NM_001111.5(ADAR):c.78G>A (p.Arg26=)
|
rs1802645
|
0.99723
|
NM_002661.5(PLCG2):c.2055-8T>C
|
rs12448130
|
0.99057
|
NM_153460.4(IL17RC):c.2133C>G (p.Gly711=)
|
rs183956
|
0.98560
|
NM_006904.7(PRKDC):c.1623+6A>G
|
rs1231202
|
0.96352
|
NM_025099.6(CTC1):c.2458A>G (p.Ile820Val)
|
rs3027238
|
0.94552
|
NM_006254.4(PRKCD):c.1857T>C (p.Pro619=)
|
rs900495
|
0.94337
|
NM_006254.4(PRKCD):c.1782C>G (p.Thr594=)
|
rs1075865
|
0.93819
|
NM_153006.3(NAGS):c.1451+9T>C
|
rs228773
|
0.93334
|
NM_000246.4(CIITA):c.2699A>G (p.Gln900Arg)
|
rs7197779
|
0.92908
|
NM_001375834.1(WIPF1):c.593C>T (p.Pro198Leu)
|
rs4972450
|
0.92386
|
NM_003664.5(AP3B1):c.1754T>A (p.Val585Glu)
|
rs6453373
|
0.91917
|
NM_001006658.3(CR2):c.3185C>A (p.Ala1062Glu)
|
rs17617
|
0.88540
|
NM_018344.6(SLC29A3):c.383+8A>G
|
rs2243540
|
0.87959
|
NM_018344.6(SLC29A3):c.976A>G (p.Ile326Val)
|
rs2487068
|
0.87306
|
NM_198282.4(STING1):c.695A>G (p.His232Arg)
|
rs1131769
|
0.87015
|
NM_000631.5(NCF4):c.758+57T>C
|
rs2075939
|
0.86715
|
NM_147686.4(TRAF3IP2):c.969C>A (p.His323Gln)
|
rs1043730
|
0.85701
|
NM_001572.5(IRF7):c.327G>A (p.Arg109=)
|
rs1061501
|
0.84827
|
NM_005263.5(GFI1):c.465C>T (p.Cys155=)
|
rs11164605
|
0.84576
|
NM_018344.6(SLC29A3):c.1008T>C (p.Gly336=)
|
rs1084004
|
0.84205
|
NM_001364905.1(LRBA):c.4569+9C>T
|
rs186080
|
0.83135
|
NM_005101.4(ISG15):c.294A>G (p.Val98=)
|
rs8997
|
0.83017
|
NM_014339.7(IL17RA):c.932-10C>T
|
rs2241046
|
0.81871
|
NM_012452.3(TNFRSF13B):c.81G>A (p.Thr27=)
|
rs8072293
|
0.81820
|
NM_001283009.2(RTEL1):c.2544T>C (p.Pro848=)
|
rs3208007
|
0.81548
|
NM_001283009.2(RTEL1):c.3126A>C (p.Gln1042His)
|
rs3208008
|
0.81536
|
NM_001283009.2(RTEL1):c.1992T>C (p.Asp664=)
|
rs6062302
|
0.81476
|
NM_001122681.2(SH3BP2):c.300T>C (p.His100=)
|
rs3213501
|
0.79911
|
NM_001283009.2(RTEL1):c.2274G>A (p.Ala758=)
|
rs2236506
|
0.79477
|
NM_000350.3(ABCA4):c.6069T>C (p.Ile2023=)
|
rs1762114
|
0.78856
|
NM_002029.4(FPR1):c.32T>C (p.Ile11Thr)
|
rs5030878
|
0.78476
|
NM_003982.4(SLC7A7):c.1527A>G (p.Lys509=)
|
rs1061040
|
0.77937
|
NM_025099.6(CTC1):c.3013A>G (p.Ile1005Val)
|
rs3826543
|
0.77529
|
NM_021803.4(IL21):c.234C>T (p.Cys78=)
|
rs4833837
|
0.76501
|
NM_006254.4(PRKCD):c.1441C>T (p.Leu481=)
|
rs2306574
|
0.75510
|
NM_203447.4(DOCK8):c.5433G>A (p.Glu1811=)
|
rs1887957
|
0.75495
|
NM_030662.4(MAP2K2):c.919+12A>G
|
rs350911
|
0.74641
|
NM_000211.5(ITGB2):c.1323T>C (p.Val441=)
|
rs235326
|
0.74399
|
NM_003954.5(MAP3K14):c.2706C>G (p.Val902=)
|
rs1047833
|
0.74340
|
NM_001558.4(IL10RA):c.1051A>G (p.Arg351Gly)
|
rs2229113
|
0.73756
|
NM_182916.3(TRNT1):c.948A>G (p.Ala316=)
|
rs1705805
|
0.73295
|
NM_002661.5(PLCG2):c.1497C>T (p.Ala499=)
|
rs1143689
|
0.72851
|
NM_002185.5(IL7R):c.412G>A (p.Val138Ile)
|
rs1494555
|
0.72524
|
NM_182919.4(TICAM1):c.12A>G (p.Thr4=)
|
rs7255265
|
0.72359
|
NM_000043.6(FAS):c.642T>C (p.Thr214=)
|
rs2234978
|
0.72086
|
NM_080424.4(SP110):c.895G>A (p.Gly299Arg)
|
rs1365776
|
0.71538
|
NM_203447.4(DOCK8):c.4785+6C>G
|
rs7036567
|
0.70190
|
NM_203447.4(DOCK8):c.4886+3A>G
|
rs2360712
|
0.69369
|
NM_032492.4(JAGN1):c.96T>C (p.Thr32=)
|
rs279553
|
0.69356
|
NM_000101.4(CYBA):c.521T>C (p.Val174Ala)
|
rs1049254
|
0.68722
|
NM_022168.4(IFIH1):c.2528A>G (p.His843Arg)
|
rs3747517
|
0.68382
|
NM_002185.5(IL7R):c.197T>C (p.Ile66Thr)
|
rs1494558
|
0.68368
|
NM_002661.5(PLCG2):c.174T>C (p.Ala58=)
|
rs1143685
|
0.68306
|
NM_032638.5(GATA2):c.15C>G (p.Pro5=)
|
rs1573858
|
0.68160
|
NM_006949.4(STXBP2):c.1576A>G (p.Ile526Val)
|
rs6791
|
0.67805
|
NM_007074.4(CORO1A):c.336A>G (p.Pro112=)
|
rs1132812
|
0.67557
|
NM_001083116.3(PRF1):c.900C>T (p.His300=)
|
rs885822
|
0.67032
|
NM_053013.4(ENO3):c.212A>G (p.Asn71Ser)
|
rs238238
|
0.65415
|
NM_000101.4(CYBA):c.214T>C (p.Tyr72His)
|
rs4673
|
0.64973
|
NM_001875.5(CPS1):c.2679C>G (p.Gly893=)
|
rs2287599
|
0.64925
|
NM_000246.4(CIITA):c.2676G>A (p.Thr892=)
|
rs2228238
|
0.64681
|
NM_006231.4(POLE):c.910-6G>C
|
rs4077170
|
0.64353
|
NM_000626.4(CD79B):c.366T>C (p.Cys122=)
|
rs2070776
|
0.64196
|
NM_004371.4(COPA):c.363C>T (p.Asn121=)
|
rs1802778
|
0.63518
|
NM_001199138.2(NLRC4):c.1824C>T (p.Ala608=)
|
rs455060
|
0.63173
|
NM_000355.4(TCN2):c.776G>C (p.Arg259Pro)
|
rs1801198
|
0.63049
|
NM_001364905.1(LRBA):c.7849+10A>G
|
rs1813134
|
0.62993
|
NM_005188.4(CBL):c.1095+19G>T
|
rs2510152
|
0.61865
|
NM_001111.5(ADAR):c.1151A>G (p.Lys384Arg)
|
rs2229857
|
0.61729
|
NM_018344.6(SLC29A3):c.473C>T (p.Ser158Phe)
|
rs780668
|
0.61569
|
NM_001082486.2(ACD):c.1295T>C (p.Val432Ala)
|
rs6979
|
0.60624
|
NM_006892.4(DNMT3B):c.1572T>C (p.Cys524=)
|
rs6058891
|
0.59749
|
NM_006892.4(DNMT3B):c.1674T>C (p.Tyr558=)
|
rs2424922
|
0.59732
|
NM_003183.6(ADAM17):c.1824T>C (p.Ser608=)
|
rs1048610
|
0.59724
|
NM_003190.5(TAPBP):c.779C>G (p.Thr260Arg)
|
rs2071888
|
0.59589
|
NM_006846.4(SPINK5):c.1659C>T (p.Val553=)
|
rs2303071
|
0.58781
|
NM_001199138.2(NLRC4):c.543A>C (p.Arg181=)
|
rs408813
|
0.58740
|
NM_152468.5(TMC8):c.1107G>A (p.Glu369=)
|
rs12452890
|
0.58602
|
NM_006892.4(DNMT3B):c.1906-5T>C
|
rs2424928
|
0.58051
|
NM_003982.4(SLC7A7):c.159G>A (p.Ser53=)
|
rs1805059
|
0.57983
|
NM_006846.4(SPINK5):c.3009T>C (p.Gly1003=)
|
rs2400478
|
0.56263
|
NM_006892.4(DNMT3B):c.1760-5C>G
|
rs1997797
|
0.55509
|
NM_152468.5(TMC8):c.917A>T (p.Asn306Ile)
|
rs7208422
|
0.55328
|
NM_032415.7(CARD11):c.3276A>G (p.Arg1092=)
|
rs1124581
|
0.54386
|
NM_153006.3(NAGS):c.*3C>T
|
rs186636
|
0.54224
|
NM_006846.4(SPINK5):c.2132G>A (p.Arg711Gln)
|
rs3777134
|
0.54171
|
NM_006846.4(SPINK5):c.2412C>T (p.Gly804=)
|
rs33920397
|
0.54161
|
NM_006846.4(SPINK5):c.2358C>T (p.Leu786=)
|
rs17704908
|
0.54150
|
NM_020661.4(AICDA):c.465C>T (p.His155=)
|
rs2028373
|
0.53597
|
NM_003982.4(SLC7A7):c.498T>C (p.Ile166=)
|
rs8018462
|
0.53238
|
NM_198282.4(STING1):c.144G>C (p.Val48=)
|
rs7447927
|
0.52424
|
NM_153460.4(IL17RC):c.332C>T (p.Ser111Leu)
|
rs708567
|
0.51321
|
NM_032790.4(ORAI1):c.798T>C (p.Thr266=)
|
rs3825175
|
0.50916
|
NM_006846.4(SPINK5):c.800A>G (p.Gln267Arg)
|
rs6892205
|
0.50665
|
NM_001558.4(IL10RA):c.459A>G (p.Ala153=)
|
rs2256111
|
0.50461
|
NM_001330588.2(TPP2):c.780T>C (p.Ser260=)
|
rs2230854
|
0.50210
|
NM_001330588.2(TPP2):c.620+10G>A
|
rs4576935
|
0.50076
|
NM_000153.4(GALC):c.1685T>C (p.Ile562Thr)
|
rs398607
|
0.49946
|
NM_199242.3(UNC13D):c.3198A>G (p.Glu1066=)
|
rs7210574
|
0.49757
|
NM_032977.4(CASP10):c.177A>G (p.Ser59=)
|
rs3900115
|
0.49172
|
NM_012452.3(TNFRSF13B):c.831T>C (p.Ser277=)
|
rs11078355
|
0.48964
|
NM_000243.3(MEFV):c.306T>C (p.Asp102=)
|
rs224225
|
0.48544
|
NM_000243.3(MEFV):c.495C>A (p.Ala165=)
|
rs224223
|
0.48450
|
NM_203447.4(DOCK8):c.289C>A (p.Pro97Thr)
|
rs529208
|
0.47790
|
NM_199242.3(UNC13D):c.2599A>G (p.Lys867Glu)
|
rs1135688
|
0.47045
|
NM_020964.3(EPG5):c.3173T>C (p.Val1058Ala)
|
rs3744998
|
0.46686
|
NM_004946.3(DOCK2):c.2727G>A (p.Gln909=)
|
rs261623
|
0.46437
|
NM_006846.4(SPINK5):c.1004C>T (p.Ala335Val)
|
rs34482796
|
0.45563
|
NM_000433.4(NCF2):c.542A>G (p.Lys181Arg)
|
rs2274064
|
0.45154
|
NM_203447.4(DOCK8):c.4107C>G (p.Leu1369=)
|
rs2297079
|
0.44487
|
NM_006846.4(SPINK5):c.1389A>G (p.Gly463=)
|
rs6896303
|
0.44173
|
NM_006846.4(SPINK5):c.1258A>G (p.Lys420Glu)
|
rs2303067
|
0.44148
|
NM_006846.4(SPINK5):c.1188T>C (p.His396=)
|
rs2303065
|
0.44136
|
NM_006846.4(SPINK5):c.1103G>A (p.Ser368Asn)
|
rs2303063
|
0.44127
|
NM_000101.4(CYBA):c.203+8T>C
|
rs4782393
|
0.44118
|
NM_001282225.2(ADA2):c.159C>T (p.Asn53=)
|
rs362129
|
0.43592
|
NM_001382567.1(STIM1):c.1080A>G (p.Gln360=)
|
rs2304891
|
0.43325
|
NM_006949.4(STXBP2):c.1443T>C (p.Asp481=)
|
rs10001
|
0.43223
|
NM_053013.4(ENO3):c.254T>C (p.Val85Ala)
|
rs238239
|
0.43006
|
NM_006949.4(STXBP2):c.38-7C>T
|
rs8104339
|
0.42983
|
NM_001033855.3(DCLRE1C):c.643C>T (p.Leu215=)
|
rs7076862
|
0.42876
|
NM_004946.3(DOCK2):c.3612C>T (p.Thr1204=)
|
rs3763048
|
0.42784
|
NM_032977.4(CASP10):c.1564T>A (p.Leu522Ile)
|
rs13006529
|
0.42733
|
NM_148919.4(PSMB8):c.407+6C>T
|
rs9276810
|
0.42678
|
NM_001290043.2(TAP2):c.1636-10T>C
|
rs241436
|
0.42321
|
NM_000081.4(LYST):c.1251A>G (p.Gln417=)
|
rs1063128
|
0.41864
|
NM_000081.4(LYST):c.1683A>G (p.Leu561=)
|
rs3820553
|
0.41844
|
NM_000081.4(LYST):c.4956A>G (p.Leu1652=)
|
rs6696123
|
0.41826
|
NM_004946.3(DOCK2):c.3468-4G>A
|
rs3763047
|
0.41818
|
NM_000081.4(LYST):c.5373G>A (p.Lys1791=)
|
rs2273584
|
0.41769
|
NM_001111.5(ADAR):c.3443+8G>A
|
rs9427094
|
0.40966
|
NM_004946.3(DOCK2):c.3456C>G (p.Leu1152=)
|
rs9791113
|
0.40563
|
NM_001366385.1(CARD14):c.2399-4A>G
|
rs11653893
|
0.40359
|
NM_001065.4(TNFRSF1A):c.36A>G (p.Pro12=)
|
rs767455
|
0.39963
|
NM_001366385.1(CARD14):c.2458C>T (p.Arg820Trp)
|
rs11652075
|
0.39960
|
NM_005214.5(CTLA4):c.49A>G (p.Thr17Ala)
|
rs231775
|
0.39951
|
NM_000383.4(AIRE):c.1197T>C (p.Ala399=)
|
rs1800521
|
0.39834
|
NM_002661.5(PLCG2):c.3093T>C (p.Asn1031=)
|
rs1071644
|
0.39075
|
NM_001167.4(XIAP):c.1268A>C (p.Gln423Pro)
|
rs5956583
|
0.38953
|
NM_005101.4(ISG15):c.248G>A (p.Ser83Asn)
|
rs1921
|
0.38885
|
NM_001369369.1(FOXN1):c.1795G>C (p.Ala599Pro)
|
rs532648
|
0.38842
|
NM_001065.4(TNFRSF1A):c.625+10A>G
|
rs1800693
|
0.38055
|
NM_001875.5(CPS1):c.3405-29A>T
|
rs3213784
|
0.37981
|
NM_172245.4(CSF2RA):c.999G>A (p.Val333=)
|
rs28460440
|
0.37040
|
NM_002029.4(FPR1):c.301G>C (p.Val101Leu)
|
rs2070745
|
0.36919
|
NM_001122681.2(SH3BP2):c.123G>T (p.Leu41=)
|
rs231402
|
0.36399
|
NM_001366385.1(CARD14):c.1641G>C (p.Arg547Ser)
|
rs2066964
|
0.35511
|
NM_001370466.1(NOD2):c.453C>G (p.Ser151=)
|
rs2067085
|
0.35090
|
NM_005343.4(HRAS):c.81T>C (p.His27=)
|
rs12628
|
0.34645
|
NM_001379200.1(TBX1):c.691C>T (p.Leu231=)
|
rs2301558
|
0.34251
|
NM_001572.5(IRF7):c.535A>G (p.Lys179Glu)
|
rs1061502
|
0.33801
|
NM_001572.5(IRF7):c.1235A>G (p.Gln412Arg)
|
rs1131665
|
0.33779
|
NM_203447.4(DOCK8):c.65C>T (p.Ala22Val)
|
rs506121
|
0.32449
|
NM_001370466.1(NOD2):c.1680T>G (p.Arg560=)
|
rs1861759
|
0.32445
|
NM_004946.3(DOCK2):c.4896T>C (p.Arg1632=)
|
rs1045168
|
0.32381
|
NM_001366385.1(CARD14):c.676-6G>A
|
rs28674001
|
0.31201
|
NM_181523.3(PIK3R1):c.219C>T (p.Tyr73=)
|
rs706713
|
0.31073
|
NM_004333.6(BRAF):c.1929A>G (p.Gly643=)
|
rs9648696
|
0.30796
|
NM_002029.4(FPR1):c.546C>A (p.Pro182=)
|
rs2070746
|
0.30428
|
NM_014339.7(IL17RA):c.1100C>T (p.Ala367Val)
|
rs879577
|
0.29184
|
NM_001282225.2(ADA2):c.1359T>C (p.Tyr453=)
|
rs7289170
|
0.28593
|
NM_000289.6(PFKM):c.2334T>G (p.Ala778=)
|
rs8716
|
0.28514
|
NM_002185.5(IL7R):c.1066A>G (p.Ile356Val)
|
rs3194051
|
0.28365
|
NM_001111.5(ADAR):c.15+10G>T
|
rs58655370
|
0.27999
|
NM_000246.4(CIITA):c.1499G>C (p.Gly500Ala)
|
rs4774
|
0.27935
|
NM_001079.4(ZAP70):c.1677G>A (p.Glu559=)
|
rs3192177
|
0.27555
|
NM_001282225.2(ADA2):c.1240-5C>G
|
rs3764846
|
0.27480
|
NM_003265.3(TLR3):c.1377C>T (p.Phe459=)
|
rs3775290
|
0.27189
|
NM_001290043.2(TAP2):c.608+7G>A
|
rs2071466
|
0.26274
|
NM_014339.7(IL17RA):c.2160C>T (p.Pro720=)
|
rs4819555
|
0.25992
|
NM_203447.4(DOCK8):c.1238A>G (p.Asn413Ser)
|
rs10970979
|
0.24995
|
NM_001164277.2(SLC37A4):c.1224G>A (p.Thr408=)
|
rs8192696
|
0.24916
|
NM_203447.4(DOCK8):c.2340G>C (p.Leu780=)
|
rs10814431
|
0.24804
|
NM_020529.3(NFKBIA):c.81C>T (p.Asp27=)
|
rs1957106
|
0.24766
|
NM_001875.5(CPS1):c.3756+45C>T
|
rs6435580
|
0.24723
|
NM_006846.4(SPINK5):c.1156G>A (p.Asp386Asn)
|
rs2303064
|
0.24722
|
NM_001290043.2(TAP2):c.1158G>T (p.Gly386=)
|
rs2228397
|
0.24300
|
NM_003664.5(AP3B1):c.2016T>C (p.Ala672=)
|
rs42360
|
0.23948
|
NM_004946.3(DOCK2):c.3195A>C (p.Leu1065=)
|
rs2287727
|
0.23497
|
NM_203447.4(DOCK8):c.1812A>G (p.Lys604=)
|
rs913703
|
0.23408
|
NM_144687.4(NLRP12):c.116G>T (p.Gly39Val)
|
rs34436714
|
0.22387
|
NM_153460.4(IL17RC):c.1047C>T (p.Asn349=)
|
rs279548
|
0.22119
|
NM_000211.5(ITGB2):c.819G>A (p.Gly273=)
|
rs2230528
|
0.21986
|
NM_001166686.2(PFKM):c.5A>T (p.His2Leu)
|
rs11609399
|
0.21767
|
NM_000383.4(AIRE):c.681C>T (p.Gly227=)
|
rs1055311
|
0.21613
|
NM_000246.4(CIITA):c.2421G>T (p.Leu807=)
|
rs34654419
|
0.21279
|
NM_198253.3(TERT):c.915G>A (p.Ala305=)
|
rs2736098
|
0.21206
|
NM_002185.5(IL7R):c.731C>T (p.Thr244Ile)
|
rs6897932
|
0.21045
|
NM_000211.5(ITGB2):c.24G>T (p.Leu8=)
|
rs11088969
|
0.20978
|
NM_000417.3(IL2RA):c.367+7G>C
|
rs11256369
|
0.20897
|
NM_014339.7(IL17RA):c.1458C>T (p.Ile486=)
|
rs879575
|
0.20567
|
NM_000350.3(ABCA4):c.5836-11G>A
|
rs1800739
|
0.20309
|
NM_000350.3(ABCA4):c.5844A>G (p.Pro1948=)
|
rs2275029
|
0.19626
|
NM_199242.3(UNC13D):c.1992+5G>A
|
rs17581728
|
0.19407
|
NM_003982.4(SLC7A7):c.660T>C (p.Gly220=)
|
rs1805061
|
0.18661
|
NM_003664.5(AP3B1):c.1038T>C (p.Asn346=)
|
rs4532349
|
0.18606
|
NM_004946.3(DOCK2):c.844-4C>A
|
rs3734099
|
0.17712
|
NM_020458.4(TTC7A):c.798G>A (p.Glu266=)
|
rs17480869
|
0.17316
|
NM_000431.4(MVK):c.510C>T (p.Asp170=)
|
rs2287218
|
0.17165
|
NM_004946.3(DOCK2):c.1212C>A (p.Thr404=)
|
rs2112703
|
0.16933
|
NM_206937.2(LIG4):c.26C>T (p.Thr9Ile)
|
rs1805388
|
0.16468
|
NM_001083116.3(PRF1):c.822C>T (p.Ala274=)
|
rs885821
|
0.16394
|
NM_153006.3(NAGS):c.1086T>C (p.Phe362=)
|
rs55708447
|
0.16339
|
NM_001369369.1(FOXN1):c.1135+8C>T
|
rs2286521
|
0.15430
|
NM_032790.4(ORAI1):c.546C>T (p.Ile182=)
|
rs3741595
|
0.14694
|
NM_001290043.2(TAP2):c.1135G>A (p.Val379Ile)
|
rs1800454
|
0.14502
|
NM_030662.4(MAP2K2):c.453C>T (p.Asp151=)
|
rs17851657
|
0.13902
|
NM_000416.3(IFNGR1):c.1050T>G (p.Ser350=)
|
rs11914
|
0.12487
|
NM_014017.4(LAMTOR2):c.111C>T (p.Tyr37=)
|
rs7541
|
0.11940
|
NM_152564.5(VPS13B):c.10219G>A (p.Gly3407Arg)
|
rs6468694
|
0.11916
|
NM_002029.4(FPR1):c.568A>T (p.Arg190Trp)
|
rs5030880
|
0.11833
|
NM_203447.4(DOCK8):c.187G>A (p.Asp63Asn)
|
rs3209441
|
0.11431
|
NM_000431.4(MVK):c.155G>A (p.Ser52Asn)
|
rs7957619
|
0.11415
|
NM_005609.4(PYGM):c.1827+7A>G
|
rs532747
|
0.10554
|
NM_001283009.2(RTEL1):c.3499+5G>T
|
rs41309931
|
0.10067
|
NM_147686.4(TRAF3IP2):c.28G>A (p.Asp10Asn)
|
rs33980500
|
0.09825
|
NM_001369369.1(FOXN1):c.852T>C (p.Leu284=)
|
rs12449554
|
0.08836
|
NM_001243133.2(NLRP3):c.1302C>T (p.Ser434=)
|
rs34298354
|
0.08679
|
NM_001369369.1(FOXN1):c.205C>T (p.Arg69Cys)
|
rs2071587
|
0.07832
|
NM_000448.3(RAG1):c.2880A>G (p.Ala960=)
|
rs1980131
|
0.07643
|
NM_001283009.2(RTEL1):c.2112C>T (p.Asp704=)
|
rs61753459
|
0.06433
|
NM_002693.3(POLG):c.3708G>T (p.Gln1236His)
|
rs3087374
|
0.06272
|
NM_001283009.2(RTEL1):c.3891A>G (p.Pro1297=)
|
rs1056990
|
0.06020
|
NM_000417.3(IL2RA):c.516C>T (p.His172=)
|
rs2228149
|
0.05507
|
NM_000431.4(MVK):c.405G>A (p.Ser135=)
|
rs34368092
|
0.05306
|
NM_000355.4(TCN2):c.1196G>A (p.Arg399Gln)
|
rs4820889
|
0.05200
|
NM_144687.4(NLRP12):c.1206C>G (p.Phe402Leu)
|
rs34971363
|
0.05162
|
NM_147686.4(TRAF3IP2):c.220C>T (p.Arg74Trp)
|
rs13190932
|
0.05042
|
NM_206937.2(LIG4):c.8C>T (p.Ala3Val)
|
rs1805389
|
0.04996
|
NM_004946.3(DOCK2):c.843+7G>A
|
rs72841138
|
0.04984
|
NM_004946.3(DOCK2):c.2352A>G (p.Gln784=)
|
rs13155521
|
0.04295
|
NM_005263.5(GFI1):c.107G>A (p.Ser36Asn)
|
rs34631763
|
0.04129
|
NM_000355.4(TCN2):c.1127T>C (p.Leu376Ser)
|
rs1131603
|
0.03712
|
NM_005343.4(HRAS):c.-10C>T
|
rs41294870
|
0.03593
|
NM_006846.4(SPINK5):c.1851T>C (p.Ala617=)
|
rs17718737
|
0.03431
|
NM_006846.4(SPINK5):c.316G>A (p.Asp106Asn)
|
rs17860502
|
0.03121
|
NM_052872.4(IL17F):c.463G>A (p.Val155Ile)
|
rs11465553
|
0.03070
|
NM_000081.4(LYST):c.7137A>C (p.Leu2379=)
|
rs61738992
|
0.02884
|
NM_002115.3(HK3):c.841G>A (p.Gly281Arg)
|
rs35610191
|
0.02557
|
NM_004371.4(COPA):c.1741C>T (p.Leu581=)
|
rs79304843
|
0.02550
|
NM_006846.4(SPINK5):c.2915A>G (p.His972Arg)
|
rs17705005
|
0.02442
|
NM_176869.3(PPA2):c.64A>G (p.Thr22Ala)
|
rs35571699
|
0.02096
|
NM_144736.5(NDUFAF7):c.50G>A (p.Arg17His)
|
rs72875762
|
0.01764
|
NM_002004.4(FDPS):c.1091T>C (p.Val364Ala)
|
rs41314549
|
0.01641
|
NM_003982.4(SLC7A7):c.272C>T (p.Ala91Val)
|
rs11568438
|
0.01617
|
NM_018035.3(DMAC2):c.688G>A (p.Glu230Lys)
|
rs2231943
|
0.01583
|
NM_012241.5(SIRT5):c.857+3529A>T
|
rs41273886
|
0.01542
|
NM_152558.5(IQCE):c.212G>A (p.Arg71Gln)
|
rs61736920
|
0.01521
|
NM_018060.4(IARS2):c.23G>T (p.Arg8Leu)
|
rs149324758
|
0.01481
|
NM_000355.4(TCN2):c.265T>C (p.Phe89Leu)
|
rs35915865
|
0.01306
|
NM_000535.7(PMS2):c.52A>G (p.Ile18Val)
|
rs63750123
|
0.00861
|
NM_152564.5(VPS13B):c.2485G>A (p.Ala829Thr)
|
rs61753721
|
0.00820
|
NM_004996.4(ABCC1):c.1299G>T (p.Arg433Ser)
|
rs60782127
|
0.00769
|
NM_014889.4(PITRM1):c.2647C>T (p.Leu883Phe)
|
rs71477812
|
0.00759
|
NM_000215.4(JAK3):c.2164G>A (p.Val722Ile)
|
rs3213409
|
0.00743
|
NM_001036.6(RYR3):c.14110G>A (p.Glu4704Lys)
|
rs182257230
|
0.00733
|
NM_004393.6(DAG1):c.259A>G (p.Ile87Val)
|
rs116717961
|
0.00640
|
NM_198529.4(EFCAB5):c.42+1G>A
|
rs201197242
|
0.00559
|
NM_002562.6(P2RX7):c.125+1G>T
|
rs35933842
|
0.00535
|
NM_000243.3(MEFV):c.2084A>G (p.Lys695Arg)
|
rs104895094
|
0.00506
|
NM_017671.5(FERMT1):c.1600G>A (p.Ala534Thr)
|
rs2232078
|
0.00503
|
NM_017888.3(ACSM5):c.1157A>C (p.Lys386Thr)
|
rs148243446
|
0.00490
|
NM_182588.3(RGPD4):c.1335G>A (p.Trp445Ter)
|
rs1306583979
|
0.00444
|
NR_163193.1(TCP10):n.1018G>A
|
rs140649985
|
0.00424
|
NM_006618.5(KDM5B):c.4145G>A (p.Arg1382Gln)
|
rs34216958
|
0.00411
|
NM_001145004.2(GOLGA6L6):c.2038T>G (p.Trp680Gly)
|
rs4932676
|
0.00383
|
NM_001145263.2(NCOA4):c.1340A>G (p.Lys447Arg)
|
rs61754798
|
0.00371
|
NM_020117.11(LARS1):c.3077A>G (p.Tyr1026Cys)
|
rs34823161
|
0.00369
|
NM_153460.4(IL17RC):c.952G>A (p.Ala318Thr)
|
rs145516404
|
0.00366
|
NM_003238.6(TGFB2):c.619G>C (p.Val207Leu)
|
rs10482810
|
0.00359
|
NR_163193.1(TCP10):n.943C>T
|
rs200948850
|
0.00350
|
NM_000053.4(ATP7B):c.2175G>A (p.Arg725=)
|
rs61733684
|
0.00329
|
NM_030930.4(UNC93B1):c.393-10C>T
|
rs117183629
|
0.00314
|
NM_000053.4(ATP7B):c.2355+13T>G
|
rs139211339
|
0.00293
|
NM_033540.3(MFN1):c.677G>A (p.Arg226Gln)
|
rs143476739
|
0.00265
|
NM_014611.3(MDN1):c.16547C>T (p.Ala5516Val)
|
rs34750131
|
0.00257
|
NM_000071.3(CBS):c.1105C>T (p.Arg369Cys)
|
rs117687681
|
0.00255
|
NM_001036.6(RYR3):c.7812C>G (p.Asn2604Lys)
|
rs41279214
|
0.00237
|
NM_001037.5(SCN1B):c.448+193G>A
|
rs66876876
|
0.00227
|
NM_001330311.2(DVL1):c.1366A>G (p.Thr456Ala)
|
rs140107023
|
0.00213
|
NM_058216.3(RAD51C):c.790G>A (p.Gly264Ser)
|
rs147241704
|
0.00207
|
NM_004260.4(RECQL4):c.2817G>A (p.Ala939=)
|
rs202045203
|
0.00203
|
NM_206967.3(C16orf74):c.84_103del (p.Asn29fs)
|
rs767753044
|
0.00200
|
NM_152781.4(HEATR9):c.400C>T (p.Arg134Ter)
|
rs116191233
|
0.00190
|
NM_005609.4(PYGM):c.330C>T (p.Asp110=)
|
rs114742918
|
0.00189
|
NM_007194.4(CHEK2):c.1100del (p.Thr367fs)
|
rs555607708
|
0.00181
|
NM_201596.3(CACNB2):c.1511C>T (p.Thr504Ile)
|
rs143326262
|
0.00181
|
NM_004655.4(AXIN2):c.2272G>A (p.Ala758Thr)
|
rs145007501
|
0.00179
|
NM_004817.4(TJP2):c.185C>T (p.Thr62Met)
|
rs138241615
|
0.00168
|
NM_080680.3(COL11A2):c.1615C>T (p.Arg539Trp)
|
rs145499142
|
0.00162
|
NM_001354604.2(MITF):c.1273G>A (p.Glu425Lys)
|
rs149617956
|
0.00160
|
NM_001036.6(RYR3):c.6617A>C (p.Asn2206Thr)
|
rs181264765
|
0.00150
|
NM_006231.4(POLE):c.861T>A (p.Asp287Glu)
|
rs139075637
|
0.00122
|
NM_001199107.2(TBC1D24):c.169C>T (p.Arg57Cys)
|
rs202162520
|
0.00121
|
NM_000249.4(MLH1):c.-7C>T
|
rs104894994
|
0.00115
|
NM_001130987.2(DYSF):c.2956A>T (p.Met986Leu)
|
rs144636654
|
0.00112
|
NM_000249.4(MLH1):c.-28A>G
|
rs56198082
|
0.00110
|
NM_001144978.3(MTHFD2L):c.482G>A (p.Gly161Glu)
|
rs144442266
|
0.00109
|
NM_024753.5(TTC21B):c.2587C>T (p.Arg863Trp)
|
rs34489989
|
0.00108
|
NM_000094.4(COL7A1):c.5819C>T (p.Pro1940Leu)
|
rs149267939
|
0.00098
|
NM_032683.3(MPV17L2):c.32G>A (p.Arg11His)
|
rs186786292
|
0.00094
|
NM_001360.3(DHCR7):c.199G>A (p.Ala67Thr)
|
rs143999854
|
0.00093
|
NM_014391.3(ANKRD1):c.197G>A (p.Arg66Gln)
|
rs150797476
|
0.00092
|
NM_004104.5(FASN):c.1850C>T (p.Pro617Leu)
|
rs45444391
|
0.00085
|
NM_000051.4(ATM):c.3925G>A (p.Ala1309Thr)
|
rs149711770
|
0.00081
|
NM_002693.3(POLG):c.2243G>C (p.Trp748Ser)
|
rs113994097
|
0.00081
|
NM_006294.5(UQCRB):c.249A>C (p.Lys83Asn)
|
rs145828292
|
0.00078
|
NM_019030.4(DHX29):c.629A>G (p.Tyr210Cys)
|
rs149543515
|
0.00078
|
NM_032776.3(JMJD1C):c.1120G>C (p.Asp374His)
|
rs200016210
|
0.00061
|
NM_182916.3(TRNT1):c.1292T>C (p.Ile431Thr)
|
rs150984011
|
0.00061
|
NM_002691.4(POLD1):c.883G>A (p.Val295Met)
|
rs199545019
|
0.00060
|
NM_005422.4(TECTA):c.2444C>T (p.Thr815Met)
|
rs111759871
|
0.00060
|
NM_021930.6(RINT1):c.388G>A (p.Ala130Thr)
|
rs138345617
|
0.00060
|
NM_001943.5(DSG2):c.437G>T (p.Arg146Leu)
|
rs113451409
|
0.00054
|
NM_052850.4(GADD45GIP1):c.26G>A (p.Arg9His)
|
rs375539782
|
0.00049
|
NM_173630.4(RTTN):c.2255C>T (p.Pro752Leu)
|
rs35424122
|
0.00043
|
NM_007208.4(MRPL3):c.1033A>G (p.Ile345Val)
|
rs143176048
|
0.00041
|
NM_001036.6(RYR3):c.9581G>A (p.Arg3194His)
|
rs377341748
|
0.00037
|
NM_001079.4(ZAP70):c.1645A>G (p.Met549Val)
|
rs150950017
|
0.00036
|
NM_032620.4(GTPBP3):c.1057G>A (p.Val353Ile)
|
rs77401427
|
0.00036
|
NM_007194.4(CHEK2):c.1312G>T (p.Asp438Tyr)
|
rs200050883
|
0.00034
|
NM_001770.6(CD19):c.527C>T (p.Pro176Leu)
|
rs148200569
|
0.00033
|
NM_138995.5(MYO3B):c.800A>G (p.Asn267Ser)
|
rs34509373
|
0.00032
|
NM_004688.3(NMI):c.912C>A (p.Tyr304Ter)
|
rs150664393
|
0.00031
|
NM_014946.4(SPAST):c.1735A>C (p.Asn579His)
|
rs144594804
|
0.00031
|
NM_001036.6(RYR3):c.9799C>T (p.Pro3267Ser)
|
rs182972491
|
0.00029
|
NM_004104.5(FASN):c.6155G>C (p.Gly2052Ala)
|
rs780846548
|
0.00028
|
NM_004329.3(BMPR1A):c.1433G>A (p.Arg478His)
|
rs113849804
|
0.00025
|
NM_144991.3(TSPEAR):c.542+15G>A
|
rs587599565
|
0.00025
|
NM_001278669.2(NFATC1):c.860C>T (p.Pro287Leu)
|
rs200533002
|
0.00024
|
NM_020925.4(CACHD1):c.293G>A (p.Arg98His)
|
rs201614737
|
0.00022
|
NM_138395.4(MARS2):c.697A>G (p.Ile233Val)
|
rs150082953
|
0.00022
|
NM_019078.2(UGT1A5):c.695del (p.Ala232fs)
|
rs369685158
|
0.00021
|
NM_024675.4(PALB2):c.298C>T (p.Leu100Phe)
|
rs61756147
|
0.00021
|
NM_203447.4(DOCK8):c.2275G>A (p.Val759Met)
|
rs148693111
|
0.00021
|
NM_021228.3(SCAF1):c.457G>T (p.Ala153Ser)
|
rs138792343
|
0.00020
|
NM_001814.6(CTSC):c.259A>G (p.Ile87Val)
|
rs45447392
|
0.00019
|
NM_198443.2(NRN1L):c.345C>A (p.Cys115Ter)
|
rs143671493
|
0.00019
|
NM_000051.4(ATM):c.7187C>G (p.Thr2396Ser)
|
rs370559102
|
0.00017
|
NM_012330.4(KAT6B):c.2448G>A (p.Thr816=)
|
rs372149429
|
0.00017
|
NM_005245.4(FAT1):c.9095T>C (p.Ile3032Thr)
|
rs34805028
|
0.00016
|
NM_138441.3(CGAS):c.265_266dup (p.Gln89fs)
|
rs749545076
|
0.00016
|
NM_003900.5(SQSTM1):c.352C>T (p.Pro118Ser)
|
rs200152247
|
0.00015
|
NM_024721.5(ZFHX4):c.5362G>A (p.Val1788Ile)
|
rs200415399
|
0.00015
|
NM_001002913.3(PTRH1):c.20T>C (p.Leu7Ser)
|
rs538247883
|
0.00014
|
NM_002485.5(NBN):c.456G>A (p.Met152Ile)
|
rs201816949
|
0.00014
|
NM_014008.5(CCDC22):c.1402C>G (p.Arg468Gly)
|
rs781907239
|
0.00014
|
NM_002907.4(RECQL):c.86C>T (p.Thr29Met)
|
rs145067169
|
0.00013
|
NM_017872.5(THG1L):c.164T>C (p.Val55Ala)
|
rs201920319
|
0.00012
|
NM_053025.4(MYLK):c.2060C>T (p.Pro687Leu)
|
rs144923036
|
0.00012
|
NM_000136.3(FANCC):c.553C>T (p.Arg185Ter)
|
rs121917783
|
0.00011
|
NM_001040142.2(SCN2A):c.5752C>T (p.Arg1918Cys)
|
rs139899756
|
0.00011
|
NM_001065.4(TNFRSF1A):c.1328G>T (p.Gly443Val)
|
rs201062001
|
0.00011
|
NM_001304993.2(SDSL):c.360G>A (p.Trp120Ter)
|
rs200347609
|
0.00011
|
NM_006231.4(POLE):c.6658-7C>A
|
rs531482240
|
0.00011
|
NM_001939.3(DRP2):c.1927G>A (p.Ala643Thr)
|
rs774673009
|
0.00010
|
NM_003465.3(CHIT1):c.1125C>A (p.Tyr375Ter)
|
rs149987600
|
0.00010
|
NM_001394065.1(CCDC190):c.88C>T (p.Gln30Ter)
|
rs756079140
|
0.00009
|
NM_007194.4(CHEK2):c.349A>G (p.Arg117Gly)
|
rs28909982
|
0.00009
|
NM_007078.3(LDB3):c.715G>A (p.Val239Ile)
|
rs201417512
|
0.00008
|
NM_000051.4(ATM):c.749G>A (p.Arg250Gln)
|
rs56123940
|
0.00007
|
NM_001999.4(FBN2):c.3839C>T (p.Ser1280Leu)
|
rs200481467
|
0.00007
|
NM_006248.4(PRB2):c.511C>T (p.Arg171Ter)
|
rs201606820
|
0.00007
|
NM_000051.4(ATM):c.7271T>G (p.Val2424Gly)
|
rs28904921
|
0.00006
|
NM_000249.4(MLH1):c.955G>A (p.Glu319Lys)
|
rs63750796
|
0.00006
|
NM_001105206.3(LAMA4):c.1960-3T>C
|
rs373682270
|
0.00006
|
NM_001199267.2(DGKZ):c.554G>A (p.Arg185Gln)
|
rs372061661
|
0.00006
|
NM_001367479.1(DNAH14):c.11777-2A>G
|
rs984710416
|
0.00006
|
NM_001747.4(CAPG):c.454G>T (p.Glu152Ter)
|
rs142762000
|
0.00006
|
NM_014915.3(ANKRD26):c.4636G>C (p.Asp1546His)
|
rs753924410
|
0.00006
|
NM_000136.3(FANCC):c.1406C>T (p.Thr469Met)
|
rs149917017
|
0.00005
|
NM_005477.3(HCN4):c.3460C>T (p.Arg1154Trp)
|
rs200896834
|
0.00005
|
NM_014370.4(SRPK3):c.1337T>G (p.Ile446Ser)
|
rs1557068452
|
0.00005
|
NM_014611.3(MDN1):c.4613A>C (p.Asn1538Thr)
|
rs202131758
|
0.00005
|
NM_000455.5(STK11):c.316C>T (p.Arg106Trp)
|
rs587782115
|
0.00004
|
NM_000692.5(ALDH1B1):c.319C>T (p.Arg107Cys)
|
rs770857076
|
0.00004
|
NM_001267550.2(TTN):c.5582G>A (p.Arg1861His)
|
rs140914855
|
0.00004
|
NM_003721.4(RFXANK):c.639C>T (p.Gly213=)
|
rs745918077
|
0.00004
|
NM_007250.5(KLF8):c.646+3A>G
|
rs758595312
|
0.00004
|
NM_007294.4(BRCA1):c.4735C>G (p.Pro1579Ala)
|
rs145466894
|
0.00004
|
NM_016077.5(PTRH2):c.101G>A (p.Arg34Gln)
|
rs763600816
|
0.00004
|
NM_022914.2(ACD):c.137delG (p.Arg46Leufs)
|
rs753666055
|
0.00004
|
NM_033109.5(PNPT1):c.745G>A (p.Val249Met)
|
rs774197508
|
0.00004
|
NM_000059.4(BRCA2):c.4357A>G (p.Lys1453Glu)
|
rs397507330
|
0.00003
|
NM_000256.3(MYBPC3):c.1624+4A>T
|
rs397515916
|
0.00003
|
NM_000465.4(BARD1):c.2171C>T (p.Ala724Val)
|
rs587782662
|
0.00003
|
NM_000535.7(PMS2):c.924G>C (p.Glu308Asp)
|
rs114185660
|
0.00003
|
NM_001031679.3(MSRB3):c.80C>T (p.Ser27Leu)
|
rs370812570
|
0.00003
|
NM_001103.4(ACTN2):c.2555G>A (p.Arg852Gln)
|
rs727502888
|
0.00003
|
NM_001256317.3(TMPRSS3):c.566A>T (p.Tyr189Phe)
|
rs781338726
|
0.00003
|
NM_001822.7(CHN1):c.1301C>T (p.Ala434Val)
|
rs778517881
|
0.00003
|
NM_006231.4(POLE):c.1676G>A (p.Arg559Gln)
|
rs766276875
|
0.00003
|
NM_014974.3(DIP2C):c.692G>A (p.Arg231Gln)
|
rs756894472
|
0.00003
|
NM_020318.3(PAPPA2):c.1732C>T (p.Arg578Ter)
|
rs375941290
|
0.00003
|
NM_020746.5(MAVS):c.1189G>A (p.Ala397Thr)
|
rs778085486
|
0.00003
|
NM_020925.4(CACHD1):c.3244+3A>G
|
rs750499224
|
0.00003
|
NM_024422.6(DSC2):c.1663+4A>G
|
rs369849387
|
0.00003
|
NM_032043.3(BRIP1):c.2285G>A (p.Arg762His)
|
rs200960251
|
0.00003
|
NM_133497.4(KCNV2):c.148A>C (p.Asn50His)
|
rs757537568
|
0.00003
|
NM_152305.3(POGLUT1):c.211G>A (p.Gly71Ser)
|
rs1001425015
|
0.00003
|
NM_000051.4(ATM):c.8120C>G (p.Ser2707Cys)
|
rs748016261
|
0.00002
|
NM_000051.4(ATM):c.8129A>G (p.Lys2710Arg)
|
rs587782001
|
0.00002
|
NM_000059.4(BRCA2):c.1409A>C (p.Glu470Ala)
|
rs750341436
|
0.00002
|
NM_001036.6(RYR3):c.10961C>T (p.Ala3654Val)
|
rs1462103365
|
0.00002
|
NM_001079.4(ZAP70):c.342C>T (p.Val114=)
|
rs1008750552
|
0.00002
|
NM_001160148.2(DDHD1):c.1277A>G (p.Lys426Arg)
|
rs764461965
|
0.00002
|
NM_001267550.2(TTN):c.99581C>T (p.Pro33194Leu)
|
rs140025425
|
0.00002
|
NM_001470.4(GABBR1):c.1477G>C (p.Val493Leu)
|
rs980473553
|
0.00002
|
NM_005462.5(MAGEC1):c.984_1086del (p.Ser328fs)
|
rs1556442387
|
0.00002
|
NM_006231.4(POLE):c.5468G>A (p.Arg1823His)
|
rs767747669
|
0.00002
|
NM_017514.5(PLXNA3):c.1985C>T (p.Thr662Met)
|
rs1343189326
|
0.00002
|
NM_020247.5(COQ8A):c.1717G>A (p.Asp573Asn)
|
rs1026198961
|
0.00002
|
NM_145199.3(LIPT1):c.713A>G (p.Tyr238Cys)
|
rs187886723
|
0.00002
|
NM_152891.3(PRSS33):c.531G>A (p.Trp177Ter)
|
rs911248455
|
0.00002
|
NM_172107.4(KCNQ2):c.691-13G>A
|
rs547887704
|
0.00002
|
NM_173728.4(ARHGEF15):c.1673A>C (p.Gln558Pro)
|
rs924531335
|
0.00002
|
NM_175875.5(SIX5):c.1464C>G (p.Pro488=)
|
rs753759460
|
0.00002
|
NM_000051.4(ATM):c.1339C>T (p.Arg447Ter)
|
rs587779815
|
0.00001
|
NM_000051.4(ATM):c.1880T>G (p.Phe627Cys)
|
rs546087885
|
0.00001
|
NM_000051.4(ATM):c.496+3A>G
|
rs876658311
|
0.00001
|
NM_000051.4(ATM):c.5892G>C (p.Lys1964Asn)
|
rs786202728
|
0.00001
|
NM_000051.4(ATM):c.8393C>A (p.Ala2798Asp)
|
rs772992098
|
0.00001
|
NM_000059.4(BRCA2):c.2026T>C (p.Cys676Arg)
|
rs397507280
|
0.00001
|
NM_000059.4(BRCA2):c.2T>G (p.Met1Arg)
|
rs80358547
|
0.00001
|
NM_000059.4(BRCA2):c.4535G>A (p.Arg1512His)
|
rs80358685
|
0.00001
|
NM_000059.4(BRCA2):c.8527A>G (p.Asn2843Asp)
|
rs876660403
|
0.00001
|
NM_000090.4(COL3A1):c.203A>G (p.Asp68Gly)
|
rs376603102
|
0.00001
|
NM_000251.3(MSH2):c.1898T>C (p.Ile633Thr)
|
rs864622093
|
0.00001
|
NM_000251.3(MSH2):c.2164G>A (p.Val722Ile)
|
rs587781996
|
0.00001
|
NM_000257.4(MYH7):c.4489A>T (p.Thr1497Ser)
|
rs928227757
|
0.00001
|
NM_000465.4(BARD1):c.1990A>G (p.Arg664Gly)
|
rs1064795138
|
0.00001
|
NM_000535.7(PMS2):c.608C>G (p.Thr203Ser)
|
rs779946576
|
0.00001
|
NM_000546.6(TP53):c.685T>C (p.Cys229Arg)
|
rs1064794312
|
0.00001
|
NM_000827.4(GRIA1):c.1988C>T (p.Thr663Met)
|
rs752447548
|
0.00001
|
NM_001033566.3(RHOT1):c.1862+29G>A
|
rs995710160
|
0.00001
|
NM_001098.3(ACO2):c.183G>A (p.Arg61=)
|
rs773989143
|
0.00001
|
NM_001267550.2(TTN):c.105805del (p.Thr35269fs)
|
rs752787097
|
0.00001
|
NM_001267550.2(TTN):c.4700T>C (p.Ile1567Thr)
|
rs145957227
|
0.00001
|
NM_001354604.2(MITF):c.622G>A (p.Glu208Lys)
|
rs768503905
|
0.00001
|
NM_001367534.1(CAMK2G):c.286G>A (p.Gly96Arg)
|
rs772531683
|
0.00001
|
NM_001371272.1(RAB11FIP5):c.3869G>A (p.Arg1290Gln)
|
rs868507082
|
0.00001
|
NM_001386795.1(DTNA):c.140A>G (p.Lys47Arg)
|
rs1298586276
|
0.00001
|
NM_001478.5(B4GALNT1):c.1162_1164dup (p.Glu388dup)
|
rs1333871469
|
0.00001
|
NM_002471.4(MYH6):c.3860G>A (p.Gly1287Glu)
|
rs780857713
|
0.00001
|
NM_002691.4(POLD1):c.2911G>A (p.Glu971Lys)
|
rs897259743
|
0.00001
|
NM_004360.5(CDH1):c.370C>T (p.Arg124Cys)
|
rs748086082
|
0.00001
|
NM_007194.4(CHEK2):c.565A>G (p.Ile189Val)
|
rs587780185
|
0.00001
|
NM_007294.4(BRCA1):c.1898C>T (p.Pro633Leu)
|
rs398122647
|
0.00001
|
NM_007294.4(BRCA1):c.1922T>C (p.Ile641Thr)
|
rs730881474
|
0.00001
|
NM_014365.3(HSPB8):c.208C>T (p.Pro70Ser)
|
rs924785682
|
0.00001
|
NM_014689.3(DOCK10):c.279C>T (p.Tyr93=)
|
rs1701350158
|
0.00001
|
NM_015021.3(ZNF292):c.1408A>G (p.Ile470Val)
|
rs1166797338
|
0.00001
|
NM_016026.4(RDH11):c.454+2T>A
|
rs1364619920
|
0.00001
|
NM_017739.4(POMGNT1):c.908C>T (p.Pro303Leu)
|
rs753453050
|
0.00001
|
NM_018398.3(CACNA2D3):c.3071C>T (p.Pro1024Leu)
|
rs1447772102
|
0.00001
|
NM_024721.5(ZFHX4):c.7316C>G (p.Pro2439Arg)
|
rs1354750315
|
0.00001
|
NM_032043.3(BRIP1):c.1441G>T (p.Gly481Cys)
|
rs587780229
|
0.00001
|
NM_032043.3(BRIP1):c.3464G>A (p.Gly1155Glu)
|
rs45603843
|
0.00001
|
NM_133261.3(GIPC3):c.192G>A (p.Lys64=)
|
rs876657466
|
0.00001
|
NM_153026.3(PRICKLE1):c.1393A>G (p.Lys465Glu)
|
rs780931107
|
0.00001
|
NM_173728.4(ARHGEF15):c.868G>A (p.Ala290Thr)
|
rs199835687
|
0.00001
|
NM_177963.4(SYT12):c.791C>T (p.Pro264Leu)
|
rs201856506
|
0.00001
|
GRCh37/hg19 10q11.22-11.23(chr10:46321318-51595050)x1
|
|
|
GRCh37/hg19 10q21.3(chr10:68295495-68526163)x1
|
|
|
GRCh37/hg19 10q24.31-24.32(chr10:102969339-103234142)x3
|
|
|
GRCh37/hg19 10q24.32(chr10:103421890-103458708)x3
|
|
|
GRCh37/hg19 11p15.5-15.4(chr11:230615-5525355)x3
|
|
|
GRCh37/hg19 11q12.1(chr11:57112299-57871866)x3
|
|
|
GRCh37/hg19 11q12.1(chr11:58237819-58800374)x3
|
|
|
GRCh37/hg19 11q13.2(chr11:66760918-67015469)x3
|
|
|
GRCh37/hg19 12q24.32-24.33(chr12:129156032-129684048)x3
|
|
|
GRCh37/hg19 13q12.3-13.3(chr13:31841196-36667007)x3
|
|
|
GRCh37/hg19 13q13.1(chr13:32788224-32896665)x3
|
|
|
GRCh37/hg19 13q14.3(chr13:51786657-54834098)x1
|
|
|
GRCh37/hg19 14q11.2-21.1(chr14:20511672-42881888)x3
|
|
|
GRCh37/hg19 14q23.1-23.2(chr14:61701451-62960957)
|
|
|
GRCh37/hg19 14q32.31-32.32(chr14:102871245-103645036)x4
|
|
|
GRCh37/hg19 14q32.33(chr14:106335742-106732385)x3
|
|
|
GRCh37/hg19 14q32.33(chr14:106763887-107208510)x3
|
|
|
GRCh37/hg19 15q11.2(chr15:22770421-23209654)x1
|
|
|
GRCh37/hg19 15q13.1-13.2(chr15:28958779-30386553)x1
|
|
|
GRCh37/hg19 15q13.3(chr15:32003537-32444044)x3
|
|
|
GRCh37/hg19 15q13.3(chr15:32003537-32446830)x3
|
|
|
GRCh37/hg19 15q15.3(chr15:43892807-43895810)x1
|
|
|
GRCh37/hg19 15q21.2(chr15:51673125-51942596)x1
|
|
|
GRCh37/hg19 15q24.1-24.2(chr15:72958539-76063285)x1
|
|
|
GRCh37/hg19 15q26.1(chr15:91422650-91497515)x1
|
|
|
GRCh37/hg19 16p11.2(chr16:29678569-30198121)x1
|
|
|
GRCh37/hg19 16p12.2(chr16:21571710-22428364)x3
|
|
|
GRCh37/hg19 16p12.2(chr16:21596299-21787031)x1
|
|
|
GRCh37/hg19 16p12.2(chr16:21839340-22552780)
|
|
|
GRCh37/hg19 16p12.2-11.2(chr16:21312200-29646379)x3
|
|
|
GRCh37/hg19 16p13.11-12.3(chr16:15494600-18141051)x1
|
|
|
GRCh37/hg19 16p13.11-12.3(chr16:15507184-18141051)x3
|
|
|
GRCh37/hg19 16p13.12(chr16:12706347-12893819)x1
|
|
|
GRCh37/hg19 16p13.3(chr16:6749657-7122769)x3
|
|
|
GRCh37/hg19 16q21-24.3(chr16:61524229-90155062)x3
|
|
|
GRCh37/hg19 16q24.2-24.3(chr16:87219866-89561087)x1
|
|
|
GRCh37/hg19 16q24.2-24.3(chr16:88317240-89079407)x3
|
|
|
GRCh37/hg19 16q24.3(chr16:90089006-90274440)x3
|
|
|
GRCh37/hg19 17p11.2(chr17:19515340-19536015)x1
|
|
|
GRCh37/hg19 17p13.2(chr17:3543270-4045261)x3
|
|
|
GRCh37/hg19 17p13.2(chr17:3995902-4511207)x3
|
|
|
GRCh37/hg19 17q21.31(chr17:42326687-42340104)x3
|
|
|
GRCh37/hg19 17q21.31(chr17:44216013-44275737)x1
|
|
|
GRCh37/hg19 17q23.1(chr17:58075497-58247438)x1
|
|
|
GRCh37/hg19 19p13.2(chr19:10642984-12810067)
|
|
|
GRCh37/hg19 19q13.32-13.42(chr19:47939842-54626871)
|
|
|
GRCh37/hg19 19q13.33(chr19:49640430-49703884)x3
|
|
|
GRCh37/hg19 1p13.3(chr1:109428017-109779697)x3
|
|
|
GRCh37/hg19 1p32.3(chr1:51105133-51347658)x1
|
|
|
GRCh37/hg19 1p34.3-34.2(chr1:40097132-40236108)x3
|
|
|
GRCh37/hg19 1q21.1(chr1:145291030-145735385)x3
|
|
|
GRCh37/hg19 1q21.1(chr1:145625692-145770627)x3
|
|
|
GRCh37/hg19 1q21.1-21.2(chr1:146347096-147824207)x1
|
|
|
GRCh37/hg19 1q21.1-21.2(chr1:146507518-147824207)x1
|
|
|
GRCh37/hg19 1q31.3-32.2(chr1:194356425-210988710)x3
|
|
|
GRCh37/hg19 1q41(chr1:217923165-218542059)x1
|
|
|
GRCh37/hg19 1q42.11-43(chr1:224230307-243181599)x3
|
|
|
GRCh37/hg19 1q44(chr1:246367970-246639585)x1
|
|
|
GRCh37/hg19 1q44(chr1:246530458-246608001)x1
|
|
|
GRCh37/hg19 1q44(chr1:246678242-246797859)x3
|
|
|
GRCh37/hg19 20p12.3(chr20:7103757-8558193)x3
|
|
|
GRCh37/hg19 21q22.11(chr21:34281910-35748170)x1
|
|
|
GRCh37/hg19 21q22.11-22.12(chr21:35734654-35905168)x3
|
|
|
GRCh37/hg19 21q22.11-22.12(chr21:35734654-35908414)x3
|
|
|
GRCh37/hg19 22q11.21(chr22:19058829-19163604)x1
|
|
|
GRCh37/hg19 22q11.21(chr22:21119425-21431174)x3
|
|
|
GRCh37/hg19 22q11.23-12.1(chr22:24652837-25970705)x3
|
|
|
GRCh37/hg19 22q12.3(chr22:36831028-37009180)x3
|
|
|
GRCh37/hg19 22q13.2(chr22:41742988-41946225)x3
|
|
|
GRCh37/hg19 2p16.1(chr2:56141953-56942624)x3
|
|
|
GRCh37/hg19 2p23.3(chr2:24235780-25700427)x1
|
|
|
GRCh37/hg19 2p25.2-25.1(chr2:4500550-7378329)x1
|
|
|
GRCh37/hg19 2q13(chr2:111409518-113127751)x3
|
|
|
GRCh37/hg19 2q14.3(chr2:127864458-128083342)x3
|
|
|
GRCh37/hg19 2q23.3-24.2(chr2:152967964-160089210)x3
|
|
|
GRCh37/hg19 2q31.1(chr2:174673094-177275625)x3
|
|
|
GRCh37/hg19 2q32.1(chr2:183764930-187399282)x1
|
|
|
GRCh37/hg19 3p14.1(chr3:68461188-69158250)x1
|
|
|
GRCh37/hg19 3p25.1(chr3:14188805-14189498)x1
|
|
|
GRCh37/hg19 3p26.3(chr3:1125700-1301859)x3
|
|
|
GRCh37/hg19 3p26.3(chr3:282750-2091065)x1
|
|
|
GRCh37/hg19 3q29(chr3:194161542-194998084)x3
|
|
|
GRCh37/hg19 3q29(chr3:196381502-196771786)x3
|
|
|
GRCh37/hg19 4q22.1(chr4:92188768-92235446)x3
|
|
|
GRCh37/hg19 4q31.3-32.1(chr4:154928902-155707223)x3
|
|
|
GRCh37/hg19 4q35.2(chr4:187853427-189952978)x1
|
|
|
GRCh37/hg19 5q33.1(chr5:151271611-151328403)x3
|
|
|
GRCh37/hg19 5q33.3-34(chr5:155970607-162450579)x1
|
|
|
GRCh37/hg19 6q22.31(chr6:119243634-126078530)x1
|
|
|
GRCh37/hg19 6q23.3-24.1(chr6:135936688-140660269)x1
|
|
|
GRCh37/hg19 7p11.2(chr7:55973193-56012570)x3
|
|
|
GRCh37/hg19 7p14.1(chr7:38619347-40542932)x1
|
|
|
GRCh37/hg19 7p14.1(chr7:40026937-40170245)x3
|
|
|
GRCh37/hg19 7p21.3(chr7:7516346-8018481)x1
|
|
|
GRCh37/hg19 7p22.2(chr7:3543270-4045261)x3
|
|
|
GRCh37/hg19 7q11.23(chr7:75146857-75234346)x3
|
|
|
GRCh37/hg19 7q31.1(chr7:111051119-111197513)x1
|
|
|
GRCh37/hg19 7q31.1(chr7:111138678-111202263)x1
|
|
|
GRCh37/hg19 7q35-36.1(chr7:147897705-149874566)x3
|
|
|
GRCh37/hg19 7q35-36.3(chr7:143107740-156886246)x3
|
|
|
GRCh37/hg19 7q36.3(chr7:156886376-159119707)x1
|
|
|
GRCh37/hg19 8p22-12(chr8:16992973-32612724)x1
|
|
|
GRCh37/hg19 8p23.1-22(chr8:12559475-13050887)x3
|
|
|
GRCh37/hg19 9q33.1(chr9:119382179-119425090)x1
|
|
|
GRCh37/hg19 9q34.11(chr9:131184326-131503894)x1
|
|
|
GRCh37/hg19 Xp11.21(chrX:56301687-56431164)x3
|
|
|
GRCh37/hg19 Xp11.4(chrX:41772933-41777035)x1
|
|
|
GRCh37/hg19 Xp21.1(chrX:32232129-32536506)x1
|
|
|
GRCh37/hg19 Xp21.1(chrX:34628048-37181355)x0
|
|
|
GRCh37/hg19 Xp21.1(chrX:37526649-37554684)x3
|
|
|
GRCh37/hg19 Xp21.2(chrX:29417558-29938361)x3
|
|
|
GRCh37/hg19 Xp22.11(chrX:22196359-22196761)x1
|
|
|
GRCh37/hg19 Xp22.11(chrX:23351116-23530035)x3
|
|
|
GRCh37/hg19 Xp22.32-22.31(chrX:5966333-6121580)x3
|
|
|
GRCh37/hg19 Xq13.1(chrX:71401787-71617388)x2
|
|
|
GRCh37/hg19 Xq21.1(chrX:77032238-77144366)x3
|
|
|
GRCh37/hg19 Xq27.1-27.2(chrX:140159973-140609654)x1
|
|
|
GRCh37/hg19 Xq27.2(chrX:140353091-140738473)x2
|
|
|
GRCh37/hg19 Xq27.2(chrX:140353091-140738473)x3
|
|
|
GRCh37/hg19 Xq28(chrX:151903225-152027245)x3
|
|
|
GRCh37/hg19 Xq28(chrX:154773423-154797292)x0
|
|
|
GRCh38/hg38 16p11.2(chr16:28814284-29129367)x3
|
|
|
NCBI36/hg18 10p15.3-14(chr10:1-6889456)x1
|
|
|
NCBI36/hg18 16p11.2(chr16:29385560-30239515)x3
|
|
|
NCBI36/hg18 1q21.1(chr1:143639135-144458626)x3
|
|
|
NCBI36/hg18 1q41-44(chr1:214401568-247249719)
|
|
|
NCBI36/hg18 1q42.2(chr1:229779180-229879929)x3
|
|
|
NCBI36/hg18 6p12.3(chr6:45579286-46089921)x3
|
|
|
NCBI36/hg18 7q11.22(chr7:69313697-69359559)x1
|
|
|
NCBI36/hg18 9p13.2(chr9:36470667-37047553)x3
|
|
|
NC_000008.11:g.7296399T>C
|
rs201746613
|
|
NC_012920.1(MT-ATP6):m.8636T>C
|
rs2124594840
|
|
NC_012920.1(MT-ATP6):m.8806C>T
|
rs2068712160
|
|
NC_012920.1(MT-ATP6):m.8821T>A
|
rs1603221825
|
|
NC_012920.1(MT-ATP6):m.8878C>T
|
rs2068712730
|
|
NC_012920.1(MT-ATP6):m.8946A>T
|
rs879181854
|
|
NC_012920.1(MT-CO1):m.6243G>A
|
|
|
NC_012920.1(MT-CO1):m.7191T>C
|
rs1603220824
|
|
NC_012920.1(MT-CO2):m.7674T>C
|
rs1569484168
|
|
NC_012920.1(MT-CYB):m.15645T>C
|
rs1603225402
|
|
NC_012920.1(MT-CYB):m.15909A>G
|
rs1556424690
|
|
NC_012920.1(MT-CYB):m.1643A>G
|
rs1603218595
|
|
NC_012920.1(MT-CYB):m.263A>G
|
rs2853515
|
|
NC_012920.1(MT-CYB):m.5575T>C
|
rs1603220034
|
|
NC_012920.1(MT-CYB):m.5640A>G
|
rs1603220065
|
|
NC_012920.1(MT-CYB):m.750A>G
|
rs2853518
|
|
NC_012920.1(MT-ND1):m.3357G>C
|
rs1556422714
|
|
NC_012920.1(MT-ND4):m.10887A>G
|
rs1603223004
|
|
NC_012920.1(MT-ND4L):m.10491A>G
|
rs2124596211
|
|
NC_012920.1(MT-ND5):m.12499A>G
|
rs2068732035
|
|
NC_012920.1(MT-ND5):m.13547C>T
|
rs2068736660
|
|
NC_012920.1(MT-TH):m.12187C>T
|
rs2068730503
|
|
NC_012920.1(MT-TT):m.15917C>T
|
rs2068749891
|
|
NC_012920.1:m.10018A>G
|
rs1556423757
|
|
NC_012920.1:m.14706A>G
|
rs1057516070
|
|
NC_012920.1:m.15492T>C
|
rs1556424593
|
|
NC_012920.1:m.15708G>A
|
rs1556424649
|
|
NC_012920.1:m.3010G>A
|
rs3928306
|
|
NC_012920.1:m.4315A>G
|
rs876661359
|
|
NC_012920.1:m.4769A>G
|
rs3021086
|
|
NC_012920.1:m.5505A>G
|
rs1569484003
|
|
NC_012920.1:m.5561T>C
|
rs1556423009
|
|
NC_012920.1:m.8568C>T
|
rs1603221589
|
|
NC_012920.1:m.8651T>C
|
rs1556423512
|
|
NC_012920.1:m.9041A>G
|
rs879244322
|
|
NC_012920.1:m.9157G>A
|
rs1556423625
|
|
NC_012920.1:m.9813T>A
|
rs1556423727
|
|
NM_000038.6(APC):c.2624dup (p.Arg876fs)
|
rs863225330
|
|
NM_000038.6(APC):c.2845A>G (p.Met949Val)
|
rs587781348
|
|
NM_000038.6(APC):c.994C>T (p.Arg332Ter)
|
rs775126020
|
|
NM_000051.4(ATM):c.3245_3247delinsTGAT (p.His1082fs)
|
rs587776549
|
|
NM_000051.4(ATM):c.8552C>T (p.Ala2851Val)
|
rs876659701
|
|
NM_000059.4(BRCA2):c.1929del (p.Arg645fs)
|
rs80359316
|
|
NM_000059.4(BRCA2):c.2836del (p.Asp946fs)
|
rs80359358
|
|
NM_000059.4(BRCA2):c.469_470del (p.Lys157fs)
|
rs397507739
|
|
NM_000059.4(BRCA2):c.7040C>A (p.Pro2347Gln)
|
rs80358929
|
|
NM_000059.4(BRCA2):c.8614G>A (p.Glu2872Lys)
|
rs1555287788
|
|
NM_000059.4(BRCA2):c.9011A>G (p.Lys3004Arg)
|
rs587782779
|
|
NM_000077.5(CDKN2A):c.322G>A (p.Asp108Asn)
|
rs121913381
|
|
NM_000081.4(LYST):c.11268-5del
|
rs36014994
|
|
NM_000138.5(FBN1):c.374A>G (p.Asn125Ser)
|
rs2044551186
|
|
NM_000138.5(FBN1):c.6787A>C (p.Met2263Leu)
|
rs2043017749
|
|
NM_000179.3(MSH6):c.2668G>T (p.Val890Phe)
|
rs786202628
|
|
NM_000179.3(MSH6):c.2956A>G (p.Thr986Ala)
|
rs1553414327
|
|
NM_000179.3(MSH6):c.3725G>A (p.Arg1242His)
|
rs63750119
|
|
NM_000218.3(KCNQ1):c.1685+2T>C
|
rs1590081467
|
|
NM_000219.6(KCNE1):c.227_229delinsTCTA (p.Asp76fs)
|
rs1555843898
|
|
NM_000243.3(MEFV):c.414A>G (p.Gly138=)
|
rs224224
|
|
NM_000251.3(MSH2):c.128A>T (p.Tyr43Phe)
|
rs17217723
|
|
NM_000251.3(MSH2):c.2515C>G (p.His839Asp)
|
rs876659466
|
|
NM_000251.3(MSH2):c.506_508delinsCAA (p.Ile169_Gln170delinsThrLys)
|
rs2104027960
|
|
NM_000256.3(MYBPC3):c.654+1G>A
|
rs730880621
|
|
NM_000257.4(MYH7):c.5283+2dup
|
rs1566522824
|
|
NM_000266.4(NDP):c.185T>C (p.Leu62Pro)
|
rs2147204870
|
|
NM_000285.4(PEPD):c.549-1G>A
|
rs1204749077
|
|
NM_000314.8(PTEN):c.178A>T (p.Lys60Ter)
|
rs1554897262
|
|
NM_000350.3(ABCA4):c.6006-16G>A
|
rs4147863
|
|
NM_000350.3(ABCA4):c.6006-698del
|
rs4147902
|
|
NM_000388.4(CASR):c.2467C>T (p.Pro823Ser)
|
rs1576878027
|
|
NM_000416.3(IFNGR1):c.85+10T>C
|
rs7749390
|
|
NM_000435.3(NOTCH3):c.1790G>A (p.Cys597Tyr)
|
rs2046888772
|
|
NM_000455.5(STK11):c.1225C>G (p.Arg409Gly)
|
rs368466538
|
|
NM_000546.6(TP53):c.830G>A (p.Cys277Tyr)
|
rs763098116
|
|
NM_000868.4(HTR2C):c.1170G>T (p.Glu390Asp)
|
rs2071382276
|
|
NM_001003694.2(BRPF1):c.286C>T (p.Gln96Ter)
|
rs1553693863
|
|
NM_001004303.5(FYB2):c.1420G>T (p.Glu474Ter)
|
rs139281548
|
|
NM_001005242.3(PKP2):c.2065_2070delinsG (p.His689fs)
|
rs397517021
|
|
NM_001005279.3(OR6K2):c.669_670insA (p.Ala224fs)
|
rs1553241101
|
|
NM_001025.5(RPS23):c.200G>A (p.Arg67Lys)
|
rs1060505034
|
|
NM_001030006.2(AP2B1):c.240G>T (p.Gln80His)
|
rs2073654935
|
|
NM_001031684.3(SRSF7):c.357T>A (p.Cys119Ter)
|
|
|
NM_001032221.6(STXBP1):c.1277T>C (p.Leu426Pro)
|
rs886039435
|
|
NM_001032221.6(STXBP1):c.78_79del (p.Glu27fs)
|
rs1554775956
|
|
NM_001036.6(RYR3):c.9290T>G (p.Val3097Gly)
|
rs1555456665
|
|
NM_001042492.3(NF1):c.6024T>C (p.Asp2008=)
|
rs2069668775
|
|
NM_001069.3(TUBB2A):c.161C>A (p.Ala54Asp)
|
rs1762626578
|
|
NM_001080437.3(SNED1):c.210_211dup (p.Tyr71fs)
|
rs1553548453
|
|
NM_001080547.2(SPI1):c.325_327delinsAG (p.Gly109fs)
|
rs1565638431
|
|
NM_001083619.3(GRIA2):c.1831G>A (p.Asp611Asn)
|
rs1553956958
|
|
NM_001093730.1(DYTN):c.1281_1282dup (p.Glu428fs)
|
rs534558800
|
|
NM_001114123.3(ELK1):c.775G>T (p.Val259Phe)
|
rs2147941597
|
|
NM_001122681.2(SH3BP2):c.750T>G (p.Ala250=)
|
rs231399
|
|
NM_001127198.5(TMC6):c.1950C>T (p.Thr650=)
|
rs2613516
|
|
NM_001128840.3(CACNA1D):c.4563A>T (p.Leu1521Phe)
|
rs761795151
|
|
NM_001129898.2(KRBOX4):c.254-1610_254-1608delinsT
|
rs2146571577
|
|
NM_001130438.3(SPTAN1):c.3586C>G (p.Arg1196Gly)
|
rs1156936601
|
|
NM_001134407.3(GRIN2A):c.1202C>T (p.Pro401Leu)
|
rs1489261681
|
|
NM_001136501.3(ZNF844):c.1044_1048del (p.Tyr348_Asn350delinsTer)
|
rs372628445
|
|
NM_001143831.3(GRM5):c.797G>C (p.Ser266Thr)
|
rs1565260714
|
|
NM_001144989.2(ZNF814):c.1892del (p.Pro631fs)
|
rs1555777007
|
|
NM_001145004.2(GOLGA6L6):c.2015T>C (p.Met672Thr)
|
rs4932675
|
|
NM_001162501.2(TNRC6B):c.2247G>T (p.Trp749Cys)
|
rs200598254
|
|
NM_001243133.2(NLRP3):c.726G>A (p.Ala242=)
|
rs3806268
|
|
NM_001252102.2(KIF21B):c.2959_2962dup (p.Asn988fs)
|
rs1571930248
|
|
NM_001256067.2(NOXA1):c.870dup (p.Pro291fs)
|
rs773184989
|
|
NM_001267550.2(TTN):c.101242A>C (p.Thr33748Pro)
|
rs1575292990
|
|
NM_001267550.2(TTN):c.36449-2A>G
|
|
|
NM_001267550.2(TTN):c.489dup (p.Ala164fs)
|
rs1574990483
|
|
NM_001267550.2(TTN):c.58997_59009del (p.Ser19666fs)
|
rs2050621917
|
|
NM_001270.4(CHD1):c.1853G>A (p.Arg618Gln)
|
rs1554078349
|
|
NM_001282225.2(ADA2):c.1004A>G (p.His335Arg)
|
rs2231495
|
|
NM_001303037.2(PALS2):c.917del (p.Lys306fs)
|
rs757450051
|
|
NM_001330078.2(NRXN1):c.2642A>C (p.Asp881Ala)
|
rs2104919863
|
|
NM_001330260.2(SCN8A):c.4146_4147dup (p.Asn1383fs)
|
rs1555228380
|
|
NM_001330260.2(SCN8A):c.550A>G (p.Ile184Val)
|
rs1029149299
|
|
NM_001330701.2(AGTPBP1):c.410C>A (p.Ser137Tyr)
|
rs1261208737
|
|
NM_001346022.3(USP45):c.1008del (p.Val337fs)
|
rs554927779
|
|
NM_001346810.2(DLGAP2):c.2812C>A (p.Pro938Thr)
|
rs753629996
|
|
NM_001347721.2(DYRK1A):c.1373dup (p.Ile459fs)
|
rs1555990946
|
|
NM_001348768.2(HECW2):c.4334A>G (p.Glu1445Gly)
|
rs878854424
|
|
NM_001366145.2(TRPM3):c.3004G>A (p.Val1002Met)
|
rs1564493599
|
|
NM_001368894.2(PAX6):c.808-2A>C
|
rs1554983251
|
|
NM_001372051.1(CASP8):c.853G>C (p.Asp285His)
|
rs1045485
|
|
NM_001386140.1(MTTP):c.787G>A (p.Ala263Thr)
|
rs755170053
|
|
NM_001389.5(DSCAM):c.2487C>G (p.Asn829Lys)
|
|
|
NM_001394531.1(WDFY4):c.8253C>A (p.Asn2751Lys)
|
rs767111707
|
|
NM_001394962.1(KIAA1210):c.577T>G (p.Ser193Ala)
|
rs369956899
|
|
NM_001572.5(IRF7):c.1146A>C (p.Gly382=)
|
rs1061505
|
|
NM_001572.5(IRF7):c.184-4_184-3delinsAA
|
rs386749598
|
|
NM_001702.3(ADGRB1):c.2696dup (p.Gln900fs)
|
rs1554616325
|
|
NM_001855.5(COL15A1):c.12-6T>G
|
rs2118725299
|
|
NM_001875.4(CPS1):c.1030_1032delinsGCT (p.Thr344Ala)
|
rs386654705
|
|
NM_001875.5(CPS1):c.-4_-3insTTC
|
rs61509952
|
|
NM_001904.4(CTNNB1):c.768T>G (p.Ile256Met)
|
rs2078159405
|
|
NM_001927.4(DES):c.1217G>T (p.Arg406Leu)
|
rs1057520275
|
|
NM_002029.4(FPR1):c.1037A>C (p.Glu346Ala)
|
rs867228
|
|
NM_002029.4(FPR1):c.576T>C (p.Asn192=)
|
rs1042229
|
|
NM_002192.4(INHBA):c.1050C>G (p.Cys350Trp)
|
rs1562565534
|
|
NM_002332.3(LRP1):c.10129G>A (p.Gly3377Arg)
|
rs1555187467
|
|
NM_002332.3(LRP1):c.10277G>C (p.Cys3426Ser)
|
rs1592657298
|
|
NM_002373.6(MAP1A):c.3571C>G (p.Pro1191Ala)
|
rs2079336838
|
|
NM_002485.5(NBN):c.818C>G (p.Thr273Arg)
|
rs1554563912
|
|
NM_002691.4(POLD1):c.1481T>A (p.Ile494Asn)
|
rs1601217092
|
|
NM_002691.4(POLD1):c.208G>T (p.Val70Phe)
|
rs147911699
|
|
NM_002880.4(RAF1):c.278C>T (p.Pro93Leu)
|
rs1559438381
|
|
NM_003238.6(TGFB2):c.905G>A (p.Arg302His)
|
rs1553303213
|
|
NM_003336.4(UBE2A):c.67G>A (p.Gly23Arg)
|
rs1556235551
|
|
NM_003368.5(USP1):c.1985del (p.Asn662fs)
|
rs751218576
|
|
NM_003470.3(USP7):c.675G>A (p.Met225Ile)
|
rs1555465642
|
|
NM_003620.4(PPM1D):c.1437dup (p.Lys480Ter)
|
rs769754801
|
|
NM_004319.3(ASTN1):c.3515A>T (p.Glu1172Val)
|
rs1553217993
|
|
NM_004333.6(BRAF):c.1992+16G>C
|
rs3789806
|
|
NM_004360.5(CDH1):c.2090A>G (p.Lys697Arg)
|
rs1961233865
|
|
NM_004500.4(HNRNPC):c.850_876del (p.Arg284_Asp292del)
|
rs1284488942
|
|
NM_004545.4(NDUFB1):c.140+5G>A
|
rs1251993950
|
|
NM_004588.5(SCN2B):c.-18_-14delinsCTGTGCATT
|
rs1948469133
|
|
NM_004850.5(ROCK2):c.2878G>C (p.Glu960Gln)
|
rs1558285391
|
|
NM_004958.4(MTOR):c.7576G>A (p.Glu2526Lys)
|
rs1641671309
|
|
NM_005015.3(OXA1L):c.159dup (p.Ala54Serfs)
|
rs559124780
|
|
NM_005040.4(PRCP):c.1290C>A (p.Asp430Glu)
|
|
|
NM_005154.5(USP8):c.3130C>G (p.Pro1044Ala)
|
rs900013674
|
|
NM_005235.3(ERBB4):c.2524C>T (p.Arg842Trp)
|
rs1240072004
|
|
NM_005263.5(GFI1):c.925-40CT[15]
|
rs35896485
|
|
NM_005263.5(GFI1):c.925-40CT[21]
|
rs35896485
|
|
NM_005393.3(PLXNB3):c.3005G>A (p.Arg1002His)
|
rs868912528
|
|
NM_005718.5(ARPC4):c.472C>T (p.Arg158Cys)
|
rs2125650298
|
|
NM_006032.4(CPNE6):c.881C>T (p.Thr294Ile)
|
rs1566550951
|
|
NM_006047.6(RBM12):c.1592_1593delinsGGCT (p.Met531fs)
|
rs2146348720
|
|
NM_006178.4(NSF):c.1289C>T (p.Ala430Val)
|
rs1568034157
|
|
NM_006237.4(POU4F1):c.158_161dup (p.Leu55fs)
|
rs1874754405
|
|
NM_006237.4(POU4F1):c.917A>G (p.Gln306Arg)
|
rs1874704791
|
|
NM_006245.4(PPP2R5D):c.758G>C (p.Arg253Pro)
|
rs1131691266
|
|
NM_006351.4(TIMM44):c.923C>A (p.Pro308Gln)
|
rs139625465
|
|
NM_006386.5(DDX17):c.776A>G (p.Gln259Arg)
|
rs2145699293
|
|
NM_006440.5(TXNRD2):c.29G>C (p.Gly10Ala)
|
rs1159919237
|
|
NM_006610.4(MASP2):c.551G>A (p.Cys184Tyr)
|
rs1553161980
|
|
NM_006821.6(ACOT2):c.983A>G (p.His328Arg)
|
rs149033118
|
|
NM_006846.4(SPINK5):c.1093-10A>G
|
rs2303062
|
|
NM_006846.4(SPINK5):c.1557C>A (p.Gly519=)
|
rs880687
|
|
NM_006887.5(ZFP36L2):c.1426dup (p.Ser476fs)
|
rs1558427702
|
|
NM_007194.4(CHEK2):c.676_677del (p.Leu226fs)
|
|
|
NM_007194.4(CHEK2):c.909-8T>C
|
rs1569121935
|
|
NM_007294.4(BRCA1):c.3444G>C (p.Glu1148Asp)
|
rs2154315177
|
|
NM_007294.4(BRCA1):c.3629A>G (p.Glu1210Gly)
|
rs1060502347
|
|
NM_007294.4(BRCA1):c.4623_4632del (p.Glu1541fs)
|
rs1567777811
|
|
NM_007294.4(BRCA1):c.5266dup (p.Gln1756fs)
|
rs80357906
|
|
NM_013314.4(BLNK):c.171T>C (p.Pro57=)
|
rs727852
|
|
NM_013386.5(SLC25A24):c.650G>A (p.Arg217His)
|
rs1553253989
|
|
NM_014023.4(WDR37):c.374C>T (p.Thr125Ile)
|
rs1554823375
|
|
NM_014140.4(SMARCAL1):c.1947C>T (p.Asp649=)
|
rs2066526
|
|
NM_014253.3(TENM1):c.1788_1792del (p.Cys596_Asp598delinsTer)
|
rs2051127747
|
|
NM_014516.4(CNOT3):c.169C>T (p.Arg57Trp)
|
rs2074547544
|
|
NM_014633.5(CTR9):c.373A>G (p.Met125Val)
|
rs1862865944
|
|
NM_015080.4(NRXN2):c.5065A>C (p.Lys1689Gln)
|
rs1591422154
|
|
NM_015215.4(CAMTA1):c.1A>G (p.Met1Val)
|
rs1638882060
|
|
NM_015225.3(PRUNE2):c.337C>A (p.Leu113Met)
|
rs1554808146
|
|
NM_015354.3(NUP188):c.3881G>T (p.Cys1294Phe)
|
rs2131192898
|
|
NM_015419.4(MXRA5):c.7986_8003delinsTGCAGCTGGGCAGGGACA (p.Gly2663_Arg2668delinsAlaAlaGlyGlnGlyHis)
|
rs1603467724
|
|
NM_015447.4(CAMSAP1):c.1707dup (p.Thr570fs)
|
rs1835535749
|
|
NM_015447.4(CAMSAP1):c.3130C>T (p.Gln1044Ter)
|
rs1835459356
|
|
NM_015512.5(DNAH1):c.550G>T (p.Gly184Cys)
|
rs1578073213
|
|
NM_015557.3(CHD5):c.4257C>G (p.Ile1419Met)
|
rs371488822
|
|
NM_015559.3(SETBP1):c.2612T>G (p.Ile871Ser)
|
rs267607038
|
|
NM_016374.6(ARID4B):c.1097_1104dup (p.Leu369fs)
|
rs2103026178
|
|
NM_016604.4(KDM3B):c.3165C>G (p.Asp1055Glu)
|
rs1762641036
|
|
NM_016640.4(MRPS30):c.674G>A (p.Arg225Gln)
|
rs751273694
|
|
NM_017449.5(EPHB2):c.595C>T (p.Arg199Cys)
|
rs1020423787
|
|
NM_017514.5(PLXNA3):c.1008_1009insAGAG (p.Leu337fs)
|
rs2148245076
|
|
NM_017671.5(FERMT1):c.1812G>A (p.Trp604Ter)
|
rs1172664527
|
|
NM_017857.4(SSH3):c.1383_1384dup (p.Ile462fs)
|
rs773711729
|
|
NM_018091.6(ELP3):c.686del (p.Lys229fs)
|
rs764649021
|
|
NM_018091.6(ELP3):c.893T>G (p.Ile298Ser)
|
rs764954376
|
|
NM_018133.4(MSL2):c.73C>T (p.Pro25Ser)
|
rs745561575
|
|
NM_018344.6(SLC29A3):c.714_715inv (p.Val239Ile)
|
|
|
NM_018398.3(CACNA2D3):c.25_29del (p.Arg9fs)
|
rs1699498998
|
|
NM_018990.4(SASH3):c.1040G>A (p.Arg347His)
|
|
|
NM_020311.3(ACKR3):c.772G>A (p.Val258Met)
|
rs200582844
|
|
NM_020318.3(PAPPA2):c.1013TCT[2] (p.Phe340del)
|
rs773901878
|
|
NM_020661.4(AICDA):c.428-17dup
|
rs5796316
|
|
NM_020745.4(AARS2):c.539T>C (p.Leu180Pro)
|
rs2153357304
|
|
NM_020783.4(SYT4):c.1del (p.Met1fs)
|
rs779678442
|
|
NM_020791.4(TAOK1):c.825_826insCT (p.Leu276_Lys277insTer)
|
rs1555564792
|
|
NM_020925.4(CACHD1):c.1387G>A (p.Asp463Asn)
|
rs1648970624
|
|
NM_020937.4(FANCM):c.1880G>A (p.Arg627Gln)
|
rs777379515
|
|
NM_021076.4(NEFH):c.1054C>A (p.Arg352Ser)
|
rs149955255
|
|
NM_021120.4(DLG3):c.126dup (p.Gly43fs)
|
rs2086554538
|
|
NM_021228.3(SCAF1):c.1166C>G (p.Ser389Trp)
|
rs867079547
|
|
NM_024011.4(CDK11A):c.1927del (p.Ser643fs)
|
|
|
NM_024103.3(SLC25A23):c.757G>A (p.Ala253Thr)
|
rs546358775
|
|
NM_024652.6(LRRK1):c.5870+1G>C
|
rs1596362892
|
|
NM_024870.4(PREX2):c.357T>A (p.Tyr119Ter)
|
rs1807584458
|
|
NM_025009.5(CEP135):c.3164A>G (p.Asp1055Gly)
|
|
|
NM_030632.3(ASXL3):c.1978_1981del (p.Asp660fs)
|
rs1555742500
|
|
NM_031475.3(ESPN):c.1797_1808del (p.Pro602_Pro605del)
|
rs548962140
|
|
NM_032119.4(ADGRV1):c.13088A>G (p.Tyr4363Cys)
|
rs1040207686
|
|
NM_032408.4(BAZ1B):c.3071+1G>T
|
rs1554571044
|
|
NM_032634.4(PIGO):c.2026G>A (p.Ala676Thr)
|
rs1465665122
|
|
NM_033091.3(TRIM4):c.1372del (p.Trp458fs)
|
rs1254691563
|
|
NM_033132.5(ZIC5):c.11C>T (p.Pro4Leu)
|
rs201940459
|
|
NM_033429.3(CALML4):c.454del (p.Asp152fs)
|
rs772664987
|
|
NM_033656.4(BRWD1):c.3904C>T (p.His1302Tyr)
|
rs377313924
|
|
NM_052874.5(STX1B):c.736G>C (p.Ala246Pro)
|
rs1567376699
|
|
NM_078629.4(MSL3):c.961C>T (p.Gln321Ter)
|
rs2053172723
|
|
NM_080680.3(COL11A2):c.799-13C>T
|
rs876657443
|
|
NM_130811.4(SNAP25):c.142G>T (p.Val48Phe)
|
rs797044873
|
|
NM_134261.3(RORA):c.804_805del (p.Ser269fs)
|
rs1555423812
|
|
NM_138403.5(MYL10):c.565C>T (p.Arg189Cys)
|
rs141873317
|
|
NM_138420.4(AHNAK2):c.3336_3337insA (p.Pro1113fs)
|
rs1555402051
|
|
NM_138576.4(BCL11B):c.1365_1367del (p.Tyr455_Lys456delinsTer)
|
rs1595215735
|
|
NM_138927.4(SON):c.2365del (p.Ser789fs)
|
rs1555898531
|
|
NM_139276.3(STAT3):c.1601-10dup
|
rs3830585
|
|
NM_144687.4(NLRP12):c.2469C>A (p.Leu823=)
|
rs12460528
|
|
NM_145331.3(MAP3K7):c.721T>G (p.Trp241Gly)
|
rs886039237
|
|
NM_145690.3(YWHAZ):c.689C>G (p.Ser230Trp)
|
rs1554612377
|
|
NM_148912.4(ABHD11):c.397A>G (p.Met133Val)
|
rs1800037693
|
|
NM_170601.5(SIAE):c.966+3A>G
|
rs2134363681
|
|
NM_172070.4(UBR3):c.5023G>C (p.Glu1675Gln)
|
rs1574483194
|
|
NM_174911.5(LRATD2):c.391_392dup (p.His132fs)
|
rs1554597029
|
|
NM_181335.3(ARHGAP8):c.*157_*164del
|
rs1601543290
|
|
NM_181715.3(CRTC2):c.753-2A>T
|
rs2102110797
|
|
NM_182490.3(ZNF227):c.2233A>T (p.Lys745Ter)
|
rs1555794654
|
|
NM_182503.3(ADAT2):c.191A>G (p.Gln64Arg)
|
rs2128741897
|
|
NM_182524.4(ZNF595):c.572del (p.Thr191fs)
|
rs1553801175
|
|
NM_182524.4(ZNF595):c.574_575insA (p.Gly192fs)
|
rs1553801178
|
|
NM_198123.2(CSMD3):c.267A>G (p.Ala89=)
|
rs2093896149
|
|
NM_198137.2(CATSPER4):c.523G>T (p.Glu175Ter)
|
rs945217788
|
|
NM_198179.3(QRFPR):c.1025del (p.Asn342fs)
|
rs545337361
|
|
NM_198253.3(TERT):c.2947C>T (p.His983Tyr)
|
rs1554038803
|
|
NM_198834.3(ACACA):c.364G>A (p.Val122Ile)
|
rs2146612065
|
|
NM_199242.3(UNC13D):c.888G>C (p.Pro296=)
|
rs7223416
|
|
NM_203447.4(DOCK8):c.2916C>T (p.Thr972=)
|
rs2297075
|
|
NM_203447.4(DOCK8):c.699T>C (p.Asn233=)
|
rs2039045
|
|
NM_207037.2(TCF12):c.2006G>T (p.Cys669Phe)
|
rs1597901046
|
|
Single allele
|
|
|
m.12297T>C
|
rs121434464
|
|
m.1438A>G
|
rs2001030
|
|
m.4216T>C
|
rs1599988
|
|
m.5874T>C
|
rs118203891
|
|