ClinVar Miner

List of variants reported as likely benign for connective tissue disorder

Included ClinVar conditions (370):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 14353
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
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
NM_000138.5(FBN1):c.1038T>A (p.Ser346=) rs2141336171
NM_000138.5(FBN1):c.1113T>C (p.Thr371=)
NM_000138.5(FBN1):c.1147+19A>G rs369942195
NM_000138.5(FBN1):c.1148-16T>C
NM_000138.5(FBN1):c.1148-6T>C
NM_000138.5(FBN1):c.1164G>T (p.Leu388=)
NM_000138.5(FBN1):c.1175C>G (p.Pro392Arg) rs534127494
NM_000138.5(FBN1):c.1200A>G (p.Glu400=)
NM_000138.5(FBN1):c.1211C>A (p.Pro404Gln) rs779930519
NM_000138.5(FBN1):c.1211C>G (p.Pro404Arg) rs779930519
NM_000138.5(FBN1):c.1211C>T (p.Pro404Leu) rs779930519
NM_000138.5(FBN1):c.1239C>T (p.Leu413=) rs1308682011
NM_000138.5(FBN1):c.1266A>T (p.Gly422=) rs2141330973
NM_000138.5(FBN1):c.126C>G (p.Ala42=)
NM_000138.5(FBN1):c.1278G>A (p.Pro426=) rs113245313
NM_000138.5(FBN1):c.1278G>T (p.Pro426=) rs113245313
NM_000138.5(FBN1):c.1281C>A (p.Val427=) rs759949880
NM_000138.5(FBN1):c.1281C>G (p.Val427=) rs759949880
NM_000138.5(FBN1):c.1286G>A (p.Arg429Gln) rs368089138
NM_000138.5(FBN1):c.1286G>T (p.Arg429Leu) rs368089138
NM_000138.5(FBN1):c.1305G>A (p.Leu435=) rs769895864
NM_000138.5(FBN1):c.1311A>G (p.Pro437=) rs1253494702
NM_000138.5(FBN1):c.1327+7A>G rs529150174
NM_000138.5(FBN1):c.1328-15T>G rs2043793958
NM_000138.5(FBN1):c.1335G>T (p.Leu445=)
NM_000138.5(FBN1):c.135A>G (p.Arg45=) rs2140787554
NM_000138.5(FBN1):c.1461G>A (p.Glu487=)
NM_000138.5(FBN1):c.1468+12A>G
NM_000138.5(FBN1):c.1468+12A>T
NM_000138.5(FBN1):c.1468+15C>T rs762023380
NM_000138.5(FBN1):c.1468+19G>A
NM_000138.5(FBN1):c.1469-10T>C
NM_000138.5(FBN1):c.1469-14A>T rs2043779369
NM_000138.5(FBN1):c.1469-5T>G rs1060504144
NM_000138.5(FBN1):c.1469-6T>G
NM_000138.5(FBN1):c.1476T>C (p.Asp492=) rs758967612
NM_000138.5(FBN1):c.1506T>C (p.Gly502=) rs770426679
NM_000138.5(FBN1):c.150C>T (p.His50=) rs1597652302
NM_000138.5(FBN1):c.1524G>A (p.Gln508=)
NM_000138.5(FBN1):c.1530G>A (p.Ser510=) rs147511977
NM_000138.5(FBN1):c.1530G>T (p.Ser510=) rs147511977
NM_000138.5(FBN1):c.1536C>T (p.Thr512=) rs1178360874
NM_000138.5(FBN1):c.1542G>A (p.Gln514=)
NM_000138.5(FBN1):c.1560G>A (p.Gln520=)
NM_000138.5(FBN1):c.1566A>T (p.Thr522=) rs531264662
NM_000138.5(FBN1):c.1588+10T>G rs761924614
NM_000138.5(FBN1):c.1588+16C>T
NM_000138.5(FBN1):c.1588+20C>A
NM_000138.5(FBN1):c.1588+20C>G
NM_000138.5(FBN1):c.1588+9C>G rs757843637
NM_000138.5(FBN1):c.1589-20T>G
NM_000138.5(FBN1):c.1589-5T>C rs1371798538
NM_000138.5(FBN1):c.1589-7A>T rs1467162544
NM_000138.5(FBN1):c.1589-8G>T rs779629563
NM_000138.5(FBN1):c.1599G>A (p.Glu533=)
NM_000138.5(FBN1):c.1614C>T (p.Gly538=) rs2141323481
NM_000138.5(FBN1):c.1616G>A (p.Arg539Gln)
NM_000138.5(FBN1):c.1625A>G (p.Asn542Ser) rs963564435
NM_000138.5(FBN1):c.164+13G>T
NM_000138.5(FBN1):c.164+16C>T
NM_000138.5(FBN1):c.1641C>A (p.Ile547=) rs2141323402
NM_000138.5(FBN1):c.165-8T>G rs750029122
NM_000138.5(FBN1):c.1662T>C (p.His554=)
NM_000138.5(FBN1):c.1674T>C (p.Asn558=) rs2141323328
NM_000138.5(FBN1):c.1714+11T>C
NM_000138.5(FBN1):c.1714+13T>A
NM_000138.5(FBN1):c.1714+14A>G
NM_000138.5(FBN1):c.1714+7A>G
NM_000138.5(FBN1):c.1715-10G>A rs764128146
NM_000138.5(FBN1):c.1715-15G>A
NM_000138.5(FBN1):c.1715-17A>G
NM_000138.5(FBN1):c.1715-8A>G rs1555399978
NM_000138.5(FBN1):c.1715-9T>A rs1057520813
NM_000138.5(FBN1):c.1715-9T>C
NM_000138.5(FBN1):c.1732A>G (p.Ile578Val)
NM_000138.5(FBN1):c.1761T>C (p.Cys587=) rs1060504143
NM_000138.5(FBN1):c.1791T>C (p.Ile597=)
NM_000138.5(FBN1):c.1815A>G (p.Ala605=) rs2141321499
NM_000138.5(FBN1):c.1830T>C (p.Tyr610=) rs1247219658
NM_000138.5(FBN1):c.1837+12A>G
NM_000138.5(FBN1):c.1838-17G>A
NM_000138.5(FBN1):c.1838-17G>T
NM_000138.5(FBN1):c.192T>C (p.Asn64=)
NM_000138.5(FBN1):c.1940T>C (p.Leu647Pro) rs1566913983
NM_000138.5(FBN1):c.1947C>T (p.Gly649=) rs2141317155
NM_000138.5(FBN1):c.195T>C (p.Ala65=) rs759873157
NM_000138.5(FBN1):c.1960+14A>G
NM_000138.5(FBN1):c.1960+15T>C
NM_000138.5(FBN1):c.1960+9A>G
NM_000138.5(FBN1):c.1961-18A>G
NM_000138.5(FBN1):c.1961-5T>C rs919746497
NM_000138.5(FBN1):c.1962C>T (p.Asp654=)
NM_000138.5(FBN1):c.1980A>G (p.Thr660=) rs531454879
NM_000138.5(FBN1):c.198C>T (p.Tyr66=) rs2044669179
NM_000138.5(FBN1):c.1992A>C (p.Gly664=)
NM_000138.5(FBN1):c.1998G>A (p.Lys666=)
NM_000138.5(FBN1):c.2004C>T (p.Gly668=)
NM_000138.5(FBN1):c.2007G>A (p.Gln669=)
NM_000138.5(FBN1):c.2022G>A (p.Leu674=)
NM_000138.5(FBN1):c.2031T>C (p.Ala677=)
NM_000138.5(FBN1):c.2067G>A (p.Glu689=)
NM_000138.5(FBN1):c.2085T>C (p.Pro695=) rs2141315721
NM_000138.5(FBN1):c.2094G>A (p.Pro698=) rs144775475
NM_000138.5(FBN1):c.2100T>C (p.Pro700=)
NM_000138.5(FBN1):c.2103A>G (p.Ala701=) rs2141315644
NM_000138.5(FBN1):c.2113+18_2113+19delinsAT
NM_000138.5(FBN1):c.2114-15G>C rs1566912665
NM_000138.5(FBN1):c.2114-20T>C
NM_000138.5(FBN1):c.2114-7A>G
NM_000138.5(FBN1):c.2167+19A>C
NM_000138.5(FBN1):c.2168-11T>C
NM_000138.5(FBN1):c.2168-15T>G
NM_000138.5(FBN1):c.2168-4G>A rs2141306607
NM_000138.5(FBN1):c.2187A>G (p.Leu729=) rs61730055
NM_000138.5(FBN1):c.2207A>G (p.Asn736Ser) rs1566912242
NM_000138.5(FBN1):c.223C>T (p.Pro75Ser) rs886051252
NM_000138.5(FBN1):c.2241A>G (p.Lys747=) rs1045070535
NM_000138.5(FBN1):c.2268G>A (p.Val756=) rs2141306354
NM_000138.5(FBN1):c.2277T>C (p.Thr759=) rs1028807052
NM_000138.5(FBN1):c.2277T>G (p.Thr759=)
NM_000138.5(FBN1):c.228C>G (p.Gly76=) rs141651917
NM_000138.5(FBN1):c.2293+14C>A
NM_000138.5(FBN1):c.2293+15C>T
NM_000138.5(FBN1):c.2293+17A>G
NM_000138.5(FBN1):c.2293+8G>A
NM_000138.5(FBN1):c.2293+8G>T
NM_000138.5(FBN1):c.2294-18T>C
NM_000138.5(FBN1):c.2294-20T>C
NM_000138.5(FBN1):c.2294-9_2294-4del rs1597569681
NM_000138.5(FBN1):c.2340A>G (p.Gln780=)
NM_000138.5(FBN1):c.2343T>C (p.Cys781=) rs199647257
NM_000138.5(FBN1):c.2352T>A (p.Thr784=) rs2141305065
NM_000138.5(FBN1):c.2376C>T (p.Cys792=) rs1060504142
NM_000138.5(FBN1):c.2377C>T (p.Pro793Ser)
NM_000138.5(FBN1):c.237G>A (p.Gln79=)
NM_000138.5(FBN1):c.2385A>T (p.Gly795=)
NM_000138.5(FBN1):c.2391C>T (p.Ile797=) rs2141304992
NM_000138.5(FBN1):c.2397A>G (p.Lys799=)
NM_000138.5(FBN1):c.2404C>T (p.Leu802=)
NM_000138.5(FBN1):c.2419+16G>C
NM_000138.5(FBN1):c.2451T>G (p.Ile817Met)
NM_000138.5(FBN1):c.247+20G>A rs2140737315
NM_000138.5(FBN1):c.247+9A>C rs1298547542
NM_000138.5(FBN1):c.248-4A>G rs1597631751
NM_000138.5(FBN1):c.2493A>G (p.Glu831=) rs756410019
NM_000138.5(FBN1):c.2508T>C (p.Ser836=) rs193922190
NM_000138.5(FBN1):c.2521A>T (p.Thr841Ser) rs1381506466
NM_000138.5(FBN1):c.2529C>T (p.Thr843=)
NM_000138.5(FBN1):c.2539+10T>A rs878853679
NM_000138.5(FBN1):c.2539+10T>C rs878853679
NM_000138.5(FBN1):c.2539+11T>C
NM_000138.5(FBN1):c.2539+13C>T
NM_000138.5(FBN1):c.2539+17G>A
NM_000138.5(FBN1):c.2539+19A>T rs370949913
NM_000138.5(FBN1):c.2539+9C>T rs765271763
NM_000138.5(FBN1):c.2540-10T>A
NM_000138.5(FBN1):c.2544C>T (p.Thr848=) rs2043596539
NM_000138.5(FBN1):c.2568T>C (p.Thr856=)
NM_000138.5(FBN1):c.258G>T (p.Arg86=)
NM_000138.5(FBN1):c.2601T>C (p.Asn867=)
NM_000138.5(FBN1):c.2613A>G (p.Leu871=) rs770290542
NM_000138.5(FBN1):c.2646G>A (p.Ala882=) rs376040442
NM_000138.5(FBN1):c.2646G>C (p.Ala882=) rs376040442
NM_000138.5(FBN1):c.2662A>T (p.Thr888Ser)
NM_000138.5(FBN1):c.2664C>T (p.Thr888=) rs1597568804
NM_000138.5(FBN1):c.2665C>G (p.Leu889Val)
NM_000138.5(FBN1):c.2666T>A (p.Leu889Gln)
NM_000138.5(FBN1):c.2667A>G (p.Leu889=) rs780192241
NM_000138.5(FBN1):c.2674G>A (p.Val892Ile)
NM_000138.5(FBN1):c.2677+14A>G
NM_000138.5(FBN1):c.2677+15T>C
NM_000138.5(FBN1):c.2677+16G>A
NM_000138.5(FBN1):c.2677+18T>G
NM_000138.5(FBN1):c.2678-10T>C rs1457653118
NM_000138.5(FBN1):c.2678-8T>C
NM_000138.5(FBN1):c.2678-9T>A rs2141302502
NM_000138.5(FBN1):c.2691T>C (p.Gly897=) rs1555399096
NM_000138.5(FBN1):c.2718A>G (p.Thr906=) rs2141302366
NM_000138.5(FBN1):c.2721A>G (p.Gln907=) rs781062880
NM_000138.5(FBN1):c.2721A>T (p.Gln907His) rs781062880
NM_000138.5(FBN1):c.2728+13A>G
NM_000138.5(FBN1):c.2728+14C>G
NM_000138.5(FBN1):c.2728+16T>G
NM_000138.5(FBN1):c.2728+18T>A
NM_000138.5(FBN1):c.2728+18T>C
NM_000138.5(FBN1):c.2729-11T>C
NM_000138.5(FBN1):c.2729-13T>G
NM_000138.5(FBN1):c.2729-14T>G
NM_000138.5(FBN1):c.2729-16T>C
NM_000138.5(FBN1):c.2729-17T>C
NM_000138.5(FBN1):c.2729-19A>T
NM_000138.5(FBN1):c.2729-3del rs756503206
NM_000138.5(FBN1):c.2729-7T>C rs1269178652
NM_000138.5(FBN1):c.2729-8C>A rs775257418
NM_000138.5(FBN1):c.2729-8C>T rs775257418
NM_000138.5(FBN1):c.2736T>C (p.Asp912=)
NM_000138.5(FBN1):c.2784C>T (p.Asn928=)
NM_000138.5(FBN1):c.2790G>A (p.Arg930=)
NM_000138.5(FBN1):c.2796A>G (p.Ser932=) rs1261762653
NM_000138.5(FBN1):c.2799C>T (p.Phe933=) rs2141300339
NM_000138.5(FBN1):c.27C>T (p.Ile9=) rs1057522209
NM_000138.5(FBN1):c.2808G>A (p.Gln936=)
NM_000138.5(FBN1):c.2817T>C (p.Ser939=) rs1254659886
NM_000138.5(FBN1):c.2854+10G>A rs768540741
NM_000138.5(FBN1):c.2854+11A>G
NM_000138.5(FBN1):c.2854+15C>T
NM_000138.5(FBN1):c.2854+20T>C
NM_000138.5(FBN1):c.2854+7A>G
NM_000138.5(FBN1):c.2854+9T>G
NM_000138.5(FBN1):c.2855-11C>T
NM_000138.5(FBN1):c.2855-16T>C rs2141297617
NM_000138.5(FBN1):c.2855-18C>G
NM_000138.5(FBN1):c.2855-19C>T
NM_000138.5(FBN1):c.2855-8T>C rs193922195
NM_000138.5(FBN1):c.2856T>C (p.Asp952=)
NM_000138.5(FBN1):c.2905C>T (p.Leu969=) rs376776832
NM_000138.5(FBN1):c.2913T>C (p.Ile971=) rs2141297416
NM_000138.5(FBN1):c.2934C>T (p.Asp978=) rs138438849
NM_000138.5(FBN1):c.2952C>A (p.Val984=) rs374670384
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=)
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=)
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=)
NM_002609.4(PDGFRB):c.1567G>A (p.Val523Met)
NM_002609.4(PDGFRB):c.1580-8G>A
NM_002609.4(PDGFRB):c.1629G>A (p.Val543=)
NM_002609.4(PDGFRB):c.1663C>G (p.Leu555Val)
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
NM_002609.4(PDGFRB):c.1675-4C>T
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=)
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)
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
NM_002609.4(PDGFRB):c.2184-7C>T
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=)
NM_002609.4(PDGFRB):c.2298C>T (p.Ile766=)
NM_002609.4(PDGFRB):c.2345-18C>T
NM_002609.4(PDGFRB):c.2394A>C (p.Leu798=)
NM_002609.4(PDGFRB):c.2499C>A (p.Leu833=)
NM_002609.4(PDGFRB):c.2557C>A (p.Arg853=)
NM_002609.4(PDGFRB):c.2559G>A (p.Arg853=)
NM_002609.4(PDGFRB):c.2586+13C>T
NM_002609.4(PDGFRB):c.2586+20C>A
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

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.