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_001174147.2(LMX1B):c.441A>G (p.Glu147=)
|
rs2277158
|
0.45698
|
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_001174147.2(LMX1B):c.726G>C (p.Ser242=)
|
rs13295990
|
0.41484
|
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_000097.7(CPOX):c.814A>C (p.Asn272His)
|
rs1131857
|
0.24099
|
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_000017.4(ACADS):c.625G>A (p.Gly209Ser)
|
rs1799958
|
0.20617
|
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_001378373.1(MBL2):c.161G>A (p.Gly54Asp)
|
rs1800450
|
0.11335
|
NM_005609.4(PYGM):c.1827+7A>G
|
rs532747
|
0.10554
|
NM_000410.4(HFE):c.187C>G (p.His63Asp)
|
rs1799945
|
0.10170
|
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_000036.3(AMPD1):c.34C>T (p.Gln12Ter)
|
rs17602729
|
0.08701
|
NM_001243133.2(NLRP3):c.1302C>T (p.Ser434=)
|
rs34298354
|
0.08679
|
NM_000498.3(CYP11B2):c.1157T>C (p.Val386Ala)
|
rs61757294
|
0.08654
|
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_000324.3(RHAG):c.808G>A (p.Val270Ile)
|
rs16879498
|
0.04007
|
NM_000410.4(HFE):c.845G>A (p.Cys282Tyr)
|
rs1800562
|
0.03880
|
NM_000355.4(TCN2):c.1127T>C (p.Leu376Ser)
|
rs1131603
|
0.03712
|
NM_000402.4(G6PD):c.292G>A (p.Val98Met)
|
rs1050828
|
0.03616
|
NM_005343.4(HRAS):c.-10C>T
|
rs41294870
|
0.03593
|
NM_006846.4(SPINK5):c.1851T>C (p.Ala617=)
|
rs17718737
|
0.03431
|
NM_000017.4(ACADS):c.511C>T (p.Arg171Trp)
|
rs1800556
|
0.03280
|
NM_001370658.1(BTD):c.1270G>C (p.Asp424His)
|
rs13078881
|
0.03225
|
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_001127701.1(SERPINA1):c.863A>T (p.Glu288Val)
|
rs17580
|
0.02950
|
NM_000081.4(LYST):c.7137A>C (p.Leu2379=)
|
rs61738992
|
0.02884
|
NM_000036.3(AMPD1):c.860A>T (p.Lys287Ile)
|
rs34526199
|
0.02732
|
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_005094.4(SLC27A4):c.1052A>G (p.Asn351Ser)
|
rs111417655
|
0.02275
|
NM_000152.5(GAA):c.271G>A (p.Asp91Asn)
|
rs1800299
|
0.02215
|
NM_000243.3(MEFV):c.442G>C (p.Glu148Gln)
|
rs3743930
|
0.02112
|
NM_176869.3(PPA2):c.64A>G (p.Thr22Ala)
|
rs35571699
|
0.02096
|
NM_001849.4(COL6A2):c.*56T>G
|
rs148337125
|
0.01837
|
NM_144736.5(NDUFAF7):c.50G>A (p.Arg17His)
|
rs72875762
|
0.01764
|
NM_000492.4(CFTR):c.1584G>A (p.Glu528=)
|
rs1800095
|
0.01670
|
NM_004813.4(PEX16):c.760G>C (p.Val254Leu)
|
rs35214605
|
0.01652
|
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_000784.4(CYP27A1):c.1151C>T (p.Pro384Leu)
|
rs41272687
|
0.01478
|
NM_001384474.1(LOXHD1):c.3269G>A (p.Arg1090Gln)
|
rs118174674
|
0.01368
|
NM_021098.3(CACNA1H):c.994G>A (p.Ala332Thr)
|
rs59650398
|
0.01351
|
NM_001370259.2(MEN1):c.512G>A (p.Arg171Gln)
|
rs607969
|
0.01309
|
NM_000355.4(TCN2):c.265T>C (p.Phe89Leu)
|
rs35915865
|
0.01306
|
NM_000518.5(HBB):c.20A>T (p.Glu7Val)
|
rs334
|
0.01298
|
NM_000055.2(BCHE):c.293A>G (p.Asp98Gly)
|
rs1799807
|
0.01259
|
NM_001065.4(TNFRSF1A):c.362G>A (p.Arg121Gln)
|
rs4149584
|
0.01206
|
NM_004006.3(DMD):c.7310-36C>T
|
rs72466586
|
0.01045
|
NM_139242.4(MTFMT):c.172T>A (p.Phe58Ile)
|
rs188718836
|
0.01018
|
NM_004004.6(GJB2):c.101T>C (p.Met34Thr)
|
rs35887622
|
0.00966
|
NM_000535.7(PMS2):c.52A>G (p.Ile18Val)
|
rs63750123
|
0.00861
|
NM_001243133.2(NLRP3):c.592G>A (p.Val198Met)
|
rs121908147
|
0.00835
|
NM_152564.5(VPS13B):c.2485G>A (p.Ala829Thr)
|
rs61753721
|
0.00820
|
NM_001379610.1(SPINK1):c.101A>G (p.Asn34Ser)
|
rs17107315
|
0.00797
|
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_004541.4(NDUFA1):c.94G>C (p.Gly32Arg)
|
rs1801316
|
0.00694
|
NM_014000.3(VCL):c.2801C>T (p.Ala934Val)
|
rs16931179
|
0.00658
|
NM_004393.6(DAG1):c.259A>G (p.Ile87Val)
|
rs116717961
|
0.00640
|
NM_004447.6(EPS8):c.104A>G (p.His35Arg)
|
rs71532816
|
0.00631
|
NM_000443.4(ABCB4):c.1769G>A (p.Arg590Gln)
|
rs45575636
|
0.00625
|
NM_001605.3(AARS1):c.1685C>T (p.Thr562Ile)
|
rs148355156
|
0.00591
|
NM_198529.4(EFCAB5):c.42+1G>A
|
rs201197242
|
0.00559
|
NM_002473.6(MYH9):c.136C>T (p.Leu46Phe)
|
rs147122501
|
0.00554
|
NM_002562.6(P2RX7):c.125+1G>T
|
rs35933842
|
0.00535
|
NM_014363.6(SACS):c.4466A>G (p.Asn1489Ser)
|
rs147099630
|
0.00521
|
NM_012452.3(TNFRSF13B):c.542C>A (p.Ala181Glu)
|
rs72553883
|
0.00518
|
NM_000243.3(MEFV):c.2084A>G (p.Lys695Arg)
|
rs104895094
|
0.00506
|
NM_004153.4(ORC1):c.2314G>A (p.Val772Ile)
|
rs61753389
|
0.00503
|
NM_017671.5(FERMT1):c.1600G>A (p.Ala534Thr)
|
rs2232078
|
0.00503
|
NM_001130987.2(DYSF):c.3946A>G (p.Ile1316Val)
|
rs121908954
|
0.00491
|
NM_001193313.2(SUGCT):c.985C>T (p.Arg329Trp)
|
rs137852860
|
0.00490
|
NM_017888.3(ACSM5):c.1157A>C (p.Lys386Thr)
|
rs148243446
|
0.00490
|
NM_000250.2(MPO):c.2031-2A>C
|
rs35897051
|
0.00472
|
NM_182588.3(RGPD4):c.1335G>A (p.Trp445Ter)
|
rs1306583979
|
0.00444
|
NM_052865.4(MGME1):c.532C>T (p.Arg178Trp)
|
rs143417446
|
0.00443
|
NM_007194.4(CHEK2):c.470T>C (p.Ile157Thr)
|
rs17879961
|
0.00434
|
NR_163193.1(TCP10):n.1018G>A
|
rs140649985
|
0.00424
|
NM_006618.5(KDM5B):c.4145G>A (p.Arg1382Gln)
|
rs34216958
|
0.00411
|
NM_181503.3(EXOSC8):c.815G>C (p.Ser272Thr)
|
rs36027220
|
0.00400
|
NM_006432.5(NPC2):c.441+1G>A
|
rs140130028
|
0.00399
|
NM_001098.3(ACO2):c.220C>G (p.Leu74Val)
|
rs141772938
|
0.00383
|
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_002693.3(POLG):c.803G>C (p.Gly268Ala)
|
rs61752784
|
0.00364
|
NM_000016.6(ACADM):c.985A>G (p.Lys329Glu)
|
rs77931234
|
0.00363
|
NM_177986.5(DSG4):c.1198G>A (p.Gly400Arg)
|
rs35378785
|
0.00362
|
NM_003119.4(SPG7):c.1529C>T (p.Ala510Val)
|
rs61755320
|
0.00361
|
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.1607T>C (p.Val536Ala)
|
rs138427376
|
0.00342
|
NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp)
|
rs36053993
|
0.00341
|
NM_000303.3(PMM2):c.422G>A (p.Arg141His)
|
rs28936415
|
0.00338
|
NM_000426.4(LAMA2):c.4487C>T (p.Ala1496Val)
|
rs147077184
|
0.00338
|
NM_020928.2(ZSWIM6):c.1906G>A (p.Val636Met)
|
rs140760439
|
0.00337
|
NM_000053.4(ATP7B):c.2175G>A (p.Arg725=)
|
rs61733684
|
0.00329
|
NM_000271.5(NPC1):c.665A>G (p.Asn222Ser)
|
rs55680026
|
0.00329
|
NM_001005373.4(LRSAM1):c.965A>G (p.Gln322Arg)
|
rs56380300
|
0.00328
|
NM_000035.4(ALDOB):c.448G>C (p.Ala150Pro)
|
rs1800546
|
0.00319
|
NM_030930.4(UNC93B1):c.393-10C>T
|
rs117183629
|
0.00314
|
NM_004380.3(CREBBP):c.2941G>A (p.Ala981Thr)
|
rs61753380
|
0.00307
|
NM_000342.4(SLC4A1):c.539G>A (p.Arg180His)
|
rs147390654
|
0.00294
|
NM_000053.4(ATP7B):c.2355+13T>G
|
rs139211339
|
0.00293
|
NM_080916.3(DGUOK):c.4G>T (p.Ala2Ser)
|
rs147551003
|
0.00280
|
NM_000350.3(ABCA4):c.455G>A (p.Arg152Gln)
|
rs62646862
|
0.00276
|
NM_006019.4(TCIRG1):c.1249G>A (p.Ala417Thr)
|
rs140963213
|
0.00275
|
NM_000350.3(ABCA4):c.5882G>A (p.Gly1961Glu)
|
rs1800553
|
0.00269
|
NM_033540.3(MFN1):c.677G>A (p.Arg226Gln)
|
rs143476739
|
0.00265
|
NM_012275.3(IL36RN):c.338C>T (p.Ser113Leu)
|
rs144478519
|
0.00264
|
NM_022132.5(MCCC2):c.599T>A (p.Ile200Asn)
|
rs140806722
|
0.00262
|
NM_025152.3(NUBPL):c.545T>C (p.Val182Ala)
|
rs61752327
|
0.00260
|
NM_001130987.2(DYSF):c.5743G>A (p.Asp1915Asn)
|
rs115013641
|
0.00257
|
NM_014611.3(MDN1):c.16547C>T (p.Ala5516Val)
|
rs34750131
|
0.00257
|
NM_001243177.4(ALDOA):c.1201G>A (p.Gly401Ser)
|
rs138824667
|
0.00256
|
NM_000071.3(CBS):c.1105C>T (p.Arg369Cys)
|
rs117687681
|
0.00255
|
NM_001267550.2(TTN):c.24820G>A (p.Glu8274Lys)
|
rs72648981
|
0.00245
|
NM_001039141.3(TRIOBP):c.4031G>A (p.Arg1344Gln)
|
rs34066624
|
0.00238
|
NM_001036.6(RYR3):c.7812C>G (p.Asn2604Lys)
|
rs41279214
|
0.00237
|
NM_001849.4(COL6A2):c.2795C>T (p.Pro932Leu)
|
rs117725825
|
0.00233
|
NM_005609.4(PYGM):c.1537A>G (p.Ile513Val)
|
rs139570786
|
0.00232
|
NM_001037.5(SCN1B):c.448+193G>A
|
rs66876876
|
0.00227
|
NM_004562.3(PRKN):c.823C>T (p.Arg275Trp)
|
rs34424986
|
0.00226
|
NM_015295.3(SMCHD1):c.424+10C>T
|
rs201631086
|
0.00225
|
NM_000089.4(COL1A2):c.594+5A>T
|
rs200744314
|
0.00220
|
NM_001330311.2(DVL1):c.1366A>G (p.Thr456Ala)
|
rs140107023
|
0.00213
|
NM_000642.3(AGL):c.2390A>G (p.Asn797Ser)
|
rs149210307
|
0.00212
|
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg)
|
rs113624356
|
0.00212
|
NM_000391.4(TPP1):c.293C>T (p.Thr98Met)
|
rs140726254
|
0.00209
|
NM_058216.3(RAD51C):c.790G>A (p.Gly264Ser)
|
rs147241704
|
0.00207
|
NM_006005.3(WFS1):c.482G>A (p.Arg161Gln)
|
rs115346085
|
0.00204
|
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_000157.4(GBA1):c.1226A>G (p.Asn409Ser)
|
rs76763715
|
0.00191
|
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_153006.3(NAGS):c.374C>A (p.Thr125Lys)
|
rs185863881
|
0.00187
|
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_000090.4(COL3A1):c.812G>A (p.Arg271Gln)
|
rs112185887
|
0.00176
|
NM_002474.3(MYH11):c.739C>T (p.Arg247Cys)
|
rs150759461
|
0.00174
|
NM_000250.2(MPO):c.1705C>T (p.Arg569Trp)
|
rs119468010
|
0.00173
|
NM_001382.4(DPAGT1):c.994T>G (p.Phe332Val)
|
rs138544311
|
0.00172
|
NM_000540.3(RYR1):c.10616G>A (p.Arg3539His)
|
rs143987857
|
0.00171
|
NM_000138.5(FBN1):c.3509G>A (p.Arg1170His)
|
rs137854475
|
0.00168
|
NM_001048174.2(MUTYH):c.452A>G (p.Tyr151Cys)
|
rs34612342
|
0.00168
|
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_005199.5(CHRNG):c.1115C>T (p.Ser372Phe)
|
rs145433186
|
0.00160
|
NM_004560.4(ROR2):c.1589G>A (p.Arg530Gln)
|
rs35852786
|
0.00156
|
NM_007055.4(POLR3A):c.1909+22G>A
|
rs191875469
|
0.00156
|
NM_001165963.4(SCN1A):c.1625G>A (p.Arg542Gln)
|
rs121918817
|
0.00154
|
NM_000302.4(PLOD1):c.77-3358C>T
|
rs534978828
|
0.00153
|
NM_003482.4(KMT2D):c.10256A>G (p.Asp3419Gly)
|
rs146044282
|
0.00152
|
NM_001036.6(RYR3):c.6617A>C (p.Asn2206Thr)
|
rs181264765
|
0.00150
|
NM_007255.3(B4GALT7):c.277C>T (p.His93Tyr)
|
rs142476892
|
0.00150
|
NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe)
|
rs80338902
|
0.00137
|
NM_000098.3(CPT2):c.338C>T (p.Ser113Leu)
|
rs74315294
|
0.00134
|
NM_000243.3(MEFV):c.986G>A (p.Arg329His)
|
rs104895112
|
0.00133
|
NM_018249.6(CDK5RAP2):c.412G>A (p.Gly138Ser)
|
rs61756286
|
0.00127
|
NM_004006.3(DMD):c.7183G>A (p.Ala2395Thr)
|
rs72466590
|
0.00126
|
NM_000104.4(CYP1B1):c.1103G>A (p.Arg368His)
|
rs79204362
|
0.00125
|
NM_000158.4(GBE1):c.15G>A (p.Met5Ile)
|
rs62267114
|
0.00125
|
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_001849.4(COL6A2):c.1970-3C>A
|
rs201879417
|
0.00118
|
NM_012213.3(MLYCD):c.1044G>T (p.Glu348Asp)
|
rs138675420
|
0.00118
|
NM_000038.6(APC):c.3920T>A (p.Ile1307Lys)
|
rs1801155
|
0.00116
|
NM_000102.4(CYP17A1):c.62G>A (p.Arg21Lys)
|
rs61754263
|
0.00116
|
NM_000249.4(MLH1):c.-7C>T
|
rs104894994
|
0.00115
|
NM_001374675.1(HSF4):c.925C>G (p.Leu309Val)
|
rs201430635
|
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_004563.4(PCK2):c.1468+2T>C
|
rs148019349
|
0.00110
|
NM_001144978.3(MTHFD2L):c.482G>A (p.Gly161Glu)
|
rs144442266
|
0.00109
|
NM_033109.5(PNPT1):c.1525G>A (p.Val509Ile)
|
rs146571352
|
0.00109
|
NM_024753.5(TTC21B):c.2587C>T (p.Arg863Trp)
|
rs34489989
|
0.00108
|
NM_000540.3(RYR1):c.7025A>G (p.Asn2342Ser)
|
rs147213895
|
0.00104
|
NM_025103.4(IFT74):c.163A>T (p.Ile55Leu)
|
rs62542664
|
0.00104
|
NM_001160372.4(TRAPPC9):c.3149G>A (p.Arg1050Gln)
|
rs111768745
|
0.00103
|
NM_001163435.3(TBCK):c.974T>C (p.Val325Ala)
|
rs145386125
|
0.00103
|
NM_001267550.2(TTN):c.80701A>G (p.Ile26901Val)
|
rs201562505
|
0.00102
|
NM_001875.5(CPS1):c.637G>A (p.Gly213Ser)
|
rs138392504
|
0.00102
|
NM_030916.3(NECTIN4):c.1327C>T (p.Arg443Cys)
|
rs1537044
|
0.00102
|
NM_000053.4(ATP7B):c.3207C>A (p.His1069Gln)
|
rs76151636
|
0.00100
|
NM_000383.4(AIRE):c.1322C>T (p.Thr441Met)
|
rs72650677
|
0.00100
|
NM_000094.4(COL7A1):c.5819C>T (p.Pro1940Leu)
|
rs149267939
|
0.00098
|
NM_000426.4(LAMA2):c.6161A>G (p.Gln2054Arg)
|
rs56035053
|
0.00098
|
NM_025233.7(COASY):c.-1C>T
|
rs147852474
|
0.00096
|
NM_001164508.2(NEB):c.3986A>C (p.Asp1329Ala)
|
rs115986826
|
0.00095
|
NM_001267550.2(TTN):c.102271C>T (p.Arg34091Trp)
|
rs140319117
|
0.00095
|
NM_000093.5(COL5A1):c.61C>T (p.Pro21Ser)
|
rs548525119
|
0.00094
|
NM_031448.6(C19orf12):c.391A>G (p.Lys131Glu)
|
rs146170087
|
0.00094
|
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_000277.3(PAH):c.1222C>T (p.Arg408Trp)
|
rs5030858
|
0.00092
|
NM_014391.3(ANKRD1):c.197G>A (p.Arg66Gln)
|
rs150797476
|
0.00092
|
NM_207346.3(TSEN54):c.919G>T (p.Ala307Ser)
|
rs113994152
|
0.00092
|
NM_000310.4(PPT1):c.904A>G (p.Ile302Val)
|
rs146902902
|
0.00091
|
NM_017909.4(RMND1):c.1085G>A (p.Arg362His)
|
rs142588921
|
0.00091
|
NM_000045.4(ARG1):c.62G>A (p.Arg21Gln)
|
rs144994895
|
0.00087
|
NM_001267550.2(TTN):c.5479G>T (p.Ala1827Ser)
|
rs141213991
|
0.00087
|
NM_000275.3(OCA2):c.1103C>T (p.Ala368Val)
|
rs61745150
|
0.00086
|
NM_003764.4(STX11):c.616G>A (p.Glu206Lys)
|
rs145347140
|
0.00086
|
NM_021098.3(CACNA1H):c.1702G>A (p.Asp568Asn)
|
rs61056448
|
0.00086
|
NM_004104.5(FASN):c.1850C>T (p.Pro617Leu)
|
rs45444391
|
0.00085
|
NM_018122.5(DARS2):c.128-5T>A
|
rs200078808
|
0.00084
|
NM_032380.5(GFM2):c.1984T>A (p.Ser662Thr)
|
rs141789665
|
0.00084
|
NM_000051.4(ATM):c.3925G>A (p.Ala1309Thr)
|
rs149711770
|
0.00081
|
NM_001367624.2(ZNF469):c.11425G>A (p.Glu3809Lys)
|
rs201834513
|
0.00081
|
NM_002693.3(POLG):c.2243G>C (p.Trp748Ser)
|
rs113994097
|
0.00081
|
NM_004447.6(EPS8):c.1330T>C (p.Phe444Leu)
|
rs139258361
|
0.00081
|
NM_001848.3(COL6A1):c.350T>C (p.Val117Ala)
|
rs138899581
|
0.00080
|
NM_033163.5(FGF8):c.77C>T (p.Pro26Leu)
|
rs137852660
|
0.00079
|
NM_000173.7(GP1BA):c.92T>C (p.Val31Ala)
|
rs201827537
|
0.00078
|
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_000174.5(GP9):c.182A>G (p.Asn61Ser)
|
rs5030764
|
0.00076
|
NM_001292063.2(OTOG):c.4012C>T (p.Arg1338Trp)
|
rs61734125
|
0.00076
|
NM_001360.3(DHCR7):c.452G>A (p.Trp151Ter)
|
rs11555217
|
0.00072
|
NM_015506.3(MMACHC):c.181C>T (p.Arg61Trp)
|
rs200483477
|
0.00072
|
NM_133379.5(TTN):c.11075G>C (p.Ser3692Thr)
|
rs147314430
|
0.00071
|
NM_001384474.1(LOXHD1):c.4480C>T (p.Arg1494Ter)
|
rs201587138
|
0.00069
|
NM_002693.3(POLG):c.1399G>A (p.Ala467Thr)
|
rs113994095
|
0.00068
|
NM_000287.4(PEX6):c.853C>G (p.Pro285Ala)
|
rs61753220
|
0.00067
|
NM_003060.4(SLC22A5):c.34G>A (p.Gly12Ser)
|
rs139203363
|
0.00066
|
NM_004369.4(COL6A3):c.3902G>A (p.Arg1301Gln)
|
rs148038440
|
0.00066
|
NM_000518.4(HBB):c.208G>A (p.Gly70Ser)
|
rs33947415
|
0.00064
|
NM_001854.4(COL11A1):c.3811G>T (p.Val1271Leu)
|
rs150669855
|
0.00064
|
NM_004278.4(PIGL):c.500T>C (p.Leu167Pro)
|
rs145303331
|
0.00062
|
NM_000159.4(GCDH):c.1261G>A (p.Ala421Thr)
|
rs151201155
|
0.00061
|
NM_001085411.3(NADK2):c.1225A>G (p.Met409Val)
|
rs62353845
|
0.00061
|
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_001364905.1(LRBA):c.4855G>T (p.Val1619Leu)
|
rs143883830
|
0.00060
|
NM_001943.5(DSG2):c.1003A>G (p.Thr335Ala)
|
rs191564916
|
0.00060
|
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_000093.5(COL5A1):c.2096C>T (p.Thr699Met)
|
rs142313124
|
0.00057
|
NM_206933.4(USH2A):c.2299del (p.Glu767fs)
|
rs80338903
|
0.00055
|
NM_001943.5(DSG2):c.437G>T (p.Arg146Leu)
|
rs113451409
|
0.00054
|
NM_152564.5(VPS13B):c.1700G>A (p.Gly567Glu)
|
rs141046414
|
0.00054
|
NM_000391.4(TPP1):c.509-1G>C
|
rs56144125
|
0.00053
|
NM_001329943.3(KIAA0586):c.94dup (p.His32fs)
|
rs555421894
|
0.00053
|
NM_001365536.1(SCN9A):c.3402G>T (p.Leu1134Phe)
|
rs200160858
|
0.00052
|
NM_001377.3(DYNC2H1):c.1774C>T (p.Leu592Phe)
|
rs180861816
|
0.00052
|
NM_000755.5(CRAT):c.830G>A (p.Arg277His)
|
rs146338921
|
0.00051
|
NM_018055.5(NODAL):c.904C>T (p.Arg302Cys)
|
rs150819707
|
0.00051
|
NM_182961.4(SYNE1):c.24827C>G (p.Ala8276Gly)
|
rs142985368
|
0.00051
|
NM_020937.4(FANCM):c.5569G>A (p.Val1857Met)
|
rs144008013
|
0.00049
|
NM_052850.4(GADD45GIP1):c.26G>A (p.Arg9His)
|
rs375539782
|
0.00049
|
NM_177924.5(ASAH1):c.620A>T (p.Tyr207Phe)
|
rs150268016
|
0.00049
|
NM_001126108.2(SLC12A3):c.37G>C (p.Ala13Pro)
|
rs147200024
|
0.00048
|
NM_005006.7(NDUFS1):c.529A>G (p.Ile177Val)
|
rs140126185
|
0.00047
|
NM_000487.6(ARSA):c.465+1G>A
|
rs80338815
|
0.00046
|
NM_014476.6(PDLIM3):c.715G>A (p.Asp239Asn)
|
rs142143310
|
0.00046
|
NM_022089.4(ATP13A2):c.746C>T (p.Ala249Val)
|
rs145515028
|
0.00044
|
NM_207122.2(EXT2):c.1022C>T (p.Pro341Leu)
|
rs141035971
|
0.00044
|
NM_173630.4(RTTN):c.2255C>T (p.Pro752Leu)
|
rs35424122
|
0.00043
|
NM_001370658.1(BTD):c.68A>G (p.His23Arg)
|
rs146011150
|
0.00042
|
NM_001378120.1(MBD5):c.1382G>A (p.Arg461His)
|
rs139964770
|
0.00042
|
NM_000088.4(COL1A1):c.1882G>A (p.Ala628Thr)
|
rs113950465
|
0.00041
|
NM_003000.3(SDHB):c.158G>A (p.Gly53Glu)
|
rs34916635
|
0.00041
|
NM_007208.4(MRPL3):c.1033A>G (p.Ile345Val)
|
rs143176048
|
0.00041
|
NM_001170535.3(ATAD3A):c.229C>G (p.Leu77Val)
|
rs138594222
|
0.00040
|
NM_000169.3(GLA):c.427G>A (p.Ala143Thr)
|
rs104894845
|
0.00039
|
NM_001005373.4(LRSAM1):c.1225C>G (p.Gln409Glu)
|
rs149540339
|
0.00039
|
NM_001370658.1(BTD):c.451G>A (p.Ala151Thr)
|
rs13073139
|
0.00039
|
NM_003619.4(PRSS12):c.37G>A (p.Gly13Arg)
|
rs140334007
|
0.00039
|
NM_024642.5(GALNT12):c.566A>G (p.Asn189Ser)
|
rs183981750
|
0.00039
|
NM_003482.4(KMT2D):c.7954A>C (p.Met2652Leu)
|
rs147706410
|
0.00038
|
NM_000350.3(ABCA4):c.1532G>A (p.Arg511His)
|
rs140482171
|
0.00037
|
NM_001036.6(RYR3):c.9581G>A (p.Arg3194His)
|
rs377341748
|
0.00037
|
NM_025114.4(CEP290):c.943-4C>T
|
rs199770158
|
0.00037
|
NM_000256.3(MYBPC3):c.3535G>A (p.Glu1179Lys)
|
rs199669878
|
0.00036
|
NM_000350.3(ABCA4):c.5714+5G>A
|
rs61751407
|
0.00036
|
NM_001079.4(ZAP70):c.1645A>G (p.Met549Val)
|
rs150950017
|
0.00036
|
NM_006017.3(PROM1):c.2112C>T (p.Arg704=)
|
rs375358457
|
0.00036
|
NM_032620.4(GTPBP3):c.1057G>A (p.Val353Ile)
|
rs77401427
|
0.00036
|
NM_138694.4(PKHD1):c.9925A>G (p.Ile3309Val)
|
rs45627337
|
0.00036
|
NM_139343.3(BIN1):c.715G>A (p.Val239Ile)
|
rs146573197
|
0.00036
|
NM_000055.4(BCHE):c.428G>A (p.Gly143Asp)
|
rs201820739
|
0.00035
|
NM_000038.6(APC):c.607C>G (p.Gln203Glu)
|
rs141576417
|
0.00034
|
NM_000277.3(PAH):c.898G>T (p.Ala300Ser)
|
rs5030853
|
0.00034
|
NM_000360.4(TH):c.1255G>A (p.Val419Met)
|
rs184106392
|
0.00034
|
NM_000501.4(ELN):c.1358-199G>A
|
rs781963901
|
0.00034
|
NM_001375808.2(LPIN2):c.2671G>A (p.Asp891Asn)
|
rs200648652
|
0.00034
|
NM_007194.4(CHEK2):c.1312G>T (p.Asp438Tyr)
|
rs200050883
|
0.00034
|
NM_012452.3(TNFRSF13B):c.260T>A (p.Ile87Asn)
|
rs72553877
|
0.00034
|
NM_000093.5(COL5A1):c.3991G>A (p.Asp1331Asn)
|
rs545973022
|
0.00033
|
NM_001770.6(CD19):c.527C>T (p.Pro176Leu)
|
rs148200569
|
0.00033
|
NM_014141.6(CNTNAP2):c.3758T>C (p.Ile1253Thr)
|
rs767821521
|
0.00033
|
NM_000053.4(ATP7B):c.2921C>T (p.Thr974Met)
|
rs201061621
|
0.00032
|
NM_001080.3(ALDH5A1):c.1474G>A (p.Val492Ile)
|
rs151294087
|
0.00032
|
NM_004589.4(SCO1):c.5C>A (p.Ala2Glu)
|
rs147487151
|
0.00032
|
NM_138995.5(MYO3B):c.800A>G (p.Asn267Ser)
|
rs34509373
|
0.00032
|
NM_002435.3(MPI):c.214A>C (p.Ser72Arg)
|
rs146699267
|
0.00031
|
NM_004364.5(CEBPA):c.724G>A (p.Gly242Ser)
|
rs530569305
|
0.00031
|
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_000441.2(SLC26A4):c.1001+1G>A
|
rs80338849
|
0.00029
|
NM_000487.6(ARSA):c.542T>G (p.Ile181Ser)
|
rs74315457
|
0.00029
|
NM_001036.6(RYR3):c.9799C>T (p.Pro3267Ser)
|
rs182972491
|
0.00029
|
NM_001110556.2(FLNA):c.2449C>T (p.Pro817Ser)
|
rs200053635
|
0.00029
|
NM_001267550.2(TTN):c.88720C>T (p.Arg29574Cys)
|
rs200513274
|
0.00029
|
NM_014874.4(MFN2):c.2119C>T (p.Arg707Trp)
|
rs119103267
|
0.00029
|
NM_000049.4(ASPA):c.854A>C (p.Glu285Ala)
|
rs28940279
|
0.00028
|
NM_001754.5(RUNX1):c.155T>A (p.Met52Lys)
|
rs200431130
|
0.00028
|
NM_002693.3(POLG):c.2542G>A (p.Gly848Ser)
|
rs113994098
|
0.00028
|
NM_004104.5(FASN):c.6155G>C (p.Gly2052Ala)
|
rs780846548
|
0.00028
|
NM_024120.5(NDUFAF5):c.327G>C (p.Lys109Asn)
|
rs150613320
|
0.00028
|
NM_007046.4(EMILIN1):c.1781G>A (p.Arg594His)
|
rs200339477
|
0.00027
|
NM_000426.4(LAMA2):c.6229G>A (p.Ala2077Thr)
|
rs142264176
|
0.00026
|
NM_001111125.3(IQSEC2):c.188A>G (p.Glu63Gly)
|
rs782051125
|
0.00026
|
NM_000466.3(PEX1):c.2528G>A (p.Gly843Asp)
|
rs61750420
|
0.00025
|
NM_000540.3(RYR1):c.6478G>A (p.Gly2160Ser)
|
rs143398211
|
0.00025
|
NM_002386.4(MC1R):c.652G>A (p.Ala218Thr)
|
rs200965363
|
0.00025
|
NM_003850.3(SUCLA2):c.1270G>A (p.Gly424Arg)
|
rs144441199
|
0.00025
|
NM_004119.3(FLT3):c.2211G>C (p.Met737Ile)
|
rs148592477
|
0.00025
|
NM_004329.3(BMPR1A):c.1433G>A (p.Arg478His)
|
rs113849804
|
0.00025
|
NM_004667.6(HERC2):c.3133C>T (p.Arg1045Cys)
|
rs117802902
|
0.00025
|
NM_018685.5(ANLN):c.31C>T (p.Arg11Ter)
|
rs200989750
|
0.00025
|
NM_022095.4(ZNF335):c.3998A>G (p.Glu1333Gly)
|
rs200635860
|
0.00025
|
NM_144991.3(TSPEAR):c.542+15G>A
|
rs587599565
|
0.00025
|
NM_203447.4(DOCK8):c.5828C>T (p.Thr1943Ile)
|
rs148368084
|
0.00025
|
NM_001163809.2(WDR81):c.5582C>T (p.Pro1861Leu)
|
rs151078477
|
0.00024
|
NM_001278669.2(NFATC1):c.860C>T (p.Pro287Leu)
|
rs200533002
|
0.00024
|
NM_001322934.2(NFKB2):c.1972C>T (p.Arg658Trp)
|
rs200373995
|
0.00024
|
NM_006907.4(PYCR1):c.508G>A (p.Val170Ile)
|
rs199585131
|
0.00024
|
NM_020738.4(KIDINS220):c.974A>G (p.Asn325Ser)
|
rs77973158
|
0.00024
|
NM_001163435.3(TBCK):c.376C>T (p.Arg126Ter)
|
rs575822089
|
0.00023
|
NM_000093.5(COL5A1):c.1637C>T (p.Ala546Val)
|
rs557361751
|
0.00022
|
NM_000290.4(PGAM2):c.707A>C (p.Glu236Ala)
|
rs140230479
|
0.00022
|
NM_020925.4(CACHD1):c.293G>A (p.Arg98His)
|
rs201614737
|
0.00022
|
NM_022915.5(MRPL44):c.496G>A (p.Val166Met)
|
rs141821599
|
0.00022
|
NM_138395.4(MARS2):c.697A>G (p.Ile233Val)
|
rs150082953
|
0.00022
|
NM_178857.6(RP1L1):c.2927C>T (p.Ala976Val)
|
rs200854148
|
0.00022
|
NM_000089.4(COL1A2):c.1295G>A (p.Arg432Gln)
|
rs139446305
|
0.00021
|
NM_000260.4(MYO7A):c.2476G>A (p.Ala826Thr)
|
rs368341987
|
0.00021
|
NM_000744.7(CHRNA4):c.296G>A (p.Arg99His)
|
rs143103435
|
0.00021
|
NM_001267550.2(TTN):c.18745G>A (p.Asp6249Asn)
|
rs201263441
|
0.00021
|
NM_017617.5(NOTCH1):c.2263_2265del (p.Asn755del)
|
rs587778559
|
0.00021
|
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_001083614.2(EARS2):c.322C>T (p.Arg108Trp)
|
rs376103091
|
0.00020
|
NM_021228.3(SCAF1):c.457G>T (p.Ala153Ser)
|
rs138792343
|
0.00020
|
NM_000393.5(COL5A2):c.4362T>A (p.Asn1454Lys)
|
rs372170366
|
0.00019
|
NM_000492.4(CFTR):c.3846G>A (p.Trp1282Ter)
|
rs77010898
|
0.00019
|
NM_001101362.3(KBTBD13):c.331G>A (p.Asp111Asn)
|
rs567309902
|
0.00019
|
NM_001164508.2(NEB):c.18410C>T (p.Thr6137Met)
|
rs201462794
|
0.00019
|
NM_001814.6(CTSC):c.259A>G (p.Ile87Val)
|
rs45447392
|
0.00019
|
NM_006329.4(FBLN5):c.268G>A (p.Gly90Ser)
|
rs144288844
|
0.00019
|
NM_018941.4(CLN8):c.50A>G (p.Asp17Gly)
|
rs148668081
|
0.00019
|
NM_030928.4(CDT1):c.1154G>A (p.Arg385His)
|
rs143840572
|
0.00019
|
NM_033343.4(LHX4):c.1052C>T (p.Thr351Met)
|
rs200119009
|
0.00019
|
NM_080680.3(COL11A2):c.4854C>G (p.Asp1618Glu)
|
rs151319255
|
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_000054.7(AVPR2):c.797T>C (p.Val266Ala)
|
rs111643041
|
0.00017
|
NM_000371.4(TTR):c.14G>A (p.Arg5His)
|
rs138657343
|
0.00017
|
NM_012330.4(KAT6B):c.2448G>A (p.Thr816=)
|
rs372149429
|
0.00017
|
NM_014855.3(AP5Z1):c.2053C>T (p.Arg685Cys)
|
rs367867460
|
0.00017
|
NM_172250.3(MMAA):c.433C>T (p.Arg145Ter)
|
rs104893851
|
0.00017
|
NM_000492.4(CFTR):c.3909C>G (p.Asn1303Lys)
|
rs80034486
|
0.00016
|
NM_001035.3(RYR2):c.8145G>T (p.Glu2715Asp)
|
rs200420897
|
0.00016
|
NM_001040142.2(SCN2A):c.4565G>C (p.Gly1522Ala)
|
rs147522594
|
0.00016
|
NM_001164508.2(NEB):c.21797C>T (p.Pro7266Leu)
|
rs367626762
|
0.00016
|
NM_001458.5(FLNC):c.1081C>T (p.Arg361Cys)
|
rs200206944
|
0.00016
|
NM_005245.4(FAT1):c.9095T>C (p.Ile3032Thr)
|
rs34805028
|
0.00016
|
NM_006371.5(CRTAP):c.866C>T (p.Pro289Leu)
|
rs147140948
|
0.00016
|
NM_014384.3(ACAD8):c.1129G>A (p.Gly377Ser)
|
rs121908419
|
0.00016
|
NM_052867.4(NALCN):c.2307T>G (p.His769Gln)
|
rs147070169
|
0.00016
|
NM_080680.3(COL11A2):c.2921C>T (p.Ala974Val)
|
rs376797260
|
0.00016
|
NM_138441.3(CGAS):c.265_266dup (p.Gln89fs)
|
rs749545076
|
0.00016
|
NM_145207.3(AFG2A):c.1912A>G (p.Lys638Glu)
|
rs560475969
|
0.00016
|
NM_152269.5(MTRFR):c.210del (p.Gly72fs)
|
rs576462794
|
0.00016
|
NM_174878.3(CLRN1):c.144T>G (p.Asn48Lys)
|
rs111033258
|
0.00016
|
NM_213720.3(CHCHD10):c.239C>T (p.Pro80Leu)
|
rs775332895
|
0.00016
|
NM_001080.3(ALDH5A1):c.1316C>T (p.Thr439Ile)
|
rs139633130
|
0.00015
|
NM_001365276.2(TNXB):c.1480A>T (p.Thr494Ser)
|
rs770149701
|
0.00015
|
NM_003900.5(SQSTM1):c.352C>T (p.Pro118Ser)
|
rs200152247
|
0.00015
|
NM_007194.4(CHEK2):c.190G>A (p.Glu64Lys)
|
rs141568342
|
0.00015
|
NM_020166.5(MCCC1):c.1894C>T (p.Pro632Ser)
|
rs142867987
|
0.00015
|
NM_024721.5(ZFHX4):c.5362G>A (p.Val1788Ile)
|
rs200415399
|
0.00015
|
NM_000145.4(FSHR):c.1669C>T (p.Arg557Trp)
|
rs374191266
|
0.00014
|
NM_000426.4(LAMA2):c.4969G>A (p.Val1657Met)
|
rs370971334
|
0.00014
|
NM_000540.3(RYR1):c.3095G>A (p.Arg1032His)
|
rs141942845
|
0.00014
|
NM_001002913.3(PTRH1):c.20T>C (p.Leu7Ser)
|
rs538247883
|
0.00014
|
NM_001009944.3(PKD1):c.8041C>T (p.Arg2681Cys)
|
rs540634317
|
0.00014
|
NM_001194998.2(CEP152):c.2777A>T (p.Glu926Val)
|
rs117557829
|
0.00014
|
NM_001458.5(FLNC):c.5020G>A (p.Gly1674Ser)
|
rs374124083
|
0.00014
|
NM_002485.5(NBN):c.456G>A (p.Met152Ile)
|
rs201816949
|
0.00014
|
NM_004606.5(TAF1):c.235+3G>A
|
rs368024152
|
0.00014
|
NM_004667.6(HERC2):c.8329A>G (p.Met2777Val)
|
rs184647895
|
0.00014
|
NM_014008.5(CCDC22):c.1402C>G (p.Arg468Gly)
|
rs781907239
|
0.00014
|
NM_178862.3(STT3B):c.895A>G (p.Ile299Val)
|
rs141238380
|
0.00014
|
NM_000251.3(MSH2):c.2425G>A (p.Glu809Lys)
|
rs202145681
|
0.00013
|
NM_001365276.2(TNXB):c.5491G>A (p.Val1831Met)
|
rs188124424
|
0.00013
|
NM_002016.2(FLG):c.2362C>T (p.Arg788Ter)
|
rs183942200
|
0.00013
|
NM_002907.4(RECQL):c.86C>T (p.Thr29Met)
|
rs145067169
|
0.00013
|
NM_004260.4(RECQL4):c.2420G>A (p.Arg807His)
|
rs571684398
|
0.00013
|
NM_006005.3(WFS1):c.124C>T (p.Arg42Ter)
|
rs71530923
|
0.00013
|
NM_006996.3(SLC19A2):c.319A>G (p.Ser107Gly)
|
rs113927216
|
0.00013
|
NM_018129.4(PNPO):c.98A>T (p.Asp33Val)
|
rs370243877
|
0.00013
|
NM_021628.3(ALOXE3):c.700C>T (p.Arg234Ter)
|
rs121434233
|
0.00013
|
NM_000243.3(MEFV):c.2080A>G (p.Met694Val)
|
rs61752717
|
0.00012
|
NM_001244008.2(KIF1A):c.1856C>T (p.Ala619Val)
|
rs765812659
|
0.00012
|
NM_007255.3(B4GALT7):c.185G>A (p.Arg62Lys)
|
rs373059256
|
0.00012
|
NM_017872.5(THG1L):c.164T>C (p.Val55Ala)
|
rs201920319
|
0.00012
|
NM_018100.4(EFHC1):c.817G>T (p.Val273Leu)
|
rs369926953
|
0.00012
|
NM_053025.4(MYLK):c.2060C>T (p.Pro687Leu)
|
rs144923036
|
0.00012
|
NM_053025.4(MYLK):c.2474C>T (p.Pro825Leu)
|
rs201332554
|
0.00012
|
NM_000093.5(COL5A1):c.5136+73G>A
|
rs560195385
|
0.00011
|
NM_000110.4(DPYD):c.2303C>A (p.Thr768Lys)
|
rs56005131
|
0.00011
|
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_001370466.1(NOD2):c.1709C>T (p.Ala570Val)
|
rs377554134
|
0.00011
|
NM_002103.5(GYS1):c.1121A>G (p.Asn374Ser)
|
rs200672892
|
0.00011
|
NM_006231.4(POLE):c.6658-7C>A
|
rs531482240
|
0.00011
|
NM_007315.4(STAT1):c.274-4C>G
|
rs377209172
|
0.00011
|
NM_201384.3(PLEC):c.2165C>T (p.Ala722Val)
|
rs375178454
|
0.00011
|
NM_000053.4(ATP7B):c.2333G>T (p.Arg778Leu)
|
rs28942074
|
0.00010
|
NM_000256.3(MYBPC3):c.1504C>T (p.Arg502Trp)
|
rs375882485
|
0.00010
|
NM_000306.4(POU1F1):c.40C>G (p.Pro14Ala)
|
rs200873915
|
0.00010
|
NM_000551.4(VHL):c.598C>T (p.Arg200Trp)
|
rs28940298
|
0.00010
|
NM_001083614.2(EARS2):c.164G>A (p.Arg55His)
|
rs770862902
|
0.00010
|
NM_001939.3(DRP2):c.1927G>A (p.Ala643Thr)
|
rs774673009
|
0.00010
|
NM_002633.3(PGM1):c.1107C>A (p.Ser369Arg)
|
rs200407907
|
0.00010
|
NM_003465.3(CHIT1):c.1125C>A (p.Tyr375Ter)
|
rs149987600
|
0.00010
|
NM_005529.7(HSPG2):c.11200G>A (p.Glu3734Lys)
|
rs757541406
|
0.00010
|
NM_006516.4(SLC2A1):c.312C>G (p.Phe104Leu)
|
rs76672402
|
0.00010
|
NM_015937.6(PIGT):c.988C>T (p.Arg330Ter)
|
rs201317502
|
0.00010
|
NM_030777.4(SLC2A10):c.691C>T (p.Arg231Trp)
|
rs146579504
|
0.00010
|
NM_133259.4(LRPPRC):c.2610G>C (p.Glu870Asp)
|
rs139192988
|
0.00010
|
NM_152564.5(VPS13B):c.6657+1G>A
|
rs180177366
|
0.00010
|
NM_183050.4(BCKDHB):c.548G>C (p.Arg183Pro)
|
rs79761867
|
0.00010
|
NM_201384.3(PLEC):c.3460C>T (p.Arg1154Trp)
|
rs782544250
|
0.00010
|
NM_212482.4(FN1):c.5651A>G (p.Tyr1884Cys)
|
rs199890235
|
0.00010
|
NM_000093.5(COL5A1):c.1303C>G (p.Pro435Ala)
|
rs377488010
|
0.00009
|
NM_000093.5(COL5A1):c.3023C>T (p.Thr1008Met)
|
rs199735010
|
0.00009
|
NM_000441.2(SLC26A4):c.2015G>A (p.Gly672Glu)
|
rs111033309
|
0.00009
|
NM_000718.4(CACNA1B):c.6749C>T (p.Pro2250Leu)
|
rs202102427
|
0.00009
|
NM_001081.4(CUBN):c.7646C>T (p.Thr2549Met)
|
rs537292240
|
0.00009
|
NM_001110556.2(FLNA):c.2123G>A (p.Arg708Gln)
|
rs371707134
|
0.00009
|
NM_001128126.3(AP4S1):c.289C>T (p.Arg97Ter)
|
rs200440467
|
0.00009
|
NM_001164508.2(NEB):c.194C>T (p.Pro65Leu)
|
rs375909006
|
0.00009
|
NM_001394065.1(CCDC190):c.88C>T (p.Gln30Ter)
|
rs756079140
|
0.00009
|
NM_004287.5(GOSR2):c.430G>T (p.Gly144Trp)
|
rs387906881
|
0.00009
|
NM_005559.4(LAMA1):c.1274G>C (p.Gly425Ala)
|
rs368665310
|
0.00009
|
NM_005732.4(RAD50):c.2840T>C (p.Ile947Thr)
|
rs150401251
|
0.00009
|
NM_007194.4(CHEK2):c.349A>G (p.Arg117Gly)
|
rs28909982
|
0.00009
|
NM_000384.3(APOB):c.13175G>A (p.Ser4392Asn)
|
rs777718986
|
0.00008
|
NM_001035.3(RYR2):c.3721G>A (p.Val1241Ile)
|
rs185715460
|
0.00008
|
NM_001131016.2(CIZ1):c.2032-138A>G
|
rs759174857
|
0.00008
|
NM_002437.5(MPV17):c.191C>G (p.Pro64Arg)
|
rs375401970
|
0.00008
|
NM_004370.6(COL12A1):c.2879C>T (p.Thr960Met)
|
rs200698641
|
0.00008
|
NM_006922.4(SCN3A):c.3589A>G (p.Lys1197Glu)
|
rs530839611
|
0.00008
|
NM_007078.3(LDB3):c.715G>A (p.Val239Ile)
|
rs201417512
|
0.00008
|
NM_019023.5(PRMT7):c.1056-1G>T
|
rs201824659
|
0.00008
|
NM_020442.6(VARS2):c.1850C>T (p.Thr617Met)
|
rs367837827
|
0.00008
|
NM_138694.4(PKHD1):c.664A>G (p.Ile222Val)
|
rs369925690
|
0.00008
|
NM_000016.6(ACADM):c.250C>T (p.Leu84Phe)
|
rs762114560
|
0.00007
|
NM_000051.4(ATM):c.749G>A (p.Arg250Gln)
|
rs56123940
|
0.00007
|
NM_001378609.3(OTOGL):c.1585C>T (p.Gln529Ter)
|
rs371465450
|
0.00007
|
NM_001999.4(FBN2):c.3839C>T (p.Ser1280Leu)
|
rs200481467
|
0.00007
|
NM_001999.4(FBN2):c.8530G>A (p.Val2844Ile)
|
rs147134796
|
0.00007
|
NM_002454.3(MTRR):c.1573C>T (p.Arg525Ter)
|
rs147277149
|
0.00007
|
NM_002878.4(RAD51D):c.394G>A (p.Val132Ile)
|
rs201141245
|
0.00007
|
NM_002905.5(RDH5):c.190G>A (p.Gly64Arg)
|
rs753970388
|
0.00007
|
NM_005262.3(GFER):c.586C>T (p.Arg196Cys)
|
rs370475970
|
0.00007
|
NM_006248.4(PRB2):c.511C>T (p.Arg171Ter)
|
rs201606820
|
0.00007
|
NM_014239.4(EIF2B2):c.638A>G (p.Glu213Gly)
|
rs104894425
|
0.00007
|
NM_020745.4(AARS2):c.595C>T (p.Arg199Cys)
|
rs200105202
|
0.00007
|
NM_054012.4(ASS1):c.535T>C (p.Trp179Arg)
|
rs121908646
|
0.00007
|
NM_153700.2(STRC):c.379C>T (p.Arg127Ter)
|
rs771264491
|
0.00007
|
NM_203447.4(DOCK8):c.2383G>C (p.Val795Leu)
|
rs369449324
|
0.00007
|
NM_000017.4(ACADS):c.1192C>T (p.Gln398Ter)
|
rs767774362
|
0.00006
|
NM_000051.4(ATM):c.7271T>G (p.Val2424Gly)
|
rs28904921
|
0.00006
|
NM_000059.4(BRCA2):c.3922G>T (p.Glu1308Ter)
|
rs80358638
|
0.00006
|
NM_000090.4(COL3A1):c.1526G>A (p.Arg509His)
|
rs568986390
|
0.00006
|
NM_000093.5(COL5A1):c.1831C>T (p.Arg611Trp)
|
rs147329970
|
0.00006
|
NM_000249.4(MLH1):c.955G>A (p.Glu319Lys)
|
rs63750796
|
0.00006
|
NM_000251.3(MSH2):c.382C>G (p.Leu128Val)
|
rs145649774
|
0.00006
|
NM_000350.3(ABCA4):c.4469G>A (p.Cys1490Tyr)
|
rs61751402
|
0.00006
|
NM_000426.4(LAMA2):c.409G>A (p.Ala137Thr)
|
rs368349321
|
0.00006
|
NM_000426.4(LAMA2):c.5158G>C (p.Glu1720Gln)
|
rs760572086
|
0.00006
|
NM_000466.3(PEX1):c.2843G>A (p.Arg948Gln)
|
rs535271603
|
0.00006
|
NM_000517.4(HBA2):c.427T>C (p.Ter143Gln)
|
rs41464951
|
0.00006
|
NM_000540.3(RYR1):c.10219G>A (p.Ala3407Thr)
|
rs143533100
|
0.00006
|
NM_000642.3(AGL):c.3980G>A (p.Trp1327Ter)
|
rs267606640
|
0.00006
|
NM_001099274.3(TINF2):c.936C>A (p.Tyr312Ter)
|
rs201677741
|
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_001267550.2(TTN):c.106537A>G (p.Lys35513Glu)
|
rs551063889
|
0.00006
|
NM_001367479.1(DNAH14):c.11777-2A>G
|
rs984710416
|
0.00006
|
NM_001367624.2(ZNF469):c.5779C>T (p.Pro1927Ser)
|
rs537085488
|
0.00006
|
NM_001723.7(DST):c.6449A>G (p.Lys2150Arg)
|
rs755587547
|
0.00006
|
NM_001747.4(CAPG):c.454G>T (p.Glu152Ter)
|
rs142762000
|
0.00006
|
NM_001852.4(COL9A2):c.1123C>G (p.Arg375Gly)
|
rs375476174
|
0.00006
|
NM_002317.7(LOX):c.741T>G (p.Ser247Arg)
|
rs768419742
|
0.00006
|
NM_002529.4(NTRK1):c.470G>A (p.Arg157His)
|
rs141021604
|
0.00006
|
NM_002691.4(POLD1):c.1562G>A (p.Arg521Gln)
|
rs143076166
|
0.00006
|
NM_002693.3(POLG):c.2601T>C (p.Pro867=)
|
rs201749977
|
0.00006
|
NM_003119.4(SPG7):c.2228T>C (p.Ile743Thr)
|
rs752623413
|
0.00006
|
NM_003384.3(VRK1):c.1072C>T (p.Arg358Ter)
|
rs137853063
|
0.00006
|
NM_003480.4(MFAP5):c.355G>A (p.Val119Ile)
|
rs192822432
|
0.00006
|
NM_004525.3(LRP2):c.2540G>A (p.Arg847His)
|
rs537125368
|
0.00006
|
NM_005027.4(PIK3R2):c.379C>T (p.Leu127Phe)
|
rs542398089
|
0.00006
|
NM_006031.6(PCNT):c.5341G>A (p.Gly1781Arg)
|
rs200137805
|
0.00006
|
NM_014915.3(ANKRD26):c.4636G>C (p.Asp1546His)
|
rs753924410
|
0.00006
|
NM_015937.6(PIGT):c.1582G>A (p.Val528Met)
|
rs771157170
|
0.00006
|
NM_016011.5(MECR):c.830+2dup
|
rs756421370
|
0.00006
|
NM_017755.6(NSUN2):c.2026G>A (p.Val676Ile)
|
rs773052587
|
0.00006
|
NM_018368.4(LMBRD1):c.1438A>G (p.Thr480Ala)
|
rs138023744
|
0.00006
|
NM_018368.4(LMBRD1):c.1510G>T (p.Val504Leu)
|
rs980145400
|
0.00006
|
NM_020812.4(DOCK6):c.6097C>T (p.Leu2033Phe)
|
rs556988328
|
0.00006
|
NM_021098.3(CACNA1H):c.5608G>A (p.Ala1870Thr)
|
rs375010790
|
0.00006
|
NM_058216.3(RAD51C):c.967T>C (p.Leu323=)
|
rs747727600
|
0.00006
|
NM_130837.3(OPA1):c.1877G>A (p.Arg626His)
|
rs140606054
|
0.00006
|
NM_144687.4(NLRP12):c.1027C>T (p.Arg343Trp)
|
rs112159191
|
0.00006
|
NM_172369.5(C1QC):c.538G>A (p.Val180Met)
|
rs200292688
|
0.00006
|
NM_181882.3(PRX):c.4219T>G (p.Ser1407Ala)
|
rs146468976
|
0.00006
|
NM_198576.4(AGRN):c.5416C>T (p.Arg1806Trp)
|
rs757150379
|
0.00006
|
NM_000136.3(FANCC):c.1406C>T (p.Thr469Met)
|
rs149917017
|
0.00005
|
NM_000292.3(PHKA2):c.2137+5G>A
|
rs372314504
|
0.00005
|
NM_001042492.3(NF1):c.1588G>A (p.Val530Ile)
|
rs145191978
|
0.00005
|
NM_001099922.3(ALG13):c.1831C>T (p.Leu611Phe)
|
rs199505558
|
0.00005
|
NM_001376013.1(EPB41):c.2047G>C (p.Ala683Pro)
|
rs199764020
|
0.00005
|
NM_004370.6(COL12A1):c.2968G>T (p.Asp990Tyr)
|
rs201996851
|
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_015937.6(PIGT):c.918dup (p.Val307fs)
|
rs751861982
|
0.00005
|
NM_018006.5(TRMU):c.880C>T (p.Arg294Trp)
|
rs773745635
|
0.00005
|
NM_145239.3(PRRT2):c.773G>A (p.Gly258Glu)
|
rs560303559
|
0.00005
|
NM_181523.3(PIK3R1):c.305C>T (p.Ser102Leu)
|
rs368742778
|
0.00005
|
NM_198576.4(AGRN):c.6022G>A (p.Ala2008Thr)
|
rs766962416
|
0.00005
|
NM_000038.6(APC):c.6977G>A (p.Arg2326Gln)
|
rs531178000
|
0.00004
|
NM_000053.4(ATP7B):c.3451C>T (p.Arg1151Cys)
|
rs755554442
|
0.00004
|
NM_000059.4(BRCA2):c.9382C>T (p.Arg3128Ter)
|
rs80359212
|
0.00004
|
NM_000088.4(COL1A1):c.4067G>A (p.Arg1356His)
|
rs149820303
|
0.00004
|
NM_000090.4(COL3A1):c.3462T>G (p.Ser1154Arg)
|
rs769100283
|
0.00004
|
NM_000135.4(FANCA):c.3665C>T (p.Pro1222Leu)
|
rs374537936
|
0.00004
|
NM_000238.4(KCNH2):c.2863C>G (p.Leu955Val)
|
rs199473012
|
0.00004
|
NM_000289.6(PFKM):c.59T>C (p.Val20Ala)
|
rs755992543
|
0.00004
|
NM_000335.5(SCN5A):c.5827C>T (p.Arg1943Ter)
|
rs794728940
|
0.00004
|
NM_000454.5(SOD1):c.14C>T (p.Ala5Val)
|
rs121912442
|
0.00004
|
NM_000455.5(STK11):c.316C>T (p.Arg106Trp)
|
rs587782115
|
0.00004
|
NM_000501.4(ELN):c.92G>A (p.Gly31Glu)
|
rs782625771
|
0.00004
|
NM_000527.5(LDLR):c.1444G>A (p.Asp482Asn)
|
rs139624145
|
0.00004
|
NM_000593.6(TAP1):c.1564C>T (p.Gln522Ter)
|
rs967210854
|
0.00004
|
NM_000692.5(ALDH1B1):c.319C>T (p.Arg107Cys)
|
rs770857076
|
0.00004
|
NM_001008537.3(NEXMIF):c.4268G>A (p.Arg1423His)
|
rs750153892
|
0.00004
|
NM_001042545.2(LTBP4):c.4024G>A (p.Ala1342Thr)
|
rs370362292
|
0.00004
|
NM_001135055.2:c.769_770insCTACCTCCTTATCTTCTG
|
rs781905246
|
0.00004
|
NM_001171.6(ABCC6):c.1552C>T (p.Arg518Ter)
|
rs72650700
|
0.00004
|
NM_001171.6(ABCC6):c.4182del (p.Lys1394fs)
|
rs67791546
|
0.00004
|
NM_001206744.2(TPO):c.387del (p.Asn129fs)
|
rs766399662
|
0.00004
|
NM_001267550.2(TTN):c.5582G>A (p.Arg1861His)
|
rs140914855
|
0.00004
|
NM_001267550.2(TTN):c.9443G>A (p.Arg3148His)
|
rs368786036
|
0.00004
|
NM_001291303.3(FAT4):c.9235A>G (p.Ile3079Val)
|
rs138817920
|
0.00004
|
NM_001367624.2(ZNF469):c.3332T>C (p.Phe1111Ser)
|
rs765069829
|
0.00004
|
NM_001378454.1(ALMS1):c.9083G>A (p.Cys3028Tyr)
|
rs565501407
|
0.00004
|
NM_001854.4(COL11A1):c.2644C>T (p.Arg882Cys)
|
rs749003514
|
0.00004
|
NM_001854.4(COL11A1):c.281C>T (p.Thr94Ile)
|
rs1283924469
|
0.00004
|
NM_001927.4(DES):c.1243C>T (p.Arg415Trp)
|
rs751942358
|
0.00004
|
NM_001999.4(FBN2):c.3805A>G (p.Ser1269Gly)
|
rs765649978
|
0.00004
|
NM_002485.5(NBN):c.721G>A (p.Ala241Thr)
|
rs587781333
|
0.00004
|
NM_002860.4(ALDH18A1):c.169C>A (p.His57Asn)
|
rs200858692
|
0.00004
|
NM_002878.4(RAD51D):c.796C>T (p.Arg266Cys)
|
rs587781813
|
0.00004
|
NM_003573.2(LTBP4):c.172C>T (p.Pro58Ser)
|
rs373445028
|
0.00004
|
NM_003721.4(RFXANK):c.639C>T (p.Gly213=)
|
rs745918077
|
0.00004
|
NM_003848.4(SUCLG2):c.1082A>G (p.Asn361Ser)
|
rs746196486
|
0.00004
|
NM_003995.4(NPR2):c.1922C>T (p.Ser641Leu)
|
rs202053091
|
0.00004
|
NM_004972.4(JAK2):c.2571+5A>C
|
rs775085241
|
0.00004
|
NM_005422.4(TECTA):c.4180C>A (p.Leu1394Met)
|
rs776389341
|
0.00004
|
NM_007055.4(POLR3A):c.760C>T (p.Arg254Ter)
|
rs141659018
|
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_014141.6(CNTNAP2):c.1385G>A (p.Arg462His)
|
rs774717843
|
0.00004
|
NM_014844.5(TECPR2):c.1327A>G (p.Arg443Gly)
|
rs199977652
|
0.00004
|
NM_016077.5(PTRH2):c.101G>A (p.Arg34Gln)
|
rs763600816
|
0.00004
|
NM_017739.4(POMGNT1):c.1927T>G (p.Phe643Val)
|
rs199534074
|
0.00004
|
NM_017825.3(ADPRS):c.340_341del (p.Arg114fs)
|
rs768832709
|
0.00004
|
NM_017827.4(SARS2):c.694C>T (p.Arg232Cys)
|
rs201347156
|
0.00004
|
NM_018026.4(PACS1):c.1069G>A (p.Glu357Lys)
|
rs750459659
|
0.00004
|
NM_020247.5(COQ8A):c.811C>T (p.Arg271Cys)
|
rs145034527
|
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_053274.3(GLMN):c.978-4T>C
|
rs750401776
|
0.00004
|
NM_201384.3(PLEC):c.265-9T>G
|
rs376483549
|
0.00004
|
NM_203447.4(DOCK8):c.2971-5C>T
|
rs373718659
|
0.00004
|
NM_206933.4(USH2A):c.7595-2144A>G
|
rs786200928
|
0.00004
|
NM_000038.6(APC):c.757G>A (p.Gly253Ser)
|
rs772806807
|
0.00003
|
NM_000047.3(ARSL):c.23G>C (p.Cys8Ser)
|
rs1057521599
|
0.00003
|
NM_000059.4(BRCA2):c.4357A>G (p.Lys1453Glu)
|
rs397507330
|
0.00003
|
NM_000093.5(COL5A1):c.739G>A (p.Ala247Thr)
|
rs769115550
|
0.00003
|
NM_000143.4(FH):c.698G>A (p.Arg233His)
|
rs121913123
|
0.00003
|
NM_000256.3(MYBPC3):c.1624+4A>T
|
rs397515916
|
0.00003
|
NM_000287.4(PEX6):c.1876C>T (p.Arg626Trp)
|
rs374278186
|
0.00003
|
NM_000465.4(BARD1):c.2171C>T (p.Ala724Val)
|
rs587782662
|
0.00003
|
NM_000507.4(FBP1):c.541G>A (p.Gly181Arg)
|
rs1372801499
|
0.00003
|
NM_000525.4(KCNJ11):c.47G>A (p.Arg16His)
|
rs770609243
|
0.00003
|
NM_000535.7(PMS2):c.924G>C (p.Glu308Asp)
|
rs114185660
|
0.00003
|
NM_000540.3(RYR1):c.7244G>A (p.Arg2415Gln)
|
rs201584482
|
0.00003
|
NM_000821.7(GGCX):c.763G>A (p.Val255Met)
|
rs121909683
|
0.00003
|
NM_001031679.3(MSRB3):c.80C>T (p.Ser27Leu)
|
rs370812570
|
0.00003
|
NM_001101426.4(CRPPA):c.643C>T (p.Gln215Ter)
|
rs370627877
|
0.00003
|
NM_001103.4(ACTN2):c.2555G>A (p.Arg852Gln)
|
rs727502888
|
0.00003
|
NM_001163809.2(WDR81):c.626C>A (p.Pro209His)
|
rs200343855
|
0.00003
|
NM_001171.6(ABCC6):c.3904G>A (p.Gly1302Arg)
|
rs63749856
|
0.00003
|
NM_001256317.3(TMPRSS3):c.566A>T (p.Tyr189Phe)
|
rs781338726
|
0.00003
|
NM_001267550.2(TTN):c.9610C>T (p.Arg3204Ter)
|
rs757836789
|
0.00003
|
NM_001349253.2(SCN11A):c.5051A>T (p.Asp1684Val)
|
rs370826330
|
0.00003
|
NM_001365999.1(SZT2):c.4054G>T (p.Gly1352Cys)
|
rs147607647
|
0.00003
|
NM_001371623.1(TCOF1):c.1598C>T (p.Thr533Ile)
|
rs377521530
|
0.00003
|
NM_001378120.1(MBD5):c.709A>G (p.Ile237Val)
|
rs751251720
|
0.00003
|
NM_001822.7(CHN1):c.1301C>T (p.Ala434Val)
|
rs778517881
|
0.00003
|
NM_001845.6(COL4A1):c.922G>A (p.Gly308Arg)
|
rs370677625
|
0.00003
|
NM_002905.5(RDH5):c.285G>A (p.Trp95Ter)
|
rs774122562
|
0.00003
|
NM_003119.4(SPG7):c.637C>T (p.Arg213Ter)
|
rs774774648
|
0.00003
|
NM_003805.5(CRADD):c.503G>A (p.Arg168Gln)
|
rs563879626
|
0.00003
|
NM_004830.4(MED23):c.2417T>C (p.Ile806Thr)
|
rs1416942996
|
0.00003
|
NM_004946.3(DOCK2):c.1288C>G (p.Leu430Val)
|
rs370264550
|
0.00003
|
NM_005476.7(GNE):c.1844C>G (p.Ser615Ter)
|
rs757523840
|
0.00003
|
NM_005629.4(SLC6A8):c.1601T>C (p.Ile534Thr)
|
rs797045971
|
0.00003
|
NM_005902.4(SMAD3):c.394A>G (p.Thr132Ala)
|
rs371876622
|
0.00003
|
NM_006231.4(POLE):c.1676G>A (p.Arg559Gln)
|
rs766276875
|
0.00003
|
NM_006231.4(POLE):c.3377C>T (p.Ala1126Val)
|
rs373707446
|
0.00003
|
NM_014974.3(DIP2C):c.692G>A (p.Arg231Gln)
|
rs756894472
|
0.00003
|
NM_015158.5(KANK1):c.1811G>A (p.Ser604Asn)
|
rs754470891
|
0.00003
|
NM_015713.5(RRM2B):c.671T>G (p.Ile224Ser)
|
rs515726196
|
0.00003
|
NM_016138.5(COQ7):c.446A>G (p.Tyr149Cys)
|
rs760710474
|
0.00003
|
NM_016194.4(GNB5):c.368C>T (p.Ser123Leu)
|
rs761399728
|
0.00003
|
NM_020297.4(ABCC9):c.4535C>T (p.Thr1512Met)
|
rs554811993
|
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_020921.4(NIN):c.5275T>C (p.Ser1759Pro)
|
rs201212734
|
0.00003
|
NM_020925.4(CACHD1):c.3244+3A>G
|
rs750499224
|
0.00003
|
NM_020975.6(RET):c.1737C>G (p.Asn579Lys)
|
rs144455821
|
0.00003
|
NM_022089.4(ATP13A2):c.*24C>T
|
rs375521810
|
0.00003
|
NM_022124.6(CDH23):c.2524C>T (p.Arg842Trp)
|
rs368496658
|
0.00003
|
NM_024422.6(DSC2):c.1663+4A>G
|
rs369849387
|
0.00003
|
NM_024678.6(NARS2):c.595-6T>G
|
rs774848576
|
0.00003
|
NM_031844.3(HNRNPU):c.1259C>T (p.Ser420Leu)
|
rs778010676
|
0.00003
|
NM_032043.3(BRIP1):c.2285G>A (p.Arg762His)
|
rs200960251
|
0.00003
|
NM_032380.5(GFM2):c.569G>A (p.Arg190Gln)
|
rs761283105
|
0.00003
|
NM_032634.4(PIGO):c.2092G>A (p.Glu698Lys)
|
rs571768342
|
0.00003
|
NM_033087.4(ALG2):c.449T>C (p.Phe150Ser)
|
rs377047079
|
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_152328.5(ADSS1):c.781G>A (p.Asp261Asn)
|
rs140614802
|
0.00003
|
NM_153816.6(SNX14):c.1108G>T (p.Glu370Ter)
|
rs201128942
|
0.00003
|
NM_198506.5(LRIT3):c.733C>T (p.Arg245Trp)
|
rs538101562
|
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_000083.3(CLCN1):c.1781G>T (p.Gly594Val)
|
rs746346988
|
0.00002
|
NM_000089.4(COL1A2):c.2755G>A (p.Gly919Ser)
|
rs749621872
|
0.00002
|
NM_000093.5(COL5A1):c.4508G>A (p.Arg1503His)
|
rs373653069
|
0.00002
|
NM_000102.4(CYP17A1):c.297+2T>C
|
rs764723654
|
0.00002
|
NM_000138.5(FBN1):c.3026C>G (p.Pro1009Arg)
|
rs148076256
|
0.00002
|
NM_000217.3(KCNA1):c.667A>G (p.Ile223Val)
|
rs146948558
|
0.00002
|
NM_000218.3(KCNQ1):c.1747C>T (p.Arg583Cys)
|
rs17221854
|
0.00002
|
NM_000238.4(KCNH2):c.3457C>T (p.His1153Tyr)
|
rs199473035
|
0.00002
|
NM_000256.3(MYBPC3):c.49C>T (p.Arg17Trp)
|
rs747857800
|
0.00002
|
NM_000260.4(MYO7A):c.940G>A (p.Glu314Lys)
|
rs782685774
|
0.00002
|
NM_000283.4(PDE6B):c.1580T>C (p.Leu527Pro)
|
rs760766981
|
0.00002
|
NM_000321.3(RB1):c.1981C>T (p.Arg661Trp)
|
rs137853294
|
0.00002
|
NM_000329.3(RPE65):c.130C>T (p.Arg44Ter)
|
rs368088025
|
0.00002
|
NM_000329.3(RPE65):c.304G>T (p.Glu102Ter)
|
rs62642584
|
0.00002
|
NM_000382.3(ALDH3A2):c.733G>A (p.Asp245Asn)
|
rs72547568
|
0.00002
|
NM_000393.5(COL5A2):c.1621G>T (p.Ala541Ser)
|
rs768348357
|
0.00002
|
NM_000393.5(COL5A2):c.3646G>A (p.Glu1216Lys)
|
rs755429175
|
0.00002
|
NM_000404.4(GLB1):c.841C>T (p.His281Tyr)
|
rs745386663
|
0.00002
|
NM_000489.6(ATRX):c.4070A>G (p.Lys1357Arg)
|
rs1064796812
|
0.00002
|
NM_000540.3(RYR1):c.14918C>T (p.Pro4973Leu)
|
rs146876145
|
0.00002
|
NM_000540.3(RYR1):c.3877C>A (p.Pro1293Thr)
|
rs146407179
|
0.00002
|
NM_000548.5(TSC2):c.1916G>A (p.Arg639Gln)
|
rs753932484
|
0.00002
|
NM_000553.6(WRN):c.3134A>G (p.Lys1045Arg)
|
rs369095273
|
0.00002
|
NM_001006658.3(CR2):c.3239G>A (p.Arg1080Gln)
|
rs768446701
|
0.00002
|
NM_001015877.2(PHF6):c.233C>T (p.Thr78Met)
|
rs767406620
|
0.00002
|
NM_001035.3(RYR2):c.1319C>T (p.Ala440Val)
|
rs758904216
|
0.00002
|
NM_001035.3(RYR2):c.9442G>A (p.Val3148Met)
|
rs876657994
|
0.00002
|
NM_001036.6(RYR3):c.10961C>T (p.Ala3654Val)
|
rs1462103365
|
0.00002
|
NM_001037.5(SCN1B):c.623A>T (p.Lys208Ile)
|
rs780958012
|
0.00002
|
NM_001079.4(ZAP70):c.342C>T (p.Val114=)
|
rs1008750552
|
0.00002
|
NM_001130987.2(DYSF):c.1718G>A (p.Arg573Gln)
|
rs755829878
|
0.00002
|
NM_001160148.2(DDHD1):c.1277A>G (p.Lys426Arg)
|
rs764461965
|
0.00002
|
NM_001164508.2(NEB):c.22159G>C (p.Asp7387His)
|
rs770527289
|
0.00002
|
NM_001164508.2(NEB):c.24040G>A (p.Val8014Ile)
|
rs182325166
|
0.00002
|
NM_001267550.2(TTN):c.99581C>T (p.Pro33194Leu)
|
rs140025425
|
0.00002
|
NM_001271803.2(REEP2):c.626C>G (p.Ala209Gly)
|
rs149979144
|
0.00002
|
NM_001365276.2(TNXB):c.6805C>T (p.Gln2269Ter)
|
rs749742731
|
0.00002
|
NM_001377.3(DYNC2H1):c.9037A>C (p.Ile3013Leu)
|
rs1250296341
|
0.00002
|
NM_001470.4(GABBR1):c.1477G>C (p.Val493Leu)
|
rs980473553
|
0.00002
|
NM_001849.4(COL6A2):c.1264G>A (p.Glu422Lys)
|
rs200167715
|
0.00002
|
NM_002506.3(NGF):c.146G>A (p.Arg49His)
|
rs781072056
|
0.00002
|
NM_002693.3(POLG):c.2665G>A (p.Ala889Thr)
|
rs763393580
|
0.00002
|
NM_003361.4(UMOD):c.1919A>G (p.Gln640Arg)
|
rs776685236
|
0.00002
|
NM_003673.4(TCAP):c.421C>G (p.Pro141Ala)
|
rs45509691
|
0.00002
|
NM_004370.6(COL12A1):c.43G>T (p.Ala15Ser)
|
rs1453508139
|
0.00002
|
NM_004700.4(KCNQ4):c.1502C>T (p.Thr501Ile)
|
rs200391496
|
0.00002
|
NM_005055.5(RAPSN):c.-210A>G
|
rs786200905
|
0.00002
|
NM_005198.5(CHKB):c.905A>T (p.Asp302Val)
|
rs775547378
|
0.00002
|
NM_005462.5(MAGEC1):c.984_1086del (p.Ser328fs)
|
rs1556442387
|
0.00002
|
NM_005908.4(MANBA):c.378+1G>A
|
rs142029636
|
0.00002
|
NM_006231.4(POLE):c.5468G>A (p.Arg1823His)
|
rs767747669
|
0.00002
|
NM_006946.4(SPTBN2):c.3929G>A (p.Arg1310His)
|
rs201852582
|
0.00002
|
NM_007325.5(GRIA3):c.609G>T (p.Arg203Ser)
|
rs147567539
|
0.00002
|
NM_014208.3(DSPP):c.2525del (p.Ser842fs)
|
rs1395922945
|
0.00002
|
NM_015047.3(EMC1):c.245C>T (p.Thr82Met)
|
rs869320625
|
0.00002
|
NM_016239.4(MYO15A):c.3385C>T (p.Arg1129Ter)
|
rs748868741
|
0.00002
|
NM_017514.5(PLXNA3):c.1985C>T (p.Thr662Met)
|
rs1343189326
|
0.00002
|
NM_018122.5(DARS2):c.788G>A (p.Arg263Gln)
|
rs121918207
|
0.00002
|
NM_020247.5(COQ8A):c.1717G>A (p.Asp573Asn)
|
rs1026198961
|
0.00002
|
NM_020549.5(CHAT):c.1451G>A (p.Arg484Gln)
|
rs771901229
|
0.00002
|
NM_022124.6(CDH23):c.5066T>C (p.Met1689Thr)
|
rs397517334
|
0.00002
|
NM_024675.4(PALB2):c.2903C>G (p.Ala968Gly)
|
rs369132015
|
0.00002
|
NM_025114.4(CEP290):c.3708dup (p.Arg1237fs)
|
rs758991387
|
0.00002
|
NM_030653.4(DDX11):c.2635C>T (p.Arg879Ter)
|
rs780059558
|
0.00002
|
NM_032409.3(PINK1):c.502G>C (p.Ala168Pro)
|
rs768091663
|
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_205836.3(FBXO38):c.3362G>A (p.Arg1121Gln)
|
rs149713669
|
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.7463G>A (p.Cys2488Tyr)
|
rs774281788
|
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.3264dup (p.Gln1089fs)
|
rs80359380
|
0.00001
|
NM_000059.4(BRCA2):c.4535G>A (p.Arg1512His)
|
rs80358685
|
0.00001
|
NM_000059.4(BRCA2):c.4567G>C (p.Gly1523Arg)
|
rs587781418
|
0.00001
|
NM_000059.4(BRCA2):c.7090G>A (p.Glu2364Lys)
|
rs80358940
|
0.00001
|
NM_000059.4(BRCA2):c.8527A>G (p.Asn2843Asp)
|
rs876660403
|
0.00001
|
NM_000088.4(COL1A1):c.862G>A (p.Glu288Lys)
|
rs72645341
|
0.00001
|
NM_000089.4(COL1A2):c.2958del (p.Val987fs)
|
rs1064793527
|
0.00001
|
NM_000089.4(COL1A2):c.298G>A (p.Gly100Ser)
|
rs1410254723
|
0.00001
|
NM_000089.4(COL1A2):c.3554G>A (p.Gly1185Glu)
|
rs766941490
|
0.00001
|
NM_000090.4(COL3A1):c.101A>G (p.His34Arg)
|
rs752110396
|
0.00001
|
NM_000090.4(COL3A1):c.203A>G (p.Asp68Gly)
|
rs376603102
|
0.00001
|
NM_000090.4(COL3A1):c.4295G>T (p.Arg1432Leu)
|
rs772428340
|
0.00001
|
NM_000090.4(COL3A1):c.4357G>A (p.Asp1453Asn)
|
rs1131691353
|
0.00001
|
NM_000093.5(COL5A1):c.1074C>T (p.Gly358=)
|
rs561440698
|
0.00001
|
NM_000093.5(COL5A1):c.4943A>G (p.Asp1648Gly)
|
rs746071518
|
0.00001
|
NM_000094.4(COL7A1):c.7078G>A (p.Gly2360Arg)
|
rs916512411
|
0.00001
|
NM_000128.4(F11):c.1178C>T (p.Ala393Val)
|
rs547842083
|
0.00001
|
NM_000142.5(FGFR3):c.1331C>T (p.Ser444Phe)
|
rs761325047
|
0.00001
|
NM_000152.5(GAA):c.670C>T (p.Arg224Trp)
|
rs757700700
|
0.00001
|
NM_000153.4(GALC):c.1400C>A (p.Thr467Asn)
|
rs750431739
|
0.00001
|
NM_000179.3(MSH6):c.1097A>G (p.Tyr366Cys)
|
rs1482767334
|
0.00001
|
NM_000179.3(MSH6):c.905G>A (p.Arg302Lys)
|
rs587781510
|
0.00001
|
NM_000203.5(IDUA):c.1728-1G>C
|
rs1249951282
|
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_000256.3(MYBPC3):c.3190+1G>A
|
rs111683277
|
0.00001
|
NM_000257.4(MYH7):c.1816G>A (p.Val606Met)
|
rs121913627
|
0.00001
|
NM_000257.4(MYH7):c.4489A>T (p.Thr1497Ser)
|
rs928227757
|
0.00001
|
NM_000260.4(MYO7A):c.4978G>A (p.Gly1660Arg)
|
rs771889662
|
0.00001
|
NM_000283.4(PDE6B):c.2140A>T (p.Met714Leu)
|
rs751413984
|
0.00001
|
NM_000321.3(RB1):c.1268G>A (p.Gly423Glu)
|
rs748635133
|
0.00001
|
NM_000334.4(SCN4A):c.3877G>A (p.Val1293Ile)
|
rs121908551
|
0.00001
|
NM_000335.5(SCN5A):c.79C>T (p.Arg27Cys)
|
rs746360906
|
0.00001
|
NM_000371.4(TTR):c.238A>G (p.Thr80Ala)
|
rs121918070
|
0.00001
|
NM_000391.4(TPP1):c.902A>C (p.Gln301Pro)
|
rs1191799507
|
0.00001
|
NM_000393.5(COL5A2):c.2563G>A (p.Gly855Arg)
|
rs1064795616
|
0.00001
|
NM_000393.5(COL5A2):c.316A>G (p.Asn106Asp)
|
rs1449512324
|
0.00001
|
NM_000428.3(LTBP2):c.578C>T (p.Pro193Leu)
|
rs1221770546
|
0.00001
|
NM_000465.4(BARD1):c.1990A>G (p.Arg664Gly)
|
rs1064795138
|
0.00001
|
NM_000465.4(BARD1):c.614A>G (p.Lys205Arg)
|
rs587782437
|
0.00001
|
NM_000492.4(CFTR):c.1477C>T (p.Gln493Ter)
|
rs77101217
|
0.00001
|
NM_000494.4(COL17A1):c.332-1G>A
|
rs754289857
|
0.00001
|
NM_000535.7(PMS2):c.1715C>T (p.Ala572Val)
|
rs770625733
|
0.00001
|
NM_000535.7(PMS2):c.608C>G (p.Thr203Ser)
|
rs779946576
|
0.00001
|
NM_000540.3(RYR1):c.3145G>A (p.Gly1049Ser)
|
rs990842315
|
0.00001
|
NM_000540.3(RYR1):c.3200G>A (p.Arg1067His)
|
rs377381782
|
0.00001
|
NM_000540.3(RYR1):c.3719G>T (p.Gly1240Val)
|
rs1374486975
|
0.00001
|
NM_000546.6(TP53):c.685T>C (p.Cys229Arg)
|
rs1064794312
|
0.00001
|
NM_000548.5(TSC2):c.3391A>G (p.Met1131Val)
|
rs775639244
|
0.00001
|
NM_000719.7(CACNA1C):c.247C>T (p.Arg83Trp)
|
rs886039214
|
0.00001
|
NM_000748.3(CHRNB2):c.277A>T (p.Thr93Ser)
|
rs752355994
|
0.00001
|
NM_000827.4(GRIA1):c.1988C>T (p.Thr663Met)
|
rs752447548
|
0.00001
|
NM_001003787.4(STRADA):c.1154G>A (p.Arg385His)
|
rs751571199
|
0.00001
|
NM_001005498.4(RHBDF2):c.722G>A (p.Arg241His)
|
rs149960669
|
0.00001
|
NM_001017989.3(OPA3):c.481G>A (p.Ala161Thr)
|
rs1445523438
|
0.00001
|
NM_001033566.3(RHOT1):c.1862+29G>A
|
rs995710160
|
0.00001
|
NM_001039591.3(USP9X):c.5671G>C (p.Asp1891His)
|
rs1203955457
|
0.00001
|
NM_001042492.3(NF1):c.3827G>A (p.Arg1276Gln)
|
rs137854556
|
0.00001
|
NM_001042545.2(LTBP4):c.4184G>A (p.Arg1395Gln)
|
rs1032506558
|
0.00001
|
NM_001042545.2(LTBP4):c.827C>T (p.Pro276Leu)
|
rs760578075
|
0.00001
|
NM_001083614.2(EARS2):c.334G>C (p.Ala112Pro)
|
rs749048646
|
0.00001
|
NM_001084.5(PLOD3):c.560A>G (p.Asp187Gly)
|
rs929219335
|
0.00001
|
NM_001098.3(ACO2):c.172C>T (p.Arg58Ter)
|
rs751460831
|
0.00001
|
NM_001098.3(ACO2):c.183G>A (p.Arg61=)
|
rs773989143
|
0.00001
|
NM_001098.3(ACO2):c.590A>G (p.Asn197Ser)
|
rs1034483010
|
0.00001
|
NM_001110556.2(FLNA):c.1200G>T (p.Lys400Asn)
|
rs781879374
|
0.00001
|
NM_001130823.3(DNMT1):c.2791G>A (p.Glu931Lys)
|
rs767511749
|
0.00001
|
NM_001130987.2(DYSF):c.1225C>T (p.Arg409Ter)
|
rs758180890
|
0.00001
|
NM_001148.6(ANK2):c.10080G>C (p.Gln3360His)
|
rs1214575789
|
0.00001
|
NM_001148.6(ANK2):c.109C>T (p.Arg37Cys)
|
rs369877280
|
0.00001
|
NM_001159699.2(FHL1):c.812G>C (p.Cys271Ser)
|
rs869025431
|
0.00001
|
NM_001164508.2(NEB):c.5087T>C (p.Ile1696Thr)
|
rs937014596
|
0.00001
|
NM_001242896.3(DEPDC5):c.1958dup (p.His653fs)
|
rs1475605360
|
0.00001
|
NM_001267550.2(TTN):c.105805del (p.Thr35269fs)
|
rs752787097
|
0.00001
|
NM_001267550.2(TTN):c.23879G>A (p.Ser7960Asn)
|
rs369302142
|
0.00001
|
NM_001267550.2(TTN):c.44816-1G>A
|
rs749705939
|
0.00001
|
NM_001267550.2(TTN):c.4700T>C (p.Ile1567Thr)
|
rs145957227
|
0.00001
|
NM_001267550.2(TTN):c.55432+5G>C
|
rs754717390
|
0.00001
|
NM_001267550.2(TTN):c.82328G>A (p.Arg27443His)
|
rs551496477
|
0.00001
|
NM_001267550.2(TTN):c.97050dup (p.Glu32351fs)
|
rs794729365
|
0.00001
|
NM_001278064.2(GRM1):c.1602G>A (p.Lys534=)
|
rs775323670
|
0.00001
|
NM_001292063.2(OTOG):c.6997G>A (p.Val2333Met)
|
rs188832359
|
0.00001
|
NM_001329943.3(KIAA0586):c.2932_2944+4del
|
rs1278372009
|
0.00001
|
NM_001349253.2(SCN11A):c.4770C>G (p.Ile1590Met)
|
rs768568691
|
0.00001
|
NM_001354604.2(MITF):c.622G>A (p.Glu208Lys)
|
rs768503905
|
0.00001
|
NM_001365536.1(SCN9A):c.3448G>A (p.Glu1150Lys)
|
rs367794835
|
0.00001
|
NM_001367534.1(CAMK2G):c.286G>A (p.Gly96Arg)
|
rs772531683
|
0.00001
|
NM_001367624.2(ZNF469):c.1268C>T (p.Pro423Leu)
|
rs1214168989
|
0.00001
|
NM_001371272.1(RAB11FIP5):c.3869G>A (p.Arg1290Gln)
|
rs868507082
|
0.00001
|
NM_001371986.1(UNC80):c.2527C>T (p.Arg843Ter)
|
rs74517001
|
0.00001
|
NM_001378120.1(MBD5):c.4066A>G (p.Met1356Val)
|
rs1057518375
|
0.00001
|
NM_001386795.1(DTNA):c.140A>G (p.Lys47Arg)
|
rs1298586276
|
0.00001
|
NM_001458.5(FLNC):c.2746C>T (p.Arg916Trp)
|
rs762095761
|
0.00001
|
NM_001478.5(B4GALNT1):c.1162_1164dup (p.Glu388dup)
|
rs1333871469
|
0.00001
|
NM_001613.4(ACTA2):c.107T>C (p.Ile36Thr)
|
rs772919504
|
0.00001
|
NM_001822.7(CHN1):c.1322T>C (p.Ile441Thr)
|
rs552090021
|
0.00001
|
NM_001844.5(COL2A1):c.3397C>T (p.Arg1133Cys)
|
rs1938732355
|
0.00001
|
NM_001848.3(COL6A1):c.911A>G (p.Lys304Arg)
|
rs1064794736
|
0.00001
|
NM_001854.4(COL11A1):c.2513G>A (p.Gly838Glu)
|
rs372419698
|
0.00001
|
NM_002241.5(KCNJ10):c.500C>T (p.Ala167Val)
|
rs137853070
|
0.00001
|
NM_002336.3(LRP6):c.1750C>T (p.His584Tyr)
|
rs756283420
|
0.00001
|
NM_002437.5(MPV17):c.122G>A (p.Arg41Gln)
|
rs140992482
|
0.00001
|
NM_002439.5(MSH3):c.2185C>G (p.His729Asp)
|
rs145353158
|
0.00001
|
NM_002471.4(MYH6):c.353C>T (p.Ser118Leu)
|
rs1322526035
|
0.00001
|
NM_002471.4(MYH6):c.3860G>A (p.Gly1287Glu)
|
rs780857713
|
0.00001
|
NM_002473.6(MYH9):c.2290C>T (p.Arg764Cys)
|
rs1383986403
|
0.00001
|
NM_002474.3(MYH11):c.2297G>A (p.Ser766Asn)
|
rs1050298581
|
0.00001
|
NM_002474.3(MYH11):c.2600G>A (p.Arg867Gln)
|
rs773993037
|
0.00001
|
NM_002526.4(NT5E):c.1387C>T (p.Arg463Ter)
|
rs755218216
|
0.00001
|
NM_002526.4(NT5E):c.223G>T (p.Glu75Ter)
|
rs138139831
|
0.00001
|
NM_002691.4(POLD1):c.2066G>A (p.Arg689Gln)
|
rs146530638
|
0.00001
|
NM_002691.4(POLD1):c.2911G>A (p.Glu971Lys)
|
rs897259743
|
0.00001
|
NM_002693.3(POLG):c.3285C>G (p.Ser1095Arg)
|
rs761649878
|
0.00001
|
NM_002860.4(ALDH18A1):c.1942C>T (p.Pro648Ser)
|
rs768964431
|
0.00001
|
NM_002878.4(RAD51D):c.419G>A (p.Gly140Glu)
|
rs730881945
|
0.00001
|
NM_003002.4(SDHD):c.242C>T (p.Pro81Leu)
|
rs80338844
|
0.00001
|
NM_003072.5(SMARCA4):c.4533+6C>A
|
rs1311909722
|
0.00001
|
NM_003235.5(TG):c.5686+1G>T
|
rs374620255
|
0.00001
|
NM_003242.6(TGFBR2):c.412T>G (p.Cys138Gly)
|
rs863223838
|
0.00001
|
NM_003477.3(PDHX):c.479G>A (p.Arg160His)
|
rs747386411
|
0.00001
|
NM_003482.4(KMT2D):c.15323G>A (p.Arg5108His)
|
rs1214099522
|
0.00001
|
NM_003705.5(SLC25A12):c.125G>A (p.Arg42His)
|
rs143779282
|
0.00001
|
NM_003737.4(DCHS1):c.4378G>C (p.Ala1460Pro)
|
rs1262227131
|
0.00001
|
NM_003738.5(PTCH2):c.1093G>T (p.Glu365Ter)
|
rs1344552083
|
0.00001
|
NM_003738.5(PTCH2):c.453G>T (p.Gly151=)
|
rs757012124
|
0.00001
|
NM_004168.4(SDHA):c.685G>A (p.Gly229Arg)
|
rs41495051
|
0.00001
|
NM_004187.5(KDM5C):c.4286C>T (p.Pro1429Leu)
|
rs1556832824
|
0.00001
|
NM_004360.5(CDH1):c.370C>T (p.Arg124Cys)
|
rs748086082
|
0.00001
|
NM_004370.6(COL12A1):c.3508G>A (p.Val1170Ile)
|
rs201542066
|
0.00001
|
NM_004493.3(HSD17B10):c.286G>A (p.Val96Met)
|
rs965610533
|
0.00001
|
NM_004655.4(AXIN2):c.1201-2A>G
|
rs775783026
|
0.00001
|
NM_004667.6(HERC2):c.7617+4A>C
|
rs1567006110
|
0.00001
|
NM_004870.4(MPDU1):c.19G>T (p.Gly7Ter)
|
rs555710402
|
0.00001
|
NM_004990.4(MARS1):c.1108T>C (p.Phe370Leu)
|
rs140467171
|
0.00001
|
NM_004998.4(MYO1E):c.1415C>T (p.Ala472Val)
|
rs371914169
|
0.00001
|
NM_005188.4(CBL):c.1096-1G>T
|
rs397517076
|
0.00001
|
NM_005876.5(SPEG):c.2134G>A (p.Val712Met)
|
rs375953839
|
0.00001
|
NM_005902.4(SMAD3):c.220C>T (p.Arg74Trp)
|
rs1343295267
|
0.00001
|
NM_006245.4(PPP2R5D):c.1762C>T (p.His588Tyr)
|
rs1363040405
|
0.00001
|
NM_006493.4(CLN5):c.-113G>T
|
rs1465531119
|
0.00001
|
NM_006516.4(SLC2A1):c.1060G>A (p.Ala354Thr)
|
rs780529723
|
0.00001
|
NM_006946.4(SPTBN2):c.6109C>T (p.Arg2037Cys)
|
rs200529832
|
0.00001
|
NM_007103.4(NDUFV1):c.491A>G (p.Asn164Ser)
|
rs1024767789
|
0.00001
|
NM_007118.4(TRIO):c.8119C>T (p.Arg2707Ter)
|
rs747166529
|
0.00001
|
NM_007194.4(CHEK2):c.565A>G (p.Ile189Val)
|
rs587780185
|
0.00001
|
NM_007208.4(MRPL3):c.884G>C (p.Cys295Ser)
|
rs758835610
|
0.00001
|
NM_007289.4(MME):c.1511A>T (p.Glu504Val)
|
rs201239248
|
0.00001
|
NM_007289.4(MME):c.1735G>A (p.Gly579Ser)
|
rs767928746
|
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_007294.4(BRCA1):c.255G>T (p.Glu85Asp)
|
rs756499058
|
0.00001
|
NM_012203.2(GRHPR):c.295C>T (p.Arg99Ter)
|
rs119490108
|
0.00001
|
NM_012309.5(SHANK2):c.1327C>A (p.Arg443Ser)
|
rs1160968406
|
0.00001
|
NM_013382.7(POMT2):c.845G>A (p.Arg282His)
|
rs756132642
|
0.00001
|
NM_014043.4(CHMP2B):c.94C>T (p.Arg32Ter)
|
rs763615051
|
0.00001
|
NM_014244.5(ADAMTS2):c.2226T>A (p.Phe742Leu)
|
rs768906337
|
0.00001
|
NM_014244.5(ADAMTS2):c.2696C>T (p.Ser899Leu)
|
rs751948505
|
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_014874.4(MFN2):c.1292C>T (p.Ser431Leu)
|
rs764374251
|
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_016138.5(COQ7):c.3G>T (p.Met1Ile)
|
rs746489573
|
0.00001
|
NM_016219.5(MAN1B1):c.484C>T (p.Gln162Ter)
|
rs1207589187
|
0.00001
|
NM_016239.4(MYO15A):c.9765_9766insGG (p.Ile3256fs)
|
rs757070287
|
0.00001
|
NM_017617.5(NOTCH1):c.3631C>T (p.Arg1211Trp)
|
rs766644919
|
0.00001
|
NM_017617.5(NOTCH1):c.389C>T (p.Pro130Leu)
|
rs750539322
|
0.00001
|
NM_017739.4(POMGNT1):c.1975C>T (p.Gln659Ter)
|
rs766290773
|
0.00001
|
NM_017739.4(POMGNT1):c.908C>T (p.Pro303Leu)
|
rs753453050
|
0.00001
|
NM_017827.4(SARS2):c.30G>A (p.Trp10Ter)
|
rs145754412
|
0.00001
|
NM_018105.3(THAP1):c.266A>G (p.Lys89Arg)
|
rs267607111
|
0.00001
|
NM_018122.5(DARS2):c.259G>A (p.Asp87Asn)
|
rs1209550754
|
0.00001
|
NM_018255.4(ELP2):c.617A>G (p.His206Arg)
|
rs773432002
|
0.00001
|
NM_018398.3(CACNA2D3):c.3071C>T (p.Pro1024Leu)
|
rs1447772102
|
0.00001
|
NM_018706.7(DHTKD1):c.2747A>G (p.Lys916Arg)
|
rs1016086446
|
0.00001
|
NM_019023.5(PRMT7):c.820C>T (p.Arg274Ter)
|
rs372375423
|
0.00001
|
NM_020843.4(SCAPER):c.2377C>T (p.Gln793Ter)
|
rs1239725461
|
0.00001
|
NM_020921.4(NIN):c.4343A>T (p.Gln1448Leu)
|
rs1440591707
|
0.00001
|
NM_020944.3(GBA2):c.1030G>C (p.Ala344Pro)
|
rs750984776
|
0.00001
|
NM_020975.6(RET):c.1826G>A (p.Cys609Tyr)
|
rs77939446
|
0.00001
|
NM_021126.8(MPST):c.314A>G (p.Tyr105Cys)
|
rs747813616
|
0.00001
|
NM_021625.5(TRPV4):c.1634T>A (p.Ile545Asn)
|
rs757630049
|
0.00001
|
NM_022168.4(IFIH1):c.104T>A (p.Leu35Gln)
|
rs1235525082
|
0.00001
|
NM_022369.4(STRA6):c.1964G>A (p.Arg655His)
|
rs397514639
|
0.00001
|
NM_022915.5(MRPL44):c.584T>C (p.Phe195Ser)
|
rs1553539922
|
0.00001
|
NM_024301.5(FKRP):c.919T>A (p.Tyr307Asn)
|
rs104894692
|
0.00001
|
NM_024537.4(CARS2):c.1324G>C (p.Glu442Gln)
|
rs761022161
|
0.00001
|
NM_024649.5(BBS1):c.416G>A (p.Trp139Ter)
|
rs878855095
|
0.00001
|
NM_024721.5(ZFHX4):c.7316C>G (p.Pro2439Arg)
|
rs1354750315
|
0.00001
|
NM_030665.4(RAI1):c.3478C>T (p.Arg1160Trp)
|
rs761044841
|
0.00001
|
NM_031407.7(HUWE1):c.10775C>G (p.Ser3592Cys)
|
rs782744389
|
0.00001
|
NM_031407.7(HUWE1):c.6052G>A (p.Gly2018Ser)
|
rs1556957279
|
0.00001
|
NM_032043.3(BRIP1):c.1315C>T (p.Arg439Ter)
|
rs587780226
|
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_032380.5(GFM2):c.1229T>A (p.Ile410Lys)
|
rs863224037
|
0.00001
|
NM_052867.4(NALCN):c.2887C>G (p.Leu963Val)
|
rs890818947
|
0.00001
|
NM_080424.4(SP110):c.342C>A (p.Ser114Arg)
|
rs1559178549
|
0.00001
|
NM_080680.3(COL11A2):c.4495G>A (p.Glu1499Lys)
|
rs727504543
|
0.00001
|
NM_080680.3(COL11A2):c.798+67C>T
|
rs772701006
|
0.00001
|
NM_133259.4(LRPPRC):c.1582+7A>G
|
rs863225446
|
0.00001
|
NM_133261.3(GIPC3):c.192G>A (p.Lys64=)
|
rs876657466
|
0.00001
|
NM_138694.4(PKHD1):c.10219C>T (p.Gln3407Ter)
|
rs781368899
|
0.00001
|
NM_144991.3(TSPEAR):c.1675T>C (p.Tyr559His)
|
rs781818534
|
0.00001
|
NM_152641.4(ARID2):c.5359C>T (p.Arg1787Cys)
|
rs1457405698
|
0.00001
|
NM_152722.5(HEPACAM):c.616C>T (p.Arg206Cys)
|
rs551755804
|
0.00001
|
NM_153026.3(PRICKLE1):c.1393A>G (p.Lys465Glu)
|
rs780931107
|
0.00001
|
NM_153252.5(BRWD3):c.2878G>A (p.Val960Ile)
|
rs1477713953
|
0.00001
|
NM_170707.4(LMNA):c.1045C>T (p.Arg349Trp)
|
rs267607555
|
0.00001
|
NM_173728.4(ARHGEF15):c.868G>A (p.Ala290Thr)
|
rs199835687
|
0.00001
|
NM_177438.3(DICER1):c.533A>T (p.His178Leu)
|
rs201239474
|
0.00001
|
NM_177963.4(SYT12):c.791C>T (p.Pro264Leu)
|
rs201856506
|
0.00001
|
NM_181523.3(PIK3R1):c.536T>C (p.Val179Ala)
|
rs771949848
|
0.00001
|
NM_201384.3(PLEC):c.5981T>C (p.Leu1994Pro)
|
rs886044775
|
0.00001
|
NM_201384.3(PLEC):c.9742G>A (p.Gly3248Ser)
|
rs782522164
|
0.00001
|
NM_201596.3(CACNB2):c.120+360G>C
|
rs1064795457
|
0.00001
|
GRCh37/hg19 10p15.3-15.1(chr10:100027-5071398)x1
|
|
|
GRCh37/hg19 10p15.3-q11.22(chr10:135655-47688677)x4
|
|
|
GRCh37/hg19 10q11.22-11.23(chr10:46321318-51595050)x1
|
|
|
GRCh37/hg19 10q11.23(chr10:52834351-52834661)x3
|
|
|
GRCh37/hg19 10q11.23-21.1(chr10:52833082-52913349)x3
|
|
|
GRCh37/hg19 10q21.3(chr10:68295495-68526163)x1
|
|
|
GRCh37/hg19 10q22.1(chr10:73405588-73406374)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 11q14.1(chr11:78189174-78189989)x1
|
|
|
GRCh37/hg19 12q21.31(chr12:80696112-80696398)x1
|
|
|
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 13q34(chr13:115054475-115107733)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 15q11.2(chr15:22770421-23282799)x1
|
|
|
GRCh37/hg19 15q13.1(chr15:28262885-28265761)x1
|
|
|
GRCh37/hg19 15q13.1-13.2(chr15:28958779-30386553)x1
|
|
|
GRCh37/hg19 15q13.2-13.3(chr15:31108661-32446830)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 15q15.3(chr15:43892948-43895542)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(chr16:29567295-30320307)x1
|
|
|
GRCh37/hg19 16p11.2(chr16:29591078-30177240)x3
|
|
|
GRCh37/hg19 16p11.2(chr16:29651706-30193525)x1
|
|
|
GRCh37/hg19 16p11.2(chr16:29670770-30207956)x3
|
|
|
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(chr16:15154115-16276115)
|
|
|
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 16p13.12-13.11(chr16:14643928-14725823)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(chr16:89874496-89888566)x1
|
|
|
GRCh37/hg19 16q24.3(chr16:90089006-90274440)x3
|
|
|
GRCh37/hg19 17p11.2(chr17:19515340-19536015)x1
|
|
|
GRCh37/hg19 17p12-11.2(chr17:12524223-16047567)x1
|
|
|
GRCh37/hg19 17p13.2(chr17:3543270-4045261)x3
|
|
|
GRCh37/hg19 17p13.2(chr17:3995902-4511207)x3
|
|
|
GRCh37/hg19 17p13.3(chr17:1041555-1576875)x3
|
|
|
GRCh37/hg19 17q21.31(chr17:41230488-41235856)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 1p36.22(chr1:12058633-12059409)x1
|
|
|
GRCh37/hg19 1q21.1(chr1:145291030-145735385)x3
|
|
|
GRCh37/hg19 1q21.1(chr1:145415156-145799615)x1
|
|
|
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 1q21.1-21.2(chr1:146542843-147857135)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(chr22:20030782-20052415)x0
|
|
|
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 2p16.3(chr2:50646240-50775949)x1
|
|
|
GRCh37/hg19 2p23.3(chr2:24235780-25700427)x1
|
|
|
GRCh37/hg19 2p23.3(chr2:25464105-25581265)
|
|
|
GRCh37/hg19 2p25.2-25.1(chr2:4500550-7378329)x1
|
|
|
GRCh37/hg19 2q13(chr2:111409518-113127751)x3
|
|
|
GRCh37/hg19 2q13(chr2:112658687-112833108)x1
|
|
|
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 3p21.2(chr3:51112757-51113090)x0
|
|
|
GRCh37/hg19 3p22.1(chr3:39423783-39438788)x3
|
|
|
GRCh37/hg19 3p25.1(chr3:14188805-14189498)x1
|
|
|
GRCh37/hg19 3p25.3-25.2(chr3:10970972-12295919)x1
|
|
|
GRCh37/hg19 3p26.3(chr3:1125700-1301859)x3
|
|
|
GRCh37/hg19 3p26.3(chr3:282750-2091065)x1
|
|
|
GRCh37/hg19 3q28(chr3:190114218-190144769)x1
|
|
|
GRCh37/hg19 3q29(chr3:194161542-194998084)x3
|
|
|
GRCh37/hg19 3q29(chr3:196381502-196771786)x3
|
|
|
GRCh37/hg19 4q22.1(chr4:90647779-90756863)x3
|
|
|
GRCh37/hg19 4q22.1(chr4:92188768-92235446)x3
|
|
|
GRCh37/hg19 4q28.1(chr4:123977243-123978715)x1
|
|
|
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 6p21.1(chr6:44274357-44278496)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(chr7:73475600-73478833)x1
|
|
|
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 8q22.2(chr8:100133404-100133674)x1
|
|
|
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:31747743-31838118)x0
|
|
|
GRCh37/hg19 Xp21.1(chrX:32173956-32431534)x0
|
|
|
GRCh37/hg19 Xp21.1(chrX:32232129-32536506)x1
|
|
|
GRCh37/hg19 Xp21.1(chrX:33183494-33640512)x2
|
|
|
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 Xp22.31(chrX:6455149-8143242)x1
|
|
|
GRCh37/hg19 Xp22.32-22.31(chrX:5966333-6121580)x3
|
|
|
GRCh37/hg19 Xp22.33(chrX:2746025-2799731)x1
|
|
|
GRCh37/hg19 Xq13.1(chrX:71401787-71617388)x2
|
|
|
GRCh37/hg19 Xq21.1(chrX:77032238-77144366)x3
|
|
|
GRCh37/hg19 Xq26.3(chrX:136647475-136892054)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:154124170-154528181)x1
|
|
|
GRCh37/hg19 Xq28(chrX:154124170-154528181)x3
|
|
|
GRCh37/hg19 Xq28(chrX:154489808-154490709)x0
|
|
|
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_000016.10:g.173384_177187del
|
|
|
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-ATP6):m.8975T>C
|
rs1981459
|
|
NC_012920.1(MT-ATP6):m.9155A>G
|
|
|
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.15485C>T
|
|
|
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.3243A>T
|
rs199474657
|
|
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-ND5):m.13763C>T
|
rs1603224344
|
|
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.11778G>A
|
rs199476112
|
|
NC_012920.1:m.12170G>A
|
rs1556424072
|
|
NC_012920.1:m.14484T>C
|
rs199476104
|
|
NC_012920.1:m.14663G>A
|
rs1556424474
|
|
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.15928G>T
|
rs527236198
|
|
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.7041G>A
|
rs1556423220
|
|
NC_012920.1:m.8568C>T
|
rs1603221589
|
|
NC_012920.1:m.8651T>C
|
rs1556423512
|
|
NC_012920.1:m.8686T>C
|
rs1569484231
|
|
NC_012920.1:m.9041A>G
|
rs879244322
|
|
NC_012920.1:m.9152T>C
|
rs878853096
|
|
NC_012920.1:m.9157G>A
|
rs1556423625
|
|
NC_012920.1:m.9813T>A
|
rs1556423727
|
|
NM_000038.6(APC):c.1210del (p.Ile404fs)
|
rs1064794225
|
|
NM_000038.6(APC):c.1804A>T (p.Asn602Tyr)
|
rs2149841715
|
|
NM_000038.6(APC):c.2413C>T (p.Arg805Ter)
|
rs587779783
|
|
NM_000038.6(APC):c.2624dup (p.Arg876fs)
|
rs863225330
|
|
NM_000038.6(APC):c.2845A>G (p.Met949Val)
|
rs587781348
|
|
NM_000038.6(APC):c.298del (p.Glu100fs)
|
rs1064794224
|
|
NM_000038.6(APC):c.4348C>T (p.Arg1450Ter)
|
rs121913332
|
|
NM_000038.6(APC):c.994C>T (p.Arg332Ter)
|
rs775126020
|
|
NM_000044.6(AR):c.2314A>C (p.Asn772His)
|
rs886041352
|
|
NM_000051.4(ATM):c.1564_1565del (p.Glu522fs)
|
rs587779817
|
|
NM_000051.4(ATM):c.3245_3247delinsTGAT (p.His1082fs)
|
rs587776549
|
|
NM_000051.4(ATM):c.8552C>T (p.Ala2851Val)
|
rs876659701
|
|
NM_000053.4(ATP7B):c.4092_4093del (p.Ser1365fs)
|
rs771603301
|
|
NM_000053.4(ATP7B):c.778dup (p.Gln260fs)
|
rs786204570
|
|
NM_000059.3(BRCA2):c.2808_2811del (p.Ala938Profs)
|
rs80359351
|
|
NM_000059.4(BRCA2):c.1813dup (p.Ile605fs)
|
rs80359306
|
|
NM_000059.4(BRCA2):c.1929del (p.Arg645fs)
|
rs80359316
|
|
NM_000059.4(BRCA2):c.2836del (p.Asp946fs)
|
rs80359358
|
|
NM_000059.4(BRCA2):c.3515C>G (p.Ser1172Trp)
|
rs80358600
|
|
NM_000059.4(BRCA2):c.469_470del (p.Lys157fs)
|
rs397507739
|
|
NM_000059.4(BRCA2):c.4876_4877del (p.Asn1626fs)
|
rs80359470
|
|
NM_000059.4(BRCA2):c.5073dup (p.Trp1692fs)
|
rs80359479
|
|
NM_000059.4(BRCA2):c.5576_5579del (p.Ile1859fs)
|
rs80359520
|
|
NM_000059.4(BRCA2):c.7040C>A (p.Pro2347Gln)
|
rs80358929
|
|
NM_000059.4(BRCA2):c.7958T>C (p.Leu2653Pro)
|
rs80359022
|
|
NM_000059.4(BRCA2):c.7976G>A (p.Arg2659Lys)
|
rs80359027
|
|
NM_000059.4(BRCA2):c.8614G>A (p.Glu2872Lys)
|
rs1555287788
|
|
NM_000059.4(BRCA2):c.8817_8820del (p.Lys2939fs)
|
rs397508010
|
|
NM_000059.4(BRCA2):c.9011A>G (p.Lys3004Arg)
|
rs587782779
|
|
NM_000070.3(CAPN3):c.1012G>C (p.Val338Leu)
|
rs771608215
|
|
NM_000070.3(CAPN3):c.1722del (p.Ser575fs)
|
rs1366387924
|
|
NM_000077.5(CDKN2A):c.322G>A (p.Asp108Asn)
|
rs121913381
|
|
NM_000081.4(LYST):c.11268-5del
|
rs36014994
|
|
NM_000088.4(COL1A1):c.2845C>T (p.Pro949Ser)
|
rs1434279534
|
|
NM_000088.4(COL1A1):c.385C>T (p.Pro129Ser)
|
rs761672800
|
|
NM_000089.4(COL1A2):c.739G>T (p.Gly247Cys)
|
rs1064794058
|
|
NM_000090.4(COL3A1):c.1471C>T (p.Arg491Ter)
|
rs1057518075
|
|
NM_000090.4(COL3A1):c.3490G>A (p.Gly1164Arg)
|
rs587779553
|
|
NM_000090.4(COL3A1):c.951+1G>A
|
rs587779652
|
|
NM_000090.4(COL3A1):c.997G>C (p.Gly333Arg)
|
rs1688217136
|
|
NM_000092.5(COL4A4):c.3398-5C>G
|
rs1334751349
|
|
NM_000093.5(COL5A1):c.695C>T (p.Ala232Val)
|
rs1834699128
|
|
NM_000094.4(COL7A1):c.2644T>C (p.Ser882Pro)
|
rs2045438463
|
|
NM_000098.3(CPT2):c.863del (p.Leu288fs)
|
rs1645416571
|
|
NM_000102.4(CYP17A1):c.715C>T (p.Arg239Ter)
|
rs104894136
|
|
NM_000138.5(FBN1):c.1571del (p.Thr524fs)
|
rs886038817
|
|
NM_000138.5(FBN1):c.2860C>T (p.Arg954Cys)
|
rs1555398835
|
|
NM_000138.5(FBN1):c.3297A>T (p.Glu1099Asp)
|
rs1555398626
|
|
NM_000138.5(FBN1):c.374A>G (p.Asn125Ser)
|
rs2044551186
|
|
NM_000138.5(FBN1):c.4708T>C (p.Trp1570Arg)
|
rs1597548657
|
|
NM_000138.5(FBN1):c.6487G>T (p.Glu2163Ter)
|
rs1555395191
|
|
NM_000138.5(FBN1):c.6787A>C (p.Met2263Leu)
|
rs2043017749
|
|
NM_000138.5(FBN1):c.762del (p.Leu256fs)
|
rs1064793559
|
|
NM_000143.4(FH):c.839G>A (p.Gly280Asp)
|
rs863223969
|
|
NM_000145.4(FSHR):c.1501G>A (p.Ala501Thr)
|
rs1674317526
|
|
NM_000158.4(GBE1):c.415G>T (p.Gly139Ter)
|
rs1553690406
|
|
NM_000162.5(GCK):c.1085C>T (p.Thr362Ile)
|
rs2096271812
|
|
NM_000169.3(GLA):c.11G>T (p.Arg4Met)
|
rs1569306260
|
|
NM_000169.3(GLA):c.620A>C (p.Tyr207Ser)
|
rs797044727
|
|
NM_000176.3(NR3C1):c.2136G>A (p.Trp712Ter)
|
rs2151475967
|
|
NM_000179.3(MSH6):c.1480G>T (p.Ala494Ser)
|
rs758699749
|
|
NM_000179.3(MSH6):c.2075A>G (p.Lys692Arg)
|
rs975991506
|
|
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.3261del (p.Phe1088fs)
|
rs267608078
|
|
NM_000179.3(MSH6):c.3725G>A (p.Arg1242His)
|
rs63750119
|
|
NM_000194.2(HPRT1):c.170T>C (p.Met57Thr)
|
rs137852495
|
|
NM_000194.3(HPRT1):c.609+5G>A
|
rs1569360139
|
|
NM_000202.8(IDS):c.1417C>T (p.Pro473Ser)
|
rs2123994315
|
|
NM_000209.4(PDX1):c.681C>A (p.Cys227Ter)
|
rs777164146
|
|
NM_000215.4(JAK3):c.1291C>T (p.Arg431Trp)
|
rs1274345651
|
|
NM_000217.3(KCNA1):c.1126G>C (p.Gly376Arg)
|
rs1555085786
|
|
NM_000218.3(KCNQ1):c.1685+2T>C
|
rs1590081467
|
|
NM_000219.6(KCNE1):c.227_229delinsTCTA (p.Asp76fs)
|
rs1555843898
|
|
NM_000238.4(KCNH2):c.1926C>G (p.Ile642Met)
|
rs1801154313
|
|
NM_000238.4(KCNH2):c.2464G>A (p.Val822Met)
|
rs121912506
|
|
NM_000238.4(KCNH2):c.3002G>A (p.Trp1001Ter)
|
rs794728401
|
|
NM_000243.3(MEFV):c.414A>G (p.Gly138=)
|
rs224224
|
|
NM_000249.4(MLH1):c.1823C>T (p.Ala608Val)
|
rs267607864
|
|
NM_000249.4(MLH1):c.466T>C (p.Phe156Leu)
|
rs1060500691
|
|
NM_000251.3(MSH2):c.128A>T (p.Tyr43Phe)
|
rs17217723
|
|
NM_000251.3(MSH2):c.1387-9T>A
|
rs587779087
|
|
NM_000251.3(MSH2):c.181C>T (p.Gln61Ter)
|
rs63750951
|
|
NM_000251.3(MSH2):c.2510C>G (p.Pro837Arg)
|
rs1573578602
|
|
NM_000251.3(MSH2):c.2515C>G (p.His839Asp)
|
rs876659466
|
|
NM_000251.3(MSH2):c.506_508delinsCAA (p.Ile169_Gln170delinsThrLys)
|
rs2104027960
|
|
NM_000251.3(MSH2):c.743A>G (p.Lys248Arg)
|
rs1064794704
|
|
NM_000256.3(MYBPC3):c.1577_1580dup (p.Cys528fs)
|
rs730880712
|
|
NM_000256.3(MYBPC3):c.3742_3759dup (p.Gly1248_Cys1253dup)
|
rs193922384
|
|
NM_000256.3(MYBPC3):c.654+1G>A
|
rs730880621
|
|
NM_000257.4(MYH7):c.1481T>A (p.Phe494Tyr)
|
rs1555338257
|
|
NM_000257.4(MYH7):c.209C>T (p.Thr70Ile)
|
rs1327007939
|
|
NM_000257.4(MYH7):c.4156C>T (p.Leu1386Phe)
|
rs727504703
|
|
NM_000257.4(MYH7):c.5283+2dup
|
rs1566522824
|
|
NM_000266.4(NDP):c.185T>C (p.Leu62Pro)
|
rs2147204870
|
|
NM_000278.5(PAX2):c.76dup (p.Val26fs)
|
rs75462234
|
|
NM_000285.4(PEPD):c.549-1G>A
|
rs1204749077
|
|
NM_000291.4(PGK1):c.730T>G (p.Phe244Val)
|
rs2078363321
|
|
NM_000297.4(PKD2):c.368G>A (p.Arg123Gln)
|
rs1578111487
|
|
NM_000304.4(PMP22):c.362A>G (p.His121Arg)
|
rs1567698985
|
|
NM_000314.8(PTEN):c.-687G>A
|
|
|
NM_000314.8(PTEN):c.1003C>T (p.Arg335Ter)
|
rs121909231
|
|
NM_000314.8(PTEN):c.178A>T (p.Lys60Ter)
|
rs1554897262
|
|
NM_000322.5(PRPH2):c.394del (p.Gln132fs)
|
rs769723975
|
|
NM_000335.5(SCN5A):c.1076C>A (p.Ala359Asp)
|
rs1553704925
|
|
NM_000335.5(SCN5A):c.3985G>A (p.Ala1329Thr)
|
rs199473224
|
|
NM_000350.3(ABCA4):c.6006-16G>A
|
rs4147863
|
|
NM_000350.3(ABCA4):c.6006-698del
|
rs4147902
|
|
NM_000368.5(TSC1):c.214C>G (p.Leu72Val)
|
rs759183842
|
|
NM_000382.3(ALDH3A2):c.1297_1298del (p.Glu433fs)
|
rs387906256
|
|
NM_000388.4(CASR):c.2467C>T (p.Pro823Ser)
|
rs1576878027
|
|
NM_000393.5(COL5A2):c.4020C>A (p.Asn1340Lys)
|
rs771310130
|
|
NM_000414.4(HSD17B4):c.1471G>A (p.Ala491Thr)
|
rs28943591
|
|
NM_000416.3(IFNGR1):c.85+10T>C
|
rs7749390
|
|
NM_000426.4(LAMA2):c.1657C>T (p.Arg553Ter)
|
rs1303773212
|
|
NM_000426.4(LAMA2):c.3068G>T (p.Cys1023Phe)
|
rs1773498113
|
|
NM_000426.4(LAMA2):c.370G>T (p.Val124Leu)
|
rs1278777348
|
|
NM_000428.3(LTBP2):c.1865-19A>G
|
|
|
NM_000430.4(PAFAH1B1):c.1190C>T (p.Thr397Ile)
|
rs1131691295
|
|
NM_000435.3(NOTCH3):c.1790G>A (p.Cys597Tyr)
|
rs2046888772
|
|
NM_000441.2(SLC26A4):c.2317G>A (p.Glu773Lys)
|
rs764791809
|
|
NM_000455.5(STK11):c.1225C>G (p.Arg409Gly)
|
rs368466538
|
|
NM_000455.5(STK11):c.1294C>T (p.Gln432Ter)
|
rs1057523149
|
|
NM_000478.6(ALPL):c.340G>A (p.Ala114Thr)
|
rs1320839573
|
|
NM_000478.6(ALPL):c.400_401delinsCA (p.Thr134His)
|
rs786204530
|
|
NM_000489.6(ATRX):c.5222G>A (p.Arg1741Lys)
|
rs1448764008
|
|
NM_000489.6(ATRX):c.6253C>T (p.Arg2085Cys)
|
rs2148019913
|
|
NM_000489.6(ATRX):c.736C>T (p.Arg246Cys)
|
rs122445105
|
|
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del)
|
rs113993960
|
|
NM_000492.3(CFTR):c.2175dup (p.Glu726Argfs)
|
rs746418935
|
|
NM_000492.4(CFTR):c.224G>A (p.Arg75Gln)
|
rs1800076
|
|
NM_000492.4(CFTR):c.3485G>T (p.Arg1162Leu)
|
rs1800120
|
|
NM_000492.4(CFTR):c.349C>T (p.Arg117Cys)
|
rs77834169
|
|
NM_000500.9(CYP21A2):c.293-13C>G
|
rs6467
|
|
NM_000503.6(EYA1):c.1475G>A (p.Arg492Gln)
|
rs2128850745
|
|
NM_000527.5(LDLR):c.1761C>G (p.Ser587Arg)
|
rs753430282
|
|
NM_000527.5(LDLR):c.2479G>A (p.Val827Ile)
|
rs137853964
|
|
NM_000530.8(MPZ):c.306del (p.Asp104fs)
|
rs281865125
|
|
NM_000530.8(MPZ):c.703AAG[1] (p.Lys236del)
|
rs755446743
|
|
NM_000532.5(PCCB):c.11_28dup (p.Ala4_Ala9dup)
|
rs777359703
|
|
NM_000535.7(PMS2):c.1012C>G (p.Pro338Ala)
|
rs876660508
|
|
NM_000535.7(PMS2):c.1831dup (p.Ile611fs)
|
rs63750250
|
|
NM_000535.7(PMS2):c.2117del (p.Lys706fs)
|
rs587782704
|
|
NM_000535.7(PMS2):c.251-10T>A
|
rs1554304817
|
|
NM_000535.7(PMS2):c.251-2A>C
|
rs587779340
|
|
NM_000535.7(PMS2):c.736_741delinsTGTGTGTGAAG (p.Pro246_Pro247delinsCysValTer)
|
rs267608150
|
|
NM_000539.3(RHO):c.946del (p.Cys316fs)
|
rs1064793749
|
|
NM_000540.3(RYR1):c.13513G>C (p.Asp4505His)
|
rs150396398
|
|
NM_000546.6(TP53):c.830G>A (p.Cys277Tyr)
|
rs763098116
|
|
NM_000546.6(TP53):c.97-11C>A
|
|
|
NM_000682.7(ADRA2B):c.274G>A (p.Asp92Asn)
|
rs1397681630
|
|
NM_000718.4(CACNA1B):c.1116C>G (p.Phe372Leu)
|
rs2133343171
|
|
NM_000719.7(CACNA1C):c.4087G>A (p.Val1363Met)
|
rs1555968941
|
|
NM_000777.5(CYP3A5):c.1165C>T (p.Pro389Ser)
|
rs765108001
|
|
NM_000811.3(GABRA6):c.1009del (p.Arg337fs)
|
rs765780675
|
|
NM_000814.6(GABRB3):c.928C>A (p.Leu310Ile)
|
rs1889964767
|
|
NM_000828.5(GRIA3):c.2408G>A (p.Gly803Glu)
|
rs1057521729
|
|
NM_000834.5(GRIN2B):c.2087G>A (p.Arg696His)
|
rs1555103971
|
|
NM_000834.5(GRIN2B):c.466G>A (p.Val156Ile)
|
rs1555133189
|
|
NM_000843.4(GRM6):c.2213_2219del (p.Ala738fs)
|
rs770025079
|
|
NM_000868.4(HTR2C):c.1170G>T (p.Glu390Asp)
|
rs2071382276
|
|
NM_000875.5(IGF1R):c.1199C>T (p.Ser400Phe)
|
rs2014371478
|
|
NM_000875.5(IGF1R):c.1862C>T (p.Ser621Leu)
|
rs1131691583
|
|
NM_000891.3(KCNJ2):c.431G>A (p.Gly144Asp)
|
rs199473377
|
|
NM_000987.5(RPL26):c.341del (p.Asp114fs)
|
rs2151671987
|
|
NM_001002295.2(GATA3):c.1058G>C (p.Arg353Thr)
|
rs1564405163
|
|
NM_001003694.2(BRPF1):c.286C>T (p.Gln96Ter)
|
rs1553693863
|
|
NM_001003800.2(BICD2):c.320C>T (p.Ser107Leu)
|
rs398123028
|
|
NM_001003800.2(BICD2):c.778G>T (p.Glu260Ter)
|
rs1445458188
|
|
NM_001004303.5(FYB2):c.1420G>T (p.Glu474Ter)
|
rs139281548
|
|
NM_001004334.4(GPR179):c.4172A>C (p.Asp1391Ala)
|
rs2144259445
|
|
NM_001005242.3(PKP2):c.2065_2070delinsG (p.His689fs)
|
rs397517021
|
|
NM_001005273.3(CHD3):c.2896C>T (p.Arg966Trp)
|
rs1064795892
|
|
NM_001005273.3(CHD3):c.3160G>A (p.Ala1054Thr)
|
rs370985532
|
|
NM_001005279.3(OR6K2):c.669_670insA (p.Ala224fs)
|
rs1553241101
|
|
NM_001009944.3(PKD1):c.13_25del (p.Ala5fs)
|
rs1555462463
|
|
NM_001009999.3(KDM1A):c.1072+3A>G
|
rs1553129313
|
|
NM_001010892.3(RSPH4A):c.1662+2_1662+5del
|
rs768986129
|
|
NM_001020658.2(PUM1):c.2405C>T (p.Ser802Phe)
|
rs1640045849
|
|
NM_001025.5(RPS23):c.200G>A (p.Arg67Lys)
|
rs1060505034
|
|
NM_001029896.2(WDR45):c.246G>A (p.Trp82Ter)
|
rs1602539456
|
|
NM_001029896.2(WDR45):c.827+1G>A
|
rs1557083958
|
|
NM_001030006.2(AP2B1):c.240G>T (p.Gln80His)
|
rs2073654935
|
|
NM_001031679.3(MSRB3):c.264-1G>A
|
rs201306709
|
|
NM_001031684.3(SRSF7):c.357T>A (p.Cys119Ter)
|
|
|
NM_001032221.6(STXBP1):c.125CCT[1] (p.Ser43del)
|
rs796053381
|
|
NM_001032221.6(STXBP1):c.1277T>C (p.Leu426Pro)
|
rs886039435
|
|
NM_001032221.6(STXBP1):c.78_79del (p.Glu27fs)
|
rs1554775956
|
|
NM_001032221.6(STXBP1):c.874C>T (p.Arg292Cys)
|
rs786205598
|
|
NM_001036.6(RYR3):c.9290T>G (p.Val3097Gly)
|
rs1555456665
|
|
NM_001039591.3(USP9X):c.7431+9dup
|
rs774054468
|
|
NM_001040142.2(SCN2A):c.1511_1512del (p.Arg504fs)
|
rs2105259822
|
|
NM_001040142.2(SCN2A):c.1988T>A (p.Leu663His)
|
|
|
NM_001040142.2(SCN2A):c.2960G>A (p.Ser987Asn)
|
rs796053124
|
|
NM_001040142.2(SCN2A):c.4591C>T (p.Gln1531Ter)
|
rs1553463032
|
|
NM_001040142.2(SCN2A):c.4727del (p.Gly1576fs)
|
rs1553463096
|
|
NM_001040142.2(SCN2A):c.4801G>T (p.Val1601Leu)
|
rs1553463140
|
|
NM_001040716.2(PC):c.1023-14C>G
|
rs111858832
|
|
NM_001040716.2(PC):c.1717G>A (p.Ala573Thr)
|
rs796052029
|
|
NM_001042424.3(NSD2):c.2826_2827dup (p.Asp943fs)
|
|
|
NM_001042492.3(NF1):c.1801_1803del (p.Arg601del)
|
rs1555613421
|
|
NM_001042492.3(NF1):c.1954C>T (p.Arg652Cys)
|
rs786202436
|
|
NM_001042492.3(NF1):c.4556G>A (p.Gly1519Glu)
|
rs1567863004
|
|
NM_001042492.3(NF1):c.4831C>T (p.Arg1611Trp)
|
rs1060500316
|
|
NM_001042492.3(NF1):c.6024T>C (p.Asp2008=)
|
rs2069668775
|
|
NM_001042492.3(NF1):c.7549C>T (p.Arg2517Ter)
|
rs866445127
|
|
NM_001042545.2(LTBP4):c.2668G>C (p.Ala890Pro)
|
rs1027642827
|
|
NM_001042545.2(LTBP4):c.289G>A (p.Val97Met)
|
|
|
NM_001069.3(TUBB2A):c.161C>A (p.Ala54Asp)
|
rs1762626578
|
|
NM_001080.3(ALDH5A1):c.498G>T (p.Trp166Cys)
|
rs1759244067
|
|
NM_001080437.3(SNED1):c.210_211dup (p.Tyr71fs)
|
rs1553548453
|
|
NM_001080547.2(SPI1):c.325_327delinsAG (p.Gly109fs)
|
rs1565638431
|
|
NM_001082538.3(TCTN1):c.1494+1G>A
|
rs1165243207
|
|
NM_001083619.3(GRIA2):c.1831G>A (p.Asp611Asn)
|
rs1553956958
|
|
NM_001093730.1(DYTN):c.1281_1282dup (p.Glu428fs)
|
rs534558800
|
|
NM_001103.4(ACTN2):c.431A>T (p.Gln144Leu)
|
rs1572114671
|
|
NM_001110556.2(FLNA):c.1267C>T (p.Pro423Ser)
|
rs863223643
|
|
NM_001110556.2(FLNA):c.1571G>A (p.Gly524Glu)
|
rs1557178957
|
|
NM_001110792.2(MECP2):c.1270G>T (p.Val424Phe)
|
rs61753966
|
|
NM_001110792.2(MECP2):c.331dup (p.Thr111fs)
|
rs1603310755
|
|
NM_001110792.2(MECP2):c.413+5G>A
|
rs2148666320
|
|
NM_001113491.2(SEPTIN9):c.316C>T (p.Arg106Trp)
|
rs80338761
|
|
NM_001114123.3(ELK1):c.775G>T (p.Val259Phe)
|
rs2147941597
|
|
NM_001122659.3(EDNRB):c.778G>T (p.Val260Phe)
|
rs77132068
|
|
NM_001122681.2(SH3BP2):c.750T>G (p.Ala250=)
|
rs231399
|
|
NM_001122764.3(PPOX):c.590T>C (p.Ile197Thr)
|
rs1553238545
|
|
NM_001127198.5(TMC6):c.1950C>T (p.Thr650=)
|
rs2613516
|
|
NM_001127222.2(CACNA1A):c.1030ATC[2] (p.Ile346del)
|
rs2058556589
|
|
NM_001127222.2(CACNA1A):c.1199A>T (p.Glu400Val)
|
rs1600353470
|
|
NM_001127222.2(CACNA1A):c.1237C>T (p.Gln413Ter)
|
|
|
NM_001127222.2(CACNA1A):c.5410C>T (p.Leu1804Phe)
|
|
|
NM_001127511.3(APC):c.-191T>C
|
rs879253783
|
|
NM_001128126.3(AP4S1):c.138+3_138+6del
|
rs876661295
|
|
NM_001128840.3(CACNA1D):c.4563A>T (p.Leu1521Phe)
|
rs761795151
|
|
NM_001128840.3(CACNA1D):c.731T>G (p.Val244Gly)
|
rs2108327394
|
|
NM_001129898.2(KRBOX4):c.254-1610_254-1608delinsT
|
rs2146571577
|
|
NM_001130144.3(LTBP3):c.1072G>A (p.Glu358Lys)
|
rs913431428
|
|
NM_001130144.3(LTBP3):c.2893+1G>T
|
rs2135125210
|
|
NM_001130144.3(LTBP3):c.76CTG[9] (p.Leu35del)
|
rs71036212
|
|
NM_001130438.3(SPTAN1):c.3586C>G (p.Arg1196Gly)
|
rs1156936601
|
|
NM_001130438.3(SPTAN1):c.6899ACCAGCTGG[3] (p.2300DQL[3])
|
rs587784440
|
|
NM_001130987.2(DYSF):c.4911G>T (p.Lys1637Asn)
|
rs141704244
|
|
NM_001134407.3(GRIN2A):c.1202C>T (p.Pro401Leu)
|
rs1489261681
|
|
NM_001134407.3(GRIN2A):c.1983A>G (p.Gln661=)
|
rs1327079068
|
|
NM_001134673.4(NFIA):c.220C>T (p.Arg74Ter)
|
rs1553149182
|
|
NM_001136501.3(ZNF844):c.1044_1048del (p.Tyr348_Asn350delinsTer)
|
rs372628445
|
|
NM_001142416.2(AIMP1):c.904A>G (p.Arg302Gly)
|
rs1344482241
|
|
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_001145809.2(MYH14):c.2525T>C (p.Leu842Pro)
|
rs2034878363
|
|
NM_001148.6(ANK2):c.1069C>T (p.Pro357Ser)
|
rs2049005904
|
|
NM_001148.6(ANK2):c.10756+1G>T
|
|
|
NM_001148.6(ANK2):c.4351A>G (p.Thr1451Ala)
|
rs1554536556
|
|
NM_001148.6(ANK2):c.7942G>C (p.Gly2648Arg)
|
rs199828363
|
|
NM_001162501.2(TNRC6B):c.2247G>T (p.Trp749Cys)
|
rs200598254
|
|
NM_001163809.2(WDR81):c.1585C>T (p.Arg529Ter)
|
rs779405050
|
|
NM_001164508.2(NEB):c.2971C>G (p.Leu991Val)
|
rs2148651785
|
|
NM_001165963.4(SCN1A):c.1237T>A (p.Tyr413Asn)
|
rs121917967
|
|
NM_001165963.4(SCN1A):c.345T>A (p.Asn115Lys)
|
rs61741123
|
|
NM_001170629.2(CHD8):c.142C>T (p.Gln48Ter)
|
rs1555318734
|
|
NM_001170629.2(CHD8):c.3308G>T (p.Gly1103Val)
|
rs1064795655
|
|
NM_001172501.3(SLC6A2):c.1584C>G (p.Phe528Leu)
|
rs1085307494
|
|
NM_001172509.2(SATB2):c.19dup (p.Ser7fs)
|
rs1553507389
|
|
NM_001174147.2(LMX1B):c.422_430del (p.Phe141_Cys143del)
|
rs2118986948
|
|
NM_001190274.2(FBXO11):c.2084G>A (p.Gly695Asp)
|
rs2104658680
|
|
NM_001194.4(HCN2):c.1348G>T (p.Val450Leu)
|
rs2144522700
|
|
NM_001203.3(BMPR1B):c.1112G>A (p.Arg371Gln)
|
rs34970181
|
|
NM_001203.3(BMPR1B):c.497A>G (p.Asp166Gly)
|
rs781670372
|
|
NM_001242896.3(DEPDC5):c.4097G>T (p.Arg1366Leu)
|
rs1064795095
|
|
NM_001243133.2(NLRP3):c.726G>A (p.Ala242=)
|
rs3806268
|
|
NM_001244008.2(KIF1A):c.3816+3G>A
|
rs2047809605
|
|
NM_001244008.2(KIF1A):c.946C>T (p.Arg316Trp)
|
rs672601370
|
|
NM_001252102.2(KIF21B):c.2959_2962dup (p.Asn988fs)
|
rs1571930248
|
|
NM_001256067.2(NOXA1):c.870dup (p.Pro291fs)
|
rs773184989
|
|
NM_001256447.2(BCAP31):c.341+2T>G
|
rs1064794057
|
|
NM_001256447.2(BCAP31):c.526A>T (p.Lys176Ter)
|
rs2148370601
|
|
NM_001260.3(CDK8):c.185C>T (p.Ser62Leu)
|
rs1565977796
|
|
NM_001267550.2(TTN):c.100704C>A (p.Tyr33568Ter)
|
rs1553501227
|
|
NM_001267550.2(TTN):c.101242A>C (p.Thr33748Pro)
|
rs1575292990
|
|
NM_001267550.2(TTN):c.107889del (p.Lys35963fs)
|
rs281864930
|
|
NM_001267550.2(TTN):c.13025A>G (p.Lys4342Arg)
|
rs2082249607
|
|
NM_001267550.2(TTN):c.13942G>A (p.Glu4648Lys)
|
rs1553936042
|
|
NM_001267550.2(TTN):c.36449-2A>G
|
|
|
NM_001267550.2(TTN):c.40558G>C (p.Val13520Leu)
|
rs587780488
|
|
NM_001267550.2(TTN):c.489dup (p.Ala164fs)
|
rs1574990483
|
|
NM_001267550.2(TTN):c.58997_59009del (p.Ser19666fs)
|
rs2050621917
|
|
NM_001267550.2(TTN):c.63010G>T (p.Glu21004Ter)
|
rs769345390
|
|
NM_001267550.2(TTN):c.69051A>G (p.Glu23017=)
|
rs770296752
|
|
NM_001267550.2(TTN):c.92631dup (p.Lys30878fs)
|
rs886039145
|
|
NM_001270.4(CHD1):c.1853G>A (p.Arg618Gln)
|
rs1554078349
|
|
NM_001271.4(CHD2):c.1482_1486del (p.Trp494fs)
|
rs2141802567
|
|
NM_001271.4(CHD2):c.3058C>T (p.Gln1020Ter)
|
rs2141847168
|
|
NM_001271.4(CHD2):c.4173dup (p.Gln1392fs)
|
rs749969667
|
|
NM_001271.4(CHD2):c.5035C>T (p.Arg1679Ter)
|
rs797044912
|
|
NM_001271.4(CHD2):c.5202A>C (p.Gln1734His)
|
rs1009699195
|
|
NM_001272071.2(AP1S2):c.40C>T (p.Arg14Ter)
|
rs1555904878
|
|
NM_001282225.2(ADA2):c.1004A>G (p.His335Arg)
|
rs2231495
|
|
NM_001282531.3(ADNP):c.82_85del (p.Leu28fs)
|
rs1982227129
|
|
NM_001283009.2(RTEL1):c.2956del (p.Arg986fs)
|
rs1285014916
|
|
NM_001288705.3(CSF1R):c.1765G>A (p.Gly589Arg)
|
rs1757529135
|
|
NM_001303037.2(PALS2):c.917del (p.Lys306fs)
|
rs757450051
|
|
NM_001303256.3(MORC2):c.1379G>A (p.Gly460Glu)
|
rs1569192110
|
|
NM_001312909.2(FAM111A):c.1706G>A (p.Arg569His)
|
rs587777011
|
|
NM_001318852.2(MAPK8IP3):c.2820-3C>G
|
rs1596807686
|
|
NM_001320.7(CSNK2B):c.367+5del
|
rs1583610622
|
|
NM_001320.7(CSNK2B):c.70G>T (p.Glu24Ter)
|
rs2151182211
|
|
NM_001323289.2(CDKL5):c.59G>T (p.Gly20Val)
|
rs786204962
|
|
NM_001330078.2(NRXN1):c.1244A>G (p.Tyr415Cys)
|
rs371321580
|
|
NM_001330078.2(NRXN1):c.2642A>C (p.Asp881Ala)
|
rs2104919863
|
|
NM_001330078.2(NRXN1):c.4146del (p.Val1383fs)
|
rs2104382191
|
|
NM_001330260.2(SCN8A):c.2287A>G (p.Ile763Val)
|
rs794727128
|
|
NM_001330260.2(SCN8A):c.3942+2_3942+5dup
|
rs764867016
|
|
NM_001330260.2(SCN8A):c.4146_4147dup (p.Asn1383fs)
|
rs1555228380
|
|
NM_001330260.2(SCN8A):c.550A>G (p.Ile184Val)
|
rs1029149299
|
|
NM_001330574.2(ZNF711):c.1379A>T (p.Tyr460Phe)
|
rs2147874862
|
|
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.1451A>T (p.Glu484Val)
|
|
|
NM_001348768.2(HECW2):c.3988C>T (p.Arg1330Trp)
|
rs878854417
|
|
NM_001348768.2(HECW2):c.4334A>G (p.Glu1445Gly)
|
rs878854424
|
|
NM_001348800.3(ZBTB20):c.1805G>A (p.Gly602Asp)
|
rs483353068
|
|
NM_001353345.2(SETD1B):c.4315C>G (p.Pro1439Ala)
|
rs2137578401
|
|
NM_001353921.2(ARHGEF9):c.1107_1108insT (p.Lys370Ter)
|
rs2147218877
|
|
NM_001353921.2(ARHGEF9):c.1115G>A (p.Arg372His)
|
rs2048831313
|
|
NM_001355436.2(SPTB):c.4520G>T (p.Gly1507Val)
|
rs2139530241
|
|
NM_001356.5(DDX3X):c.1710G>A (p.Trp570Ter)
|
rs1555954388
|
|
NM_001356.5(DDX3X):c.629C>T (p.Ala210Val)
|
|
|
NM_001356.5(DDX3X):c.641_643delinsCC (p.Ile214fs)
|
rs1131691571
|
|
NM_001356.5(DDX3X):c.744C>T (p.Gly248=)
|
rs1569238002
|
|
NM_001356.5(DDX3X):c.862A>G (p.Lys288Glu)
|
rs1064796820
|
|
NM_001360.3(DHCR7):c.964-1G>C
|
rs138659167
|
|
NM_001365088.1(SLC12A6):c.1576A>G (p.Thr526Ala)
|
rs1555379629
|
|
NM_001365276.2(TNXB):c.1263_1448del (p.Thr428_Gly489del)
|
rs2127289918
|
|
NM_001365276.2(TNXB):c.2531A>G (p.Gln844Arg)
|
rs1187997184
|
|
NM_001365276.2(TNXB):c.496A>C (p.Thr166Pro)
|
rs2127293388
|
|
NM_001365276.2(TNXB):c.5645C>T (p.Pro1882Leu)
|
|
|
NM_001365276.2(TNXB):c.7338G>C (p.Lys2446Asn)
|
rs2151907242
|
|
NM_001365902.3(NFIX):c.337A>G (p.Lys113Glu)
|
rs1555696597
|
|
NM_001365999.1(SZT2):c.4288G>A (p.Ala1430Thr)
|
rs1553149451
|
|
NM_001365999.1(SZT2):c.5025-2A>G
|
rs1557569831
|
|
NM_001365999.1(SZT2):c.6120_6122del (p.Val2041del)
|
rs746200792
|
|
NM_001366145.2(TRPM3):c.3004G>A (p.Val1002Met)
|
rs1564493599
|
|
NM_001367624.2(ZNF469):c.8048G>A (p.Gly2683Glu)
|
rs912981227
|
|
NM_001367721.1(CASK):c.1465C>T (p.Arg489Trp)
|
rs1114167352
|
|
NM_001367721.1(CASK):c.1480C>T (p.Gln494Ter)
|
rs1064796879
|
|
NM_001367721.1(CASK):c.2392C>T (p.Gln798Ter)
|
rs749742837
|
|
NM_001368894.2(PAX6):c.574C>T (p.Gln192Ter)
|
rs1565207028
|
|
NM_001368894.2(PAX6):c.808-2A>C
|
rs1554983251
|
|
NM_001370100.5(ZMYND11):c.1262G>A (p.Ser421Asn)
|
rs869320713
|
|
NM_001370259.2(MEN1):c.652C>T (p.Arg218Trp)
|
rs794728620
|
|
NM_001371333.1(DIABLO):c.98G>A (p.Arg33Gln)
|
rs758602603
|
|
NM_001371727.1(GABRB2):c.754C>A (p.Pro252Thr)
|
rs869312861
|
|
NM_001371727.1(GABRB2):c.910G>A (p.Ala304Thr)
|
rs1753822738
|
|
NM_001371928.1(AHDC1):c.1167del (p.Arg389fs)
|
rs1553159581
|
|
NM_001371928.1(AHDC1):c.1169del (p.Pro390fs)
|
rs1553159575
|
|
NM_001371986.1(UNC80):c.653T>C (p.Met218Thr)
|
rs761062440
|
|
NM_001372044.2(SHANK3):c.3989_4001del (p.Arg1330fs)
|
rs886041238
|
|
NM_001372051.1(CASP8):c.853G>C (p.Asp285His)
|
rs1045485
|
|
NM_001374828.1(ARID1B):c.5407del (p.Leu1803fs)
|
rs1794427847
|
|
NM_001374828.1(ARID1B):c.5773C>T (p.Arg1925Ter)
|
rs797045282
|
|
NM_001375380.1(EBF3):c.833del (p.Gly278fs)
|
rs1589745620
|
|
NM_001375524.1(TRRAP):c.1327G>A (p.Asp443Asn)
|
rs2116398727
|
|
NM_001375524.1(TRRAP):c.5498A>G (p.Asp1833Gly)
|
rs1474271397
|
|
NM_001375524.1(TRRAP):c.5842A>G (p.Met1948Val)
|
rs2116634460
|
|
NM_001375808.2(LPIN2):c.10G>T (p.Val4Leu)
|
rs2143203306
|
|
NM_001376.5(DYNC1H1):c.3278T>C (p.Phe1093Ser)
|
rs1555408829
|
|
NM_001376.5(DYNC1H1):c.9959C>T (p.Ala3320Val)
|
rs1555411305
|
|
NM_001377265.1(MAPT):c.2090G>T (p.Ser697Ile)
|
rs63751165
|
|
NM_001378414.1(HDAC4):c.743C>T (p.Pro248Leu)
|
rs1064797002
|
|
NM_001378452.1(ITPR1):c.4333G>A (p.Val1445Met)
|
rs1559718601
|
|
NM_001378454.1(ALMS1):c.7740G>C (p.Glu2580Asp)
|
rs543921060
|
|
NM_001378969.1(KCND3):c.868C>T (p.Arg290Trp)
|
rs1674966199
|
|
NM_001379029.1(CERT1):c.1823G>C (p.Arg608Pro)
|
|
|
NM_001379270.1(CNGA1):c.1570G>C (p.Ala524Pro)
|
rs373946784
|
|
NM_001386140.1(MTTP):c.787G>A (p.Ala263Thr)
|
rs755170053
|
|
NM_001386393.1(PANK2):c.713A>T (p.Tyr238Phe)
|
|
|
NM_001389.5(DSCAM):c.2487C>G (p.Asn829Lys)
|
|
|
NM_001394062.1(MACF1):c.3943A>G (p.Thr1315Ala)
|
|
|
NM_001394531.1(WDFY4):c.8253C>A (p.Asn2751Lys)
|
rs767111707
|
|
NM_001394962.1(KIAA1210):c.577T>G (p.Ser193Ala)
|
rs369956899
|
|
NM_001394998.1(TANC2):c.1171C>T (p.Pro391Ser)
|
rs373599249
|
|
NM_001394998.1(TANC2):c.4868dup (p.Gln1625fs)
|
|
|
NM_001429.4(EP300):c.3031G>C (p.Glu1011Gln)
|
rs775368605
|
|
NM_001457.4(FLNB):c.4859C>A (p.Thr1620Lys)
|
rs753946814
|
|
NM_001458.5(FLNC):c.2036C>T (p.Pro679Leu)
|
rs975517733
|
|
NM_001540.5(HSPB1):c.184G>A (p.Ala62Thr)
|
rs1064796602
|
|
NM_001572.5(IRF7):c.1146A>C (p.Gly382=)
|
rs1061505
|
|
NM_001572.5(IRF7):c.184-4_184-3delinsAA
|
rs386749598
|
|
NM_001614.5(ACTG1):c.824A>G (p.His275Arg)
|
|
|
NM_001615.4(ACTG2):c.478G>A (p.Val160Ile)
|
rs761385269
|
|
NM_001702.3(ADGRB1):c.2696dup (p.Gln900fs)
|
rs1554616325
|
|
NM_001830.4(CLCN4):c.806G>A (p.Gly269Asp)
|
rs1131691687
|
|
NM_001844.5(COL2A1):c.3274-9_3274-6del
|
rs1555165173
|
|
NM_001844.5(COL2A1):c.4018A>G (p.Lys1340Glu)
|
rs927945133
|
|
NM_001845.6(COL4A1):c.2075C>G (p.Pro692Arg)
|
rs1566356383
|
|
NM_001848.3(COL6A1):c.181A>G (p.Lys61Glu)
|
rs1439633596
|
|
NM_001854.4(COL11A1):c.4094C>T (p.Pro1365Leu)
|
rs1652816919
|
|
NM_001854.4(COL11A1):c.5029A>G (p.Arg1677Gly)
|
|
|
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_001927.4(DES):c.1273G>C (p.Ala425Pro)
|
|
|
NM_001958.5(EEF1A2):c.754G>C (p.Asp252His)
|
rs786205865
|
|
NM_001961.4(EEF2):c.1979A>G (p.Asn660Ser)
|
rs945307250
|
|
NM_001999.4(FBN2):c.4244G>T (p.Gly1415Val)
|
rs2126889179
|
|
NM_001999.4(FBN2):c.8082C>A (p.His2694Gln)
|
rs142755118
|
|
NM_002016.2(FLG):c.1501C>T (p.Arg501Ter)
|
rs61816761
|
|
NM_002016.2(FLG):c.2143C>T (p.Gln715Ter)
|
rs797045090
|
|
NM_002016.2(FLG):c.2282_2285del (p.Ser761fs)
|
rs558269137
|
|
NM_002016.2(FLG):c.7339C>T (p.Arg2447Ter)
|
rs138726443
|
|
NM_002029.4(FPR1):c.1037A>C (p.Glu346Ala)
|
rs867228
|
|
NM_002029.4(FPR1):c.576T>C (p.Asn192=)
|
rs1042229
|
|
NM_002047.2(GARS1):c.-45C>G
|
rs903029869
|
|
NM_002074.5(GNB1):c.233A>G (p.Lys78Arg)
|
rs869312823
|
|
NM_002103.5(GYS1):c.101G>T (p.Trp34Leu)
|
rs1131691586
|
|
NM_002116.8(HLA-A):c.776del (p.Pro259fs)
|
rs1554115495
|
|
NM_002192.4(INHBA):c.1050C>G (p.Cys350Trp)
|
rs1562565534
|
|
NM_002206.3(ITGA7):c.3349A>C (p.Ile1117Leu)
|
rs1482793424
|
|
NM_002206.3(ITGA7):c.671-285A>G
|
rs1873675449
|
|
NM_002240.5(KCNJ6):c.8A>T (p.Lys3Met)
|
rs748430470
|
|
NM_002294.3(LAMP2):c.815T>G (p.Leu272Arg)
|
rs1569369217
|
|
NM_002317.7(LOX):c.1044T>A (p.Ser348Arg)
|
rs1561417568
|
|
NM_002317.7(LOX):c.545C>G (p.Pro182Arg)
|
rs1261420416
|
|
NM_002317.7(LOX):c.732_735del (p.Cys244fs)
|
rs779512296
|
|
NM_002332.3(LRP1):c.10129G>A (p.Gly3377Arg)
|
rs1555187467
|
|
NM_002332.3(LRP1):c.10277G>C (p.Cys3426Ser)
|
rs1592657298
|
|
NM_002334.4(LRP4):c.5060G>A (p.Arg1687His)
|
rs751407728
|
|
NM_002335.4(LRP5):c.4349-8C>A
|
rs2153181939
|
|
NM_002354.3(EPCAM):c.-1C>G
|
rs533255660
|
|
NM_002373.6(MAP1A):c.3571C>G (p.Pro1191Ala)
|
rs2079336838
|
|
NM_002397.5(MEF2C):c.411del (p.Pro138fs)
|
rs1581753788
|
|
NM_002397.5(MEF2C):c.413del (p.Pro138fs)
|
rs1581753587
|
|
NM_002397.5(MEF2C):c.454_465delinsTGACA (p.His152_Leu155delinsTer)
|
rs2152525511
|
|
NM_002397.5(MEF2C):c.51_54del (p.Arg17_Gln18insTer)
|
rs1554150543
|
|
NM_002397.5(MEF2C):c.68A>G (p.Lys23Arg)
|
rs797045053
|
|
NM_002437.5(MPV17):c.405C>G (p.Tyr135Ter)
|
rs774833271
|
|
NM_002439.5(MSH3):c.1914CTT[1] (p.Phe639del)
|
rs758193305
|
|
NM_002473.6(MYH9):c.5563C>T (p.Arg1855Trp)
|
rs1436597250
|
|
NM_002485.5(NBN):c.818C>G (p.Thr273Arg)
|
rs1554563912
|
|
NM_002485.5(NBN):c.93_94del (p.Ala32fs)
|
rs864622253
|
|
NM_002495.4(NDUFS4):c.351-11_351-8del
|
rs375549253
|
|
NM_002524.5(NRAS):c.317C>T (p.Ser106Leu)
|
rs797045795
|
|
NM_002576.5(PAK1):c.379G>A (p.Val127Met)
|
rs2137081902
|
|
NM_002585.4(PBX1):c.616del (p.Arg206fs)
|
rs2102319548
|
|
NM_002691.4(POLD1):c.1481T>A (p.Ile494Asn)
|
rs1601217092
|
|
NM_002691.4(POLD1):c.208G>T (p.Val70Phe)
|
rs147911699
|
|
NM_002693.3(POLG):c.2383A>C (p.Asn795His)
|
rs1555452983
|
|
NM_002693.3(POLG):c.260T>C (p.Ile87Thr)
|
rs776347449
|
|
NM_002734.5(PRKAR1A):c.1102C>T (p.Arg368Ter)
|
rs387906692
|
|
NM_002734.5(PRKAR1A):c.535C>T (p.Gln179Ter)
|
rs141913727
|
|
NM_002816.5(PSMD12):c.112G>A (p.Gly38Arg)
|
rs2042087429
|
|
NM_002880.4(RAF1):c.278C>T (p.Pro93Leu)
|
rs1559438381
|
|
NM_002907.4(RECQL):c.623A>G (p.Tyr208Cys)
|
rs2137374083
|
|
NM_002979.5(SCP2):c.825G>T (p.Met275Ile)
|
rs1557580517
|
|
NM_003042.4(SLC6A1):c.863C>T (p.Ala288Val)
|
rs794726860
|
|
NM_003042.4(SLC6A1):c.871C>T (p.Gln291Ter)
|
rs1064795098
|
|
NM_003070.5(SMARCA2):c.2561A>G (p.His854Arg)
|
rs281875202
|
|
NM_003106.4(SOX2):c.100C>T (p.Gln34Ter)
|
rs1714841256
|
|
NM_003172.4(SURF1):c.588+1G>A
|
rs1219762677
|
|
NM_003238.6(TGFB2):c.904C>T (p.Arg302Cys)
|
rs869312903
|
|
NM_003238.6(TGFB2):c.905G>A (p.Arg302His)
|
rs1553303213
|
|
NM_003242.6(TGFBR2):c.1159G>A (p.Val387Met)
|
rs35766612
|
|
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_003477.3(PDHX):c.794C>T (p.Thr265Ile)
|
|
|
NM_003573.2(LTBP4):c.230+2T>G
|
rs2146012706
|
|
NM_003620.4(PPM1D):c.1437dup (p.Lys480Ter)
|
rs769754801
|
|
NM_003718.5(CDK13):c.2511T>G (p.Asp837Glu)
|
rs759838977
|
|
NM_003737.4(DCHS1):c.5912G>T (p.Arg1971Leu)
|
rs138329507
|
|
NM_003803.4(MYOM1):c.4148T>A (p.Ile1383Asn)
|
rs374491316
|
|
NM_003900.5(SQSTM1):c.105_123dup (p.Gly42fs)
|
rs1064794783
|
|
NM_003931.3(WASF1):c.-2A>G
|
|
|
NM_004004.6(GJB2):c.35del (p.Gly12fs)
|
rs80338939
|
|
NM_004006.3(DMD):c.5082G>A (p.Trp1694Ter)
|
rs1295394996
|
|
NM_004006.3(DMD):c.9749A>C (p.Glu3250Ala)
|
rs2148540881
|
|
NM_004082.5(DCTN1):c.2680A>G (p.Asn894Asp)
|
rs1437825772
|
|
NM_004082.5(DCTN1):c.3629C>T (p.Thr1210Ile)
|
rs565866230
|
|
NM_004113.6(FGF12):c.155G>A (p.Arg52His)
|
rs886039903
|
|
NM_004168.4(SDHA):c.1012del (p.Ala338fs)
|
rs1295239305
|
|
NM_004187.5(KDM5C):c.470A>G (p.Tyr157Cys)
|
rs1556852793
|
|
NM_004278.4(PIGL):c.438C>A (p.Phe146Leu)
|
rs773591135
|
|
NM_004287.5(GOSR2):c.22dup (p.Thr8fs)
|
rs746855352
|
|
NM_004319.3(ASTN1):c.3515A>T (p.Glu1172Val)
|
rs1553217993
|
|
NM_004320.6(ATP2A1):c.2464dup (p.Arg822fs)
|
rs751365374
|
|
NM_004329.3(BMPR1A):c.1231G>A (p.Glu411Lys)
|
rs786202611
|
|
NM_004333.6(BRAF):c.1992+16G>C
|
rs3789806
|
|
NM_004360.5(CDH1):c.1137G>A (p.Thr379=)
|
rs587783050
|
|
NM_004360.5(CDH1):c.1454T>C (p.Ile485Thr)
|
rs587783049
|
|
NM_004360.5(CDH1):c.1565+1G>A
|
rs587780113
|
|
NM_004360.5(CDH1):c.2090A>G (p.Lys697Arg)
|
rs1961233865
|
|
NM_004369.4(COL6A3):c.5731C>T (p.Leu1911Phe)
|
rs2106349155
|
|
NM_004369.4(COL6A3):c.6354+1G>A
|
rs886042883
|
|
NM_004370.6(COL12A1):c.266A>C (p.Glu89Ala)
|
rs1278211393
|
|
NM_004370.6(COL12A1):c.2893C>G (p.Leu965Val)
|
rs771868336
|
|
NM_004370.6(COL12A1):c.5194T>G (p.Ser1732Ala)
|
rs750726658
|
|
NM_004408.4(DNM1):c.1335+1638G>A
|
rs747079285
|
|
NM_004456.5(EZH2):c.1876G>A (p.Val626Met)
|
rs587783625
|
|
NM_004481.5(GALNT2):c.526G>C (p.Asp176His)
|
rs2102736154
|
|
NM_004493.3(HSD17B10):c.439C>T (p.Arg147Cys)
|
rs1064794694
|
|
NM_004500.4(HNRNPC):c.850_876del (p.Arg284_Asp292del)
|
rs1284488942
|
|
NM_004519.4(KCNQ3):c.1657G>A (p.Gly553Arg)
|
rs1825159081
|
|
NM_004519.4(KCNQ3):c.688C>T (p.Arg230Cys)
|
rs796052676
|
|
NM_004522.3(KIF5C):c.709G>A (p.Glu237Lys)
|
rs587777570
|
|
NM_004525.3(LRP2):c.11114G>T (p.Cys3705Phe)
|
rs1574095388
|
|
NM_004525.3(LRP2):c.5657A>G (p.Tyr1886Cys)
|
rs1574143454
|
|
NM_004545.4(NDUFB1):c.140+5G>A
|
rs1251993950
|
|
NM_004588.5(SCN2B):c.-18_-14delinsCTGTGCATT
|
rs1948469133
|
|
NM_004589.4(SCO1):c.769A>C (p.Ile257Leu)
|
rs1234427803
|
|
NM_004595.5(SMS):c.665A>T (p.Asp222Val)
|
rs1556001304
|
|
NM_004655.4(AXIN2):c.267A>T (p.Gln89His)
|
rs2044305289
|
|
NM_004656.4(BAP1):c.2100del (p.Arg701fs)
|
rs2153226109
|
|
NM_004656.4(BAP1):c.271T>C (p.Cys91Arg)
|
rs1705222655
|
|
NM_004850.5(ROCK2):c.2878G>C (p.Glu960Gln)
|
rs1558285391
|
|
NM_004859.4(CLTC):c.681+2dup
|
rs1598214612
|
|
NM_004863.4(SPTLC2):c.768T>G (p.Ile256Met)
|
rs879254003
|
|
NM_004958.4(MTOR):c.6674dup (p.Tyr2225Ter)
|
rs1642559236
|
|
NM_004958.4(MTOR):c.7391G>T (p.Gly2464Val)
|
rs1641758308
|
|
NM_004958.4(MTOR):c.7576G>A (p.Glu2526Lys)
|
rs1641671309
|
|
NM_004974.4(KCNA2):c.1195G>A (p.Val399Met)
|
rs1064794738
|
|
NM_004974.4(KCNA2):c.235G>A (p.Asp79Asn)
|
rs747844549
|
|
NM_004974.4(KCNA2):c.739A>G (p.Lys247Glu)
|
rs2101399657
|
|
NM_004985.5(KRAS):c.451-5588T>C
|
rs1057517885
|
|
NM_004990.4(MARS1):c.1662_1667del (p.Lys554_Asp555del)
|
rs1555168270
|
|
NM_005015.3(OXA1L):c.159dup (p.Ala54Serfs)
|
rs559124780
|
|
NM_005040.4(PRCP):c.1290C>A (p.Asp430Glu)
|
|
|
NM_005045.4(RELN):c.1760A>G (p.Asn587Ser)
|
rs1562940963
|
|
NM_005068.3(SIM1):c.1298C>A (p.Ser433Ter)
|
rs1057518333
|
|
NM_005154.5(USP8):c.3130C>G (p.Pro1044Ala)
|
rs900013674
|
|
NM_005157.6(ABL1):c.760G>A (p.Gly254Arg)
|
rs1831099962
|
|
NM_005216.4(DDOST):c.20C>G (p.Ala7Gly)
|
rs1391192747
|
|
NM_005216.5(DDOST):c.1274T>A (p.Phe425Tyr)
|
rs374032054
|
|
NM_005235.3(ERBB4):c.2524C>T (p.Arg842Trp)
|
rs1240072004
|
|
NM_005249.5(FOXG1):c.1062del (p.Ser355fs)
|
rs1881817310
|
|
NM_005257.6(GATA6):c.1366C>T (p.Arg456Cys)
|
rs387906818
|
|
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_005465.7(AKT3):c.543_546del (p.Glu182fs)
|
rs1680073345
|
|
NM_005506.4(SCARB2):c.434_435dup (p.Trp146fs)
|
rs727502773
|
|
NM_005529.7(HSPG2):c.11863G>T (p.Val3955Leu)
|
rs145155624
|
|
NM_005591.4(MRE11):c.193A>G (p.Asn65Asp)
|
rs1947135355
|
|
NM_005718.5(ARPC4):c.472C>T (p.Arg158Cys)
|
rs2125650298
|
|
NM_005802.5(TOPORS):c.2995A>T (p.Arg999Ter)
|
rs1554671322
|
|
NM_005862.3(STAG1):c.1150G>C (p.Asp384His)
|
rs1057524850
|
|
NM_005876.5(SPEG):c.6971T>A (p.Ile2324Asn)
|
rs201170917
|
|
NM_006005.3(WFS1):c.2296C>T (p.His766Tyr)
|
rs1553878946
|
|
NM_006005.3(WFS1):c.2528A>T (p.Lys843Met)
|
rs763464027
|
|
NM_006009.4(TUBA1A):c.1151T>A (p.Ile384Asn)
|
rs1565626962
|
|
NM_006009.4(TUBA1A):c.1298AGG[1] (p.Glu434del)
|
rs1555162244
|
|
NM_006012.4(CLPP):c.1A>G (p.Met1Val)
|
rs1217350095
|
|
NM_006015.6(ARID1A):c.1325T>C (p.Met442Thr)
|
rs2124785718
|
|
NM_006015.6(ARID1A):c.6410C>A (p.Ala2137Asp)
|
rs1553153771
|
|
NM_006032.4(CPNE6):c.881C>T (p.Thr294Ile)
|
rs1566550951
|
|
NM_006047.6(RBM12):c.1592_1593delinsGGCT (p.Met531fs)
|
rs2146348720
|
|
NM_006070.6(TFG):c.302A>G (p.Gln101Arg)
|
rs1576366326
|
|
NM_006087.4(TUBB4A):c.1172G>A (p.Arg391His)
|
rs886041021
|
|
NM_006178.4(NSF):c.1289C>T (p.Ala430Val)
|
rs1568034157
|
|
NM_006186.4(NR4A2):c.1576G>T (p.Glu526Ter)
|
rs2105591753
|
|
NM_006231.4(POLE):c.840A>C (p.Lys280Asn)
|
rs908089476
|
|
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_006258.4(PRKG1):c.1714C>A (p.Pro572Thr)
|
rs1589761666
|
|
NM_006351.4(TIMM44):c.923C>A (p.Pro308Gln)
|
rs139625465
|
|
NM_006386.5(DDX17):c.776A>G (p.Gln259Arg)
|
rs2145699293
|
|
NM_006420.2(ARFGEF2):c.1062_1067del
|
rs1555810077
|
|
NM_006440.5(TXNRD2):c.29G>C (p.Gly10Ala)
|
rs1159919237
|
|
NM_006514.4(SCN10A):c.368C>G (p.Ala123Gly)
|
rs537640516
|
|
NM_006516.4(SLC2A1):c.2T>C (p.Met1Thr)
|
rs1553157935
|
|
NM_006565.4(CTCF):c.979T>C (p.Cys327Arg)
|
rs2052136913
|
|
NM_006580.4(CLDN16):c.148T>G (p.Cys50Gly)
|
rs1430185772
|
|
NM_006593.4(TBR1):c.1588_1594dup (p.Thr532fs)
|
rs869312704
|
|
NM_006610.4(MASP2):c.551G>A (p.Cys184Tyr)
|
rs1553161980
|
|
NM_006734.4(HIVEP2):c.1189G>T (p.Asp397Tyr)
|
rs869312847
|
|
NM_006755.2(TALDO1):c.409G>T (p.Asp137Tyr)
|
rs376434268
|
|
NM_006767.4(LZTR1):c.202C>A (p.Arg68Ser)
|
rs886041418
|
|
NM_006767.4(LZTR1):c.742G>A (p.Gly248Arg)
|
rs869320686
|
|
NM_006772.3(SYNGAP1):c.3583-9G>A
|
rs1554122689
|
|
NM_006796.3(AFG3L2):c.1378G>A (p.Asp460Asn)
|
rs2143165387
|
|
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_006846.4(SPINK5):c.964G>A (p.Asp322Asn)
|
rs1561686908
|
|
NM_006852.6(TLK2):c.1832T>G (p.Leu611Arg)
|
rs1598875720
|
|
NM_006852.6(TLK2):c.367C>T (p.Arg123Ter)
|
rs758726258
|
|
NM_006887.5(ZFP36L2):c.1426dup (p.Ser476fs)
|
rs1558427702
|
|
NM_006922.4(SCN3A):c.1060A>C (p.Lys354Gln)
|
rs1553535457
|
|
NM_006939.4(SOS2):c.3530C>T (p.Pro1177Leu)
|
rs1566814839
|
|
NM_006941.4(SOX10):c.89C>A (p.Ser30Ter)
|
rs1932477493
|
|
NM_007118.4(TRIO):c.1369-1G>A
|
|
|
NM_007118.4(TRIO):c.4394A>G (p.Asn1465Ser)
|
rs1747669042
|
|
NM_007118.4(TRIO):c.7049C>G (p.Pro2350Arg)
|
rs754870679
|
|
NM_007194.4(CHEK2):c.676_677del (p.Leu226fs)
|
|
|
NM_007194.4(CHEK2):c.79C>G (p.Gln27Glu)
|
rs376736188
|
|
NM_007194.4(CHEK2):c.909-8T>C
|
rs1569121935
|
|
NM_007217.4(PDCD10):c.269-1G>C
|
rs1559952467
|
|
NM_007254.4(PNKP):c.1385G>C (p.Arg462Pro)
|
rs376854895
|
|
NM_007255.3(B4GALT7):c.283C>G (p.Leu95Val)
|
rs926913315
|
|
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_007294.4(BRCA1):c.68_69del (p.Glu23fs)
|
rs80357914
|
|
NM_007314.4(ABL2):c.1348_1349insT (p.Lys450fs)
|
rs2102613028
|
|
NM_007315.4(STAT1):c.979A>G (p.Thr327Ala)
|
rs1553495586
|
|
NM_007317.3(KIF22):c.446G>T (p.Arg149Leu)
|
rs193922922
|
|
NM_007327.4(GRIN1):c.1334G>A (p.Gly445Asp)
|
rs147435860
|
|
NM_007327.4(GRIN1):c.1923G>A (p.Met641Ile)
|
rs1060500046
|
|
NM_007327.4(GRIN1):c.1974C>G (p.Asp658Glu)
|
rs1064795712
|
|
NM_012186.3(FOXE3):c.575CGCCCG[1] (p.192AP[1])
|
rs1336140217
|
|
NM_012193.4(FZD4):c.40_49del (p.Pro14fs)
|
rs1555086007
|
|
NM_012280.4(FTSJ1):c.620del (p.Pro207fs)
|
rs2147096084
|
|
NM_012309.5(SHANK2):c.1924C>T (p.Arg642Ter)
|
rs2134275196
|
|
NM_012309.5(SHANK2):c.4592_4593del (p.Thr1531fs)
|
rs1565526722
|
|
NM_013254.4(TBK1):c.1387_1388del (p.Glu463fs)
|
rs1555204731
|
|
NM_013275.6(ANKRD11):c.3701A>G (p.Asn1234Ser)
|
rs2151753726
|
|
NM_013275.6(ANKRD11):c.6581A>G (p.Gln2194Arg)
|
rs1364705691
|
|
NM_013275.6(ANKRD11):c.6847C>T (p.Gln2283Ter)
|
rs1221781038
|
|
NM_013314.4(BLNK):c.171T>C (p.Pro57=)
|
rs727852
|
|
NM_013382.7(POMT2):c.936C>G (p.Asp312Glu)
|
rs186690580
|
|
NM_013386.5(SLC25A24):c.650G>A (p.Arg217His)
|
rs1553253989
|
|
NM_013436.5(NCKAP1):c.2320C>A (p.Gln774Lys)
|
|
|
NM_014023.4(WDR37):c.374C>T (p.Thr125Ile)
|
rs1554823375
|
|
NM_014112.5(TRPS1):c.1630C>T (p.Arg544Ter)
|
rs886040971
|
|
NM_014140.4(SMARCAL1):c.1947C>T (p.Asp649=)
|
rs2066526
|
|
NM_014141.6(CNTNAP2):c.2743C>T (p.Arg915Cys)
|
rs756798140
|
|
NM_014225.6(PPP2R1A):c.539T>C (p.Met180Thr)
|
rs1600167941
|
|
NM_014233.4(UBTF):c.628G>A (p.Glu210Lys)
|
rs1555582065
|
|
NM_014239.4(EIF2B2):c.607_612delinsTG (p.Met203fs)
|
rs113994014
|
|
NM_014253.3(TENM1):c.1788_1792del (p.Cys596_Asp598delinsTer)
|
rs2051127747
|
|
NM_014271.4(IL1RAPL1):c.621AGA[1] (p.Glu208del)
|
rs1064795372
|
|
NM_014297.5(ETHE1):c.482G>A (p.Cys161Tyr)
|
rs1555762722
|
|
NM_014363.6(SACS):c.5917A>G (p.Lys1973Glu)
|
|
|
NM_014363.6(SACS):c.8487G>A (p.Met2829Ile)
|
rs1566062847
|
|
NM_014365.3(HSPB8):c.577_580dup (p.Thr194fs)
|
rs1954727878
|
|
NM_014516.4(CNOT3):c.169C>T (p.Arg57Trp)
|
rs2074547544
|
|
NM_014633.5(CTR9):c.373A>G (p.Met125Val)
|
rs1862865944
|
|
NM_014727.3(KMT2B):c.648_649insA (p.Arg217fs)
|
rs1599668553
|
|
NM_014844.5(TECPR2):c.531G>T (p.Gln177His)
|
rs1428893711
|
|
NM_014946.4(SPAST):c.1459A>C (p.Asn487His)
|
rs1553318323
|
|
NM_015047.3(EMC1):c.2087G>A (p.Trp696Ter)
|
rs1558096194
|
|
NM_015080.4(NRXN2):c.5065A>C (p.Lys1689Gln)
|
rs1591422154
|
|
NM_015100.4(POGZ):c.284-1G>C
|
rs2102308563
|
|
NM_015107.3(PHF8):c.-60C>T
|
rs1557116325
|
|
NM_015178.3(RHOBTB2):c.1837C>G (p.Leu613Val)
|
rs753611203
|
|
NM_015215.4(CAMTA1):c.1A>G (p.Met1Val)
|
rs1638882060
|
|
NM_015215.4(CAMTA1):c.423G>C (p.Lys141Asn)
|
rs1666321359
|
|
NM_015225.3(PRUNE2):c.337C>A (p.Leu113Met)
|
rs1554808146
|
|
NM_015335.4(MED13L):c.5996_5998delinsGTA (p.Phe1999_Pro2000delinsCysThr)
|
rs1555241160
|
|
NM_015335.5(MED13L):c.1684C>T (p.Gln562Ter)
|
rs2137385115
|
|
NM_015335.5(MED13L):c.1A>G (p.Met1Val)
|
rs1131691818
|
|
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_015488.5(PNKD):c.408C>G (p.Ile136Met)
|
rs763052723
|
|
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.1568del (p.His523fs)
|
rs886041469
|
|
NM_015559.3(SETBP1):c.2612T>G (p.Ile871Ser)
|
rs267607038
|
|
NM_015713.5(RRM2B):c.979C>T (p.Arg327Ter)
|
rs121918310
|
|
NM_016011.4(MECR):c.-39G>C
|
rs749435497
|
|
NM_016069.11(PAM16):c.112C>G (p.Arg38Gly)
|
rs1314983113
|
|
NM_016194.4(GNB5):c.348_352del (p.Asp116fs)
|
rs1085307675
|
|
NM_016239.4(MYO15A):c.1661dup (p.Leu555fs)
|
rs1245338270
|
|
NM_016239.4(MYO15A):c.7124_7127del (p.Asp2375fs)
|
rs780170125
|
|
NM_016284.5(CNOT1):c.3113C>T (p.Thr1038Ile)
|
rs2040453527
|
|
NM_016284.5(CNOT1):c.3265G>C (p.Val1089Leu)
|
rs2040438229
|
|
NM_016373.4(WWOX):c.629A>G (p.Asn210Ser)
|
rs767929766
|
|
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_016734.3(PAX5):c.661C>T (p.Arg221Trp)
|
rs2132194720
|
|
NM_017449.5(EPHB2):c.595C>T (p.Arg199Cys)
|
rs1020423787
|
|
NM_017514.5(PLXNA3):c.1008_1009insAGAG (p.Leu337fs)
|
rs2148245076
|
|
NM_017534.6(MYH2):c.2609C>T (p.Ala870Val)
|
rs1567731278
|
|
NM_017617.5(NOTCH1):c.6109G>T (p.Ala2037Ser)
|
rs1060502237
|
|
NM_017635.5(KMT5B):c.1174+5G>C
|
rs2153047237
|
|
NM_017654.4(SAMD9):c.1796A>T (p.Asp599Val)
|
rs2116419034
|
|
NM_017668.3(NDE1):c.948-7057G>A
|
rs371348553
|
|
NM_017671.5(FERMT1):c.1812G>A (p.Trp604Ter)
|
rs1172664527
|
|
NM_017780.4(CHD7):c.3655C>T (p.Arg1219Ter)
|
rs372174845
|
|
NM_017857.4(SSH3):c.1383_1384dup (p.Ile462fs)
|
rs773711729
|
|
NM_017934.7(PHIP):c.2319+1del
|
rs1582180665
|
|
NM_017934.7(PHIP):c.600+1del
|
rs1554210066
|
|
NM_018082.6(POLR3B):c.1094C>T (p.Ala365Val)
|
rs2037218302
|
|
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_018196.4(TMLHE):c.794C>T (p.Thr265Ile)
|
rs1557332788
|
|
NM_018249.6(CDK5RAP2):c.4129G>T (p.Asp1377Tyr)
|
rs747188549
|
|
NM_018255.4(ELP2):c.1518_1521del (p.Asn506fs)
|
rs867944805
|
|
NM_018344.6(SLC29A3):c.714_715inv (p.Val239Ile)
|
|
|
NM_018398.3(CACNA2D3):c.25_29del (p.Arg9fs)
|
rs1699498998
|
|
NM_018489.3(ASH1L):c.4224_4225del (p.Tyr1409fs)
|
rs1570934766
|
|
NM_018684.4(ZC4H2):c.54-1G>A
|
rs1569201245
|
|
NM_018699.4(PRDM5):c.1208C>G (p.Pro403Arg)
|
rs769647986
|
|
NM_018834.6(MATR3):c.341G>C (p.Ser114Thr)
|
rs1554146456
|
|
NM_018896.5(CACNA1G):c.1471G>T (p.Val491Phe)
|
rs201788352
|
|
NM_018896.5(CACNA1G):c.3315C>A (p.Ser1105Arg)
|
rs1216562585
|
|
NM_018896.5(CACNA1G):c.5144G>A (p.Arg1715His)
|
rs755221106
|
|
NM_018896.5(CACNA1G):c.6508T>A (p.Trp2170Arg)
|
|
|
NM_018990.4(SASH3):c.1040G>A (p.Arg347His)
|
|
|
NM_019066.5(MAGEL2):c.1601del (p.Pro534fs)
|
rs1890397401
|
|
NM_020247.5(COQ8A):c.337G>T (p.Glu113Ter)
|
rs765966679
|
|
NM_020311.3(ACKR3):c.772G>A (p.Val258Met)
|
rs200582844
|
|
NM_020318.3(PAPPA2):c.1013TCT[2] (p.Phe340del)
|
rs773901878
|
|
NM_020435.4(GJC2):c.1254_1258delinsCG (p.Lys418_Arg420delinsAsnGly)
|
rs1553262641
|
|
NM_020631.6(PLEKHG5):c.2233C>A (p.Pro745Thr)
|
rs756501907
|
|
NM_020661.4(AICDA):c.428-17dup
|
rs5796316
|
|
NM_020686.6(ABAT):c.448-1G>T
|
rs1555491838
|
|
NM_020699.4(GATAD2B):c.1196del (p.Gln399fs)
|
rs1553188054
|
|
NM_020699.4(GATAD2B):c.346C>T (p.Arg116Ter)
|
rs886041621
|
|
NM_020745.4(AARS2):c.539T>C (p.Leu180Pro)
|
rs2153357304
|
|
NM_020751.3(COG6):c.851C>G (p.Ala284Gly)
|
rs148869108
|
|
NM_020783.4(SYT4):c.1del (p.Met1fs)
|
rs779678442
|
|
NM_020791.4(TAOK1):c.825_826insCT (p.Leu276_Lys277insTer)
|
rs1555564792
|
|
NM_020843.4(SCAPER):c.2166-3C>G
|
rs1598279469
|
|
NM_020925.4(CACHD1):c.1387G>A (p.Asp463Asn)
|
rs1648970624
|
|
NM_020928.2(ZSWIM6):c.3487C>T (p.Arg1163Trp)
|
rs587777695
|
|
NM_020937.4(FANCM):c.1880G>A (p.Arg627Gln)
|
rs777379515
|
|
NM_020975.6(RET):c.1828A>C (p.Asn610His)
|
rs1837994023
|
|
NM_021076.4(NEFH):c.1054C>A (p.Arg352Ser)
|
rs149955255
|
|
NM_021120.4(DLG3):c.126dup (p.Gly43fs)
|
rs2086554538
|
|
NM_021120.4(DLG3):c.631C>T (p.Arg211Ter)
|
rs1213060424
|
|
NM_021228.3(SCAF1):c.1166C>G (p.Ser389Trp)
|
rs867079547
|
|
NM_021625.5(TRPV4):c.617G>A (p.Arg206His)
|
rs373108373
|
|
NM_021628.3(ALOXE3):c.1954C>T (p.Gln652Ter)
|
rs1163280866
|
|
NM_022095.4(ZNF335):c.2168TCT[1] (p.Phe724del)
|
rs773283542
|
|
NM_022124.6(CDH23):c.10036G>C (p.Glu3346Gln)
|
rs562525508
|
|
NM_022356.4(P3H1):c.1426G>A (p.Gly476Ser)
|
rs761570342
|
|
NM_022552.5(DNMT3A):c.1913C>G (p.Ser638Cys)
|
rs1253868717
|
|
NM_022552.5(DNMT3A):c.998A>T (p.Asp333Val)
|
rs1674968007
|
|
NM_024011.4(CDK11A):c.1927del (p.Ser643fs)
|
|
|
NM_024103.3(SLC25A23):c.757G>A (p.Ala253Thr)
|
rs546358775
|
|
NM_024120.5(NDUFAF5):c.92C>T (p.Ser31Phe)
|
rs375461797
|
|
NM_024652.6(LRRK1):c.5870+1G>C
|
rs1596362892
|
|
NM_024665.7(TBL1XR1):c.58+2T>C
|
rs2108539830
|
|
NM_024665.7(TBL1XR1):c.941_943del (p.Val314del)
|
rs1553810271
|
|
NM_024665.7(TBL1XR1):c.943_945del (p.Asp315del)
|
rs1553810269
|
|
NM_024675.4(PALB2):c.2368C>T (p.Gln790Ter)
|
rs886039480
|
|
NM_024675.4(PALB2):c.757_758del (p.Leu253fs)
|
rs180177092
|
|
NM_024870.4(PREX2):c.357T>A (p.Tyr119Ter)
|
rs1807584458
|
|
NM_025009.5(CEP135):c.3164A>G (p.Asp1055Gly)
|
|
|
NM_025114.4(CEP290):c.1219_1220del (p.Met407fs)
|
rs386834148
|
|
NM_025136.4(OPA3):c.55G>A (p.Val19Ile)
|
rs1343690502
|
|
NM_025137.4(SPG11):c.4253T>A (p.Met1418Lys)
|
rs1370792770
|
|
NM_025137.4(SPG11):c.6586-7T>C
|
rs1057524222
|
|
NM_030632.3(ASXL3):c.1978_1981del (p.Asp660fs)
|
rs1555742500
|
|
NM_030632.3(ASXL3):c.2074G>C (p.Ala692Pro)
|
rs1212866279
|
|
NM_030632.3(ASXL3):c.3464C>A (p.Ser1155Ter)
|
rs377619533
|
|
NM_030653.4(DDX11):c.1888del (p.Arg630fs)
|
rs766936952
|
|
NM_030662.4(MAP2K2):c.619G>A (p.Glu207Lys)
|
rs727504382
|
|
NM_031407.7(HUWE1):c.6976G>T (p.Asp2326Tyr)
|
rs1569448303
|
|
NM_031407.7(HUWE1):c.9209G>A (p.Arg3070His)
|
rs2061745581
|
|
NM_031475.3(ESPN):c.1797_1808del (p.Pro602_Pro605del)
|
rs548962140
|
|
NM_031844.3(HNRNPU):c.353C>A (p.Ser118Ter)
|
rs1057524584
|
|
NM_032119.4(ADGRV1):c.13088A>G (p.Tyr4363Cys)
|
rs1040207686
|
|
NM_032271.3(TRAF7):c.1570C>T (p.Arg524Trp)
|
rs2093132159
|
|
NM_032408.4(BAZ1B):c.3071+1G>T
|
rs1554571044
|
|
NM_032444.4(SLX4):c.2944G>T (p.Asp982Tyr)
|
rs753733757
|
|
NM_032531.4(KIRREL3):c.1238C>T (p.Thr413Ile)
|
rs1565456303
|
|
NM_032578.4(MYPN):c.746A>T (p.Asp249Val)
|
rs2042254891
|
|
NM_032620.4(GTPBP3):c.424G>A (p.Glu142Lys)
|
rs2074392366
|
|
NM_032634.4(PIGO):c.2026G>A (p.Ala676Thr)
|
rs1465665122
|
|
NM_032861.4(SERAC1):c.443G>T (p.Arg148Leu)
|
rs376922578
|
|
NM_033091.3(TRIM4):c.1372del (p.Trp458fs)
|
rs1254691563
|
|
NM_033132.5(ZIC5):c.11C>T (p.Pro4Leu)
|
rs201940459
|
|
NM_033380.3(COL4A5):c.1032+3_1032+6del
|
rs104886314
|
|
NM_033429.3(CALML4):c.454del (p.Asp152fs)
|
rs772664987
|
|
NM_033517.1(SHANK3):c.3424_3425del (p.Leu1142fs)
|
rs1555910143
|
|
NM_033656.4(BRWD1):c.3904C>T (p.His1302Tyr)
|
rs377313924
|
|
NM_052874.5(STX1B):c.736G>C (p.Ala246Pro)
|
rs1567376699
|
|
NM_052876.4(NACC1):c.892C>T (p.Arg298Trp)
|
rs1060505041
|
|
NM_053013.4(ENO3):c.240+13G>T
|
rs1555553596
|
|
NM_053025.4(MYLK):c.1968G>T (p.Trp656Cys)
|
rs138172035
|
|
NM_053025.4(MYLK):c.2125G>T (p.Val709Leu)
|
rs112537316
|
|
NM_058216.3(RAD51C):c.718A>T (p.Ile240Leu)
|
rs863224806
|
|
NM_078480.3(PUF60):c.478_479del (p.Met160fs)
|
rs1554643473
|
|
NM_078480.3(PUF60):c.503_509del (p.Lys168fs)
|
rs1563825893
|
|
NM_078629.4(MSL3):c.1359ACA[1] (p.Gln454del)
|
rs2053238758
|
|
NM_078629.4(MSL3):c.961C>T (p.Gln321Ter)
|
rs2053172723
|
|
NM_080632.3(UPF3B):c.674_677del (p.Arg225fs)
|
rs794727881
|
|
NM_080680.3(COL11A2):c.799-13C>T
|
rs876657443
|
|
NM_130468.4(CHST14):c.1033C>T (p.Arg345Trp)
|
rs372422727
|
|
NM_130811.4(SNAP25):c.142G>T (p.Val48Phe)
|
rs797044873
|
|
NM_130837.3(OPA1):c.1036G>C (p.Val346Leu)
|
rs1553876590
|
|
NM_130837.3(OPA1):c.2873_2876del
|
rs80356530
|
|
NM_130839.5(UBE3A):c.1244_1253dup (p.Gly419fs)
|
rs886041603
|
|
NM_133433.4(NIPBL):c.8270G>T (p.Arg2757Leu)
|
rs868294395
|
|
NM_133443.4(GPT2):c.1037+5G>C
|
|
|
NM_133443.4(GPT2):c.328C>T (p.Arg110Trp)
|
|
|
NM_133642.5(LARGE1):c.1903G>A (p.Ala635Thr)
|
rs150325234
|
|
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_138691.3(TMC1):c.1236del (p.Met413fs)
|
rs876657727
|
|
NM_138694.4(PKHD1):c.1328A>G (p.Lys443Arg)
|
rs1554217772
|
|
NM_138694.4(PKHD1):c.3761_3762delinsG (p.Ala1254fs)
|
rs398124484
|
|
NM_138927.4(SON):c.1359G>T (p.Leu453Phe)
|
rs2145818992
|
|
NM_138927.4(SON):c.2365del (p.Ser789fs)
|
rs1555898531
|
|
NM_139058.3(ARX):c.946G>T (p.Gly316Cys)
|
rs2048708756
|
|
NM_139276.3(STAT3):c.1250G>T (p.Arg417Ile)
|
rs2144767285
|
|
NM_139276.3(STAT3):c.1601-10dup
|
rs3830585
|
|
NM_144687.4(NLRP12):c.2468_2470delinsCTT (p.Leu823_Gly824delinsProCys)
|
rs2091916523
|
|
NM_144687.4(NLRP12):c.2469C>A (p.Leu823=)
|
rs12460528
|
|
NM_144736.5(NDUFAF7):c.1217C>T (p.Ala406Val)
|
|
|
NM_144997.7(FLCN):c.1389C>G (p.Tyr463Ter)
|
rs137852929
|
|
NM_144997.7(FLCN):c.296del (p.Asp99fs)
|
rs398124534
|
|
NM_144997.7(FLCN):c.584del (p.Gly195fs)
|
rs878855217
|
|
NM_145261.4(DNAJC19):c.63C>G (p.Tyr21Ter)
|
rs145786060
|
|
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_152564.5(VPS13B):c.3397C>T (p.Pro1133Ser)
|
rs781781537
|
|
NM_152743.4(BRAT1):c.638dup (p.Val214fs)
|
rs730880324
|
|
NM_153614.4(DNAJB13):c.173-1G>A
|
rs1565171522
|
|
NM_153816.6(SNX14):c.2557+1G>A
|
rs200277996
|
|
NM_170601.5(SIAE):c.966+3A>G
|
rs2134363681
|
|
NM_170675.5(MEIS2):c.992GAA[2] (p.Arg333del)
|
rs879255264
|
|
NM_170707.4(LMNA):c.1564T>C (p.Cys522Arg)
|
rs1572366516
|
|
NM_170707.4(LMNA):c.481G>A (p.Glu161Lys)
|
rs28933093
|
|
NM_170707.4(LMNA):c.607G>A (p.Glu203Lys)
|
rs61195471
|
|
NM_172070.4(UBR3):c.5023G>C (p.Glu1675Gln)
|
rs1574483194
|
|
NM_172107.4(KCNQ2):c.683A>G (p.His228Arg)
|
rs2081358611
|
|
NM_173660.5(DOK7):c.919G>C (p.Ala307Pro)
|
rs150415034
|
|
NM_174911.5(LRATD2):c.391_392dup (p.His132fs)
|
rs1554597029
|
|
NM_177559.3(CSNK2A1):c.239G>A (p.Arg80His)
|
rs1057518092
|
|
NM_178012.5(TUBB2B):c.32A>G (p.Gln11Arg)
|
rs2113820411
|
|
NM_178014.4(TUBB):c.1057G>A (p.Val353Ile)
|
rs587777356
|
|
NM_178014.4(TUBB):c.917G>C (p.Arg306Pro)
|
rs2127749740
|
|
NM_181335.3(ARHGAP8):c.*157_*164del
|
rs1601543290
|
|
NM_181675.4(PPP2R2B):c.328A>G (p.Thr110Ala)
|
rs1064796487
|
|
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_182641.4(BPTF):c.898_899del (p.Thr300fs)
|
rs2058572865
|
|
NM_182914.3(SYNE2):c.13693C>G (p.Gln4565Glu)
|
rs2153672399
|
|
NM_182916.3(TRNT1):c.811G>A (p.Ala271Thr)
|
rs1553555777
|
|
NM_182961.4(SYNE1):c.3930_3931dup (p.His1311fs)
|
rs1592773965
|
|
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_198253.3(TERT):c.544A>T (p.Thr182Ser)
|
rs878855305
|
|
NM_198834.3(ACACA):c.364G>A (p.Val122Ile)
|
rs2146612065
|
|
NM_198904.4(GABRG2):c.1029C>A (p.Phe343Leu)
|
rs796052511
|
|
NM_199242.3(UNC13D):c.888G>C (p.Pro296=)
|
rs7223416
|
|
NM_203446.3(SYNJ1):c.1183G>A (p.Ala395Thr)
|
rs746354059
|
|
NM_203447.4(DOCK8):c.2916C>T (p.Thr972=)
|
rs2297075
|
|
NM_203447.4(DOCK8):c.699T>C (p.Asn233=)
|
rs2039045
|
|
NM_206933.4(USH2A):c.14133+5G>T
|
rs2102661138
|
|
NM_206933.4(USH2A):c.4338_4339del (p.Cys1447fs)
|
rs111033367
|
|
NM_206933.4(USH2A):c.5614delinsTTAACTTGGCAT (p.Ala1872fs)
|
rs869312180
|
|
NM_207037.2(TCF12):c.1128G>A (p.Trp376Ter)
|
rs1555409014
|
|
NM_207037.2(TCF12):c.2006G>T (p.Cys669Phe)
|
rs1597901046
|
|
NM_213599.3(ANO5):c.1081G>C (p.Asp361His)
|
rs1554929295
|
|
NM_213599.3(ANO5):c.304_308del (p.Lys102fs)
|
rs776859202
|
|
NM_213599.3(ANO5):c.989dup (p.Leu330fs)
|
rs398124626
|
|
Single allele
|
|
|
m.12297T>C
|
rs121434464
|
|
m.1438A>G
|
rs2001030
|
|
m.4216T>C
|
rs1599988
|
|
m.5874T>C
|
rs118203891
|
|
m.9379G>A
|
rs267606615
|
|