thr107=)
|
rs140178337
|
0.00003
|
NM_001122681.2(SH3BP2):c.429-16G>A
|
rs528073383
|
0.00003
|
NM_001122681.2(SH3BP2):c.429-17C>T
|
rs768724083
|
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.518-6A>G
|
rs757391759
|
0.00003
|
NM_001122681.2(SH3BP2):c.861C>T (p.Thr287=)
|
rs376641544
|
0.00003
|
NM_001122681.2(SH3BP2):c.990C>T (p.Asn330=)
|
rs769722266
|
0.00003
|
NM_001171.6(ABCC6):c.1908C>T (p.Phe636=)
|
rs767365625
|
0.00003
|
NM_001171.6(ABCC6):c.2820T>G (p.Arg940=)
|
rs72664286
|
0.00003
|
NM_001171.6(ABCC6):c.3891C>T (p.Ile1297=)
|
rs375741855
|
0.00003
|
NM_001171.6(ABCC6):c.4042-15G>A
|
rs371489110
|
0.00003
|
NM_001199138.2(NLRC4):c.1323C>T (p.Phe441=)
|
rs780456558
|
0.00003
|
NM_001199138.2(NLRC4):c.1651A>T (p.Ile551Phe)
|
rs781002536
|
0.00003
|
NM_001199138.2(NLRC4):c.207T>C (p.Phe69=)
|
rs780364474
|
0.00003
|
NM_001199138.2(NLRC4):c.2258-6T>C
|
rs775493450
|
0.00003
|
NM_001199138.2(NLRC4):c.2646C>T (p.Thr882=)
|
rs147513575
|
0.00003
|
NM_001199138.2(NLRC4):c.918G>A (p.Gln306=)
|
rs998499450
|
0.00003
|
NM_001243133.2(NLRP3):c.147T>C (p.His49=)
|
rs199687987
|
0.00003
|
NM_001243133.2(NLRP3):c.1584C>T (p.Ala528=)
|
rs201644343
|
0.00003
|
NM_001243133.2(NLRP3):c.1617A>G (p.Glu539=)
|
rs774490246
|
0.00003
|
NM_001243133.2(NLRP3):c.171C>T (p.Ile57=)
|
rs773673175
|
0.00003
|
NM_001243133.2(NLRP3):c.18C>T (p.Cys6=)
|
rs1304980958
|
0.00003
|
NM_001243133.2(NLRP3):c.2150+12C>T
|
rs201291967
|
0.00003
|
NM_001243133.2(NLRP3):c.2150+13G>A
|
rs199633057
|
0.00003
|
NM_001243133.2(NLRP3):c.2321+11G>A
|
rs371752834
|
0.00003
|
NM_001243133.2(NLRP3):c.2418C>T (p.Asn806=)
|
rs575309255
|
0.00003
|
NM_001243133.2(NLRP3):c.2584G>C (p.Glu862Gln)
|
rs202149902
|
0.00003
|
NM_001243133.2(NLRP3):c.269C>T (p.Pro90Leu)
|
rs145774400
|
0.00003
|
NM_001243133.2(NLRP3):c.278-6T>C
|
rs756926136
|
0.00003
|
NM_001243133.2(NLRP3):c.587G>A (p.Ser196Asn)
|
rs180177459
|
0.00003
|
NM_001282225.2(ADA2):c.1278A>G (p.Val426=)
|
rs756045321
|
0.00003
|
NM_001282225.2(ADA2):c.555T>C (p.Asn185=)
|
rs758525993
|
0.00003
|
NM_001366385.1(CARD14):c.1188C>G (p.Val396=)
|
rs147432650
|
0.00003
|
NM_001366385.1(CARD14):c.1428C>T (p.Pro476=)
|
rs368432283
|
0.00003
|
NM_001366385.1(CARD14):c.2159G>A (p.Arg720His)
|
rs202094920
|
0.00003
|
NM_001366385.1(CARD14):c.2775C>T (p.Val925=)
|
rs372790630
|
0.00003
|
NM_001370466.1(NOD2):c.1027C>T (p.His343Tyr)
|
rs199858111
|
0.00003
|
NM_001370466.1(NOD2):c.1110G>A (p.Pro370=)
|
rs766883774
|
0.00003
|
NM_001370466.1(NOD2):c.1215G>A (p.Ala405=)
|
rs779751017
|
0.00003
|
NM_001370466.1(NOD2):c.1239C>T (p.Thr413=)
|
rs143395754
|
0.00003
|
NM_001370466.1(NOD2):c.1520G>T (p.Gly507Val)
|
rs139663808
|
0.00003
|
NM_001370466.1(NOD2):c.1956A>G (p.Ala652=)
|
rs756746121
|
0.00003
|
NM_001370466.1(NOD2):c.2073C>T (p.His691=)
|
rs368952727
|
0.00003
|
NM_001370466.1(NOD2):c.2186G>A (p.Arg729Gln)
|
rs375713299
|
0.00003
|
NM_001370466.1(NOD2):c.2381+15G>A
|
rs931489429
|
0.00003
|
NM_001370466.1(NOD2):c.2388C>T (p.Arg796=)
|
rs757770726
|
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.2572G>C (p.Ala858Pro)
|
rs759456303
|
0.00003
|
NM_001370466.1(NOD2):c.2658C>T (p.Asp886=)
|
rs104895451
|
0.00003
|
NM_001370466.1(NOD2):c.300G>A (p.Ser100=)
|
rs535978538
|
0.00003
|
NM_001370466.1(NOD2):c.726G>A (p.Pro242=)
|
rs369766454
|
0.00003
|
NM_001370466.1(NOD2):c.840G>A (p.Thr280=)
|
rs376601025
|
0.00003
|
NM_001375808.2(LPIN2):c.1134G>A (p.Pro378=)
|
rs543890845
|
0.00003
|
NM_001375808.2(LPIN2):c.1329C>A (p.Ser443=)
|
rs759651506
|
0.00003
|
NM_001375808.2(LPIN2):c.1800C>T (p.Ala600=)
|
rs369572309
|
0.00003
|
NM_001375808.2(LPIN2):c.2316C>T (p.Ser772=)
|
rs145270447
|
0.00003
|
NM_001375808.2(LPIN2):c.2328-20T>C
|
rs763961605
|
0.00003
|
NM_001375808.2(LPIN2):c.2547-11C>T
|
rs776045621
|
0.00003
|
NM_001375808.2(LPIN2):c.540A>C (p.Thr180=)
|
rs151135579
|
0.00003
|
NM_001375808.2(LPIN2):c.838C>A (p.Arg280=)
|
rs759667494
|
0.00003
|
NM_001457.4(FLNB):c.1278C>T (p.His426=)
|
rs572259451
|
0.00003
|
NM_001558.4(IL10RA):c.282T>C (p.Asn94=)
|
rs202172266
|
0.00003
|
NM_001611.5(ACP5):c.495T>C (p.Asp165=)
|
rs757465602
|
0.00003
|
NM_001611.5(ACP5):c.621C>T (p.Pro207=)
|
rs372107388
|
0.00003
|
NM_001611.5(ACP5):c.637G>C (p.Glu213Gln)
|
rs142179752
|
0.00003
|
NM_001611.5(ACP5):c.642C>T (p.His214=)
|
rs748235353
|
0.00003
|
NM_001611.5(ACP5):c.714C>T (p.Cys238=)
|
rs199512530
|
0.00003
|
NM_001611.5(ACP5):c.828C>T (p.Asn276=)
|
rs371003771
|
0.00003
|
NM_001613.4(ACTA2):c.390T>C (p.Asn130=)
|
rs141933412
|
0.00003
|
NM_001844.5(COL2A1):c.2194-10C>T
|
rs779541449
|
0.00003
|
NM_001851.6(COL9A1):c.1816C>T (p.Pro606Ser)
|
rs773380068
|
0.00003
|
NM_001852.4(COL9A2):c.905C>T (p.Pro302Leu)
|
rs369110014
|
0.00003
|
NM_001972.4(ELANE):c.773G>A (p.Arg258Gln)
|
rs202234596
|
0.00003
|
NM_001999.4(FBN2):c.-448C>T
|
rs529025715
|
0.00003
|
NM_001999.4(FBN2):c.1091G>A (p.Gly364Asp)
|
rs762615993
|
0.00003
|
NM_001999.4(FBN2):c.1410C>A (p.Gly470=)
|
rs750103822
|
0.00003
|
NM_001999.4(FBN2):c.1526G>T (p.Arg509Leu)
|
rs199587570
|
0.00003
|
NM_001999.4(FBN2):c.186G>A (p.Glu62=)
|
rs759839753
|
0.00003
|
NM_001999.4(FBN2):c.195G>A (p.Glu65=)
|
rs750055830
|
0.00003
|
NM_001999.4(FBN2):c.2214A>T (p.Gly738=)
|
rs201548788
|
0.00003
|
NM_001999.4(FBN2):c.2249-12T>C
|
rs776314725
|
0.00003
|
NM_001999.4(FBN2):c.2634G>A (p.Ser878=)
|
rs143905167
|
0.00003
|
NM_001999.4(FBN2):c.2674+10A>G
|
rs371734006
|
0.00003
|
NM_001999.4(FBN2):c.3093G>A (p.Ala1031=)
|
rs528529593
|
0.00003
|
NM_001999.4(FBN2):c.3279C>T (p.Ile1093=)
|
rs142809999
|
0.00003
|
NM_001999.4(FBN2):c.3702G>A (p.Thr1234=)
|
rs374833053
|
0.00003
|
NM_001999.4(FBN2):c.3709C>T (p.Arg1237Cys)
|
rs746570981
|
0.00003
|
NM_001999.4(FBN2):c.3710G>T (p.Arg1237Leu)
|
rs142185964
|
0.00003
|
NM_001999.4(FBN2):c.3840G>A (p.Ser1280=)
|
rs372613935
|
0.00003
|
NM_001999.4(FBN2):c.3980A>G (p.Asn1327Ser)
|
rs762567430
|
0.00003
|
NM_001999.4(FBN2):c.4103T>C (p.Val1368Ala)
|
rs28763942
|
0.00003
|
NM_001999.4(FBN2):c.4290C>T (p.Gly1430=)
|
rs773650336
|
0.00003
|
NM_001999.4(FBN2):c.4551C>T (p.Cys1517=)
|
rs144018137
|
0.00003
|
NM_001999.4(FBN2):c.4785C>T (p.Thr1595=)
|
rs756084999
|
0.00003
|
NM_001999.4(FBN2):c.4914C>T (p.Gly1638=)
|
rs1482008222
|
0.00003
|
NM_001999.4(FBN2):c.49G>A (p.Gly17Ser)
|
rs1085307788
|
0.00003
|
NM_001999.4(FBN2):c.532C>T (p.Pro178Ser)
|
rs765177174
|
0.00003
|
NM_001999.4(FBN2):c.5353+11G>A
|
rs572393472
|
0.00003
|
NM_001999.4(FBN2):c.5548+20T>C
|
rs372334617
|
0.00003
|
NM_001999.4(FBN2):c.5567A>G (p.Asn1856Ser)
|
rs780989245
|
0.00003
|
NM_001999.4(FBN2):c.5638G>A (p.Ala1880Thr)
|
rs546148828
|
0.00003
|
NM_001999.4(FBN2):c.6057G>A (p.Glu2019=)
|
rs752114619
|
0.00003
|
NM_001999.4(FBN2):c.629-19T>C
|
rs374428361
|
0.00003
|
NM_001999.4(FBN2):c.6411G>A (p.Gly2137=)
|
rs552637321
|
0.00003
|
NM_001999.4(FBN2):c.6439G>A (p.Asp2147Asn)
|
rs370650204
|
0.00003
|
NM_001999.4(FBN2):c.6909C>T (p.His2303=)
|
rs762440824
|
0.00003
|
NM_001999.4(FBN2):c.6986G>A (p.Arg2329Gln)
|
rs370804151
|
0.00003
|
NM_001999.4(FBN2):c.7338T>C (p.Asp2446=)
|
rs751824761
|
0.00003
|
NM_001999.4(FBN2):c.7477G>A (p.Asp2493Asn)
|
rs779483120
|
0.00003
|
NM_001999.4(FBN2):c.7587A>G (p.Thr2529=)
|
rs145809024
|
0.00003
|
NM_001999.4(FBN2):c.7756G>A (p.Gly2586Arg)
|
rs747305733
|
0.00003
|
NM_001999.4(FBN2):c.8046G>T (p.Ser2682=)
|
rs771507975
|
0.00003
|
NM_001999.4(FBN2):c.8112C>T (p.Asn2704=)
|
rs370851605
|
0.00003
|
NM_001999.4(FBN2):c.8192+7C>T
|
rs376135657
|
0.00003
|
NM_001999.4(FBN2):c.81C>T (p.Ala27=)
|
rs746484599
|
0.00003
|
NM_001999.4(FBN2):c.8253C>T (p.Val2751=)
|
rs140631421
|
0.00003
|
NM_001999.4(FBN2):c.8305G>A (p.Gly2769Ser)
|
rs372206279
|
0.00003
|
NM_001999.4(FBN2):c.8332A>C (p.Lys2778Gln)
|
rs371715068
|
0.00003
|
NM_001999.4(FBN2):c.8469C>T (p.Pro2823=)
|
rs371397121
|
0.00003
|
NM_001999.4(FBN2):c.8596G>A (p.Gly2866Ser)
|
rs752201545
|
0.00003
|
NM_001999.4(FBN2):c.8701G>A (p.Glu2901Lys)
|
rs781069799
|
0.00003
|
NM_001999.4(FBN2):c.93G>T (p.Gln31His)
|
rs371491169
|
0.00003
|
NM_002609.4(PDGFRB):c.1217A>G (p.Gln406Arg)
|
rs374802057
|
0.00003
|
NM_002609.4(PDGFRB):c.164C>T (p.Ser55Leu)
|
rs147952898
|
0.00003
|
NM_002609.4(PDGFRB):c.1971C>T (p.His657=)
|
rs138486655
|
0.00003
|
NM_002609.4(PDGFRB):c.2997A>T (p.Arg999=)
|
rs776113877
|
0.00003
|
NM_002609.4(PDGFRB):c.729C>T (p.Val243=)
|
rs758566697
|
0.00003
|
NM_002661.5(PLCG2):c.1047G>C (p.Leu349=)
|
rs1212583526
|
0.00003
|
NM_002661.5(PLCG2):c.1194-16C>A
|
rs778184999
|
0.00003
|
NM_002661.5(PLCG2):c.147G>A (p.Thr49=)
|
rs969768555
|
0.00003
|
NM_002661.5(PLCG2):c.1916A>G (p.Asn639Ser)
|
rs377753289
|
0.00003
|
NM_002661.5(PLCG2):c.2121C>T (p.Ser707=)
|
rs527809751
|
0.00003
|
NM_002661.5(PLCG2):c.2160C>T (p.Tyr720=)
|
rs554237118
|
0.00003
|
NM_002661.5(PLCG2):c.2308-14G>A
|
rs571132843
|
0.00003
|
NM_002661.5(PLCG2):c.2514+17G>A
|
rs749786383
|
0.00003
|
NM_002661.5(PLCG2):c.2712A>G (p.Arg904=)
|
rs756154836
|
0.00003
|
NM_002661.5(PLCG2):c.3186G>A (p.Thr1062=)
|
rs750433397
|
0.00003
|
NM_002661.5(PLCG2):c.3429C>T (p.Ser1143=)
|
rs373377275
|
0.00003
|
NM_002661.5(PLCG2):c.438G>A (p.Leu146=)
|
rs976068042
|
0.00003
|
NM_002661.5(PLCG2):c.693-6G>C
|
rs755176167
|
0.00003
|
NM_002661.5(PLCG2):c.766-7T>C
|
rs1055824436
|
0.00003
|
NM_002661.5(PLCG2):c.876G>A (p.Thr292=)
|
rs375222873
|
0.00003
|
NM_003036.4(SKI):c.1187A>G (p.His396Arg)
|
rs987527805
|
0.00003
|
NM_003036.4(SKI):c.1272G>A (p.Pro424=)
|
rs552946737
|
0.00003
|
NM_003036.4(SKI):c.1556G>A (p.Arg519His)
|
rs376322470
|
0.00003
|
NM_003036.4(SKI):c.1866G>A (p.Glu622=)
|
rs748886393
|
0.00003
|
NM_003036.4(SKI):c.1877A>T (p.Lys626Met)
|
rs774106502
|
0.00003
|
NM_003036.4(SKI):c.1935G>T (p.Arg645=)
|
rs751933078
|
0.00003
|
NM_003036.4(SKI):c.1999-19C>T
|
rs1367620764
|
0.00003
|
NM_003036.4(SKI):c.2112G>A (p.Glu704=)
|
rs1034542455
|
0.00003
|
NM_003036.4(SKI):c.2154G>T (p.Ala718=)
|
rs778456446
|
0.00003
|
NM_003036.4(SKI):c.336C>T (p.Cys112=)
|
rs752031916
|
0.00003
|
NM_003036.4(SKI):c.393G>A (p.Leu131=)
|
rs748004059
|
0.00003
|
NM_003036.4(SKI):c.844C>A (p.Arg282=)
|
rs753783431
|
0.00003
|
NM_003036.4(SKI):c.970-7A>G
|
rs199634070
|
0.00003
|
NM_003183.6(ADAM17):c.1332C>T (p.His444=)
|
rs756357298
|
0.00003
|
NM_003183.6(ADAM17):c.1632C>T (p.Gly544=)
|
rs754676488
|
0.00003
|
NM_003183.6(ADAM17):c.2196G>A (p.Ala732=)
|
rs746436310
|
0.00003
|
NM_003183.6(ADAM17):c.2244G>A (p.Ala748=)
|
rs945619889
|
0.00003
|
NM_003238.6(TGFB2):c.330C>T (p.Pro110=)
|
rs150348450
|
0.00003
|
NM_003238.6(TGFB2):c.745A>C (p.Arg249=)
|
rs201845761
|
0.00003
|
NM_003239.5(TGFB3):c.1185C>T (p.Thr395=)
|
rs753453972
|
0.00003
|
NM_003239.5(TGFB3):c.591C>T (p.Ala197=)
|
rs375090568
|
0.00003
|
NM_003239.5(TGFB3):c.948T>C (p.Cys316=)
|
rs1364994786
|
0.00003
|
NM_003242.6(TGFBR2):c.*1075C>T
|
rs544093849
|
0.00003
|
NM_003977.4(AIP):c.573C>T (p.Arg191=)
|
rs781545373
|
0.00003
|
NM_003977.4(AIP):c.591G>A (p.Glu197=)
|
rs202006716
|
0.00003
|
NM_003978.5(PSTPIP1):c.1158G>A (p.Leu386=)
|
rs752462668
|
0.00003
|
NM_003978.5(PSTPIP1):c.355-17C>T
|
rs886038536
|
0.00003
|
NM_003978.5(PSTPIP1):c.418-9C>A
|
rs763395091
|
0.00003
|
NM_003978.5(PSTPIP1):c.537G>A (p.Gln179=)
|
rs927470089
|
0.00003
|
NM_003978.5(PSTPIP1):c.747C>T (p.Tyr249=)
|
rs557759616
|
0.00003
|
NM_003978.5(PSTPIP1):c.789C>T (p.Ala263=)
|
rs201770311
|
0.00003
|
NM_003978.5(PSTPIP1):c.864C>T (p.Tyr288=)
|
rs763986763
|
0.00003
|
NM_004364.5(CEBPA):c.816C>G (p.Gly272=)
|
rs750852645
|
0.00003
|
NM_004371.4(COPA):c.1407G>A (p.Ala469=)
|
rs776931982
|
0.00003
|
NM_004371.4(COPA):c.1491A>G (p.Ser497=)
|
rs1047288998
|
0.00003
|
NM_004371.4(COPA):c.1944C>G (p.Arg648=)
|
rs370936027
|
0.00003
|
NM_004371.4(COPA):c.2240G>A (p.Arg747Gln)
|
rs759567454
|
0.00003
|
NM_004371.4(COPA):c.2316G>A (p.Glu772=)
|
rs1302833444
|
0.00003
|
NM_004371.4(COPA):c.2567-13A>G
|
rs770890116
|
0.00003
|
NM_004371.4(COPA):c.2712T>C (p.Asp904=)
|
rs375099053
|
0.00003
|
NM_004371.4(COPA):c.2823+15C>T
|
rs748443010
|
0.00003
|
NM_004371.4(COPA):c.3147+17G>A
|
rs764093655
|
0.00003
|
NM_004371.4(COPA):c.3281C>T (p.Ser1094Leu)
|
rs763192047
|
0.00003
|
NM_004371.4(COPA):c.3533G>A (p.Arg1178His)
|
rs373521245
|
0.00003
|
NM_004371.4(COPA):c.396A>G (p.Thr132=)
|
rs994912702
|
0.00003
|
NM_004371.4(COPA):c.820C>A (p.Arg274=)
|
rs764849788
|
0.00003
|
NM_004371.4(COPA):c.971C>T (p.Pro324Leu)
|
rs569042047
|
0.00003
|
NM_004944.4(DNASE1L3):c.211C>T (p.Leu71=)
|
rs201845352
|
0.00003
|
NM_005188.4(CBL):c.1353C>T (p.Pro451=)
|
rs201616881
|
0.00003
|
NM_005373.3(MPL):c.1665A>G (p.Thr555=)
|
rs981464721
|
0.00003
|
NM_005373.3(MPL):c.978C>T (p.Asp326=)
|
rs202119310
|
0.00003
|
NM_005902.4(SMAD3):c.1102C>A (p.Arg368=)
|
rs757106110
|
0.00003
|
NM_006258.4(PRKG1):c.951A>T (p.Thr317=)
|
rs770604607
|
0.00003
|
NM_006397.3(RNASEH2A):c.323+14G>A
|
rs375035268
|
0.00003
|
NM_006397.3(RNASEH2A):c.873C>T (p.Arg291=)
|
rs746693346
|
0.00003
|
NM_006949.4(STXBP2):c.1453-10C>T
|
rs368488488
|
0.00003
|
NM_012275.3(IL36RN):c.115+7G>A
|
rs760803052
|
0.00003
|
NM_012275.3(IL36RN):c.168C>T (p.Pro56=)
|
rs549588385
|
0.00003
|
NM_012275.3(IL36RN):c.244-15C>T
|
rs749973247
|
0.00003
|
NM_015474.4(SAMHD1):c.534A>C (p.Leu178=)
|
rs771148482
|
0.00003
|
NM_015474.4(SAMHD1):c.795T>C (p.Ile265=)
|
rs770681043
|
0.00003
|
NM_015474.4(SAMHD1):c.90A>C (p.Ala30=)
|
rs780812058
|
0.00003
|
NM_015474.4(SAMHD1):c.990T>C (p.Asp330=)
|
rs756532676
|
0.00003
|
NM_017617.5(NOTCH1):c.2354-14C>A
|
rs376797282
|
0.00003
|
NM_017617.5(NOTCH1):c.3860G>A (p.Arg1287His)
|
rs763679772
|
0.00003
|
NM_017617.5(NOTCH1):c.3901+10G>A
|
rs561404862
|
0.00003
|
NM_021625.5(TRPV4):c.1422C>T (p.Asn474=)
|
rs140533102
|
0.00003
|
NM_022168.4(IFIH1):c.1300T>C (p.Leu434=)
|
rs777314172
|
0.00003
|
NM_022168.4(IFIH1):c.2199G>A (p.Ala733=)
|
rs370474318
|
0.00003
|
NM_022168.4(IFIH1):c.2294C>T (p.Pro765Leu)
|
rs376380607
|
0.00003
|
NM_022168.4(IFIH1):c.2305-10G>A
|
rs970956085
|
0.00003
|
NM_022168.4(IFIH1):c.2305-2A>G
|
rs199696786
|
0.00003
|
NM_022168.4(IFIH1):c.2383G>A (p.Gly795Ser)
|
rs141366758
|
0.00003
|
NM_022168.4(IFIH1):c.2435A>G (p.Asn812Ser)
|
rs199638804
|
0.00003
|
NM_022168.4(IFIH1):c.2523C>T (p.Ile841=)
|
rs764283606
|
0.00003
|
NM_022168.4(IFIH1):c.623-11G>A
|
rs1384873017
|
0.00003
|
NM_022168.4(IFIH1):c.988C>T (p.Pro330Ser)
|
rs141848057
|
0.00003
|
NM_023110.3(FGFR1):c.2106C>T (p.Pro702=)
|
rs777061347
|
0.00003
|
NM_023110.3(FGFR1):c.2186+19C>T
|
rs776791517
|
0.00003
|
NM_023110.3(FGFR1):c.456T>C (p.Ala152=)
|
rs369175953
|
0.00003
|
NM_024408.4(NOTCH2):c.2388T>A (p.Ile796=)
|
rs138943874
|
0.00003
|
NM_024408.4(NOTCH2):c.2982-13G>A
|
rs1056181570
|
0.00003
|
NM_024408.4(NOTCH2):c.3109G>A (p.Glu1037Lys)
|
rs782463588
|
0.00003
|
NM_024408.4(NOTCH2):c.4461C>T (p.Val1487=)
|
rs143995454
|
0.00003
|
NM_024408.4(NOTCH2):c.5214-12T>C
|
rs770224035
|
0.00003
|
NM_024408.4(NOTCH2):c.5684G>A (p.Arg1895His)
|
rs201996575
|
0.00003
|
NM_024408.4(NOTCH2):c.6028-4G>A
|
rs372465730
|
0.00003
|
NM_024408.4(NOTCH2):c.6087G>C (p.Leu2029=)
|
rs141606816
|
0.00003
|
NM_024408.4(NOTCH2):c.6543C>T (p.Asn2181=)
|
rs1457168283
|
0.00003
|
NM_024408.4(NOTCH2):c.6999G>A (p.Ala2333=)
|
rs760004891
|
0.00003
|
NM_024408.4(NOTCH2):c.7146G>A (p.Lys2382=)
|
rs775423271
|
0.00003
|
NM_024408.4(NOTCH2):c.7342G>T (p.Ala2448Ser)
|
rs764210725
|
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_024570.4(RNASEH2B):c.240A>G (p.Gln80=)
|
rs781187392
|
0.00003
|
NM_024570.4(RNASEH2B):c.55C>T (p.Leu19=)
|
rs1181798662
|
0.00003
|
NM_024570.4(RNASEH2B):c.617-7C>G
|
rs367604928
|
0.00003
|
NM_030777.4(SLC2A10):c.1377C>T (p.Asn459=)
|
rs756207829
|
0.00003
|
NM_030777.4(SLC2A10):c.1446C>T (p.Tyr482=)
|
rs150398871
|
0.00003
|
NM_030777.4(SLC2A10):c.1566C>T (p.Gly522=)
|
rs1980421137
|
0.00003
|
NM_030777.4(SLC2A10):c.1596C>T (p.Tyr532=)
|
rs886056727
|
0.00003
|
NM_030777.4(SLC2A10):c.189G>C (p.Leu63=)
|
rs890578209
|
0.00003
|
NM_030777.4(SLC2A10):c.306C>T (p.Val102=)
|
rs530216827
|
0.00003
|
NM_030777.4(SLC2A10):c.948C>T (p.Leu316=)
|
rs755109002
|
0.00003
|
NM_031229.4(RBCK1):c.1380C>T (p.Cys460=)
|
rs377305490
|
0.00003
|
NM_031229.4(RBCK1):c.63C>T (p.Gly21=)
|
rs749576109
|
0.00003
|
NM_031229.4(RBCK1):c.855C>T (p.Cys285=)
|
rs776856644
|
0.00003
|
NM_031229.4(RBCK1):c.861G>A (p.Ser287=)
|
rs1053428615
|
0.00003
|
NM_031229.4(RBCK1):c.917+9C>T
|
rs752577528
|
0.00003
|
NM_032193.4(RNASEH2C):c.459T>C (p.Leu153=)
|
rs771390677
|
0.00003
|
NM_053025.4(MYLK):c.4743C>T (p.Ile1581=)
|
rs371814184
|
0.00003
|
NM_053025.4(MYLK):c.619G>A (p.Val207Met)
|
rs756560698
|
0.00003
|
NM_080680.3(COL11A2):c.1612-16T>A
|
rs530508572
|
0.00003
|
NM_144687.4(NLRP12):c.1284C>T (p.Ser428=)
|
rs367627684
|
0.00003
|
NM_144687.4(NLRP12):c.1305C>T (p.Tyr435=)
|
rs779821645
|
0.00003
|
NM_144687.4(NLRP12):c.204G>A (p.Glu68=)
|
rs140581299
|
0.00003
|
NM_144687.4(NLRP12):c.2052G>A (p.Ala684=)
|
rs755768331
|
0.00003
|
NM_144687.4(NLRP12):c.3003C>T (p.Thr1001=)
|
rs556001110
|
0.00003
|
NM_144687.4(NLRP12):c.309G>A (p.Pro103=)
|
rs200930208
|
0.00003
|
NM_144687.4(NLRP12):c.858C>T (p.Pro286=)
|
rs145171629
|
0.00003
|
NM_148919.4(PSMB8):c.21C>T (p.Cys7=)
|
rs749425717
|
0.00003
|
NM_148919.4(PSMB8):c.537+8C>T
|
rs767292865
|
0.00003
|
NM_173842.3(IL1RN):c.414T>C (p.Ser138=)
|
rs146491054
|
0.00003
|
NM_173842.3(IL1RN):c.489C>T (p.Asp163=)
|
rs371472986
|
0.00003
|
NM_198253.3(TERT):c.2190C>T (p.Ala730=)
|
rs138128892
|
0.00003
|
NM_198253.3(TERT):c.2262C>T (p.His754=)
|
rs778622091
|
0.00003
|
NM_198282.4(STING1):c.339C>T (p.Val113=)
|
rs749076471
|
0.00003
|
NM_198282.4(STING1):c.495C>T (p.Ile165=)
|
rs746690249
|
0.00003
|
NM_199242.3(UNC13D):c.3270G>A (p.Pro1090=)
|
rs545430645
|
0.00003
|
NM_207122.2(EXT2):c.1023G>A (p.Pro341=)
|
rs757323768
|
0.00003
|
NM_207122.2(EXT2):c.1080-6C>T
|
rs752180821
|
0.00003
|
NM_207122.2(EXT2):c.1194G>A (p.Ala398=)
|
rs1011914306
|
0.00003
|
NM_207122.2(EXT2):c.1461C>T (p.Val487=)
|
rs150758739
|
0.00003
|
NM_207122.2(EXT2):c.1935+11C>G
|
rs764143899
|
0.00003
|
NM_207122.2(EXT2):c.2052C>T (p.Phe684=)
|
rs746317053
|
0.00003
|
NM_207122.2(EXT2):c.383G>A (p.Arg128Gln)
|
rs771039412
|
0.00003
|
NM_207122.2(EXT2):c.699T>C (p.Tyr233=)
|
rs1319747883
|
0.00003
|
NM_212482.4(FN1):c.3288C>T (p.Thr1096=)
|
rs754499962
|
0.00003
|
NM_000047.3(ARSL):c.-10G>C
|
rs555426001
|
0.00002
|
NM_000093.5(COL5A1):c.3258+7C>A
|
rs750710374
|
0.00002
|
NM_000127.3(EXT1):c.1338C>T (p.Asn446=)
|
rs745637397
|
0.00002
|
NM_000127.3(EXT1):c.1360G>A (p.Val454Ile)
|
rs201504622
|
0.00002
|
NM_000127.3(EXT1):c.148A>G (p.Ser50Gly)
|
rs772811741
|
0.00002
|
NM_000127.3(EXT1):c.1509T>A (p.Ala503=)
|
rs949806342
|
0.00002
|
NM_000127.3(EXT1):c.1608C>T (p.Val536=)
|
rs761252195
|
0.00002
|
NM_000127.3(EXT1):c.195C>T (p.Phe65=)
|
rs1202105470
|
0.00002
|
NM_000127.3(EXT1):c.2106G>A (p.Gln702=)
|
rs780640885
|
0.00002
|
NM_000127.3(EXT1):c.210A>G (p.Gln70=)
|
rs367543871
|
0.00002
|
NM_000127.3(EXT1):c.2148G>A (p.Pro716=)
|
rs757499157
|
0.00002
|
NM_000127.3(EXT1):c.2172C>T (p.Leu724=)
|
rs570085150
|
0.00002
|
NM_000127.3(EXT1):c.66T>C (p.Tyr22=)
|
rs764093488
|
0.00002
|
NM_000127.3(EXT1):c.699T>C (p.Ser233=)
|
rs370644296
|
0.00002
|
NM_000127.3(EXT1):c.768C>T (p.Ile256=)
|
rs566692634
|
0.00002
|
NM_000127.3(EXT1):c.962+7G>C
|
rs778490814
|
0.00002
|
NM_000138.5(FBN1):c.1147+20T>C
|
rs746088095
|
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.1566A>G (p.Thr522=)
|
rs531264662
|
0.00002
|
NM_000138.5(FBN1):c.164+9A>G
|
rs773997652
|
0.00002
|
NM_000138.5(FBN1):c.1692A>T (p.Thr564=)
|
rs1323581379
|
0.00002
|
NM_000138.5(FBN1):c.1961-7T>C
|
rs878853675
|
0.00002
|
NM_000138.5(FBN1):c.19C>T (p.Leu7=)
|
rs139161583
|
0.00002
|
NM_000138.5(FBN1):c.2093C>T (p.Pro698Leu)
|
rs764827921
|
0.00002
|
NM_000138.5(FBN1):c.2154G>A (p.Thr718=)
|
rs377033515
|
0.00002
|
NM_000138.5(FBN1):c.2419+7C>T
|
rs773155136
|
0.00002
|
NM_000138.5(FBN1):c.2502T>A (p.Ser834=)
|
rs754372754
|
0.00002
|
NM_000138.5(FBN1):c.2547C>G (p.Ile849Met)
|
rs778258207
|
0.00002
|
NM_000138.5(FBN1):c.2678-14G>A
|
rs369475895
|
0.00002
|
NM_000138.5(FBN1):c.2855-10C>T
|
rs1044021136
|
0.00002
|
NM_000138.5(FBN1):c.2878C>T (p.Leu960=)
|
rs1469750878
|
0.00002
|
NM_000138.5(FBN1):c.2883G>T (p.Arg961Ser)
|
rs142964120
|
0.00002
|
NM_000138.5(FBN1):c.2911A>G (p.Ile971Val)
|
rs766660415
|
0.00002
|
NM_000138.5(FBN1):c.2949C>T (p.Ser983=)
|
rs769307676
|
0.00002
|
NM_000138.5(FBN1):c.2950G>A (p.Val984Ile)
|
rs747713929
|
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.3410G>A (p.Arg1137His)
|
rs137854456
|
0.00002
|
NM_000138.5(FBN1):c.3453C>T (p.Ser1151=)
|
rs748759748
|
0.00002
|
NM_000138.5(FBN1):c.3456G>A (p.Ala1152=)
|
rs777442762
|
0.00002
|
NM_000138.5(FBN1):c.347-16C>G
|
rs752093190
|
0.00002
|
NM_000138.5(FBN1):c.3513C>T (p.Cys1171=)
|
rs775417975
|
0.00002
|
NM_000138.5(FBN1):c.3777A>C (p.Gly1259=)
|
rs1404903351
|
0.00002
|
NM_000138.5(FBN1):c.3785G>A (p.Arg1262Lys)
|
rs371103773
|
0.00002
|
NM_000138.5(FBN1):c.4026A>G (p.Thr1342=)
|
rs752154066
|
0.00002
|
NM_000138.5(FBN1):c.4088-5A>G
|
rs534913868
|
0.00002
|
NM_000138.5(FBN1):c.4488G>A (p.Thr1496=)
|
rs370494288
|
0.00002
|
NM_000138.5(FBN1):c.468T>C (p.Asn156=)
|
rs757577615
|
0.00002
|
NM_000138.5(FBN1):c.4748-6C>T
|
rs376611471
|
0.00002
|
NM_000138.5(FBN1):c.4842A>G (p.Pro1614=)
|
rs779362502
|
0.00002
|
NM_000138.5(FBN1):c.4999G>A (p.Val1667Ile)
|
rs140626
|
0.00002
|
NM_000138.5(FBN1):c.5190C>T (p.Asn1730=)
|
rs765997414
|
0.00002
|
NM_000138.5(FBN1):c.5292C>T (p.Pro1764=)
|
rs111756438
|
0.00002
|
NM_000138.5(FBN1):c.5423-5C>T
|
rs368750818
|
0.00002
|
NM_000138.5(FBN1):c.5443G>A (p.Gly1815Ser)
|
rs745680336
|
0.00002
|
NM_000138.5(FBN1):c.5463C>T (p.Asn1821=)
|
rs753966383
|
0.00002
|
NM_000138.5(FBN1):c.5467G>A (p.Glu1823Lys)
|
rs567397762
|
0.00002
|
NM_000138.5(FBN1):c.5788+19G>A
|
rs758996081
|
0.00002
|
NM_000138.5(FBN1):c.5918-12T>G
|
rs751115639
|
0.00002
|
NM_000138.5(FBN1):c.6129G>C (p.Gly2043=)
|
rs766473100
|
0.00002
|
NM_000138.5(FBN1):c.6180C>T (p.Tyr2060=)
|
rs974604498
|
0.00002
|
NM_000138.5(FBN1):c.62C>T (p.Thr21Met)
|
rs1489806847
|
0.00002
|
NM_000138.5(FBN1):c.6379+11T>C
|
rs370322263
|
0.00002
|
NM_000138.5(FBN1):c.6379+4A>G
|
rs780370404
|
0.00002
|
NM_000138.5(FBN1):c.6387C>T (p.Asp2129=)
|
rs147342485
|
0.00002
|
NM_000138.5(FBN1):c.6872-12A>G
|
rs568325297
|
0.00002
|
NM_000138.5(FBN1):c.6998-7C>T
|
rs764823572
|
0.00002
|
NM_000138.5(FBN1):c.7231G>A (p.Asp2411Asn)
|
rs775558051
|
0.00002
|
NM_000138.5(FBN1):c.7283T>C (p.Ile2428Thr)
|
rs565474071
|
0.00002
|
NM_000138.5(FBN1):c.7454-6T>C
|
rs1253572031
|
0.00002
|
NM_000138.5(FBN1):c.7501G>C (p.Val2501Leu)
|
rs371110611
|
0.00002
|
NM_000138.5(FBN1):c.7524A>G (p.Thr2508=)
|
rs201992942
|
0.00002
|
NM_000138.5(FBN1):c.7533T>C (p.Cys2511=)
|
rs750331217
|
0.00002
|
NM_000138.5(FBN1):c.7575C>T (p.Asn2525=)
|
rs759021474
|
0.00002
|
NM_000138.5(FBN1):c.7683C>T (p.Thr2561=)
|
rs758353830
|
0.00002
|
NM_000138.5(FBN1):c.7701C>T (p.Asp2567=)
|
rs368054842
|
0.00002
|
NM_000138.5(FBN1):c.8130C>T (p.Leu2710=)
|
rs372105662
|
0.00002
|
NM_000138.5(FBN1):c.8227-10G>A
|
rs765093559
|
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.8533C>T (p.Leu2845=)
|
rs767060377
|
0.00002
|
NM_000138.5(FBN1):c.8G>C (p.Arg3Pro)
|
rs149929989
|
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.1119A>G (p.Pro373=)
|
rs1256271984
|
0.00002
|
NM_000243.3(MEFV):c.1261-4C>A
|
rs759448762
|
0.00002
|
NM_000243.3(MEFV):c.1407G>A (p.Val469=)
|
rs757268432
|
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.1760-5C>T
|
rs1319612887
|
0.00002
|
NM_000243.3(MEFV):c.1782G>A (p.Gln594=)
|
rs144122901
|
0.00002
|
NM_000243.3(MEFV):c.1898C>T (p.Pro633Leu)
|
rs976279218
|
0.00002
|
NM_000243.3(MEFV):c.1911C>T (p.Asp637=)
|
rs746646325
|
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.2055G>A (p.Glu685=)
|
rs375378545
|
0.00002
|
NM_000243.3(MEFV):c.2103G>A (p.Ala701=)
|
rs104895095
|
0.00002
|
NM_000243.3(MEFV):c.2122C>T (p.Arg708Cys)
|
rs104895202
|
0.00002
|
NM_000243.3(MEFV):c.2146A>G (p.Lys716Glu)
|
rs746092199
|
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.277+20C>T
|
rs974303326
|
0.00002
|
NM_000243.3(MEFV):c.277+7G>A
|
rs1225720996
|
0.00002
|
NM_000243.3(MEFV):c.278-15T>C
|
rs774149669
|
0.00002
|
NM_000243.3(MEFV):c.318G>A (p.Ala106=)
|
rs777765016
|
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.840G>A (p.Arg280=)
|
rs748624682
|
0.00002
|
NM_000243.3(MEFV):c.927G>A (p.Thr309=)
|
rs145872265
|
0.00002
|
NM_000243.3(MEFV):c.955G>A (p.Glu319Lys)
|
rs104895110
|
0.00002
|
NM_000302.4(PLOD1):c.1023C>T (p.Gly341=)
|
rs755056846
|
0.00002
|
NM_000302.4(PLOD1):c.1202+7C>T
|
rs1264171984
|
0.00002
|
NM_000302.4(PLOD1):c.1554C>T (p.Asn518=)
|
rs759491848
|
0.00002
|
NM_000302.4(PLOD1):c.1651-10C>T
|
rs755961387
|
0.00002
|
NM_000302.4(PLOD1):c.1902+9G>T
|
rs200395169
|
0.00002
|
NM_000302.4(PLOD1):c.2013C>T (p.Val671=)
|
rs541261242
|
0.00002
|
NM_000302.4(PLOD1):c.466+12G>T
|
rs774213935
|
0.00002
|
NM_000302.4(PLOD1):c.570G>A (p.Pro190=)
|
rs776173072
|
0.00002
|
NM_000302.4(PLOD1):c.742-6C>T
|
rs569632202
|
0.00002
|
NM_000302.4(PLOD1):c.834G>A (p.Lys278=)
|
rs557353959
|
0.00002
|
NM_000302.4(PLOD1):c.861G>A (p.Thr287=)
|
rs747570972
|
0.00002
|
NM_000302.4(PLOD1):c.882C>T (p.Ile294=)
|
rs747668784
|
0.00002
|
NM_000302.4(PLOD1):c.939C>T (p.Tyr313=)
|
rs1411565422
|
0.00002
|
NM_000388.4(CASR):c.1377+17T>C
|
rs200650843
|
0.00002
|
NM_000388.4(CASR):c.675A>G (p.Lys225=)
|
rs202226622
|
0.00002
|
NM_000388.4(CASR):c.909C>G (p.Ser303=)
|
rs375005541
|
0.00002
|
NM_000431.4(MVK):c.1040-10C>T
|
rs374344390
|
0.00002
|
NM_000431.4(MVK):c.1156G>A (p.Asp386Asn)
|
rs104895380
|
0.00002
|
NM_000431.4(MVK):c.615T>C (p.Asn205=)
|
rs201069079
|
0.00002
|
NM_000431.4(MVK):c.677+18C>T
|
rs768375091
|
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.927C>T (p.Gly309=)
|
rs762580578
|
0.00002
|
NM_000546.6(TP53):c.-12C>T
|
rs375229869
|
0.00002
|
NM_000628.5(IL10RB):c.432T>A (p.Thr144=)
|
rs539389729
|
0.00002
|
NM_000628.5(IL10RB):c.768C>T (p.Phe256=)
|
rs1427524440
|
0.00002
|
NM_000628.5(IL10RB):c.822T>C (p.His274=)
|
rs146668107
|
0.00002
|
NM_000628.5(IL10RB):c.891C>T (p.Val297=)
|
rs373486817
|
0.00002
|
NM_001032283.3(TMPO):c.153G>A (p.Pro51=)
|
rs755323971
|
0.00002
|
NM_001032283.3(TMPO):c.51G>A (p.Lys17=)
|
rs766680931
|
0.00002
|
NM_001032283.3(TMPO):c.565+1232C>T
|
rs369897433
|
0.00002
|
NM_001032283.3(TMPO):c.565+2150A>G
|
rs200856956
|
0.00002
|
NM_001042492.3(NF1):c.3441T>C (p.Leu1147=)
|
rs747330799
|
0.00002
|
NM_001042492.3(NF1):c.4668T>C (p.Asp1556=)
|
rs763874870
|
0.00002
|
NM_001042492.3(NF1):c.587-20A>T
|
rs776533188
|
0.00002
|
NM_001042492.3(NF1):c.7615+7T>C
|
rs779078444
|
0.00002
|
NM_001042492.3(NF1):c.8160+9A>C
|
rs997202389
|
0.00002
|
NM_001042492.3(NF1):c.8385C>T (p.Asp2795=)
|
rs144635489
|
0.00002
|
NM_001065.4(TNFRSF1A):c.1002C>T (p.Ile334=)
|
rs748720159
|
0.00002
|
NM_001065.4(TNFRSF1A):c.1083C>G (p.Ala361=)
|
rs746923911
|
0.00002
|
NM_001065.4(TNFRSF1A):c.1233G>A (p.Thr411=)
|
rs1176222642
|
0.00002
|
NM_001065.4(TNFRSF1A):c.1257G>A (p.Glu419=)
|
rs199636425
|
0.00002
|
NM_001065.4(TNFRSF1A):c.1343C>T (p.Pro448Leu)
|
rs1289887403
|
0.00002
|
NM_001065.4(TNFRSF1A):c.193+18C>T
|
rs757177584
|
0.00002
|
NM_001065.4(TNFRSF1A):c.228G>A (p.Gly76=)
|
rs104895274
|
0.00002
|
NM_001065.4(TNFRSF1A):c.243C>T (p.Cys81=)
|
rs56002980
|
0.00002
|
NM_001065.4(TNFRSF1A):c.549T>C (p.Ser183=)
|
rs200963205
|
0.00002
|
NM_001065.4(TNFRSF1A):c.558G>A (p.Lys186=)
|
rs104895275
|
0.00002
|
NM_001065.4(TNFRSF1A):c.740-16C>T
|
rs201046148
|
0.00002
|
NM_001110556.2(FLNA):c.1487G>A (p.Arg496Gln)
|
rs782539251
|
0.00002
|
NM_001111.5(ADAR):c.1395T>C (p.Ser465=)
|
rs1367816340
|
0.00002
|
NM_001111.5(ADAR):c.141C>T (p.Leu47=)
|
rs772129626
|
0.00002
|
NM_001111.5(ADAR):c.1626T>C (p.Asn542=)
|
rs1305480769
|
0.00002
|
NM_001111.5(ADAR):c.1638T>C (p.Phe546=)
|
rs747546677
|
0.00002
|
NM_001111.5(ADAR):c.1785+10C>G
|
rs535441726
|
0.00002
|
NM_001111.5(ADAR):c.2058C>T (p.Asn686=)
|
rs747183900
|
0.00002
|
NM_001111.5(ADAR):c.2079+19C>T
|
rs754677757
|
0.00002
|
NM_001111.5(ADAR):c.2151C>T (p.Gly717=)
|
rs775619389
|
0.00002
|
NM_001111.5(ADAR):c.2157C>T (p.Leu719=)
|
rs35801582
|
0.00002
|
NM_001111.5(ADAR):c.2202C>T (p.Tyr734=)
|
rs375867672
|
0.00002
|
NM_001111.5(ADAR):c.2382G>A (p.Gly794=)
|
rs756084799
|
0.00002
|
NM_001111.5(ADAR):c.2388C>T (p.Asn796=)
|
rs1251582638
|
0.00002
|
NM_001111.5(ADAR):c.2592C>T (p.Leu864=)
|
rs138707431
|
0.00002
|
NM_001111.5(ADAR):c.2762+7G>A
|
rs201315688
|
0.00002
|
NM_001111.5(ADAR):c.2805G>A (p.Ala935=)
|
rs375643914
|
0.00002
|
NM_001111.5(ADAR):c.288C>T (p.Gly96=)
|
rs779403614
|
0.00002
|
NM_001111.5(ADAR):c.2907C>T (p.Gly969=)
|
rs185906367
|
0.00002
|
NM_001111.5(ADAR):c.3019+9T>C
|
rs17843869
|
0.00002
|
NM_001111.5(ADAR):c.3315+19A>G
|
rs755912668
|
0.00002
|
NM_001111.5(ADAR):c.3366G>A (p.Lys1122=)
|
rs369182324
|
0.00002
|
NM_001111.5(ADAR):c.3504C>G (p.Leu1168=)
|
rs566390171
|
0.00002
|
NM_001111.5(ADAR):c.3582G>A (p.Thr1194=)
|
rs776752850
|
0.00002
|
NM_001111.5(ADAR):c.504G>A (p.Pro168=)
|
rs547227391
|
0.00002
|
NM_001111.5(ADAR):c.591C>T (p.Ile197=)
|
rs202096621
|
0.00002
|
NM_001111.5(ADAR):c.624C>T (p.Ser208=)
|
rs755808579
|
0.00002
|
NM_001111.5(ADAR):c.687G>A (p.Pro229=)
|
rs762320645
|
0.00002
|
NM_001111.5(ADAR):c.771C>T (p.Ser257=)
|
rs368596210
|
0.00002
|
NM_001122681.2(SH3BP2):c.1098C>T (p.Asp366=)
|
rs751722349
|
0.00002
|
NM_001122681.2(SH3BP2):c.1254C>T (p.Pro418=)
|
rs201959118
|
0.00002
|
NM_001122681.2(SH3BP2):c.1368G>A (p.Ser456=)
|
rs781567345
|
0.00002
|
NM_001122681.2(SH3BP2):c.137-11A>G
|
rs759834339
|
0.00002
|
NM_001122681.2(SH3BP2):c.1489-9G>A
|
rs777133458
|
0.00002
|
NM_001122681.2(SH3BP2):c.207G>A (p.Pro69=)
|
rs1017260878
|
0.00002
|
NM_001122681.2(SH3BP2):c.644C>G (p.Pro215Arg)
|
rs201983881
|
0.00002
|
NM_001122681.2(SH3BP2):c.714G>A (p.Pro238=)
|
rs369981092
|
0.00002
|
NM_001122681.2(SH3BP2):c.849C>T (p.Ser283=)
|
rs750082688
|
0.00002
|
NM_001171.6(ABCC6):c.2649C>T (p.Pro883=)
|
rs373335815
|
0.00002
|
NM_001171.6(ABCC6):c.3422G>A (p.Arg1141Gln)
|
rs572351621
|
0.00002
|
NM_001199138.2(NLRC4):c.105C>T (p.Arg35=)
|
rs751915363
|
0.00002
|
NM_001199138.2(NLRC4):c.129C>T (p.Cys43=)
|
rs200374202
|
0.00002
|
NM_001199138.2(NLRC4):c.1357C>T (p.Arg453Ter)
|
rs765641913
|
0.00002
|
NM_001199138.2(NLRC4):c.186T>C (p.Gly62=)
|
rs748260149
|
0.00002
|
NM_001199138.2(NLRC4):c.199A>C (p.Asn67His)
|
rs545004876
|
0.00002
|
NM_001199138.2(NLRC4):c.2-11C>T
|
rs1166331051
|
0.00002
|
NM_001199138.2(NLRC4):c.2350+12G>C
|
rs201505739
|
0.00002
|
NM_001199138.2(NLRC4):c.2487C>T (p.Ser829=)
|
rs367982825
|
0.00002
|
NM_001199138.2(NLRC4):c.249C>T (p.Asp83=)
|
rs117094017
|
0.00002
|
NM_001199138.2(NLRC4):c.2607T>C (p.His869=)
|
rs773003121
|
0.00002
|
NM_001199138.2(NLRC4):c.2957A>G (p.Lys986Arg)
|
rs552117780
|
0.00002
|
NM_001199138.2(NLRC4):c.3033T>G (p.Asp1011Glu)
|
rs150062306
|
0.00002
|
NM_001199138.2(NLRC4):c.912C>T (p.Ser304=)
|
rs368788664
|
0.00002
|
NM_001243133.2(NLRP3):c.112C>T (p.Pro38Ser)
|
rs200729212
|
0.00002
|
NM_001243133.2(NLRP3):c.1269G>A (p.Gln423=)
|
rs201035625
|
0.00002
|
NM_001243133.2(NLRP3):c.1362G>C (p.Gly454=)
|
rs200314422
|
0.00002
|
NM_001243133.2(NLRP3):c.1371G>T (p.Glu457Asp)
|
rs191754224
|
0.00002
|
NM_001243133.2(NLRP3):c.1455C>T (p.Ser485=)
|
rs369953078
|
0.00002
|
NM_001243133.2(NLRP3):c.219C>T (p.Phe73=)
|
rs201980166
|
0.00002
|
NM_001243133.2(NLRP3):c.2241T>C (p.Ser747=)
|
rs199535084
|
0.00002
|
NM_001243133.2(NLRP3):c.2286G>A (p.Thr762=)
|
rs199765599
|
0.00002
|
NM_001243133.2(NLRP3):c.2322-6A>G
|
rs778792605
|
0.00002
|
NM_001243133.2(NLRP3):c.2419G>A (p.Ala807Thr)
|
rs201096167
|
0.00002
|
NM_001243133.2(NLRP3):c.2433C>T (p.Phe811=)
|
rs143175395
|
0.00002
|
NM_001243133.2(NLRP3):c.277+13A>C
|
rs1302383088
|
0.00002
|
NM_001243133.2(NLRP3):c.277+17C>T
|
rs760634564
|
0.00002
|
NM_001243133.2(NLRP3):c.2856G>A (p.Thr952=)
|
rs200474558
|
0.00002
|
NM_001243133.2(NLRP3):c.729G>A (p.Ser243=)
|
rs147198684
|
0.00002
|
NM_001243133.2(NLRP3):c.999C>A (p.Leu333=)
|
rs762774277
|
0.00002
|
NM_001282225.2(ADA2):c.1081+10C>T
|
rs777906358
|
0.00002
|
NM_001282225.2(ADA2):c.1082-10G>A
|
rs772238679
|
0.00002
|
NM_001282225.2(ADA2):c.1203G>A (p.Lys401=)
|
rs960845017
|
0.00002
|
NM_001282225.2(ADA2):c.1240-4G>A
|
rs543336918
|
0.00002
|
NM_001282225.2(ADA2):c.1443-16C>T
|
rs750495508
|
0.00002
|
NM_001282225.2(ADA2):c.354C>T (p.Ile118=)
|
rs548409372
|
0.00002
|
NM_001282225.2(ADA2):c.522C>T (p.Asn174=)
|
rs746651975
|
0.00002
|
NM_001282225.2(ADA2):c.579G>A (p.Pro193=)
|
rs771793355
|
0.00002
|
NM_001282225.2(ADA2):c.717C>T (p.Asn239=)
|
rs142247490
|
0.00002
|
NM_001366385.1(CARD14):c.198C>T (p.Ser66=)
|
rs1254076623
|
0.00002
|
NM_001370466.1(NOD2):c.133G>A (p.Glu45Lys)
|
rs760069458
|
0.00002
|
NM_001370466.1(NOD2):c.1569G>C (p.Leu523=)
|
rs372877004
|
0.00002
|
NM_001370466.1(NOD2):c.189C>T (p.Asp63=)
|
rs771336423
|
0.00002
|
NM_001370466.1(NOD2):c.2130C>T (p.Pro710=)
|
rs769210593
|
0.00002
|
NM_001370466.1(NOD2):c.2133G>C (p.Gly711=)
|
rs143963486
|
0.00002
|
NM_001370466.1(NOD2):c.2139C>A (p.Ile713=)
|
rs104895441
|
0.00002
|
NM_001370466.1(NOD2):c.2298G>A (p.Val766=)
|
rs534738790
|
0.00002
|
NM_001370466.1(NOD2):c.2337C>G (p.Gly779=)
|
rs199475916
|
0.00002
|
NM_001370466.1(NOD2):c.2767A>C (p.Met923Leu)
|
rs527892258
|
0.00002
|
NM_001370466.1(NOD2):c.2970-16A>G
|
rs530365159
|
0.00002
|
NM_001370466.1(NOD2):c.3012C>T (p.Leu1004=)
|
rs201214915
|
0.00002
|
NM_001370466.1(NOD2):c.437C>T (p.Pro146Leu)
|
rs770524298
|
0.00002
|
NM_001370466.1(NOD2):c.510C>T (p.Ala170=)
|
rs765729513
|
0.00002
|
NM_001375808.2(LPIN2):c.1152G>A (p.Ser384=)
|
rs375168505
|
0.00002
|
NM_001375808.2(LPIN2):c.1347C>T (p.Ser449=)
|
rs773074044
|
0.00002
|
NM_001375808.2(LPIN2):c.1362C>T (p.Ser454=)
|
rs371484024
|
0.00002
|
NM_001375808.2(LPIN2):c.1489G>A (p.Glu497Lys)
|
rs201325845
|
0.00002
|
NM_001375808.2(LPIN2):c.1923C>T (p.Leu641=)
|
rs183435741
|
0.00002
|
NM_001375808.2(LPIN2):c.2174+18G>A
|
rs748082204
|
0.00002
|
NM_001375808.2(LPIN2):c.2207G>A (p.Arg736His)
|
rs779519224
|
0.00002
|
NM_001375808.2(LPIN2):c.2442+14G>C
|
rs1434250691
|
0.00002
|
NM_001375808.2(LPIN2):c.289-12A>G
|
rs375980851
|
0.00002
|
NM_001375808.2(LPIN2):c.417C>T (p.His139=)
|
rs752124144
|
0.00002
|
NM_001375808.2(LPIN2):c.561C>T (p.Ser187=)
|
rs755780342
|
0.00002
|
NM_001375808.2(LPIN2):c.591-19T>G
|
rs765447652
|
0.00002
|
NM_001375808.2(LPIN2):c.606T>C (p.Ala202=)
|
rs1157352133
|
0.00002
|
NM_001375808.2(LPIN2):c.717G>A (p.Ala239=)
|
rs146368213
|
0.00002
|
NM_001457.4(FLNB):c.1107C>T (p.Asn369=)
|
rs538953239
|
0.00002
|
NM_001457.4(FLNB):c.2523T>G (p.Pro841=)
|
rs376893941
|
0.00002
|
NM_001558.4(IL10RA):c.1140C>T (p.Ser380=)
|
rs755621591
|
0.00002
|
NM_001558.4(IL10RA):c.1326A>G (p.Ala442=)
|
rs773329545
|
0.00002
|
NM_001558.4(IL10RA):c.1701C>T (p.Thr567=)
|
rs779173498
|
0.00002
|
NM_001558.4(IL10RA):c.252C>T (p.Thr84=)
|
rs763662644
|
0.00002
|
NM_001558.4(IL10RA):c.474A>G (p.Glu158=)
|
rs756761237
|
0.00002
|
NM_001558.4(IL10RA):c.67+10C>T
|
rs55721363
|
0.00002
|
NM_001558.4(IL10RA):c.678C>T (p.Leu226=)
|
rs1357306670
|
0.00002
|
NM_001558.4(IL10RA):c.762G>A (p.Leu254=)
|
rs1033025102
|
0.00002
|
NM_001611.5(ACP5):c.262-20G>A
|
rs200885075
|
0.00002
|
NM_001611.5(ACP5):c.315C>T (p.Tyr105=)
|
rs2229530
|
0.00002
|
NM_001611.5(ACP5):c.477A>C (p.Thr159=)
|
rs147105591
|
0.00002
|
NM_001611.5(ACP5):c.480A>G (p.Leu160=)
|
rs373684791
|
0.00002
|
NM_001844.5(COL2A1):c.1138A>G (p.Thr380Ala)
|
rs748511528
|
0.00002
|
NM_001853.4(COL9A3):c.577-20G>A
|
rs928285792
|
0.00002
|
NM_001854.4(COL11A1):c.1309-7G>A
|
rs748684225
|
0.00002
|
NM_001999.4(FBN2):c.1079-10A>G
|
rs766920012
|
0.00002
|
NM_001999.4(FBN2):c.1194C>T (p.Ile398=)
|
rs766004910
|
0.00002
|
NM_001999.4(FBN2):c.1253T>C (p.Met418Thr)
|
rs769840338
|
0.00002
|
NM_001999.4(FBN2):c.125C>T (p.Pro42Leu)
|
rs773011327
|
0.00002
|
NM_001999.4(FBN2):c.1333A>G (p.Ser445Gly)
|
rs143515269
|
0.00002
|
NM_001999.4(FBN2):c.1410C>T (p.Gly470=)
|
rs750103822
|
0.00002
|
NM_001999.4(FBN2):c.1422C>T (p.Ala474=)
|
rs764073494
|
0.00002
|
NM_001999.4(FBN2):c.1434C>T (p.Ala478=)
|
rs755786214
|
0.00002
|
NM_001999.4(FBN2):c.150T>C (p.Ala50=)
|
rs543546489
|
0.00002
|
NM_001999.4(FBN2):c.1553G>A (p.Arg518Gln)
|
rs748051713
|
0.00002
|
NM_001999.4(FBN2):c.1685C>T (p.Ala562Val)
|
rs886059902
|
0.00002
|
NM_001999.4(FBN2):c.1734G>C (p.Glu578Asp)
|
rs371046485
|
0.00002
|
NM_001999.4(FBN2):c.1849+8A>G
|
rs747219934
|
0.00002
|
NM_001999.4(FBN2):c.1911C>G (p.Gly637=)
|
rs537558351
|
0.00002
|
NM_001999.4(FBN2):c.1961G>A (p.Arg654His)
|
rs780589159
|
0.00002
|
NM_001999.4(FBN2):c.2036C>T (p.Ser679Phe)
|
rs760483684
|
0.00002
|
NM_001999.4(FBN2):c.2219C>G (p.Pro740Arg)
|
rs1204171410
|
0.00002
|
NM_001999.4(FBN2):c.2532G>A (p.Arg844=)
|
rs369638207
|
0.00002
|
NM_001999.4(FBN2):c.255-15G>A
|
rs587780942
|
0.00002
|
NM_001999.4(FBN2):c.2638G>A (p.Gly880Ser)
|
rs555682061
|
0.00002
|
NM_001999.4(FBN2):c.2772C>T (p.Leu924=)
|
rs773453872
|
0.00002
|
NM_001999.4(FBN2):c.2802G>A (p.Arg934=)
|
rs140500093
|
0.00002
|
NM_001999.4(FBN2):c.2902A>G (p.Asn968Asp)
|
rs774248421
|
0.00002
|
NM_001999.4(FBN2):c.2990-8C>T
|
rs370825177
|
0.00002
|
NM_001999.4(FBN2):c.3041A>C (p.His1014Pro)
|
rs551801199
|
0.00002
|
NM_001999.4(FBN2):c.3092C>T (p.Ala1031Val)
|
rs754884110
|
0.00002
|
NM_001999.4(FBN2):c.3150G>A (p.Thr1050=)
|
rs201631085
|
0.00002
|
NM_001999.4(FBN2):c.3349G>A (p.Asp1117Asn)
|
rs537477883
|
0.00002
|
NM_001999.4(FBN2):c.3404C>T (p.Pro1135Leu)
|
rs772041342
|
0.00002
|
NM_001999.4(FBN2):c.3432A>G (p.Glu1144=)
|
rs757682009
|
0.00002
|
NM_001999.4(FBN2):c.362A>G (p.Asp121Gly)
|
rs770483769
|
0.00002
|
NM_001999.4(FBN2):c.3957C>G (p.Asp1319Glu)
|
rs769665538
|
0.00002
|
NM_001999.4(FBN2):c.3993A>G (p.Leu1331=)
|
rs141505866
|
0.00002
|
NM_001999.4(FBN2):c.4009A>G (p.Met1337Val)
|
rs776567929
|
0.00002
|
NM_001999.4(FBN2):c.404G>A (p.Gly135Glu)
|
rs778566871
|
0.00002
|
NM_001999.4(FBN2):c.4099+8T>C
|
rs765204163
|
0.00002
|
NM_001999.4(FBN2):c.4489T>G (p.Phe1497Val)
|
rs150986564
|
0.00002
|
NM_001999.4(FBN2):c.4497C>T (p.Asn1499=)
|
rs368341114
|
0.00002
|
NM_001999.4(FBN2):c.4779C>T (p.Cys1593=)
|
rs780191346
|
0.00002
|
NM_001999.4(FBN2):c.4801G>A (p.Val1601Ile)
|
rs762108847
|
0.00002
|
NM_001999.4(FBN2):c.4962C>T (p.Cys1654=)
|
rs753935960
|
0.00002
|
NM_001999.4(FBN2):c.5045A>C (p.Tyr1682Ser)
|
rs769474473
|
0.00002
|
NM_001999.4(FBN2):c.5097T>A (p.His1699Gln)
|
rs757807339
|
0.00002
|
NM_001999.4(FBN2):c.5126A>G (p.Tyr1709Cys)
|
rs759117573
|
0.00002
|
NM_001999.4(FBN2):c.533-6A>G
|
rs56400997
|
0.00002
|
NM_001999.4(FBN2):c.5574T>C (p.Asp1858=)
|
rs757483263
|
0.00002
|
NM_001999.4(FBN2):c.5678G>A (p.Arg1893His)
|
rs368384428
|
0.00002
|
NM_001999.4(FBN2):c.5703C>T (p.Asn1901=)
|
rs746592808
|
0.00002
|
NM_001999.4(FBN2):c.5787G>A (p.Gln1929=)
|
rs746307443
|
0.00002
|
NM_001999.4(FBN2):c.5819G>A (p.Arg1940Gln)
|
rs749907917
|
0.00002
|
NM_001999.4(FBN2):c.5854G>A (p.Val1952Ile)
|
rs763393398
|
0.00002
|
NM_001999.4(FBN2):c.5941T>A (p.Phe1981Ile)
|
rs527609978
|
0.00002
|
NM_001999.4(FBN2):c.629-6T>C
|
rs757696693
|
0.00002
|
NM_001999.4(FBN2):c.672G>T (p.Met224Ile)
|
rs371292311
|
0.00002
|
NM_001999.4(FBN2):c.6881-5T>G
|
rs772186151
|
0.00002
|
NM_001999.4(FBN2):c.6973C>T (p.Pro2325Ser)
|
rs751231315
|
0.00002
|
NM_001999.4(FBN2):c.6984C>T (p.Ala2328=)
|
rs942158485
|
0.00002
|
NM_001999.4(FBN2):c.69G>T (p.Ala23=)
|
rs774856011
|
0.00002
|
NM_001999.4(FBN2):c.6G>C (p.Gly2=)
|
rs746567292
|
0.00002
|
NM_001999.4(FBN2):c.7137T>G (p.Leu2379=)
|
rs765676702
|
0.00002
|
NM_001999.4(FBN2):c.7138+10C>T
|
rs1187342807
|
0.00002
|
NM_001999.4(FBN2):c.7213G>A (p.Val2405Ile)
|
rs753865904
|
0.00002
|
NM_001999.4(FBN2):c.7247G>A (p.Arg2416Gln)
|
rs755437836
|
0.00002
|
NM_001999.4(FBN2):c.7389T>A (p.Gly2463=)
|
rs749843181
|
0.00002
|
NM_001999.4(FBN2):c.7400A>G (p.Asn2467Ser)
|
rs562508529
|
0.00002
|
NM_001999.4(FBN2):c.7595-13T>C
|
rs747620496
|
0.00002
|
NM_001999.4(FBN2):c.7660T>G (p.Phe2554Val)
|
rs775848753
|
0.00002
|
NM_001999.4(FBN2):c.7960+13T>G
|
rs1023942727
|
0.00002
|
NM_001999.4(FBN2):c.7961-10G>A
|
rs752746367
|
0.00002
|
NM_001999.4(FBN2):c.8019G>C (p.Leu2673=)
|
rs144013739
|
0.00002
|
NM_001999.4(FBN2):c.8573C>T (p.Thr2858Met)
|
rs754475064
|
0.00002
|
NM_001999.4(FBN2):c.891C>A (p.Gly297=)
|
rs539258943
|
0.00002
|
NM_002609.4(PDGFRB):c.168T>A (p.Gly56=)
|
rs532483221
|
0.00002
|
NM_002609.4(PDGFRB):c.3297G>A (p.Ala1099=)
|
rs376978985
|
0.00002
|
NM_002609.4(PDGFRB):c.541G>A (p.Gly181Ser)
|
rs574853772
|
0.00002
|
NM_002609.4(PDGFRB):c.657C>T (p.Asn219=)
|
rs745467275
|
0.00002
|
NM_002661.5(PLCG2):c.1072+8G>A
|
rs927187177
|
0.00002
|
NM_002661.5(PLCG2):c.1363-12T>A
|
rs769297164
|
0.00002
|
NM_002661.5(PLCG2):c.1437G>A (p.Gly479=)
|
rs755597785
|
0.00002
|
NM_002661.5(PLCG2):c.1557+18C>T
|
rs376076039
|
0.00002
|
NM_002661.5(PLCG2):c.1558-16T>A
|
rs762957732
|
0.00002
|
NM_002661.5(PLCG2):c.1583T>G (p.Phe528Cys)
|
rs746114863
|
0.00002
|
NM_002661.5(PLCG2):c.1733+11C>T
|
rs750585339
|
0.00002
|
NM_002661.5(PLCG2):c.1869C>T (p.Arg623=)
|
rs1351089376
|
0.00002
|
NM_002661.5(PLCG2):c.1935-4G>A
|
rs762488045
|
0.00002
|
NM_002661.5(PLCG2):c.2054+8C>T
|
rs757609061
|
0.00002
|
NM_002661.5(PLCG2):c.2178C>T (p.Tyr726=)
|
rs201084625
|
0.00002
|
NM_002661.5(PLCG2):c.225A>G (p.Pro75=)
|
rs1186480762
|
0.00002
|
NM_002661.5(PLCG2):c.2304C>G (p.Ser768=)
|
rs1340499254
|
0.00002
|
NM_002661.5(PLCG2):c.2307+10C>T
|
rs1284524583
|
0.00002
|
NM_002661.5(PLCG2):c.2352A>T (p.Arg784=)
|
rs1162244155
|
0.00002
|
NM_002661.5(PLCG2):c.246C>T (p.Phe82=)
|
rs771764012
|
0.00002
|
NM_002661.5(PLCG2):c.2514+20C>T
|
rs769324231
|
0.00002
|
NM_002661.5(PLCG2):c.2515-15C>T
|
rs765087864
|
0.00002
|
NM_002661.5(PLCG2):c.2740-13G>A
|
rs1280371637
|
0.00002
|
NM_002661.5(PLCG2):c.3052+9C>T
|
rs202214266
|
0.00002
|
NM_002661.5(PLCG2):c.3072T>C (p.Asn1024=)
|
rs755927399
|
0.00002
|
NM_002661.5(PLCG2):c.3075C>T (p.His1025=)
|
rs368241065
|
0.00002
|
NM_002661.5(PLCG2):c.3101C>T (p.Thr1034Met)
|
rs563473638
|
0.00002
|
NM_002661.5(PLCG2):c.3199-16C>T
|
rs201410855
|
0.00002
|
NM_002661.5(PLCG2):c.338-16C>T
|
rs773467785
|
0.00002
|
NM_002661.5(PLCG2):c.3693G>A (p.Leu1231=)
|
rs62046284
|
0.00002
|
NM_002661.5(PLCG2):c.414G>A (p.Thr138=)
|
rs781285726
|
0.00002
|
NM_002661.5(PLCG2):c.505A>G (p.Ile169Val)
|
rs200464512
|
0.00002
|
NM_002661.5(PLCG2):c.654C>T (p.Leu218=)
|
rs780503141
|
0.00002
|
NM_002661.5(PLCG2):c.72G>C (p.Leu24=)
|
rs756167862
|
0.00002
|
NM_002661.5(PLCG2):c.986+11G>A
|
rs762718227
|
0.00002
|
NM_002834.5(PTPN11):c.327T>G (p.Ser109=)
|
rs1039250039
|
0.00002
|
NM_003036.4(SKI):c.1034C>T (p.Ala345Val)
|
rs201599402
|
0.00002
|
NM_003036.4(SKI):c.1059C>T (p.Ser353=)
|
rs375991331
|
0.00002
|
NM_003036.4(SKI):c.1153G>A (p.Ala385Thr)
|
rs758235470
|
0.00002
|
NM_003036.4(SKI):c.1211+17C>T
|
rs753878221
|
0.00002
|
NM_003036.4(SKI):c.1382C>T (p.Thr461Ile)
|
rs141464453
|
0.00002
|
NM_003036.4(SKI):c.1400C>T (p.Thr467Met)
|
rs752151031
|
0.00002
|
NM_003036.4(SKI):c.1553C>T (p.Ala518Val)
|
rs776056360
|
0.00002
|
NM_003036.4(SKI):c.1569G>A (p.Ser523=)
|
rs767052019
|
0.00002
|
NM_003036.4(SKI):c.1596C>T (p.Ala532=)
|
rs752673852
|
0.00002
|
NM_003036.4(SKI):c.1599C>T (p.Asp533=)
|
rs758323266
|
0.00002
|
NM_003036.4(SKI):c.1654G>A (p.Gly552Ser)
|
rs1010245755
|
0.00002
|
NM_003036.4(SKI):c.1967C>T (p.Ala656Val)
|
rs571976990
|
0.00002
|
NM_003036.4(SKI):c.2013G>A (p.Gln671=)
|
rs1040803635
|
0.00002
|
NM_003036.4(SKI):c.209C>T (p.Pro70Leu)
|
rs994969301
|
0.00002
|
NM_003036.4(SKI):c.2165G>A (p.Gly722Asp)
|
rs1488554459
|
0.00002
|
NM_003036.4(SKI):c.762C>T (p.Tyr254=)
|
rs56352201
|
0.00002
|
NM_003036.4(SKI):c.930A>G (p.Lys310=)
|
rs751629802
|
0.00002
|
NM_003036.4(SKI):c.975C>T (p.Ser325=)
|
rs753145672
|
0.00002
|
NM_003036.4(SKI):c.985C>T (p.Pro329Ser)
|
rs770539313
|
0.00002
|
NM_003183.6(ADAM17):c.1299T>C (p.Tyr433=)
|
rs747757837
|
0.00002
|
NM_003183.6(ADAM17):c.162G>A (p.Ser54=)
|
rs762599369
|
0.00002
|
NM_003183.6(ADAM17):c.1784-19del
|
rs754520514
|
0.00002
|
NM_003183.6(ADAM17):c.180A>G (p.Leu60=)
|
rs776442513
|
0.00002
|
NM_003183.6(ADAM17):c.207A>G (p.Leu69=)
|
rs141846970
|
0.00002
|
NM_003183.6(ADAM17):c.408T>C (p.Val136=)
|
rs538546425
|
0.00002
|
NM_003183.6(ADAM17):c.451-15T>C
|
rs376334773
|
0.00002
|
NM_003183.6(ADAM17):c.958-8T>G
|
rs777073815
|
0.00002
|
NM_003238.6(TGFB2):c.1087-13T>G
|
rs374394434
|
0.00002
|
NM_003238.6(TGFB2):c.456T>C (p.Phe152=)
|
rs372071268
|
0.00002
|
NM_003238.6(TGFB2):c.798T>A (p.Thr266=)
|
rs376354795
|
0.00002
|
NM_003239.5(TGFB3):c.1134C>T (p.Cys378=)
|
rs780993645
|
0.00002
|
NM_003239.5(TGFB3):c.324C>T (p.Phe108=)
|
rs779502039
|
0.00002
|
NM_003239.5(TGFB3):c.693C>T (p.Thr231=)
|
rs780510419
|
0.00002
|
NM_003242.6(TGFBR2):c.1042C>T (p.Arg348Cys)
|
rs144701411
|
0.00002
|
NM_003242.6(TGFBR2):c.927G>A (p.Thr309=)
|
rs756625146
|
0.00002
|
NM_003664.5(AP3B1):c.1186T>C (p.Leu396=)
|
rs574476271
|
0.00002
|
NM_003978.5(PSTPIP1):c.1062G>A (p.Gln354=)
|
rs757597315
|
0.00002
|
NM_003978.5(PSTPIP1):c.1071G>A (p.Pro357=)
|
rs367643394
|
0.00002
|
NM_003978.5(PSTPIP1):c.247+1G>A
|
rs573784011
|
0.00002
|
NM_003978.5(PSTPIP1):c.477G>A (p.Glu159=)
|
rs780297337
|
0.00002
|
NM_003978.5(PSTPIP1):c.516+3G>A
|
rs764658426
|
0.00002
|
NM_003978.5(PSTPIP1):c.549G>A (p.Ser183=)
|
rs554161203
|
0.00002
|
NM_003978.5(PSTPIP1):c.643-13C>A
|
rs200459219
|
0.00002
|
NM_003978.5(PSTPIP1):c.66C>T (p.Tyr22=)
|
rs373516507
|
0.00002
|
NM_003978.5(PSTPIP1):c.792C>T (p.Asp264=)
|
rs1224633016
|
0.00002
|
NM_003978.5(PSTPIP1):c.838+9C>T
|
rs778120164
|
0.00002
|
NM_003978.5(PSTPIP1):c.987G>A (p.Ala329=)
|
rs750823506
|
0.00002
|
NM_004364.5(CEBPA):c.39C>G (p.Pro13=)
|
rs1015459376
|
0.00002
|
NM_004364.5(CEBPA):c.525G>A (p.Leu175=)
|
rs975118445
|
0.00002
|
NM_004364.5(CEBPA):c.576G>A (p.Pro192=)
|
rs878854703
|
0.00002
|
NM_004364.5(CEBPA):c.765G>T (p.Gly255=)
|
rs1163957359
|
0.00002
|
NM_004364.5(CEBPA):c.897C>T (p.Ser299=)
|
rs893018541
|
0.00002
|
NM_004371.4(COPA):c.1164T>C (p.Asn388=)
|
rs368519186
|
0.00002
|
NM_004371.4(COPA):c.1316A>G (p.Asn439Ser)
|
rs150468408
|
0.00002
|
NM_004371.4(COPA):c.1668-19C>T
|
rs529400709
|
0.00002
|
NM_004371.4(COPA):c.1978-19G>A
|
rs770019968
|
0.00002
|
NM_004371.4(COPA):c.2211A>G (p.Leu737=)
|
rs756897477
|
0.00002
|
NM_004371.4(COPA):c.2263+12A>C
|
rs748204379
|
0.00002
|
NM_004371.4(COPA):c.2515A>T (p.Thr839Ser)
|
rs745391240
|
0.00002
|
NM_004371.4(COPA):c.2519T>C (p.Val840Ala)
|
rs778952692
|
0.00002
|
NM_004371.4(COPA):c.2551C>T (p.Leu851=)
|
rs997140060
|
0.00002
|
NM_004371.4(COPA):c.2580G>A (p.Glu860=)
|
rs747963957
|
0.00002
|
NM_004371.4(COPA):c.2681T>C (p.Ile894Thr)
|
rs575105119
|
0.00002
|
NM_004371.4(COPA):c.2690G>A (p.Gly897Glu)
|
rs201089543
|
0.00002
|
NM_004371.4(COPA):c.2775G>A (p.Gln925=)
|
rs761577917
|
0.00002
|
NM_004371.4(COPA):c.336C>T (p.Ser112=)
|
rs188665868
|
0.00002
|
NM_004371.4(COPA):c.3465C>T (p.Ala1155=)
|
rs746436312
|
0.00002
|
NM_004371.4(COPA):c.603A>G (p.Leu201=)
|
rs773046847
|
0.00002
|
NM_004371.4(COPA):c.66T>C (p.Pro22=)
|
rs749278884
|
0.00002
|
NM_004371.4(COPA):c.765C>T (p.Ala255=)
|
rs774521461
|
0.00002
|
NM_005188.4(CBL):c.1927C>T (p.Leu643=)
|
rs139939244
|
0.00002
|
NM_005373.3(MPL):c.1014G>A (p.Glu338=)
|
rs767497390
|
0.00002
|
NM_005373.3(MPL):c.1134C>T (p.Tyr378=)
|
rs749571171
|
0.00002
|
NM_005373.3(MPL):c.120T>C (p.Cys40=)
|
rs747864027
|
0.00002
|
NM_005373.3(MPL):c.1632G>A (p.Arg544=)
|
rs780927987
|
0.00002
|
NM_005546.4(ITK):c.244-8G>A
|
rs199759038
|
0.00002
|
NM_006258.4(PRKG1):c.1749C>T (p.Asn583=)
|
rs765040798
|
0.00002
|
NM_006397.3(RNASEH2A):c.309C>T (p.Thr103=)
|
rs755642568
|
0.00002
|
NM_006397.3(RNASEH2A):c.384A>T (p.Ala128=)
|
rs781729375
|
0.00002
|
NM_006397.3(RNASEH2A):c.412-17G>A
|
rs778916656
|
0.00002
|
NM_006397.3(RNASEH2A):c.465A>G (p.Gln155=)
|
rs758492414
|
0.00002
|
NM_006397.3(RNASEH2A):c.474C>T (p.Pro158=)
|
rs201180210
|
0.00002
|
NM_006397.3(RNASEH2A):c.637+18C>G
|
rs372421261
|
0.00002
|
NM_006397.3(RNASEH2A):c.720G>A (p.Thr240=)
|
rs752200471
|
0.00002
|
NM_012275.3(IL36RN):c.244-13C>T
|
rs762586699
|
0.00002
|
NM_015474.4(SAMHD1):c.1063-6C>T
|
rs751597956
|
0.00002
|
NM_015474.4(SAMHD1):c.1224C>A (p.Arg408=)
|
rs963896466
|
0.00002
|
NM_015474.4(SAMHD1):c.1359A>G (p.Leu453=)
|
rs142183953
|
0.00002
|
NM_015474.4(SAMHD1):c.209-4A>G
|
rs961575949
|
0.00002
|
NM_015474.4(SAMHD1):c.342A>G (p.Thr114=)
|
rs760417947
|
0.00002
|
NM_015474.4(SAMHD1):c.384C>T (p.Leu128=)
|
rs756023341
|
0.00002
|
NM_015474.4(SAMHD1):c.897G>A (p.Glu299=)
|
rs766301679
|
0.00002
|
NM_022168.4(IFIH1):c.1152G>A (p.Trp384Ter)
|
rs199917968
|
0.00002
|
NM_022168.4(IFIH1):c.1377G>A (p.Arg459=)
|
rs771166114
|
0.00002
|
NM_022168.4(IFIH1):c.1498G>A (p.Ala500Thr)
|
rs775333857
|
0.00002
|
NM_022168.4(IFIH1):c.1527A>G (p.Leu509=)
|
rs749062549
|
0.00002
|
NM_022168.4(IFIH1):c.1658A>T (p.Lys553Ile)
|
rs749596514
|
0.00002
|
NM_022168.4(IFIH1):c.1701G>A (p.Met567Ile)
|
rs765060493
|
0.00002
|
NM_022168.4(IFIH1):c.1757A>G (p.Glu586Gly)
|
rs777933362
|
0.00002
|
NM_022168.4(IFIH1):c.1860A>G (p.Ile620Met)
|
rs752494417
|
0.00002
|
NM_022168.4(IFIH1):c.1886T>C (p.Phe629Ser)
|
rs200980825
|
0.00002
|
NM_022168.4(IFIH1):c.1915G>A (p.Ala639Thr)
|
rs774347658
|
0.00002
|
NM_022168.4(IFIH1):c.1953T>A (p.Asp651Glu)
|
rs754434877
|
0.00002
|
NM_022168.4(IFIH1):c.2019T>C (p.Asp673=)
|
rs779835794
|
0.00002
|
NM_022168.4(IFIH1):c.2044+20A>G
|
rs375843812
|
0.00002
|
NM_022168.4(IFIH1):c.21A>C (p.Thr7=)
|
rs757115617
|
0.00002
|
NM_022168.4(IFIH1):c.2334T>G (p.Phe778Leu)
|
rs774912983
|
0.00002
|
NM_022168.4(IFIH1):c.2366C>T (p.Thr789Ile)
|
rs778200491
|
0.00002
|
NM_022168.4(IFIH1):c.2491G>A (p.Val831Ile)
|
rs750993424
|
0.00002
|
NM_022168.4(IFIH1):c.2763T>C (p.His921=)
|
rs772582837
|
0.00002
|
NM_022168.4(IFIH1):c.299C>G (p.Thr100Arg)
|
rs757803902
|
0.00002
|
NM_022168.4(IFIH1):c.564A>G (p.Thr188=)
|
rs758694037
|
0.00002
|
NM_022168.4(IFIH1):c.688C>T (p.Gln230Ter)
|
rs771251917
|
0.00002
|
NM_022168.4(IFIH1):c.691C>A (p.Pro231Thr)
|
rs749404410
|
0.00002
|
NM_022168.4(IFIH1):c.700G>C (p.Glu234Gln)
|
rs960791103
|
0.00002
|
NM_022168.4(IFIH1):c.729C>G (p.Asn243Lys)
|
rs778501846
|
0.00002
|
NM_022168.4(IFIH1):c.769+12A>T
|
rs544226741
|
0.00002
|
NM_023110.3(FGFR1):c.1663+10G>A
|
rs901498652
|
0.00002
|
NM_023110.3(FGFR1):c.2238C>T (p.Thr746=)
|
rs774683007
|
0.00002
|
NM_023110.3(FGFR1):c.621+19G>A
|
rs945311072
|
0.00002
|
NM_024408.4(NOTCH2):c.1539C>A (p.Val513=)
|
rs781817441
|
0.00002
|
NM_024408.4(NOTCH2):c.1911G>A (p.Thr637=)
|
rs369028361
|
0.00002
|
NM_024408.4(NOTCH2):c.2981+18C>T
|
rs374603203
|
0.00002
|
NM_024408.4(NOTCH2):c.3450C>T (p.Leu1150=)
|
rs781818195
|
0.00002
|
NM_024408.4(NOTCH2):c.4002C>G (p.Pro1334=)
|
rs1390174762
|
0.00002
|
NM_024408.4(NOTCH2):c.4458G>A (p.Thr1486=)
|
rs61756001
|
0.00002
|
NM_024408.4(NOTCH2):c.4998C>T (p.Val1666=)
|
rs765967094
|
0.00002
|
NM_024408.4(NOTCH2):c.5592C>T (p.Tyr1864=)
|
rs770289962
|
0.00002
|
NM_024408.4(NOTCH2):c.6028-13G>T
|
rs763457919
|
0.00002
|
NM_024529.5(CDC73):c.201G>A (p.Val67=)
|
rs752298916
|
0.00002
|
NM_024570.4(RNASEH2B):c.177G>A (p.Gln59=)
|
rs141881672
|
0.00002
|
NM_024570.4(RNASEH2B):c.360C>T (p.Asn120=)
|
rs759273327
|
0.00002
|
NM_024570.4(RNASEH2B):c.65-11T>C
|
rs374358281
|
0.00002
|
NM_030777.4(SLC2A10):c.1299T>C (p.Leu433=)
|
rs879632885
|
0.00002
|
NM_030777.4(SLC2A10):c.1412-13C>T
|
rs371888996
|
0.00002
|
NM_030777.4(SLC2A10):c.1536C>T (p.Phe512=)
|
rs745307904
|
0.00002
|
NM_030777.4(SLC2A10):c.876C>A (p.Asp292Glu)
|
rs777604168
|
0.00002
|
NM_030777.4(SLC2A10):c.915C>T (p.Ala305=)
|
rs199975775
|
0.00002
|
NM_031229.4(RBCK1):c.1398C>T (p.Thr466=)
|
rs532857178
|
0.00002
|
NM_031229.4(RBCK1):c.1446C>T (p.Gly482=)
|
rs749891698
|
0.00002
|
NM_031229.4(RBCK1):c.180C>T (p.Ser60=)
|
rs757115540
|
0.00002
|
NM_031229.4(RBCK1):c.576C>T (p.Pro192=)
|
rs976327623
|
0.00002
|
NM_031229.4(RBCK1):c.663C>G (p.Pro221=)
|
rs750427179
|
0.00002
|
NM_031229.4(RBCK1):c.757-10G>T
|
rs1472775469
|
0.00002
|
NM_031229.4(RBCK1):c.757-16C>A
|
rs1203285203
|
0.00002
|
NM_031229.4(RBCK1):c.917+15C>T
|
rs963667842
|
0.00002
|
NM_031229.4(RBCK1):c.993G>A (p.Ser331=)
|
rs750664557
|
0.00002
|
NM_032193.4(RNASEH2C):c.172+12G>A
|
rs1169841008
|
0.00002
|
NM_032193.4(RNASEH2C):c.349-6C>T
|
rs774542613
|
0.00002
|
NM_033629.6(TREX1):c.303T>C (p.Asp101=)
|
rs140833802
|
0.00002
|
NM_033629.6(TREX1):c.555C>T (p.Arg185=)
|
rs755796904
|
0.00002
|
NM_033629.6(TREX1):c.813G>A (p.Lys271=)
|
rs780078867
|
0.00002
|
NM_033629.6(TREX1):c.894C>T (p.Thr298=)
|
rs764559601
|
0.00002
|
NM_053025.4(MYLK):c.1651+14G>A
|
rs762288574
|
0.00002
|
NM_080680.3(COL11A2):c.1446+19C>T
|
rs368415304
|
0.00002
|
NM_144687.4(NLRP12):c.1350G>A (p.Pro450=)
|
rs555586746
|
0.00002
|
NM_144687.4(NLRP12):c.2120C>T (p.Ala707Val)
|
rs202169378
|
0.00002
|
NM_144687.4(NLRP12):c.2121G>A (p.Ala707=)
|
rs375229272
|
0.00002
|
NM_144687.4(NLRP12):c.2243+11G>T
|
rs752872985
|
0.00002
|
NM_144687.4(NLRP12):c.2415-6C>T
|
rs376432735
|
0.00002
|
NM_144687.4(NLRP12):c.2424G>A (p.Lys808=)
|
rs144968624
|
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.2792A>G (p.Glu931Gly)
|
rs566677129
|
0.00002
|
NM_144687.4(NLRP12):c.2927+9C>T
|
rs377043604
|
0.00002
|
NM_144687.4(NLRP12):c.444G>C (p.Gly148=)
|
rs751685804
|
0.00002
|
NM_144687.4(NLRP12):c.538G>A (p.Gly180Ser)
|
rs563974183
|
0.00002
|
NM_144687.4(NLRP12):c.60C>G (p.Leu20=)
|
rs750274008
|
0.00002
|
NM_144687.4(NLRP12):c.78G>A (p.Lys26=)
|
rs148263031
|
0.00002
|
NM_144687.4(NLRP12):c.885C>A (p.Gly295=)
|
rs377595027
|
0.00002
|
NM_148919.4(PSMB8):c.315G>A (p.Lys105=)
|
rs747690980
|
0.00002
|
NM_148919.4(PSMB8):c.762T>C (p.Asp254=)
|
rs369525405
|
0.00002
|
NM_173842.3(IL1RN):c.219G>A (p.Val73=)
|
rs767496834
|
0.00002
|
NM_173842.3(IL1RN):c.261A>G (p.Gly87=)
|
rs770774243
|
0.00002
|
NM_173842.3(IL1RN):c.486T>C (p.Pro162=)
|
rs772299998
|
0.00002
|
NM_198282.4(STING1):c.105G>C (p.Gly35=)
|
rs755029181
|
0.00002
|
NM_198282.4(STING1):c.380C>T (p.Ser127Leu)
|
rs149528532
|
0.00002
|
NM_198282.4(STING1):c.726C>T (p.Asn242=)
|
rs371971795
|
0.00002
|
NM_207122.2(EXT2):c.11C>T (p.Ser4Leu)
|
rs527624522
|
0.00002
|
NM_207122.2(EXT2):c.1306-7C>G
|
rs771232346
|
0.00002
|
NM_207122.2(EXT2):c.1389C>T (p.Tyr463=)
|
rs1166915261
|
0.00002
|
NM_207122.2(EXT2):c.1587C>T (p.Ile529=)
|
rs765251957
|
0.00002
|
NM_207122.2(EXT2):c.1642G>A (p.Glu548Lys)
|
rs1804679
|
0.00002
|
NM_207122.2(EXT2):c.2018+17C>T
|
rs375554352
|
0.00002
|
NM_207122.2(EXT2):c.743+10A>C
|
rs762753229
|
0.00002
|
NM_207122.2(EXT2):c.93C>T (p.Ser31=)
|
rs747830835
|
0.00002
|
NM_212482.4(FN1):c.2299+16C>T
|
rs201231230
|
0.00002
|
NM_212482.4(FN1):c.4143C>T (p.Pro1381=)
|
rs767010734
|
0.00002
|
NM_212482.4(FN1):c.4161C>A (p.Thr1387=)
|
rs370663743
|
0.00002
|
NM_212482.4(FN1):c.4719C>T (p.Tyr1573=)
|
rs147150819
|
0.00002
|
NM_212482.4(FN1):c.5511T>C (p.Asn1837=)
|
rs760293471
|
0.00002
|
NM_000081.4(LYST):c.2908A>C (p.Ile970Leu)
|
rs539146732
|
0.00001
|
NM_000088.4(COL1A1):c.3945C>T (p.Ser1315=)
|
rs766059440
|
0.00001
|
NM_000089.4(COL1A2):c.1251+19dup
|
rs762359173
|
0.00001
|
NM_000089.4(COL1A2):c.1447G>A (p.Ala483Thr)
|
rs960325497
|
0.00001
|
NM_000089.4(COL1A2):c.81+8A>C
|
rs765118884
|
0.00001
|
NM_000090.4(COL3A1):c.219C>T (p.Asp73=)
|
rs886038228
|
0.00001
|
NM_000090.4(COL3A1):c.706C>T (p.Pro236Ser)
|
rs771858477
|
0.00001
|
NM_000093.5(COL5A1):c.1719+10T>C
|
rs202231659
|
0.00001
|
NM_000093.5(COL5A1):c.1881+13C>T
|
rs753635328
|
0.00001
|
NM_000093.5(COL5A1):c.233C>T (p.Thr78Ile)
|
rs555131723
|
0.00001
|
NM_000093.5(COL5A1):c.2883A>G (p.Gly961=)
|
rs1244102860
|
0.00001
|
NM_000112.4(SLC26A2):c.1647A>G (p.Pro549=)
|
rs200694484
|
0.00001
|
NM_000127.3(EXT1):c.1014T>G (p.Arg338=)
|
rs750458103
|
0.00001
|
NM_000127.3(EXT1):c.1164+8A>G
|
rs765877825
|
0.00001
|
NM_000127.3(EXT1):c.123C>T (p.Ser41=)
|
rs1186563531
|
0.00001
|
NM_000127.3(EXT1):c.1266T>A (p.Ile422=)
|
rs899395870
|
0.00001
|
NM_000127.3(EXT1):c.1284+19C>T
|
rs774601928
|
0.00001
|
NM_000127.3(EXT1):c.1354T>C (p.Leu452=)
|
rs1372000855
|
0.00001
|
NM_000127.3(EXT1):c.1467C>G (p.Pro489=)
|
rs747800473
|
0.00001
|
NM_000127.3(EXT1):c.1545T>A (p.Val515=)
|
rs200372337
|
0.00001
|
NM_000127.3(EXT1):c.1704G>A (p.Thr568=)
|
rs146389596
|
0.00001
|
NM_000127.3(EXT1):c.1740A>G (p.Thr580=)
|
rs1340368285
|
0.00001
|
NM_000127.3(EXT1):c.1758T>C (p.Pro586=)
|
rs771063505
|
0.00001
|
NM_000127.3(EXT1):c.1839G>A (p.Thr613=)
|
rs765677175
|
0.00001
|
NM_000127.3(EXT1):c.1920C>T (p.Ala640=)
|
rs1480072354
|
0.00001
|
NM_000127.3(EXT1):c.2010C>T (p.Ile670=)
|
rs745677100
|
0.00001
|
NM_000127.3(EXT1):c.2055+17C>T
|
rs1295508874
|
0.00001
|
NM_000127.3(EXT1):c.2055+7A>C
|
rs889836376
|
0.00001
|
NM_000127.3(EXT1):c.2121G>A (p.Thr707=)
|
rs746184779
|
0.00001
|
NM_000127.3(EXT1):c.2199C>G (p.Val733=)
|
rs201230140
|
0.00001
|
NM_000127.3(EXT1):c.303G>A (p.Glu101=)
|
rs893833607
|
0.00001
|
NM_000127.3(EXT1):c.405A>G (p.Leu135=)
|
rs1401060657
|
0.00001
|
NM_000127.3(EXT1):c.69C>T (p.Phe23=)
|
rs200276819
|
0.00001
|
NM_000138.5(FBN1):c.*1437G>A
|
rs549498511
|
0.00001
|
NM_000138.5(FBN1):c.1026C>T (p.Asn342=)
|
rs769282306
|
0.00001
|
NM_000138.5(FBN1):c.1086C>T (p.Ala362=)
|
rs1338617046
|
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.1131T>C (p.Cys377=)
|
rs769211348
|
0.00001
|
NM_000138.5(FBN1):c.1147+16G>A
|
rs780632581
|
0.00001
|
NM_000138.5(FBN1):c.1167C>T (p.Cys389=)
|
rs746201757
|
0.00001
|
NM_000138.5(FBN1):c.1169C>T (p.Ser390Phe)
|
rs746385384
|
0.00001
|
NM_000138.5(FBN1):c.1215C>A (p.Pro405=)
|
rs1213208601
|
0.00001
|
NM_000138.5(FBN1):c.1235T>A (p.Val412Asp)
|
rs764925097
|
0.00001
|
NM_000138.5(FBN1):c.1289C>T (p.Pro430Leu)
|
rs771134832
|
0.00001
|
NM_000138.5(FBN1):c.1344C>T (p.Asn448=)
|
rs1281826850
|
0.00001
|
NM_000138.5(FBN1):c.1368C>G (p.Val456=)
|
rs1433264110
|
0.00001
|
NM_000138.5(FBN1):c.1373A>G (p.Tyr458Cys)
|
rs749133312
|
0.00001
|
NM_000138.5(FBN1):c.1407T>G (p.Pro469=)
|
rs1016146856
|
0.00001
|
NM_000138.5(FBN1):c.1494C>T (p.Pro498=)
|
rs765595961
|
0.00001
|
NM_000138.5(FBN1):c.1533C>T (p.Tyr511=)
|
rs1060504146
|
0.00001
|
NM_000138.5(FBN1):c.1572G>A (p.Thr524=)
|
rs1232119767
|
0.00001
|
NM_000138.5(FBN1):c.15T>C (p.Arg5=)
|
rs1371787168
|
0.00001
|
NM_000138.5(FBN1):c.1603T>A (p.Leu535Ile)
|
rs1485432119
|
0.00001
|
NM_000138.5(FBN1):c.1605A>G (p.Leu535=)
|
rs778013543
|
0.00001
|
NM_000138.5(FBN1):c.1639A>G (p.Ile547Val)
|
rs759813328
|
0.00001
|
NM_000138.5(FBN1):c.164+12G>A
|
rs571164659
|
0.00001
|
NM_000138.5(FBN1):c.164+18C>T
|
rs772382145
|
0.00001
|
NM_000138.5(FBN1):c.1647A>T (p.Thr549=)
|
rs2043746264
|
0.00001
|
NM_000138.5(FBN1):c.165-13G>A
|
rs985235880
|
0.00001
|
NM_000138.5(FBN1):c.165-7G>A
|
rs397515761
|
0.00001
|
NM_000138.5(FBN1):c.165-9T>C
|
rs758117122
|
0.00001
|
NM_000138.5(FBN1):c.1653C>T (p.Gly551=)
|
rs766565738
|
0.00001
|
NM_000138.5(FBN1):c.1694G>A (p.Arg565Gln)
|
rs763815231
|
0.00001
|
NM_000138.5(FBN1):c.1714+10G>A
|
rs760474361
|
0.00001
|
NM_000138.5(FBN1):c.1715-12T>C
|
rs1057521270
|
0.00001
|
NM_000138.5(FBN1):c.1715-14T>G
|
rs753746089
|
0.00001
|
NM_000138.5(FBN1):c.1731C>T (p.Ser577=)
|
rs1453708754
|
0.00001
|
NM_000138.5(FBN1):c.174C>A (p.Val58=)
|
rs369096927
|
0.00001
|
NM_000138.5(FBN1):c.1776C>G (p.Gly592=)
|
rs759191650
|
0.00001
|
NM_000138.5(FBN1):c.1779T>C (p.Ser593=)
|
rs372195702
|
0.00001
|
NM_000138.5(FBN1):c.1837+10A>G
|
rs2043731034
|
0.00001
|
NM_000138.5(FBN1):c.1837+9T>C
|
rs56102085
|
0.00001
|
NM_000138.5(FBN1):c.1838-7G>A
|
rs772849691
|
0.00001
|
NM_000138.5(FBN1):c.1845C>T (p.Asn615=)
|
rs932735615
|
0.00001
|
NM_000138.5(FBN1):c.1856C>A (p.Thr619Asn)
|
rs377686210
|
0.00001
|
NM_000138.5(FBN1):c.1858C>T (p.Pro620Ser)
|
rs1220853793
|
0.00001
|
NM_000138.5(FBN1):c.1960+17G>A
|
rs749990136
|
0.00001
|
NM_000138.5(FBN1):c.2020T>C (p.Leu674=)
|
rs753453348
|
0.00001
|
NM_000138.5(FBN1):c.2058C>A (p.Ala686=)
|
rs759859967
|
0.00001
|
NM_000138.5(FBN1):c.207T>C (p.Pro69=)
|
rs771057822
|
0.00001
|
NM_000138.5(FBN1):c.2082A>G (p.Glu694=)
|
rs773288488
|
0.00001
|
NM_000138.5(FBN1):c.2090A>G (p.Gln697Arg)
|
rs769708437
|
0.00001
|
NM_000138.5(FBN1):c.2113+13A>G
|
rs755529582
|
0.00001
|
NM_000138.5(FBN1):c.2113+17A>G
|
rs1246446564
|
0.00001
|
NM_000138.5(FBN1):c.2113+19A>T
|
rs541501178
|
0.00001
|
NM_000138.5(FBN1):c.2113+8G>A
|
rs763708195
|
0.00001
|
NM_000138.5(FBN1):c.2127A>C (p.Ala709=)
|
rs886038990
|
0.00001
|
NM_000138.5(FBN1):c.2228G>A (p.Arg743His)
|
rs761942436
|
0.00001
|
NM_000138.5(FBN1):c.2253T>C (p.Asn751=)
|
rs1566912218
|
0.00001
|
NM_000138.5(FBN1):c.2293+16C>G
|
rs772889439
|
0.00001
|
NM_000138.5(FBN1):c.2294-19A>C
|
rs1353634853
|
0.00001
|
NM_000138.5(FBN1):c.2349T>C (p.Asn783=)
|
rs1057522903
|
0.00001
|
NM_000138.5(FBN1):c.2393A>G (p.Tyr798Cys)
|
rs1064793112
|
0.00001
|
NM_000138.5(FBN1):c.2406A>G (p.Leu802=)
|
rs1490836069
|
0.00001
|
NM_000138.5(FBN1):c.2433C>T (p.Cys811=)
|
rs193921256
|
0.00001
|
NM_000138.5(FBN1):c.2531T>C (p.Ile844Thr)
|
rs751564716
|
0.00001
|
NM_000138.5(FBN1):c.2540-7T>C
|
rs749692510
|
0.00001
|
NM_000138.5(FBN1):c.2568T>G (p.Thr856=)
|
rs781607814
|
0.00001
|
NM_000138.5(FBN1):c.2577T>C (p.Asp859=)
|
rs779997664
|
0.00001
|
NM_000138.5(FBN1):c.2598C>T (p.Ile866=)
|
rs752457534
|
0.00001
|
NM_000138.5(FBN1):c.261T>C (p.His87=)
|
rs775220887
|
0.00001
|
NM_000138.5(FBN1):c.2628C>T (p.Cys876=)
|
rs112085967
|
0.00001
|
NM_000138.5(FBN1):c.2634C>T (p.Ser878=)
|
rs770395971
|
0.00001
|
NM_000138.5(FBN1):c.2640T>G (p.Gly880=)
|
rs1597568836
|
0.00001
|
NM_000138.5(FBN1):c.2683A>G (p.Ile895Val)
|
rs772308703
|
0.00001
|
NM_000138.5(FBN1):c.2711A>G (p.Lys904Arg)
|
rs778951277
|
0.00001
|
NM_000138.5(FBN1):c.2748G>A (p.Val916=)
|
rs1339922695
|
0.00001
|
NM_000138.5(FBN1):c.2771G>T (p.Gly924Val)
|
rs1206476337
|
0.00001
|
NM_000138.5(FBN1):c.2855-4A>G
|
rs769851513
|
0.00001
|
NM_000138.5(FBN1):c.285G>A (p.Ser95=)
|
rs745596276
|
0.00001
|
NM_000138.5(FBN1):c.2883G>A (p.Arg961=)
|
rs142964120
|
0.00001
|
NM_000138.5(FBN1):c.2886C>T (p.Tyr962=)
|
rs772108557
|
0.00001
|
NM_000138.5(FBN1):c.2979C>T (p.Cys993=)
|
rs150126098
|
0.00001
|
NM_000138.5(FBN1):c.2991C>A (p.Pro997=)
|
rs1225275544
|
0.00001
|
NM_000138.5(FBN1):c.3021G>A (p.Leu1007=)
|
rs764203356
|
0.00001
|
NM_000138.5(FBN1):c.3036C>T (p.Pro1012=)
|
rs766194667
|
0.00001
|
NM_000138.5(FBN1):c.3089A>G (p.Asn1030Ser)
|
rs375996640
|
0.00001
|
NM_000138.5(FBN1):c.3128A>G (p.Lys1043Arg)
|
rs137854472
|
0.00001
|
NM_000138.5(FBN1):c.3209-6G>A
|
rs942309418
|
0.00001
|
NM_000138.5(FBN1):c.3209-9T>C
|
rs1188743312
|
0.00001
|
NM_000138.5(FBN1):c.3255G>A (p.Gln1085=)
|
rs767088495
|
0.00001
|
NM_000138.5(FBN1):c.3330C>T (p.Asn1110=)
|
rs374584763
|
0.00001
|
NM_000138.5(FBN1):c.3337+20A>G
|
rs757193641
|
0.00001
|
NM_000138.5(FBN1):c.3348G>A (p.Glu1116=)
|
rs1183230087
|
0.00001
|
NM_000138.5(FBN1):c.3369A>G (p.Leu1123=)
|
rs1245413946
|
0.00001
|
NM_000138.5(FBN1):c.3464-19C>G
|
rs928322808
|
0.00001
|
NM_000138.5(FBN1):c.347-19C>A
|
rs755487996
|
0.00001
|
NM_000138.5(FBN1):c.3522C>T (p.Leu1174=)
|
rs778312047
|
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.3570C>T (p.Pro1190=)
|
rs188317014
|
0.00001
|
NM_000138.5(FBN1):c.3571G>A (p.Asp1191Asn)
|
rs370121450
|
0.00001
|
NM_000138.5(FBN1):c.3654C>T (p.Ser1218=)
|
rs760712674
|
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.3693T>C (p.Pro1231=)
|
rs1364910158
|
0.00001
|
NM_000138.5(FBN1):c.3713-5T>C
|
rs1412125032
|
0.00001
|
NM_000138.5(FBN1):c.3717C>T (p.Ile1239=)
|
rs759387957
|
0.00001
|
NM_000138.5(FBN1):c.3740A>T (p.Asn1247Ile)
|
rs568625812
|
0.00001
|
NM_000138.5(FBN1):c.3762C>T (p.Cys1254=)
|
rs1555398286
|
0.00001
|
NM_000138.5(FBN1):c.3797A>T (p.Tyr1266Phe)
|
rs200283837
|
0.00001
|
NM_000138.5(FBN1):c.3834T>C (p.Cys1278=)
|
rs886039492
|
0.00001
|
NM_000138.5(FBN1):c.3845A>G (p.Asn1282Ser)
|
rs140647
|
0.00001
|
NM_000138.5(FBN1):c.3897G>A (p.Thr1299=)
|
rs771283158
|
0.00001
|
NM_000138.5(FBN1):c.393C>T (p.Asp131=)
|
rs549054625
|
0.00001
|
NM_000138.5(FBN1):c.4056C>T (p.Pro1352=)
|
rs766969494
|
0.00001
|
NM_000138.5(FBN1):c.4059G>T (p.Gly1353=)
|
rs886038250
|
0.00001
|
NM_000138.5(FBN1):c.4075A>G (p.Ile1359Val)
|
rs202192505
|
0.00001
|
NM_000138.5(FBN1):c.4089T>C (p.Asp1363=)
|
rs751099175
|
0.00001
|
NM_000138.5(FBN1):c.4106A>G (p.Asn1369Ser)
|
rs370923981
|
0.00001
|
NM_000138.5(FBN1):c.4161C>T (p.Tyr1387=)
|
rs1332403498
|
0.00001
|
NM_000138.5(FBN1):c.4170G>A (p.Leu1390=)
|
rs1229052328
|
0.00001
|
NM_000138.5(FBN1):c.4211-18G>A
|
rs532573637
|
0.00001
|
NM_000138.5(FBN1):c.4218T>C (p.Asp1406=)
|
rs759712586
|
0.00001
|
NM_000138.5(FBN1):c.4250A>G (p.Asn1417Ser)
|
rs768531262
|
0.00001
|
NM_000138.5(FBN1):c.4251T>C (p.Asn1417=)
|
rs1428390270
|
0.00001
|
NM_000138.5(FBN1):c.426G>A (p.Gly142=)
|
rs1391070461
|
0.00001
|
NM_000138.5(FBN1):c.4272A>G (p.Pro1424=)
|
rs1187173937
|
0.00001
|
NM_000138.5(FBN1):c.4313G>A (p.Ser1438Asn)
|
rs587782945
|
0.00001
|
NM_000138.5(FBN1):c.4320C>T (p.Asp1440=)
|
rs375157552
|
0.00001
|
NM_000138.5(FBN1):c.4336+10G>C
|
rs1475499953
|
0.00001
|
NM_000138.5(FBN1):c.4337-6C>G
|
rs1225924246
|
0.00001
|
NM_000138.5(FBN1):c.4359G>A (p.Pro1453=)
|
rs748551052
|
0.00001
|
NM_000138.5(FBN1):c.4401G>T (p.Leu1467=)
|
rs747377334
|
0.00001
|
NM_000138.5(FBN1):c.442+17T>A
|
rs779385878
|
0.00001
|
NM_000138.5(FBN1):c.4428C>T (p.Tyr1476=)
|
rs767462642
|
0.00001
|
NM_000138.5(FBN1):c.4446C>T (p.Gly1482=)
|
rs772727859
|
0.00001
|
NM_000138.5(FBN1):c.4492A>G (p.Ile1498Val)
|
rs761187818
|
0.00001
|
NM_000138.5(FBN1):c.4527T>C (p.Tyr1509=)
|
rs776021250
|
0.00001
|
NM_000138.5(FBN1):c.4583-5A>C
|
rs778966916
|
0.00001
|
NM_000138.5(FBN1):c.465C>A (p.Leu155=)
|
rs1287033860
|
0.00001
|
NM_000138.5(FBN1):c.4695T>A (p.Ser1565=)
|
rs1891548285
|
0.00001
|
NM_000138.5(FBN1):c.4707C>G (p.Ala1569=)
|
rs397515813
|
0.00001
|
NM_000138.5(FBN1):c.4736C>T (p.Ala1579Val)
|
rs772009116
|
0.00001
|
NM_000138.5(FBN1):c.4747+7G>A
|
rs967122284
|
0.00001
|
NM_000138.5(FBN1):c.4748-9T>C
|
rs760640909
|
0.00001
|
NM_000138.5(FBN1):c.4817-10A>G
|
rs368644662
|
0.00001
|
NM_000138.5(FBN1):c.4824T>C (p.Asp1608=)
|
rs1057521341
|
0.00001
|
NM_000138.5(FBN1):c.4895G>A (p.Arg1632His)
|
rs756227025
|
0.00001
|
NM_000138.5(FBN1):c.4926T>C (p.Asp1642=)
|
rs140629
|
0.00001
|
NM_000138.5(FBN1):c.5007C>T (p.Asn1669=)
|
rs1267512714
|
0.00001
|
NM_000138.5(FBN1):c.5142G>A (p.Met1714Ile)
|
rs368287795
|
0.00001
|
NM_000138.5(FBN1):c.5184G>A (p.Ala1728=)
|
rs754660497
|
0.00001
|
NM_000138.5(FBN1):c.5225-19C>T
|
rs375761937
|
0.00001
|
NM_000138.5(FBN1):c.5225-7A>G
|
rs761196321
|
0.00001
|
NM_000138.5(FBN1):c.5268C>A (p.Val1756=)
|
rs764685311
|
0.00001
|
NM_000138.5(FBN1):c.5283C>T (p.Thr1761=)
|
rs373887214
|
0.00001
|
NM_000138.5(FBN1):c.5296+13G>A
|
rs781168268
|
0.00001
|
NM_000138.5(FBN1):c.5312G>A (p.Arg1771Gln)
|
rs759791896
|
0.00001
|
NM_000138.5(FBN1):c.5340A>C (p.Gly1780=)
|
rs766501385
|
0.00001
|
NM_000138.5(FBN1):c.5423-15C>A
|
rs1426894149
|
0.00001
|
NM_000138.5(FBN1):c.5430C>T (p.Asp1810=)
|
rs765338162
|
0.00001
|
NM_000138.5(FBN1):c.5441A>G (p.Asn1814Ser)
|
rs775463311
|
0.00001
|
NM_000138.5(FBN1):c.5481T>G (p.Thr1827=)
|
rs1261752884
|
0.00001
|
NM_000138.5(FBN1):c.5511C>T (p.Pro1837=)
|
rs372767912
|
0.00001
|
NM_000138.5(FBN1):c.5545+10G>C
|
rs1231571005
|
0.00001
|
NM_000138.5(FBN1):c.5546-4A>C
|
rs919423974
|
0.00001
|
NM_000138.5(FBN1):c.5585A>G (p.His1862Arg)
|
rs976161721
|
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.5671+11_5671+13dup
|
rs779987733
|
0.00001
|
NM_000138.5(FBN1):c.573C>T (p.Ser191=)
|
rs749627551
|
0.00001
|
NM_000138.5(FBN1):c.5753A>G (p.His1918Arg)
|
rs993464239
|
0.00001
|
NM_000138.5(FBN1):c.5805A>C (p.Ala1935=)
|
rs755825254
|
0.00001
|
NM_000138.5(FBN1):c.5817G>A (p.Gly1939=)
|
rs767097888
|
0.00001
|
NM_000138.5(FBN1):c.5876A>G (p.Asn1959Ser)
|
rs773486280
|
0.00001
|
NM_000138.5(FBN1):c.5991A>G (p.Arg1997=)
|
rs201346996
|
0.00001
|
NM_000138.5(FBN1):c.6025G>A (p.Glu2009Lys)
|
rs773204216
|
0.00001
|
NM_000138.5(FBN1):c.6038-18C>T
|
rs767567399
|
0.00001
|
NM_000138.5(FBN1):c.6099A>G (p.Glu2033=)
|
rs1397665480
|
0.00001
|
NM_000138.5(FBN1):c.6110A>G (p.Lys2037Arg)
|
rs556131403
|
0.00001
|
NM_000138.5(FBN1):c.6147T>C (p.Ser2049=)
|
rs553959381
|
0.00001
|
NM_000138.5(FBN1):c.6163+9C>G
|
rs547396976
|
0.00001
|
NM_000138.5(FBN1):c.6187G>A (p.Ala2063Thr)
|
rs1316593215
|
0.00001
|
NM_000138.5(FBN1):c.6231T>C (p.Asn2077=)
|
rs2043085335
|
0.00001
|
NM_000138.5(FBN1):c.6315G>A (p.Glu2105=)
|
rs1478813051
|
0.00001
|
NM_000138.5(FBN1):c.6336T>C (p.Pro2112=)
|
rs772876451
|
0.00001
|
NM_000138.5(FBN1):c.6379+17G>A
|
rs1432052846
|
0.00001
|
NM_000138.5(FBN1):c.6380-19T>A
|
rs764874493
|
0.00001
|
NM_000138.5(FBN1):c.639C>T (p.Val213=)
|
rs543984363
|
0.00001
|
NM_000138.5(FBN1):c.6402C>T (p.Pro2134=)
|
rs772439885
|
0.00001
|
NM_000138.5(FBN1):c.6417T>C (p.His2139=)
|
rs551162566
|
0.00001
|
NM_000138.5(FBN1):c.6438T>C (p.Asp2146=)
|
rs1398482166
|
0.00001
|
NM_000138.5(FBN1):c.643C>G (p.Arg215Gly)
|
rs111687884
|
0.00001
|
NM_000138.5(FBN1):c.6497-12G>C
|
rs369726558
|
0.00001
|
NM_000138.5(FBN1):c.654C>G (p.Gly218=)
|
rs375181377
|
0.00001
|
NM_000138.5(FBN1):c.6609A>G (p.Thr2203=)
|
rs547573220
|
0.00001
|
NM_000138.5(FBN1):c.6616+8T>A
|
rs371898247
|
0.00001
|
NM_000138.5(FBN1):c.6617-11C>A
|
rs932325724
|
0.00001
|
NM_000138.5(FBN1):c.6675T>C (p.Tyr2225=)
|
rs1260533788
|
0.00001
|
NM_000138.5(FBN1):c.6709G>A (p.Val2237Met)
|
rs764218640
|
0.00001
|
NM_000138.5(FBN1):c.6724C>T (p.Arg2242Cys)
|
rs779749926
|
0.00001
|
NM_000138.5(FBN1):c.6739+10C>T
|
rs1179540326
|
0.00001
|
NM_000138.5(FBN1):c.6768T>C (p.His2256=)
|
rs1047633779
|
0.00001
|
NM_000138.5(FBN1):c.6783A>C (p.Lys2261Asn)
|
rs771716423
|
0.00001
|
NM_000138.5(FBN1):c.6835G>A (p.Gly2279Arg)
|
rs759674700
|
0.00001
|
NM_000138.5(FBN1):c.6845G>A (p.Arg2282Gln)
|
rs759696323
|
0.00001
|
NM_000138.5(FBN1):c.6859G>C (p.Glu2287Gln)
|
rs551736585
|
0.00001
|
NM_000138.5(FBN1):c.6871+12C>A
|
rs770526904
|
0.00001
|
NM_000138.5(FBN1):c.6891G>A (p.Thr2297=)
|
rs764092264
|
0.00001
|
NM_000138.5(FBN1):c.6969C>T (p.Thr2323=)
|
rs773655866
|
0.00001
|
NM_000138.5(FBN1):c.7071C>T (p.Pro2357=)
|
rs397515843
|
0.00001
|
NM_000138.5(FBN1):c.7083G>A (p.Ser2361=)
|
rs1597517953
|
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.7196A>G (p.Asn2399Ser)
|
rs1428791574
|
0.00001
|
NM_000138.5(FBN1):c.7204+6T>G
|
rs534417939
|
0.00001
|
NM_000138.5(FBN1):c.7209C>T (p.Ile2403=)
|
rs767903343
|
0.00001
|
NM_000138.5(FBN1):c.7257C>T (p.Val2419=)
|
rs745715311
|
0.00001
|
NM_000138.5(FBN1):c.7272A>G (p.Ser2424=)
|
rs1259699671
|
0.00001
|
NM_000138.5(FBN1):c.7317G>C (p.Gly2439=)
|
rs766871786
|
0.00001
|
NM_000138.5(FBN1):c.7330+10T>G
|
rs375569743
|
0.00001
|
NM_000138.5(FBN1):c.7330+4A>G
|
rs750677373
|
0.00001
|
NM_000138.5(FBN1):c.7330+7G>A
|
rs765544479
|
0.00001
|
NM_000138.5(FBN1):c.7335G>T (p.Leu2445=)
|
rs754460527
|
0.00001
|
NM_000138.5(FBN1):c.736+10G>T
|
rs1183919688
|
0.00001
|
NM_000138.5(FBN1):c.736+8C>T
|
rs753703175
|
0.00001
|
NM_000138.5(FBN1):c.7413G>A (p.Pro2471=)
|
rs769588855
|
0.00001
|
NM_000138.5(FBN1):c.7521C>T (p.Phe2507=)
|
rs111895751
|
0.00001
|
NM_000138.5(FBN1):c.7529A>G (p.Lys2510Arg)
|
rs767602851
|
0.00001
|
NM_000138.5(FBN1):c.7539C>T (p.Pro2513=)
|
rs144713268
|
0.00001
|
NM_000138.5(FBN1):c.756C>T (p.Ala252=)
|
rs1398534692
|
0.00001
|
NM_000138.5(FBN1):c.7570+8G>A
|
rs1215672755
|
0.00001
|
NM_000138.5(FBN1):c.7570+9G>A
|
rs745370940
|
0.00001
|
NM_000138.5(FBN1):c.7571-7C>A
|
rs1229246967
|
0.00001
|
NM_000138.5(FBN1):c.7598A>G (p.Asn2533Ser)
|
rs111231879
|
0.00001
|
NM_000138.5(FBN1):c.759C>T (p.Ile253=)
|
rs1403909880
|
0.00001
|
NM_000138.5(FBN1):c.7602G>A (p.Leu2534=)
|
rs1392530685
|
0.00001
|
NM_000138.5(FBN1):c.7605C>T (p.Cys2535=)
|
rs113544411
|
0.00001
|
NM_000138.5(FBN1):c.7617C>T (p.Gly2539=)
|
rs1388794275
|
0.00001
|
NM_000138.5(FBN1):c.762C>T (p.Pro254=)
|
rs374318726
|
0.00001
|
NM_000138.5(FBN1):c.7632T>C (p.Thr2544=)
|
rs1409771185
|
0.00001
|
NM_000138.5(FBN1):c.7647C>T (p.Thr2549=)
|
rs1184032259
|
0.00001
|
NM_000138.5(FBN1):c.7700-20T>C
|
rs747269059
|
0.00001
|
NM_000138.5(FBN1):c.7707C>T (p.Asp2569=)
|
rs756093148
|
0.00001
|
NM_000138.5(FBN1):c.7773C>T (p.Ser2591=)
|
rs764526450
|
0.00001
|
NM_000138.5(FBN1):c.7819+9C>T
|
rs971180549
|
0.00001
|
NM_000138.5(FBN1):c.7836C>T (p.Leu2612=)
|
rs756689495
|
0.00001
|
NM_000138.5(FBN1):c.7839C>T (p.Ser2613=)
|
rs193922238
|
0.00001
|
NM_000138.5(FBN1):c.7848C>G (p.Ile2616Met)
|
rs138184493
|
0.00001
|
NM_000138.5(FBN1):c.7875C>T (p.Thr2625=)
|
rs1344417150
|
0.00001
|
NM_000138.5(FBN1):c.7929T>C (p.Ser2643=)
|
rs745524158
|
0.00001
|
NM_000138.5(FBN1):c.7968G>A (p.Gln2656=)
|
rs753203216
|
0.00001
|
NM_000138.5(FBN1):c.7971C>A (p.Ala2657=)
|
rs2042897134
|
0.00001
|
NM_000138.5(FBN1):c.7998C>T (p.Thr2666=)
|
rs1374170310
|
0.00001
|
NM_000138.5(FBN1):c.8026C>T (p.Pro2676Ser)
|
rs745650955
|
0.00001
|
NM_000138.5(FBN1):c.8049A>G (p.Gln2683=)
|
rs1208510012
|
0.00001
|
NM_000138.5(FBN1):c.8051+20G>T
|
rs781718760
|
0.00001
|
NM_000138.5(FBN1):c.8051+7A>G
|
rs755589553
|
0.00001
|
NM_000138.5(FBN1):c.8052-20A>G
|
rs939834412
|
0.00001
|
NM_000138.5(FBN1):c.8123A>G (p.Asn2708Ser)
|
rs759494825
|
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.8199A>T (p.Thr2733=)
|
rs1372383251
|
0.00001
|
NM_000138.5(FBN1):c.8223C>T (p.Ile2741=)
|
rs150065311
|
0.00001
|
NM_000138.5(FBN1):c.8227-3C>T
|
rs200822151
|
0.00001
|
NM_000138.5(FBN1):c.8287A>G (p.Ile2763Val)
|
rs775172479
|
0.00001
|
NM_000138.5(FBN1):c.8295T>A (p.Ala2765=)
|
rs1417594908
|
0.00001
|
NM_000138.5(FBN1):c.8364G>A (p.Thr2788=)
|
rs112945086
|
0.00001
|
NM_000138.5(FBN1):c.8449T>G (p.Phe2817Val)
|
rs148741353
|
0.00001
|
NM_000138.5(FBN1):c.8466A>G (p.Pro2822=)
|
rs147279938
|
0.00001
|
NM_000138.5(FBN1):c.8494A>G (p.Ser2832Gly)
|
rs376933421
|
0.00001
|
NM_000138.5(FBN1):c.8551A>G (p.Lys2851Glu)
|
rs371939796
|
0.00001
|
NM_000138.5(FBN1):c.855A>G (p.Lys285=)
|
rs1272913373
|
0.00001
|
NM_000138.5(FBN1):c.8598C>A (p.Ile2866=)
|
rs1566888537
|
0.00001
|
NM_000138.5(FBN1):c.876C>T (p.Cys292=)
|
rs1286340387
|
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.921A>C (p.Thr307=)
|
rs1341105449
|
0.00001
|
NM_000138.5(FBN1):c.963C>T (p.Thr321=)
|
rs767914958
|
0.00001
|
NM_000138.5(FBN1):c.969A>G (p.Pro323=)
|
rs759743242
|
0.00001
|
NM_000138.5(FBN1):c.988+17A>G
|
rs778476790
|
0.00001
|
NM_000138.5(FBN1):c.989-10T>C
|
rs774104217
|
0.00001
|
NM_000138.5(FBN1):c.989-18G>A
|
rs759275834
|
0.00001
|
NM_000142.5(FGFR3):c.1290C>T (p.Ser430=)
|
rs3135891
|
0.00001
|
NM_000222.3(KIT):c.531C>T (p.Arg177=)
|
rs756722358
|
0.00001
|
NM_000243.3(MEFV):c.1024C>T (p.Pro342Ser)
|
rs774397209
|
0.00001
|
NM_000243.3(MEFV):c.1056C>T (p.Cys352=)
|
rs104895164
|
0.00001
|
NM_000243.3(MEFV):c.1059C>T (p.Pro353=)
|
rs988793460
|
0.00001
|
NM_000243.3(MEFV):c.1062G>C (p.Arg354=)
|
rs1431507330
|
0.00001
|
NM_000243.3(MEFV):c.108G>A (p.Glu36=)
|
rs759877779
|
0.00001
|
NM_000243.3(MEFV):c.1091C>T (p.Pro364Leu)
|
rs104895214
|
0.00001
|
NM_000243.3(MEFV):c.1188C>T (p.Leu396=)
|
rs748967789
|
0.00001
|
NM_000243.3(MEFV):c.120C>T (p.Ile40=)
|
rs1454105754
|
0.00001
|
NM_000243.3(MEFV):c.1222C>T (p.Arg408Trp)
|
rs758868622
|
0.00001
|
NM_000243.3(MEFV):c.1260+18G>C
|
rs104895136
|
0.00001
|
NM_000243.3(MEFV):c.1261-13G>A
|
rs778114467
|
0.00001
|
NM_000243.3(MEFV):c.1261-14T>C
|
rs754322350
|
0.00001
|
NM_000243.3(MEFV):c.1356+11A>C
|
rs548648384
|
0.00001
|
NM_000243.3(MEFV):c.1371G>A (p.Ala457=)
|
rs761470030
|
0.00001
|
NM_000243.3(MEFV):c.1386G>A (p.Val462=)
|
rs768816084
|
0.00001
|
NM_000243.3(MEFV):c.1401G>A (p.Glu467=)
|
rs1398639205
|
0.00001
|
NM_000243.3(MEFV):c.1446C>G (p.Ala482=)
|
rs776820718
|
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.1508C>G (p.Ser503Cys)
|
rs190705322
|
0.00001
|
NM_000243.3(MEFV):c.1513G>T (p.Asp505Tyr)
|
rs150730718
|
0.00001
|
NM_000243.3(MEFV):c.1643C>A (p.Thr548Asn)
|
rs550970304
|
0.00001
|
NM_000243.3(MEFV):c.1650T>G (p.Pro550=)
|
rs1958910774
|
0.00001
|
NM_000243.3(MEFV):c.1681C>T (p.His561Tyr)
|
rs952604863
|
0.00001
|
NM_000243.3(MEFV):c.1727-16C>G
|
rs369343700
|
0.00001
|
NM_000243.3(MEFV):c.1727-7A>G
|
rs751312074
|
0.00001
|
NM_000243.3(MEFV):c.1744A>C (p.Met582Leu)
|
rs104895165
|
0.00001
|
NM_000243.3(MEFV):c.174C>A (p.Val58=)
|
rs1217681506
|
0.00001
|
NM_000243.3(MEFV):c.1760-87T>A
|
rs1958901256
|
0.00001
|
NM_000243.3(MEFV):c.1761T>C (p.Val587=)
|
rs1433601189
|
0.00001
|
NM_000243.3(MEFV):c.1780C>T (p.Gln594Ter)
|
rs780770024
|
0.00001
|
NM_000243.3(MEFV):c.1836C>T (p.Ile612=)
|
rs1379396776
|
0.00001
|
NM_000243.3(MEFV):c.1854G>A (p.Lys618=)
|
rs766576175
|
0.00001
|
NM_000243.3(MEFV):c.186G>A (p.Gly62=)
|
rs567615955
|
0.00001
|
NM_000243.3(MEFV):c.1899G>A (p.Pro633=)
|
rs776315170
|
0.00001
|
NM_000243.3(MEFV):c.2031A>G (p.Lys677=)
|
rs1280040143
|
0.00001
|
NM_000243.3(MEFV):c.2065T>C (p.Trp689Arg)
|
rs566082564
|
0.00001
|
NM_000243.3(MEFV):c.2166G>A (p.Val722=)
|
rs762351424
|
0.00001
|
NM_000243.3(MEFV):c.2169C>T (p.Asp723=)
|
rs104895117
|
0.00001
|
NM_000243.3(MEFV):c.2202G>A (p.Val734=)
|
rs956722067
|
0.00001
|
NM_000243.3(MEFV):c.2205A>G (p.Thr735=)
|
rs375450800
|
0.00001
|
NM_000243.3(MEFV):c.2214C>T (p.Ser738=)
|
rs1372111494
|
0.00001
|
NM_000243.3(MEFV):c.2259A>G (p.Gln753=)
|
rs104895174
|
0.00001
|
NM_000243.3(MEFV):c.2265C>T (p.Ile755=)
|
rs776137465
|
0.00001
|
NM_000243.3(MEFV):c.2310G>A (p.Leu770=)
|
rs1488237213
|
0.00001
|
NM_000243.3(MEFV):c.2314A>G (p.Ile772Val)
|
rs104895163
|
0.00001
|
NM_000243.3(MEFV):c.233A>G (p.Asn78Ser)
|
rs145015653
|
0.00001
|
NM_000243.3(MEFV):c.240C>T (p.Arg80=)
|
rs750467804
|
0.00001
|
NM_000243.3(MEFV):c.241C>T (p.Leu81=)
|
rs1159691741
|
0.00001
|
NM_000243.3(MEFV):c.249C>T (p.Ala83=)
|
rs141422964
|
0.00001
|
NM_000243.3(MEFV):c.277+11C>G
|
rs543272545
|
0.00001
|
NM_000243.3(MEFV):c.278-12T>C
|
rs1018265024
|
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.328C>T (p.Leu110=)
|
rs767274498
|
0.00001
|
NM_000243.3(MEFV):c.357G>A (p.Lys119=)
|
rs1000657059
|
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.48G>A (p.Leu16=)
|
rs777381107
|
0.00001
|
NM_000243.3(MEFV):c.490A>C (p.Lys164Gln)
|
rs1306636942
|
0.00001
|
NM_000243.3(MEFV):c.510C>T (p.Asp170=)
|
rs1234279922
|
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.561C>T (p.Ser187=)
|
rs910638883
|
0.00001
|
NM_000243.3(MEFV):c.566G>T (p.Gly189Val)
|
rs923516953
|
0.00001
|
NM_000243.3(MEFV):c.588G>A (p.Gly196=)
|
rs750968749
|
0.00001
|
NM_000243.3(MEFV):c.588G>C (p.Gly196=)
|
rs750968749
|
0.00001
|
NM_000243.3(MEFV):c.608T>C (p.Leu203Pro)
|
rs1959084389
|
0.00001
|
NM_000243.3(MEFV):c.612C>T (p.Arg204=)
|
rs1006819766
|
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.688G>A (p.Glu230Lys)
|
rs104895080
|
0.00001
|
NM_000243.3(MEFV):c.68A>G (p.Lys23Arg)
|
rs754679070
|
0.00001
|
NM_000243.3(MEFV):c.726C>T (p.Ser242=)
|
rs104895127
|
0.00001
|
NM_000243.3(MEFV):c.744T>C (p.Ser248=)
|
rs750362154
|
0.00001
|
NM_000243.3(MEFV):c.747A>G (p.Thr249=)
|
rs369527857
|
0.00001
|
NM_000243.3(MEFV):c.786T>C (p.Thr262=)
|
rs575521131
|
0.00001
|
NM_000243.3(MEFV):c.789A>G (p.Leu263=)
|
rs933330251
|
0.00001
|
NM_000243.3(MEFV):c.801A>G (p.Thr267=)
|
rs141455838
|
0.00001
|
NM_000243.3(MEFV):c.807G>C (p.Ala269=)
|
rs972290943
|
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.910+20A>G
|
rs1389451136
|
0.00001
|
NM_000243.3(MEFV):c.985C>T (p.Arg329Cys)
|
rs757216434
|
0.00001
|
NM_000302.4(PLOD1):c.1083C>T (p.Ala361=)
|
rs1159010003
|
0.00001
|
NM_000302.4(PLOD1):c.1097+10G>A
|
rs562510011
|
0.00001
|
NM_000302.4(PLOD1):c.117G>A (p.Glu39=)
|
rs779453447
|
0.00001
|
NM_000302.4(PLOD1):c.1202+14G>A
|
rs757830518
|
0.00001
|
NM_000302.4(PLOD1):c.1209C>T (p.Val403=)
|
rs1401528073
|
0.00001
|
NM_000302.4(PLOD1):c.1299C>T (p.Asp433=)
|
rs886039111
|
0.00001
|
NM_000302.4(PLOD1):c.1317G>A (p.Gln439=)
|
rs1334363341
|
0.00001
|
NM_000302.4(PLOD1):c.135G>A (p.Lys45=)
|
rs765354146
|
0.00001
|
NM_000302.4(PLOD1):c.1461C>T (p.Ile487=)
|
rs746099980
|
0.00001
|
NM_000302.4(PLOD1):c.1471-17G>A
|
rs373324035
|
0.00001
|
NM_000302.4(PLOD1):c.1471-6C>T
|
rs751904520
|
0.00001
|
NM_000302.4(PLOD1):c.1515G>A (p.Leu505=)
|
rs1034116707
|
0.00001
|
NM_000302.4(PLOD1):c.1530C>T (p.Ser510=)
|
rs1025133534
|
0.00001
|
NM_000302.4(PLOD1):c.1542C>T (p.Thr514=)
|
rs916626462
|
0.00001
|
NM_000302.4(PLOD1):c.1581C>T (p.Pro527=)
|
rs142934642
|
0.00001
|
NM_000302.4(PLOD1):c.1659G>A (p.Pro553=)
|
rs778242162
|
0.00001
|
NM_000302.4(PLOD1):c.169-6C>T
|
rs766073845
|
0.00001
|
NM_000302.4(PLOD1):c.1872G>A (p.Thr624=)
|
rs1026914936
|
0.00001
|
NM_000302.4(PLOD1):c.1887C>T (p.Pro629=)
|
rs1359830439
|
0.00001
|
NM_000302.4(PLOD1):c.1926C>T (p.Val642=)
|
rs763454814
|
0.00001
|
NM_000302.4(PLOD1):c.1998C>T (p.Ile666=)
|
rs748080300
|
0.00001
|
NM_000302.4(PLOD1):c.2160C>T (p.Ile720=)
|
rs140513387
|
0.00001
|
NM_000302.4(PLOD1):c.2172C>T (p.Phe724=)
|
rs1255270684
|
0.00001
|
NM_000302.4(PLOD1):c.2175C>T (p.Val725=)
|
rs768818916
|
0.00001
|
NM_000302.4(PLOD1):c.246G>A (p.Lys82=)
|
rs1258534388
|
0.00001
|
NM_000302.4(PLOD1):c.303-7G>A
|
rs1428437805
|
0.00001
|
NM_000302.4(PLOD1):c.309C>T (p.Asp103=)
|
rs750096749
|
0.00001
|
NM_000302.4(PLOD1):c.354G>C (p.Arg118=)
|
rs746072884
|
0.00001
|
NM_000302.4(PLOD1):c.498A>G (p.Lys166=)
|
rs1290621264
|
0.00001
|
NM_000302.4(PLOD1):c.54G>A (p.Ala18=)
|
rs1266038179
|
0.00001
|
NM_000302.4(PLOD1):c.562T>C (p.Leu188=)
|
rs967684441
|
0.00001
|
NM_000302.4(PLOD1):c.643+13C>A
|
rs1297071034
|
0.00001
|
NM_000302.4(PLOD1):c.643+8G>T
|
rs768848010
|
0.00001
|
NM_000302.4(PLOD1):c.644-16G>A
|
rs778818723
|
0.00001
|
NM_000302.4(PLOD1):c.651C>T (p.Val217=)
|
rs759435283
|
0.00001
|
NM_000302.4(PLOD1):c.741+7G>A
|
rs751215041
|
0.00001
|
NM_000302.4(PLOD1):c.742-9C>G
|
rs771746998
|
0.00001
|
NM_000302.4(PLOD1):c.789C>T (p.Phe263=)
|
rs908800499
|
0.00001
|
NM_000302.4(PLOD1):c.844-16G>A
|
rs565657931
|
0.00001
|
NM_000302.4(PLOD1):c.846T>C (p.Asp282=)
|
rs755620088
|
0.00001
|
NM_000302.4(PLOD1):c.873C>T (p.Gly291=)
|
rs1391173198
|
0.00001
|
NM_000302.4(PLOD1):c.894G>A (p.Thr298=)
|
rs763229200
|
0.00001
|
NM_000302.4(PLOD1):c.948A>G (p.Lys316=)
|
rs746354303
|
0.00001
|
NM_000302.4(PLOD1):c.951C>T (p.His317=)
|
rs770032875
|
0.00001
|
NM_000316.3(PTH1R):c.*7G>A
|
rs199649688
|
0.00001
|
NM_000388.4(CASR):c.1452C>T (p.Asp484=)
|
rs776775141
|
0.00001
|
NM_000388.4(CASR):c.1887T>C (p.Phe629=)
|
rs750220557
|
0.00001
|
NM_000388.4(CASR):c.2046G>A (p.Pro682=)
|
rs760450976
|
0.00001
|
NM_000388.4(CASR):c.2139C>T (p.Ser713=)
|
rs200384325
|
0.00001
|
NM_000388.4(CASR):c.2994G>A (p.Leu998=)
|
rs200260696
|
0.00001
|
NM_000388.4(CASR):c.3018G>A (p.Thr1006=)
|
rs748637478
|
0.00001
|
NM_000388.4(CASR):c.537A>G (p.Gln179=)
|
rs200129212
|
0.00001
|
NM_000388.4(CASR):c.738C>T (p.Tyr246=)
|
rs895337411
|
0.00001
|
NM_000388.4(CASR):c.813C>A (p.Ser271=)
|
rs759939185
|
0.00001
|
NM_000393.5(COL5A2):c.2554-5T>C
|
rs373495598
|
0.00001
|
NM_000431.4(MVK):c.1005C>T (p.Gly335=)
|
rs104895357
|
0.00001
|
NM_000431.4(MVK):c.1040-4G>A
|
rs748756524
|
0.00001
|
NM_000431.4(MVK):c.1116C>T (p.Ile372=)
|
rs368066027
|
0.00001
|
NM_000431.4(MVK):c.1125C>T (p.Pro375=)
|
rs943435428
|
0.00001
|
NM_000431.4(MVK):c.1134C>T (p.Ser378=)
|
rs1885921145
|
0.00001
|
NM_000431.4(MVK):c.1188C>T (p.Leu396=)
|
rs1885924156
|
0.00001
|
NM_000431.4(MVK):c.132C>T (p.His44=)
|
rs916712126
|
0.00001
|
NM_000431.4(MVK):c.18A>G (p.Leu6=)
|
rs1474470230
|
0.00001
|
NM_000431.4(MVK):c.19C>T (p.Leu7=)
|
rs1166007579
|
0.00001
|
NM_000431.4(MVK):c.210G>T (p.Leu70=)
|
rs199811011
|
0.00001
|
NM_000431.4(MVK):c.216A>G (p.Thr72=)
|
rs758432894
|
0.00001
|
NM_000431.4(MVK):c.371+12G>A
|
rs1322575575
|
0.00001
|
NM_000431.4(MVK):c.371+14C>G
|
rs1885142481
|
0.00001
|
NM_000431.4(MVK):c.371+9G>A
|
rs551460898
|
0.00001
|
NM_000431.4(MVK):c.423G>A (p.Ala141=)
|
rs756068705
|
0.00001
|
NM_000431.4(MVK):c.438C>T (p.Ser146=)
|
rs777499296
|
0.00001
|
NM_000431.4(MVK):c.483C>T (p.Cys161=)
|
rs777886684
|
0.00001
|
NM_000431.4(MVK):c.512G>A (p.Gly171Glu)
|
rs753599820
|
0.00001
|
NM_000431.4(MVK):c.519C>T (p.Cys173=)
|
rs554487221
|
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.603C>T (p.Ser201=)
|
rs775935897
|
0.00001
|
NM_000431.4(MVK):c.624C>T (p.Ser208=)
|
rs879254114
|
0.00001
|
NM_000431.4(MVK):c.729C>G (p.Thr243=)
|
rs755230199
|
0.00001
|
NM_000431.4(MVK):c.819G>A (p.Leu273=)
|
rs876661134
|
0.00001
|
NM_000431.4(MVK):c.921C>T (p.Ala307=)
|
rs201799491
|
0.00001
|
NM_000431.4(MVK):c.945G>A (p.Leu315=)
|
rs752469036
|
0.00001
|
NM_000435.3(NOTCH3):c.4974C>T (p.Leu1658=)
|
rs749616364
|
0.00001
|
NM_000516.7(GNAS):c.111C>T (p.Tyr37=)
|
rs749235261
|
0.00001
|
NM_000516.7(GNAS):c.136C>T (p.Leu46=)
|
rs775009418
|
0.00001
|
NM_000516.7(GNAS):c.258-7A>C
|
rs1183884518
|
0.00001
|
NM_000516.7(GNAS):c.660-15C>A
|
rs755766644
|
0.00001
|
NM_000516.7(GNAS):c.738C>T (p.Phe246=)
|
rs772094317
|
0.00001
|
NM_000628.5(IL10RB):c.132T>A (p.Ala44=)
|
rs1989014876
|
0.00001
|
NM_000628.5(IL10RB):c.174-18A>G
|
rs779105633
|
0.00001
|
NM_000628.5(IL10RB):c.207T>C (p.Thr69=)
|
rs968662142
|
0.00001
|
NM_000628.5(IL10RB):c.259T>C (p.Leu87=)
|
rs201664974
|
0.00001
|
NM_000628.5(IL10RB):c.27G>C (p.Leu9=)
|
rs1413979253
|
0.00001
|
NM_000628.5(IL10RB):c.420C>T (p.Tyr140=)
|
rs765588235
|
0.00001
|
NM_000628.5(IL10RB):c.647-14A>C
|
rs45526732
|
0.00001
|
NM_000628.5(IL10RB):c.657C>T (p.Pro219=)
|
rs1237354106
|
0.00001
|
NM_000628.5(IL10RB):c.681C>T (p.Leu227=)
|
rs766067976
|
0.00001
|
NM_000628.5(IL10RB):c.690G>A (p.Ser230=)
|
rs751559892
|
0.00001
|
NM_000628.5(IL10RB):c.966G>T (p.Gly322=)
|
rs780187887
|
0.00001
|
NM_001032283.3(TMPO):c.183G>A (p.Gly61=)
|
rs780119963
|
0.00001
|
NM_001032283.3(TMPO):c.219C>G (p.Pro73=)
|
rs1464689689
|
0.00001
|
NM_001032283.3(TMPO):c.228C>T (p.Val76=)
|
rs760772599
|
0.00001
|
NM_001032283.3(TMPO):c.238G>A (p.Gly80Arg)
|
rs780142223
|
0.00001
|
NM_001032283.3(TMPO):c.279+11G>C
|
rs772520813
|
0.00001
|
NM_001032283.3(TMPO):c.328C>T (p.Leu110=)
|
rs1302280025
|
0.00001
|
NM_001032283.3(TMPO):c.557A>G (p.Asn186Ser)
|
rs200923649
|
0.00001
|
NM_001032283.3(TMPO):c.565+1103C>T
|
rs188308994
|
0.00001
|
NM_001032283.3(TMPO):c.565+1346T>G
|
rs774747367
|
0.00001
|
NM_001032283.3(TMPO):c.565+1409C>T
|
rs371441559
|
0.00001
|
NM_001032283.3(TMPO):c.565+1468A>G
|
rs202106275
|
0.00001
|
NM_001032283.3(TMPO):c.565+1499A>G
|
rs776923796
|
0.00001
|
NM_001032283.3(TMPO):c.565+1532G>A
|
rs1336852045
|
0.00001
|
NM_001032283.3(TMPO):c.565+1559T>C
|
rs760459470
|
0.00001
|
NM_001032283.3(TMPO):c.565+1907A>G
|
rs372248802
|
0.00001
|
NM_001032283.3(TMPO):c.565+1979T>C
|
rs777452560
|
0.00001
|
NM_001032283.3(TMPO):c.565+1997G>A
|
rs375056835
|
0.00001
|
NM_001032283.3(TMPO):c.565+2081A>G
|
rs760171602
|
0.00001
|
NM_001032283.3(TMPO):c.565+2273G>A
|
rs977042843
|
0.00001
|
NM_001032283.3(TMPO):c.565+2399T>A
|
rs576517565
|
0.00001
|
NM_001032283.3(TMPO):c.565+8T>C
|
rs545742855
|
0.00001
|
NM_001032283.3(TMPO):c.72T>C (p.Asn24=)
|
rs201960762
|
0.00001
|
NM_001032283.3(TMPO):c.84G>A (p.Pro28=)
|
rs199549942
|
0.00001
|
NM_001042492.3(NF1):c.1062+7T>C
|
rs979521240
|
0.00001
|
NM_001042492.3(NF1):c.1185+7G>A
|
rs1322791959
|
0.00001
|
NM_001042492.3(NF1):c.1186-12C>G
|
rs1473811436
|
0.00001
|
NM_001042492.3(NF1):c.1356A>G (p.Gln452=)
|
rs1324833228
|
0.00001
|
NM_001042492.3(NF1):c.3198-4_3198-3dup
|
rs1555614809
|
0.00001
|
NM_001042492.3(NF1):c.3871-18A>G
|
rs748424913
|
0.00001
|
NM_001042492.3(NF1):c.4206C>T (p.Ile1402=)
|
rs864622406
|
0.00001
|
NM_001042492.3(NF1):c.4503C>T (p.Asp1501=)
|
rs577394398
|
0.00001
|
NM_001042492.3(NF1):c.4635C>T (p.Tyr1545=)
|
rs754023358
|
0.00001
|
NM_001042492.3(NF1):c.4860T>C (p.Gly1620=)
|
rs864622747
|
0.00001
|
NM_001042492.3(NF1):c.5269-19C>T
|
rs755620051
|
0.00001
|
NM_001042492.3(NF1):c.60+11C>T
|
rs565515877
|
0.00001
|
NM_001042492.3(NF1):c.6006+17A>G
|
rs748186225
|
0.00001
|
NM_001042492.3(NF1):c.6666G>A (p.Thr2222=)
|
rs780247942
|
0.00001
|
NM_001042492.3(NF1):c.6922-8T>C
|
rs191255643
|
0.00001
|
NM_001042492.3(NF1):c.7044C>T (p.Leu2348=)
|
rs1350755921
|
0.00001
|
NM_001042492.3(NF1):c.7092G>A (p.Arg2364=)
|
rs762081710
|
0.00001
|
NM_001042492.3(NF1):c.7332A>G (p.Thr2444=)
|
rs759005886
|
0.00001
|
NM_001042492.3(NF1):c.7533C>T (p.Val2511=)
|
rs760733171
|
0.00001
|
NM_001042492.3(NF1):c.7615+19T>C
|
rs773687866
|
0.00001
|
NM_001042492.3(NF1):c.7869+9T>C
|
rs940367528
|
0.00001
|
NM_001042492.3(NF1):c.7970+16T>G
|
rs967311672
|
0.00001
|
NM_001042492.3(NF1):c.8451C>T (p.Ser2817=)
|
rs547090599
|
0.00001
|
NM_001042492.3(NF1):c.889-6del
|
rs864622362
|
0.00001
|
NM_001065.4(TNFRSF1A):c.1005C>T (p.Pro335=)
|
rs1399868027
|
0.00001
|
NM_001065.4(TNFRSF1A):c.1008C>A (p.Asn336Lys)
|
rs745458338
|
0.00001
|
NM_001065.4(TNFRSF1A):c.1012C>T (p.Leu338Phe)
|
rs1251500082
|
0.00001
|
NM_001065.4(TNFRSF1A):c.1035C>T (p.Ala345=)
|
rs1323382829
|
0.00001
|
NM_001065.4(TNFRSF1A):c.1037A>G (p.His346Arg)
|
rs1399104304
|
0.00001
|
NM_001065.4(TNFRSF1A):c.1058-12G>A
|
rs776610155
|
0.00001
|
NM_001065.4(TNFRSF1A):c.1058-8C>G
|
rs764636915
|
0.00001
|
NM_001065.4(TNFRSF1A):c.12C>T (p.Ser4=)
|
rs199780452
|
0.00001
|
NM_001065.4(TNFRSF1A):c.1323T>C (p.Leu441=)
|
rs1565465505
|
0.00001
|
NM_001065.4(TNFRSF1A):c.1329C>A (p.Gly443=)
|
rs756455040
|
0.00001
|
NM_001065.4(TNFRSF1A):c.1363A>C (p.Arg455=)
|
rs1236501292
|
0.00001
|
NM_001065.4(TNFRSF1A):c.225G>A (p.Pro75=)
|
rs771721939
|
0.00001
|
NM_001065.4(TNFRSF1A):c.258C>T (p.Ser86=)
|
rs201798720
|
0.00001
|
NM_001065.4(TNFRSF1A):c.269C>T (p.Thr90Ile)
|
rs34751757
|
0.00001
|
NM_001065.4(TNFRSF1A):c.270C>T (p.Thr90=)
|
rs200837112
|
0.00001
|
NM_001065.4(TNFRSF1A):c.31C>T (p.Leu11=)
|
rs1195086731
|
0.00001
|
NM_001065.4(TNFRSF1A):c.384G>A (p.Arg128=)
|
rs747164054
|
0.00001
|
NM_001065.4(TNFRSF1A):c.414A>G (p.Glu138=)
|
rs201862823
|
0.00001
|
NM_001065.4(TNFRSF1A):c.473-17C>T
|
rs202031171
|
0.00001
|
NM_001065.4(TNFRSF1A):c.482A>G (p.Lys161Arg)
|
rs578112440
|
0.00001
|
NM_001065.4(TNFRSF1A):c.51G>A (p.Glu17=)
|
rs201015273
|
0.00001
|
NM_001065.4(TNFRSF1A):c.552-12C>A
|
rs1208890021
|
0.00001
|
NM_001065.4(TNFRSF1A):c.552-14G>A
|
rs200381667
|
0.00001
|
NM_001065.4(TNFRSF1A):c.570G>A (p.Glu190=)
|
rs772273430
|
0.00001
|
NM_001065.4(TNFRSF1A):c.696A>G (p.Leu232=)
|
rs1433705996
|
0.00001
|
NM_001065.4(TNFRSF1A):c.753G>A (p.Ser251=)
|
rs201358363
|
0.00001
|
NM_001065.4(TNFRSF1A):c.792T>C (p.Thr264=)
|
rs113540488
|
0.00001
|
NM_001110556.2(FLNA):c.1138G>A (p.Asp380Asn)
|
rs782090266
|
0.00001
|
NM_001110556.2(FLNA):c.1200G>T (p.Lys400Asn)
|
rs781879374
|
0.00001
|
NM_001110556.2(FLNA):c.3925G>A (p.Val1309Ile)
|
rs782412141
|
0.00001
|
NM_001111.5(ADAR):c.108C>T (p.Pro36=)
|
rs1571113155
|
0.00001
|
NM_001111.5(ADAR):c.1158C>T (p.Asn386=)
|
rs752276168
|
0.00001
|
NM_001111.5(ADAR):c.1266G>A (p.Arg422=)
|
rs1277143880
|
0.00001
|
NM_001111.5(ADAR):c.1407A>C (p.Ala469=)
|
rs747110415
|
0.00001
|
NM_001111.5(ADAR):c.1443C>T (p.Ser481=)
|
rs1175755853
|
0.00001
|
NM_001111.5(ADAR):c.15+16C>T
|
rs1353298437
|
0.00001
|
NM_001111.5(ADAR):c.15+20G>A
|
rs1269610582
|
0.00001
|
NM_001111.5(ADAR):c.1542C>T (p.Phe514=)
|
rs757137562
|
0.00001
|
NM_001111.5(ADAR):c.16-12C>G
|
rs202076652
|
0.00001
|
NM_001111.5(ADAR):c.16-8T>C
|
rs771755412
|
0.00001
|
NM_001111.5(ADAR):c.1602-4C>G
|
rs1308914614
|
0.00001
|
NM_001111.5(ADAR):c.1602-6G>A
|
rs773500380
|
0.00001
|
NM_001111.5(ADAR):c.1602-7C>T
|
rs763134303
|
0.00001
|
NM_001111.5(ADAR):c.171T>C (p.Ile57=)
|
rs1245796137
|
0.00001
|
NM_001111.5(ADAR):c.1806C>T (p.Pro602=)
|
rs757296904
|
0.00001
|
NM_001111.5(ADAR):c.186G>A (p.Pro62=)
|
rs1303196495
|
0.00001
|
NM_001111.5(ADAR):c.1890C>T (p.Cys630=)
|
rs558496566
|
0.00001
|
NM_001111.5(ADAR):c.2016C>T (p.Ala672=)
|
rs529646280
|
0.00001
|
NM_001111.5(ADAR):c.207A>G (p.Pro69=)
|
rs147331601
|
0.00001
|
NM_001111.5(ADAR):c.213C>T (p.Leu71=)
|
rs765015055
|
0.00001
|
NM_001111.5(ADAR):c.2247G>A (p.Gln749=)
|
rs1697530474
|
0.00001
|
NM_001111.5(ADAR):c.2307C>T (p.Phe769=)
|
rs978034540
|
0.00001
|
NM_001111.5(ADAR):c.2343G>A (p.Lys781=)
|
rs1004131934
|
0.00001
|
NM_001111.5(ADAR):c.2373C>A (p.Val791=)
|
rs770697736
|
0.00001
|
NM_001111.5(ADAR):c.2496+8C>T
|
rs770464278
|
0.00001
|
NM_001111.5(ADAR):c.2497-16C>T
|
rs749444156
|
0.00001
|
NM_001111.5(ADAR):c.2610C>T (p.Ala870=)
|
rs777928382
|
0.00001
|
NM_001111.5(ADAR):c.2659T>C (p.Leu887=)
|
rs759505132
|
0.00001
|
NM_001111.5(ADAR):c.2668+11C>T
|
rs768855853
|
0.00001
|
NM_001111.5(ADAR):c.2669-12A>T
|
rs1696978630
|
0.00001
|
NM_001111.5(ADAR):c.2669-9C>T
|
rs777184958
|
0.00001
|
NM_001111.5(ADAR):c.2762+18T>C
|
rs775859361
|
0.00001
|
NM_001111.5(ADAR):c.2769C>T (p.Leu923=)
|
rs368948193
|
0.00001
|
NM_001111.5(ADAR):c.2778G>A (p.Glu926=)
|
rs746643040
|
0.00001
|
NM_001111.5(ADAR):c.2787A>G (p.Lys929=)
|
rs1423566981
|
0.00001
|
NM_001111.5(ADAR):c.2885+11T>G
|
rs768277709
|
0.00001
|
NM_001111.5(ADAR):c.2886-12C>G
|
rs775018500
|
0.00001
|
NM_001111.5(ADAR):c.2886-13C>T
|
rs746596725
|
0.00001
|
NM_001111.5(ADAR):c.2886-20C>T
|
rs768222773
|
0.00001
|
NM_001111.5(ADAR):c.3019+12A>G
|
rs1272636666
|
0.00001
|
NM_001111.5(ADAR):c.3019+20G>A
|
rs541066272
|
0.00001
|
NM_001111.5(ADAR):c.3063G>A (p.Thr1021=)
|
rs766868552
|
0.00001
|
NM_001111.5(ADAR):c.30C>T (p.Ser10=)
|
rs769752403
|
0.00001
|
NM_001111.5(ADAR):c.3120C>T (p.Ile1040=)
|
rs771995348
|
0.00001
|
NM_001111.5(ADAR):c.3132C>T (p.Asn1044=)
|
rs771119857
|
0.00001
|
NM_001111.5(ADAR):c.3159G>A (p.Leu1053=)
|
rs1159544217
|
0.00001
|
NM_001111.5(ADAR):c.3195C>A (p.Val1065=)
|
rs766048826
|
0.00001
|
NM_001111.5(ADAR):c.3203-12T>C
|
rs1425028987
|
0.00001
|
NM_001111.5(ADAR):c.3316-4C>T
|
rs765304172
|
0.00001
|
NM_001111.5(ADAR):c.339A>C (p.Pro113=)
|
rs1233906249
|
0.00001
|
NM_001111.5(ADAR):c.33A>T (p.Gly11=)
|
rs780089358
|
0.00001
|
NM_001111.5(ADAR):c.3443+19G>A
|
rs200649075
|
0.00001
|
NM_001111.5(ADAR):c.3492A>G (p.Leu1164=)
|
rs1325974852
|
0.00001
|
NM_001111.5(ADAR):c.3515G>A (p.Arg1172His)
|
rs577255099
|
0.00001
|
NM_001111.5(ADAR):c.3531A>G (p.Leu1177=)
|
rs533561093
|
0.00001
|
NM_001111.5(ADAR):c.3576C>T (p.Tyr1192=)
|
rs768173047
|
0.00001
|
NM_001111.5(ADAR):c.474A>C (p.Ala158=)
|
rs1434133622
|
0.00001
|
NM_001111.5(ADAR):c.594G>A (p.Ala198=)
|
rs563756226
|
0.00001
|
NM_001111.5(ADAR):c.618G>A (p.Gln206=)
|
rs1012436976
|
0.00001
|
NM_001111.5(ADAR):c.735T>C (p.Phe245=)
|
rs758433223
|
0.00001
|
NM_001111.5(ADAR):c.780A>G (p.Val260=)
|
rs751940017
|
0.00001
|
NM_001111.5(ADAR):c.885C>T (p.Asp295=)
|
rs368050952
|
0.00001
|
NM_001111.5(ADAR):c.999G>A (p.Val333=)
|
rs781217449
|
0.00001
|
NM_001122681.2(SH3BP2):c.1056G>A (p.Val352=)
|
rs1257654174
|
0.00001
|
NM_001122681.2(SH3BP2):c.1125A>G (p.Gly375=)
|
rs770845820
|
0.00001
|
NM_001122681.2(SH3BP2):c.114T>C (p.Gly38=)
|
rs766841076
|
0.00001
|
NM_001122681.2(SH3BP2):c.1161G>A (p.Ala387=)
|
rs755103787
|
0.00001
|
NM_001122681.2(SH3BP2):c.1164G>A (p.Leu388=)
|
rs148233601
|
0.00001
|
NM_001122681.2(SH3BP2):c.1191G>A (p.Ala397=)
|
rs778524532
|
0.00001
|
NM_001122681.2(SH3BP2):c.1224G>A (p.Pro408=)
|
rs774621888
|
0.00001
|
NM_001122681.2(SH3BP2):c.1239C>T (p.Leu413=)
|
rs957454698
|
0.00001
|
NM_001122681.2(SH3BP2):c.137-7C>T
|
rs767584072
|
0.00001
|
NM_001122681.2(SH3BP2):c.1461C>T (p.Ile487=)
|
rs1278262490
|
0.00001
|
NM_001122681.2(SH3BP2):c.1485G>A (p.Gly495=)
|
rs546812362
|
0.00001
|
NM_001122681.2(SH3BP2):c.1489-10C>T
|
rs371550124
|
0.00001
|
NM_001122681.2(SH3BP2):c.1549-6C>G
|
rs1232849407
|
0.00001
|
NM_001122681.2(SH3BP2):c.1608G>A (p.Glu536=)
|
rs750263899
|
0.00001
|
NM_001122681.2(SH3BP2):c.1623C>T (p.His541=)
|
rs779748713
|
0.00001
|
NM_001122681.2(SH3BP2):c.1647G>A (p.Leu549=)
|
rs547700606
|
0.00001
|
NM_001122681.2(SH3BP2):c.1683G>A (p.Arg561=)
|
rs761772844
|
0.00001
|
NM_001122681.2(SH3BP2):c.174C>T (p.Val58=)
|
rs749816726
|
0.00001
|
NM_001122681.2(SH3BP2):c.225G>C (p.Leu75=)
|
rs142944605
|
0.00001
|
NM_001122681.2(SH3BP2):c.239+10C>T
|
rs780878297
|
0.00001
|
NM_001122681.2(SH3BP2):c.267G>A (p.Thr89=)
|
rs748371031
|
0.00001
|
NM_001122681.2(SH3BP2):c.333G>A (p.Ser111=)
|
rs554077647
|
0.00001
|
NM_001122681.2(SH3BP2):c.342C>T (p.Ser114=)
|
rs1135633
|
0.00001
|
NM_001122681.2(SH3BP2):c.357+20C>T
|
rs753112709
|
0.00001
|
NM_001122681.2(SH3BP2):c.358-12G>A
|
rs758622287
|
0.00001
|
NM_001122681.2(SH3BP2):c.358-13C>T
|
rs199799999
|
0.00001
|
NM_001122681.2(SH3BP2):c.428+9G>A
|
rs113416255
|
0.00001
|
NM_001122681.2(SH3BP2):c.477T>C (p.Pro159=)
|
rs1189514551
|
0.00001
|
NM_001122681.2(SH3BP2):c.517+9T>C
|
rs751876864
|
0.00001
|
NM_001122681.2(SH3BP2):c.518-19C>T
|
rs766907808
|
0.00001
|
NM_001122681.2(SH3BP2):c.531C>T (p.Asp177=)
|
rs143009181
|
0.00001
|
NM_001122681.2(SH3BP2):c.573C>T (p.Pro191=)
|
rs755387801
|
0.00001
|
NM_001122681.2(SH3BP2):c.633G>A (p.Thr211=)
|
rs201465814
|
0.00001
|
NM_001122681.2(SH3BP2):c.756G>A (p.Glu252=)
|
rs760531065
|
0.00001
|
NM_001122681.2(SH3BP2):c.765G>A (p.Lys255=)
|
rs1259759373
|
0.00001
|
NM_001122681.2(SH3BP2):c.78C>T (p.Gly26=)
|
rs770692755
|
0.00001
|
NM_001122681.2(SH3BP2):c.927C>T (p.Thr309=)
|
rs192098170
|
0.00001
|
NM_001122681.2(SH3BP2):c.96C>T (p.Tyr32=)
|
rs375419257
|
0.00001
|
NM_001128225.3(SLC39A13):c.1074G>A (p.Ala358=)
|
rs576702857
|
0.00001
|
NM_001171.6(ABCC6):c.1872C>T (p.Ala624=)
|
rs747341864
|
0.00001
|
NM_001171.6(ABCC6):c.2079G>A (p.Val693=)
|
rs189252048
|
0.00001
|
NM_001171.6(ABCC6):c.2085C>T (p.Tyr695=)
|
rs199913903
|
0.00001
|
NM_001171.6(ABCC6):c.2521C>T (p.Leu841=)
|
rs60990156
|
0.00001
|
NM_001171.6(ABCC6):c.3411C>G (p.Val1137=)
|
rs772396564
|
0.00001
|
NM_001171.6(ABCC6):c.3477G>A (p.Arg1159=)
|
rs746045818
|
0.00001
|
NM_001171.6(ABCC6):c.3507-14G>A
|
rs1006071217
|
0.00001
|
NM_001171.6(ABCC6):c.3735+10G>A
|
rs372710375
|
0.00001
|
NM_001171.6(ABCC6):c.3837G>A (p.Pro1279=)
|
rs61294695
|
0.00001
|
NM_001171.6(ABCC6):c.4476G>C (p.Leu1492=)
|
rs745761393
|
0.00001
|
NM_001199138.2(NLRC4):c.1224C>T (p.Phe408=)
|
rs761437489
|
0.00001
|
NM_001199138.2(NLRC4):c.1254G>A (p.Glu418=)
|
rs139416512
|
0.00001
|
NM_001199138.2(NLRC4):c.1272T>C (p.Thr424=)
|
rs553450270
|
0.00001
|
NM_001199138.2(NLRC4):c.1311A>G (p.Pro437=)
|
rs755272665
|
0.00001
|
NM_001199138.2(NLRC4):c.1386T>C (p.His462=)
|
rs1306350382
|
0.00001
|
NM_001199138.2(NLRC4):c.1902C>T (p.Ile634=)
|
rs894226138
|
0.00001
|
NM_001199138.2(NLRC4):c.2247A>G (p.Gln749=)
|
rs757751172
|
0.00001
|
NM_001199138.2(NLRC4):c.2351-9A>C
|
rs1170848768
|
0.00001
|
NM_001199138.2(NLRC4):c.2370G>C (p.Leu790=)
|
rs373493465
|
0.00001
|
NM_001199138.2(NLRC4):c.2522-4C>G
|
rs750669618
|
0.00001
|
NM_001199138.2(NLRC4):c.263-12C>G
|
rs1031162580
|
0.00001
|
NM_001199138.2(NLRC4):c.263-7C>G
|
rs754559711
|
0.00001
|
NM_001199138.2(NLRC4):c.297C>T (p.Asp99=)
|
rs199475952
|
0.00001
|
NM_001199138.2(NLRC4):c.549C>T (p.Ala183=)
|
rs1573494931
|
0.00001
|
NM_001199138.2(NLRC4):c.704T>C (p.Met235Thr)
|
rs770505969
|
0.00001
|
NM_001199138.2(NLRC4):c.753T>C (p.Asn251=)
|
rs183190749
|
0.00001
|
NM_001199138.2(NLRC4):c.837T>C (p.Thr279=)
|
rs772778654
|
0.00001
|
NM_001199138.2(NLRC4):c.909C>T (p.Asp303=)
|
rs761116100
|
0.00001
|
NM_001199138.2(NLRC4):c.945G>A (p.Lys315=)
|
rs746822837
|
0.00001
|
NM_001199138.2(NLRC4):c.999T>C (p.Asn333=)
|
rs746141257
|
0.00001
|
NM_001243133.2(NLRP3):c.114C>T (p.Pro38=)
|
rs959576319
|
0.00001
|
NM_001243133.2(NLRP3):c.1314C>T (p.Thr438=)
|
rs201210274
|
0.00001
|
NM_001243133.2(NLRP3):c.1356G>C (p.Arg452=)
|
rs1662744091
|
0.00001
|
NM_001243133.2(NLRP3):c.1365C>T (p.Ser455=)
|
rs777985232
|
0.00001
|
NM_001243133.2(NLRP3):c.146A>G (p.His49Arg)
|
rs367663649
|
0.00001
|
NM_001243133.2(NLRP3):c.1626G>A (p.Thr542=)
|
rs201031071
|
0.00001
|
NM_001243133.2(NLRP3):c.1650G>A (p.Lys550=)
|
rs748768461
|
0.00001
|
NM_001243133.2(NLRP3):c.1887C>T (p.Phe629=)
|
rs1572173453
|
0.00001
|
NM_001243133.2(NLRP3):c.1894T>C (p.Leu632=)
|
rs762299624
|
0.00001
|
NM_001243133.2(NLRP3):c.2034C>T (p.Ser678=)
|
rs763837523
|
0.00001
|
NM_001243133.2(NLRP3):c.2058C>T (p.Pro686=)
|
rs765198709
|
0.00001
|
NM_001243133.2(NLRP3):c.2148T>C (p.His716=)
|
rs199592175
|
0.00001
|
NM_001243133.2(NLRP3):c.2151-11C>T
|
rs201019209
|
0.00001
|
NM_001243133.2(NLRP3):c.2223A>T (p.Leu741=)
|
rs897028974
|
0.00001
|
NM_001243133.2(NLRP3):c.2321+12T>A
|
rs747043119
|
0.00001
|
NM_001243133.2(NLRP3):c.2321+16T>C
|
rs748309910
|
0.00001
|
NM_001243133.2(NLRP3):c.2331C>A (p.Arg777=)
|
rs372079153
|
0.00001
|
NM_001243133.2(NLRP3):c.2376C>T (p.Leu792=)
|
rs752671466
|
0.00001
|
NM_001243133.2(NLRP3):c.240C>T (p.Asp80=)
|
rs200214031
|
0.00001
|
NM_001243133.2(NLRP3):c.2492+12C>A
|
rs150907298
|
0.00001
|
NM_001243133.2(NLRP3):c.2492+13C>T
|
rs199746830
|
0.00001
|
NM_001243133.2(NLRP3):c.2492+8G>A
|
rs201453934
|
0.00001
|
NM_001243133.2(NLRP3):c.2571A>G (p.Arg857=)
|
rs1248156475
|
0.00001
|
NM_001243133.2(NLRP3):c.2663+17G>A
|
rs1177229751
|
0.00001
|
NM_001243133.2(NLRP3):c.2700A>C (p.Ser900=)
|
rs771112663
|
0.00001
|
NM_001243133.2(NLRP3):c.2766C>T (p.Leu922=)
|
rs200905637
|
0.00001
|
NM_001243133.2(NLRP3):c.2811C>T (p.Pro937=)
|
rs545121784
|
0.00001
|
NM_001243133.2(NLRP3):c.2819A>G (p.Lys940Arg)
|
rs201580005
|
0.00001
|
NM_001243133.2(NLRP3):c.2835-12C>T
|
rs1385960949
|
0.00001
|
NM_001243133.2(NLRP3):c.291A>G (p.Ala97=)
|
rs199475729
|
0.00001
|
NM_001243133.2(NLRP3):c.293G>A (p.Arg98His)
|
rs201887896
|
0.00001
|
NM_001243133.2(NLRP3):c.3005+11T>A
|
rs763587260
|
0.00001
|
NM_001243133.2(NLRP3):c.3005+9G>A
|
rs201490700
|
0.00001
|
NM_001243133.2(NLRP3):c.357G>A (p.Leu119=)
|
rs368050806
|
0.00001
|
NM_001243133.2(NLRP3):c.369G>A (p.Ser123=)
|
rs750104265
|
0.00001
|
NM_001243133.2(NLRP3):c.397+11G>T
|
rs373814715
|
0.00001
|
NM_001243133.2(NLRP3):c.579G>A (p.Thr193=)
|
rs149659331
|
0.00001
|
NM_001243133.2(NLRP3):c.591C>T (p.Pro197=)
|
rs3806267
|
0.00001
|
NM_001243133.2(NLRP3):c.618G>T (p.Leu206=)
|
rs201463849
|
0.00001
|
NM_001243133.2(NLRP3):c.628G>A (p.Asp210Asn)
|
rs372038150
|
0.00001
|
NM_001243133.2(NLRP3):c.636G>A (p.Glu212=)
|
rs145112948
|
0.00001
|
NM_001243133.2(NLRP3):c.696C>A (p.Ile232=)
|
rs746712429
|
0.00001
|
NM_001243133.2(NLRP3):c.774C>T (p.His258=)
|
rs1040816447
|
0.00001
|
NM_001243133.2(NLRP3):c.864C>T (p.Ile288=)
|
rs200900704
|
0.00001
|
NM_001243133.2(NLRP3):c.900C>T (p.Asp300=)
|
rs145826369
|
0.00001
|
NM_001243133.2(NLRP3):c.945G>A (p.Pro315=)
|
rs199961191
|
0.00001
|
NM_001270508.2(TNFAIP3):c.1710C>T (p.Leu570=)
|
rs542739083
|
0.00001
|
NM_001282225.2(ADA2):c.102G>A (p.Arg34=)
|
rs113192455
|
0.00001
|
NM_001282225.2(ADA2):c.105G>A (p.Ala35=)
|
rs764359666
|
0.00001
|
NM_001282225.2(ADA2):c.1068C>T (p.His356=)
|
rs199557749
|
0.00001
|
NM_001282225.2(ADA2):c.1081+11G>A
|
rs576842036
|
0.00001
|
NM_001282225.2(ADA2):c.1082-11C>T
|
rs745689865
|
0.00001
|
NM_001282225.2(ADA2):c.1082-4T>G
|
rs748309664
|
0.00001
|
NM_001282225.2(ADA2):c.1146C>T (p.Ile382=)
|
rs776302859
|
0.00001
|
NM_001282225.2(ADA2):c.1155A>T (p.Gly385=)
|
rs762051665
|
0.00001
|
NM_001282225.2(ADA2):c.1240-14C>G
|
rs746394863
|
0.00001
|
NM_001282225.2(ADA2):c.1240-6G>A
|
rs781688965
|
0.00001
|
NM_001282225.2(ADA2):c.1299G>A (p.Gly433=)
|
rs370907740
|
0.00001
|
NM_001282225.2(ADA2):c.1302C>T (p.His434=)
|
rs1036121313
|
0.00001
|
NM_001282225.2(ADA2):c.1368T>C (p.Tyr456=)
|
rs778672079
|
0.00001
|
NM_001282225.2(ADA2):c.1442+20C>G
|
rs1373238085
|
0.00001
|
NM_001282225.2(ADA2):c.1443-13C>T
|
rs2061969554
|
0.00001
|
NM_001282225.2(ADA2):c.405C>T (p.His135=)
|
rs1190168074
|
0.00001
|
NM_001282225.2(ADA2):c.615G>A (p.Ser205=)
|
rs373985143
|
0.00001
|
NM_001282225.2(ADA2):c.678C>T (p.Asp226=)
|
rs1337961073
|
0.00001
|
NM_001282225.2(ADA2):c.753+7C>T
|
rs762663812
|
0.00001
|
NM_001282225.2(ADA2):c.754-8C>T
|
rs1427052554
|
0.00001
|
NM_001282225.2(ADA2):c.864C>A (p.Ile288=)
|
rs1165460424
|
0.00001
|
NM_001282225.2(ADA2):c.873G>A (p.Ser291=)
|
rs750384809
|
0.00001
|
NM_001366385.1(CARD14):c.2025G>A (p.Ser675=)
|
rs778055809
|
0.00001
|
NM_001366385.1(CARD14):c.922C>T (p.Leu308=)
|
rs537507973
|
0.00001
|
NM_001370466.1(NOD2):c.1090C>T (p.Arg364Cys)
|
rs104895481
|
0.00001
|
NM_001370466.1(NOD2):c.1091G>A (p.Arg364His)
|
rs554887705
|
0.00001
|
NM_001370466.1(NOD2):c.1140C>T (p.Leu380=)
|
rs963957987
|
0.00001
|
NM_001370466.1(NOD2):c.1182G>A (p.Lys394=)
|
rs749142500
|
0.00001
|
NM_001370466.1(NOD2):c.1206T>C (p.Ala402=)
|
rs1205006732
|
0.00001
|
NM_001370466.1(NOD2):c.1230C>T (p.Tyr410=)
|
rs771979324
|
0.00001
|
NM_001370466.1(NOD2):c.1276G>A (p.Glu426Lys)
|
rs556728426
|
0.00001
|
NM_001370466.1(NOD2):c.1293G>A (p.Lys431=)
|
rs1430003119
|
0.00001
|
NM_001370466.1(NOD2):c.1299T>C (p.His433=)
|
rs1964479363
|
0.00001
|
NM_001370466.1(NOD2):c.1332C>T (p.Arg444=)
|
rs770712938
|
0.00001
|
NM_001370466.1(NOD2):c.1354C>T (p.Leu452=)
|
rs898706797
|
0.00001
|
NM_001370466.1(NOD2):c.1359C>T (p.His453=)
|
rs753323790
|
0.00001
|
NM_001370466.1(NOD2):c.1428G>A (p.Glu476=)
|
rs104895434
|
0.00001
|
NM_001370466.1(NOD2):c.1500C>G (p.Pro500=)
|
rs104895435
|
0.00001
|
NM_001370466.1(NOD2):c.1530C>T (p.Pro510=)
|
rs750399794
|
0.00001
|
NM_001370466.1(NOD2):c.1563G>A (p.Leu521=)
|
rs369085294
|
0.00001
|
NM_001370466.1(NOD2):c.1602C>T (p.Cys534=)
|
rs1248700534
|
0.00001
|
NM_001370466.1(NOD2):c.1677G>T (p.Val559=)
|
rs369719210
|
0.00001
|
NM_001370466.1(NOD2):c.1755G>A (p.Ala585=)
|
rs756626309
|
0.00001
|
NM_001370466.1(NOD2):c.1848C>T (p.Leu616=)
|
rs764199623
|
0.00001
|
NM_001370466.1(NOD2):c.1906C>T (p.Leu636=)
|
rs762922997
|
0.00001
|
NM_001370466.1(NOD2):c.1929C>T (p.Asn643=)
|
rs104895475
|
0.00001
|
NM_001370466.1(NOD2):c.2079C>T (p.His693=)
|
rs755568125
|
0.00001
|
NM_001370466.1(NOD2):c.2082C>T (p.Ser694=)
|
rs766123432
|
0.00001
|
NM_001370466.1(NOD2):c.2181G>A (p.Leu727=)
|
rs199475915
|
0.00001
|
NM_001370466.1(NOD2):c.2304G>C (p.Leu768=)
|
rs1164125645
|
0.00001
|
NM_001370466.1(NOD2):c.231C>T (p.Ile77=)
|
rs778843858
|
0.00001
|
NM_001370466.1(NOD2):c.2427T>C (p.Ile809=)
|
rs764369783
|
0.00001
|
NM_001370466.1(NOD2):c.2550-19C>G
|
rs545121947
|
0.00001
|
NM_001370466.1(NOD2):c.2619C>T (p.Ser873=)
|
rs759227592
|
0.00001
|
NM_001370466.1(NOD2):c.2721G>A (p.Leu907=)
|
rs149691662
|
0.00001
|
NM_001370466.1(NOD2):c.273G>A (p.Lys91=)
|
rs766071199
|
0.00001
|
NM_001370466.1(NOD2):c.2801+18T>C
|
rs986964282
|
0.00001
|
NM_001370466.1(NOD2):c.2931G>A (p.Leu977=)
|
rs773388366
|
0.00001
|
NM_001370466.1(NOD2):c.359G>A (p.Ser120Asn)
|
rs776403451
|
0.00001
|
NM_001370466.1(NOD2):c.42G>C (p.Leu14=)
|
rs1963825955
|
0.00001
|
NM_001370466.1(NOD2):c.438G>A (p.Pro146=)
|
rs77153279
|
0.00001
|
NM_001370466.1(NOD2):c.516T>C (p.Leu172=)
|
rs201115206
|
0.00001
|
NM_001370466.1(NOD2):c.519A>G (p.Leu173=)
|
rs778078737
|
0.00001
|
NM_001370466.1(NOD2):c.545C>T (p.Pro182Leu)
|
rs753744335
|
0.00001
|
NM_001370466.1(NOD2):c.566-7C>T
|
rs750917301
|
0.00001
|
NM_001370466.1(NOD2):c.600G>A (p.Arg200=)
|
rs777458605
|
0.00001
|
NM_001370466.1(NOD2):c.678A>T (p.Thr226=)
|
rs781099046
|
0.00001
|
NM_001370466.1(NOD2):c.851G>A (p.Arg284Gln)
|
rs778995814
|
0.00001
|
NM_001375808.2(LPIN2):c.102C>T (p.Ile34=)
|
rs961211983
|
0.00001
|
NM_001375808.2(LPIN2):c.1143A>G (p.Lys381=)
|
rs574890650
|
0.00001
|
NM_001375808.2(LPIN2):c.1155G>A (p.Pro385=)
|
rs558271134
|
0.00001
|
NM_001375808.2(LPIN2):c.1268+7T>C
|
rs1375096557
|
0.00001
|
NM_001375808.2(LPIN2):c.1275G>A (p.Ser425=)
|
rs1051720856
|
0.00001
|
NM_001375808.2(LPIN2):c.1299C>T (p.Pro433=)
|
rs781673368
|
0.00001
|
NM_001375808.2(LPIN2):c.1332A>G (p.Pro444=)
|
rs1297660489
|
0.00001
|
NM_001375808.2(LPIN2):c.1368C>T (p.Thr456=)
|
rs748919467
|
0.00001
|
NM_001375808.2(LPIN2):c.1404C>T (p.Asp468=)
|
rs376147435
|
0.00001
|
NM_001375808.2(LPIN2):c.1488C>T (p.His496=)
|
rs773652492
|
0.00001
|
NM_001375808.2(LPIN2):c.1621-7T>G
|
rs758701848
|
0.00001
|
NM_001375808.2(LPIN2):c.1711-9C>G
|
rs774311463
|
0.00001
|
NM_001375808.2(LPIN2):c.1746G>A (p.Pro582=)
|
rs756661200
|
0.00001
|
NM_001375808.2(LPIN2):c.1782G>A (p.Pro594=)
|
rs763809465
|
0.00001
|
NM_001375808.2(LPIN2):c.1785C>T (p.Ala595=)
|
rs775141304
|
0.00001
|
NM_001375808.2(LPIN2):c.1854A>G (p.Thr618=)
|
rs753630025
|
0.00001
|
NM_001375808.2(LPIN2):c.1860C>T (p.Asp620=)
|
rs760510209
|
0.00001
|
NM_001375808.2(LPIN2):c.1938+10G>A
|
rs750261432
|
0.00001
|
NM_001375808.2(LPIN2):c.2091G>A (p.Ser697=)
|
rs767788156
|
0.00001
|
NM_001375808.2(LPIN2):c.210C>T (p.Asn70=)
|
rs780037453
|
0.00001
|
NM_001375808.2(LPIN2):c.2202G>A (p.Ser734=)
|
rs559418917
|
0.00001
|
NM_001375808.2(LPIN2):c.2214C>T (p.Ile738=)
|
rs769457477
|
0.00001
|
NM_001375808.2(LPIN2):c.2400G>C (p.Pro800=)
|
rs747097533
|
0.00001
|
NM_001375808.2(LPIN2):c.2442+13T>C
|
rs749917642
|
0.00001
|
NM_001375808.2(LPIN2):c.2443-14A>G
|
rs749926941
|
0.00001
|
NM_001375808.2(LPIN2):c.2443-4G>A
|
rs374426227
|
0.00001
|
NM_001375808.2(LPIN2):c.2481T>C (p.Cys827=)
|
rs771390365
|
0.00001
|
NM_001375808.2(LPIN2):c.2493C>T (p.Thr831=)
|
rs1167923626
|
0.00001
|
NM_001375808.2(LPIN2):c.2502C>A (p.Pro834=)
|
rs748215246
|
0.00001
|
NM_001375808.2(LPIN2):c.27G>C (p.Gly9=)
|
rs193085338
|
0.00001
|
NM_001375808.2(LPIN2):c.54C>A (p.Leu18=)
|
rs753729438
|
0.00001
|
NM_001375808.2(LPIN2):c.590+8T>G
|
rs760846327
|
0.00001
|
NM_001375808.2(LPIN2):c.591-12T>C
|
rs1392566154
|
0.00001
|
NM_001375808.2(LPIN2):c.705T>C (p.Tyr235=)
|
rs376775853
|
0.00001
|
NM_001375808.2(LPIN2):c.756G>A (p.Ala252=)
|
rs570485374
|
0.00001
|
NM_001375808.2(LPIN2):c.795G>A (p.Thr265=)
|
rs373300544
|
0.00001
|
NM_001375808.2(LPIN2):c.822+8G>A
|
rs1229703486
|
0.00001
|
NM_001375808.2(LPIN2):c.825C>T (p.Val275=)
|
rs1296229873
|
0.00001
|
NM_001375808.2(LPIN2):c.87G>A (p.Gly29=)
|
rs1346313879
|
0.00001
|
NM_001457.4(FLNB):c.5533G>A (p.Val1845Ile)
|
rs575434109
|
0.00001
|
NM_001457.4(FLNB):c.6755A>T (p.Tyr2252Phe)
|
rs200567066
|
0.00001
|
NM_001558.4(IL10RA):c.1026C>G (p.Pro342=)
|
rs920826390
|
0.00001
|
NM_001558.4(IL10RA):c.1066C>T (p.Leu356=)
|
rs929727945
|
0.00001
|
NM_001558.4(IL10RA):c.1284G>A (p.Pro428=)
|
rs543841858
|
0.00001
|
NM_001558.4(IL10RA):c.1323G>A (p.Val441=)
|
rs746663189
|
0.00001
|
NM_001558.4(IL10RA):c.1689A>C (p.Ser563=)
|
rs768512760
|
0.00001
|
NM_001558.4(IL10RA):c.219C>T (p.Ser73=)
|
rs1207720023
|
0.00001
|
NM_001558.4(IL10RA):c.368-16C>A
|
rs753890544
|
0.00001
|
NM_001558.4(IL10RA):c.45C>T (p.Leu15=)
|
rs1230361448
|
0.00001
|
NM_001558.4(IL10RA):c.465C>T (p.Asp155=)
|
rs138148977
|
0.00001
|
NM_001558.4(IL10RA):c.477C>T (p.Ser159=)
|
rs1313096322
|
0.00001
|
NM_001558.4(IL10RA):c.495A>C (p.Arg165=)
|
rs1407417594
|
0.00001
|
NM_001558.4(IL10RA):c.633C>T (p.Ser211=)
|
rs781588311
|
0.00001
|
NM_001558.4(IL10RA):c.67+17C>T
|
rs1324455309
|
0.00001
|
NM_001558.4(IL10RA):c.716T>C (p.Phe239Ser)
|
rs541386535
|
0.00001
|
NM_001558.4(IL10RA):c.885G>A (p.Pro295=)
|
rs201071622
|
0.00001
|
NM_001558.4(IL10RA):c.999C>T (p.Pro333=)
|
rs570350055
|
0.00001
|
NM_001611.5(ACP5):c.262-15A>G
|
rs200250079
|
0.00001
|
NM_001611.5(ACP5):c.279A>G (p.Val93=)
|
rs1351504233
|
0.00001
|
NM_001611.5(ACP5):c.327A>G (p.Gly109=)
|
rs1973176548
|
0.00001
|
NM_001611.5(ACP5):c.522G>A (p.Arg174=)
|
rs376767095
|
0.00001
|
NM_001611.5(ACP5):c.579G>A (p.Ala193=)
|
rs752926629
|
0.00001
|
NM_001611.5(ACP5):c.735+18G>A
|
rs1413963470
|
0.00001
|
NM_001611.5(ACP5):c.735+7G>T
|
rs1484884500
|
0.00001
|
NM_001611.5(ACP5):c.756C>T (p.Gly252=)
|
rs139096747
|
0.00001
|
NM_001611.5(ACP5):c.765C>T (p.Tyr255=)
|
rs549955384
|
0.00001
|
NM_001611.5(ACP5):c.777G>T (p.Gly259=)
|
rs368442469
|
0.00001
|
NM_001844.5(COL2A1):c.1452C>T (p.Pro484=)
|
rs755093756
|
0.00001
|
NM_001844.5(COL2A1):c.4254C>T (p.Asp1418=)
|
rs748658390
|
0.00001
|
NM_001851.6(COL9A1):c.2562T>C (p.Pro854=)
|
rs1135057
|
0.00001
|
NM_001854.4(COL11A1):c.1899+16T>G
|
rs767808576
|
0.00001
|
NM_001854.4(COL11A1):c.2196+15C>T
|
rs768084384
|
0.00001
|
NM_001854.4(COL11A1):c.3493-17T>C
|
rs776451100
|
0.00001
|
NM_001854.4(COL11A1):c.3698A>G (p.Asn1233Ser)
|
rs778311240
|
0.00001
|
NM_001999.4(FBN2):c.1011C>T (p.Thr337=)
|
rs781086796
|
0.00001
|
NM_001999.4(FBN2):c.1061A>G (p.Asp354Gly)
|
rs761066631
|
0.00001
|
NM_001999.4(FBN2):c.1070G>A (p.Arg357Gln)
|
rs773969876
|
0.00001
|
NM_001999.4(FBN2):c.1079-14T>G
|
rs754310681
|
0.00001
|
NM_001999.4(FBN2):c.1143G>T (p.Gly381=)
|
rs749428195
|
0.00001
|
NM_001999.4(FBN2):c.1151C>T (p.Thr384Met)
|
rs371826887
|
0.00001
|
NM_001999.4(FBN2):c.1157T>C (p.Met386Thr)
|
rs750949734
|
0.00001
|
NM_001999.4(FBN2):c.115C>G (p.Arg39Gly)
|
rs763202121
|
0.00001
|
NM_001999.4(FBN2):c.1260A>C (p.Gly420=)
|
rs766241911
|
0.00001
|
NM_001999.4(FBN2):c.126G>A (p.Pro42=)
|
rs771657289
|
0.00001
|
NM_001999.4(FBN2):c.1338C>G (p.Gly446=)
|
rs1060504933
|
0.00001
|
NM_001999.4(FBN2):c.1391G>A (p.Gly464Asp)
|
rs748584140
|
0.00001
|
NM_001999.4(FBN2):c.1431G>A (p.Gly477=)
|
rs759633050
|
0.00001
|
NM_001999.4(FBN2):c.1603+7T>C
|
rs1477450908
|
0.00001
|
NM_001999.4(FBN2):c.1671T>C (p.Tyr557=)
|
rs1487989552
|
0.00001
|
NM_001999.4(FBN2):c.1716A>G (p.Ala572=)
|
rs771782180
|
0.00001
|
NM_001999.4(FBN2):c.1724-6T>C
|
rs1259657269
|
0.00001
|
NM_001999.4(FBN2):c.1774G>T (p.Val592Leu)
|
rs762427107
|
0.00001
|
NM_001999.4(FBN2):c.1776G>A (p.Val592=)
|
rs775492838
|
0.00001
|
NM_001999.4(FBN2):c.1821A>G (p.Glu607=)
|
rs776515245
|
0.00001
|
NM_001999.4(FBN2):c.1842C>T (p.Asn614=)
|
rs968593645
|
0.00001
|
NM_001999.4(FBN2):c.1866A>G (p.Thr622=)
|
rs1060504934
|
0.00001
|
NM_001999.4(FBN2):c.1884G>A (p.Leu628=)
|
rs1237327921
|
0.00001
|
NM_001999.4(FBN2):c.1902T>C (p.Asn634=)
|
rs553052214
|
0.00001
|
NM_001999.4(FBN2):c.2013G>A (p.Gly671=)
|
rs778762668
|
0.00001
|
NM_001999.4(FBN2):c.2041C>T (p.Arg681Cys)
|
rs750406193
|
0.00001
|
NM_001999.4(FBN2):c.2043C>T (p.Arg681=)
|
rs1476851135
|
0.00001
|
NM_001999.4(FBN2):c.2084G>A (p.Arg695His)
|
rs143722436
|
0.00001
|
NM_001999.4(FBN2):c.2096-13del
|
rs746826953
|
0.00001
|
NM_001999.4(FBN2):c.2099C>T (p.Thr700Ile)
|
rs773667668
|
0.00001
|
NM_001999.4(FBN2):c.2160C>T (p.Pro720=)
|
rs889188442
|
0.00001
|
NM_001999.4(FBN2):c.2202C>T (p.Asp734=)
|
rs1057470455
|
0.00001
|
NM_001999.4(FBN2):c.220G>A (p.Val74Ile)
|
rs779812100
|
0.00001
|
NM_001999.4(FBN2):c.2259C>T (p.His753=)
|
rs1751768248
|
0.00001
|
NM_001999.4(FBN2):c.2283T>C (p.Gly761=)
|
rs1235214641
|
0.00001
|
NM_001999.4(FBN2):c.2428+9T>C
|
rs368374358
|
0.00001
|
NM_001999.4(FBN2):c.2487G>T (p.Thr829=)
|
rs779455710
|
0.00001
|
NM_001999.4(FBN2):c.2511C>T (p.Cys837=)
|
rs756813212
|
0.00001
|
NM_001999.4(FBN2):c.2554+18C>T
|
rs778973357
|
0.00001
|
NM_001999.4(FBN2):c.2554+19G>A
|
rs199897237
|
0.00001
|
NM_001999.4(FBN2):c.258C>T (p.Pro86=)
|
rs780509984
|
0.00001
|
NM_001999.4(FBN2):c.2661A>G (p.Gly887=)
|
rs774598529
|
0.00001
|
NM_001999.4(FBN2):c.2675-8C>G
|
rs1451128883
|
0.00001
|
NM_001999.4(FBN2):c.2715C>T (p.Ser905=)
|
rs998086640
|
0.00001
|
NM_001999.4(FBN2):c.2740G>A (p.Ala914Thr)
|
rs370312107
|
0.00001
|
NM_001999.4(FBN2):c.2777C>A (p.Ala926Asp)
|
rs138429045
|
0.00001
|
NM_001999.4(FBN2):c.2813-12T>C
|
rs1395669341
|
0.00001
|
NM_001999.4(FBN2):c.2864-12A>G
|
rs1234935460
|
0.00001
|
NM_001999.4(FBN2):c.2874G>A (p.Glu958=)
|
rs765859878
|
0.00001
|
NM_001999.4(FBN2):c.294C>T (p.Cys98=)
|
rs765214316
|
0.00001
|
NM_001999.4(FBN2):c.2989+18A>T
|
rs769856454
|
0.00001
|
NM_001999.4(FBN2):c.2990-13G>A
|
rs375326505
|
0.00001
|
NM_001999.4(FBN2):c.3054A>G (p.Gly1018=)
|
rs1255532545
|
0.00001
|
NM_001999.4(FBN2):c.3106G>A (p.Glu1036Lys)
|
rs773473369
|
0.00001
|
NM_001999.4(FBN2):c.3114G>C (p.Glu1038Asp)
|
rs199938409
|
0.00001
|
NM_001999.4(FBN2):c.3145G>A (p.Glu1049Lys)
|
rs771853346
|
0.00001
|
NM_001999.4(FBN2):c.3253A>C (p.Thr1085Pro)
|
rs863223562
|
0.00001
|
NM_001999.4(FBN2):c.3277A>G (p.Ile1093Val)
|
rs747248488
|
0.00001
|
NM_001999.4(FBN2):c.3280G>A (p.Gly1094Arg)
|
rs758659538
|
0.00001
|
NM_001999.4(FBN2):c.3290A>C (p.Lys1097Thr)
|
rs765437414
|
0.00001
|
NM_001999.4(FBN2):c.3304A>G (p.Ser1102Gly)
|
rs761012607
|
0.00001
|
NM_001999.4(FBN2):c.3420C>T (p.Cys1140=)
|
rs756541654
|
0.00001
|
NM_001999.4(FBN2):c.3534G>C (p.Glu1178Asp)
|
rs771385579
|
0.00001
|
NM_001999.4(FBN2):c.3567C>T (p.His1189=)
|
rs945523399
|
0.00001
|
NM_001999.4(FBN2):c.3609A>G (p.Glu1203=)
|
rs941219425
|
0.00001
|
NM_001999.4(FBN2):c.3614C>T (p.Ser1205Phe)
|
rs1389689622
|
0.00001
|
NM_001999.4(FBN2):c.3630C>G (p.Leu1210=)
|
rs764902856
|
0.00001
|
NM_001999.4(FBN2):c.3675C>T (p.Cys1225=)
|
rs141485941
|
0.00001
|
NM_001999.4(FBN2):c.3750C>T (p.Asn1250=)
|
rs750559514
|
0.00001
|
NM_001999.4(FBN2):c.3877A>T (p.Ile1293Phe)
|
rs1263059454
|
0.00001
|
NM_001999.4(FBN2):c.3889G>A (p.Gly1297Ser)
|
rs755489065
|
0.00001
|
NM_001999.4(FBN2):c.3919C>T (p.Arg1307Cys)
|
rs922751471
|
0.00001
|
NM_001999.4(FBN2):c.3984A>G (p.Glu1328=)
|
rs1394998823
|
0.00001
|
NM_001999.4(FBN2):c.4052A>G (p.His1351Arg)
|
rs1039821634
|
0.00001
|
NM_001999.4(FBN2):c.4134C>T (p.Cys1378=)
|
rs775405425
|
0.00001
|
NM_001999.4(FBN2):c.413C>T (p.Ser138Leu)
|
rs149305476
|
0.00001
|
NM_001999.4(FBN2):c.4208G>A (p.Gly1403Asp)
|
rs750327890
|
0.00001
|
NM_001999.4(FBN2):c.4283C>A (p.Thr1428Asn)
|
rs367961012
|
0.00001
|
NM_001999.4(FBN2):c.4287G>A (p.Pro1429=)
|
rs761049150
|
0.00001
|
NM_001999.4(FBN2):c.4296C>T (p.Tyr1432=)
|
rs147046215
|
0.00001
|
NM_001999.4(FBN2):c.42G>T (p.Leu14=)
|
rs376407285
|
0.00001
|
NM_001999.4(FBN2):c.432A>G (p.Lys144=)
|
rs201247200
|
0.00001
|
NM_001999.4(FBN2):c.4346-6G>T
|
rs755217606
|
0.00001
|
NM_001999.4(FBN2):c.4406C>T (p.Pro1469Leu)
|
rs770606176
|
0.00001
|
NM_001999.4(FBN2):c.4419C>T (p.Arg1473=)
|
rs1750619535
|
0.00001
|
NM_001999.4(FBN2):c.4515A>G (p.Thr1505=)
|
rs751938197
|
0.00001
|
NM_001999.4(FBN2):c.4595-19T>C
|
rs201459526
|
0.00001
|
NM_001999.4(FBN2):c.4608T>C (p.Cys1536=)
|
rs1176811808
|
0.00001
|
NM_001999.4(FBN2):c.4680C>T (p.Pro1560=)
|
rs377502943
|
0.00001
|
NM_001999.4(FBN2):c.4690T>C (p.Leu1564=)
|
rs886038504
|
0.00001
|
NM_001999.4(FBN2):c.4867C>G (p.Pro1623Ala)
|
rs139830237
|
0.00001
|
NM_001999.4(FBN2):c.4879+7A>G
|
rs555328744
|
0.00001
|
NM_001999.4(FBN2):c.488A>G (p.His163Arg)
|
rs1029299660
|
0.00001
|
NM_001999.4(FBN2):c.4890C>T (p.Tyr1630=)
|
rs1488160637
|
0.00001
|
NM_001999.4(FBN2):c.4949-5T>C
|
rs1264068007
|
0.00001
|
NM_001999.4(FBN2):c.5074+7T>C
|
rs201951284
|
0.00001
|
NM_001999.4(FBN2):c.5075-4C>G
|
rs779999668
|
0.00001
|
NM_001999.4(FBN2):c.522T>C (p.Tyr174=)
|
rs573915338
|
0.00001
|
NM_001999.4(FBN2):c.5267A>G (p.Asn1756Ser)
|
rs760065931
|
0.00001
|
NM_001999.4(FBN2):c.5295A>C (p.Thr1765=)
|
rs941916367
|
0.00001
|
NM_001999.4(FBN2):c.5303T>C (p.Val1768Ala)
|
rs779202876
|
0.00001
|
NM_001999.4(FBN2):c.533-4G>T
|
rs372596001
|
0.00001
|
NM_001999.4(FBN2):c.5353+20A>G
|
rs759401474
|
0.00001
|
NM_001999.4(FBN2):c.5354-14T>C
|
rs756825167
|
0.00001
|
NM_001999.4(FBN2):c.5427T>C (p.Ile1809=)
|
rs756365546
|
0.00001
|
NM_001999.4(FBN2):c.5487C>T (p.Gly1829=)
|
rs375136629
|
0.00001
|
NM_001999.4(FBN2):c.5539G>C (p.Val1847Leu)
|
rs863223610
|
0.00001
|
NM_001999.4(FBN2):c.5549-8T>A
|
rs1339062362
|
0.00001
|
NM_001999.4(FBN2):c.5587C>T (p.Arg1863Trp)
|
rs1192632165
|
0.00001
|
NM_001999.4(FBN2):c.559G>A (p.Gly187Ser)
|
rs773732645
|
0.00001
|
NM_001999.4(FBN2):c.5639C>T (p.Ala1880Val)
|
rs779567163
|
0.00001
|
NM_001999.4(FBN2):c.5660A>G (p.Asn1887Ser)
|
rs745759959
|
0.00001
|
NM_001999.4(FBN2):c.5682T>C (p.Asn1894=)
|
rs991908659
|
0.00001
|
NM_001999.4(FBN2):c.5731C>T (p.Leu1911=)
|
rs768733086
|
0.00001
|
NM_001999.4(FBN2):c.573C>T (p.Ile191=)
|
rs370698125
|
0.00001
|
NM_001999.4(FBN2):c.5800+10G>A
|
rs546373462
|
0.00001
|
NM_001999.4(FBN2):c.5899C>T (p.His1967Tyr)
|
rs369652475
|
0.00001
|
NM_001999.4(FBN2):c.5918-4A>G
|
rs1382347293
|
0.00001
|
NM_001999.4(FBN2):c.5918-7C>G
|
rs750463932
|
0.00001
|
NM_001999.4(FBN2):c.5965C>T (p.Arg1989Cys)
|
rs758369648
|
0.00001
|
NM_001999.4(FBN2):c.6027A>G (p.Pro2009=)
|
rs147474868
|
0.00001
|
NM_001999.4(FBN2):c.6033C>G (p.Gly2011=)
|
rs749647897
|
0.00001
|
NM_001999.4(FBN2):c.6093C>G (p.Thr2031=)
|
rs1131691293
|
0.00001
|
NM_001999.4(FBN2):c.6205T>C (p.Phe2069Leu)
|
rs1295335940
|
0.00001
|
NM_001999.4(FBN2):c.6292+7T>C
|
rs775471488
|
0.00001
|
NM_001999.4(FBN2):c.6306C>T (p.Ser2102=)
|
rs374717631
|
0.00001
|
NM_001999.4(FBN2):c.6438C>T (p.Asp2146=)
|
rs772832233
|
0.00001
|
NM_001999.4(FBN2):c.6445+10A>G
|
rs774706397
|
0.00001
|
NM_001999.4(FBN2):c.6445+11T>C
|
rs766726816
|
0.00001
|
NM_001999.4(FBN2):c.6450A>T (p.Ala2150=)
|
rs1199375914
|
0.00001
|
NM_001999.4(FBN2):c.6477T>C (p.His2159=)
|
rs768972914
|
0.00001
|
NM_001999.4(FBN2):c.6511+7T>C
|
rs1201683263
|
0.00001
|
NM_001999.4(FBN2):c.6512-14G>A
|
rs765303543
|
0.00001
|
NM_001999.4(FBN2):c.6518A>G (p.Asn2173Ser)
|
rs143054385
|
0.00001
|
NM_001999.4(FBN2):c.6584G>A (p.Arg2195His)
|
rs144887443
|
0.00001
|
NM_001999.4(FBN2):c.6610C>G (p.Leu2204Val)
|
rs201541140
|
0.00001
|
NM_001999.4(FBN2):c.6611T>C (p.Leu2204Pro)
|
rs772480416
|
0.00001
|
NM_001999.4(FBN2):c.6629G>A (p.Arg2210His)
|
rs745396297
|
0.00001
|
NM_001999.4(FBN2):c.6637+18A>G
|
rs777841785
|
0.00001
|
NM_001999.4(FBN2):c.6658G>A (p.Gly2220Ser)
|
rs863223582
|
0.00001
|
NM_001999.4(FBN2):c.6665C>T (p.Pro2222Leu)
|
rs747908706
|
0.00001
|
NM_001999.4(FBN2):c.6669T>C (p.Cys2223=)
|
rs754724355
|
0.00001
|
NM_001999.4(FBN2):c.6758-14A>G
|
rs757283004
|
0.00001
|
NM_001999.4(FBN2):c.6795T>C (p.Ala2265=)
|
rs753071532
|
0.00001
|
NM_001999.4(FBN2):c.680G>A (p.Gly227Glu)
|
rs760247833
|
0.00001
|
NM_001999.4(FBN2):c.6834G>A (p.Thr2278=)
|
rs374853253
|
0.00001
|
NM_001999.4(FBN2):c.6881-8T>G
|
rs1355994517
|
0.00001
|
NM_001999.4(FBN2):c.6896C>T (p.Ala2299Val)
|
rs756798856
|
0.00001
|
NM_001999.4(FBN2):c.6960G>A (p.Met2320Ile)
|
rs780214155
|
0.00001
|
NM_001999.4(FBN2):c.6996T>C (p.Asp2332=)
|
rs753673393
|
0.00001
|
NM_001999.4(FBN2):c.7007G>A (p.Cys2336Tyr)
|
rs760494751
|
0.00001
|
NM_001999.4(FBN2):c.7013-18T>C
|
rs375140877
|
0.00001
|
NM_001999.4(FBN2):c.7057C>T (p.Arg2353Cys)
|
rs863223586
|
0.00001
|
NM_001999.4(FBN2):c.7058G>A (p.Arg2353His)
|
rs775905979
|
0.00001
|
NM_001999.4(FBN2):c.7174C>A (p.Gln2392Lys)
|
rs762730300
|
0.00001
|
NM_001999.4(FBN2):c.7306A>C (p.Ile2436Leu)
|
rs755134019
|
0.00001
|
NM_001999.4(FBN2):c.7308A>T (p.Ile2436=)
|
rs1005611432
|
0.00001
|
NM_001999.4(FBN2):c.7317T>C (p.His2439=)
|
rs1554117089
|
0.00001
|
NM_001999.4(FBN2):c.7331C>T (p.Thr2444Ile)
|
rs201883128
|
0.00001
|
NM_001999.4(FBN2):c.7405A>G (p.Met2469Val)
|
rs863223546
|
0.00001
|
NM_001999.4(FBN2):c.7472-14T>A
|
rs772646837
|
0.00001
|
NM_001999.4(FBN2):c.7472-17A>G
|
rs773888786
|
0.00001
|
NM_001999.4(FBN2):c.7524C>T (p.Asn2508=)
|
rs1765389228
|
0.00001
|
NM_001999.4(FBN2):c.7595-8A>G
|
rs878854479
|
0.00001
|
NM_001999.4(FBN2):c.7655G>A (p.Gly2552Glu)
|
rs1473525001
|
0.00001
|
NM_001999.4(FBN2):c.7659G>A (p.Gly2553=)
|
rs763586091
|
0.00001
|
NM_001999.4(FBN2):c.7676C>T (p.Pro2559Leu)
|
rs770193908
|
0.00001
|
NM_001999.4(FBN2):c.767C>T (p.Ala256Val)
|
rs1345155944
|
0.00001
|
NM_001999.4(FBN2):c.7720G>A (p.Glu2574Lys)
|
rs377689621
|
0.00001
|
NM_001999.4(FBN2):c.7740G>A (p.Ser2580=)
|
rs942206547
|
0.00001
|
NM_001999.4(FBN2):c.7741C>T (p.Leu2581Phe)
|
rs146316163
|
0.00001
|
NM_001999.4(FBN2):c.7767A>G (p.Gln2589=)
|
rs777828326
|
0.00001
|
NM_001999.4(FBN2):c.778C>G (p.Pro260Ala)
|
rs774323549
|
0.00001
|
NM_001999.4(FBN2):c.787C>T (p.Arg263Trp)
|
rs151329128
|
0.00001
|
NM_001999.4(FBN2):c.7886A>G (p.Gln2629Arg)
|
rs768750542
|
0.00001
|
NM_001999.4(FBN2):c.7960+20A>G
|
rs761551216
|
0.00001
|
NM_001999.4(FBN2):c.7961-11C>T
|
rs751924753
|
0.00001
|
NM_001999.4(FBN2):c.8045C>T (p.Ser2682Leu)
|
rs370250073
|
0.00001
|
NM_001999.4(FBN2):c.8125G>A (p.Gly2709Ser)
|
rs145809527
|
0.00001
|
NM_001999.4(FBN2):c.8193-7C>G
|
rs754837805
|
0.00001
|
NM_001999.4(FBN2):c.8196C>T (p.His2732=)
|
rs780426123
|
0.00001
|
NM_001999.4(FBN2):c.827-19A>G
|
rs199559284
|
0.00001
|
NM_001999.4(FBN2):c.8302A>C (p.Asn2768His)
|
rs1262933234
|
0.00001
|
NM_001999.4(FBN2):c.8344C>T (p.His2782Tyr)
|
rs745600341
|
0.00001
|
NM_001999.4(FBN2):c.8365-5T>C
|
rs1237152538
|
0.00001
|
NM_001999.4(FBN2):c.8365-7C>A
|
rs1185451078
|
0.00001
|
NM_001999.4(FBN2):c.8413A>G (p.Met2805Val)
|
rs776610785
|
0.00001
|
NM_001999.4(FBN2):c.8417A>T (p.Lys2806Met)
|
rs565816741
|
0.00001
|
NM_001999.4(FBN2):c.8513A>G (p.Gln2838Arg)
|
rs772928933
|
0.00001
|
NM_001999.4(FBN2):c.8574G>A (p.Thr2858=)
|
rs573245869
|
0.00001
|
NM_001999.4(FBN2):c.8705C>A (p.Ala2902Asp)
|
rs757052151
|
0.00001
|
NM_001999.4(FBN2):c.885A>G (p.Thr295=)
|
rs989219711
|
0.00001
|
NM_001999.4(FBN2):c.951A>G (p.Glu317=)
|
rs1326391832
|
0.00001
|
NM_001999.4(FBN2):c.953-9C>T
|
rs1181205032
|
0.00001
|
NM_002474.3(MYH11):c.1020G>A (p.Glu340=)
|
rs1225127871
|
0.00001
|
NM_002474.3(MYH11):c.1794G>A (p.Pro598=)
|
rs749272388
|
0.00001
|
NM_002609.4(PDGFRB):c.1472T>C (p.Val491Ala)
|
rs540480924
|
0.00001
|
NM_002609.4(PDGFRB):c.1884G>A (p.Thr628=)
|
rs201518972
|
0.00001
|
NM_002609.4(PDGFRB):c.2238C>T (p.Asp746=)
|
rs555800957
|
0.00001
|
NM_002609.4(PDGFRB):c.2326G>A (p.Asp776Asn)
|
rs751904503
|
0.00001
|
NM_002609.4(PDGFRB):c.2467G>A (p.Val823Ile)
|
rs377442091
|
0.00001
|
NM_002609.4(PDGFRB):c.2890G>A (p.Glu964Lys)
|
rs747398617
|
0.00001
|
NM_002609.4(PDGFRB):c.419C>T (p.Thr140Met)
|
rs138830253
|
0.00001
|
NM_002609.4(PDGFRB):c.438C>A (p.Thr146=)
|
rs764023871
|
0.00001
|
NM_002609.4(PDGFRB):c.615T>C (p.Tyr205=)
|
rs756283680
|
0.00001
|
NM_002609.4(PDGFRB):c.726G>C (p.Val242=)
|
rs149027530
|
0.00001
|
NM_002609.4(PDGFRB):c.783G>A (p.Val261=)
|
rs142649064
|
0.00001
|
NM_002609.4(PDGFRB):c.858G>A (p.Ser286=)
|
rs778116813
|
0.00001
|
NM_002661.5(PLCG2):c.102C>G (p.Arg34=)
|
rs1319448998
|
0.00001
|
NM_002661.5(PLCG2):c.1056C>T (p.Gly352=)
|
rs1015042274
|
0.00001
|
NM_002661.5(PLCG2):c.1073-5T>C
|
rs747719191
|
0.00001
|
NM_002661.5(PLCG2):c.1104G>A (p.Pro368=)
|
rs769107090
|
0.00001
|
NM_002661.5(PLCG2):c.1176C>T (p.His392=)
|
rs773286721
|
0.00001
|
NM_002661.5(PLCG2):c.117G>A (p.Glu39=)
|
rs1437145496
|
0.00001
|
NM_002661.5(PLCG2):c.1212C>T (p.Ser404=)
|
rs1405057614
|
0.00001
|
NM_002661.5(PLCG2):c.1221G>A (p.Glu407=)
|
rs775409619
|
0.00001
|
NM_002661.5(PLCG2):c.1236G>A (p.Glu412=)
|
rs372240617
|
0.00001
|
NM_002661.5(PLCG2):c.1254C>G (p.Ala418=)
|
rs761827366
|
0.00001
|
NM_002661.5(PLCG2):c.126C>T (p.Thr42=)
|
rs753972799
|
0.00001
|
NM_002661.5(PLCG2):c.1362+8C>A
|
rs372538067
|
0.00001
|
NM_002661.5(PLCG2):c.1363-17A>G
|
rs758880421
|
0.00001
|
NM_002661.5(PLCG2):c.1389T>C (p.Asp463=)
|
rs758552501
|
0.00001
|
NM_002661.5(PLCG2):c.1557+12C>A
|
rs374922699
|
0.00001
|
NM_002661.5(PLCG2):c.1572A>T (p.Thr524=)
|
rs373910195
|
0.00001
|
NM_002661.5(PLCG2):c.1794A>G (p.Lys598=)
|
rs780735932
|
0.00001
|
NM_002661.5(PLCG2):c.1872C>T (p.Cys624=)
|
rs368337142
|
0.00001
|
NM_002661.5(PLCG2):c.1896G>T (p.Thr632=)
|
rs746397807
|
0.00001
|
NM_002661.5(PLCG2):c.193+10C>T
|
rs758690442
|
0.00001
|
NM_002661.5(PLCG2):c.1934+8T>G
|
rs780081424
|
0.00001
|
NM_002661.5(PLCG2):c.2032G>A (p.Asp678Asn)
|
rs541071022
|
0.00001
|
NM_002661.5(PLCG2):c.2054+20G>T
|
rs749195185
|
0.00001
|
NM_002661.5(PLCG2):c.2067G>A (p.Lys689=)
|
rs1369861469
|
0.00001
|
NM_002661.5(PLCG2):c.2201C>T (p.Pro734Leu)
|
rs199516791
|
0.00001
|
NM_002661.5(PLCG2):c.222C>T (p.Arg74=)
|
rs753227282
|
0.00001
|
NM_002661.5(PLCG2):c.2256C>G (p.Leu752=)
|
rs376208314
|
0.00001
|
NM_002661.5(PLCG2):c.2307+11G>A
|
rs768330532
|
0.00001
|
NM_002661.5(PLCG2):c.2308-9C>G
|
rs1389430987
|
0.00001
|
NM_002661.5(PLCG2):c.2397C>G (p.Val799=)
|
rs376061730
|
0.00001
|
NM_002661.5(PLCG2):c.2445C>T (p.Ile815=)
|
rs747815875
|
0.00001
|
NM_002661.5(PLCG2):c.2472C>T (p.Val824=)
|
rs763617895
|
0.00001
|
NM_002661.5(PLCG2):c.2505A>G (p.Leu835=)
|
rs368887042
|
0.00001
|
NM_002661.5(PLCG2):c.2544T>C (p.Leu848=)
|
rs373866566
|
0.00001
|
NM_002661.5(PLCG2):c.2562C>T (p.Asp854=)
|
rs1433855631
|
0.00001
|
NM_002661.5(PLCG2):c.2582-13C>T
|
rs768351134
|
0.00001
|
NM_002661.5(PLCG2):c.2582-5C>G
|
rs771695879
|
0.00001
|
NM_002661.5(PLCG2):c.2634C>A (p.Pro878=)
|
rs1910503444
|
0.00001
|
NM_002661.5(PLCG2):c.2646C>T (p.Gly882=)
|
rs756173730
|
0.00001
|
NM_002661.5(PLCG2):c.2688C>A (p.Leu896=)
|
rs1405694465
|
0.00001
|
NM_002661.5(PLCG2):c.2730T>A (p.Ile910=)
|
rs1314301850
|
0.00001
|
NM_002661.5(PLCG2):c.2739+14C>T
|
rs1281297047
|
0.00001
|
NM_002661.5(PLCG2):c.2739+19G>A
|
rs776050949
|
0.00001
|
NM_002661.5(PLCG2):c.2828C>G (p.Thr943Ser)
|
rs771302628
|
0.00001
|
NM_002661.5(PLCG2):c.2842+11T>A
|
rs1388854237
|
0.00001
|
NM_002661.5(PLCG2):c.2910G>A (p.Lys970=)
|
rs746344109
|
0.00001
|
NM_002661.5(PLCG2):c.2922C>G (p.Leu974=)
|
rs773033222
|
0.00001
|
NM_002661.5(PLCG2):c.2994C>T (p.Asp998=)
|
rs766228601
|
0.00001
|
NM_002661.5(PLCG2):c.3052+6G>T
|
rs748210655
|
0.00001
|
NM_002661.5(PLCG2):c.3054T>C (p.Asp1018=)
|
rs1555522458
|
0.00001
|
NM_002661.5(PLCG2):c.3108C>T (p.Tyr1036=)
|
rs763328510
|
0.00001
|
NM_002661.5(PLCG2):c.3111T>A (p.Val1037=)
|
rs1016764190
|
0.00001
|
NM_002661.5(PLCG2):c.3199-7G>A
|
rs757224135
|
0.00001
|
NM_002661.5(PLCG2):c.3204C>T (p.Leu1068=)
|
rs755638224
|
0.00001
|
NM_002661.5(PLCG2):c.3249C>G (p.Pro1083=)
|
rs775558455
|
0.00001
|
NM_002661.5(PLCG2):c.3276C>T (p.Ala1092=)
|
rs774158419
|
0.00001
|
NM_002661.5(PLCG2):c.3303G>A (p.Thr1101=)
|
rs765973472
|
0.00001
|
NM_002661.5(PLCG2):c.3391T>C (p.Phe1131Leu)
|
rs756451585
|
0.00001
|
NM_002661.5(PLCG2):c.3481+16A>G
|
rs754348029
|
0.00001
|
NM_002661.5(PLCG2):c.3528G>A (p.Glu1176=)
|
rs1441123083
|
0.00001
|
NM_002661.5(PLCG2):c.3561G>C (p.Arg1187=)
|
rs1911144676
|
0.00001
|
NM_002661.5(PLCG2):c.3576C>T (p.Ser1192=)
|
rs767695750
|
0.00001
|
NM_002661.5(PLCG2):c.3628C>T (p.Leu1210=)
|
rs377701753
|
0.00001
|
NM_002661.5(PLCG2):c.3654C>T (p.Asp1218=)
|
rs771989960
|
0.00001
|
NM_002661.5(PLCG2):c.3660C>T (p.His1220=)
|
rs1390892202
|
0.00001
|
NM_002661.5(PLCG2):c.3672C>T (p.Arg1224=)
|
rs1036927330
|
0.00001
|
NM_002661.5(PLCG2):c.3755+10C>G
|
rs772662966
|
0.00001
|
NM_002661.5(PLCG2):c.431+18G>C
|
rs1349853103
|
0.00001
|
NM_002661.5(PLCG2):c.474A>G (p.Arg158=)
|
rs1323043953
|
0.00001
|
NM_002661.5(PLCG2):c.564+8T>A
|
rs368907385
|
0.00001
|
NM_002661.5(PLCG2):c.565-13T>C
|
rs750350509
|
0.00001
|
NM_002661.5(PLCG2):c.591C>T (p.Leu197=)
|
rs1440994305
|
0.00001
|
NM_002661.5(PLCG2):c.648+7T>C
|
rs752316691
|
0.00001
|
NM_002661.5(PLCG2):c.649-4T>G
|
rs1199387746
|
0.00001
|
NM_002661.5(PLCG2):c.759A>G (p.Glu253=)
|
rs770775997
|
0.00001
|
NM_002661.5(PLCG2):c.822T>C (p.Asp274=)
|
rs764086374
|
0.00001
|
NM_002661.5(PLCG2):c.843T>C (p.Ala281=)
|
rs755732530
|
0.00001
|
NM_002661.5(PLCG2):c.868-16T>C
|
rs371818178
|
0.00001
|
NM_002661.5(PLCG2):c.870C>T (p.Phe290=)
|
rs1428474775
|
0.00001
|
NM_002661.5(PLCG2):c.921C>T (p.Asp307=)
|
rs533700490
|
0.00001
|
NM_002661.5(PLCG2):c.936G>A (p.Gln312=)
|
rs1239921611
|
0.00001
|
NM_002661.5(PLCG2):c.945C>T (p.Asn315=)
|
rs372795428
|
0.00001
|
NM_002661.5(PLCG2):c.987-20A>T
|
rs775128091
|
0.00001
|
NM_002834.5(PTPN11):c.1011G>A (p.Thr337=)
|
rs371951288
|
0.00001
|
NM_002834.5(PTPN11):c.1047C>T (p.Asn349=)
|
rs1222504763
|
0.00001
|
NM_002834.5(PTPN11):c.1131A>C (p.Leu377=)
|
rs370059077
|
0.00001
|
NM_002834.5(PTPN11):c.1233G>A (p.Thr411=)
|
rs1325353647
|
0.00001
|
NM_002834.5(PTPN11):c.1650G>A (p.Ala550=)
|
rs374896287
|
0.00001
|
NM_002834.5(PTPN11):c.874C>T (p.Leu292=)
|
rs930267460
|
0.00001
|
NM_003036.4(SKI):c.1005A>G (p.Lys335=)
|
rs1057524639
|
0.00001
|
NM_003036.4(SKI):c.1070G>A (p.Arg357Gln)
|
rs200874294
|
0.00001
|
NM_003036.4(SKI):c.1152C>T (p.Pro384=)
|
rs200160702
|
0.00001
|
NM_003036.4(SKI):c.1188C>T (p.His396=)
|
rs998931386
|
0.00001
|
NM_003036.4(SKI):c.1212-13C>G
|
rs754988590
|
0.00001
|
NM_003036.4(SKI):c.129G>A (p.Ala43=)
|
rs1313492083
|
0.00001
|
NM_003036.4(SKI):c.1314C>T (p.Ala438=)
|
rs554715623
|
0.00001
|
NM_003036.4(SKI):c.1317C>T (p.Val439=)
|
rs1446526482
|
0.00001
|
NM_003036.4(SKI):c.1339G>A (p.Ala447Thr)
|
rs1325458157
|
0.00001
|
NM_003036.4(SKI):c.1411G>T (p.Val471Leu)
|
rs745717087
|
0.00001
|
NM_003036.4(SKI):c.1422A>T (p.Pro474=)
|
rs772286488
|
0.00001
|
NM_003036.4(SKI):c.1428G>C (p.Glu476Asp)
|
rs776816870
|
0.00001
|
NM_003036.4(SKI):c.1474+8T>A
|
rs1249714928
|
0.00001
|
NM_003036.4(SKI):c.1475-5C>T
|
rs1640509294
|
0.00001
|
NM_003036.4(SKI):c.1476C>T (p.Phe492=)
|
rs1006090345
|
0.00001
|
NM_003036.4(SKI):c.1485C>T (p.Ser495=)
|
rs964817956
|
0.00001
|
NM_003036.4(SKI):c.1506G>A (p.Pro502=)
|
rs975738197
|
0.00001
|
NM_003036.4(SKI):c.1521C>T (p.Ser507=)
|
rs1430227962
|
0.00001
|
NM_003036.4(SKI):c.1530C>T (p.Ala510=)
|
rs1216089588
|
0.00001
|
NM_003036.4(SKI):c.1554G>A (p.Ala518=)
|
rs770050757
|
0.00001
|
NM_003036.4(SKI):c.1572C>T (p.Ala524=)
|
rs1285131836
|
0.00001
|
NM_003036.4(SKI):c.1620G>A (p.Ala540=)
|
rs529842293
|
0.00001
|
NM_003036.4(SKI):c.163G>C (p.Ala55Pro)
|
rs769506718
|
0.00001
|
NM_003036.4(SKI):c.1735G>A (p.Ala579Thr)
|
rs370558210
|
0.00001
|
NM_003036.4(SKI):c.1739C>T (p.Ala580Val)
|
rs1397350089
|
0.00001
|
NM_003036.4(SKI):c.1767+7G>A
|
rs199962561
|
0.00001
|
NM_003036.4(SKI):c.1768-4C>T
|
rs200246585
|
0.00001
|
NM_003036.4(SKI):c.1797G>A (p.Lys599=)
|
rs767488534
|
0.00001
|
NM_003036.4(SKI):c.1833C>T (p.Asn611=)
|
rs1557853907
|
0.00001
|
NM_003036.4(SKI):c.1860C>T (p.Arg620=)
|
rs1002513362
|
0.00001
|
NM_003036.4(SKI):c.1878G>A (p.Lys626=)
|
rs761614569
|
0.00001
|
NM_003036.4(SKI):c.1914G>A (p.Lys638=)
|
rs752864137
|
0.00001
|
NM_003036.4(SKI):c.1998+9G>A
|
rs533071160
|
0.00001
|
NM_003036.4(SKI):c.1999-11C>T
|
rs1022360604
|
0.00001
|
NM_003036.4(SKI):c.1999-18C>T
|
rs762184119
|
0.00001
|
NM_003036.4(SKI):c.1999-9C>T
|
rs369496789
|
0.00001
|
NM_003036.4(SKI):c.2052G>T (p.Leu684=)
|
rs1271020892
|
0.00001
|
NM_003036.4(SKI):c.2058C>T (p.Ala686=)
|
rs1171554207
|
0.00001
|
NM_003036.4(SKI):c.2092C>T (p.Leu698=)
|
rs766929334
|
0.00001
|
NM_003036.4(SKI):c.2133G>A (p.Pro711=)
|
rs1640594973
|
0.00001
|
NM_003036.4(SKI):c.2138C>T (p.Ala713Val)
|
rs1160688025
|
0.00001
|
NM_003036.4(SKI):c.2154G>A (p.Ala718=)
|
rs778456446
|
0.00001
|
NM_003036.4(SKI):c.2172G>A (p.Ala724=)
|
rs879070309
|
0.00001
|
NM_003036.4(SKI):c.258G>C (p.Leu86=)
|
rs780679449
|
0.00001
|
NM_003036.4(SKI):c.300C>T (p.Arg100=)
|
rs1286311989
|
0.00001
|
NM_003036.4(SKI):c.324G>A (p.Glu108=)
|
rs201144990
|
0.00001
|
NM_003036.4(SKI):c.330C>T (p.Ile110=)
|
rs764373577
|
0.00001
|
NM_003036.4(SKI):c.405G>T (p.Ser135=)
|
rs769774481
|
0.00001
|
NM_003036.4(SKI):c.438C>T (p.Leu146=)
|
rs371061756
|
0.00001
|
NM_003036.4(SKI):c.480C>T (p.Ile160=)
|
rs952491836
|
0.00001
|
NM_003036.4(SKI):c.498C>T (p.Ile166=)
|
rs768733290
|
0.00001
|
NM_003036.4(SKI):c.553C>T (p.Leu185=)
|
rs753251990
|
0.00001
|
NM_003036.4(SKI):c.611C>T (p.Ala204Val)
|
rs772336192
|
0.00001
|
NM_003036.4(SKI):c.648C>G (p.Arg216=)
|
rs1398417113
|
0.00001
|
NM_003036.4(SKI):c.663C>T (p.Tyr221=)
|
rs762684190
|
0.00001
|
NM_003036.4(SKI):c.691C>T (p.Leu231=)
|
rs1191109372
|
0.00001
|
NM_003036.4(SKI):c.699G>T (p.Val233=)
|
rs1174147537
|
0.00001
|
NM_003036.4(SKI):c.702C>G (p.Pro234=)
|
rs1057523205
|
0.00001
|
NM_003036.4(SKI):c.72C>T (p.Phe24=)
|
rs953342598
|
0.00001
|
NM_003036.4(SKI):c.75C>T (p.His25=)
|
rs1486448334
|
0.00001
|
NM_003036.4(SKI):c.81C>T (p.Ser27=)
|
rs755325222
|
0.00001
|
NM_003036.4(SKI):c.900C>A (p.Leu300=)
|
rs747649658
|
0.00001
|
NM_003036.4(SKI):c.906C>T (p.Arg302=)
|
rs772758586
|
0.00001
|
NM_003036.4(SKI):c.918C>T (p.Asp306=)
|
rs776475482
|
0.00001
|
NM_003036.4(SKI):c.970-10T>C
|
rs750601690
|
0.00001
|
NM_003036.4(SKI):c.970-11A>G
|
rs1640462475
|
0.00001
|
NM_003183.6(ADAM17):c.1068C>T (p.Pro356=)
|
rs750559090
|
0.00001
|
NM_003183.6(ADAM17):c.1083T>C (p.His361=)
|
rs901073220
|
0.00001
|
NM_003183.6(ADAM17):c.1191+8_1191+20del
|
rs780855948
|
0.00001
|
NM_003183.6(ADAM17):c.1203G>C (p.Leu401=)
|
rs757397345
|
0.00001
|
NM_003183.6(ADAM17):c.1404G>A (p.Glu468=)
|
rs1416000636
|
0.00001
|
NM_003183.6(ADAM17):c.1413A>G (p.Gln471=)
|
rs758941402
|
0.00001
|
NM_003183.6(ADAM17):c.1512C>T (p.Ser504=)
|
rs1473249918
|
0.00001
|
NM_003183.6(ADAM17):c.1656C>T (p.Ser552=)
|
rs913944425
|
0.00001
|
NM_003183.6(ADAM17):c.183G>A (p.Gln61=)
|
rs768531855
|
0.00001
|
NM_003183.6(ADAM17):c.192A>G (p.Thr64=)
|
rs760623120
|
0.00001
|
NM_003183.6(ADAM17):c.2031G>A (p.Leu677=)
|
rs759960474
|
0.00001
|
NM_003183.6(ADAM17):c.2133+7A>G
|
rs760627744
|
0.00001
|
NM_003183.6(ADAM17):c.2134-12A>G
|
rs1184205117
|
0.00001
|
NM_003183.6(ADAM17):c.2139C>T (p.Val713=)
|
rs767287511
|
0.00001
|
NM_003183.6(ADAM17):c.2166A>G (p.Ala722=)
|
rs961226647
|
0.00001
|
NM_003183.6(ADAM17):c.230+17A>G
|
rs371770705
|
0.00001
|
NM_003183.6(ADAM17):c.230+9A>G
|
rs375542168
|
0.00001
|
NM_003183.6(ADAM17):c.2319C>T (p.Asp773=)
|
rs376241260
|
0.00001
|
NM_003183.6(ADAM17):c.255A>G (p.Ser85=)
|
rs1270237828
|
0.00001
|
NM_003183.6(ADAM17):c.267T>C (p.Arg89=)
|
rs770087502
|
0.00001
|
NM_003183.6(ADAM17):c.354C>T (p.His118=)
|
rs373534760
|
0.00001
|
NM_003183.6(ADAM17):c.362-11T>C
|
rs1664944582
|
0.00001
|
NM_003183.6(ADAM17):c.516C>A (p.Ile172=)
|
rs1572939240
|
0.00001
|
NM_003183.6(ADAM17):c.654A>G (p.Pro218=)
|
rs755105372
|
0.00001
|
NM_003183.6(ADAM17):c.672G>T (p.Thr224=)
|
rs757777916
|
0.00001
|
NM_003183.6(ADAM17):c.754-6A>G
|
rs757613548
|
0.00001
|
NM_003183.6(ADAM17):c.75C>T (p.Gly25=)
|
rs1427275550
|
0.00001
|
NM_003183.6(ADAM17):c.807T>C (p.Asn269=)
|
rs200972600
|
0.00001
|
NM_003183.6(ADAM17):c.97+17G>C
|
rs756580109
|
0.00001
|
NM_003238.6(TGFB2):c.1057T>G (p.Leu353Val)
|
rs777045186
|
0.00001
|
NM_003238.6(TGFB2):c.1086+20G>C
|
rs201814950
|
0.00001
|
NM_003238.6(TGFB2):c.1095C>T (p.Ser365=)
|
rs748818194
|
0.00001
|
NM_003238.6(TGFB2):c.1098A>G (p.Leu366=)
|
rs931960431
|
0.00001
|
NM_003238.6(TGFB2):c.1122A>T (p.Ala374=)
|
rs1316829320
|
0.00001
|
NM_003238.6(TGFB2):c.126G>A (p.Gly42=)
|
rs1199107727
|
0.00001
|
NM_003238.6(TGFB2):c.261C>T (p.Ala87=)
|
rs746416777
|
0.00001
|
NM_003238.6(TGFB2):c.306G>A (p.Glu102=)
|
rs754502128
|
0.00001
|
NM_003238.6(TGFB2):c.346+20T>A
|
rs1226959859
|
0.00001
|
NM_003238.6(TGFB2):c.369C>T (p.Tyr123=)
|
rs368157039
|
0.00001
|
NM_003238.6(TGFB2):c.40C>T (p.Leu14=)
|
rs1407180803
|
0.00001
|
NM_003238.6(TGFB2):c.609A>G (p.Val203=)
|
rs142588546
|
0.00001
|
NM_003238.6(TGFB2):c.612T>C (p.Thr204=)
|
rs960874816
|
0.00001
|
NM_003238.6(TGFB2):c.918G>A (p.Ala306=)
|
rs767936611
|
0.00001
|
NM_003238.6(TGFB2):c.942G>A (p.Gln314=)
|
rs188801474
|
0.00001
|
NM_003238.6(TGFB2):c.957A>C (p.Leu319=)
|
rs755474865
|
0.00001
|
NM_003239.5(TGFB3):c.1050C>T (p.Tyr350=)
|
rs1386754558
|
0.00001
|
NM_003239.5(TGFB3):c.1137G>A (p.Val379=)
|
rs751480221
|
0.00001
|
NM_003239.5(TGFB3):c.1230A>G (p.Lys410=)
|
rs373100223
|
0.00001
|
NM_003239.5(TGFB3):c.294G>A (p.Ser98=)
|
rs778214495
|
0.00001
|
NM_003239.5(TGFB3):c.339G>A (p.Gly113=)
|
rs886050798
|
0.00001
|
NM_003239.5(TGFB3):c.369C>T (p.Cys123=)
|
rs1457776871
|
0.00001
|
NM_003239.5(TGFB3):c.393T>C (p.Val131=)
|
rs1302391555
|
0.00001
|
NM_003239.5(TGFB3):c.405T>C (p.Asn135=)
|
rs756208950
|
0.00001
|
NM_003239.5(TGFB3):c.420G>A (p.Glu140=)
|
rs878854609
|
0.00001
|
NM_003239.5(TGFB3):c.435C>T (p.Asn145=)
|
rs2035294472
|
0.00001
|
NM_003239.5(TGFB3):c.471C>G (p.Pro157=)
|
rs768917005
|
0.00001
|
NM_003239.5(TGFB3):c.480C>T (p.Ser160=)
|
rs1555360832
|
0.00001
|
NM_003239.5(TGFB3):c.516+14C>T
|
rs757567007
|
0.00001
|
NM_003239.5(TGFB3):c.516+15A>G
|
rs199930875
|
0.00001
|
NM_003239.5(TGFB3):c.534G>A (p.Glu178=)
|
rs148895204
|
0.00001
|
NM_003239.5(TGFB3):c.612C>T (p.Val204=)
|
rs1000679465
|
0.00001
|
NM_003239.5(TGFB3):c.729C>T (p.His243=)
|
rs746620931
|
0.00001
|
NM_003239.5(TGFB3):c.755-20A>C
|
rs747852718
|
0.00001
|
NM_003239.5(TGFB3):c.755-5T>C
|
rs768188445
|
0.00001
|
NM_003239.5(TGFB3):c.75C>T (p.Ser25=)
|
rs773168115
|
0.00001
|
NM_003239.5(TGFB3):c.840C>T (p.Leu280=)
|
rs746293134
|
0.00001
|
NM_003239.5(TGFB3):c.897G>A (p.Lys299=)
|
rs771455698
|
0.00001
|
NM_003239.5(TGFB3):c.900G>C (p.Arg300=)
|
rs761439201
|
0.00001
|
NM_003239.5(TGFB3):c.926+8_926+9del
|
rs1491398509
|
0.00001
|
NM_003239.5(TGFB3):c.927-19T>C
|
rs199714510
|
0.00001
|
NM_003239.5(TGFB3):c.927-4G>A
|
rs201637508
|
0.00001
|
NM_003239.5(TGFB3):c.957C>T (p.Pro319=)
|
rs977821614
|
0.00001
|
NM_003239.5(TGFB3):c.99C>T (p.Gly33=)
|
rs757663439
|
0.00001
|
NM_003242.6(TGFBR2):c.*1285A>T
|
rs574876197
|
0.00001
|
NM_003242.6(TGFBR2):c.1208G>A (p.Arg403His)
|
rs143095746
|
0.00001
|
NM_003243.5(TGFBR3):c.477T>C (p.His159=)
|
rs766091481
|
0.00001
|
NM_003977.4(AIP):c.792C>T (p.Asn264=)
|
rs780707460
|
0.00001
|
NM_003978.5(PSTPIP1):c.1056G>A (p.Glu352=)
|
rs1469732250
|
0.00001
|
NM_003978.5(PSTPIP1):c.1138C>T (p.Leu380=)
|
rs1316450945
|
0.00001
|
NM_003978.5(PSTPIP1):c.1176G>A (p.Gly392=)
|
rs181929438
|
0.00001
|
NM_003978.5(PSTPIP1):c.1179G>A (p.Glu393=)
|
rs1355605205
|
0.00001
|
NM_003978.5(PSTPIP1):c.1218C>T (p.Gly406=)
|
rs377114025
|
0.00001
|
NM_003978.5(PSTPIP1):c.123G>A (p.Glu41=)
|
rs766141606
|
0.00001
|
NM_003978.5(PSTPIP1):c.1248T>C (p.Leu416=)
|
rs556322755
|
0.00001
|
NM_003978.5(PSTPIP1):c.138-6T>C
|
rs765550656
|
0.00001
|
NM_003978.5(PSTPIP1):c.213-10T>C
|
rs746522552
|
0.00001
|
NM_003978.5(PSTPIP1):c.222G>A (p.Arg74=)
|
rs1435290161
|
0.00001
|
NM_003978.5(PSTPIP1):c.248-5C>T
|
rs1266014755
|
0.00001
|
NM_003978.5(PSTPIP1):c.304C>T (p.Leu102=)
|
rs1401702747
|
0.00001
|
NM_003978.5(PSTPIP1):c.363C>T (p.Ala121=)
|
rs1484169330
|
0.00001
|
NM_003978.5(PSTPIP1):c.384G>A (p.Lys128=)
|
rs868533109
|
0.00001
|
NM_003978.5(PSTPIP1):c.426G>A (p.Lys142=)
|
rs760205701
|
0.00001
|
NM_003978.5(PSTPIP1):c.432C>T (p.Tyr144=)
|
rs370003508
|
0.00001
|
NM_003978.5(PSTPIP1):c.450C>T (p.Asp150=)
|
rs758334058
|
0.00001
|
NM_003978.5(PSTPIP1):c.488C>T (p.Ala163Val)
|
rs774530073
|
0.00001
|
NM_003978.5(PSTPIP1):c.516+13G>T
|
rs762824136
|
0.00001
|
NM_003978.5(PSTPIP1):c.563-18G>A
|
rs748783442
|
0.00001
|
NM_003978.5(PSTPIP1):c.575G>A (p.Arg192Lys)
|
rs760587319
|
0.00001
|
NM_003978.5(PSTPIP1):c.576G>A (p.Arg192=)
|
rs766707210
|
0.00001
|
NM_003978.5(PSTPIP1):c.588G>A (p.Ala196=)
|
rs558627384
|
0.00001
|
NM_003978.5(PSTPIP1):c.629G>A (p.Arg210Gln)
|
rs776576205
|
0.00001
|
NM_003978.5(PSTPIP1):c.642+13C>T
|
rs752786501
|
0.00001
|
NM_003978.5(PSTPIP1):c.642+20C>T
|
rs201638707
|
0.00001
|
NM_003978.5(PSTPIP1):c.648T>C (p.Phe216=)
|
rs763249966
|
0.00001
|
NM_003978.5(PSTPIP1):c.675C>T (p.Thr225=)
|
rs770958110
|
0.00001
|
NM_003978.5(PSTPIP1):c.708C>T (p.Asn236=)
|
rs768887430
|
0.00001
|
NM_003978.5(PSTPIP1):c.774C>G (p.Gly258=)
|
rs2076438231
|
0.00001
|
NM_003978.5(PSTPIP1):c.795C>T (p.Ile265=)
|
rs368528834
|
0.00001
|
NM_003978.5(PSTPIP1):c.838+10G>A
|
rs747042572
|
0.00001
|
NM_003978.5(PSTPIP1):c.839-16G>T
|
rs776337082
|
0.00001
|
NM_003978.5(PSTPIP1):c.929+10C>T
|
rs774212289
|
0.00001
|
NM_003978.5(PSTPIP1):c.929+18G>A
|
rs773172907
|
0.00001
|
NM_003978.5(PSTPIP1):c.948C>T (p.His316=)
|
rs1386946850
|
0.00001
|
NM_003978.5(PSTPIP1):c.954T>C (p.Ser318=)
|
rs202234078
|
0.00001
|
NM_003978.5(PSTPIP1):c.985+18G>A
|
rs1404451877
|
0.00001
|
NM_004364.5(CEBPA):c.1020C>A (p.Gly340=)
|
rs1226278699
|
0.00001
|
NM_004364.5(CEBPA):c.1048T>C (p.Leu350=)
|
rs1348854829
|
0.00001
|
NM_004364.5(CEBPA):c.105G>A (p.Arg35=)
|
rs1316909243
|
0.00001
|
NM_004364.5(CEBPA):c.108C>T (p.Gly36=)
|
rs1399064538
|
0.00001
|
NM_004364.5(CEBPA):c.111G>C (p.Ala37=)
|
rs1323312485
|
0.00001
|
NM_004364.5(CEBPA):c.117C>A (p.Pro39=)
|
rs1318381484
|
0.00001
|
NM_004364.5(CEBPA):c.138T>C (p.Pro46=)
|
rs1387400759
|
0.00001
|
NM_004364.5(CEBPA):c.153G>C (p.Pro51=)
|
rs1054442664
|
0.00001
|
NM_004364.5(CEBPA):c.210G>A (p.Pro70=)
|
rs1432277634
|
0.00001
|
NM_004364.5(CEBPA):c.24G>A (p.Glu8=)
|
rs1967204947
|
0.00001
|
NM_004364.5(CEBPA):c.285G>A (p.Val95=)
|
rs1248062306
|
0.00001
|
NM_004364.5(CEBPA):c.288C>T (p.Gly96=)
|
rs919975422
|
0.00001
|
NM_004364.5(CEBPA):c.408C>A (p.Ala136=)
|
rs1265798915
|
0.00001
|
NM_004364.5(CEBPA):c.429G>A (p.Leu143=)
|
rs1429417241
|
0.00001
|
NM_004364.5(CEBPA):c.42G>A (p.Pro14=)
|
rs1967203363
|
0.00001
|
NM_004364.5(CEBPA):c.447C>T (p.Arg149=)
|
rs1967184069
|
0.00001
|
NM_004364.5(CEBPA):c.462G>C (p.Ala154=)
|
rs1481499354
|
0.00001
|
NM_004364.5(CEBPA):c.501G>A (p.Glu167=)
|
rs1277875501
|
0.00001
|
NM_004364.5(CEBPA):c.522G>A (p.Ala174=)
|
rs1272249243
|
0.00001
|
NM_004364.5(CEBPA):c.555G>A (p.Pro185=)
|
rs754400471
|
0.00001
|
NM_004364.5(CEBPA):c.570G>A (p.Ser190=)
|
rs1178690668
|
0.00001
|
NM_004364.5(CEBPA):c.603G>A (p.Leu201=)
|
rs1555742086
|
0.00001
|
NM_004364.5(CEBPA):c.609C>G (p.Ala203=)
|
rs1394828055
|
0.00001
|
NM_004364.5(CEBPA):c.633G>T (p.Ala211=)
|
rs1345901618
|
0.00001
|
NM_004364.5(CEBPA):c.642C>T (p.Gly214=)
|
rs1301372441
|
0.00001
|
NM_004364.5(CEBPA):c.696G>T (p.Val232=)
|
rs1213133617
|
0.00001
|
NM_004364.5(CEBPA):c.705G>T (p.Pro235=)
|
rs1600022049
|
0.00001
|
NM_004364.5(CEBPA):c.762G>A (p.Lys254=)
|
rs1366451304
|
0.00001
|
NM_004364.5(CEBPA):c.780C>T (p.His260=)
|
rs1429055509
|
0.00001
|
NM_004364.5(CEBPA):c.786C>T (p.Asp262=)
|
rs747881336
|
0.00001
|
NM_004364.5(CEBPA):c.822C>T (p.Ala274=)
|
rs1967166737
|
0.00001
|
NM_004364.5(CEBPA):c.837C>T (p.Asp279=)
|
rs1489721042
|
0.00001
|
NM_004364.5(CEBPA):c.861G>A (p.Val287=)
|
rs981299051
|
0.00001
|
NM_004364.5(CEBPA):c.900C>G (p.Arg300=)
|
rs369123206
|
0.00001
|
NM_004364.5(CEBPA):c.966C>T (p.Asp322=)
|
rs903305652
|
0.00001
|
NM_004371.4(COPA):c.1076+7C>T
|
rs761055069
|
0.00001
|
NM_004371.4(COPA):c.1146A>G (p.Arg382=)
|
rs1422572454
|
0.00001
|
NM_004371.4(COPA):c.1220-16G>C
|
rs1658818899
|
0.00001
|
NM_004371.4(COPA):c.1302+10G>A
|
rs899725019
|
0.00001
|
NM_004371.4(COPA):c.1322A>G (p.Lys441Arg)
|
rs755754729
|
0.00001
|
NM_004371.4(COPA):c.1400G>A (p.Arg467Gln)
|
rs773125884
|
0.00001
|
NM_004371.4(COPA):c.1443-5C>T
|
rs1293350299
|
0.00001
|
NM_004371.4(COPA):c.1586G>A (p.Arg529His)
|
rs755234198
|
0.00001
|
NM_004371.4(COPA):c.1618G>A (p.Val540Ile)
|
rs779383710
|
0.00001
|
NM_004371.4(COPA):c.1657G>A (p.Val553Ile)
|
rs76641602
|
0.00001
|
NM_004371.4(COPA):c.1680C>T (p.Ile560=)
|
rs1319923647
|
0.00001
|
NM_004371.4(COPA):c.1757G>A (p.Arg586His)
|
rs145861956
|
0.00001
|
NM_004371.4(COPA):c.1938A>G (p.Lys646=)
|
rs776498850
|
0.00001
|
NM_004371.4(COPA):c.198C>T (p.Phe66=)
|
rs1483173224
|
0.00001
|
NM_004371.4(COPA):c.2263+11G>A
|
rs770169162
|
0.00001
|
NM_004371.4(COPA):c.228+10G>T
|
rs541883856
|
0.00001
|
NM_004371.4(COPA):c.228+18T>G
|
rs1431145451
|
0.00001
|
NM_004371.4(COPA):c.229-13T>C
|
rs1001294693
|
0.00001
|
NM_004371.4(COPA):c.2367C>A (p.Asp789Glu)
|
rs765186480
|
0.00001
|
NM_004371.4(COPA):c.2373T>G (p.Asn791Lys)
|
rs1214197748
|
0.00001
|
NM_004371.4(COPA):c.2379G>C (p.Lys793Asn)
|
rs145664652
|
0.00001
|
NM_004371.4(COPA):c.2493G>A (p.Leu831=)
|
rs1279004438
|
0.00001
|
NM_004371.4(COPA):c.2503A>G (p.Ile835Val)
|
rs775283020
|
0.00001
|
NM_004371.4(COPA):c.251G>A (p.Arg84His)
|
rs1252870201
|
0.00001
|
NM_004371.4(COPA):c.2557T>C (p.Leu853=)
|
rs755004879
|
0.00001
|
NM_004371.4(COPA):c.2566+11T>C
|
rs370504756
|
0.00001
|
NM_004371.4(COPA):c.2725C>T (p.Pro909Ser)
|
rs764620128
|
0.00001
|
NM_004371.4(COPA):c.2808C>T (p.Phe936=)
|
rs760354732
|
0.00001
|
NM_004371.4(COPA):c.2809G>A (p.Glu937Lys)
|
rs552778606
|
0.00001
|
NM_004371.4(COPA):c.2824-10T>C
|
rs368409747
|
0.00001
|
NM_004371.4(COPA):c.2890G>A (p.Ala964Thr)
|
rs781560092
|
0.00001
|
NM_004371.4(COPA):c.2961-15C>T
|
rs751391110
|
0.00001
|
NM_004371.4(COPA):c.296C>T (p.Thr99Met)
|
rs765391058
|
0.00001
|
NM_004371.4(COPA):c.2993C>T (p.Ala998Val)
|
rs761919408
|
0.00001
|
NM_004371.4(COPA):c.309+14G>T
|
rs776134249
|
0.00001
|
NM_004371.4(COPA):c.312A>G (p.Glu104=)
|
rs757452633
|
0.00001
|
NM_004371.4(COPA):c.3140T>C (p.Ile1047Thr)
|
rs780158500
|
0.00001
|
NM_004371.4(COPA):c.3147+14G>C
|
rs374900234
|
0.00001
|
NM_004371.4(COPA):c.3332T>G (p.Leu1111Arg)
|
rs759108773
|
0.00001
|
NM_004371.4(COPA):c.3396G>T (p.Gly1132=)
|
rs1557859300
|
0.00001
|
NM_004371.4(COPA):c.3420+9A>C
|
rs1386437476
|
0.00001
|
NM_004371.4(COPA):c.3433C>T (p.Leu1145=)
|
rs747075563
|
0.00001
|
NM_004371.4(COPA):c.386+20G>A
|
rs774834775
|
0.00001
|
NM_004371.4(COPA):c.528G>A (p.Ala176=)
|
rs760365945
|
0.00001
|
NM_004371.4(COPA):c.567A>G (p.Leu189=)
|
rs1380264793
|
0.00001
|
NM_004371.4(COPA):c.612C>T (p.His204=)
|
rs988192269
|
0.00001
|
NM_004371.4(COPA):c.6A>G (p.Leu2=)
|
rs945664160
|
0.00001
|
NM_004371.4(COPA):c.717A>T (p.Ala239=)
|
rs751279338
|
0.00001
|
NM_004371.4(COPA):c.816T>C (p.Ser272=)
|
rs1037485892
|
0.00001
|
NM_004371.4(COPA):c.842+16G>C
|
rs1490882090
|
0.00001
|
NM_004371.4(COPA):c.858T>C (p.Thr286=)
|
rs545516258
|
0.00001
|
NM_004371.4(COPA):c.873T>C (p.His291=)
|
rs967404182
|
0.00001
|
NM_004371.4(COPA):c.894T>C (p.Ala298=)
|
rs1251965012
|
0.00001
|
NM_004371.4(COPA):c.99C>T (p.Ile33=)
|
rs781526871
|
0.00001
|
NM_004612.4(TGFBR1):c.*789G>A
|
rs200428927
|
0.00001
|
NM_004944.4(DNASE1L3):c.320+17C>A
|
rs376951611
|
0.00001
|
NM_005373.3(MPL):c.1053C>T (p.Arg351=)
|
rs753608517
|
0.00001
|
NM_005373.3(MPL):c.1119T>C (p.Gly373=)
|
rs748581599
|
0.00001
|
NM_005373.3(MPL):c.1140C>G (p.Gly380=)
|
rs745697567
|
0.00001
|
NM_005373.3(MPL):c.1165+10T>C
|
rs1392500587
|
0.00001
|
NM_005373.3(MPL):c.1165+8C>A
|
rs760520500
|
0.00001
|
NM_005373.3(MPL):c.1166-4G>A
|
rs753315546
|
0.00001
|
NM_005373.3(MPL):c.1242G>A (p.Ser414=)
|
rs544064034
|
0.00001
|
NM_005373.3(MPL):c.1353G>A (p.Leu451=)
|
rs1218597246
|
0.00001
|
NM_005373.3(MPL):c.1443T>C (p.Thr481=)
|
rs769867816
|
0.00001
|
NM_005373.3(MPL):c.1455C>A (p.Thr485=)
|
rs1420201893
|
0.00001
|
NM_005373.3(MPL):c.1468+8A>G
|
rs1221843249
|
0.00001
|
NM_005373.3(MPL):c.1469-10T>C
|
rs756761741
|
0.00001
|
NM_005373.3(MPL):c.1554T>G (p.Pro518=)
|
rs756010427
|
0.00001
|
NM_005373.3(MPL):c.1566-8T>C
|
rs1037232039
|
0.00001
|
NM_005373.3(MPL):c.1605G>T (p.Leu535=)
|
rs371286903
|
0.00001
|
NM_005373.3(MPL):c.1704T>C (p.Leu568=)
|
rs1428589548
|
0.00001
|
NM_005373.3(MPL):c.1731G>A (p.Arg577=)
|
rs1297298234
|
0.00001
|
NM_005373.3(MPL):c.174G>A (p.Ala58=)
|
rs141077413
|
0.00001
|
NM_005373.3(MPL):c.1773C>T (p.Tyr591=)
|
rs752177268
|
0.00001
|
NM_005373.3(MPL):c.231C>T (p.Cys77=)
|
rs747378368
|
0.00001
|
NM_005373.3(MPL):c.237G>C (p.Leu79=)
|
rs769101640
|
0.00001
|
NM_005373.3(MPL):c.273C>T (p.Tyr91=)
|
rs759361904
|
0.00001
|
NM_005373.3(MPL):c.391+7G>A
|
rs201738900
|
0.00001
|
NM_005373.3(MPL):c.468G>A (p.Glu156=)
|
rs747175671
|
0.00001
|
NM_005373.3(MPL):c.513T>C (p.Tyr171=)
|
rs971985422
|
0.00001
|
NM_005373.3(MPL):c.519C>T (p.Pro173=)
|
rs1384608430
|
0.00001
|
NM_005373.3(MPL):c.534C>T (p.Asn178=)
|
rs1473089822
|
0.00001
|
NM_005373.3(MPL):c.618G>C (p.Leu206=)
|
rs1334230054
|
0.00001
|
NM_005373.3(MPL):c.750C>T (p.Asn250=)
|
rs753703546
|
0.00001
|
NM_005373.3(MPL):c.795C>T (p.Leu265=)
|
rs774771300
|
0.00001
|
NM_005373.3(MPL):c.840G>A (p.Leu280=)
|
rs1313119276
|
0.00001
|
NM_005373.3(MPL):c.853+10C>A
|
rs1341584081
|
0.00001
|
NM_005373.3(MPL):c.854-10T>C
|
rs771241328
|
0.00001
|
NM_005373.3(MPL):c.936A>G (p.Gln312=)
|
rs1647022428
|
0.00001
|
NM_005373.3(MPL):c.972C>T (p.Pro324=)
|
rs1010774862
|
0.00001
|
NM_005373.3(MPL):c.984C>T (p.Tyr328=)
|
rs1174825503
|
0.00001
|
NM_005529.7(HSPG2):c.6105G>A (p.Gln2035=)
|
rs371397998
|
0.00001
|
NM_005902.3(SMAD3):c.*4658T>C
|
rs548318946
|
0.00001
|
NM_005902.4(SMAD3):c.206+11G>T
|
rs763321881
|
0.00001
|
NM_005902.4(SMAD3):c.658+15G>C
|
rs1296574345
|
0.00001
|
NM_006397.3(RNASEH2A):c.132C>T (p.Pro44=)
|
rs752762157
|
0.00001
|
NM_006397.3(RNASEH2A):c.199+18G>C
|
rs992561670
|
0.00001
|
NM_006397.3(RNASEH2A):c.200-19C>T
|
rs753801448
|
0.00001
|
NM_006397.3(RNASEH2A):c.222C>T (p.Ser74=)
|
rs891089016
|
0.00001
|
NM_006397.3(RNASEH2A):c.258G>A (p.Thr86=)
|
rs1414753414
|
0.00001
|
NM_006397.3(RNASEH2A):c.267C>T (p.Val89=)
|
rs765310821
|
0.00001
|
NM_006397.3(RNASEH2A):c.275C>T (p.Ala92Val)
|
rs562864527
|
0.00001
|
NM_006397.3(RNASEH2A):c.285G>A (p.Val95=)
|
rs374650162
|
0.00001
|
NM_006397.3(RNASEH2A):c.396C>T (p.Gly132=)
|
rs1360201052
|
0.00001
|
NM_006397.3(RNASEH2A):c.405C>T (p.Val135=)
|
rs1164184621
|
0.00001
|
NM_006397.3(RNASEH2A):c.411+19G>T
|
rs758134473
|
0.00001
|
NM_006397.3(RNASEH2A):c.412-15C>T
|
rs745955556
|
0.00001
|
NM_006397.3(RNASEH2A):c.516C>T (p.Tyr172=)
|
rs1415211346
|
0.00001
|
NM_006397.3(RNASEH2A):c.549+7A>G
|
rs765467499
|
0.00001
|
NM_006397.3(RNASEH2A):c.550-13G>C
|
rs560268310
|
0.00001
|
NM_006397.3(RNASEH2A):c.561C>T (p.Asp187=)
|
rs757010668
|
0.00001
|
NM_006397.3(RNASEH2A):c.576A>G (p.Lys192=)
|
rs770200744
|
0.00001
|
NM_006397.3(RNASEH2A):c.585C>T (p.Phe195=)
|
rs372984331
|
0.00001
|
NM_006397.3(RNASEH2A):c.637+20T>C
|
rs778278707
|
0.00001
|
NM_006397.3(RNASEH2A):c.637+8G>A
|
rs757139110
|
0.00001
|
NM_006397.3(RNASEH2A):c.638-19A>G
|
rs758113011
|
0.00001
|
NM_006397.3(RNASEH2A):c.654G>A (p.Ala218=)
|
rs779317641
|
0.00001
|
NM_006397.3(RNASEH2A):c.669C>T (p.His223=)
|
rs531859310
|
0.00001
|
NM_006397.3(RNASEH2A):c.761+15T>G
|
rs773058733
|
0.00001
|
NM_006397.3(RNASEH2A):c.762-13C>G
|
rs781591228
|
0.00001
|
NM_012275.3(IL36RN):c.102G>A (p.Gly34=)
|
rs941319736
|
0.00001
|
NM_012275.3(IL36RN):c.228G>A (p.Pro76=)
|
rs774906497
|
0.00001
|
NM_012275.3(IL36RN):c.291C>T (p.Ser97=)
|
rs1573387667
|
0.00001
|
NM_012275.3(IL36RN):c.333C>T (p.Phe111=)
|
rs199824136
|
0.00001
|
NM_012275.3(IL36RN):c.375T>C (p.Pro125=)
|
rs775413713
|
0.00001
|
NM_012275.3(IL36RN):c.381C>T (p.Ala127=)
|
rs760489144
|
0.00001
|
NM_012275.3(IL36RN):c.411C>T (p.Pro137=)
|
rs765211863
|
0.00001
|
NM_012275.3(IL36RN):c.75G>A (p.Gln25=)
|
rs1348538791
|
0.00001
|
NM_015474.4(SAMHD1):c.1125A>G (p.Gln375=)
|
rs201876333
|
0.00001
|
NM_015474.4(SAMHD1):c.1154+9C>T
|
rs377745198
|
0.00001
|
NM_015474.4(SAMHD1):c.120C>T (p.Pro40=)
|
rs1164431300
|
0.00001
|
NM_015474.4(SAMHD1):c.1257T>C (p.Tyr419=)
|
rs1441301586
|
0.00001
|
NM_015474.4(SAMHD1):c.126C>T (p.Tyr42=)
|
rs754233641
|
0.00001
|
NM_015474.4(SAMHD1):c.1270+17A>G
|
rs2063437409
|
0.00001
|
NM_015474.4(SAMHD1):c.1350C>T (p.Tyr450=)
|
rs537446646
|
0.00001
|
NM_015474.4(SAMHD1):c.1368T>C (p.Tyr456=)
|
rs769561543
|
0.00001
|
NM_015474.4(SAMHD1):c.1380G>A (p.Thr460=)
|
rs544083526
|
0.00001
|
NM_015474.4(SAMHD1):c.144G>A (p.Glu48=)
|
rs140157384
|
0.00001
|
NM_015474.4(SAMHD1):c.1455C>G (p.Pro485=)
|
rs879334178
|
0.00001
|
NM_015474.4(SAMHD1):c.1503+16A>G
|
rs1287287488
|
0.00001
|
NM_015474.4(SAMHD1):c.1518T>C (p.Asp506=)
|
rs1300340729
|
0.00001
|
NM_015474.4(SAMHD1):c.153C>T (p.Cys51=)
|
rs774247016
|
0.00001
|
NM_015474.4(SAMHD1):c.1609-17C>A
|
rs1260090439
|
0.00001
|
NM_015474.4(SAMHD1):c.1725C>T (p.Asp575=)
|
rs1448113794
|
0.00001
|
NM_015474.4(SAMHD1):c.1749T>C (p.Asp583=)
|
rs150658755
|
0.00001
|
NM_015474.4(SAMHD1):c.1752C>T (p.Gly584=)
|
rs753611896
|
0.00001
|
NM_015474.4(SAMHD1):c.1767A>G (p.Pro589=)
|
rs1449037659
|
0.00001
|
NM_015474.4(SAMHD1):c.204C>T (p.Ile68=)
|
rs2063733926
|
0.00001
|
NM_015474.4(SAMHD1):c.208+16G>A
|
rs778400853
|
0.00001
|
NM_015474.4(SAMHD1):c.275+15A>C
|
rs2063688866
|
0.00001
|
NM_015474.4(SAMHD1):c.288G>A (p.Glu96=)
|
rs780159863
|
0.00001
|
NM_015474.4(SAMHD1):c.300G>A (p.Leu100=)
|
rs1045346655
|
0.00001
|
NM_015474.4(SAMHD1):c.333C>T (p.His111=)
|
rs1396545191
|
0.00001
|
NM_015474.4(SAMHD1):c.348+9A>T
|
rs2063640460
|
0.00001
|
NM_015474.4(SAMHD1):c.396C>T (p.Leu132=)
|
rs1216724127
|
0.00001
|
NM_015474.4(SAMHD1):c.448C>T (p.Leu150=)
|
rs1404231193
|
0.00001
|
NM_015474.4(SAMHD1):c.510-17G>A
|
rs1555835836
|
0.00001
|
NM_015474.4(SAMHD1):c.510-7T>C
|
rs1033373260
|
0.00001
|
NM_015474.4(SAMHD1):c.513G>T (p.Val171=)
|
rs903077482
|
0.00001
|
NM_015474.4(SAMHD1):c.537T>A (p.Val179=)
|
rs749581263
|
0.00001
|
NM_015474.4(SAMHD1):c.546G>A (p.Leu182=)
|
rs748150321
|
0.00001
|
NM_015474.4(SAMHD1):c.567G>A (p.Leu189=)
|
rs947611800
|
0.00001
|
NM_015474.4(SAMHD1):c.57G>A (p.Pro19=)
|
rs1032186742
|
0.00001
|
NM_015474.4(SAMHD1):c.626-5T>C
|
rs768848252
|
0.00001
|
NM_015474.4(SAMHD1):c.626-9G>C
|
rs1371988530
|
0.00001
|
NM_015474.4(SAMHD1):c.63C>T (p.Thr21=)
|
rs775849448
|
0.00001
|
NM_015474.4(SAMHD1):c.681G>A (p.Pro227=)
|
rs144587056
|
0.00001
|
NM_015474.4(SAMHD1):c.786A>G (p.Glu262=)
|
rs1195297197
|
0.00001
|
NM_015474.4(SAMHD1):c.840C>T (p.Val280=)
|
rs17853622
|
0.00001
|
NM_015474.4(SAMHD1):c.9A>G (p.Arg3=)
|
rs1568788547
|
0.00001
|
NM_015922.3(NSDHL):c.612C>T (p.Phe204=)
|
rs782252634
|
0.00001
|
NM_017617.5(NOTCH1):c.1977C>A (p.Ile659=)
|
rs766577980
|
0.00001
|
NM_017617.5(NOTCH1):c.4719G>A (p.Thr1573=)
|
rs775105774
|
0.00001
|
NM_017617.5(NOTCH1):c.5168-5C>T
|
rs757370134
|
0.00001
|
NM_017617.5(NOTCH1):c.6227C>T (p.Thr2076Ile)
|
rs1022510242
|
0.00001
|
NM_017617.5(NOTCH1):c.6758C>T (p.Pro2253Leu)
|
rs1204397173
|
0.00001
|
NM_020800.3(IFT80):c.1499A>G (p.Glu500Gly)
|
rs554335278
|
0.00001
|
NM_020800.3(IFT80):c.639+5A>G
|
rs527856744
|
0.00001
|
NM_022168.4(IFIH1):c.102C>T (p.Tyr34=)
|
rs1018613688
|
0.00001
|
NM_022168.4(IFIH1):c.1095+8A>G
|
rs896477290
|
0.00001
|
NM_022168.4(IFIH1):c.1096-19A>G
|
rs767226768
|
0.00001
|
NM_022168.4(IFIH1):c.1101G>C (p.Leu367=)
|
rs180798633
|
0.00001
|
NM_022168.4(IFIH1):c.1137A>G (p.Pro379=)
|
rs1176282403
|
0.00001
|
NM_022168.4(IFIH1):c.11G>A (p.Gly4Glu)
|
rs1558879403
|
0.00001
|
NM_022168.4(IFIH1):c.1212C>A (p.Val404=)
|
rs201130067
|
0.00001
|
NM_022168.4(IFIH1):c.1293T>A (p.Gly431=)
|
rs1682826273
|
0.00001
|
NM_022168.4(IFIH1):c.1358T>G (p.Val453Gly)
|
rs558005930
|
0.00001
|
NM_022168.4(IFIH1):c.1365T>C (p.Asn455=)
|
rs1451687083
|
0.00001
|
NM_022168.4(IFIH1):c.1525-10T>C
|
rs373610275
|
0.00001
|
NM_022168.4(IFIH1):c.1525-4C>T
|
rs147768128
|
0.00001
|
NM_022168.4(IFIH1):c.1572C>T (p.Asn524=)
|
rs1190078586
|
0.00001
|
NM_022168.4(IFIH1):c.1620C>G (p.Ala540=)
|
rs1428640918
|
0.00001
|
NM_022168.4(IFIH1):c.1641+19A>G
|
rs758898063
|
0.00001
|
NM_022168.4(IFIH1):c.1708A>G (p.Met570Val)
|
rs761723156
|
0.00001
|
NM_022168.4(IFIH1):c.1737A>G (p.Glu579=)
|
rs1389431088
|
0.00001
|
NM_022168.4(IFIH1):c.1745C>T (p.Ala582Val)
|
rs889262310
|
0.00001
|
NM_022168.4(IFIH1):c.1765+9G>A
|
rs139661131
|
0.00001
|
NM_022168.4(IFIH1):c.1855A>G (p.Met619Val)
|
rs375482697
|
0.00001
|
NM_022168.4(IFIH1):c.1909A>G (p.Lys637Glu)
|
rs746002371
|
0.00001
|
NM_022168.4(IFIH1):c.1932T>C (p.Asp644=)
|
rs754771732
|
0.00001
|
NM_022168.4(IFIH1):c.1950T>C (p.Asp650=)
|
rs141001536
|
0.00001
|
NM_022168.4(IFIH1):c.1960T>G (p.Cys654Gly)
|
rs987124852
|
0.00001
|
NM_022168.4(IFIH1):c.1967G>T (p.Gly656Val)
|
rs146300062
|
0.00001
|
NM_022168.4(IFIH1):c.2069T>C (p.Leu690Pro)
|
rs189782013
|
0.00001
|
NM_022168.4(IFIH1):c.219T>C (p.Leu73=)
|
rs1683544691
|
0.00001
|
NM_022168.4(IFIH1):c.2256C>T (p.His752=)
|
rs1487834990
|
0.00001
|
NM_022168.4(IFIH1):c.2293C>T (p.Pro765Ser)
|
rs1474738840
|
0.00001
|
NM_022168.4(IFIH1):c.230G>A (p.Arg77Gln)
|
rs367851471
|
0.00001
|
NM_022168.4(IFIH1):c.2313A>G (p.Gln771=)
|
rs764896652
|
0.00001
|
NM_022168.4(IFIH1):c.2397A>G (p.Lys799=)
|
rs1246805569
|
0.00001
|
NM_022168.4(IFIH1):c.2416C>T (p.Arg806Cys)
|
rs144341455
|
0.00001
|
NM_022168.4(IFIH1):c.2443G>C (p.Ala815Pro)
|
rs745774513
|
0.00001
|
NM_022168.4(IFIH1):c.2455-8G>A
|
rs1444002660
|
0.00001
|
NM_022168.4(IFIH1):c.2490C>T (p.Tyr830=)
|
rs535643698
|
0.00001
|
NM_022168.4(IFIH1):c.2493C>T (p.Val831=)
|
rs1304689008
|
0.00001
|
NM_022168.4(IFIH1):c.2506A>G (p.Ser836Gly)
|
rs777051409
|
0.00001
|
NM_022168.4(IFIH1):c.2573T>C (p.Ile858Thr)
|
rs373490708
|
0.00001
|
NM_022168.4(IFIH1):c.2604G>A (p.Glu868=)
|
rs760907862
|
0.00001
|
NM_022168.4(IFIH1):c.2645T>C (p.Met882Thr)
|
rs770497457
|
0.00001
|
NM_022168.4(IFIH1):c.2652G>A (p.Lys884=)
|
rs907133393
|
0.00001
|
NM_022168.4(IFIH1):c.2664C>G (p.Thr888=)
|
rs756574133
|
0.00001
|
NM_022168.4(IFIH1):c.2697C>G (p.Asn899Lys)
|
rs763492910
|
0.00001
|
NM_022168.4(IFIH1):c.2733T>C (p.Ser911=)
|
rs767453829
|
0.00001
|
NM_022168.4(IFIH1):c.2741C>T (p.Ala914Val)
|
rs759356432
|
0.00001
|
NM_022168.4(IFIH1):c.2751G>T (p.Gly917=)
|
rs145750310
|
0.00001
|
NM_022168.4(IFIH1):c.2768T>C (p.Ile923Thr)
|
rs748620268
|
0.00001
|
NM_022168.4(IFIH1):c.2808-16C>T
|
rs1265758166
|
0.00001
|
NM_022168.4(IFIH1):c.285G>C (p.Met95Ile)
|
rs748006043
|
0.00001
|
NM_022168.4(IFIH1):c.2898+14T>C
|
rs374527462
|
0.00001
|
NM_022168.4(IFIH1):c.2937G>A (p.Leu979=)
|
rs372007025
|
0.00001
|
NM_022168.4(IFIH1):c.3006G>A (p.Lys1002=)
|
rs776754156
|
0.00001
|
NM_022168.4(IFIH1):c.300G>C (p.Thr100=)
|
rs1280391598
|
0.00001
|
NM_022168.4(IFIH1):c.301G>C (p.Asp101His)
|
rs1576243308
|
0.00001
|
NM_022168.4(IFIH1):c.3036T>A (p.Asn1012Lys)
|
rs528639734
|
0.00001
|
NM_022168.4(IFIH1):c.453+8T>A
|
rs748372514
|
0.00001
|
NM_022168.4(IFIH1):c.454-11T>C
|
rs1198189984
|
0.00001
|
NM_022168.4(IFIH1):c.462T>G (p.Ala154=)
|
rs1048962898
|
0.00001
|
NM_022168.4(IFIH1):c.463G>A (p.Ala155Thr)
|
rs999278334
|
0.00001
|
NM_022168.4(IFIH1):c.505A>T (p.Lys169Ter)
|
rs201495678
|
0.00001
|
NM_022168.4(IFIH1):c.529T>C (p.Trp177Arg)
|
rs762589074
|
0.00001
|
NM_022168.4(IFIH1):c.622+18G>C
|
rs766097141
|
0.00001
|
NM_022168.4(IFIH1):c.623-17A>G
|
rs984112552
|
0.00001
|
NM_022168.4(IFIH1):c.660G>C (p.Val220=)
|
rs368515897
|
0.00001
|
NM_022168.4(IFIH1):c.75C>T (p.Tyr25=)
|
rs1459082313
|
0.00001
|
NM_022168.4(IFIH1):c.874+19G>A
|
rs755833923
|
0.00001
|
NM_022168.4(IFIH1):c.966G>A (p.Gly322=)
|
rs1414537811
|
0.00001
|
NM_023110.3(FGFR1):c.1185C>T (p.Ile395=)
|
rs756104594
|
0.00001
|
NM_023110.3(FGFR1):c.1308C>T (p.Ser436=)
|
rs546318124
|
0.00001
|
NM_023110.3(FGFR1):c.1978-13G>A
|
rs761708658
|
0.00001
|
NM_023110.3(FGFR1):c.1978-16C>T
|
rs764971696
|
0.00001
|
NM_023110.3(FGFR1):c.2058C>T (p.Phe686=)
|
rs1193961883
|
0.00001
|
NM_023110.3(FGFR1):c.2271C>T (p.Ile757=)
|
rs369782405
|
0.00001
|
NM_024408.4(NOTCH2):c.1032C>T (p.Phe344=)
|
rs782702694
|
0.00001
|
NM_024408.4(NOTCH2):c.1134A>G (p.Ala378=)
|
rs782178170
|
0.00001
|
NM_024408.4(NOTCH2):c.1245T>C (p.Asp415=)
|
rs782057759
|
0.00001
|
NM_024408.4(NOTCH2):c.1248G>A (p.Val416=)
|
rs374135765
|
0.00001
|
NM_024408.4(NOTCH2):c.1567+18G>C
|
rs1651135776
|
0.00001
|
NM_024408.4(NOTCH2):c.1791C>T (p.Pro597=)
|
rs781999109
|
0.00001
|
NM_024408.4(NOTCH2):c.2026+6G>T
|
rs587731563
|
0.00001
|
NM_024408.4(NOTCH2):c.2133A>C (p.Gly711=)
|
rs1378692712
|
0.00001
|
NM_024408.4(NOTCH2):c.2295A>G (p.Pro765=)
|
rs139358772
|
0.00001
|
NM_024408.4(NOTCH2):c.2436T>C (p.Asp812=)
|
rs782136077
|
0.00001
|
NM_024408.4(NOTCH2):c.2578T>C (p.Leu860=)
|
rs200524116
|
0.00001
|
NM_024408.4(NOTCH2):c.3102C>T (p.Cys1034=)
|
rs782517126
|
0.00001
|
NM_024408.4(NOTCH2):c.3228T>C (p.Gly1076=)
|
rs781988393
|
0.00001
|
NM_024408.4(NOTCH2):c.3246A>G (p.Lys1082=)
|
rs782319639
|
0.00001
|
NM_024408.4(NOTCH2):c.3252G>A (p.Glu1084=)
|
rs372751663
|
0.00001
|
NM_024408.4(NOTCH2):c.3447A>G (p.Gln1149=)
|
rs1649894606
|
0.00001
|
NM_024408.4(NOTCH2):c.3561A>G (p.Glu1187=)
|
rs1553195636
|
0.00001
|
NM_024408.4(NOTCH2):c.3798C>T (p.Asn1266=)
|
rs1553194807
|
0.00001
|
NM_024408.4(NOTCH2):c.4228C>T (p.Arg1410Cys)
|
rs145799900
|
0.00001
|
NM_024408.4(NOTCH2):c.4511+7G>T
|
rs778914409
|
0.00001
|
NM_024408.4(NOTCH2):c.4605T>C (p.Ala1535=)
|
rs1649373756
|
0.00001
|
NM_024408.4(NOTCH2):c.4677C>T (p.Leu1559=)
|
rs756529497
|
0.00001
|
NM_024408.4(NOTCH2):c.5310+13T>C
|
rs1472609269
|
0.00001
|
NM_024408.4(NOTCH2):c.5479+9C>T
|
rs759713592
|
0.00001
|
NM_024408.4(NOTCH2):c.5500T>C (p.Leu1834=)
|
rs750507344
|
0.00001
|
NM_024408.4(NOTCH2):c.5782-10C>T
|
rs1220746088
|
0.00001
|
NM_024408.4(NOTCH2):c.6027+14G>T
|
rs766834643
|
0.00001
|
NM_024408.4(NOTCH2):c.6222C>T (p.Thr2074=)
|
rs764335447
|
0.00001
|
NM_024408.4(NOTCH2):c.6270T>G (p.Ser2090=)
|
rs747743815
|
0.00001
|
NM_024408.4(NOTCH2):c.6423G>C (p.Leu2141=)
|
rs778180468
|
0.00001
|
NM_024408.4(NOTCH2):c.6516C>T (p.Ser2172=)
|
rs587733506
|
0.00001
|
NM_024408.4(NOTCH2):c.6673C>T (p.Leu2225=)
|
rs1314464356
|
0.00001
|
NM_024408.4(NOTCH2):c.7199G>A (p.Arg2400Gln)
|
rs587654671
|
0.00001
|
NM_024408.4(NOTCH2):c.7368G>A (p.Gly2456=)
|
rs759456867
|
0.00001
|
NM_024408.4(NOTCH2):c.855C>T (p.Arg285=)
|
rs1553202291
|
0.00001
|
NM_024529.5(CDC73):c.*3063G>A
|
rs182545034
|
0.00001
|
NM_024529.5(CDC73):c.1011C>T (p.Ala337=)
|
rs372567546
|
0.00001
|
NM_024529.5(CDC73):c.1551A>G (p.Thr517=)
|
rs752668844
|
0.00001
|
NM_024529.5(CDC73):c.1559+20A>G
|
rs1281829953
|
0.00001
|
NM_024529.5(CDC73):c.280C>T (p.Leu94=)
|
rs747811573
|
0.00001
|
NM_024529.5(CDC73):c.315G>A (p.Ser105=)
|
rs771258964
|
0.00001
|
NM_024529.5(CDC73):c.370+17A>G
|
rs760583012
|
0.00001
|
NM_024529.5(CDC73):c.519G>A (p.Leu173=)
|
rs749039338
|
0.00001
|
NM_024529.5(CDC73):c.730-14C>G
|
rs183077646
|
0.00001
|
NM_024570.4(RNASEH2B):c.102G>A (p.Gly34=)
|
rs764270783
|
0.00001
|
NM_024570.4(RNASEH2B):c.129C>A (p.Pro43=)
|
rs199839728
|
0.00001
|
NM_024570.4(RNASEH2B):c.136+8C>T
|
rs891972892
|
0.00001
|
NM_024570.4(RNASEH2B):c.137-15G>T
|
rs1406636563
|
0.00001
|
NM_024570.4(RNASEH2B):c.183T>C (p.Phe61=)
|
rs368589166
|
0.00001
|
NM_024570.4(RNASEH2B):c.244+7G>A
|
rs1593458121
|
0.00001
|
NM_024570.4(RNASEH2B):c.300C>T (p.Tyr100=)
|
rs1467684524
|
0.00001
|
NM_024570.4(RNASEH2B):c.321+13C>T
|
rs758688261
|
0.00001
|
NM_024570.4(RNASEH2B):c.321+15C>T
|
rs372703323
|
0.00001
|
NM_024570.4(RNASEH2B):c.321+16G>A
|
rs1490426503
|
0.00001
|
NM_024570.4(RNASEH2B):c.387G>A (p.Leu129=)
|
rs756682554
|
0.00001
|
NM_024570.4(RNASEH2B):c.39C>T (p.Ala13=)
|
rs571566229
|
0.00001
|
NM_024570.4(RNASEH2B):c.510+18T>C
|
rs765819204
|
0.00001
|
NM_024570.4(RNASEH2B):c.616+16T>C
|
rs1329814638
|
0.00001
|
NM_024570.4(RNASEH2B):c.894T>C (p.Asp298=)
|
rs1593481878
|
0.00001
|
NM_024570.4(RNASEH2B):c.895A>G (p.Thr299Ala)
|
rs370507842
|
0.00001
|
NM_024570.4(RNASEH2B):c.897C>A (p.Thr299=)
|
rs886050291
|
0.00001
|
NM_024570.4(RNASEH2B):c.933G>A (p.Lys311=)
|
rs951129269
|
0.00001
|
NM_030777.4(SLC2A10):c.1032C>T (p.Asp344=)
|
rs1301992983
|
0.00001
|
NM_030777.4(SLC2A10):c.1110T>C (p.Thr370=)
|
rs760859018
|
0.00001
|
NM_030777.4(SLC2A10):c.1187C>T (p.Pro396Leu)
|
rs755654519
|
0.00001
|
NM_030777.4(SLC2A10):c.120T>C (p.Phe40=)
|
rs202176956
|
0.00001
|
NM_030777.4(SLC2A10):c.1233C>T (p.Thr411=)
|
rs778452693
|
0.00001
|
NM_030777.4(SLC2A10):c.1269C>T (p.Phe423=)
|
rs1057524067
|
0.00001
|
NM_030777.4(SLC2A10):c.1305C>T (p.Leu435=)
|
rs201159437
|
0.00001
|
NM_030777.4(SLC2A10):c.1371G>A (p.Ala457=)
|
rs558894862
|
0.00001
|
NM_030777.4(SLC2A10):c.1411+12C>T
|
rs762576278
|
0.00001
|
NM_030777.4(SLC2A10):c.1437C>T (p.Phe479=)
|
rs1457956300
|
0.00001
|
NM_030777.4(SLC2A10):c.1455C>T (p.Thr485=)
|
rs1285063741
|
0.00001
|
NM_030777.4(SLC2A10):c.1497A>G (p.Glu499=)
|
rs780076629
|
0.00001
|
NM_030777.4(SLC2A10):c.1518A>G (p.Ala506=)
|
rs548796220
|
0.00001
|
NM_030777.4(SLC2A10):c.180C>T (p.Leu60=)
|
rs371988251
|
0.00001
|
NM_030777.4(SLC2A10):c.195T>A (p.Gly65=)
|
rs1002286842
|
0.00001
|
NM_030777.4(SLC2A10):c.252G>A (p.Val84=)
|
rs878855129
|
0.00001
|
NM_030777.4(SLC2A10):c.264C>G (p.Gly88=)
|
rs768512276
|
0.00001
|
NM_030777.4(SLC2A10):c.432C>T (p.Thr144=)
|
rs371344477
|
0.00001
|
NM_030777.4(SLC2A10):c.633G>A (p.Pro211=)
|
rs770919957
|
0.00001
|
NM_030777.4(SLC2A10):c.666C>T (p.Phe222=)
|
rs776448517
|
0.00001
|
NM_030777.4(SLC2A10):c.681C>T (p.Asn227=)
|
rs201625851
|
0.00001
|
NM_030777.4(SLC2A10):c.720C>A (p.Leu240=)
|
rs374985824
|
0.00001
|
NM_030777.4(SLC2A10):c.810G>C (p.Val270=)
|
rs774452914
|
0.00001
|
NM_030777.4(SLC2A10):c.858C>T (p.Thr286=)
|
rs758420381
|
0.00001
|
NM_030777.4(SLC2A10):c.861C>G (p.Ala287=)
|
rs747254570
|
0.00001
|
NM_030777.4(SLC2A10):c.873G>A (p.Val291=)
|
rs755197578
|
0.00001
|
NM_030777.4(SLC2A10):c.960C>T (p.Ala320=)
|
rs369162285
|
0.00001
|
NM_030777.4(SLC2A10):c.9C>T (p.His3=)
|
rs1423610543
|
0.00001
|
NM_031229.4(RBCK1):c.1030-11T>C
|
rs1347263782
|
0.00001
|
NM_031229.4(RBCK1):c.1068G>T (p.Leu356=)
|
rs1244813118
|
0.00001
|
NM_031229.4(RBCK1):c.1209+17C>T
|
rs2016795068
|
0.00001
|
NM_031229.4(RBCK1):c.1272C>T (p.Asn424=)
|
rs370138905
|
0.00001
|
NM_031229.4(RBCK1):c.1309-18G>C
|
rs1031466010
|
0.00001
|
NM_031229.4(RBCK1):c.1326C>T (p.Gly442=)
|
rs1437187965
|
0.00001
|
NM_031229.4(RBCK1):c.1395C>T (p.Cys465=)
|
rs762116740
|
0.00001
|
NM_031229.4(RBCK1):c.1410C>T (p.Thr470=)
|
rs369912362
|
0.00001
|
NM_031229.4(RBCK1):c.1452+14C>T
|
rs1465505607
|
0.00001
|
NM_031229.4(RBCK1):c.1452+15G>A
|
rs569310074
|
0.00001
|
NM_031229.4(RBCK1):c.171G>A (p.Leu57=)
|
rs539510245
|
0.00001
|
NM_031229.4(RBCK1):c.333G>A (p.Gln111=)
|
rs758405216
|
0.00001
|
NM_031229.4(RBCK1):c.477C>T (p.Asp159=)
|
rs1301599917
|
0.00001
|
NM_031229.4(RBCK1):c.603G>A (p.Gly201=)
|
rs1206906907
|
0.00001
|
NM_031229.4(RBCK1):c.609C>T (p.Thr203=)
|
rs2016242054
|
0.00001
|
NM_031229.4(RBCK1):c.757-6G>T
|
rs1391498500
|
0.00001
|
NM_031229.4(RBCK1):c.876C>T (p.Gly292=)
|
rs767353266
|
0.00001
|
NM_031229.4(RBCK1):c.906C>T (p.His302=)
|
rs1273262609
|
0.00001
|
NM_031229.4(RBCK1):c.917+19C>T
|
rs1473845806
|
0.00001
|
NM_031229.4(RBCK1):c.987C>G (p.Thr329=)
|
rs778332884
|
0.00001
|
NM_032193.4(RNASEH2C):c.126C>T (p.Ala42=)
|
rs1324205598
|
0.00001
|
NM_032193.4(RNASEH2C):c.172+17G>C
|
rs746988112
|
0.00001
|
NM_032193.4(RNASEH2C):c.173-14G>A
|
rs886048502
|
0.00001
|
NM_032193.4(RNASEH2C):c.190C>A (p.Arg64=)
|
rs760270515
|
0.00001
|
NM_032193.4(RNASEH2C):c.336G>A (p.Leu112=)
|
rs762686846
|
0.00001
|
NM_032193.4(RNASEH2C):c.348+19T>C
|
rs755524049
|
0.00001
|
NM_032193.4(RNASEH2C):c.399T>A (p.Gly133=)
|
rs752570194
|
0.00001
|
NM_032193.4(RNASEH2C):c.39C>T (p.Arg13=)
|
rs1335036466
|
0.00001
|
NM_032193.4(RNASEH2C):c.468+16G>A
|
rs1332044735
|
0.00001
|
NM_032193.4(RNASEH2C):c.468+17T>C
|
rs777249456
|
0.00001
|
NM_032193.4(RNASEH2C):c.468+18T>C
|
rs774537118
|
0.00001
|
NM_032193.4(RNASEH2C):c.489G>A (p.Glu163=)
|
rs373524507
|
0.00001
|
NM_032193.4(RNASEH2C):c.78C>T (p.Pro26=)
|
rs1419001598
|
0.00001
|
NM_033629.6(TREX1):c.138C>T (p.Ser46=)
|
rs895463771
|
0.00001
|
NM_033629.6(TREX1):c.282G>A (p.Ala94=)
|
rs374854957
|
0.00001
|
NM_033629.6(TREX1):c.294A>G (p.Gln98=)
|
rs2040339926
|
0.00001
|
NM_033629.6(TREX1):c.417T>C (p.Ala139=)
|
rs561010257
|
0.00001
|
NM_033629.6(TREX1):c.429C>T (p.Leu143=)
|
rs1300401892
|
0.00001
|
NM_033629.6(TREX1):c.459G>A (p.Val153=)
|
rs901216260
|
0.00001
|
NM_033629.6(TREX1):c.474G>A (p.Ala158=)
|
rs373876183
|
0.00001
|
NM_033629.6(TREX1):c.477G>A (p.Leu159=)
|
rs376018168
|
0.00001
|
NM_033629.6(TREX1):c.501C>T (p.Ser167=)
|
rs149789575
|
0.00001
|
NM_033629.6(TREX1):c.522G>A (p.Arg174=)
|
rs1310282311
|
0.00001
|
NM_033629.6(TREX1):c.543C>T (p.Ser181=)
|
rs948439253
|
0.00001
|
NM_033629.6(TREX1):c.582G>A (p.Ser194=)
|
rs747560892
|
0.00001
|
NM_033629.6(TREX1):c.588G>A (p.Thr196=)
|
rs781221615
|
0.00001
|
NM_033629.6(TREX1):c.627G>A (p.Gln209=)
|
rs748970378
|
0.00001
|
NM_033629.6(TREX1):c.690G>A (p.Arg230=)
|
rs55691060
|
0.00001
|
NM_033629.6(TREX1):c.81C>G (p.Ser27=)
|
rs1308074815
|
0.00001
|
NM_033629.6(TREX1):c.828G>A (p.Val276=)
|
rs149654159
|
0.00001
|
NM_033629.6(TREX1):c.846A>G (p.Leu282=)
|
rs374232562
|
0.00001
|
NM_033629.6(TREX1):c.885C>T (p.Ala295=)
|
rs775937744
|
0.00001
|
NM_033629.6(TREX1):c.9G>A (p.Ser3=)
|
rs762687506
|
0.00001
|
NM_053025.4(MYLK):c.3832-4C>T
|
rs778116028
|
0.00001
|
NM_053025.4(MYLK):c.4308G>A (p.Glu1436=)
|
rs1442217314
|
0.00001
|
NM_053025.4(MYLK):c.5238+12G>T
|
rs200918890
|
0.00001
|
NM_053025.4(MYLK):c.593A>G (p.Asn198Ser)
|
rs201835018
|
0.00001
|
NM_053025.4(MYLK):c.672C>T (p.Asn224=)
|
rs941148082
|
0.00001
|
NM_053025.4(MYLK):c.800C>A (p.Thr267Asn)
|
rs755451013
|
0.00001
|
NM_054027.6(ANKH):c.1304C>T (p.Ala435Val)
|
rs761698657
|
0.00001
|
NM_054027.6(ANKH):c.39G>C (p.Leu13=)
|
rs748751320
|
0.00001
|
NM_058172.6(ANTXR2):c.*5425G>A
|
rs568935269
|
0.00001
|
NM_080680.3(COL11A2):c.1284+8G>A
|
rs1161495896
|
0.00001
|
NM_080680.3(COL11A2):c.2589A>C (p.Thr863=)
|
rs1398934546
|
0.00001
|
NM_080680.3(COL11A2):c.3475-19G>A
|
rs755564454
|
0.00001
|
NM_144687.4(NLRP12):c.1035G>A (p.Thr345=)
|
rs770310990
|
0.00001
|
NM_144687.4(NLRP12):c.1035G>T (p.Thr345=)
|
rs770310990
|
0.00001
|
NM_144687.4(NLRP12):c.1060C>G (p.Leu354Val)
|
rs1435117815
|
0.00001
|
NM_144687.4(NLRP12):c.1281G>A (p.Thr427=)
|
rs528087095
|
0.00001
|
NM_144687.4(NLRP12):c.1317G>C (p.Leu439=)
|
rs368381958
|
0.00001
|
NM_144687.4(NLRP12):c.1386C>T (p.Cys462=)
|
rs1369275354
|
0.00001
|
NM_144687.4(NLRP12):c.1404G>C (p.Gly468=)
|
rs1031177834
|
0.00001
|
NM_144687.4(NLRP12):c.1425A>G (p.Leu475=)
|
rs199475865
|
0.00001
|
NM_144687.4(NLRP12):c.1582C>T (p.Leu528=)
|
rs985148828
|
0.00001
|
NM_144687.4(NLRP12):c.1620C>T (p.Asp540=)
|
rs753008165
|
0.00001
|
NM_144687.4(NLRP12):c.1638C>T (p.Thr546=)
|
rs762831332
|
0.00001
|
NM_144687.4(NLRP12):c.1704C>T (p.Asn568=)
|
rs758740079
|
0.00001
|
NM_144687.4(NLRP12):c.1746G>A (p.Lys582=)
|
rs1282022845
|
0.00001
|
NM_144687.4(NLRP12):c.1752G>C (p.Ser584=)
|
rs769227978
|
0.00001
|
NM_144687.4(NLRP12):c.1827C>G (p.Gly609=)
|
rs757126292
|
0.00001
|
NM_144687.4(NLRP12):c.2043C>T (p.Ser681=)
|
rs141711127
|
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.2245C>T (p.Leu749=)
|
rs749382014
|
0.00001
|
NM_144687.4(NLRP12):c.2253G>A (p.Arg751=)
|
rs747968386
|
0.00001
|
NM_144687.4(NLRP12):c.2414+13C>A
|
rs770001437
|
0.00001
|
NM_144687.4(NLRP12):c.2414+17G>A
|
rs199476243
|
0.00001
|
NM_144687.4(NLRP12):c.2439C>T (p.Ser813=)
|
rs199475870
|
0.00001
|
NM_144687.4(NLRP12):c.2535G>A (p.Arg845=)
|
rs780537274
|
0.00001
|
NM_144687.4(NLRP12):c.2667G>T (p.Leu889=)
|
rs747630531
|
0.00001
|
NM_144687.4(NLRP12):c.267A>G (p.Gly89=)
|
rs1555800224
|
0.00001
|
NM_144687.4(NLRP12):c.2736G>A (p.Thr912=)
|
rs372372169
|
0.00001
|
NM_144687.4(NLRP12):c.2841C>T (p.Asp947=)
|
rs767842026
|
0.00001
|
NM_144687.4(NLRP12):c.285G>A (p.Val95=)
|
rs775913577
|
0.00001
|
NM_144687.4(NLRP12):c.289+14G>A
|
rs777899039
|
0.00001
|
NM_144687.4(NLRP12):c.2927+10G>A
|
rs759672572
|
0.00001
|
NM_144687.4(NLRP12):c.2952C>T (p.Ala984=)
|
rs1487798891
|
0.00001
|
NM_144687.4(NLRP12):c.3099-20A>G
|
rs758357980
|
0.00001
|
NM_144687.4(NLRP12):c.370+16T>C
|
rs569374243
|
0.00001
|
NM_144687.4(NLRP12):c.439C>T (p.Leu147=)
|
rs1427695443
|
0.00001
|
NM_144687.4(NLRP12):c.630G>A (p.Pro210=)
|
rs775052581
|
0.00001
|
NM_144687.4(NLRP12):c.654G>A (p.Ala218=)
|
rs745766441
|
0.00001
|
NM_144687.4(NLRP12):c.66T>C (p.Ala22=)
|
rs376521503
|
0.00001
|
NM_144687.4(NLRP12):c.678G>A (p.Leu226=)
|
rs752154220
|
0.00001
|
NM_144687.4(NLRP12):c.72A>G (p.Glu24=)
|
rs751381269
|
0.00001
|
NM_144687.4(NLRP12):c.861G>A (p.Glu287=)
|
rs765562062
|
0.00001
|
NM_144687.4(NLRP12):c.900G>A (p.Lys300=)
|
rs1247545271
|
0.00001
|
NM_148919.4(PSMB8):c.148-17C>G
|
rs1770037473
|
0.00001
|
NM_148919.4(PSMB8):c.296-15T>C
|
rs1224334453
|
0.00001
|
NM_148919.4(PSMB8):c.393G>A (p.Leu131=)
|
rs1769991379
|
0.00001
|
NM_148919.4(PSMB8):c.407+7G>A
|
rs1020393626
|
0.00001
|
NM_148919.4(PSMB8):c.538-10C>T
|
rs923980627
|
0.00001
|
NM_148919.4(PSMB8):c.624C>T (p.Tyr208=)
|
rs200137729
|
0.00001
|
NM_148919.4(PSMB8):c.686G>A (p.Arg229His)
|
rs547653681
|
0.00001
|
NM_148919.4(PSMB8):c.756G>A (p.Lys252=)
|
rs200016893
|
0.00001
|
NM_173841.3(IL1RN):c.11-16A>C
|
rs747837384
|
0.00001
|
NM_173841.3(IL1RN):c.66C>T (p.Asp22=)
|
rs760885026
|
0.00001
|
NM_173841.3(IL1RN):c.73+10T>C
|
rs745408148
|
0.00001
|
NM_173842.3(IL1RN):c.108A>G (p.Gln36=)
|
rs144691672
|
0.00001
|
NM_173842.3(IL1RN):c.156C>T (p.Asn52=)
|
rs1022748861
|
0.00001
|
NM_173842.3(IL1RN):c.186A>G (p.Gly62=)
|
rs545976021
|
0.00001
|
NM_173842.3(IL1RN):c.192T>C (p.Asn64=)
|
rs146473306
|
0.00001
|
NM_173842.3(IL1RN):c.206-4C>G
|
rs759542463
|
0.00001
|
NM_173842.3(IL1RN):c.336C>T (p.Asp112=)
|
rs751937390
|
0.00001
|
NM_173842.3(IL1RN):c.342C>T (p.Ser114=)
|
rs368859169
|
0.00001
|
NM_173842.3(IL1RN):c.366C>T (p.Arg122=)
|
rs139208403
|
0.00001
|
NM_173842.3(IL1RN):c.417C>T (p.Ala139=)
|
rs55640833
|
0.00001
|
NM_173842.3(IL1RN):c.426C>T (p.Pro142=)
|
rs761311365
|
0.00001
|
NM_173842.3(IL1RN):c.528C>T (p.Asp176=)
|
rs192597507
|
0.00001
|
NM_198253.3(TERT):c.3303G>A (p.Thr1101=)
|
rs551516320
|
0.00001
|
NM_198253.3(TERT):c.375C>T (p.Asn125=)
|
rs1751256209
|
0.00001
|
NM_198253.3(TERT):c.729C>T (p.Ala243=)
|
rs762491880
|
0.00001
|
NM_198282.4(STING1):c.1110G>A (p.Lys370=)
|
rs766506666
|
0.00001
|
NM_198282.4(STING1):c.228-5C>T
|
rs1425370273
|
0.00001
|
NM_198282.4(STING1):c.288G>A (p.Gly96=)
|
rs143115208
|
0.00001
|
NM_198282.4(STING1):c.345G>A (p.Pro115=)
|
rs780783675
|
0.00001
|
NM_198282.4(STING1):c.381G>A (p.Ser127=)
|
rs757686770
|
0.00001
|
NM_198282.4(STING1):c.40A>C (p.Arg14=)
|
rs761439213
|
0.00001
|
NM_198282.4(STING1):c.462C>T (p.Asn154=)
|
rs138074216
|
0.00001
|
NM_198282.4(STING1):c.585C>T (p.Ser195=)
|
rs1038007276
|
0.00001
|
NM_198282.4(STING1):c.759+14G>A
|
rs1189084716
|
0.00001
|
NM_198282.4(STING1):c.760-13T>C
|
rs1357142936
|
0.00001
|
NM_198282.4(STING1):c.763G>A (p.Gly255Ser)
|
rs368419459
|
0.00001
|
NM_198282.4(STING1):c.877C>T (p.Arg293Trp)
|
rs756770138
|
0.00001
|
NM_198282.4(STING1):c.879G>A (p.Arg293=)
|
rs1302904360
|
0.00001
|
NM_198282.4(STING1):c.885T>A (p.Leu295=)
|
rs768075396
|
0.00001
|
NM_198282.4(STING1):c.946+6G>T
|
rs768799195
|
0.00001
|
NM_198282.4(STING1):c.975G>A (p.Leu325=)
|
rs1393425615
|
0.00001
|
NM_207122.2(EXT2):c.1003T>C (p.Leu335=)
|
rs766467969
|
0.00001
|
NM_207122.2(EXT2):c.1173+18G>A
|
rs760436963
|
0.00001
|
NM_207122.2(EXT2):c.1180T>G (p.Trp394Gly)
|
rs769052712
|
0.00001
|
NM_207122.2(EXT2):c.1208T>C (p.Ile403Thr)
|
rs530523884
|
0.00001
|
NM_207122.2(EXT2):c.1231C>T (p.Leu411=)
|
rs914948841
|
0.00001
|
NM_207122.2(EXT2):c.1305+12C>G
|
rs767006996
|
0.00001
|
NM_207122.2(EXT2):c.1518G>T (p.Arg506=)
|
rs747230848
|
0.00001
|
NM_207122.2(EXT2):c.1974A>G (p.Thr658=)
|
rs1319948823
|
0.00001
|
NM_207122.2(EXT2):c.211C>T (p.Leu71=)
|
rs766800368
|
0.00001
|
NM_207122.2(EXT2):c.2136C>T (p.Phe712=)
|
rs575302404
|
0.00001
|
NM_207122.2(EXT2):c.219C>T (p.Ala73=)
|
rs774620075
|
0.00001
|
NM_207122.2(EXT2):c.246T>C (p.Asp82=)
|
rs559280035
|
0.00001
|
NM_207122.2(EXT2):c.252T>C (p.Ser84=)
|
rs1463030663
|
0.00001
|
NM_207122.2(EXT2):c.267G>A (p.Thr89=)
|
rs1386417457
|
0.00001
|
NM_207122.2(EXT2):c.408C>T (p.Ala136=)
|
rs777178095
|
0.00001
|
NM_207122.2(EXT2):c.537-19A>G
|
rs764148237
|
0.00001
|
NM_207122.2(EXT2):c.678C>T (p.Tyr226=)
|
rs1406801697
|
0.00001
|
NM_207122.2(EXT2):c.744-11T>A
|
rs754484381
|
0.00001
|
NM_207122.2(EXT2):c.753A>G (p.Gln251=)
|
rs1310756667
|
0.00001
|
NM_207122.2(EXT2):c.936A>G (p.Leu312=)
|
rs760218623
|
0.00001
|
NM_207122.2(EXT2):c.940-9T>C
|
rs374555467
|
0.00001
|
NM_207122.2(EXT2):c.9G>A (p.Ala3=)
|
rs774142487
|
0.00001
|
NM_212482.4(FN1):c.548-10T>C
|
rs1407477861
|
0.00001
|
NM_000038.6(APC):c.422+10C>G
|
rs899376835
|
|
NM_000038.6(APC):c.423-4del
|
rs730881230
|
|
NM_000038.6(APC):c.423-4dup
|
rs730881230
|
|
NM_000038.6(APC):c.5265_5268delinsATCG (p.Ala1755_Ser1756=)
|
rs1554086584
|
|
NM_000047.3(ARSL):c.-14GA[4]
|
rs200332753
|
|
NM_000081.4(LYST):c.11268-17dup
|
rs36014994
|
|
NM_000088.4(COL1A1):c.21C>G (p.Leu7=)
|
rs760612687
|
|
NM_000088.4(COL1A1):c.2422C>A (p.Pro808Thr)
|
rs1215940390
|
|
NM_000089.4(COL1A2):c.96+13T>C
|
rs1554394649
|
|
NM_000090.4(COL3A1):c.1815+16C>T
|
rs1559057656
|
|
NM_000090.4(COL3A1):c.528+12T>C
|
rs1057523141
|
|
NM_000093.5(COL5A1):c.4446+14C>T
|
rs1564481400
|
|
NM_000093.5(COL5A1):c.4515C>T (p.Leu1505=)
|
rs764114280
|
|
NM_000093.5(COL5A1):c.514G>T (p.Val172Phe)
|
rs150147262
|
|
NM_000095.3(COMP):c.768C>A (p.Ala256=)
|
rs369897902
|
|
NM_000127.3(EXT1):c.1038A>G (p.Arg346=)
|
rs2129791072
|
|
NM_000127.3(EXT1):c.1050T>G (p.Ala350=)
|
rs751521449
|
|
NM_000127.3(EXT1):c.1101A>G (p.Pro367=)
|
|
|
NM_000127.3(EXT1):c.1134C>T (p.Ala378=)
|
|
|
NM_000127.3(EXT1):c.1137C>T (p.Val379=)
|
|
|
NM_000127.3(EXT1):c.1164+15G>A
|
|
|
NM_000127.3(EXT1):c.1165-4A>G
|
|
|
NM_000127.3(EXT1):c.1231T>C (p.Leu411=)
|
|
|
NM_000127.3(EXT1):c.1239G>A (p.Glu413=)
|
rs756701753
|
|
NM_000127.3(EXT1):c.1263G>A (p.Lys421=)
|
rs2129772013
|
|
NM_000127.3(EXT1):c.1269A>G (p.Val423=)
|
|
|
NM_000127.3(EXT1):c.1284+12del
|
|
|
NM_000127.3(EXT1):c.1284+20T>C
|
|
|
NM_000127.3(EXT1):c.1284+7G>A
|
|
|
NM_000127.3(EXT1):c.1285-6T>G
|
|
|
NM_000127.3(EXT1):c.1297A>C (p.Arg433=)
|
rs1037557280
|
|
NM_000127.3(EXT1):c.1368A>G (p.Pro456=)
|
|
|
NM_000127.3(EXT1):c.1383T>C (p.Tyr461=)
|
|
|
NM_000127.3(EXT1):c.1417+16C>T
|
|
|
NM_000127.3(EXT1):c.1417+19G>C
|
|
|
NM_000127.3(EXT1):c.1418-13C>T
|
|
|
NM_000127.3(EXT1):c.1418-13_1418-11del
|
rs1203626052
|
|
NM_000127.3(EXT1):c.1418-20T>C
|
rs376258820
|
|
NM_000127.3(EXT1):c.1418-7A>G
|
|
|
NM_000127.3(EXT1):c.1418-8T>G
|
|
|
NM_000127.3(EXT1):c.141C>T (p.His47=)
|
|
|
NM_000127.3(EXT1):c.1425G>A (p.Lys475=)
|
rs1442814688
|
|
NM_000127.3(EXT1):c.1458G>A (p.Ala486=)
|
rs765275156
|
|
NM_000127.3(EXT1):c.147C>T (p.Pro49=)
|
rs1248782526
|
|
NM_000127.3(EXT1):c.1503C>T (p.Leu501=)
|
rs146108006
|
|
NM_000127.3(EXT1):c.1515C>A (p.Ala505=)
|
rs2129740778
|
|
NM_000127.3(EXT1):c.1536+11A>G
|
|
|
NM_000127.3(EXT1):c.153G>A (p.Pro51=)
|
|
|
NM_000127.3(EXT1):c.1599T>C (p.Ala533=)
|
|
|
NM_000127.3(EXT1):c.1611C>T (p.Val537=)
|
|
|
NM_000127.3(EXT1):c.1632+10G>A
|
|
|
NM_000127.3(EXT1):c.1632+16G>A
|
|
|
NM_000127.3(EXT1):c.1632+16G>C
|
|
|
NM_000127.3(EXT1):c.1632+9C>A
|
rs368634215
|
|
NM_000127.3(EXT1):c.1633-14C>G
|
|
|
NM_000127.3(EXT1):c.1633-15T>A
|
|
|
NM_000127.3(EXT1):c.1633-16T>C
|
|
|
NM_000127.3(EXT1):c.1635T>G (p.Val545=)
|
|
|
NM_000127.3(EXT1):c.166C>G (p.Pro56Ala)
|
rs368004125
|
|
NM_000127.3(EXT1):c.1677C>T (p.Asp559=)
|
rs752594306
|
|
NM_000127.3(EXT1):c.1722+11A>G
|
|
|
NM_000127.3(EXT1):c.1723-17T>A
|
rs2129702062
|
|
NM_000127.3(EXT1):c.1731C>T (p.Phe577=)
|
|
|
NM_000127.3(EXT1):c.1842C>T (p.Asn614=)
|
|
|
NM_000127.3(EXT1):c.1845C>T (p.Asp615=)
|
rs2129701116
|
|
NM_000127.3(EXT1):c.1848C>T (p.Tyr616=)
|
|
|
NM_000127.3(EXT1):c.1872T>C (p.Ala624=)
|
rs1823251633
|
|
NM_000127.3(EXT1):c.1883+14A>T
|
|
|
NM_000127.3(EXT1):c.1887T>C (p.Tyr629=)
|
rs1823215215
|
|
NM_000127.3(EXT1):c.1944A>G (p.Gln648=)
|
|
|
NM_000127.3(EXT1):c.1945T>C (p.Leu649=)
|
|
|
NM_000127.3(EXT1):c.1983G>A (p.Val661=)
|
rs962526270
|
|
NM_000127.3(EXT1):c.1998A>G (p.Lys666=)
|
|
|
NM_000127.3(EXT1):c.2016G>A (p.Val672=)
|
|
|
NM_000127.3(EXT1):c.2043A>T (p.Thr681=)
|
rs746481404
|
|
NM_000127.3(EXT1):c.2055+10G>A
|
|
|
NM_000127.3(EXT1):c.2055+20del
|
|
|
NM_000127.3(EXT1):c.2056-14C>G
|
|
|
NM_000127.3(EXT1):c.2056-14C>T
|
rs759290391
|
|
NM_000127.3(EXT1):c.2067T>G (p.Ala689=)
|
|
|
NM_000127.3(EXT1):c.2079T>C (p.Ala693=)
|
|
|
NM_000127.3(EXT1):c.211T>C (p.Leu71=)
|
|
|
NM_000127.3(EXT1):c.2179G>A (p.Val727Ile)
|
|
|
NM_000127.3(EXT1):c.2199C>T (p.Val733=)
|
rs201230140
|
|
NM_000127.3(EXT1):c.240T>C (p.Ile80=)
|
|
|
NM_000127.3(EXT1):c.243C>A (p.Ser81=)
|
rs916118962
|
|
NM_000127.3(EXT1):c.315T>C (p.Asp105=)
|
|
|
NM_000127.3(EXT1):c.384C>G (p.Ala128=)
|
|
|
NM_000127.3(EXT1):c.414C>T (p.Ile138=)
|
|
|
NM_000127.3(EXT1):c.423C>T (p.Ser141=)
|
rs2130043533
|
|
NM_000127.3(EXT1):c.441C>T (p.Asp147=)
|
|
|
NM_000127.3(EXT1):c.453G>C (p.Ala151=)
|
rs780843781
|
|
NM_000127.3(EXT1):c.465C>T (p.Val155=)
|
|
|
NM_000127.3(EXT1):c.528C>G (p.Ser176=)
|
|
|
NM_000127.3(EXT1):c.558T>C (p.Asn186=)
|
rs1817877428
|
|
NM_000127.3(EXT1):c.582T>C (p.Asn194=)
|
|
|
NM_000127.3(EXT1):c.615G>A (p.Glu205=)
|
|
|
NM_000127.3(EXT1):c.648G>A (p.Leu216=)
|
rs2130042468
|
|
NM_000127.3(EXT1):c.663C>T (p.Ile221=)
|
|
|
NM_000127.3(EXT1):c.678C>T (p.Phe226=)
|
|
|
NM_000127.3(EXT1):c.726C>T (p.Pro242=)
|
|
|
NM_000127.3(EXT1):c.765C>G (p.Thr255=)
|
|
|
NM_000127.3(EXT1):c.774T>A (p.Pro258=)
|
|
|
NM_000127.3(EXT1):c.783G>A (p.Lys261=)
|
|
|
NM_000127.3(EXT1):c.792G>A (p.Leu264=)
|
|
|
NM_000127.3(EXT1):c.844G>A (p.Ala282Thr)
|
|
|
NM_000127.3(EXT1):c.855C>T (p.His285=)
|
|
|
NM_000127.3(EXT1):c.962+17del
|
|
|
NM_000127.3(EXT1):c.962+18C>T
|
|
|
NM_000127.3(EXT1):c.962+7G>A
|
rs778490814
|
|
NM_000127.3(EXT1):c.963-13C>T
|
|
|
NM_000127.3(EXT1):c.963-14T>G
|
|
|
NM_000127.3(EXT1):c.963-15C>T
|
|
|
NM_000127.3(EXT1):c.963-7dup
|
rs2129791582
|
|
NM_000127.3(EXT1):c.969T>C (p.Asp323=)
|
|
|
NM_000127.3(EXT1):c.96G>A (p.Arg32=)
|
|
|
NM_000127.3(EXT1):c.978A>G (p.Glu326=)
|
rs2129791475
|
|
NM_000138.5(FBN1):c.*1950dup
|
rs535798341
|
|
NM_000138.5(FBN1):c.*960del
|
rs527621676
|
|
NM_000138.5(FBN1):c.*967C>T
|
rs56024388
|
|
NM_000138.5(FBN1):c.-35C>T
|
rs199781948
|
|
NM_000138.5(FBN1):c.102G>C (p.Val34=)
|
|
|
NM_000138.5(FBN1):c.1032C>T (p.Arg344=)
|
rs2141336180
|
|
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NM_000138.5(FBN1):c.1147+19A>G
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NM_000138.5(FBN1):c.1148-6T>C
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NM_000138.5(FBN1):c.1164G>T (p.Leu388=)
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NM_000138.5(FBN1):c.1175C>G (p.Pro392Arg)
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NM_000138.5(FBN1):c.1200A>G (p.Glu400=)
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NM_000138.5(FBN1):c.1211C>A (p.Pro404Gln)
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rs779930519
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NM_000138.5(FBN1):c.1211C>G (p.Pro404Arg)
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NM_000138.5(FBN1):c.1211C>T (p.Pro404Leu)
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rs779930519
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NM_000138.5(FBN1):c.1239C>T (p.Leu413=)
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NM_000138.5(FBN1):c.1278G>A (p.Pro426=)
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NM_000138.5(FBN1):c.1286G>A (p.Arg429Gln)
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NM_000138.5(FBN1):c.1286G>T (p.Arg429Leu)
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NM_000138.5(FBN1):c.1305G>A (p.Leu435=)
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NM_000138.5(FBN1):c.1327+7A>G
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NM_000138.5(FBN1):c.1335G>T (p.Leu445=)
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NM_000138.5(FBN1):c.135A>G (p.Arg45=)
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NM_000138.5(FBN1):c.1461G>A (p.Glu487=)
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NM_000138.5(FBN1):c.1468+12A>G
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NM_000138.5(FBN1):c.1468+12A>T
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NM_000138.5(FBN1):c.1468+19G>A
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NM_000138.5(FBN1):c.1469-14A>T
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NM_000138.5(FBN1):c.1476T>C (p.Asp492=)
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NM_000138.5(FBN1):c.1506T>C (p.Gly502=)
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NM_000138.5(FBN1):c.1524G>A (p.Gln508=)
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NM_000138.5(FBN1):c.1530G>A (p.Ser510=)
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rs147511977
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NM_000138.5(FBN1):c.1530G>T (p.Ser510=)
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NM_000138.5(FBN1):c.1536C>T (p.Thr512=)
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NM_000138.5(FBN1):c.1542G>A (p.Gln514=)
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NM_000138.5(FBN1):c.1560G>A (p.Gln520=)
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NM_000138.5(FBN1):c.1566A>T (p.Thr522=)
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rs531264662
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NM_000138.5(FBN1):c.1588+10T>G
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rs761924614
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NM_000138.5(FBN1):c.1588+16C>T
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NM_000138.5(FBN1):c.1588+20C>A
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NM_000138.5(FBN1):c.1588+20C>G
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NM_000138.5(FBN1):c.1588+9C>G
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rs757843637
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NM_000138.5(FBN1):c.1589-20T>G
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NM_000138.5(FBN1):c.1589-5T>C
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rs1371798538
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NM_000138.5(FBN1):c.1589-7A>T
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rs1467162544
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NM_000138.5(FBN1):c.1589-8G>T
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rs779629563
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NM_000138.5(FBN1):c.1599G>A (p.Glu533=)
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NM_000138.5(FBN1):c.1614C>T (p.Gly538=)
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rs2141323481
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NM_000138.5(FBN1):c.1616G>A (p.Arg539Gln)
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NM_000138.5(FBN1):c.1625A>G (p.Asn542Ser)
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rs963564435
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NM_000138.5(FBN1):c.164+13G>T
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NM_000138.5(FBN1):c.164+16C>T
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NM_000138.5(FBN1):c.1641C>A (p.Ile547=)
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rs2141323402
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NM_000138.5(FBN1):c.165-8T>G
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rs750029122
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NM_000138.5(FBN1):c.1662T>C (p.His554=)
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NM_000138.5(FBN1):c.1674T>C (p.Asn558=)
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NM_000138.5(FBN1):c.1714+11T>C
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NM_000138.5(FBN1):c.1714+13T>A
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NM_000138.5(FBN1):c.1714+14A>G
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NM_000138.5(FBN1):c.1714+7A>G
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NM_000138.5(FBN1):c.1715-10G>A
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NM_000138.5(FBN1):c.1715-15G>A
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NM_000138.5(FBN1):c.1715-17A>G
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NM_000138.5(FBN1):c.1715-8A>G
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rs1555399978
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NM_000138.5(FBN1):c.1715-9T>A
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NM_000138.5(FBN1):c.1715-9T>C
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NM_000138.5(FBN1):c.1732A>G (p.Ile578Val)
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NM_000138.5(FBN1):c.1761T>C (p.Cys587=)
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rs1060504143
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NM_000138.5(FBN1):c.1791T>C (p.Ile597=)
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NM_000138.5(FBN1):c.1815A>G (p.Ala605=)
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NM_000138.5(FBN1):c.1830T>C (p.Tyr610=)
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rs1247219658
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NM_000138.5(FBN1):c.1837+12A>G
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NM_000138.5(FBN1):c.1838-17G>A
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NM_000138.5(FBN1):c.1838-17G>T
|
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NM_000138.5(FBN1):c.192T>C (p.Asn64=)
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NM_000138.5(FBN1):c.1940T>C (p.Leu647Pro)
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rs1566913983
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NM_000138.5(FBN1):c.1947C>T (p.Gly649=)
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rs2141317155
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NM_000138.5(FBN1):c.195T>C (p.Ala65=)
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rs759873157
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NM_000138.5(FBN1):c.1960+14A>G
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NM_000138.5(FBN1):c.1960+15T>C
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NM_000138.5(FBN1):c.1960+9A>G
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NM_000138.5(FBN1):c.1961-18A>G
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NM_000138.5(FBN1):c.1961-5T>C
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rs919746497
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NM_000138.5(FBN1):c.1962C>T (p.Asp654=)
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NM_000138.5(FBN1):c.1980A>G (p.Thr660=)
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rs531454879
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NM_000138.5(FBN1):c.198C>T (p.Tyr66=)
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rs2044669179
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NM_000138.5(FBN1):c.1992A>C (p.Gly664=)
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NM_000138.5(FBN1):c.1998G>A (p.Lys666=)
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NM_000138.5(FBN1):c.2004C>T (p.Gly668=)
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NM_000138.5(FBN1):c.2007G>A (p.Gln669=)
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NM_000138.5(FBN1):c.2022G>A (p.Leu674=)
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NM_000138.5(FBN1):c.2031T>C (p.Ala677=)
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NM_000138.5(FBN1):c.2067G>A (p.Glu689=)
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NM_000138.5(FBN1):c.2085T>C (p.Pro695=)
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rs2141315721
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NM_000138.5(FBN1):c.2094G>A (p.Pro698=)
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rs144775475
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NM_000138.5(FBN1):c.2100T>C (p.Pro700=)
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NM_000138.5(FBN1):c.2103A>G (p.Ala701=)
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rs2141315644
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NM_000138.5(FBN1):c.2113+18_2113+19delinsAT
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NM_000138.5(FBN1):c.2114-15G>C
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rs1566912665
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NM_000138.5(FBN1):c.2114-20T>C
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NM_000138.5(FBN1):c.2114-7A>G
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NM_000138.5(FBN1):c.2167+19A>C
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NM_000138.5(FBN1):c.2168-11T>C
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NM_000138.5(FBN1):c.2168-15T>G
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NM_000138.5(FBN1):c.2168-4G>A
|
rs2141306607
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NM_000138.5(FBN1):c.2187A>G (p.Leu729=)
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rs61730055
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NM_000138.5(FBN1):c.2207A>G (p.Asn736Ser)
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rs1566912242
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NM_000138.5(FBN1):c.223C>T (p.Pro75Ser)
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rs886051252
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NM_000138.5(FBN1):c.2241A>G (p.Lys747=)
|
rs1045070535
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NM_000138.5(FBN1):c.2268G>A (p.Val756=)
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rs2141306354
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NM_000138.5(FBN1):c.2277T>C (p.Thr759=)
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rs1028807052
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NM_000138.5(FBN1):c.2277T>G (p.Thr759=)
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NM_000138.5(FBN1):c.228C>G (p.Gly76=)
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rs141651917
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NM_000138.5(FBN1):c.2293+14C>A
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NM_000138.5(FBN1):c.2293+15C>T
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NM_000138.5(FBN1):c.2293+17A>G
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NM_000138.5(FBN1):c.2293+8G>A
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NM_000138.5(FBN1):c.2293+8G>T
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NM_000138.5(FBN1):c.2294-18T>C
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NM_000138.5(FBN1):c.2294-20T>C
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NM_000138.5(FBN1):c.2294-9_2294-4del
|
rs1597569681
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NM_000138.5(FBN1):c.2340A>G (p.Gln780=)
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NM_000138.5(FBN1):c.2343T>C (p.Cys781=)
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rs199647257
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NM_000138.5(FBN1):c.2352T>A (p.Thr784=)
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rs2141305065
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NM_000138.5(FBN1):c.2376C>T (p.Cys792=)
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rs1060504142
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NM_000138.5(FBN1):c.2377C>T (p.Pro793Ser)
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NM_000138.5(FBN1):c.237G>A (p.Gln79=)
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NM_000138.5(FBN1):c.2385A>T (p.Gly795=)
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NM_000138.5(FBN1):c.2391C>T (p.Ile797=)
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rs2141304992
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NM_000138.5(FBN1):c.2397A>G (p.Lys799=)
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NM_000138.5(FBN1):c.2404C>T (p.Leu802=)
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NM_000138.5(FBN1):c.2419+16G>C
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NM_000138.5(FBN1):c.2451T>G (p.Ile817Met)
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NM_000138.5(FBN1):c.247+20G>A
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rs2140737315
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NM_000138.5(FBN1):c.247+9A>C
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rs1298547542
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NM_000138.5(FBN1):c.248-4A>G
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rs1597631751
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NM_000138.5(FBN1):c.2493A>G (p.Glu831=)
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rs756410019
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NM_000138.5(FBN1):c.2508T>C (p.Ser836=)
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rs193922190
|
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NM_000138.5(FBN1):c.2521A>T (p.Thr841Ser)
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rs1381506466
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NM_000138.5(FBN1):c.2529C>T (p.Thr843=)
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NM_000138.5(FBN1):c.2539+10T>A
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rs878853679
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NM_000138.5(FBN1):c.2539+10T>C
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rs878853679
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NM_000138.5(FBN1):c.2539+11T>C
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NM_000138.5(FBN1):c.2539+13C>T
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NM_000138.5(FBN1):c.2539+17G>A
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NM_000138.5(FBN1):c.2539+19A>T
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rs370949913
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NM_000138.5(FBN1):c.2539+9C>T
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rs765271763
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NM_000138.5(FBN1):c.2540-10T>A
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NM_000138.5(FBN1):c.2544C>T (p.Thr848=)
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rs2043596539
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NM_000138.5(FBN1):c.2568T>C (p.Thr856=)
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NM_000138.5(FBN1):c.258G>T (p.Arg86=)
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NM_000138.5(FBN1):c.2601T>C (p.Asn867=)
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NM_000138.5(FBN1):c.2613A>G (p.Leu871=)
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rs770290542
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NM_000138.5(FBN1):c.2646G>A (p.Ala882=)
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NM_000138.5(FBN1):c.2646G>C (p.Ala882=)
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rs376040442
|
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NM_000138.5(FBN1):c.2662A>T (p.Thr888Ser)
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NM_000138.5(FBN1):c.2664C>T (p.Thr888=)
|
rs1597568804
|
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NM_000138.5(FBN1):c.2665C>G (p.Leu889Val)
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NM_000138.5(FBN1):c.2666T>A (p.Leu889Gln)
|
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NM_000138.5(FBN1):c.2667A>G (p.Leu889=)
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rs780192241
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NM_000138.5(FBN1):c.2674G>A (p.Val892Ile)
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NM_000138.5(FBN1):c.2677+14A>G
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NM_000138.5(FBN1):c.2677+15T>C
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NM_000138.5(FBN1):c.2677+16G>A
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NM_000138.5(FBN1):c.2677+18T>G
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NM_000138.5(FBN1):c.2678-10T>C
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rs1457653118
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NM_000138.5(FBN1):c.2678-8T>C
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NM_000138.5(FBN1):c.2678-9T>A
|
rs2141302502
|
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NM_000138.5(FBN1):c.2691T>C (p.Gly897=)
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rs1555399096
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NM_000138.5(FBN1):c.2718A>G (p.Thr906=)
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rs2141302366
|
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NM_000138.5(FBN1):c.2721A>G (p.Gln907=)
|
rs781062880
|
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NM_000138.5(FBN1):c.2721A>T (p.Gln907His)
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rs781062880
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NM_000138.5(FBN1):c.2728+13A>G
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NM_000138.5(FBN1):c.2728+14C>G
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NM_000138.5(FBN1):c.2728+16T>G
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NM_000138.5(FBN1):c.2728+18T>A
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NM_000138.5(FBN1):c.2728+18T>C
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NM_000138.5(FBN1):c.2729-11T>C
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NM_000138.5(FBN1):c.2729-13T>G
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NM_000138.5(FBN1):c.2729-14T>G
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NM_000138.5(FBN1):c.2729-16T>C
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NM_000138.5(FBN1):c.2729-17T>C
|
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NM_000138.5(FBN1):c.2729-19A>T
|
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NM_000138.5(FBN1):c.2729-3del
|
rs756503206
|
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NM_000138.5(FBN1):c.2729-7T>C
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rs1269178652
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NM_000138.5(FBN1):c.2729-8C>A
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rs775257418
|
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NM_000138.5(FBN1):c.2729-8C>T
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rs775257418
|
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NM_000138.5(FBN1):c.2736T>C (p.Asp912=)
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NM_000138.5(FBN1):c.2784C>T (p.Asn928=)
|
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NM_000138.5(FBN1):c.2790G>A (p.Arg930=)
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NM_000138.5(FBN1):c.2796A>G (p.Ser932=)
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rs1261762653
|
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NM_000138.5(FBN1):c.2799C>T (p.Phe933=)
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rs2141300339
|
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NM_000138.5(FBN1):c.27C>T (p.Ile9=)
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rs1057522209
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NM_000138.5(FBN1):c.2808G>A (p.Gln936=)
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NM_000138.5(FBN1):c.2817T>C (p.Ser939=)
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rs1254659886
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NM_000138.5(FBN1):c.2854+10G>A
|
rs768540741
|
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NM_000138.5(FBN1):c.2854+11A>G
|
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NM_000138.5(FBN1):c.2854+15C>T
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NM_000138.5(FBN1):c.2854+20T>C
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NM_000138.5(FBN1):c.2854+7A>G
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NM_000138.5(FBN1):c.2854+9T>G
|
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NM_000138.5(FBN1):c.2855-11C>T
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NM_000138.5(FBN1):c.2855-16T>C
|
rs2141297617
|
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NM_000138.5(FBN1):c.2855-18C>G
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NM_000138.5(FBN1):c.2855-19C>T
|
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NM_000138.5(FBN1):c.2855-8T>C
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rs193922195
|
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NM_000138.5(FBN1):c.2856T>C (p.Asp952=)
|
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NM_000138.5(FBN1):c.2905C>T (p.Leu969=)
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rs376776832
|
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NM_000138.5(FBN1):c.2913T>C (p.Ile971=)
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rs2141297416
|
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NM_000138.5(FBN1):c.2934C>T (p.Asp978=)
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rs138438849
|
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NM_000138.5(FBN1):c.2952C>A (p.Val984=)
|
rs374670384
|
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NM_000138.5(FBN1):c.2957C>T (p.Ala986Val)
|
|
|
NM_000138.5(FBN1):c.2961C>G (p.Ala987=)
|
|
|
NM_000138.5(FBN1):c.2982G>A (p.Glu994=)
|
rs758745637
|
|
NM_000138.5(FBN1):c.2985G>A (p.Glu995=)
|
|
|
NM_000138.5(FBN1):c.3006T>C (p.Pro1002=)
|
rs2141297191
|
|
NM_000138.5(FBN1):c.3012C>T (p.Tyr1004=)
|
rs397515784
|
|
NM_000138.5(FBN1):c.3015G>A (p.Glu1005=)
|
rs1430562775
|
|
NM_000138.5(FBN1):c.3027G>A (p.Pro1009=)
|
rs774381427
|
|
NM_000138.5(FBN1):c.3051A>G (p.Lys1017=)
|
|
|
NM_000138.5(FBN1):c.3054A>G (p.Glu1018=)
|
rs1060504141
|
|
NM_000138.5(FBN1):c.3078C>T (p.Phe1026=)
|
rs553411757
|
|
NM_000138.5(FBN1):c.3082+11dup
|
|
|
NM_000138.5(FBN1):c.3082+12C>G
|
|
|
NM_000138.5(FBN1):c.3082+12C>T
|
|
|
NM_000138.5(FBN1):c.3082+8G>A
|
|
|
NM_000138.5(FBN1):c.3082+9T>C
|
rs746303949
|
|
NM_000138.5(FBN1):c.3083-18A>G
|
|
|
NM_000138.5(FBN1):c.3083-9T>C
|
|
|
NM_000138.5(FBN1):c.30C>A (p.Ala10=)
|
rs1373206190
|
|
NM_000138.5(FBN1):c.30C>T (p.Ala10=)
|
|
|
NM_000138.5(FBN1):c.3102G>A (p.Met1034Ile)
|
|
|
NM_000138.5(FBN1):c.3111C>T (p.Ser1037=)
|
rs2141295290
|
|
NM_000138.5(FBN1):c.3123C>A (p.His1041Gln)
|
|
|
NM_000138.5(FBN1):c.3123C>T (p.His1041=)
|
rs576395584
|
|
NM_000138.5(FBN1):c.3144T>A (p.Ile1048=)
|
rs112384723
|
|
NM_000138.5(FBN1):c.3201C>T (p.Asn1067=)
|
|
|
NM_000138.5(FBN1):c.3208+10T>C
|
rs1597564173
|
|
NM_000138.5(FBN1):c.3208+13G>A
|
rs2043527577
|
|
NM_000138.5(FBN1):c.3208+14C>G
|
|
|
NM_000138.5(FBN1):c.3208+7T>A
|
|
|
NM_000138.5(FBN1):c.3209-11T>G
|
|
|
NM_000138.5(FBN1):c.3209-13T>C
|
|
|
NM_000138.5(FBN1):c.3209-19A>G
|
|
|
NM_000138.5(FBN1):c.3209-6G>C
|
rs942309418
|
|
NM_000138.5(FBN1):c.3210C>T (p.Asp1070=)
|
rs754970748
|
|
NM_000138.5(FBN1):c.3213T>A (p.Ile1071=)
|
|
|
NM_000138.5(FBN1):c.3297A>G (p.Glu1099=)
|
rs1555398626
|
|
NM_000138.5(FBN1):c.3303T>C (p.Tyr1101=)
|
rs1555398624
|
|
NM_000138.5(FBN1):c.3334A>T (p.Met1112Leu)
|
|
|
NM_000138.5(FBN1):c.3337+15A>T
|
|
|
NM_000138.5(FBN1):c.3338-16C>T
|
|
|
NM_000138.5(FBN1):c.3338-18del
|
|
|
NM_000138.5(FBN1):c.3366C>T (p.Leu1122=)
|
rs2141293747
|
|
NM_000138.5(FBN1):c.336C>T (p.Gly112=)
|
rs1555405526
|
|
NM_000138.5(FBN1):c.3390T>C (p.His1130=)
|
|
|
NM_000138.5(FBN1):c.339C>T (p.Ser113=)
|
|
|
NM_000138.5(FBN1):c.3402A>G (p.Gly1134=)
|
|
|
NM_000138.5(FBN1):c.3411C>T (p.Arg1137=)
|
rs878853681
|
|
NM_000138.5(FBN1):c.3447C>T (p.Asn1149=)
|
|
|
NM_000138.5(FBN1):c.3463+15T>A
|
rs1597563076
|
|
NM_000138.5(FBN1):c.3464-16_3464-14del
|
rs775944757
|
|
NM_000138.5(FBN1):c.347-19CTT[2]
|
rs756583965
|
|
NM_000138.5(FBN1):c.3471T>C (p.Asn1157=)
|
|
|
NM_000138.5(FBN1):c.3487G>A (p.Ala1163Thr)
|
|
|
NM_000138.5(FBN1):c.3516G>C (p.Val1172=)
|
rs2141293239
|
|
NM_000138.5(FBN1):c.3528G>A (p.Gly1176=)
|
rs902201289
|
|
NM_000138.5(FBN1):c.3537G>A (p.Gln1179=)
|
|
|
NM_000138.5(FBN1):c.3579A>G (p.Leu1193=)
|
|
|
NM_000138.5(FBN1):c.3582T>C (p.Phe1194=)
|
rs2141293096
|
|
NM_000138.5(FBN1):c.3586G>A (p.Val1196Ile)
|
rs1352765609
|
|
NM_000138.5(FBN1):c.3590-10T>C
|
rs1384307516
|
|
NM_000138.5(FBN1):c.3590-11A>G
|
rs777262423
|
|
NM_000138.5(FBN1):c.3590-17_3590-15del
|
|
|
NM_000138.5(FBN1):c.3590-19T>C
|
|
|
NM_000138.5(FBN1):c.3590-9T>A
|
|
|
NM_000138.5(FBN1):c.359A>G (p.Asn120Ser)
|
rs753900024
|
|
NM_000138.5(FBN1):c.3605G>A (p.Ser1202Asn)
|
rs758542279
|
|
NM_000138.5(FBN1):c.3712+16C>T
|
|
|
NM_000138.5(FBN1):c.3712+9G>A
|
|
|
NM_000138.5(FBN1):c.3712+9G>T
|
rs769251450
|
|
NM_000138.5(FBN1):c.3713-17G>T
|
|
|
NM_000138.5(FBN1):c.3713-4G>A
|
rs2141289788
|
|
NM_000138.5(FBN1):c.3730G>A (p.Asp1244Asn)
|
|
|
NM_000138.5(FBN1):c.3780G>A (p.Glu1260=)
|
|
|
NM_000138.5(FBN1):c.3786G>A (p.Arg1262=)
|
rs1555398280
|
|
NM_000138.5(FBN1):c.378A>C (p.Gly126=)
|
|
|
NM_000138.5(FBN1):c.3801T>C (p.Asp1267=)
|
rs769208631
|
|
NM_000138.5(FBN1):c.381T>C (p.Gly127=)
|
|
|
NM_000138.5(FBN1):c.3838+16A>G
|
|
|
NM_000138.5(FBN1):c.3838+18A>T
|
|
|
NM_000138.5(FBN1):c.3839-15A>C
|
|
|
NM_000138.5(FBN1):c.3839-19T>C
|
|
|
NM_000138.5(FBN1):c.3839-20A>G
|
rs891189448
|
|
NM_000138.5(FBN1):c.3843C>A (p.Val1281=)
|
|
|
NM_000138.5(FBN1):c.3849G>A (p.Glu1283=)
|
|
|
NM_000138.5(FBN1):c.3870C>T (p.Ile1290=)
|
rs2043466994
|
|
NM_000138.5(FBN1):c.3897G>C (p.Thr1299=)
|
rs771283158
|
|
NM_000138.5(FBN1):c.38T>G (p.Phe13Cys)
|
rs773614956
|
|
NM_000138.5(FBN1):c.3936C>A (p.Ser1312=)
|
rs779913610
|
|
NM_000138.5(FBN1):c.3939C>G (p.Gly1313=)
|
rs1597558962
|
|
NM_000138.5(FBN1):c.3964+12C>G
|
|
|
NM_000138.5(FBN1):c.3964+13A>C
|
|
|
NM_000138.5(FBN1):c.3964+9G>T
|
rs1412748899
|
|
NM_000138.5(FBN1):c.3965-10A>G
|
|
|
NM_000138.5(FBN1):c.3965-15dup
|
rs2043405703
|
|
NM_000138.5(FBN1):c.3966C>T (p.Asp1322=)
|
rs2141280317
|
|
NM_000138.5(FBN1):c.3969C>A (p.Ile1323=)
|
rs536546914
|
|
NM_000138.5(FBN1):c.3975A>G (p.Glu1325=)
|
rs1555397741
|
|
NM_000138.5(FBN1):c.3988G>A (p.Ala1330Thr)
|
|
|
NM_000138.5(FBN1):c.4023T>C (p.Asn1341=)
|
rs2043404831
|
|
NM_000138.5(FBN1):c.4035C>T (p.Ser1345=)
|
rs1400471354
|
|
NM_000138.5(FBN1):c.4065T>A (p.Ile1355=)
|
|
|
NM_000138.5(FBN1):c.4068A>C (p.Gly1356=)
|
rs1555397706
|
|
NM_000138.5(FBN1):c.4088-13C>T
|
|
|
NM_000138.5(FBN1):c.4088-14C>A
|
|
|
NM_000138.5(FBN1):c.4088-15A>C
|
|
|
NM_000138.5(FBN1):c.4088-17T>C
|
rs1397067049
|
|
NM_000138.5(FBN1):c.4088-8T>C
|
|
|
NM_000138.5(FBN1):c.4107T>C (p.Asn1369=)
|
rs765588220
|
|
NM_000138.5(FBN1):c.4134A>T (p.Ala1378=)
|
|
|
NM_000138.5(FBN1):c.4145A>T (p.Asn1382Ile)
|
rs1555397661
|
|
NM_000138.5(FBN1):c.4146T>C (p.Asn1382=)
|
|
|
NM_000138.5(FBN1):c.4149C>G (p.Thr1383=)
|
|
|
NM_000138.5(FBN1):c.4152G>A (p.Met1384Ile)
|
rs1488326228
|
|
NM_000138.5(FBN1):c.4155A>T (p.Gly1385=)
|
rs2141279769
|
|
NM_000138.5(FBN1):c.4164C>A (p.Arg1388=)
|
|
|
NM_000138.5(FBN1):c.4179A>G (p.Glu1393=)
|
rs1597553731
|
|
NM_000138.5(FBN1):c.4185C>T (p.Tyr1395=)
|
rs2043401602
|
|
NM_000138.5(FBN1):c.4190G>T (p.Gly1397Val)
|
rs747867726
|
|
NM_000138.5(FBN1):c.4191T>C (p.Gly1397=)
|
|
|
NM_000138.5(FBN1):c.4197C>T (p.Gly1399=)
|
|
|
NM_000138.5(FBN1):c.4210+11G>A
|
rs148057138
|
|
NM_000138.5(FBN1):c.4210+14G>T
|
|
|
NM_000138.5(FBN1):c.4210+15G>A
|
|
|
NM_000138.5(FBN1):c.4210+15G>C
|
|
|
NM_000138.5(FBN1):c.4210+16A>C
|
|
|
NM_000138.5(FBN1):c.4210+16A>G
|
|
|
NM_000138.5(FBN1):c.4211-12_4211-9del
|
rs1597552613
|
|
NM_000138.5(FBN1):c.4211-5T>C
|
|
|
NM_000138.5(FBN1):c.4211-8G>C
|
rs764384543
|
|
NM_000138.5(FBN1):c.4230G>A (p.Glu1410=)
|
|
|
NM_000138.5(FBN1):c.4245T>C (p.Cys1415=)
|
rs1555397553
|
|
NM_000138.5(FBN1):c.4254C>G (p.Gly1418=)
|
|
|
NM_000138.5(FBN1):c.4263C>G (p.Leu1421=)
|
|
|
NM_000138.5(FBN1):c.4269A>T (p.Ala1423=)
|
rs775256810
|
|
NM_000138.5(FBN1):c.4281C>T (p.Tyr1427=)
|
|
|
NM_000138.5(FBN1):c.4293C>T (p.Cys1431=)
|
rs112375043
|
|
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.431A>G (p.His144Arg)
|
|
|
NM_000138.5(FBN1):c.4336+19A>G
|
rs2043384546
|
|
NM_000138.5(FBN1):c.4336+4_4336+11dup
|
|
|
NM_000138.5(FBN1):c.4336+9T>A
|
|
|
NM_000138.5(FBN1):c.4337-12C>T
|
rs573468967
|
|
NM_000138.5(FBN1):c.4337-4dup
|
rs1566905439
|
|
NM_000138.5(FBN1):c.4337-8C>A
|
rs1458842000
|
|
NM_000138.5(FBN1):c.4362C>T (p.Asn1454=)
|
rs1060504145
|
|
NM_000138.5(FBN1):c.4395T>C (p.Pro1465=)
|
rs1555397410
|
|
NM_000138.5(FBN1):c.4401G>A (p.Leu1467=)
|
|
|
NM_000138.5(FBN1):c.4401G>C (p.Leu1467=)
|
rs747377334
|
|
NM_000138.5(FBN1):c.4404C>T (p.Phe1468=)
|
rs780479561
|
|
NM_000138.5(FBN1):c.442+8C>T
|
rs771771077
|
|
NM_000138.5(FBN1):c.443-12C>A
|
rs1027154934
|
|
NM_000138.5(FBN1):c.443-13C>T
|
|
|
NM_000138.5(FBN1):c.443-17C>G
|
|
|
NM_000138.5(FBN1):c.443-20G>A
|
|
|
NM_000138.5(FBN1):c.443-8T>C
|
rs1319616777
|
|
NM_000138.5(FBN1):c.443-9A>T
|
|
|
NM_000138.5(FBN1):c.4459+16G>A
|
|
|
NM_000138.5(FBN1):c.4503C>T (p.Asn1501=)
|
rs2043341420
|
|
NM_000138.5(FBN1):c.4512C>T (p.Asn1504=)
|
|
|
NM_000138.5(FBN1):c.4569A>T (p.Arg1523=)
|
rs2141272876
|
|
NM_000138.5(FBN1):c.4582+11A>G
|
|
|
NM_000138.5(FBN1):c.4582+19_4582+21del
|
|
|
NM_000138.5(FBN1):c.4582+7C>T
|
rs768496209
|
|
NM_000138.5(FBN1):c.4583-12T>C
|
rs1326100045
|
|
NM_000138.5(FBN1):c.4583-18T>C
|
|
|
NM_000138.5(FBN1):c.4583-6A>T
|
|
|
NM_000138.5(FBN1):c.4583-8G>C
|
rs910464222
|
|
NM_000138.5(FBN1):c.4583-9G>C
|
rs2043338449
|
|
NM_000138.5(FBN1):c.4587C>T (p.Thr1529=)
|
rs1366052911
|
|
NM_000138.5(FBN1):c.4593T>C (p.Ser1531=)
|
rs985992262
|
|
NM_000138.5(FBN1):c.4620T>G (p.Pro1540=)
|
|
|
NM_000138.5(FBN1):c.4656A>G (p.Glu1552=)
|
rs768210642
|
|
NM_000138.5(FBN1):c.465C>T (p.Leu155=)
|
|
|
NM_000138.5(FBN1):c.4671T>C (p.Val1557=)
|
rs978094803
|
|
NM_000138.5(FBN1):c.4704A>G (p.Lys1568=)
|
rs193922208
|
|
NM_000138.5(FBN1):c.4731T>C (p.Cys1577=)
|
|
|
NM_000138.5(FBN1):c.4747+15T>G
|
|
|
NM_000138.5(FBN1):c.4747+19A>G
|
rs2141272191
|
|
NM_000138.5(FBN1):c.4747+8G>A
|
rs368739764
|
|
NM_000138.5(FBN1):c.4747+8G>C
|
|
|
NM_000138.5(FBN1):c.4748-10G>A
|
|
|
NM_000138.5(FBN1):c.4748-10G>C
|
|
|
NM_000138.5(FBN1):c.4748-19T>A
|
|
|
NM_000138.5(FBN1):c.4748-3T>C
|
rs770762644
|
|
NM_000138.5(FBN1):c.4749C>T (p.Ser1583=)
|
rs1275608178
|
|
NM_000138.5(FBN1):c.4764T>C (p.Leu1588=)
|
rs2043316351
|
|
NM_000138.5(FBN1):c.4791A>C (p.Pro1597=)
|
rs2043316050
|
|
NM_000138.5(FBN1):c.4816+8_4816+9insTACCTTCCTT
|
rs878853684
|
|
NM_000138.5(FBN1):c.4817-14T>G
|
|
|
NM_000138.5(FBN1):c.4817-16G>T
|
|
|
NM_000138.5(FBN1):c.4817-7T>C
|
|
|
NM_000138.5(FBN1):c.4817-8T>C
|
rs2043315040
|
|
NM_000138.5(FBN1):c.4827G>A (p.Glu1609=)
|
|
|
NM_000138.5(FBN1):c.4848G>C (p.Leu1616=)
|
|
|
NM_000138.5(FBN1):c.4863A>G (p.Lys1621=)
|
rs2043314687
|
|
NM_000138.5(FBN1):c.486C>G (p.Ala162=)
|
|
|
NM_000138.5(FBN1):c.486C>T (p.Ala162=)
|
rs2044515505
|
|
NM_000138.5(FBN1):c.4881G>A (p.Gly1627=)
|
|
|
NM_000138.5(FBN1):c.4896C>G (p.Arg1632=)
|
rs2141269637
|
|
NM_000138.5(FBN1):c.4905C>T (p.Thr1635=)
|
rs113115949
|
|
NM_000138.5(FBN1):c.4914C>T (p.Tyr1638=)
|
|
|
NM_000138.5(FBN1):c.4917G>T (p.Leu1639=)
|
|
|
NM_000138.5(FBN1):c.4935G>A (p.Val1645=)
|
rs886038897
|
|
NM_000138.5(FBN1):c.4942+19A>C
|
|
|
NM_000138.5(FBN1):c.4942+19A>T
|
rs2141269507
|
|
NM_000138.5(FBN1):c.4942+20T>A
|
|
|
NM_000138.5(FBN1):c.4942+8G>C
|
|
|
NM_000138.5(FBN1):c.4942+9T>G
|
|
|
NM_000138.5(FBN1):c.4943-13C>T
|
|
|
NM_000138.5(FBN1):c.4943-15C>A
|
|
|
NM_000138.5(FBN1):c.4943-25_4943-19del
|
|
|
NM_000138.5(FBN1):c.4943-4A>G
|
rs1555396865
|
|
NM_000138.5(FBN1):c.4962T>C (p.Thr1654=)
|
|
|
NM_000138.5(FBN1):c.4998C>T (p.Thr1666=)
|
rs141925790
|
|
NM_000138.5(FBN1):c.5013C>T (p.Thr1671=)
|
|
|
NM_000138.5(FBN1):c.5031C>T (p.Asp1677=)
|
rs1597545860
|
|
NM_000138.5(FBN1):c.5066-12C>T
|
rs531105331
|
|
NM_000138.5(FBN1):c.5066-19T>C
|
|
|
NM_000138.5(FBN1):c.5066-5dup
|
|
|
NM_000138.5(FBN1):c.5076A>G (p.Arg1692=)
|
rs2141266766
|
|
NM_000138.5(FBN1):c.5100T>C (p.Tyr1700=)
|
|
|
NM_000138.5(FBN1):c.5109C>T (p.Asn1703=)
|
rs1235270306
|
|
NM_000138.5(FBN1):c.5121T>C (p.Asp1707=)
|
rs1031351464
|
|
NM_000138.5(FBN1):c.5178C>T (p.Gly1726=)
|
rs1303761807
|
|
NM_000138.5(FBN1):c.5181G>C (p.Arg1727=)
|
rs1288751290
|
|
NM_000138.5(FBN1):c.5214C>T (p.Ile1738=)
|
|
|
NM_000138.5(FBN1):c.5224+11G>A
|
rs776454928
|
|
NM_000138.5(FBN1):c.5225-10A>T
|
|
|
NM_000138.5(FBN1):c.5232T>C (p.Phe1744=)
|
|
|
NM_000138.5(FBN1):c.5271C>T (p.Ile1757=)
|
rs1291913287
|
|
NM_000138.5(FBN1):c.5272G>A (p.Asp1758Asn)
|
|
|
NM_000138.5(FBN1):c.5274C>T (p.Asp1758=)
|
rs1566902542
|
|
NM_000138.5(FBN1):c.5283C>G (p.Thr1761=)
|
|
|
NM_000138.5(FBN1):c.5296+10G>A
|
|
|
NM_000138.5(FBN1):c.5296+12C>G
|
rs566030960
|
|
NM_000138.5(FBN1):c.5296+7C>T
|
|
|
NM_000138.5(FBN1):c.5296+8A>C
|
|
|
NM_000138.5(FBN1):c.5297-10C>T
|
|
|
NM_000138.5(FBN1):c.5297-15C>T
|
|
|
NM_000138.5(FBN1):c.5307G>A (p.Glu1769=)
|
|
|
NM_000138.5(FBN1):c.5343G>C (p.Val1781=)
|
|
|
NM_000138.5(FBN1):c.5358T>C (p.Val1786=)
|
rs1057521207
|
|
NM_000138.5(FBN1):c.5367C>T (p.Phe1789=)
|
|
|
NM_000138.5(FBN1):c.538+12T>A
|
|
|
NM_000138.5(FBN1):c.5391C>T (p.Phe1797=)
|
rs775373513
|
|
NM_000138.5(FBN1):c.5403C>T (p.Asp1801=)
|
|
|
NM_000138.5(FBN1):c.5409G>A (p.Leu1803=)
|
rs906226501
|
|
NM_000138.5(FBN1):c.5422+13A>T
|
|
|
NM_000138.5(FBN1):c.5423-16T>C
|
|
|
NM_000138.5(FBN1):c.5423-19A>G
|
|
|
NM_000138.5(FBN1):c.5427T>C (p.Ile1809=)
|
rs2141256134
|
|
NM_000138.5(FBN1):c.5448A>G (p.Pro1816=)
|
rs2043210295
|
|
NM_000138.5(FBN1):c.5478C>T (p.Asn1826=)
|
rs1213848361
|
|
NM_000138.5(FBN1):c.5532A>G (p.Thr1844=)
|
|
|
NM_000138.5(FBN1):c.5545+12C>T
|
rs193922213
|
|
NM_000138.5(FBN1):c.5545+15A>G
|
|
|
NM_000138.5(FBN1):c.5545+19G>C
|
|
|
NM_000138.5(FBN1):c.5546-11C>G
|
|
|
NM_000138.5(FBN1):c.5546-15G>A
|
|
|
NM_000138.5(FBN1):c.5546-8A>T
|
|
|
NM_000138.5(FBN1):c.5586T>C (p.His1862=)
|
|
|
NM_000138.5(FBN1):c.5597T>C (p.Ile1866Thr)
|
rs773133679
|
|
NM_000138.5(FBN1):c.5604A>G (p.Thr1868=)
|
|
|
NM_000138.5(FBN1):c.5607T>C (p.Val1869=)
|
rs1597535252
|
|
NM_000138.5(FBN1):c.5619T>C (p.Tyr1873=)
|
|
|
NM_000138.5(FBN1):c.5637T>G (p.Gly1879=)
|
|
|
NM_000138.5(FBN1):c.5672-14T>C
|
|
|
NM_000138.5(FBN1):c.5672-3T>C
|
rs193922217
|
|
NM_000138.5(FBN1):c.5672-5A>G
|
|
|
NM_000138.5(FBN1):c.5672-6T>A
|
rs1555395850
|
|
NM_000138.5(FBN1):c.5697C>T (p.Ala1899=)
|
rs772617187
|
|
NM_000138.5(FBN1):c.5706T>C (p.Asn1902=)
|
rs1597533673
|
|
NM_000138.5(FBN1):c.570C>T (p.Ile190=)
|
|
|
NM_000138.5(FBN1):c.5718G>C (p.Arg1906=)
|
rs1403178913
|
|
NM_000138.5(FBN1):c.5725A>G (p.Ile1909Val)
|
|
|
NM_000138.5(FBN1):c.5788+10del
|
rs761983874
|
|
NM_000138.5(FBN1):c.5788+13_5788+14del
|
rs886038252
|
|
NM_000138.5(FBN1):c.5788+15T>A
|
rs543458649
|
|
NM_000138.5(FBN1):c.5788+15T>C
|
rs543458649
|
|
NM_000138.5(FBN1):c.5789-13G>A
|
rs777593835
|
|
NM_000138.5(FBN1):c.57C>G (p.Ser19=)
|
rs1890261910
|
|
NM_000138.5(FBN1):c.5838A>G (p.Gln1946=)
|
rs759049300
|
|
NM_000138.5(FBN1):c.5850A>G (p.Thr1950=)
|
rs2043151355
|
|
NM_000138.5(FBN1):c.5892G>A (p.Val1964=)
|
|
|
NM_000138.5(FBN1):c.5917+11G>A
|
|
|
NM_000138.5(FBN1):c.5917+15del
|
|
|
NM_000138.5(FBN1):c.5917+20A>G
|
|
|
NM_000138.5(FBN1):c.5917+8C>T
|
rs1566898389
|
|
NM_000138.5(FBN1):c.5989A>C (p.Arg1997=)
|
|
|
NM_000138.5(FBN1):c.5994C>T (p.Cys1998=)
|
rs1555395648
|
|
NM_000138.5(FBN1):c.600C>T (p.Ser200=)
|
|
|
NM_000138.5(FBN1):c.6015T>C (p.Ser2005=)
|
|
|
NM_000138.5(FBN1):c.6037+10C>T
|
rs2141247970
|
|
NM_000138.5(FBN1):c.6037+16G>A
|
|
|
NM_000138.5(FBN1):c.6037+17T>C
|
|
|
NM_000138.5(FBN1):c.6038-13G>T
|
rs536742402
|
|
NM_000138.5(FBN1):c.6038-14T>C
|
rs369107058
|
|
NM_000138.5(FBN1):c.6038-16C>T
|
|
|
NM_000138.5(FBN1):c.6038-23_6038-20del
|
|
|
NM_000138.5(FBN1):c.6048G>A (p.Glu2016=)
|
rs991367684
|
|
NM_000138.5(FBN1):c.6060G>A (p.Glu2020=)
|
rs1597529860
|
|
NM_000138.5(FBN1):c.6075C>G (p.Ala2025=)
|
rs1597529820
|
|
NM_000138.5(FBN1):c.6084A>G (p.Thr2028=)
|
rs1597529803
|
|
NM_000138.5(FBN1):c.6111A>G (p.Lys2037=)
|
|
|
NM_000138.5(FBN1):c.6120T>C (p.Cys2040=)
|
rs193922221
|
|
NM_000138.5(FBN1):c.6123A>G (p.Pro2041=)
|
|
|
NM_000138.5(FBN1):c.6129G>T (p.Gly2043=)
|
|
|
NM_000138.5(FBN1):c.6141C>T (p.Ser2047=)
|
rs2141245369
|
|
NM_000138.5(FBN1):c.6144C>T (p.Ser2048=)
|
|
|
NM_000138.5(FBN1):c.6163+17G>C
|
|
|
NM_000138.5(FBN1):c.6163+8T>G
|
|
|
NM_000138.5(FBN1):c.6164-5T>C
|
rs2043085940
|
|
NM_000138.5(FBN1):c.6188C>T (p.Ala2063Val)
|
|
|
NM_000138.5(FBN1):c.6207G>A (p.Lys2069=)
|
rs1021415072
|
|
NM_000138.5(FBN1):c.6219C>T (p.Pro2073=)
|
rs771786623
|
|
NM_000138.5(FBN1):c.621G>A (p.Thr207=)
|
rs765173237
|
|
NM_000138.5(FBN1):c.6243G>A (p.Gln2081=)
|
|
|
NM_000138.5(FBN1):c.6303G>A (p.Thr2101=)
|
rs2043084739
|
|
NM_000138.5(FBN1):c.6313+9G>A
|
|
|
NM_000138.5(FBN1):c.6314-14T>A
|
|
|
NM_000138.5(FBN1):c.6314-14T>G
|
|
|
NM_000138.5(FBN1):c.6314-6C>G
|
|
|
NM_000138.5(FBN1):c.6314-6C>T
|
rs2141240971
|
|
NM_000138.5(FBN1):c.6314A>T (p.Glu2105Val)
|
rs1165109120
|
|
NM_000138.5(FBN1):c.6348G>A (p.Gly2116=)
|
|
|
NM_000138.5(FBN1):c.636A>C (p.Thr212=)
|
|
|
NM_000138.5(FBN1):c.6375A>C (p.Ala2125=)
|
rs2141240830
|
|
NM_000138.5(FBN1):c.6375A>G (p.Ala2125=)
|
rs2141240830
|
|
NM_000138.5(FBN1):c.6379+11T>A
|
|
|
NM_000138.5(FBN1):c.6379+16T>G
|
|
|
NM_000138.5(FBN1):c.6379+17G>T
|
|
|
NM_000138.5(FBN1):c.6379+9C>T
|
rs1555395223
|
|
NM_000138.5(FBN1):c.6380-20T>C
|
|
|
NM_000138.5(FBN1):c.63G>A (p.Thr21=)
|
rs2140787726
|
|
NM_000138.5(FBN1):c.63G>C (p.Thr21=)
|
|
|
NM_000138.5(FBN1):c.645A>T (p.Arg215=)
|
rs200062771
|
|
NM_000138.5(FBN1):c.6496+10A>C
|
|
|
NM_000138.5(FBN1):c.6496+12G>A
|
rs899879407
|
|
NM_000138.5(FBN1):c.6497-13T>C
|
|
|
NM_000138.5(FBN1):c.6497-14_6497-12del
|
|
|
NM_000138.5(FBN1):c.6497-15C>T
|
rs569535886
|
|
NM_000138.5(FBN1):c.6497-19C>T
|
|
|
NM_000138.5(FBN1):c.6497-4G>A
|
|
|
NM_000138.5(FBN1):c.6497-9T>A
|
|
|
NM_000138.5(FBN1):c.6501T>C (p.Thr2167=)
|
rs2141237184
|
|
NM_000138.5(FBN1):c.6549T>C (p.Asn2183=)
|
|
|
NM_000138.5(FBN1):c.654C>T (p.Gly218=)
|
|
|
NM_000138.5(FBN1):c.6582G>A (p.Glu2194=)
|
|
|
NM_000138.5(FBN1):c.6591G>A (p.Glu2197=)
|
|
|
NM_000138.5(FBN1):c.6600A>G (p.Pro2200=)
|
|
|
NM_000138.5(FBN1):c.6616+17G>C
|
|
|
NM_000138.5(FBN1):c.6616+7C>G
|
rs778659143
|
|
NM_000138.5(FBN1):c.6617-11_6617-9del
|
rs2141235287
|
|
NM_000138.5(FBN1):c.6617-12C>T
|
|
|
NM_000138.5(FBN1):c.6617-17A>T
|
|
|
NM_000138.5(FBN1):c.6617-7G>C
|
|
|
NM_000138.5(FBN1):c.6636G>A (p.Gln2212=)
|
rs2141235218
|
|
NM_000138.5(FBN1):c.6643C>T (p.Leu2215=)
|
rs921997271
|
|
NM_000138.5(FBN1):c.6648C>A (p.Leu2216=)
|
rs755861623
|
|
NM_000138.5(FBN1):c.6648C>G (p.Leu2216=)
|
|
|
NM_000138.5(FBN1):c.6681A>T (p.Ser2227=)
|
rs363824
|
|
NM_000138.5(FBN1):c.6687A>G (p.Glu2229=)
|
|
|
NM_000138.5(FBN1):c.6705A>G (p.Gly2235=)
|
|
|
NM_000138.5(FBN1):c.6711G>A (p.Val2237=)
|
|
|
NM_000138.5(FBN1):c.6711G>T (p.Val2237=)
|
rs760867972
|
|
NM_000138.5(FBN1):c.6739+11G>A
|
|
|
NM_000138.5(FBN1):c.6739+13G>A
|
|
|
NM_000138.5(FBN1):c.6739+16C>T
|
|
|
NM_000138.5(FBN1):c.6740-10T>A
|
rs1456822662
|
|
NM_000138.5(FBN1):c.6740-11A>T
|
|
|
NM_000138.5(FBN1):c.6740-13A>C
|
|
|
NM_000138.5(FBN1):c.6740-17T>C
|
|
|
NM_000138.5(FBN1):c.6740-19G>C
|
|
|
NM_000138.5(FBN1):c.6750G>A (p.Glu2250=)
|
rs887646369
|
|
NM_000138.5(FBN1):c.6786A>G (p.Gln2262=)
|
|
|
NM_000138.5(FBN1):c.6801C>T (p.Asn2267=)
|
rs886051245
|
|
NM_000138.5(FBN1):c.6817A>G (p.Met2273Val)
|
|
|
NM_000138.5(FBN1):c.681G>A (p.Gln227=)
|
rs2141358095
|
|
NM_000138.5(FBN1):c.6832C>G (p.Pro2278Ala)
|
rs363835
|
|
NM_000138.5(FBN1):c.6832C>T (p.Pro2278Ser)
|
rs363835
|
|
NM_000138.5(FBN1):c.6837G>C (p.Gly2279=)
|
|
|
NM_000138.5(FBN1):c.6858A>G (p.Gly2286=)
|
|
|
NM_000138.5(FBN1):c.6871+10T>C
|
rs745421627
|
|
NM_000138.5(FBN1):c.6871+16T>C
|
|
|
NM_000138.5(FBN1):c.6871+7G>C
|
rs1597520513
|
|
NM_000138.5(FBN1):c.6871+8G>C
|
|
|
NM_000138.5(FBN1):c.6871+8G>T
|
|
|
NM_000138.5(FBN1):c.6871+9A>G
|
|
|
NM_000138.5(FBN1):c.6872-7C>T
|
|
|
NM_000138.5(FBN1):c.6872-961A>T
|
|
|
NM_000138.5(FBN1):c.687C>T (p.His229=)
|
rs1391600366
|
|
NM_000138.5(FBN1):c.6888G>T (p.Gln2296His)
|
rs363830
|
|
NM_000138.5(FBN1):c.6900G>A (p.Gly2300=)
|
|
|
NM_000138.5(FBN1):c.6915G>C (p.Gly2305=)
|
|
|
NM_000138.5(FBN1):c.6954T>C (p.Cys2318=)
|
|
|
NM_000138.5(FBN1):c.6972C>G (p.Ala2324=)
|
rs1597518738
|
|
NM_000138.5(FBN1):c.6987C>T (p.Asp2329=)
|
rs363831
|
|
NM_000138.5(FBN1):c.6997+10G>A
|
|
|
NM_000138.5(FBN1):c.6997+17_6997+18delinsGT
|
rs2141229764
|
|
NM_000138.5(FBN1):c.6997+19G>A
|
rs767445722
|
|
NM_000138.5(FBN1):c.6997+20C>T
|
|
|
NM_000138.5(FBN1):c.6997+7A>G
|
|
|
NM_000138.5(FBN1):c.6997+8C>T
|
|
|
NM_000138.5(FBN1):c.6998-17T>C
|
|
|
NM_000138.5(FBN1):c.6998-22_6998-5del
|
|
|
NM_000138.5(FBN1):c.6998-40del
|
rs193922229
|
|
NM_000138.5(FBN1):c.69T>C (p.His23=)
|
rs2140787712
|
|
NM_000138.5(FBN1):c.7003C>A (p.Arg2335=)
|
|
|
NM_000138.5(FBN1):c.7014C>T (p.Tyr2338=)
|
rs1555394582
|
|
NM_000138.5(FBN1):c.702C>T (p.Gly234=)
|
|
|
NM_000138.5(FBN1):c.7032A>G (p.Leu2344=)
|
rs2141229116
|
|
NM_000138.5(FBN1):c.7048A>G (p.Ile2350Val)
|
rs794728263
|
|
NM_000138.5(FBN1):c.7050C>T (p.Ile2350=)
|
rs772287755
|
|
NM_000138.5(FBN1):c.7051G>C (p.Gly2351Arg)
|
|
|
NM_000138.5(FBN1):c.7064G>A (p.Arg2355Lys)
|
rs376372763
|
|
NM_000138.5(FBN1):c.7074C>T (p.Val2358=)
|
|
|
NM_000138.5(FBN1):c.7149T>A (p.Thr2383=)
|
|
|
NM_000138.5(FBN1):c.7149T>G (p.Thr2383=)
|
|
|
NM_000138.5(FBN1):c.7175A>G (p.His2392Arg)
|
|
|
NM_000138.5(FBN1):c.7176T>C (p.His2392=)
|
|
|
NM_000138.5(FBN1):c.7201G>T (p.Ala2401Ser)
|
rs771260695
|
|
NM_000138.5(FBN1):c.7204+15G>A
|
|
|
NM_000138.5(FBN1):c.7204+20A>G
|
|
|
NM_000138.5(FBN1):c.7205-10T>A
|
|
|
NM_000138.5(FBN1):c.7205-18A>G
|
rs1555394451
|
|
NM_000138.5(FBN1):c.7205-18A>T
|
|
|
NM_000138.5(FBN1):c.7212T>C (p.Asp2404=)
|
rs2141227085
|
|
NM_000138.5(FBN1):c.7227T>A (p.Ile2409=)
|
|
|
NM_000138.5(FBN1):c.7236T>C (p.Val2412=)
|
rs1306021418
|
|
NM_000138.5(FBN1):c.7239C>T (p.Cys2413=)
|
rs2042975041
|
|
NM_000138.5(FBN1):c.723G>A (p.Thr241=)
|
rs757264206
|
|
NM_000138.5(FBN1):c.7242A>C (p.Arg2414=)
|
|
|
NM_000138.5(FBN1):c.726A>T (p.Gly242=)
|
|
|
NM_000138.5(FBN1):c.7275T>C (p.Tyr2425=)
|
|
|
NM_000138.5(FBN1):c.7305A>G (p.Pro2435=)
|
rs2042974267
|
|
NM_000138.5(FBN1):c.7309A>G (p.Ile2437Val)
|
|
|
NM_000138.5(FBN1):c.7317G>A (p.Gly2439=)
|
rs766871786
|
|
NM_000138.5(FBN1):c.7327G>A (p.Val2443Ile)
|
|
|
NM_000138.5(FBN1):c.7330+11A>G
|
|
|
NM_000138.5(FBN1):c.7330+17G>A
|
|
|
NM_000138.5(FBN1):c.7331-16A>G
|
|
|
NM_000138.5(FBN1):c.7331-17T>C
|
rs2141226524
|
|
NM_000138.5(FBN1):c.7335G>A (p.Leu2445=)
|
|
|
NM_000138.5(FBN1):c.7341G>A (p.Glu2447=)
|
rs1437889689
|
|
NM_000138.5(FBN1):c.736+17G>A
|
rs540588651
|
|
NM_000138.5(FBN1):c.737-17C>G
|
|
|
NM_000138.5(FBN1):c.737-19G>C
|
|
|
NM_000138.5(FBN1):c.737-19_737-16del
|
rs748812494
|
|
NM_000138.5(FBN1):c.737-23_737-20del
|
|
|
NM_000138.5(FBN1):c.7407A>G (p.Ser2469=)
|
rs193922232
|
|
NM_000138.5(FBN1):c.7428G>A (p.Leu2476=)
|
rs1229985371
|
|
NM_000138.5(FBN1):c.7453+10A>C
|
|
|
NM_000138.5(FBN1):c.7453+15A>G
|
|
|
NM_000138.5(FBN1):c.7453+16C>A
|
|
|
NM_000138.5(FBN1):c.7454-10T>C
|
|
|
NM_000138.5(FBN1):c.7454-13C>G
|
|
|
NM_000138.5(FBN1):c.7454-17C>T
|
|
|
NM_000138.5(FBN1):c.7454-4G>T
|
rs1365010331
|
|
NM_000138.5(FBN1):c.7464G>A (p.Glu2488=)
|
rs1597513869
|
|
NM_000138.5(FBN1):c.7476G>A (p.Lys2492=)
|
rs2141222576
|
|
NM_000138.5(FBN1):c.7503T>G (p.Val2501=)
|
|
|
NM_000138.5(FBN1):c.750C>T (p.Cys250=)
|
|
|
NM_000138.5(FBN1):c.7515C>T (p.Gly2505=)
|
rs374570475
|
|
NM_000138.5(FBN1):c.7524A>T (p.Thr2508=)
|
rs201992942
|
|
NM_000138.5(FBN1):c.7530A>G (p.Lys2510=)
|
rs754992689
|
|
NM_000138.5(FBN1):c.7570+11G>C
|
|
|
NM_000138.5(FBN1):c.7570+20A>G
|
|
|
NM_000138.5(FBN1):c.7571-5C>G
|
|
|
NM_000138.5(FBN1):c.7578T>C (p.Asn2526=)
|
|
|
NM_000138.5(FBN1):c.7581A>G (p.Glu2527=)
|
rs2141221997
|
|
NM_000138.5(FBN1):c.7608G>A (p.Gly2536=)
|
|
|
NM_000138.5(FBN1):c.7665A>G (p.Gly2555=)
|
rs1597513298
|
|
NM_000138.5(FBN1):c.7668C>T (p.Phe2556=)
|
rs2141221791
|
|
NM_000138.5(FBN1):c.7699+15C>T
|
rs1280521883
|
|
NM_000138.5(FBN1):c.7699+18C>T
|
rs753819758
|
|
NM_000138.5(FBN1):c.7699+20G>A
|
|
|
NM_000138.5(FBN1):c.7700-4T>G
|
|
|
NM_000138.5(FBN1):c.7700-7T>C
|
|
|
NM_000138.5(FBN1):c.7700-9C>G
|
rs772261791
|
|
NM_000138.5(FBN1):c.7700-9C>T
|
rs772261791
|
|
NM_000138.5(FBN1):c.7704G>T (p.Val2568=)
|
|
|
NM_000138.5(FBN1):c.7710G>A (p.Glu2570=)
|
rs748055037
|
|
NM_000138.5(FBN1):c.7728C>G (p.Arg2576=)
|
|
|
NM_000138.5(FBN1):c.7728C>T (p.Arg2576=)
|
rs751226629
|
|
NM_000138.5(FBN1):c.7779C>G (p.Pro2593=)
|
|
|
NM_000138.5(FBN1):c.7788C>T (p.Tyr2596=)
|
rs1555394142
|
|
NM_000138.5(FBN1):c.7791C>G (p.Leu2597=)
|
|
|
NM_000138.5(FBN1):c.7800C>T (p.Tyr2600=)
|
rs1404133653
|
|
NM_000138.5(FBN1):c.7820-11T>C
|
|
|
NM_000138.5(FBN1):c.7820-17T>A
|
|
|
NM_000138.5(FBN1):c.7827C>T (p.Asn2609=)
|
|
|
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.7842T>A (p.Ala2614=)
|
rs764496589
|
|
NM_000138.5(FBN1):c.7851C>T (p.Cys2617=)
|
|
|
NM_000138.5(FBN1):c.7863C>T (p.Ser2621=)
|
rs1342441428
|
|
NM_000138.5(FBN1):c.786C>T (p.Cys262=)
|
rs1597591684
|
|
NM_000138.5(FBN1):c.789T>C (p.Ile263=)
|
rs2141353743
|
|
NM_000138.5(FBN1):c.7905C>T (p.Ala2635=)
|
|
|
NM_000138.5(FBN1):c.7932A>T (p.Gly2644=)
|
rs1597509710
|
|
NM_000138.5(FBN1):c.7962T>C (p.Ser2654=)
|
|
|
NM_000138.5(FBN1):c.7970C>T (p.Ala2657Val)
|
|
|
NM_000138.5(FBN1):c.8034C>T (p.Tyr2678=)
|
rs1597509559
|
|
NM_000138.5(FBN1):c.8037C>T (p.Phe2679=)
|
|
|
NM_000138.5(FBN1):c.8051+10G>T
|
rs1007432990
|
|
NM_000138.5(FBN1):c.8051+18T>C
|
|
|
NM_000138.5(FBN1):c.8052-10T>G
|
|
|
NM_000138.5(FBN1):c.8052-13C>T
|
|
|
NM_000138.5(FBN1):c.8052-14C>A
|
|
|
NM_000138.5(FBN1):c.8052-5T>C
|
|
|
NM_000138.5(FBN1):c.8073C>T (p.Gly2691=)
|
|
|
NM_000138.5(FBN1):c.8081G>A (p.Arg2694Gln)
|
rs371375126
|
|
NM_000138.5(FBN1):c.8082A>C (p.Arg2694=)
|
rs1597507799
|
|
NM_000138.5(FBN1):c.8089C>A (p.Pro2697Thr)
|
|
|
NM_000138.5(FBN1):c.8098C>T (p.Pro2700Ser)
|
|
|
NM_000138.5(FBN1):c.8103C>T (p.Val2701=)
|
rs1340105891
|
|
NM_000138.5(FBN1):c.810G>A (p.Glu270=)
|
|
|
NM_000138.5(FBN1):c.8121C>T (p.Asp2707=)
|
rs1566889147
|
|
NM_000138.5(FBN1):c.8136A>G (p.Pro2712=)
|
|
|
NM_000138.5(FBN1):c.8139G>A (p.Glu2713=)
|
rs2141211689
|
|
NM_000138.5(FBN1):c.8140G>T (p.Ala2714Ser)
|
|
|
NM_000138.5(FBN1):c.8148C>T (p.Tyr2716=)
|
rs112642323
|
|
NM_000138.5(FBN1):c.8157G>A (p.Lys2719=)
|
rs2042872810
|
|
NM_000138.5(FBN1):c.816A>G (p.Lys272=)
|
|
|
NM_000138.5(FBN1):c.8181C>T (p.Gly2727=)
|
|
|
NM_000138.5(FBN1):c.8185A>C (p.Lys2729Gln)
|
rs370096856
|
|
NM_000138.5(FBN1):c.819C>T (p.Cys273=)
|
|
|
NM_000138.5(FBN1):c.8222T>C (p.Ile2741Thr)
|
|
|
NM_000138.5(FBN1):c.8226+12G>A
|
rs2141211477
|
|
NM_000138.5(FBN1):c.8227-12G>A
|
|
|
NM_000138.5(FBN1):c.8227-13T>C
|
|
|
NM_000138.5(FBN1):c.8227-5dup
|
|
|
NM_000138.5(FBN1):c.8227-6T>C
|
rs1198254608
|
|
NM_000138.5(FBN1):c.8232G>C (p.Gln2744His)
|
rs376119827
|
|
NM_000138.5(FBN1):c.8235T>C (p.Ser2745=)
|
|
|
NM_000138.5(FBN1):c.8247C>T (p.Ala2749=)
|
rs1555393567
|
|
NM_000138.5(FBN1):c.8256T>C (p.Ser2752=)
|
rs2141210112
|
|
NM_000138.5(FBN1):c.8277G>A (p.Glu2759=)
|
rs1597506888
|
|
NM_000138.5(FBN1):c.8356A>G (p.Thr2786Ala)
|
rs781352764
|
|
NM_000138.5(FBN1):c.8385C>A (p.Ile2795=)
|
rs138574576
|
|
NM_000138.5(FBN1):c.846G>A (p.Val282=)
|
rs2043994063
|
|
NM_000138.5(FBN1):c.8496T>C (p.Ser2832=)
|
rs1216871823
|
|
NM_000138.5(FBN1):c.849A>G (p.Ser283=)
|
rs2141353586
|
|
NM_000138.5(FBN1):c.8500A>G (p.Thr2834Ala)
|
rs1284038548
|
|
NM_000138.5(FBN1):c.8523A>T (p.Glu2841Asp)
|
|
|
NM_000138.5(FBN1):c.8582A>T (p.Asn2861Ile)
|
rs747213800
|
|
NM_000138.5(FBN1):c.8586G>A (p.Leu2862=)
|
rs2042856515
|
|
NM_000138.5(FBN1):c.8601G>A (p.Gln2867=)
|
rs2141209442
|
|
NM_000138.5(FBN1):c.862+13A>C
|
rs2043993776
|
|
NM_000138.5(FBN1):c.862+14T>G
|
|
|
NM_000138.5(FBN1):c.863-10del
|
rs748672558
|
|
NM_000138.5(FBN1):c.863-7A>G
|
rs771131700
|
|
NM_000138.5(FBN1):c.90G>T (p.Glu30Asp)
|
rs778831047
|
|
NM_000138.5(FBN1):c.936T>C (p.Phe312=)
|
|
|
NM_000138.5(FBN1):c.948C>A (p.Pro316=)
|
|
|
NM_000138.5(FBN1):c.963C>G (p.Thr321=)
|
rs767914958
|
|
NM_000138.5(FBN1):c.972T>C (p.Asp324=)
|
|
|
NM_000138.5(FBN1):c.988+13A>G
|
|
|
NM_000138.5(FBN1):c.988+14C>A
|
|
|
NM_000138.5(FBN1):c.988+16A>G
|
|
|
NM_000138.5(FBN1):c.988+16A>T
|
|
|
NM_000138.5(FBN1):c.988+16_988+26del
|
|
|
NM_000138.5(FBN1):c.988+20G>T
|
rs375760654
|
|
NM_000138.5(FBN1):c.989-10T>A
|
|
|
NM_000138.5(FBN1):c.989-20A>G
|
|
|
NM_000138.5(FBN1):c.989-8G>A
|
|
|
NM_000243.3(MEFV):c.*466_*468del
|
rs61379197
|
|
NM_000243.3(MEFV):c.1005C>T (p.Pro335=)
|
rs567739580
|
|
NM_000243.3(MEFV):c.1014T>G (p.Val338=)
|
|
|
NM_000243.3(MEFV):c.1017T>C (p.Ser339=)
|
|
|
NM_000243.3(MEFV):c.1026C>A (p.Pro342=)
|
|
|
NM_000243.3(MEFV):c.1026C>T (p.Pro342=)
|
|
|
NM_000243.3(MEFV):c.1032C>G (p.Ala344=)
|
rs2141671903
|
|
NM_000243.3(MEFV):c.1038C>A (p.Gly346=)
|
rs141090517
|
|
NM_000243.3(MEFV):c.1041C>T (p.Ser347=)
|
|
|
NM_000243.3(MEFV):c.1074C>G (p.Ser358=)
|
rs369382646
|
|
NM_000243.3(MEFV):c.1081A>C (p.Arg361=)
|
rs2141671831
|
|
NM_000243.3(MEFV):c.1086G>A (p.Lys362=)
|
|
|
NM_000243.3(MEFV):c.1092G>A (p.Pro364=)
|
rs11466022
|
|
NM_000243.3(MEFV):c.1099C>T (p.Leu367=)
|
|
|
NM_000243.3(MEFV):c.1104C>T (p.Ser368=)
|
|
|
NM_000243.3(MEFV):c.1105C>A (p.Pro369Thr)
|
rs11466023
|
|
NM_000243.3(MEFV):c.1107C>G (p.Pro369=)
|
rs1276887157
|
|
NM_000243.3(MEFV):c.1107C>T (p.Pro369=)
|
|
|
NM_000243.3(MEFV):c.1122G>A (p.Gln374=)
|
|
|
NM_000243.3(MEFV):c.1140G>A (p.Lys380=)
|
rs2141671739
|
|
NM_000243.3(MEFV):c.1143G>A (p.Gln381=)
|
|
|
NM_000243.3(MEFV):c.1155C>A (p.Leu385=)
|
rs2141671722
|
|
NM_000243.3(MEFV):c.1164G>A (p.Glu388=)
|
|
|
NM_000243.3(MEFV):c.1170C>T (p.His390=)
|
rs1053913228
|
|
NM_000243.3(MEFV):c.117G>A (p.Arg39=)
|
|
|
NM_000243.3(MEFV):c.1182C>T (p.Ile394=)
|
rs2141671698
|
|
NM_000243.3(MEFV):c.1203T>C (p.Ser401=)
|
rs2141671682
|
|
NM_000243.3(MEFV):c.1221C>T (p.His407=)
|
|
|
NM_000243.3(MEFV):c.1230C>T (p.Arg410=)
|
|
|
NM_000243.3(MEFV):c.1239G>A (p.Glu413=)
|
|
|
NM_000243.3(MEFV):c.1248C>T (p.Ala416=)
|
|
|
NM_000243.3(MEFV):c.1251G>A (p.Leu417=)
|
rs2141671605
|
|
NM_000243.3(MEFV):c.1260+12C>T
|
|
|
NM_000243.3(MEFV):c.1260+14G>T
|
|
|
NM_000243.3(MEFV):c.1260+15C>A
|
rs1428962714
|
|
NM_000243.3(MEFV):c.1260+18G>A
|
rs104895136
|
|
NM_000243.3(MEFV):c.1260+7A>C
|
|
|
NM_000243.3(MEFV):c.1260+7A>G
|
rs1209491053
|
|
NM_000243.3(MEFV):c.1260+8C>T
|
|
|
NM_000243.3(MEFV):c.1261-10G>A
|
|
|
NM_000243.3(MEFV):c.1261-10G>C
|
rs767528614
|
|
NM_000243.3(MEFV):c.1261-16A>C
|
|
|
NM_000243.3(MEFV):c.126G>A (p.Arg42=)
|
|
|
NM_000243.3(MEFV):c.126G>C (p.Arg42=)
|
|
|
NM_000243.3(MEFV):c.1281G>A (p.Leu427=)
|
|
|
NM_000243.3(MEFV):c.1290G>C (p.Leu430=)
|
|
|
NM_000243.3(MEFV):c.129C>T (p.Ser43=)
|
rs2141679569
|
|
NM_000243.3(MEFV):c.12C>A (p.Thr4=)
|
rs2141679758
|
|
NM_000243.3(MEFV):c.1308A>G (p.Ser436=)
|
|
|
NM_000243.3(MEFV):c.1318C>G (p.Gln440Glu)
|
rs11466026
|
|
NM_000243.3(MEFV):c.1329T>C (p.Tyr443=)
|
rs2141671129
|
|
NM_000243.3(MEFV):c.1335G>A (p.Glu445=)
|
|
|
NM_000243.3(MEFV):c.1347G>A (p.Val449=)
|
|
|
NM_000243.3(MEFV):c.1352T>G (p.Phe451Cys)
|
rs1958986915
|
|
NM_000243.3(MEFV):c.1356+12G>C
|
rs587781036
|
|
NM_000243.3(MEFV):c.1356+13del
|
|
|
NM_000243.3(MEFV):c.1356+14T>A
|
|
|
NM_000243.3(MEFV):c.1356+14T>C
|
|
|
NM_000243.3(MEFV):c.1356+8C>T
|
|
|
NM_000243.3(MEFV):c.1357-13C>G
|
|
|
NM_000243.3(MEFV):c.1357-13C>T
|
|
|
NM_000243.3(MEFV):c.1357-16G>A
|
|
|
NM_000243.3(MEFV):c.1357-18C>T
|
|
|
NM_000243.3(MEFV):c.1357-27_1357-18del
|
|
|
NM_000243.3(MEFV):c.1357-4C>T
|
|
|
NM_000243.3(MEFV):c.1357-8C>T
|
|
|
NM_000243.3(MEFV):c.1357-9G>T
|
rs2141669286
|
|
NM_000243.3(MEFV):c.1368A>C (p.Glu456Asp)
|
rs1567233429
|
|
NM_000243.3(MEFV):c.1383G>A (p.Arg461=)
|
rs2141669233
|
|
NM_000243.3(MEFV):c.1386G>T (p.Val462=)
|
rs768816084
|
|
NM_000243.3(MEFV):c.1389G>A (p.Gln463=)
|
rs766949042
|
|
NM_000243.3(MEFV):c.1395G>A (p.Lys465=)
|
rs2141669220
|
|
NM_000243.3(MEFV):c.1398G>A (p.Leu466=)
|
|
|
NM_000243.3(MEFV):c.1405G>T (p.Val469Leu)
|
rs104895173
|
|
NM_000243.3(MEFV):c.1416C>T (p.Phe472=)
|
rs2141669188
|
|
NM_000243.3(MEFV):c.1419G>A (p.Leu473=)
|
|
|
NM_000243.3(MEFV):c.1431G>A (p.Glu477=)
|
rs1467779773
|
|
NM_000243.3(MEFV):c.1432C>T (p.His478Tyr)
|
rs104895105
|
|
NM_000243.3(MEFV):c.1443G>C (p.Val481=)
|
rs762403524
|
|
NM_000243.3(MEFV):c.1449A>G (p.Ser483=)
|
|
|
NM_000243.3(MEFV):c.1450C>T (p.Leu484=)
|
rs760827469
|
|
NM_000243.3(MEFV):c.1459G>A (p.Val487Met)
|
rs104895100
|
|
NM_000243.3(MEFV):c.145A>C (p.Arg49=)
|
|
|
NM_000243.3(MEFV):c.1494T>C (p.Tyr498=)
|
rs2141669050
|
|
NM_000243.3(MEFV):c.1500C>T (p.Thr500=)
|
|
|
NM_000243.3(MEFV):c.1501C>G (p.Arg501Gly)
|
rs104895101
|
|
NM_000243.3(MEFV):c.1502_1503delinsAT (p.Arg501His)
|
|
|
NM_000243.3(MEFV):c.1506A>G (p.Val502=)
|
|
|
NM_000243.3(MEFV):c.1506A>T (p.Val502=)
|
|
|
NM_000243.3(MEFV):c.1522C>T (p.Leu508=)
|
rs199937453
|
|
NM_000243.3(MEFV):c.1524G>A (p.Leu508=)
|
|
|
NM_000243.3(MEFV):c.1527C>G (p.Leu509=)
|
|
|
NM_000243.3(MEFV):c.1533G>C (p.Ala511=)
|
|
|
NM_000243.3(MEFV):c.153G>T (p.Val51=)
|
|
|
NM_000243.3(MEFV):c.1551G>A (p.Glu517=)
|
|
|
NM_000243.3(MEFV):c.1563C>T (p.Cys521=)
|
|
|
NM_000243.3(MEFV):c.1587+19G>A
|
|
|
NM_000243.3(MEFV):c.1588-17C>G
|
|
|
NM_000243.3(MEFV):c.1588-19T>G
|
|
|
NM_000243.3(MEFV):c.1590C>T (p.Asp530=)
|
|
|
NM_000243.3(MEFV):c.1610+10G>A
|
|
|
NM_000243.3(MEFV):c.1610+11G>A
|
|
|
NM_000243.3(MEFV):c.1610+16G>C
|
|
|
NM_000243.3(MEFV):c.1610+17T>C
|
|
|
NM_000243.3(MEFV):c.1610+20T>C
|
rs771674059
|
|
NM_000243.3(MEFV):c.1610+7C>T
|
|
|
NM_000243.3(MEFV):c.1611-19A>G
|
|
|
NM_000243.3(MEFV):c.1611-4C>G
|
|
|
NM_000243.3(MEFV):c.1614T>C (p.Ala538=)
|
|
|
NM_000243.3(MEFV):c.1622T>C (p.Val541Ala)
|
rs922232615
|
|
NM_000243.3(MEFV):c.1623G>A (p.Val541=)
|
|
|
NM_000243.3(MEFV):c.1629C>G (p.Val543=)
|
|
|
NM_000243.3(MEFV):c.1629C>T (p.Val543=)
|
|
|
NM_000243.3(MEFV):c.162C>T (p.Ala54=)
|
rs2141679534
|
|
NM_000243.3(MEFV):c.1638G>A (p.Lys546=)
|
|
|
NM_000243.3(MEFV):c.1671C>A (p.Ile557=)
|
|
|
NM_000243.3(MEFV):c.1685A>G (p.Gln562Arg)
|
rs1033941048
|
|
NM_000243.3(MEFV):c.1686G>A (p.Gln562=)
|
rs779244985
|
|
NM_000243.3(MEFV):c.1698T>C (p.Phe566=)
|
rs2141666345
|
|
NM_000243.3(MEFV):c.1719C>T (p.Tyr573=)
|
|
|
NM_000243.3(MEFV):c.1726+13G>A
|
|
|
NM_000243.3(MEFV):c.1727-10_1727-6del
|
|
|
NM_000243.3(MEFV):c.1727-12C>G
|
|
|
NM_000243.3(MEFV):c.1727-12C>T
|
rs1405568834
|
|
NM_000243.3(MEFV):c.1727-9A>G
|
rs1958906845
|
|
NM_000243.3(MEFV):c.1734G>A (p.Leu578=)
|
|
|
NM_000243.3(MEFV):c.1759+11C>T
|
rs370349451
|
|
NM_000243.3(MEFV):c.1759+13G>T
|
|
|
NM_000243.3(MEFV):c.1759+14T>A
|
|
|
NM_000243.3(MEFV):c.1759+14T>C
|
|
|
NM_000243.3(MEFV):c.1759+15A>G
|
rs1958905455
|
|
NM_000243.3(MEFV):c.1759+19G>T
|
rs2141666057
|
|
NM_000243.3(MEFV):c.1759+7C>G
|
|
|
NM_000243.3(MEFV):c.1759+9A>G
|
|
|
NM_000243.3(MEFV):c.1760-13T>C
|
|
|
NM_000243.3(MEFV):c.1760-19A>G
|
rs917769808
|
|
NM_000243.3(MEFV):c.1760-4G>C
|
rs79662406
|
|
NM_000243.3(MEFV):c.1760-7_1760-6del
|
|
|
NM_000243.3(MEFV):c.1760-8C>A
|
rs1567231839
|
|
NM_000243.3(MEFV):c.1763C>T (p.Pro588Leu)
|
rs775374556
|
|
NM_000243.3(MEFV):c.1764G>T (p.Pro588=)
|
rs1231122
|
|
NM_000243.3(MEFV):c.1767G>A (p.Glu589=)
|
rs879254216
|
|
NM_000243.3(MEFV):c.1773T>C (p.Ile591=)
|
|
|
NM_000243.3(MEFV):c.1773T>G (p.Ile591Met)
|
rs141706767
|
|
NM_000243.3(MEFV):c.1792+10C>G
|
|
|
NM_000243.3(MEFV):c.1792+11A>G
|
|
|
NM_000243.3(MEFV):c.1792+15C>A
|
|
|
NM_000243.3(MEFV):c.1792+15C>T
|
|
|
NM_000243.3(MEFV):c.1792+16A>G
|
|
|
NM_000243.3(MEFV):c.1792+20C>G
|
|
|
NM_000243.3(MEFV):c.1792+8C>T
|
|
|
NM_000243.3(MEFV):c.1792+9C>G
|
rs1401192826
|
|
NM_000243.3(MEFV):c.1793-14A>C
|
|
|
NM_000243.3(MEFV):c.180C>T (p.Tyr60=)
|
rs371505752
|
|
NM_000243.3(MEFV):c.1812A>G (p.Ala604=)
|
|
|
NM_000243.3(MEFV):c.1818C>G (p.Thr606=)
|
rs104895213
|
|
NM_000243.3(MEFV):c.1818C>T (p.Thr606=)
|
rs104895213
|
|
NM_000243.3(MEFV):c.1821T>C (p.Ala607=)
|
rs2141665183
|
|
NM_000243.3(MEFV):c.1824C>T (p.Tyr608=)
|
|
|
NM_000243.3(MEFV):c.1827C>A (p.Pro609=)
|
|
|
NM_000243.3(MEFV):c.183T>C (p.Tyr61=)
|
|
|
NM_000243.3(MEFV):c.1866T>C (p.Leu622=)
|
rs2141665140
|
|
NM_000243.3(MEFV):c.1884G>A (p.Arg628=)
|
|
|
NM_000243.3(MEFV):c.1887G>C (p.Leu629=)
|
rs1596350214
|
|
NM_000243.3(MEFV):c.1893T>C (p.Asp631=)
|
|
|
NM_000243.3(MEFV):c.1895G>C (p.Gly632Ala)
|
rs967990798
|
|
NM_000243.3(MEFV):c.1899G>T (p.Pro633=)
|
rs776315170
|
|
NM_000243.3(MEFV):c.1902A>G (p.Gln634=)
|
rs369107119
|
|
NM_000243.3(MEFV):c.1920C>T (p.Ile640=)
|
|
|
NM_000243.3(MEFV):c.1927C>T (p.Leu643=)
|
|
|
NM_000243.3(MEFV):c.1935T>A (p.Ser645=)
|
|
|
NM_000243.3(MEFV):c.1947C>G (p.Leu649=)
|
|
|
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.1959T>C (p.Arg653=)
|
|
|
NM_000243.3(MEFV):c.1986G>A (p.Lys662=)
|
|
|
NM_000243.3(MEFV):c.2016A>T (p.Thr672=)
|
|
|
NM_000243.3(MEFV):c.201_202delinsTT (p.Gln68Ter)
|
rs1959115695
|
|
NM_000243.3(MEFV):c.2024G>A (p.Ser675Asn)
|
rs104895087
|
|
NM_000243.3(MEFV):c.2044_2045del (p.Leu682fs)
|
rs1355225244
|
|
NM_000243.3(MEFV):c.204G>A (p.Gln68=)
|
rs902893449
|
|
NM_000243.3(MEFV):c.2064C>T (p.Tyr688=)
|
|
|
NM_000243.3(MEFV):c.2068G>C (p.Val690Leu)
|
rs1281153557
|
|
NM_000243.3(MEFV):c.2076A>T (p.Ile692=)
|
|
|
NM_000243.3(MEFV):c.2085G>A (p.Lys695=)
|
|
|
NM_000243.3(MEFV):c.2097C>T (p.Tyr699=)
|
rs1958888612
|
|
NM_000243.3(MEFV):c.210C>A (p.Thr70=)
|
|
|
NM_000243.3(MEFV):c.2112T>C (p.Val704=)
|
|
|
NM_000243.3(MEFV):c.2115C>G (p.Pro705=)
|
rs2141664787
|
|
NM_000243.3(MEFV):c.211C>T (p.Leu71=)
|
|
|
NM_000243.3(MEFV):c.2121C>G (p.Thr707=)
|
rs1366208284
|
|
NM_000243.3(MEFV):c.2121C>T (p.Thr707=)
|
rs1366208284
|
|
NM_000243.3(MEFV):c.2124C>T (p.Arg708=)
|
|
|
NM_000243.3(MEFV):c.2130A>G (p.Leu710=)
|
|
|
NM_000243.3(MEFV):c.213G>A (p.Leu71=)
|
rs2141679461
|
|
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.2160C>T (p.Ile720=)
|
|
|
NM_000243.3(MEFV):c.2208C>T (p.Ala736=)
|
rs2141664612
|
|
NM_000243.3(MEFV):c.2220C>A (p.Ile740=)
|
rs1437902207
|
|
NM_000243.3(MEFV):c.2220C>T (p.Ile740=)
|
|
|
NM_000243.3(MEFV):c.2226A>G (p.Thr742=)
|
|
|
NM_000243.3(MEFV):c.2229C>G (p.Phe743Leu)
|
rs104895152
|
|
NM_000243.3(MEFV):c.222G>A (p.Leu74=)
|
|
|
NM_000243.3(MEFV):c.2246C>G (p.Ser749Cys)
|
rs104895171
|
|
NM_000243.3(MEFV):c.2250G>A (p.Gly750=)
|
|
|
NM_000243.3(MEFV):c.2268C>T (p.Phe756=)
|
|
|
NM_000243.3(MEFV):c.2271C>T (p.Ser757=)
|
rs772754956
|
|
NM_000243.3(MEFV):c.2283T>C (p.Arg761=)
|
|
|
NM_000243.3(MEFV):c.2287G>A (p.Gly763Arg)
|
rs2141664466
|
|
NM_000243.3(MEFV):c.228C>T (p.Ala76=)
|
|
|
NM_000243.3(MEFV):c.2292G>A (p.Gly764=)
|
rs142352887
|
|
NM_000243.3(MEFV):c.2301A>G (p.Thr767=)
|
|
|
NM_000243.3(MEFV):c.2310G>T (p.Leu770=)
|
|
|
NM_000243.3(MEFV):c.2310_2313del (p.Thr771fs)
|
rs757708595
|
|
NM_000243.3(MEFV):c.2313T>A (p.Thr771=)
|
|
|
NM_000243.3(MEFV):c.243G>T (p.Leu81=)
|
|
|
NM_000243.3(MEFV):c.250G>C (p.Glu84Gln)
|
rs150819742
|
|
NM_000243.3(MEFV):c.255G>A (p.Glu85=)
|
|
|
NM_000243.3(MEFV):c.261C>T (p.His87=)
|
|
|
NM_000243.3(MEFV):c.264G>A (p.Arg88=)
|
|
|
NM_000243.3(MEFV):c.268G>C (p.Ala90Pro)
|
rs376971129
|
|
NM_000243.3(MEFV):c.277+16C>T
|
|
|
NM_000243.3(MEFV):c.277+17C>T
|
|
|
NM_000243.3(MEFV):c.277+18T>G
|
|
|
NM_000243.3(MEFV):c.277+9G>A
|
rs2141679306
|
|
NM_000243.3(MEFV):c.278-10G>T
|
|
|
NM_000243.3(MEFV):c.278-11_278-9del
|
|
|
NM_000243.3(MEFV):c.278-20G>T
|
|
|
NM_000243.3(MEFV):c.278-5T>A
|
|
|
NM_000243.3(MEFV):c.278-8C>T
|
|
|
NM_000243.3(MEFV):c.27G>A (p.Leu9=)
|
|
|
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.300C>A (p.Gly100=)
|
|
|
NM_000243.3(MEFV):c.303A>T (p.Thr101=)
|
|
|
NM_000243.3(MEFV):c.315A>G (p.Ala105=)
|
|
|
NM_000243.3(MEFV):c.321C>T (p.Ser107=)
|
|
|
NM_000243.3(MEFV):c.322A>C (p.Ser108Arg)
|
rs104895103
|
|
NM_000243.3(MEFV):c.324C>T (p.Ser108=)
|
|
|
NM_000243.3(MEFV):c.330G>A (p.Leu110=)
|
rs104895177
|
|
NM_000243.3(MEFV):c.330G>C (p.Leu110=)
|
rs104895177
|
|
NM_000243.3(MEFV):c.330G>T (p.Leu110=)
|
|
|
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.363A>C (p.Pro121=)
|
|
|
NM_000243.3(MEFV):c.366C>T (p.Asp122=)
|
rs1407541437
|
|
NM_000243.3(MEFV):c.369C>A (p.His123Gln)
|
rs587783379
|
|
NM_000243.3(MEFV):c.372C>A (p.Pro124=)
|
|
|
NM_000243.3(MEFV):c.375G>A (p.Glu125=)
|
rs104895142
|
|
NM_000243.3(MEFV):c.378G>A (p.Gly126=)
|
rs777867857
|
|
NM_000243.3(MEFV):c.378G>T (p.Gly126=)
|
rs777867857
|
|
NM_000243.3(MEFV):c.384G>A (p.Glu128=)
|
|
|
NM_000243.3(MEFV):c.387G>A (p.Gly129=)
|
rs1271293463
|
|
NM_000243.3(MEFV):c.390C>T (p.Asn130=)
|
rs780976880
|
|
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.410del (p.Gly137fs)
|
rs767006697
|
|
NM_000243.3(MEFV):c.414A>G (p.Gly138=)
|
rs224224
|
|
NM_000243.3(MEFV):c.414A>T (p.Gly138=)
|
rs224224
|
|
NM_000243.3(MEFV):c.423C>T (p.Ser141=)
|
|
|
NM_000243.3(MEFV):c.429G>A (p.Arg143=)
|
|
|
NM_000243.3(MEFV):c.436C>T (p.Gln146Ter)
|
rs876660990
|
|
NM_000243.3(MEFV):c.438G>A (p.Gln146=)
|
rs770111364
|
|
NM_000243.3(MEFV):c.439C>G (p.Pro147Ala)
|
rs876660991
|
|
NM_000243.3(MEFV):c.453G>A (p.Arg151=)
|
rs104895185
|
|
NM_000243.3(MEFV):c.462G>A (p.Ser154=)
|
rs1555459437
|
|
NM_000243.3(MEFV):c.46C>T (p.Leu16=)
|
|
|
NM_000243.3(MEFV):c.474G>C (p.Leu158=)
|
|
|
NM_000243.3(MEFV):c.497C>T (p.Ser166Leu)
|
rs766670643
|
|
NM_000243.3(MEFV):c.498G>A (p.Ser166=)
|
|
|
NM_000243.3(MEFV):c.498G>C (p.Ser166=)
|
rs763214197
|
|
NM_000243.3(MEFV):c.511G>A (p.Ala171Thr)
|
rs876660993
|
|
NM_000243.3(MEFV):c.513G>A (p.Ala171=)
|
|
|
NM_000243.3(MEFV):c.519C>G (p.Gly173=)
|
|
|
NM_000243.3(MEFV):c.525T>G (p.Pro175=)
|
|
|
NM_000243.3(MEFV):c.532C>T (p.Arg178Trp)
|
rs1555459404
|
|
NM_000243.3(MEFV):c.540G>A (p.Pro180=)
|
rs104895139
|
|
NM_000243.3(MEFV):c.546G>A (p.Leu182=)
|
rs2141677287
|
|
NM_000243.3(MEFV):c.547C>A (p.Pro183Thr)
|
rs202196752
|
|
NM_000243.3(MEFV):c.548C>T (p.Pro183Leu)
|
rs777009752
|
|
NM_000243.3(MEFV):c.549G>C (p.Pro183=)
|
|
|
NM_000243.3(MEFV):c.54C>T (p.Pro18=)
|
|
|
NM_000243.3(MEFV):c.552C>A (p.Gly184=)
|
|
|
NM_000243.3(MEFV):c.555G>C (p.Gly185=)
|
rs1959085819
|
|
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.567C>G (p.Gly189=)
|
|
|
NM_000243.3(MEFV):c.570C>A (p.Pro190=)
|
rs2141677237
|
|
NM_000243.3(MEFV):c.570C>T (p.Pro190=)
|
rs2141677237
|
|
NM_000243.3(MEFV):c.579G>T (p.Ala193=)
|
|
|
NM_000243.3(MEFV):c.582A>G (p.Leu194=)
|
rs1010348269
|
|
NM_000243.3(MEFV):c.582A>T (p.Leu194=)
|
|
|
NM_000243.3(MEFV):c.585G>A (p.Glu195=)
|
rs200766991
|
|
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.597C>T (p.Ala199=)
|
|
|
NM_000243.3(MEFV):c.618C>T (p.Asn206=)
|
rs2141677135
|
|
NM_000243.3(MEFV):c.623G>C (p.Ser208Thr)
|
rs759326778
|
|
NM_000243.3(MEFV):c.630G>A (p.Ala210=)
|
rs770830323
|
|
NM_000243.3(MEFV):c.630G>T (p.Ala210=)
|
rs770830323
|
|
NM_000243.3(MEFV):c.633G>A (p.Gly211=)
|
|
|
NM_000243.3(MEFV):c.636G>A (p.Arg212=)
|
|
|
NM_000243.3(MEFV):c.637C>T (p.Leu213=)
|
rs780525080
|
|
NM_000243.3(MEFV):c.63C>T (p.Phe21=)
|
rs1959118627
|
|
NM_000243.3(MEFV):c.645G>A (p.Gly215=)
|
rs746562155
|
|
NM_000243.3(MEFV):c.648G>A (p.Leu216=)
|
rs912301729
|
|
NM_000243.3(MEFV):c.651G>A (p.Ala217=)
|
rs886051971
|
|
NM_000243.3(MEFV):c.651G>T (p.Ala217=)
|
rs886051971
|
|
NM_000243.3(MEFV):c.657C>G (p.Gly219=)
|
|
|
NM_000243.3(MEFV):c.669G>A (p.Gln223=)
|
|
|
NM_000243.3(MEFV):c.687C>T (p.Phe229=)
|
|
|
NM_000243.3(MEFV):c.690A>G (p.Glu230=)
|
rs746500055
|
|
NM_000243.3(MEFV):c.693G>C (p.Val231=)
|
|
|
NM_000243.3(MEFV):c.696C>T (p.Tyr232=)
|
|
|
NM_000243.3(MEFV):c.697C>T (p.Leu233=)
|
rs2141676970
|
|
NM_000243.3(MEFV):c.699G>A (p.Leu233=)
|
rs2141676964
|
|
NM_000243.3(MEFV):c.702C>G (p.Pro234=)
|
|
|
NM_000243.3(MEFV):c.702C>T (p.Pro234=)
|
rs2141676956
|
|
NM_000243.3(MEFV):c.705G>A (p.Ser235=)
|
|
|
NM_000243.3(MEFV):c.717A>T (p.Arg239=)
|
rs2141676929
|
|
NM_000243.3(MEFV):c.751G>A (p.Glu251Lys)
|
rs104895111
|
|
NM_000243.3(MEFV):c.762C>G (p.Pro254=)
|
rs61300437
|
|
NM_000243.3(MEFV):c.762C>T (p.Pro254=)
|
|
|
NM_000243.3(MEFV):c.787C>T (p.Leu263=)
|
|
|
NM_000243.3(MEFV):c.803C>T (p.Ala268Val)
|
rs104895123
|
|
NM_000243.3(MEFV):c.804T>C (p.Ala268=)
|
|
|
NM_000243.3(MEFV):c.813G>A (p.Leu271=)
|
rs2141676760
|
|
NM_000243.3(MEFV):c.819G>A (p.Ser273=)
|
rs962267537
|
|
NM_000243.3(MEFV):c.831C>A (p.Pro277=)
|
|
|
NM_000243.3(MEFV):c.832C>A (p.Arg278=)
|
|
|
NM_000243.3(MEFV):c.834G>A (p.Arg278=)
|
|
|
NM_000243.3(MEFV):c.848C>G (p.Pro283Arg)
|
rs104895119
|
|
NM_000243.3(MEFV):c.849G>A (p.Pro283=)
|
rs747193370
|
|
NM_000243.3(MEFV):c.849G>T (p.Pro283=)
|
rs747193370
|
|
NM_000243.3(MEFV):c.858G>C (p.Gly286=)
|
rs1190369014
|
|
NM_000243.3(MEFV):c.867G>A (p.Ala289=)
|
rs984945497
|
|
NM_000243.3(MEFV):c.882C>T (p.Gly294=)
|
|
|
NM_000243.3(MEFV):c.894A>G (p.Pro298=)
|
rs1959077728
|
|
NM_000243.3(MEFV):c.903G>T (p.Ser301=)
|
|
|
NM_000243.3(MEFV):c.910+13C>A
|
|
|
NM_000243.3(MEFV):c.910+13C>G
|
|
|
NM_000243.3(MEFV):c.910+16T>C
|
|
|
NM_000243.3(MEFV):c.910+17C>T
|
|
|
NM_000243.3(MEFV):c.910+18C>T
|
|
|
NM_000243.3(MEFV):c.911-11C>T
|
|
|
NM_000243.3(MEFV):c.911-14C>T
|
|
|
NM_000243.3(MEFV):c.911-15A>G
|
|
|
NM_000243.3(MEFV):c.911-4C>T
|
rs1196184630
|
|
NM_000243.3(MEFV):c.911-5C>A
|
|
|
NM_000243.3(MEFV):c.911-5C>T
|
|
|
NM_000243.3(MEFV):c.911-9T>C
|
rs1596355109
|
|
NM_000243.3(MEFV):c.933G>A (p.Ala311=)
|
rs774547197
|
|
NM_000243.3(MEFV):c.939C>T (p.Pro313=)
|
|
|
NM_000243.3(MEFV):c.951C>T (p.Ala317=)
|
|
|
NM_000243.3(MEFV):c.954G>A (p.Gln318=)
|
|
|
NM_000243.3(MEFV):c.966A>G (p.Pro322=)
|
|
|
NM_000243.3(MEFV):c.981T>C (p.Cys327=)
|
rs1275216443
|
|
NM_000302.4(PLOD1):c.1038T>G (p.Ser346=)
|
|
|
NM_000302.4(PLOD1):c.1050G>C (p.Val350=)
|
|
|
NM_000302.4(PLOD1):c.1077A>G (p.Ala359=)
|
rs1569713675
|
|
NM_000302.4(PLOD1):c.1097+11G>C
|
|
|
NM_000302.4(PLOD1):c.1097+13C>T
|
|
|
NM_000302.4(PLOD1):c.1097+14C>T
|
|
|
NM_000302.4(PLOD1):c.1097+17A>C
|
|
|
NM_000302.4(PLOD1):c.1097+17A>G
|
|
|
NM_000302.4(PLOD1):c.1097+17A>T
|
|
|
NM_000302.4(PLOD1):c.1097+17dup
|
|
|
NM_000302.4(PLOD1):c.1097+18G>C
|
|
|
NM_000302.4(PLOD1):c.1097+7T>C
|
|
|
NM_000302.4(PLOD1):c.1098-11C>T
|
|
|
NM_000302.4(PLOD1):c.1098-13C>G
|
|
|
NM_000302.4(PLOD1):c.1098-13C>T
|
rs372681138
|
|
NM_000302.4(PLOD1):c.1098-19T>C
|
|
|
NM_000302.4(PLOD1):c.1098-20C>T
|
|
|
NM_000302.4(PLOD1):c.1098-20_1098-19del
|
|
|
NM_000302.4(PLOD1):c.1098-5T>C
|
|
|
NM_000302.4(PLOD1):c.1098-8C>G
|
|
|
NM_000302.4(PLOD1):c.10C>T (p.Leu4=)
|
|
|
NM_000302.4(PLOD1):c.1101C>T (p.Asp367=)
|
|
|
NM_000302.4(PLOD1):c.1102C>T (p.Leu368=)
|
|
|
NM_000302.4(PLOD1):c.114C>T (p.Thr38=)
|
rs11553679
|
|
NM_000302.4(PLOD1):c.1170C>T (p.Pro390=)
|
rs1482515706
|
|
NM_000302.4(PLOD1):c.1179G>A (p.Leu393=)
|
|
|
NM_000302.4(PLOD1):c.1186C>T (p.Leu396=)
|
|
|
NM_000302.4(PLOD1):c.1191C>A (p.Ile397=)
|
rs899107980
|
|
NM_000302.4(PLOD1):c.1202+11T>A
|
|
|
NM_000302.4(PLOD1):c.1202+12C>A
|
|
|
NM_000302.4(PLOD1):c.1202+13C>T
|
|
|
NM_000302.4(PLOD1):c.1202+15T>C
|
|
|
NM_000302.4(PLOD1):c.1202+19C>T
|
|
|
NM_000302.4(PLOD1):c.1202+9G>C
|
|
|
NM_000302.4(PLOD1):c.1203-10C>G
|
rs1569721056
|
|
NM_000302.4(PLOD1):c.1203-13T>C
|
|
|
NM_000302.4(PLOD1):c.1203-16del
|
|
|
NM_000302.4(PLOD1):c.1230G>T (p.Arg410=)
|
|
|
NM_000302.4(PLOD1):c.1233T>C (p.His411=)
|
|
|
NM_000302.4(PLOD1):c.1248G>A (p.Ser416=)
|
|
|
NM_000302.4(PLOD1):c.1281C>T (p.Tyr427=)
|
|
|
NM_000302.4(PLOD1):c.1284T>C (p.Tyr428=)
|
|
|
NM_000302.4(PLOD1):c.1305G>A (p.Val435=)
|
|
|
NM_000302.4(PLOD1):c.1321C>A (p.Arg441=)
|
rs11553676
|
|
NM_000302.4(PLOD1):c.1328+16G>A
|
|
|
NM_000302.4(PLOD1):c.1329-13G>A
|
|
|
NM_000302.4(PLOD1):c.1329-6C>T
|
|
|
NM_000302.4(PLOD1):c.1344G>A (p.Val448=)
|
|
|
NM_000302.4(PLOD1):c.1347C>G (p.Pro449=)
|
|
|
NM_000302.4(PLOD1):c.1356A>T (p.Ser452=)
|
|
|
NM_000302.4(PLOD1):c.1359C>T (p.Asn453=)
|
|
|
NM_000302.4(PLOD1):c.1386G>A (p.Leu462=)
|
|
|
NM_000302.4(PLOD1):c.1401G>A (p.Gln467=)
|
rs2100758313
|
|
NM_000302.4(PLOD1):c.1419C>T (p.His473=)
|
|
|
NM_000302.4(PLOD1):c.1437C>T (p.Pro479=)
|
|
|
NM_000302.4(PLOD1):c.1464G>A (p.Arg488=)
|
rs2100758413
|
|
NM_000302.4(PLOD1):c.1470+11A>G
|
rs768467070
|
|
NM_000302.4(PLOD1):c.1470+12G>A
|
|
|
NM_000302.4(PLOD1):c.1470+13C>T
|
|
|
NM_000302.4(PLOD1):c.1470+18A>G
|
|
|
NM_000302.4(PLOD1):c.1471-13C>T
|
|
|
NM_000302.4(PLOD1):c.1471-16G>T
|
|
|
NM_000302.4(PLOD1):c.1471-17G>C
|
|
|
NM_000302.4(PLOD1):c.1471-17G>T
|
|
|
NM_000302.4(PLOD1):c.1471-18del
|
|
|
NM_000302.4(PLOD1):c.1471-20A>G
|
|
|
NM_000302.4(PLOD1):c.1471-4C>T
|
|
|
NM_000302.4(PLOD1):c.1471-8C>G
|
|
|
NM_000302.4(PLOD1):c.1471-9_1471-8delinsGT
|
rs1553136318
|
|
NM_000302.4(PLOD1):c.1479C>T (p.Phe493=)
|
|
|
NM_000302.4(PLOD1):c.1494C>T (p.Asn498=)
|
rs1645810603
|
|
NM_000302.4(PLOD1):c.1546C>T (p.Leu516=)
|
|
|
NM_000302.4(PLOD1):c.1548G>C (p.Leu516=)
|
|
|
NM_000302.4(PLOD1):c.1560C>T (p.Leu520=)
|
|
|
NM_000302.4(PLOD1):c.1578C>T (p.Asn526=)
|
|
|
NM_000302.4(PLOD1):c.1584+11G>C
|
|
|
NM_000302.4(PLOD1):c.1584+12G>T
|
|
|
NM_000302.4(PLOD1):c.1584+16G>A
|
|
|
NM_000302.4(PLOD1):c.1584+20A>G
|
|
|
NM_000302.4(PLOD1):c.1585-11A>T
|
|
|
NM_000302.4(PLOD1):c.1585-17CTTCCCA[3]
|
|
|
NM_000302.4(PLOD1):c.1585-19T>C
|
rs1645816365
|
|
NM_000302.4(PLOD1):c.1585-5C>A
|
|
|
NM_000302.4(PLOD1):c.1585-7C>T
|
|
|
NM_000302.4(PLOD1):c.1585-9T>G
|
|
|
NM_000302.4(PLOD1):c.159C>T (p.Tyr53=)
|
rs1569682156
|
|
NM_000302.4(PLOD1):c.1605C>T (p.Ile535=)
|
|
|
NM_000302.4(PLOD1):c.1614C>T (p.Asn538=)
|
|
|
NM_000302.4(PLOD1):c.1627C>T (p.Leu543=)
|
|
|
NM_000302.4(PLOD1):c.1632A>T (p.Ala544=)
|
|
|
NM_000302.4(PLOD1):c.1635G>A (p.Gly545=)
|
rs2100760044
|
|
NM_000302.4(PLOD1):c.1638G>A (p.Lys546=)
|
rs1569726862
|
|
NM_000302.4(PLOD1):c.1650+11T>C
|
|
|
NM_000302.4(PLOD1):c.1650+12G>A
|
|
|
NM_000302.4(PLOD1):c.1650+13del
|
|
|
NM_000302.4(PLOD1):c.1650+15C>T
|
|
|
NM_000302.4(PLOD1):c.1650+16_1650+19del
|
|
|
NM_000302.4(PLOD1):c.1650+18C>A
|
|
|
NM_000302.4(PLOD1):c.1650+19C>T
|
|
|
NM_000302.4(PLOD1):c.1650+20T>C
|
|
|
NM_000302.4(PLOD1):c.1650+8C>T
|
|
|
NM_000302.4(PLOD1):c.1651-16T>A
|
|
|
NM_000302.4(PLOD1):c.1651-19G>A
|
|
|
NM_000302.4(PLOD1):c.1653C>A (p.Pro551=)
|
|
|
NM_000302.4(PLOD1):c.1665C>T (p.Val555=)
|
|
|
NM_000302.4(PLOD1):c.168+16G>A
|
|
|
NM_000302.4(PLOD1):c.168+9T>C
|
|
|
NM_000302.4(PLOD1):c.1686G>A (p.Thr562=)
|
rs565216977
|
|
NM_000302.4(PLOD1):c.169-11T>C
|
rs760584840
|
|
NM_000302.4(PLOD1):c.169-12G>A
|
|
|
NM_000302.4(PLOD1):c.169-16G>A
|
|
|
NM_000302.4(PLOD1):c.169-17G>A
|
|
|
NM_000302.4(PLOD1):c.169-4C>T
|
|
|
NM_000302.4(PLOD1):c.1692G>A (p.Val564=)
|
|
|
NM_000302.4(PLOD1):c.1710G>A (p.Val570=)
|
|
|
NM_000302.4(PLOD1):c.1713G>A (p.Glu571=)
|
|
|
NM_000302.4(PLOD1):c.171G>A (p.Ala57=)
|
|
|
NM_000302.4(PLOD1):c.1722G>A (p.Glu574=)
|
|
|
NM_000302.4(PLOD1):c.174T>G (p.Leu58=)
|
rs2100743311
|
|
NM_000302.4(PLOD1):c.1752C>T (p.Asn584=)
|
|
|
NM_000302.4(PLOD1):c.1755+20G>T
|
|
|
NM_000302.4(PLOD1):c.1755+9C>G
|
|
|
NM_000302.4(PLOD1):c.1755+9C>T
|
|
|
NM_000302.4(PLOD1):c.1756-12G>T
|
|
|
NM_000302.4(PLOD1):c.1756-13C>G
|
|
|
NM_000302.4(PLOD1):c.1756-15C>G
|
|
|
NM_000302.4(PLOD1):c.1756-6C>A
|
|
|
NM_000302.4(PLOD1):c.1756-7C>T
|
|
|
NM_000302.4(PLOD1):c.1756-9C>T
|
|
|
NM_000302.4(PLOD1):c.1764C>T (p.Arg588=)
|
|
|
NM_000302.4(PLOD1):c.1773T>C (p.Gly591=)
|
|
|
NM_000302.4(PLOD1):c.1779C>T (p.Tyr593=)
|
|
|
NM_000302.4(PLOD1):c.1785C>T (p.Asn595=)
|
|
|
NM_000302.4(PLOD1):c.1791G>A (p.Pro597=)
|
rs151051718
|
|
NM_000302.4(PLOD1):c.1791G>C (p.Pro597=)
|
rs151051718
|
|
NM_000302.4(PLOD1):c.1794T>G (p.Thr598=)
|
rs773916889
|
|
NM_000302.4(PLOD1):c.1800C>T (p.Asp600=)
|
|
|
NM_000302.4(PLOD1):c.1803C>T (p.Ile601=)
|
|
|
NM_000302.4(PLOD1):c.1806C>T (p.His602=)
|
|
|
NM_000302.4(PLOD1):c.180A>G (p.Leu60=)
|
|
|
NM_000302.4(PLOD1):c.1815G>A (p.Gln605=)
|
|
|
NM_000302.4(PLOD1):c.1818C>T (p.Ile606=)
|
rs372579008
|
|
NM_000302.4(PLOD1):c.1833G>A (p.Glu611=)
|
|
|
NM_000302.4(PLOD1):c.183G>A (p.Gly61=)
|
|
|
NM_000302.4(PLOD1):c.1863G>A (p.Ala621=)
|
rs912522044
|
|
NM_000302.4(PLOD1):c.1866C>G (p.Pro622=)
|
|
|
NM_000302.4(PLOD1):c.1866C>T (p.Pro622=)
|
|
|
NM_000302.4(PLOD1):c.1878G>A (p.Lys626=)
|
|
|
NM_000302.4(PLOD1):c.1884C>T (p.Tyr628=)
|
|
|
NM_000302.4(PLOD1):c.1887C>G (p.Pro629=)
|
|
|
NM_000302.4(PLOD1):c.1896C>T (p.Tyr632=)
|
|
|
NM_000302.4(PLOD1):c.189C>T (p.Asp63=)
|
rs1259023201
|
|
NM_000302.4(PLOD1):c.1903-12G>C
|
|
|
NM_000302.4(PLOD1):c.1903-14dup
|
rs748794198
|
|
NM_000302.4(PLOD1):c.1903-15C>T
|
|
|
NM_000302.4(PLOD1):c.1903-17C>T
|
|
|
NM_000302.4(PLOD1):c.1903-18C>A
|
rs750758605
|
|
NM_000302.4(PLOD1):c.1903-18C>T
|
rs750758605
|
|
NM_000302.4(PLOD1):c.1903-20del
|
|
|
NM_000302.4(PLOD1):c.1905C>G (p.Ala635=)
|
|
|
NM_000302.4(PLOD1):c.1905C>T (p.Ala635=)
|
|
|
NM_000302.4(PLOD1):c.1908G>A (p.Gln636=)
|
|
|
NM_000302.4(PLOD1):c.1911T>C (p.Phe637=)
|
|
|
NM_000302.4(PLOD1):c.1929C>T (p.Val643=)
|
rs752137195
|
|
NM_000302.4(PLOD1):c.1947G>A (p.Glu649=)
|
|
|
NM_000302.4(PLOD1):c.1957C>T (p.Leu653=)
|
|
|
NM_000302.4(PLOD1):c.1968C>T (p.His656=)
|
|
|
NM_000302.4(PLOD1):c.1971T>C (p.His657=)
|
|
|
NM_000302.4(PLOD1):c.1977C>T (p.Ala659=)
|
|
|
NM_000302.4(PLOD1):c.1986C>T (p.Phe662=)
|
|
|
NM_000302.4(PLOD1):c.2025C>T (p.Tyr675=)
|
|
|
NM_000302.4(PLOD1):c.2028+12C>A
|
|
|
NM_000302.4(PLOD1):c.2028+12C>G
|
|
|
NM_000302.4(PLOD1):c.2028+16C>G
|
|
|
NM_000302.4(PLOD1):c.2028+17C>G
|
|
|
NM_000302.4(PLOD1):c.2028+18G>A
|
|
|
NM_000302.4(PLOD1):c.2028+7A>C
|
|
|
NM_000302.4(PLOD1):c.2029-20T>C
|
|
|
NM_000302.4(PLOD1):c.2029-20T>G
|
|
|
NM_000302.4(PLOD1):c.2029-3del
|
rs1273287120
|
|
NM_000302.4(PLOD1):c.2031C>T (p.Gly677=)
|
|
|
NM_000302.4(PLOD1):c.2034G>A (p.Gly678=)
|
|
|
NM_000302.4(PLOD1):c.2043G>T (p.Arg681=)
|
rs2100768727
|
|
NM_000302.4(PLOD1):c.2055C>T (p.Tyr685=)
|
|
|
NM_000302.4(PLOD1):c.2085C>G (p.Gly695=)
|
|
|
NM_000302.4(PLOD1):c.210G>A (p.Thr70=)
|
|
|
NM_000302.4(PLOD1):c.2115G>A (p.Thr705=)
|
|
|
NM_000302.4(PLOD1):c.2115G>T (p.Thr705=)
|
|
|
NM_000302.4(PLOD1):c.2130G>A (p.Gly710=)
|
|
|
NM_000302.4(PLOD1):c.2136C>A (p.Pro712=)
|
|
|
NM_000302.4(PLOD1):c.2136C>T (p.Pro712=)
|
|
|
NM_000302.4(PLOD1):c.2139C>T (p.Thr713=)
|
|
|
NM_000302.4(PLOD1):c.213G>A (p.Ser71=)
|
|
|
NM_000302.4(PLOD1):c.2157C>T (p.Tyr719=)
|
|
|
NM_000302.4(PLOD1):c.2163A>C (p.Ala721=)
|
|
|
NM_000302.4(PLOD1):c.2169C>T (p.Ser723=)
|
|
|
NM_000302.4(PLOD1):c.2178T>C (p.Asp726=)
|
|
|
NM_000302.4(PLOD1):c.25C>T (p.Leu9=)
|
|
|
NM_000302.4(PLOD1):c.264C>T (p.His88=)
|
|
|
NM_000302.4(PLOD1):c.297A>G (p.Ala99=)
|
rs2100743542
|
|
NM_000302.4(PLOD1):c.302+6_302+7insCTTTGCA
|
|
|
NM_000302.4(PLOD1):c.303-13G>C
|
|
|
NM_000302.4(PLOD1):c.303-14T>C
|
|
|
NM_000302.4(PLOD1):c.303-17C>T
|
|
|
NM_000302.4(PLOD1):c.303-18T>G
|
rs2100743986
|
|
NM_000302.4(PLOD1):c.303-18_303-17del
|
rs2100743981
|
|
NM_000302.4(PLOD1):c.303-20T>G
|
|
|
NM_000302.4(PLOD1):c.303-6C>T
|
rs2100744004
|
|
NM_000302.4(PLOD1):c.30G>A (p.Leu10=)
|
rs886039113
|
|
NM_000302.4(PLOD1):c.312G>C (p.Val104=)
|
|
|
NM_000302.4(PLOD1):c.313C>T (p.Leu105=)
|
rs1557487050
|
|
NM_000302.4(PLOD1):c.315G>A (p.Leu105=)
|
|
|
NM_000302.4(PLOD1):c.33C>T (p.Gly11=)
|
rs2100729686
|
|
NM_000302.4(PLOD1):c.340C>T (p.Leu114=)
|
|
|
NM_000302.4(PLOD1):c.345G>A (p.Lys115=)
|
|
|
NM_000302.4(PLOD1):c.351C>T (p.Phe117=)
|
|
|
NM_000302.4(PLOD1):c.360C>G (p.Ala120=)
|
|
|
NM_000302.4(PLOD1):c.384T>G (p.Ala128=)
|
|
|
NM_000302.4(PLOD1):c.396C>T (p.Ile132=)
|
rs999062403
|
|
NM_000302.4(PLOD1):c.417G>A (p.Glu139=)
|
|
|
NM_000302.4(PLOD1):c.423G>A (p.Lys141=)
|
|
|
NM_000302.4(PLOD1):c.429G>A (p.Pro143=)
|
|
|
NM_000302.4(PLOD1):c.429G>T (p.Pro143=)
|
|
|
NM_000302.4(PLOD1):c.466+10C>G
|
|
|
NM_000302.4(PLOD1):c.466+13G>T
|
|
|
NM_000302.4(PLOD1):c.466+20G>A
|
|
|
NM_000302.4(PLOD1):c.466+7G>A
|
|
|
NM_000302.4(PLOD1):c.467-12A>G
|
|
|
NM_000302.4(PLOD1):c.467-13_467-6del
|
|
|
NM_000302.4(PLOD1):c.467-14C>T
|
|
|
NM_000302.4(PLOD1):c.467-19C>T
|
|
|
NM_000302.4(PLOD1):c.467-20C>T
|
rs1645710680
|
|
NM_000302.4(PLOD1):c.467-6C>A
|
|
|
NM_000302.4(PLOD1):c.467-8A>C
|
|
|
NM_000302.4(PLOD1):c.474C>A (p.Ile158=)
|
|
|
NM_000302.4(PLOD1):c.474C>T (p.Ile158=)
|
|
|
NM_000302.4(PLOD1):c.486C>A (p.Pro162=)
|
|
|
NM_000302.4(PLOD1):c.48C>T (p.Ala16=)
|
|
|
NM_000302.4(PLOD1):c.507C>T (p.Ala169=)
|
|
|
NM_000302.4(PLOD1):c.510G>A (p.Glu170=)
|
|
|
NM_000302.4(PLOD1):c.528C>T (p.Ser176=)
|
|
|
NM_000302.4(PLOD1):c.535G>T (p.Asp179Tyr)
|
rs188165334
|
|
NM_000302.4(PLOD1):c.541C>T (p.Leu181=)
|
|
|
NM_000302.4(PLOD1):c.543G>C (p.Leu181=)
|
|
|
NM_000302.4(PLOD1):c.555G>T (p.Lys185Asn)
|
rs142978362
|
|
NM_000302.4(PLOD1):c.558C>T (p.Ile186=)
|
|
|
NM_000302.4(PLOD1):c.567C>T (p.Asp189=)
|
|
|
NM_000302.4(PLOD1):c.576G>A (p.Lys192=)
|
rs1645712079
|
|
NM_000302.4(PLOD1):c.579+12T>C
|
|
|
NM_000302.4(PLOD1):c.579+8G>A
|
|
|
NM_000302.4(PLOD1):c.579+8G>T
|
|
|
NM_000302.4(PLOD1):c.580-10T>C
|
rs1645726829
|
|
NM_000302.4(PLOD1):c.580-11C>G
|
|
|
NM_000302.4(PLOD1):c.580-12T>A
|
|
|
NM_000302.4(PLOD1):c.580-13T>G
|
|
|
NM_000302.4(PLOD1):c.580-16A>G
|
|
|
NM_000302.4(PLOD1):c.580-19G>A
|
|
|
NM_000302.4(PLOD1):c.580-20T>G
|
|
|
NM_000302.4(PLOD1):c.580-4G>T
|
|
|
NM_000302.4(PLOD1):c.580-7C>T
|
|
|
NM_000302.4(PLOD1):c.582G>A (p.Glu194=)
|
|
|
NM_000302.4(PLOD1):c.598C>T (p.Leu200=)
|
|
|
NM_000302.4(PLOD1):c.603C>T (p.Asp201=)
|
|
|
NM_000302.4(PLOD1):c.609C>G (p.Arg203=)
|
|
|
NM_000302.4(PLOD1):c.60C>T (p.Gly20=)
|
|
|
NM_000302.4(PLOD1):c.618C>A (p.Ile206=)
|
|
|
NM_000302.4(PLOD1):c.624G>A (p.Gln208=)
|
|
|
NM_000302.4(PLOD1):c.627C>T (p.Asn209=)
|
rs2100748753
|
|
NM_000302.4(PLOD1):c.628C>T (p.Leu210=)
|
|
|
NM_000302.4(PLOD1):c.639C>T (p.Ala213=)
|
|
|
NM_000302.4(PLOD1):c.643+10C>T
|
|
|
NM_000302.4(PLOD1):c.643+12C>T
|
|
|
NM_000302.4(PLOD1):c.643+13C>G
|
|
|
NM_000302.4(PLOD1):c.643+16G>C
|
|
|
NM_000302.4(PLOD1):c.643+19G>A
|
|
|
NM_000302.4(PLOD1):c.643+20A>T
|
|
|
NM_000302.4(PLOD1):c.644-15C>T
|
|
|
NM_000302.4(PLOD1):c.644-17_644-16del
|
rs755109500
|
|
NM_000302.4(PLOD1):c.644-18G>A
|
|
|
NM_000302.4(PLOD1):c.648G>A (p.Glu216=)
|
rs150852515
|
|
NM_000302.4(PLOD1):c.651C>G (p.Val217=)
|
|
|
NM_000302.4(PLOD1):c.654G>A (p.Val218=)
|
|
|
NM_000302.4(PLOD1):c.702C>G (p.Asp234Glu)
|
rs566018612
|
|
NM_000302.4(PLOD1):c.711G>A (p.Pro237=)
|
|
|
NM_000302.4(PLOD1):c.720C>T (p.Ile240=)
|
rs770749842
|
|
NM_000302.4(PLOD1):c.723T>C (p.His241=)
|
rs2100750549
|
|
NM_000302.4(PLOD1):c.726C>T (p.Gly242=)
|
|
|
NM_000302.4(PLOD1):c.729C>T (p.Asn243=)
|
|
|
NM_000302.4(PLOD1):c.72G>A (p.Pro24=)
|
rs1645566983
|
|
NM_000302.4(PLOD1):c.72G>T (p.Pro24=)
|
|
|
NM_000302.4(PLOD1):c.741+11C>T
|
|
|
NM_000302.4(PLOD1):c.741+12C>T
|
|
|
NM_000302.4(PLOD1):c.741+13C>G
|
|
|
NM_000302.4(PLOD1):c.741+13C>T
|
rs2100750594
|
|
NM_000302.4(PLOD1):c.741+16C>T
|
|
|
NM_000302.4(PLOD1):c.741+19C>G
|
|
|
NM_000302.4(PLOD1):c.741+8G>T
|
|
|
NM_000302.4(PLOD1):c.742-13G>A
|
|
|
NM_000302.4(PLOD1):c.742-14C>A
|
|
|
NM_000302.4(PLOD1):c.742-14C>T
|
|
|
NM_000302.4(PLOD1):c.742-9C>A
|
|
|
NM_000302.4(PLOD1):c.744G>A (p.Leu248=)
|
|
|
NM_000302.4(PLOD1):c.759G>A (p.Leu253=)
|
|
|
NM_000302.4(PLOD1):c.759G>C (p.Leu253=)
|
rs762271097
|
|
NM_000302.4(PLOD1):c.76+10C>T
|
rs2100729726
|
|
NM_000302.4(PLOD1):c.76+11G>A
|
|
|
NM_000302.4(PLOD1):c.76+13A>C
|
|
|
NM_000302.4(PLOD1):c.76+14G>A
|
|
|
NM_000302.4(PLOD1):c.76+15G>T
|
|
|
NM_000302.4(PLOD1):c.76+19G>A
|
|
|
NM_000302.4(PLOD1):c.76+20G>A
|
|
|
NM_000302.4(PLOD1):c.77-13C>A
|
|
|
NM_000302.4(PLOD1):c.77-13C>T
|
|
|
NM_000302.4(PLOD1):c.77-16C>T
|
|
|
NM_000302.4(PLOD1):c.77-17C>A
|
|
|
NM_000302.4(PLOD1):c.77-17C>T
|
rs748925361
|
|
NM_000302.4(PLOD1):c.77-18A>G
|
|
|
NM_000302.4(PLOD1):c.77-19T>C
|
|
|
NM_000302.4(PLOD1):c.77-20A>C
|
|
|
NM_000302.4(PLOD1):c.77-20A>G
|
|
|
NM_000302.4(PLOD1):c.77-3320G>C
|
rs2100738654
|
|
NM_000302.4(PLOD1):c.77-3351T>C
|
rs1397591568
|
|
NM_000302.4(PLOD1):c.77-6C>G
|
|
|
NM_000302.4(PLOD1):c.771C>T (p.Ile257=)
|
|
|
NM_000302.4(PLOD1):c.777C>T (p.Arg259=)
|
rs1473839953
|
|
NM_000302.4(PLOD1):c.825C>T (p.Arg275=)
|
|
|
NM_000302.4(PLOD1):c.828C>T (p.Ser276=)
|
|
|
NM_000302.4(PLOD1):c.843+11G>A
|
|
|
NM_000302.4(PLOD1):c.843+14C>T
|
|
|
NM_000302.4(PLOD1):c.843+15A>G
|
|
|
NM_000302.4(PLOD1):c.844-10C>T
|
rs2100752088
|
|
NM_000302.4(PLOD1):c.844-12T>C
|
|
|
NM_000302.4(PLOD1):c.844-13C>T
|
|
|
NM_000302.4(PLOD1):c.844-14C>T
|
|
|
NM_000302.4(PLOD1):c.844-15C>T
|
|
|
NM_000302.4(PLOD1):c.844-16G>T
|
|
|
NM_000302.4(PLOD1):c.844-17C>T
|
|
|
NM_000302.4(PLOD1):c.844-6G>C
|
|
|
NM_000302.4(PLOD1):c.844-9C>T
|
|
|
NM_000302.4(PLOD1):c.855G>A (p.Leu285=)
|
|
|
NM_000302.4(PLOD1):c.858C>T (p.Pro286=)
|
|
|
NM_000302.4(PLOD1):c.861G>T (p.Thr287=)
|
|
|
NM_000302.4(PLOD1):c.864C>T (p.Val288=)
|
|
|
NM_000302.4(PLOD1):c.873C>A (p.Gly291=)
|
|
|
NM_000302.4(PLOD1):c.876G>A (p.Val292=)
|
|
|
NM_000302.4(PLOD1):c.907C>T (p.Leu303=)
|
|
|
NM_000302.4(PLOD1):c.90C>T (p.Val30=)
|
|
|
NM_000302.4(PLOD1):c.921G>A (p.Arg307=)
|
rs754534604
|
|
NM_000302.4(PLOD1):c.942C>G (p.Pro314=)
|
|
|
NM_000302.4(PLOD1):c.955C>A (p.Arg319=)
|
|
|
NM_000302.4(PLOD1):c.963C>T (p.Phe321=)
|
rs2100752293
|
|
NM_000302.4(PLOD1):c.96G>A (p.Thr32=)
|
|
|
NM_000302.4(PLOD1):c.976-14A>G
|
|
|
NM_000302.4(PLOD1):c.976-15C>A
|
|
|
NM_000302.4(PLOD1):c.976-17C>T
|
|
|
NM_000302.4(PLOD1):c.976-18C>T
|
|
|
NM_000302.4(PLOD1):c.999G>A (p.Val333=)
|
|
|
NM_000302.4(PLOD1):c.9C>T (p.Pro3=)
|
|
|
NM_000321.3(RB1):c.485T>A (p.Phe162Tyr)
|
rs764881599
|
|
NM_000388.4(CASR):c.-378del
|
rs537119483
|
|
NM_000388.4(CASR):c.1008G>C (p.Lys336Asn)
|
rs548403340
|
|
NM_000388.4(CASR):c.1116C>T (p.Thr372=)
|
rs539867627
|
|
NM_000388.4(CASR):c.1164G>A (p.Ser388=)
|
rs200898785
|
|
NM_000388.4(CASR):c.2439C>T (p.Ile813=)
|
rs1228810304
|
|
NM_000388.4(CASR):c.3234A>G (p.Ser1078=)
|
rs556263764
|
|
NM_000388.4(CASR):c.493-12G>T
|
rs199514129
|
|
NM_000388.4(CASR):c.54T>G (p.Ser18=)
|
rs558522564
|
|
NM_000388.4(CASR):c.876C>T (p.Ile292=)
|
rs772232871
|
|
NM_000393.5(COL5A2):c.150C>T (p.Asn50=)
|
rs1559108847
|
|
NM_000431.4(MVK):c.*58dup
|
rs397714540
|
|
NM_000431.4(MVK):c.1008T>C (p.Gly336=)
|
|
|
NM_000431.4(MVK):c.1029C>T (p.Leu343=)
|
|
|
NM_000431.4(MVK):c.1039+7dup
|
|
|
NM_000431.4(MVK):c.1039+8G>A
|
|
|
NM_000431.4(MVK):c.1039+8G>C
|
rs765989100
|
|
NM_000431.4(MVK):c.1040-15C>T
|
|
|
NM_000431.4(MVK):c.1040-19C>T
|
|
|
NM_000431.4(MVK):c.1040-5C>T
|
rs150276185
|
|
NM_000431.4(MVK):c.1042C>T (p.Leu348=)
|
|
|
NM_000431.4(MVK):c.1059G>A (p.Val353=)
|
rs2136257119
|
|
NM_000431.4(MVK):c.1062G>A (p.Glu354=)
|
|
|
NM_000431.4(MVK):c.1068G>A (p.Thr356=)
|
|
|
NM_000431.4(MVK):c.1071G>A (p.Lys357=)
|
|
|
NM_000431.4(MVK):c.1078C>T (p.Leu360=)
|
|
|
NM_000431.4(MVK):c.1092C>T (p.Gly364=)
|
|
|
NM_000431.4(MVK):c.1098C>T (p.Asp366=)
|
|
|
NM_000431.4(MVK):c.1101C>T (p.Cys367=)
|
|
|
NM_000431.4(MVK):c.1102T>C (p.Leu368=)
|
|
|
NM_000431.4(MVK):c.1110C>T (p.Thr370=)
|
rs2136257338
|
|
NM_000431.4(MVK):c.1113C>T (p.Ser371=)
|
|
|
NM_000431.4(MVK):c.1122C>T (p.Ala374=)
|
|
|
NM_000431.4(MVK):c.1137C>T (p.Ile379=)
|
|
|
NM_000431.4(MVK):c.1140C>T (p.His380=)
|
|
|
NM_000431.4(MVK):c.1143A>C (p.Ser381=)
|
|
|
NM_000431.4(MVK):c.1143A>T (p.Ser381=)
|
|
|
NM_000431.4(MVK):c.1149C>T (p.Thr383=)
|
|
|
NM_000431.4(MVK):c.1161C>T (p.Ser387=)
|
|
|
NM_000431.4(MVK):c.1167C>T (p.Val389=)
|
|
|
NM_000431.4(MVK):c.1176C>A (p.Ala392=)
|
|
|
NM_000431.4(MVK):c.126A>G (p.Gln42=)
|
|
|
NM_000431.4(MVK):c.129C>A (p.Pro43=)
|
|
|
NM_000431.4(MVK):c.135C>T (p.Ser45=)
|
|
|
NM_000431.4(MVK):c.144A>G (p.Lys48=)
|
rs2136218745
|
|
NM_000431.4(MVK):c.147G>A (p.Val49=)
|
|
|
NM_000431.4(MVK):c.153C>T (p.Leu51=)
|
|
|
NM_000431.4(MVK):c.15C>T (p.Val5=)
|
|
|
NM_000431.4(MVK):c.162C>T (p.Pro54=)
|
rs2136218809
|
|
NM_000431.4(MVK):c.168T>C (p.Ile56=)
|
|
|
NM_000431.4(MVK):c.192G>A (p.Val64=)
|
|
|
NM_000431.4(MVK):c.207A>G (p.Ser69=)
|
|
|
NM_000431.4(MVK):c.226+17G>C
|
|
|
NM_000431.4(MVK):c.226+7G>A
|
rs781670680
|
|
NM_000431.4(MVK):c.226+7G>T
|
|
|
NM_000431.4(MVK):c.226+9A>G
|
|
|
NM_000431.4(MVK):c.227-15T>C
|
|
|
NM_000431.4(MVK):c.227-17G>A
|
|
|
NM_000431.4(MVK):c.227-20C>A
|
|
|
NM_000431.4(MVK):c.24G>A (p.Val8=)
|
|
|
NM_000431.4(MVK):c.252C>A (p.Thr84=)
|
|
|
NM_000431.4(MVK):c.264G>C (p.Val88=)
|
|
|
NM_000431.4(MVK):c.279G>A (p.Glu93=)
|
rs2136224503
|
|
NM_000431.4(MVK):c.27T>C (p.Ser9=)
|
|
|
NM_000431.4(MVK):c.289T>C (p.Leu97=)
|
|
|
NM_000431.4(MVK):c.294T>C (p.Pro98=)
|
rs1566143735
|
|
NM_000431.4(MVK):c.300C>T (p.Asp100=)
|
|
|
NM_000431.4(MVK):c.318C>G (p.Arg106=)
|
|
|
NM_000431.4(MVK):c.319C>T (p.Leu107=)
|
|
|
NM_000431.4(MVK):c.321G>C (p.Leu107=)
|
|
|
NM_000431.4(MVK):c.330G>A (p.Leu110=)
|
|
|
NM_000431.4(MVK):c.336T>C (p.Phe112=)
|
|
|
NM_000431.4(MVK):c.33G>A (p.Pro11=)
|
rs779289416
|
|
NM_000431.4(MVK):c.342C>T (p.Tyr114=)
|
|
|
NM_000431.4(MVK):c.345A>G (p.Leu115=)
|
rs2136224671
|
|
NM_000431.4(MVK):c.366G>A (p.Lys122=)
|
|
|
NM_000431.4(MVK):c.371+19G>C
|
|
|
NM_000431.4(MVK):c.371+20A>T
|
|
|
NM_000431.4(MVK):c.371+20_371+22del
|
|
|
NM_000431.4(MVK):c.371+8C>A
|
rs67886029
|
|
NM_000431.4(MVK):c.372-12G>C
|
|
|
NM_000431.4(MVK):c.372-14C>T
|
|
|
NM_000431.4(MVK):c.372-15C>T
|
|
|
NM_000431.4(MVK):c.372-16C>A
|
|
|
NM_000431.4(MVK):c.372-16C>G
|
|
|
NM_000431.4(MVK):c.372-18C>T
|
|
|
NM_000431.4(MVK):c.378G>A (p.Leu126=)
|
|
|
NM_000431.4(MVK):c.384C>T (p.Ser128=)
|
|
|
NM_000431.4(MVK):c.387G>A (p.Leu129=)
|
|
|
NM_000431.4(MVK):c.393C>T (p.Ile131=)
|
rs762282184
|
|
NM_000431.4(MVK):c.417C>G (p.Pro139=)
|
rs754441368
|
|
NM_000431.4(MVK):c.417C>T (p.Pro139=)
|
|
|
NM_000431.4(MVK):c.420G>A (p.Gly140=)
|
rs2136227153
|
|
NM_000431.4(MVK):c.423G>C (p.Ala141=)
|
|
|
NM_000431.4(MVK):c.426C>A (p.Gly142=)
|
|
|
NM_000431.4(MVK):c.42C>T (p.Val14=)
|
|
|
NM_000431.4(MVK):c.435C>T (p.Ser145=)
|
|
|
NM_000431.4(MVK):c.441C>A (p.Ala147=)
|
rs138342076
|
|
NM_000431.4(MVK):c.450G>A (p.Ser150=)
|
rs201123232
|
|
NM_000431.4(MVK):c.450G>C (p.Ser150=)
|
rs201123232
|
|
NM_000431.4(MVK):c.450G>T (p.Ser150=)
|
|
|
NM_000431.4(MVK):c.453G>T (p.Val151=)
|
|
|
NM_000431.4(MVK):c.457C>T (p.Leu153=)
|
|
|
NM_000431.4(MVK):c.459G>A (p.Leu153=)
|
|
|
NM_000431.4(MVK):c.477T>A (p.Thr159=)
|
|
|
NM_000431.4(MVK):c.486G>A (p.Glu162=)
|
|
|
NM_000431.4(MVK):c.501G>A (p.Pro167=)
|
|
|
NM_000431.4(MVK):c.504G>A (p.Leu168=)
|
rs767075641
|
|
NM_000431.4(MVK):c.507G>A (p.Lys169=)
|
|
|
NM_000431.4(MVK):c.513G>A (p.Gly171=)
|
|
|
NM_000431.4(MVK):c.527+17C>G
|
|
|
NM_000431.4(MVK):c.527+17C>T
|
|
|
NM_000431.4(MVK):c.527+20G>A
|
|
|
NM_000431.4(MVK):c.527+7A>G
|
|
|
NM_000431.4(MVK):c.527+9G>A
|
rs1593017698
|
|
NM_000431.4(MVK):c.528-10G>T
|
|
|
NM_000431.4(MVK):c.528-14A>G
|
|
|
NM_000431.4(MVK):c.528-15C>T
|
rs895927591
|
|
NM_000431.4(MVK):c.528-17A>G
|
rs1885416136
|
|
NM_000431.4(MVK):c.528-18G>A
|
rs1885416038
|
|
NM_000431.4(MVK):c.534C>A (p.Thr178=)
|
|
|
NM_000431.4(MVK):c.534C>G (p.Thr178=)
|
rs749860412
|
|
NM_000431.4(MVK):c.549G>A (p.Glu183=)
|
|
|
NM_000431.4(MVK):c.558C>T (p.Asn186=)
|
|
|
NM_000431.4(MVK):c.573A>G (p.Gln191=)
|
|
|
NM_000431.4(MVK):c.621C>T (p.Val207=)
|
|
|
NM_000431.4(MVK):c.631+16G>A
|
|
|
NM_000431.4(MVK):c.632-11T>C
|
|
|
NM_000431.4(MVK):c.632-12T>G
|
rs1885451097
|
|
NM_000431.4(MVK):c.632-13T>C
|
|
|
NM_000431.4(MVK):c.632-18A>T
|
|
|
NM_000431.4(MVK):c.632-6C>T
|
|
|
NM_000431.4(MVK):c.632-8C>T
|
|
|
NM_000431.4(MVK):c.632-9T>C
|
|
|
NM_000431.4(MVK):c.63C>T (p.Ala21=)
|
|
|
NM_000431.4(MVK):c.651T>C (p.His217=)
|
|
|
NM_000431.4(MVK):c.666A>G (p.Ser222=)
|
|
|
NM_000431.4(MVK):c.669C>T (p.Ser223=)
|
|
|
NM_000431.4(MVK):c.670T>C (p.Leu224=)
|
|
|
NM_000431.4(MVK):c.672A>G (p.Leu224=)
|
|
|
NM_000431.4(MVK):c.677+11G>A
|
|
|
NM_000431.4(MVK):c.677+12G>A
|
rs539146613
|
|
NM_000431.4(MVK):c.677+12G>T
|
rs539146613
|
|
NM_000431.4(MVK):c.677+13T>G
|
|
|
NM_000431.4(MVK):c.677+15G>A
|
|
|
NM_000431.4(MVK):c.677+19A>C
|
|
|
NM_000431.4(MVK):c.677+7del
|
rs2136238231
|
|
NM_000431.4(MVK):c.677+8G>T
|
|
|
NM_000431.4(MVK):c.677+9G>A
|
|
|
NM_000431.4(MVK):c.677+9G>T
|
|
|
NM_000431.4(MVK):c.678-15_678-13del
|
|
|
NM_000431.4(MVK):c.678-16C>G
|
rs368844823
|
|
NM_000431.4(MVK):c.678-16C>T
|
|
|
NM_000431.4(MVK):c.678-4G>A
|
|
|
NM_000431.4(MVK):c.678-8C>A
|
rs1451676951
|
|
NM_000431.4(MVK):c.690C>G (p.Leu230=)
|
|
|
NM_000431.4(MVK):c.699G>A (p.Leu233=)
|
|
|
NM_000431.4(MVK):c.705C>T (p.Thr235=)
|
|
|
NM_000431.4(MVK):c.717C>T (p.Val239=)
|
|
|
NM_000431.4(MVK):c.723C>T (p.Arg241=)
|
|
|
NM_000431.4(MVK):c.738T>A (p.Leu246=)
|
|
|
NM_000431.4(MVK):c.747C>A (p.Gly249=)
|
rs144788669
|
|
NM_000431.4(MVK):c.762G>A (p.Leu254=)
|
|
|
NM_000431.4(MVK):c.768+14C>G
|
|
|
NM_000431.4(MVK):c.768+18C>T
|
|
|
NM_000431.4(MVK):c.769-10T>C
|
|
|
NM_000431.4(MVK):c.769-14_769-12del
|
|
|
NM_000431.4(MVK):c.769-18C>T
|
|
|
NM_000431.4(MVK):c.769-5T>A
|
|
|
NM_000431.4(MVK):c.769-5T>C
|
|
|
NM_000431.4(MVK):c.769-6dup
|
|
|
NM_000431.4(MVK):c.769-7T>C
|
|
|
NM_000431.4(MVK):c.78+10C>A
|
|
|
NM_000431.4(MVK):c.78+10C>T
|
|
|
NM_000431.4(MVK):c.78+11G>T
|
|
|
NM_000431.4(MVK):c.78+18C>T
|
|
|
NM_000431.4(MVK):c.78+19C>G
|
|
|
NM_000431.4(MVK):c.78+20T>C
|
|
|
NM_000431.4(MVK):c.78+20T>G
|
|
|
NM_000431.4(MVK):c.780C>A (p.Ile260=)
|
rs34975996
|
|
NM_000431.4(MVK):c.780C>T (p.Ile260=)
|
rs34975996
|
|
NM_000431.4(MVK):c.783G>A (p.Val261=)
|
|
|
NM_000431.4(MVK):c.789C>A (p.Pro263=)
|
rs146181903
|
|
NM_000431.4(MVK):c.789C>T (p.Pro263=)
|
|
|
NM_000431.4(MVK):c.79-11T>G
|
|
|
NM_000431.4(MVK):c.79-16G>A
|
|
|
NM_000431.4(MVK):c.79-4A>G
|
|
|
NM_000431.4(MVK):c.807T>C (p.Asp269=)
|
|
|
NM_000431.4(MVK):c.84A>G (p.Ala28=)
|
|
|
NM_000431.4(MVK):c.861C>A (p.Ala287=)
|
rs774340599
|
|
NM_000431.4(MVK):c.885+15G>A
|
|
|
NM_000431.4(MVK):c.885+8C>T
|
|
|
NM_000431.4(MVK):c.886-12C>T
|
|
|
NM_000431.4(MVK):c.886-19A>G
|
|
|
NM_000431.4(MVK):c.886-19A>T
|
rs745941736
|
|
NM_000431.4(MVK):c.886-22_886-20del
|
|
|
NM_000431.4(MVK):c.886-7C>T
|
|
|
NM_000431.4(MVK):c.888G>A (p.Glu296=)
|
rs2136253284
|
|
NM_000431.4(MVK):c.924C>A (p.Leu308=)
|
|
|
NM_000431.4(MVK):c.936C>T (p.His312=)
|
rs1212639017
|
|
NM_000431.4(MVK):c.951G>A (p.Gln317=)
|
|
|
NM_000431.4(MVK):c.96C>T (p.Ser32=)
|
|
|
NM_000431.4(MVK):c.9A>G (p.Ser3=)
|
|
|
NM_000435.3(NOTCH3):c.2410+15dup
|
rs747731340
|
|
NM_000516.7(GNAS):c.432C>T (p.Pro144=)
|
rs11554266
|
|
NM_000516.7(GNAS):c.75G>A (p.Lys25=)
|
rs1326256762
|
|
NM_000628.5(IL10RB):c.138C>T (p.Ala46=)
|
|
|
NM_000628.5(IL10RB):c.138_139inv (p.Lys47Glu)
|
|
|
NM_000628.5(IL10RB):c.144G>A (p.Gly48=)
|
|
|
NM_000628.5(IL10RB):c.144G>C (p.Gly48=)
|
rs886965637
|
|
NM_000628.5(IL10RB):c.147C>T (p.Asn49=)
|
rs781729452
|
|
NM_000628.5(IL10RB):c.150G>A (p.Leu50=)
|
|
|
NM_000628.5(IL10RB):c.174-14T>C
|
rs200472684
|
|
NM_000628.5(IL10RB):c.177T>C (p.Tyr59=)
|
rs2096478505
|
|
NM_000628.5(IL10RB):c.21C>T (p.Ser7=)
|
rs923846042
|
|
NM_000628.5(IL10RB):c.27G>A (p.Leu9=)
|
|
|
NM_000628.5(IL10RB):c.312C>T (p.Thr104=)
|
rs2123573940
|
|
NM_000628.5(IL10RB):c.332-11C>G
|
rs531765635
|
|
NM_000628.5(IL10RB):c.332-11C>T
|
rs531765635
|
|
NM_000628.5(IL10RB):c.332-17del
|
|
|
NM_000628.5(IL10RB):c.332-7del
|
|
|
NM_000628.5(IL10RB):c.360A>G (p.Val120=)
|
rs1989246111
|
|
NM_000628.5(IL10RB):c.372T>G (p.Ala124=)
|
|
|
NM_000628.5(IL10RB):c.39G>A (p.Leu13=)
|
rs936692910
|
|
NM_000628.5(IL10RB):c.40C>T (p.Leu14=)
|
|
|
NM_000628.5(IL10RB):c.444G>A (p.Val148=)
|
|
|
NM_000628.5(IL10RB):c.444G>C (p.Val148=)
|
|
|
NM_000628.5(IL10RB):c.450C>T (p.Asn150=)
|
|
|
NM_000628.5(IL10RB):c.49+19G>A
|
|
|
NM_000628.5(IL10RB):c.49+19G>T
|
rs559874353
|
|
NM_000628.5(IL10RB):c.498+19A>G
|
|
|
NM_000628.5(IL10RB):c.50-15G>A
|
|
|
NM_000628.5(IL10RB):c.50-20T>C
|
|
|
NM_000628.5(IL10RB):c.51A>G (p.Ala17=)
|
|
|
NM_000628.5(IL10RB):c.52T>C (p.Leu18=)
|
|
|
NM_000628.5(IL10RB):c.549A>G (p.Pro183=)
|
|
|
NM_000628.5(IL10RB):c.555A>G (p.Thr185=)
|
|
|
NM_000628.5(IL10RB):c.561T>C (p.Tyr187=)
|
|
|
NM_000628.5(IL10RB):c.594G>A (p.Arg198=)
|
|
|
NM_000628.5(IL10RB):c.636A>C (p.Thr212=)
|
|
|
NM_000628.5(IL10RB):c.646+14T>C
|
|
|
NM_000628.5(IL10RB):c.646+19C>T
|
|
|
NM_000628.5(IL10RB):c.647-17C>T
|
|
|
NM_000628.5(IL10RB):c.660C>G (p.Ser220=)
|
|
|
NM_000628.5(IL10RB):c.672C>T (p.Ala224=)
|
|
|
NM_000628.5(IL10RB):c.702C>T (p.Val234=)
|
|
|
NM_000628.5(IL10RB):c.726C>T (p.Phe242=)
|
|
|
NM_000628.5(IL10RB):c.727G>T (p.Ala243Ser)
|
rs1058861
|
|
NM_000628.5(IL10RB):c.72C>T (p.Pro24=)
|
rs759657610
|
|
NM_000628.5(IL10RB):c.741C>T (p.Cys247=)
|
|
|
NM_000628.5(IL10RB):c.759G>A (p.Lys253=)
|
|
|
NM_000628.5(IL10RB):c.796C>T (p.Leu266=)
|
|
|
NM_000628.5(IL10RB):c.804+12G>A
|
|
|
NM_000628.5(IL10RB):c.804+13G>A
|
|
|
NM_000628.5(IL10RB):c.831A>G (p.Thr277=)
|
|
|
NM_000628.5(IL10RB):c.834T>A (p.Leu278=)
|
|
|
NM_000628.5(IL10RB):c.849T>C (p.Phe283=)
|
|
|
NM_000628.5(IL10RB):c.888T>C (p.Ser296=)
|
rs2082965544
|
|
NM_000628.5(IL10RB):c.912C>T (p.Ser304=)
|
|
|
NM_000628.5(IL10RB):c.945C>T (p.Leu315=)
|
|
|
NM_000628.5(IL10RB):c.966G>A (p.Gly322=)
|
rs780187887
|
|
NM_001011658.4(TRAPPC2):c.*1848dup
|
rs200158505
|
|
NM_001032283.3(TMPO):c.105C>T (p.Asp35=)
|
|
|
NM_001032283.3(TMPO):c.108G>C (p.Val36=)
|
|
|
NM_001032283.3(TMPO):c.111C>T (p.Tyr37=)
|
rs1299226116
|
|
NM_001032283.3(TMPO):c.114C>A (p.Val38=)
|
|
|
NM_001032283.3(TMPO):c.150G>A (p.Arg50=)
|
|
|
NM_001032283.3(TMPO):c.186C>T (p.Pro62=)
|
|
|
NM_001032283.3(TMPO):c.231C>T (p.Leu77=)
|
|
|
NM_001032283.3(TMPO):c.234C>G (p.Gly78=)
|
rs753917997
|
|
NM_001032283.3(TMPO):c.234C>T (p.Gly78=)
|
rs753917997
|
|
NM_001032283.3(TMPO):c.267A>T (p.Ala89=)
|
rs1055056946
|
|
NM_001032283.3(TMPO):c.273C>A (p.Val91=)
|
|
|
NM_001032283.3(TMPO):c.279+14dup
|
rs749108666
|
|
NM_001032283.3(TMPO):c.279+16C>T
|
rs1010758415
|
|
NM_001032283.3(TMPO):c.279+17G>A
|
|
|
NM_001032283.3(TMPO):c.280-13A>G
|
|
|
NM_001032283.3(TMPO):c.280-13A>T
|
|
|
NM_001032283.3(TMPO):c.280-18A>G
|
|
|
NM_001032283.3(TMPO):c.280-4A>G
|
|
|
NM_001032283.3(TMPO):c.306C>T (p.Pro102=)
|
|
|
NM_001032283.3(TMPO):c.357T>G (p.Asp119Glu)
|
rs765524061
|
|
NM_001032283.3(TMPO):c.36A>G (p.Thr12=)
|
|
|
NM_001032283.3(TMPO):c.399T>C (p.Pro133=)
|
|
|
NM_001032283.3(TMPO):c.407-4C>T
|
|
|
NM_001032283.3(TMPO):c.423A>G (p.Leu141=)
|
|
|
NM_001032283.3(TMPO):c.429G>A (p.Glu143=)
|
|
|
NM_001032283.3(TMPO):c.441G>A (p.Leu147=)
|
rs2121195450
|
|
NM_001032283.3(TMPO):c.462A>G (p.Thr154=)
|
rs2121195654
|
|
NM_001032283.3(TMPO):c.471A>G (p.Arg157=)
|
|
|
NM_001032283.3(TMPO):c.48G>A (p.Leu16=)
|
rs2121092959
|
|
NM_001032283.3(TMPO):c.519G>A (p.Arg173=)
|
|
|
NM_001032283.3(TMPO):c.528A>G (p.Gly176=)
|
|
|
NM_001032283.3(TMPO):c.565+1007A>G
|
|
|
NM_001032283.3(TMPO):c.565+1106C>A
|
rs757659026
|
|
NM_001032283.3(TMPO):c.565+1127C>G
|
rs777779709
|
|
NM_001032283.3(TMPO):c.565+1127C>T
|
rs777779709
|
|
NM_001032283.3(TMPO):c.565+1154T>C
|
|
|
NM_001032283.3(TMPO):c.565+1199C>T
|
rs2121203040
|
|
NM_001032283.3(TMPO):c.565+1220G>A
|
|
|
NM_001032283.3(TMPO):c.565+1319C>T
|
rs780889526
|
|
NM_001032283.3(TMPO):c.565+1334C>T
|
|
|
NM_001032283.3(TMPO):c.565+1382C>T
|
rs2121204053
|
|
NM_001032283.3(TMPO):c.565+1448G>A
|
rs1877328100
|
|
NM_001032283.3(TMPO):c.565+1532G>T
|
|
|
NM_001032283.3(TMPO):c.565+1613C>T
|
|
|
NM_001032283.3(TMPO):c.565+1637A>G
|
|
|
NM_001032283.3(TMPO):c.565+1688G>T
|
rs577869374
|
|
NM_001032283.3(TMPO):c.565+1781C>T
|
|
|
NM_001032283.3(TMPO):c.565+1808T>C
|
|
|
NM_001032283.3(TMPO):c.565+1814C>G
|
|
|
NM_001032283.3(TMPO):c.565+1817T>C
|
|
|
NM_001032283.3(TMPO):c.565+1826C>T
|
|
|
NM_001032283.3(TMPO):c.565+1880C>A
|
rs1351997207
|
|
NM_001032283.3(TMPO):c.565+1956C>T
|
|
|
NM_001032283.3(TMPO):c.565+1958G>A
|
|
|
NM_001032283.3(TMPO):c.565+1964A>C
|
|
|
NM_001032283.3(TMPO):c.565+19T>C
|
|
|
NM_001032283.3(TMPO):c.565+2099T>C
|
|
|
NM_001032283.3(TMPO):c.565+2135A>G
|
rs1284474609
|
|
NM_001032283.3(TMPO):c.565+2180C>T
|
|
|
NM_001032283.3(TMPO):c.565+2192G>A
|
|
|
NM_001032283.3(TMPO):c.565+2210T>C
|
|
|
NM_001032283.3(TMPO):c.565+2219T>G
|
|
|
NM_001032283.3(TMPO):c.565+2222A>C
|
|
|
NM_001032283.3(TMPO):c.565+2261G>A
|
rs373227285
|
|
NM_001032283.3(TMPO):c.565+2261G>C
|
|
|
NM_001032283.3(TMPO):c.565+2261G>T
|
rs373227285
|
|
NM_001032283.3(TMPO):c.565+2271C>T
|
|
|
NM_001032283.3(TMPO):c.565+2297A>G
|
|
|
NM_001032283.3(TMPO):c.565+2300T>C
|
|
|
NM_001032283.3(TMPO):c.565+2315A>G
|
|
|
NM_001032283.3(TMPO):c.565+2339C>G
|
rs749772850
|
|
NM_001032283.3(TMPO):c.565+2357C>T
|
|
|
NM_001032283.3(TMPO):c.565+2402T>C
|
rs1592947011
|
|
NM_001032283.3(TMPO):c.565+2421C>T
|
rs2121211142
|
|
NM_001032283.3(TMPO):c.565+2426T>C
|
rs1877426910
|
|
NM_001032283.3(TMPO):c.565+9T>G
|
|
|
NM_001032283.3(TMPO):c.63C>A (p.Val21=)
|
|
|
NM_001032283.3(TMPO):c.66C>T (p.Ala22=)
|
rs1875748424
|
|
NM_001042492.3(NF1):c.1186-6C>T
|
rs200684215
|
|
NM_001042492.3(NF1):c.1509T>C (p.Asp503=)
|
rs1597698493
|
|
NM_001042492.3(NF1):c.2001+11_2001+13del
|
rs750468034
|
|
NM_001042492.3(NF1):c.2252-18G>C
|
rs754583248
|
|
NM_001042492.3(NF1):c.2586C>T (p.Thr862=)
|
rs1567848941
|
|
NM_001042492.3(NF1):c.2694G>A (p.Leu898=)
|
rs1060503923
|
|
NM_001042492.3(NF1):c.3375G>A (p.Ala1125=)
|
rs112589561
|
|
NM_001042492.3(NF1):c.3496+14A>G
|
rs2151434934
|
|
NM_001042492.3(NF1):c.3906T>C (p.Asp1302=)
|
rs549058591
|
|
NM_001042492.3(NF1):c.4074C>A (p.Pro1358=)
|
rs757398594
|
|
NM_001042492.3(NF1):c.4110+15A>G
|
rs1331795815
|
|
NM_001042492.3(NF1):c.4500T>C (p.Ser1500=)
|
rs775018971
|
|
NM_001042492.3(NF1):c.4872A>T (p.Ile1624=)
|
rs2151537601
|
|
NM_001042492.3(NF1):c.5813-12A>G
|
rs768741646
|
|
NM_001042492.3(NF1):c.6007-9_6007-7del
|
rs1274172088
|
|
NM_001042492.3(NF1):c.6120T>C (p.Ser2040=)
|
rs2069671357
|
|
NM_001042492.3(NF1):c.624G>A (p.Ala208=)
|
rs370184932
|
|
NM_001042492.3(NF1):c.6428-7C>G
|
rs1597843613
|
|
NM_001042492.3(NF1):c.7062+12_7062+13del
|
rs753202735
|
|
NM_001042492.3(NF1):c.731-16T>C
|
rs1227193781
|
|
NM_001042492.3(NF1):c.7899G>A (p.Glu2633=)
|
rs1597866857
|
|
NM_001042492.3(NF1):c.7971-8dup
|
rs564545012
|
|
NM_001042492.3(NF1):c.8406C>T (p.Ser2802=)
|
rs1597883029
|
|
NM_001065.4(TNFRSF1A):c.1018A>G (p.Lys340Glu)
|
rs778653907
|
|
NM_001065.4(TNFRSF1A):c.102A>G (p.Leu34=)
|
|
|
NM_001065.4(TNFRSF1A):c.1057+14G>A
|
|
|
NM_001065.4(TNFRSF1A):c.1057+16G>A
|
rs1478588008
|
|
NM_001065.4(TNFRSF1A):c.1057+16_1057+18dup
|
|
|
NM_001065.4(TNFRSF1A):c.1057+18C>T
|
rs1948011690
|
|
NM_001065.4(TNFRSF1A):c.1058-13C>T
|
rs1358132747
|
|
NM_001065.4(TNFRSF1A):c.1058-15C>T
|
|
|
NM_001065.4(TNFRSF1A):c.1058-17G>A
|
|
|
NM_001065.4(TNFRSF1A):c.1058-4G>C
|
rs369451569
|
|
NM_001065.4(TNFRSF1A):c.1058-5C>G
|
rs1948006524
|
|
NM_001065.4(TNFRSF1A):c.1058-5C>T
|
rs1948006524
|
|
NM_001065.4(TNFRSF1A):c.1058-8C>T
|
|
|
NM_001065.4(TNFRSF1A):c.1058-9T>C
|
rs899753301
|
|
NM_001065.4(TNFRSF1A):c.1083C>T (p.Ala361=)
|
rs746923911
|
|
NM_001065.4(TNFRSF1A):c.1126C>A (p.Arg376=)
|
|
|
NM_001065.4(TNFRSF1A):c.1140G>A (p.Leu380=)
|
|
|
NM_001065.4(TNFRSF1A):c.1170G>T (p.Leu390=)
|
|
|
NM_001065.4(TNFRSF1A):c.1191C>G (p.Arg397=)
|
|
|
NM_001065.4(TNFRSF1A):c.1197G>A (p.Ala399=)
|
|
|
NM_001065.4(TNFRSF1A):c.1233G>C (p.Thr411=)
|
|
|
NM_001065.4(TNFRSF1A):c.123T>C (p.Asp41=)
|
rs104895271
|
|
NM_001065.4(TNFRSF1A):c.1251G>T (p.Thr417=)
|
rs200473080
|
|
NM_001065.4(TNFRSF1A):c.1254G>A (p.Leu418=)
|
|
|
NM_001065.4(TNFRSF1A):c.1287C>T (p.Asp429=)
|
rs1592043048
|
|
NM_001065.4(TNFRSF1A):c.1320G>A (p.Ala440=)
|
rs980022194
|
|
NM_001065.4(TNFRSF1A):c.1341C>T (p.Leu447=)
|
rs2136811931
|
|
NM_001065.4(TNFRSF1A):c.1344G>A (p.Pro448=)
|
rs201538598
|
|
NM_001065.4(TNFRSF1A):c.1344G>T (p.Pro448=)
|
rs201538598
|
|
NM_001065.4(TNFRSF1A):c.1359T>G (p.Leu453=)
|
|
|
NM_001065.4(TNFRSF1A):c.1367G>A (p.Ter456=)
|
|
|
NM_001065.4(TNFRSF1A):c.150C>T (p.Ile50=)
|
|
|
NM_001065.4(TNFRSF1A):c.193+20G>A
|
|
|
NM_001065.4(TNFRSF1A):c.193+7G>A
|
|
|
NM_001065.4(TNFRSF1A):c.193+9A>C
|
rs2136823017
|
|
NM_001065.4(TNFRSF1A):c.194-8A>G
|
|
|
NM_001065.4(TNFRSF1A):c.213C>T (p.Asp71=)
|
|
|
NM_001065.4(TNFRSF1A):c.237G>A (p.Thr79=)
|
|
|
NM_001065.4(TNFRSF1A):c.237G>C (p.Thr79=)
|
|
|
NM_001065.4(TNFRSF1A):c.24C>T (p.Asp8=)
|
|
|
NM_001065.4(TNFRSF1A):c.318A>G (p.Arg106=)
|
rs1948082518
|
|
NM_001065.4(TNFRSF1A):c.322+15G>T
|
|
|
NM_001065.4(TNFRSF1A):c.322+19G>A
|
|
|
NM_001065.4(TNFRSF1A):c.323-17T>C
|
rs2136822053
|
|
NM_001065.4(TNFRSF1A):c.323-18A>G
|
|
|
NM_001065.4(TNFRSF1A):c.369C>G (p.Thr123=)
|
|
|
NM_001065.4(TNFRSF1A):c.397C>A (p.Arg133=)
|
|
|
NM_001065.4(TNFRSF1A):c.40-13G>T
|
|
|
NM_001065.4(TNFRSF1A):c.40-19C>A
|
rs200226574
|
|
NM_001065.4(TNFRSF1A):c.40-19C>T
|
|
|
NM_001065.4(TNFRSF1A):c.40-6C>T
|
|
|
NM_001065.4(TNFRSF1A):c.40-9C>A
|
rs371080583
|
|
NM_001065.4(TNFRSF1A):c.462G>A (p.Val154=)
|
rs768460687
|
|
NM_001065.4(TNFRSF1A):c.472+7G>A
|
|
|
NM_001065.4(TNFRSF1A):c.472+7G>T
|
rs200194581
|
|
NM_001065.4(TNFRSF1A):c.473-4A>G
|
rs2136821321
|
|
NM_001065.4(TNFRSF1A):c.473-5T>A
|
|
|
NM_001065.4(TNFRSF1A):c.473-7C>T
|
|
|
NM_001065.4(TNFRSF1A):c.546T>C (p.Cys182=)
|
|
|
NM_001065.4(TNFRSF1A):c.54G>C (p.Leu18=)
|
rs1454940336
|
|
NM_001065.4(TNFRSF1A):c.552-16C>T
|
|
|
NM_001065.4(TNFRSF1A):c.576G>C (p.Thr192=)
|
|
|
NM_001065.4(TNFRSF1A):c.57G>A (p.Leu19=)
|
rs1948090257
|
|
NM_001065.4(TNFRSF1A):c.580T>C (p.Leu194=)
|
rs2136817802
|
|
NM_001065.4(TNFRSF1A):c.60G>A (p.Val20=)
|
rs778929455
|
|
NM_001065.4(TNFRSF1A):c.625+10del
|
|
|
NM_001065.4(TNFRSF1A):c.625+18G>A
|
|
|
NM_001065.4(TNFRSF1A):c.626-13G>A
|
|
|
NM_001065.4(TNFRSF1A):c.626-18C>T
|
|
|
NM_001065.4(TNFRSF1A):c.627C>T (p.Gly209=)
|
|
|
NM_001065.4(TNFRSF1A):c.630C>A (p.Thr210=)
|
rs1948038905
|
|
NM_001065.4(TNFRSF1A):c.639G>A (p.Leu213=)
|
|
|
NM_001065.4(TNFRSF1A):c.646C>T (p.Leu216=)
|
rs2136817386
|
|
NM_001065.4(TNFRSF1A):c.660T>C (p.Phe220=)
|
|
|
NM_001065.4(TNFRSF1A):c.684C>T (p.Leu228=)
|
|
|
NM_001065.4(TNFRSF1A):c.713G>A (p.Arg238Gln)
|
|
|
NM_001065.4(TNFRSF1A):c.714G>A (p.Arg238=)
|
rs200376188
|
|
NM_001065.4(TNFRSF1A):c.732C>T (p.Tyr244=)
|
|
|
NM_001065.4(TNFRSF1A):c.739+10G>A
|
|
|
NM_001065.4(TNFRSF1A):c.740-17T>C
|
|
|
NM_001065.4(TNFRSF1A):c.740-17T>G
|
|
|
NM_001065.4(TNFRSF1A):c.740-19T>C
|
|
|
NM_001065.4(TNFRSF1A):c.740-20C>G
|
|
|
NM_001065.4(TNFRSF1A):c.740-6C>A
|
|
|
NM_001065.4(TNFRSF1A):c.740-9T>A
|
|
|
NM_001065.4(TNFRSF1A):c.763A>G (p.Lys255Glu)
|
|
|
NM_001065.4(TNFRSF1A):c.769-11C>G
|
|
|
NM_001065.4(TNFRSF1A):c.769-11C>T
|
rs765062522
|
|
NM_001065.4(TNFRSF1A):c.769-12T>A
|
rs1948022499
|
|
NM_001065.4(TNFRSF1A):c.769-19G>A
|
|
|
NM_001065.4(TNFRSF1A):c.769-19G>T
|
|
|
NM_001065.4(TNFRSF1A):c.769-9C>G
|
|
|
NM_001065.4(TNFRSF1A):c.771G>A (p.Gly257=)
|
rs2136815511
|
|
NM_001065.4(TNFRSF1A):c.783A>T (p.Gly261=)
|
rs747167733
|
|
NM_001065.4(TNFRSF1A):c.78G>A (p.Gly26=)
|
|
|
NM_001065.4(TNFRSF1A):c.828T>C (p.Thr276=)
|
|
|
NM_001065.4(TNFRSF1A):c.834C>T (p.Gly278=)
|
|
|
NM_001065.4(TNFRSF1A):c.843C>A (p.Pro281=)
|
|
|
NM_001065.4(TNFRSF1A):c.847C>T (p.Leu283=)
|
|
|
NM_001065.4(TNFRSF1A):c.861C>G (p.Pro287=)
|
|
|
NM_001065.4(TNFRSF1A):c.903C>G (p.Pro301=)
|
rs1338450773
|
|
NM_001065.4(TNFRSF1A):c.924G>A (p.Ala308=)
|
rs2136814745
|
|
NM_001065.4(TNFRSF1A):c.927T>G (p.Ala309=)
|
|
|
NM_001065.4(TNFRSF1A):c.943G>A (p.Ala315Thr)
|
|
|
NM_001065.4(TNFRSF1A):c.960G>A (p.Gly320=)
|
rs868081847
|
|
NM_001065.4(TNFRSF1A):c.993C>G (p.Ser331=)
|
rs1352725854
|
|
NM_001065.4(TNFRSF1A):c.9C>T (p.Leu3=)
|
|
|
NM_001083116.3(PRF1):c.519G>A (p.Thr173=)
|
rs112883709
|
|
NM_001110556.2(FLNA):c.129G>A (p.Lys43=)
|
rs1569551929
|
|
NM_001110556.2(FLNA):c.3207+13T>C
|
rs1557177989
|
|
NM_001110556.2(FLNA):c.3991G>A (p.Val1331Met)
|
rs1569551635
|
|
NM_001110556.2(FLNA):c.4737G>C (p.Leu1579=)
|
rs201904661
|
|
NM_001110556.2(FLNA):c.5275C>T (p.Pro1759Ser)
|
rs1382076574
|
|
NM_001110556.2(FLNA):c.62_64dup (p.Val21dup)
|
rs782721874
|
|
NM_001111.5(ADAR):c.*503_*505del
|
rs145794645
|
|
NM_001111.5(ADAR):c.1000C>T (p.Leu334=)
|
|
|
NM_001111.5(ADAR):c.1002A>G (p.Leu334=)
|
|
|
NM_001111.5(ADAR):c.1047C>G (p.Thr349=)
|
|
|
NM_001111.5(ADAR):c.1071C>T (p.Asp357=)
|
|
|
NM_001111.5(ADAR):c.1113T>C (p.Ser371=)
|
rs780284489
|
|
NM_001111.5(ADAR):c.1122A>G (p.Glu374=)
|
rs2101639912
|
|
NM_001111.5(ADAR):c.1140C>A (p.Ile380=)
|
|
|
NM_001111.5(ADAR):c.114T>C (p.Ser38=)
|
|
|
NM_001111.5(ADAR):c.1155A>G (p.Arg385=)
|
rs996186256
|
|
NM_001111.5(ADAR):c.1161A>C (p.Ala387=)
|
|
|
NM_001111.5(ADAR):c.1170C>T (p.Leu390=)
|
|
|
NM_001111.5(ADAR):c.1173C>T (p.Thr391=)
|
rs1697866090
|
|
NM_001111.5(ADAR):c.1188A>G (p.Thr396=)
|
rs2101639424
|
|
NM_001111.5(ADAR):c.118C>T (p.Leu40=)
|
rs2101645710
|
|
NM_001111.5(ADAR):c.1230G>A (p.Glu410=)
|
|
|
NM_001111.5(ADAR):c.1236G>T (p.Gly412=)
|
|
|
NM_001111.5(ADAR):c.123T>G (p.Leu41=)
|
|
|
NM_001111.5(ADAR):c.1242A>G (p.Glu414=)
|
|
|
NM_001111.5(ADAR):c.1263C>T (p.Asn421=)
|
rs2101639149
|
|
NM_001111.5(ADAR):c.1281A>G (p.Pro427=)
|
rs147766807
|
|
NM_001111.5(ADAR):c.1294C>T (p.Leu432=)
|
|
|
NM_001111.5(ADAR):c.12G>T (p.Arg4=)
|
|
|
NM_001111.5(ADAR):c.1323C>T (p.Pro441=)
|
rs2101638838
|
|
NM_001111.5(ADAR):c.1359G>A (p.Gln453=)
|
|
|
NM_001111.5(ADAR):c.1377C>T (p.Ile459=)
|
|
|
NM_001111.5(ADAR):c.1410A>G (p.Pro470=)
|
|
|
NM_001111.5(ADAR):c.1422A>T (p.Arg474=)
|
rs1571106622
|
|
NM_001111.5(ADAR):c.1449C>T (p.Tyr483=)
|
|
|
NM_001111.5(ADAR):c.1476C>T (p.Pro492=)
|
|
|
NM_001111.5(ADAR):c.147G>A (p.Gly49=)
|
|
|
NM_001111.5(ADAR):c.1485A>G (p.Lys495=)
|
|
|
NM_001111.5(ADAR):c.1497C>T (p.Cys499=)
|
|
|
NM_001111.5(ADAR):c.15+10G>A
|
rs58655370
|
|
NM_001111.5(ADAR):c.15+13G>C
|
rs1206051413
|
|
NM_001111.5(ADAR):c.15+15C>A
|
|
|
NM_001111.5(ADAR):c.15+15C>T
|
|
|
NM_001111.5(ADAR):c.15+7C>T
|
|
|
NM_001111.5(ADAR):c.15+8G>A
|
|
|
NM_001111.5(ADAR):c.1503G>A (p.Leu501=)
|
rs1697845438
|
|
NM_001111.5(ADAR):c.1518C>T (p.Ser506=)
|
|
|
NM_001111.5(ADAR):c.1524G>A (p.Leu508=)
|
|
|
NM_001111.5(ADAR):c.1524G>T (p.Leu508=)
|
rs765013076
|
|
NM_001111.5(ADAR):c.1566C>T (p.Asn522=)
|
rs763259702
|
|
NM_001111.5(ADAR):c.1593T>C (p.His531=)
|
rs1464950742
|
|
NM_001111.5(ADAR):c.16-14G>A
|
|
|
NM_001111.5(ADAR):c.16-17A>G
|
|
|
NM_001111.5(ADAR):c.16-23_16-20del
|
rs2101646423
|
|
NM_001111.5(ADAR):c.1601+17G>A
|
|
|
NM_001111.5(ADAR):c.1601+17dup
|
rs1380359166
|
|
NM_001111.5(ADAR):c.1601+19A>G
|
rs1697836508
|
|
NM_001111.5(ADAR):c.1602-13A>G
|
|
|
NM_001111.5(ADAR):c.1602-14C>G
|
rs752746420
|
|
NM_001111.5(ADAR):c.1602-17A>G
|
rs756044090
|
|
NM_001111.5(ADAR):c.1602-19C>G
|
|
|
NM_001111.5(ADAR):c.1602-19_1602-18del
|
|
|
NM_001111.5(ADAR):c.1602-9T>C
|
|
|
NM_001111.5(ADAR):c.1623C>A (p.Ile541=)
|
|
|
NM_001111.5(ADAR):c.1630C>A (p.Arg544=)
|
rs768943773
|
|
NM_001111.5(ADAR):c.165G>C (p.Pro55=)
|
|
|
NM_001111.5(ADAR):c.165G>T (p.Pro55=)
|
rs570176840
|
|
NM_001111.5(ADAR):c.1701A>G (p.Thr567=)
|
rs2101626512
|
|
NM_001111.5(ADAR):c.1704T>A (p.Ile568=)
|
|
|
NM_001111.5(ADAR):c.1716A>G (p.Glu572=)
|
|
|
NM_001111.5(ADAR):c.1749A>G (p.Glu583=)
|
|
|
NM_001111.5(ADAR):c.1767A>G (p.Thr589=)
|
|
|
NM_001111.5(ADAR):c.1785+12C>T
|
rs930199564
|
|
NM_001111.5(ADAR):c.1785+12_1785+14del
|
|
|
NM_001111.5(ADAR):c.1785+15G>A
|
|
|
NM_001111.5(ADAR):c.1785+17C>T
|
|
|
NM_001111.5(ADAR):c.1785+18A>T
|
rs769562435
|
|
NM_001111.5(ADAR):c.1785+20C>T
|
rs1697642580
|
|
NM_001111.5(ADAR):c.1785+9C>T
|
|
|
NM_001111.5(ADAR):c.1786-14C>T
|
rs776535530
|
|
NM_001111.5(ADAR):c.1786-17TC[2]
|
rs2101624408
|
|
NM_001111.5(ADAR):c.1786-18G>A
|
rs1450079271
|
|
NM_001111.5(ADAR):c.1786-3dup
|
|
|
NM_001111.5(ADAR):c.180G>A (p.Gln60=)
|
|
|
NM_001111.5(ADAR):c.1815A>G (p.Ser605=)
|
|
|
NM_001111.5(ADAR):c.1848C>T (p.Val616=)
|
|
|
NM_001111.5(ADAR):c.186G>C (p.Pro62=)
|
|
|
NM_001111.5(ADAR):c.1872C>T (p.His624=)
|
|
|
NM_001111.5(ADAR):c.1881G>A (p.Gly627=)
|
|
|
NM_001111.5(ADAR):c.1893A>G (p.Glu631=)
|
rs2101623732
|
|
NM_001111.5(ADAR):c.1902C>T (p.Leu634=)
|
|
|
NM_001111.5(ADAR):c.1934+10A>G
|
|
|
NM_001111.5(ADAR):c.1934+11C>T
|
|
|
NM_001111.5(ADAR):c.1934+15T>A
|
|
|
NM_001111.5(ADAR):c.1934+7C>T
|
|
|
NM_001111.5(ADAR):c.1934+9T>C
|
|
|
NM_001111.5(ADAR):c.1935-12A>G
|
|
|
NM_001111.5(ADAR):c.1935-5G>A
|
rs2101621336
|
|
NM_001111.5(ADAR):c.1935-5G>C
|
|
|
NM_001111.5(ADAR):c.1965A>G (p.Gln655=)
|
|
|
NM_001111.5(ADAR):c.1974C>T (p.Pro658=)
|
|
|
NM_001111.5(ADAR):c.1977T>C (p.Ser659=)
|
rs1023918495
|
|
NM_001111.5(ADAR):c.1989C>G (p.Pro663=)
|
rs1375965216
|
|
NM_001111.5(ADAR):c.198T>C (p.Pro66=)
|
|
|
NM_001111.5(ADAR):c.204C>T (p.Leu68=)
|
|
|
NM_001111.5(ADAR):c.2076C>T (p.Asn692=)
|
|
|
NM_001111.5(ADAR):c.2079+12T>G
|
|
|
NM_001111.5(ADAR):c.2079+18T>C
|
|
|
NM_001111.5(ADAR):c.2079+19C>G
|
|
|
NM_001111.5(ADAR):c.2079+7C>T
|
|
|
NM_001111.5(ADAR):c.2080-15T>C
|
|
|
NM_001111.5(ADAR):c.2080-9C>A
|
|
|
NM_001111.5(ADAR):c.2107G>C (p.Asp703His)
|
|
|
NM_001111.5(ADAR):c.2112C>T (p.Asn704=)
|
|
|
NM_001111.5(ADAR):c.213C>A (p.Leu71=)
|
|
|
NM_001111.5(ADAR):c.213C>G (p.Leu71=)
|
rs765015055
|
|
NM_001111.5(ADAR):c.2157C>G (p.Leu719=)
|
|
|
NM_001111.5(ADAR):c.2161A>C (p.Arg721=)
|
|
|
NM_001111.5(ADAR):c.2172C>T (p.Asn724=)
|
|
|
NM_001111.5(ADAR):c.2194T>C (p.Leu732=)
|
|
|
NM_001111.5(ADAR):c.2205C>T (p.Ala735=)
|
rs1697533791
|
|
NM_001111.5(ADAR):c.2208C>G (p.Arg736=)
|
|
|
NM_001111.5(ADAR):c.2208C>T (p.Arg736=)
|
rs1178329666
|
|
NM_001111.5(ADAR):c.2217C>T (p.Gly739=)
|
|
|
NM_001111.5(ADAR):c.2262C>T (p.His754=)
|
|
|
NM_001111.5(ADAR):c.2265G>A (p.Glu755=)
|
|
|
NM_001111.5(ADAR):c.2268C>G (p.Pro756=)
|
|
|
NM_001111.5(ADAR):c.2270+16C>T
|
rs1188648002
|
|
NM_001111.5(ADAR):c.2270+19G>A
|
rs2101618972
|
|
NM_001111.5(ADAR):c.2270+7G>A
|
|
|
NM_001111.5(ADAR):c.2271-18_2271-17del
|
rs1291931048
|
|
NM_001111.5(ADAR):c.2271-5C>T
|
rs2101589248
|
|
NM_001111.5(ADAR):c.2328C>T (p.Ser776=)
|
|
|
NM_001111.5(ADAR):c.234A>G (p.Leu78=)
|
rs1697944096
|
|
NM_001111.5(ADAR):c.2361G>C (p.Ala787=)
|
rs759585998
|
|
NM_001111.5(ADAR):c.2361G>T (p.Ala787=)
|
rs759585998
|
|
NM_001111.5(ADAR):c.2370T>C (p.Arg790=)
|
rs1200861188
|
|
NM_001111.5(ADAR):c.2403C>G (p.Arg801=)
|
rs1340527860
|
|
NM_001111.5(ADAR):c.240C>T (p.Ala80=)
|
|
|
NM_001111.5(ADAR):c.2433A>C (p.Thr811=)
|
|
|
NM_001111.5(ADAR):c.2436G>A (p.Gly812=)
|
rs2101588401
|
|
NM_001111.5(ADAR):c.2460C>T (p.Leu820=)
|
rs776037751
|
|
NM_001111.5(ADAR):c.2463C>T (p.Leu821=)
|
rs1420094696
|
|
NM_001111.5(ADAR):c.2496+17T>C
|
|
|
NM_001111.5(ADAR):c.2496+20G>A
|
rs2101587979
|
|
NM_001111.5(ADAR):c.2497-10T>G
|
rs2101586133
|
|
NM_001111.5(ADAR):c.2497-12T>G
|
|
|
NM_001111.5(ADAR):c.2497-14T>C
|
|
|
NM_001111.5(ADAR):c.2497-19C>A
|
|
|
NM_001111.5(ADAR):c.2505C>A (p.Leu835=)
|
rs149012931
|
|
NM_001111.5(ADAR):c.2514C>T (p.Ser838=)
|
rs1015474864
|
|
NM_001111.5(ADAR):c.2565G>A (p.Leu855=)
|
|
|
NM_001111.5(ADAR):c.2565G>T (p.Leu855=)
|
rs2101585659
|
|
NM_001111.5(ADAR):c.2592C>G (p.Leu864=)
|
rs138707431
|
|
NM_001111.5(ADAR):c.2607G>T (p.Leu869=)
|
|
|
NM_001111.5(ADAR):c.2610C>A (p.Ala870=)
|
|
|
NM_001111.5(ADAR):c.2625A>G (p.Lys875=)
|
rs2101585294
|
|
NM_001111.5(ADAR):c.2646T>A (p.Gly882=)
|
|
|
NM_001111.5(ADAR):c.2652C>T (p.Val884=)
|
|
|
NM_001111.5(ADAR):c.2661G>A (p.Leu887=)
|
|
|
NM_001111.5(ADAR):c.2668+10G>A
|
rs2101584941
|
|
NM_001111.5(ADAR):c.2668+13C>T
|
|
|
NM_001111.5(ADAR):c.2668+15G>A
|
|
|
NM_001111.5(ADAR):c.2668+18A>G
|
|
|
NM_001111.5(ADAR):c.2668+19C>T
|
rs2101584874
|
|
NM_001111.5(ADAR):c.2668+20A>G
|
|
|
NM_001111.5(ADAR):c.2669-11C>T
|
|
|
NM_001111.5(ADAR):c.2669-19G>A
|
|
|
NM_001111.5(ADAR):c.2669-5C>T
|
|
|
NM_001111.5(ADAR):c.2669-8C>T
|
rs755765435
|
|
NM_001111.5(ADAR):c.2670G>A (p.Gly890=)
|
|
|
NM_001111.5(ADAR):c.2676C>T (p.Arg892=)
|
|
|
NM_001111.5(ADAR):c.2721T>C (p.Asn907=)
|
|
|
NM_001111.5(ADAR):c.2730T>C (p.His910=)
|
|
|
NM_001111.5(ADAR):c.2751A>G (p.Arg917=)
|
|
|
NM_001111.5(ADAR):c.2763-14C>T
|
|
|
NM_001111.5(ADAR):c.2763-27_2763-14del
|
|
|
NM_001111.5(ADAR):c.2763-4del
|
|
|
NM_001111.5(ADAR):c.2763-7T>C
|
rs1696928206
|
|
NM_001111.5(ADAR):c.2796C>T (p.Ser932=)
|
rs2101578963
|
|
NM_001111.5(ADAR):c.2808G>A (p.Lys936=)
|
|
|
NM_001111.5(ADAR):c.2814T>C (p.Ser938=)
|
rs1557868655
|
|
NM_001111.5(ADAR):c.2829T>C (p.Ala943=)
|
|
|
NM_001111.5(ADAR):c.2832G>A (p.Lys944=)
|
|
|
NM_001111.5(ADAR):c.2862T>A (p.Thr954=)
|
rs1386367431
|
|
NM_001111.5(ADAR):c.2868A>G (p.Ser956=)
|
|
|
NM_001111.5(ADAR):c.2877G>A (p.Leu959=)
|
rs2101578452
|
|
NM_001111.5(ADAR):c.2885+13C>T
|
|
|
NM_001111.5(ADAR):c.2885+17_2885+18dup
|
rs762694073
|
|
NM_001111.5(ADAR):c.2886-14C>T
|
|
|
NM_001111.5(ADAR):c.2886-16C>T
|
|
|
NM_001111.5(ADAR):c.2886-19A>C
|
|
|
NM_001111.5(ADAR):c.2886-4dup
|
|
|
NM_001111.5(ADAR):c.2886-6T>C
|
|
|
NM_001111.5(ADAR):c.2886-9G>A
|
rs2101576846
|
|
NM_001111.5(ADAR):c.2895G>T (p.Pro965=)
|
|
|
NM_001111.5(ADAR):c.2919C>T (p.Asp973=)
|
rs1187683099
|
|
NM_001111.5(ADAR):c.2922G>A (p.Lys974=)
|
|
|
NM_001111.5(ADAR):c.2928C>T (p.Cys976=)
|
|
|
NM_001111.5(ADAR):c.2931C>T (p.Ser977=)
|
|
|
NM_001111.5(ADAR):c.2934C>T (p.Asp978=)
|
|
|
NM_001111.5(ADAR):c.2967C>T (p.Tyr989=)
|
|
|
NM_001111.5(ADAR):c.2973C>T (p.Val991=)
|
rs1163312977
|
|
NM_001111.5(ADAR):c.297_298inv (p.Arg100Gly)
|
|
|
NM_001111.5(ADAR):c.3003C>T (p.Arg1001=)
|
|
|
NM_001111.5(ADAR):c.3019+19C>A
|
|
|
NM_001111.5(ADAR):c.3020-11C>G
|
|
|
NM_001111.5(ADAR):c.3020-18C>T
|
rs2101567155
|
|
NM_001111.5(ADAR):c.3020-7C>T
|
rs2101567094
|
|
NM_001111.5(ADAR):c.303T>C (p.Ser101=)
|
|
|
NM_001111.5(ADAR):c.3042A>G (p.Glu1014=)
|
rs754169463
|
|
NM_001111.5(ADAR):c.3051C>T (p.Asp1017=)
|
|
|
NM_001111.5(ADAR):c.306G>A (p.Gln102=)
|
rs760509994
|
|
NM_001111.5(ADAR):c.3075T>C (p.Ile1025=)
|
|
|
NM_001111.5(ADAR):c.3081C>G (p.Leu1027=)
|
|
|
NM_001111.5(ADAR):c.3081C>T (p.Leu1027=)
|
rs145851568
|
|
NM_001111.5(ADAR):c.309G>A (p.Gly103=)
|
rs141224623
|
|
NM_001111.5(ADAR):c.309G>T (p.Gly103=)
|
rs141224623
|
|
NM_001111.5(ADAR):c.3105C>A (p.Ser1035=)
|
rs769697484
|
|
NM_001111.5(ADAR):c.3105C>G (p.Ser1035=)
|
rs769697484
|
|
NM_001111.5(ADAR):c.3108T>C (p.Cys1036=)
|
rs776645530
|
|
NM_001111.5(ADAR):c.3120C>A (p.Ile1040=)
|
rs771995348
|
|
NM_001111.5(ADAR):c.3126C>T (p.Arg1042=)
|
|
|
NM_001111.5(ADAR):c.3141C>T (p.Gly1047=)
|
rs749566934
|
|
NM_001111.5(ADAR):c.3183T>C (p.Tyr1061=)
|
rs2101565921
|
|
NM_001111.5(ADAR):c.3186C>G (p.Leu1062=)
|
|
|
NM_001111.5(ADAR):c.3198A>T (p.Thr1066=)
|
rs375297353
|
|
NM_001111.5(ADAR):c.3202+10C>T
|
|
|
NM_001111.5(ADAR):c.3202+12G>C
|
rs2101565655
|
|
NM_001111.5(ADAR):c.3203-17C>T
|
|
|
NM_001111.5(ADAR):c.3222G>T (p.Gly1074=)
|
rs763039246
|
|
NM_001111.5(ADAR):c.3226C>T (p.Leu1076=)
|
rs2101563671
|
|
NM_001111.5(ADAR):c.324C>T (p.Phe108=)
|
|
|
NM_001111.5(ADAR):c.3267T>C (p.Ser1089=)
|
|
|
NM_001111.5(ADAR):c.3270A>G (p.Ala1090=)
|
|
|
NM_001111.5(ADAR):c.3303C>T (p.Val1101=)
|
|
|
NM_001111.5(ADAR):c.3306C>T (p.Asn1102=)
|
rs1460932071
|
|
NM_001111.5(ADAR):c.3309C>T (p.His1103=)
|
|
|
NM_001111.5(ADAR):c.3315+12C>G
|
|
|
NM_001111.5(ADAR):c.3315+16T>A
|
|
|
NM_001111.5(ADAR):c.3316-10G>T
|
rs1571047318
|
|
NM_001111.5(ADAR):c.3316-15T>G
|
rs897704364
|
|
NM_001111.5(ADAR):c.3316-16C>A
|
|
|
NM_001111.5(ADAR):c.3316-16C>T
|
|
|
NM_001111.5(ADAR):c.3316-20G>T
|
|
|
NM_001111.5(ADAR):c.3316-20del
|
|
|
NM_001111.5(ADAR):c.3316-4C>A
|
rs765304172
|
|
NM_001111.5(ADAR):c.3316-4dup
|
|
|
NM_001111.5(ADAR):c.3348G>A (p.Arg1116=)
|
|
|
NM_001111.5(ADAR):c.3354C>A (p.Ser1118=)
|
rs764381126
|
|
NM_001111.5(ADAR):c.3354C>G (p.Ser1118=)
|
|
|
NM_001111.5(ADAR):c.3393T>C (p.Ala1131=)
|
|
|
NM_001111.5(ADAR):c.3417G>T (p.Leu1139=)
|
|
|
NM_001111.5(ADAR):c.3420C>T (p.Asp1140=)
|
rs1696672165
|
|
NM_001111.5(ADAR):c.3432C>A (p.Gly1144=)
|
|
|
NM_001111.5(ADAR):c.3432C>G (p.Gly1144=)
|
rs568610646
|
|
NM_001111.5(ADAR):c.3443+18C>T
|
|
|
NM_001111.5(ADAR):c.3443+19G>T
|
rs200649075
|
|
NM_001111.5(ADAR):c.3444-10G>T
|
|
|
NM_001111.5(ADAR):c.3444-13T>G
|
|
|
NM_001111.5(ADAR):c.3444-16G>A
|
|
|
NM_001111.5(ADAR):c.3480C>T (p.Asn1160=)
|
rs2101557893
|
|
NM_001111.5(ADAR):c.3486T>C (p.Phe1162=)
|
|
|
NM_001111.5(ADAR):c.348G>A (p.Arg116=)
|
|
|
NM_001111.5(ADAR):c.3501G>A (p.Lys1167=)
|
|
|
NM_001111.5(ADAR):c.3504C>T (p.Leu1168=)
|
rs566390171
|
|
NM_001111.5(ADAR):c.3507C>T (p.Cys1169=)
|
rs1410478087
|
|
NM_001111.5(ADAR):c.3529C>T (p.Leu1177=)
|
|
|
NM_001111.5(ADAR):c.3540C>T (p.Leu1180=)
|
rs368425519
|
|
NM_001111.5(ADAR):c.354G>T (p.Leu118=)
|
|
|
NM_001111.5(ADAR):c.3564T>C (p.Ala1188=)
|
|
|
NM_001111.5(ADAR):c.3627G>C (p.Gly1209=)
|
|
|
NM_001111.5(ADAR):c.3636T>C (p.Ile1212=)
|
|
|
NM_001111.5(ADAR):c.3651G>A (p.Glu1217=)
|
rs1177879091
|
|
NM_001111.5(ADAR):c.3663T>C (p.Phe1221=)
|
|
|
NM_001111.5(ADAR):c.375C>T (p.Cys125=)
|
|
|
NM_001111.5(ADAR):c.396A>G (p.Glu132=)
|
rs1697933570
|
|
NM_001111.5(ADAR):c.397C>T (p.Leu133=)
|
rs1457956246
|
|
NM_001111.5(ADAR):c.438C>T (p.Phe146=)
|
rs267598057
|
|
NM_001111.5(ADAR):c.483G>A (p.Leu161=)
|
|
|
NM_001111.5(ADAR):c.492A>G (p.Lys164=)
|
|
|
NM_001111.5(ADAR):c.501T>G (p.Thr167=)
|
|
|
NM_001111.5(ADAR):c.528A>G (p.Leu176=)
|
|
|
NM_001111.5(ADAR):c.534C>G (p.Ser178=)
|
|
|
NM_001111.5(ADAR):c.552G>A (p.Lys184=)
|
|
|
NM_001111.5(ADAR):c.597C>G (p.Val199=)
|
|
|
NM_001111.5(ADAR):c.633A>G (p.Val211=)
|
|
|
NM_001111.5(ADAR):c.645T>C (p.Gly215=)
|
|
|
NM_001111.5(ADAR):c.648T>C (p.His216=)
|
|
|
NM_001111.5(ADAR):c.672C>T (p.Asp224=)
|
|
|
NM_001111.5(ADAR):c.687G>T (p.Pro229=)
|
rs762320645
|
|
NM_001111.5(ADAR):c.690A>G (p.Glu230=)
|
rs1386707218
|
|
NM_001111.5(ADAR):c.696A>G (p.Arg232=)
|
|
|
NM_001111.5(ADAR):c.69A>G (p.Arg23=)
|
rs2101646039
|
|
NM_001111.5(ADAR):c.705A>G (p.Thr235=)
|
|
|
NM_001111.5(ADAR):c.714A>C (p.Ser238=)
|
rs747829977
|
|
NM_001111.5(ADAR):c.741A>C (p.Ala247=)
|
|
|
NM_001111.5(ADAR):c.75C>G (p.Leu25=)
|
|
|
NM_001111.5(ADAR):c.774A>G (p.Gly258=)
|
|
|
NM_001111.5(ADAR):c.84G>A (p.Gln28=)
|
|
|
NM_001111.5(ADAR):c.858C>T (p.Ala286=)
|
|
|
NM_001111.5(ADAR):c.891C>T (p.Ala297=)
|
|
|
NM_001111.5(ADAR):c.894G>A (p.Glu298=)
|
|
|
NM_001111.5(ADAR):c.912C>T (p.Cys304=)
|
|
|
NM_001111.5(ADAR):c.930G>T (p.Val310=)
|
|
|
NM_001111.5(ADAR):c.939C>T (p.Ser313=)
|
|
|
NM_001111.5(ADAR):c.957T>C (p.Ala319=)
|
|
|
NM_001111.5(ADAR):c.978G>A (p.Lys326=)
|
|
|
NM_001111.5(ADAR):c.981C>T (p.Ala327=)
|
|
|
NM_001111.5(ADAR):c.987T>C (p.Asp329=)
|
|
|
NM_001111.5(ADAR):c.993T>C (p.Asn331=)
|
rs2101640808
|
|
NM_001122681.2(SH3BP2):c.*742C>A
|
rs535270976
|
|
NM_001122681.2(SH3BP2):c.1008C>T (p.Ser336=)
|
rs1724887772
|
|
NM_001122681.2(SH3BP2):c.1032A>G (p.Pro344=)
|
|
|
NM_001122681.2(SH3BP2):c.1071C>T (p.Pro357=)
|
|
|
NM_001122681.2(SH3BP2):c.1131T>C (p.Phe377=)
|
rs1193342545
|
|
NM_001122681.2(SH3BP2):c.1137C>T (p.Pro379=)
|
|
|
NM_001122681.2(SH3BP2):c.1206G>A (p.Leu402=)
|
|
|
NM_001122681.2(SH3BP2):c.1209C>T (p.Pro403=)
|
rs1033052376
|
|
NM_001122681.2(SH3BP2):c.1221G>A (p.Lys407=)
|
rs1333422072
|
|
NM_001122681.2(SH3BP2):c.1230C>T (p.Leu410=)
|
|
|
NM_001122681.2(SH3BP2):c.1233G>T (p.Pro411=)
|
|
|
NM_001122681.2(SH3BP2):c.1241+10T>C
|
rs778876594
|
|
NM_001122681.2(SH3BP2):c.1241+16G>A
|
rs1294466954
|
|
NM_001122681.2(SH3BP2):c.1242-12C>T
|
|
|
NM_001122681.2(SH3BP2):c.1242-16C>T
|
|
|
NM_001122681.2(SH3BP2):c.1242-7C>T
|
|
|
NM_001122681.2(SH3BP2):c.1252C>T (p.Pro418Ser)
|
rs757336022
|
|
NM_001122681.2(SH3BP2):c.1280_1282del (p.Ser427del)
|
rs771719677
|
|
NM_001122681.2(SH3BP2):c.1293C>G (p.Pro431=)
|
|
|
NM_001122681.2(SH3BP2):c.1296G>A (p.Arg432=)
|
|
|
NM_001122681.2(SH3BP2):c.1332G>C (p.Ser444=)
|
|
|
NM_001122681.2(SH3BP2):c.1350+12C>T
|
|
|
NM_001122681.2(SH3BP2):c.1350+13G>A
|
|
|
NM_001122681.2(SH3BP2):c.1353G>A (p.Val451=)
|
|
|
NM_001122681.2(SH3BP2):c.1371C>G (p.Val457=)
|
|
|
NM_001122681.2(SH3BP2):c.1383C>G (p.Thr461=)
|
rs2108741581
|
|
NM_001122681.2(SH3BP2):c.1386G>T (p.Thr462=)
|
rs139409304
|
|
NM_001122681.2(SH3BP2):c.1392C>T (p.Ser464=)
|
|
|
NM_001122681.2(SH3BP2):c.1406+11A>G
|
|
|
NM_001122681.2(SH3BP2):c.1406+15C>G
|
|
|
NM_001122681.2(SH3BP2):c.1407-12_1407-11del
|
rs765712961
|
|
NM_001122681.2(SH3BP2):c.1416G>A (p.Lys472=)
|
rs201375256
|
|
NM_001122681.2(SH3BP2):c.1425C>T (p.Ser475=)
|
rs768514069
|
|
NM_001122681.2(SH3BP2):c.1440C>G (p.Pro480=)
|
|
|
NM_001122681.2(SH3BP2):c.1482G>A (p.Ser494=)
|
|
|
NM_001122681.2(SH3BP2):c.1488+7G>T
|
rs113327530
|
|
NM_001122681.2(SH3BP2):c.1488+9C>T
|
rs1577371649
|
|
NM_001122681.2(SH3BP2):c.1489-4G>A
|
|
|
NM_001122681.2(SH3BP2):c.1489-6C>T
|
rs762256499
|
|
NM_001122681.2(SH3BP2):c.1491C>G (p.Val497=)
|
|
|
NM_001122681.2(SH3BP2):c.1500G>A (p.Val500=)
|
rs2108742910
|
|
NM_001122681.2(SH3BP2):c.1506C>T (p.Asp502=)
|
|
|
NM_001122681.2(SH3BP2):c.1518C>T (p.Asn506=)
|
rs1577372648
|
|
NM_001122681.2(SH3BP2):c.1548+20G>T
|
rs2108742974
|
|
NM_001122681.2(SH3BP2):c.1548+9G>T
|
|
|
NM_001122681.2(SH3BP2):c.1549-14C>T
|
|
|
NM_001122681.2(SH3BP2):c.1549-15del
|
|
|
NM_001122681.2(SH3BP2):c.1549-19C>G
|
rs1449962815
|
|
NM_001122681.2(SH3BP2):c.1549-19_1549-17del
|
|
|
NM_001122681.2(SH3BP2):c.1549-5dup
|
rs781203929
|
|
NM_001122681.2(SH3BP2):c.1549-9_1549-8delinsAA
|
rs2108743656
|
|
NM_001122681.2(SH3BP2):c.1566G>A (p.Leu522=)
|
|
|
NM_001122681.2(SH3BP2):c.1572C>T (p.Gly524=)
|
|
|
NM_001122681.2(SH3BP2):c.1593G>C (p.Val531=)
|
rs1577373797
|
|
NM_001122681.2(SH3BP2):c.1596C>T (p.Gly532=)
|
rs1577373806
|
|
NM_001122681.2(SH3BP2):c.1611C>T (p.His537=)
|
|
|
NM_001122681.2(SH3BP2):c.1620C>T (p.Thr540=)
|
|
|
NM_001122681.2(SH3BP2):c.1635C>T (p.Ser545=)
|
|
|
NM_001122681.2(SH3BP2):c.1656G>A (p.Arg552=)
|
|
|
NM_001122681.2(SH3BP2):c.1662C>T (p.Pro554=)
|
rs775871629
|
|
NM_001122681.2(SH3BP2):c.1668C>A (p.Gly556=)
|
rs2108743851
|
|
NM_001122681.2(SH3BP2):c.239+18C>T
|
|
|
NM_001122681.2(SH3BP2):c.240-17del
|
|
|
NM_001122681.2(SH3BP2):c.299_300delinsGC (p.His100Arg)
|
rs1577359424
|
|
NM_001122681.2(SH3BP2):c.303C>T (p.Ile101=)
|
|
|
NM_001122681.2(SH3BP2):c.330C>T (p.Phe110=)
|
|
|
NM_001122681.2(SH3BP2):c.357+14C>T
|
rs752171978
|
|
NM_001122681.2(SH3BP2):c.357+15G>A
|
|
|
NM_001122681.2(SH3BP2):c.357+17G>A
|
|
|
NM_001122681.2(SH3BP2):c.369C>T (p.Ala123=)
|
rs2108731277
|
|
NM_001122681.2(SH3BP2):c.378C>T (p.Arg126=)
|
|
|
NM_001122681.2(SH3BP2):c.399C>T (p.His133=)
|
|
|
NM_001122681.2(SH3BP2):c.39G>A (p.Lys13=)
|
|
|
NM_001122681.2(SH3BP2):c.428+12C>A
|
|
|
NM_001122681.2(SH3BP2):c.428+16G>C
|
|
|
NM_001122681.2(SH3BP2):c.428+20A>C
|
|
|
NM_001122681.2(SH3BP2):c.429-15C>T
|
|
|
NM_001122681.2(SH3BP2):c.429-16G>T
|
rs528073383
|
|
NM_001122681.2(SH3BP2):c.429-18A>C
|
|
|
NM_001122681.2(SH3BP2):c.429C>T (p.Ser143=)
|
rs140532510
|
|
NM_001122681.2(SH3BP2):c.42C>T (p.Ala14=)
|
rs755936125
|
|
NM_001122681.2(SH3BP2):c.447A>G (p.Thr149=)
|
rs1298346520
|
|
NM_001122681.2(SH3BP2):c.453C>T (p.Ser151=)
|
|
|
NM_001122681.2(SH3BP2):c.462C>T (p.Gly154=)
|
|
|
NM_001122681.2(SH3BP2):c.498G>A (p.Pro166=)
|
|
|
NM_001122681.2(SH3BP2):c.517+16G>A
|
|
|
NM_001122681.2(SH3BP2):c.517+8C>T
|
|
|
NM_001122681.2(SH3BP2):c.518-11_518-10del
|
rs754201419
|
|
NM_001122681.2(SH3BP2):c.518-14C>T
|
|
|
NM_001122681.2(SH3BP2):c.518-15C>A
|
|
|
NM_001122681.2(SH3BP2):c.518-16C>A
|
rs367809628
|
|
NM_001122681.2(SH3BP2):c.518-16C>G
|
rs367809628
|
|
NM_001122681.2(SH3BP2):c.555G>A (p.Glu185=)
|
|
|
NM_001122681.2(SH3BP2):c.567G>A (p.Pro189=)
|
|
|
NM_001122681.2(SH3BP2):c.573C>G (p.Pro191=)
|
|
|
NM_001122681.2(SH3BP2):c.586+11C>T
|
|
|
NM_001122681.2(SH3BP2):c.586+12G>A
|
|
|
NM_001122681.2(SH3BP2):c.586+8G>C
|
rs28516876
|
|
NM_001122681.2(SH3BP2):c.586+9G>A
|
|
|
NM_001122681.2(SH3BP2):c.587-10del
|
rs772225297
|
|
NM_001122681.2(SH3BP2):c.587-11T>C
|
rs2108738338
|
|
NM_001122681.2(SH3BP2):c.587-19G>C
|
rs780910191
|
|
NM_001122681.2(SH3BP2):c.587-4G>T
|
rs2108738343
|
|
NM_001122681.2(SH3BP2):c.672C>T (p.His224=)
|
rs1724858059
|
|
NM_001122681.2(SH3BP2):c.690C>T (p.Gly230=)
|
rs935894084
|
|
NM_001122681.2(SH3BP2):c.693C>T (p.Pro231=)
|
|
|
NM_001122681.2(SH3BP2):c.702A>C (p.Leu234=)
|
rs1197887204
|
|
NM_001122681.2(SH3BP2):c.703C>T (p.Leu235=)
|
|
|
NM_001122681.2(SH3BP2):c.705G>A (p.Leu235=)
|
|
|
NM_001122681.2(SH3BP2):c.720T>A (p.Pro240=)
|
rs1414460870
|
|
NM_001122681.2(SH3BP2):c.726C>T (p.His242=)
|
|
|
NM_001122681.2(SH3BP2):c.745C>T (p.Leu249=)
|
rs1398743947
|
|
NM_001122681.2(SH3BP2):c.750T>A (p.Ala250=)
|
rs231399
|
|
NM_001122681.2(SH3BP2):c.762C>T (p.Ser254=)
|
rs2108738650
|
|
NM_001122681.2(SH3BP2):c.771C>T (p.Asp257=)
|
|
|
NM_001122681.2(SH3BP2):c.782C>T (p.Pro261Leu)
|
rs146213141
|
|
NM_001122681.2(SH3BP2):c.783G>A (p.Pro261=)
|
|
|
NM_001122681.2(SH3BP2):c.783G>C (p.Pro261=)
|
|
|
NM_001122681.2(SH3BP2):c.787C>A (p.Arg263=)
|
rs539765774
|
|
NM_001122681.2(SH3BP2):c.789G>T (p.Arg263=)
|
|
|
NM_001122681.2(SH3BP2):c.882C>G (p.Pro294=)
|
|
|
NM_001122681.2(SH3BP2):c.936C>T (p.His312=)
|
|
|
NM_001122681.2(SH3BP2):c.963C>T (p.Ala321=)
|
|
|
NM_001122681.2(SH3BP2):c.984C>T (p.Ser328=)
|
|
|
NM_001127671.2(LIFR):c.143-37GT[15]
|
rs10637374
|
|
NM_001171.6(ABCC6):c.1176+6C>T
|
rs72664295
|
|
NM_001171.6(ABCC6):c.1368C>T (p.Ile456=)
|
rs141309818
|
|
NM_001171.6(ABCC6):c.2996-7_2996-4del
|
|
|
NM_001171.6(ABCC6):c.345+12T>C
|
rs759993107
|
|
NM_001171.6(ABCC6):c.3903C>T (p.Thr1301=)
|
rs201812902
|
|
NM_001171.6(ABCC6):c.473C>T (p.Ala158Val)
|
rs2606921
|
|
NM_001171.6(ABCC6):c.855C>T (p.Thr285=)
|
rs4780605
|
|
NM_001189.4(NKX3-2):c.190G>C (p.Gly64Arg)
|
rs202195290
|
|
NM_001199138.2(NLRC4):c.1+10T>A
|
rs1430132339
|
|
NM_001199138.2(NLRC4):c.1+11G>T
|
rs1391684257
|
|
NM_001199138.2(NLRC4):c.1014T>C (p.Pro338=)
|
rs757435071
|
|
NM_001199138.2(NLRC4):c.1020T>C (p.Phe340=)
|
|
|
NM_001199138.2(NLRC4):c.1023G>C (p.Val341=)
|
|
|
NM_001199138.2(NLRC4):c.1098C>T (p.Phe366=)
|
|
|
NM_001199138.2(NLRC4):c.1149A>C (p.Ala383=)
|
|
|
NM_001199138.2(NLRC4):c.1155C>T (p.Asp385=)
|
|
|
NM_001199138.2(NLRC4):c.1164G>C (p.Arg388=)
|
rs2148942481
|
|
NM_001199138.2(NLRC4):c.1170G>A (p.Leu390=)
|
|
|
NM_001199138.2(NLRC4):c.120C>A (p.Ile40=)
|
rs2148943838
|
|
NM_001199138.2(NLRC4):c.1242C>T (p.Ser414=)
|
rs760629927
|
|
NM_001199138.2(NLRC4):c.1245C>T (p.Ser415=)
|
|
|
NM_001199138.2(NLRC4):c.1290T>C (p.Tyr430=)
|
rs769791090
|
|
NM_001199138.2(NLRC4):c.1317T>C (p.Tyr439=)
|
rs1436221953
|
|
NM_001199138.2(NLRC4):c.132G>A (p.Glu44=)
|
|
|
NM_001199138.2(NLRC4):c.1461T>C (p.Tyr487=)
|
|
|
NM_001199138.2(NLRC4):c.1467C>T (p.Ser489=)
|
rs1203856404
|
|
NM_001199138.2(NLRC4):c.1476G>T (p.Arg492=)
|
rs952121500
|
|
NM_001199138.2(NLRC4):c.1509G>A (p.Arg503=)
|
|
|
NM_001199138.2(NLRC4):c.1512T>C (p.Ala504=)
|
|
|
NM_001199138.2(NLRC4):c.1527C>T (p.Leu509=)
|
|
|
NM_001199138.2(NLRC4):c.1536G>C (p.Val512=)
|
|
|
NM_001199138.2(NLRC4):c.153T>C (p.Ala51=)
|
|
|
NM_001199138.2(NLRC4):c.1599T>C (p.Ser533=)
|
|
|
NM_001199138.2(NLRC4):c.1608T>C (p.Ser536=)
|
|
|
NM_001199138.2(NLRC4):c.1665A>G (p.Val555=)
|
rs2148942028
|
|
NM_001199138.2(NLRC4):c.1776C>A (p.Pro592=)
|
rs186059604
|
|
NM_001199138.2(NLRC4):c.1776C>G (p.Pro592=)
|
|
|
NM_001199138.2(NLRC4):c.1776C>T (p.Pro592=)
|
rs186059604
|
|
NM_001199138.2(NLRC4):c.1798del (p.Glu600fs)
|
|
|
NM_001199138.2(NLRC4):c.1809C>T (p.Pro603=)
|
|
|
NM_001199138.2(NLRC4):c.1830C>T (p.Asp610=)
|
rs2148941860
|
|
NM_001199138.2(NLRC4):c.1878G>A (p.Lys626=)
|
rs773908458
|
|
NM_001199138.2(NLRC4):c.189A>C (p.Ser63=)
|
|
|
NM_001199138.2(NLRC4):c.1929C>T (p.Tyr643=)
|
rs2148941779
|
|
NM_001199138.2(NLRC4):c.1944T>C (p.Ala648=)
|
|
|
NM_001199138.2(NLRC4):c.2-2A>G
|
|
|
NM_001199138.2(NLRC4):c.2-6C>T
|
|
|
NM_001199138.2(NLRC4):c.2-8C>G
|
rs2148943949
|
|
NM_001199138.2(NLRC4):c.201C>T (p.Asn67=)
|
rs201127432
|
|
NM_001199138.2(NLRC4):c.2043G>A (p.Gly681=)
|
|
|
NM_001199138.2(NLRC4):c.2064A>G (p.Thr688=)
|
|
|
NM_001199138.2(NLRC4):c.2085G>A (p.Lys695=)
|
|
|
NM_001199138.2(NLRC4):c.2091T>C (p.Cys697=)
|
rs2148941651
|
|
NM_001199138.2(NLRC4):c.2124C>T (p.Leu708=)
|
|
|
NM_001199138.2(NLRC4):c.2139C>T (p.Asn713=)
|
|
|
NM_001199138.2(NLRC4):c.21T>C (p.Asn7=)
|
|
|
NM_001199138.2(NLRC4):c.2202T>A (p.Ser734=)
|
|
|
NM_001199138.2(NLRC4):c.2217A>G (p.Lys739=)
|
|
|
NM_001199138.2(NLRC4):c.2232T>C (p.His744=)
|
rs745938557
|
|
NM_001199138.2(NLRC4):c.2257+17T>C
|
rs1687015676
|
|
NM_001199138.2(NLRC4):c.2257+20T>G
|
|
|
NM_001199138.2(NLRC4):c.2257+7T>C
|
rs1573491625
|
|
NM_001199138.2(NLRC4):c.2258-15T>G
|
rs2148936567
|
|
NM_001199138.2(NLRC4):c.2258-19A>G
|
|
|
NM_001199138.2(NLRC4):c.2258-5G>C
|
|
|
NM_001199138.2(NLRC4):c.2258-8T>C
|
rs2148936557
|
|
NM_001199138.2(NLRC4):c.2268_2271del (p.Asp757fs)
|
rs746204807
|
|
NM_001199138.2(NLRC4):c.2277G>A (p.Leu759=)
|
rs1573480813
|
|
NM_001199138.2(NLRC4):c.2284T>C (p.Leu762=)
|
|
|
NM_001199138.2(NLRC4):c.2313T>C (p.Asp771=)
|
|
|
NM_001199138.2(NLRC4):c.2350+15C>A
|
|
|
NM_001199138.2(NLRC4):c.2350+18A>G
|
|
|
NM_001199138.2(NLRC4):c.2350+9T>A
|
rs146103494
|
|
NM_001199138.2(NLRC4):c.2350+9del
|
rs1686787668
|
|
NM_001199138.2(NLRC4):c.2351-11T>C
|
|
|
NM_001199138.2(NLRC4):c.2351-18C>T
|
|
|
NM_001199138.2(NLRC4):c.2388T>C (p.Phe796=)
|
|
|
NM_001199138.2(NLRC4):c.2391T>C (p.His797=)
|
rs779700770
|
|
NM_001199138.2(NLRC4):c.2478A>G (p.Gln826=)
|
|
|
NM_001199138.2(NLRC4):c.2496G>A (p.Leu832=)
|
|
|
NM_001199138.2(NLRC4):c.2521+12T>G
|
|
|
NM_001199138.2(NLRC4):c.2522-11T>C
|
|
|
NM_001199138.2(NLRC4):c.2522-8T>C
|
rs1573475609
|
|
NM_001199138.2(NLRC4):c.2548C>T (p.Leu850=)
|
|
|
NM_001199138.2(NLRC4):c.2589T>C (p.Asp863=)
|
rs1573475520
|
|
NM_001199138.2(NLRC4):c.2614+7A>G
|
|
|
NM_001199138.2(NLRC4):c.2615-13_2615-12del
|
rs767338677
|
|
NM_001199138.2(NLRC4):c.2615-20C>A
|
|
|
NM_001199138.2(NLRC4):c.2615-8T>C
|
rs1553343121
|
|
NM_001199138.2(NLRC4):c.2616C>T (p.Ile872=)
|
|
|
NM_001199138.2(NLRC4):c.262+10A>G
|
|
|
NM_001199138.2(NLRC4):c.262+20G>C
|
rs2148943710
|
|
NM_001199138.2(NLRC4):c.262+8T>A
|
rs1447800775
|
|
NM_001199138.2(NLRC4):c.2628C>A (p.Asn876Lys)
|
rs145285650
|
|
NM_001199138.2(NLRC4):c.263-11T>C
|
|
|
NM_001199138.2(NLRC4):c.263-19A>G
|
|
|
NM_001199138.2(NLRC4):c.263-20C>T
|
rs2148943243
|
|
NM_001199138.2(NLRC4):c.263-9C>T
|
rs1687080685
|
|
NM_001199138.2(NLRC4):c.2631G>A (p.Val877=)
|
rs544474213
|
|
NM_001199138.2(NLRC4):c.2658G>A (p.Leu886=)
|
|
|
NM_001199138.2(NLRC4):c.265del (p.Leu89fs)
|
|
|
NM_001199138.2(NLRC4):c.2688G>A (p.Leu896=)
|
|
|
NM_001199138.2(NLRC4):c.2691C>T (p.Ser897=)
|
|
|
NM_001199138.2(NLRC4):c.2700G>A (p.Leu900=)
|
|
|
NM_001199138.2(NLRC4):c.2715G>A (p.Glu905=)
|
|
|
NM_001199138.2(NLRC4):c.2721A>G (p.Pro907=)
|
rs1686650727
|
|
NM_001199138.2(NLRC4):c.2739G>A (p.Gly913=)
|
rs778050684
|
|
NM_001199138.2(NLRC4):c.2772T>C (p.Ile924=)
|
|
|
NM_001199138.2(NLRC4):c.2782+18G>A
|
|
|
NM_001199138.2(NLRC4):c.2782+18G>T
|
|
|
NM_001199138.2(NLRC4):c.2782+19A>G
|
|
|
NM_001199138.2(NLRC4):c.2782+9A>T
|
|
|
NM_001199138.2(NLRC4):c.2783-13T>A
|
|
|
NM_001199138.2(NLRC4):c.2802C>T (p.Asn934=)
|
rs748341490
|
|
NM_001199138.2(NLRC4):c.2835G>A (p.Ala945=)
|
rs1464438302
|
|
NM_001199138.2(NLRC4):c.2865T>G (p.Leu955=)
|
|
|
NM_001199138.2(NLRC4):c.2886G>A (p.Glu962=)
|
|
|
NM_001199138.2(NLRC4):c.2904G>C (p.Val968=)
|
rs2148927448
|
|
NM_001199138.2(NLRC4):c.2916T>C (p.Phe972=)
|
rs2148927438
|
|
NM_001199138.2(NLRC4):c.2970G>A (p.Val990=)
|
rs1191568410
|
|
NM_001199138.2(NLRC4):c.301T>C (p.Leu101=)
|
|
|
NM_001199138.2(NLRC4):c.307C>T (p.Gln103Ter)
|
|
|
NM_001199138.2(NLRC4):c.315A>G (p.Leu105=)
|
rs757595288
|
|
NM_001199138.2(NLRC4):c.327C>T (p.Tyr109=)
|
rs1031872180
|
|
NM_001199138.2(NLRC4):c.411T>G (p.Pro137=)
|
rs1687076385
|
|
NM_001199138.2(NLRC4):c.415C>T (p.Leu139=)
|
|
|
NM_001199138.2(NLRC4):c.432A>G (p.Gln144=)
|
rs1192506477
|
|
NM_001199138.2(NLRC4):c.444C>T (p.Arg148=)
|
rs771272152
|
|
NM_001199138.2(NLRC4):c.456G>A (p.Leu152=)
|
|
|
NM_001199138.2(NLRC4):c.459C>G (p.Thr153=)
|
rs1687075064
|
|
NM_001199138.2(NLRC4):c.459C>T (p.Thr153=)
|
|
|
NM_001199138.2(NLRC4):c.486G>A (p.Gln162=)
|
rs2148943069
|
|
NM_001199138.2(NLRC4):c.513T>G (p.Ser171=)
|
rs1050080627
|
|
NM_001199138.2(NLRC4):c.561C>A (p.Gly187=)
|
|
|
NM_001199138.2(NLRC4):c.564C>T (p.Ser188=)
|
rs753073813
|
|
NM_001199138.2(NLRC4):c.585C>G (p.Thr195=)
|
|
|
NM_001199138.2(NLRC4):c.603C>T (p.Phe201=)
|
rs2148942969
|
|
NM_001199138.2(NLRC4):c.633A>C (p.Gly211=)
|
|
|
NM_001199138.2(NLRC4):c.645C>T (p.Thr215=)
|
|
|
NM_001199138.2(NLRC4):c.648C>A (p.Leu216=)
|
rs1474523535
|
|
NM_001199138.2(NLRC4):c.687G>A (p.Lys229=)
|
|
|
NM_001199138.2(NLRC4):c.744T>C (p.Asp248=)
|
rs1390938463
|
|
NM_001199138.2(NLRC4):c.768G>A (p.Gln256=)
|
|
|
NM_001199138.2(NLRC4):c.78C>T (p.Asp26=)
|
|
|
NM_001199138.2(NLRC4):c.816G>A (p.Lys272=)
|
rs2148942791
|
|
NM_001199138.2(NLRC4):c.81A>G (p.Leu27=)
|
|
|
NM_001199138.2(NLRC4):c.825C>A (p.Val275=)
|
|
|
NM_001199138.2(NLRC4):c.852G>A (p.Leu284=)
|
|
|
NM_001199138.2(NLRC4):c.855G>A (p.Arg285=)
|
rs2148942750
|
|
NM_001199138.2(NLRC4):c.951T>A (p.Leu317=)
|
rs2148942640
|
|
NM_001199138.2(NLRC4):c.964T>C (p.Leu322=)
|
|
|
NM_001199138.2(NLRC4):c.966G>A (p.Leu322=)
|
rs1573494091
|
|
NM_001243133.2(NLRP3):c.1011G>A (p.Lys337=)
|
rs766978634
|
|
NM_001243133.2(NLRP3):c.102G>A (p.Lys34=)
|
rs2103083890
|
|
NM_001243133.2(NLRP3):c.1065A>G (p.Lys355=)
|
|
|
NM_001243133.2(NLRP3):c.1066C>T (p.Leu356=)
|
|
|
NM_001243133.2(NLRP3):c.1068G>T (p.Leu356=)
|
rs768999601
|
|
NM_001243133.2(NLRP3):c.108C>T (p.Cys36=)
|
|
|
NM_001243133.2(NLRP3):c.1131A>G (p.Lys377=)
|
rs755556220
|
|
NM_001243133.2(NLRP3):c.1146G>A (p.Lys382=)
|
rs1572170471
|
|
NM_001243133.2(NLRP3):c.1182C>T (p.Phe394=)
|
|
|
NM_001243133.2(NLRP3):c.120G>A (p.Pro40=)
|
|
|
NM_001243133.2(NLRP3):c.1221C>T (p.Cys407=)
|
rs144577477
|
|
NM_001243133.2(NLRP3):c.1227C>A (p.Ile409=)
|
rs2103109777
|
|
NM_001243133.2(NLRP3):c.129G>A (p.Gln43=)
|
|
|
NM_001243133.2(NLRP3):c.1305G>A (p.Lys435=)
|
rs1553286808
|
|
NM_001243133.2(NLRP3):c.1374C>T (p.His458=)
|
rs180177481
|
|
NM_001243133.2(NLRP3):c.1377C>T (p.Gly459=)
|
|
|
NM_001243133.2(NLRP3):c.1392C>G (p.Leu464=)
|
rs868682097
|
|
NM_001243133.2(NLRP3):c.1398G>A (p.Gly466=)
|
|
|
NM_001243133.2(NLRP3):c.1404C>T (p.Cys468=)
|
|
|
NM_001243133.2(NLRP3):c.1440C>A (p.Ile480=)
|
rs756162800
|
|
NM_001243133.2(NLRP3):c.1485G>A (p.Ala495=)
|
rs373973057
|
|
NM_001243133.2(NLRP3):c.1513C>T (p.Leu505=)
|
|
|
NM_001243133.2(NLRP3):c.1515G>C (p.Leu505=)
|
|
|
NM_001243133.2(NLRP3):c.1524G>A (p.Lys508=)
|
|
|
NM_001243133.2(NLRP3):c.1530G>C (p.Val510=)
|
rs2103111217
|
|
NM_001243133.2(NLRP3):c.1536C>T (p.Cys512=)
|
|
|
NM_001243133.2(NLRP3):c.154C>T (p.Leu52=)
|
rs1475761802
|
|
NM_001243133.2(NLRP3):c.1566T>G (p.Thr522=)
|
|
|
NM_001243133.2(NLRP3):c.1572G>A (p.Gln524=)
|
|
|
NM_001243133.2(NLRP3):c.1593C>T (p.Tyr531=)
|
rs1447593373
|
|
NM_001243133.2(NLRP3):c.15C>A (p.Arg5=)
|
|
|
NM_001243133.2(NLRP3):c.1629C>T (p.Asn543=)
|
|
|
NM_001243133.2(NLRP3):c.162G>A (p.Thr54=)
|
|
|
NM_001243133.2(NLRP3):c.1630G>A (p.Val544Ile)
|
|
|
NM_001243133.2(NLRP3):c.1674C>T (p.Val558=)
|
rs1572172738
|
|
NM_001243133.2(NLRP3):c.1683A>G (p.Glu561=)
|
|
|
NM_001243133.2(NLRP3):c.177C>T (p.Phe59=)
|
rs1572152477
|
|
NM_001243133.2(NLRP3):c.1884G>A (p.Leu628=)
|
rs1043912541
|
|
NM_001243133.2(NLRP3):c.1899C>T (p.Tyr633=)
|
rs200089426
|
|
NM_001243133.2(NLRP3):c.1914G>A (p.Glu638=)
|
|
|
NM_001243133.2(NLRP3):c.1947C>T (p.Pro649=)
|
|
|
NM_001243133.2(NLRP3):c.195G>A (p.Ala65=)
|
rs201205620
|
|
NM_001243133.2(NLRP3):c.195G>C (p.Ala65=)
|
|
|
NM_001243133.2(NLRP3):c.1965C>G (p.Leu655=)
|
|
|
NM_001243133.2(NLRP3):c.2040G>C (p.Gly680=)
|
rs201794702
|
|
NM_001243133.2(NLRP3):c.2046C>T (p.Leu682=)
|
|
|
NM_001243133.2(NLRP3):c.2076G>A (p.Glu692=)
|
|
|
NM_001243133.2(NLRP3):c.2094C>T (p.His698=)
|
|
|
NM_001243133.2(NLRP3):c.2115C>T (p.Val705=)
|
|
|
NM_001243133.2(NLRP3):c.2121A>G (p.Pro707=)
|
rs2103114104
|
|
NM_001243133.2(NLRP3):c.2134G>T (p.Ala712Ser)
|
rs200474460
|
|
NM_001243133.2(NLRP3):c.2150+15C>T
|
|
|
NM_001243133.2(NLRP3):c.2150+20A>C
|
|
|
NM_001243133.2(NLRP3):c.2150+9A>G
|
|
|
NM_001243133.2(NLRP3):c.2172T>A (p.Thr724=)
|
rs201102829
|
|
NM_001243133.2(NLRP3):c.2185C>A (p.Arg729=)
|
rs148590318
|
|
NM_001243133.2(NLRP3):c.2230T>C (p.Leu744=)
|
rs2103132496
|
|
NM_001243133.2(NLRP3):c.224C>T (p.Ala75Val)
|
rs200288250
|
|
NM_001243133.2(NLRP3):c.2292G>A (p.Gln764=)
|
|
|
NM_001243133.2(NLRP3):c.2301C>T (p.Gly767=)
|
|
|
NM_001243133.2(NLRP3):c.2317T>C (p.Leu773=)
|
|
|
NM_001243133.2(NLRP3):c.2321+15A>G
|
|
|
NM_001243133.2(NLRP3):c.2322-14T>A
|
rs1260877694
|
|
NM_001243133.2(NLRP3):c.2322-14T>G
|
rs1260877694
|
|
NM_001243133.2(NLRP3):c.2322-19C>G
|
rs2103162091
|
|
NM_001243133.2(NLRP3):c.2359G>A (p.Asp787Asn)
|
|
|
NM_001243133.2(NLRP3):c.2403G>A (p.Leu801=)
|
|
|
NM_001243133.2(NLRP3):c.2492+13C>G
|
|
|
NM_001243133.2(NLRP3):c.2492+14G>A
|
|
|
NM_001243133.2(NLRP3):c.2492+8G>C
|
|
|
NM_001243133.2(NLRP3):c.2493-13A>G
|
|
|
NM_001243133.2(NLRP3):c.2493-7A>G
|
|
|
NM_001243133.2(NLRP3):c.2494T>C (p.Leu832=)
|
rs1221750300
|
|
NM_001243133.2(NLRP3):c.2505C>T (p.Cys835=)
|
rs1351993448
|
|
NM_001243133.2(NLRP3):c.251A>G (p.Lys84Arg)
|
rs2103084742
|
|
NM_001243133.2(NLRP3):c.2523T>C (p.Cys841=)
|
rs202052269
|
|
NM_001243133.2(NLRP3):c.2538A>T (p.Ala846=)
|
rs1663766253
|
|
NM_001243133.2(NLRP3):c.2545T>C (p.Leu849=)
|
|
|
NM_001243133.2(NLRP3):c.2563C>T (p.Leu855=)
|
rs2103173841
|
|
NM_001243133.2(NLRP3):c.2580G>A (p.Val860=)
|
|
|
NM_001243133.2(NLRP3):c.2592C>T (p.Ala864=)
|
rs1042922617
|
|
NM_001243133.2(NLRP3):c.2610C>A (p.Val870=)
|
rs140618467
|
|
NM_001243133.2(NLRP3):c.2610C>T (p.Val870=)
|
rs140618467
|
|
NM_001243133.2(NLRP3):c.2630C>G (p.Ala877Gly)
|
|
|
NM_001243133.2(NLRP3):c.2663+12T>C
|
|
|
NM_001243133.2(NLRP3):c.2663+17G>T
|
|
|
NM_001243133.2(NLRP3):c.2664-14C>T
|
|
|
NM_001243133.2(NLRP3):c.2664-16C>T
|
|
|
NM_001243133.2(NLRP3):c.267G>A (p.Glu89=)
|
|
|
NM_001243133.2(NLRP3):c.2709C>A (p.Ser903=)
|
rs145787821
|
|
NM_001243133.2(NLRP3):c.2709C>T (p.Ser903=)
|
rs145787821
|
|
NM_001243133.2(NLRP3):c.270G>A (p.Pro90=)
|
rs771343047
|
|
NM_001243133.2(NLRP3):c.2712G>A (p.Ser904=)
|
|
|
NM_001243133.2(NLRP3):c.2724T>A (p.Thr908=)
|
rs773266606
|
|
NM_001243133.2(NLRP3):c.2739G>A (p.Thr913=)
|
|
|
NM_001243133.2(NLRP3):c.2739G>C (p.Thr913=)
|
|
|
NM_001243133.2(NLRP3):c.277+11G>C
|
|
|
NM_001243133.2(NLRP3):c.277+16A>G
|
|
|
NM_001243133.2(NLRP3):c.277+20T>C
|
|
|
NM_001243133.2(NLRP3):c.278-10T>C
|
rs184042335
|
|
NM_001243133.2(NLRP3):c.278-16T>C
|
rs1662593471
|
|
NM_001243133.2(NLRP3):c.278-17T>C
|
|
|
NM_001243133.2(NLRP3):c.27C>T (p.Ala9=)
|
|
|
NM_001243133.2(NLRP3):c.2811C>G (p.Pro937=)
|
rs545121784
|
|
NM_001243133.2(NLRP3):c.2814C>T (p.Asp938=)
|
|
|
NM_001243133.2(NLRP3):c.282A>G (p.Ser94=)
|
rs374949230
|
|
NM_001243133.2(NLRP3):c.2834+13G>C
|
rs1664436270
|
|
NM_001243133.2(NLRP3):c.2835-14C>T
|
|
|
NM_001243133.2(NLRP3):c.2886T>G (p.Leu962=)
|
|
|
NM_001243133.2(NLRP3):c.2949G>C (p.Gly983=)
|
|
|
NM_001243133.2(NLRP3):c.2970G>A (p.Val990=)
|
|
|
NM_001243133.2(NLRP3):c.3005+10C>T
|
|
|
NM_001243133.2(NLRP3):c.3006-14A>G
|
|
|
NM_001243133.2(NLRP3):c.3006-14A>T
|
|
|
NM_001243133.2(NLRP3):c.3006-18_3006-15del
|
|
|
NM_001243133.2(NLRP3):c.3063A>G (p.Glu1021=)
|
|
|
NM_001243133.2(NLRP3):c.318C>T (p.Cys106=)
|
|
|
NM_001243133.2(NLRP3):c.339G>A (p.Glu113=)
|
rs2103102556
|
|
NM_001243133.2(NLRP3):c.351T>C (p.Gly117=)
|
|
|
NM_001243133.2(NLRP3):c.397+17G>T
|
rs1662610608
|
|
NM_001243133.2(NLRP3):c.397+7G>T
|
rs192297357
|
|
NM_001243133.2(NLRP3):c.398-4G>A
|
rs776409846
|
|
NM_001243133.2(NLRP3):c.398-4G>T
|
|
|
NM_001243133.2(NLRP3):c.39G>A (p.Glu13=)
|
|
|
NM_001243133.2(NLRP3):c.432C>T (p.Ser144=)
|
|
|
NM_001243133.2(NLRP3):c.450A>G (p.Glu150=)
|
rs1194375582
|
|
NM_001243133.2(NLRP3):c.501A>G (p.Thr167=)
|
|
|
NM_001243133.2(NLRP3):c.507G>A (p.Leu169=)
|
|
|
NM_001243133.2(NLRP3):c.51T>C (p.Asp17=)
|
rs1572151908
|
|
NM_001243133.2(NLRP3):c.573C>G (p.Thr191=)
|
rs867592082
|
|
NM_001243133.2(NLRP3):c.578C>A (p.Thr193Lys)
|
|
|
NM_001243133.2(NLRP3):c.578C>T (p.Thr193Met)
|
rs76291085
|
|
NM_001243133.2(NLRP3):c.588C>T (p.Ser196=)
|
rs2103106057
|
|
NM_001243133.2(NLRP3):c.591C>A (p.Pro197=)
|
rs3806267
|
|
NM_001243133.2(NLRP3):c.616C>T (p.Leu206=)
|
|
|
NM_001243133.2(NLRP3):c.618G>A (p.Leu206=)
|
rs201463849
|
|
NM_001243133.2(NLRP3):c.627C>T (p.Pro209=)
|
rs554444159
|
|
NM_001243133.2(NLRP3):c.633T>C (p.Asp211=)
|
|
|
NM_001243133.2(NLRP3):c.639T>C (p.His213=)
|
|
|
NM_001243133.2(NLRP3):c.657C>G (p.Thr219=)
|
rs7525979
|
|
NM_001243133.2(NLRP3):c.675G>A (p.Ala225=)
|
|
|
NM_001243133.2(NLRP3):c.699G>A (p.Leu233=)
|
rs180177498
|
|
NM_001243133.2(NLRP3):c.726G>T (p.Ala242=)
|
rs3806268
|
|
NM_001243133.2(NLRP3):c.765C>T (p.Phe255=)
|
|
|
NM_001243133.2(NLRP3):c.819G>T (p.Leu273=)
|
|
|
NM_001243133.2(NLRP3):c.834C>T (p.Cys278=)
|
|
|
NM_001243133.2(NLRP3):c.876C>T (p.Pro292=)
|
|
|
NM_001243133.2(NLRP3):c.969C>T (p.Ala323=)
|
|
|
NM_001243133.2(NLRP3):c.981C>T (p.Asp327=)
|
|
|
NM_001270508.2(TNFAIP3):c.291G>A (p.Thr97=)
|
|
|
NM_001282225.2(ADA2):c.1038G>A (p.Lys346=)
|
|
|
NM_001282225.2(ADA2):c.1053G>A (p.Leu351=)
|
rs2123633731
|
|
NM_001282225.2(ADA2):c.1071C>A (p.Ala357=)
|
rs144447953
|
|
NM_001282225.2(ADA2):c.1071C>T (p.Ala357=)
|
rs144447953
|
|
NM_001282225.2(ADA2):c.1081+12G>T
|
|
|
NM_001282225.2(ADA2):c.1081+16G>A
|
|
|
NM_001282225.2(ADA2):c.1081+16G>T
|
rs748240651
|
|
NM_001282225.2(ADA2):c.1081+18G>T
|
|
|
NM_001282225.2(ADA2):c.1081+19A>C
|
rs1601430503
|
|
NM_001282225.2(ADA2):c.1081+19_1081+20insATCCCGCT
|
rs776009181
|
|
NM_001282225.2(ADA2):c.1081+20G>A
|
|
|
NM_001282225.2(ADA2):c.1082-12C>A
|
|
|
NM_001282225.2(ADA2):c.1082-69GACCCATCCATCCCCCATGGAAGACCA[3]
|
rs577994684
|
|
NM_001282225.2(ADA2):c.108T>C (p.His36=)
|
rs1601462363
|
|
NM_001282225.2(ADA2):c.1104C>T (p.Asp368=)
|
|
|
NM_001282225.2(ADA2):c.1110C>T (p.Asn370=)
|
rs1489114116
|
|
NM_001282225.2(ADA2):c.111G>C (p.Leu37=)
|
|
|
NM_001282225.2(ADA2):c.1137_1139dup (p.Thr380dup)
|
rs780690814
|
|
NM_001282225.2(ADA2):c.1209C>T (p.Ile403=)
|
|
|
NM_001282225.2(ADA2):c.1218A>G (p.Glu406=)
|
|
|
NM_001282225.2(ADA2):c.1221C>G (p.Val407=)
|
rs1197542042
|
|
NM_001282225.2(ADA2):c.1239+10A>C
|
rs772137894
|
|
NM_001282225.2(ADA2):c.1240-15C>T
|
|
|
NM_001282225.2(ADA2):c.1240-4G>T
|
rs543336918
|
|
NM_001282225.2(ADA2):c.1240-5C>T
|
|
|
NM_001282225.2(ADA2):c.1240-5_1240-4delinsGA
|
rs2123601838
|
|
NM_001282225.2(ADA2):c.1266G>A (p.Arg422=)
|
|
|
NM_001282225.2(ADA2):c.1317C>T (p.Ser439=)
|
|
|
NM_001282225.2(ADA2):c.1371G>A (p.Glu457=)
|
|
|
NM_001282225.2(ADA2):c.138G>T (p.Leu46=)
|
rs7289141
|
|
NM_001282225.2(ADA2):c.141G>A (p.Gly47=)
|
rs764524723
|
|
NM_001282225.2(ADA2):c.1442+11_1442+12inv
|
|
|
NM_001282225.2(ADA2):c.1443-10C>A
|
rs2123599314
|
|
NM_001282225.2(ADA2):c.1443-18C>T
|
|
|
NM_001282225.2(ADA2):c.1443-6C>G
|
|
|
NM_001282225.2(ADA2):c.1443-8del
|
rs767628547
|
|
NM_001282225.2(ADA2):c.144G>A (p.Gly48=)
|
|
|
NM_001282225.2(ADA2):c.1452C>G (p.Thr484=)
|
|
|
NM_001282225.2(ADA2):c.1455G>A (p.Leu485=)
|
|
|
NM_001282225.2(ADA2):c.1497G>A (p.Lys499=)
|
rs2123598853
|
|
NM_001282225.2(ADA2):c.156G>A (p.Leu52=)
|
|
|
NM_001282225.2(ADA2):c.168G>A (p.Glu56=)
|
|
|
NM_001282225.2(ADA2):c.171G>A (p.Glu57=)
|
|
|
NM_001282225.2(ADA2):c.195G>A (p.Thr65=)
|
|
|
NM_001282225.2(ADA2):c.204C>T (p.Ile68=)
|
rs1469448141
|
|
NM_001282225.2(ADA2):c.246C>A (p.Pro82=)
|
|
|
NM_001282225.2(ADA2):c.270G>A (p.Lys90=)
|
|
|
NM_001282225.2(ADA2):c.27G>T (p.Arg9=)
|
|
|
NM_001282225.2(ADA2):c.300T>C (p.Asn100=)
|
rs776766882
|
|
NM_001282225.2(ADA2):c.309G>A (p.Arg103=)
|
rs2123715191
|
|
NM_001282225.2(ADA2):c.322+15G>A
|
|
|
NM_001282225.2(ADA2):c.322+9T>A
|
|
|
NM_001282225.2(ADA2):c.323-10C>T
|
rs1375971429
|
|
NM_001282225.2(ADA2):c.323-11T>C
|
|
|
NM_001282225.2(ADA2):c.323-13C>T
|
rs2062365658
|
|
NM_001282225.2(ADA2):c.323-19A>G
|
|
|
NM_001282225.2(ADA2):c.323-8C>T
|
|
|
NM_001282225.2(ADA2):c.339C>G (p.Leu113=)
|
|
|
NM_001282225.2(ADA2):c.390C>T (p.Tyr130=)
|
|
|
NM_001282225.2(ADA2):c.414C>T (p.Phe138=)
|
|
|
NM_001282225.2(ADA2):c.426G>A (p.Gly142=)
|
rs143138564
|
|
NM_001282225.2(ADA2):c.426G>T (p.Gly142=)
|
rs143138564
|
|
NM_001282225.2(ADA2):c.537T>C (p.Asp179=)
|
|
|
NM_001282225.2(ADA2):c.542+18A>T
|
rs757607364
|
|
NM_001282225.2(ADA2):c.542+7_542+12del
|
|
|
NM_001282225.2(ADA2):c.543-18A>G
|
|
|
NM_001282225.2(ADA2):c.549G>A (p.Leu183=)
|
rs1568984854
|
|
NM_001282225.2(ADA2):c.570C>A (p.Thr190=)
|
|
|
NM_001282225.2(ADA2):c.669G>A (p.Val223=)
|
|
|
NM_001282225.2(ADA2):c.753+13C>G
|
|
|
NM_001282225.2(ADA2):c.753+20C>T
|
|
|
NM_001282225.2(ADA2):c.754-20T>C
|
|
|
NM_001282225.2(ADA2):c.75C>G (p.Gly25=)
|
|
|
NM_001282225.2(ADA2):c.813A>G (p.Glu271=)
|
rs2123651534
|
|
NM_001282225.2(ADA2):c.816A>G (p.Val272=)
|
|
|
NM_001282225.2(ADA2):c.834A>G (p.Glu278=)
|
rs2123651432
|
|
NM_001282225.2(ADA2):c.837T>G (p.Thr279=)
|
rs2062117386
|
|
NM_001282225.2(ADA2):c.87C>T (p.Ser29=)
|
|
|
NM_001282225.2(ADA2):c.881+12T>C
|
|
|
NM_001282225.2(ADA2):c.881+16G>A
|
rs1275331603
|
|
NM_001282225.2(ADA2):c.881+7G>C
|
rs1601435948
|
|
NM_001282225.2(ADA2):c.882-13G>A
|
|
|
NM_001282225.2(ADA2):c.882-13G>C
|
|
|
NM_001282225.2(ADA2):c.882-13G>T
|
|
|
NM_001282225.2(ADA2):c.882-17C>T
|
|
|
NM_001282225.2(ADA2):c.882-18T>G
|
|
|
NM_001282225.2(ADA2):c.948C>T (p.Pro316=)
|
rs1601433341
|
|
NM_001282225.2(ADA2):c.951G>A (p.Thr317=)
|
|
|
NM_001282225.2(ADA2):c.970C>T (p.Leu324=)
|
rs2123643851
|
|
NM_001282225.2(ADA2):c.972+10G>T
|
|
|
NM_001282225.2(ADA2):c.972+7del
|
rs2123643808
|
|
NM_001282225.2(ADA2):c.972+8A>G
|
|
|
NM_001282225.2(ADA2):c.973-11C>G
|
|
|
NM_001282225.2(ADA2):c.973-15C>T
|
|
|
NM_001282225.2(ADA2):c.973-18T>C
|
rs2062066388
|
|
NM_001282225.2(ADA2):c.973-7C>T
|
|
|
NM_001282225.2(ADA2):c.975G>A (p.Val325=)
|
|
|
NM_001282225.2(ADA2):c.990T>C (p.Thr330=)
|
|
|
NM_001366385.1(CARD14):c.1530G>A (p.Pro510=)
|
rs376285944
|
|
NM_001366385.1(CARD14):c.2919C>G (p.Asp973Glu)
|
rs144285237
|
|
NM_001366385.1(CARD14):c.599G>T (p.Ser200Ile)
|
rs114688446
|
|
NM_001366385.1(CARD14):c.931C>A (p.Arg311=)
|
rs145167842
|
|
NM_001367624.2(ZNF469):c.10325G>C (p.Arg3442Thr)
|
rs199528724
|
|
NM_001367624.2(ZNF469):c.10328G>T (p.Gly3443Val)
|
rs140056980
|
|
NM_001367624.2(ZNF469):c.10599C>T (p.Pro3533=)
|
rs78022634
|
|
NM_001367624.2(ZNF469):c.11262C>T (p.Ser3754=)
|
rs769834740
|
|
NM_001367624.2(ZNF469):c.2666C>T (p.Ala889Val)
|
rs145186655
|
|
NM_001367624.2(ZNF469):c.3714C>T (p.Ser1238=)
|
rs572061351
|
|
NM_001367624.2(ZNF469):c.4529TGC[1] (p.Leu1511del)
|
rs555544144
|
|
NM_001367624.2(ZNF469):c.457C>G (p.Pro153Ala)
|
rs532620482
|
|
NM_001367624.2(ZNF469):c.6552G>T (p.Thr2184=)
|
rs12919507
|
|
NM_001367624.2(ZNF469):c.7635C>T (p.Asp2545=)
|
rs781553869
|
|
NM_001367624.2(ZNF469):c.8625_8627delinsACG (p.His2876Arg)
|
rs386794006
|
|
NM_001370259.2(MEN1):c.913-79T>A
|
|
|
NM_001370466.1(NOD2):c.-8-2158G>C
|
|
|
NM_001370466.1(NOD2):c.-8-2209G>A
|
|
|
NM_001370466.1(NOD2):c.-8-2215C>T
|
|
|
NM_001370466.1(NOD2):c.1035C>T (p.Asp345=)
|
|
|
NM_001370466.1(NOD2):c.1038T>C (p.Arg346=)
|
|
|
NM_001370466.1(NOD2):c.1050C>T (p.Thr350=)
|
rs750655947
|
|
NM_001370466.1(NOD2):c.1065C>T (p.Asp355=)
|
|
|
NM_001370466.1(NOD2):c.1071C>T (p.Phe357=)
|
|
|
NM_001370466.1(NOD2):c.1086G>C (p.Thr362=)
|
|
|
NM_001370466.1(NOD2):c.1107C>T (p.Ser369=)
|
|
|
NM_001370466.1(NOD2):c.1110G>C (p.Pro370=)
|
|
|
NM_001370466.1(NOD2):c.1185G>A (p.Val395=)
|
rs1344612505
|
|
NM_001370466.1(NOD2):c.1188G>A (p.Val396=)
|
rs77966199
|
|
NM_001370466.1(NOD2):c.1200G>C (p.Pro400=)
|
rs104895430
|
|
NM_001370466.1(NOD2):c.1212G>A (p.Ser404=)
|
|
|
NM_001370466.1(NOD2):c.1242G>A (p.Glu414=)
|
rs1224862712
|
|
NM_001370466.1(NOD2):c.1294C>T (p.Arg432Cys)
|
|
|
NM_001370466.1(NOD2):c.1308C>A (p.Pro436=)
|
|
|
NM_001370466.1(NOD2):c.1317G>A (p.Ala439=)
|
|
|
NM_001370466.1(NOD2):c.1335G>A (p.Leu445=)
|
|
|
NM_001370466.1(NOD2):c.1338C>T (p.Leu446=)
|
|
|
NM_001370466.1(NOD2):c.1356G>A (p.Leu452=)
|
|
|
NM_001370466.1(NOD2):c.1363T>C (p.Leu455=)
|
|
|
NM_001370466.1(NOD2):c.1368C>T (p.Cys456=)
|
rs1964487483
|
|
NM_001370466.1(NOD2):c.1462C>T (p.Leu488=)
|
rs1318205250
|
|
NM_001370466.1(NOD2):c.1497C>A (p.Thr499=)
|
|
|
NM_001370466.1(NOD2):c.1497C>G (p.Thr499=)
|
rs779950802
|
|
NM_001370466.1(NOD2):c.1497C>T (p.Thr499=)
|
|
|
NM_001370466.1(NOD2):c.1503A>G (p.Pro501=)
|
rs1964499560
|
|
NM_001370466.1(NOD2):c.1521T>C (p.Gly507=)
|
|
|
NM_001370466.1(NOD2):c.1541G>A (p.Arg514Gln)
|
rs753857915
|
|
NM_001370466.1(NOD2):c.1541G>C (p.Arg514Pro)
|
|
|
NM_001370466.1(NOD2):c.1560C>T (p.Leu520=)
|
|
|
NM_001370466.1(NOD2):c.1572C>T (p.Gly524=)
|
|
|
NM_001370466.1(NOD2):c.1581T>A (p.Ala527=)
|
|
|
NM_001370466.1(NOD2):c.159T>C (p.Pro53=)
|
|
|
NM_001370466.1(NOD2):c.162C>T (p.Leu54=)
|
rs1963835517
|
|
NM_001370466.1(NOD2):c.1650T>C (p.Pro550=)
|
|
|
NM_001370466.1(NOD2):c.165C>T (p.Ser55=)
|
|
|
NM_001370466.1(NOD2):c.1674G>A (p.Leu558=)
|
rs2150811924
|
|
NM_001370466.1(NOD2):c.168C>T (p.His56=)
|
rs1963835959
|
|
NM_001370466.1(NOD2):c.1728C>T (p.His576=)
|
|
|
NM_001370466.1(NOD2):c.1753G>A (p.Ala585Thr)
|
rs104895438
|
|
NM_001370466.1(NOD2):c.1753G>T (p.Ala585Ser)
|
rs104895438
|
|
NM_001370466.1(NOD2):c.1767A>T (p.Ala589=)
|
rs1463239348
|
|
NM_001370466.1(NOD2):c.1827C>T (p.Gly609=)
|
|
|
NM_001370466.1(NOD2):c.183T>C (p.Leu61=)
|
|
|
NM_001370466.1(NOD2):c.1857G>A (p.Thr619=)
|
rs762058298
|
|
NM_001370466.1(NOD2):c.1869G>A (p.Gln623=)
|
|
|
NM_001370466.1(NOD2):c.1893C>T (p.Ser631=)
|
|
|
NM_001370466.1(NOD2):c.1923G>T (p.Pro641=)
|
rs199475914
|
|
NM_001370466.1(NOD2):c.1951C>T (p.Leu651=)
|
rs2150813161
|
|
NM_001370466.1(NOD2):c.2019G>T (p.Leu673=)
|
|
|
NM_001370466.1(NOD2):c.2022C>T (p.Leu674=)
|
rs1459264285
|
|
NM_001370466.1(NOD2):c.2067C>T (p.Arg689=)
|
|
|
NM_001370466.1(NOD2):c.2100G>C (p.Pro700=)
|
|
|
NM_001370466.1(NOD2):c.2106G>A (p.Glu702=)
|
|
|
NM_001370466.1(NOD2):c.2112G>A (p.Lys704=)
|
rs2150813842
|
|
NM_001370466.1(NOD2):c.2115C>T (p.Ser705=)
|
|
|
NM_001370466.1(NOD2):c.2145C>T (p.Leu715=)
|
|
|
NM_001370466.1(NOD2):c.2163G>A (p.Glu721=)
|
|
|
NM_001370466.1(NOD2):c.216C>T (p.Ala72=)
|
rs1398956455
|
|
NM_001370466.1(NOD2):c.2178G>C (p.Arg726=)
|
rs2150814223
|
|
NM_001370466.1(NOD2):c.2217C>T (p.His739=)
|
rs767638398
|
|
NM_001370466.1(NOD2):c.2223G>A (p.Lys741=)
|
rs1596871165
|
|
NM_001370466.1(NOD2):c.222G>A (p.Gln74=)
|
|
|
NM_001370466.1(NOD2):c.2268C>T (p.Ala756=)
|
rs1596871480
|
|
NM_001370466.1(NOD2):c.2286C>G (p.Leu762=)
|
|
|
NM_001370466.1(NOD2):c.2334T>C (p.Ile778=)
|
rs1380472189
|
|
NM_001370466.1(NOD2):c.234G>C (p.Ala78=)
|
rs104895419
|
|
NM_001370466.1(NOD2):c.2381+12T>A
|
|
|
NM_001370466.1(NOD2):c.2388C>A (p.Arg796=)
|
rs757770726
|
|
NM_001370466.1(NOD2):c.2421G>A (p.Lys807=)
|
|
|
NM_001370466.1(NOD2):c.243A>G (p.Gln81=)
|
|
|
NM_001370466.1(NOD2):c.2460G>A (p.Lys820=)
|
|
|
NM_001370466.1(NOD2):c.2465+18G>A
|
|
|
NM_001370466.1(NOD2):c.2465+20G>A
|
|
|
NM_001370466.1(NOD2):c.2465+20G>T
|
rs540029486
|
|
NM_001370466.1(NOD2):c.2466-11G>A
|
|
|
NM_001370466.1(NOD2):c.2466-6G>A
|
|
|
NM_001370466.1(NOD2):c.2466-8C>A
|
|
|
NM_001370466.1(NOD2):c.2549+8C>T
|
|
|
NM_001370466.1(NOD2):c.255C>A (p.Ala85=)
|
rs770046355
|
|
NM_001370466.1(NOD2):c.255C>T (p.Ala85=)
|
rs770046355
|
|
NM_001370466.1(NOD2):c.2577G>A (p.Ala859=)
|
rs1417676866
|
|
NM_001370466.1(NOD2):c.2586A>C (p.Gln862His)
|
rs764244331
|
|
NM_001370466.1(NOD2):c.2595C>G (p.Ala865=)
|
rs375012324
|
|
NM_001370466.1(NOD2):c.2595C>T (p.Ala865=)
|
rs375012324
|
|
NM_001370466.1(NOD2):c.2633+12T>C
|
|
|
NM_001370466.1(NOD2):c.2633+17_2633+20del
|
|
|
NM_001370466.1(NOD2):c.2633+20G>A
|
|
|
NM_001370466.1(NOD2):c.2633+7T>C
|
|
|
NM_001370466.1(NOD2):c.2634-15T>C
|
|
|
NM_001370466.1(NOD2):c.2641G>C (p.Gly881Arg)
|
rs2066845
|
|
NM_001370466.1(NOD2):c.2649A>G (p.Arg883=)
|
|
|
NM_001370466.1(NOD2):c.2652G>A (p.Val884=)
|
rs1359941511
|
|
NM_001370466.1(NOD2):c.2676G>A (p.Leu892=)
|
|
|
NM_001370466.1(NOD2):c.2709G>A (p.Arg903=)
|
rs139886679
|
|
NM_001370466.1(NOD2):c.2717+18T>C
|
|
|
NM_001370466.1(NOD2):c.2718-11A>T
|
|
|
NM_001370466.1(NOD2):c.2718-13_2718-9del
|
|
|
NM_001370466.1(NOD2):c.2718-14A>G
|
|
|
NM_001370466.1(NOD2):c.2767A>G (p.Met923Val)
|
rs527892258
|
|
NM_001370466.1(NOD2):c.2770C>T (p.Leu924=)
|
|
|
NM_001370466.1(NOD2):c.2801+17C>A
|
rs1193867802
|
|
NM_001370466.1(NOD2):c.2801+19C>T
|
|
|
NM_001370466.1(NOD2):c.2801+9G>T
|
|
|
NM_001370466.1(NOD2):c.2802-16C>T
|
|
|
NM_001370466.1(NOD2):c.2802-8C>G
|
|
|
NM_001370466.1(NOD2):c.2802-9T>A
|
rs750873269
|
|
NM_001370466.1(NOD2):c.282C>A (p.Gly94=)
|
|
|
NM_001370466.1(NOD2):c.2856G>A (p.Leu952=)
|
|
|
NM_001370466.1(NOD2):c.2859G>A (p.Lys953=)
|
|
|
NM_001370466.1(NOD2):c.2881C>T (p.Leu961=)
|
rs1596908135
|
|
NM_001370466.1(NOD2):c.2885+10C>G
|
|
|
NM_001370466.1(NOD2):c.2885+19G>A
|
|
|
NM_001370466.1(NOD2):c.2886-12C>T
|
|
|
NM_001370466.1(NOD2):c.2886-17T>C
|
rs757094587
|
|
NM_001370466.1(NOD2):c.294C>G (p.Pro98=)
|
|
|
NM_001370466.1(NOD2):c.2959C>T (p.Leu987=)
|
|
|
NM_001370466.1(NOD2):c.2969+13G>A
|
|
|
NM_001370466.1(NOD2):c.2969+14G>A
|
rs2150843410
|
|
NM_001370466.1(NOD2):c.2969+15C>A
|
|
|
NM_001370466.1(NOD2):c.2985T>C (p.Thr995=)
|
|
|
NM_001370466.1(NOD2):c.300G>T (p.Ser100=)
|
|
|
NM_001370466.1(NOD2):c.309A>G (p.Pro103=)
|
rs2150782456
|
|
NM_001370466.1(NOD2):c.357C>T (p.His119=)
|
|
|
NM_001370466.1(NOD2):c.383T>A (p.Leu128Gln)
|
|
|
NM_001370466.1(NOD2):c.399T>A (p.Gly133=)
|
|
|
NM_001370466.1(NOD2):c.39G>A (p.Gln13=)
|
|
|
NM_001370466.1(NOD2):c.444C>T (p.Phe148=)
|
|
|
NM_001370466.1(NOD2):c.459+17G>A
|
rs761704372
|
|
NM_001370466.1(NOD2):c.459+17G>C
|
|
|
NM_001370466.1(NOD2):c.477T>C (p.Asp159=)
|
rs1964270177
|
|
NM_001370466.1(NOD2):c.525T>C (p.His175=)
|
|
|
NM_001370466.1(NOD2):c.54G>A (p.Leu18=)
|
|
|
NM_001370466.1(NOD2):c.553C>T (p.Leu185=)
|
rs760629717
|
|
NM_001370466.1(NOD2):c.561G>A (p.Leu187=)
|
|
|
NM_001370466.1(NOD2):c.565+18G>A
|
|
|
NM_001370466.1(NOD2):c.565+7G>A
|
|
|
NM_001370466.1(NOD2):c.573A>T (p.Thr191=)
|
rs778455499
|
|
NM_001370466.1(NOD2):c.678A>G (p.Thr226=)
|
|
|
NM_001370466.1(NOD2):c.726G>C (p.Pro242=)
|
rs369766454
|
|
NM_001370466.1(NOD2):c.732G>A (p.Lys244=)
|
|
|
NM_001370466.1(NOD2):c.765C>T (p.Phe255=)
|
|
|
NM_001370466.1(NOD2):c.795G>A (p.Ala265=)
|
|
|
NM_001370466.1(NOD2):c.807G>C (p.Leu269=)
|
|
|
NM_001370466.1(NOD2):c.807G>T (p.Leu269=)
|
rs375002962
|
|
NM_001370466.1(NOD2):c.822G>A (p.Ala274=)
|
|
|
NM_001370466.1(NOD2):c.834G>A (p.Lys278=)
|
|
|
NM_001370466.1(NOD2):c.873A>C (p.Ala291=)
|
rs199951979
|
|
NM_001370466.1(NOD2):c.882C>T (p.Asp294=)
|
|
|
NM_001370466.1(NOD2):c.891A>G (p.Glu297=)
|
|
|
NM_001370466.1(NOD2):c.903C>T (p.Val301=)
|
|
|
NM_001370466.1(NOD2):c.909A>G (p.Pro303=)
|
|
|
NM_001370466.1(NOD2):c.948C>G (p.Leu316=)
|
|
|
NM_001370466.1(NOD2):c.963A>G (p.Leu321=)
|
rs2150808670
|
|
NM_001370466.1(NOD2):c.9G>A (p.Ser3=)
|
rs774491311
|
|
NM_001370466.1(NOD2):c.9G>T (p.Ser3=)
|
rs774491311
|
|
NM_001375808.2(LPIN2):c.*1179G>A
|
rs147362027
|
|
NM_001375808.2(LPIN2):c.*2197_*2198del
|
rs55834965
|
|
NM_001375808.2(LPIN2):c.*2924del
|
rs148191039
|
|
NM_001375808.2(LPIN2):c.1017A>G (p.Pro339=)
|
rs2144195604
|
|
NM_001375808.2(LPIN2):c.1026G>A (p.Val342=)
|
rs1232642116
|
|
NM_001375808.2(LPIN2):c.1026G>T (p.Val342=)
|
rs1232642116
|
|
NM_001375808.2(LPIN2):c.1038C>T (p.Leu346=)
|
|
|
NM_001375808.2(LPIN2):c.1062G>A (p.Gln354=)
|
|
|
NM_001375808.2(LPIN2):c.108A>G (p.Val36=)
|
|
|
NM_001375808.2(LPIN2):c.1098C>T (p.Asn366=)
|
|
|
NM_001375808.2(LPIN2):c.1110G>A (p.Ala370=)
|
|
|
NM_001375808.2(LPIN2):c.1116G>A (p.Ala372=)
|
rs773325510
|
|
NM_001375808.2(LPIN2):c.1116G>C (p.Ala372=)
|
|
|
NM_001375808.2(LPIN2):c.114G>A (p.Gln38=)
|
rs2143202505
|
|
NM_001375808.2(LPIN2):c.1168+10del
|
|
|
NM_001375808.2(LPIN2):c.1168+14T>C
|
|
|
NM_001375808.2(LPIN2):c.1169-20C>G
|
|
|
NM_001375808.2(LPIN2):c.1169-4del
|
|
|
NM_001375808.2(LPIN2):c.1169-7T>G
|
|
|
NM_001375808.2(LPIN2):c.1169-7del
|
rs746626720
|
|
NM_001375808.2(LPIN2):c.1169-7dup
|
rs746626720
|
|
NM_001375808.2(LPIN2):c.1169-8T>C
|
rs2144178133
|
|
NM_001375808.2(LPIN2):c.1185C>T (p.Ser395=)
|
rs2077256730
|
|
NM_001375808.2(LPIN2):c.1254T>C (p.Leu418=)
|
|
|
NM_001375808.2(LPIN2):c.1268+11C>T
|
|
|
NM_001375808.2(LPIN2):c.1268+16T>C
|
|
|
NM_001375808.2(LPIN2):c.1268+9G>A
|
rs1183619133
|
|
NM_001375808.2(LPIN2):c.1269-18C>G
|
|
|
NM_001375808.2(LPIN2):c.126C>T (p.Ser42=)
|
rs2143202348
|
|
NM_001375808.2(LPIN2):c.1299C>A (p.Pro433=)
|
rs781673368
|
|
NM_001375808.2(LPIN2):c.1314C>G (p.Leu438=)
|
|
|
NM_001375808.2(LPIN2):c.1320C>G (p.Gly440=)
|
|
|
NM_001375808.2(LPIN2):c.1323C>G (p.Ser441=)
|
|
|
NM_001375808.2(LPIN2):c.1356A>G (p.Ala452=)
|
rs2144161943
|
|
NM_001375808.2(LPIN2):c.1410C>G (p.Thr470=)
|
rs35932462
|
|
NM_001375808.2(LPIN2):c.1422C>T (p.Cys474=)
|
|
|
NM_001375808.2(LPIN2):c.1457-10T>C
|
rs762492589
|
|
NM_001375808.2(LPIN2):c.1457-20ATT[2]
|
|
|
NM_001375808.2(LPIN2):c.1457-21_1457-18del
|
|
|
NM_001375808.2(LPIN2):c.1485T>C (p.Tyr495=)
|
|
|
NM_001375808.2(LPIN2):c.1497A>G (p.Ala499=)
|
|
|
NM_001375808.2(LPIN2):c.1506T>A (p.Pro502=)
|
|
|
NM_001375808.2(LPIN2):c.1524T>C (p.Pro508=)
|
rs2144150762
|
|
NM_001375808.2(LPIN2):c.1527C>T (p.Asn509=)
|
rs2144150748
|
|
NM_001375808.2(LPIN2):c.1550+11C>G
|
|
|
NM_001375808.2(LPIN2):c.1550+14C>G
|
|
|
NM_001375808.2(LPIN2):c.1550+8C>T
|
|
|
NM_001375808.2(LPIN2):c.1551-5C>G
|
|
|
NM_001375808.2(LPIN2):c.1591T>C (p.Leu531=)
|
|
|
NM_001375808.2(LPIN2):c.1620+8G>A
|
|
|
NM_001375808.2(LPIN2):c.1620+8G>C
|
rs751918963
|
|
NM_001375808.2(LPIN2):c.1621-15G>A
|
|
|
NM_001375808.2(LPIN2):c.1621-16G>A
|
|
|
NM_001375808.2(LPIN2):c.1621-5_1621-4insCAC
|
rs2144144869
|
|
NM_001375808.2(LPIN2):c.1621-9T>G
|
|
|
NM_001375808.2(LPIN2):c.1710+15G>C
|
|
|
NM_001375808.2(LPIN2):c.1710+16G>A
|
rs2077155215
|
|
NM_001375808.2(LPIN2):c.1710+19A>G
|
|
|
NM_001375808.2(LPIN2):c.1710+7G>A
|
rs1345198380
|
|
NM_001375808.2(LPIN2):c.1710+7G>C
|
|
|
NM_001375808.2(LPIN2):c.1710+8A>T
|
|
|
NM_001375808.2(LPIN2):c.1711-15A>C
|
|
|
NM_001375808.2(LPIN2):c.1711-16C>T
|
|
|
NM_001375808.2(LPIN2):c.1716A>G (p.Pro572=)
|
rs2077138820
|
|
NM_001375808.2(LPIN2):c.1758C>T (p.Asp586=)
|
rs2144139743
|
|
NM_001375808.2(LPIN2):c.1767C>A (p.Ser589=)
|
|
|
NM_001375808.2(LPIN2):c.1793+15C>T
|
|
|
NM_001375808.2(LPIN2):c.1794-11A>T
|
rs1287905667
|
|
NM_001375808.2(LPIN2):c.1794-12A>C
|
|
|
NM_001375808.2(LPIN2):c.1794-5A>T
|
rs2144133645
|
|
NM_001375808.2(LPIN2):c.1794-9G>A
|
rs587781026
|
|
NM_001375808.2(LPIN2):c.1902A>G (p.Ser634=)
|
rs1171969014
|
|
NM_001375808.2(LPIN2):c.192+10C>G
|
rs1568574874
|
|
NM_001375808.2(LPIN2):c.193-14T>G
|
|
|
NM_001375808.2(LPIN2):c.193-14dup
|
|
|
NM_001375808.2(LPIN2):c.193-9C>A
|
|
|
NM_001375808.2(LPIN2):c.1938+15A>G
|
|
|
NM_001375808.2(LPIN2):c.1938+17_1938+18del
|
|
|
NM_001375808.2(LPIN2):c.1939-15dup
|
|
|
NM_001375808.2(LPIN2):c.1939-19T>G
|
|
|
NM_001375808.2(LPIN2):c.1939-2del
|
rs745529823
|
|
NM_001375808.2(LPIN2):c.1939-5A>G
|
rs779830291
|
|
NM_001375808.2(LPIN2):c.1953C>G (p.Leu651=)
|
rs2144129579
|
|
NM_001375808.2(LPIN2):c.1962C>T (p.Gly654=)
|
|
|
NM_001375808.2(LPIN2):c.1986T>C (p.Ile662=)
|
|
|
NM_001375808.2(LPIN2):c.2007C>T (p.Thr669=)
|
rs761000111
|
|
NM_001375808.2(LPIN2):c.2013C>T (p.Arg671=)
|
|
|
NM_001375808.2(LPIN2):c.2031C>T (p.Tyr677=)
|
rs2144129211
|
|
NM_001375808.2(LPIN2):c.2034G>C (p.Leu678=)
|
rs749526038
|
|
NM_001375808.2(LPIN2):c.2055C>T (p.Ile685=)
|
|
|
NM_001375808.2(LPIN2):c.2076G>C (p.Gly692=)
|
rs781016213
|
|
NM_001375808.2(LPIN2):c.2087+9A>G
|
rs1598522453
|
|
NM_001375808.2(LPIN2):c.2088-10dup
|
|
|
NM_001375808.2(LPIN2):c.2088-13A>G
|
|
|
NM_001375808.2(LPIN2):c.2088-8C>A
|
|
|
NM_001375808.2(LPIN2):c.2088-9T>C
|
|
|
NM_001375808.2(LPIN2):c.2098T>C (p.Leu700=)
|
|
|
NM_001375808.2(LPIN2):c.2103A>G (p.Gly701=)
|
|
|
NM_001375808.2(LPIN2):c.2119C>T (p.Leu707=)
|
rs2144126370
|
|
NM_001375808.2(LPIN2):c.2174+11T>A
|
rs902479283
|
|
NM_001375808.2(LPIN2):c.2174+12C>T
|
|
|
NM_001375808.2(LPIN2):c.2174+14C>T
|
|
|
NM_001375808.2(LPIN2):c.2174+8C>T
|
rs2144126085
|
|
NM_001375808.2(LPIN2):c.2175-12G>C
|
|
|
NM_001375808.2(LPIN2):c.2175-14G>T
|
rs374483994
|
|
NM_001375808.2(LPIN2):c.2175-7C>T
|
|
|
NM_001375808.2(LPIN2):c.2181C>G (p.Gly727=)
|
|
|
NM_001375808.2(LPIN2):c.2184C>T (p.Tyr728=)
|
|
|
NM_001375808.2(LPIN2):c.2196C>T (p.Tyr732=)
|
|
|
NM_001375808.2(LPIN2):c.2211C>T (p.Ala737=)
|
rs886053765
|
|
NM_001375808.2(LPIN2):c.2217C>T (p.Gly739=)
|
|
|
NM_001375808.2(LPIN2):c.2268A>G (p.Thr756=)
|
|
|
NM_001375808.2(LPIN2):c.2283C>A (p.Gly761=)
|
|
|
NM_001375808.2(LPIN2):c.2287C>T (p.Leu763=)
|
rs745533997
|
|
NM_001375808.2(LPIN2):c.2313C>T (p.Phe771=)
|
|
|
NM_001375808.2(LPIN2):c.2316C>A (p.Ser772=)
|
rs145270447
|
|
NM_001375808.2(LPIN2):c.2327+9C>A
|
rs536913334
|
|
NM_001375808.2(LPIN2):c.2327+9C>T
|
rs536913334
|
|
NM_001375808.2(LPIN2):c.2328-15_2328-10del
|
rs770202563
|
|
NM_001375808.2(LPIN2):c.2328-6T>A
|
|
|
NM_001375808.2(LPIN2):c.2340A>G (p.Glu780=)
|
|
|
NM_001375808.2(LPIN2):c.2400G>A (p.Pro800=)
|
rs747097533
|
|
NM_001375808.2(LPIN2):c.2415C>T (p.Phe805=)
|
|
|
NM_001375808.2(LPIN2):c.2442+12C>T
|
|
|
NM_001375808.2(LPIN2):c.2442+19C>G
|
|
|
NM_001375808.2(LPIN2):c.2442+8T>C
|
rs2144115979
|
|
NM_001375808.2(LPIN2):c.2475A>G (p.Pro825=)
|
|
|
NM_001375808.2(LPIN2):c.249C>T (p.Asn83=)
|
|
|
NM_001375808.2(LPIN2):c.2529C>T (p.Thr843=)
|
|
|
NM_001375808.2(LPIN2):c.2546+10T>A
|
rs2144112120
|
|
NM_001375808.2(LPIN2):c.2546+13T>C
|
|
|
NM_001375808.2(LPIN2):c.2546+14C>T
|
|
|
NM_001375808.2(LPIN2):c.2546+16G>C
|
|
|
NM_001375808.2(LPIN2):c.2547-15C>T
|
|
|
NM_001375808.2(LPIN2):c.2547-16C>T
|
|
|
NM_001375808.2(LPIN2):c.2547-5_2547-4del
|
|
|
NM_001375808.2(LPIN2):c.2595T>C (p.Ser865=)
|
|
|
NM_001375808.2(LPIN2):c.2598G>A (p.Lys866=)
|
|
|
NM_001375808.2(LPIN2):c.261C>T (p.Phe87=)
|
rs2077581512
|
|
NM_001375808.2(LPIN2):c.2621G>T (p.Cys874Phe)
|
rs201160155
|
|
NM_001375808.2(LPIN2):c.2640C>T (p.Phe880=)
|
rs754603570
|
|
NM_001375808.2(LPIN2):c.2667A>G (p.Glu889=)
|
|
|
NM_001375808.2(LPIN2):c.2682C>T (p.Asp894=)
|
|
|
NM_001375808.2(LPIN2):c.288+10C>T
|
rs766750528
|
|
NM_001375808.2(LPIN2):c.288+13G>C
|
rs2143137276
|
|
NM_001375808.2(LPIN2):c.288+19C>T
|
|
|
NM_001375808.2(LPIN2):c.289-18T>C
|
|
|
NM_001375808.2(LPIN2):c.289-20C>T
|
|
|
NM_001375808.2(LPIN2):c.289-6C>T
|
|
|
NM_001375808.2(LPIN2):c.289-6_289-4del
|
|
|
NM_001375808.2(LPIN2):c.330T>C (p.Thr110=)
|
|
|
NM_001375808.2(LPIN2):c.375G>T (p.Ser125=)
|
rs752271556
|
|
NM_001375808.2(LPIN2):c.393A>G (p.Pro131=)
|
|
|
NM_001375808.2(LPIN2):c.402T>C (p.Ser134=)
|
|
|
NM_001375808.2(LPIN2):c.411C>T (p.Ile137=)
|
|
|
NM_001375808.2(LPIN2):c.422T>C (p.Leu141Ser)
|
rs763550824
|
|
NM_001375808.2(LPIN2):c.432G>A (p.Glu144=)
|
rs2143107238
|
|
NM_001375808.2(LPIN2):c.435A>G (p.Thr145=)
|
rs867742294
|
|
NM_001375808.2(LPIN2):c.510G>A (p.Glu170=)
|
|
|
NM_001375808.2(LPIN2):c.540A>G (p.Thr180=)
|
rs151135579
|
|
NM_001375808.2(LPIN2):c.582G>A (p.Gln194=)
|
rs1555677025
|
|
NM_001375808.2(LPIN2):c.590+11C>T
|
rs2143104651
|
|
NM_001375808.2(LPIN2):c.590+7C>T
|
|
|
NM_001375808.2(LPIN2):c.590+8TC[3]
|
rs769949222
|
|
NM_001375808.2(LPIN2):c.590+9C>A
|
rs773442071
|
|
NM_001375808.2(LPIN2):c.590+9C>G
|
rs773442071
|
|
NM_001375808.2(LPIN2):c.591-11C>T
|
|
|
NM_001375808.2(LPIN2):c.609C>T (p.Ser203=)
|
|
|
NM_001375808.2(LPIN2):c.60G>A (p.Lys20=)
|
|
|
NM_001375808.2(LPIN2):c.675T>C (p.Asp225=)
|
rs2144209692
|
|
NM_001375808.2(LPIN2):c.696G>A (p.Glu232=)
|
|
|
NM_001375808.2(LPIN2):c.698+13G>T
|
|
|
NM_001375808.2(LPIN2):c.698+14A>G
|
|
|
NM_001375808.2(LPIN2):c.698+20_698+22del
|
rs778249776
|
|
NM_001375808.2(LPIN2):c.699-19_699-16del
|
rs760882217
|
|
NM_001375808.2(LPIN2):c.702C>T (p.Thr234=)
|
rs2144204821
|
|
NM_001375808.2(LPIN2):c.711G>A (p.Gln237=)
|
|
|
NM_001375808.2(LPIN2):c.753T>G (p.Pro251=)
|
|
|
NM_001375808.2(LPIN2):c.807C>T (p.Phe269=)
|
|
|
NM_001375808.2(LPIN2):c.822+18C>T
|
|
|
NM_001375808.2(LPIN2):c.840A>G (p.Arg280=)
|
rs780138552
|
|
NM_001375808.2(LPIN2):c.84T>C (p.Ser28=)
|
|
|
NM_001375808.2(LPIN2):c.897G>C (p.Arg299=)
|
|
|
NM_001375808.2(LPIN2):c.99C>A (p.Val33=)
|
|
|
NM_001375808.2(LPIN2):c.99C>T (p.Val33=)
|
|
|
NM_001375808.2(LPIN2):c.9T>C (p.Tyr3=)
|
|
|
NM_001457.4(FLNB):c.107G>A (p.Arg36His)
|
rs142568031
|
|
NM_001558.4(IL10RA):c.1038A>G (p.Arg346=)
|
rs2134995931
|
|
NM_001558.4(IL10RA):c.1047A>C (p.Gly349=)
|
|
|
NM_001558.4(IL10RA):c.1050_1051inv (p.Arg351Gly)
|
|
|
NM_001558.4(IL10RA):c.1095C>T (p.Ser365=)
|
|
|
NM_001558.4(IL10RA):c.1110C>T (p.Ser370=)
|
|
|
NM_001558.4(IL10RA):c.1113G>A (p.Gly371=)
|
|
|
NM_001558.4(IL10RA):c.1149A>G (p.Thr383=)
|
|
|
NM_001558.4(IL10RA):c.1158C>T (p.Thr386=)
|
rs4252290
|
|
NM_001558.4(IL10RA):c.1173G>A (p.Val391=)
|
|
|
NM_001558.4(IL10RA):c.1203T>C (p.Ser401=)
|
rs2134996364
|
|
NM_001558.4(IL10RA):c.120C>T (p.His40=)
|
rs2134981676
|
|
NM_001558.4(IL10RA):c.1239T>A (p.Ala413=)
|
|
|
NM_001558.4(IL10RA):c.1248A>G (p.Thr416=)
|
|
|
NM_001558.4(IL10RA):c.126C>T (p.Ile42=)
|
rs570833435
|
|
NM_001558.4(IL10RA):c.1272C>T (p.His424=)
|
|
|
NM_001558.4(IL10RA):c.1296G>A (p.Val432=)
|
|
|
NM_001558.4(IL10RA):c.132C>T (p.His44=)
|
|
|
NM_001558.4(IL10RA):c.1338C>T (p.Tyr446=)
|
|
|
NM_001558.4(IL10RA):c.138A>G (p.Thr46=)
|
rs762792922
|
|
NM_001558.4(IL10RA):c.1392G>A (p.Glu464=)
|
rs2134996842
|
|
NM_001558.4(IL10RA):c.1404C>T (p.Pro468=)
|
|
|
NM_001558.4(IL10RA):c.1431C>T (p.Phe477=)
|
|
|
NM_001558.4(IL10RA):c.1446T>G (p.Val482=)
|
|
|
NM_001558.4(IL10RA):c.1482G>A (p.Lys494=)
|
rs2134997097
|
|
NM_001558.4(IL10RA):c.1551C>T (p.Asn517=)
|
|
|
NM_001558.4(IL10RA):c.1620C>T (p.Ser540=)
|
rs762798330
|
|
NM_001558.4(IL10RA):c.1635T>G (p.Leu545=)
|
|
|
NM_001558.4(IL10RA):c.1671C>A (p.Leu557=)
|
|
|
NM_001558.4(IL10RA):c.1695G>T (p.Leu565=)
|
rs2058080573
|
|
NM_001558.4(IL10RA):c.1704G>A (p.Leu568=)
|
rs370596512
|
|
NM_001558.4(IL10RA):c.1716T>C (p.Ser572=)
|
rs1256548482
|
|
NM_001558.4(IL10RA):c.1722G>T (p.Leu574=)
|
rs747902722
|
|
NM_001558.4(IL10RA):c.1734G>A (p.Glu578=)
|
|
|
NM_001558.4(IL10RA):c.177G>A (p.Val59=)
|
|
|
NM_001558.4(IL10RA):c.188+14A>G
|
|
|
NM_001558.4(IL10RA):c.188+18G>A
|
|
|
NM_001558.4(IL10RA):c.189-12G>C
|
|
|
NM_001558.4(IL10RA):c.21G>A (p.Val7=)
|
rs4252301
|
|
NM_001558.4(IL10RA):c.237G>C (p.Leu79=)
|
|
|
NM_001558.4(IL10RA):c.262T>C (p.Leu88=)
|
|
|
NM_001558.4(IL10RA):c.300G>A (p.Val100=)
|
|
|
NM_001558.4(IL10RA):c.301C>A (p.Arg101=)
|
rs368287711
|
|
NM_001558.4(IL10RA):c.30G>A (p.Ala10=)
|
|
|
NM_001558.4(IL10RA):c.318C>T (p.Ser106=)
|
|
|
NM_001558.4(IL10RA):c.336C>G (p.Thr112=)
|
rs192749274
|
|
NM_001558.4(IL10RA):c.367+10C>T
|
|
|
NM_001558.4(IL10RA):c.367+10del
|
rs780135356
|
|
NM_001558.4(IL10RA):c.367+12C>G
|
|
|
NM_001558.4(IL10RA):c.368-18C>T
|
|
|
NM_001558.4(IL10RA):c.368-20C>A
|
rs759939442
|
|
NM_001558.4(IL10RA):c.368-20C>G
|
|
|
NM_001558.4(IL10RA):c.368-20C>T
|
rs759939442
|
|
NM_001558.4(IL10RA):c.423G>A (p.Gly141=)
|
rs776720010
|
|
NM_001558.4(IL10RA):c.456C>T (p.Pro152=)
|
|
|
NM_001558.4(IL10RA):c.537+12C>T
|
|
|
NM_001558.4(IL10RA):c.537+13C>G
|
|
|
NM_001558.4(IL10RA):c.537+17G>T
|
rs2134988477
|
|
NM_001558.4(IL10RA):c.537+18G>T
|
|
|
NM_001558.4(IL10RA):c.537+20C>G
|
|
|
NM_001558.4(IL10RA):c.537+7_537+10dup
|
rs2134988455
|
|
NM_001558.4(IL10RA):c.538-10T>G
|
rs937671249
|
|
NM_001558.4(IL10RA):c.538-20T>C
|
|
|
NM_001558.4(IL10RA):c.555A>G (p.Val185=)
|
|
|
NM_001558.4(IL10RA):c.582C>G (p.Thr194=)
|
|
|
NM_001558.4(IL10RA):c.594G>A (p.Val198=)
|
|
|
NM_001558.4(IL10RA):c.627C>A (p.Val209=)
|
|
|
NM_001558.4(IL10RA):c.627C>T (p.Val209=)
|
|
|
NM_001558.4(IL10RA):c.660A>G (p.Lys220=)
|
|
|
NM_001558.4(IL10RA):c.67+11G>A
|
rs376956484
|
|
NM_001558.4(IL10RA):c.67+13G>A
|
rs886047707
|
|
NM_001558.4(IL10RA):c.67+20C>T
|
rs948545727
|
|
NM_001558.4(IL10RA):c.68-6C>T
|
|
|
NM_001558.4(IL10RA):c.684G>A (p.Arg228=)
|
rs2134989421
|
|
NM_001558.4(IL10RA):c.688+17G>A
|
rs765275998
|
|
NM_001558.4(IL10RA):c.689-14C>T
|
|
|
NM_001558.4(IL10RA):c.689-8G>A
|
|
|
NM_001558.4(IL10RA):c.689-8G>T
|
|
|
NM_001558.4(IL10RA):c.717C>T (p.Phe239=)
|
|
|
NM_001558.4(IL10RA):c.750C>T (p.Leu250=)
|
rs267602711
|
|
NM_001558.4(IL10RA):c.789A>G (p.Arg263=)
|
rs1591264676
|
|
NM_001558.4(IL10RA):c.792G>A (p.Lys264=)
|
rs2134991705
|
|
NM_001558.4(IL10RA):c.798A>G (p.Leu266=)
|
rs2134991714
|
|
NM_001558.4(IL10RA):c.810+19_810+24del
|
|
|
NM_001558.4(IL10RA):c.811-11C>G
|
|
|
NM_001558.4(IL10RA):c.811-15C>T
|
|
|
NM_001558.4(IL10RA):c.813C>G (p.Leu271=)
|
rs765687193
|
|
NM_001558.4(IL10RA):c.81C>G (p.Pro27=)
|
|
|
NM_001558.4(IL10RA):c.861A>G (p.Pro287=)
|
|
|
NM_001558.4(IL10RA):c.87T>C (p.Pro29=)
|
|
|
NM_001558.4(IL10RA):c.927G>A (p.Lys309=)
|
|
|
NM_001558.4(IL10RA):c.936C>T (p.Asp312=)
|
|
|
NM_001558.4(IL10RA):c.93T>C (p.Ser31=)
|
rs2134981627
|
|
NM_001558.4(IL10RA):c.942C>T (p.His314=)
|
rs763364696
|
|
NM_001558.4(IL10RA):c.972C>G (p.Thr324=)
|
rs2229115
|
|
NM_001611.5(ACP5):c.132G>C (p.Thr44=)
|
|
|
NM_001611.5(ACP5):c.15G>A (p.Thr5=)
|
rs772911511
|
|
NM_001611.5(ACP5):c.18G>A (p.Ala6=)
|
|
|
NM_001611.5(ACP5):c.261+13C>T
|
|
|
NM_001611.5(ACP5):c.261+14A>T
|
|
|
NM_001611.5(ACP5):c.262-13_262-12del
|
|
|
NM_001611.5(ACP5):c.28C>T (p.Leu10=)
|
|
|
NM_001611.5(ACP5):c.309C>T (p.Pro103=)
|
|
|
NM_001611.5(ACP5):c.324C>T (p.Ala108=)
|
|
|
NM_001611.5(ACP5):c.330C>T (p.Asn110=)
|
rs2145090965
|
|
NM_001611.5(ACP5):c.333T>C (p.His111=)
|
|
|
NM_001611.5(ACP5):c.351C>A (p.Val117=)
|
|
|
NM_001611.5(ACP5):c.351C>T (p.Val117=)
|
rs2145090791
|
|
NM_001611.5(ACP5):c.354T>C (p.Ser118=)
|
rs1337015672
|
|
NM_001611.5(ACP5):c.366A>C (p.Ala122=)
|
|
|
NM_001611.5(ACP5):c.381C>T (p.Ser127=)
|
rs2145090669
|
|
NM_001611.5(ACP5):c.389+13C>T
|
|
|
NM_001611.5(ACP5):c.389+17C>T
|
|
|
NM_001611.5(ACP5):c.389+9C>T
|
|
|
NM_001611.5(ACP5):c.390-11C>T
|
rs182019242
|
|
NM_001611.5(ACP5):c.390-17C>T
|
|
|
NM_001611.5(ACP5):c.39G>A (p.Leu13=)
|
|
|
NM_001611.5(ACP5):c.417G>A (p.Leu139=)
|
rs2145089622
|
|
NM_001611.5(ACP5):c.420C>T (p.His140=)
|
rs1281816540
|
|
NM_001611.5(ACP5):c.438C>T (p.Thr146=)
|
rs2145089524
|
|
NM_001611.5(ACP5):c.459T>C (p.Phe153=)
|
|
|
NM_001611.5(ACP5):c.510G>A (p.Gln170=)
|
|
|
NM_001611.5(ACP5):c.516T>A (p.Pro172=)
|
rs887425978
|
|
NM_001611.5(ACP5):c.51C>A (p.Ser17=)
|
|
|
NM_001611.5(ACP5):c.531C>T (p.Asp177=)
|
|
|
NM_001611.5(ACP5):c.543C>A (p.Ala181=)
|
rs139822120
|
|
NM_001611.5(ACP5):c.585C>G (p.Ala195=)
|
rs766688951
|
|
NM_001611.5(ACP5):c.60T>C (p.Asp20=)
|
|
|
NM_001611.5(ACP5):c.612C>A (p.Gly204=)
|
|
|
NM_001611.5(ACP5):c.651C>A (p.Thr217=)
|
|
|
NM_001611.5(ACP5):c.658C>T (p.Leu220=)
|
|
|
NM_001611.5(ACP5):c.660G>C (p.Leu220=)
|
rs1433238601
|
|
NM_001611.5(ACP5):c.663C>G (p.Val221=)
|
rs2145088053
|
|
NM_001611.5(ACP5):c.670C>T (p.Leu224=)
|
|
|
NM_001611.5(ACP5):c.678A>C (p.Pro226=)
|
rs1257952148
|
|
NM_001611.5(ACP5):c.69C>T (p.Thr23=)
|
|
|
NM_001611.5(ACP5):c.702T>G (p.Thr234=)
|
|
|
NM_001611.5(ACP5):c.730C>T (p.Leu244=)
|
|
|
NM_001611.5(ACP5):c.735+10del
|
|
|
NM_001611.5(ACP5):c.735+13T>A
|
|
|
NM_001611.5(ACP5):c.735+14G>A
|
|
|
NM_001611.5(ACP5):c.735+15G>C
|
|
|
NM_001611.5(ACP5):c.735+8C>A
|
|
|
NM_001611.5(ACP5):c.735+8C>T
|
rs781252304
|
|
NM_001611.5(ACP5):c.736-6C>T
|
|
|
NM_001611.5(ACP5):c.738C>T (p.Tyr246=)
|
|
|
NM_001611.5(ACP5):c.759G>A (p.Val253=)
|
|
|
NM_001611.5(ACP5):c.780T>C (p.Ala260=)
|
rs2145082207
|
|
NM_001611.5(ACP5):c.807G>A (p.Arg269=)
|
|
|
NM_001611.5(ACP5):c.822C>G (p.Val274=)
|
|
|
NM_001611.5(ACP5):c.825C>A (p.Pro275=)
|
rs760569679
|
|
NM_001611.5(ACP5):c.870T>C (p.Gly290=)
|
|
|
NM_001611.5(ACP5):c.909T>C (p.Thr303=)
|
rs2145081214
|
|
NM_001611.5(ACP5):c.90C>T (p.Ala30=)
|
|
|
NM_001611.5(ACP5):c.930G>A (p.Ser310=)
|
|
|
NM_001611.5(ACP5):c.954G>A (p.Arg318=)
|
|
|
NM_001611.5(ACP5):c.960G>A (p.Pro320=)
|
|
|
NM_001611.5(ACP5):c.963G>A (p.Arg321=)
|
rs2145080770
|
|
NM_001613.4(ACTA2):c.370-19del
|
rs1554841385
|
|
NM_001613.4(ACTA2):c.612T>C (p.Thr204=)
|
rs1554841258
|
|
NM_001715.3(BLK):c.1021T>G (p.Ser341Ala)
|
rs567720261
|
|
NM_001754.5(RUNX1):c.1272G>C (p.Ser424=)
|
rs1459260782
|
|
NM_001844.5(COL2A1):c.255C>T (p.Cys85=)
|
rs1555169484
|
|
NM_001844.5(COL2A1):c.2734-18C>T
|
rs570573455
|
|
NM_001844.5(COL2A1):c.3490-19C>A
|
rs200223738
|
|
NM_001844.5(COL2A1):c.3756C>T (p.Asp1252=)
|
rs377079894
|
|
NM_001844.5(COL2A1):c.4149G>T (p.Thr1383=)
|
rs750227063
|
|
NM_001844.5(COL2A1):c.734C>T (p.Pro245Leu)
|
rs1592232018
|
|
NM_001851.6(COL9A1):c.2079+7dup
|
rs552585742
|
|
NM_001852.4(COL9A2):c.1162-7A>G
|
rs557381059
|
|
NM_001852.4(COL9A2):c.1323+14C>A
|
rs568467832
|
|
NM_001852.4(COL9A2):c.1753G>T (p.Val585Leu)
|
rs202153520
|
|
NM_001853.4(COL9A3):c.792+19G>A
|
rs115466848
|
|
NM_001854.4(COL11A1):c.1945-7C>A
|
rs201424786
|
|
NM_001854.4(COL11A1):c.275-17del
|
rs3841819
|
|
NM_001854.4(COL11A1):c.4464+17G>A
|
rs970605834
|
|
NM_001972.4(ELANE):c.606C>T (p.Ser202=)
|
rs17216649
|
|
NM_001999.4(FBN2):c.*372del
|
rs544546746
|
|
NM_001999.4(FBN2):c.*93TAA[2]
|
rs199925656
|
|
NM_001999.4(FBN2):c.1014G>A (p.Val338=)
|
|
|
NM_001999.4(FBN2):c.1018A>G (p.Ser340Gly)
|
|
|
NM_001999.4(FBN2):c.1019G>A (p.Ser340Asn)
|
|
|
NM_001999.4(FBN2):c.102G>A (p.Pro34=)
|
|
|
NM_001999.4(FBN2):c.1053C>T (p.Thr351=)
|
rs1554067080
|
|
NM_001999.4(FBN2):c.1078+10G>A
|
|
|
NM_001999.4(FBN2):c.1078+9C>G
|
rs371692018
|
|
NM_001999.4(FBN2):c.1079-9C>T
|
|
|
NM_001999.4(FBN2):c.1119C>A (p.Gly373=)
|
rs1554066145
|
|
NM_001999.4(FBN2):c.111G>C (p.Pro37=)
|
|
|
NM_001999.4(FBN2):c.1121G>A (p.Arg374His)
|
|
|
NM_001999.4(FBN2):c.115C>A (p.Arg39=)
|
rs763202121
|
|
NM_001999.4(FBN2):c.117G>T (p.Arg39=)
|
|
|
NM_001999.4(FBN2):c.120C>T (p.Pro40=)
|
|
|
NM_001999.4(FBN2):c.1231+12G>A
|
|
|
NM_001999.4(FBN2):c.1231+15G>A
|
|
|
NM_001999.4(FBN2):c.1231+19G>A
|
|
|
NM_001999.4(FBN2):c.1232-6T>C
|
rs1581260490
|
|
NM_001999.4(FBN2):c.1232-8T>C
|
|
|
NM_001999.4(FBN2):c.1236A>G (p.Glu412=)
|
|
|
NM_001999.4(FBN2):c.1241G>A (p.Arg414His)
|
|
|
NM_001999.4(FBN2):c.1275A>T (p.Gly425=)
|
|
|
NM_001999.4(FBN2):c.1281A>G (p.Pro427=)
|
|
|
NM_001999.4(FBN2):c.1295C>A (p.Ser432Tyr)
|
|
|
NM_001999.4(FBN2):c.132G>A (p.Pro44=)
|
rs199702573
|
|
NM_001999.4(FBN2):c.132G>T (p.Pro44=)
|
|
|
NM_001999.4(FBN2):c.135A>G (p.Gln45=)
|
rs1182394348
|
|
NM_001999.4(FBN2):c.1380C>T (p.Pro460=)
|
|
|
NM_001999.4(FBN2):c.1386T>C (p.Pro462=)
|
rs778468050
|
|
NM_001999.4(FBN2):c.1398C>T (p.Gly466=)
|
rs1554066010
|
|
NM_001999.4(FBN2):c.1411G>C (p.Val471Leu)
|
rs138046782
|
|
NM_001999.4(FBN2):c.1437G>A (p.Gly479=)
|
|
|
NM_001999.4(FBN2):c.1438G>A (p.Gly480Arg)
|
|
|
NM_001999.4(FBN2):c.143G>T (p.Arg48Leu)
|
rs779831723
|
|
NM_001999.4(FBN2):c.1443G>A (p.Gln481=)
|
rs923812426
|
|
NM_001999.4(FBN2):c.1452C>T (p.Ile484=)
|
|
|
NM_001999.4(FBN2):c.1458T>A (p.Thr486=)
|
|
|
NM_001999.4(FBN2):c.1465+17C>T
|
|
|
NM_001999.4(FBN2):c.1466-12A>G
|
|
|
NM_001999.4(FBN2):c.1466-17G>T
|
rs2126977471
|
|
NM_001999.4(FBN2):c.1466-19G>T
|
|
|
NM_001999.4(FBN2):c.1466-5del
|
|
|
NM_001999.4(FBN2):c.1473G>C (p.Leu491=)
|
|
|
NM_001999.4(FBN2):c.147C>A (p.Ser49=)
|
|
|
NM_001999.4(FBN2):c.147C>T (p.Ser49=)
|
rs1194404343
|
|
NM_001999.4(FBN2):c.1512T>G (p.Leu504=)
|
|
|
NM_001999.4(FBN2):c.1526G>A (p.Arg509His)
|
rs199587570
|
|
NM_001999.4(FBN2):c.1537A>G (p.Thr513Ala)
|
|
|
NM_001999.4(FBN2):c.1543T>A (p.Ser515Thr)
|
rs528255772
|
|
NM_001999.4(FBN2):c.1589A>G (p.Asn530Ser)
|
|
|
NM_001999.4(FBN2):c.1603+15C>G
|
|
|
NM_001999.4(FBN2):c.1603+19A>G
|
|
|
NM_001999.4(FBN2):c.1603+9G>C
|
rs774984154
|
|
NM_001999.4(FBN2):c.1604-7C>T
|
rs2126960298
|
|
NM_001999.4(FBN2):c.1604-8G>C
|
|
|
NM_001999.4(FBN2):c.1614A>G (p.Glu538=)
|
|
|
NM_001999.4(FBN2):c.162T>G (p.Ser54=)
|
|
|
NM_001999.4(FBN2):c.1644T>C (p.Asp548=)
|
|
|
NM_001999.4(FBN2):c.1662T>C (p.Gly554=)
|
rs1400948280
|
|
NM_001999.4(FBN2):c.1686T>G (p.Ala562=)
|
rs1581251758
|
|
NM_001999.4(FBN2):c.168C>T (p.Gly56=)
|
rs778237524
|
|
NM_001999.4(FBN2):c.1723+12T>G
|
|
|
NM_001999.4(FBN2):c.1724-14C>A
|
|
|
NM_001999.4(FBN2):c.1759A>G (p.Lys587Glu)
|
|
|
NM_001999.4(FBN2):c.175C>T (p.Leu59=)
|
|
|
NM_001999.4(FBN2):c.1773C>T (p.Cys591=)
|
rs763629454
|
|
NM_001999.4(FBN2):c.1797G>A (p.Gln599=)
|
|
|
NM_001999.4(FBN2):c.1849+20C>T
|
|
|
NM_001999.4(FBN2):c.1849+5G>A
|
rs1561426412
|
|
NM_001999.4(FBN2):c.189T>C (p.Tyr63=)
|
rs1435288732
|
|
NM_001999.4(FBN2):c.1917C>T (p.Phe639=)
|
|
|
NM_001999.4(FBN2):c.1954A>C (p.Asn652His)
|
rs749765413
|
|
NM_001999.4(FBN2):c.1954A>G (p.Asn652Asp)
|
|
|
NM_001999.4(FBN2):c.1959G>T (p.Gly653=)
|
|
|
NM_001999.4(FBN2):c.1960C>T (p.Arg654Cys)
|
|
|
NM_001999.4(FBN2):c.1972+10G>T
|
|
|
NM_001999.4(FBN2):c.1972+4TG[2]
|
|
|
NM_001999.4(FBN2):c.1973-8C>A
|
|
|
NM_001999.4(FBN2):c.1973-9A>T
|
|
|
NM_001999.4(FBN2):c.1990A>G (p.Thr664Ala)
|
rs746408145
|
|
NM_001999.4(FBN2):c.1995A>G (p.Pro665=)
|
|
|
NM_001999.4(FBN2):c.2014C>T (p.His672Tyr)
|
|
|
NM_001999.4(FBN2):c.2042G>T (p.Arg681Leu)
|
rs548605398
|
|
NM_001999.4(FBN2):c.2049C>T (p.Asp683=)
|
|
|
NM_001999.4(FBN2):c.2053C>A (p.Pro685Thr)
|
rs141291125
|
|
NM_001999.4(FBN2):c.2060G>A (p.Gly687Asp)
|
|
|
NM_001999.4(FBN2):c.2095+8A>T
|
|
|
NM_001999.4(FBN2):c.2103C>T (p.His701=)
|
rs148920354
|
|
NM_001999.4(FBN2):c.2150G>A (p.Arg717His)
|
|
|
NM_001999.4(FBN2):c.2161G>A (p.Gly721Ser)
|
rs149733159
|
|
NM_001999.4(FBN2):c.2161G>C (p.Gly721Arg)
|
rs149733159
|
|
NM_001999.4(FBN2):c.216C>T (p.Ser72=)
|
|
|
NM_001999.4(FBN2):c.2187C>T (p.Cys729=)
|
|
|
NM_001999.4(FBN2):c.21G>A (p.Leu7=)
|
rs1002853093
|
|
NM_001999.4(FBN2):c.2236G>A (p.Ala746Thr)
|
|
|
NM_001999.4(FBN2):c.2248+11G>C
|
|
|
NM_001999.4(FBN2):c.2249-15C>T
|
|
|
NM_001999.4(FBN2):c.2249-18T>C
|
rs996601598
|
|
NM_001999.4(FBN2):c.2302+16C>A
|
|
|
NM_001999.4(FBN2):c.2302+9A>G
|
|
|
NM_001999.4(FBN2):c.2303-18T>G
|
|
|
NM_001999.4(FBN2):c.2340C>T (p.Ala780=)
|
rs1060504935
|
|
NM_001999.4(FBN2):c.2359T>A (p.Leu787Ile)
|
rs756348656
|
|
NM_001999.4(FBN2):c.2367T>C (p.Gly789=)
|
|
|
NM_001999.4(FBN2):c.2376T>C (p.Arg792=)
|
|
|
NM_001999.4(FBN2):c.2428+12G>T
|
|
|
NM_001999.4(FBN2):c.2428+18T>C
|
rs775383249
|
|
NM_001999.4(FBN2):c.2429-17T>G
|
|
|
NM_001999.4(FBN2):c.2433T>A (p.Ile811=)
|
|
|
NM_001999.4(FBN2):c.2436T>C (p.Asp812=)
|
|
|
NM_001999.4(FBN2):c.2439A>G (p.Glu813=)
|
rs1581241374
|
|
NM_001999.4(FBN2):c.2457G>A (p.Leu819=)
|
rs370465689
|
|
NM_001999.4(FBN2):c.2466T>C (p.Asp822=)
|
|
|
NM_001999.4(FBN2):c.2473T>C (p.Leu825=)
|
|
|
NM_001999.4(FBN2):c.2486C>T (p.Thr829Met)
|
|
|
NM_001999.4(FBN2):c.2487G>A (p.Thr829=)
|
rs779455710
|
|
NM_001999.4(FBN2):c.251G>C (p.Arg84Pro)
|
|
|
NM_001999.4(FBN2):c.254+10C>G
|
|
|
NM_001999.4(FBN2):c.254+14C>G
|
|
|
NM_001999.4(FBN2):c.254+20C>G
|
|
|
NM_001999.4(FBN2):c.2555-20C>G
|
|
|
NM_001999.4(FBN2):c.2556T>C (p.Asp852=)
|
rs2126931519
|
|
NM_001999.4(FBN2):c.2557A>G (p.Ile853Val)
|
rs148598779
|
|
NM_001999.4(FBN2):c.2572A>G (p.Ser858Gly)
|
|
|
NM_001999.4(FBN2):c.2588A>G (p.Asn863Ser)
|
|
|
NM_001999.4(FBN2):c.2592G>A (p.Gly864=)
|
|
|
NM_001999.4(FBN2):c.2621A>G (p.Asn874Ser)
|
|
|
NM_001999.4(FBN2):c.2631T>C (p.Cys877=)
|
|
|
NM_001999.4(FBN2):c.2633C>T (p.Ser878Leu)
|
|
|
NM_001999.4(FBN2):c.2634G>T (p.Ser878=)
|
rs143905167
|
|
NM_001999.4(FBN2):c.2646A>G (p.Lys882=)
|
rs1035674949
|
|
NM_001999.4(FBN2):c.264G>T (p.Val88=)
|
rs1167442198
|
|
NM_001999.4(FBN2):c.2674+9del
|
rs2126931306
|
|
NM_001999.4(FBN2):c.2675-20C>T
|
|
|
NM_001999.4(FBN2):c.2679C>G (p.Ser893Arg)
|
rs778473524
|
|
NM_001999.4(FBN2):c.2694T>C (p.Cys898=)
|
|
|
NM_001999.4(FBN2):c.2736T>C (p.Asn912=)
|
rs760088310
|
|
NM_001999.4(FBN2):c.2740G>T (p.Ala914Ser)
|
rs370312107
|
|
NM_001999.4(FBN2):c.2787G>A (p.Gly929=)
|
|
|
NM_001999.4(FBN2):c.2812+14T>C
|
|
|
NM_001999.4(FBN2):c.2812+9C>A
|
rs751293821
|
|
NM_001999.4(FBN2):c.282C>T (p.His94=)
|
|
|
NM_001999.4(FBN2):c.2839A>C (p.Arg947=)
|
rs752949752
|
|
NM_001999.4(FBN2):c.2856G>A (p.Thr952=)
|
rs556038110
|
|
NM_001999.4(FBN2):c.2863+9A>G
|
|
|
NM_001999.4(FBN2):c.2864-15T>C
|
|
|
NM_001999.4(FBN2):c.2864-19T>G
|
rs2126919979
|
|
NM_001999.4(FBN2):c.287_289del (p.Tyr96del)
|
rs555068280
|
|
NM_001999.4(FBN2):c.2886C>T (p.Phe962=)
|
rs972172170
|
|
NM_001999.4(FBN2):c.2909G>A (p.Arg970His)
|
rs368402648
|
|
NM_001999.4(FBN2):c.2925G>A (p.Lys975=)
|
|
|
NM_001999.4(FBN2):c.2931T>C (p.Ser977=)
|
|
|
NM_001999.4(FBN2):c.2961G>A (p.Thr987=)
|
rs760390469
|
|
NM_001999.4(FBN2):c.2977C>T (p.Arg993Cys)
|
rs752905724
|
|
NM_001999.4(FBN2):c.2989+13C>A
|
|
|
NM_001999.4(FBN2):c.2990-7G>C
|
rs1245936560
|
|
NM_001999.4(FBN2):c.2993T>A (p.Ile998Asn)
|
|
|
NM_001999.4(FBN2):c.2994T>A (p.Ile998=)
|
|
|
NM_001999.4(FBN2):c.2997C>T (p.Arg999=)
|
rs1751155993
|
|
NM_001999.4(FBN2):c.3012C>T (p.Tyr1004=)
|
|
|
NM_001999.4(FBN2):c.3018G>A (p.Lys1006=)
|
|
|
NM_001999.4(FBN2):c.3045C>G (p.Pro1015=)
|
rs371640952
|
|
NM_001999.4(FBN2):c.3057G>T (p.Lys1019Asn)
|
rs863223561
|
|
NM_001999.4(FBN2):c.3062G>A (p.Arg1021His)
|
rs139620380
|
|
NM_001999.4(FBN2):c.3093G>C (p.Ala1031=)
|
rs528529593
|
|
NM_001999.4(FBN2):c.309G>T (p.Thr103=)
|
|
|
NM_001999.4(FBN2):c.3128C>A (p.Pro1043His)
|
|
|
NM_001999.4(FBN2):c.3145G>C (p.Glu1049Gln)
|
rs771853346
|
|
NM_001999.4(FBN2):c.3147G>A (p.Glu1049=)
|
rs1356177204
|
|
NM_001999.4(FBN2):c.3161G>A (p.Arg1054His)
|
rs753760095
|
|
NM_001999.4(FBN2):c.3161G>T (p.Arg1054Leu)
|
rs753760095
|
|
NM_001999.4(FBN2):c.3162C>A (p.Arg1054=)
|
|
|
NM_001999.4(FBN2):c.3198T>G (p.Thr1066=)
|
rs2126913781
|
|
NM_001999.4(FBN2):c.3202C>T (p.Arg1068Trp)
|
|
|
NM_001999.4(FBN2):c.3203G>A (p.Arg1068Gln)
|
rs563921589
|
|
NM_001999.4(FBN2):c.3207A>G (p.Pro1069=)
|
|
|
NM_001999.4(FBN2):c.3217+12C>T
|
|
|
NM_001999.4(FBN2):c.3217+13G>C
|
rs572013507
|
|
NM_001999.4(FBN2):c.3217+19C>T
|
|
|
NM_001999.4(FBN2):c.3217+8C>A
|
rs1554123700
|
|
NM_001999.4(FBN2):c.3218-13A>T
|
rs200543836
|
|
NM_001999.4(FBN2):c.3218-4T>C
|
|
|
NM_001999.4(FBN2):c.3219C>T (p.Asp1073=)
|
|
|
NM_001999.4(FBN2):c.3222C>A (p.Ile1074=)
|
rs1345516642
|
|
NM_001999.4(FBN2):c.3246G>A (p.Gly1082=)
|
|
|
NM_001999.4(FBN2):c.3285C>T (p.Ser1095=)
|
|
|
NM_001999.4(FBN2):c.3343+12C>G
|
|
|
NM_001999.4(FBN2):c.3343+12C>T
|
rs2126911962
|
|
NM_001999.4(FBN2):c.3344-12C>T
|
|
|
NM_001999.4(FBN2):c.3344-13C>A
|
|
|
NM_001999.4(FBN2):c.3344-6A>T
|
|
|
NM_001999.4(FBN2):c.3352G>A (p.Glu1118Lys)
|
rs1348701377
|
|
NM_001999.4(FBN2):c.3367C>T (p.Pro1123Ser)
|
rs764719151
|
|
NM_001999.4(FBN2):c.337+12G>T
|
rs2112809114
|
|
NM_001999.4(FBN2):c.3372C>T (p.Asp1124=)
|
|
|
NM_001999.4(FBN2):c.338-18C>T
|
|
|
NM_001999.4(FBN2):c.338-4A>G
|
rs1756678272
|
|
NM_001999.4(FBN2):c.3384T>C (p.Ser1128=)
|
|
|
NM_001999.4(FBN2):c.3387A>G (p.Gly1129=)
|
|
|
NM_001999.4(FBN2):c.3390C>A (p.Ile1130=)
|
|
|
NM_001999.4(FBN2):c.3456G>A (p.Met1152Ile)
|
rs863223565
|
|
NM_001999.4(FBN2):c.3472+9C>T
|
rs372520452
|
|
NM_001999.4(FBN2):c.3473-15G>A
|
|
|
NM_001999.4(FBN2):c.3473-16C>T
|
|
|
NM_001999.4(FBN2):c.3474C>T (p.Asp1158=)
|
|
|
NM_001999.4(FBN2):c.3480C>A (p.Asp1160Glu)
|
|
|
NM_001999.4(FBN2):c.3480C>T (p.Asp1160=)
|
rs142323824
|
|
NM_001999.4(FBN2):c.3489A>C (p.Glu1163Asp)
|
|
|
NM_001999.4(FBN2):c.3501C>G (p.Leu1167=)
|
rs2126902161
|
|
NM_001999.4(FBN2):c.3517A>T (p.Thr1173Ser)
|
rs1554123061
|
|
NM_001999.4(FBN2):c.3570G>A (p.Glu1190=)
|
rs2126902008
|
|
NM_001999.4(FBN2):c.3599-13G>T
|
|
|
NM_001999.4(FBN2):c.360A>T (p.Gly120=)
|
|
|
NM_001999.4(FBN2):c.3626A>G (p.Asn1209Ser)
|
|
|
NM_001999.4(FBN2):c.3690A>T (p.Gly1230=)
|
rs774807410
|
|
NM_001999.4(FBN2):c.36C>T (p.Tyr12=)
|
rs1581380471
|
|
NM_001999.4(FBN2):c.3710G>A (p.Arg1237His)
|
rs142185964
|
|
NM_001999.4(FBN2):c.3711C>T (p.Arg1237=)
|
|
|
NM_001999.4(FBN2):c.3725-18G>T
|
|
|
NM_001999.4(FBN2):c.3783G>C (p.Glu1261Asp)
|
|
|
NM_001999.4(FBN2):c.382A>G (p.Asn128Asp)
|
|
|
NM_001999.4(FBN2):c.3848-10G>A
|
rs140017238
|
|
NM_001999.4(FBN2):c.3849C>T (p.Asp1283=)
|
rs983684093
|
|
NM_001999.4(FBN2):c.3866A>G (p.Asn1289Ser)
|
|
|
NM_001999.4(FBN2):c.3885T>C (p.Asp1295=)
|
|
|
NM_001999.4(FBN2):c.3888C>T (p.Gly1296=)
|
|
|
NM_001999.4(FBN2):c.3900C>A (p.Thr1300=)
|
|
|
NM_001999.4(FBN2):c.3900C>T (p.Thr1300=)
|
rs754193286
|
|
NM_001999.4(FBN2):c.3909T>C (p.Pro1303=)
|
|
|
NM_001999.4(FBN2):c.3973+17A>G
|
|
|
NM_001999.4(FBN2):c.3973+7A>G
|
|
|
NM_001999.4(FBN2):c.3974-19T>A
|
rs112950479
|
|
NM_001999.4(FBN2):c.4002T>C (p.Asn1334=)
|
rs759408247
|
|
NM_001999.4(FBN2):c.4017G>A (p.Gly1339=)
|
|
|
NM_001999.4(FBN2):c.4032A>G (p.Thr1344=)
|
|
|
NM_001999.4(FBN2):c.4038A>T (p.Gly1346=)
|
|
|
NM_001999.4(FBN2):c.4044C>T (p.Phe1348=)
|
|
|
NM_001999.4(FBN2):c.4089A>C (p.Thr1363=)
|
|
|
NM_001999.4(FBN2):c.4099+12G>A
|
|
|
NM_001999.4(FBN2):c.4099+7T>G
|
rs1750789192
|
|
NM_001999.4(FBN2):c.4100-11T>C
|
|
|
NM_001999.4(FBN2):c.4100-19A>G
|
|
|
NM_001999.4(FBN2):c.4100-19A>T
|
rs200803675
|
|
NM_001999.4(FBN2):c.4100-6T>C
|
|
|
NM_001999.4(FBN2):c.4100-8T>C
|
|
|
NM_001999.4(FBN2):c.411A>G (p.Ile137Met)
|
|
|
NM_001999.4(FBN2):c.4147T>C (p.Ser1383Pro)
|
|
|
NM_001999.4(FBN2):c.4149A>G (p.Ser1383=)
|
|
|
NM_001999.4(FBN2):c.4203A>G (p.Gly1401=)
|
|
|
NM_001999.4(FBN2):c.4228G>A (p.Asp1410Asn)
|
rs1478574969
|
|
NM_001999.4(FBN2):c.4230C>T (p.Asp1410=)
|
rs138289440
|
|
NM_001999.4(FBN2):c.4254G>A (p.Gln1418=)
|
|
|
NM_001999.4(FBN2):c.4276G>A (p.Val1426Ile)
|
|
|
NM_001999.4(FBN2):c.4302T>C (p.Cys1434=)
|
rs2126889007
|
|
NM_001999.4(FBN2):c.4323T>C (p.Thr1441=)
|
|
|
NM_001999.4(FBN2):c.4345+19G>A
|
rs886038503
|
|
NM_001999.4(FBN2):c.4346-16T>A
|
|
|
NM_001999.4(FBN2):c.436+13C>T
|
|
|
NM_001999.4(FBN2):c.437-12T>C
|
|
|
NM_001999.4(FBN2):c.4397T>G (p.Leu1466Arg)
|
|
|
NM_001999.4(FBN2):c.4404C>T (p.Val1468=)
|
|
|
NM_001999.4(FBN2):c.4410T>G (p.Gly1470=)
|
|
|
NM_001999.4(FBN2):c.4413A>G (p.Ala1471=)
|
|
|
NM_001999.4(FBN2):c.4423G>A (p.Glu1475Lys)
|
|
|
NM_001999.4(FBN2):c.4442C>T (p.Thr1481Ile)
|
|
|
NM_001999.4(FBN2):c.4471+9C>A
|
|
|
NM_001999.4(FBN2):c.4472-18T>A
|
rs200285828
|
|
NM_001999.4(FBN2):c.4472-18T>G
|
|
|
NM_001999.4(FBN2):c.4472-19T>A
|
|
|
NM_001999.4(FBN2):c.4472-7T>C
|
|
|
NM_001999.4(FBN2):c.4545C>T (p.Cys1515=)
|
rs1348263135
|
|
NM_001999.4(FBN2):c.4563T>C (p.Tyr1521=)
|
rs1434367982
|
|
NM_001999.4(FBN2):c.4573A>G (p.Arg1525Gly)
|
|
|
NM_001999.4(FBN2):c.4584G>A (p.Gly1528=)
|
rs1554121089
|
|
NM_001999.4(FBN2):c.4590T>C (p.Cys1530=)
|
rs1581212624
|
|
NM_001999.4(FBN2):c.4595-4C>A
|
|
|
NM_001999.4(FBN2):c.4620A>C (p.Ile1540=)
|
|
|
NM_001999.4(FBN2):c.4659C>T (p.Arg1553=)
|
|
|
NM_001999.4(FBN2):c.4665G>A (p.Glu1555=)
|
|
|
NM_001999.4(FBN2):c.4674C>T (p.Cys1558=)
|
|
|
NM_001999.4(FBN2):c.4677A>G (p.Pro1559=)
|
rs1581212135
|
|
NM_001999.4(FBN2):c.4710T>C (p.Gly1570=)
|
|
|
NM_001999.4(FBN2):c.4718-6C>T
|
|
|
NM_001999.4(FBN2):c.471G>A (p.Gly157=)
|
|
|
NM_001999.4(FBN2):c.4757G>A (p.Arg1586Gln)
|
rs143195229
|
|
NM_001999.4(FBN2):c.4767G>T (p.Gly1589=)
|
rs1750089730
|
|
NM_001999.4(FBN2):c.4771C>G (p.Leu1591Val)
|
|
|
NM_001999.4(FBN2):c.4773G>A (p.Leu1591=)
|
rs753387547
|
|
NM_001999.4(FBN2):c.4815A>C (p.Ser1605=)
|
rs377657220
|
|
NM_001999.4(FBN2):c.4828C>T (p.Leu1610=)
|
|
|
NM_001999.4(FBN2):c.4863C>T (p.Cys1621=)
|
|
|
NM_001999.4(FBN2):c.4867C>T (p.Pro1623Ser)
|
rs139830237
|
|
NM_001999.4(FBN2):c.4879+12G>A
|
|
|
NM_001999.4(FBN2):c.4879+16A>G
|
rs2126847534
|
|
NM_001999.4(FBN2):c.4880-12A>G
|
rs376111927
|
|
NM_001999.4(FBN2):c.4880-14C>G
|
|
|
NM_001999.4(FBN2):c.4896G>A (p.Leu1632=)
|
|
|
NM_001999.4(FBN2):c.4938C>T (p.Ile1646=)
|
rs773597432
|
|
NM_001999.4(FBN2):c.4948+15T>C
|
|
|
NM_001999.4(FBN2):c.4949-12C>T
|
|
|
NM_001999.4(FBN2):c.4949-17T>C
|
rs2126846281
|
|
NM_001999.4(FBN2):c.4949-19A>C
|
|
|
NM_001999.4(FBN2):c.4949-6T>C
|
|
|
NM_001999.4(FBN2):c.4971A>G (p.Leu1657=)
|
|
|
NM_001999.4(FBN2):c.4980C>T (p.Leu1660=)
|
|
|
NM_001999.4(FBN2):c.4986G>A (p.Gln1662=)
|
rs1554120357
|
|
NM_001999.4(FBN2):c.5052C>T (p.Ser1684=)
|
|
|
NM_001999.4(FBN2):c.5068T>C (p.Cys1690Arg)
|
rs141401126
|
|
NM_001999.4(FBN2):c.5074+12T>A
|
|
|
NM_001999.4(FBN2):c.5075-10C>G
|
|
|
NM_001999.4(FBN2):c.5075-19A>T
|
|
|
NM_001999.4(FBN2):c.5075-20_5075-17del
|
|
|
NM_001999.4(FBN2):c.5118G>A (p.Gly1706=)
|
rs1284156837
|
|
NM_001999.4(FBN2):c.518C>T (p.Thr173Ile)
|
rs147157552
|
|
NM_001999.4(FBN2):c.5201-17dup
|
|
|
NM_001999.4(FBN2):c.5201-19T>G
|
|
|
NM_001999.4(FBN2):c.5201-20C>A
|
|
|
NM_001999.4(FBN2):c.5257T>C (p.Leu1753=)
|
|
|
NM_001999.4(FBN2):c.528A>G (p.Gly176=)
|
|
|
NM_001999.4(FBN2):c.5307C>A (p.Gly1769=)
|
rs755781072
|
|
NM_001999.4(FBN2):c.532+16T>G
|
|
|
NM_001999.4(FBN2):c.533-14A>G
|
|
|
NM_001999.4(FBN2):c.533-4G>A
|
|
|
NM_001999.4(FBN2):c.5337C>T (p.Cys1779=)
|
rs1307268596
|
|
NM_001999.4(FBN2):c.533C>T (p.Pro178Leu)
|
|
|
NM_001999.4(FBN2):c.5346A>G (p.Pro1782=)
|
rs2126842864
|
|
NM_001999.4(FBN2):c.5353+10C>A
|
rs113589974
|
|
NM_001999.4(FBN2):c.5353+15C>A
|
|
|
NM_001999.4(FBN2):c.5353+16G>C
|
|
|
NM_001999.4(FBN2):c.5354-4A>G
|
rs2126840686
|
|
NM_001999.4(FBN2):c.5392A>G (p.Thr1798Ala)
|
|
|
NM_001999.4(FBN2):c.5422+11C>T
|
|
|
NM_001999.4(FBN2):c.5422+14G>A
|
|
|
NM_001999.4(FBN2):c.5422+20G>A
|
|
|
NM_001999.4(FBN2):c.5423-18A>C
|
|
|
NM_001999.4(FBN2):c.5423-18A>G
|
|
|
NM_001999.4(FBN2):c.5472C>T (p.Cys1824=)
|
rs1385121154
|
|
NM_001999.4(FBN2):c.5511A>G (p.Thr1837=)
|
|
|
NM_001999.4(FBN2):c.5549-8T>C
|
|
|
NM_001999.4(FBN2):c.5550T>C (p.Asp1850=)
|
|
|
NM_001999.4(FBN2):c.5593G>T (p.Ala1865Ser)
|
rs200681872
|
|
NM_001999.4(FBN2):c.5595A>T (p.Ala1865=)
|
rs1749846586
|
|
NM_001999.4(FBN2):c.5623C>T (p.Arg1875Cys)
|
|
|
NM_001999.4(FBN2):c.5674+12G>A
|
|
|
NM_001999.4(FBN2):c.5674+8A>G
|
rs2126838714
|
|
NM_001999.4(FBN2):c.5675-14T>A
|
|
|
NM_001999.4(FBN2):c.5675-17A>G
|
|
|
NM_001999.4(FBN2):c.5675-18del
|
|
|
NM_001999.4(FBN2):c.5700T>C (p.Pro1900=)
|
|
|
NM_001999.4(FBN2):c.5718C>T (p.Gly1906=)
|
|
|
NM_001999.4(FBN2):c.573C>A (p.Ile191=)
|
|
|
NM_001999.4(FBN2):c.5744A>T (p.Tyr1915Phe)
|
|
|
NM_001999.4(FBN2):c.5745C>T (p.Tyr1915=)
|
|
|
NM_001999.4(FBN2):c.5754C>A (p.Ile1918=)
|
rs1554119714
|
|
NM_001999.4(FBN2):c.5775T>C (p.Ala1925=)
|
|
|
NM_001999.4(FBN2):c.579C>G (p.Pro193=)
|
|
|
NM_001999.4(FBN2):c.5800+16G>A
|
|
|
NM_001999.4(FBN2):c.5800+19T>C
|
rs1027122765
|
|
NM_001999.4(FBN2):c.5800+20C>T
|
rs1554119695
|
|
NM_001999.4(FBN2):c.5800+9G>A
|
|
|
NM_001999.4(FBN2):c.5801-18G>T
|
|
|
NM_001999.4(FBN2):c.5801-5T>G
|
rs571282132
|
|
NM_001999.4(FBN2):c.5805T>C (p.Val1935=)
|
rs777941578
|
|
NM_001999.4(FBN2):c.5818C>T (p.Arg1940Trp)
|
rs755672868
|
|
NM_001999.4(FBN2):c.584G>A (p.Arg195His)
|
rs746890032
|
|
NM_001999.4(FBN2):c.5868C>T (p.Asn1956=)
|
|
|
NM_001999.4(FBN2):c.5871T>C (p.Cys1957=)
|
|
|
NM_001999.4(FBN2):c.5886G>C (p.Gly1962=)
|
rs747408641
|
|
NM_001999.4(FBN2):c.5889T>C (p.Phe1963=)
|
rs1554119526
|
|
NM_001999.4(FBN2):c.5895C>G (p.Leu1965=)
|
rs1581201379
|
|
NM_001999.4(FBN2):c.5898T>C (p.Thr1966=)
|
rs2126835924
|
|
NM_001999.4(FBN2):c.5917+10T>G
|
|
|
NM_001999.4(FBN2):c.5917+20C>T
|
|
|
NM_001999.4(FBN2):c.5918-13T>C
|
|
|
NM_001999.4(FBN2):c.5918-20A>G
|
|
|
NM_001999.4(FBN2):c.5971T>C (p.Phe1991Leu)
|
|
|
NM_001999.4(FBN2):c.5976T>C (p.Asn1992=)
|
rs1749717202
|
|
NM_001999.4(FBN2):c.6046+10T>C
|
rs1179452976
|
|
NM_001999.4(FBN2):c.6046+16A>G
|
|
|
NM_001999.4(FBN2):c.6047-13T>C
|
|
|
NM_001999.4(FBN2):c.6055G>A (p.Glu2019Lys)
|
rs1554119321
|
|
NM_001999.4(FBN2):c.6071C>A (p.Pro2024His)
|
|
|
NM_001999.4(FBN2):c.60G>C (p.Val20=)
|
|
|
NM_001999.4(FBN2):c.6147A>G (p.Val2049=)
|
|
|
NM_001999.4(FBN2):c.6154G>A (p.Glu2052Lys)
|
|
|
NM_001999.4(FBN2):c.6167-12C>T
|
|
|
NM_001999.4(FBN2):c.6167-13_6167-11del
|
rs1749326713
|
|
NM_001999.4(FBN2):c.6167-15C>A
|
rs1749327059
|
|
NM_001999.4(FBN2):c.6167-4G>A
|
rs370981323
|
|
NM_001999.4(FBN2):c.6195C>T (p.Asn2065=)
|
|
|
NM_001999.4(FBN2):c.6231G>A (p.Gly2077=)
|
|
|
NM_001999.4(FBN2):c.6270T>C (p.Ser2090=)
|
rs2126822027
|
|
NM_001999.4(FBN2):c.628+20T>G
|
|
|
NM_001999.4(FBN2):c.628+8G>A
|
|
|
NM_001999.4(FBN2):c.6281G>A (p.Arg2094Gln)
|
|
|
NM_001999.4(FBN2):c.6282G>T (p.Arg2094=)
|
|
|
NM_001999.4(FBN2):c.629-11C>T
|
rs2127084540
|
|
NM_001999.4(FBN2):c.629-15T>G
|
|
|
NM_001999.4(FBN2):c.629-26TCTT[4]
|
rs778383061
|
|
NM_001999.4(FBN2):c.6292+11G>C
|
|
|
NM_001999.4(FBN2):c.6292+17C>G
|
|
|
NM_001999.4(FBN2):c.6292+17C>T
|
rs776362563
|
|
NM_001999.4(FBN2):c.6293-13C>A
|
|
|
NM_001999.4(FBN2):c.63C>G (p.Leu21=)
|
rs2112811119
|
|
NM_001999.4(FBN2):c.6424C>T (p.Leu2142=)
|
rs2126821243
|
|
NM_001999.4(FBN2):c.6426G>A (p.Leu2142=)
|
rs2126821236
|
|
NM_001999.4(FBN2):c.6426G>C (p.Leu2142=)
|
rs2126821236
|
|
NM_001999.4(FBN2):c.6437A>G (p.Asp2146Gly)
|
rs760548036
|
|
NM_001999.4(FBN2):c.6445+14C>T
|
|
|
NM_001999.4(FBN2):c.6445+7G>T
|
|
|
NM_001999.4(FBN2):c.6446-12T>G
|
|
|
NM_001999.4(FBN2):c.6446-15T>C
|
|
|
NM_001999.4(FBN2):c.6446-4G>C
|
|
|
NM_001999.4(FBN2):c.6446-8C>A
|
rs2126820462
|
|
NM_001999.4(FBN2):c.6446T>C (p.Val2149Ala)
|
rs191065419
|
|
NM_001999.4(FBN2):c.6456G>A (p.Gln2152=)
|
|
|
NM_001999.4(FBN2):c.645G>T (p.Pro215=)
|
rs764473594
|
|
NM_001999.4(FBN2):c.6468A>G (p.Pro2156=)
|
|
|
NM_001999.4(FBN2):c.6506G>A (p.Arg2169His)
|
|
|
NM_001999.4(FBN2):c.6512-11C>A
|
rs759648926
|
|
NM_001999.4(FBN2):c.6512-11C>T
|
rs759648926
|
|
NM_001999.4(FBN2):c.6512-8T>A
|
rs2126819626
|
|
NM_001999.4(FBN2):c.6571G>A (p.Asp2191Asn)
|
rs1244642553
|
|
NM_001999.4(FBN2):c.6637+8T>C
|
rs780697390
|
|
NM_001999.4(FBN2):c.6638-13T>A
|
|
|
NM_001999.4(FBN2):c.6638-15_6638-13del
|
rs756212920
|
|
NM_001999.4(FBN2):c.6638-19T>C
|
rs2126818779
|
|
NM_001999.4(FBN2):c.6638-9_6638-7del
|
rs754187604
|
|
NM_001999.4(FBN2):c.6678T>C (p.Gly2226=)
|
rs2126818668
|
|
NM_001999.4(FBN2):c.6693T>C (p.Val2231=)
|
rs1554118051
|
|
NM_001999.4(FBN2):c.6719A>G (p.Asn2240Ser)
|
rs863223612
|
|
NM_001999.4(FBN2):c.6757+8A>T
|
|
|
NM_001999.4(FBN2):c.6757+9T>C
|
|
|
NM_001999.4(FBN2):c.6758-12del
|
rs757126046
|
|
NM_001999.4(FBN2):c.676C>G (p.Gln226Glu)
|
|
|
NM_001999.4(FBN2):c.6777G>A (p.Gln2259=)
|
|
|
NM_001999.4(FBN2):c.677A>G (p.Gln226Arg)
|
|
|
NM_001999.4(FBN2):c.6783A>C (p.Pro2261=)
|
rs1561749096
|
|
NM_001999.4(FBN2):c.6786G>T (p.Leu2262=)
|
|
|
NM_001999.4(FBN2):c.6840G>A (p.Pro2280=)
|
rs377742525
|
|
NM_001999.4(FBN2):c.685C>T (p.Leu229=)
|
rs200698449
|
|
NM_001999.4(FBN2):c.6880+16C>T
|
|
|
NM_001999.4(FBN2):c.6880+19G>T
|
|
|
NM_001999.4(FBN2):c.6881-13T>C
|
|
|
NM_001999.4(FBN2):c.6881-19T>A
|
|
|
NM_001999.4(FBN2):c.6881-4C>G
|
|
|
NM_001999.4(FBN2):c.6903G>A (p.Gly2301=)
|
|
|
NM_001999.4(FBN2):c.6903G>T (p.Gly2301=)
|
rs886039130
|
|
NM_001999.4(FBN2):c.6908A>G (p.His2303Arg)
|
|
|
NM_001999.4(FBN2):c.6948C>T (p.Ile2316=)
|
rs17608368
|
|
NM_001999.4(FBN2):c.6972T>A (p.Pro2324=)
|
|
|
NM_001999.4(FBN2):c.6972T>C (p.Pro2324=)
|
rs1581188714
|
|
NM_001999.4(FBN2):c.6972T>G (p.Pro2324=)
|
|
|
NM_001999.4(FBN2):c.6975T>C (p.Pro2325=)
|
|
|
NM_001999.4(FBN2):c.6986G>T (p.Arg2329Leu)
|
rs370804151
|
|
NM_001999.4(FBN2):c.6993C>T (p.Pro2331=)
|
rs368234173
|
|
NM_001999.4(FBN2):c.6999A>C (p.Gly2333=)
|
|
|
NM_001999.4(FBN2):c.7012+13G>A
|
|
|
NM_001999.4(FBN2):c.7012+18G>T
|
|
|
NM_001999.4(FBN2):c.7012+7G>C
|
rs199735209
|
|
NM_001999.4(FBN2):c.7012+8G>A
|
rs1422660066
|
|
NM_001999.4(FBN2):c.7013-5del
|
|
|
NM_001999.4(FBN2):c.7013-7T>C
|
|
|
NM_001999.4(FBN2):c.705G>A (p.Thr235=)
|
|
|
NM_001999.4(FBN2):c.705G>T (p.Thr235=)
|
|
|
NM_001999.4(FBN2):c.7085G>A (p.Arg2362Lys)
|
rs771718967
|
|
NM_001999.4(FBN2):c.7085G>C (p.Arg2362Thr)
|
rs771718967
|
|
NM_001999.4(FBN2):c.7128T>C (p.Thr2376=)
|
rs1765497836
|
|
NM_001999.4(FBN2):c.714G>C (p.Leu238=)
|
|
|
NM_001999.4(FBN2):c.7155C>T (p.Leu2385=)
|
|
|
NM_001999.4(FBN2):c.7158C>T (p.Cys2386=)
|
rs759522946
|
|
NM_001999.4(FBN2):c.7161T>C (p.Phe2387=)
|
|
|
NM_001999.4(FBN2):c.7170A>T (p.Val2390=)
|
|
|
NM_001999.4(FBN2):c.7204C>T (p.Arg2402Cys)
|
|
|
NM_001999.4(FBN2):c.7260C>T (p.His2420=)
|
rs775251012
|
|
NM_001999.4(FBN2):c.7278A>G (p.Pro2426=)
|
rs773011673
|
|
NM_001999.4(FBN2):c.7288A>G (p.Thr2430Ala)
|
|
|
NM_001999.4(FBN2):c.7345+10T>C
|
|
|
NM_001999.4(FBN2):c.7345+9T>A
|
|
|
NM_001999.4(FBN2):c.7346-17G>T
|
|
|
NM_001999.4(FBN2):c.7346-8G>A
|
rs2126808910
|
|
NM_001999.4(FBN2):c.736G>A (p.Ala246Thr)
|
rs141088981
|
|
NM_001999.4(FBN2):c.737C>T (p.Ala246Val)
|
|
|
NM_001999.4(FBN2):c.738G>T (p.Ala246=)
|
|
|
NM_001999.4(FBN2):c.7392G>A (p.Gln2464=)
|
|
|
NM_001999.4(FBN2):c.7404C>G (p.Thr2468=)
|
|
|
NM_001999.4(FBN2):c.7418G>A (p.Arg2473Gln)
|
rs28763925
|
|
NM_001999.4(FBN2):c.7418G>T (p.Arg2473Leu)
|
rs28763925
|
|
NM_001999.4(FBN2):c.7428C>T (p.Cys2476=)
|
rs2126808790
|
|
NM_001999.4(FBN2):c.7464T>C (p.Ser2488=)
|
rs1765435027
|
|
NM_001999.4(FBN2):c.7467T>C (p.Cys2489=)
|
|
|
NM_001999.4(FBN2):c.7468A>G (p.Ile2490Val)
|
|
|
NM_001999.4(FBN2):c.7495C>A (p.Pro2499Thr)
|
|
|
NM_001999.4(FBN2):c.7539T>C (p.Tyr2513=)
|
rs1581181343
|
|
NM_001999.4(FBN2):c.7560G>C (p.Gly2520=)
|
|
|
NM_001999.4(FBN2):c.7567C>T (p.Leu2523=)
|
rs2126807268
|
|
NM_001999.4(FBN2):c.7594+14C>T
|
|
|
NM_001999.4(FBN2):c.7595-12C>G
|
|
|
NM_001999.4(FBN2):c.7595-14C>G
|
|
|
NM_001999.4(FBN2):c.7595-15T>C
|
|
|
NM_001999.4(FBN2):c.7595-17C>A
|
rs1353897134
|
|
NM_001999.4(FBN2):c.7611A>G (p.Gln2537=)
|
|
|
NM_001999.4(FBN2):c.7650C>T (p.Thr2550=)
|
|
|
NM_001999.4(FBN2):c.7656G>A (p.Gly2552=)
|
rs982288060
|
|
NM_001999.4(FBN2):c.7656G>T (p.Gly2552=)
|
|
|
NM_001999.4(FBN2):c.7658G>C (p.Gly2553Ala)
|
rs764514988
|
|
NM_001999.4(FBN2):c.7698C>A (p.His2566Gln)
|
|
|
NM_001999.4(FBN2):c.7704T>C (p.Ala2568=)
|
rs778549338
|
|
NM_001999.4(FBN2):c.7712-8T>G
|
|
|
NM_001999.4(FBN2):c.7758A>C (p.Gly2586=)
|
rs1765323936
|
|
NM_001999.4(FBN2):c.7771A>C (p.Thr2591Pro)
|
rs869025429
|
|
NM_001999.4(FBN2):c.7773T>C (p.Thr2591=)
|
rs1554116608
|
|
NM_001999.4(FBN2):c.7818T>C (p.Asp2606=)
|
|
|
NM_001999.4(FBN2):c.7837G>A (p.Glu2613Lys)
|
|
|
NM_001999.4(FBN2):c.7840+10T>C
|
|
|
NM_001999.4(FBN2):c.7841-14G>A
|
rs751308498
|
|
NM_001999.4(FBN2):c.78G>C (p.Thr26=)
|
rs1265112696
|
|
NM_001999.4(FBN2):c.78G>T (p.Thr26=)
|
|
|
NM_001999.4(FBN2):c.7906A>C (p.Arg2636=)
|
|
|
NM_001999.4(FBN2):c.7914C>T (p.Gly2638=)
|
|
|
NM_001999.4(FBN2):c.795C>T (p.Phe265=)
|
|
|
NM_001999.4(FBN2):c.7A>C (p.Arg3=)
|
rs1466844222
|
|
NM_001999.4(FBN2):c.8001T>A (p.Ala2667=)
|
|
|
NM_001999.4(FBN2):c.8016C>A (p.Thr2672=)
|
|
|
NM_001999.4(FBN2):c.8035G>T (p.Ala2679Ser)
|
rs763870762
|
|
NM_001999.4(FBN2):c.8040C>T (p.Cys2680=)
|
|
|
NM_001999.4(FBN2):c.8049G>T (p.Gly2683=)
|
rs138044126
|
|
NM_001999.4(FBN2):c.8058C>T (p.Phe2686=)
|
rs150734807
|
|
NM_001999.4(FBN2):c.8061C>T (p.Asp2687=)
|
|
|
NM_001999.4(FBN2):c.806T>C (p.Ile269Thr)
|
rs771008563
|
|
NM_001999.4(FBN2):c.8082C>A (p.His2694Gln)
|
rs142755118
|
|
NM_001999.4(FBN2):c.8082C>T (p.His2694=)
|
rs142755118
|
|
NM_001999.4(FBN2):c.8083G>A (p.Asp2695Asn)
|
|
|
NM_001999.4(FBN2):c.809G>A (p.Arg270His)
|
rs148971572
|
|
NM_001999.4(FBN2):c.8100G>A (p.Ser2700=)
|
|
|
NM_001999.4(FBN2):c.8100G>C (p.Ser2700=)
|
rs138659121
|
|
NM_001999.4(FBN2):c.8127C>G (p.Gly2709=)
|
rs141841206
|
|
NM_001999.4(FBN2):c.8138C>T (p.Thr2713Met)
|
rs754101758
|
|
NM_001999.4(FBN2):c.8143G>A (p.Gly2715Arg)
|
rs772569905
|
|
NM_001999.4(FBN2):c.8164C>T (p.Pro2722Ser)
|
|
|
NM_001999.4(FBN2):c.8187A>G (p.Gly2729=)
|
|
|
NM_001999.4(FBN2):c.8192+20C>T
|
|
|
NM_001999.4(FBN2):c.8192+7C>A
|
rs376135657
|
|
NM_001999.4(FBN2):c.8193-9T>G
|
|
|
NM_001999.4(FBN2):c.81C>A (p.Ala27=)
|
|
|
NM_001999.4(FBN2):c.8251G>A (p.Val2751Ile)
|
|
|
NM_001999.4(FBN2):c.826+18C>G
|
|
|
NM_001999.4(FBN2):c.827-10C>T
|
|
|
NM_001999.4(FBN2):c.827-13T>G
|
|
|
NM_001999.4(FBN2):c.827-4G>A
|
|
|
NM_001999.4(FBN2):c.8270T>A (p.Leu2757Gln)
|
|
|
NM_001999.4(FBN2):c.8313T>C (p.Ser2771=)
|
|
|
NM_001999.4(FBN2):c.8322C>T (p.Asp2774=)
|
rs1554115402
|
|
NM_001999.4(FBN2):c.8327G>A (p.Arg2776Lys)
|
|
|
NM_001999.4(FBN2):c.8331G>A (p.Gln2777=)
|
|
|
NM_001999.4(FBN2):c.834T>C (p.Asp278=)
|
rs2127056960
|
|
NM_001999.4(FBN2):c.8359A>G (p.Thr2787Ala)
|
|
|
NM_001999.4(FBN2):c.8364+17C>T
|
|
|
NM_001999.4(FBN2):c.8364+7A>G
|
rs185052980
|
|
NM_001999.4(FBN2):c.8364+8T>C
|
rs1554115371
|
|
NM_001999.4(FBN2):c.8365-17T>G
|
|
|
NM_001999.4(FBN2):c.8365-4C>G
|
rs878854480
|
|
NM_001999.4(FBN2):c.8379C>T (p.Ser2793=)
|
|
|
NM_001999.4(FBN2):c.837A>G (p.Glu279=)
|
rs2127056950
|
|
NM_001999.4(FBN2):c.8391C>G (p.Val2797=)
|
|
|
NM_001999.4(FBN2):c.8392G>A (p.Asp2798Asn)
|
|
|
NM_001999.4(FBN2):c.8430C>A (p.Ser2810=)
|
|
|
NM_001999.4(FBN2):c.8493C>T (p.His2831=)
|
|
|
NM_001999.4(FBN2):c.8495T>A (p.Ile2832Asn)
|
|
|
NM_001999.4(FBN2):c.8499T>G (p.Arg2833=)
|
|
|
NM_001999.4(FBN2):c.84C>A (p.Gly28=)
|
|
|
NM_001999.4(FBN2):c.8508C>T (p.Ile2836=)
|
rs1764914729
|
|
NM_001999.4(FBN2):c.8517G>C (p.Gly2839=)
|
rs1764914519
|
|
NM_001999.4(FBN2):c.8529C>T (p.Ser2843=)
|
|
|
NM_001999.4(FBN2):c.8536C>T (p.Arg2846Cys)
|
|
|
NM_001999.4(FBN2):c.8537G>T (p.Arg2846Leu)
|
rs200345491
|
|
NM_001999.4(FBN2):c.8543A>G (p.His2848Arg)
|
rs1291203524
|
|
NM_001999.4(FBN2):c.8544C>T (p.His2848=)
|
|
|
NM_001999.4(FBN2):c.8584A>C (p.Lys2862Gln)
|
|
|
NM_001999.4(FBN2):c.8585A>C (p.Lys2862Thr)
|
|
|
NM_001999.4(FBN2):c.8587C>T (p.Leu2863Phe)
|
|
|
NM_001999.4(FBN2):c.8589C>T (p.Leu2863=)
|
rs886038784
|
|
NM_001999.4(FBN2):c.8607A>G (p.Thr2869=)
|
|
|
NM_001999.4(FBN2):c.8639A>G (p.Lys2880Arg)
|
rs1367710207
|
|
NM_001999.4(FBN2):c.8664G>C (p.Glu2888Asp)
|
|
|
NM_001999.4(FBN2):c.8677G>A (p.Asp2893Asn)
|
rs748874308
|
|
NM_001999.4(FBN2):c.8688A>G (p.Leu2896=)
|
rs1194973560
|
|
NM_001999.4(FBN2):c.8703G>A (p.Glu2901=)
|
rs1374026282
|
|
NM_001999.4(FBN2):c.8734T>C (p.Tyr2912His)
|
|
|
NM_001999.4(FBN2):c.89C>T (p.Pro30Leu)
|
|
|
NM_001999.4(FBN2):c.924A>G (p.Lys308=)
|
|
|
NM_001999.4(FBN2):c.952+14C>G
|
|
|
NM_001999.4(FBN2):c.952+7CT[2]
|
rs750915525
|
|
NM_001999.4(FBN2):c.953-10C>T
|
rs2127000191
|
|
NM_001999.4(FBN2):c.953-14C>T
|
|
|
NM_001999.4(FBN2):c.953-18_953-16del
|
|
|
NM_001999.4(FBN2):c.953-9del
|
rs757659311
|
|
NM_001999.4(FBN2):c.960T>C (p.Asp320=)
|
rs1581270421
|
|
NM_001999.4(FBN2):c.969C>T (p.Ser323=)
|
rs1554067083
|
|
NM_002221.4(ITPKB):c.220G>A (p.Gly74Ser)
|
|
|
NM_002451.4(MTAP):c.*1105del
|
rs200216058
|
|
NM_002474.3(MYH11):c.2967C>G (p.Val989=)
|
rs1567717006
|
|
NM_002474.3(MYH11):c.3874G>A (p.Val1292Ile)
|
rs151058774
|
|
NM_002474.3(MYH11):c.4598C>G (p.Ser1533Cys)
|
rs748529935
|
|
NM_002609.4(PDGFRB):c.1008G>A (p.Leu336=)
|
|
|
NM_002609.4(PDGFRB):c.1057G>C (p.Asp353His)
|
|
|
NM_002609.4(PDGFRB):c.1127+17C>G
|
|
|
NM_002609.4(PDGFRB):c.1176C>T (p.Gly392=)
|
|
|
NM_002609.4(PDGFRB):c.1189C>T (p.Arg397Trp)
|
|
|
NM_002609.4(PDGFRB):c.1243+12G>A
|
|
|
NM_002609.4(PDGFRB):c.1244-4G>A
|
rs1580805805
|
|
NM_002609.4(PDGFRB):c.1244-5T>C
|
|
|
NM_002609.4(PDGFRB):c.1253G>A (p.Arg418Gln)
|
|
|
NM_002609.4(PDGFRB):c.1302C>G (p.Val434=)
|
|
|
NM_002609.4(PDGFRB):c.1332G>A (p.Pro444=)
|
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|
NM_002609.4(PDGFRB):c.1332G>C (p.Pro444=)
|
|
|
NM_002609.4(PDGFRB):c.1360C>T (p.Leu454Phe)
|
|
|
NM_002609.4(PDGFRB):c.1367+20A>G
|
|
|
NM_002609.4(PDGFRB):c.1399G>A (p.Gly467Arg)
|
|
|
NM_002609.4(PDGFRB):c.1442C>T (p.Thr481Met)
|
|
|
NM_002609.4(PDGFRB):c.1487G>A (p.Arg496His)
|
|
|
NM_002609.4(PDGFRB):c.1494G>A (p.Gln498=)
|
|
|
NM_002609.4(PDGFRB):c.1497C>T (p.His499=)
|
|
|
NM_002609.4(PDGFRB):c.1527G>A (p.Thr509=)
|
|
|
NM_002609.4(PDGFRB):c.1527G>T (p.Thr509=)
|
rs750725462
|
|
NM_002609.4(PDGFRB):c.1535A>G (p.Asn512Ser)
|
|
|
NM_002609.4(PDGFRB):c.1554G>A (p.Thr518=)
|
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|
NM_002609.4(PDGFRB):c.1554G>T (p.Thr518=)
|
rs371192118
|
|
NM_002609.4(PDGFRB):c.1563C>T (p.Val521=)
|
rs1580804718
|
|
NM_002609.4(PDGFRB):c.1566C>T (p.Ile522=)
|
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|
NM_002609.4(PDGFRB):c.1567G>A (p.Val523Met)
|
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|
NM_002609.4(PDGFRB):c.1580-8G>A
|
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|
NM_002609.4(PDGFRB):c.1629G>A (p.Val543=)
|
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|
NM_002609.4(PDGFRB):c.1663C>G (p.Leu555Val)
|
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|
NM_002609.4(PDGFRB):c.1674+9C>G
|
rs1231443369
|
|
NM_002609.4(PDGFRB):c.1675-14G>T
|
|
|
NM_002609.4(PDGFRB):c.1675-17T>G
|
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|
NM_002609.4(PDGFRB):c.1675-4C>T
|
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|
NM_002609.4(PDGFRB):c.1734G>A (p.Glu578=)
|
rs2113897064
|
|
NM_002609.4(PDGFRB):c.1776G>A (p.Thr592=)
|
rs367951719
|
|
NM_002609.4(PDGFRB):c.1776G>T (p.Thr592=)
|
|
|
NM_002609.4(PDGFRB):c.177G>A (p.Pro59=)
|
|
|
NM_002609.4(PDGFRB):c.1788G>A (p.Pro596=)
|
|
|
NM_002609.4(PDGFRB):c.1788G>T (p.Pro596=)
|
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|
NM_002609.4(PDGFRB):c.1842G>A (p.Val614=)
|
|
|
NM_002609.4(PDGFRB):c.1883C>T (p.Thr628Met)
|
|
|
NM_002609.4(PDGFRB):c.1913-10T>A
|
|
|
NM_002609.4(PDGFRB):c.1958A>G (p.Lys653Arg)
|
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|
NM_002609.4(PDGFRB):c.2023+16C>T
|
|
|
NM_002609.4(PDGFRB):c.2070G>A (p.Val690=)
|
|
|
NM_002609.4(PDGFRB):c.2084G>A (p.Arg695His)
|
|
|
NM_002609.4(PDGFRB):c.2115C>T (p.Ser705=)
|
|
|
NM_002609.4(PDGFRB):c.2122C>T (p.Arg708Cys)
|
|
|
NM_002609.4(PDGFRB):c.2163C>T (p.Pro721=)
|
|
|
NM_002609.4(PDGFRB):c.2164G>A (p.Val722Ile)
|
|
|
NM_002609.4(PDGFRB):c.2169G>T (p.Gly723=)
|
rs961398213
|
|
NM_002609.4(PDGFRB):c.2183+18A>G
|
|
|
NM_002609.4(PDGFRB):c.2183+19G>A
|
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NM_002609.4(PDGFRB):c.2184-7C>T
|
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|
NM_002609.4(PDGFRB):c.2200G>A (p.Gly734Arg)
|
|
|
NM_002609.4(PDGFRB):c.2208C>T (p.Ser736=)
|
|
|
NM_002609.4(PDGFRB):c.225G>A (p.Lys75=)
|
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|
NM_002609.4(PDGFRB):c.2298C>T (p.Ile766=)
|
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|
NM_002609.4(PDGFRB):c.2345-18C>T
|
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|
NM_002609.4(PDGFRB):c.2394A>C (p.Leu798=)
|
|
|
NM_002609.4(PDGFRB):c.2499C>A (p.Leu833=)
|
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|
NM_002609.4(PDGFRB):c.2557C>A (p.Arg853=)
|
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|
NM_002609.4(PDGFRB):c.2559G>A (p.Arg853=)
|
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|
NM_002609.4(PDGFRB):c.2586+13C>T
|
|
|
NM_002609.4(PDGFRB):c.2586+20C>A
|
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|
NM_002609.4(PDGFRB):c.2586+20C>G
|
|
|
NM_002609.4(PDGFRB):c.259C>T (p.Leu87=)
|
|
|
NM_002609.4(PDGFRB):c.2635C>A (p.Leu879Ile)
|
|
|
NM_002609.4(PDGFRB):c.2667C>T (p.Phe889=)
|
|
|
NM_002609.4(PDGFRB):c.2756G>A (p.Arg919Gln)
|
|
|
NM_002609.4(PDGFRB):c.2791G>A (p.Asp931Asn)
|
|
|
NM_002609.4(PDGFRB):c.2798+10G>A
|
|
|
NM_002609.4(PDGFRB):c.285G>A (p.Thr95=)
|
|
|
NM_002609.4(PDGFRB):c.2872C>G (p.Leu958Val)
|
rs1321037719
|
|
NM_002609.4(PDGFRB):c.2874C>T (p.Leu958=)
|
rs773161073
|
|
NM_002609.4(PDGFRB):c.2905-19C>G
|
|
|
NM_002609.4(PDGFRB):c.2905-8G>C
|
|
|
NM_002609.4(PDGFRB):c.2970C>T (p.Ala990=)
|
|
|
NM_002609.4(PDGFRB):c.2976G>A (p.Leu992=)
|
|
|
NM_002609.4(PDGFRB):c.3026A>G (p.Tyr1009Cys)
|
|
|
NM_002609.4(PDGFRB):c.3057C>T (p.Asn1019=)
|
|
|
NM_002609.4(PDGFRB):c.3058G>A (p.Asp1020Asn)
|
|
|
NM_002609.4(PDGFRB):c.3069C>T (p.Ile1023=)
|
rs2113883671
|
|
NM_002609.4(PDGFRB):c.3126C>A (p.Pro1042=)
|
|
|
NM_002609.4(PDGFRB):c.3137+13G>T
|
rs2113883431
|
|
NM_002609.4(PDGFRB):c.3137+15C>T
|
|
|
NM_002609.4(PDGFRB):c.3138-11C>G
|
|
|
NM_002609.4(PDGFRB):c.3145C>T (p.Leu1049=)
|
|
|
NM_002609.4(PDGFRB):c.3165C>T (p.Ser1055=)
|
|
|
NM_002609.4(PDGFRB):c.3181G>A (p.Asp1061Asn)
|
|
|
NM_002609.4(PDGFRB):c.3187C>A (p.Pro1063Thr)
|
|
|
NM_002609.4(PDGFRB):c.3205G>A (p.Glu1069Lys)
|
|
|
NM_002609.4(PDGFRB):c.3279G>T (p.Gly1093=)
|
|
|
NM_002609.4(PDGFRB):c.3296C>T (p.Ala1099Val)
|
|
|
NM_002609.4(PDGFRB):c.338G>A (p.Arg113Gln)
|
|
|
NM_002609.4(PDGFRB):c.351C>T (p.Tyr117=)
|
|
|
NM_002609.4(PDGFRB):c.360G>T (p.Val120=)
|
|
|
NM_002609.4(PDGFRB):c.364+15C>G
|
|
|
NM_002609.4(PDGFRB):c.365-13C>T
|
|
|
NM_002609.4(PDGFRB):c.365-5G>C
|
|
|
NM_002609.4(PDGFRB):c.370A>G (p.Thr124Ala)
|
|
|
NM_002609.4(PDGFRB):c.390T>C (p.Asn130=)
|
|
|
NM_002609.4(PDGFRB):c.396C>T (p.Ala132=)
|
rs751600349
|
|
NM_002609.4(PDGFRB):c.40+16A>G
|
|
|
NM_002609.4(PDGFRB):c.40+19_40+23del
|
|
|
NM_002609.4(PDGFRB):c.462A>G (p.Pro154=)
|
|
|
NM_002609.4(PDGFRB):c.468G>A (p.Leu156=)
|
|
|
NM_002609.4(PDGFRB):c.483C>T (p.His161=)
|
|
|
NM_002609.4(PDGFRB):c.48G>A (p.Leu16=)
|
|
|
NM_002609.4(PDGFRB):c.4C>T (p.Arg2Trp)
|
|
|
NM_002609.4(PDGFRB):c.529C>T (p.Arg177Cys)
|
|
|
NM_002609.4(PDGFRB):c.542G>C (p.Gly181Ala)
|
|
|
NM_002609.4(PDGFRB):c.575C>G (p.Thr192Ser)
|
|
|
NM_002609.4(PDGFRB):c.624A>C (p.Arg208Ser)
|
|
|
NM_002609.4(PDGFRB):c.646G>C (p.Val216Leu)
|
|
|
NM_002609.4(PDGFRB):c.735C>T (p.Phe245=)
|
rs765554311
|
|
NM_002609.4(PDGFRB):c.760-10G>T
|
|
|
NM_002609.4(PDGFRB):c.779C>T (p.Pro260Leu)
|
|
|
NM_002609.4(PDGFRB):c.817C>T (p.Arg273Cys)
|
|
|
NM_002609.4(PDGFRB):c.882G>T (p.Thr294=)
|
|
|
NM_002609.4(PDGFRB):c.921C>T (p.Asn307=)
|
|
|
NM_002609.4(PDGFRB):c.935-15G>A
|
|
|
NM_002609.4(PDGFRB):c.935-5T>C
|
|
|
NM_002609.4(PDGFRB):c.935-9C>T
|
|
|
NM_002609.4(PDGFRB):c.949C>T (p.Arg317Trp)
|
|
|
NM_002661.5(PLCG2):c.1017G>A (p.Glu339=)
|
|
|
NM_002661.5(PLCG2):c.1020G>A (p.Ser340=)
|
rs778079439
|
|
NM_002661.5(PLCG2):c.102C>T (p.Arg34=)
|
rs1319448998
|
|
NM_002661.5(PLCG2):c.1045C>T (p.Leu349=)
|
rs1908750480
|
|
NM_002661.5(PLCG2):c.1050C>T (p.Arg350=)
|
|
|
NM_002661.5(PLCG2):c.1072+13T>C
|
|
|
NM_002661.5(PLCG2):c.1072+15_1072+17del
|
|
|
NM_002661.5(PLCG2):c.1073-10C>G
|
rs2143615343
|
|
NM_002661.5(PLCG2):c.1073-16G>A
|
|
|
NM_002661.5(PLCG2):c.1073-8C>T
|
|
|
NM_002661.5(PLCG2):c.111C>T (p.Thr37=)
|
|
|
NM_002661.5(PLCG2):c.1125G>A (p.Thr375=)
|
|
|
NM_002661.5(PLCG2):c.1125G>T (p.Thr375=)
|
rs374233612
|
|
NM_002661.5(PLCG2):c.1143G>A (p.Lys381=)
|
|
|
NM_002661.5(PLCG2):c.114C>A (p.Pro38=)
|
|
|
NM_002661.5(PLCG2):c.114C>G (p.Pro38=)
|
|
|
NM_002661.5(PLCG2):c.1155C>A (p.Val385=)
|
rs756862079
|
|
NM_002661.5(PLCG2):c.1155C>G (p.Val385=)
|
rs756862079
|
|
NM_002661.5(PLCG2):c.1155C>T (p.Val385=)
|
|
|
NM_002661.5(PLCG2):c.1194-20C>G
|
|
|
NM_002661.5(PLCG2):c.1194-8G>T
|
|
|
NM_002661.5(PLCG2):c.1200A>G (p.Pro400=)
|
|
|
NM_002661.5(PLCG2):c.1209G>A (p.Leu403=)
|
rs770867072
|
|
NM_002661.5(PLCG2):c.120G>C (p.Arg40=)
|
|
|
NM_002661.5(PLCG2):c.1215C>A (p.Ile405=)
|
|
|
NM_002661.5(PLCG2):c.1215C>T (p.Ile405=)
|
rs746020068
|
|
NM_002661.5(PLCG2):c.1248C>T (p.His416=)
|
|
|
NM_002661.5(PLCG2):c.1266G>A (p.Lys422=)
|
rs1172331098
|
|
NM_002661.5(PLCG2):c.1288T>C (p.Leu430=)
|
|
|
NM_002661.5(PLCG2):c.1299C>A (p.Pro433=)
|
|
|
NM_002661.5(PLCG2):c.1362+11C>T
|
|
|
NM_002661.5(PLCG2):c.1362+16G>A
|
|
|
NM_002661.5(PLCG2):c.1362+17C>T
|
|
|
NM_002661.5(PLCG2):c.1362+20C>G
|
|
|
NM_002661.5(PLCG2):c.1362+20C>T
|
|
|
NM_002661.5(PLCG2):c.1362+7A>G
|
rs2143631029
|
|
NM_002661.5(PLCG2):c.1377C>T (p.Gly459=)
|
|
|
NM_002661.5(PLCG2):c.1386C>T (p.Gly462=)
|
rs759622571
|
|
NM_002661.5(PLCG2):c.138C>A (p.Ile46=)
|
rs1023636697
|
|
NM_002661.5(PLCG2):c.1392G>A (p.Val464=)
|
|
|
NM_002661.5(PLCG2):c.1398C>T (p.Val466=)
|
|
|
NM_002661.5(PLCG2):c.1416G>A (p.Lys472=)
|
rs970172747
|
|
NM_002661.5(PLCG2):c.1446C>T (p.Tyr482=)
|
rs1567525903
|
|
NM_002661.5(PLCG2):c.1468-8C>T
|
|
|
NM_002661.5(PLCG2):c.1468-9A>C
|
|
|
NM_002661.5(PLCG2):c.1477C>A (p.Arg493=)
|
|
|
NM_002661.5(PLCG2):c.1479G>C (p.Arg493=)
|
|
|
NM_002661.5(PLCG2):c.1488C>T (p.Cys496=)
|
|
|
NM_002661.5(PLCG2):c.1497C>G (p.Ala499=)
|
|
|
NM_002661.5(PLCG2):c.150G>A (p.Arg50=)
|
|
|
NM_002661.5(PLCG2):c.1524C>T (p.Asp508=)
|
rs2143649348
|
|
NM_002661.5(PLCG2):c.1551G>T (p.Val517=)
|
|
|
NM_002661.5(PLCG2):c.1557+8G>T
|
|
|
NM_002661.5(PLCG2):c.1558-12T>G
|
|
|
NM_002661.5(PLCG2):c.1558-13C>A
|
|
|
NM_002661.5(PLCG2):c.1558-15C>T
|
|
|
NM_002661.5(PLCG2):c.1572A>G (p.Thr524=)
|
|
|
NM_002661.5(PLCG2):c.1593A>G (p.Lys531=)
|
rs2143651329
|
|
NM_002661.5(PLCG2):c.1605G>A (p.Lys535=)
|
rs2143651358
|
|
NM_002661.5(PLCG2):c.1641G>C (p.Leu547=)
|
|
|
NM_002661.5(PLCG2):c.1686G>T (p.Leu562=)
|
rs748100966
|
|
NM_002661.5(PLCG2):c.168G>A (p.Lys56=)
|
|
|
NM_002661.5(PLCG2):c.1710C>G (p.Pro570=)
|
|
|
NM_002661.5(PLCG2):c.1723C>T (p.Leu575=)
|
|
|
NM_002661.5(PLCG2):c.1733+10C>A
|
rs1909481140
|
|
NM_002661.5(PLCG2):c.1733+12G>A
|
|
|
NM_002661.5(PLCG2):c.1733+17A>G
|
|
|
NM_002661.5(PLCG2):c.1733+7C>T
|
|
|
NM_002661.5(PLCG2):c.1734-12C>G
|
rs2143657293
|
|
NM_002661.5(PLCG2):c.1734-13C>A
|
rs1372444325
|
|
NM_002661.5(PLCG2):c.1734-16C>G
|
rs200892679
|
|
NM_002661.5(PLCG2):c.1734-16C>T
|
|
|
NM_002661.5(PLCG2):c.1734-19T>C
|
|
|
NM_002661.5(PLCG2):c.1734-4G>A
|
|
|
NM_002661.5(PLCG2):c.1782C>T (p.Gly594=)
|
|
|
NM_002661.5(PLCG2):c.1785G>C (p.Gly595=)
|
|
|
NM_002661.5(PLCG2):c.1791G>A (p.Leu597=)
|
rs1597125746
|
|
NM_002661.5(PLCG2):c.183C>A (p.Ile61=)
|
rs553657822
|
|
NM_002661.5(PLCG2):c.1848C>T (p.His616=)
|
|
|
NM_002661.5(PLCG2):c.1854C>G (p.Arg618=)
|
|
|
NM_002661.5(PLCG2):c.1860G>A (p.Thr620=)
|
|
|
NM_002661.5(PLCG2):c.1875C>G (p.Ala625=)
|
rs753539229
|
|
NM_002661.5(PLCG2):c.1887G>C (p.Leu629=)
|
rs1473233925
|
|
NM_002661.5(PLCG2):c.1908C>G (p.Pro636=)
|
|
|
NM_002661.5(PLCG2):c.1911C>T (p.Asn637=)
|
|
|
NM_002661.5(PLCG2):c.1914C>T (p.Pro638=)
|
|
|
NM_002661.5(PLCG2):c.1929C>G (p.Ser643=)
|
|
|
NM_002661.5(PLCG2):c.193+11G>A
|
|
|
NM_002661.5(PLCG2):c.193+7_193+13del
|
|
|
NM_002661.5(PLCG2):c.1934+12A>G
|
|
|
NM_002661.5(PLCG2):c.1934+14G>C
|
|
|
NM_002661.5(PLCG2):c.1934+14G>T
|
rs2143658117
|
|
NM_002661.5(PLCG2):c.1934+18G>A
|
|
|
NM_002661.5(PLCG2):c.1935-11C>T
|
|
|
NM_002661.5(PLCG2):c.1935-4G>T
|
|
|
NM_002661.5(PLCG2):c.194-16G>A
|
rs1906579099
|
|
NM_002661.5(PLCG2):c.194-19C>G
|
|
|
NM_002661.5(PLCG2):c.194-8C>T
|
|
|
NM_002661.5(PLCG2):c.194-9T>A
|
|
|
NM_002661.5(PLCG2):c.1940A>C (p.Tyr647Ser)
|
|
|
NM_002661.5(PLCG2):c.1951C>T (p.Leu651=)
|
|
|
NM_002661.5(PLCG2):c.1956C>T (p.Ser652=)
|
|
|
NM_002661.5(PLCG2):c.1959C>A (p.Arg653=)
|
rs117835631
|
|
NM_002661.5(PLCG2):c.2025G>A (p.Glu675=)
|
|
|
NM_002661.5(PLCG2):c.2054+11G>A
|
|
|
NM_002661.5(PLCG2):c.2054+15G>C
|
|
|
NM_002661.5(PLCG2):c.2054+19G>C
|
rs779992951
|
|
NM_002661.5(PLCG2):c.2054+20G>A
|
|
|
NM_002661.5(PLCG2):c.2055-4C>T
|
|
|
NM_002661.5(PLCG2):c.2055-8_2055-7inv
|
|
|
NM_002661.5(PLCG2):c.2061G>A (p.Arg687=)
|
|
|
NM_002661.5(PLCG2):c.2070A>G (p.Val690=)
|
rs1909974917
|
|
NM_002661.5(PLCG2):c.2100G>A (p.Arg700=)
|
rs866881497
|
|
NM_002661.5(PLCG2):c.2124C>G (p.Ala708=)
|
|
|
NM_002661.5(PLCG2):c.2137C>T (p.Leu713=)
|
|
|
NM_002661.5(PLCG2):c.2181A>G (p.Arg727=)
|
rs372269946
|
|
NM_002661.5(PLCG2):c.2202C>G (p.Pro734=)
|
rs200025641
|
|
NM_002661.5(PLCG2):c.2202C>T (p.Pro734=)
|
rs200025641
|
|
NM_002661.5(PLCG2):c.2205G>A (p.Val735=)
|
|
|
NM_002661.5(PLCG2):c.2208C>T (p.Thr736=)
|
|
|
NM_002661.5(PLCG2):c.2217C>G (p.Leu739=)
|
|
|
NM_002661.5(PLCG2):c.2235+10G>A
|
|
|
NM_002661.5(PLCG2):c.2235+20G>C
|
rs1296277574
|
|
NM_002661.5(PLCG2):c.2236-13T>A
|
|
|
NM_002661.5(PLCG2):c.2236-14C>A
|
|
|
NM_002661.5(PLCG2):c.2236-14C>T
|
rs12446127
|
|
NM_002661.5(PLCG2):c.2236-19T>C
|
|
|
NM_002661.5(PLCG2):c.225A>C (p.Pro75=)
|
rs1186480762
|
|
NM_002661.5(PLCG2):c.2280G>A (p.Val760=)
|
rs2143687030
|
|
NM_002661.5(PLCG2):c.228G>C (p.Gly76=)
|
|
|
NM_002661.5(PLCG2):c.2307+17C>G
|
rs1262361727
|
|
NM_002661.5(PLCG2):c.2307+8G>A
|
|
|
NM_002661.5(PLCG2):c.2308-14_2308-12del
|
|
|
NM_002661.5(PLCG2):c.2329C>T (p.Leu777=)
|
rs181588253
|
|
NM_002661.5(PLCG2):c.2346C>T (p.Ala782=)
|
rs1910140348
|
|
NM_002661.5(PLCG2):c.2358T>C (p.Asp786=)
|
|
|
NM_002661.5(PLCG2):c.2400C>T (p.Ser800=)
|
rs2143692724
|
|
NM_002661.5(PLCG2):c.2409C>G (p.Pro803=)
|
|
|
NM_002661.5(PLCG2):c.2409C>T (p.Pro803=)
|
|
|
NM_002661.5(PLCG2):c.2412G>A (p.Gly804=)
|
|
|
NM_002661.5(PLCG2):c.2418-19G>A
|
|
|
NM_002661.5(PLCG2):c.2418-20T>C
|
|
|
NM_002661.5(PLCG2):c.2418-4C>G
|
|
|
NM_002661.5(PLCG2):c.2418-5T>A
|
rs755966297
|
|
NM_002661.5(PLCG2):c.2418-6dup
|
rs2143701518
|
|
NM_002661.5(PLCG2):c.2433T>C (p.Tyr811=)
|
|
|
NM_002661.5(PLCG2):c.2514+11C>T
|
|
|
NM_002661.5(PLCG2):c.2514+16C>T
|
|
|
NM_002661.5(PLCG2):c.2514+7C>G
|
rs540522878
|
|
NM_002661.5(PLCG2):c.2514+8C>G
|
|
|
NM_002661.5(PLCG2):c.2538G>A (p.Gly846=)
|
|
|
NM_002661.5(PLCG2):c.2557T>C (p.Leu853=)
|
|
|
NM_002661.5(PLCG2):c.2559G>A (p.Leu853=)
|
|
|
NM_002661.5(PLCG2):c.2571C>T (p.Thr857=)
|
|
|
NM_002661.5(PLCG2):c.2581+10C>T
|
|
|
NM_002661.5(PLCG2):c.2581+12C>T
|
|
|
NM_002661.5(PLCG2):c.2581+8C>A
|
rs1910376596
|
|
NM_002661.5(PLCG2):c.2582-11C>G
|
rs774366659
|
|
NM_002661.5(PLCG2):c.2582-19C>T
|
|
|
NM_002661.5(PLCG2):c.2582-8del
|
|
|
NM_002661.5(PLCG2):c.264T>G (p.Val88=)
|
|
|
NM_002661.5(PLCG2):c.2667C>T (p.Ala889=)
|
rs1180023488
|
|
NM_002661.5(PLCG2):c.2739+9C>G
|
rs1191689801
|
|
NM_002661.5(PLCG2):c.273A>G (p.Lys91=)
|
|
|
NM_002661.5(PLCG2):c.2740-10C>T
|
|
|
NM_002661.5(PLCG2):c.2740-14T>C
|
rs2143721360
|
|
NM_002661.5(PLCG2):c.2740-15G>T
|
|
|
NM_002661.5(PLCG2):c.2740-16A>C
|
|
|
NM_002661.5(PLCG2):c.2740-19G>A
|
rs370318941
|
|
NM_002661.5(PLCG2):c.2740-19G>C
|
|
|
NM_002661.5(PLCG2):c.2757C>T (p.Tyr919=)
|
rs2143721411
|
|
NM_002661.5(PLCG2):c.2799G>C (p.Leu933=)
|
rs2143721467
|
|
NM_002661.5(PLCG2):c.27C>A (p.Ser9=)
|
rs772778136
|
|
NM_002661.5(PLCG2):c.2820C>T (p.Thr940=)
|
|
|
NM_002661.5(PLCG2):c.2829C>A (p.Thr943=)
|
rs2143721549
|
|
NM_002661.5(PLCG2):c.2835C>T (p.Asp945=)
|
|
|
NM_002661.5(PLCG2):c.2842+12C>T
|
rs763313210
|
|
NM_002661.5(PLCG2):c.2842+14dup
|
rs1910629971
|
|
NM_002661.5(PLCG2):c.2842+8C>G
|
|
|
NM_002661.5(PLCG2):c.2842+9_2842+12dup
|
rs774363796
|
|
NM_002661.5(PLCG2):c.2843-12C>A
|
|
|
NM_002661.5(PLCG2):c.2843-5T>C
|
|
|
NM_002661.5(PLCG2):c.2874T>C (p.Phe958=)
|
|
|
NM_002661.5(PLCG2):c.2880G>A (p.Glu960=)
|
|
|
NM_002661.5(PLCG2):c.2883G>A (p.Thr961=)
|
|
|
NM_002661.5(PLCG2):c.2886G>A (p.Lys962=)
|
|
|
NM_002661.5(PLCG2):c.291C>T (p.Thr97=)
|
|
|
NM_002661.5(PLCG2):c.295C>T (p.Leu99=)
|
|
|
NM_002661.5(PLCG2):c.2961A>C (p.Pro987=)
|
|
|
NM_002661.5(PLCG2):c.297A>C (p.Leu99=)
|
rs1143686
|
|
NM_002661.5(PLCG2):c.297A>T (p.Leu99=)
|
rs1143686
|
|
NM_002661.5(PLCG2):c.3010C>T (p.Leu1004=)
|
rs763777636
|
|
NM_002661.5(PLCG2):c.3012G>A (p.Leu1004=)
|
rs936251719
|
|
NM_002661.5(PLCG2):c.3012G>T (p.Leu1004=)
|
rs936251719
|
|
NM_002661.5(PLCG2):c.3042C>T (p.Phe1014=)
|
|
|
NM_002661.5(PLCG2):c.3052+13T>G
|
|
|
NM_002661.5(PLCG2):c.3052+14G>A
|
rs2143726778
|
|
NM_002661.5(PLCG2):c.3052+19T>C
|
|
|
NM_002661.5(PLCG2):c.3052+19T>G
|
|
|
NM_002661.5(PLCG2):c.3052+9C>G
|
|
|
NM_002661.5(PLCG2):c.3053-16T>C
|
|
|
NM_002661.5(PLCG2):c.3053-18G>T
|
|
|
NM_002661.5(PLCG2):c.3053-19C>A
|
rs202166689
|
|
NM_002661.5(PLCG2):c.3053-8C>A
|
rs1267501546
|
|
NM_002661.5(PLCG2):c.3057G>A (p.Lys1019=)
|
|
|
NM_002661.5(PLCG2):c.312C>T (p.Phe104=)
|
|
|
NM_002661.5(PLCG2):c.3132G>A (p.Arg1044=)
|
|
|
NM_002661.5(PLCG2):c.3141A>G (p.Lys1047=)
|
|
|
NM_002661.5(PLCG2):c.3159C>T (p.Pro1053=)
|
rs746561092
|
|
NM_002661.5(PLCG2):c.315C>T (p.Val105=)
|
|
|
NM_002661.5(PLCG2):c.3162G>A (p.Glu1054=)
|
|
|
NM_002661.5(PLCG2):c.3169A>C (p.Arg1057=)
|
|
|
NM_002661.5(PLCG2):c.3180G>C (p.Leu1060=)
|
|
|
NM_002661.5(PLCG2):c.3186G>T (p.Thr1062=)
|
rs750433397
|
|
NM_002661.5(PLCG2):c.3192A>C (p.Thr1064=)
|
rs200366770
|
|
NM_002661.5(PLCG2):c.3198+13C>T
|
|
|
NM_002661.5(PLCG2):c.3198+17C>G
|
rs41311270
|
|
NM_002661.5(PLCG2):c.3198+17C>T
|
|
|
NM_002661.5(PLCG2):c.3207T>C (p.Gly1069=)
|
|
|
NM_002661.5(PLCG2):c.3210T>G (p.Ala1070=)
|
rs1328164286
|
|
NM_002661.5(PLCG2):c.324G>A (p.Thr108=)
|
rs189282309
|
|
NM_002661.5(PLCG2):c.324G>C (p.Thr108=)
|
rs189282309
|
|
NM_002661.5(PLCG2):c.3261G>C (p.Val1087=)
|
rs368071289
|
|
NM_002661.5(PLCG2):c.3279G>A (p.Glu1093=)
|
rs767388199
|
|
NM_002661.5(PLCG2):c.3306G>T (p.Thr1102=)
|
rs372282607
|
|
NM_002661.5(PLCG2):c.3313+13C>A
|
rs372730927
|
|
NM_002661.5(PLCG2):c.3313+13C>T
|
rs372730927
|
|
NM_002661.5(PLCG2):c.3313+14C>G
|
rs747317331
|
|
NM_002661.5(PLCG2):c.3313+20C>T
|
|
|
NM_002661.5(PLCG2):c.3314-18G>A
|
rs2143736859
|
|
NM_002661.5(PLCG2):c.3314-19A>C
|
|
|
NM_002661.5(PLCG2):c.3314-20G>A
|
rs917297022
|
|
NM_002661.5(PLCG2):c.3314-4C>A
|
|
|
NM_002661.5(PLCG2):c.3327C>G (p.Leu1109=)
|
|
|
NM_002661.5(PLCG2):c.337+14T>C
|
|
|
NM_002661.5(PLCG2):c.337+15C>G
|
|
|
NM_002661.5(PLCG2):c.337+7G>A
|
|
|
NM_002661.5(PLCG2):c.338-18del
|
|
|
NM_002661.5(PLCG2):c.338-4C>A
|
rs1906784000
|
|
NM_002661.5(PLCG2):c.338-7A>G
|
|
|
NM_002661.5(PLCG2):c.338-9C>G
|
rs1191735406
|
|
NM_002661.5(PLCG2):c.3387G>C (p.Leu1129=)
|
rs765565271
|
|
NM_002661.5(PLCG2):c.3426C>T (p.Phe1142=)
|
|
|
NM_002661.5(PLCG2):c.3481+16A>C
|
|
|
NM_002661.5(PLCG2):c.3482-19C>G
|
|
|
NM_002661.5(PLCG2):c.3482-19C>T
|
rs1218224905
|
|
NM_002661.5(PLCG2):c.3482-7G>C
|
|
|
NM_002661.5(PLCG2):c.3501G>A (p.Leu1167=)
|
rs1911141888
|
|
NM_002661.5(PLCG2):c.3510G>A (p.Gly1170=)
|
|
|
NM_002661.5(PLCG2):c.3568C>T (p.Leu1190=)
|
|
|
NM_002661.5(PLCG2):c.3570+11A>C
|
rs2143754534
|
|
NM_002661.5(PLCG2):c.3570+12_3570+15dup
|
|
|
NM_002661.5(PLCG2):c.3570+17C>A
|
|
|
NM_002661.5(PLCG2):c.3570+17C>T
|
rs1274382064
|
|
NM_002661.5(PLCG2):c.3570+8G>A
|
rs1224360399
|
|
NM_002661.5(PLCG2):c.3571-4C>A
|
|
|
NM_002661.5(PLCG2):c.3571-5T>G
|
|
|
NM_002661.5(PLCG2):c.3571-6C>A
|
|
|
NM_002661.5(PLCG2):c.357A>C (p.Ala119=)
|
rs2143487391
|
|
NM_002661.5(PLCG2):c.3594C>A (p.Ser1198=)
|
|
|
NM_002661.5(PLCG2):c.3621A>G (p.Gln1207=)
|
|
|
NM_002661.5(PLCG2):c.3624A>G (p.Glu1208=)
|
|
|
NM_002661.5(PLCG2):c.3630G>A (p.Leu1210=)
|
|
|
NM_002661.5(PLCG2):c.3630G>C (p.Leu1210=)
|
rs774266268
|
|
NM_002661.5(PLCG2):c.3648G>C (p.Leu1216=)
|
|
|
NM_002661.5(PLCG2):c.3691C>T (p.Leu1231=)
|
rs1911588700
|
|
NM_002661.5(PLCG2):c.3705C>T (p.Phe1235=)
|
rs1414406167
|
|
NM_002661.5(PLCG2):c.3730C>T (p.Leu1244=)
|
|
|
NM_002661.5(PLCG2):c.3738G>A (p.Gln1246=)
|
rs912000542
|
|
NM_002661.5(PLCG2):c.3755+11C>T
|
|
|
NM_002661.5(PLCG2):c.3755+13C>T
|
|
|
NM_002661.5(PLCG2):c.3755+14T>C
|
|
|
NM_002661.5(PLCG2):c.3755+16C>T
|
|
|
NM_002661.5(PLCG2):c.3755+17A>G
|
|
|
NM_002661.5(PLCG2):c.3755+7C>G
|
rs2143781174
|
|
NM_002661.5(PLCG2):c.3756-14del
|
rs2143784232
|
|
NM_002661.5(PLCG2):c.3756-20T>A
|
rs762802134
|
|
NM_002661.5(PLCG2):c.3756-8T>C
|
|
|
NM_002661.5(PLCG2):c.399G>T (p.Ala133=)
|
rs542562241
|
|
NM_002661.5(PLCG2):c.405T>C (p.Asn135=)
|
|
|
NM_002661.5(PLCG2):c.414G>C (p.Thr138=)
|
rs781285726
|
|
NM_002661.5(PLCG2):c.420C>G (p.Thr140=)
|
|
|
NM_002661.5(PLCG2):c.426C>T (p.Ile142=)
|
|
|
NM_002661.5(PLCG2):c.42G>A (p.Glu14=)
|
|
|
NM_002661.5(PLCG2):c.431+20T>A
|
|
|
NM_002661.5(PLCG2):c.432-13_432-12delinsAC
|
rs2143490754
|
|
NM_002661.5(PLCG2):c.432-15C>G
|
|
|
NM_002661.5(PLCG2):c.432-17C>T
|
|
|
NM_002661.5(PLCG2):c.432-19G>C
|
rs1906832456
|
|
NM_002661.5(PLCG2):c.432-20T>C
|
|
|
NM_002661.5(PLCG2):c.432-7T>C
|
|
|
NM_002661.5(PLCG2):c.479+10A>T
|
rs772595067
|
|
NM_002661.5(PLCG2):c.479+17T>A
|
|
|
NM_002661.5(PLCG2):c.479+7G>C
|
|
|
NM_002661.5(PLCG2):c.480-10T>C
|
|
|
NM_002661.5(PLCG2):c.480-18G>C
|
rs769635408
|
|
NM_002661.5(PLCG2):c.48C>T (p.Ser16=)
|
|
|
NM_002661.5(PLCG2):c.496T>C (p.Leu166=)
|
|
|
NM_002661.5(PLCG2):c.504C>T (p.Thr168=)
|
rs759752251
|
|
NM_002661.5(PLCG2):c.510G>A (p.Leu170=)
|
|
|
NM_002661.5(PLCG2):c.516G>C (p.Leu172=)
|
|
|
NM_002661.5(PLCG2):c.540C>G (p.Ala180=)
|
rs150276286
|
|
NM_002661.5(PLCG2):c.540C>T (p.Ala180=)
|
rs150276286
|
|
NM_002661.5(PLCG2):c.564+10A>G
|
rs1597364436
|
|
NM_002661.5(PLCG2):c.564+13G>T
|
|
|
NM_002661.5(PLCG2):c.565-11C>A
|
|
|
NM_002661.5(PLCG2):c.565-12T>C
|
|
|
NM_002661.5(PLCG2):c.565-20C>T
|
|
|
NM_002661.5(PLCG2):c.565-8A>G
|
|
|
NM_002661.5(PLCG2):c.627T>C (p.Leu209=)
|
rs374983573
|
|
NM_002661.5(PLCG2):c.63C>T (p.Ala21=)
|
|
|
NM_002661.5(PLCG2):c.648+18C>G
|
|
|
NM_002661.5(PLCG2):c.649-18G>A
|
|
|
NM_002661.5(PLCG2):c.649-18G>C
|
rs763743997
|
|
NM_002661.5(PLCG2):c.654C>G (p.Leu218=)
|
rs780503141
|
|
NM_002661.5(PLCG2):c.666A>G (p.Lys222=)
|
rs1427948230
|
|
NM_002661.5(PLCG2):c.675G>C (p.Ser225=)
|
|
|
NM_002661.5(PLCG2):c.687C>T (p.Ile229=)
|
|
|
NM_002661.5(PLCG2):c.692+10C>G
|
|
|
NM_002661.5(PLCG2):c.692+12C>T
|
|
|
NM_002661.5(PLCG2):c.692+13T>C
|
|
|
NM_002661.5(PLCG2):c.692+15G>C
|
|
|
NM_002661.5(PLCG2):c.692+17_692+20del
|
|
|
NM_002661.5(PLCG2):c.693-12C>T
|
|
|
NM_002661.5(PLCG2):c.693-9C>T
|
|
|
NM_002661.5(PLCG2):c.696C>T (p.Asn232=)
|
|
|
NM_002661.5(PLCG2):c.727C>T (p.Leu243=)
|
|
|
NM_002661.5(PLCG2):c.741G>A (p.Gln247=)
|
rs778931758
|
|
NM_002661.5(PLCG2):c.75G>T (p.Gly25=)
|
|
|
NM_002661.5(PLCG2):c.765+11A>T
|
|
|
NM_002661.5(PLCG2):c.765+13G>T
|
|
|
NM_002661.5(PLCG2):c.765+9A>G
|
|
|
NM_002661.5(PLCG2):c.766-15_766-14del
|
|
|
NM_002661.5(PLCG2):c.766-17C>G
|
|
|
NM_002661.5(PLCG2):c.786G>C (p.Leu262=)
|
rs2143595211
|
|
NM_002661.5(PLCG2):c.78G>A (p.Thr26=)
|
|
|
NM_002661.5(PLCG2):c.78G>C (p.Thr26=)
|
rs749437141
|
|
NM_002661.5(PLCG2):c.816C>T (p.Phe272=)
|
|
|
NM_002661.5(PLCG2):c.867+11T>G
|
|
|
NM_002661.5(PLCG2):c.867+18G>A
|
|
|
NM_002661.5(PLCG2):c.867+9G>C
|
rs1908520769
|
|
NM_002661.5(PLCG2):c.868-20T>C
|
|
|
NM_002661.5(PLCG2):c.868-20T>G
|
rs1407061536
|
|
NM_002661.5(PLCG2):c.876G>T (p.Thr292=)
|
rs375222873
|
|
NM_002661.5(PLCG2):c.891A>G (p.Arg297=)
|
rs1908632980
|
|
NM_002661.5(PLCG2):c.900C>T (p.Ser300=)
|
rs1426756781
|
|
NM_002661.5(PLCG2):c.90G>C (p.Val30=)
|
rs1910956850
|
|
NM_002661.5(PLCG2):c.918T>C (p.Tyr306=)
|
|
|
NM_002661.5(PLCG2):c.924G>A (p.Ala308=)
|
|
|
NM_002661.5(PLCG2):c.930C>T (p.Asp310=)
|
|
|
NM_002661.5(PLCG2):c.957T>C (p.Ser319=)
|
rs527737546
|
|
NM_002661.5(PLCG2):c.987-18C>A
|
rs763816323
|
|
NM_002661.5(PLCG2):c.987-18C>T
|
|
|
NM_002661.5(PLCG2):c.987-19C>T
|
rs762512676
|
|
NM_002661.5(PLCG2):c.987-5T>C
|
|
|
NM_002834.5(PTPN11):c.519C>G (p.Arg173=)
|
rs767425313
|
|
NM_003036.4(SKI):c.1025A>T (p.Gln342Leu)
|
rs377336741
|
|
NM_003036.4(SKI):c.1035G>A (p.Ala345=)
|
|
|
NM_003036.4(SKI):c.1041C>G (p.Ser347=)
|
|
|
NM_003036.4(SKI):c.1056G>A (p.Pro352=)
|
|
|
NM_003036.4(SKI):c.1057T>C (p.Ser353Pro)
|
|
|
NM_003036.4(SKI):c.1068G>T (p.Leu356=)
|
rs1057523408
|
|
NM_003036.4(SKI):c.1095+10G>A
|
|
|
NM_003036.4(SKI):c.1095+11G>A
|
|
|
NM_003036.4(SKI):c.1095+17C>T
|
|
|
NM_003036.4(SKI):c.1095+20G>T
|
|
|
NM_003036.4(SKI):c.1101G>T (p.Leu367=)
|
rs1411024116
|
|
NM_003036.4(SKI):c.1104C>T (p.Gly368=)
|
|
|
NM_003036.4(SKI):c.111T>C (p.Ala37=)
|
rs2100789581
|
|
NM_003036.4(SKI):c.1125C>A (p.Arg375=)
|
|
|
NM_003036.4(SKI):c.1128C>A (p.Leu376=)
|
|
|
NM_003036.4(SKI):c.1149C>G (p.Ser383=)
|
|
|
NM_003036.4(SKI):c.1152C>G (p.Pro384=)
|
rs200160702
|
|
NM_003036.4(SKI):c.117G>C (p.Ser39=)
|
|
|
NM_003036.4(SKI):c.1185A>G (p.Pro395=)
|
|
|
NM_003036.4(SKI):c.1194G>A (p.Pro398=)
|
|
|
NM_003036.4(SKI):c.1205G>A (p.Arg402Gln)
|
rs557289756
|
|
NM_003036.4(SKI):c.1211+8G>C
|
rs1411361590
|
|
NM_003036.4(SKI):c.1211+9G>T
|
|
|
NM_003036.4(SKI):c.1212-16C>T
|
|
|
NM_003036.4(SKI):c.1212-6C>T
|
rs752765206
|
|
NM_003036.4(SKI):c.1212-7C>T
|
|
|
NM_003036.4(SKI):c.1230C>T (p.Ser410=)
|
|
|
NM_003036.4(SKI):c.123C>T (p.Arg41=)
|
|
|
NM_003036.4(SKI):c.1248G>A (p.Ala416=)
|
rs768317594
|
|
NM_003036.4(SKI):c.1248G>T (p.Ala416=)
|
|
|
NM_003036.4(SKI):c.1293C>T (p.Ser431=)
|
rs2100918389
|
|
NM_003036.4(SKI):c.1308C>A (p.Ala436=)
|
|
|
NM_003036.4(SKI):c.1308C>G (p.Ala436=)
|
rs139034124
|
|
NM_003036.4(SKI):c.1311C>T (p.Ala437=)
|
rs140889128
|
|
NM_003036.4(SKI):c.1325C>T (p.Ala442Val)
|
|
|
NM_003036.4(SKI):c.1326C>T (p.Ala442=)
|
|
|
NM_003036.4(SKI):c.1350C>T (p.Thr450=)
|
|
|
NM_003036.4(SKI):c.138C>G (p.Ala46=)
|
rs745527890
|
|
NM_003036.4(SKI):c.1410C>A (p.Pro470=)
|
|
|
NM_003036.4(SKI):c.1419C>T (p.Ala473=)
|
rs748183781
|
|
NM_003036.4(SKI):c.1449G>A (p.Glu483=)
|
|
|
NM_003036.4(SKI):c.144G>A (p.Lys48=)
|
|
|
NM_003036.4(SKI):c.1474+14G>A
|
rs780072344
|
|
NM_003036.4(SKI):c.1474+19C>G
|
rs2100919153
|
|
NM_003036.4(SKI):c.1474+7del
|
rs1640502180
|
|
NM_003036.4(SKI):c.1475-17C>T
|
|
|
NM_003036.4(SKI):c.1479C>T (p.Thr493=)
|
rs754922214
|
|
NM_003036.4(SKI):c.1482C>T (p.Ser494=)
|
|
|
NM_003036.4(SKI):c.1514C>T (p.Thr505Ile)
|
|
|
NM_003036.4(SKI):c.1528G>T (p.Ala510Ser)
|
|
|
NM_003036.4(SKI):c.1539G>T (p.Leu513=)
|
|
|
NM_003036.4(SKI):c.1566C>G (p.Pro522=)
|
|
|
NM_003036.4(SKI):c.1569G>C (p.Ser523=)
|
rs767052019
|
|
NM_003036.4(SKI):c.1582G>C (p.Ala528Pro)
|
|
|
NM_003036.4(SKI):c.1587G>C (p.Ala529=)
|
rs542301067
|
|
NM_003036.4(SKI):c.1601C>T (p.Ala534Val)
|
|
|
NM_003036.4(SKI):c.1647G>C (p.Leu549=)
|
|
|
NM_003036.4(SKI):c.1653C>T (p.Gly551=)
|
|
|
NM_003036.4(SKI):c.1677A>G (p.Lys559=)
|
rs1569862103
|
|
NM_003036.4(SKI):c.1686C>T (p.Phe562=)
|
|
|
NM_003036.4(SKI):c.1710C>A (p.Arg570=)
|
|
|
NM_003036.4(SKI):c.1715A>G (p.Lys572Arg)
|
|
|
NM_003036.4(SKI):c.1728G>A (p.Lys576=)
|
|
|
NM_003036.4(SKI):c.1767+8G>A
|
rs755258323
|
|
NM_003036.4(SKI):c.1768-20G>T
|
rs375518657
|
|
NM_003036.4(SKI):c.1768-4C>G
|
|
|
NM_003036.4(SKI):c.1768-8G>T
|
|
|
NM_003036.4(SKI):c.1785C>G (p.Arg595=)
|
|
|
NM_003036.4(SKI):c.1818G>A (p.Thr606=)
|
rs377110260
|
|
NM_003036.4(SKI):c.1827G>A (p.Lys609=)
|
rs1324710541
|
|
NM_003036.4(SKI):c.183G>C (p.Pro61=)
|
rs774187595
|
|
NM_003036.4(SKI):c.183G>T (p.Pro61=)
|
|
|
NM_003036.4(SKI):c.1848C>A (p.Ile616=)
|
rs1044806468
|
|
NM_003036.4(SKI):c.1863C>T (p.Ala621=)
|
rs200702159
|
|
NM_003036.4(SKI):c.1887G>A (p.Glu629=)
|
rs771953750
|
|
NM_003036.4(SKI):c.1890C>A (p.Ala630=)
|
rs773151547
|
|
NM_003036.4(SKI):c.1890C>T (p.Ala630=)
|
rs773151547
|
|
NM_003036.4(SKI):c.189G>A (p.Pro63=)
|
|
|
NM_003036.4(SKI):c.1913A>G (p.Lys638Arg)
|
|
|
NM_003036.4(SKI):c.1923G>T (p.Leu641=)
|
rs199666240
|
|
NM_003036.4(SKI):c.1932G>A (p.Ala644=)
|
rs1057521646
|
|
NM_003036.4(SKI):c.1965G>A (p.Glu655=)
|
rs1475570086
|
|
NM_003036.4(SKI):c.1971C>T (p.Gly657=)
|
rs878854598
|
|
NM_003036.4(SKI):c.1977G>A (p.Leu659=)
|
rs1298626276
|
|
NM_003036.4(SKI):c.1981G>A (p.Ala661Thr)
|
|
|
NM_003036.4(SKI):c.1983C>T (p.Ala661=)
|
rs973734662
|
|
NM_003036.4(SKI):c.1998+10T>C
|
|
|
NM_003036.4(SKI):c.1999-12G>T
|
|
|
NM_003036.4(SKI):c.1999-14C>G
|
|
|
NM_003036.4(SKI):c.1999-14C>T
|
|
|
NM_003036.4(SKI):c.1999-7C>T
|
|
|
NM_003036.4(SKI):c.1999-9C>G
|
rs369496789
|
|
NM_003036.4(SKI):c.2007C>G (p.Asp669Glu)
|
rs750838146
|
|
NM_003036.4(SKI):c.2007C>T (p.Asp669=)
|
rs750838146
|
|
NM_003036.4(SKI):c.200C>T (p.Ala67Val)
|
|
|
NM_003036.4(SKI):c.2043G>C (p.Arg681=)
|
rs2100925770
|
|
NM_003036.4(SKI):c.2061C>T (p.Asp687=)
|
|
|
NM_003036.4(SKI):c.2067G>A (p.Leu689=)
|
|
|
NM_003036.4(SKI):c.2069G>A (p.Arg690Gln)
|
|
|
NM_003036.4(SKI):c.207G>A (p.Glu69=)
|
|
|
NM_003036.4(SKI):c.2082C>T (p.Ala694=)
|
|
|
NM_003036.4(SKI):c.2091C>T (p.His697=)
|
rs1487847272
|
|
NM_003036.4(SKI):c.2103G>A (p.Val701=)
|
|
|
NM_003036.4(SKI):c.2109G>A (p.Lys703=)
|
|
|
NM_003036.4(SKI):c.2112_2113delinsAT (p.Glu704_Leu705=)
|
rs2100925995
|
|
NM_003036.4(SKI):c.2139C>T (p.Ala713=)
|
|
|
NM_003036.4(SKI):c.2142C>T (p.Arg714=)
|
rs1569868248
|
|
NM_003036.4(SKI):c.2153C>T (p.Ala718Val)
|
|
|
NM_003036.4(SKI):c.2166C>T (p.Gly722=)
|
|
|
NM_003036.4(SKI):c.2169T>G (p.Ala723=)
|
|
|
NM_003036.4(SKI):c.2172G>C (p.Ala724=)
|
rs879070309
|
|
NM_003036.4(SKI):c.2175G>A (p.Glu725=)
|
rs1381348497
|
|
NM_003036.4(SKI):c.2184G>A (p.Pro728=)
|
|
|
NM_003036.4(SKI):c.225C>T (p.His75=)
|
rs1553189880
|
|
NM_003036.4(SKI):c.228G>A (p.Leu76=)
|
rs1297091418
|
|
NM_003036.4(SKI):c.231C>T (p.Pro77=)
|
rs1638568541
|
|
NM_003036.4(SKI):c.237C>G (p.Ile79Met)
|
|
|
NM_003036.4(SKI):c.261C>A (p.Pro87=)
|
rs1257107710
|
|
NM_003036.4(SKI):c.267C>T (p.Pro89=)
|
|
|
NM_003036.4(SKI):c.270C>T (p.Phe90=)
|
rs1436770788
|
|
NM_003036.4(SKI):c.279G>A (p.Pro93=)
|
rs1638570161
|
|
NM_003036.4(SKI):c.27C>A (p.Gly9=)
|
rs1476360335
|
|
NM_003036.4(SKI):c.282C>G (p.Ser94=)
|
|
|
NM_003036.4(SKI):c.312A>G (p.Val104=)
|
rs368195821
|
|
NM_003036.4(SKI):c.313C>T (p.Leu105=)
|
|
|
NM_003036.4(SKI):c.318A>G (p.Glu106=)
|
rs564817940
|
|
NM_003036.4(SKI):c.342G>T (p.Val114=)
|
rs1057523880
|
|
NM_003036.4(SKI):c.351C>T (p.Gly117=)
|
rs781703488
|
|
NM_003036.4(SKI):c.360C>A (p.Arg120=)
|
|
|
NM_003036.4(SKI):c.381C>T (p.Leu127=)
|
rs371497152
|
|
NM_003036.4(SKI):c.399C>T (p.Asp133=)
|
rs937379586
|
|
NM_003036.4(SKI):c.405_406delinsTT (p.Ser135_Leu136=)
|
rs2100790167
|
|
NM_003036.4(SKI):c.417C>A (p.Ile139=)
|
rs144874401
|
|
NM_003036.4(SKI):c.420C>T (p.Asn140=)
|
rs1013962872
|
|
NM_003036.4(SKI):c.423G>C (p.Ala141=)
|
|
|
NM_003036.4(SKI):c.444C>T (p.Ile148=)
|
rs1391345174
|
|
NM_003036.4(SKI):c.453G>A (p.Ser151=)
|
|
|
NM_003036.4(SKI):c.468C>T (p.Asp156=)
|
|
|
NM_003036.4(SKI):c.489C>T (p.Val163=)
|
rs373291824
|
|
NM_003036.4(SKI):c.48G>A (p.Gly16=)
|
|
|
NM_003036.4(SKI):c.516C>G (p.Pro172=)
|
rs182513685
|
|
NM_003036.4(SKI):c.51G>A (p.Leu17=)
|
rs763997001
|
|
NM_003036.4(SKI):c.522C>T (p.Cys174=)
|
|
|
NM_003036.4(SKI):c.525G>A (p.Gly175=)
|
|
|
NM_003036.4(SKI):c.525G>T (p.Gly175=)
|
|
|
NM_003036.4(SKI):c.528C>T (p.Leu176=)
|
|
|
NM_003036.4(SKI):c.531C>T (p.Ile177=)
|
rs1286351303
|
|
NM_003036.4(SKI):c.540G>C (p.Thr180=)
|
|
|
NM_003036.4(SKI):c.570C>T (p.Leu190=)
|
rs1253539827
|
|
NM_003036.4(SKI):c.57G>A (p.Lys19=)
|
|
|
NM_003036.4(SKI):c.581C>A (p.Ala194Asp)
|
rs746882046
|
|
NM_003036.4(SKI):c.584A>T (p.Tyr195Phe)
|
rs1474048036
|
|
NM_003036.4(SKI):c.585C>T (p.Tyr195=)
|
|
|
NM_003036.4(SKI):c.612C>T (p.Ala204=)
|
rs2100790564
|
|
NM_003036.4(SKI):c.631C>T (p.Leu211=)
|
|
|
NM_003036.4(SKI):c.636G>A (p.Glu212=)
|
rs1461255065
|
|
NM_003036.4(SKI):c.654C>T (p.Val218=)
|
|
|
NM_003036.4(SKI):c.657C>T (p.Arg219=)
|
|
|
NM_003036.4(SKI):c.672C>T (p.Cys224=)
|
|
|
NM_003036.4(SKI):c.714C>T (p.Ser238=)
|
rs1569660010
|
|
NM_003036.4(SKI):c.717C>T (p.Ser239=)
|
|
|
NM_003036.4(SKI):c.720G>A (p.Pro240=)
|
rs1569660069
|
|
NM_003036.4(SKI):c.729C>T (p.Ala243=)
|
|
|
NM_003036.4(SKI):c.742C>T (p.Leu248=)
|
|
|
NM_003036.4(SKI):c.765G>C (p.Pro255=)
|
|
|
NM_003036.4(SKI):c.768G>A (p.Pro256=)
|
rs1057521232
|
|
NM_003036.4(SKI):c.768G>T (p.Pro256=)
|
|
|
NM_003036.4(SKI):c.777C>T (p.Phe259=)
|
rs2100790901
|
|
NM_003036.4(SKI):c.780G>A (p.Val260=)
|
|
|
NM_003036.4(SKI):c.786C>T (p.His262=)
|
|
|
NM_003036.4(SKI):c.789G>T (p.Ser263=)
|
|
|
NM_003036.4(SKI):c.828C>T (p.Phe276=)
|
|
|
NM_003036.4(SKI):c.840C>T (p.Asn280=)
|
rs1423154745
|
|
NM_003036.4(SKI):c.84C>T (p.Ser28=)
|
|
|
NM_003036.4(SKI):c.858G>A (p.Leu286=)
|
|
|
NM_003036.4(SKI):c.867G>A (p.Gln289=)
|
|
|
NM_003036.4(SKI):c.903C>T (p.Gly301=)
|
|
|
NM_003036.4(SKI):c.915C>T (p.Asp305=)
|
rs900879745
|
|
NM_003036.4(SKI):c.921G>A (p.Val307=)
|
|
|
NM_003036.4(SKI):c.924G>A (p.Lys308=)
|
|
|
NM_003036.4(SKI):c.951C>T (p.Tyr317=)
|
|
|
NM_003036.4(SKI):c.963G>T (p.Val321=)
|
|
|
NM_003036.4(SKI):c.969+10C>T
|
|
|
NM_003036.4(SKI):c.970-13dup
|
|
|
NM_003036.4(SKI):c.970-19A>G
|
|
|
NM_003036.4(SKI):c.970-4G>A
|
|
|
NM_003036.4(SKI):c.987G>C (p.Pro329=)
|
|
|
NM_003036.4(SKI):c.99C>T (p.Gly33=)
|
|
|
NM_003036.4(SKI):c.9G>C (p.Ala3=)
|
|
|
NM_003183.6(ADAM17):c.1014C>T (p.Phe338=)
|
|
|
NM_003183.6(ADAM17):c.102G>A (p.Lys34=)
|
rs1029893851
|
|
NM_003183.6(ADAM17):c.1103-12T>C
|
|
|
NM_003183.6(ADAM17):c.1103-20_1103-19del
|
|
|
NM_003183.6(ADAM17):c.1110T>C (p.Tyr370=)
|
|
|
NM_003183.6(ADAM17):c.1131T>C (p.Asn377=)
|
rs2125017707
|
|
NM_003183.6(ADAM17):c.1143T>C (p.Asn381=)
|
|
|
NM_003183.6(ADAM17):c.1146T>C (p.Ser382=)
|
|
|
NM_003183.6(ADAM17):c.1191+19A>G
|
|
|
NM_003183.6(ADAM17):c.1191+20A>G
|
|
|
NM_003183.6(ADAM17):c.1191+8C>T
|
rs1407294788
|
|
NM_003183.6(ADAM17):c.1192-12A>G
|
|
|
NM_003183.6(ADAM17):c.1192-14G>T
|
|
|
NM_003183.6(ADAM17):c.1192-20T>G
|
|
|
NM_003183.6(ADAM17):c.1192-5dup
|
rs374848572
|
|
NM_003183.6(ADAM17):c.1192-6C>T
|
rs1663651943
|
|
NM_003183.6(ADAM17):c.1230T>C (p.Asn410=)
|
|
|
NM_003183.6(ADAM17):c.1239A>T (p.Ala413=)
|
|
|
NM_003183.6(ADAM17):c.1251G>A (p.Pro417=)
|
|
|
NM_003183.6(ADAM17):c.1284C>T (p.Asp428=)
|
|
|
NM_003183.6(ADAM17):c.1344+12T>G
|
|
|
NM_003183.6(ADAM17):c.1344+13C>T
|
rs1332196544
|
|
NM_003183.6(ADAM17):c.1365A>G (p.Lys455=)
|
rs2124999329
|
|
NM_003183.6(ADAM17):c.139T>C (p.Leu47=)
|
rs2125040844
|
|
NM_003183.6(ADAM17):c.1401G>A (p.Gln467=)
|
|
|
NM_003183.6(ADAM17):c.141A>G (p.Leu47=)
|
|
|
NM_003183.6(ADAM17):c.1476C>T (p.Gly492=)
|
rs2124999133
|
|
NM_003183.6(ADAM17):c.1494C>T (p.Asn498=)
|
|
|
NM_003183.6(ADAM17):c.1521G>A (p.Thr507=)
|
|
|
NM_003183.6(ADAM17):c.1530A>G (p.Glu510=)
|
|
|
NM_003183.6(ADAM17):c.1545-14C>A
|
rs2124991072
|
|
NM_003183.6(ADAM17):c.1545-7_1545-5del
|
rs372560151
|
|
NM_003183.6(ADAM17):c.1572C>T (p.Asn524=)
|
rs1663048540
|
|
NM_003183.6(ADAM17):c.1649-3del
|
|
|
NM_003183.6(ADAM17):c.1649-4C>G
|
|
|
NM_003183.6(ADAM17):c.165A>T (p.Val55=)
|
rs1572957857
|
|
NM_003183.6(ADAM17):c.1677A>C (p.Gly559=)
|
|
|
NM_003183.6(ADAM17):c.1695T>A (p.Thr565=)
|
|
|
NM_003183.6(ADAM17):c.1701C>T (p.Cys567=)
|
|
|
NM_003183.6(ADAM17):c.1783+8del
|
rs749034410
|
|
NM_003183.6(ADAM17):c.1784-16G>A
|
|
|
NM_003183.6(ADAM17):c.1784-17C>T
|
|
|
NM_003183.6(ADAM17):c.1784-20A>G
|
|
|
NM_003183.6(ADAM17):c.1784-4C>A
|
rs1223292324
|
|
NM_003183.6(ADAM17):c.180A>T (p.Leu60=)
|
|
|
NM_003183.6(ADAM17):c.1830C>T (p.Arg610=)
|
rs1572880905
|
|
NM_003183.6(ADAM17):c.1839C>T (p.Pro613=)
|
|
|
NM_003183.6(ADAM17):c.1845C>T (p.Val615=)
|
|
|
NM_003183.6(ADAM17):c.1851T>C (p.Ala617=)
|
rs1283515986
|
|
NM_003183.6(ADAM17):c.1902T>C (p.Phe634=)
|
|
|
NM_003183.6(ADAM17):c.1908C>T (p.Asp636=)
|
|
|
NM_003183.6(ADAM17):c.1914+12T>G
|
|
|
NM_003183.6(ADAM17):c.1914+13G>T
|
|
|
NM_003183.6(ADAM17):c.1914+14T>G
|
|
|
NM_003183.6(ADAM17):c.1915-15_1915-14insA
|
|
|
NM_003183.6(ADAM17):c.1915-17_1915-14del
|
|
|
NM_003183.6(ADAM17):c.1915-21ATGT[3]
|
|
|
NM_003183.6(ADAM17):c.1971C>T (p.Asp657=)
|
|
|
NM_003183.6(ADAM17):c.1980C>T (p.Ser660=)
|
|
|
NM_003183.6(ADAM17):c.1983C>T (p.Ile661=)
|
rs2124963286
|
|
NM_003183.6(ADAM17):c.2010C>T (p.Asp670=)
|
rs2124960239
|
|
NM_003183.6(ADAM17):c.2019T>C (p.Val673=)
|
|
|
NM_003183.6(ADAM17):c.2025T>C (p.Ser675=)
|
|
|
NM_003183.6(ADAM17):c.2028C>T (p.Val676=)
|
rs2124960152
|
|
NM_003183.6(ADAM17):c.2043G>A (p.Leu681=)
|
rs910439656
|
|
NM_003183.6(ADAM17):c.2049T>C (p.Phe683=)
|
|
|
NM_003183.6(ADAM17):c.2082+10C>T
|
rs1032188904
|
|
NM_003183.6(ADAM17):c.2082+12A>C
|
|
|
NM_003183.6(ADAM17):c.2082+20G>A
|
rs2124959947
|
|
NM_003183.6(ADAM17):c.2083-12G>C
|
rs994701272
|
|
NM_003183.6(ADAM17):c.2083-12_2083-11del
|
|
|
NM_003183.6(ADAM17):c.2083-18_2083-16del
|
|
|
NM_003183.6(ADAM17):c.208C>T (p.Leu70=)
|
|
|
NM_003183.6(ADAM17):c.2121G>C (p.Leu707=)
|
|
|
NM_003183.6(ADAM17):c.2133+8T>C
|
|
|
NM_003183.6(ADAM17):c.2133+9A>G
|
rs2124952025
|
|
NM_003183.6(ADAM17):c.2134-23_2134-20del
|
rs761385025
|
|
NM_003183.6(ADAM17):c.2134-27CAAT[3]
|
rs761385025
|
|
NM_003183.6(ADAM17):c.2136C>T (p.Asn712=)
|
|
|
NM_003183.6(ADAM17):c.2169G>A (p.Ser723=)
|
rs1016756984
|
|
NM_003183.6(ADAM17):c.2169G>C (p.Ser723=)
|
rs1016756984
|
|
NM_003183.6(ADAM17):c.2223T>C (p.Pro741=)
|
rs200268337
|
|
NM_003183.6(ADAM17):c.2241G>A (p.Ser747=)
|
|
|
NM_003183.6(ADAM17):c.2256A>C (p.Pro752=)
|
|
|
NM_003183.6(ADAM17):c.228A>G (p.Lys76=)
|
|
|
NM_003183.6(ADAM17):c.2358C>T (p.Ser786=)
|
rs2124948113
|
|
NM_003183.6(ADAM17):c.2397G>A (p.Pro799=)
|
|
|
NM_003183.6(ADAM17):c.258T>C (p.Ser86=)
|
|
|
NM_003183.6(ADAM17):c.276A>G (p.Gln92=)
|
rs1293860750
|
|
NM_003183.6(ADAM17):c.27C>A (p.Thr9=)
|
rs757690124
|
|
NM_003183.6(ADAM17):c.27C>T (p.Thr9=)
|
rs757690124
|
|
NM_003183.6(ADAM17):c.288C>G (p.Val96=)
|
|
|
NM_003183.6(ADAM17):c.315C>T (p.Ser105=)
|
rs552799044
|
|
NM_003183.6(ADAM17):c.361+13C>G
|
|
|
NM_003183.6(ADAM17):c.361+16G>T
|
rs2125035383
|
|
NM_003183.6(ADAM17):c.361+17T>C
|
rs191183953
|
|
NM_003183.6(ADAM17):c.361+19G>C
|
|
|
NM_003183.6(ADAM17):c.362-16T>C
|
|
|
NM_003183.6(ADAM17):c.362-18T>C
|
|
|
NM_003183.6(ADAM17):c.362-19A>C
|
rs565512166
|
|
NM_003183.6(ADAM17):c.362-19A>T
|
rs565512166
|
|
NM_003183.6(ADAM17):c.362-9del
|
rs769247529
|
|
NM_003183.6(ADAM17):c.435C>T (p.Ala145=)
|
rs143124556
|
|
NM_003183.6(ADAM17):c.450+17A>G
|
rs751518092
|
|
NM_003183.6(ADAM17):c.558T>C (p.Tyr186=)
|
|
|
NM_003183.6(ADAM17):c.567G>A (p.Val189=)
|
rs776034976
|
|
NM_003183.6(ADAM17):c.60T>G (p.Pro20=)
|
|
|
NM_003183.6(ADAM17):c.619+14A>C
|
|
|
NM_003183.6(ADAM17):c.620-5A>G
|
|
|
NM_003183.6(ADAM17):c.672G>A (p.Thr224=)
|
rs757777916
|
|
NM_003183.6(ADAM17):c.678A>G (p.Lys226=)
|
|
|
NM_003183.6(ADAM17):c.72G>A (p.Pro24=)
|
rs1476481051
|
|
NM_003183.6(ADAM17):c.754-20T>C
|
|
|
NM_003183.6(ADAM17):c.754-21_754-20del
|
rs1558514870
|
|
NM_003183.6(ADAM17):c.754-4A>G
|
rs2125023433
|
|
NM_003183.6(ADAM17):c.843+10A>T
|
|
|
NM_003183.6(ADAM17):c.843+11A>G
|
|
|
NM_003183.6(ADAM17):c.843+15A>T
|
|
|
NM_003183.6(ADAM17):c.844-17_844-16delinsTT
|
rs2125021221
|
|
NM_003183.6(ADAM17):c.844-4A>G
|
|
|
NM_003183.6(ADAM17):c.867A>G (p.Gln289=)
|
rs1553363787
|
|
NM_003183.6(ADAM17):c.870G>A (p.Glu290=)
|
|
|
NM_003183.6(ADAM17):c.873A>G (p.Val291=)
|
|
|
NM_003183.6(ADAM17):c.888G>A (p.Lys296=)
|
|
|
NM_003183.6(ADAM17):c.903A>G (p.Ala301=)
|
|
|
NM_003183.6(ADAM17):c.958-23_958-13del
|
rs34863481
|
|
NM_003183.6(ADAM17):c.958-24_958-13del
|
rs34863481
|
|
NM_003183.6(ADAM17):c.958-25_958-13del
|
rs34863481
|
|
NM_003183.6(ADAM17):c.958-26_958-13del
|
|
|
NM_003183.6(ADAM17):c.958-5C>A
|
rs768984675
|
|
NM_003183.6(ADAM17):c.97+12G>A
|
|
|
NM_003238.6(TGFB2):c.*1233del
|
rs532376886
|
|
NM_003238.6(TGFB2):c.*21G>T
|
rs778452299
|
|
NM_003238.6(TGFB2):c.-45del
|
rs200186989
|
|
NM_003238.6(TGFB2):c.-644AC[11]
|
rs151329324
|
|
NM_003238.6(TGFB2):c.1032C>T (p.Asn344=)
|
|
|
NM_003238.6(TGFB2):c.1041T>C (p.Ala347=)
|
|
|
NM_003238.6(TGFB2):c.1071C>T (p.Asp357=)
|
|
|
NM_003238.6(TGFB2):c.1080C>T (p.His360=)
|
rs2102630189
|
|
NM_003238.6(TGFB2):c.1086+10C>T
|
|
|
NM_003238.6(TGFB2):c.1086+13C>T
|
|
|
NM_003238.6(TGFB2):c.1086+15T>A
|
|
|
NM_003238.6(TGFB2):c.1107C>A (p.Thr369=)
|
rs2102634327
|
|
NM_003238.6(TGFB2):c.111C>A (p.Ile37=)
|
rs1440677621
|
|
NM_003238.6(TGFB2):c.111C>T (p.Ile37=)
|
|
|
NM_003238.6(TGFB2):c.1162C>T (p.Leu388=)
|
|
|
NM_003238.6(TGFB2):c.117G>C (p.Ala39=)
|
rs1430240541
|
|
NM_003238.6(TGFB2):c.1185C>T (p.Gly395=)
|
|
|
NM_003238.6(TGFB2):c.1227G>A (p.Lys409=)
|
rs2102634493
|
|
NM_003238.6(TGFB2):c.1230T>C (p.Ser410=)
|
rs2102634500
|
|
NM_003238.6(TGFB2):c.133C>T (p.Leu45=)
|
rs1553292084
|
|
NM_003238.6(TGFB2):c.142C>T (p.Leu48=)
|
rs2102527511
|
|
NM_003238.6(TGFB2):c.159C>T (p.Pro53=)
|
|
|
NM_003238.6(TGFB2):c.174T>G (p.Pro58=)
|
|
|
NM_003238.6(TGFB2):c.183G>A (p.Glu61=)
|
|
|
NM_003238.6(TGFB2):c.186A>G (p.Glu62=)
|
|
|
NM_003238.6(TGFB2):c.189C>A (p.Val63=)
|
|
|
NM_003238.6(TGFB2):c.189C>T (p.Val63=)
|
rs774030175
|
|
NM_003238.6(TGFB2):c.234C>T (p.Leu78=)
|
|
|
NM_003238.6(TGFB2):c.243G>A (p.Lys81=)
|
rs2102527710
|
|
NM_003238.6(TGFB2):c.252G>C (p.Arg84=)
|
|
|
NM_003238.6(TGFB2):c.255G>A (p.Arg85=)
|
|
|
NM_003238.6(TGFB2):c.285C>A (p.Asp95Glu)
|
rs767393318
|
|
NM_003238.6(TGFB2):c.291G>A (p.Glu97=)
|
|
|
NM_003238.6(TGFB2):c.30G>C (p.Leu10=)
|
rs1571820584
|
|
NM_003238.6(TGFB2):c.327G>C (p.Pro109=)
|
|
|
NM_003238.6(TGFB2):c.346+12T>C
|
|
|
NM_003238.6(TGFB2):c.346+12T>G
|
|
|
NM_003238.6(TGFB2):c.346+8C>G
|
rs1553292149
|
|
NM_003238.6(TGFB2):c.399C>T (p.Asp133=)
|
|
|
NM_003238.6(TGFB2):c.417G>A (p.Lys139=)
|
|
|
NM_003238.6(TGFB2):c.441A>T (p.Ala147=)
|
rs1036004441
|
|
NM_003238.6(TGFB2):c.459T>C (p.Arg153=)
|
|
|
NM_003238.6(TGFB2):c.471A>G (p.Pro157=)
|
rs1558248483
|
|
NM_003238.6(TGFB2):c.486T>C (p.Pro162=)
|
|
|
NM_003238.6(TGFB2):c.504A>G (p.Leu168=)
|
|
|
NM_003238.6(TGFB2):c.510+12TTG[11]
|
rs10482769
|
|
NM_003238.6(TGFB2):c.510+12TTG[12]
|
rs10482769
|
|
NM_003238.6(TGFB2):c.510+12TTG[13]
|
rs10482769
|
|
NM_003238.6(TGFB2):c.510+12TTG[14]
|
rs10482769
|
|
NM_003238.6(TGFB2):c.510+12TTG[15]
|
rs10482769
|
|
NM_003238.6(TGFB2):c.510+12TTG[16]
|
|
|
NM_003238.6(TGFB2):c.510+12TTG[6]
|
rs10482769
|
|
NM_003238.6(TGFB2):c.510+12TTG[7]
|
rs10482769
|
|
NM_003238.6(TGFB2):c.510+12TTG[8]
|
rs10482769
|
|
NM_003238.6(TGFB2):c.510+12TTG[9]
|
rs10482769
|
|
NM_003238.6(TGFB2):c.510+9C>T
|
rs1481374757
|
|
NM_003238.6(TGFB2):c.511-18G>A
|
|
|
NM_003238.6(TGFB2):c.511-8C>T
|
rs770497232
|
|
NM_003238.6(TGFB2):c.511-9C>T
|
rs1309139149
|
|
NM_003238.6(TGFB2):c.513T>C (p.Ile171=)
|
rs1248612292
|
|
NM_003238.6(TGFB2):c.543C>G (p.Thr181=)
|
rs1446432119
|
|
NM_003238.6(TGFB2):c.546G>A (p.Gln182=)
|
rs1553302931
|
|
NM_003238.6(TGFB2):c.57C>T (p.Leu19=)
|
rs1224916923
|
|
NM_003238.6(TGFB2):c.582A>G (p.Ala194=)
|
|
|
NM_003238.6(TGFB2):c.600C>T (p.Ser200=)
|
rs2102626461
|
|
NM_003238.6(TGFB2):c.643+11_643+12del
|
|
|
NM_003238.6(TGFB2):c.643+9C>A
|
|
|
NM_003238.6(TGFB2):c.644-17G>C
|
|
|
NM_003238.6(TGFB2):c.651C>T (p.Asn217=)
|
rs749957893
|
|
NM_003238.6(TGFB2):c.663A>G (p.Lys221=)
|
|
|
NM_003238.6(TGFB2):c.754+7A>G
|
|
|
NM_003238.6(TGFB2):c.755-17A>C
|
|
|
NM_003238.6(TGFB2):c.755-18C>T
|
|
|
NM_003238.6(TGFB2):c.755-6T>C
|
|
|
NM_003238.6(TGFB2):c.759T>C (p.Ile253=)
|
|
|
NM_003238.6(TGFB2):c.774A>C (p.Thr258=)
|
|
|
NM_003238.6(TGFB2):c.792G>A (p.Gln264=)
|
rs2102628465
|
|
NM_003238.6(TGFB2):c.795A>G (p.Lys265=)
|
|
|
NM_003238.6(TGFB2):c.810T>G (p.Thr270=)
|
rs778961900
|
|
NM_003238.6(TGFB2):c.81C>A (p.Leu27=)
|
|
|
NM_003238.6(TGFB2):c.828G>A (p.Gly276=)
|
rs1659959926
|
|
NM_003238.6(TGFB2):c.864C>G (p.Ser288=)
|
rs373646036
|
|
NM_003238.6(TGFB2):c.876G>A (p.Glu292=)
|
rs2102628622
|
|
NM_003238.6(TGFB2):c.885G>A (p.Gln295=)
|
|
|
NM_003238.6(TGFB2):c.888C>T (p.Thr296=)
|
|
|
NM_003238.6(TGFB2):c.895C>A (p.Arg299=)
|
rs863223792
|
|
NM_003238.6(TGFB2):c.906T>G (p.Arg302=)
|
|
|
NM_003238.6(TGFB2):c.921C>T (p.Ala307=)
|
rs2102628692
|
|
NM_003238.6(TGFB2):c.924T>C (p.Tyr308=)
|
|
|
NM_003238.6(TGFB2):c.932+16G>A
|
rs2102628719
|
|
NM_003238.6(TGFB2):c.933-14_933-13insG
|
|
|
NM_003238.6(TGFB2):c.933-18T>C
|
|
|
NM_003238.6(TGFB2):c.933-9T>C
|
rs763680794
|
|
NM_003238.6(TGFB2):c.936T>C (p.Asn312=)
|
|
|
NM_003238.6(TGFB2):c.963A>G (p.Pro321=)
|
|
|
NM_003238.6(TGFB2):c.975T>C (p.Asp325=)
|
|
|
NM_003238.6(TGFB2):c.978C>T (p.Phe326=)
|
rs1405556618
|
|
NM_003238.6(TGFB2):c.990A>G (p.Leu330=)
|
|
|
NM_003239.5(TGFB3):c.1023C>T (p.Ala341=)
|
rs2035149393
|
|
NM_003239.5(TGFB3):c.1026C>T (p.Asn342=)
|
|
|
NM_003239.5(TGFB3):c.1059T>C (p.Ser353=)
|
|
|
NM_003239.5(TGFB3):c.1065C>T (p.Asp355=)
|
|
|
NM_003239.5(TGFB3):c.1074C>T (p.His358=)
|
rs2140236128
|
|
NM_003239.5(TGFB3):c.1080+14T>A
|
|
|
NM_003239.5(TGFB3):c.1081-10C>A
|
|
|
NM_003239.5(TGFB3):c.1081-12G>A
|
|
|
NM_003239.5(TGFB3):c.1081-8C>G
|
rs773558367
|
|
NM_003239.5(TGFB3):c.1081-8C>T
|
rs773558367
|
|
NM_003239.5(TGFB3):c.1083G>T (p.Val361=)
|
rs1595336749
|
|
NM_003239.5(TGFB3):c.1101T>G (p.Thr367=)
|
|
|
NM_003239.5(TGFB3):c.1125G>A (p.Ser375=)
|
|
|
NM_003239.5(TGFB3):c.1128T>C (p.Pro376=)
|
|
|
NM_003239.5(TGFB3):c.1149G>A (p.Leu383=)
|
rs1555360032
|
|
NM_003239.5(TGFB3):c.1173T>C (p.Tyr391=)
|
|
|
NM_003239.5(TGFB3):c.1179G>A (p.Gly393=)
|
rs1555360030
|
|
NM_003239.5(TGFB3):c.1182G>A (p.Arg394=)
|
|
|
NM_003239.5(TGFB3):c.1194G>A (p.Val398=)
|
rs767894523
|
|
NM_003239.5(TGFB3):c.1236C>T (p.Ser412=)
|
rs1231643522
|
|
NM_003239.5(TGFB3):c.135A>T (p.Gly45=)
|
rs759608485
|
|
NM_003239.5(TGFB3):c.144G>A (p.Leu48=)
|
rs1479160942
|
|
NM_003239.5(TGFB3):c.150G>A (p.Lys50=)
|
rs1330137432
|
|
NM_003239.5(TGFB3):c.153C>T (p.Leu51=)
|
rs760506739
|
|
NM_003239.5(TGFB3):c.162C>T (p.Thr54=)
|
|
|
NM_003239.5(TGFB3):c.165C>T (p.Ser55=)
|
|
|
NM_003239.5(TGFB3):c.171T>C (p.Pro57=)
|
rs768225719
|
|
NM_003239.5(TGFB3):c.171T>G (p.Pro57=)
|
|
|
NM_003239.5(TGFB3):c.180G>A (p.Thr60=)
|
rs1594792436
|
|
NM_003239.5(TGFB3):c.210G>C (p.Leu70=)
|
rs2140254337
|
|
NM_003239.5(TGFB3):c.219C>T (p.Tyr73=)
|
|
|
NM_003239.5(TGFB3):c.231G>A (p.Arg77=)
|
|
|
NM_003239.5(TGFB3):c.237G>A (p.Leu79=)
|
rs2140254299
|
|
NM_003239.5(TGFB3):c.237G>T (p.Leu79=)
|
|
|
NM_003239.5(TGFB3):c.258G>A (p.Glu86=)
|
rs761683627
|
|
NM_003239.5(TGFB3):c.291G>A (p.Glu97=)
|
rs1286432002
|
|
NM_003239.5(TGFB3):c.300C>T (p.Tyr100=)
|
|
|
NM_003239.5(TGFB3):c.345G>A (p.Ala115=)
|
rs1060504730
|
|
NM_003239.5(TGFB3):c.352+10A>G
|
|
|
NM_003239.5(TGFB3):c.352+13T>C
|
|
|
NM_003239.5(TGFB3):c.352+17G>A
|
|
|
NM_003239.5(TGFB3):c.353-14G>T
|
rs886050797
|
|
NM_003239.5(TGFB3):c.353-14_353-10del
|
rs1422599707
|
|
NM_003239.5(TGFB3):c.353-19G>C
|
|
|
NM_003239.5(TGFB3):c.353-4C>G
|
|
|
NM_003239.5(TGFB3):c.353-5C>T
|
rs1355725139
|
|
NM_003239.5(TGFB3):c.438A>G (p.Leu146=)
|
rs2140245833
|
|
NM_003239.5(TGFB3):c.43C>T (p.Leu15=)
|
|
|
NM_003239.5(TGFB3):c.441C>T (p.Phe147=)
|
rs560468476
|
|
NM_003239.5(TGFB3):c.471C>T (p.Pro157=)
|
rs768917005
|
|
NM_003239.5(TGFB3):c.498G>A (p.Gln166=)
|
rs886050796
|
|
NM_003239.5(TGFB3):c.516+18G>C
|
rs1594787972
|
|
NM_003239.5(TGFB3):c.516+8C>A
|
rs2035292281
|
|
NM_003239.5(TGFB3):c.516+9T>C
|
rs2140245664
|
|
NM_003239.5(TGFB3):c.517-10T>C
|
rs375794497
|
|
NM_003239.5(TGFB3):c.517-13C>T
|
|
|
NM_003239.5(TGFB3):c.517-18C>G
|
|
|
NM_003239.5(TGFB3):c.525G>C (p.Arg175=)
|
|
|
NM_003239.5(TGFB3):c.57G>A (p.Thr19=)
|
|
|
NM_003239.5(TGFB3):c.57G>C (p.Thr19=)
|
rs1325304886
|
|
NM_003239.5(TGFB3):c.646+16A>T
|
|
|
NM_003239.5(TGFB3):c.646+17G>T
|
|
|
NM_003239.5(TGFB3):c.646+18A>C
|
|
|
NM_003239.5(TGFB3):c.646+9A>G
|
rs903703321
|
|
NM_003239.5(TGFB3):c.647-17T>C
|
rs937023243
|
|
NM_003239.5(TGFB3):c.66C>T (p.Leu22=)
|
|
|
NM_003239.5(TGFB3):c.684A>G (p.Pro228=)
|
rs745821422
|
|
NM_003239.5(TGFB3):c.708A>G (p.Gly236=)
|
rs2035212392
|
|
NM_003239.5(TGFB3):c.711T>C (p.Asp237=)
|
rs1206735679
|
|
NM_003239.5(TGFB3):c.714C>T (p.Ile238=)
|
|
|
NM_003239.5(TGFB3):c.735G>T (p.Val245=)
|
|
|
NM_003239.5(TGFB3):c.750C>T (p.Phe250=)
|
rs2140240196
|
|
NM_003239.5(TGFB3):c.754+11G>T
|
|
|
NM_003239.5(TGFB3):c.755-10C>T
|
|
|
NM_003239.5(TGFB3):c.755-14C>T
|
|
|
NM_003239.5(TGFB3):c.755-16del
|
|
|
NM_003239.5(TGFB3):c.755-18T>C
|
|
|
NM_003239.5(TGFB3):c.755-6C>G
|
rs1283455840
|
|
NM_003239.5(TGFB3):c.756C>A (p.Gly252=)
|
|
|
NM_003239.5(TGFB3):c.756C>T (p.Gly252=)
|
rs369435862
|
|
NM_003239.5(TGFB3):c.777T>C (p.His259=)
|
rs1595339249
|
|
NM_003239.5(TGFB3):c.795G>A (p.Gly265=)
|
rs1213571239
|
|
NM_003239.5(TGFB3):c.810G>A (p.Gln270=)
|
rs1595339194
|
|
NM_003239.5(TGFB3):c.832C>T (p.Leu278=)
|
rs2035182890
|
|
NM_003239.5(TGFB3):c.837C>T (p.Ile279=)
|
|
|
NM_003239.5(TGFB3):c.864C>T (p.Leu288=)
|
|
|
NM_003239.5(TGFB3):c.926+11G>A
|
rs2035179873
|
|
NM_003239.5(TGFB3):c.926+11del
|
rs2140238030
|
|
NM_003239.5(TGFB3):c.926+12C>T
|
|
|
NM_003239.5(TGFB3):c.926+19G>C
|
|
|
NM_003239.5(TGFB3):c.926+19_926+30del
|
|
|
NM_003239.5(TGFB3):c.926+9G>A
|
rs771442662
|
|
NM_003239.5(TGFB3):c.927-14G>A
|
|
|
NM_003239.5(TGFB3):c.927-15T>C
|
|
|
NM_003239.5(TGFB3):c.927-6T>C
|
|
|
NM_003239.5(TGFB3):c.927-7G>A
|
rs2140236302
|
|
NM_003239.5(TGFB3):c.951G>A (p.Val317=)
|
|
|
NM_003239.5(TGFB3):c.954C>T (p.Arg318=)
|
rs1595337745
|
|
NM_003239.5(TGFB3):c.973C>A (p.Arg325=)
|
|
|
NM_003242.6(TGFBR2):c.*859G>A
|
rs548242538
|
|
NM_003242.6(TGFBR2):c.1159G>A (p.Val387Met)
|
rs35766612
|
|
NM_003243.5(TGFBR3):c.1076-16CTT[2]
|
rs565379527
|
|
NM_003243.5(TGFBR3):c.466G>A (p.Gly156Arg)
|
rs755000509
|
|
NM_003977.4(AIP):c.468+16G>T
|
rs267607273
|
|
NM_003978.5(PSTPIP1):c.-421CCTG[6]
|
rs55909412
|
|
NM_003978.5(PSTPIP1):c.1002G>A (p.Leu334=)
|
|
|
NM_003978.5(PSTPIP1):c.1032C>T (p.Val344=)
|
rs1568527489
|
|
NM_003978.5(PSTPIP1):c.1037C>A (p.Thr346Lys)
|
|
|
NM_003978.5(PSTPIP1):c.1047A>T (p.Ala349=)
|
|
|
NM_003978.5(PSTPIP1):c.1053G>A (p.Gln351=)
|
|
|
NM_003978.5(PSTPIP1):c.1074C>T (p.Ala358=)
|
rs2076557282
|
|
NM_003978.5(PSTPIP1):c.1086G>A (p.Gln362=)
|
rs528187669
|
|
NM_003978.5(PSTPIP1):c.1119+15C>G
|
rs755168700
|
|
NM_003978.5(PSTPIP1):c.1119+15C>T
|
|
|
NM_003978.5(PSTPIP1):c.1119+17_1119+36del
|
|
|
NM_003978.5(PSTPIP1):c.1119+3_1119+6dup
|
rs1596141513
|
|
NM_003978.5(PSTPIP1):c.1120-11del
|
rs1231169202
|
|
NM_003978.5(PSTPIP1):c.1120-4C>T
|
|
|
NM_003978.5(PSTPIP1):c.1137C>T (p.Asp379=)
|
|
|
NM_003978.5(PSTPIP1):c.1144G>A (p.Ala382Thr)
|
rs145344175
|
|
NM_003978.5(PSTPIP1):c.1146G>C (p.Ala382=)
|
|
|
NM_003978.5(PSTPIP1):c.1170G>A (p.Leu390=)
|
|
|
NM_003978.5(PSTPIP1):c.1215T>A (p.Arg405=)
|
rs887633148
|
|
NM_003978.5(PSTPIP1):c.1221C>A (p.Phe407Leu)
|
rs200363654
|
|
NM_003978.5(PSTPIP1):c.1221C>T (p.Phe407=)
|
rs200363654
|
|
NM_003978.5(PSTPIP1):c.1233C>T (p.Ser411=)
|
rs538042433
|
|
NM_003978.5(PSTPIP1):c.1242G>A (p.Glu414=)
|
rs1158206044
|
|
NM_003978.5(PSTPIP1):c.135G>A (p.Gln45=)
|
|
|
NM_003978.5(PSTPIP1):c.137+12G>T
|
|
|
NM_003978.5(PSTPIP1):c.138-14C>T
|
|
|
NM_003978.5(PSTPIP1):c.138-15C>T
|
|
|
NM_003978.5(PSTPIP1):c.15G>A (p.Leu5=)
|
|
|
NM_003978.5(PSTPIP1):c.162G>A (p.Gly54=)
|
|
|
NM_003978.5(PSTPIP1):c.165G>A (p.Lys55=)
|
|
|
NM_003978.5(PSTPIP1):c.168G>A (p.Glu56=)
|
|
|
NM_003978.5(PSTPIP1):c.174G>A (p.Val58=)
|
|
|
NM_003978.5(PSTPIP1):c.180C>T (p.Ile60=)
|
|
|
NM_003978.5(PSTPIP1):c.189G>A (p.Lys63=)
|
|
|
NM_003978.5(PSTPIP1):c.201G>A (p.Gln67=)
|
|
|
NM_003978.5(PSTPIP1):c.212+17C>T
|
|
|
NM_003978.5(PSTPIP1):c.212+18C>T
|
|
|
NM_003978.5(PSTPIP1):c.212+20G>A
|
|
|
NM_003978.5(PSTPIP1):c.212+8C>A
|
|
|
NM_003978.5(PSTPIP1):c.212+9T>A
|
|
|
NM_003978.5(PSTPIP1):c.213-10T>G
|
rs746522552
|
|
NM_003978.5(PSTPIP1):c.213-13A>G
|
|
|
NM_003978.5(PSTPIP1):c.213-16C>T
|
|
|
NM_003978.5(PSTPIP1):c.225C>T (p.Ala75=)
|
|
|
NM_003978.5(PSTPIP1):c.228C>T (p.Ser76=)
|
|
|
NM_003978.5(PSTPIP1):c.247+14C>T
|
|
|
NM_003978.5(PSTPIP1):c.247+7C>A
|
|
|
NM_003978.5(PSTPIP1):c.247+9C>T
|
|
|
NM_003978.5(PSTPIP1):c.255G>A (p.Glu85=)
|
rs1014025734
|
|
NM_003978.5(PSTPIP1):c.280C>T (p.Leu94=)
|
|
|
NM_003978.5(PSTPIP1):c.315C>T (p.Leu105=)
|
|
|
NM_003978.5(PSTPIP1):c.342G>A (p.Glu114=)
|
rs1431414496
|
|
NM_003978.5(PSTPIP1):c.354+12G>T
|
|
|
NM_003978.5(PSTPIP1):c.354+13C>T
|
rs1207783811
|
|
NM_003978.5(PSTPIP1):c.354+17G>A
|
|
|
NM_003978.5(PSTPIP1):c.354+20C>A
|
rs184279306
|
|
NM_003978.5(PSTPIP1):c.355-11G>T
|
|
|
NM_003978.5(PSTPIP1):c.355-14C>T
|
|
|
NM_003978.5(PSTPIP1):c.355-8C>T
|
|
|
NM_003978.5(PSTPIP1):c.36+15T>C
|
rs752123803
|
|
NM_003978.5(PSTPIP1):c.36+19_36+22dup
|
|
|
NM_003978.5(PSTPIP1):c.37-17_37-15del
|
|
|
NM_003978.5(PSTPIP1):c.373C>A (p.Arg125=)
|
rs750160336
|
|
NM_003978.5(PSTPIP1):c.417+10A>C
|
rs758258744
|
|
NM_003978.5(PSTPIP1):c.417+10A>G
|
|
|
NM_003978.5(PSTPIP1):c.417+7G>A
|
rs1035113783
|
|
NM_003978.5(PSTPIP1):c.418-11_418-9dup
|
|
|
NM_003978.5(PSTPIP1):c.418-13T>C
|
|
|
NM_003978.5(PSTPIP1):c.418-5C>T
|
rs2152685978
|
|
NM_003978.5(PSTPIP1):c.420C>T (p.Ser140=)
|
|
|
NM_003978.5(PSTPIP1):c.445C>A (p.Arg149=)
|
|
|
NM_003978.5(PSTPIP1):c.456C>T (p.Asp152=)
|
|
|
NM_003978.5(PSTPIP1):c.45C>T (p.Asp15=)
|
|
|
NM_003978.5(PSTPIP1):c.462G>A (p.Ala154=)
|
|
|
NM_003978.5(PSTPIP1):c.474C>T (p.Phe158=)
|
|
|
NM_003978.5(PSTPIP1):c.492C>T (p.Asn164=)
|
|
|
NM_003978.5(PSTPIP1):c.516+10G>C
|
|
|
NM_003978.5(PSTPIP1):c.516+14_516+40del
|
rs2152686129
|
|
NM_003978.5(PSTPIP1):c.516+20C>A
|
|
|
NM_003978.5(PSTPIP1):c.516+8G>A
|
|
|
NM_003978.5(PSTPIP1):c.517-12_517-11del
|
rs778522775
|
|
NM_003978.5(PSTPIP1):c.517-16C>T
|
|
|
NM_003978.5(PSTPIP1):c.517-20C>T
|
|
|
NM_003978.5(PSTPIP1):c.528A>G (p.Lys176=)
|
|
|
NM_003978.5(PSTPIP1):c.531C>T (p.Ala177=)
|
rs2152686764
|
|
NM_003978.5(PSTPIP1):c.54C>T (p.Ala18=)
|
|
|
NM_003978.5(PSTPIP1):c.558G>A (p.Glu186=)
|
rs879254120
|
|
NM_003978.5(PSTPIP1):c.562+9G>A
|
|
|
NM_003978.5(PSTPIP1):c.563-14G>A
|
|
|
NM_003978.5(PSTPIP1):c.563-9C>T
|
rs768152191
|
|
NM_003978.5(PSTPIP1):c.570A>G (p.Val190=)
|
rs2152687500
|
|
NM_003978.5(PSTPIP1):c.573C>T (p.Tyr191=)
|
|
|
NM_003978.5(PSTPIP1):c.585T>C (p.Ile195=)
|
|
|
NM_003978.5(PSTPIP1):c.59C>T (p.Thr20Met)
|
rs553718554
|
|
NM_003978.5(PSTPIP1):c.60G>A (p.Thr20=)
|
rs572721166
|
|
NM_003978.5(PSTPIP1):c.60G>C (p.Thr20=)
|
rs572721166
|
|
NM_003978.5(PSTPIP1):c.618G>A (p.Glu206=)
|
|
|
NM_003978.5(PSTPIP1):c.621G>A (p.Gln207=)
|
rs2076390026
|
|
NM_003978.5(PSTPIP1):c.642+14G>A
|
|
|
NM_003978.5(PSTPIP1):c.642+18_642+19del
|
|
|
NM_003978.5(PSTPIP1):c.643-19T>A
|
|
|
NM_003978.5(PSTPIP1):c.645C>T (p.Ala215=)
|
|
|
NM_003978.5(PSTPIP1):c.654G>T (p.Leu218=)
|
rs2152688153
|
|
NM_003978.5(PSTPIP1):c.657A>G (p.Gln219=)
|
rs139362350
|
|
NM_003978.5(PSTPIP1):c.675C>A (p.Thr225=)
|
rs770958110
|
|
NM_003978.5(PSTPIP1):c.690C>T (p.Ala230=)
|
|
|
NM_003978.5(PSTPIP1):c.714C>A (p.Leu238=)
|
|
|
NM_003978.5(PSTPIP1):c.741+11A>C
|
rs2152688261
|
|
NM_003978.5(PSTPIP1):c.741+12G>A
|
rs370307155
|
|
NM_003978.5(PSTPIP1):c.741+15C>T
|
|
|
NM_003978.5(PSTPIP1):c.742-14C>T
|
|
|
NM_003978.5(PSTPIP1):c.742-6C>T
|
|
|
NM_003978.5(PSTPIP1):c.768G>T (p.Leu256=)
|
rs2152689079
|
|
NM_003978.5(PSTPIP1):c.796G>A (p.Asp266Asn)
|
rs104895418
|
|
NM_003978.5(PSTPIP1):c.798C>T (p.Asp266=)
|
|
|
NM_003978.5(PSTPIP1):c.822G>A (p.Thr274=)
|
rs760300353
|
|
NM_003978.5(PSTPIP1):c.822G>C (p.Thr274=)
|
|
|
NM_003978.5(PSTPIP1):c.82C>A (p.Arg28=)
|
rs767330325
|
|
NM_003978.5(PSTPIP1):c.838+17G>A
|
|
|
NM_003978.5(PSTPIP1):c.838+20C>G
|
|
|
NM_003978.5(PSTPIP1):c.839-19C>A
|
|
|
NM_003978.5(PSTPIP1):c.839-8G>T
|
|
|
NM_003978.5(PSTPIP1):c.846G>A (p.Val282=)
|
rs1596129223
|
|
NM_003978.5(PSTPIP1):c.852C>T (p.Tyr284=)
|
rs1324002708
|
|
NM_003978.5(PSTPIP1):c.909G>A (p.Pro303=)
|
|
|
NM_003978.5(PSTPIP1):c.929+11G>A
|
rs753081335
|
|
NM_003978.5(PSTPIP1):c.929+11G>C
|
|
|
NM_003978.5(PSTPIP1):c.929+13C>G
|
|
|
NM_003978.5(PSTPIP1):c.929+14A>T
|
|
|
NM_003978.5(PSTPIP1):c.929+8C>T
|
|
|
NM_003978.5(PSTPIP1):c.930-10_930-9del
|
|
|
NM_003978.5(PSTPIP1):c.957C>G (p.Pro319=)
|
rs2076539978
|
|
NM_003978.5(PSTPIP1):c.960G>A (p.Lys320=)
|
rs2152691719
|
|
NM_003978.5(PSTPIP1):c.969G>A (p.Ser323=)
|
|
|
NM_003978.5(PSTPIP1):c.969G>T (p.Ser323=)
|
|
|
NM_003978.5(PSTPIP1):c.985+16A>C
|
|
|
NM_003978.5(PSTPIP1):c.985+16_985+18del
|
rs2152691755
|
|
NM_003978.5(PSTPIP1):c.986-12C>T
|
rs2152691941
|
|
NM_003978.5(PSTPIP1):c.986-5C>T
|
|
|
NM_003978.5(PSTPIP1):c.987G>C (p.Ala329=)
|
rs750823506
|
|
NM_004273.5(CHST3):c.*1447C>A
|
rs76808415
|
|
NM_004273.5(CHST3):c.*1978GT[4]
|
rs150678709
|
|
NM_004273.5(CHST3):c.*2126A>C
|
rs7072219
|
|
NM_004273.5(CHST3):c.*2718G>A
|
rs115489836
|
|
NM_004273.5(CHST3):c.*3090T>A
|
rs76750860
|
|
NM_004273.5(CHST3):c.*3701AG[1]
|
rs200054447
|
|
NM_004273.5(CHST3):c.*3884A>G
|
rs77908871
|
|
NM_004273.5(CHST3):c.-270del
|
rs538907004
|
|
NM_004364.5(CEBPA):c.1008C>T (p.Asp336=)
|
|
|
NM_004364.5(CEBPA):c.1017G>C (p.Arg339=)
|
rs2145258335
|
|
NM_004364.5(CEBPA):c.1020C>T (p.Gly340=)
|
rs1226278699
|
|
NM_004364.5(CEBPA):c.102C>A (p.Pro34=)
|
|
|
NM_004364.5(CEBPA):c.1032G>A (p.Gln344=)
|
rs1967157574
|
|
NM_004364.5(CEBPA):c.1047C>T (p.Ser349=)
|
|
|
NM_004364.5(CEBPA):c.1050G>A (p.Leu350=)
|
|
|
NM_004364.5(CEBPA):c.1059C>T (p.Ala353=)
|
|
|
NM_004364.5(CEBPA):c.1071C>T (p.Cys357=)
|
rs1162154287
|
|
NM_004364.5(CEBPA):c.1074G>T (p.Ala358=)
|
rs2145257987
|
|
NM_004364.5(CEBPA):c.108C>A (p.Gly36=)
|
rs1399064538
|
|
NM_004364.5(CEBPA):c.111G>A (p.Ala37=)
|
rs1323312485
|
|
NM_004364.5(CEBPA):c.114C>A (p.Gly38=)
|
rs1600024309
|
|
NM_004364.5(CEBPA):c.114C>T (p.Gly38=)
|
|
|
NM_004364.5(CEBPA):c.117C>T (p.Pro39=)
|
rs1318381484
|
|
NM_004364.5(CEBPA):c.120G>T (p.Ala40=)
|
rs1555742292
|
|
NM_004364.5(CEBPA):c.129C>A (p.Pro43=)
|
rs1060504476
|
|
NM_004364.5(CEBPA):c.129C>T (p.Pro43=)
|
rs1060504476
|
|
NM_004364.5(CEBPA):c.132C>T (p.Ala44=)
|
rs1060504474
|
|
NM_004364.5(CEBPA):c.138T>A (p.Pro46=)
|
rs1387400759
|
|
NM_004364.5(CEBPA):c.141C>T (p.Ala47=)
|
rs2145264175
|
|
NM_004364.5(CEBPA):c.144C>T (p.Ala48=)
|
rs2145264160
|
|
NM_004364.5(CEBPA):c.147G>A (p.Pro49=)
|
rs2145264142
|
|
NM_004364.5(CEBPA):c.153G>T (p.Pro51=)
|
rs1054442664
|
|
NM_004364.5(CEBPA):c.156G>A (p.Leu52=)
|
rs1445416977
|
|
NM_004364.5(CEBPA):c.159C>T (p.Gly53=)
|
rs1555742279
|
|
NM_004364.5(CEBPA):c.162C>T (p.Gly54=)
|
rs2145264026
|
|
NM_004364.5(CEBPA):c.165C>T (p.Ile55=)
|
rs1600024047
|
|
NM_004364.5(CEBPA):c.174C>T (p.His58=)
|
rs878854699
|
|
NM_004364.5(CEBPA):c.177G>A (p.Glu59=)
|
rs2145263936
|
|
NM_004364.5(CEBPA):c.180G>T (p.Thr60=)
|
rs1243562179
|
|
NM_004364.5(CEBPA):c.183C>T (p.Ser61=)
|
rs2145263896
|
|
NM_004364.5(CEBPA):c.186C>A (p.Ile62=)
|
rs1967195162
|
|
NM_004364.5(CEBPA):c.186C>T (p.Ile62=)
|
rs1967195162
|
|
NM_004364.5(CEBPA):c.18C>T (p.Phe6=)
|
rs2145265092
|
|
NM_004364.5(CEBPA):c.210G>C (p.Pro70=)
|
rs1432277634
|
|
NM_004364.5(CEBPA):c.213C>T (p.Ala71=)
|
rs2145263717
|
|
NM_004364.5(CEBPA):c.216C>T (p.Ala72=)
|
rs2145263684
|
|
NM_004364.5(CEBPA):c.222C>T (p.Asn74=)
|
rs1324116336
|
|
NM_004364.5(CEBPA):c.231C>T (p.Phe77=)
|
|
|
NM_004364.5(CEBPA):c.237C>T (p.Ala79=)
|
rs1967193109
|
|
NM_004364.5(CEBPA):c.240C>T (p.Asp80=)
|
rs2145263542
|
|
NM_004364.5(CEBPA):c.252C>T (p.His84=)
|
rs878854700
|
|
NM_004364.5(CEBPA):c.261G>A (p.Gln87=)
|
|
|
NM_004364.5(CEBPA):c.270G>A (p.Lys90=)
|
rs2145263399
|
|
NM_004364.5(CEBPA):c.279G>T (p.Ala93=)
|
|
|
NM_004364.5(CEBPA):c.27G>A (p.Ala9=)
|
rs1555742328
|
|
NM_004364.5(CEBPA):c.27G>T (p.Ala9=)
|
rs1555742328
|
|
NM_004364.5(CEBPA):c.282C>T (p.Ala94=)
|
|
|
NM_004364.5(CEBPA):c.288C>A (p.Gly96=)
|
rs919975422
|
|
NM_004364.5(CEBPA):c.294G>A (p.Thr98=)
|
rs2145263234
|
|
NM_004364.5(CEBPA):c.297C>A (p.Gly99=)
|
rs1967191186
|
|
NM_004364.5(CEBPA):c.297C>G (p.Gly99=)
|
rs1967191186
|
|
NM_004364.5(CEBPA):c.306C>T (p.Gly102=)
|
rs1273467139
|
|
NM_004364.5(CEBPA):c.312C>G (p.Gly104=)
|
rs1600023585
|
|
NM_004364.5(CEBPA):c.312C>T (p.Gly104=)
|
|
|
NM_004364.5(CEBPA):c.315C>T (p.Asp105=)
|
rs2145263071
|
|
NM_004364.5(CEBPA):c.318T>C (p.Phe106=)
|
rs1555742225
|
|
NM_004364.5(CEBPA):c.327G>A (p.Pro109=)
|
|
|
NM_004364.5(CEBPA):c.327G>C (p.Pro109=)
|
rs1269033726
|
|
NM_004364.5(CEBPA):c.330C>A (p.Gly110=)
|
rs1207839159
|
|
NM_004364.5(CEBPA):c.330C>G (p.Gly110=)
|
rs1207839159
|
|
NM_004364.5(CEBPA):c.333G>A (p.Ala111=)
|
rs2145262901
|
|
NM_004364.5(CEBPA):c.333G>T (p.Ala111=)
|
rs2145262901
|
|
NM_004364.5(CEBPA):c.336C>G (p.Pro112=)
|
|
|
NM_004364.5(CEBPA):c.336C>T (p.Pro112=)
|
rs2145262884
|
|
NM_004364.5(CEBPA):c.339G>A (p.Ala113=)
|
rs1032707295
|
|
NM_004364.5(CEBPA):c.339G>T (p.Ala113=)
|
|
|
NM_004364.5(CEBPA):c.33G>A (p.Pro11=)
|
|
|
NM_004364.5(CEBPA):c.345C>G (p.Pro115=)
|
|
|
NM_004364.5(CEBPA):c.345C>T (p.Pro115=)
|
rs1001507122
|
|
NM_004364.5(CEBPA):c.348C>A (p.Gly116=)
|
rs1405076684
|
|
NM_004364.5(CEBPA):c.348C>T (p.Gly116=)
|
rs1405076684
|
|
NM_004364.5(CEBPA):c.354C>T (p.Ala118=)
|
|
|
NM_004364.5(CEBPA):c.357C>T (p.Val119=)
|
rs1600023390
|
|
NM_004364.5(CEBPA):c.363C>A (p.Pro121=)
|
rs1042672907
|
|
NM_004364.5(CEBPA):c.363C>T (p.Pro121=)
|
rs1042672907
|
|
NM_004364.5(CEBPA):c.366G>A (p.Gly122=)
|
rs1303743272
|
|
NM_004364.5(CEBPA):c.366G>C (p.Gly122=)
|
rs1303743272
|
|
NM_004364.5(CEBPA):c.36G>A (p.Arg12=)
|
rs2145264978
|
|
NM_004364.5(CEBPA):c.372G>A (p.Ala124=)
|
|
|
NM_004364.5(CEBPA):c.372G>T (p.Ala124=)
|
|
|
NM_004364.5(CEBPA):c.375C>T (p.His125=)
|
rs1365012932
|
|
NM_004364.5(CEBPA):c.378G>A (p.Gly126=)
|
rs1967186909
|
|
NM_004364.5(CEBPA):c.378G>T (p.Gly126=)
|
rs1967186909
|
|
NM_004364.5(CEBPA):c.384G>A (p.Pro128=)
|
rs938139789
|
|
NM_004364.5(CEBPA):c.384G>C (p.Pro128=)
|
rs938139789
|
|
NM_004364.5(CEBPA):c.387C>G (p.Pro129=)
|
rs1060504477
|
|
NM_004364.5(CEBPA):c.399C>T (p.Cys133=)
|
rs2145262379
|
|
NM_004364.5(CEBPA):c.39C>T (p.Pro13=)
|
rs1015459376
|
|
NM_004364.5(CEBPA):c.405C>T (p.Ala135=)
|
|
|
NM_004364.5(CEBPA):c.411C>T (p.Gly137=)
|
|
|
NM_004364.5(CEBPA):c.414C>T (p.Tyr138=)
|
|
|
NM_004364.5(CEBPA):c.417G>A (p.Leu139=)
|
|
|
NM_004364.5(CEBPA):c.420C>T (p.Asp140=)
|
rs2145262231
|
|
NM_004364.5(CEBPA):c.421G>C (p.Gly141Arg)
|
rs1408671093
|
|
NM_004364.5(CEBPA):c.438G>A (p.Leu146=)
|
rs2145262115
|
|
NM_004364.5(CEBPA):c.438G>C (p.Leu146=)
|
|
|
NM_004364.5(CEBPA):c.441C>T (p.Tyr147=)
|
rs2145262085
|
|
NM_004364.5(CEBPA):c.450C>A (p.Val150=)
|
rs2145262031
|
|
NM_004364.5(CEBPA):c.450C>T (p.Val150=)
|
rs2145262031
|
|
NM_004364.5(CEBPA):c.453G>A (p.Gly151=)
|
rs2145262006
|
|
NM_004364.5(CEBPA):c.453G>T (p.Gly151=)
|
rs2145262006
|
|
NM_004364.5(CEBPA):c.459G>C (p.Pro153=)
|
rs779373951
|
|
NM_004364.5(CEBPA):c.462G>A (p.Ala154=)
|
rs1481499354
|
|
NM_004364.5(CEBPA):c.466C>A (p.Arg156=)
|
rs1267025311
|
|
NM_004364.5(CEBPA):c.477G>A (p.Val159=)
|
rs2145261839
|
|
NM_004364.5(CEBPA):c.504T>C (p.Asp168=)
|
|
|
NM_004364.5(CEBPA):c.507A>G (p.Glu169=)
|
rs1967181843
|
|
NM_004364.5(CEBPA):c.510C>G (p.Ala170=)
|
|
|
NM_004364.5(CEBPA):c.522G>T (p.Ala174=)
|
rs1272249243
|
|
NM_004364.5(CEBPA):c.528C>A (p.Ala176=)
|
rs2145261618
|
|
NM_004364.5(CEBPA):c.531C>T (p.Gly177=)
|
rs1967181154
|
|
NM_004364.5(CEBPA):c.534C>T (p.Leu178=)
|
rs1600022850
|
|
NM_004364.5(CEBPA):c.546G>A (p.Gln182=)
|
|
|
NM_004364.5(CEBPA):c.547C>A (p.Pro183Thr)
|
rs998501847
|
|
NM_004364.5(CEBPA):c.567C>T (p.Pro189=)
|
rs2145261321
|
|
NM_004364.5(CEBPA):c.570G>T (p.Ser190=)
|
|
|
NM_004364.5(CEBPA):c.576G>T (p.Pro192=)
|
rs878854703
|
|
NM_004364.5(CEBPA):c.579C>T (p.His193=)
|
rs1260660049
|
|
NM_004364.5(CEBPA):c.57G>A (p.Leu19=)
|
rs2145264840
|
|
NM_004364.5(CEBPA):c.582G>T (p.Pro194=)
|
|
|
NM_004364.5(CEBPA):c.585C>T (p.His195=)
|
rs2145261171
|
|
NM_004364.5(CEBPA):c.588G>A (p.Pro196=)
|
|
|
NM_004364.5(CEBPA):c.591G>A (p.Pro197=)
|
rs1253794663
|
|
NM_004364.5(CEBPA):c.591G>T (p.Pro197=)
|
|
|
NM_004364.5(CEBPA):c.594C>A (p.Pro198=)
|
rs1222412810
|
|
NM_004364.5(CEBPA):c.594C>G (p.Pro198=)
|
|
|
NM_004364.5(CEBPA):c.597G>T (p.Ala199=)
|
rs1372984262
|
|
NM_004364.5(CEBPA):c.612G>A (p.Pro204=)
|
|
|
NM_004364.5(CEBPA):c.612G>T (p.Pro204=)
|
|
|
NM_004364.5(CEBPA):c.621G>A (p.Gln207=)
|
rs2145260948
|
|
NM_004364.5(CEBPA):c.633G>A (p.Ala211=)
|
|
|
NM_004364.5(CEBPA):c.636C>T (p.His212=)
|
|
|
NM_004364.5(CEBPA):c.63C>T (p.Ser21=)
|
|
|
NM_004364.5(CEBPA):c.645G>A (p.Gln215=)
|
rs2145260868
|
|
NM_004364.5(CEBPA):c.648C>A (p.Thr216=)
|
rs2145260857
|
|
NM_004364.5(CEBPA):c.658C>T (p.Leu220=)
|
rs2145260823
|
|
NM_004364.5(CEBPA):c.660G>A (p.Leu220=)
|
rs2145260813
|
|
NM_004364.5(CEBPA):c.666C>A (p.Pro222=)
|
rs1184004794
|
|
NM_004364.5(CEBPA):c.666C>G (p.Pro222=)
|
rs1184004794
|
|
NM_004364.5(CEBPA):c.666C>T (p.Pro222=)
|
rs1184004794
|
|
NM_004364.5(CEBPA):c.669T>C (p.Gly223=)
|
|
|
NM_004364.5(CEBPA):c.66C>T (p.Pro22=)
|
|
|
NM_004364.5(CEBPA):c.675C>T (p.Pro225=)
|
|
|
NM_004364.5(CEBPA):c.678G>A (p.Thr226=)
|
rs1600022140
|
|
NM_004364.5(CEBPA):c.678G>T (p.Thr226=)
|
|
|
NM_004364.5(CEBPA):c.684G>A (p.Pro228=)
|
rs1199384366
|
|
NM_004364.5(CEBPA):c.693C>A (p.Pro231=)
|
rs550308123
|
|
NM_004364.5(CEBPA):c.693C>T (p.Pro231=)
|
|
|
NM_004364.5(CEBPA):c.699C>T (p.Pro233=)
|
rs2145260639
|
|
NM_004364.5(CEBPA):c.705G>A (p.Pro235=)
|
rs1600022049
|
|
NM_004364.5(CEBPA):c.711C>A (p.Pro237=)
|
|
|
NM_004364.5(CEBPA):c.711C>T (p.Pro237=)
|
|
|
NM_004364.5(CEBPA):c.714G>T (p.Ala238=)
|
|
|
NM_004364.5(CEBPA):c.717C>A (p.Pro239=)
|
|
|
NM_004364.5(CEBPA):c.717C>T (p.Pro239=)
|
rs2145260544
|
|
NM_004364.5(CEBPA):c.720G>T (p.Ala240=)
|
rs2145260539
|
|
NM_004364.5(CEBPA):c.723C>A (p.Leu241=)
|
rs1408787997
|
|
NM_004364.5(CEBPA):c.723C>G (p.Leu241=)
|
rs1408787997
|
|
NM_004364.5(CEBPA):c.729C>T (p.Ala243=)
|
rs1248693843
|
|
NM_004364.5(CEBPA):c.736C>T (p.Leu246=)
|
|
|
NM_004364.5(CEBPA):c.741G>C (p.Pro247=)
|
rs1600021917
|
|
NM_004364.5(CEBPA):c.747T>C (p.Pro249=)
|
rs2145260387
|
|
NM_004364.5(CEBPA):c.750C>A (p.Gly250=)
|
rs1280706388
|
|
NM_004364.5(CEBPA):c.756G>A (p.Ala252=)
|
|
|
NM_004364.5(CEBPA):c.756G>C (p.Ala252=)
|
rs571969199
|
|
NM_004364.5(CEBPA):c.75G>A (p.Ala25=)
|
|
|
NM_004364.5(CEBPA):c.766C>T (p.Leu256=)
|
rs1967170063
|
|
NM_004364.5(CEBPA):c.768G>C (p.Leu256=)
|
|
|
NM_004364.5(CEBPA):c.774C>A (p.Ala258=)
|
rs2145260205
|
|
NM_004364.5(CEBPA):c.777G>T (p.Ala259=)
|
rs967066471
|
|
NM_004364.5(CEBPA):c.783C>T (p.Pro261=)
|
rs777375579
|
|
NM_004364.5(CEBPA):c.792C>T (p.Arg264=)
|
rs1967168365
|
|
NM_004364.5(CEBPA):c.798T>C (p.Ser266=)
|
rs528683666
|
|
NM_004364.5(CEBPA):c.804C>T (p.Gly268=)
|
rs1428722570
|
|
NM_004364.5(CEBPA):c.810C>G (p.Gly270=)
|
rs1480870823
|
|
NM_004364.5(CEBPA):c.819G>A (p.Lys273=)
|
rs1600021510
|
|
NM_004364.5(CEBPA):c.831G>A (p.Ser277=)
|
|
|
NM_004364.5(CEBPA):c.831G>T (p.Ser277=)
|
rs764419883
|
|
NM_004364.5(CEBPA):c.846C>T (p.Ser282=)
|
rs2145259749
|
|
NM_004364.5(CEBPA):c.84C>T (p.Ser28=)
|
rs2145264615
|
|
NM_004364.5(CEBPA):c.852G>A (p.Glu284=)
|
rs376856647
|
|
NM_004364.5(CEBPA):c.858G>A (p.Arg286=)
|
rs1967165387
|
|
NM_004364.5(CEBPA):c.858G>C (p.Arg286=)
|
rs1967165387
|
|
NM_004364.5(CEBPA):c.861_862delinsAA (p.Val287_Arg288=)
|
rs1600021341
|
|
NM_004364.5(CEBPA):c.864G>A (p.Arg288=)
|
|
|
NM_004364.5(CEBPA):c.864G>C (p.Arg288=)
|
rs2145259550
|
|
NM_004364.5(CEBPA):c.867C>G (p.Arg289=)
|
rs1285276568
|
|
NM_004364.5(CEBPA):c.87C>G (p.Ala29=)
|
rs1600024411
|
|
NM_004364.5(CEBPA):c.87C>T (p.Ala29=)
|
rs1600024411
|
|
NM_004364.5(CEBPA):c.885G>C (p.Ala295=)
|
rs1967164416
|
|
NM_004364.5(CEBPA):c.894G>A (p.Lys298=)
|
rs1398534556
|
|
NM_004364.5(CEBPA):c.90C>T (p.Ala30=)
|
|
|
NM_004364.5(CEBPA):c.912G>A (p.Lys304=)
|
|
|
NM_004364.5(CEBPA):c.924G>A (p.Val308=)
|
rs2145258970
|
|
NM_004364.5(CEBPA):c.927G>A (p.Glu309=)
|
|
|
NM_004364.5(CEBPA):c.939G>A (p.Lys313=)
|
rs1600021081
|
|
NM_004364.5(CEBPA):c.945G>A (p.Leu315=)
|
rs780423965
|
|
NM_004364.5(CEBPA):c.948G>A (p.Glu316=)
|
rs1600021056
|
|
NM_004364.5(CEBPA):c.949C>T (p.Leu317=)
|
|
|
NM_004364.5(CEBPA):c.951G>C (p.Leu317=)
|
|
|
NM_004364.5(CEBPA):c.954C>T (p.Thr318=)
|
rs1201858503
|
|
NM_004364.5(CEBPA):c.960C>T (p.Asp320=)
|
rs746447033
|
|
NM_004364.5(CEBPA):c.963T>C (p.Asn321=)
|
rs2145258662
|
|
NM_004364.5(CEBPA):c.970C>T (p.Leu324=)
|
rs2145258597
|
|
NM_004364.5(CEBPA):c.972G>C (p.Leu324=)
|
|
|
NM_004364.5(CEBPA):c.978G>A (p.Lys326=)
|
|
|
NM_004364.5(CEBPA):c.987A>G (p.Glu329=)
|
rs2145258483
|
|
NM_004364.5(CEBPA):c.990G>A (p.Gln330=)
|
rs375876732
|
|
NM_004364.5(CEBPA):c.999C>G (p.Arg333=)
|
|
|
NM_004364.5(CEBPA):c.9G>C (p.Ser3=)
|
rs2145265134
|
|
NM_004364.5(CEBPA):c.9G>T (p.Ser3=)
|
rs2145265134
|
|
NM_004371.4(COPA):c.1015C>A (p.Arg339=)
|
|
|
NM_004371.4(COPA):c.1030C>T (p.Leu344=)
|
|
|
NM_004371.4(COPA):c.1047C>T (p.Ser349=)
|
rs1571163670
|
|
NM_004371.4(COPA):c.1072C>A (p.Arg358=)
|
|
|
NM_004371.4(COPA):c.1073G>T (p.Arg358Leu)
|
|
|
NM_004371.4(COPA):c.1076+12T>G
|
|
|
NM_004371.4(COPA):c.1076+17T>G
|
|
|
NM_004371.4(COPA):c.1077-12A>G
|
|
|
NM_004371.4(COPA):c.1128A>T (p.Ala376=)
|
|
|
NM_004371.4(COPA):c.1134G>A (p.Leu378=)
|
|
|
NM_004371.4(COPA):c.1137T>A (p.Leu379=)
|
|
|
NM_004371.4(COPA):c.1143+10C>A
|
|
|
NM_004371.4(COPA):c.1144-14C>T
|
|
|
NM_004371.4(COPA):c.1149T>C (p.Ala383=)
|
rs2101840871
|
|
NM_004371.4(COPA):c.116G>A (p.Arg39Gln)
|
|
|
NM_004371.4(COPA):c.1182C>T (p.Tyr394=)
|
|
|
NM_004371.4(COPA):c.1197T>C (p.Asp399=)
|
|
|
NM_004371.4(COPA):c.1219+16G>C
|
rs372325156
|
|
NM_004371.4(COPA):c.1219+7G>C
|
rs926437946
|
|
NM_004371.4(COPA):c.1220-8C>T
|
|
|
NM_004371.4(COPA):c.1221G>A (p.Ala407=)
|
|
|
NM_004371.4(COPA):c.1230G>A (p.Gly410=)
|
|
|
NM_004371.4(COPA):c.123C>T (p.Cys41=)
|
|
|
NM_004371.4(COPA):c.1254C>T (p.Ala418=)
|
|
|
NM_004371.4(COPA):c.1293G>T (p.Arg431=)
|
|
|
NM_004371.4(COPA):c.1302+12C>T
|
rs2101838492
|
|
NM_004371.4(COPA):c.1303-6T>C
|
rs746190329
|
|
NM_004371.4(COPA):c.1332C>T (p.Ile444=)
|
rs2101837742
|
|
NM_004371.4(COPA):c.1356C>T (p.Asn452=)
|
|
|
NM_004371.4(COPA):c.1365G>A (p.Glu455=)
|
|
|
NM_004371.4(COPA):c.138G>A (p.Lys46=)
|
|
|
NM_004371.4(COPA):c.1413T>C (p.Ser471=)
|
|
|
NM_004371.4(COPA):c.1414A>G (p.Ile472Val)
|
|
|
NM_004371.4(COPA):c.1442+8A>T
|
rs754430732
|
|
NM_004371.4(COPA):c.1443-16T>A
|
|
|
NM_004371.4(COPA):c.1443-17A>G
|
|
|
NM_004371.4(COPA):c.1443-4T>C
|
rs1571158699
|
|
NM_004371.4(COPA):c.1467T>A (p.Ser489=)
|
rs1045509598
|
|
NM_004371.4(COPA):c.1479C>T (p.Tyr493=)
|
rs1299072491
|
|
NM_004371.4(COPA):c.154+19del
|
|
|
NM_004371.4(COPA):c.1558G>A (p.Ala520Thr)
|
|
|
NM_004371.4(COPA):c.1563A>T (p.Leu521Phe)
|
rs187547429
|
|
NM_004371.4(COPA):c.1575T>C (p.His525=)
|
|
|
NM_004371.4(COPA):c.1600G>T (p.Ala534Ser)
|
|
|
NM_004371.4(COPA):c.1629T>C (p.Tyr543=)
|
|
|
NM_004371.4(COPA):c.1662C>T (p.Thr554=)
|
rs1253636443
|
|
NM_004371.4(COPA):c.1667+19A>C
|
rs2101836380
|
|
NM_004371.4(COPA):c.1667+7T>A
|
|
|
NM_004371.4(COPA):c.1668-17G>C
|
|
|
NM_004371.4(COPA):c.1668-20G>A
|
rs2101829613
|
|
NM_004371.4(COPA):c.1668-5C>A
|
|
|
NM_004371.4(COPA):c.1674C>A (p.His558Gln)
|
|
|
NM_004371.4(COPA):c.1674C>T (p.His558=)
|
rs758422851
|
|
NM_004371.4(COPA):c.1704C>A (p.Ile568=)
|
|
|
NM_004371.4(COPA):c.1710C>T (p.Val570=)
|
|
|
NM_004371.4(COPA):c.174C>T (p.Asp58=)
|
rs2101880218
|
|
NM_004371.4(COPA):c.1756C>T (p.Arg586Cys)
|
|
|
NM_004371.4(COPA):c.1809G>T (p.Leu603=)
|
rs375445896
|
|
NM_004371.4(COPA):c.1826A>T (p.Asp609Val)
|
|
|
NM_004371.4(COPA):c.1830+15T>C
|
|
|
NM_004371.4(COPA):c.1831-17C>A
|
|
|
NM_004371.4(COPA):c.1860A>T (p.Leu620=)
|
rs2101829145
|
|
NM_004371.4(COPA):c.1977+10A>G
|
|
|
NM_004371.4(COPA):c.1977+18A>T
|
|
|
NM_004371.4(COPA):c.1978-17C>T
|
rs775260404
|
|
NM_004371.4(COPA):c.1978-19G>T
|
rs770019968
|
|
NM_004371.4(COPA):c.1978-19_1978-18insGTTA
|
rs759114176
|
|
NM_004371.4(COPA):c.1997A>G (p.Lys666Arg)
|
|
|
NM_004371.4(COPA):c.2013G>A (p.Lys671=)
|
|
|
NM_004371.4(COPA):c.2031G>C (p.Leu677=)
|
rs778053084
|
|
NM_004371.4(COPA):c.2043C>T (p.Ala681=)
|
rs2101827768
|
|
NM_004371.4(COPA):c.2049G>A (p.Leu683=)
|
|
|
NM_004371.4(COPA):c.2055G>C (p.Gly685=)
|
|
|
NM_004371.4(COPA):c.2073A>G (p.Glu691=)
|
|
|
NM_004371.4(COPA):c.2116C>T (p.Leu706=)
|
rs2101827699
|
|
NM_004371.4(COPA):c.2167+13A>G
|
|
|
NM_004371.4(COPA):c.2168-10C>T
|
|
|
NM_004371.4(COPA):c.2168-11A>G
|
|
|
NM_004371.4(COPA):c.2168-15T>C
|
|
|
NM_004371.4(COPA):c.2168-20G>T
|
|
|
NM_004371.4(COPA):c.2206G>T (p.Ala736Ser)
|
|
|
NM_004371.4(COPA):c.2208C>G (p.Ala736=)
|
rs2101827451
|
|
NM_004371.4(COPA):c.2214C>T (p.Tyr738=)
|
|
|
NM_004371.4(COPA):c.2239C>T (p.Arg747Trp)
|
|
|
NM_004371.4(COPA):c.2241G>A (p.Arg747=)
|
|
|
NM_004371.4(COPA):c.2256T>C (p.Cys752=)
|
|
|
NM_004371.4(COPA):c.2263+11G>C
|
|
|
NM_004371.4(COPA):c.2263+15C>G
|
|
|
NM_004371.4(COPA):c.2264-4A>G
|
rs2101826103
|
|
NM_004371.4(COPA):c.2264-8C>A
|
|
|
NM_004371.4(COPA):c.2268C>T (p.Ser756=)
|
rs1571151158
|
|
NM_004371.4(COPA):c.228+11_228+12insTA
|
rs2101880166
|
|
NM_004371.4(COPA):c.228+14G>A
|
rs1647956444
|
|
NM_004371.4(COPA):c.228+8G>A
|
|
|
NM_004371.4(COPA):c.229-10G>C
|
rs777500215
|
|
NM_004371.4(COPA):c.2292C>G (p.Thr764=)
|
rs2101826069
|
|
NM_004371.4(COPA):c.2301A>G (p.Leu767=)
|
rs1377615825
|
|
NM_004371.4(COPA):c.2304T>C (p.Asp768=)
|
|
|
NM_004371.4(COPA):c.2314G>A (p.Glu772Lys)
|
rs1334352247
|
|
NM_004371.4(COPA):c.2353-11C>T
|
|
|
NM_004371.4(COPA):c.2353-14C>A
|
|
|
NM_004371.4(COPA):c.2353-20T>G
|
rs780717019
|
|
NM_004371.4(COPA):c.2378A>G (p.Lys793Arg)
|
|
|
NM_004371.4(COPA):c.2379G>A (p.Lys793=)
|
|
|
NM_004371.4(COPA):c.2397A>G (p.Ala799=)
|
|
|
NM_004371.4(COPA):c.2401A>G (p.Ile801Val)
|
|
|
NM_004371.4(COPA):c.2477-11dup
|
rs2101824686
|
|
NM_004371.4(COPA):c.2477-17G>C
|
|
|
NM_004371.4(COPA):c.2541G>A (p.Glu847=)
|
|
|
NM_004371.4(COPA):c.2559G>A (p.Leu853=)
|
rs2101824464
|
|
NM_004371.4(COPA):c.2567-10T>G
|
|
|
NM_004371.4(COPA):c.2567-17T>C
|
|
|
NM_004371.4(COPA):c.2567-5T>C
|
|
|
NM_004371.4(COPA):c.2586A>G (p.Thr862=)
|
rs2101824243
|
|
NM_004371.4(COPA):c.2587G>C (p.Glu863Gln)
|
|
|
NM_004371.4(COPA):c.2592T>A (p.Gly864=)
|
|
|
NM_004371.4(COPA):c.2619A>G (p.Gly873=)
|
rs1335692769
|
|
NM_004371.4(COPA):c.2630G>A (p.Gly877Glu)
|
|
|
NM_004371.4(COPA):c.264A>T (p.Thr88=)
|
rs751570700
|
|
NM_004371.4(COPA):c.2676+16A>T
|
|
|
NM_004371.4(COPA):c.2677-24_2677-18del
|
|
|
NM_004371.4(COPA):c.2677-9T>C
|
|
|
NM_004371.4(COPA):c.2692G>A (p.Ala898Thr)
|
|
|
NM_004371.4(COPA):c.270T>C (p.Leu90=)
|
|
|
NM_004371.4(COPA):c.2724G>A (p.Val908=)
|
rs1658305564
|
|
NM_004371.4(COPA):c.2754+16C>A
|
rs2101822622
|
|
NM_004371.4(COPA):c.2754+16C>T
|
rs2101822622
|
|
NM_004371.4(COPA):c.2755-16_2755-13del
|
|
|
NM_004371.4(COPA):c.2755-25_2755-20del
|
|
|
NM_004371.4(COPA):c.2823+9C>T
|
|
|
NM_004371.4(COPA):c.2838A>G (p.Gln946=)
|
|
|
NM_004371.4(COPA):c.2877C>T (p.Phe959=)
|
rs770192389
|
|
NM_004371.4(COPA):c.2909A>G (p.Tyr970Cys)
|
rs199945391
|
|
NM_004371.4(COPA):c.2919G>C (p.Leu973=)
|
|
|
NM_004371.4(COPA):c.2961-8C>T
|
rs2101820993
|
|
NM_004371.4(COPA):c.3006G>A (p.Lys1002=)
|
rs1416745317
|
|
NM_004371.4(COPA):c.3027G>A (p.Arg1009=)
|
rs1658258456
|
|
NM_004371.4(COPA):c.3054A>G (p.Thr1018=)
|
|
|
NM_004371.4(COPA):c.3080A>G (p.Glu1027Gly)
|
|
|
NM_004371.4(COPA):c.309+18C>T
|
|
|
NM_004371.4(COPA):c.309+9T>A
|
|
|
NM_004371.4(COPA):c.3093C>T (p.Ser1031=)
|
|
|
NM_004371.4(COPA):c.3147+11C>G
|
|
|
NM_004371.4(COPA):c.3147+9G>A
|
|
|
NM_004371.4(COPA):c.3147+9G>T
|
rs1571147645
|
|
NM_004371.4(COPA):c.3190T>C (p.Leu1064=)
|
|
|
NM_004371.4(COPA):c.3195C>G (p.Ser1065=)
|
rs756147600
|
|
NM_004371.4(COPA):c.3196G>T (p.Val1066Leu)
|
rs767991810
|
|
NM_004371.4(COPA):c.3231T>C (p.Thr1077=)
|
|
|
NM_004371.4(COPA):c.3248G>A (p.Arg1083His)
|
rs141211632
|
|
NM_004371.4(COPA):c.3248G>T (p.Arg1083Leu)
|
rs141211632
|
|
NM_004371.4(COPA):c.3258+11T>C
|
|
|
NM_004371.4(COPA):c.3258+12A>G
|
rs1396586263
|
|
NM_004371.4(COPA):c.3258+7T>C
|
|
|
NM_004371.4(COPA):c.3259-11C>T
|
|
|
NM_004371.4(COPA):c.3324C>T (p.Ala1108=)
|
rs1658227004
|
|
NM_004371.4(COPA):c.333C>T (p.Ala111=)
|
|
|
NM_004371.4(COPA):c.3384A>G (p.Leu1128=)
|
rs960224179
|
|
NM_004371.4(COPA):c.3393C>T (p.Leu1131=)
|
|
|
NM_004371.4(COPA):c.3402G>A (p.Lys1134=)
|
|
|
NM_004371.4(COPA):c.3413C>T (p.Ala1138Val)
|
|
|
NM_004371.4(COPA):c.3420+11C>T
|
rs2101819641
|
|
NM_004371.4(COPA):c.3420+12T>C
|
|
|
NM_004371.4(COPA):c.3420+14C>T
|
rs2101819626
|
|
NM_004371.4(COPA):c.3421-17C>T
|
rs769632251
|
|
NM_004371.4(COPA):c.3421-5C>T
|
rs925092668
|
|
NM_004371.4(COPA):c.3435G>A (p.Leu1145=)
|
rs2101818653
|
|
NM_004371.4(COPA):c.3458C>T (p.Thr1153Ile)
|
rs760894494
|
|
NM_004371.4(COPA):c.3493C>T (p.Pro1165Ser)
|
|
|
NM_004371.4(COPA):c.3495C>G (p.Pro1165=)
|
rs2101818577
|
|
NM_004371.4(COPA):c.3501C>T (p.Asp1167=)
|
|
|
NM_004371.4(COPA):c.3511G>A (p.Ala1171Thr)
|
rs776432073
|
|
NM_004371.4(COPA):c.3516A>G (p.Ser1172=)
|
|
|
NM_004371.4(COPA):c.3615+10_3615+11delinsTC
|
rs2101818310
|
|
NM_004371.4(COPA):c.3615+9T>C
|
rs1028533477
|
|
NM_004371.4(COPA):c.3616-12_3616-9del
|
|
|
NM_004371.4(COPA):c.3616-20C>T
|
rs369317260
|
|
NM_004371.4(COPA):c.3616-8T>C
|
|
|
NM_004371.4(COPA):c.3663G>A (p.Leu1221=)
|
rs2101817741
|
|
NM_004371.4(COPA):c.3671G>A (p.Arg1224His)
|
|
|
NM_004371.4(COPA):c.387-10T>C
|
|
|
NM_004371.4(COPA):c.390G>A (p.Val130=)
|
rs1028652764
|
|
NM_004371.4(COPA):c.40+10A>G
|
rs894066716
|
|
NM_004371.4(COPA):c.40+17G>A
|
rs7555490
|
|
NM_004371.4(COPA):c.41-11A>G
|
rs530698139
|
|
NM_004371.4(COPA):c.41-11A>T
|
|
|
NM_004371.4(COPA):c.41-13C>G
|
|
|
NM_004371.4(COPA):c.480C>A (p.Arg160=)
|
|
|
NM_004371.4(COPA):c.480C>T (p.Arg160=)
|
rs369092759
|
|
NM_004371.4(COPA):c.496+4_496+7dup
|
|
|
NM_004371.4(COPA):c.496+8G>T
|
rs1229778371
|
|
NM_004371.4(COPA):c.497-15_497-13del
|
|
|
NM_004371.4(COPA):c.497-18C>T
|
|
|
NM_004371.4(COPA):c.497-8C>T
|
|
|
NM_004371.4(COPA):c.540T>C (p.Asp180=)
|
|
|
NM_004371.4(COPA):c.597T>C (p.His199=)
|
rs2101863080
|
|
NM_004371.4(COPA):c.606+12T>A
|
|
|
NM_004371.4(COPA):c.606+17C>A
|
rs2101863056
|
|
NM_004371.4(COPA):c.607-11C>T
|
|
|
NM_004371.4(COPA):c.607-16C>T
|
|
|
NM_004371.4(COPA):c.607-5T>C
|
rs1167456164
|
|
NM_004371.4(COPA):c.607-8_607-7del
|
rs1553206195
|
|
NM_004371.4(COPA):c.609T>G (p.Gly203=)
|
rs1659399158
|
|
NM_004371.4(COPA):c.657T>G (p.Leu219=)
|
rs1571174206
|
|
NM_004371.4(COPA):c.660T>C (p.Ile220=)
|
rs1571174198
|
|
NM_004371.4(COPA):c.663A>G (p.Val221=)
|
rs762943238
|
|
NM_004371.4(COPA):c.690G>A (p.Lys230=)
|
rs864309710
|
|
NM_004371.4(COPA):c.706+12G>A
|
rs1469584340
|
|
NM_004371.4(COPA):c.706+13G>A
|
|
|
NM_004371.4(COPA):c.707-11T>C
|
|
|
NM_004371.4(COPA):c.707-15C>A
|
|
|
NM_004371.4(COPA):c.707-15C>G
|
rs1228231634
|
|
NM_004371.4(COPA):c.707-6C>A
|
|
|
NM_004371.4(COPA):c.766G>A (p.Val256Ile)
|
rs143714109
|
|
NM_004371.4(COPA):c.780C>T (p.Arg260=)
|
rs1323202872
|
|
NM_004371.4(COPA):c.787T>C (p.Leu263=)
|
|
|
NM_004371.4(COPA):c.792C>T (p.Ile264=)
|
|
|
NM_004371.4(COPA):c.804T>G (p.Ser268=)
|
|
|
NM_004371.4(COPA):c.842+10T>C
|
|
|
NM_004371.4(COPA):c.843-13G>A
|
|
|
NM_004371.4(COPA):c.843-15G>C
|
rs2101846009
|
|
NM_004371.4(COPA):c.918T>C (p.Phe306=)
|
|
|
NM_004371.4(COPA):c.925+7G>A
|
|
|
NM_004371.4(COPA):c.926-6C>T
|
|
|
NM_004371.4(COPA):c.926-6_926-5insCGA
|
rs1376174746
|
|
NM_004371.4(COPA):c.984T>A (p.Val328=)
|
|
|
NM_004371.4(COPA):c.993T>C (p.Asn331=)
|
rs2101844438
|
|
NM_004612.4(TGFBR1):c.*2086T>G
|
rs148063684
|
|
NM_004612.4(TGFBR1):c.*3430del
|
rs78078491
|
|
NM_004612.4(TGFBR1):c.328G>A (p.Glu110Lys)
|
rs1564149227
|
|
NM_004612.4(TGFBR1):c.529T>C (p.Leu177=)
|
rs1827279899
|
|
NM_004612.4(TGFBR1):c.52GCG[6] (p.Ala24_Ala26del)
|
rs11466445
|
|
NM_004612.4(TGFBR1):c.575-9dup
|
rs863223798
|
|
NM_004612.4(TGFBR1):c.8C>T (p.Ala3Val)
|
rs1564120661
|
|
NM_004752.4(GCM2):c.1177_1185dup (p.Ala393_Gln395dup)
|
rs551375300
|
|
NM_004752.4(GCM2):c.129C>G (p.Asp43Glu)
|
rs141188465
|
|
NM_004836.7(EIF2AK3):c.40CTG[10] (p.Leu20_Leu21dup)
|
rs1805190
|
|
NM_004944.4(DNASE1L3):c.519G>C (p.Thr173=)
|
rs138720416
|
|
NM_004985.5(KRAS):c.112-9C>T
|
rs727504298
|
|
NM_005157.6(ABL1):c.2035T>G (p.Ser679Ala)
|
rs201278085
|
|
NM_005188.4(CBL):c.107ACC[6] (p.His42del)
|
rs373212940
|
|
NM_005373.3(MPL):c.1011A>G (p.Glu337=)
|
rs1318577614
|
|
NM_005373.3(MPL):c.1017A>G (p.Lys339=)
|
|
|
NM_005373.3(MPL):c.1023T>C (p.Asn341=)
|
rs554597610
|
|
NM_005373.3(MPL):c.1026A>C (p.Pro342=)
|
|
|
NM_005373.3(MPL):c.1038C>T (p.Thr346=)
|
|
|
NM_005373.3(MPL):c.105A>G (p.Ser35=)
|
rs2153916223
|
|
NM_005373.3(MPL):c.1116G>A (p.Pro372=)
|
rs781733134
|
|
NM_005373.3(MPL):c.1119T>G (p.Gly373=)
|
rs748581599
|
|
NM_005373.3(MPL):c.1143C>T (p.Ser381=)
|
rs2153918638
|
|
NM_005373.3(MPL):c.1158C>T (p.His386=)
|
|
|
NM_005373.3(MPL):c.1165+12C>A
|
|
|
NM_005373.3(MPL):c.1165+18_1165+27dup
|
|
|
NM_005373.3(MPL):c.1165+18del
|
|
|
NM_005373.3(MPL):c.1166-13G>A
|
|
|
NM_005373.3(MPL):c.1166-14T>C
|
|
|
NM_005373.3(MPL):c.1166-5T>C
|
|
|
NM_005373.3(MPL):c.1166-6C>T
|
rs1647059033
|
|
NM_005373.3(MPL):c.1166-9T>C
|
|
|
NM_005373.3(MPL):c.1167G>A (p.Val389=)
|
rs2153918731
|
|
NM_005373.3(MPL):c.1176C>T (p.Pro392=)
|
|
|
NM_005373.3(MPL):c.1182A>C (p.Pro394=)
|
|
|
NM_005373.3(MPL):c.1185C>T (p.Asn395=)
|
|
|
NM_005373.3(MPL):c.1200G>A (p.Glu400=)
|
rs2153918759
|
|
NM_005373.3(MPL):c.1215T>C (p.His405=)
|
rs2153918763
|
|
NM_005373.3(MPL):c.1239A>G (p.Pro413=)
|
|
|
NM_005373.3(MPL):c.1242G>C (p.Ser414=)
|
rs544064034
|
|
NM_005373.3(MPL):c.1245C>A (p.Ser415=)
|
rs1002584503
|
|
NM_005373.3(MPL):c.1251A>C (p.Ala417=)
|
|
|
NM_005373.3(MPL):c.1254C>G (p.Ala418=)
|
rs1344383290
|
|
NM_005373.3(MPL):c.1260G>A (p.Glu420=)
|
|
|
NM_005373.3(MPL):c.1272A>G (p.Gln424=)
|
rs1647060081
|
|
NM_005373.3(MPL):c.1275C>G (p.Leu425=)
|
|
|
NM_005373.3(MPL):c.1299G>A (p.Gln433=)
|
|
|
NM_005373.3(MPL):c.1308+12C>T
|
|
|
NM_005373.3(MPL):c.1308+8C>A
|
rs376365109
|
|
NM_005373.3(MPL):c.1308+8C>G
|
rs376365109
|
|
NM_005373.3(MPL):c.1309-18G>A
|
|
|
NM_005373.3(MPL):c.1309-18G>T
|
|
|
NM_005373.3(MPL):c.1309-19C>T
|
|
|
NM_005373.3(MPL):c.1309-3dup
|
|
|
NM_005373.3(MPL):c.1309-6G>A
|
rs2153919199
|
|
NM_005373.3(MPL):c.1314G>C (p.Leu438=)
|
|
|
NM_005373.3(MPL):c.1320G>C (p.Pro440=)
|
rs2153919217
|
|
NM_005373.3(MPL):c.1326C>G (p.Leu442=)
|
|
|
NM_005373.3(MPL):c.1329G>T (p.Gly443=)
|
|
|
NM_005373.3(MPL):c.1338A>G (p.Gly446=)
|
rs530475779
|
|
NM_005373.3(MPL):c.1341G>C (p.Gly447=)
|
|
|
NM_005373.3(MPL):c.1345C>T (p.Leu449=)
|
rs2153919239
|
|
NM_005373.3(MPL):c.1351C>T (p.Leu451=)
|
|
|
NM_005373.3(MPL):c.1356C>T (p.Arg452=)
|
rs1647073349
|
|
NM_005373.3(MPL):c.1359G>A (p.Pro453=)
|
rs1262936822
|
|
NM_005373.3(MPL):c.1365T>C (p.Ser455=)
|
|
|
NM_005373.3(MPL):c.1371C>T (p.Tyr457=)
|
rs2153919254
|
|
NM_005373.3(MPL):c.1381C>T (p.Leu461=)
|
rs2153919261
|
|
NM_005373.3(MPL):c.1389C>T (p.Ala463=)
|
|
|
NM_005373.3(MPL):c.1395C>T (p.Leu465=)
|
|
|
NM_005373.3(MPL):c.1398C>T (p.Asn466=)
|
|
|
NM_005373.3(MPL):c.1401C>T (p.Gly467=)
|
rs2153919286
|
|
NM_005373.3(MPL):c.1407C>T (p.Thr469=)
|
rs2153919290
|
|
NM_005373.3(MPL):c.1419C>T (p.Pro473=)
|
|
|
NM_005373.3(MPL):c.1428G>T (p.Ser476=)
|
rs2153919294
|
|
NM_005373.3(MPL):c.1434G>A (p.Ser478=)
|
|
|
NM_005373.3(MPL):c.1434G>C (p.Ser478=)
|
rs916392437
|
|
NM_005373.3(MPL):c.1440A>G (p.Pro480=)
|
|
|
NM_005373.3(MPL):c.1452G>A (p.Glu484=)
|
|
|
NM_005373.3(MPL):c.1461C>A (p.Thr487=)
|
|
|
NM_005373.3(MPL):c.1461C>G (p.Thr487=)
|
|
|
NM_005373.3(MPL):c.1464G>A (p.Glu488=)
|
|
|
NM_005373.3(MPL):c.1468+10G>A
|
rs2153919323
|
|
NM_005373.3(MPL):c.1468+10G>T
|
|
|
NM_005373.3(MPL):c.1468+11C>A
|
|
|
NM_005373.3(MPL):c.1468+14C>G
|
|
|
NM_005373.3(MPL):c.1468+14C>T
|
|
|
NM_005373.3(MPL):c.1468+6dup
|
|
|
NM_005373.3(MPL):c.1468+7C>A
|
|
|
NM_005373.3(MPL):c.1468+7C>G
|
rs1360335718
|
|
NM_005373.3(MPL):c.1468+9A>G
|
|
|
NM_005373.3(MPL):c.1469-16C>T
|
|
|
NM_005373.3(MPL):c.1469-17C>A
|
|
|
NM_005373.3(MPL):c.1469-17C>T
|
|
|
NM_005373.3(MPL):c.1469-7C>G
|
rs202232618
|
|
NM_005373.3(MPL):c.147T>C (p.Thr49=)
|
|
|
NM_005373.3(MPL):c.1480T>C (p.Leu494=)
|
|
|
NM_005373.3(MPL):c.1491T>C (p.Ala497=)
|
|
|
NM_005373.3(MPL):c.1506G>A (p.Leu502=)
|
|
|
NM_005373.3(MPL):c.150C>T (p.Cys50=)
|
|
|
NM_005373.3(MPL):c.1524G>A (p.Leu508=)
|
|
|
NM_005373.3(MPL):c.1527C>A (p.Gly509=)
|
rs1570472144
|
|
NM_005373.3(MPL):c.1527C>T (p.Gly509=)
|
|
|
NM_005373.3(MPL):c.1563C>T (p.Tyr521=)
|
rs1392072769
|
|
NM_005373.3(MPL):c.1565+11C>T
|
|
|
NM_005373.3(MPL):c.1565+12G>A
|
|
|
NM_005373.3(MPL):c.1565+12G>C
|
|
|
NM_005373.3(MPL):c.1565+18C>A
|
|
|
NM_005373.3(MPL):c.1565+19dup
|
|
|
NM_005373.3(MPL):c.1566-14T>C
|
|
|
NM_005373.3(MPL):c.1566-15T>C
|
|
|
NM_005373.3(MPL):c.1566-16C>T
|
|
|
NM_005373.3(MPL):c.1566-19T>C
|
|
|
NM_005373.3(MPL):c.1566-6C>T
|
|
|
NM_005373.3(MPL):c.1566-7C>T
|
rs375344403
|
|
NM_005373.3(MPL):c.1572G>C (p.Leu524=)
|
rs2153919916
|
|
NM_005373.3(MPL):c.1584G>A (p.Leu528=)
|
rs1380383088
|
|
NM_005373.3(MPL):c.159T>C (p.Asp53=)
|
|
|
NM_005373.3(MPL):c.1603C>T (p.Leu535=)
|
|
|
NM_005373.3(MPL):c.1626C>T (p.Tyr542=)
|
|
|
NM_005373.3(MPL):c.162G>A (p.Glu54=)
|
|
|
NM_005373.3(MPL):c.1635C>T (p.Asp545=)
|
rs374221815
|
|
NM_005373.3(MPL):c.1640C>T (p.Ala547Val)
|
|
|
NM_005373.3(MPL):c.1647G>A (p.Leu549=)
|
|
|
NM_005373.3(MPL):c.1653+10C>T
|
rs2153919956
|
|
NM_005373.3(MPL):c.1653+13C>T
|
|
|
NM_005373.3(MPL):c.1653+20_1653+21del
|
|
|
NM_005373.3(MPL):c.1653+7G>A
|
rs2153919952
|
|
NM_005373.3(MPL):c.1654-11A>G
|
|
|
NM_005373.3(MPL):c.1654-20C>T
|
|
|
NM_005373.3(MPL):c.1654-5C>A
|
rs1020318873
|
|
NM_005373.3(MPL):c.1654-5C>T
|
rs1020318873
|
|
NM_005373.3(MPL):c.1654-9C>T
|
rs2153920018
|
|
NM_005373.3(MPL):c.1662C>T (p.Ala554=)
|
|
|
NM_005373.3(MPL):c.1665A>C (p.Thr555=)
|
|
|
NM_005373.3(MPL):c.1677C>T (p.Thr559=)
|
|
|
NM_005373.3(MPL):c.1680T>C (p.Cys560=)
|
|
|
NM_005373.3(MPL):c.1683A>G (p.Glu561=)
|
rs202022473
|
|
NM_005373.3(MPL):c.1686A>G (p.Glu562=)
|
|
|
NM_005373.3(MPL):c.1701C>T (p.Leu567=)
|
|
|
NM_005373.3(MPL):c.1719G>A (p.Lys573=)
|
rs774393112
|
|
NM_005373.3(MPL):c.1728G>A (p.Glu576=)
|
|
|
NM_005373.3(MPL):c.1743C>G (p.Pro581=)
|
|
|
NM_005373.3(MPL):c.1761C>T (p.Ala587=)
|
rs1647101111
|
|
NM_005373.3(MPL):c.1782G>A (p.Leu594=)
|
|
|
NM_005373.3(MPL):c.1795C>T (p.Leu599=)
|
|
|
NM_005373.3(MPL):c.1809C>G (p.Pro603=)
|
rs374553815
|
|
NM_005373.3(MPL):c.1812G>C (p.Leu604=)
|
|
|
NM_005373.3(MPL):c.1815T>C (p.Ser605=)
|
|
|
NM_005373.3(MPL):c.1818G>A (p.Val606=)
|
rs2153920103
|
|
NM_005373.3(MPL):c.1827C>A (p.Pro609=)
|
|
|
NM_005373.3(MPL):c.1841G>C (p.Gly614Ala)
|
|
|
NM_005373.3(MPL):c.1842G>A (p.Gly614=)
|
|
|
NM_005373.3(MPL):c.1857C>T (p.Thr619=)
|
rs2153920125
|
|
NM_005373.3(MPL):c.1860C>T (p.His620=)
|
|
|
NM_005373.3(MPL):c.1893T>C (p.Tyr631=)
|
|
|
NM_005373.3(MPL):c.1905T>C (p.Pro635=)
|
|
|
NM_005373.3(MPL):c.192G>A (p.Gln64=)
|
|
|
NM_005373.3(MPL):c.196C>T (p.Leu66=)
|
rs886046349
|
|
NM_005373.3(MPL):c.198G>A (p.Leu66=)
|
rs1647007308
|
|
NM_005373.3(MPL):c.207C>T (p.Tyr69=)
|
rs2153916283
|
|
NM_005373.3(MPL):c.212+10G>A
|
|
|
NM_005373.3(MPL):c.212+17G>A
|
|
|
NM_005373.3(MPL):c.212+17G>T
|
|
|
NM_005373.3(MPL):c.212+8C>T
|
|
|
NM_005373.3(MPL):c.213-12C>T
|
|
|
NM_005373.3(MPL):c.213-20G>C
|
|
|
NM_005373.3(MPL):c.213-6C>T
|
rs1647009547
|
|
NM_005373.3(MPL):c.213-7C>T
|
rs2153916416
|
|
NM_005373.3(MPL):c.219G>A (p.Lys73=)
|
|
|
NM_005373.3(MPL):c.234C>G (p.Pro78=)
|
|
|
NM_005373.3(MPL):c.234C>T (p.Pro78=)
|
|
|
NM_005373.3(MPL):c.255C>T (p.Pro85=)
|
rs1557463066
|
|
NM_005373.3(MPL):c.264A>T (p.Gly88=)
|
|
|
NM_005373.3(MPL):c.279C>T (p.Cys93=)
|
rs2153916471
|
|
NM_005373.3(MPL):c.27C>T (p.Val9=)
|
rs1343948119
|
|
NM_005373.3(MPL):c.306T>A (p.Arg102=)
|
rs140354935
|
|
NM_005373.3(MPL):c.306T>C (p.Arg102=)
|
|
|
NM_005373.3(MPL):c.309C>A (p.Leu103=)
|
|
|
NM_005373.3(MPL):c.315T>C (p.Phe105=)
|
rs2153916507
|
|
NM_005373.3(MPL):c.333G>A (p.Val111=)
|
rs1570464811
|
|
NM_005373.3(MPL):c.339T>C (p.Asn113=)
|
|
|
NM_005373.3(MPL):c.366G>A (p.Gln122=)
|
|
|
NM_005373.3(MPL):c.367C>A (p.Arg123=)
|
|
|
NM_005373.3(MPL):c.391+13C>T
|
|
|
NM_005373.3(MPL):c.391+18G>A
|
|
|
NM_005373.3(MPL):c.391+19T>C
|
|
|
NM_005373.3(MPL):c.391+19T>G
|
|
|
NM_005373.3(MPL):c.392-13G>C
|
|
|
NM_005373.3(MPL):c.392-15_392-14del
|
|
|
NM_005373.3(MPL):c.392-16C>T
|
|
|
NM_005373.3(MPL):c.392-20G>A
|
|
|
NM_005373.3(MPL):c.392-8G>C
|
|
|
NM_005373.3(MPL):c.392-8G>T
|
|
|
NM_005373.3(MPL):c.392-9T>C
|
rs2153916670
|
|
NM_005373.3(MPL):c.399G>A (p.Pro133=)
|
rs768283382
|
|
NM_005373.3(MPL):c.402T>C (p.Ala134=)
|
|
|
NM_005373.3(MPL):c.408C>A (p.Pro136=)
|
rs146579984
|
|
NM_005373.3(MPL):c.408C>G (p.Pro136=)
|
rs146579984
|
|
NM_005373.3(MPL):c.420G>A (p.Lys140=)
|
rs2153916692
|
|
NM_005373.3(MPL):c.423C>T (p.Ala141=)
|
rs2153916694
|
|
NM_005373.3(MPL):c.42C>T (p.Leu14=)
|
rs2153916109
|
|
NM_005373.3(MPL):c.432G>A (p.Gly144=)
|
|
|
NM_005373.3(MPL):c.432G>C (p.Gly144=)
|
rs2153916702
|
|
NM_005373.3(MPL):c.444G>T (p.Gly148=)
|
|
|
NM_005373.3(MPL):c.447A>G (p.Glu149=)
|
rs2153916718
|
|
NM_005373.3(MPL):c.459C>T (p.Ser153=)
|
|
|
NM_005373.3(MPL):c.465G>A (p.Glu155=)
|
|
|
NM_005373.3(MPL):c.492C>T (p.Phe164=)
|
rs1343497787
|
|
NM_005373.3(MPL):c.493C>T (p.Leu165=)
|
|
|
NM_005373.3(MPL):c.501C>T (p.Tyr167=)
|
rs1647014738
|
|
NM_005373.3(MPL):c.51T>G (p.Pro17=)
|
rs2153916114
|
|
NM_005373.3(MPL):c.525T>C (p.Asp175=)
|
|
|
NM_005373.3(MPL):c.531G>A (p.Lys177=)
|
rs2153916772
|
|
NM_005373.3(MPL):c.540T>C (p.Thr180=)
|
rs2153916776
|
|
NM_005373.3(MPL):c.549G>T (p.Thr183=)
|
|
|
NM_005373.3(MPL):c.561G>A (p.Leu187=)
|
rs1570465392
|
|
NM_005373.3(MPL):c.567C>T (p.Ala189=)
|
|
|
NM_005373.3(MPL):c.576C>T (p.Thr192=)
|
rs2153916800
|
|
NM_005373.3(MPL):c.579C>T (p.Cys193=)
|
rs747962998
|
|
NM_005373.3(MPL):c.57C>A (p.Asn19Lys)
|
|
|
NM_005373.3(MPL):c.585T>C (p.Pro195=)
|
|
|
NM_005373.3(MPL):c.639G>A (p.Gln213=)
|
|
|
NM_005373.3(MPL):c.663A>G (p.Gly221=)
|
rs1647016206
|
|
NM_005373.3(MPL):c.669G>A (p.Lys223=)
|
|
|
NM_005373.3(MPL):c.684T>C (p.Ser228=)
|
rs766536759
|
|
NM_005373.3(MPL):c.690+10C>G
|
rs1160632727
|
|
NM_005373.3(MPL):c.690+15T>C
|
|
|
NM_005373.3(MPL):c.690+19G>A
|
|
|
NM_005373.3(MPL):c.690+20C>T
|
|
|
NM_005373.3(MPL):c.690+7T>C
|
|
|
NM_005373.3(MPL):c.690+8_690+12dup
|
|
|
NM_005373.3(MPL):c.691-12T>A
|
|
|
NM_005373.3(MPL):c.691-16G>C
|
|
|
NM_005373.3(MPL):c.691-17G>A
|
|
|
NM_005373.3(MPL):c.691-4C>T
|
|
|
NM_005373.3(MPL):c.691-7T>C
|
|
|
NM_005373.3(MPL):c.696A>G (p.Ser232=)
|
|
|
NM_005373.3(MPL):c.696A>T (p.Ser232=)
|
rs767614158
|
|
NM_005373.3(MPL):c.69C>A (p.Val23=)
|
rs2153916126
|
|
NM_005373.3(MPL):c.6C>T (p.Pro2=)
|
rs2153916091
|
|
NM_005373.3(MPL):c.723C>T (p.Cys241=)
|
rs2153917030
|
|
NM_005373.3(MPL):c.768G>A (p.Leu256=)
|
rs1570465882
|
|
NM_005373.3(MPL):c.771C>A (p.Arg257=)
|
rs1553127722
|
|
NM_005373.3(MPL):c.774C>T (p.Ser258=)
|
rs746721066
|
|
NM_005373.3(MPL):c.783T>C (p.Asp261=)
|
rs749648068
|
|
NM_005373.3(MPL):c.79+10A>C
|
|
|
NM_005373.3(MPL):c.79+15G>A
|
|
|
NM_005373.3(MPL):c.79+15G>C
|
|
|
NM_005373.3(MPL):c.79+16G>T
|
|
|
NM_005373.3(MPL):c.79+17G>A
|
|
|
NM_005373.3(MPL):c.79+17G>T
|
|
|
NM_005373.3(MPL):c.79+18T>C
|
|
|
NM_005373.3(MPL):c.79+19G>A
|
|
|
NM_005373.3(MPL):c.79+20G>A
|
|
|
NM_005373.3(MPL):c.79+7T>C
|
rs2153916135
|
|
NM_005373.3(MPL):c.79+8G>C
|
|
|
NM_005373.3(MPL):c.79+9C>G
|
|
|
NM_005373.3(MPL):c.79+9C>T
|
|
|
NM_005373.3(MPL):c.80-11C>A
|
|
|
NM_005373.3(MPL):c.80-15C>T
|
|
|
NM_005373.3(MPL):c.80-17C>T
|
|
|
NM_005373.3(MPL):c.80-19C>T
|
|
|
NM_005373.3(MPL):c.80-7T>C
|
rs2153916207
|
|
NM_005373.3(MPL):c.80-9G>T
|
rs2153916206
|
|
NM_005373.3(MPL):c.837C>T (p.Asp279=)
|
|
|
NM_005373.3(MPL):c.853+10C>G
|
|
|
NM_005373.3(MPL):c.853+10C>T
|
|
|
NM_005373.3(MPL):c.853+10del
|
|
|
NM_005373.3(MPL):c.853+15G>A
|
|
|
NM_005373.3(MPL):c.853+18T>C
|
|
|
NM_005373.3(MPL):c.853+18T>G
|
|
|
NM_005373.3(MPL):c.853+18del
|
|
|
NM_005373.3(MPL):c.853+7C>A
|
rs2153917115
|
|
NM_005373.3(MPL):c.854-14T>C
|
|
|
NM_005373.3(MPL):c.854-15C>T
|
|
|
NM_005373.3(MPL):c.870A>G (p.Gln290=)
|
|
|
NM_005373.3(MPL):c.876T>C (p.Phe292=)
|
|
|
NM_005373.3(MPL):c.879C>G (p.Thr293=)
|
|
|
NM_005373.3(MPL):c.921C>T (p.Asp307=)
|
rs764243911
|
|
NM_005373.3(MPL):c.933C>T (p.Ser311=)
|
rs2153917221
|
|
NM_005373.3(MPL):c.939C>G (p.Gly313=)
|
|
|
NM_005373.3(MPL):c.957G>A (p.Arg319=)
|
|
|
NM_005373.3(MPL):c.963G>C (p.Arg321=)
|
|
|
NM_005373.3(MPL):c.96A>C (p.Ala32=)
|
|
|
NM_005373.3(MPL):c.96A>G (p.Ala32=)
|
rs1647006420
|
|
NM_005373.3(MPL):c.980+14T>C
|
|
|
NM_005373.3(MPL):c.980+16C>T
|
|
|
NM_005373.3(MPL):c.981-11C>T
|
|
|
NM_005373.3(MPL):c.987C>A (p.Pro329=)
|
rs144491350
|
|
NM_005373.3(MPL):c.987C>G (p.Pro329=)
|
|
|
NM_005373.3(MPL):c.999C>T (p.Asn333=)
|
rs1053884539
|
|
NM_005373.3(MPL):c.9C>G (p.Ser3=)
|
|
|
NM_005529.7(HSPG2):c.8545G>T (p.Val2849Leu)
|
rs147114700
|
|
NM_005902.4(SMAD3):c.*1790G>A
|
rs530788405
|
|
NM_005902.4(SMAD3):c.*3129C>T
|
rs886051424
|
|
NM_005902.4(SMAD3):c.*4445C>T
|
rs886051434
|
|
NM_005902.4(SMAD3):c.*609A>G
|
rs564556206
|
|
NM_005902.4(SMAD3):c.-115C>T
|
rs556470157
|
|
NM_005902.4(SMAD3):c.1026C>T (p.Ile342=)
|
rs1567003450
|
|
NM_005902.4(SMAD3):c.30G>T (p.Pro10=)
|
|
|
NM_006258.4(PRKG1):c.1174-15C>T
|
rs41280442
|
|
NM_006258.4(PRKG1):c.1174-7_1174-4del
|
rs762325343
|
|
NM_006258.4(PRKG1):c.1545+17C>A
|
rs745349839
|
|
NM_006397.3(RNASEH2A):c.102T>C (p.Asp34=)
|
|
|
NM_006397.3(RNASEH2A):c.120C>A (p.Pro40=)
|
rs754428850
|
|
NM_006397.3(RNASEH2A):c.120C>G (p.Pro40=)
|
rs754428850
|
|
NM_006397.3(RNASEH2A):c.120C>T (p.Pro40=)
|
|
|
NM_006397.3(RNASEH2A):c.123G>C (p.Val41=)
|
|
|
NM_006397.3(RNASEH2A):c.127+10T>A
|
|
|
NM_006397.3(RNASEH2A):c.127+12G>T
|
|
|
NM_006397.3(RNASEH2A):c.127+15C>T
|
|
|
NM_006397.3(RNASEH2A):c.127+17A>G
|
rs751674576
|
|
NM_006397.3(RNASEH2A):c.127+7C>T
|
|
|
NM_006397.3(RNASEH2A):c.127+8C>T
|
|
|
NM_006397.3(RNASEH2A):c.127+9C>T
|
|
|
NM_006397.3(RNASEH2A):c.128-11C>G
|
rs751799260
|
|
NM_006397.3(RNASEH2A):c.128-12C>T
|
|
|
NM_006397.3(RNASEH2A):c.128-13C>A
|
|
|
NM_006397.3(RNASEH2A):c.128-14C>A
|
|
|
NM_006397.3(RNASEH2A):c.128-20C>T
|
|
|
NM_006397.3(RNASEH2A):c.128-20del
|
|
|
NM_006397.3(RNASEH2A):c.128-4C>A
|
|
|
NM_006397.3(RNASEH2A):c.128-4C>G
|
|
|
NM_006397.3(RNASEH2A):c.132C>A (p.Pro44=)
|
|
|
NM_006397.3(RNASEH2A):c.138C>T (p.Val46=)
|
|
|
NM_006397.3(RNASEH2A):c.141C>T (p.Tyr47=)
|
rs951143348
|
|
NM_006397.3(RNASEH2A):c.15G>A (p.Glu5=)
|
|
|
NM_006397.3(RNASEH2A):c.169C>T (p.Leu57=)
|
|
|
NM_006397.3(RNASEH2A):c.16C>T (p.Leu6=)
|
rs2145823986
|
|
NM_006397.3(RNASEH2A):c.177T>C (p.Asp59=)
|
|
|
NM_006397.3(RNASEH2A):c.186G>A (p.Ala62=)
|
|
|
NM_006397.3(RNASEH2A):c.186G>T (p.Ala62=)
|
|
|
NM_006397.3(RNASEH2A):c.187C>T (p.Leu63=)
|
|
|
NM_006397.3(RNASEH2A):c.18G>A (p.Leu6=)
|
|
|
NM_006397.3(RNASEH2A):c.199+17C>G
|
rs543028866
|
|
NM_006397.3(RNASEH2A):c.199+18G>A
|
|
|
NM_006397.3(RNASEH2A):c.199+8C>T
|
rs200834484
|
|
NM_006397.3(RNASEH2A):c.199+9G>A
|
|
|
NM_006397.3(RNASEH2A):c.200-12A>T
|
rs2145824725
|
|
NM_006397.3(RNASEH2A):c.200-15C>T
|
|
|
NM_006397.3(RNASEH2A):c.200-16C>G
|
|
|
NM_006397.3(RNASEH2A):c.200-20T>G
|
|
|
NM_006397.3(RNASEH2A):c.200-6_200-4del
|
rs1181055837
|
|
NM_006397.3(RNASEH2A):c.207G>A (p.Lys69=)
|
|
|
NM_006397.3(RNASEH2A):c.210C>A (p.Thr70=)
|
rs1335849179
|
|
NM_006397.3(RNASEH2A):c.210C>T (p.Thr70=)
|
rs1335849179
|
|
NM_006397.3(RNASEH2A):c.213A>G (p.Leu71=)
|
rs779678489
|
|
NM_006397.3(RNASEH2A):c.214T>C (p.Leu72=)
|
|
|
NM_006397.3(RNASEH2A):c.219G>A (p.Glu73=)
|
|
|
NM_006397.3(RNASEH2A):c.21G>A (p.Glu7=)
|
|
|
NM_006397.3(RNASEH2A):c.228G>T (p.Arg76=)
|
rs1568386709
|
|
NM_006397.3(RNASEH2A):c.231A>G (p.Glu77=)
|
|
|
NM_006397.3(RNASEH2A):c.234G>A (p.Arg78=)
|
|
|
NM_006397.3(RNASEH2A):c.237G>A (p.Leu79=)
|
|
|
NM_006397.3(RNASEH2A):c.276G>C (p.Ala92=)
|
|
|
NM_006397.3(RNASEH2A):c.276G>T (p.Ala92=)
|
|
|
NM_006397.3(RNASEH2A):c.286C>T (p.Leu96=)
|
rs2145824903
|
|
NM_006397.3(RNASEH2A):c.297C>T (p.Asn99=)
|
|
|
NM_006397.3(RNASEH2A):c.323+10C>T
|
|
|
NM_006397.3(RNASEH2A):c.323+11C>T
|
|
|
NM_006397.3(RNASEH2A):c.323+13C>T
|
rs748345143
|
|
NM_006397.3(RNASEH2A):c.324-10C>G
|
|
|
NM_006397.3(RNASEH2A):c.324-10C>T
|
rs773495954
|
|
NM_006397.3(RNASEH2A):c.324-17T>G
|
|
|
NM_006397.3(RNASEH2A):c.324-37_324-10del
|
|
|
NM_006397.3(RNASEH2A):c.324-5C>G
|
|
|
NM_006397.3(RNASEH2A):c.324-6C>A
|
rs1599533222
|
|
NM_006397.3(RNASEH2A):c.324-7A>G
|
|
|
NM_006397.3(RNASEH2A):c.333C>T (p.Tyr111=)
|
rs764935201
|
|
NM_006397.3(RNASEH2A):c.336C>T (p.Asn112=)
|
rs906764918
|
|
NM_006397.3(RNASEH2A):c.345C>T (p.Ser115=)
|
|
|
NM_006397.3(RNASEH2A):c.346C>T (p.Leu116=)
|
rs1599533254
|
|
NM_006397.3(RNASEH2A):c.348G>A (p.Leu116=)
|
|
|
NM_006397.3(RNASEH2A):c.351A>G (p.Ser117=)
|
|
|
NM_006397.3(RNASEH2A):c.354T>C (p.His118=)
|
|
|
NM_006397.3(RNASEH2A):c.363C>T (p.Ala121=)
|
|
|
NM_006397.3(RNASEH2A):c.378G>A (p.Gln126=)
|
|
|
NM_006397.3(RNASEH2A):c.381T>C (p.Tyr127=)
|
rs1381895095
|
|
NM_006397.3(RNASEH2A):c.385T>C (p.Leu129=)
|
|
|
NM_006397.3(RNASEH2A):c.411+10C>T
|
|
|
NM_006397.3(RNASEH2A):c.411+12_411+13del
|
rs892250160
|
|
NM_006397.3(RNASEH2A):c.411+15A>T
|
|
|
NM_006397.3(RNASEH2A):c.412-11T>G
|
|
|
NM_006397.3(RNASEH2A):c.412-18T>C
|
|
|
NM_006397.3(RNASEH2A):c.412-20T>C
|
|
|
NM_006397.3(RNASEH2A):c.412-7G>A
|
|
|
NM_006397.3(RNASEH2A):c.414A>G (p.Val138=)
|
|
|
NM_006397.3(RNASEH2A):c.426C>G (p.Thr142=)
|
|
|
NM_006397.3(RNASEH2A):c.441G>A (p.Glu147=)
|
|
|
NM_006397.3(RNASEH2A):c.447C>T (p.Tyr149=)
|
|
|
NM_006397.3(RNASEH2A):c.450G>A (p.Gln150=)
|
|
|
NM_006397.3(RNASEH2A):c.456G>A (p.Arg152=)
|
|
|
NM_006397.3(RNASEH2A):c.459G>C (p.Leu153=)
|
|
|
NM_006397.3(RNASEH2A):c.45C>A (p.Arg15=)
|
|
|
NM_006397.3(RNASEH2A):c.483G>A (p.Glu161=)
|
rs754899919
|
|
NM_006397.3(RNASEH2A):c.519G>A (p.Pro173=)
|
|
|
NM_006397.3(RNASEH2A):c.522G>A (p.Val174=)
|
|
|
NM_006397.3(RNASEH2A):c.549+13C>A
|
|
|
NM_006397.3(RNASEH2A):c.549+17C>T
|
rs1354190203
|
|
NM_006397.3(RNASEH2A):c.549+19A>G
|
|
|
NM_006397.3(RNASEH2A):c.549+19A>T
|
|
|
NM_006397.3(RNASEH2A):c.549+9C>T
|
|
|
NM_006397.3(RNASEH2A):c.54G>T (p.Ser18=)
|
|
|
NM_006397.3(RNASEH2A):c.550-13G>A
|
rs560268310
|
|
NM_006397.3(RNASEH2A):c.550-16C>G
|
|
|
NM_006397.3(RNASEH2A):c.550-16C>T
|
|
|
NM_006397.3(RNASEH2A):c.550-4A>C
|
|
|
NM_006397.3(RNASEH2A):c.550-8G>A
|
|
|
NM_006397.3(RNASEH2A):c.550-9T>C
|
|
|
NM_006397.3(RNASEH2A):c.550-9T>G
|
|
|
NM_006397.3(RNASEH2A):c.567C>G (p.Ala189=)
|
|
|
NM_006397.3(RNASEH2A):c.567C>T (p.Ala189=)
|
|
|
NM_006397.3(RNASEH2A):c.591G>A (p.Glu197=)
|
|
|
NM_006397.3(RNASEH2A):c.595C>T (p.Leu199=)
|
|
|
NM_006397.3(RNASEH2A):c.603C>T (p.Asp201=)
|
rs868054183
|
|
NM_006397.3(RNASEH2A):c.604T>C (p.Leu202=)
|
|
|
NM_006397.3(RNASEH2A):c.605_606inv (p.Leu202Ser)
|
|
|
NM_006397.3(RNASEH2A):c.612T>C (p.Thr204=)
|
|
|
NM_006397.3(RNASEH2A):c.615T>C (p.Asp205=)
|
|
|
NM_006397.3(RNASEH2A):c.627C>G (p.Gly209=)
|
|
|
NM_006397.3(RNASEH2A):c.637+12C>T
|
|
|
NM_006397.3(RNASEH2A):c.637+13G>T
|
|
|
NM_006397.3(RNASEH2A):c.637+18C>T
|
|
|
NM_006397.3(RNASEH2A):c.637+19A>C
|
rs375522285
|
|
NM_006397.3(RNASEH2A):c.637+19A>G
|
|
|
NM_006397.3(RNASEH2A):c.637+9A>G
|
|
|
NM_006397.3(RNASEH2A):c.638-14C>T
|
|
|
NM_006397.3(RNASEH2A):c.638-15C>T
|
|
|
NM_006397.3(RNASEH2A):c.638-4C>T
|
|
|
NM_006397.3(RNASEH2A):c.63C>T (p.Pro21=)
|
rs747090950
|
|
NM_006397.3(RNASEH2A):c.642C>T (p.Pro214=)
|
|
|
NM_006397.3(RNASEH2A):c.648A>G (p.Thr216=)
|
|
|
NM_006397.3(RNASEH2A):c.660G>A (p.Leu220=)
|
|
|
NM_006397.3(RNASEH2A):c.672G>A (p.Val224=)
|
|
|
NM_006397.3(RNASEH2A):c.702C>A (p.Val234=)
|
|
|
NM_006397.3(RNASEH2A):c.705G>A (p.Arg235=)
|
rs1969097772
|
|
NM_006397.3(RNASEH2A):c.705G>C (p.Arg235=)
|
|
|
NM_006397.3(RNASEH2A):c.717C>A (p.Arg239=)
|
|
|
NM_006397.3(RNASEH2A):c.723C>T (p.Ala241=)
|
|
|
NM_006397.3(RNASEH2A):c.747G>C (p.Ala249=)
|
|
|
NM_006397.3(RNASEH2A):c.747G>T (p.Ala249=)
|
rs144494263
|
|
NM_006397.3(RNASEH2A):c.761+11T>C
|
|
|
NM_006397.3(RNASEH2A):c.761+12G>A
|
|
|
NM_006397.3(RNASEH2A):c.761+12G>T
|
rs1969099251
|
|
NM_006397.3(RNASEH2A):c.761+13G>A
|
|
|
NM_006397.3(RNASEH2A):c.761+14A>T
|
|
|
NM_006397.3(RNASEH2A):c.761+18C>T
|
rs2145830337
|
|
NM_006397.3(RNASEH2A):c.761+20T>C
|
rs2145830339
|
|
NM_006397.3(RNASEH2A):c.761+20dup
|
|
|
NM_006397.3(RNASEH2A):c.762-11C>G
|
|
|
NM_006397.3(RNASEH2A):c.762-14C>A
|
|
|
NM_006397.3(RNASEH2A):c.762-18A>G
|
|
|
NM_006397.3(RNASEH2A):c.762-5C>T
|
|
|
NM_006397.3(RNASEH2A):c.762-9C>A
|
|
|
NM_006397.3(RNASEH2A):c.774A>G (p.Ala258=)
|
rs1599537429
|
|
NM_006397.3(RNASEH2A):c.792A>G (p.Gly264=)
|
rs1969102244
|
|
NM_006397.3(RNASEH2A):c.813C>T (p.Tyr271=)
|
|
|
NM_006397.3(RNASEH2A):c.816C>T (p.Phe272=)
|
rs2145830480
|
|
NM_006397.3(RNASEH2A):c.81G>A (p.Glu27=)
|
|
|
NM_006397.3(RNASEH2A):c.822T>C (p.Asn274=)
|
|
|
NM_006397.3(RNASEH2A):c.825A>G (p.Glu275=)
|
|
|
NM_006397.3(RNASEH2A):c.828G>C (p.Gly276=)
|
|
|
NM_006397.3(RNASEH2A):c.843C>T (p.Pro281=)
|
|
|
NM_006397.3(RNASEH2A):c.852C>A (p.Ser284=)
|
|
|
NM_006397.3(RNASEH2A):c.864C>T (p.Phe288=)
|
|
|
NM_006397.3(RNASEH2A):c.870A>G (p.Glu290=)
|
|
|
NM_006397.3(RNASEH2A):c.877C>T (p.Leu293=)
|
|
|
NM_006397.3(RNASEH2A):c.87C>T (p.Cys29=)
|
|
|
NM_006397.3(RNASEH2A):c.882G>A (p.Glu294=)
|
|
|
NM_006397.3(RNASEH2A):c.96C>A (p.Gly32=)
|
|
|
NM_006579.3(EBP):c.-74+3G>C
|
rs188270695
|
|
NM_006883.2(SHOX):c.-432-14_-432-7del
|
rs767085863
|
|
NM_006912.6(RIT1):c.491C>G (p.Ser164Cys)
|
|
|
NM_006949.4(STXBP2):c.1167C>T (p.Ile389=)
|
rs139160342
|
|
NM_012275.3(IL36RN):c.115+14C>T
|
|
|
NM_012275.3(IL36RN):c.115+9T>C
|
|
|
NM_012275.3(IL36RN):c.116-11C>T
|
|
|
NM_012275.3(IL36RN):c.116-5C>G
|
rs2105069232
|
|
NM_012275.3(IL36RN):c.116-6C>T
|
|
|
NM_012275.3(IL36RN):c.144G>C (p.Arg48=)
|
|
|
NM_012275.3(IL36RN):c.148C>T (p.Leu50=)
|
|
|
NM_012275.3(IL36RN):c.165C>A (p.Ser55=)
|
rs2105069324
|
|
NM_012275.3(IL36RN):c.165C>T (p.Ser55=)
|
|
|
NM_012275.3(IL36RN):c.18G>A (p.Ala6=)
|
rs577280688
|
|
NM_012275.3(IL36RN):c.210T>C (p.Cys70=)
|
|
|
NM_012275.3(IL36RN):c.243+16T>C
|
rs2105069464
|
|
NM_012275.3(IL36RN):c.244-10C>A
|
|
|
NM_012275.3(IL36RN):c.244-13C>A
|
rs762586699
|
|
NM_012275.3(IL36RN):c.244-17C>T
|
|
|
NM_012275.3(IL36RN):c.244-9_244-6del
|
rs749941611
|
|
NM_012275.3(IL36RN):c.282A>G (p.Glu94=)
|
|
|
NM_012275.3(IL36RN):c.29+15C>A
|
rs1476532102
|
|
NM_012275.3(IL36RN):c.29+15C>G
|
rs1476532102
|
|
NM_012275.3(IL36RN):c.29+7G>A
|
|
|
NM_012275.3(IL36RN):c.30-13C>T
|
|
|
NM_012275.3(IL36RN):c.30-18C>A
|
|
|
NM_012275.3(IL36RN):c.307C>A (p.Arg103=)
|
|
|
NM_012275.3(IL36RN):c.348C>T (p.Tyr116=)
|
rs1383851199
|
|
NM_012275.3(IL36RN):c.366C>T (p.Cys122=)
|
|
|
NM_012275.3(IL36RN):c.369G>A (p.Thr123=)
|
rs28938778
|
|
NM_012275.3(IL36RN):c.387G>A (p.Gln129=)
|
rs1685666198
|
|
NM_012275.3(IL36RN):c.42G>A (p.Ser14=)
|
|
|
NM_012275.3(IL36RN):c.435C>T (p.Pro145=)
|
|
|
NM_012275.3(IL36RN):c.441A>G (p.Thr147=)
|
|
|
NM_014639.4(SKIC3):c.2077G>A (p.Val693Ile)
|
rs150894862
|
|
NM_015474.4(SAMHD1):c.1014C>T (p.Ala338=)
|
rs1238026198
|
|
NM_015474.4(SAMHD1):c.1020C>T (p.Val340=)
|
|
|
NM_015474.4(SAMHD1):c.1023T>C (p.Cys341=)
|
rs2146116863
|
|
NM_015474.4(SAMHD1):c.1026A>G (p.Glu342=)
|
|
|
NM_015474.4(SAMHD1):c.102G>T (p.Pro34=)
|
|
|
NM_015474.4(SAMHD1):c.1038G>A (p.Glu346=)
|
|
|
NM_015474.4(SAMHD1):c.1050T>C (p.Cys350=)
|
rs1601130032
|
|
NM_015474.4(SAMHD1):c.1053T>G (p.Ala351=)
|
|
|
NM_015474.4(SAMHD1):c.1062+12C>T
|
|
|
NM_015474.4(SAMHD1):c.1062+14G>C
|
|
|
NM_015474.4(SAMHD1):c.1062+17G>A
|
rs375919445
|
|
NM_015474.4(SAMHD1):c.1062+19G>C
|
|
|
NM_015474.4(SAMHD1):c.1062+7T>C
|
rs2146116764
|
|
NM_015474.4(SAMHD1):c.1062+8G>A
|
|
|
NM_015474.4(SAMHD1):c.1063-13T>C
|
|
|
NM_015474.4(SAMHD1):c.1063-15C>A
|
|
|
NM_015474.4(SAMHD1):c.1063-16T>G
|
|
|
NM_015474.4(SAMHD1):c.1063-4G>T
|
rs2148365781
|
|
NM_015474.4(SAMHD1):c.1063-7C>T
|
|
|
NM_015474.4(SAMHD1):c.108G>A (p.Leu36=)
|
|
|
NM_015474.4(SAMHD1):c.111A>G (p.Glu37=)
|
rs779493555
|
|
NM_015474.4(SAMHD1):c.1122T>C (p.Tyr374=)
|
rs1255201901
|
|
NM_015474.4(SAMHD1):c.1143T>C (p.Ile381=)
|
|
|
NM_015474.4(SAMHD1):c.1154+12G>A
|
|
|
NM_015474.4(SAMHD1):c.1154+12G>T
|
|
|
NM_015474.4(SAMHD1):c.1154+13A>G
|
rs2148365673
|
|
NM_015474.4(SAMHD1):c.1154+14T>C
|
|
|
NM_015474.4(SAMHD1):c.1154+15T>G
|
|
|
NM_015474.4(SAMHD1):c.1155-16G>A
|
|
|
NM_015474.4(SAMHD1):c.1155-8A>C
|
|
|
NM_015474.4(SAMHD1):c.1161A>C (p.Thr387=)
|
|
|
NM_015474.4(SAMHD1):c.1161A>G (p.Thr387=)
|
|
|
NM_015474.4(SAMHD1):c.1173C>T (p.Leu391=)
|
|
|
NM_015474.4(SAMHD1):c.1179A>G (p.Ala393=)
|
|
|
NM_015474.4(SAMHD1):c.1185C>T (p.Asp395=)
|
rs2148365039
|
|
NM_015474.4(SAMHD1):c.1194G>A (p.Glu398=)
|
rs2148365027
|
|
NM_015474.4(SAMHD1):c.1200A>G (p.Thr400=)
|
rs773943611
|
|
NM_015474.4(SAMHD1):c.120C>G (p.Pro40=)
|
|
|
NM_015474.4(SAMHD1):c.1227T>A (p.Ile409=)
|
rs2148364956
|
|
NM_015474.4(SAMHD1):c.1230T>C (p.Ser410=)
|
rs2148364950
|
|
NM_015474.4(SAMHD1):c.1254C>T (p.Ala418=)
|
rs2148364919
|
|
NM_015474.4(SAMHD1):c.1263G>A (p.Lys421=)
|
rs1601124713
|
|
NM_015474.4(SAMHD1):c.1270+10A>G
|
|
|
NM_015474.4(SAMHD1):c.1270+20A>G
|
|
|
NM_015474.4(SAMHD1):c.1270+7A>T
|
rs2148364885
|
|
NM_015474.4(SAMHD1):c.1271-13A>G
|
rs2148360651
|
|
NM_015474.4(SAMHD1):c.1271-14C>G
|
|
|
NM_015474.4(SAMHD1):c.1271-14C>T
|
|
|
NM_015474.4(SAMHD1):c.1271-18A>C
|
|
|
NM_015474.4(SAMHD1):c.1275C>T (p.Asn425=)
|
rs2148360636
|
|
NM_015474.4(SAMHD1):c.1293A>G (p.Leu431=)
|
|
|
NM_015474.4(SAMHD1):c.129G>A (p.Lys43=)
|
rs1386913237
|
|
NM_015474.4(SAMHD1):c.12C>A (p.Ala4=)
|
rs1356766255
|
|
NM_015474.4(SAMHD1):c.12C>G (p.Ala4=)
|
rs1356766255
|
|
NM_015474.4(SAMHD1):c.12C>T (p.Ala4=)
|
rs1356766255
|
|
NM_015474.4(SAMHD1):c.1302T>C (p.Thr434=)
|
rs747247611
|
|
NM_015474.4(SAMHD1):c.1312T>C (p.Leu438=)
|
rs2148360614
|
|
NM_015474.4(SAMHD1):c.1324C>A (p.Arg442=)
|
|
|
NM_015474.4(SAMHD1):c.1329G>A (p.Glu443=)
|
|
|
NM_015474.4(SAMHD1):c.132A>G (p.Thr44=)
|
|
|
NM_015474.4(SAMHD1):c.132A>T (p.Thr44=)
|
|
|
NM_015474.4(SAMHD1):c.1335A>G (p.Leu445=)
|
|
|
NM_015474.4(SAMHD1):c.1344T>C (p.Ile448=)
|
rs746144991
|
|
NM_015474.4(SAMHD1):c.1365G>A (p.Lys455=)
|
|
|
NM_015474.4(SAMHD1):c.1380G>T (p.Thr460=)
|
|
|
NM_015474.4(SAMHD1):c.1389A>G (p.Thr463=)
|
|
|
NM_015474.4(SAMHD1):c.1410+12G>A
|
|
|
NM_015474.4(SAMHD1):c.1410+15A>C
|
|
|
NM_015474.4(SAMHD1):c.1410+15A>G
|
|
|
NM_015474.4(SAMHD1):c.1410+17C>G
|
|
|
NM_015474.4(SAMHD1):c.1410+6dup
|
rs2148360509
|
|
NM_015474.4(SAMHD1):c.1410+8dup
|
rs2148360504
|
|
NM_015474.4(SAMHD1):c.1410+9T>C
|
|
|
NM_015474.4(SAMHD1):c.1411-11G>T
|
|
|
NM_015474.4(SAMHD1):c.1411-17A>G
|
|
|
NM_015474.4(SAMHD1):c.1411-19G>A
|
|
|
NM_015474.4(SAMHD1):c.1411-19G>T
|
|
|
NM_015474.4(SAMHD1):c.1411-20G>A
|
|
|
NM_015474.4(SAMHD1):c.1411-5T>C
|
|
|
NM_015474.4(SAMHD1):c.1411-7T>C
|
rs2148359780
|
|
NM_015474.4(SAMHD1):c.1416C>T (p.Asp472=)
|
|
|
NM_015474.4(SAMHD1):c.141G>A (p.Pro47=)
|
|
|
NM_015474.4(SAMHD1):c.141G>C (p.Pro47=)
|
|
|
NM_015474.4(SAMHD1):c.1422A>G (p.Glu474=)
|
|
|
NM_015474.4(SAMHD1):c.1428T>A (p.Leu476=)
|
|
|
NM_015474.4(SAMHD1):c.1431A>C (p.Pro477=)
|
rs781256664
|
|
NM_015474.4(SAMHD1):c.1431A>G (p.Pro477=)
|
rs781256664
|
|
NM_015474.4(SAMHD1):c.1437G>A (p.Glu479=)
|
|
|
NM_015474.4(SAMHD1):c.1443C>T (p.Ala481=)
|
|
|
NM_015474.4(SAMHD1):c.1455C>T (p.Pro485=)
|
rs879334178
|
|
NM_015474.4(SAMHD1):c.1464G>A (p.Leu488=)
|
|
|
NM_015474.4(SAMHD1):c.1465C>T (p.Leu489=)
|
|
|
NM_015474.4(SAMHD1):c.1467A>G (p.Leu489=)
|
rs2148359699
|
|
NM_015474.4(SAMHD1):c.1470C>T (p.Asp490=)
|
rs889518882
|
|
NM_015474.4(SAMHD1):c.147G>A (p.Gln49=)
|
|
|
NM_015474.4(SAMHD1):c.1482G>A (p.Lys494=)
|
|
|
NM_015474.4(SAMHD1):c.1503+11A>G
|
|
|
NM_015474.4(SAMHD1):c.1503+15C>T
|
|
|
NM_015474.4(SAMHD1):c.1503+16A>C
|
|
|
NM_015474.4(SAMHD1):c.1503+9T>A
|
|
|
NM_015474.4(SAMHD1):c.1504-11C>T
|
|
|
NM_015474.4(SAMHD1):c.1504-19G>C
|
|
|
NM_015474.4(SAMHD1):c.1521T>C (p.Tyr507=)
|
|
|
NM_015474.4(SAMHD1):c.1557C>T (p.Ser519=)
|
|
|
NM_015474.4(SAMHD1):c.1563T>C (p.Tyr521=)
|
rs745419546
|
|
NM_015474.4(SAMHD1):c.1581C>T (p.Asn527=)
|
|
|
NM_015474.4(SAMHD1):c.15T>C (p.Asp5=)
|
|
|
NM_015474.4(SAMHD1):c.1608+10T>A
|
rs1467936950
|
|
NM_015474.4(SAMHD1):c.1608+20A>G
|
|
|
NM_015474.4(SAMHD1):c.1608+7A>C
|
rs2148355927
|
|
NM_015474.4(SAMHD1):c.1608+8C>G
|
|
|
NM_015474.4(SAMHD1):c.1608+9T>C
|
rs2148355926
|
|
NM_015474.4(SAMHD1):c.1609-11A>T
|
|
|
NM_015474.4(SAMHD1):c.1609-15C>T
|
|
|
NM_015474.4(SAMHD1):c.1623G>A (p.Leu541=)
|
rs1990227839
|
|
NM_015474.4(SAMHD1):c.1629G>A (p.Glu543=)
|
rs1601112678
|
|
NM_015474.4(SAMHD1):c.1645C>T (p.Leu549=)
|
rs2148355580
|
|
NM_015474.4(SAMHD1):c.1659T>C (p.Tyr553=)
|
|
|
NM_015474.4(SAMHD1):c.1674C>T (p.Asp558=)
|
rs1252711773
|
|
NM_015474.4(SAMHD1):c.168C>T (p.Arg56=)
|
rs370376351
|
|
NM_015474.4(SAMHD1):c.1695A>C (p.Ala565=)
|
rs1012848236
|
|
NM_015474.4(SAMHD1):c.1701A>G (p.Gln567=)
|
|
|
NM_015474.4(SAMHD1):c.1734C>T (p.Phe578=)
|
|
|
NM_015474.4(SAMHD1):c.1740G>A (p.Lys580=)
|
|
|
NM_015474.4(SAMHD1):c.1746+10C>T
|
rs2148355475
|
|
NM_015474.4(SAMHD1):c.1746+17T>C
|
|
|
NM_015474.4(SAMHD1):c.1746+17_1746+20del
|
|
|
NM_015474.4(SAMHD1):c.1746+18C>T
|
rs2148355462
|
|
NM_015474.4(SAMHD1):c.1746+7G>A
|
|
|
NM_015474.4(SAMHD1):c.1746+8G>A
|
|
|
NM_015474.4(SAMHD1):c.1746+9C>A
|
|
|
NM_015474.4(SAMHD1):c.174C>T (p.Gly58=)
|
rs2146160518
|
|
NM_015474.4(SAMHD1):c.1758T>C (p.Val586=)
|
|
|
NM_015474.4(SAMHD1):c.1776A>G (p.Thr592=)
|
|
|
NM_015474.4(SAMHD1):c.1782A>G (p.Gln594=)
|
|
|
NM_015474.4(SAMHD1):c.180A>G (p.Glu60=)
|
|
|
NM_015474.4(SAMHD1):c.1827C>G (p.Arg609=)
|
|
|
NM_015474.4(SAMHD1):c.1833A>G (p.Arg611=)
|
rs1601108388
|
|
NM_015474.4(SAMHD1):c.1839A>C (p.Ala613=)
|
|
|
NM_015474.4(SAMHD1):c.1860T>C (p.Leu620=)
|
rs2148352120
|
|
NM_015474.4(SAMHD1):c.186G>C (p.Pro62=)
|
rs2146160488
|
|
NM_015474.4(SAMHD1):c.1872C>T (p.Asp624=)
|
|
|
NM_015474.4(SAMHD1):c.18C>A (p.Ser6=)
|
|
|
NM_015474.4(SAMHD1):c.193C>T (p.Leu65=)
|
|
|
NM_015474.4(SAMHD1):c.208+12G>A
|
rs200586933
|
|
NM_015474.4(SAMHD1):c.208+12G>C
|
rs200586933
|
|
NM_015474.4(SAMHD1):c.208+13G>A
|
|
|
NM_015474.4(SAMHD1):c.208+16G>T
|
|
|
NM_015474.4(SAMHD1):c.208+18G>A
|
|
|
NM_015474.4(SAMHD1):c.209-10T>C
|
rs2146151537
|
|
NM_015474.4(SAMHD1):c.209-15dup
|
rs1600394552
|
|
NM_015474.4(SAMHD1):c.209-17T>C
|
|
|
NM_015474.4(SAMHD1):c.209-18G>A
|
|
|
NM_015474.4(SAMHD1):c.209-7T>C
|
rs2146151531
|
|
NM_015474.4(SAMHD1):c.209-9C>G
|
|
|
NM_015474.4(SAMHD1):c.21G>A (p.Glu7=)
|
rs1479750345
|
|
NM_015474.4(SAMHD1):c.225C>A (p.Gly75=)
|
|
|
NM_015474.4(SAMHD1):c.225C>T (p.Gly75=)
|
rs527385232
|
|
NM_015474.4(SAMHD1):c.228A>G (p.Ala76=)
|
rs2063689294
|
|
NM_015474.4(SAMHD1):c.229T>C (p.Leu77=)
|
rs2146151462
|
|
NM_015474.4(SAMHD1):c.243T>G (p.Leu81=)
|
rs1316259613
|
|
NM_015474.4(SAMHD1):c.267T>G (p.Leu89=)
|
rs2146151397
|
|
NM_015474.4(SAMHD1):c.273A>G (p.Val91=)
|
|
|
NM_015474.4(SAMHD1):c.275+7A>G
|
|
|
NM_015474.4(SAMHD1):c.275+9G>A
|
rs763934219
|
|
NM_015474.4(SAMHD1):c.275+9G>C
|
rs763934219
|
|
NM_015474.4(SAMHD1):c.276-11T>G
|
|
|
NM_015474.4(SAMHD1):c.276-12T>C
|
|
|
NM_015474.4(SAMHD1):c.276-13A>G
|
|
|
NM_015474.4(SAMHD1):c.276-15C>G
|
|
|
NM_015474.4(SAMHD1):c.276-16C>T
|
|
|
NM_015474.4(SAMHD1):c.276-20T>C
|
rs2063641728
|
|
NM_015474.4(SAMHD1):c.276-8A>G
|
|
|
NM_015474.4(SAMHD1):c.276-9T>C
|
|
|
NM_015474.4(SAMHD1):c.279C>T (p.Ser93=)
|
|
|
NM_015474.4(SAMHD1):c.282G>A (p.Leu94=)
|
|
|
NM_015474.4(SAMHD1):c.285G>A (p.Gly95=)
|
rs2146144602
|
|
NM_015474.4(SAMHD1):c.291G>A (p.Arg97=)
|
rs1308693389
|
|
NM_015474.4(SAMHD1):c.294G>A (p.Lys98=)
|
rs535408526
|
|
NM_015474.4(SAMHD1):c.297G>A (p.Lys99=)
|
|
|
NM_015474.4(SAMHD1):c.316C>A (p.Arg106=)
|
rs779028596
|
|
NM_015474.4(SAMHD1):c.330C>T (p.Ile110=)
|
|
|
NM_015474.4(SAMHD1):c.336T>C (p.Val112=)
|
|
|
NM_015474.4(SAMHD1):c.339T>C (p.Asp113=)
|
rs2146144529
|
|
NM_015474.4(SAMHD1):c.33G>A (p.Lys11=)
|
|
|
NM_015474.4(SAMHD1):c.348+13G>A
|
|
|
NM_015474.4(SAMHD1):c.348+14A>C
|
rs1600389905
|
|
NM_015474.4(SAMHD1):c.348+17T>G
|
rs2146144489
|
|
NM_015474.4(SAMHD1):c.348+19G>A
|
rs2063640331
|
|
NM_015474.4(SAMHD1):c.348+19_348+21del
|
rs1178558707
|
|
NM_015474.4(SAMHD1):c.348+7G>A
|
rs568011642
|
|
NM_015474.4(SAMHD1):c.348+7G>C
|
rs568011642
|
|
NM_015474.4(SAMHD1):c.349-11T>C
|
|
|
NM_015474.4(SAMHD1):c.349-11_349-10del
|
|
|
NM_015474.4(SAMHD1):c.349-14A>T
|
|
|
NM_015474.4(SAMHD1):c.349-16A>T
|
|
|
NM_015474.4(SAMHD1):c.349-18_349-15del
|
|
|
NM_015474.4(SAMHD1):c.349-5T>C
|
rs2063595719
|
|
NM_015474.4(SAMHD1):c.351A>G (p.Val117=)
|
|
|
NM_015474.4(SAMHD1):c.369T>C (p.His123=)
|
|
|
NM_015474.4(SAMHD1):c.381G>A (p.Glu127=)
|
|
|
NM_015474.4(SAMHD1):c.384C>G (p.Leu128=)
|
|
|
NM_015474.4(SAMHD1):c.393C>T (p.Leu131=)
|
rs2146137613
|
|
NM_015474.4(SAMHD1):c.396C>G (p.Leu132=)
|
|
|
NM_015474.4(SAMHD1):c.402A>C (p.Arg134=)
|
|
|
NM_015474.4(SAMHD1):c.411T>C (p.Asp137=)
|
rs2146137550
|
|
NM_015474.4(SAMHD1):c.414A>G (p.Thr138=)
|
|
|
NM_015474.4(SAMHD1):c.438C>T (p.Tyr146=)
|
rs2146137471
|
|
NM_015474.4(SAMHD1):c.441C>A (p.Ile147=)
|
rs201880612
|
|
NM_015474.4(SAMHD1):c.447G>A (p.Gln149=)
|
|
|
NM_015474.4(SAMHD1):c.459T>C (p.Gly153=)
|
rs2146137431
|
|
NM_015474.4(SAMHD1):c.465T>C (p.Tyr155=)
|
|
|
NM_015474.4(SAMHD1):c.477A>G (p.Gly159=)
|
rs2146137401
|
|
NM_015474.4(SAMHD1):c.480T>G (p.Ala160=)
|
|
|
NM_015474.4(SAMHD1):c.48T>C (p.Asp16=)
|
rs1330443890
|
|
NM_015474.4(SAMHD1):c.490C>A (p.Arg164=)
|
rs267607027
|
|
NM_015474.4(SAMHD1):c.498G>A (p.Glu166=)
|
|
|
NM_015474.4(SAMHD1):c.501T>C (p.His167=)
|
|
|
NM_015474.4(SAMHD1):c.507A>G (p.Leu169=)
|
rs2146137349
|
|
NM_015474.4(SAMHD1):c.509+10G>A
|
rs2146137336
|
|
NM_015474.4(SAMHD1):c.509+11A>G
|
|
|
NM_015474.4(SAMHD1):c.509+14G>A
|
|
|
NM_015474.4(SAMHD1):c.509+17G>C
|
|
|
NM_015474.4(SAMHD1):c.509+8G>A
|
rs2146137337
|
|
NM_015474.4(SAMHD1):c.509+9G>A
|
|
|
NM_015474.4(SAMHD1):c.510-10T>G
|
|
|
NM_015474.4(SAMHD1):c.510-13T>G
|
rs764856158
|
|
NM_015474.4(SAMHD1):c.510-14T>C
|
|
|
NM_015474.4(SAMHD1):c.510-17G>T
|
rs1555835836
|
|
NM_015474.4(SAMHD1):c.510-19_510-18del
|
|
|
NM_015474.4(SAMHD1):c.510-20T>G
|
rs2146132172
|
|
NM_015474.4(SAMHD1):c.513G>A (p.Val171=)
|
|
|
NM_015474.4(SAMHD1):c.513G>C (p.Val171=)
|
rs903077482
|
|
NM_015474.4(SAMHD1):c.516G>A (p.Gly172=)
|
rs539358895
|
|
NM_015474.4(SAMHD1):c.516G>T (p.Gly172=)
|
rs539358895
|
|
NM_015474.4(SAMHD1):c.525A>C (p.Ala175=)
|
rs1438006542
|
|
NM_015474.4(SAMHD1):c.532C>T (p.Leu178=)
|
|
|
NM_015474.4(SAMHD1):c.534A>G (p.Leu178=)
|
rs771148482
|
|
NM_015474.4(SAMHD1):c.540C>T (p.His180=)
|
rs2146132084
|
|
NM_015474.4(SAMHD1):c.543A>T (p.Ala181=)
|
rs769968442
|
|
NM_015474.4(SAMHD1):c.555A>G (p.Lys185=)
|
|
|
NM_015474.4(SAMHD1):c.57G>C (p.Pro19=)
|
|
|
NM_015474.4(SAMHD1):c.588T>A (p.Val196=)
|
rs2146131970
|
|
NM_015474.4(SAMHD1):c.588T>C (p.Val196=)
|
|
|
NM_015474.4(SAMHD1):c.58A>C (p.Arg20=)
|
|
|
NM_015474.4(SAMHD1):c.625+10A>T
|
|
|
NM_015474.4(SAMHD1):c.625+11C>T
|
|
|
NM_015474.4(SAMHD1):c.625+12A>G
|
|
|
NM_015474.4(SAMHD1):c.625+17G>A
|
|
|
NM_015474.4(SAMHD1):c.625+17G>C
|
|
|
NM_015474.4(SAMHD1):c.625+19C>T
|
|
|
NM_015474.4(SAMHD1):c.625+8G>A
|
rs537246518
|
|
NM_015474.4(SAMHD1):c.626-15G>A
|
|
|
NM_015474.4(SAMHD1):c.626-8T>C
|
rs2146127859
|
|
NM_015474.4(SAMHD1):c.63C>A (p.Thr21=)
|
|
|
NM_015474.4(SAMHD1):c.63C>G (p.Thr21=)
|
|
|
NM_015474.4(SAMHD1):c.645C>T (p.His215=)
|
rs2146127828
|
|
NM_015474.4(SAMHD1):c.657A>G (p.Gly219=)
|
rs2146127775
|
|
NM_015474.4(SAMHD1):c.669A>G (p.Pro223=)
|
|
|
NM_015474.4(SAMHD1):c.66C>G (p.Pro22=)
|
rs2146160870
|
|
NM_015474.4(SAMHD1):c.672T>C (p.Leu224=)
|
rs2146127757
|
|
NM_015474.4(SAMHD1):c.678C>T (p.Arg226=)
|
rs2146127744
|
|
NM_015474.4(SAMHD1):c.681G>T (p.Pro227=)
|
rs144587056
|
|
NM_015474.4(SAMHD1):c.687G>T (p.Val229=)
|
|
|
NM_015474.4(SAMHD1):c.690A>G (p.Lys230=)
|
rs2063541744
|
|
NM_015474.4(SAMHD1):c.696+10C>A
|
|
|
NM_015474.4(SAMHD1):c.696+17T>C
|
|
|
NM_015474.4(SAMHD1):c.696+20A>G
|
|
|
NM_015474.4(SAMHD1):c.696+7A>G
|
|
|
NM_015474.4(SAMHD1):c.697-20A>G
|
|
|
NM_015474.4(SAMHD1):c.697-5C>T
|
rs780562967
|
|
NM_015474.4(SAMHD1):c.699T>C (p.His233=)
|
rs758776995
|
|
NM_015474.4(SAMHD1):c.741T>C (p.Ser247=)
|
|
|
NM_015474.4(SAMHD1):c.744T>C (p.Asn248=)
|
rs2146119590
|
|
NM_015474.4(SAMHD1):c.747A>C (p.Gly249=)
|
rs2146119586
|
|
NM_015474.4(SAMHD1):c.753G>A (p.Lys251=)
|
rs1331067278
|
|
NM_015474.4(SAMHD1):c.756T>C (p.Pro252=)
|
rs1601132420
|
|
NM_015474.4(SAMHD1):c.75C>G (p.Thr25=)
|
|
|
NM_015474.4(SAMHD1):c.75C>T (p.Thr25=)
|
|
|
NM_015474.4(SAMHD1):c.771T>C (p.Tyr257=)
|
|
|
NM_015474.4(SAMHD1):c.774T>C (p.Gly258=)
|
|
|
NM_015474.4(SAMHD1):c.780C>A (p.Ile260=)
|
|
|
NM_015474.4(SAMHD1):c.78T>C (p.Pro26=)
|
|
|
NM_015474.4(SAMHD1):c.810A>G (p.Glu270=)
|
rs2146119450
|
|
NM_015474.4(SAMHD1):c.819A>G (p.Val273=)
|
|
|
NM_015474.4(SAMHD1):c.81C>A (p.Ser27=)
|
|
|
NM_015474.4(SAMHD1):c.81C>G (p.Ser27=)
|
|
|
NM_015474.4(SAMHD1):c.822A>G (p.Gly274=)
|
|
|
NM_015474.4(SAMHD1):c.828T>C (p.Leu276=)
|
rs2146119427
|
|
NM_015474.4(SAMHD1):c.846T>C (p.Asp282=)
|
|
|
NM_015474.4(SAMHD1):c.849A>C (p.Ser283=)
|
rs1297061868
|
|
NM_015474.4(SAMHD1):c.84A>G (p.Ala28=)
|
|
|
NM_015474.4(SAMHD1):c.84A>T (p.Ala28=)
|
|
|
NM_015474.4(SAMHD1):c.852+11G>A
|
|
|
NM_015474.4(SAMHD1):c.852+14C>T
|
|
|
NM_015474.4(SAMHD1):c.852+15A>C
|
|
|
NM_015474.4(SAMHD1):c.852+16G>A
|
|
|
NM_015474.4(SAMHD1):c.852+17C>T
|
|
|
NM_015474.4(SAMHD1):c.861T>C (p.Tyr287=)
|
rs752962934
|
|
NM_015474.4(SAMHD1):c.867G>T (p.Gly289=)
|
rs1601130409
|
|
NM_015474.4(SAMHD1):c.879C>T (p.Asn293=)
|
|
|
NM_015474.4(SAMHD1):c.903A>G (p.Val301=)
|
|
|
NM_015474.4(SAMHD1):c.924T>C (p.Ile308=)
|
rs1422794120
|
|
NM_015474.4(SAMHD1):c.953+12A>G
|
|
|
NM_015474.4(SAMHD1):c.953+19T>G
|
|
|
NM_015474.4(SAMHD1):c.953+7A>C
|
rs1472597876
|
|
NM_015474.4(SAMHD1):c.953+7A>G
|
rs1472597876
|
|
NM_015474.4(SAMHD1):c.954-17T>G
|
|
|
NM_015474.4(SAMHD1):c.954-24CT[2]
|
rs780918592
|
|
NM_015474.4(SAMHD1):c.999C>A (p.Arg333=)
|
rs2146116905
|
|
NM_015474.4(SAMHD1):c.99C>A (p.Ser33=)
|
rs1014839218
|
|
NM_015474.4(SAMHD1):c.99C>T (p.Ser33=)
|
rs1014839218
|
|
NM_015922.3(NSDHL):c.268-15dup
|
rs782031217
|
|
NM_015922.3(NSDHL):c.928C>A (p.Leu310Met)
|
rs782808515
|
|
NM_017617.5(NOTCH1):c.4049G>T (p.Arg1350Leu)
|
rs150343794
|
|
NM_017617.5(NOTCH1):c.5472+19G>C
|
rs755674060
|
|
NM_017617.5(NOTCH1):c.5724C>G (p.Ala1908=)
|
rs555773558
|
|
NM_017617.5(NOTCH1):c.7232CAC[4] (p.Pro2415del)
|
rs762336270
|
|
NM_017617.5(NOTCH1):c.7232CAC[6] (p.Pro2415dup)
|
rs762336270
|
|
NM_017668.3(NDE1):c.*755G>A
|
rs763714252
|
|
NM_017668.3(NDE1):c.947+11989AG[2]
|
rs747642850
|
|
NM_020800.3(IFT80):c.282G>A (p.Lys94=)
|
rs548358266
|
|
NM_022124.6(CDH23):c.5130C>T (p.Ile1710=)
|
rs111033487
|
|
NM_022124.6(CDH23):c.7113C>T (p.Thr2371=)
|
rs747544364
|
|
NM_022124.6(CDH23):c.8120_8121delinsTT (p.Pro2707Leu)
|
rs876657422
|
|
NM_022124.6(CDH23):c.8121G>T (p.Pro2707=)
|
rs377535432
|
|
NM_022124.6(CDH23):c.8229C>T (p.Arg2743=)
|
rs372996083
|
|
NM_022124.6(CDH23):c.9885C>T (p.Thr3295=)
|
rs1382062973
|
|
NM_022162.3(NOD2):c.3019dup (p.Leu1007fs)
|
rs2066847
|
|
NM_022168.4(IFIH1):c.1001del (p.Gly334fs)
|
|
|
NM_022168.4(IFIH1):c.1032G>A (p.Lys344=)
|
rs1057522887
|
|
NM_022168.4(IFIH1):c.1056A>G (p.Lys352=)
|
|
|
NM_022168.4(IFIH1):c.1065G>A (p.Glu355=)
|
|
|
NM_022168.4(IFIH1):c.1095+15C>T
|
|
|
NM_022168.4(IFIH1):c.1096-10T>C
|
|
|
NM_022168.4(IFIH1):c.1096-13A>C
|
rs368712508
|
|
NM_022168.4(IFIH1):c.1096-14C>A
|
|
|
NM_022168.4(IFIH1):c.1096-17C>G
|
|
|
NM_022168.4(IFIH1):c.1096-19A>T
|
|
|
NM_022168.4(IFIH1):c.1096-20A>G
|
rs1479997723
|
|
NM_022168.4(IFIH1):c.1096-8T>G
|
|
|
NM_022168.4(IFIH1):c.1099C>T (p.Leu367=)
|
rs898579910
|
|
NM_022168.4(IFIH1):c.1116C>G (p.Leu372=)
|
|
|
NM_022168.4(IFIH1):c.1131C>T (p.Phe377=)
|
rs1432684351
|
|
NM_022168.4(IFIH1):c.1134A>G (p.Gln378=)
|
rs750443621
|
|
NM_022168.4(IFIH1):c.1149A>G (p.Lys383=)
|
|
|
NM_022168.4(IFIH1):c.1151G>A (p.Trp384Ter)
|
rs752544919
|
|
NM_022168.4(IFIH1):c.1173T>C (p.Ser391=)
|
|
|
NM_022168.4(IFIH1):c.11G>C (p.Gly4Ala)
|
|
|
NM_022168.4(IFIH1):c.1203A>G (p.Pro401=)
|
rs976325423
|
|
NM_022168.4(IFIH1):c.1204G>T (p.Glu402Ter)
|
|
|
NM_022168.4(IFIH1):c.1236T>C (p.Ser412=)
|
|
|
NM_022168.4(IFIH1):c.1239A>G (p.Thr413=)
|
|
|
NM_022168.4(IFIH1):c.1270T>C (p.Leu424=)
|
|
|
NM_022168.4(IFIH1):c.1293T>C (p.Gly431=)
|
|
|
NM_022168.4(IFIH1):c.1299A>G (p.Gln433=)
|
|
|
NM_022168.4(IFIH1):c.1302G>A (p.Leu434=)
|
rs1576227064
|
|
NM_022168.4(IFIH1):c.1306+11G>A
|
|
|
NM_022168.4(IFIH1):c.1306+16T>C
|
rs2105202978
|
|
NM_022168.4(IFIH1):c.1306+17del
|
|
|
NM_022168.4(IFIH1):c.1306+18T>C
|
|
|
NM_022168.4(IFIH1):c.1307-16del
|
rs1032927565
|
|
NM_022168.4(IFIH1):c.1307-17_1307-16del
|
rs1032927565
|
|
NM_022168.4(IFIH1):c.1307-19C>A
|
rs1553459305
|
|
NM_022168.4(IFIH1):c.1323C>T (p.Ile441=)
|
|
|
NM_022168.4(IFIH1):c.1338T>C (p.His446=)
|
|
|
NM_022168.4(IFIH1):c.1358del (p.Val453fs)
|
|
|
NM_022168.4(IFIH1):c.1368C>T (p.Asn456=)
|
rs1682808224
|
|
NM_022168.4(IFIH1):c.1395G>A (p.Lys465=)
|
|
|
NM_022168.4(IFIH1):c.1437dup (p.Pro480fs)
|
|
|
NM_022168.4(IFIH1):c.1446T>C (p.Pro482=)
|
rs1411002338
|
|
NM_022168.4(IFIH1):c.1446T>G (p.Pro482=)
|
rs1411002338
|
|
NM_022168.4(IFIH1):c.1447_1448delinsGG (p.Gln483Gly)
|
rs2105201846
|
|
NM_022168.4(IFIH1):c.1447_1450delinsGGGAATCCCCT (p.Gln483fs)
|
|
|
NM_022168.4(IFIH1):c.144_148del (p.Arg48fs)
|
|
|
NM_022168.4(IFIH1):c.1461A>G (p.Leu487=)
|
rs1176422661
|
|
NM_022168.4(IFIH1):c.1464A>G (p.Thr488=)
|
|
|
NM_022168.4(IFIH1):c.147A>T (p.Thr49=)
|
|
|
NM_022168.4(IFIH1):c.1491G>A (p.Thr497=)
|
rs12479043
|
|
NM_022168.4(IFIH1):c.1515C>T (p.His505=)
|
|
|
NM_022168.4(IFIH1):c.1518T>C (p.Ile506=)
|
rs1682803560
|
|
NM_022168.4(IFIH1):c.151G>T (p.Ala51Ser)
|
|
|
NM_022168.4(IFIH1):c.1524+10A>G
|
|
|
NM_022168.4(IFIH1):c.1524+20A>G
|
|
|
NM_022168.4(IFIH1):c.1525-11C>A
|
|
|
NM_022168.4(IFIH1):c.1525-11C>T
|
|
|
NM_022168.4(IFIH1):c.1525-9C>G
|
|
|
NM_022168.4(IFIH1):c.1545A>G (p.Ala515=)
|
|
|
NM_022168.4(IFIH1):c.1551T>C (p.Thr517=)
|
rs1682779091
|
|
NM_022168.4(IFIH1):c.1557_1558del (p.Lys519fs)
|
|
|
NM_022168.4(IFIH1):c.1569A>G (p.Glu523=)
|
rs780503744
|
|
NM_022168.4(IFIH1):c.1573C>T (p.Leu525Phe)
|
|
|
NM_022168.4(IFIH1):c.1584G>T (p.Leu528=)
|
rs2105200440
|
|
NM_022168.4(IFIH1):c.1590C>G (p.Asn530Lys)
|
rs369245661
|
|
NM_022168.4(IFIH1):c.1590C>T (p.Asn530=)
|
|
|
NM_022168.4(IFIH1):c.1599G>A (p.Gln533=)
|
|
|
NM_022168.4(IFIH1):c.1631del (p.Ala544fs)
|
|
|
NM_022168.4(IFIH1):c.1641+10T>A
|
|
|
NM_022168.4(IFIH1):c.1641+19A>T
|
|
|
NM_022168.4(IFIH1):c.1641+6G>A
|
rs1558866937
|
|
NM_022168.4(IFIH1):c.1641+7G>A
|
|
|
NM_022168.4(IFIH1):c.1641+7G>T
|
|
|
NM_022168.4(IFIH1):c.1642-12C>A
|
|
|
NM_022168.4(IFIH1):c.1642-14T>C
|
|
|
NM_022168.4(IFIH1):c.1642-16T>C
|
|
|
NM_022168.4(IFIH1):c.1642-24_1642-19del
|
rs764480780
|
|
NM_022168.4(IFIH1):c.1644T>C (p.Asp548=)
|
rs146039980
|
|
NM_022168.4(IFIH1):c.1646del (p.Pro549fs)
|
|
|
NM_022168.4(IFIH1):c.1709T>C (p.Met570Thr)
|
|
|
NM_022168.4(IFIH1):c.1728A>G (p.Gln576=)
|
|
|
NM_022168.4(IFIH1):c.1731C>T (p.Pro577=)
|
|
|
NM_022168.4(IFIH1):c.1743G>A (p.Trp581Ter)
|
|
|
NM_022168.4(IFIH1):c.1765+12T>G
|
|
|
NM_022168.4(IFIH1):c.1765+14G>C
|
|
|
NM_022168.4(IFIH1):c.1765+17C>T
|
|
|
NM_022168.4(IFIH1):c.1765+7T>G
|
|
|
NM_022168.4(IFIH1):c.1765+9G>C
|
|
|
NM_022168.4(IFIH1):c.1765G>T (p.Ala589Ser)
|
rs150760072
|
|
NM_022168.4(IFIH1):c.1766-11dup
|
rs548261817
|
|
NM_022168.4(IFIH1):c.1766-13T>C
|
|
|
NM_022168.4(IFIH1):c.1766-16A>G
|
|
|
NM_022168.4(IFIH1):c.1766-20C>T
|
rs1682725810
|
|
NM_022168.4(IFIH1):c.1766-4_1766-3insATAAT
|
|
|
NM_022168.4(IFIH1):c.1766-6T>A
|
|
|
NM_022168.4(IFIH1):c.1766-9T>C
|
rs2105197921
|
|
NM_022168.4(IFIH1):c.1766-9_1766-8insCAC
|
|
|
NM_022168.4(IFIH1):c.1766C>A (p.Ala589Asp)
|
rs145792185
|
|
NM_022168.4(IFIH1):c.1773A>G (p.Lys591=)
|
rs747086201
|
|
NM_022168.4(IFIH1):c.177T>G (p.Val59=)
|
rs115500208
|
|
NM_022168.4(IFIH1):c.1785C>T (p.Arg595=)
|
|
|
NM_022168.4(IFIH1):c.1795del (p.Val599fs)
|
|
|
NM_022168.4(IFIH1):c.1810T>C (p.Leu604=)
|
|
|
NM_022168.4(IFIH1):c.1869T>C (p.Tyr623=)
|
|
|
NM_022168.4(IFIH1):c.186G>T (p.Leu62=)
|
rs755818922
|
|
NM_022168.4(IFIH1):c.1874A>T (p.His625Leu)
|
rs1682720062
|
|
NM_022168.4(IFIH1):c.1885T>G (p.Phe629Val)
|
rs145818112
|
|
NM_022168.4(IFIH1):c.1887C>T (p.Phe629=)
|
rs1411337823
|
|
NM_022168.4(IFIH1):c.1917A>T (p.Ala639=)
|
|
|
NM_022168.4(IFIH1):c.192C>A (p.Ser64Arg)
|
rs752429833
|
|
NM_022168.4(IFIH1):c.1930G>A (p.Asp644Asn)
|
rs1553459020
|
|
NM_022168.4(IFIH1):c.1952A>G (p.Asp651Gly)
|
|
|
NM_022168.4(IFIH1):c.195C>G (p.Thr65=)
|
|
|
NM_022168.4(IFIH1):c.1968T>C (p.Gly656=)
|
rs2105197520
|
|
NM_022168.4(IFIH1):c.1976A>T (p.Asp659Val)
|
rs2105197504
|
|
NM_022168.4(IFIH1):c.1980G>A (p.Glu660=)
|
rs777359322
|
|
NM_022168.4(IFIH1):c.1983T>G (p.Asp661Glu)
|
rs2105197477
|
|
NM_022168.4(IFIH1):c.1986T>C (p.Asp662=)
|
|
|
NM_022168.4(IFIH1):c.1996C>A (p.Pro666Thr)
|
rs376074455
|
|
NM_022168.4(IFIH1):c.1996C>T (p.Pro666Ser)
|
rs376074455
|
|
NM_022168.4(IFIH1):c.19A>T (p.Thr7Ser)
|
rs2105238769
|
|
NM_022168.4(IFIH1):c.2002A>T (p.Lys668Ter)
|
|
|
NM_022168.4(IFIH1):c.2020_2023del (p.Arg674fs)
|
rs569337014
|
|
NM_022168.4(IFIH1):c.2025T>C (p.Phe675=)
|
|
|
NM_022168.4(IFIH1):c.2036dup (p.Leu679fs)
|
|
|
NM_022168.4(IFIH1):c.2044+10A>T
|
|
|
NM_022168.4(IFIH1):c.2044+15A>G
|
|
|
NM_022168.4(IFIH1):c.2044+18A>G
|
rs960261296
|
|
NM_022168.4(IFIH1):c.2044+20A>C
|
|
|
NM_022168.4(IFIH1):c.2044+7T>G
|
|
|
NM_022168.4(IFIH1):c.2045-15A>T
|
|
|
NM_022168.4(IFIH1):c.2045-7C>A
|
|
|
NM_022168.4(IFIH1):c.2055A>G (p.Lys685=)
|
|
|
NM_022168.4(IFIH1):c.2065del (p.Arg689fs)
|
|
|
NM_022168.4(IFIH1):c.2067G>A (p.Arg689=)
|
rs376420466
|
|
NM_022168.4(IFIH1):c.2067G>C (p.Arg689Ser)
|
rs376420466
|
|
NM_022168.4(IFIH1):c.2067G>T (p.Arg689Ser)
|
rs376420466
|
|
NM_022168.4(IFIH1):c.206G>C (p.Gly69Ala)
|
rs1403164634
|
|
NM_022168.4(IFIH1):c.2070G>C (p.Leu690=)
|
|
|
NM_022168.4(IFIH1):c.2130G>A (p.Glu710=)
|
|
|
NM_022168.4(IFIH1):c.2142G>A (p.Arg714=)
|
rs2105196694
|
|
NM_022168.4(IFIH1):c.2145T>A (p.Thr715=)
|
|
|
NM_022168.4(IFIH1):c.2151A>G (p.Glu717=)
|
rs1246037000
|
|
NM_022168.4(IFIH1):c.2181A>G (p.Thr727=)
|
|
|
NM_022168.4(IFIH1):c.2223T>C (p.Asn741=)
|
rs373758432
|
|
NM_022168.4(IFIH1):c.2224G>A (p.Glu742Lys)
|
rs1682675774
|
|
NM_022168.4(IFIH1):c.2235T>C (p.Ala745=)
|
|
|
NM_022168.4(IFIH1):c.2268A>G (p.Gly756=)
|
rs2105196515
|
|
NM_022168.4(IFIH1):c.2274A>C (p.Gly758=)
|
rs1682675165
|
|
NM_022168.4(IFIH1):c.2277C>T (p.His759=)
|
|
|
NM_022168.4(IFIH1):c.227_233del (p.Thr76fs)
|
|
|
NM_022168.4(IFIH1):c.229C>A (p.Arg77=)
|
rs147278787
|
|
NM_022168.4(IFIH1):c.229C>T (p.Arg77Trp)
|
rs147278787
|
|
NM_022168.4(IFIH1):c.2304+11C>A
|
|
|
NM_022168.4(IFIH1):c.2304+12C>A
|
rs1187996414
|
|
NM_022168.4(IFIH1):c.2304+20C>A
|
|
|
NM_022168.4(IFIH1):c.2305-18A>T
|
rs2105193857
|
|
NM_022168.4(IFIH1):c.2305-5T>C
|
|
|
NM_022168.4(IFIH1):c.230G>T (p.Arg77Leu)
|
rs367851471
|
|
NM_022168.4(IFIH1):c.2334T>C (p.Phe778=)
|
rs774912983
|
|
NM_022168.4(IFIH1):c.2407A>G (p.Ile803Val)
|
|
|
NM_022168.4(IFIH1):c.240G>A (p.Val80=)
|
|
|
NM_022168.4(IFIH1):c.240G>C (p.Val80=)
|
|
|
NM_022168.4(IFIH1):c.2412T>C (p.Val804=)
|
|
|
NM_022168.4(IFIH1):c.2421T>C (p.Tyr807=)
|
rs184259770
|
|
NM_022168.4(IFIH1):c.2427C>G (p.Leu809=)
|
rs74162086
|
|
NM_022168.4(IFIH1):c.2427C>T (p.Leu809=)
|
rs74162086
|
|
NM_022168.4(IFIH1):c.243G>A (p.Glu81=)
|
rs1466990969
|
|
NM_022168.4(IFIH1):c.2445C>T (p.Ala815=)
|
|
|
NM_022168.4(IFIH1):c.2454+14C>T
|
|
|
NM_022168.4(IFIH1):c.2454+17C>G
|
rs190588381
|
|
NM_022168.4(IFIH1):c.2454+20C>T
|
|
|
NM_022168.4(IFIH1):c.2454+7T>A
|
rs2105193557
|
|
NM_022168.4(IFIH1):c.2455-19G>A
|
rs2105192062
|
|
NM_022168.4(IFIH1):c.2455-6T>C
|
|
|
NM_022168.4(IFIH1):c.2464C>A (p.Arg822=)
|
rs747926684
|
|
NM_022168.4(IFIH1):c.2478T>C (p.Asp826=)
|
rs2105191994
|
|
NM_022168.4(IFIH1):c.2505C>T (p.His835=)
|
|
|
NM_022168.4(IFIH1):c.250C>A (p.Arg84=)
|
rs2105238264
|
|
NM_022168.4(IFIH1):c.2535A>C (p.Thr845=)
|
|
|
NM_022168.4(IFIH1):c.2548C>A (p.Arg850=)
|
rs750804689
|
|
NM_022168.4(IFIH1):c.258C>A (p.Thr86=)
|
|
|
NM_022168.4(IFIH1):c.2600A>G (p.Glu867Gly)
|
|
|
NM_022168.4(IFIH1):c.2616+14C>T
|
|
|
NM_022168.4(IFIH1):c.2616+7T>C
|
|
|
NM_022168.4(IFIH1):c.2617-16T>G
|
rs1690964864
|
|
NM_022168.4(IFIH1):c.2617-4C>T
|
rs763876323
|
|
NM_022168.4(IFIH1):c.2619T>A (p.Ile873=)
|
|
|
NM_022168.4(IFIH1):c.2632_2639del (p.Met878fs)
|
|
|
NM_022168.4(IFIH1):c.2638A>C (p.Ser880Arg)
|
rs1391101090
|
|
NM_022168.4(IFIH1):c.2667G>A (p.Lys889=)
|
|
|
NM_022168.4(IFIH1):c.2679C>T (p.Ala893=)
|
|
|
NM_022168.4(IFIH1):c.2686del (p.Tyr896fs)
|
|
|
NM_022168.4(IFIH1):c.2691G>A (p.Lys897=)
|
|
|
NM_022168.4(IFIH1):c.2697C>T (p.Asn899=)
|
rs763492910
|
|
NM_022168.4(IFIH1):c.2704C>T (p.Leu902=)
|
|
|
NM_022168.4(IFIH1):c.2730C>A (p.Cys910Ter)
|
|
|
NM_022168.4(IFIH1):c.2730C>T (p.Cys910=)
|
|
|
NM_022168.4(IFIH1):c.277C>T (p.Arg93Cys)
|
rs947699715
|
|
NM_022168.4(IFIH1):c.2796C>T (p.Thr932=)
|
rs1014172228
|
|
NM_022168.4(IFIH1):c.2807+12A>C
|
|
|
NM_022168.4(IFIH1):c.2807+14G>A
|
rs1423682802
|
|
NM_022168.4(IFIH1):c.2808-12T>C
|
|
|
NM_022168.4(IFIH1):c.2808-18T>C
|
rs2105187140
|
|
NM_022168.4(IFIH1):c.2808-4A>T
|
|
|
NM_022168.4(IFIH1):c.2819T>A (p.Ile940Asn)
|
rs1244249692
|
|
NM_022168.4(IFIH1):c.282C>T (p.Tyr94=)
|
|
|
NM_022168.4(IFIH1):c.2850G>A (p.Lys950=)
|
|
|
NM_022168.4(IFIH1):c.2856C>G (p.Ala952=)
|
|
|
NM_022168.4(IFIH1):c.2856C>T (p.Ala952=)
|
|
|
NM_022168.4(IFIH1):c.2862T>C (p.Tyr954=)
|
|
|
NM_022168.4(IFIH1):c.2880C>T (p.Ile960=)
|
|
|
NM_022168.4(IFIH1):c.2898+15G>A
|
|
|
NM_022168.4(IFIH1):c.2898+19G>C
|
|
|
NM_022168.4(IFIH1):c.2898+20C>G
|
|
|
NM_022168.4(IFIH1):c.2898+3G>A
|
|
|
NM_022168.4(IFIH1):c.2899-16C>G
|
rs1376985243
|
|
NM_022168.4(IFIH1):c.2899-18C>G
|
|
|
NM_022168.4(IFIH1):c.2899-5T>C
|
rs1690944892
|
|
NM_022168.4(IFIH1):c.2899-8T>C
|
|
|
NM_022168.4(IFIH1):c.2964A>G (p.Val988=)
|
rs2105186655
|
|
NM_022168.4(IFIH1):c.2968G>T (p.Val990Phe)
|
rs766879801
|
|
NM_022168.4(IFIH1):c.2979T>C (p.Asn993=)
|
|
|
NM_022168.4(IFIH1):c.2988A>G (p.Thr996=)
|
rs773579812
|
|
NM_022168.4(IFIH1):c.2998T>C (p.Tyr1000His)
|
rs1163178795
|
|
NM_022168.4(IFIH1):c.3000C>T (p.Tyr1000=)
|
|
|
NM_022168.4(IFIH1):c.3018A>G (p.Leu1006=)
|
|
|
NM_022168.4(IFIH1):c.3042C>T (p.Asp1014=)
|
|
|
NM_022168.4(IFIH1):c.3060A>G (p.Leu1020=)
|
|
|
NM_022168.4(IFIH1):c.3069T>C (p.Asp1023=)
|
|
|
NM_022168.4(IFIH1):c.312_313del (p.Pro105fs)
|
rs756183031
|
|
NM_022168.4(IFIH1):c.315A>G (p.Pro105=)
|
|
|
NM_022168.4(IFIH1):c.318G>A (p.Ser106=)
|
|
|
NM_022168.4(IFIH1):c.329C>G (p.Ala110Gly)
|
rs1576243266
|
|
NM_022168.4(IFIH1):c.349C>T (p.Leu117=)
|
|
|
NM_022168.4(IFIH1):c.369C>T (p.Pro123=)
|
rs2105237912
|
|
NM_022168.4(IFIH1):c.384G>A (p.Lys128=)
|
rs138344310
|
|
NM_022168.4(IFIH1):c.390A>C (p.Leu130=)
|
rs1442032597
|
|
NM_022168.4(IFIH1):c.390A>G (p.Leu130=)
|
|
|
NM_022168.4(IFIH1):c.409A>C (p.Lys137Gln)
|
rs2105237814
|
|
NM_022168.4(IFIH1):c.421G>A (p.Glu141Lys)
|
|
|
NM_022168.4(IFIH1):c.428T>C (p.Leu143Pro)
|
rs1231638178
|
|
NM_022168.4(IFIH1):c.438T>C (p.Ile146=)
|
rs775337458
|
|
NM_022168.4(IFIH1):c.438del (p.Ile146fs)
|
|
|
NM_022168.4(IFIH1):c.442G>A (p.Asp148Asn)
|
rs1683533087
|
|
NM_022168.4(IFIH1):c.450C>T (p.Asn150=)
|
rs745461322
|
|
NM_022168.4(IFIH1):c.452G>T (p.Arg151Leu)
|
|
|
NM_022168.4(IFIH1):c.453+11G>T
|
|
|
NM_022168.4(IFIH1):c.453+19G>C
|
rs1267044353
|
|
NM_022168.4(IFIH1):c.453+7G>A
|
rs1476583732
|
|
NM_022168.4(IFIH1):c.454-12_454-10del
|
|
|
NM_022168.4(IFIH1):c.454-16T>C
|
|
|
NM_022168.4(IFIH1):c.454-17A>G
|
|
|
NM_022168.4(IFIH1):c.45C>T (p.Ile15=)
|
rs2105238706
|
|
NM_022168.4(IFIH1):c.462del (p.Ala155fs)
|
|
|
NM_022168.4(IFIH1):c.489T>A (p.Gly163=)
|
|
|
NM_022168.4(IFIH1):c.48G>A (p.Ser16=)
|
|
|
NM_022168.4(IFIH1):c.48G>C (p.Ser16=)
|
rs1418349209
|
|
NM_022168.4(IFIH1):c.48G>T (p.Ser16=)
|
|
|
NM_022168.4(IFIH1):c.492A>T (p.Val164=)
|
|
|
NM_022168.4(IFIH1):c.516G>A (p.Val172=)
|
rs2105230556
|
|
NM_022168.4(IFIH1):c.524A>C (p.Glu175Ala)
|
|
|
NM_022168.4(IFIH1):c.540A>G (p.Ala180=)
|
rs2105230522
|
|
NM_022168.4(IFIH1):c.557G>A (p.Arg186His)
|
rs189443152
|
|
NM_022168.4(IFIH1):c.578T>A (p.Leu193His)
|
rs1405437835
|
|
NM_022168.4(IFIH1):c.582C>G (p.Val194=)
|
|
|
NM_022168.4(IFIH1):c.601G>A (p.Asp201Asn)
|
|
|
NM_022168.4(IFIH1):c.606C>T (p.Cys202=)
|
|
|
NM_022168.4(IFIH1):c.608C>T (p.Ser203Leu)
|
|
|
NM_022168.4(IFIH1):c.622+8T>C
|
rs2105230409
|
|
NM_022168.4(IFIH1):c.623-19C>T
|
|
|
NM_022168.4(IFIH1):c.623-9T>C
|
|
|
NM_022168.4(IFIH1):c.639A>G (p.Ser213=)
|
rs1683290388
|
|
NM_022168.4(IFIH1):c.645T>G (p.Val215=)
|
|
|
NM_022168.4(IFIH1):c.651T>C (p.Gly217=)
|
|
|
NM_022168.4(IFIH1):c.664G>A (p.Glu222Lys)
|
|
|
NM_022168.4(IFIH1):c.669A>G (p.Gln223=)
|
|
|
NM_022168.4(IFIH1):c.678A>G (p.Ser226=)
|
|
|
NM_022168.4(IFIH1):c.690G>A (p.Gln230=)
|
|
|
NM_022168.4(IFIH1):c.6G>T (p.Ser2=)
|
|
|
NM_022168.4(IFIH1):c.711C>G (p.Val237=)
|
|
|
NM_022168.4(IFIH1):c.727A>T (p.Asn243Tyr)
|
|
|
NM_022168.4(IFIH1):c.735A>C (p.Ser245=)
|
|
|
NM_022168.4(IFIH1):c.738A>G (p.Glu246=)
|
rs760304986
|
|
NM_022168.4(IFIH1):c.741A>G (p.Ser247=)
|
rs2105226749
|
|
NM_022168.4(IFIH1):c.743C>G (p.Ser248Cys)
|
|
|
NM_022168.4(IFIH1):c.744T>G (p.Ser248=)
|
|
|
NM_022168.4(IFIH1):c.759T>G (p.Ser253=)
|
rs2105226726
|
|
NM_022168.4(IFIH1):c.767_769+2dup
|
rs1323841528
|
|
NM_022168.4(IFIH1):c.769+16A>G
|
rs2105226690
|
|
NM_022168.4(IFIH1):c.769+18G>A
|
rs575221757
|
|
NM_022168.4(IFIH1):c.770-14G>A
|
|
|
NM_022168.4(IFIH1):c.770-37ATATTTTAAAA[3]
|
rs1231500153
|
|
NM_022168.4(IFIH1):c.799G>A (p.Val267Ile)
|
|
|
NM_022168.4(IFIH1):c.864A>G (p.Gly288=)
|
rs2105214655
|
|
NM_022168.4(IFIH1):c.874+10_874+13del
|
|
|
NM_022168.4(IFIH1):c.874+11A>T
|
|
|
NM_022168.4(IFIH1):c.874+14G>A
|
|
|
NM_022168.4(IFIH1):c.874+14G>C
|
|
|
NM_022168.4(IFIH1):c.874+15_874+22del
|
|
|
NM_022168.4(IFIH1):c.875-11A>C
|
rs186664431
|
|
NM_022168.4(IFIH1):c.875-20T>C
|
|
|
NM_022168.4(IFIH1):c.875-4T>C
|
rs2105209201
|
|
NM_022168.4(IFIH1):c.875-6C>T
|
|
|
NM_022168.4(IFIH1):c.875-9C>T
|
|
|
NM_022168.4(IFIH1):c.882G>A (p.Glu294=)
|
|
|
NM_022168.4(IFIH1):c.899C>T (p.Ala300Val)
|
|
|
NM_022168.4(IFIH1):c.901T>A (p.Ser301Thr)
|
rs988912608
|
|
NM_022168.4(IFIH1):c.903C>T (p.Ser301=)
|
|
|
NM_022168.4(IFIH1):c.921G>A (p.Gln307=)
|
|
|
NM_022168.4(IFIH1):c.924C>A (p.Leu308=)
|
|
|
NM_022168.4(IFIH1):c.924C>T (p.Leu308=)
|
rs1343497115
|
|
NM_022168.4(IFIH1):c.927G>A (p.Arg309=)
|
|
|
NM_022168.4(IFIH1):c.933C>A (p.Tyr311Ter)
|
rs1057520076
|
|
NM_022168.4(IFIH1):c.934C>T (p.Gln312Ter)
|
|
|
NM_022168.4(IFIH1):c.93G>A (p.Val31=)
|
rs900985139
|
|
NM_022168.4(IFIH1):c.948C>A (p.Ala316=)
|
rs2105209065
|
|
NM_022168.4(IFIH1):c.963A>G (p.Glu321=)
|
|
|
NM_022168.4(IFIH1):c.975C>T (p.Ile325=)
|
rs2105209011
|
|
NM_022168.4(IFIH1):c.987C>A (p.Leu329=)
|
rs746614543
|
|
NM_022168.4(IFIH1):c.996G>A (p.Gly332=)
|
|
|
NM_023110.3(FGFR1):c.2187-19C>T
|
rs376583717
|
|
NM_023110.3(FGFR1):c.381TGA[5] (p.Asp133del)
|
rs138489552
|
|
NM_024408.4(NOTCH2):c.1041T>C (p.Cys347=)
|
|
|
NM_024408.4(NOTCH2):c.1108+12_1108+14del
|
|
|
NM_024408.4(NOTCH2):c.1108+18G>A
|
|
|
NM_024408.4(NOTCH2):c.1109-18T>C
|
|
|
NM_024408.4(NOTCH2):c.1109-18T>G
|
|
|
NM_024408.4(NOTCH2):c.1113C>G (p.Leu371=)
|
rs782323295
|
|
NM_024408.4(NOTCH2):c.1116G>C (p.Leu372=)
|
|
|
NM_024408.4(NOTCH2):c.1182C>A (p.Pro394=)
|
|
|
NM_024408.4(NOTCH2):c.1183C>T (p.Leu395=)
|
|
|
NM_024408.4(NOTCH2):c.1209C>T (p.Cys403=)
|
rs781829198
|
|
NM_024408.4(NOTCH2):c.1236C>T (p.Cys412=)
|
rs2101145319
|
|
NM_024408.4(NOTCH2):c.1265-20T>G
|
|
|
NM_024408.4(NOTCH2):c.1278T>A (p.Pro426=)
|
|
|
NM_024408.4(NOTCH2):c.1281T>C (p.Cys427=)
|
|
|
NM_024408.4(NOTCH2):c.1314C>G (p.Gly438=)
|
|
|
NM_024408.4(NOTCH2):c.1314C>T (p.Gly438=)
|
rs782348587
|
|
NM_024408.4(NOTCH2):c.1347A>G (p.Ala449=)
|
|
|
NM_024408.4(NOTCH2):c.1437A>G (p.Thr479=)
|
|
|
NM_024408.4(NOTCH2):c.1453+19A>C
|
|
|
NM_024408.4(NOTCH2):c.1453+7G>C
|
rs782513711
|
|
NM_024408.4(NOTCH2):c.1454-11G>T
|
|
|
NM_024408.4(NOTCH2):c.1454-14T>A
|
rs2101141758
|
|
NM_024408.4(NOTCH2):c.1454-9T>C
|
|
|
NM_024408.4(NOTCH2):c.1521G>T (p.Gly507=)
|
|
|
NM_024408.4(NOTCH2):c.1557G>A (p.Leu519=)
|
|
|
NM_024408.4(NOTCH2):c.1557G>T (p.Leu519=)
|
|
|
NM_024408.4(NOTCH2):c.1567+16C>A
|
|
|
NM_024408.4(NOTCH2):c.1567+16C>T
|
|
|
NM_024408.4(NOTCH2):c.1567+17_1567+18insTAA
|
|
|
NM_024408.4(NOTCH2):c.1567+19G>A
|
|
|
NM_024408.4(NOTCH2):c.1567+19del
|
|
|
NM_024408.4(NOTCH2):c.1567+20C>G
|
|
|
NM_024408.4(NOTCH2):c.1568-11C>T
|
rs2101140224
|
|
NM_024408.4(NOTCH2):c.1568-16A>G
|
|
|
NM_024408.4(NOTCH2):c.1568-18C>T
|
|
|
NM_024408.4(NOTCH2):c.1602T>C (p.Asp534=)
|
|
|
NM_024408.4(NOTCH2):c.1620G>A (p.Pro540=)
|
|
|
NM_024408.4(NOTCH2):c.1620G>T (p.Pro540=)
|
|
|
NM_024408.4(NOTCH2):c.1624C>T (p.Leu542=)
|
|
|
NM_024408.4(NOTCH2):c.1662T>C (p.Tyr554=)
|
|
|
NM_024408.4(NOTCH2):c.1681+19T>A
|
|
|
NM_024408.4(NOTCH2):c.1681+19T>G
|
|
|
NM_024408.4(NOTCH2):c.1681+8T>A
|
|
|
NM_024408.4(NOTCH2):c.1719C>T (p.Asn573=)
|
|
|
NM_024408.4(NOTCH2):c.1728C>T (p.Pro576=)
|
|
|
NM_024408.4(NOTCH2):c.1785C>T (p.Cys595=)
|
|
|
NM_024408.4(NOTCH2):c.1854C>T (p.Asn618=)
|
|
|
NM_024408.4(NOTCH2):c.1905A>G (p.Pro635=)
|
|
|
NM_024408.4(NOTCH2):c.1915+9A>G
|
|
|
NM_024408.4(NOTCH2):c.1916-18T>C
|
|
|
NM_024408.4(NOTCH2):c.1916-19G>A
|
|
|
NM_024408.4(NOTCH2):c.1916-20C>T
|
|
|
NM_024408.4(NOTCH2):c.1923T>C (p.Asn641=)
|
|
|
NM_024408.4(NOTCH2):c.2016A>G (p.Pro672=)
|
|
|
NM_024408.4(NOTCH2):c.2026+11_2026+19dup
|
rs782391545
|
|
NM_024408.4(NOTCH2):c.2026+13T>C
|
|
|
NM_024408.4(NOTCH2):c.2027-6C>A
|
|
|
NM_024408.4(NOTCH2):c.2027-7T>C
|
|
|
NM_024408.4(NOTCH2):c.2038A>G (p.Asn680Asp)
|
|
|
NM_024408.4(NOTCH2):c.2064C>T (p.Ser688=)
|
rs2101124725
|
|
NM_024408.4(NOTCH2):c.2097C>T (p.Asn699=)
|
|
|
NM_024408.4(NOTCH2):c.2142C>T (p.His714=)
|
rs1553198250
|
|
NM_024408.4(NOTCH2):c.2178C>T (p.Ser726=)
|
|
|
NM_024408.4(NOTCH2):c.2219+15C>T
|
|
|
NM_024408.4(NOTCH2):c.2219+17T>C
|
|
|
NM_024408.4(NOTCH2):c.2220-19A>C
|
|
|
NM_024408.4(NOTCH2):c.2220-19_2220-18del
|
|
|
NM_024408.4(NOTCH2):c.2223T>C (p.Tyr741=)
|
rs1264806894
|
|
NM_024408.4(NOTCH2):c.2244C>G (p.Gly748=)
|
|
|
NM_024408.4(NOTCH2):c.2365+16C>T
|
|
|
NM_024408.4(NOTCH2):c.2366-4A>G
|
|
|
NM_024408.4(NOTCH2):c.2439C>T (p.Asp813=)
|
|
|
NM_024408.4(NOTCH2):c.2451C>T (p.Tyr817=)
|
|
|
NM_024408.4(NOTCH2):c.2480-13A>G
|
|
|
NM_024408.4(NOTCH2):c.2480-14C>T
|
|
|
NM_024408.4(NOTCH2):c.2480-20C>T
|
|
|
NM_024408.4(NOTCH2):c.2480-23_2480-12del
|
|
|
NM_024408.4(NOTCH2):c.2480-7T>C
|
|
|
NM_024408.4(NOTCH2):c.2496A>G (p.Thr832=)
|
|
|
NM_024408.4(NOTCH2):c.2599+18G>C
|
|
|
NM_024408.4(NOTCH2):c.2599+9A>G
|
|
|
NM_024408.4(NOTCH2):c.2600-18T>C
|
|
|
NM_024408.4(NOTCH2):c.2661C>T (p.Leu887=)
|
|
|
NM_024408.4(NOTCH2):c.2685C>T (p.Tyr895=)
|
|
|
NM_024408.4(NOTCH2):c.2694A>G (p.Glu898=)
|
|
|
NM_024408.4(NOTCH2):c.2753-12G>T
|
|
|
NM_024408.4(NOTCH2):c.2753-14T>C
|
|
|
NM_024408.4(NOTCH2):c.2753-16T>C
|
|
|
NM_024408.4(NOTCH2):c.2753-19T>A
|
|
|
NM_024408.4(NOTCH2):c.2811C>T (p.Cys937=)
|
|
|
NM_024408.4(NOTCH2):c.2859T>C (p.Cys953=)
|
|
|
NM_024408.4(NOTCH2):c.2892C>T (p.Cys964=)
|
|
|
NM_024408.4(NOTCH2):c.2946C>T (p.Val982=)
|
|
|
NM_024408.4(NOTCH2):c.2949T>C (p.His983=)
|
rs1557814141
|
|
NM_024408.4(NOTCH2):c.2981+19G>A
|
|
|
NM_024408.4(NOTCH2):c.2981+19G>T
|
rs781966382
|
|
NM_024408.4(NOTCH2):c.2982-20T>A
|
|
|
NM_024408.4(NOTCH2):c.2982-9G>T
|
rs2101104058
|
|
NM_024408.4(NOTCH2):c.3003A>G (p.Thr1001=)
|
|
|
NM_024408.4(NOTCH2):c.3039C>T (p.Cys1013=)
|
rs2101103938
|
|
NM_024408.4(NOTCH2):c.3060C>T (p.Ser1020=)
|
rs1650034316
|
|
NM_024408.4(NOTCH2):c.3075G>A (p.Glu1025=)
|
rs782566942
|
|
NM_024408.4(NOTCH2):c.3105G>A (p.Leu1035=)
|
rs2101103792
|
|
NM_024408.4(NOTCH2):c.3108T>C (p.Asn1036=)
|
|
|
NM_024408.4(NOTCH2):c.3111G>A (p.Glu1037=)
|
|
|
NM_024408.4(NOTCH2):c.3123T>G (p.Val1041=)
|
rs782150297
|
|
NM_024408.4(NOTCH2):c.3141C>T (p.Tyr1047=)
|
|
|
NM_024408.4(NOTCH2):c.3144C>T (p.Arg1048=)
|
|
|
NM_024408.4(NOTCH2):c.3171G>A (p.Gly1057=)
|
|
|
NM_024408.4(NOTCH2):c.3183+14T>G
|
|
|
NM_024408.4(NOTCH2):c.3183+15T>C
|
|
|
NM_024408.4(NOTCH2):c.3187C>T (p.Leu1063=)
|
|
|
NM_024408.4(NOTCH2):c.3205C>A (p.Arg1069=)
|
rs61752485
|
|
NM_024408.4(NOTCH2):c.3207G>C (p.Arg1069=)
|
|
|
NM_024408.4(NOTCH2):c.3210T>A (p.Ser1070=)
|
|
|
NM_024408.4(NOTCH2):c.3264A>G (p.Leu1088=)
|
|
|
NM_024408.4(NOTCH2):c.3297C>T (p.Asp1099=)
|
|
|
NM_024408.4(NOTCH2):c.3318C>T (p.Asp1106=)
|
|
|
NM_024408.4(NOTCH2):c.3339T>C (p.Gly1113=)
|
|
|
NM_024408.4(NOTCH2):c.3396G>A (p.Thr1132=)
|
|
|
NM_024408.4(NOTCH2):c.3396G>T (p.Thr1132=)
|
|
|
NM_024408.4(NOTCH2):c.3402C>T (p.Tyr1134=)
|
|
|
NM_024408.4(NOTCH2):c.3408G>A (p.Gln1136=)
|
|
|
NM_024408.4(NOTCH2):c.3480C>T (p.His1160=)
|
|
|
NM_024408.4(NOTCH2):c.3489A>G (p.Thr1163=)
|
|
|
NM_024408.4(NOTCH2):c.3523-10C>T
|
rs2101182888
|
|
NM_024408.4(NOTCH2):c.3523-15_3523-13del
|
rs782523879
|
|
NM_024408.4(NOTCH2):c.3523-17T>C
|
|
|
NM_024408.4(NOTCH2):c.3576G>A (p.Gln1192=)
|
|
|
NM_024408.4(NOTCH2):c.3624T>C (p.His1208=)
|
|
|
NM_024408.4(NOTCH2):c.3655+12T>A
|
|
|
NM_024408.4(NOTCH2):c.3655+18T>C
|
|
|
NM_024408.4(NOTCH2):c.3656-13C>T
|
|
|
NM_024408.4(NOTCH2):c.3656-16C>G
|
|
|
NM_024408.4(NOTCH2):c.3656-6C>T
|
|
|
NM_024408.4(NOTCH2):c.3684C>T (p.Asp1228=)
|
|
|
NM_024408.4(NOTCH2):c.3720G>A (p.Gln1240=)
|
|
|
NM_024408.4(NOTCH2):c.3723C>T (p.Cys1241=)
|
|
|
NM_024408.4(NOTCH2):c.3750T>C (p.Cys1250=)
|
rs2101169348
|
|
NM_024408.4(NOTCH2):c.3789A>C (p.Gly1263=)
|
rs149036937
|
|
NM_024408.4(NOTCH2):c.3892+12T>C
|
|
|
NM_024408.4(NOTCH2):c.3892+13C>G
|
|
|
NM_024408.4(NOTCH2):c.3893-11T>A
|
|
|
NM_024408.4(NOTCH2):c.3893-19T>C
|
|
|
NM_024408.4(NOTCH2):c.3894C>G (p.Gly1298=)
|
|
|
NM_024408.4(NOTCH2):c.3897G>A (p.Arg1299=)
|
|
|
NM_024408.4(NOTCH2):c.4005+13T>C
|
|
|
NM_024408.4(NOTCH2):c.4005+14T>C
|
|
|
NM_024408.4(NOTCH2):c.4005+9C>A
|
|
|
NM_024408.4(NOTCH2):c.4006-18C>T
|
|
|
NM_024408.4(NOTCH2):c.4006-4A>G
|
rs2101163396
|
|
NM_024408.4(NOTCH2):c.4023G>A (p.Arg1341=)
|
|
|
NM_024408.4(NOTCH2):c.4065G>A (p.Glu1355=)
|
|
|
NM_024408.4(NOTCH2):c.4077C>T (p.His1359=)
|
|
|
NM_024408.4(NOTCH2):c.4080C>T (p.Thr1360=)
|
|
|
NM_024408.4(NOTCH2):c.4083C>T (p.Ala1361=)
|
|
|
NM_024408.4(NOTCH2):c.4185T>A (p.Pro1395=)
|
rs1553194472
|
|
NM_024408.4(NOTCH2):c.4194C>T (p.Tyr1398=)
|
|
|
NM_024408.4(NOTCH2):c.4197C>G (p.Ser1399=)
|
|
|
NM_024408.4(NOTCH2):c.4197C>T (p.Ser1399=)
|
|
|
NM_024408.4(NOTCH2):c.4221G>A (p.Ser1407=)
|
|
|
NM_024408.4(NOTCH2):c.4233T>C (p.Cys1411=)
|
|
|
NM_024408.4(NOTCH2):c.4245G>A (p.Thr1415=)
|
|
|
NM_024408.4(NOTCH2):c.4278G>A (p.Leu1426=)
|
|
|
NM_024408.4(NOTCH2):c.4293C>T (p.Ala1431=)
|
|
|
NM_024408.4(NOTCH2):c.4304G>A (p.Arg1435Gln)
|
rs747190078
|
|
NM_024408.4(NOTCH2):c.4341C>G (p.Ala1447=)
|
|
|
NM_024408.4(NOTCH2):c.4341C>T (p.Ala1447=)
|
|
|
NM_024408.4(NOTCH2):c.4344C>T (p.Cys1448=)
|
|
|
NM_024408.4(NOTCH2):c.4355G>A (p.Gly1452Glu)
|
|
|
NM_024408.4(NOTCH2):c.4398C>T (p.Cys1466=)
|
|
|
NM_024408.4(NOTCH2):c.4407A>C (p.Pro1469=)
|
|
|
NM_024408.4(NOTCH2):c.4470G>C (p.Leu1490=)
|
|
|
NM_024408.4(NOTCH2):c.4491G>A (p.Gln1497=)
|
|
|
NM_024408.4(NOTCH2):c.4494G>A (p.Gly1498=)
|
|
|
NM_024408.4(NOTCH2):c.4497C>T (p.Asn1499=)
|
|
|
NM_024408.4(NOTCH2):c.4511+10T>C
|
|
|
NM_024408.4(NOTCH2):c.4511+13C>G
|
|
|
NM_024408.4(NOTCH2):c.4511+14G>A
|
|
|
NM_024408.4(NOTCH2):c.4512-10C>G
|
|
|
NM_024408.4(NOTCH2):c.4512-18C>G
|
|
|
NM_024408.4(NOTCH2):c.4512-21_4512-19del
|
|
|
NM_024408.4(NOTCH2):c.4515T>C (p.Tyr1505=)
|
|
|
NM_024408.4(NOTCH2):c.4665T>C (p.Pro1555=)
|
rs587722015
|
|
NM_024408.4(NOTCH2):c.4758A>G (p.Glu1586=)
|
|
|
NM_024408.4(NOTCH2):c.4767G>T (p.Val1589=)
|
|
|
NM_024408.4(NOTCH2):c.4859+18G>A
|
|
|
NM_024408.4(NOTCH2):c.4860-15C>T
|
|
|
NM_024408.4(NOTCH2):c.4860-8T>A
|
|
|
NM_024408.4(NOTCH2):c.4884C>T (p.Asp1628=)
|
|
|
NM_024408.4(NOTCH2):c.4938A>G (p.Ala1646=)
|
rs886042285
|
|
NM_024408.4(NOTCH2):c.4947C>T (p.Leu1649=)
|
|
|
NM_024408.4(NOTCH2):c.4959C>T (p.His1653=)
|
|
|
NM_024408.4(NOTCH2):c.4999G>A (p.Val1667Ile)
|
rs17024517
|
|
NM_024408.4(NOTCH2):c.5002+20A>T
|
|
|
NM_024408.4(NOTCH2):c.5003-11T>C
|
|
|
NM_024408.4(NOTCH2):c.5003-11_5003-10del
|
rs2101155029
|
|
NM_024408.4(NOTCH2):c.5003-16C>A
|
rs762603409
|
|
NM_024408.4(NOTCH2):c.5003-7C>A
|
|
|
NM_024408.4(NOTCH2):c.5037C>G (p.Leu1679=)
|
|
|
NM_024408.4(NOTCH2):c.5064C>A (p.Ile1688=)
|
|
|
NM_024408.4(NOTCH2):c.5082G>A (p.Leu1694=)
|
|
|
NM_024408.4(NOTCH2):c.5148T>C (p.Thr1716=)
|
|
|
NM_024408.4(NOTCH2):c.5178T>C (p.Arg1726=)
|
|
|
NM_024408.4(NOTCH2):c.5213+16A>G
|
rs974114448
|
|
NM_024408.4(NOTCH2):c.5213+9C>A
|
|
|
NM_024408.4(NOTCH2):c.5310+17A>G
|
|
|
NM_024408.4(NOTCH2):c.5310+17A>T
|
|
|
NM_024408.4(NOTCH2):c.5310+7T>G
|
|
|
NM_024408.4(NOTCH2):c.5311-20G>C
|
|
|
NM_024408.4(NOTCH2):c.5311-5T>G
|
|
|
NM_024408.4(NOTCH2):c.5311-7C>G
|
|
|
NM_024408.4(NOTCH2):c.5412G>A (p.Ser1804=)
|
|
|
NM_024408.4(NOTCH2):c.5454G>A (p.Val1818=)
|
|
|
NM_024408.4(NOTCH2):c.5479+10G>A
|
|
|
NM_024408.4(NOTCH2):c.5479+10G>T
|
|
|
NM_024408.4(NOTCH2):c.5479+19C>A
|
|
|
NM_024408.4(NOTCH2):c.5479+8C>T
|
|
|
NM_024408.4(NOTCH2):c.5480-5T>C
|
|
|
NM_024408.4(NOTCH2):c.5480-6C>T
|
|
|
NM_024408.4(NOTCH2):c.5520C>T (p.Gly1840=)
|
|
|
NM_024408.4(NOTCH2):c.5523C>T (p.Ser1841=)
|
|
|
NM_024408.4(NOTCH2):c.5553A>G (p.Ala1851=)
|
|
|
NM_024408.4(NOTCH2):c.5622C>T (p.Asp1874=)
|
rs2101149878
|
|
NM_024408.4(NOTCH2):c.5781+10A>C
|
rs369586235
|
|
NM_024408.4(NOTCH2):c.5781+10A>G
|
|
|
NM_024408.4(NOTCH2):c.5781+14G>A
|
|
|
NM_024408.4(NOTCH2):c.5781+19G>A
|
|
|
NM_024408.4(NOTCH2):c.5782-5T>C
|
|
|
NM_024408.4(NOTCH2):c.5782-7C>G
|
|
|
NM_024408.4(NOTCH2):c.5814T>C (p.Asp1938=)
|
|
|
NM_024408.4(NOTCH2):c.5898C>T (p.Cys1966=)
|
|
|
NM_024408.4(NOTCH2):c.5904G>T (p.Ala1968=)
|
rs149442704
|
|
NM_024408.4(NOTCH2):c.5929+12A>G
|
rs1003030783
|
|
NM_024408.4(NOTCH2):c.5946C>T (p.His1982=)
|
|
|
NM_024408.4(NOTCH2):c.5970G>A (p.Val1990=)
|
|
|
NM_024408.4(NOTCH2):c.6003C>T (p.Ala2001=)
|
rs267597957
|
|
NM_024408.4(NOTCH2):c.6007C>A (p.Arg2003=)
|
|
|
NM_024408.4(NOTCH2):c.6027+10G>C
|
|
|
NM_024408.4(NOTCH2):c.6028-16T>C
|
|
|
NM_024408.4(NOTCH2):c.6042G>C (p.Leu2014=)
|
rs1000209105
|
|
NM_024408.4(NOTCH2):c.6084C>A (p.Ile2028=)
|
|
|
NM_024408.4(NOTCH2):c.6088T>C (p.Leu2030=)
|
|
|
NM_024408.4(NOTCH2):c.6123T>C (p.His2041=)
|
|
|
NM_024408.4(NOTCH2):c.6141G>A (p.Arg2047=)
|
rs1649083144
|
|
NM_024408.4(NOTCH2):c.6171C>T (p.Asp2057=)
|
|
|
NM_024408.4(NOTCH2):c.6234T>C (p.Ser2078=)
|
|
|
NM_024408.4(NOTCH2):c.6279C>T (p.Ser2093=)
|
rs1425019919
|
|
NM_024408.4(NOTCH2):c.6282G>A (p.Leu2094=)
|
rs2101144593
|
|
NM_024408.4(NOTCH2):c.6342T>C (p.Thr2114=)
|
|
|
NM_024408.4(NOTCH2):c.6388A>C (p.Arg2130=)
|
|
|
NM_024408.4(NOTCH2):c.6393G>A (p.Arg2131=)
|
|
|
NM_024408.4(NOTCH2):c.6414G>A (p.Lys2138=)
|
|
|
NM_024408.4(NOTCH2):c.6435A>G (p.Ser2145=)
|
|
|
NM_024408.4(NOTCH2):c.6474C>T (p.His2158=)
|
rs1649064512
|
|
NM_024408.4(NOTCH2):c.6498C>T (p.Ser2166=)
|
|
|
NM_024408.4(NOTCH2):c.6561C>T (p.Ala2187=)
|
|
|
NM_024408.4(NOTCH2):c.6564C>G (p.Ala2188=)
|
rs750483323
|
|
NM_024408.4(NOTCH2):c.6582T>C (p.His2194=)
|
|
|
NM_024408.4(NOTCH2):c.6597A>G (p.Leu2199=)
|
|
|
NM_024408.4(NOTCH2):c.6633A>C (p.Ala2211=)
|
|
|
NM_024408.4(NOTCH2):c.6645C>T (p.Ser2215=)
|
|
|
NM_024408.4(NOTCH2):c.6675A>G (p.Leu2225=)
|
|
|
NM_024408.4(NOTCH2):c.6678C>T (p.Ser2226=)
|
|
|
NM_024408.4(NOTCH2):c.6699A>G (p.Pro2233=)
|
|
|
NM_024408.4(NOTCH2):c.6729G>A (p.Arg2243=)
|
rs1649053941
|
|
NM_024408.4(NOTCH2):c.6825T>G (p.Ala2275=)
|
rs372580607
|
|
NM_024408.4(NOTCH2):c.6855G>A (p.Gln2285=)
|
|
|
NM_024408.4(NOTCH2):c.6909C>T (p.Pro2303=)
|
|
|
NM_024408.4(NOTCH2):c.6960G>T (p.Gly2320=)
|
|
|
NM_024408.4(NOTCH2):c.7002C>T (p.Gly2334=)
|
rs1557801738
|
|
NM_024408.4(NOTCH2):c.7077C>T (p.Pro2359=)
|
|
|
NM_024408.4(NOTCH2):c.7125T>C (p.Pro2375=)
|
|
|
NM_024408.4(NOTCH2):c.7125T>G (p.Pro2375=)
|
|
|
NM_024408.4(NOTCH2):c.7176T>C (p.Tyr2392=)
|
|
|
NM_024408.4(NOTCH2):c.7197G>A (p.Glu2399=)
|
|
|
NM_024408.4(NOTCH2):c.7206C>G (p.Pro2402=)
|
|
|
NM_024408.4(NOTCH2):c.7218T>C (p.Gly2406=)
|
|
|
NM_024408.4(NOTCH2):c.7224C>T (p.Leu2408=)
|
|
|
NM_024408.4(NOTCH2):c.7317G>T (p.Val2439=)
|
|
|
NM_024408.4(NOTCH2):c.7323C>A (p.Thr2441=)
|
|
|
NM_024408.4(NOTCH2):c.7326C>T (p.Ser2442=)
|
rs2101141240
|
|
NM_024408.4(NOTCH2):c.7338G>A (p.Gly2446=)
|
rs372087953
|
|
NM_024408.4(NOTCH2):c.7338G>T (p.Gly2446=)
|
|
|
NM_024408.4(NOTCH2):c.7353T>A (p.Gly2451=)
|
|
|
NM_024408.4(NOTCH2):c.7353T>C (p.Gly2451=)
|
|
|
NM_024408.4(NOTCH2):c.7368G>C (p.Gly2456=)
|
|
|
NM_024408.4(NOTCH2):c.7389A>G (p.Pro2463=)
|
|
|
NM_024408.4(NOTCH2):c.7413G>C (p.Ala2471=)
|
|
|
NM_024408.4(NOTCH2):c.752-13C>G
|
|
|
NM_024408.4(NOTCH2):c.752-16G>A
|
|
|
NM_024408.4(NOTCH2):c.762G>C (p.Gly254=)
|
|
|
NM_024408.4(NOTCH2):c.768C>T (p.Thr256=)
|
|
|
NM_024408.4(NOTCH2):c.843T>C (p.Thr281=)
|
rs2101184870
|
|
NM_024408.4(NOTCH2):c.874+12G>A
|
|
|
NM_024408.4(NOTCH2):c.874+7A>G
|
|
|
NM_024408.4(NOTCH2):c.875-15A>C
|
|
|
NM_024408.4(NOTCH2):c.875-18G>A
|
|
|
NM_024408.4(NOTCH2):c.875-8C>G
|
|
|
NM_024408.4(NOTCH2):c.909G>A (p.Leu303=)
|
rs781969024
|
|
NM_024408.4(NOTCH2):c.984C>T (p.Asn328=)
|
|
|
NM_024529.5(CDC73):c.*3641G>A
|
rs565579791
|
|
NM_024529.5(CDC73):c.*3786T>C
|
rs74130943
|
|
NM_024529.5(CDC73):c.*3808TTG[1]
|
rs143131672
|
|
NM_024529.5(CDC73):c.132-17T>G
|
rs2103113863
|
|
NM_024529.5(CDC73):c.829-5dup
|
rs755393679
|
|
NM_024529.5(CDC73):c.908-6del
|
rs563805986
|
|
NM_024570.4(RNASEH2B):c.126C>T (p.Asn42=)
|
|
|
NM_024570.4(RNASEH2B):c.12C>G (p.Gly4=)
|
|
|
NM_024570.4(RNASEH2B):c.132T>C (p.Cys44=)
|
|
|
NM_024570.4(RNASEH2B):c.136+10C>G
|
|
|
NM_024570.4(RNASEH2B):c.136+15C>A
|
rs2137925214
|
|
NM_024570.4(RNASEH2B):c.137-10G>A
|
|
|
NM_024570.4(RNASEH2B):c.137-11del
|
rs1163774369
|
|
NM_024570.4(RNASEH2B):c.137-17_137-14del
|
|
|
NM_024570.4(RNASEH2B):c.137-8C>T
|
|
|
NM_024570.4(RNASEH2B):c.150T>C (p.Ile50=)
|
|
|
NM_024570.4(RNASEH2B):c.153C>T (p.Tyr51=)
|
rs772503413
|
|
NM_024570.4(RNASEH2B):c.15G>T (p.Val5=)
|
|
|
NM_024570.4(RNASEH2B):c.171A>G (p.Leu57=)
|
|
|
NM_024570.4(RNASEH2B):c.178C>T (p.Leu60=)
|
|
|
NM_024570.4(RNASEH2B):c.180G>C (p.Leu60=)
|
rs556877869
|
|
NM_024570.4(RNASEH2B):c.18C>T (p.Asp6=)
|
rs2137866261
|
|
NM_024570.4(RNASEH2B):c.192A>G (p.Lys64=)
|
|
|
NM_024570.4(RNASEH2B):c.207A>G (p.Lys69=)
|
|
|
NM_024570.4(RNASEH2B):c.21C>T (p.Cys7=)
|
|
|
NM_024570.4(RNASEH2B):c.222T>C (p.Phe74=)
|
|
|
NM_024570.4(RNASEH2B):c.231A>G (p.Gln77=)
|
|
|
NM_024570.4(RNASEH2B):c.234A>C (p.Ser78=)
|
|
|
NM_024570.4(RNASEH2B):c.234A>G (p.Ser78=)
|
|
|
NM_024570.4(RNASEH2B):c.244+12G>A
|
|
|
NM_024570.4(RNASEH2B):c.245-12T>C
|
|
|
NM_024570.4(RNASEH2B):c.245-12T>G
|
rs1019503838
|
|
NM_024570.4(RNASEH2B):c.245-20A>T
|
rs1335370320
|
|
NM_024570.4(RNASEH2B):c.245-20_245-19del
|
rs2137937744
|
|
NM_024570.4(RNASEH2B):c.245-5T>C
|
|
|
NM_024570.4(RNASEH2B):c.245-7T>C
|
|
|
NM_024570.4(RNASEH2B):c.282A>G (p.Leu94=)
|
|
|
NM_024570.4(RNASEH2B):c.288G>T (p.Leu96=)
|
|
|
NM_024570.4(RNASEH2B):c.294C>A (p.Leu98=)
|
|
|
NM_024570.4(RNASEH2B):c.294C>T (p.Leu98=)
|
|
|
NM_024570.4(RNASEH2B):c.30G>A (p.Gly10=)
|
rs1244567393
|
|
NM_024570.4(RNASEH2B):c.318G>A (p.Lys106=)
|
|
|
NM_024570.4(RNASEH2B):c.321+10C>T
|
|
|
NM_024570.4(RNASEH2B):c.321+11A>G
|
|
|
NM_024570.4(RNASEH2B):c.321+12G>T
|
|
|
NM_024570.4(RNASEH2B):c.321+15C>G
|
|
|
NM_024570.4(RNASEH2B):c.321+16G>C
|
|
|
NM_024570.4(RNASEH2B):c.321+16_321+17dup
|
|
|
NM_024570.4(RNASEH2B):c.321+18A>C
|
|
|
NM_024570.4(RNASEH2B):c.321+18A>T
|
|
|
NM_024570.4(RNASEH2B):c.321+20C>T
|
|
|
NM_024570.4(RNASEH2B):c.322-10G>A
|
|
|
NM_024570.4(RNASEH2B):c.322-10_322-9del
|
rs748279384
|
|
NM_024570.4(RNASEH2B):c.322-14A>G
|
|
|
NM_024570.4(RNASEH2B):c.322-14_322-11del
|
|
|
NM_024570.4(RNASEH2B):c.322-15T>C
|
|
|
NM_024570.4(RNASEH2B):c.322-15dup
|
|
|
NM_024570.4(RNASEH2B):c.322-18A>G
|
|
|
NM_024570.4(RNASEH2B):c.322-18A>T
|
rs1307534508
|
|
NM_024570.4(RNASEH2B):c.322-19C>A
|
rs1951726082
|
|
NM_024570.4(RNASEH2B):c.322-4T>A
|
rs1206184671
|
|
NM_024570.4(RNASEH2B):c.322-5T>C
|
|
|
NM_024570.4(RNASEH2B):c.322-9T>G
|
|
|
NM_024570.4(RNASEH2B):c.324G>A (p.Gly108=)
|
|
|
NM_024570.4(RNASEH2B):c.327G>A (p.Lys109=)
|
|
|
NM_024570.4(RNASEH2B):c.333G>A (p.Gln111=)
|
rs1951726697
|
|
NM_024570.4(RNASEH2B):c.336C>G (p.Pro112=)
|
rs1161911136
|
|
NM_024570.4(RNASEH2B):c.336C>T (p.Pro112=)
|
|
|
NM_024570.4(RNASEH2B):c.354G>A (p.Val118=)
|
rs1951726994
|
|
NM_024570.4(RNASEH2B):c.375C>T (p.Cys125=)
|
|
|
NM_024570.4(RNASEH2B):c.396T>G (p.Pro132=)
|
|
|
NM_024570.4(RNASEH2B):c.402T>G (p.Leu134=)
|
|
|
NM_024570.4(RNASEH2B):c.408G>A (p.Lys136=)
|
|
|
NM_024570.4(RNASEH2B):c.420T>C (p.His140=)
|
|
|
NM_024570.4(RNASEH2B):c.426A>G (p.Thr142=)
|
rs2137952831
|
|
NM_024570.4(RNASEH2B):c.436+10A>C
|
rs2137952956
|
|
NM_024570.4(RNASEH2B):c.436+8A>G
|
|
|
NM_024570.4(RNASEH2B):c.437-18T>A
|
|
|
NM_024570.4(RNASEH2B):c.437-20A>G
|
|
|
NM_024570.4(RNASEH2B):c.437-5T>C
|
|
|
NM_024570.4(RNASEH2B):c.437-9T>C
|
|
|
NM_024570.4(RNASEH2B):c.444A>G (p.Pro148=)
|
|
|
NM_024570.4(RNASEH2B):c.456C>T (p.Asn152=)
|
|
|
NM_024570.4(RNASEH2B):c.468C>T (p.Tyr156=)
|
|
|
NM_024570.4(RNASEH2B):c.474C>T (p.Tyr158=)
|
|
|
NM_024570.4(RNASEH2B):c.483G>A (p.Glu161=)
|
|
|
NM_024570.4(RNASEH2B):c.489A>G (p.Thr163=)
|
|
|
NM_024570.4(RNASEH2B):c.492A>G (p.Leu164=)
|
rs1223516700
|
|
NM_024570.4(RNASEH2B):c.501G>A (p.Leu167=)
|
rs1951857767
|
|
NM_024570.4(RNASEH2B):c.510+10C>T
|
|
|
NM_024570.4(RNASEH2B):c.510+12C>G
|
|
|
NM_024570.4(RNASEH2B):c.510+12C>T
|
|
|
NM_024570.4(RNASEH2B):c.510+13T>C
|
|
|
NM_024570.4(RNASEH2B):c.510+17G>A
|
|
|
NM_024570.4(RNASEH2B):c.510+19G>A
|
|
|
NM_024570.4(RNASEH2B):c.510+7T>G
|
rs1030880550
|
|
NM_024570.4(RNASEH2B):c.511-16C>T
|
|
|
NM_024570.4(RNASEH2B):c.511-18C>A
|
|
|
NM_024570.4(RNASEH2B):c.511-19C>A
|
|
|
NM_024570.4(RNASEH2B):c.511-4A>T
|
|
|
NM_024570.4(RNASEH2B):c.511-5C>A
|
rs2137990410
|
|
NM_024570.4(RNASEH2B):c.511-9G>A
|
|
|
NM_024570.4(RNASEH2B):c.522T>C (p.Thr174=)
|
rs200390483
|
|
NM_024570.4(RNASEH2B):c.531A>G (p.Ala177=)
|
rs2137990642
|
|
NM_024570.4(RNASEH2B):c.54C>T (p.Phe18=)
|
rs2137866619
|
|
NM_024570.4(RNASEH2B):c.555C>G (p.Val185=)
|
|
|
NM_024570.4(RNASEH2B):c.579A>G (p.Ala193=)
|
|
|
NM_024570.4(RNASEH2B):c.597A>G (p.Gln199=)
|
|
|
NM_024570.4(RNASEH2B):c.616+10G>A
|
|
|
NM_024570.4(RNASEH2B):c.616+10G>T
|
|
|
NM_024570.4(RNASEH2B):c.616+12A>G
|
|
|
NM_024570.4(RNASEH2B):c.616+13T>C
|
|
|
NM_024570.4(RNASEH2B):c.616+9dup
|
|
|
NM_024570.4(RNASEH2B):c.617-11G>A
|
rs201473333
|
|
NM_024570.4(RNASEH2B):c.617-11G>C
|
|
|
NM_024570.4(RNASEH2B):c.617-12del
|
|
|
NM_024570.4(RNASEH2B):c.617-14T>C
|
|
|
NM_024570.4(RNASEH2B):c.617-14_617-12del
|
|
|
NM_024570.4(RNASEH2B):c.617-17_617-15del
|
rs781083153
|
|
NM_024570.4(RNASEH2B):c.617-19C>T
|
|
|
NM_024570.4(RNASEH2B):c.617-6T>A
|
|
|
NM_024570.4(RNASEH2B):c.617-9_617-8del
|
|
|
NM_024570.4(RNASEH2B):c.639T>C (p.His213=)
|
rs1265842301
|
|
NM_024570.4(RNASEH2B):c.64+11G>A
|
|
|
NM_024570.4(RNASEH2B):c.64+11G>T
|
|
|
NM_024570.4(RNASEH2B):c.64+13G>T
|
|
|
NM_024570.4(RNASEH2B):c.64+14C>T
|
|
|
NM_024570.4(RNASEH2B):c.64+16C>G
|
|
|
NM_024570.4(RNASEH2B):c.64+16C>T
|
rs1321434798
|
|
NM_024570.4(RNASEH2B):c.64+17G>A
|
rs1451402273
|
|
NM_024570.4(RNASEH2B):c.64+7_64+8del
|
|
|
NM_024570.4(RNASEH2B):c.645G>A (p.Leu215=)
|
|
|
NM_024570.4(RNASEH2B):c.65-13G>C
|
|
|
NM_024570.4(RNASEH2B):c.65-18T>A
|
rs2137924729
|
|
NM_024570.4(RNASEH2B):c.65-19A>G
|
rs2137924712
|
|
NM_024570.4(RNASEH2B):c.698+13T>A
|
|
|
NM_024570.4(RNASEH2B):c.698+14A>G
|
|
|
NM_024570.4(RNASEH2B):c.698+16C>A
|
|
|
NM_024570.4(RNASEH2B):c.699-10A>T
|
|
|
NM_024570.4(RNASEH2B):c.699-20G>A
|
rs749427005
|
|
NM_024570.4(RNASEH2B):c.699-6T>C
|
|
|
NM_024570.4(RNASEH2B):c.6C>G (p.Ala2=)
|
|
|
NM_024570.4(RNASEH2B):c.702T>C (p.Leu234=)
|
|
|
NM_024570.4(RNASEH2B):c.705A>G (p.Pro235=)
|
|
|
NM_024570.4(RNASEH2B):c.721T>C (p.Leu241=)
|
|
|
NM_024570.4(RNASEH2B):c.72A>G (p.Leu24=)
|
rs748052389
|
|
NM_024570.4(RNASEH2B):c.735A>G (p.Pro245=)
|
|
|
NM_024570.4(RNASEH2B):c.741+11G>A
|
|
|
NM_024570.4(RNASEH2B):c.741+20A>G
|
|
|
NM_024570.4(RNASEH2B):c.741+8G>A
|
|
|
NM_024570.4(RNASEH2B):c.741+8G>T
|
|
|
NM_024570.4(RNASEH2B):c.742-12C>T
|
rs779113809
|
|
NM_024570.4(RNASEH2B):c.742-13T>C
|
|
|
NM_024570.4(RNASEH2B):c.742-15G>T
|
rs2138019958
|
|
NM_024570.4(RNASEH2B):c.742-19C>T
|
|
|
NM_024570.4(RNASEH2B):c.783T>C (p.Asp261=)
|
rs1432063381
|
|
NM_024570.4(RNASEH2B):c.789T>C (p.Thr263=)
|
|
|
NM_024570.4(RNASEH2B):c.78T>C (p.Asp26=)
|
|
|
NM_024570.4(RNASEH2B):c.810G>A (p.Leu270=)
|
|
|
NM_024570.4(RNASEH2B):c.813G>A (p.Lys271=)
|
|
|
NM_024570.4(RNASEH2B):c.822+14G>A
|
|
|
NM_024570.4(RNASEH2B):c.822+15G>A
|
|
|
NM_024570.4(RNASEH2B):c.822+15G>T
|
|
|
NM_024570.4(RNASEH2B):c.822+18T>C
|
|
|
NM_024570.4(RNASEH2B):c.822+8G>A
|
|
|
NM_024570.4(RNASEH2B):c.822+9G>A
|
|
|
NM_024570.4(RNASEH2B):c.823-13T>A
|
|
|
NM_024570.4(RNASEH2B):c.823-13T>C
|
|
|
NM_024570.4(RNASEH2B):c.823-17C>T
|
rs773982703
|
|
NM_024570.4(RNASEH2B):c.823-18T>G
|
|
|
NM_024570.4(RNASEH2B):c.823-18_823-15del
|
|
|
NM_024570.4(RNASEH2B):c.823-19C>G
|
|
|
NM_024570.4(RNASEH2B):c.823-5A>G
|
|
|
NM_024570.4(RNASEH2B):c.823-6del
|
|
|
NM_024570.4(RNASEH2B):c.823-9C>A
|
|
|
NM_024570.4(RNASEH2B):c.831C>T (p.Ser277=)
|
rs2138027156
|
|
NM_024570.4(RNASEH2B):c.840T>G (p.Thr280=)
|
|
|
NM_024570.4(RNASEH2B):c.843A>C (p.Ala281=)
|
|
|
NM_024570.4(RNASEH2B):c.856T>C (p.Leu286=)
|
|
|
NM_024570.4(RNASEH2B):c.858G>A (p.Leu286=)
|
|
|
NM_024570.4(RNASEH2B):c.867T>A (p.Val289=)
|
|
|
NM_024570.4(RNASEH2B):c.870C>T (p.Asp290=)
|
|
|
NM_024570.4(RNASEH2B):c.925dup (p.Ile309fs)
|
rs75254367
|
|
NM_024570.4(RNASEH2B):c.96A>G (p.Lys32=)
|
|
|
NM_024570.4(RNASEH2B):c.9T>G (p.Ala3=)
|
|
|
NM_024753.5(TTC21B):c.114C>G (p.Val38=)
|
rs34486024
|
|
NM_024753.5(TTC21B):c.2569-10dup
|
rs144600502
|
|
NM_024753.5(TTC21B):c.3519T>G (p.Thr1173=)
|
rs115504901
|
|
NM_030777.4(SLC2A10):c.*1141G>A
|
rs571798872
|
|
NM_030777.4(SLC2A10):c.*2150C>A
|
rs6012025
|
|
NM_030777.4(SLC2A10):c.1023C>T (p.Leu341=)
|
|
|
NM_030777.4(SLC2A10):c.1057C>G (p.Leu353Val)
|
rs200196034
|
|
NM_030777.4(SLC2A10):c.1134C>T (p.Pro378=)
|
rs892020307
|
|
NM_030777.4(SLC2A10):c.114T>G (p.Leu38=)
|
rs2123042176
|
|
NM_030777.4(SLC2A10):c.1185C>T (p.Leu395=)
|
rs371752807
|
|
NM_030777.4(SLC2A10):c.1203C>A (p.Pro401=)
|
|
|
NM_030777.4(SLC2A10):c.1212G>A (p.Gly404=)
|
|
|
NM_030777.4(SLC2A10):c.1219C>T (p.Leu407=)
|
rs1194888660
|
|
NM_030777.4(SLC2A10):c.1239G>A (p.Leu413=)
|
rs2123051382
|
|
NM_030777.4(SLC2A10):c.1248G>C (p.Leu416=)
|
|
|
NM_030777.4(SLC2A10):c.1288+19C>T
|
|
|
NM_030777.4(SLC2A10):c.1288+20A>G
|
|
|
NM_030777.4(SLC2A10):c.1288+9A>C
|
|
|
NM_030777.4(SLC2A10):c.1289-18C>G
|
|
|
NM_030777.4(SLC2A10):c.12C>A (p.Ser4=)
|
|
|
NM_030777.4(SLC2A10):c.1305C>A (p.Leu435=)
|
rs201159437
|
|
NM_030777.4(SLC2A10):c.1326G>A (p.Glu442=)
|
rs2123053808
|
|
NM_030777.4(SLC2A10):c.1338A>G (p.Arg446=)
|
|
|
NM_030777.4(SLC2A10):c.1401C>A (p.Leu467=)
|
|
|
NM_030777.4(SLC2A10):c.1411+16A>G
|
|
|
NM_030777.4(SLC2A10):c.1440G>T (p.Leu480=)
|
|
|
NM_030777.4(SLC2A10):c.1443C>G (p.Leu481=)
|
rs1168833604
|
|
NM_030777.4(SLC2A10):c.144G>A (p.Glu48=)
|
rs375145963
|
|
NM_030777.4(SLC2A10):c.1513T>C (p.Leu505=)
|
|
|
NM_030777.4(SLC2A10):c.153G>A (p.Val51=)
|
|
|
NM_030777.4(SLC2A10):c.1547+14del
|
|
|
NM_030777.4(SLC2A10):c.1547+16G>A
|
rs765696201
|
|
NM_030777.4(SLC2A10):c.1547+16G>C
|
|
|
NM_030777.4(SLC2A10):c.1547+17dup
|
|
|
NM_030777.4(SLC2A10):c.1548-9G>C
|
|
|
NM_030777.4(SLC2A10):c.1560C>T (p.Ser520=)
|
|
|
NM_030777.4(SLC2A10):c.1611C>A (p.Ile537=)
|
rs1060502314
|
|
NM_030777.4(SLC2A10):c.1611C>T (p.Ile537=)
|
|
|
NM_030777.4(SLC2A10):c.183C>G (p.Ala61=)
|
|
|
NM_030777.4(SLC2A10):c.186C>T (p.Ser62=)
|
|
|
NM_030777.4(SLC2A10):c.18T>C (p.Pro6=)
|
rs1414654111
|
|
NM_030777.4(SLC2A10):c.192T>G (p.Val64=)
|
|
|
NM_030777.4(SLC2A10):c.219C>T (p.Gly73=)
|
|
|
NM_030777.4(SLC2A10):c.231C>T (p.Ala77=)
|
|
|
NM_030777.4(SLC2A10):c.237C>T (p.Leu79=)
|
rs201323237
|
|
NM_030777.4(SLC2A10):c.246C>T (p.Asn82=)
|
|
|
NM_030777.4(SLC2A10):c.252G>C (p.Val84=)
|
|
|
NM_030777.4(SLC2A10):c.267C>T (p.Ser89=)
|
rs747559824
|
|
NM_030777.4(SLC2A10):c.273C>G (p.Thr91=)
|
|
|
NM_030777.4(SLC2A10):c.292C>T (p.Leu98=)
|
|
|
NM_030777.4(SLC2A10):c.303G>T (p.Leu101=)
|
rs527497095
|
|
NM_030777.4(SLC2A10):c.30G>A (p.Leu10=)
|
|
|
NM_030777.4(SLC2A10):c.316G>A (p.Ala106Thr)
|
rs6094438
|
|
NM_030777.4(SLC2A10):c.333C>T (p.Ala111=)
|
|
|
NM_030777.4(SLC2A10):c.354T>G (p.Ala118=)
|
rs2123044063
|
|
NM_030777.4(SLC2A10):c.4+10G>A
|
rs1978796306
|
|
NM_030777.4(SLC2A10):c.4+14G>C
|
|
|
NM_030777.4(SLC2A10):c.4+14G>T
|
|
|
NM_030777.4(SLC2A10):c.4+9C>G
|
rs1057521373
|
|
NM_030777.4(SLC2A10):c.411C>T (p.Ser137=)
|
rs1979846423
|
|
NM_030777.4(SLC2A10):c.432C>A (p.Thr144=)
|
|
|
NM_030777.4(SLC2A10):c.5-18C>T
|
rs1600666278
|
|
NM_030777.4(SLC2A10):c.5-7T>G
|
|
|
NM_030777.4(SLC2A10):c.5-9_5-6del
|
rs2123041402
|
|
NM_030777.4(SLC2A10):c.5-9_5-7del
|
rs1600666288
|
|
NM_030777.4(SLC2A10):c.504C>A (p.Phe168Leu)
|
rs540023880
|
|
NM_030777.4(SLC2A10):c.504C>T (p.Phe168=)
|
rs540023880
|
|
NM_030777.4(SLC2A10):c.51G>T (p.Leu17=)
|
|
|
NM_030777.4(SLC2A10):c.54T>A (p.Gly18=)
|
|
|
NM_030777.4(SLC2A10):c.579A>G (p.Ala193=)
|
|
|
NM_030777.4(SLC2A10):c.609A>G (p.Gly203=)
|
|
|
NM_030777.4(SLC2A10):c.615G>A (p.Glu205=)
|
rs2123046162
|
|
NM_030777.4(SLC2A10):c.621C>G (p.Pro207=)
|
rs1222577461
|
|
NM_030777.4(SLC2A10):c.625C>T (p.Leu209=)
|
rs748662135
|
|
NM_030777.4(SLC2A10):c.639G>A (p.Arg213=)
|
|
|
NM_030777.4(SLC2A10):c.645G>C (p.Arg215=)
|
rs367742782
|
|
NM_030777.4(SLC2A10):c.675C>T (p.Arg225=)
|
|
|
NM_030777.4(SLC2A10):c.699A>C (p.Thr233=)
|
|
|
NM_030777.4(SLC2A10):c.699A>G (p.Thr233=)
|
|
|
NM_030777.4(SLC2A10):c.801C>T (p.Ser267=)
|
|
|
NM_030777.4(SLC2A10):c.816C>A (p.Ala272=)
|
|
|
NM_030777.4(SLC2A10):c.816C>T (p.Ala272=)
|
rs148058006
|
|
NM_030777.4(SLC2A10):c.831C>A (p.Gly277=)
|
rs142697617
|
|
NM_030777.4(SLC2A10):c.831C>T (p.Gly277=)
|
rs142697617
|
|
NM_030777.4(SLC2A10):c.897G>A (p.Leu299=)
|
rs1979908015
|
|
NM_030777.4(SLC2A10):c.897G>C (p.Leu299=)
|
|
|
NM_030777.4(SLC2A10):c.930C>T (p.Ser310=)
|
|
|
NM_031229.4(RBCK1):c.1006C>T (p.Leu336=)
|
rs2122282595
|
|
NM_031229.4(RBCK1):c.1009C>T (p.Leu337=)
|
rs2122282623
|
|
NM_031229.4(RBCK1):c.100C>T (p.Leu34=)
|
rs1440300058
|
|
NM_031229.4(RBCK1):c.1017G>A (p.Arg339=)
|
rs2122282701
|
|
NM_031229.4(RBCK1):c.1029+7C>T
|
rs2122282889
|
|
NM_031229.4(RBCK1):c.1029+8C>T
|
|
|
NM_031229.4(RBCK1):c.1030-12G>A
|
|
|
NM_031229.4(RBCK1):c.1030-16C>T
|
|
|
NM_031229.4(RBCK1):c.1044G>A (p.Glu348=)
|
rs2122324309
|
|
NM_031229.4(RBCK1):c.1065C>T (p.Asp355=)
|
|
|
NM_031229.4(RBCK1):c.1068G>C (p.Leu356=)
|
|
|
NM_031229.4(RBCK1):c.1119C>A (p.Thr373=)
|
|
|
NM_031229.4(RBCK1):c.1149G>A (p.Glu383=)
|
|
|
NM_031229.4(RBCK1):c.1170C>G (p.Thr390=)
|
|
|
NM_031229.4(RBCK1):c.1176T>C (p.Pro392=)
|
|
|
NM_031229.4(RBCK1):c.1188C>T (p.His396=)
|
rs766618284
|
|
NM_031229.4(RBCK1):c.1206C>T (p.Cys402=)
|
|
|
NM_031229.4(RBCK1):c.1209+11C>G
|
|
|
NM_031229.4(RBCK1):c.1209+8C>T
|
|
|
NM_031229.4(RBCK1):c.1210-19A>G
|
|
|
NM_031229.4(RBCK1):c.1210-7G>A
|
|
|
NM_031229.4(RBCK1):c.1210-8C>T
|
|
|
NM_031229.4(RBCK1):c.1221G>A (p.Glu407=)
|
rs2122333198
|
|
NM_031229.4(RBCK1):c.1239G>A (p.Glu413=)
|
|
|
NM_031229.4(RBCK1):c.12G>A (p.Lys4=)
|
|
|
NM_031229.4(RBCK1):c.1305G>A (p.Leu435=)
|
|
|
NM_031229.4(RBCK1):c.1308+12A>G
|
|
|
NM_031229.4(RBCK1):c.1308+13C>T
|
|
|
NM_031229.4(RBCK1):c.1308+7C>T
|
rs2122334650
|
|
NM_031229.4(RBCK1):c.1309-14C>G
|
|
|
NM_031229.4(RBCK1):c.132A>G (p.Gln44=)
|
rs145132343
|
|
NM_031229.4(RBCK1):c.1332C>G (p.Ala444=)
|
|
|
NM_031229.4(RBCK1):c.1344C>T (p.Pro448=)
|
rs756825937
|
|
NM_031229.4(RBCK1):c.1377C>T (p.Gly459=)
|
rs2122338340
|
|
NM_031229.4(RBCK1):c.1383C>T (p.Asp461=)
|
|
|
NM_031229.4(RBCK1):c.1410C>A (p.Thr470=)
|
|
|
NM_031229.4(RBCK1):c.141T>C (p.Pro47=)
|
|
|
NM_031229.4(RBCK1):c.1431G>A (p.Lys477=)
|
rs2122338869
|
|
NM_031229.4(RBCK1):c.1434C>T (p.Gly478=)
|
rs767016233
|
|
NM_031229.4(RBCK1):c.1452+15G>T
|
|
|
NM_031229.4(RBCK1):c.1473G>C (p.Gly491=)
|
|
|
NM_031229.4(RBCK1):c.1482C>T (p.Arg494=)
|
|
|
NM_031229.4(RBCK1):c.1488G>A (p.Arg496=)
|
rs2122349257
|
|
NM_031229.4(RBCK1):c.1530C>T (p.His510=)
|
rs1002077278
|
|
NM_031229.4(RBCK1):c.156G>A (p.Thr52=)
|
|
|
NM_031229.4(RBCK1):c.167+10G>A
|
|
|
NM_031229.4(RBCK1):c.167+9T>C
|
|
|
NM_031229.4(RBCK1):c.168-14G>C
|
|
|
NM_031229.4(RBCK1):c.168-20G>A
|
|
|
NM_031229.4(RBCK1):c.169C>T (p.Leu57=)
|
|
|
NM_031229.4(RBCK1):c.186G>A (p.Glu62=)
|
|
|
NM_031229.4(RBCK1):c.22+11G>A
|
|
|
NM_031229.4(RBCK1):c.22+17G>C
|
|
|
NM_031229.4(RBCK1):c.222A>T (p.Thr74=)
|
|
|
NM_031229.4(RBCK1):c.228C>G (p.Arg76=)
|
rs2122225668
|
|
NM_031229.4(RBCK1):c.240A>G (p.Thr80=)
|
|
|
NM_031229.4(RBCK1):c.261+14C>T
|
|
|
NM_031229.4(RBCK1):c.261+15G>A
|
rs11698154
|
|
NM_031229.4(RBCK1):c.261+20G>A
|
|
|
NM_031229.4(RBCK1):c.262-17C>G
|
|
|
NM_031229.4(RBCK1):c.262-6C>A
|
|
|
NM_031229.4(RBCK1):c.330C>T (p.Asp110=)
|
|
|
NM_031229.4(RBCK1):c.348C>G (p.Ser116=)
|
|
|
NM_031229.4(RBCK1):c.354G>A (p.Gly118=)
|
rs560528051
|
|
NM_031229.4(RBCK1):c.366T>C (p.Asn122=)
|
rs2122227710
|
|
NM_031229.4(RBCK1):c.372C>T (p.Asp124=)
|
|
|
NM_031229.4(RBCK1):c.441G>A (p.Arg147=)
|
|
|
NM_031229.4(RBCK1):c.447G>A (p.Leu149=)
|
|
|
NM_031229.4(RBCK1):c.450G>T (p.Arg150=)
|
rs2016096112
|
|
NM_031229.4(RBCK1):c.456G>A (p.Leu152=)
|
|
|
NM_031229.4(RBCK1):c.460+12C>T
|
|
|
NM_031229.4(RBCK1):c.460+13C>T
|
|
|
NM_031229.4(RBCK1):c.460+14_460+47del
|
rs2122228766
|
|
NM_031229.4(RBCK1):c.460+15T>C
|
|
|
NM_031229.4(RBCK1):c.461-12C>G
|
|
|
NM_031229.4(RBCK1):c.461-8C>A
|
|
|
NM_031229.4(RBCK1):c.462T>C (p.Asp154=)
|
|
|
NM_031229.4(RBCK1):c.483G>A (p.Thr161=)
|
|
|
NM_031229.4(RBCK1):c.492G>A (p.Pro164=)
|
rs765582031
|
|
NM_031229.4(RBCK1):c.492G>T (p.Pro164=)
|
|
|
NM_031229.4(RBCK1):c.513C>T (p.Gly171=)
|
rs777854248
|
|
NM_031229.4(RBCK1):c.516C>T (p.Pro172=)
|
|
|
NM_031229.4(RBCK1):c.525C>T (p.Pro175=)
|
|
|
NM_031229.4(RBCK1):c.528G>T (p.Gly176=)
|
|
|
NM_031229.4(RBCK1):c.531C>A (p.Val177=)
|
|
|
NM_031229.4(RBCK1):c.531C>G (p.Val177=)
|
rs375018967
|
|
NM_031229.4(RBCK1):c.543C>T (p.Pro181=)
|
rs377036635
|
|
NM_031229.4(RBCK1):c.549G>C (p.Arg183=)
|
rs1029755805
|
|
NM_031229.4(RBCK1):c.549G>T (p.Arg183=)
|
rs1029755805
|
|
NM_031229.4(RBCK1):c.570T>G (p.Pro190=)
|
|
|
NM_031229.4(RBCK1):c.582+17C>T
|
|
|
NM_031229.4(RBCK1):c.582+9_582+15dup
|
|
|
NM_031229.4(RBCK1):c.594G>A (p.Gln198=)
|
|
|
NM_031229.4(RBCK1):c.600C>T (p.Pro200=)
|
rs561932073
|
|
NM_031229.4(RBCK1):c.606C>T (p.Cys202=)
|
|
|
NM_031229.4(RBCK1):c.621G>A (p.Lys207=)
|
rs1394794776
|
|
NM_031229.4(RBCK1):c.627G>A (p.Thr209=)
|
|
|
NM_031229.4(RBCK1):c.633T>C (p.Pro211=)
|
|
|
NM_031229.4(RBCK1):c.657G>A (p.Ala219=)
|
|
|
NM_031229.4(RBCK1):c.672C>T (p.Tyr224=)
|
|
|
NM_031229.4(RBCK1):c.687A>G (p.Ser229=)
|
rs2122245613
|
|
NM_031229.4(RBCK1):c.696C>A (p.Pro232=)
|
|
|
NM_031229.4(RBCK1):c.696C>G (p.Pro232=)
|
rs549369680
|
|
NM_031229.4(RBCK1):c.709C>A (p.Arg237=)
|
|
|
NM_031229.4(RBCK1):c.714G>A (p.Ala238=)
|
|
|
NM_031229.4(RBCK1):c.714G>T (p.Ala238=)
|
|
|
NM_031229.4(RBCK1):c.717C>T (p.Arg239=)
|
|
|
NM_031229.4(RBCK1):c.720G>A (p.Leu240=)
|
|
|
NM_031229.4(RBCK1):c.723G>A (p.Ala241=)
|
rs762123098
|
|
NM_031229.4(RBCK1):c.744T>A (p.Arg248=)
|
|
|
NM_031229.4(RBCK1):c.756+10A>G
|
|
|
NM_031229.4(RBCK1):c.757-11C>T
|
|
|
NM_031229.4(RBCK1):c.757-13C>T
|
|
|
NM_031229.4(RBCK1):c.757-16C>T
|
|
|
NM_031229.4(RBCK1):c.757-20G>A
|
|
|
NM_031229.4(RBCK1):c.757-20_757-8del
|
rs746640446
|
|
NM_031229.4(RBCK1):c.757-4C>T
|
|
|
NM_031229.4(RBCK1):c.757-7T>C
|
|
|
NM_031229.4(RBCK1):c.831G>A (p.Thr277=)
|
|
|
NM_031229.4(RBCK1):c.837C>T (p.Pro279=)
|
rs1433038293
|
|
NM_031229.4(RBCK1):c.840C>T (p.Ala280=)
|
|
|
NM_031229.4(RBCK1):c.867G>A (p.Leu289=)
|
|
|
NM_031229.4(RBCK1):c.873C>A (p.Pro291=)
|
|
|
NM_031229.4(RBCK1):c.882C>A (p.Ala294=)
|
|
|
NM_031229.4(RBCK1):c.891G>A (p.Leu297=)
|
|
|
NM_031229.4(RBCK1):c.900T>C (p.Cys300=)
|
|
|
NM_031229.4(RBCK1):c.903G>T (p.Leu301=)
|
rs1228337215
|
|
NM_031229.4(RBCK1):c.909C>T (p.Thr303=)
|
|
|
NM_031229.4(RBCK1):c.917+12A>G
|
|
|
NM_031229.4(RBCK1):c.917+17C>T
|
|
|
NM_031229.4(RBCK1):c.917+19C>A
|
|
|
NM_031229.4(RBCK1):c.917+19C>G
|
|
|
NM_031229.4(RBCK1):c.918-14C>T
|
|
|
NM_031229.4(RBCK1):c.918-16C>G
|
|
|
NM_031229.4(RBCK1):c.918-18T>G
|
|
|
NM_031229.4(RBCK1):c.918-19_918-18del
|
rs1440664609
|
|
NM_031229.4(RBCK1):c.918-7C>G
|
|
|
NM_031229.4(RBCK1):c.927G>A (p.Leu309=)
|
|
|
NM_031229.4(RBCK1):c.933C>T (p.Gly311=)
|
rs2016473810
|
|
NM_031229.4(RBCK1):c.936C>T (p.Thr312=)
|
|
|
NM_031229.4(RBCK1):c.942C>T (p.Arg314=)
|
|
|
NM_031229.4(RBCK1):c.948C>T (p.Ser316=)
|
|
|
NM_031229.4(RBCK1):c.981C>T (p.Asp327=)
|
rs2122282048
|
|
NM_031229.4(RBCK1):c.993G>T (p.Ser331=)
|
rs750664557
|
|
NM_031229.4(RBCK1):c.996C>T (p.Cys332=)
|
|
|
NM_031229.4(RBCK1):c.999G>A (p.Ser333=)
|
rs146181107
|
|
NM_032193.3(RNASEH2C):c.-157C>A
|
rs535406222
|
|
NM_032193.4(RNASEH2C):c.*310C>T
|
rs190723966
|
|
NM_032193.4(RNASEH2C):c.*948dup
|
rs142614068
|
|
NM_032193.4(RNASEH2C):c.102C>T (p.Cys34=)
|
|
|
NM_032193.4(RNASEH2C):c.117C>T (p.Asp39=)
|
rs2135654177
|
|
NM_032193.4(RNASEH2C):c.120G>T (p.Gly40=)
|
|
|
NM_032193.4(RNASEH2C):c.126C>G (p.Ala42=)
|
|
|
NM_032193.4(RNASEH2C):c.129G>A (p.Pro43=)
|
|
|
NM_032193.4(RNASEH2C):c.12C>G (p.Gly4=)
|
rs1857363592
|
|
NM_032193.4(RNASEH2C):c.12C>T (p.Gly4=)
|
|
|
NM_032193.4(RNASEH2C):c.138C>T (p.Arg46=)
|
|
|
NM_032193.4(RNASEH2C):c.141C>T (p.Phe47=)
|
rs1857359996
|
|
NM_032193.4(RNASEH2C):c.147G>T (p.Thr49=)
|
|
|
NM_032193.4(RNASEH2C):c.150C>T (p.Pro50=)
|
|
|
NM_032193.4(RNASEH2C):c.156C>T (p.Ile52=)
|
|
|
NM_032193.4(RNASEH2C):c.159C>T (p.Arg53=)
|
rs2135654018
|
|
NM_032193.4(RNASEH2C):c.15C>T (p.Asp5=)
|
|
|
NM_032193.4(RNASEH2C):c.165C>T (p.Gly55=)
|
|
|
NM_032193.4(RNASEH2C):c.168C>G (p.Pro56=)
|
|
|
NM_032193.4(RNASEH2C):c.172+13G>T
|
|
|
NM_032193.4(RNASEH2C):c.172+14C>A
|
rs1027275130
|
|
NM_032193.4(RNASEH2C):c.172+15C>T
|
rs2135653906
|
|
NM_032193.4(RNASEH2C):c.172+19C>T
|
|
|
NM_032193.4(RNASEH2C):c.172+7C>T
|
|
|
NM_032193.4(RNASEH2C):c.172+8C>T
|
|
|
NM_032193.4(RNASEH2C):c.173-12C>T
|
|
|
NM_032193.4(RNASEH2C):c.173-13C>T
|
rs764665591
|
|
NM_032193.4(RNASEH2C):c.173-15C>T
|
|
|
NM_032193.4(RNASEH2C):c.173-4C>T
|
|
|
NM_032193.4(RNASEH2C):c.174A>C (p.Gly58=)
|
|
|
NM_032193.4(RNASEH2C):c.174A>T (p.Gly58=)
|
|
|
NM_032193.4(RNASEH2C):c.186G>A (p.Ser62=)
|
|
|
NM_032193.4(RNASEH2C):c.192G>A (p.Arg64=)
|
|
|
NM_032193.4(RNASEH2C):c.192G>C (p.Arg64=)
|
|
|
NM_032193.4(RNASEH2C):c.192G>T (p.Arg64=)
|
|
|
NM_032193.4(RNASEH2C):c.213G>A (p.Glu71=)
|
|
|
NM_032193.4(RNASEH2C):c.216G>A (p.Glu72=)
|
|
|
NM_032193.4(RNASEH2C):c.21G>A (p.Ala7=)
|
|
|
NM_032193.4(RNASEH2C):c.222G>A (p.Ala74=)
|
rs1365307674
|
|
NM_032193.4(RNASEH2C):c.222G>T (p.Ala74=)
|
|
|
NM_032193.4(RNASEH2C):c.237C>G (p.Leu79=)
|
|
|
NM_032193.4(RNASEH2C):c.243A>T (p.Gly81=)
|
rs2135653152
|
|
NM_032193.4(RNASEH2C):c.246C>T (p.Tyr82=)
|
|
|
NM_032193.4(RNASEH2C):c.24C>T (p.Ala8=)
|
|
|
NM_032193.4(RNASEH2C):c.255G>A (p.Val85=)
|
|
|
NM_032193.4(RNASEH2C):c.258A>G (p.Thr86=)
|
|
|
NM_032193.4(RNASEH2C):c.258A>T (p.Thr86=)
|
rs2135653109
|
|
NM_032193.4(RNASEH2C):c.261A>G (p.Glu87=)
|
rs1857351791
|
|
NM_032193.4(RNASEH2C):c.265AAG[1] (p.Lys90del)
|
rs141875736
|
|
NM_032193.4(RNASEH2C):c.267G>A (p.Lys89=)
|
|
|
NM_032193.4(RNASEH2C):c.27C>T (p.Ile9=)
|
|
|
NM_032193.4(RNASEH2C):c.294C>T (p.Pro98=)
|
|
|
NM_032193.4(RNASEH2C):c.295T>C (p.Leu99=)
|
|
|
NM_032193.4(RNASEH2C):c.306C>T (p.Ser102=)
|
|
|
NM_032193.4(RNASEH2C):c.309G>A (p.Gly103=)
|
|
|
NM_032193.4(RNASEH2C):c.309G>C (p.Gly103=)
|
|
|
NM_032193.4(RNASEH2C):c.315C>T (p.Asp105=)
|
|
|
NM_032193.4(RNASEH2C):c.324G>A (p.Glu108=)
|
|
|
NM_032193.4(RNASEH2C):c.333G>A (p.Pro111=)
|
|
|
NM_032193.4(RNASEH2C):c.334C>T (p.Leu112=)
|
|
|
NM_032193.4(RNASEH2C):c.33G>A (p.Arg11=)
|
rs2135654495
|
|
NM_032193.4(RNASEH2C):c.340C>A (p.Arg114=)
|
|
|
NM_032193.4(RNASEH2C):c.342G>A (p.Arg114=)
|
|
|
NM_032193.4(RNASEH2C):c.348+10G>A
|
rs2135652770
|
|
NM_032193.4(RNASEH2C):c.348+10G>C
|
|
|
NM_032193.4(RNASEH2C):c.348+11G>A
|
rs376075138
|
|
NM_032193.4(RNASEH2C):c.348+11G>C
|
|
|
NM_032193.4(RNASEH2C):c.348+12G>A
|
|
|
NM_032193.4(RNASEH2C):c.348+12G>C
|
|
|
NM_032193.4(RNASEH2C):c.348+17G>A
|
rs1857349059
|
|
NM_032193.4(RNASEH2C):c.348+17G>C
|
|
|
NM_032193.4(RNASEH2C):c.348+19T>G
|
|
|
NM_032193.4(RNASEH2C):c.348+7A>G
|
|
|
NM_032193.4(RNASEH2C):c.348+7A>T
|
|
|
NM_032193.4(RNASEH2C):c.349-10C>T
|
|
|
NM_032193.4(RNASEH2C):c.349-12C>A
|
|
|
NM_032193.4(RNASEH2C):c.349-12C>T
|
rs368723275
|
|
NM_032193.4(RNASEH2C):c.349-13G>A
|
|
|
NM_032193.4(RNASEH2C):c.349-14G>C
|
|
|
NM_032193.4(RNASEH2C):c.349-18G>A
|
|
|
NM_032193.4(RNASEH2C):c.349-8T>G
|
|
|
NM_032193.4(RNASEH2C):c.349-9C>G
|
rs535966679
|
|
NM_032193.4(RNASEH2C):c.349-9C>T
|
rs535966679
|
|
NM_032193.4(RNASEH2C):c.357C>T (p.Phe119=)
|
|
|
NM_032193.4(RNASEH2C):c.369T>C (p.Thr123=)
|
|
|
NM_032193.4(RNASEH2C):c.36C>T (p.His12=)
|
|
|
NM_032193.4(RNASEH2C):c.372C>G (p.Ala124=)
|
rs1857346736
|
|
NM_032193.4(RNASEH2C):c.381C>T (p.Ser127=)
|
|
|
NM_032193.4(RNASEH2C):c.391C>T (p.Leu131=)
|
rs1393994911
|
|
NM_032193.4(RNASEH2C):c.393G>T (p.Leu131=)
|
|
|
NM_032193.4(RNASEH2C):c.39C>G (p.Arg13=)
|
|
|
NM_032193.4(RNASEH2C):c.402G>A (p.Leu134=)
|
|
|
NM_032193.4(RNASEH2C):c.405G>A (p.Glu135=)
|
|
|
NM_032193.4(RNASEH2C):c.420G>T (p.Pro140=)
|
|
|
NM_032193.4(RNASEH2C):c.426C>T (p.Ala142=)
|
rs753557040
|
|
NM_032193.4(RNASEH2C):c.435T>C (p.Arg145=)
|
|
|
NM_032193.4(RNASEH2C):c.438G>A (p.Gly146=)
|
|
|
NM_032193.4(RNASEH2C):c.441C>G (p.Ala147=)
|
rs1857344657
|
|
NM_032193.4(RNASEH2C):c.447T>C (p.Thr149=)
|
|
|
NM_032193.4(RNASEH2C):c.468+10C>G
|
|
|
NM_032193.4(RNASEH2C):c.468+11G>A
|
|
|
NM_032193.4(RNASEH2C):c.468+12_468+13del
|
rs765857630
|
|
NM_032193.4(RNASEH2C):c.468+13G>C
|
rs182000627
|
|
NM_032193.4(RNASEH2C):c.468+14G>A
|
rs759952065
|
|
NM_032193.4(RNASEH2C):c.468+14G>T
|
|
|
NM_032193.4(RNASEH2C):c.468+15_468+22del
|
|
|
NM_032193.4(RNASEH2C):c.468+20C>T
|
|
|
NM_032193.4(RNASEH2C):c.468+20del
|
|
|
NM_032193.4(RNASEH2C):c.468+7A>G
|
|
|
NM_032193.4(RNASEH2C):c.468+8G>A
|
rs751767695
|
|
NM_032193.4(RNASEH2C):c.468+8G>C
|
rs751767695
|
|
NM_032193.4(RNASEH2C):c.469-11T>G
|
|
|
NM_032193.4(RNASEH2C):c.469-12C>A
|
rs764404552
|
|
NM_032193.4(RNASEH2C):c.469-12C>G
|
rs764404552
|
|
NM_032193.4(RNASEH2C):c.469-14G>T
|
|
|
NM_032193.4(RNASEH2C):c.469-15C>T
|
|
|
NM_032193.4(RNASEH2C):c.469-17G>A
|
|
|
NM_032193.4(RNASEH2C):c.469-19G>A
|
rs2135651382
|
|
NM_032193.4(RNASEH2C):c.469-7G>T
|
rs1857335838
|
|
NM_032193.4(RNASEH2C):c.469-9C>G
|
|
|
NM_032193.4(RNASEH2C):c.469-9C>T
|
|
|
NM_032193.4(RNASEH2C):c.46T>C (p.Leu16=)
|
rs2135654441
|
|
NM_032193.4(RNASEH2C):c.474C>T (p.His158=)
|
|
|
NM_032193.4(RNASEH2C):c.483G>A (p.Val161=)
|
|
|
NM_032193.4(RNASEH2C):c.486C>T (p.Pro162=)
|
|
|
NM_032193.4(RNASEH2C):c.51C>A (p.Arg17=)
|
|
|
NM_032193.4(RNASEH2C):c.57C>A (p.Ala19=)
|
|
|
NM_032193.4(RNASEH2C):c.60A>G (p.Thr20=)
|
|
|
NM_032193.4(RNASEH2C):c.66C>T (p.Arg22=)
|
rs2135654352
|
|
NM_032193.4(RNASEH2C):c.6G>A (p.Glu2=)
|
|
|
NM_032193.4(RNASEH2C):c.72C>A (p.Ala24=)
|
|
|
NM_032193.4(RNASEH2C):c.75A>G (p.Val25=)
|
|
|
NM_032193.4(RNASEH2C):c.78C>G (p.Pro26=)
|
|
|
NM_032193.4(RNASEH2C):c.85C>T (p.Leu29=)
|
rs781290873
|
|
NM_032193.4(RNASEH2C):c.94C>T (p.Leu32=)
|
|
|
NM_032193.4(RNASEH2C):c.96G>T (p.Leu32=)
|
|
|
NM_032193.4(RNASEH2C):c.9C>T (p.Ser3=)
|
|
|
NM_033629.6(TREX1):c.102G>A (p.Leu34=)
|
|
|
NM_033629.6(TREX1):c.132G>C (p.Leu44=)
|
rs2107255846
|
|
NM_033629.6(TREX1):c.144C>A (p.Pro48=)
|
rs781060789
|
|
NM_033629.6(TREX1):c.144C>G (p.Pro48=)
|
rs781060789
|
|
NM_033629.6(TREX1):c.144C>T (p.Pro48=)
|
rs781060789
|
|
NM_033629.6(TREX1):c.15C>T (p.Ala5=)
|
|
|
NM_033629.6(TREX1):c.165C>T (p.Pro55=)
|
|
|
NM_033629.6(TREX1):c.168A>C (p.Thr56=)
|
rs770441459
|
|
NM_033629.6(TREX1):c.18G>C (p.Leu6=)
|
|
|
NM_033629.6(TREX1):c.192A>C (p.Val64=)
|
rs2107256574
|
|
NM_033629.6(TREX1):c.207G>T (p.Leu69=)
|
|
|
NM_033629.6(TREX1):c.213G>A (p.Val71=)
|
|
|
NM_033629.6(TREX1):c.216T>A (p.Ala72=)
|
|
|
NM_033629.6(TREX1):c.21C>A (p.Pro7=)
|
|
|
NM_033629.6(TREX1):c.21C>T (p.Pro7=)
|
rs761094995
|
|
NM_033629.6(TREX1):c.246C>T (p.Ser82=)
|
|
|
NM_033629.6(TREX1):c.249G>A (p.Glu83=)
|
|
|
NM_033629.6(TREX1):c.258T>C (p.Gly86=)
|
|
|
NM_033629.6(TREX1):c.27G>T (p.Gly9=)
|
rs908382062
|
|
NM_033629.6(TREX1):c.306C>T (p.Asp102=)
|
|
|
NM_033629.6(TREX1):c.30C>G (p.Pro10=)
|
|
|
NM_033629.6(TREX1):c.30C>T (p.Pro10=)
|
rs560658691
|
|
NM_033629.6(TREX1):c.321G>A (p.Leu107=)
|
rs771553021
|
|
NM_033629.6(TREX1):c.324C>T (p.Leu108=)
|
|
|
NM_033629.6(TREX1):c.334C>T (p.Leu112=)
|
|
|
NM_033629.6(TREX1):c.360C>T (p.Cys120=)
|
rs1436644080
|
|
NM_033629.6(TREX1):c.369A>G (p.Ala123=)
|
|
|
NM_033629.6(TREX1):c.375T>C (p.Asn125=)
|
|
|
NM_033629.6(TREX1):c.378T>C (p.Gly126=)
|
|
|
NM_033629.6(TREX1):c.393C>T (p.Phe131=)
|
rs749667732
|
|
NM_033629.6(TREX1):c.394C>G (p.Pro132Ala)
|
rs200510205
|
|
NM_033629.6(TREX1):c.405A>G (p.Gln135=)
|
|
|
NM_033629.6(TREX1):c.408A>G (p.Ala136=)
|
|
|
NM_033629.6(TREX1):c.450C>G (p.Ala150=)
|
|
|
NM_033629.6(TREX1):c.465C>T (p.Ser155=)
|
|
|
NM_033629.6(TREX1):c.471T>C (p.Thr157=)
|
|
|
NM_033629.6(TREX1):c.474_475delinsCT (p.Ala158_Leu159=)
|
|
|
NM_033629.6(TREX1):c.484C>T (p.Leu162=)
|
rs1553820257
|
|
NM_033629.6(TREX1):c.495A>C (p.Ala165=)
|
|
|
NM_033629.6(TREX1):c.495A>G (p.Ala165=)
|
|
|
NM_033629.6(TREX1):c.519A>G (p.Pro173=)
|
|
|
NM_033629.6(TREX1):c.51C>T (p.Phe17=)
|
|
|
NM_033629.6(TREX1):c.535C>T (p.Leu179=)
|
rs1575293364
|
|
NM_033629.6(TREX1):c.540C>T (p.Gly180=)
|
rs2040359280
|
|
NM_033629.6(TREX1):c.54C>T (p.Asp18=)
|
|
|
NM_033629.6(TREX1):c.558G>A (p.Leu186=)
|
rs2107261127
|
|
NM_033629.6(TREX1):c.558G>C (p.Leu186=)
|
|
|
NM_033629.6(TREX1):c.591T>C (p.Ala197=)
|
|
|
NM_033629.6(TREX1):c.594G>A (p.Glu198=)
|
rs2040363169
|
|
NM_033629.6(TREX1):c.600T>C (p.Asp200=)
|
|
|
NM_033629.6(TREX1):c.60G>A (p.Glu20=)
|
|
|
NM_033629.6(TREX1):c.615C>T (p.Leu205=)
|
|
|
NM_033629.6(TREX1):c.63C>T (p.Ala21=)
|
|
|
NM_033629.6(TREX1):c.642C>G (p.Ala214=)
|
|
|
NM_033629.6(TREX1):c.645G>A (p.Leu215=)
|
|
|
NM_033629.6(TREX1):c.649C>A (p.Arg217=)
|
|
|
NM_033629.6(TREX1):c.663T>A (p.Ala221=)
|
|
|
NM_033629.6(TREX1):c.663T>G (p.Ala221=)
|
|
|
NM_033629.6(TREX1):c.666C>T (p.His222=)
|
|
|
NM_033629.6(TREX1):c.670A>C (p.Arg224=)
|
|
|
NM_033629.6(TREX1):c.678C>T (p.Phe226=)
|
rs139228069
|
|
NM_033629.6(TREX1):c.69C>T (p.Gly23=)
|
|
|
NM_033629.6(TREX1):c.6C>T (p.Gly2=)
|
|
|
NM_033629.6(TREX1):c.705C>T (p.Val235=)
|
|
|
NM_033629.6(TREX1):c.70T>C (p.Leu24=)
|
|
|
NM_033629.6(TREX1):c.720G>A (p.Arg240=)
|
rs72556555
|
|
NM_033629.6(TREX1):c.726G>A (p.Lys242=)
|
|
|
NM_033629.6(TREX1):c.72G>A (p.Leu24=)
|
|
|
NM_033629.6(TREX1):c.735A>T (p.Pro245=)
|
|
|
NM_033629.6(TREX1):c.753T>G (p.Thr251=)
|
|
|
NM_033629.6(TREX1):c.75C>G (p.Pro25=)
|
|
|
NM_033629.6(TREX1):c.760C>T (p.Leu254=)
|
|
|
NM_033629.6(TREX1):c.783T>C (p.Ser261=)
|
|
|
NM_033629.6(TREX1):c.786C>T (p.Pro262=)
|
|
|
NM_033629.6(TREX1):c.798G>A (p.Glu266=)
|
rs745652233
|
|
NM_033629.6(TREX1):c.849C>T (p.Ser283=)
|
rs776171409
|
|
NM_033629.6(TREX1):c.871C>T (p.Leu291=)
|
|
|
NM_033629.6(TREX1):c.873G>A (p.Leu291=)
|
|
|
NM_033629.6(TREX1):c.873G>C (p.Leu291=)
|
|
|
NM_033629.6(TREX1):c.880C>T (p.Leu294=)
|
|
|
NM_033629.6(TREX1):c.889C>T (p.Leu297=)
|
|
|
NM_033629.6(TREX1):c.909A>G (p.Thr303=)
|
|
|
NM_033629.6(TREX1):c.910C>T (p.Leu304=)
|
|
|
NM_033629.6(TREX1):c.915T>C (p.Tyr305=)
|
|
|
NM_033629.6(TREX1):c.918A>G (p.Gly306=)
|
|
|
NM_033629.6(TREX1):c.921A>G (p.Leu307=)
|
|
|
NM_033629.6(TREX1):c.930C>A (p.Ala310=)
|
|
|
NM_033629.6(TREX1):c.939G>A (p.Gly313=)
|
rs2040393602
|
|
NM_033629.6(TREX1):c.96G>A (p.Thr32=)
|
|
|
NM_053025.4(MYLK):c.1189A>G (p.Lys397Glu)
|
rs1553822326
|
|
NM_053025.4(MYLK):c.1968G>T (p.Trp656Cys)
|
rs138172035
|
|
NM_053025.4(MYLK):c.3652+7A>G
|
rs1553795288
|
|
NM_053025.4(MYLK):c.373+14G>A
|
rs1553833648
|
|
NM_058172.6(ANTXR2):c.*4856C>T
|
rs149098653
|
|
NM_080425.4(GNAS):c.1276G>C (p.Ala426Pro)
|
rs767104257
|
|
NM_080425.4(GNAS):c.1428C>G (p.Ala476=)
|
rs559714658
|
|
NM_080425.4(GNAS):c.628G>C (p.Ala210Pro)
|
rs61749696
|
|
NM_080628.3(TLDC2):c.*230G>C
|
|
|
NM_080628.3(TLDC2):c.*231_*234del
|
rs2148352274
|
|
NM_080628.3(TLDC2):c.*233GA[3]
|
rs774995485
|
|
NM_080628.3(TLDC2):c.*237G>A
|
|
|
NM_080628.3(TLDC2):c.*238A>T
|
rs749714514
|
|
NM_080680.3(COL11A2):c.1359+17del
|
rs765250820
|
|
NM_080680.3(COL11A2):c.1479A>T (p.Gly493=)
|
rs1554221287
|
|
NM_080680.3(COL11A2):c.2220G>A (p.Glu740=)
|
rs202032297
|
|
NM_080680.3(COL11A2):c.3111G>A (p.Pro1037=)
|
rs146093235
|
|
NM_080680.3(COL11A2):c.4750+19G>T
|
rs1046161149
|
|
NM_080680.3(COL11A2):c.4854C>T (p.Asp1618=)
|
rs151319255
|
|
NM_080680.3(COL11A2):c.91C>T (p.Pro31Ser)
|
rs1554226286
|
|
NM_080680.3(COL11A2):c.966C>A (p.Pro322=)
|
rs147527758
|
|
NM_130384.3(ATRIP):c.*272del
|
rs3135939
|
|
NM_144687.4(NLRP12):c.1008A>C (p.Leu336=)
|
|
|
NM_144687.4(NLRP12):c.1027C>A (p.Arg343=)
|
|
|
NM_144687.4(NLRP12):c.105G>A (p.Ala35=)
|
|
|
NM_144687.4(NLRP12):c.1110G>A (p.Arg370=)
|
|
|
NM_144687.4(NLRP12):c.1119C>T (p.Tyr373=)
|
rs2122671492
|
|
NM_144687.4(NLRP12):c.1125C>T (p.Tyr375=)
|
rs1405811775
|
|
NM_144687.4(NLRP12):c.1173G>A (p.Val391=)
|
|
|
NM_144687.4(NLRP12):c.1179C>T (p.Asp393=)
|
|
|
NM_144687.4(NLRP12):c.1206C>T (p.Phe402=)
|
|
|
NM_144687.4(NLRP12):c.1209C>G (p.Val403=)
|
rs1439788634
|
|
NM_144687.4(NLRP12):c.1236C>G (p.Thr412=)
|
|
|
NM_144687.4(NLRP12):c.1267C>T (p.Leu423=)
|
|
|
NM_144687.4(NLRP12):c.1269G>A (p.Leu423=)
|
|
|
NM_144687.4(NLRP12):c.12C>T (p.Thr4=)
|
|
|
NM_144687.4(NLRP12):c.1383G>A (p.Leu461=)
|
|
|
NM_144687.4(NLRP12):c.1390T>C (p.Leu464=)
|
|
|
NM_144687.4(NLRP12):c.1392G>A (p.Leu464=)
|
|
|
NM_144687.4(NLRP12):c.1434G>A (p.Glu478=)
|
|
|
NM_144687.4(NLRP12):c.1461C>T (p.Asp487=)
|
rs555808644
|
|
NM_144687.4(NLRP12):c.1485C>T (p.Leu495=)
|
|
|
NM_144687.4(NLRP12):c.1503G>A (p.Gln501=)
|
|
|
NM_144687.4(NLRP12):c.1524G>A (p.Arg508=)
|
rs764381457
|
|
NM_144687.4(NLRP12):c.1578T>C (p.Tyr526=)
|
|
|
NM_144687.4(NLRP12):c.1581C>T (p.Ile527=)
|
rs540042739
|
|
NM_144687.4(NLRP12):c.1590G>A (p.Glu530=)
|
|
|
NM_144687.4(NLRP12):c.1632G>A (p.Leu544=)
|
rs1233156862
|
|
NM_144687.4(NLRP12):c.1638C>A (p.Thr546=)
|
rs762831332
|
|
NM_144687.4(NLRP12):c.1647G>C (p.Ala549=)
|
|
|
NM_144687.4(NLRP12):c.1725G>A (p.Leu575=)
|
rs112779811
|
|
NM_144687.4(NLRP12):c.1728G>A (p.Glu576=)
|
rs1235883722
|
|
NM_144687.4(NLRP12):c.1755G>A (p.Pro585=)
|
rs773652106
|
|
NM_144687.4(NLRP12):c.1771C>T (p.Leu591=)
|
rs997190867
|
|
NM_144687.4(NLRP12):c.177G>C (p.Leu59=)
|
rs759015644
|
|
NM_144687.4(NLRP12):c.177G>T (p.Leu59=)
|
|
|
NM_144687.4(NLRP12):c.1803C>T (p.Ser601=)
|
|
|
NM_144687.4(NLRP12):c.1809C>T (p.Gly603=)
|
rs2092031971
|
|
NM_144687.4(NLRP12):c.180C>T (p.Leu60=)
|
|
|
NM_144687.4(NLRP12):c.1830C>T (p.Ser610=)
|
rs751377595
|
|
NM_144687.4(NLRP12):c.1833G>A (p.Leu611=)
|
|
|
NM_144687.4(NLRP12):c.1854C>T (p.Tyr618=)
|
rs142487599
|
|
NM_144687.4(NLRP12):c.186C>G (p.Thr62=)
|
rs2122811929
|
|
NM_144687.4(NLRP12):c.1887C>A (p.Ala629=)
|
rs1048970874
|
|
NM_144687.4(NLRP12):c.189C>T (p.His63=)
|
rs2122811865
|
|
NM_144687.4(NLRP12):c.1908C>A (p.Ile636=)
|
rs1454297839
|
|
NM_144687.4(NLRP12):c.1926C>T (p.Ala642=)
|
rs1600706724
|
|
NM_144687.4(NLRP12):c.1953G>A (p.Ser651=)
|
rs771048449
|
|
NM_144687.4(NLRP12):c.1953G>C (p.Ser651=)
|
|
|
NM_144687.4(NLRP12):c.1953G>T (p.Ser651=)
|
|
|
NM_144687.4(NLRP12):c.1980C>T (p.Ala660=)
|
|
|
NM_144687.4(NLRP12):c.1992C>T (p.His664=)
|
rs377549646
|
|
NM_144687.4(NLRP12):c.2001C>T (p.Gly667=)
|
|
|
NM_144687.4(NLRP12):c.2010C>T (p.Tyr670=)
|
rs2122655928
|
|
NM_144687.4(NLRP12):c.2016G>C (p.Ala672=)
|
rs763465849
|
|
NM_144687.4(NLRP12):c.2022G>A (p.Gly674=)
|
|
|
NM_144687.4(NLRP12):c.2034G>A (p.Ala678=)
|
|
|
NM_144687.4(NLRP12):c.2046A>G (p.Ala682=)
|
rs886054608
|
|
NM_144687.4(NLRP12):c.2052G>C (p.Ala684=)
|
|
|
NM_144687.4(NLRP12):c.2055C>T (p.His685=)
|
rs374387350
|
|
NM_144687.4(NLRP12):c.2072+12T>G
|
|
|
NM_144687.4(NLRP12):c.2072+17_2072+28del
|
|
|
NM_144687.4(NLRP12):c.2072+19T>C
|
rs947928463
|
|
NM_144687.4(NLRP12):c.2072+20C>G
|
|
|
NM_144687.4(NLRP12):c.2072+20C>T
|
|
|
NM_144687.4(NLRP12):c.2073-12T>C
|
|
|
NM_144687.4(NLRP12):c.2073-7C>T
|
rs1356017736
|
|
NM_144687.4(NLRP12):c.2079G>A (p.Glu693=)
|
rs2122637030
|
|
NM_144687.4(NLRP12):c.2085C>T (p.Thr695=)
|
|
|
NM_144687.4(NLRP12):c.2103C>T (p.Tyr701=)
|
|
|
NM_144687.4(NLRP12):c.2139A>G (p.Pro713=)
|
|
|
NM_144687.4(NLRP12):c.2154G>A (p.Leu718=)
|
|
|
NM_144687.4(NLRP12):c.2160G>A (p.Leu720=)
|
|
|
NM_144687.4(NLRP12):c.2172C>G (p.Ala724=)
|
|
|
NM_144687.4(NLRP12):c.2182C>T (p.Arg728Trp)
|
rs764354581
|
|
NM_144687.4(NLRP12):c.2184G>A (p.Arg728=)
|
rs1187613511
|
|
NM_144687.4(NLRP12):c.2185G>A (p.Gly729Arg)
|
rs139938997
|
|
NM_144687.4(NLRP12):c.2185G>C (p.Gly729Arg)
|
rs139938997
|
|
NM_144687.4(NLRP12):c.2187G>T (p.Gly729=)
|
rs759367681
|
|
NM_144687.4(NLRP12):c.2199C>G (p.Leu733=)
|
|
|
NM_144687.4(NLRP12):c.21G>A (p.Arg7=)
|
|
|
NM_144687.4(NLRP12):c.2206G>A (p.Gly736Arg)
|
rs554602951
|
|
NM_144687.4(NLRP12):c.2223C>T (p.Asn741=)
|
|
|
NM_144687.4(NLRP12):c.2229A>G (p.Lys743=)
|
|
|
NM_144687.4(NLRP12):c.2243+15G>C
|
|
|
NM_144687.4(NLRP12):c.2243+17C>A
|
|
|
NM_144687.4(NLRP12):c.2243+7G>A
|
|
|
NM_144687.4(NLRP12):c.2244-6C>T
|
|
|
NM_144687.4(NLRP12):c.2244-8C>T
|
|
|
NM_144687.4(NLRP12):c.2271A>C (p.Ser757=)
|
|
|
NM_144687.4(NLRP12):c.2274C>T (p.Ala758=)
|
|
|
NM_144687.4(NLRP12):c.2277C>T (p.Cys759=)
|
|
|
NM_144687.4(NLRP12):c.2307T>C (p.Asn769=)
|
rs774760366
|
|
NM_144687.4(NLRP12):c.2313T>C (p.Asn771=)
|
|
|
NM_144687.4(NLRP12):c.2337C>T (p.Gly779=)
|
rs2091941014
|
|
NM_144687.4(NLRP12):c.2365C>T (p.Leu789=)
|
|
|
NM_144687.4(NLRP12):c.2385G>A (p.Arg795=)
|
rs769092109
|
|
NM_144687.4(NLRP12):c.2414+17G>T
|
rs199476243
|
|
NM_144687.4(NLRP12):c.2415-18C>G
|
|
|
NM_144687.4(NLRP12):c.2487G>C (p.Leu829=)
|
rs143499267
|
|
NM_144687.4(NLRP12):c.2500C>T (p.Leu834=)
|
|
|
NM_144687.4(NLRP12):c.2514A>G (p.Ala838=)
|
|
|
NM_144687.4(NLRP12):c.2517G>A (p.Leu839=)
|
|
|
NM_144687.4(NLRP12):c.2529C>T (p.Gly843=)
|
rs1291910228
|
|
NM_144687.4(NLRP12):c.2532G>A (p.Leu844=)
|
|
|
NM_144687.4(NLRP12):c.2532G>C (p.Leu844=)
|
|
|
NM_144687.4(NLRP12):c.2568C>T (p.Cys856=)
|
|
|
NM_144687.4(NLRP12):c.2585+11C>T
|
|
|
NM_144687.4(NLRP12):c.2585+13T>C
|
|
|
NM_144687.4(NLRP12):c.2586-10C>T
|
rs2122565030
|
|
NM_144687.4(NLRP12):c.2586-14T>A
|
|
|
NM_144687.4(NLRP12):c.2586-7T>C
|
rs979210892
|
|
NM_144687.4(NLRP12):c.2587C>T (p.Leu863=)
|
|
|
NM_144687.4(NLRP12):c.2595C>T (p.Ile865=)
|
rs2122564770
|
|
NM_144687.4(NLRP12):c.2631C>T (p.Ala877=)
|
|
|
NM_144687.4(NLRP12):c.2665C>T (p.Leu889=)
|
|
|
NM_144687.4(NLRP12):c.2677C>T (p.Leu893=)
|
rs1304569113
|
|
NM_144687.4(NLRP12):c.2694C>T (p.Asp898=)
|
rs2122562903
|
|
NM_144687.4(NLRP12):c.2697C>T (p.Leu899=)
|
|
|
NM_144687.4(NLRP12):c.2724C>A (p.Leu908=)
|
rs1477941161
|
|
NM_144687.4(NLRP12):c.2754G>A (p.Leu918=)
|
rs61741347
|
|
NM_144687.4(NLRP12):c.2756+7C>A
|
|
|
NM_144687.4(NLRP12):c.2757-12C>T
|
|
|
NM_144687.4(NLRP12):c.2757-13C>T
|
|
|
NM_144687.4(NLRP12):c.2766C>T (p.Ile922=)
|
rs1430424840
|
|
NM_144687.4(NLRP12):c.2828_2829dup (p.Arg944fs)
|
rs533054990
|
|
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.2835G>A (p.Glu945=)
|
|
|
NM_144687.4(NLRP12):c.2853C>T (p.Asn951=)
|
rs376516191
|
|
NM_144687.4(NLRP12):c.2862A>G (p.Gly954=)
|
|
|
NM_144687.4(NLRP12):c.289+12G>T
|
rs1360011107
|
|
NM_144687.4(NLRP12):c.289+18C>G
|
|
|
NM_144687.4(NLRP12):c.2893C>T (p.Leu965=)
|
|
|
NM_144687.4(NLRP12):c.290-11T>C
|
|
|
NM_144687.4(NLRP12):c.290-8T>C
|
rs768454480
|
|
NM_144687.4(NLRP12):c.2925G>C (p.Leu975=)
|
rs531178182
|
|
NM_144687.4(NLRP12):c.2927+19C>T
|
|
|
NM_144687.4(NLRP12):c.2927+4_2927+5dup
|
rs763190690
|
|
NM_144687.4(NLRP12):c.2928-14del
|
rs1478085976
|
|
NM_144687.4(NLRP12):c.2928-19_2928-14dup
|
|
|
NM_144687.4(NLRP12):c.2928-6C>T
|
|
|
NM_144687.4(NLRP12):c.2928-8T>G
|
|
|
NM_144687.4(NLRP12):c.2928-9C>T
|
|
|
NM_144687.4(NLRP12):c.2985G>A (p.Gly995=)
|
|
|
NM_144687.4(NLRP12):c.2997C>G (p.Thr999=)
|
|
|
NM_144687.4(NLRP12):c.3003C>G (p.Thr1001=)
|
rs556001110
|
|
NM_144687.4(NLRP12):c.3015G>A (p.Leu1005=)
|
|
|
NM_144687.4(NLRP12):c.3030A>G (p.Leu1010=)
|
rs2122504982
|
|
NM_144687.4(NLRP12):c.3088C>G (p.Arg1030Gly)
|
rs201619538
|
|
NM_144687.4(NLRP12):c.3090A>T (p.Arg1030=)
|
|
|
NM_144687.4(NLRP12):c.3098+10G>A
|
rs370047032
|
|
NM_144687.4(NLRP12):c.3098+10G>C
|
rs370047032
|
|
NM_144687.4(NLRP12):c.3098+18G>C
|
rs1412073330
|
|
NM_144687.4(NLRP12):c.3099-19T>G
|
|
|
NM_144687.4(NLRP12):c.3099-19_3099-17del
|
rs746495369
|
|
NM_144687.4(NLRP12):c.3099-22_3099-20del
|
rs2122482951
|
|
NM_144687.4(NLRP12):c.3168T>C (p.Tyr1056=)
|
rs1391833893
|
|
NM_144687.4(NLRP12):c.3180C>T (p.Gly1060=)
|
rs778964105
|
|
NM_144687.4(NLRP12):c.3185G>A (p.Ter1062=)
|
|
|
NM_144687.4(NLRP12):c.354T>C (p.Leu118=)
|
rs992477644
|
|
NM_144687.4(NLRP12):c.370+12G>A
|
|
|
NM_144687.4(NLRP12):c.370+14C>T
|
|
|
NM_144687.4(NLRP12):c.370+4A>G
|
|
|
NM_144687.4(NLRP12):c.370+7C>T
|
|
|
NM_144687.4(NLRP12):c.371-7C>A
|
rs775041962
|
|
NM_144687.4(NLRP12):c.375C>G (p.Pro125=)
|
|
|
NM_144687.4(NLRP12):c.393C>T (p.Asp131=)
|
|
|
NM_144687.4(NLRP12):c.396T>C (p.Tyr132=)
|
rs1165980149
|
|
NM_144687.4(NLRP12):c.39G>A (p.Leu13=)
|
rs2092308794
|
|
NM_144687.4(NLRP12):c.411C>T (p.Phe137=)
|
rs1438042635
|
|
NM_144687.4(NLRP12):c.417C>T (p.Leu139=)
|
rs759376100
|
|
NM_144687.4(NLRP12):c.436C>G (p.Arg146Gly)
|
|
|
NM_144687.4(NLRP12):c.436C>T (p.Arg146Cys)
|
rs200736514
|
|
NM_144687.4(NLRP12):c.444G>A (p.Gly148=)
|
|
|
NM_144687.4(NLRP12):c.456C>T (p.Asn152=)
|
|
|
NM_144687.4(NLRP12):c.466C>A (p.Arg156=)
|
|
|
NM_144687.4(NLRP12):c.471C>T (p.Tyr157=)
|
rs2122682662
|
|
NM_144687.4(NLRP12):c.49T>C (p.Leu17=)
|
|
|
NM_144687.4(NLRP12):c.543G>C (p.Arg181=)
|
|
|
NM_144687.4(NLRP12):c.606A>C (p.Pro202=)
|
|
|
NM_144687.4(NLRP12):c.616C>T (p.Arg206Cys)
|
rs111754022
|
|
NM_144687.4(NLRP12):c.621C>T (p.Pro207=)
|
|
|
NM_144687.4(NLRP12):c.633C>T (p.Arg211=)
|
|
|
NM_144687.4(NLRP12):c.636C>T (p.Thr212=)
|
|
|
NM_144687.4(NLRP12):c.666C>A (p.Gly222=)
|
|
|
NM_144687.4(NLRP12):c.705G>A (p.Ala235=)
|
rs759713074
|
|
NM_144687.4(NLRP12):c.708C>T (p.Asp236=)
|
rs775452176
|
|
NM_144687.4(NLRP12):c.741C>G (p.Leu247=)
|
|
|
NM_144687.4(NLRP12):c.750C>T (p.Ile250=)
|
rs2122678335
|
|
NM_144687.4(NLRP12):c.753C>T (p.Asn251=)
|
|
|
NM_144687.4(NLRP12):c.777C>G (p.Ala259=)
|
rs201099539
|
|
NM_144687.4(NLRP12):c.777C>T (p.Ala259=)
|
rs201099539
|
|
NM_144687.4(NLRP12):c.822G>A (p.Glu274=)
|
|
|
NM_144687.4(NLRP12):c.825C>G (p.Pro275=)
|
|
|
NM_144687.4(NLRP12):c.828C>T (p.Ser276=)
|
rs1467922706
|
|
NM_144687.4(NLRP12):c.831G>T (p.Ala277=)
|
|
|
NM_144687.4(NLRP12):c.837C>T (p.Leu279=)
|
|
|
NM_144687.4(NLRP12):c.858C>G (p.Pro286=)
|
rs145171629
|
|
NM_144687.4(NLRP12):c.879C>A (p.Ile293=)
|
rs771887223
|
|
NM_144687.4(NLRP12):c.882C>T (p.Asp294=)
|
rs147080557
|
|
NM_144687.4(NLRP12):c.924A>C (p.Gly308=)
|
rs2122674753
|
|
NM_144687.4(NLRP12):c.96G>A (p.Leu32=)
|
|
|
NM_144687.4(NLRP12):c.987G>T (p.Arg329=)
|
|
|
NM_144687.4(NLRP12):c.994C>T (p.Leu332=)
|
rs868790356
|
|
NM_144687.4(NLRP12):c.999C>A (p.Leu333=)
|
rs943319303
|
|
NM_148919.4(PSMB8):c.135C>T (p.Pro45=)
|
|
|
NM_148919.4(PSMB8):c.147+15G>A
|
rs2127380090
|
|
NM_148919.4(PSMB8):c.147+19C>T
|
|
|
NM_148919.4(PSMB8):c.148-13T>C
|
|
|
NM_148919.4(PSMB8):c.15T>C (p.Asp5=)
|
rs768986846
|
|
NM_148919.4(PSMB8):c.162C>T (p.Phe54=)
|
|
|
NM_148919.4(PSMB8):c.189G>A (p.Arg63=)
|
rs752051688
|
|
NM_148919.4(PSMB8):c.18A>C (p.Val6=)
|
|
|
NM_148919.4(PSMB8):c.195T>A (p.Val65=)
|
rs2127378696
|
|
NM_148919.4(PSMB8):c.228C>G (p.Leu76=)
|
|
|
NM_148919.4(PSMB8):c.228C>T (p.Leu76=)
|
|
|
NM_148919.4(PSMB8):c.240C>T (p.Phe80=)
|
rs529946385
|
|
NM_148919.4(PSMB8):c.258A>G (p.Ala86=)
|
|
|
NM_148919.4(PSMB8):c.27C>A (p.Ala9=)
|
|
|
NM_148919.4(PSMB8):c.296-15T>G
|
|
|
NM_148919.4(PSMB8):c.296-4C>T
|
rs2127378189
|
|
NM_148919.4(PSMB8):c.304C>A (p.Arg102=)
|
|
|
NM_148919.4(PSMB8):c.309G>T (p.Val103=)
|
rs2127378137
|
|
NM_148919.4(PSMB8):c.312C>T (p.Asn104=)
|
|
|
NM_148919.4(PSMB8):c.342T>C (p.Leu114=)
|
|
|
NM_148919.4(PSMB8):c.408-17A>G
|
|
|
NM_148919.4(PSMB8):c.441A>G (p.Ser147=)
|
rs1582606252
|
|
NM_148919.4(PSMB8):c.447G>A (p.Ser149=)
|
|
|
NM_148919.4(PSMB8):c.447G>T (p.Ser149=)
|
|
|
NM_148919.4(PSMB8):c.504T>C (p.Ser168=)
|
|
|
NM_148919.4(PSMB8):c.51G>C (p.Ser17=)
|
|
|
NM_148919.4(PSMB8):c.537+17C>A
|
rs2127376941
|
|
NM_148919.4(PSMB8):c.537+18T>C
|
|
|
NM_148919.4(PSMB8):c.555C>T (p.Tyr185=)
|
rs751342591
|
|
NM_148919.4(PSMB8):c.561T>C (p.Asp187=)
|
rs753281221
|
|
NM_148919.4(PSMB8):c.567T>C (p.His189=)
|
|
|
NM_148919.4(PSMB8):c.576G>A (p.Arg192=)
|
rs1769917216
|
|
NM_148919.4(PSMB8):c.57C>T (p.Leu19=)
|
|
|
NM_148919.4(PSMB8):c.606T>C (p.Ser202=)
|
|
|
NM_148919.4(PSMB8):c.609G>A (p.Gly203=)
|
|
|
NM_148919.4(PSMB8):c.60G>T (p.Pro20=)
|
|
|
NM_148919.4(PSMB8):c.648G>C (p.Arg216=)
|
rs1044076117
|
|
NM_148919.4(PSMB8):c.672C>T (p.Ala224=)
|
rs2127376198
|
|
NM_148919.4(PSMB8):c.690G>A (p.Arg230=)
|
|
|
NM_148919.4(PSMB8):c.6G>C (p.Ala2=)
|
|
|
NM_148919.4(PSMB8):c.735T>C (p.Val245=)
|
|
|
NM_148919.4(PSMB8):c.742+15C>T
|
|
|
NM_173841.3(IL1RN):c.10+11T>C
|
|
|
NM_173841.3(IL1RN):c.10+14A>C
|
|
|
NM_173841.3(IL1RN):c.10+18dup
|
|
|
NM_173841.3(IL1RN):c.11-17C>T
|
|
|
NM_173841.3(IL1RN):c.48A>G (p.Glu16=)
|
rs2104437489
|
|
NM_173841.3(IL1RN):c.73+18T>C
|
|
|
NM_173842.3(IL1RN):c.111C>T (p.Ala37=)
|
|
|
NM_173842.3(IL1RN):c.114C>T (p.Phe38=)
|
|
|
NM_173842.3(IL1RN):c.116+10C>A
|
|
|
NM_173842.3(IL1RN):c.116+13C>T
|
|
|
NM_173842.3(IL1RN):c.117-17G>C
|
|
|
NM_173842.3(IL1RN):c.117-18A>C
|
|
|
NM_173842.3(IL1RN):c.141C>G (p.Thr47=)
|
rs2104455713
|
|
NM_173842.3(IL1RN):c.159C>T (p.Asn53=)
|
|
|
NM_173842.3(IL1RN):c.205+15G>A
|
|
|
NM_173842.3(IL1RN):c.207A>G (p.Glu69=)
|
rs1274769729
|
|
NM_173842.3(IL1RN):c.243G>A (p.Leu81=)
|
rs1457547311
|
|
NM_173842.3(IL1RN):c.258T>C (p.His86=)
|
|
|
NM_173842.3(IL1RN):c.274C>T (p.Leu92=)
|
|
|
NM_173842.3(IL1RN):c.300G>A (p.Glu100=)
|
rs776628808
|
|
NM_173842.3(IL1RN):c.315G>A (p.Leu105=)
|
|
|
NM_173842.3(IL1RN):c.319-12T>C
|
|
|
NM_173842.3(IL1RN):c.319-16_319-12del
|
rs2104462201
|
|
NM_173842.3(IL1RN):c.319-20G>T
|
|
|
NM_173842.3(IL1RN):c.337C>T (p.Leu113=)
|
|
|
NM_173842.3(IL1RN):c.369C>T (p.Phe123=)
|
|
|
NM_173842.3(IL1RN):c.384A>T (p.Ser128=)
|
rs202172114
|
|
NM_173842.3(IL1RN):c.396C>G (p.Pro132=)
|
|
|
NM_173842.3(IL1RN):c.426C>G (p.Pro142=)
|
rs761311365
|
|
NM_173842.3(IL1RN):c.444A>G (p.Thr148=)
|
|
|
NM_173842.3(IL1RN):c.519C>T (p.Phe173=)
|
|
|
NM_173842.3(IL1RN):c.534G>A (p.Ter178=)
|
|
|
NM_173842.3(IL1RN):c.57C>G (p.Phe19Leu)
|
|
|
NM_183235.3(RAB27A):c.167G>A (p.Ser56Asn)
|
rs540520068
|
|
NM_198253.3(TERT):c.1110C>G (p.Pro370=)
|
rs1579597009
|
|
NM_198253.3(TERT):c.1662C>T (p.Val554=)
|
rs200539091
|
|
NM_198253.3(TERT):c.2007G>A (p.Arg669=)
|
rs1060504788
|
|
NM_198282.4(STING1):c.1065C>A (p.Ser355=)
|
|
|
NM_198282.4(STING1):c.1068G>A (p.Thr356=)
|
rs112829463
|
|
NM_198282.4(STING1):c.1077A>G (p.Gln359=)
|
|
|
NM_198282.4(STING1):c.1083T>C (p.Pro361=)
|
|
|
NM_198282.4(STING1):c.1124G>A (p.Arg375His)
|
rs117897081
|
|
NM_198282.4(STING1):c.1124G>T (p.Arg375Leu)
|
rs117897081
|
|
NM_198282.4(STING1):c.1139G>A (p.Ter380=)
|
rs1581447677
|
|
NM_198282.4(STING1):c.141G>C (p.Leu47=)
|
rs1304541029
|
|
NM_198282.4(STING1):c.174_175delinsTT (p.Leu58_Leu59=)
|
rs1581454853
|
|
NM_198282.4(STING1):c.178T>C (p.Leu60=)
|
rs1751848779
|
|
NM_198282.4(STING1):c.213C>T (p.Arg71=)
|
|
|
NM_198282.4(STING1):c.216C>T (p.His72=)
|
|
|
NM_198282.4(STING1):c.227+11G>T
|
rs2152094431
|
|
NM_198282.4(STING1):c.227+18C>A
|
|
|
NM_198282.4(STING1):c.227+9C>G
|
rs945821975
|
|
NM_198282.4(STING1):c.228-32_228-19del
|
rs759497611
|
|
NM_198282.4(STING1):c.276C>A (p.Pro92=)
|
|
|
NM_198282.4(STING1):c.300G>A (p.Leu100=)
|
|
|
NM_198282.4(STING1):c.30C>T (p.Ile10=)
|
rs766292927
|
|
NM_198282.4(STING1):c.324C>T (p.Ser108=)
|
|
|
NM_198282.4(STING1):c.330A>T (p.Pro110=)
|
|
|
NM_198282.4(STING1):c.345G>T (p.Pro115=)
|
|
|
NM_198282.4(STING1):c.366C>T (p.Ala122=)
|
rs1426349581
|
|
NM_198282.4(STING1):c.381G>T (p.Ser127=)
|
rs757686770
|
|
NM_198282.4(STING1):c.400C>T (p.Leu134=)
|
|
|
NM_198282.4(STING1):c.411+10A>G
|
rs1352670441
|
|
NM_198282.4(STING1):c.411+10_411+11del
|
|
|
NM_198282.4(STING1):c.411+10del
|
|
|
NM_198282.4(STING1):c.411+12G>A
|
|
|
NM_198282.4(STING1):c.411+12G>C
|
rs764655300
|
|
NM_198282.4(STING1):c.411+12G>T
|
|
|
NM_198282.4(STING1):c.411+17G>T
|
|
|
NM_198282.4(STING1):c.412-18A>G
|
|
|
NM_198282.4(STING1):c.412-7T>C
|
|
|
NM_198282.4(STING1):c.412-8G>A
|
rs2152094253
|
|
NM_198282.4(STING1):c.438A>G (p.Ala146=)
|
rs547610764
|
|
NM_198282.4(STING1):c.520+11C>A
|
|
|
NM_198282.4(STING1):c.520+11CT[2]
|
|
|
NM_198282.4(STING1):c.520+15C>T
|
|
|
NM_198282.4(STING1):c.520+19C>T
|
|
|
NM_198282.4(STING1):c.521-10C>T
|
rs2152093643
|
|
NM_198282.4(STING1):c.525C>T (p.Leu175=)
|
rs2152093641
|
|
NM_198282.4(STING1):c.565C>T (p.Leu189=)
|
rs2152093625
|
|
NM_198282.4(STING1):c.568C>T (p.Leu190=)
|
|
|
NM_198282.4(STING1):c.570A>G (p.Leu190=)
|
rs1228056296
|
|
NM_198282.4(STING1):c.579A>G (p.Ala193=)
|
|
|
NM_198282.4(STING1):c.589C>A (p.Arg197=)
|
rs763892914
|
|
NM_198282.4(STING1):c.60G>A (p.Lys20=)
|
|
|
NM_198282.4(STING1):c.664C>T (p.Leu222=)
|
|
|
NM_198282.4(STING1):c.712C>A (p.Arg238=)
|
|
|
NM_198282.4(STING1):c.735T>C (p.Tyr245=)
|
|
|
NM_198282.4(STING1):c.759+15G>T
|
|
|
NM_198282.4(STING1):c.759+19G>A
|
|
|
NM_198282.4(STING1):c.760-16C>T
|
rs2152093389
|
|
NM_198282.4(STING1):c.816A>G (p.Ser272=)
|
|
|
NM_198282.4(STING1):c.831T>C (p.Ala277=)
|
|
|
NM_198282.4(STING1):c.846G>A (p.Glu282=)
|
rs1751695966
|
|
NM_198282.4(STING1):c.906C>T (p.Ala302=)
|
rs2152093345
|
|
NM_198282.4(STING1):c.946+12_946+27del
|
|
|
NM_198282.4(STING1):c.946+19G>T
|
|
|
NM_198282.4(STING1):c.947-19C>T
|
rs1450154806
|
|
NM_198282.4(STING1):c.947-20C>G
|
|
|
NM_198282.4(STING1):c.947-9C>T
|
|
|
NM_198282.4(STING1):c.966C>T (p.Ser322=)
|
|
|
NM_198282.4(STING1):c.972G>A (p.Ser324=)
|
|
|
NM_198282.4(STING1):c.993G>A (p.Arg331=)
|
|
|
NM_198282.4(STING1):c.996C>T (p.His332=)
|
|
|
NM_198282.4(STING1):c.99T>A (p.Leu33=)
|
|
|
NM_199242.3(UNC13D):c.2896C>T (p.Arg966Trp)
|
rs118049905
|
|
NM_207122.2(EXT2):c.1008A>G (p.Gln336=)
|
|
|
NM_207122.2(EXT2):c.1026T>C (p.Val342=)
|
|
|
NM_207122.2(EXT2):c.1044T>C (p.Tyr348=)
|
rs2135020895
|
|
NM_207122.2(EXT2):c.1056C>T (p.Phe352=)
|
|
|
NM_207122.2(EXT2):c.1079+13T>C
|
|
|
NM_207122.2(EXT2):c.1079+17A>G
|
|
|
NM_207122.2(EXT2):c.1080-14G>A
|
|
|
NM_207122.2(EXT2):c.1083A>G (p.Ala361=)
|
|
|
NM_207122.2(EXT2):c.1128T>C (p.Ile376=)
|
|
|
NM_207122.2(EXT2):c.1149A>G (p.Arg383=)
|
|
|
NM_207122.2(EXT2):c.1167G>A (p.Gln389=)
|
rs2135029434
|
|
NM_207122.2(EXT2):c.1173+17T>A
|
|
|
NM_207122.2(EXT2):c.1173+8G>A
|
|
|
NM_207122.2(EXT2):c.1173+9C>T
|
|
|
NM_207122.2(EXT2):c.1174-14T>A
|
|
|
NM_207122.2(EXT2):c.1174-19A>G
|
|
|
NM_207122.2(EXT2):c.117C>T (p.Ala39=)
|
rs2134965644
|
|
NM_207122.2(EXT2):c.1221C>G (p.Ala407=)
|
|
|
NM_207122.2(EXT2):c.1221C>T (p.Ala407=)
|
rs1315721028
|
|
NM_207122.2(EXT2):c.1233G>A (p.Leu411=)
|
|
|
NM_207122.2(EXT2):c.12G>A (p.Ser4=)
|
|
|
NM_207122.2(EXT2):c.1305+14A>G
|
|
|
NM_207122.2(EXT2):c.1306-13T>C
|
rs749657208
|
|
NM_207122.2(EXT2):c.1306-14C>A
|
|
|
NM_207122.2(EXT2):c.1306-14C>T
|
|
|
NM_207122.2(EXT2):c.1306-8T>C
|
|
|
NM_207122.2(EXT2):c.1308G>A (p.Lys436=)
|
|
|
NM_207122.2(EXT2):c.1338C>T (p.Leu446=)
|
rs1955474586
|
|
NM_207122.2(EXT2):c.1342C>T (p.Leu448=)
|
|
|
NM_207122.2(EXT2):c.1344G>A (p.Leu448=)
|
|
|
NM_207122.2(EXT2):c.1350A>G (p.Pro450=)
|
|
|
NM_207122.2(EXT2):c.1353A>G (p.Pro451=)
|
|
|
NM_207122.2(EXT2):c.1371C>T (p.Thr457=)
|
|
|
NM_207122.2(EXT2):c.1392C>T (p.Asp464=)
|
|
|
NM_207122.2(EXT2):c.1440C>T (p.Pro480=)
|
rs2135185399
|
|
NM_207122.2(EXT2):c.1449C>T (p.Ser483=)
|
|
|
NM_207122.2(EXT2):c.147T>G (p.Ser49=)
|
|
|
NM_207122.2(EXT2):c.1495+12T>C
|
|
|
NM_207122.2(EXT2):c.1495+7dup
|
rs1376958816
|
|
NM_207122.2(EXT2):c.1496-17C>A
|
rs1370105753
|
|
NM_207122.2(EXT2):c.1518G>A (p.Arg506=)
|
|
|
NM_207122.2(EXT2):c.1524A>G (p.Pro508=)
|
|
|
NM_207122.2(EXT2):c.1524A>T (p.Pro508=)
|
|
|
NM_207122.2(EXT2):c.1525T>C (p.Leu509=)
|
|
|
NM_207122.2(EXT2):c.1575T>C (p.Pro525=)
|
rs372914384
|
|
NM_207122.2(EXT2):c.1626T>A (p.Ile542=)
|
|
|
NM_207122.2(EXT2):c.1662+17_1662+18del
|
|
|
NM_207122.2(EXT2):c.1662+18A>G
|
|
|
NM_207122.2(EXT2):c.1662+20T>C
|
|
|
NM_207122.2(EXT2):c.1663-14G>A
|
|
|
NM_207122.2(EXT2):c.1669C>A (p.Arg557=)
|
rs768532662
|
|
NM_207122.2(EXT2):c.1683C>T (p.Asp561=)
|
rs1955909250
|
|
NM_207122.2(EXT2):c.1701G>A (p.Pro567=)
|
|
|
NM_207122.2(EXT2):c.1708C>T (p.Leu570=)
|
|
|
NM_207122.2(EXT2):c.1743G>A (p.Lys581=)
|
rs772721212
|
|
NM_207122.2(EXT2):c.1752T>G (p.Ser584=)
|
|
|
NM_207122.2(EXT2):c.1764T>C (p.Asn588=)
|
rs2135259732
|
|
NM_207122.2(EXT2):c.1773C>T (p.Ser591=)
|
|
|
NM_207122.2(EXT2):c.1782C>T (p.Leu594=)
|
|
|
NM_207122.2(EXT2):c.1803C>T (p.His601=)
|
rs1590666591
|
|
NM_207122.2(EXT2):c.1806+16C>A
|
|
|
NM_207122.2(EXT2):c.1806+9G>T
|
rs2135260004
|
|
NM_207122.2(EXT2):c.1860A>G (p.Val620=)
|
|
|
NM_207122.2(EXT2):c.1863T>C (p.Asp621=)
|
|
|
NM_207122.2(EXT2):c.18G>A (p.Lys6=)
|
rs375300731
|
|
NM_207122.2(EXT2):c.1900C>T (p.Leu634=)
|
rs1955932950
|
|
NM_207122.2(EXT2):c.1911C>T (p.Asn637=)
|
|
|
NM_207122.2(EXT2):c.1917G>A (p.Thr639=)
|
|
|
NM_207122.2(EXT2):c.192T>C (p.Arg64=)
|
rs2134966282
|
|
NM_207122.2(EXT2):c.1935+19C>T
|
|
|
NM_207122.2(EXT2):c.1936-10C>T
|
|
|
NM_207122.2(EXT2):c.1936-12C>T
|
|
|
NM_207122.2(EXT2):c.1936-14T>C
|
rs2135267767
|
|
NM_207122.2(EXT2):c.1959G>A (p.Lys653=)
|
|
|
NM_207122.2(EXT2):c.198G>C (p.Val66=)
|
rs775542605
|
|
NM_207122.2(EXT2):c.2018+17C>A
|
|
|
NM_207122.2(EXT2):c.2028C>T (p.Cys676=)
|
|
|
NM_207122.2(EXT2):c.2046A>G (p.Ser682=)
|
|
|
NM_207122.2(EXT2):c.2103C>T (p.Tyr701=)
|
|
|
NM_207122.2(EXT2):c.210G>A (p.Arg70=)
|
|
|
NM_207122.2(EXT2):c.2130G>A (p.Lys710=)
|
rs2135284224
|
|
NM_207122.2(EXT2):c.245A>C (p.Asp82Ala)
|
rs534539796
|
|
NM_207122.2(EXT2):c.306C>T (p.Asn102=)
|
rs2134967175
|
|
NM_207122.2(EXT2):c.315G>A (p.Lys105=)
|
|
|
NM_207122.2(EXT2):c.321T>C (p.Tyr107=)
|
|
|
NM_207122.2(EXT2):c.33T>C (p.Gly11=)
|
|
|
NM_207122.2(EXT2):c.393T>C (p.Asn131=)
|
|
|
NM_207122.2(EXT2):c.417C>T (p.Asp139=)
|
|
|
NM_207122.2(EXT2):c.423C>T (p.Asp141=)
|
rs199916419
|
|
NM_207122.2(EXT2):c.456G>C (p.Leu152=)
|
|
|
NM_207122.2(EXT2):c.495G>A (p.Leu165=)
|
|
|
NM_207122.2(EXT2):c.516A>G (p.Gln172=)
|
|
|
NM_207122.2(EXT2):c.519G>A (p.Ala173=)
|
|
|
NM_207122.2(EXT2):c.519G>C (p.Ala173=)
|
rs148121594
|
|
NM_207122.2(EXT2):c.520A>C (p.Met174Leu)
|
rs111589746
|
|
NM_207122.2(EXT2):c.520A>T (p.Met174Leu)
|
rs111589746
|
|
NM_207122.2(EXT2):c.534T>C (p.Ser178=)
|
|
|
NM_207122.2(EXT2):c.536+10A>T
|
rs748432706
|
|
NM_207122.2(EXT2):c.536+14A>G
|
|
|
NM_207122.2(EXT2):c.536+15T>A
|
|
|
NM_207122.2(EXT2):c.536+17C>A
|
|
|
NM_207122.2(EXT2):c.536+19G>C
|
|
|
NM_207122.2(EXT2):c.536+20C>G
|
|
|
NM_207122.2(EXT2):c.536+7C>G
|
rs755324495
|
|
NM_207122.2(EXT2):c.545G>T (p.Arg182Leu)
|
rs563383543
|
|
NM_207122.2(EXT2):c.561G>C (p.Leu187=)
|
|
|
NM_207122.2(EXT2):c.570C>T (p.Asn190=)
|
|
|
NM_207122.2(EXT2):c.618C>A (p.Pro206=)
|
|
|
NM_207122.2(EXT2):c.626+14T>C
|
|
|
NM_207122.2(EXT2):c.626+19G>A
|
rs370903897
|
|
NM_207122.2(EXT2):c.627-18A>G
|
|
|
NM_207122.2(EXT2):c.657G>A (p.Thr219=)
|
|
|
NM_207122.2(EXT2):c.669G>A (p.Arg223=)
|
rs141410374
|
|
NM_207122.2(EXT2):c.687C>T (p.Ser229=)
|
rs2134984902
|
|
NM_207122.2(EXT2):c.705A>G (p.Pro235=)
|
|
|
NM_207122.2(EXT2):c.717G>A (p.Glu239=)
|
|
|
NM_207122.2(EXT2):c.744-12T>C
|
|
|
NM_207122.2(EXT2):c.744-20C>T
|
rs2135014483
|
|
NM_207122.2(EXT2):c.744-8C>T
|
|
|
NM_207122.2(EXT2):c.798A>G (p.Arg266=)
|
|
|
NM_207122.2(EXT2):c.84C>A (p.Thr28=)
|
|
|
NM_207122.2(EXT2):c.84C>T (p.Thr28=)
|
rs1954077511
|
|
NM_207122.2(EXT2):c.939+11T>C
|
|
|
NM_207122.2(EXT2):c.939+14A>C
|
|
|
NM_207122.2(EXT2):c.940-13del
|
rs765515424
|
|
NM_207122.2(EXT2):c.940-14T>G
|
|
|
NM_207122.2(EXT2):c.940-15T>C
|
|
|
NM_207122.2(EXT2):c.942G>A (p.Glu314=)
|
|
|
NM_207122.2(EXT2):c.951C>T (p.Phe317=)
|
rs2135020214
|
|
NM_207122.2(EXT2):c.969A>G (p.Gly323=)
|
|
|
NM_212482.4(FN1):c.1449G>A (p.Gln483=)
|
rs749775069
|
|
NM_212482.4(FN1):c.148+16G>A
|
rs367674539
|
|
NM_212482.4(FN1):c.1942-38GT[13]
|
rs5838511
|
|
NM_212482.4(FN1):c.1942-38GT[14]
|
rs5838511
|
|
NM_212482.4(FN1):c.2518+12G>C
|
rs7570208
|
|
NM_212482.4(FN1):c.2967G>C (p.Leu989=)
|
rs372040503
|
|
NM_212482.4(FN1):c.5964C>T (p.Ile1988=)
|
rs143393843
|
|
NM_212482.4(FN1):c.6507G>A (p.Pro2169=)
|
rs145436721
|
|
NM_212482.4(FN1):c.6634A>G (p.Ile2212Val)
|
rs17449032
|
|
NM_212482.4(FN1):c.7363-20del
|
rs752005289
|
|