|
NM_020436.5(SALL4):c.540T>C (p.Asn180=)
|
rs6013281
|
0.99661
|
|
NM_004525.3(LRP2):c.79+15A>G
|
rs1559013
|
0.98894
|
|
NM_000029.4(AGT):c.1116A>G (p.Leu372=)
|
rs7080
|
0.94659
|
|
NM_000207.3(INS):c.187+11T>C
|
rs5506
|
0.93263
|
|
NM_001918.5(DBT):c.1150A>G (p.Ser384Gly)
|
rs12021720
|
0.87100
|
|
NM_000379.4(XDH):c.3276+12A>G
|
rs1366813
|
0.75380
|
|
NM_000069.3(CACNA1S):c.1828-5T>C
|
rs1998721
|
0.71016
|
|
NM_001127222.2(CACNA1A):c.6657T>C (p.His2219=)
|
rs16051
|
0.67380
|
|
NM_000789.4(ACE):c.3387T>C (p.Phe1129=)
|
rs4362
|
0.51177
|
|
NM_002661.5(PLCG2):c.2236-14C>G
|
rs12446127
|
0.48966
|
|
NM_000277.3(PAH):c.441+47C>T
|
rs1718301
|
0.37849
|
|
NM_001171.6(ABCC6):c.1233T>C (p.Asn411=)
|
rs9930886
|
0.31672
|
|
NM_000548.5(TSC2):c.5161-10A>C
|
rs1800718
|
0.30182
|
|
NM_001441.3(FAAH):c.385C>A (p.Pro129Thr)
|
rs324420
|
0.26554
|
|
NM_001384140.1(PCDH15):c.1138G>A (p.Gly380Ser)
|
rs10825269
|
0.22813
|
|
NM_000685.5(AGTR1):c.*86A>C
|
rs5186
|
0.20976
|
|
NM_016335.6(PRODH):c.1278C>T (p.Asp426=)
|
rs16983466
|
0.20443
|
|
NM_000593.6(TAP1):c.997A>G (p.Ile333Val)
|
rs1057141
|
0.20047
|
|
NM_000112.4(SLC26A2):c.2065A>T (p.Thr689Ser)
|
rs3776070
|
0.19906
|
|
NM_000125.4(ESR1):c.1782G>A (p.Thr594=)
|
rs2228480
|
0.17850
|
|
NM_000421.5(KRT10):c.376G>A (p.Gly126Ser)
|
rs77919366
|
0.17640
|
|
NM_000593.6(TAP1):c.1910A>G (p.Asp637Gly)
|
rs1135216
|
0.17502
|
|
NM_000660.7(TGFB1):c.861-20C>T
|
rs8179181
|
0.17369
|
|
NM_001710.5(CFB):c.94C>T (p.Arg32Trp)
|
rs12614
|
0.17324
|
|
NM_003136.4(SRP54):c.1327+16_1327+32del
|
rs369856554
|
0.16649
|
|
NM_030773.4(TUBB1):c.920G>A (p.Arg307His)
|
rs6070697
|
0.16486
|
|
NM_001011551.3(C1GALT1C1):c.393T>A (p.Asp131Glu)
|
rs17261572
|
0.15825
|
|
NM_000030.3(AGXT):c.1020A>G (p.Ile340Met)
|
rs4426527
|
0.15412
|
|
NM_000088.4(COL1A1):c.104-441G>T
|
rs1800012
|
0.13897
|
|
NM_018006.5(TRMU):c.28G>T (p.Ala10Ser)
|
rs11090865
|
0.13476
|
|
NM_000104.4(CYP1B1):c.1358A>G (p.Asn453Ser)
|
rs1800440
|
0.11965
|
|
NM_000208.4(INSR):c.783C>T (p.Asp261=)
|
rs891087
|
0.11869
|
|
NM_001277115.2(DNAH11):c.5490G>A (p.Leu1830=)
|
rs55666134
|
0.11626
|
|
NM_003283.6(TNNT1):c.47-13C>T
|
rs11669534
|
0.11553
|
|
NM_001042432.2(CLN3):c.1211A>G (p.His404Arg)
|
rs77595156
|
0.11421
|
|
NM_001378373.1(MBL2):c.161G>A (p.Gly54Asp)
|
rs1800450
|
0.11335
|
|
NM_198578.4(LRRK2):c.7155A>G (p.Gly2385=)
|
rs33962975
|
0.11278
|
|
NM_139281.3(WDR36):c.1717-20T>A
|
rs59359951
|
0.10369
|
|
NM_000251.3(MSH2):c.1511-9A>T
|
rs12998837
|
0.09123
|
|
NM_002386.4(MC1R):c.178G>T (p.Val60Leu)
|
rs1805005
|
0.08197
|
|
NM_001024630.4(RUNX2):c.423+39G>C
|
rs3749864
|
0.08101
|
|
NM_001127222.2(CACNA1A):c.3310G>A (p.Gly1104Ser)
|
rs16027
|
0.07737
|
|
NM_000091.5(COL4A3):c.1452G>A (p.Gly484=)
|
rs34019152
|
0.07474
|
|
NM_016362.5(GHRL):c.214C>A (p.Leu72Met)
|
rs696217
|
0.07013
|
|
NM_014000.3(VCL):c.768T>C (p.Asp256=)
|
rs56413529
|
0.06776
|
|
NM_014000.3(VCL):c.339G>A (p.Arg113=)
|
rs56314318
|
0.06767
|
|
NM_203486.3(DLL3):c.425T>A (p.Leu142Gln)
|
rs55741253
|
0.06752
|
|
NM_022437.3(ABCG8):c.55G>C (p.Asp19His)
|
rs11887534
|
0.06566
|
|
NM_001370466.1(NOD2):c.2782G>A (p.Val928Ile)
|
rs5743291
|
0.06122
|
|
NM_020533.3(MCOLN1):c.966A>C (p.Arg322=)
|
rs61736600
|
0.06042
|
|
NM_000031.6(ALAD):c.177G>C (p.Lys59Asn)
|
rs1800435
|
0.05916
|
|
NM_018979.4(WNK1):c.759+15A>C
|
rs11064518
|
0.05581
|
|
NM_003172.4(SURF1):c.573C>G (p.Thr191=)
|
rs28715079
|
0.05492
|
|
NM_000371.4(TTR):c.76G>A (p.Gly26Ser)
|
rs1800458
|
0.05309
|
|
NM_004562.3(PRKN):c.500G>A (p.Ser167Asn)
|
rs1801474
|
0.05277
|
|
NM_014000.3(VCL):c.*1853A>C
|
rs554923257
|
0.04999
|
|
NM_197947.3(CLEC7A):c.714T>G (p.Tyr238Ter)
|
rs16910526
|
0.04986
|
|
NM_206933.4(USH2A):c.1931A>T (p.Asp644Val)
|
rs1805048
|
0.04940
|
|
NM_018429.3(BDP1):c.2373-15C>T
|
rs66954493
|
0.04829
|
|
NM_003690.5(PRKRA):c.549T>C (p.Asn183=)
|
rs61746229
|
0.04819
|
|
NM_012203.2(GRHPR):c.734+9G>A
|
rs56401536
|
0.04769
|
|
NM_016617.4(UFM1):c.118-20T>A
|
rs545735907
|
0.04575
|
|
NM_006267.5(RANBP2):c.6609G>A (p.Ala2203=)
|
rs60199637
|
0.04502
|
|
NM_031892.3(SH3KBP1):c.1266G>A (p.Pro422=)
|
rs2290805
|
0.04501
|
|
NM_021828.5(HPSE2):c.957-28_957-19dup
|
rs113633161
|
0.04498
|
|
NM_004615.4(TSPAN7):c.237T>C (p.Ala79=)
|
rs7049247
|
0.04476
|
|
NM_000441.2(SLC26A4):c.1826T>G (p.Val609Gly)
|
rs17154335
|
0.04399
|
|
NM_001110556.2(FLNA):c.3035C>T (p.Ser1012Leu)
|
rs17091204
|
0.04081
|
|
NM_003227.4(TFR2):c.714C>G (p.Ile238Met)
|
rs34242818
|
0.03989
|
|
NM_001377265.1(MAPT):c.914A>G (p.Gln305Arg)
|
rs63750072
|
0.03830
|
|
NM_001846.4(COL4A2):c.549+15G>C
|
rs74124318
|
0.03560
|
|
NM_033337.3(CAV3):c.166G>A (p.Gly56Ser)
|
rs72546667
|
0.03558
|
|
NM_001388492.1(HTT):c.7765+10G>A
|
rs79218467
|
0.03400
|
|
NM_000168.6(GLI3):c.-42-11G>C
|
rs80019165
|
0.03314
|
|
NM_000155.4(GALT):c.945T>C (p.His315=)
|
rs61735982
|
0.03311
|
|
NM_000063.6(C2):c.954G>C (p.Glu318Asp)
|
rs9332739
|
0.03307
|
|
NM_001320198.2(KRT86):c.684T>C (p.Asn228=)
|
rs200750977
|
0.03259
|
|
NM_000093.5(COL5A1):c.1588G>A (p.Gly530Ser)
|
rs61735045
|
0.03116
|
|
NM_198578.4(LRRK2):c.4624C>T (p.Pro1542Ser)
|
rs33958906
|
0.03091
|
|
NM_015102.5(NPHP4):c.2724G>A (p.Ser908=)
|
rs114545322
|
0.03032
|
|
NM_000489.6(ATRX):c.228G>A (p.Ser76=)
|
rs5959371
|
0.03016
|
|
NM_001846.4(COL4A2):c.594C>T (p.Pro198=)
|
rs74124319
|
0.02997
|
|
NM_018127.7(ELAC2):c.1621G>A (p.Ala541Thr)
|
rs5030739
|
0.02886
|
|
NM_017565.4(FAM20A):c.640+11T>C
|
rs8071830
|
0.02884
|
|
NM_012213.3(MLYCD):c.850A>G (p.Thr284Ala)
|
rs62640903
|
0.02854
|
|
NM_016030.6(TRAPPC12):c.1417+16T>C
|
rs112370205
|
0.02827
|
|
NM_018122.5(DARS2):c.663+8T>C
|
rs73037062
|
0.02691
|
|
NM_213595.4(ISCU):c.419-162C>T
|
rs73404738
|
0.02683
|
|
NM_024496.4(IRF2BPL):c.336_346del (p.Gln113fs)
|
rs776735350
|
0.02660
|
|
NM_001252024.2(TRPM1):c.234T>C (p.Tyr78=)
|
rs74010762
|
0.02659
|
|
NM_018451.5(CENPJ):c.163C>G (p.Pro55Ala)
|
rs17081389
|
0.02639
|
|
NM_032387.5(WNK4):c.1477-13A>G
|
rs61754357
|
0.02638
|
|
NM_004370.6(COL12A1):c.4001-10G>A
|
rs73749974
|
0.02617
|
|
NM_000503.6(EYA1):c.1597+18T>C
|
rs76259565
|
0.02609
|
|
NM_004562.3(PRKN):c.1180G>A (p.Asp394Asn)
|
rs1801334
|
0.02570
|
|
NM_001848.3(COL6A1):c.1273-8C>T
|
rs7280215
|
0.02565
|
|
NM_030957.4(ADAMTS10):c.1588-7C>G
|
rs11882422
|
0.02550
|
|
NM_024675.4(PALB2):c.3300T>G (p.Thr1100=)
|
rs45516100
|
0.02529
|
|
NM_001004334.4(GPR179):c.2040C>T (p.Asp680=)
|
rs111770829
|
0.02523
|
|
NM_001170535.3(ATAD3A):c.1267-8C>G
|
rs186268381
|
0.02490
|
|
NM_005554.4(KRT6A):c.1203+13A>G
|
rs56654203
|
0.02469
|
|
NM_001083619.3(GRIA2):c.2044-19C>T
|
rs114192841
|
0.02466
|
|
NM_004370.6(COL12A1):c.626A>C (p.Lys209Thr)
|
rs75535959
|
0.02433
|
|
NM_182641.4(BPTF):c.36C>G (p.Pro12=)
|
rs868242186
|
0.02432
|
|
NM_001021.6(RPS17):c.312A>G (p.Glu104=)
|
rs1049218128
|
0.02409
|
|
NM_001080413.3(NOBOX):c.349C>T (p.Arg117Trp)
|
rs7800847
|
0.02403
|
|
NM_206933.4(USH2A):c.15377T>C (p.Ile5126Thr)
|
rs111033266
|
0.02380
|
|
NM_032119.4(ADGRV1):c.327C>T (p.Asp109=)
|
rs61753944
|
0.02377
|
|
NM_015662.3(IFT172):c.337-12C>T
|
rs79529534
|
0.02365
|
|
NM_032119.4(ADGRV1):c.8876G>A (p.Arg2959Gln)
|
rs73175207
|
0.02358
|
|
NM_173076.3(ABCA12):c.7093G>A (p.Asp2365Asn)
|
rs726070
|
0.02339
|
|
NM_021625.5(TRPV4):c.854-5C>T
|
rs116401333
|
0.02337
|
|
NM_001211.6(BUB1B):c.119C>T (p.Thr40Met)
|
rs56079734
|
0.02335
|
|
NM_001378964.1(CDON):c.1851+14G>A
|
rs113328989
|
0.02329
|
|
NM_000251.3(MSH2):c.380A>G (p.Asn127Ser)
|
rs17217772
|
0.02317
|
|
NM_022124.6(CDH23):c.429+18T>C
|
rs141451003
|
0.02288
|
|
NM_001012750.3(ABI1):c.*1940A>C
|
rs1046187
|
0.02265
|
|
NM_000969.5(RPL5):c.165G>A (p.Val55=)
|
rs58263806
|
0.02253
|
|
NM_000891.3(KCNJ2):c.-163_-162insTC
|
rs61077847
|
0.02248
|
|
NM_001267550.2(TTN):c.26991A>G (p.Thr8997=)
|
rs61232800
|
0.02248
|
|
NM_000891.3(KCNJ2):c.-162_-161insGAGTAGT
|
rs58144126
|
0.02246
|
|
NM_003126.4(SPTA1):c.2418G>A (p.Glu806=)
|
rs35318623
|
0.02245
|
|
NM_001025389.2(AMPD3):c.1363T>C (p.Tyr455His)
|
rs36003153
|
0.02243
|
|
NM_003126.4(SPTA1):c.3693C>T (p.Asp1231=)
|
rs34773716
|
0.02215
|
|
NM_000426.4(LAMA2):c.8528A>G (p.Asn2843Ser)
|
rs73599293
|
0.02196
|
|
NM_004698.4(PRPF3):c.1760-12C>T
|
rs116427288
|
0.02182
|
|
NM_024675.4(PALB2):c.2014G>C (p.Glu672Gln)
|
rs45532440
|
0.02171
|
|
NM_001846.4(COL4A2):c.315+14G>T
|
rs78713113
|
0.02155
|
|
NM_000096.4(CP):c.1652C>T (p.Thr551Ile)
|
rs61733458
|
0.02154
|
|
NM_000448.3(RAG1):c.906C>A (p.Asp302Glu)
|
rs4151030
|
0.02153
|
|
NM_018451.5(CENPJ):c.187G>C (p.Asp63His)
|
rs7336216
|
0.02151
|
|
NM_015028.4(TNIK):c.3012C>T (p.Ser1004=)
|
rs61736291
|
0.02140
|
|
NM_002473.6(MYH9):c.1108+19C>T
|
rs78323081
|
0.02129
|
|
NM_018896.5(CACNA1G):c.1479C>T (p.His493=)
|
rs9897406
|
0.02109
|
|
NM_173630.4(RTTN):c.220-12T>C
|
rs11873759
|
0.02102
|
|
NM_004006.3(DMD):c.5016T>A (p.Asn1672Lys)
|
rs16990264
|
0.02084
|
|
NM_133259.4(LRPPRC):c.1888C>T (p.Leu630=)
|
rs35881858
|
0.02080
|
|
NM_018116.4(MSTO1):c.1426C>T (p.Pro476Ser)
|
rs144717081
|
0.02062
|
|
NM_032608.7(MYO18B):c.507G>A (p.Lys169=)
|
rs56195244
|
0.02058
|
|
NM_005557.4(KRT16):c.67G>A (p.Gly23Ser)
|
rs7226192
|
0.02054
|
|
NM_002890.3(RASA1):c.296C>T (p.Ala99Val)
|
rs111840875
|
0.02050
|
|
NM_001199107.2(TBC1D24):c.1143-6C>T
|
rs73490287
|
0.02047
|
|
NM_032119.4(ADGRV1):c.581C>A (p.Pro194His)
|
rs61745498
|
0.02028
|
|
NM_000497.4(CYP11B1):c.1098T>G (p.Arg366=)
|
rs61752769
|
0.02016
|
|
NM_017775.4(TTC19):c.*226T>C
|
rs73981412
|
0.01995
|
|
NM_020347.4(LZTFL1):c.376A>C (p.Asn126His)
|
rs9917821
|
0.01995
|
|
NM_001037333.3(CYFIP2):c.3153C>T (p.Ala1051=)
|
rs73307968
|
0.01994
|
|
NM_206933.4(USH2A):c.6713A>C (p.Glu2238Ala)
|
rs41277212
|
0.01991
|
|
NM_017755.6(NSUN2):c.1602-17_1602-15del
|
rs139131959
|
0.01987
|
|
NM_053013.3(ENO3):c.-88G>A
|
rs73343373
|
0.01987
|
|
NM_001394090.1(CFAP92):c.3281-2342G>A
|
rs116106966
|
0.01973
|
|
NM_000552.5(VWF):c.3379+13G>A
|
rs2885752
|
0.01966
|
|
NM_000540.3(RYR1):c.13503G>A (p.Pro4501=)
|
rs2960319
|
0.01964
|
|
NM_018419.3(SOX18):c.243C>T (p.Asp81=)
|
rs144785707
|
0.01962
|
|
NM_001069.3(TUBB2A):c.167-19C>T
|
rs115862064
|
0.01959
|
|
NM_030667.3(PTPRO):c.508+19G>A
|
rs138770041
|
0.01959
|
|
NM_001374736.1(DST):c.15584G>A (p.Cys5195Tyr)
|
rs57472891
|
0.01957
|
|
NM_000391.4(TPP1):c.1266+5G>A
|
rs1800753
|
0.01932
|
|
NM_212482.4(FN1):c.1101T>C (p.Asn367=)
|
rs114523318
|
0.01928
|
|
NM_030667.3(PTPRO):c.1110C>G (p.Asn370Lys)
|
rs61754411
|
0.01921
|
|
NM_017780.4(CHD7):c.2124T>C (p.Ser708=)
|
rs79302359
|
0.01911
|
|
NM_018341.3(ERMARD):c.1060-12A>G
|
rs111551747
|
0.01905
|
|
NM_001849.4(COL6A2):c.2160C>G (p.Arg720=)
|
rs61735829
|
0.01898
|
|
NM_014425.5(INVS):c.616-19T>C
|
rs78038572
|
0.01891
|
|
NM_001374736.1(DST):c.17923-10A>G
|
rs116504133
|
0.01889
|
|
NM_174916.3(UBR1):c.2695A>G (p.Ile899Val)
|
rs35069201
|
0.01889
|
|
NM_003119.4(SPG7):c.1664-15C>A
|
rs80292600
|
0.01888
|
|
NM_001038.6(SCNN1A):c.540G>T (p.Leu180=)
|
rs55859427
|
0.01886
|
|
NM_003998.4(NFKB1):c.1519A>G (p.Met507Val)
|
rs4648072
|
0.01884
|
|
NM_001366686.3(SIK3):c.3292G>A (p.Ala1098Thr)
|
rs56247967
|
0.01883
|
|
NM_001378969.1(KCND3):c.669G>C (p.Ser223=)
|
rs17215423
|
0.01872
|
|
NM_001291303.3(FAT4):c.14361C>T (p.Val4787=)
|
rs1014865
|
0.01862
|
|
NM_000379.4(XDH):c.3084C>T (p.Gly1028=)
|
rs45604135
|
0.01858
|
|
NM_000342.4(SLC4A1):c.2712C>T (p.Tyr904=)
|
rs45519733
|
0.01857
|
|
NM_014908.4(DOLK):c.-49A>G
|
rs116439010
|
0.01852
|
|
NM_001851.6(COL9A1):c.2470C>A (p.Pro824Thr)
|
rs34119578
|
0.01848
|
|
NM_182641.4(BPTF):c.5385T>C (p.Asp1795=)
|
rs80201495
|
0.01848
|
|
NM_001171.6(ABCC6):c.662+12C>T
|
rs1555520951
|
0.01842
|
|
NM_182641.4(BPTF):c.5694G>A (p.Arg1898=)
|
rs59088743
|
0.01840
|
|
NM_019594.4(LRRC8A):c.1458C>T (p.Pro486=)
|
rs11999276
|
0.01838
|
|
NM_005045.4(RELN):c.6672-16C>T
|
rs79610318
|
0.01836
|
|
NM_024928.5(STN1):c.582-4G>A
|
rs7097097
|
0.01832
|
|
NM_153240.5(NPHP3):c.864T>A (p.Thr288=)
|
rs147932449
|
0.01825
|
|
NM_004369.4(COL6A3):c.3071-16G>A
|
rs73998896
|
0.01822
|
|
NM_001384732.1(CPLANE1):c.5512A>G (p.Thr1838Ala)
|
rs76245173
|
0.01809
|
|
NM_000182.5(HADHA):c.1620+11G>C
|
rs112236946
|
0.01807
|
|
NM_001142864.4(PIEZO1):c.3129C>T (p.Leu1043=)
|
rs61742732
|
0.01802
|
|
NM_004380.3(CREBBP):c.7212A>G (p.Glu2404=)
|
rs55916120
|
0.01802
|
|
NM_001127222.2(CACNA1A):c.3989+16A>G
|
rs149764550
|
0.01798
|
|
NM_002591.4(PCK1):c.611-16G>A
|
rs75308972
|
0.01788
|
|
NM_012310.5(KIF4A):c.2059C>T (p.Leu687=)
|
rs10127080
|
0.01787
|
|
NM_018417.6(ADCY10):c.3696C>T (p.His1232=)
|
rs61738852
|
0.01786
|
|
NM_001109878.2(TBX22):c.949+12T>G
|
rs151121450
|
0.01780
|
|
NM_001024613.4(FEZF1):c.801+10A>T
|
rs62476008
|
0.01777
|
|
NM_001080467.3(MYO5B):c.28T>G (p.Cys10Gly)
|
rs16951438
|
0.01776
|
|
NM_001457.4(FLNB):c.292+8C>A
|
rs9831243
|
0.01775
|
|
NM_014141.6(CNTNAP2):c.318C>T (p.Ser106=)
|
rs61732853
|
0.01773
|
|
NM_013247.5(HTRA2):c.480C>G (p.Ala160=)
|
rs2231248
|
0.01771
|
|
NM_007357.3(COG2):c.1765G>A (p.Val589Ile)
|
rs34109129
|
0.01764
|
|
NM_018368.4(LMBRD1):c.980+11T>C
|
rs114726590
|
0.01756
|
|
NM_002299.4(LCT):c.2714A>G (p.Asp905Gly)
|
rs115690016
|
0.01755
|
|
NM_000142.5(FGFR3):c.348C>T (p.Arg116=)
|
rs2305179
|
0.01752
|
|
NM_022098.4(XPNPEP3):c.111A>G (p.Pro37=)
|
rs1894658
|
0.01750
|
|
NR_001566.1(TERC):n.58G>A
|
rs113487931
|
0.01733
|
|
NM_001100913.3(PACS2):c.489C>T (p.Pro163=)
|
rs112555824
|
0.01726
|
|
NM_000208.4(INSR):c.653-7del
|
rs766817873
|
0.01724
|
|
NM_024675.4(PALB2):c.2993G>A (p.Gly998Glu)
|
rs45551636
|
0.01717
|
|
NM_001171.6(ABCC6):c.3190C>T (p.Arg1064Trp)
|
rs41278174
|
0.01708
|
|
NM_006070.6(TFG):c.416-9T>C
|
rs115896544
|
0.01708
|
|
NM_004183.4(BEST1):c.619C>A (p.Leu207Ile)
|
rs74653691
|
0.01704
|
|
NM_005589.4(ALDH6A1):c.349-13G>A
|
rs45510700
|
0.01704
|
|
NM_001429.4(EP300):c.2499G>A (p.Ser833=)
|
rs35560602
|
0.01700
|
|
NM_002074.5(GNB1):c.462C>T (p.Asp154=)
|
rs77027087
|
0.01689
|
|
NM_001256071.3(RNF213):c.13590G>A (p.Ala4530=)
|
rs61739536
|
0.01687
|
|
NM_182961.4(SYNE1):c.20571A>T (p.Ser6857=)
|
rs34905593
|
0.01683
|
|
NM_001134831.2(AHI1):c.3015A>G (p.Ser1005=)
|
rs41287054
|
0.01682
|
|
NM_198578.4(LRRK2):c.6844-14_6844-13insA
|
rs150964683
|
0.01681
|
|
NM_002520.7(NPM1):c.847-5T>C
|
rs191111314
|
0.01680
|
|
NM_003791.4(MBTPS1):c.738G>A (p.Gly246=)
|
rs16962810
|
0.01679
|
|
NM_004006.3(DMD):c.832-17C>A
|
rs72470514
|
0.01678
|
|
NM_025243.4(SLC19A3):c.42C>T (p.Tyr14=)
|
rs34080459
|
0.01664
|
|
NM_003124.5(SPR):c.-7C>G
|
rs184034436
|
0.01663
|
|
NM_017617.5(NOTCH1):c.3836G>A (p.Arg1279His)
|
rs61751543
|
0.01655
|
|
NM_000213.5(ITGB4):c.513T>C (p.Phe171=)
|
rs148048907
|
0.01650
|
|
NM_024996.7(GFM1):c.-11C>T
|
rs112860155
|
0.01649
|
|
NM_199242.3(UNC13D):c.1579C>T (p.Arg527Trp)
|
rs75366116
|
0.01644
|
|
NM_000784.4(CYP27A1):c.888A>G (p.Gln296=)
|
rs61733619
|
0.01643
|
|
NM_001376.5(DYNC1H1):c.3993C>T (p.Gly1331=)
|
rs17540957
|
0.01643
|
|
NM_182961.4(SYNE1):c.17418G>A (p.Thr5806=)
|
rs17082422
|
0.01643
|
|
NM_000112.4(SLC26A2):c.1474C>T (p.Arg492Trp)
|
rs78676079
|
0.01642
|
|
NM_015726.4(DCAF8):c.822G>A (p.Lys274=)
|
rs2275702
|
0.01641
|
|
NM_001378183.1(PIEZO2):c.6012C>T (p.Asp2004=)
|
rs16975235
|
0.01635
|
|
NM_001372.4(DNAH9):c.306T>C (p.Phe102=)
|
rs28507962
|
0.01633
|
|
NM_000492.4(CFTR):c.-887C>T
|
rs34465975
|
0.01630
|
|
NM_004006.3(DMD):c.5724T>C (p.Asp1908=)
|
rs143159113
|
0.01630
|
|
NM_007055.4(POLR3A):c.1724A>T (p.Lys575Met)
|
rs56214655
|
0.01630
|
|
NM_003466.4(PAX8):c.985T>C (p.Phe329Leu)
|
rs3188996
|
0.01628
|
|
NM_000092.5(COL4A4):c.2008G>A (p.Val670Ile)
|
rs34236495
|
0.01622
|
|
NM_031433.4(MFRP):c.355A>G (p.Ile119Val)
|
rs4639950
|
0.01611
|
|
NM_000158.4(GBE1):c.1716C>T (p.Asp572=)
|
rs2229520
|
0.01610
|
|
NM_024753.5(TTC21B):c.2334C>T (p.Tyr778=)
|
rs79656636
|
0.01606
|
|
NM_000782.5(CYP24A1):c.234T>G (p.Gly78=)
|
rs61755338
|
0.01605
|
|
NM_053013.4(ENO3):c.993C>T (p.Ala331=)
|
rs2230257
|
0.01604
|
|
NM_001001344.3(ATP2B3):c.407-6G>A
|
rs139607201
|
0.01600
|
|
NM_002160.4(TNC):c.6006G>A (p.Leu2002=)
|
rs61736828
|
0.01597
|
|
NM_001291303.3(FAT4):c.8592G>A (p.Val2864=)
|
rs111758803
|
0.01583
|
|
NM_001009944.3(PKD1):c.9669G>A (p.Thr3223=)
|
rs144817614
|
0.01582
|
|
NM_001354483.2(CSGALNACT1):c.1418T>A (p.Phe473Tyr)
|
rs17128366
|
0.01576
|
|
NM_001358530.2(MOCS1):c.1715G>A (p.Arg572His)
|
rs41273140
|
0.01571
|
|
NM_001377.3(DYNC2H1):c.10461A>G (p.Gln3487=)
|
rs75143468
|
0.01568
|
|
NM_000264.5(PTCH1):c.318C>T (p.Leu106=)
|
rs1805153
|
0.01567
|
|
NM_006846.4(SPINK5):c.2762A>G (p.Asn921Ser)
|
rs73271166
|
0.01566
|
|
NM_178012.5(TUBB2B):c.553G>A (p.Ala185Thr)
|
rs146544321
|
0.01565
|
|
NM_000334.4(SCN4A):c.968C>T (p.Thr323Met)
|
rs80338952
|
0.01562
|
|
NM_003126.4(SPTA1):c.2353C>A (p.Arg785=)
|
rs2022057
|
0.01562
|
|
NM_194248.3(OTOF):c.3751T>G (p.Cys1251Gly)
|
rs41288773
|
0.01560
|
|
NM_014112.5(TRPS1):c.1788T>C (p.Tyr596=)
|
rs34094363
|
0.01557
|
|
NM_001571.6(IRF3):c.432G>C (p.Leu144=)
|
rs74980832
|
0.01556
|
|
NM_182961.4(SYNE1):c.8336T>G (p.Ile2779Ser)
|
rs77121899
|
0.01555
|
|
NM_053025.4(MYLK):c.1516+16C>T
|
rs77590783
|
0.01553
|
|
NM_001256071.3(RNF213):c.10727-4A>G
|
rs116007874
|
0.01549
|
|
NM_001378454.1(ALMS1):c.5359A>G (p.Asn1787Asp)
|
rs45608038
|
0.01548
|
|
NM_024514.5(CYP2R1):c.1059C>T (p.Asp353=)
|
rs117913124
|
0.01543
|
|
NM_000051.4(ATM):c.1636C>G (p.Leu546Val)
|
rs2227924
|
0.01541
|
|
NM_018026.4(PACS1):c.957C>G (p.Thr319=)
|
rs76179533
|
0.01539
|
|
NM_002160.4(TNC):c.3353G>A (p.Arg1118Gln)
|
rs61738263
|
0.01534
|
|
NM_004168.4(SDHA):c.1664-8G>A
|
rs199790689
|
0.01533
|
|
NM_001035.3(RYR2):c.4198A>G (p.Ser1400Gly)
|
rs56229512
|
0.01531
|
|
NM_012448.4(STAT5B):c.993G>A (p.Thr331=)
|
rs59491077
|
0.01527
|
|
NM_001171.6(ABCC6):c.3507-3C>T
|
rs41278172
|
0.01517
|
|
NM_018136.5(ASPM):c.5821T>C (p.Cys1941Arg)
|
rs61249253
|
0.01514
|
|
NM_021098.3(CACNA1H):c.5897C>T (p.Ala1966Val)
|
rs72552054
|
0.01514
|
|
NM_144701.3(IL23R):c.491+17C>T
|
rs75363634
|
0.01509
|
|
NM_030787.4(CFHR5):c.507C>T (p.Asp169=)
|
rs34533956
|
0.01500
|
|
NM_001291303.3(FAT4):c.1101A>G (p.Val367=)
|
rs57692448
|
0.01498
|
|
NM_000180.4(GUCY2D):c.1724C>T (p.Pro575Leu)
|
rs28743021
|
0.01496
|
|
NM_032551.5(KISS1R):c.1155G>A (p.Ala385=)
|
rs3746147
|
0.01495
|
|
NM_000944.5(PPP3CA):c.1156+7G>T
|
rs79436394
|
0.01493
|
|
NM_020297.4(ABCC9):c.1848C>T (p.Asp616=)
|
rs61001398
|
0.01493
|
|
NM_000944.5(PPP3CA):c.1156+15C>G
|
rs74569968
|
0.01492
|
|
NM_015338.6(ASXL1):c.374-9C>T
|
rs6087903
|
0.01488
|
|
NM_001715.3(BLK):c.211G>A (p.Ala71Thr)
|
rs55758736
|
0.01485
|
|
NM_003590.5(CUL3):c.1581A>T (p.Ala527=)
|
rs41373148
|
0.01485
|
|
NM_018646.6(TRPV6):c.1092C>T (p.Tyr364=)
|
rs4987663
|
0.01482
|
|
NM_025074.7(FRAS1):c.1534+19A>G
|
rs6829493
|
0.01482
|
|
NM_001348484.3(RIMS2):c.2310-6T>C
|
rs73699005
|
0.01478
|
|
NM_020921.4(NIN):c.1728G>A (p.Pro576=)
|
rs61755036
|
0.01477
|
|
NM_001290043.2(TAP2):c.1120G>A (p.Ala374Thr)
|
rs111303994
|
0.01475
|
|
NM_080916.3(DGUOK):c.509A>G (p.Gln170Arg)
|
rs74874677
|
0.01472
|
|
NM_000136.3(FANCC):c.843+4C>T
|
rs4647506
|
0.01468
|
|
NM_002661.5(PLCG2):c.1558-18C>T
|
rs113312523
|
0.01465
|
|
NM_001378183.1(PIEZO2):c.3941C>T (p.Ser1314Phe)
|
rs9959296
|
0.01461
|
|
NM_017841.4(SDHAF2):c.36+10G>A
|
rs114207859
|
0.01460
|
|
NM_001204.7(BMPR2):c.600A>C (p.Leu200=)
|
rs55722784
|
0.01458
|
|
NM_002225.5(IVD):c.*2285C>G
|
rs114657778
|
0.01453
|
|
NM_022915.5(MRPL44):c.827+18C>T
|
rs58911111
|
0.01453
|
|
NM_030787.4(CFHR5):c.254-8T>G
|
rs114023763
|
0.01451
|
|
NM_001100913.3(PACS2):c.366G>A (p.Lys122=)
|
rs61738367
|
0.01450
|
|
NM_018139.3(DNAAF2):c.707C>T (p.Pro236Leu)
|
rs74050429
|
0.01450
|
|
NM_198334.3(GANAB):c.714G>A (p.Pro238=)
|
rs139305180
|
0.01448
|
|
NM_030787.4(CFHR5):c.330A>C (p.Val110=)
|
rs61745675
|
0.01447
|
|
NM_000465.4(BARD1):c.1670G>C (p.Cys557Ser)
|
rs28997576
|
0.01443
|
|
NM_017565.4(FAM20A):c.928+16G>A
|
rs16973042
|
0.01441
|
|
NM_014967.5(FAN1):c.1851C>T (p.Ser617=)
|
rs118060760
|
0.01439
|
|
NM_016343.4(CENPF):c.9081C>T (p.Leu3027=)
|
rs74557452
|
0.01439
|
|
NM_006231.4(POLE):c.2550C>T (p.Ile850=)
|
rs5744834
|
0.01438
|
|
NM_015355.4(SUZ12):c.274+8T>C
|
rs201453847
|
0.01436
|
|
NM_201384.3(PLEC):c.8012G>A (p.Arg2671Gln)
|
rs28526657
|
0.01433
|
|
NM_001124758.3(SPNS2):c.1018C>T (p.Leu340=)
|
rs61746307
|
0.01432
|
|
NM_000186.4(CFH):c.2236+8T>A
|
rs7537967
|
0.01429
|
|
NM_001012759.3(CTU2):c.282+18C>T
|
rs147078272
|
0.01418
|
|
NM_198241.3(EIF4G1):c.4251C>T (p.Val1417=)
|
rs76779558
|
0.01418
|
|
NM_031885.5(BBS2):c.1413A>C (p.Val471=)
|
rs35294865
|
0.01415
|
|
NM_004523.4(KIF11):c.3126G>C (p.Leu1042Phe)
|
rs34417963
|
0.01412
|
|
NM_001278064.2(GRM1):c.2651G>A (p.Gly884Glu)
|
rs362936
|
0.01411
|
|
NM_000138.5(FBN1):c.3082+6A>G
|
rs79321504
|
0.01406
|
|
NM_006231.4(POLE):c.5678+4C>T
|
rs5744973
|
0.01405
|
|
NM_006231.4(POLE):c.6330+18C>T
|
rs5745024
|
0.01405
|
|
NM_152703.5(SAMD9L):c.3102T>C (p.Asp1034=)
|
rs75823828
|
0.01398
|
|
NM_000051.4(ATM):c.2614C>T (p.Pro872Ser)
|
rs3218673
|
0.01393
|
|
NM_024824.5(ZC3H14):c.432-3T>C
|
rs77755006
|
0.01392
|
|
NM_014846.4(WASHC5):c.3225A>G (p.Pro1075=)
|
rs34569226
|
0.01390
|
|
NM_001003841.3(SLC6A19):c.966C>T (p.Tyr322=)
|
rs115133359
|
0.01389
|
|
NM_201384.3(PLEC):c.4557G>A (p.Ser1519=)
|
rs79705634
|
0.01389
|
|
NM_002742.3(PRKD1):c.265-5T>C
|
rs45442100
|
0.01388
|
|
NM_018359.5(UFSP2):c.932G>C (p.Cys311Ser)
|
rs75415917
|
0.01385
|
|
NM_024596.5(MCPH1):c.1719C>T (p.Ser573=)
|
rs35551093
|
0.01384
|
|
NM_006412.4(AGPAT2):c.345C>T (p.Cys115=)
|
rs73668354
|
0.01383
|
|
NM_031471.6(FERMT3):c.1320G>A (p.Gln440=)
|
rs76744324
|
0.01379
|
|
NM_201384.3(PLEC):c.6577C>T (p.Leu2193=)
|
rs28610521
|
0.01376
|
|
NM_002857.4(PEX19):c.879T>C (p.Gly293=)
|
rs74125561
|
0.01375
|
|
NM_001082971.2(DDC):c.629C>T (p.Pro210Leu)
|
rs6262
|
0.01372
|
|
NM_004304.5(ALK):c.952+16C>T
|
rs112736234
|
0.01371
|
|
NM_004655.4(AXIN2):c.1383C>T (p.Ser461=)
|
rs9914661
|
0.01367
|
|
NM_001844.5(COL2A1):c.1266+7G>A
|
rs41317915
|
0.01359
|
|
NM_017780.4(CHD7):c.307T>A (p.Ser103Thr)
|
rs41272435
|
0.01358
|
|
NM_019109.5(ALG1):c.554T>G (p.Phe185Cys)
|
rs112668461
|
0.01358
|
|
NM_001199563.2(BVES):c.708A>C (p.Thr236=)
|
rs61995860
|
0.01354
|
|
NM_003355.3(UCP2):c.750C>T (p.Tyr250=)
|
rs45526034
|
0.01354
|
|
NM_020751.3(COG6):c.898C>T (p.His300Tyr)
|
rs34555836
|
0.01351
|
|
NM_005876.5(SPEG):c.6692C>A (p.Pro2231His)
|
rs183551699
|
0.01350
|
|
NM_007294.4(BRCA1):c.4956G>A (p.Met1652Ile)
|
rs1799967
|
0.01348
|
|
NM_016474.5(CCDC174):c.1044C>A (p.Val348=)
|
rs17040078
|
0.01348
|
|
NM_001079866.2(BCS1L):c.1007+16G>A
|
rs115594405
|
0.01345
|
|
NM_001440.4(EXTL3):c.1324G>C (p.Val442Leu)
|
rs116659770
|
0.01342
|
|
NM_015386.3(COG4):c.845-18T>C
|
rs116746214
|
0.01342
|
|
NM_139125.4(MASP1):c.1386G>A (p.Pro462=)
|
rs35384947
|
0.01342
|
|
NM_005076.5(CNTN2):c.391+12G>A
|
rs16855012
|
0.01337
|
|
NM_182914.3(SYNE2):c.8597C>T (p.Thr2866Met)
|
rs114508894
|
0.01330
|
|
NM_014003.4(DHX38):c.1386+17C>T
|
rs117948289
|
0.01329
|
|
NM_017617.5(NOTCH1):c.2468-19G>A
|
rs116515776
|
0.01328
|
|
NM_001171.6(ABCC6):c.474+13G>A
|
rs111339199
|
0.01326
|
|
NM_001134831.2(AHI1):c.1152-11T>G
|
rs113317693
|
0.01324
|
|
NM_001303256.3(MORC2):c.699-20T>C
|
rs78973434
|
0.01322
|
|
NM_014324.6(AMACR):c.782T>C (p.Met261Thr)
|
rs3195678
|
0.01320
|
|
NM_001370466.1(NOD2):c.2093C>G (p.Ala698Gly)
|
rs5743278
|
0.01319
|
|
NM_001166114.2(PNPLA6):c.181G>C (p.Val61Leu)
|
rs112732576
|
0.01318
|
|
NM_030665.4(RAI1):c.1894C>T (p.Leu632=)
|
rs61736754
|
0.01318
|
|
NM_020312.4(COQ9):c.921+13C>T
|
rs115677652
|
0.01317
|
|
NM_001369.3(DNAH5):c.5658C>T (p.Tyr1886=)
|
rs6880264
|
0.01314
|
|
NM_003000.3(SDHB):c.8C>G (p.Ala3Gly)
|
rs11203289
|
0.01309
|
|
NM_020320.5(RARS2):c.63A>G (p.Pro21=)
|
rs7748563
|
0.01309
|
|
NM_198578.4(LRRK2):c.5509+20A>C
|
rs11564134
|
0.01309
|
|
NM_015465.5(GEMIN5):c.4176A>G (p.Gln1392=)
|
rs35194608
|
0.01307
|
|
NM_020921.4(NIN):c.4866A>C (p.Glu1622Asp)
|
rs77959782
|
0.01304
|
|
NM_001142864.4(PIEZO1):c.132C>T (p.Phe44=)
|
rs112488313
|
0.01303
|
|
NM_012448.4(STAT5B):c.2237+15T>C
|
rs113762956
|
0.01303
|
|
NM_182961.4(SYNE1):c.10207G>A (p.Gly3403Ser)
|
rs116758271
|
0.01300
|
|
NM_000548.5(TSC2):c.3883+8C>G
|
rs45517316
|
0.01297
|
|
NM_005996.4(TBX3):c.2082A>G (p.Lys694=)
|
rs34831817
|
0.01295
|
|
NM_003072.5(SMARCA4):c.1419+8C>T
|
rs115492175
|
0.01292
|
|
NM_004752.4(GCM2):c.1060A>G (p.Met354Val)
|
rs61734278
|
0.01292
|
|
NM_002334.4(LRP4):c.431-12G>A
|
rs139371503
|
0.01289
|
|
NM_024312.5(GNPTAB):c.1042A>C (p.Ile348Leu)
|
rs7958709
|
0.01289
|
|
NM_001370595.2(COA8):c.351A>G (p.Leu117=)
|
rs71417867
|
0.01287
|
|
NM_001031689.3(PLAA):c.957C>T (p.His319=)
|
rs112768524
|
0.01286
|
|
NM_002458.3(MUC5B):c.3834C>T (p.Thr1278=)
|
rs55913363
|
0.01285
|
|
NM_001128431.4(SLC39A14):c.939+8G>C
|
rs137890800
|
0.01283
|
|
NM_001940.4(ATN1):c.1467G>A (p.Gln489=)
|
rs782253884
|
0.01283
|
|
NM_002296.4(LBR):c.843A>G (p.Val281=)
|
rs61749339
|
0.01280
|
|
NM_006348.5(COG5):c.539-17G>A
|
rs150929025
|
0.01278
|
|
NM_198578.4(LRRK2):c.6241A>G (p.Asn2081Asp)
|
rs33995883
|
0.01276
|
|
NM_000435.3(NOTCH3):c.1487C>T (p.Pro496Leu)
|
rs11670799
|
0.01273
|
|
NM_001009944.3(PKD1):c.3424C>T (p.Arg1142Trp)
|
rs142202785
|
0.01272
|
|
NM_014714.4(IFT140):c.2330T>G (p.Leu777Arg)
|
rs34535263
|
0.01269
|
|
NM_021831.6(AGBL5):c.2375G>A (p.Arg792Gln)
|
rs61354909
|
0.01267
|
|
NM_001861.6(COX4I1):c.228T>C (p.Asp76=)
|
rs4885
|
0.01264
|
|
NM_018341.3(ERMARD):c.1014T>C (p.Asp338=)
|
rs61747671
|
0.01263
|
|
NM_000426.4(LAMA2):c.3613A>G (p.Thr1205Ala)
|
rs35889149
|
0.01262
|
|
NM_138694.4(PKHD1):c.1234-5C>T
|
rs116124750
|
0.01262
|
|
NM_018139.3(DNAAF2):c.78C>T (p.Ala26=)
|
rs7156297
|
0.01255
|
|
NM_001368397.1(FRMPD4):c.741C>G (p.Leu247=)
|
rs7049642
|
0.01254
|
|
NM_019892.6(INPP5E):c.636C>A (p.Val212=)
|
rs34071122
|
0.01252
|
|
NM_025074.7(FRAS1):c.10230C>T (p.Tyr3410=)
|
rs34034599
|
0.01250
|
|
NM_031407.7(HUWE1):c.6031-4T>A
|
rs139283158
|
0.01245
|
|
NM_000540.3(RYR1):c.12012+19T>C
|
rs181590606
|
0.01243
|
|
NM_004004.6(GJB2):c.-216T>G
|
rs574815423
|
0.01243
|
|
NM_000096.4(CP):c.2378G>A (p.Arg793His)
|
rs115552500
|
0.01239
|
|
NM_001080449.3(DNA2):c.888G>A (p.Pro296=)
|
rs16925390
|
0.01237
|
|
NM_153704.6(TMEM67):c.2397T>C (p.Asp799=)
|
rs117195541
|
0.01237
|
|
NM_012193.4(FZD4):c.97C>T (p.Pro33Ser)
|
rs61735304
|
0.01236
|
|
NM_000360.4(TH):c.1278G>A (p.Thr426=)
|
rs36097848
|
0.01234
|
|
NM_152383.5(DIS3L2):c.1488T>C (p.His496=)
|
rs72998118
|
0.01233
|
|
NM_001164277.2(SLC37A4):c.149-14A>G
|
rs79849261
|
0.01232
|
|
NM_024740.2(ALG9):c.764C>T (p.Ser255Leu)
|
rs17113312
|
0.01232
|
|
NM_000435.3(NOTCH3):c.1782C>T (p.Gly594=)
|
rs35793356
|
0.01231
|
|
NM_001848.3(COL6A1):c.97+20G>A
|
rs114178849
|
0.01230
|
|
NM_000382.3(ALDH3A2):c.563C>T (p.Ala188Val)
|
rs115977487
|
0.01228
|
|
NM_001142864.4(PIEZO1):c.4872A>G (p.Ala1624=)
|
rs35375982
|
0.01227
|
|
NM_001009944.3(PKD1):c.8679C>G (p.Ser2893=)
|
rs114143642
|
0.01226
|
|
NM_018023.5(YEATS2):c.1601C>A (p.Thr534Lys)
|
rs34759333
|
0.01226
|
|
NM_173648.4(CCDC141):c.1667A>G (p.Tyr556Cys)
|
rs141003457
|
0.01226
|
|
NM_006031.6(PCNT):c.4962+10G>A
|
rs114474454
|
0.01225
|
|
NM_013335.4(GMPPA):c.213C>T (p.Ala71=)
|
rs41272703
|
0.01225
|
|
NM_000170.3(GLDC):c.2203-19G>A
|
rs13440229
|
0.01223
|
|
NM_001909.5(CTSD):c.189C>T (p.Thr63=)
|
rs114051835
|
0.01221
|
|
NM_017433.5(MYO3A):c.533C>T (p.Thr178Ile)
|
rs33968748
|
0.01220
|
|
NM_153026.3(PRICKLE1):c.744G>A (p.Ala248=)
|
rs34778200
|
0.01220
|
|
NM_001379081.2(FREM1):c.3472-20T>C
|
rs77508679
|
0.01216
|
|
NM_001379228.1(MRAP):c.148G>A (p.Val50Met)
|
rs75858661
|
0.01215
|
|
NM_005045.4(RELN):c.8086G>A (p.Ala2696Thr)
|
rs115640958
|
0.01215
|
|
NM_002204.4(ITGA3):c.2046C>T (p.Ala682=)
|
rs11545792
|
0.01213
|
|
NM_000037.4(ANK1):c.3813G>A (p.Glu1271=)
|
rs16890758
|
0.01205
|
|
NM_020745.4(AARS2):c.861C>A (p.Asp287Glu)
|
rs115815965
|
0.01205
|
|
NM_020435.4(GJC2):c.108C>T (p.Ile36=)
|
rs75469429
|
0.01203
|
|
NM_001162383.2(ARHGEF2):c.2202G>T (p.Pro734=)
|
rs77345976
|
0.01202
|
|
NM_017947.4(MOCOS):c.15G>A (p.Ala5=)
|
rs145568479
|
0.01199
|
|
NM_001001563.5(TIMM50):c.26C>G (p.Ser9Trp)
|
rs35135520
|
0.01198
|
|
NM_182914.3(SYNE2):c.9023T>C (p.Ile3008Thr)
|
rs115969845
|
0.01198
|
|
NM_178452.6(DNAAF1):c.780G>C (p.Gln260His)
|
rs112051327
|
0.01197
|
|
NM_001009944.3(PKD1):c.8123C>T (p.Thr2708Met)
|
rs147350387
|
0.01193
|
|
NM_001164508.2(NEB):c.18113A>G (p.Asn6038Ser)
|
rs16830236
|
0.01192
|
|
NM_001276345.2(TNNT2):c.42-20G>A
|
rs45561443
|
0.01192
|
|
NM_004145.4(MYO9B):c.167G>A (p.Arg56Gln)
|
rs35218876
|
0.01191
|
|
NM_001320198.2(KRT86):c.1102T>C (p.Leu368=)
|
rs11170087
|
0.01184
|
|
NM_000392.5(ABCC2):c.1446C>G (p.Thr482=)
|
rs113646094
|
0.01182
|
|
NM_198578.4(LRRK2):c.867C>T (p.Asn289=)
|
rs17490713
|
0.01182
|
|
NM_017565.4(FAM20A):c.18G>A (p.Arg6=)
|
rs75228334
|
0.01179
|
|
NM_031407.7(HUWE1):c.99A>G (p.Gln33=)
|
rs61743595
|
0.01179
|
|
NM_000383.4(AIRE):c.1411C>T (p.Arg471Cys)
|
rs74203920
|
0.01176
|
|
NM_000718.4(CACNA1B):c.2581C>T (p.Pro861Ser)
|
rs572088326
|
0.01176
|
|
NM_031407.7(HUWE1):c.5716+5G>A
|
rs139135300
|
0.01175
|
|
NM_001374736.1(DST):c.3495-17T>C
|
rs74865335
|
0.01174
|
|
NM_004268.5(MED17):c.1482A>G (p.Gln494=)
|
rs34380494
|
0.01172
|
|
NM_001256864.2(DNAJC6):c.1456C>T (p.Leu486Phe)
|
rs78141380
|
0.01170
|
|
NM_005739.4(RASGRP1):c.1011C>T (p.Tyr337=)
|
rs55704435
|
0.01170
|
|
NM_004773.4(ZNHIT3):c.21C>T (p.Ser7=)
|
rs112194209
|
0.01169
|
|
NM_005739.4(RASGRP1):c.676-16G>T
|
rs56241040
|
0.01169
|
|
NM_000892.5(KLKB1):c.1072A>G (p.Thr358Ala)
|
rs4253379
|
0.01167
|
|
NM_058172.6(ANTXR2):c.331C>T (p.Arg111Cys)
|
rs61741646
|
0.01167
|
|
NM_005739.4(RASGRP1):c.429C>T (p.Asp143=)
|
rs56366451
|
0.01166
|
|
NM_152743.4(BRAT1):c.*219C>A
|
rs145828184
|
0.01166
|
|
NM_052989.3(IFT122):c.2154C>T (p.His718=)
|
rs116819033
|
0.01164
|
|
NM_183357.3(ADCY5):c.3064-18G>A
|
rs56301263
|
0.01164
|
|
NM_005360.5(MAF):c.696C>A (p.Gly232=)
|
rs868331592
|
0.01160
|
|
NM_153717.3(EVC):c.2363G>A (p.Arg788His)
|
rs73795088
|
0.01159
|
|
NM_000892.5(KLKB1):c.519A>G (p.Gly173=)
|
rs4253350
|
0.01158
|
|
NM_032387.5(WNK4):c.1719C>T (p.His573=)
|
rs56243382
|
0.01157
|
|
NM_138694.4(PKHD1):c.8174-18T>A
|
rs111383080
|
0.01154
|
|
NM_000133.4(F9):c.278-27A>G
|
rs3134809
|
0.01152
|
|
NM_001009944.3(PKD1):c.8020C>T (p.Pro2674Ser)
|
rs144557371
|
0.01150
|
|
NM_003922.4(HERC1):c.11332-15T>C
|
rs78341289
|
0.01147
|
|
NM_001048166.1(STIL):c.2017A>G (p.Ser673Gly)
|
rs140448154
|
0.01146
|
|
NM_004070.4(CLCNKA):c.860C>T (p.Ala287Val)
|
rs200268763
|
0.01145
|
|
NM_000550.3(TYRP1):c.1557T>G (p.Tyr519Ter)
|
rs41302073
|
0.01144
|
|
NM_001034850.3(RETREG1):c.1135C>G (p.Gln379Glu)
|
rs34432513
|
0.01144
|
|
NM_152743.4(BRAT1):c.1726G>A (p.Gly576Ser)
|
rs61740320
|
0.01143
|
|
NM_001278512.2(AP3B2):c.93C>T (p.Ile31=)
|
rs200226421
|
0.01142
|
|
NM_153704.6(TMEM67):c.781G>A (p.Asp261Asn)
|
rs35793208
|
0.01141
|
|
NM_182758.4(WDR72):c.1839G>A (p.Val613=)
|
rs78493456
|
0.01140
|
|
NM_024642.5(GALNT12):c.1605+4G>A
|
rs79574929
|
0.01136
|
|
NM_152295.5(TARS1):c.62G>A (p.Gly21Asp)
|
rs34334786
|
0.01136
|
|
NM_001394062.1(MACF1):c.13641A>G (p.Glu4547=)
|
rs6673570
|
0.01135
|
|
NM_001371928.1(AHDC1):c.2634C>T (p.Ala878=)
|
rs60039430
|
0.01134
|
|
NM_032119.4(ADGRV1):c.7293C>T (p.Ala2431=)
|
rs77791584
|
0.01133
|
|
NM_001164508.2(NEB):c.23495C>T (p.Thr7832Ile)
|
rs34368668
|
0.01129
|
|
NM_001023570.4(IQCB1):c.424T>C (p.Phe142Leu)
|
rs11926958
|
0.01125
|
|
NM_014804.3(KIAA0753):c.2338C>T (p.Arg780Cys)
|
rs73342622
|
0.01124
|
|
NM_021913.5(AXL):c.2037-10A>C
|
rs117941544
|
0.01124
|
|
NM_005861.4(STUB1):c.642T>C (p.Leu214=)
|
rs79687861
|
0.01123
|
|
NM_032040.5(CCDC8):c.1045G>C (p.Ala349Pro)
|
rs28498765
|
0.01123
|
|
NM_005589.4(ALDH6A1):c.*2517T>C
|
rs145794069
|
0.01119
|
|
NM_080425.4(GNAS):c.1376C>G (p.Pro459Arg)
|
rs148033592
|
0.01117
|
|
NM_025074.7(FRAS1):c.1416C>T (p.Cys472=)
|
rs35690113
|
0.01114
|
|
NM_003183.6(ADAM17):c.2240C>T (p.Ser747Leu)
|
rs55796712
|
0.01113
|
|
NM_005502.4(ABCA1):c.2868C>T (p.Thr956=)
|
rs35561837
|
0.01113
|
|
NM_000834.5(GRIN2B):c.2691C>T (p.Asn897=)
|
rs35125534
|
0.01112
|
|
NM_001199107.2(TBC1D24):c.1509C>T (p.Ser503=)
|
rs189089167
|
0.01110
|
|
NM_017534.6(MYH2):c.2967A>G (p.Ala989=)
|
rs113190032
|
0.01110
|
|
NM_000037.4(ANK1):c.489C>T (p.Leu163=)
|
rs34173100
|
0.01106
|
|
NM_018368.4(LMBRD1):c.801C>T (p.Arg267=)
|
rs34327883
|
0.01106
|
|
NM_002168.4(IDH2):c.993G>A (p.Thr331=)
|
rs61737002
|
0.01104
|
|
NM_017662.5(TRPM6):c.2428C>T (p.Leu810=)
|
rs55956641
|
0.01104
|
|
NM_024989.4(PGAP1):c.860+12C>A
|
rs79169433
|
0.01104
|
|
NM_001377.3(DYNC2H1):c.6478-6C>T
|
rs114254215
|
0.01103
|
|
NM_020247.5(COQ8A):c.1053C>T (p.Gly351=)
|
rs55958233
|
0.01103
|
|
NM_004006.3(DMD):c.1554T>A (p.Asp518Glu)
|
rs61733587
|
0.01098
|
|
NM_030667.3(PTPRO):c.2100C>T (p.Asn700=)
|
rs80309166
|
0.01095
|
|
NM_004357.5(CD151):c.-7-20C>T
|
rs192915611
|
0.01093
|
|
NM_001048174.2(MUTYH):c.1517G>A (p.Arg506Gln)
|
rs3219497
|
0.01092
|
|
NM_001164665.2(KIAA1549):c.958G>A (p.Asp320Asn)
|
rs61978615
|
0.01092
|
|
NM_025074.7(FRAS1):c.3951G>A (p.Leu1317=)
|
rs76107832
|
0.01090
|
|
NM_001122681.2(SH3BP2):c.801C>T (p.Cys267=)
|
rs114926004
|
0.01089
|
|
NM_004380.3(CREBBP):c.3128C>T (p.Ser1043Leu)
|
rs61731376
|
0.01088
|
|
NM_201384.3(PLEC):c.5477G>A (p.Arg1826Gln)
|
rs147838690
|
0.01083
|
|
NM_172364.5(CACNA2D4):c.487-4C>T
|
rs60194757
|
0.01079
|
|
NM_018958.3(NPAP1):c.663G>A (p.Met221Ile)
|
rs35667483
|
0.01078
|
|
NM_170606.3(KMT2C):c.4508-12A>T
|
rs28418446
|
0.01078
|
|
NM_001142864.4(PIEZO1):c.3363A>G (p.Thr1121=)
|
rs35100558
|
0.01077
|
|
NM_004187.5(KDM5C):c.564G>A (p.Lys188=)
|
rs61751437
|
0.01076
|
|
NM_004628.5(XPC):c.1362T>C (p.Asp454=)
|
rs3731128
|
0.01075
|
|
NM_020632.3(ATP6V0A4):c.417+14G>C
|
rs141824671
|
0.01075
|
|
NM_001184880.2(PCDH19):c.1137C>T (p.Gly379=)
|
rs56277715
|
0.01073
|
|
NM_000054.7(AVPR2):c.1113G>A (p.Ser371=)
|
rs5203
|
0.01072
|
|
NM_173660.5(DOK7):c.782G>A (p.Arg261His)
|
rs16844460
|
0.01070
|
|
NM_007363.5(NONO):c.154+11G>C
|
rs142366840
|
0.01069
|
|
NM_030787.4(CFHR5):c.136C>T (p.Pro46Ser)
|
rs12097550
|
0.01068
|
|
NM_001394073.1(HS6ST2):c.975A>G (p.Ala325=)
|
rs143752287
|
0.01066
|
|
NM_199242.3(UNC13D):c.904C>T (p.Leu302Phe)
|
rs55661958
|
0.01066
|
|
NM_005045.4(RELN):c.1799C>T (p.Ser600Phe)
|
rs78008536
|
0.01065
|
|
NM_012144.4(DNAI1):c.978A>C (p.Gln326His)
|
rs16931555
|
0.01063
|
|
NM_000537.4(REN):c.492+3A>G
|
rs5706
|
0.01062
|
|
NM_000085.5(CLCNKB):c.1570G>A (p.Val524Ile)
|
rs114387880
|
0.01060
|
|
NM_016327.3(UPB1):c.873+9C>T
|
rs111674727
|
0.01060
|
|
NM_001041.4(SI):c.692C>G (p.Thr231Ser)
|
rs79468450
|
0.01059
|
|
NM_001278512.2(AP3B2):c.3155+10C>T
|
rs113056981
|
0.01057
|
|
NM_000441.2(SLC26A4):c.970A>T (p.Asn324Tyr)
|
rs36039758
|
0.01056
|
|
NM_007294.4(BRCA1):c.3418A>G (p.Ser1140Gly)
|
rs2227945
|
0.01054
|
|
NM_022042.4(SLC26A1):c.1115G>A (p.Arg372His)
|
rs73219719
|
0.01054
|
|
NM_031935.3(HMCN1):c.12941T>C (p.Val4314Ala)
|
rs79183244
|
0.01053
|
|
NM_033028.5(BBS4):c.712-17C>G
|
rs150754122
|
0.01051
|
|
NM_032387.5(WNK4):c.2029C>T (p.Arg677Trp)
|
rs9896991
|
0.01047
|
|
NM_001144967.3(NEDD4L):c.2752+6C>T
|
rs12964776
|
0.01046
|
|
NM_001394062.1(MACF1):c.2793C>T (p.Val931=)
|
rs74718295
|
0.01044
|
|
NM_000383.4(AIRE):c.755C>T (p.Pro252Leu)
|
rs34397615
|
0.01042
|
|
NM_001379451.1(BCORL1):c.4851G>A (p.Ser1617=)
|
rs35736519
|
0.01042
|
|
NM_001297.5(CNGB1):c.3527C>T (p.Pro1176Leu)
|
rs73562944
|
0.01041
|
|
NM_005045.4(RELN):c.5284G>A (p.Val1762Ile)
|
rs79499902
|
0.01040
|
|
NM_001348768.2(HECW2):c.996A>G (p.Pro332=)
|
rs10172730
|
0.01037
|
|
NM_001378452.1(ITPR1):c.1302G>A (p.Pro434=)
|
rs34252981
|
0.01036
|
|
NM_001963.6(EGF):c.1380A>G (p.Glu460=)
|
rs11568953
|
0.01036
|
|
NM_015021.3(ZNF292):c.1227G>A (p.Leu409=)
|
rs75154406
|
0.01036
|
|
NM_003978.5(PSTPIP1):c.642+16G>A
|
rs78282498
|
0.01035
|
|
NM_182961.4(SYNE1):c.402+11A>G
|
rs80276170
|
0.01033
|
|
NM_000098.3(CPT2):c.1767G>A (p.Thr589=)
|
rs77565483
|
0.01032
|
|
NM_004525.3(LRP2):c.5293G>A (p.Val1765Met)
|
rs116456291
|
0.01031
|
|
NM_021008.4(DEAF1):c.774C>T (p.Tyr258=)
|
rs117691319
|
0.01031
|
|
NM_001025389.2(AMPD3):c.1131C>T (p.His377=)
|
rs76407515
|
0.01030
|
|
NM_001378452.1(ITPR1):c.1554+17G>A
|
rs80123990
|
0.01028
|
|
NM_018685.5(ANLN):c.2971-12T>G
|
rs6954957
|
0.01028
|
|
NM_001394062.1(MACF1):c.2307G>C (p.Leu769=)
|
rs116026083
|
0.01027
|
|
NM_000070.3(CAPN3):c.551C>T (p.Thr184Met)
|
rs35889956
|
0.01026
|
|
NM_000283.4(PDE6B):c.2331C>T (p.Phe777=)
|
rs35792756
|
0.01026
|
|
NM_001012614.2(CTBP1):c.486C>T (p.Arg162=)
|
rs1045458
|
0.01026
|
|
NM_005236.3(ERCC4):c.2655G>A (p.Thr885=)
|
rs16963255
|
0.01026
|
|
NM_000293.3(PHKB):c.555G>T (p.Met185Ile)
|
rs56257827
|
0.01025
|
|
NM_001025389.2(AMPD3):c.1081G>A (p.Gly361Ser)
|
rs75286033
|
0.01024
|
|
NM_004525.3(LRP2):c.9033-8T>C
|
rs140148483
|
0.01021
|
|
NM_003042.4(SLC6A1):c.1002A>G (p.Ala334=)
|
rs35513423
|
0.01020
|
|
NM_001366385.1(CARD14):c.2267G>A (p.Cys756Tyr)
|
rs34822755
|
0.01019
|
|
NM_017838.4(NHP2):c.351C>T (p.Ala117=)
|
rs115334254
|
0.01019
|
|
NM_015662.3(IFT172):c.571-15C>G
|
rs75809198
|
0.01015
|
|
NM_001318789.2(TLR2):c.1626C>G (p.Leu542=)
|
rs5743701
|
0.01010
|
|
NM_004519.4(KCNQ3):c.1059C>T (p.Ser353=)
|
rs35413925
|
0.01009
|
|
NM_014694.4(ADAMTSL2):c.1230C>T (p.Ala410=)
|
rs369962641
|
0.01009
|
|
NM_001365276.2(TNXB):c.10607-19C>A
|
rs773540524
|
0.01008
|
|
NM_017612.5(ZCCHC8):c.1345+5G>A
|
rs116783031
|
0.01008
|
|
NM_198428.3(BBS9):c.2299-20A>C
|
rs17727583
|
0.01007
|
|
NM_014423.4(AFF4):c.2892A>G (p.Lys964=)
|
rs34434281
|
0.01004
|
|
NM_020745.4(AARS2):c.1412G>A (p.Arg471Gln)
|
rs34530313
|
0.01004
|
|
NM_032806.6(POMGNT2):c.1488C>T (p.Gly496=)
|
rs35207939
|
0.01004
|
|
NM_000334.4(SCN4A):c.2717G>C (p.Ser906Thr)
|
rs41280102
|
0.01003
|
|
NM_014384.3(ACAD8):c.210+6C>T
|
rs148089913
|
0.01003
|
|
NM_053025.4(MYLK):c.*945G>A
|
rs112095273
|
0.01003
|
|
NM_003483.6(HMGA2):c.199-8A>G
|
rs55674630
|
0.01002
|
|
NM_001114753.3(ENG):c.572G>A (p.Gly191Asp)
|
rs41322046
|
0.01000
|
|
NM_004369.4(COL6A3):c.4184G>A (p.Arg1395Gln)
|
rs80272723
|
0.01000
|
|
NM_139027.6(ADAMTS13):c.2195C>T (p.Ala732Val)
|
rs41314453
|
0.01000
|
|
NM_003791.4(MBTPS1):c.17T>C (p.Ile6Thr)
|
rs34701895
|
0.00995
|
|
NM_005529.7(HSPG2):c.5742C>T (p.His1914=)
|
rs62642522
|
0.00995
|
|
NM_022042.4(SLC26A1):c.1713C>G (p.Ala571=)
|
rs36069160
|
0.00995
|
|
NM_001457.4(FLNB):c.6017A>G (p.Lys2006Arg)
|
rs62621996
|
0.00994
|
|
NM_004974.4(KCNA2):c.1392T>G (p.Gly464=)
|
rs115456625
|
0.00993
|
|
NM_017617.5(NOTCH1):c.1665G>A (p.Thr555=)
|
rs148331061
|
0.00992
|
|
NM_000789.4(ACE):c.1119-8C>T
|
rs114861086
|
0.00991
|
|
NM_002520.7(NPM1):c.543T>C (p.Phe181=)
|
rs61755048
|
0.00991
|
|
NM_172362.3(KCNH1):c.2448G>A (p.Ala816=)
|
rs112047226
|
0.00991
|
|
NM_020843.4(SCAPER):c.95G>A (p.Ser32Asn)
|
rs114705075
|
0.00987
|
|
NM_000297.4(PKD2):c.1359A>G (p.Pro453=)
|
rs17013754
|
0.00985
|
|
NM_000515.5(GH1):c.116C>T (p.Ala39Val)
|
rs151263636
|
0.00985
|
|
NM_001567.4(INPPL1):c.909G>C (p.Lys303Asn)
|
rs17847215
|
0.00985
|
|
NM_006269.2(RP1):c.1118C>T (p.Thr373Ile)
|
rs77775126
|
0.00985
|
|
NM_024570.4(RNASEH2B):c.156G>A (p.Leu52=)
|
rs35416748
|
0.00984
|
|
NM_000147.5(FUCA1):c.327G>A (p.Gln109=)
|
rs61996281
|
0.00982
|
|
NM_000391.4(TPP1):c.1044C>T (p.Ala348=)
|
rs35706972
|
0.00982
|
|
NM_004006.3(DMD):c.6322C>T (p.Arg2108Cys)
|
rs16990169
|
0.00981
|
|
NM_020461.4(TUBGCP6):c.681C>T (p.Asp227=)
|
rs147321582
|
0.00981
|
|
NM_000444.6(PHEX):c.288A>G (p.Glu96=)
|
rs112836831
|
0.00980
|
|
NM_017947.4(MOCOS):c.2599G>A (p.Val867Met)
|
rs79823152
|
0.00979
|
|
NM_198428.3(BBS9):c.1646C>T (p.Thr549Ile)
|
rs59252892
|
0.00979
|
|
NM_002340.6(LSS):c.752C>T (p.Ala251Val)
|
rs61735801
|
0.00978
|
|
NM_016341.4(PLCE1):c.4059C>T (p.Phe1353=)
|
rs61751499
|
0.00977
|
|
NM_003036.4(SKI):c.456C>T (p.Arg152=)
|
rs149898447
|
0.00976
|
|
NM_003690.5(PRKRA):c.861C>T (p.Ser287=)
|
rs116833881
|
0.00976
|
|
NM_000343.4(SLC5A1):c.1092C>T (p.Ile364=)
|
rs33915456
|
0.00975
|
|
NM_016213.5(TRIP4):c.981C>T (p.Thr327=)
|
rs115922345
|
0.00975
|
|
NM_182758.4(WDR72):c.857+9A>C
|
rs139139066
|
0.00974
|
|
NM_001605.3(AARS1):c.2900A>T (p.Lys967Met)
|
rs35744709
|
0.00971
|
|
NM_006346.4(PIBF1):c.1567C>A (p.His523Asn)
|
rs115858628
|
0.00971
|
|
NM_001330078.2(NRXN1):c.3365-110075G>A
|
rs189873392
|
0.00970
|
|
NM_032856.5(WDR73):c.336G>A (p.Gln112=)
|
rs73449331
|
0.00970
|
|
NM_024876.4(COQ8B):c.*10T>C
|
rs61742811
|
0.00969
|
|
NM_000521.4(HEXB):c.449C>A (p.Thr150Asn)
|
rs148268937
|
0.00967
|
|
NM_015443.4(KANSL1):c.2109A>G (p.Leu703=)
|
rs34101027
|
0.00967
|
|
NM_001330360.2(POLA1):c.4356C>T (p.Tyr1452=)
|
rs11573531
|
0.00965
|
|
NM_001184.4(ATR):c.6339A>G (p.Val2113=)
|
rs7635479
|
0.00964
|
|
NM_001330078.2(NRXN1):c.4217-16A>C
|
rs74520052
|
0.00964
|
|
NM_206933.4(USH2A):c.13763C>A (p.Ser4588Tyr)
|
rs78253373
|
0.00962
|
|
NM_021728.4(OTX2):c.459C>T (p.Ser153=)
|
rs34537598
|
0.00961
|
|
NM_001142864.4(PIEZO1):c.6294C>T (p.Tyr2098=)
|
rs35015310
|
0.00960
|
|
NM_002473.6(MYH9):c.1108+9C>T
|
rs145751072
|
0.00959
|
|
NM_001101362.3(KBTBD13):c.794G>A (p.Gly265Asp)
|
rs146917406
|
0.00958
|
|
NM_017570.5(OPLAH):c.3571C>T (p.Leu1191=)
|
rs61740339
|
0.00958
|
|
NM_021098.3(CACNA1H):c.6939C>T (p.Pro2313=)
|
rs59385968
|
0.00957
|
|
NM_001376.5(DYNC1H1):c.7137G>A (p.Leu2379=)
|
rs17512439
|
0.00956
|
|
NM_002838.5(PTPRC):c.1052A>G (p.Asn351Ser)
|
rs79141749
|
0.00956
|
|
NM_004998.4(MYO1E):c.643-4C>T
|
rs73422973
|
0.00956
|
|
NM_032409.3(PINK1):c.1502G>A (p.Arg501Gln)
|
rs61744200
|
0.00956
|
|
NM_002485.5(NBN):c.797C>T (p.Pro266Leu)
|
rs769420
|
0.00955
|
|
NM_018136.5(ASPM):c.7917A>G (p.Lys2639=)
|
rs112647911
|
0.00953
|
|
NM_000204.5(CFI):c.1534+5G>T
|
rs114013791
|
0.00951
|
|
NM_002427.4(MMP13):c.1080T>C (p.Tyr360=)
|
rs61737008
|
0.00951
|
|
NM_006267.5(RANBP2):c.1209C>T (p.Ser403=)
|
rs140275032
|
0.00951
|
|
NM_032382.5(COG8):c.1589C>T (p.Pro530Leu)
|
rs114861924
|
0.00951
|
|
NM_018474.6(KIZ):c.1809C>T (p.Phe603=)
|
rs34011504
|
0.00950
|
|
NM_001080414.4(CCDC88C):c.2204G>A (p.Arg735His)
|
rs114142372
|
0.00949
|
|
NM_000548.5(TSC2):c.5321G>C (p.Ser1774Thr)
|
rs9209
|
0.00948
|
|
NM_006267.5(RANBP2):c.1632-16T>C
|
rs147266881
|
0.00948
|
|
NM_001457.4(FLNB):c.1919C>T (p.Thr640Met)
|
rs62621999
|
0.00943
|
|
NM_006059.4(LAMC3):c.2096G>A (p.Gly699Asp)
|
rs61737720
|
0.00943
|
|
NM_201384.3(PLEC):c.12360G>A (p.Pro4120=)
|
rs146781600
|
0.00943
|
|
NM_001042681.2(RERE):c.879+20C>T
|
rs77037803
|
0.00942
|
|
NM_001184880.2(PCDH19):c.81C>T (p.Tyr27=)
|
rs56307810
|
0.00942
|
|
NM_020632.3(ATP6V0A4):c.735T>C (p.Thr245=)
|
rs77328827
|
0.00942
|
|
NM_145038.5(DRC1):c.36G>C (p.Pro12=)
|
rs116549039
|
0.00942
|
|
NM_004859.4(CLTC):c.2797-9C>T
|
rs148657971
|
0.00940
|
|
NM_004525.3(LRP2):c.11346C>T (p.Asn3782=)
|
rs7598640
|
0.00939
|
|
NM_001136193.2(FASTKD2):c.-51A>G
|
rs116297724
|
0.00938
|
|
NM_002386.4(MC1R):c.586T>C (p.Phe196Leu)
|
rs3212366
|
0.00938
|
|
NM_005050.4(ABCD4):c.195T>C (p.Ser65=)
|
rs35417609
|
0.00937
|
|
NM_017947.4(MOCOS):c.1465C>T (p.Arg489Cys)
|
rs35980997
|
0.00937
|
|
NM_032119.4(ADGRV1):c.1817A>C (p.Asn606Thr)
|
rs61749567
|
0.00937
|
|
NM_022726.4(ELOVL4):c.814G>C (p.Glu272Gln)
|
rs148919174
|
0.00936
|
|
NM_000083.3(CLCN1):c.450C>T (p.Tyr150=)
|
rs56307536
|
0.00935
|
|
NM_015202.5(KATNIP):c.3719C>T (p.Ala1240Val)
|
rs55953014
|
0.00935
|
|
NM_024921.4(POF1B):c.113A>C (p.Gln38Pro)
|
rs142588591
|
0.00932
|
|
NM_207122.2(EXT2):c.1017T>C (p.Cys339=)
|
rs11828047
|
0.00930
|
|
NM_002076.4(GNS):c.1598G>A (p.Arg533His)
|
rs61743822
|
0.00929
|
|
NM_015713.5(RRM2B):c.48+273G>T
|
rs149523343
|
0.00928
|
|
NM_021098.3(CACNA1H):c.1120-8C>T
|
rs59091981
|
0.00928
|
|
NM_004924.6(ACTN4):c.929G>A (p.Arg310Gln)
|
rs112545413
|
0.00927
|
|
NM_006513.4(SARS1):c.1160G>A (p.Gly387Glu)
|
rs140717526
|
0.00927
|
|
NM_002661.5(PLCG2):c.3726C>A (p.Leu1242=)
|
rs76506409
|
0.00926
|
|
NM_001009944.3(PKD1):c.3935G>A (p.Arg1312Gln)
|
rs142129358
|
0.00924
|
|
NM_001378452.1(ITPR1):c.2433T>A (p.Ile811=)
|
rs145220403
|
0.00924
|
|
NM_213599.3(ANO5):c.616A>G (p.Thr206Ala)
|
rs78266558
|
0.00922
|
|
NM_021942.6(TRAPPC11):c.1422-3G>A
|
rs73872662
|
0.00921
|
|
NM_001037.5(SCN1B):c.591-14C>A
|
rs28365109
|
0.00920
|
|
NM_006513.4(SARS1):c.1387+8T>C
|
rs74854256
|
0.00920
|
|
NM_201384.3(PLEC):c.8489A>G (p.Tyr2830Cys)
|
rs199720608
|
0.00920
|
|
NM_000018.4(ACADVL):c.623-8C>T
|
rs144996066
|
0.00919
|
|
NM_032578.4(MYPN):c.1245+20A>G
|
rs111634581
|
0.00919
|
|
NM_001204.7(BMPR2):c.-301G>A
|
rs116154690
|
0.00917
|
|
NM_001372044.2(SHANK3):c.1113-8C>T
|
rs9628236
|
0.00917
|
|
NM_000083.3(CLCN1):c.2136T>C (p.Asp712=)
|
rs73726622
|
0.00916
|
|
NM_002181.4(IHH):c.819C>T (p.Pro273=)
|
rs61747697
|
0.00915
|
|
NM_004444.5(EPHB4):c.1743T>C (p.Tyr581=)
|
rs116240595
|
0.00915
|
|
NM_001372.4(DNAH9):c.8598C>T (p.Ser2866=)
|
rs61746800
|
0.00913
|
|
NM_014270.5(SLC7A9):c.1119G>A (p.Ser373=)
|
rs111630604
|
0.00913
|
|
NM_005589.4(ALDH6A1):c.731-12T>C
|
rs10146187
|
0.00912
|
|
NM_001710.6(CFB):c.1137C>T (p.Arg379=)
|
rs45600936
|
0.00911
|
|
NM_000203.5(IDUA):c.235G>A (p.Ala79Thr)
|
rs58037052
|
0.00910
|
|
NM_001009944.3(PKD1):c.1323G>A (p.Gly441=)
|
rs145776888
|
0.00910
|
|
NM_198334.3(GANAB):c.380+15A>G
|
rs146098557
|
0.00910
|
|
NM_025074.7(FRAS1):c.4940C>T (p.Thr1647Ile)
|
rs34271211
|
0.00909
|
|
NM_182961.4(SYNE1):c.3804G>A (p.Leu1268=)
|
rs139524103
|
0.00909
|
|
NM_001040142.2(SCN2A):c.5919C>T (p.Pro1973=)
|
rs73025979
|
0.00908
|
|
NM_001042492.3(NF1):c.2022C>T (p.Ser674=)
|
rs2230851
|
0.00908
|
|
NM_014822.4(SEC24D):c.1576C>T (p.Leu526Phe)
|
rs141180741
|
0.00908
|
|
NM_015331.3(NCSTN):c.1101+13T>C
|
rs41266885
|
0.00907
|
|
NM_021939.4(FKBP10):c.1256+14G>C
|
rs202121419
|
0.00906
|
|
NM_014252.4(SLC25A15):c.623-17A>G
|
rs191780003
|
0.00905
|
|
NM_001100.4(ACTA1):c.453C>A (p.Thr151=)
|
rs76030344
|
0.00904
|
|
NM_024996.7(GFM1):c.127A>G (p.Asn43Asp)
|
rs35942089
|
0.00900
|
|
NM_000380.4(XPA):c.766A>G (p.Met256Val)
|
rs57519506
|
0.00899
|
|
NM_145068.4(TRPV3):c.224+8C>T
|
rs113563330
|
0.00898
|
|
NM_001191057.4(PDE1C):c.525C>T (p.Ser175=)
|
rs76290787
|
0.00897
|
|
NM_005529.7(HSPG2):c.1167C>T (p.Asp389=)
|
rs145101074
|
0.00897
|
|
NM_012062.5(DNM1L):c.741-19G>A
|
rs79520527
|
0.00897
|
|
NM_024301.5(FKRP):c.249C>T (p.Ala83=)
|
rs149030303
|
0.00897
|
|
NM_000157.4(GBA1):c.762-18T>A
|
rs140335079
|
0.00896
|
|
NM_001128227.3(GNE):c.-10G>A
|
rs73449614
|
0.00894
|
|
NM_000709.4(BCKDHA):c.34C>A (p.Arg12=)
|
rs34541442
|
0.00893
|
|
NM_207361.6(FREM2):c.6036C>T (p.Phe2012=)
|
rs115455037
|
0.00893
|
|
NM_006949.4(STXBP2):c.1663A>G (p.Arg555Gly)
|
rs61736586
|
0.00892
|
|
NM_016219.5(MAN1B1):c.1932C>T (p.Val644=)
|
rs34355967
|
0.00892
|
|
NM_001014.5(RPS10):c.1-18A>G
|
rs115481077
|
0.00891
|
|
NM_003978.5(PSTPIP1):c.204G>A (p.Thr68=)
|
rs113386299
|
0.00891
|
|
NM_014845.6(FIG4):c.1242T>C (p.Ile414=)
|
rs61729087
|
0.00891
|
|
NM_032856.5(WDR73):c.41+262G>A
|
rs147776100
|
0.00888
|
|
NM_000187.4(HGD):c.1179T>C (p.Asp393=)
|
rs146482816
|
0.00886
|
|
NM_198075.4(LRRC56):c.655G>A (p.Val219Met)
|
rs138291757
|
0.00885
|
|
NM_002661.5(PLCG2):c.2262C>T (p.Asp754=)
|
rs74032923
|
0.00884
|
|
NM_004100.5(EYA4):c.*2799C>A
|
rs143596676
|
0.00882
|
|
NM_201596.3(CACNB2):c.1785C>T (p.His595=)
|
rs61733967
|
0.00879
|
|
NM_000065.5(C6):c.1189A>G (p.Lys397Glu)
|
rs6896011
|
0.00878
|
|
NM_001059.3(TACR3):c.857A>G (p.Lys286Arg)
|
rs2276973
|
0.00877
|
|
NM_000275.3(OCA2):c.796C>T (p.Arg266Trp)
|
rs33929465
|
0.00876
|
|
NM_001365276.2(TNXB):c.113G>A (p.Arg38Gln)
|
rs149502087
|
0.00876
|
|
NM_000085.5(CLCNKB):c.310G>A (p.Val104Ile)
|
rs35530360
|
0.00874
|
|
NM_002473.6(MYH9):c.2038-5T>C
|
rs8137674
|
0.00874
|
|
NM_004076.5(CRYBB3):c.475G>A (p.Val159Ile)
|
rs4455261
|
0.00874
|
|
NM_000169.2(GLA):c.-30G>A
|
rs3027584
|
0.00873
|
|
NM_000334.4(SCN4A):c.2341G>A (p.Val781Ile)
|
rs62070884
|
0.00873
|
|
NM_015158.5(KANK1):c.3245+12T>C
|
rs187592077
|
0.00871
|
|
NM_198428.3(BBS9):c.555C>T (p.Ala185=)
|
rs35440033
|
0.00871
|
|
NM_001846.4(COL4A2):c.732C>T (p.Asp244=)
|
rs144319016
|
0.00870
|
|
NM_003060.4(SLC22A5):c.-319C>A
|
rs60978556
|
0.00870
|
|
NM_207111.4(RNF216):c.149C>G (p.Ala50Gly)
|
rs115737075
|
0.00870
|
|
NM_001018115.3(FANCD2):c.2484G>A (p.Lys828=)
|
rs55980657
|
0.00869
|
|
NM_001846.4(COL4A2):c.3448C>A (p.Gln1150Lys)
|
rs62621875
|
0.00869
|
|
NM_001205254.2(OCLN):c.70C>G (p.Pro24Ala)
|
rs147125035
|
0.00868
|
|
NM_000168.6(GLI3):c.1029-11C>T
|
rs116195563
|
0.00867
|
|
NM_017570.5(OPLAH):c.3265G>A (p.Val1089Ile)
|
rs185836803
|
0.00867
|
|
NM_000426.4(LAMA2):c.8548-10T>C
|
rs113644365
|
0.00865
|
|
NM_018136.5(ASPM):c.8820+7C>G
|
rs115045814
|
0.00865
|
|
NM_203447.4(DOCK8):c.3840+3A>G
|
rs16938572
|
0.00865
|
|
NM_001918.5(DBT):c.724T>C (p.Ser242Pro)
|
rs146249007
|
0.00864
|
|
NM_005866.4(SIGMAR1):c.622C>T (p.Arg208Trp)
|
rs11559048
|
0.00864
|
|
NM_006662.3(SRCAP):c.3699G>A (p.Pro1233=)
|
rs34734612
|
0.00864
|
|
NM_000901.5(NR3C2):c.2139T>C (p.Pro713=)
|
rs151096115
|
0.00862
|
|
NM_178857.6(RP1L1):c.1691C>G (p.Ser564Cys)
|
rs77585543
|
0.00860
|
|
NM_181426.2(CCDC39):c.2159-16A>C
|
rs147028259
|
0.00860
|
|
NM_001382.4(DPAGT1):c.918-18G>A
|
rs145206990
|
0.00859
|
|
NM_000168.6(GLI3):c.368-19G>A
|
rs79879393
|
0.00858
|
|
NM_001354483.2(CSGALNACT1):c.409G>A (p.Val137Ile)
|
rs17128518
|
0.00857
|
|
NM_024757.5(EHMT1):c.526C>T (p.Pro176Ser)
|
rs34704821
|
0.00856
|
|
NM_080424.4(SP110):c.1447G>A (p.Gly483Arg)
|
rs149485401
|
0.00856
|
|
NM_145207.3(AFG2A):c.1785G>T (p.Val595=)
|
rs62324113
|
0.00855
|
|
NM_198252.3(GSN):c.513+19T>C
|
rs79969850
|
0.00853
|
|
NM_001164508.2(NEB):c.16669A>G (p.Ile5557Val)
|
rs113439353
|
0.00852
|
|
NM_000320.3(QDPR):c.436+19A>G
|
rs112111831
|
0.00851
|
|
NM_153212.3(GJB4):c.238C>T (p.Gln80Ter)
|
rs114429815
|
0.00851
|
|
NM_001171.6(ABCC6):c.3289C>A (p.Leu1097Ile)
|
rs60707953
|
0.00849
|
|
NM_003620.4(PPM1D):c.1149A>C (p.Gly383=)
|
rs111239559
|
0.00849
|
|
NM_003356.4(UCP3):c.127-7C>T
|
rs77012485
|
0.00848
|
|
NM_000546.6(TP53):c.97-6C>T
|
rs35117667
|
0.00847
|
|
NM_025132.4(WDR19):c.1581C>A (p.Thr527=)
|
rs114689848
|
0.00847
|
|
NM_002693.3(POLG):c.2109C>A (p.Ala703=)
|
rs2307429
|
0.00845
|
|
NM_017433.5(MYO3A):c.3094G>A (p.Ala1032Thr)
|
rs34918608
|
0.00845
|
|
NM_001853.4(COL9A3):c.520-6C>T
|
rs45476191
|
0.00844
|
|
NM_005573.4(LMNB1):c.360-19C>T
|
rs74640805
|
0.00844
|
|
NM_001365276.2(TNXB):c.4484C>T (p.Thr1495Ile)
|
rs6910390
|
0.00842
|
|
NM_000435.3(NOTCH3):c.5854G>A (p.Val1952Met)
|
rs115582213
|
0.00841
|
|
NM_024334.3(TMEM43):c.222C>T (p.Pro74=)
|
rs34099410
|
0.00841
|
|
NM_000033.4(ABCD1):c.901-16C>T
|
rs41302176
|
0.00840
|
|
NM_001039570.3(KREMEN1):c.97+12C>T
|
rs534421912
|
0.00840
|
|
NM_001267550.2(TTN):c.69740C>T (p.Pro23247Leu)
|
rs115658240
|
0.00835
|
|
NM_001376013.1(EPB41):c.1464-20T>C
|
rs139715164
|
0.00835
|
|
NM_004239.4(TRIP11):c.2134G>A (p.Glu712Lys)
|
rs143524436
|
0.00835
|
|
NM_022124.6(CDH23):c.4846-19G>C
|
rs80261750
|
0.00835
|
|
NM_018194.6(HHAT):c.997G>A (p.Gly333Arg)
|
rs61744143
|
0.00834
|
|
NM_000083.3(CLCN1):c.1065-16T>C
|
rs113764654
|
0.00833
|
|
NM_006031.6(PCNT):c.6616A>G (p.Thr2206Ala)
|
rs9981448
|
0.00833
|
|
NM_018117.12(WDR11):c.2991A>G (p.Thr997=)
|
rs114808011
|
0.00831
|
|
NM_002024.6(FMR1):c.18G>T (p.Val6=)
|
rs111485627
|
0.00830
|
|
NM_002485.5(NBN):c.2146A>G (p.Asn716Asp)
|
rs72563785
|
0.00830
|
|
NM_033124.5(CCDC65):c.1021G>T (p.Asp341Tyr)
|
rs117646559
|
0.00829
|
|
NM_005219.5(DIAPH1):c.621-19T>C
|
rs181224861
|
0.00828
|
|
NM_001904.4(CTNNB1):c.14-4A>G
|
rs5743391
|
0.00827
|
|
NM_022168.4(IFIH1):c.177T>C (p.Val59=)
|
rs115500208
|
0.00826
|
|
NM_002168.4(IDH2):c.429G>C (p.Leu143=)
|
rs144712130
|
0.00824
|
|
NM_207361.6(FREM2):c.3753C>T (p.Ser1251=)
|
rs78099370
|
0.00823
|
|
NM_001148.6(ANK2):c.9854T>C (p.Ile3285Thr)
|
rs36210417
|
0.00822
|
|
NM_015355.4(SUZ12):c.1671T>C (p.Tyr557=)
|
rs55832508
|
0.00818
|
|
NM_032380.5(GFM2):c.43A>G (p.Ile15Val)
|
rs79992455
|
0.00818
|
|
NM_152703.5(SAMD9L):c.3964T>C (p.Leu1322=)
|
rs73710962
|
0.00818
|
|
NM_001197104.2(KMT2A):c.10209G>A (p.Pro3403=)
|
rs9332843
|
0.00817
|
|
NM_018417.6(ADCY10):c.1021-11C>T
|
rs146573590
|
0.00816
|
|
NM_052867.4(NALCN):c.2859C>T (p.Phe953=)
|
rs34033086
|
0.00816
|
|
NM_006772.3(SYNGAP1):c.84T>C (p.Ser28=)
|
rs142359891
|
0.00815
|
|
NM_000124.4(ERCC6):c.3922G>C (p.Val1308Leu)
|
rs2229761
|
0.00814
|
|
NM_017763.6(RNF43):c.1585C>T (p.Arg529Trp)
|
rs62636625
|
0.00813
|
|
NM_001148.6(ANK2):c.3379+12T>G
|
rs139528815
|
0.00812
|
|
NM_001009944.3(PKD1):c.6598C>T (p.Arg2200Cys)
|
rs140869992
|
0.00811
|
|
NM_003502.4(AXIN1):c.2522G>A (p.Arg841Gln)
|
rs34015754
|
0.00811
|
|
NM_198576.4(AGRN):c.738C>T (p.Asp246=)
|
rs536085218
|
0.00811
|
|
NM_006005.3(WFS1):c.1495C>T (p.Leu499Phe)
|
rs114152068
|
0.00810
|
|
NM_000059.4(BRCA2):c.8851G>A (p.Ala2951Thr)
|
rs11571769
|
0.00809
|
|
NM_021023.6(CFHR3):c.101T>G (p.Phe34Cys)
|
rs61737523
|
0.00809
|
|
NM_033409.4(SLC52A3):c.9C>T (p.Phe3=)
|
rs139486822
|
0.00809
|
|
NM_018136.5(ASPM):c.5185C>T (p.Arg1729Trp)
|
rs41299623
|
0.00808
|
|
NM_024589.3(ROGDI):c.433-15C>T
|
rs114103417
|
0.00806
|
|
NM_018100.4(EFHC1):c.1893C>T (p.Tyr631=)
|
rs35648306
|
0.00805
|
|
NM_000466.3(PEX1):c.1521G>C (p.Trp507Cys)
|
rs112822975
|
0.00803
|
|
NM_018979.4(WNK1):c.2020A>G (p.Thr674Ala)
|
rs11833299
|
0.00803
|
|
NM_002661.5(PLCG2):c.1712A>G (p.Asn571Ser)
|
rs75472618
|
0.00802
|
|
NM_004782.4(SNAP29):c.130T>C (p.Tyr44His)
|
rs116644127
|
0.00802
|
|
NM_007118.4(TRIO):c.7457_7468del (p.Trp2486_Pro2490delinsSer)
|
rs140308852
|
0.00802
|
|
NM_004621.6(TRPC6):c.2088C>T (p.Asn696=)
|
rs61739601
|
0.00801
|
|
NM_020812.4(DOCK6):c.3913C>T (p.Arg1305Cys)
|
rs112911897
|
0.00801
|
|
NM_020821.3(VPS13C):c.1929A>C (p.Ala643=)
|
rs115871350
|
0.00801
|
|
NM_001184880.2(PCDH19):c.2469G>A (p.Leu823=)
|
rs61744561
|
0.00798
|
|
NM_014762.4(DHCR24):c.360C>T (p.Asp120=)
|
rs61733134
|
0.00798
|
|
NM_001034853.2(RPGR):c.2057T>A (p.Met686Lys)
|
rs151247357
|
0.00794
|
|
NM_000059.4(BRCA2):c.3264T>C (p.Pro1088=)
|
rs36060526
|
0.00793
|
|
NM_006303.4(AIMP2):c.462G>T (p.Thr154=)
|
rs61735883
|
0.00791
|
|
NM_015213.4(DENND5A):c.36C>T (p.Pro12=)
|
rs76048646
|
0.00791
|
|
NM_001040142.2(SCN2A):c.1842G>T (p.Pro614=)
|
rs114315466
|
0.00790
|
|
NM_024514.5(CYP2R1):c.651T>C (p.Asn217=)
|
rs111576400
|
0.00790
|
|
NM_001171.6(ABCC6):c.2067C>T (p.Ile689=)
|
rs61266641
|
0.00789
|
|
NM_002439.5(MSH3):c.1567G>A (p.Glu523Lys)
|
rs34058399
|
0.00789
|
|
NM_004813.4(PEX16):c.*65T>C
|
rs16938413
|
0.00789
|
|
NM_018100.4(EFHC1):c.229C>A (p.Pro77Thr)
|
rs149055334
|
0.00789
|
|
NM_018136.5(ASPM):c.5206C>G (p.Gln1736Glu)
|
rs62623455
|
0.00788
|
|
NM_000334.4(SCN4A):c.1606+20G>A
|
rs73326363
|
0.00787
|
|
NM_032415.7(CARD11):c.1923G>A (p.Arg641=)
|
rs41405944
|
0.00786
|
|
NM_000483.5(APOC2):c.229A>C (p.Lys77Gln)
|
rs5126
|
0.00784
|
|
NM_001171.6(ABCC6):c.4254G>A (p.Arg1418=)
|
rs58668703
|
0.00784
|
|
NM_001197104.2(KMT2A):c.7689A>G (p.Ser2563=)
|
rs9332840
|
0.00784
|
|
NM_207361.6(FREM2):c.1518C>T (p.Ser506=)
|
rs141821695
|
0.00784
|
|
NM_025074.7(FRAS1):c.1710C>T (p.Pro570=)
|
rs17003124
|
0.00783
|
|
NM_001385012.1(NBEA):c.5985G>A (p.Glu1995=)
|
rs151318906
|
0.00782
|
|
NM_000093.5(COL5A1):c.5151C>T (p.Asp1717=)
|
rs61729558
|
0.00781
|
|
NM_002087.4(GRN):c.1544G>C (p.Gly515Ala)
|
rs25647
|
0.00781
|
|
NM_005491.5(MAMLD1):c.2284+8A>T
|
rs5970317
|
0.00781
|
|
NM_014915.3(ANKRD26):c.3655G>A (p.Val1219Ile)
|
rs146819984
|
0.00781
|
|
NM_022463.5(NXN):c.1000+13C>T
|
rs188195924
|
0.00781
|
|
NM_015330.6(SPECC1L):c.562C>T (p.Leu188Phe)
|
rs56168869
|
0.00780
|
|
NM_015629.4(PRPF31):c.420+7G>A
|
rs143717956
|
0.00780
|
|
NM_015662.3(IFT172):c.1338T>C (p.Asn446=)
|
rs61743327
|
0.00780
|
|
NM_018136.5(ASPM):c.7565T>G (p.Leu2522Ter)
|
rs62624965
|
0.00780
|
|
NM_018136.5(ASPM):c.2218A>T (p.Ile740Leu)
|
rs35203521
|
0.00779
|
|
NM_018136.5(ASPM):c.644A>C (p.Glu215Ala)
|
rs114695225
|
0.00779
|
|
NM_005592.4(MUSK):c.1991A>G (p.Asn664Ser)
|
rs55963442
|
0.00777
|
|
NM_004370.6(COL12A1):c.5508G>A (p.Thr1836=)
|
rs77425231
|
0.00776
|
|
NM_014363.6(SACS):c.8345C>T (p.Ala2782Val)
|
rs61742500
|
0.00776
|
|
NM_000083.3(CLCN1):c.26G>A (p.Arg9His)
|
rs115379077
|
0.00775
|
|
NM_001009944.3(PKD1):c.1710C>T (p.His570=)
|
rs367983387
|
0.00775
|
|
NM_014363.6(SACS):c.8344G>A (p.Ala2782Thr)
|
rs61742502
|
0.00775
|
|
NM_018136.5(ASPM):c.1451A>G (p.Asn484Ser)
|
rs114737609
|
0.00775
|
|
NM_001171.6(ABCC6):c.2707G>C (p.Glu903Gln)
|
rs60712230
|
0.00774
|
|
NM_018136.5(ASPM):c.10162-7T>A
|
rs141402675
|
0.00774
|
|
NM_018249.6(CDK5RAP2):c.1712T>C (p.Leu571Pro)
|
rs41296081
|
0.00774
|
|
NM_001111125.3(IQSEC2):c.737+10291G>A
|
rs189694247
|
0.00773
|
|
NM_004211.5(SLC6A5):c.342C>G (p.Pro114=)
|
rs61736605
|
0.00773
|
|
NM_030928.4(CDT1):c.1521G>A (p.Pro507=)
|
rs139633564
|
0.00773
|
|
NM_000301.5(PLG):c.1567C>T (p.Arg523Trp)
|
rs4252129
|
0.00772
|
|
NM_018417.6(ADCY10):c.4377C>T (p.Tyr1459=)
|
rs61745244
|
0.00772
|
|
NM_145038.5(DRC1):c.992C>T (p.Thr331Ile)
|
rs143181834
|
0.00771
|
|
NM_001018115.3(FANCD2):c.3105+15C>T
|
rs460965
|
0.00770
|
|
NM_003793.4(CTSF):c.1322-19G>A
|
rs73505406
|
0.00770
|
|
NM_178862.3(STT3B):c.1764C>T (p.Tyr588=)
|
rs34176522
|
0.00770
|
|
NM_000334.4(SCN4A):c.3720+9G>T
|
rs9303466
|
0.00769
|
|
NM_138694.4(PKHD1):c.4035C>A (p.Gly1345=)
|
rs140791735
|
0.00769
|
|
NM_003764.4(STX11):c.146G>A (p.Arg49Gln)
|
rs17073498
|
0.00767
|
|
NM_001173464.2(KIF21A):c.1628A>G (p.Lys543Arg)
|
rs149219011
|
0.00766
|
|
NM_014991.6(WDFY3):c.9094A>G (p.Ile3032Val)
|
rs17368018
|
0.00766
|
|
NM_198428.3(BBS9):c.2220G>A (p.Leu740=)
|
rs115809567
|
0.00765
|
|
NM_000078.3(CETP):c.460C>T (p.Arg154Trp)
|
rs34716057
|
0.00764
|
|
NM_004044.7(ATIC):c.1499G>A (p.Gly500Asp)
|
rs76414987
|
0.00763
|
|
NM_004273.5(CHST3):c.1173C>A (p.Ile391=)
|
rs115579748
|
0.00763
|
|
NM_153460.4(IL17RC):c.1522+1G>C
|
rs148575246
|
0.00763
|
|
NM_007347.5(AP4E1):c.542+11T>G
|
rs58882998
|
0.00762
|
|
NM_018417.6(ADCY10):c.4752T>C (p.Ile1584=)
|
rs59725214
|
0.00762
|
|
NM_004519.4(KCNQ3):c.1551C>T (p.Ala517=)
|
rs35538317
|
0.00761
|
|
NM_006005.3(WFS1):c.2611G>A (p.Val871Met)
|
rs71532874
|
0.00761
|
|
NM_001127255.2(NLRP7):c.467G>A (p.Arg156Gln)
|
rs61746625
|
0.00759
|
|
NM_003793.4(CTSF):c.1368C>T (p.Asp456=)
|
rs148155987
|
0.00759
|
|
NM_003793.4(CTSF):c.939G>A (p.Gly313=)
|
rs114727660
|
0.00758
|
|
NM_001286611.2(REPS1):c.1789C>T (p.Pro597Ser)
|
rs142256155
|
0.00757
|
|
NM_000435.3(NOTCH3):c.1490C>T (p.Ser497Leu)
|
rs114207045
|
0.00755
|
|
NM_018136.5(ASPM):c.9773A>G (p.His3258Arg)
|
rs7528827
|
0.00754
|
|
NM_144988.4(ALG14):c.31G>A (p.Ala11Thr)
|
rs34364382
|
0.00753
|
|
NM_000065.5(C6):c.2087A>G (p.Asp696Gly)
|
rs41271067
|
0.00752
|
|
NM_015702.3(MMADHC):c.87A>C (p.Lys29Asn)
|
rs61750442
|
0.00751
|
|
NM_006031.6(PCNT):c.8065-19G>A
|
rs78561636
|
0.00750
|
|
NM_173630.4(RTTN):c.32-3C>T
|
rs75577820
|
0.00750
|
|
NM_000548.5(TSC2):c.1543C>T (p.Leu515=)
|
rs35896166
|
0.00749
|
|
NM_001142864.4(PIEZO1):c.5195C>T (p.Thr1732Met)
|
rs139051768
|
0.00749
|
|
NM_005502.4(ABCA1):c.2961-10C>T
|
rs78329992
|
0.00749
|
|
NM_000444.6(PHEX):c.489A>G (p.Ser163=)
|
rs140231382
|
0.00748
|
|
NM_000316.3(PTH1R):c.1395+15G>A
|
rs151077141
|
0.00747
|
|
NM_001942.4(DSG1):c.2216T>C (p.Ile739Thr)
|
rs117656447
|
0.00747
|
|
NM_005045.4(RELN):c.6343G>A (p.Gly2115Ser)
|
rs116716038
|
0.00747
|
|
NM_006734.4(HIVEP2):c.5397C>T (p.Tyr1799=)
|
rs61729356
|
0.00746
|
|
NM_006766.5(KAT6A):c.4324G>A (p.Ala1442Thr)
|
rs113195648
|
0.00745
|
|
NM_173630.4(RTTN):c.5745+13G>T
|
rs144392822
|
0.00745
|
|
NM_001042492.3(NF1):c.7322-17C>T
|
rs17884859
|
0.00744
|
|
NM_000215.4(JAK3):c.2164G>A (p.Val722Ile)
|
rs3213409
|
0.00743
|
|
NM_000304.4(PMP22):c.396C>T (p.Tyr132=)
|
rs74361095
|
0.00743
|
|
NM_001715.3(BLK):c.102C>T (p.Asp34=)
|
rs75383960
|
0.00743
|
|
NM_002900.3(RBP3):c.1503C>T (p.Ala501=)
|
rs34700898
|
0.00743
|
|
NM_003638.3(ITGA8):c.2977A>G (p.Ile993Val)
|
rs9333241
|
0.00743
|
|
NM_004006.3(DMD):c.3603+8A>G
|
rs193249735
|
0.00743
|
|
NM_024079.5(ALG8):c.175-18C>A
|
rs73501260
|
0.00743
|
|
NM_001349253.2(SCN11A):c.3819A>G (p.Glu1273=)
|
rs148945365
|
0.00741
|
|
NM_206933.4(USH2A):c.11048-15C>T
|
rs74141403
|
0.00740
|
|
NM_001256071.3(RNF213):c.10443G>A (p.Ala3481=)
|
rs116677277
|
0.00739
|
|
NM_001277115.2(DNAH11):c.8188G>T (p.Gly2730Cys)
|
rs28549882
|
0.00739
|
|
NM_005327.7(HADH):c.881A>G (p.Asn294Ser)
|
rs36030668
|
0.00738
|
|
NM_024685.4(BBS10):c.424G>A (p.Asp142Asn)
|
rs142863601
|
0.00738
|
|
NM_022463.5(NXN):c.543C>T (p.Asn181=)
|
rs113173467
|
0.00737
|
|
NM_001365480.1(CCDC88A):c.403-7A>G
|
rs41281505
|
0.00736
|
|
NM_002473.6(MYH9):c.1729-6C>T
|
rs9622375
|
0.00736
|
|
NM_004525.3(LRP2):c.10403C>T (p.Pro3468Leu)
|
rs143367996
|
0.00734
|
|
NM_024408.4(NOTCH2):c.4311C>T (p.Gly1437=)
|
rs34561092
|
0.00733
|
|
NM_000789.4(ACE):c.1060G>A (p.Gly354Arg)
|
rs56394458
|
0.00732
|
|
NM_001083603.1(PTCH1):c.131A>G (p.Glu44Gly)
|
rs202111971
|
0.00732
|
|
NM_001110556.2(FLNA):c.3690C>T (p.Thr1230=)
|
rs35015603
|
0.00732
|
|
NM_005157.6(ABL1):c.1899C>T (p.Ala633=)
|
rs2229068
|
0.00732
|
|
NM_017831.4(RNF125):c.489G>A (p.Ser163=)
|
rs79205763
|
0.00732
|
|
NM_031443.4(CCM2):c.984G>A (p.Gly328=)
|
rs112504276
|
0.00732
|
|
NM_001142864.4(PIEZO1):c.5552C>T (p.Thr1851Met)
|
rs34370460
|
0.00731
|
|
NM_012479.4(YWHAG):c.726C>T (p.Gly242=)
|
rs73703133
|
0.00731
|
|
NM_001101362.3(KBTBD13):c.246G>C (p.Val82=)
|
rs115182478
|
0.00729
|
|
NM_000170.3(GLDC):c.2380G>A (p.Ala794Thr)
|
rs141933811
|
0.00728
|
|
NM_001374828.1(ARID1B):c.5576A>C (p.Glu1859Ala)
|
rs149518409
|
0.00727
|
|
NM_002506.3(NGF):c.214G>A (p.Val72Met)
|
rs11466110
|
0.00727
|
|
NM_001080449.3(DNA2):c.1649A>G (p.Asn550Ser)
|
rs141731085
|
0.00726
|
|
NM_003500.4(ACOX2):c.475+18C>T
|
rs138268845
|
0.00726
|
|
NM_001039569.2(AP1S3):c.97C>T (p.Arg33Trp)
|
rs138292988
|
0.00725
|
|
NM_001358921.2(COQ2):c.957C>T (p.Tyr319=)
|
rs141431344
|
0.00725
|
|
NM_002472.3(MYH8):c.3686T>C (p.Met1229Thr)
|
rs35962914
|
0.00723
|
|
NM_003638.3(ITGA8):c.2803G>A (p.Ala935Thr)
|
rs77037561
|
0.00722
|
|
NM_014804.3(KIAA0753):c.1756A>G (p.Lys586Glu)
|
rs61735441
|
0.00722
|
|
NM_018417.6(ADCY10):c.3720T>C (p.Asn1240=)
|
rs61738760
|
0.00721
|
|
NM_024312.5(GNPTAB):c.3197C>T (p.Thr1066Met)
|
rs34083392
|
0.00720
|
|
NM_001080442.3(SLC38A8):c.190-8C>T
|
rs1876961
|
0.00719
|
|
NM_001384732.1(CPLANE1):c.8344C>A (p.Pro2782Thr)
|
rs77014998
|
0.00719
|
|
NM_032861.4(SERAC1):c.1684+168T>C
|
rs141960153
|
0.00719
|
|
NM_032861.4(SERAC1):c.1684+209T>C
|
rs148162521
|
0.00718
|
|
NM_001365999.1(SZT2):c.2631C>T (p.Thr877=)
|
rs140831372
|
0.00717
|
|
NM_001849.4(COL6A2):c.316G>A (p.Glu106Lys)
|
rs141703710
|
0.00717
|
|
NM_198578.4(LRRK2):c.3784C>G (p.Pro1262Ala)
|
rs4640000
|
0.00717
|
|
NM_001145358.2(SIN3A):c.3466A>T (p.Met1156Leu)
|
rs60213317
|
0.00716
|
|
NM_001282933.2(ZNF341):c.340-20C>G
|
rs142373708
|
0.00712
|
|
NM_033343.4(LHX4):c.384C>T (p.Asp128=)
|
rs141139762
|
0.00712
|
|
NM_145068.4(TRPV3):c.2321C>T (p.Thr774Ile)
|
rs7212634
|
0.00712
|
|
NM_002485.5(NBN):c.1489A>G (p.Thr497Ala)
|
rs3026268
|
0.00711
|
|
NM_012082.4(ZFPM2):c.40+12C>G
|
rs149902904
|
0.00711
|
|
NM_017947.4(MOCOS):c.981G>A (p.Ala327=)
|
rs35497696
|
0.00711
|
|
NM_145020.5(CFAP53):c.305G>A (p.Arg102His)
|
rs76722120
|
0.00711
|
|
NM_144639.3(UROC1):c.132G>A (p.Ala44=)
|
rs146351941
|
0.00710
|
|
NM_173076.3(ABCA12):c.1765C>A (p.Pro589Thr)
|
rs148979792
|
0.00710
|
|
NM_003701.4(TNFSF11):c.239C>T (p.Ser80Leu)
|
rs138974661
|
0.00709
|
|
NM_133497.4(KCNV2):c.1083A>G (p.Gln361=)
|
rs142744007
|
0.00709
|
|
NM_173354.5(SIK1):c.2087C>T (p.Pro696Leu)
|
rs56386767
|
0.00709
|
|
NM_001356.5(DDX3X):c.104-10A>T
|
rs112766093
|
0.00708
|
|
NM_181507.2(HPS5):c.2441-8T>C
|
rs144196437
|
0.00708
|
|
NM_007294.4(BRCA1):c.1971A>G (p.Gln657=)
|
rs28897679
|
0.00707
|
|
NM_031220.4(PITPNM3):c.699C>T (p.Val233=)
|
rs149964592
|
0.00707
|
|
NM_002691.4(POLD1):c.88C>T (p.Arg30Trp)
|
rs3218772
|
0.00706
|
|
NM_001009944.3(PKD1):c.11523C>T (p.Asn3841=)
|
rs113369380
|
0.00705
|
|
NM_013339.4(ALG6):c.751A>G (p.Thr251Ala)
|
rs61755863
|
0.00705
|
|
NM_001105247.2(ARMC5):c.466C>T (p.Leu156Phe)
|
rs114930262
|
0.00704
|
|
NM_021224.6(ZNF462):c.5984A>G (p.Asn1995Ser)
|
rs74505324
|
0.00704
|
|
NM_025114.4(CEP290):c.1624-5T>C
|
rs142742071
|
0.00704
|
|
NM_000345.4(SNCA):c.*139T>G
|
rs10024743
|
0.00703
|
|
NM_001101426.4(CRPPA):c.947C>A (p.Thr316Lys)
|
rs114363936
|
0.00703
|
|
NM_004369.4(COL6A3):c.5059C>T (p.Pro1687Ser)
|
rs35273032
|
0.00703
|
|
NM_003042.4(SLC6A1):c.960C>T (p.Ser320=)
|
rs35972647
|
0.00702
|
|
NM_004519.4(KCNQ3):c.2306C>A (p.Pro769His)
|
rs114095081
|
0.00702
|
|
NM_153026.3(PRICKLE1):c.2236C>T (p.Pro746Ser)
|
rs3827522
|
0.00701
|
|
NM_001105247.2(ARMC5):c.729C>T (p.Ala243=)
|
rs114871627
|
0.00700
|
|
NM_006939.4(SOS2):c.3489+19C>T
|
rs149825446
|
0.00700
|
|
NM_001384140.1(PCDH15):c.4024C>A (p.Gln1342Lys)
|
rs61731387
|
0.00699
|
|
NM_018027.5(FRMD4A):c.705G>A (p.Leu235=)
|
rs61755072
|
0.00698
|
|
NM_170665.4(ATP2A2):c.-10C>G
|
rs201929640
|
0.00698
|
|
NM_198576.4(AGRN):c.1603+19G>A
|
rs115191992
|
0.00697
|
|
NM_170665.4(ATP2A2):c.327A>G (p.Glu109=)
|
rs55984131
|
0.00696
|
|
NM_001039.4(SCNN1G):c.435C>T (p.Ser145=)
|
rs62639702
|
0.00695
|
|
NM_173551.5(ANKS6):c.862+20G>A
|
rs115965425
|
0.00695
|
|
NM_004541.4(NDUFA1):c.94G>C (p.Gly32Arg)
|
rs1801316
|
0.00694
|
|
NM_031407.7(HUWE1):c.963+18T>C
|
rs145428690
|
0.00694
|
|
NM_014314.4(RIGI):c.734A>G (p.Asn245Ser)
|
rs141808660
|
0.00693
|
|
NM_019108.4(SMG9):c.1154G>A (p.Arg385Gln)
|
rs73935066
|
0.00693
|
|
NM_212482.4(FN1):c.3189C>T (p.Thr1063=)
|
rs78262627
|
0.00693
|
|
NM_000540.3(RYR1):c.6498C>T (p.Leu2166=)
|
rs151313865
|
0.00691
|
|
NM_006486.3(FBLN1):c.1690G>A (p.Ala564Thr)
|
rs142867241
|
0.00691
|
|
NM_017721.5(CC2D1A):c.566C>T (p.Ala189Val)
|
rs61740117
|
0.00691
|
|
NM_003002.4(SDHD):c.312C>T (p.His104=)
|
rs61734352
|
0.00690
|
|
NM_177965.4(CFAP418):c.243+20T>C
|
rs10107484
|
0.00690
|
|
NM_015559.3(SETBP1):c.3618T>C (p.His1206=)
|
rs34882016
|
0.00689
|
|
NM_020366.4(RPGRIP1):c.3447C>T (p.Tyr1149=)
|
rs35592908
|
0.00689
|
|
NM_007262.5(PARK7):c.293G>A (p.Arg98Gln)
|
rs71653619
|
0.00688
|
|
NM_170665.4(ATP2A2):c.1096-16C>T
|
rs56253731
|
0.00688
|
|
NM_173689.7(CRB2):c.1828C>T (p.Arg610Trp)
|
rs145286619
|
0.00688
|
|
NM_000483.5(APOC2):c.-2C>T
|
rs5121
|
0.00686
|
|
NM_000815.5(GABRD):c.1202C>T (p.Thr401Met)
|
rs116604393
|
0.00685
|
|
NM_001164665.2(KIAA1549):c.4716C>T (p.Ile1572=)
|
rs28523576
|
0.00683
|
|
NM_003126.4(SPTA1):c.441C>T (p.Thr147=)
|
rs73020287
|
0.00683
|
|
NM_001161352.2(KCNMA1):c.1749+11G>A
|
rs116546993
|
0.00682
|
|
NM_001197104.2(KMT2A):c.4218+20A>G
|
rs9332798
|
0.00681
|
|
NM_004273.5(CHST3):c.108C>G (p.Val36=)
|
rs77124584
|
0.00681
|
|
NM_022089.4(ATP13A2):c.145G>A (p.Gly49Ser)
|
rs56379718
|
0.00681
|
|
NM_138694.4(PKHD1):c.2027C>G (p.Pro676Arg)
|
rs115045643
|
0.00681
|
|
NM_000337.6(SGCD):c.507G>A (p.Ala169=)
|
rs10071079
|
0.00680
|
|
NM_000516.7(GNAS):c.951C>T (p.Arg317=)
|
rs75561530
|
0.00680
|
|
NM_000264.5(PTCH1):c.2183C>T (p.Thr728Met)
|
rs115556836
|
0.00678
|
|
NM_000287.4(PEX6):c.210G>A (p.Gly70=)
|
rs398123304
|
0.00678
|
|
NM_020117.11(LARS1):c.2212+13T>C
|
rs114726414
|
0.00678
|
|
NM_000264.5(PTCH1):c.1119C>T (p.Tyr373=)
|
rs2066831
|
0.00677
|
|
NM_015102.5(NPHP4):c.1542G>A (p.Pro514=)
|
rs35264155
|
0.00677
|
|
NM_001080449.3(DNA2):c.295T>C (p.Leu99=)
|
rs140077857
|
0.00675
|
|
NM_152743.4(BRAT1):c.962T>G (p.Leu321Arg)
|
rs150942467
|
0.00675
|
|
NM_000153.4(GALC):c.1302C>T (p.Ser434=)
|
rs3213918
|
0.00674
|
|
NM_000264.5(PTCH1):c.1074T>C (p.His358=)
|
rs2066832
|
0.00674
|
|
NM_000306.4(POU1F1):c.666-5G>A
|
rs76296626
|
0.00674
|
|
NM_001372066.1(TFAP2A):c.826T>C (p.Leu276=)
|
rs35008125
|
0.00674
|
|
NM_017570.5(OPLAH):c.3720+8C>T
|
rs374770909
|
0.00674
|
|
NM_001385012.1(NBEA):c.5081G>A (p.Ser1694Asn)
|
rs73505630
|
0.00672
|
|
NM_006005.3(WFS1):c.2335G>A (p.Val779Met)
|
rs141328044
|
0.00672
|
|
NM_017827.4(SARS2):c.273G>A (p.Ser91=)
|
rs144229840
|
0.00672
|
|
NM_006080.3(SEMA3A):c.1000A>G (p.Ile334Val)
|
rs138694505
|
0.00671
|
|
NM_020822.3(KCNT1):c.3312G>A (p.Leu1104=)
|
rs149416418
|
0.00671
|
|
NM_024996.7(GFM1):c.2071-17A>G
|
rs76679758
|
0.00671
|
|
NM_000210.4(ITGA6):c.3222G>A (p.Ter1074=)
|
rs16860616
|
0.00670
|
|
NM_002691.4(POLD1):c.2546G>A (p.Arg849His)
|
rs3218775
|
0.00670
|
|
NM_004629.2(FANCG):c.988C>T (p.Pro330Ser)
|
rs4986940
|
0.00670
|
|
NM_018993.4(RIN2):c.84C>T (p.Ile28=)
|
rs181853315
|
0.00670
|
|
NM_000081.4(LYST):c.5945C>T (p.Thr1982Ile)
|
rs146591126
|
0.00669
|
|
NM_000210.4(ITGA6):c.2820G>A (p.Pro940=)
|
rs34599583
|
0.00669
|
|
NM_000789.4(ACE):c.2382G>A (p.Ala794=)
|
rs61738817
|
0.00669
|
|
NM_015634.4(KIFBP):c.68A>G (p.Glu23Gly)
|
rs148768851
|
0.00669
|
|
NM_152722.5(HEPACAM):c.258G>A (p.Glu86=)
|
rs35466065
|
0.00669
|
|
NM_021098.3(CACNA1H):c.2631C>T (p.Asp877=)
|
rs59636120
|
0.00667
|
|
NM_001014437.3(CARS1):c.1663G>A (p.Ala555Thr)
|
rs61737267
|
0.00665
|
|
NM_001369268.1(ACAN):c.1469C>T (p.Ser490Leu)
|
rs117116488
|
0.00664
|
|
NM_025077.4(TOE1):c.1176G>A (p.Leu392=)
|
rs149142910
|
0.00664
|
|
NM_004722.4(AP4M1):c.228C>T (p.Pro76=)
|
rs41280965
|
0.00663
|
|
NM_002894.3(RBBP8):c.736C>G (p.Pro246Ala)
|
rs34372414
|
0.00661
|
|
NM_014254.3(RXYLT1):c.1226A>G (p.Glu409Gly)
|
rs141536395
|
0.00659
|
|
NM_153240.5(NPHP3):c.3941G>C (p.Ser1314Thr)
|
rs75316802
|
0.00658
|
|
NM_000292.3(PHKA2):c.2077A>G (p.Ile693Val)
|
rs143732206
|
0.00657
|
|
NM_001374385.1(ATP8B1):c.134A>C (p.Asn45Thr)
|
rs146599962
|
0.00657
|
|
NM_005529.7(HSPG2):c.5755C>T (p.Arg1919Cys)
|
rs2229474
|
0.00657
|
|
NM_004722.4(AP4M1):c.1002C>T (p.Leu334=)
|
rs140843407
|
0.00656
|
|
NM_018136.5(ASPM):c.3741+3A>G
|
rs138558822
|
0.00656
|
|
NM_000059.3(BRCA2):c.5704G>A (p.Asp1902Asn)
|
rs4987048
|
0.00655
|
|
NM_001558.4(IL10RA):c.337G>A (p.Val113Ile)
|
rs4252303
|
0.00655
|
|
NM_004327.4(BCR):c.606C>T (p.Ser202=)
|
rs147507158
|
0.00655
|
|
NM_001844.5(COL2A1):c.2160C>A (p.Gly720=)
|
rs145704340
|
0.00654
|
|
NM_018489.3(ASH1L):c.2330G>A (p.Arg777His)
|
rs74353643
|
0.00654
|
|
NM_004153.4(ORC1):c.806C>T (p.Ser269Leu)
|
rs61753390
|
0.00653
|
|
NM_020745.4(AARS2):c.1752G>A (p.Glu584=)
|
rs78525157
|
0.00653
|
|
NM_138348.6(OTULIN):c.230-15T>A
|
rs201861710
|
0.00653
|
|
NM_152743.4(BRAT1):c.993G>A (p.Thr331=)
|
rs76646873
|
0.00653
|
|
NM_000341.4(SLC3A1):c.892-6C>G
|
rs114640930
|
0.00651
|
|
NM_004044.7(ATIC):c.1494C>G (p.Thr498=)
|
rs116255553
|
0.00651
|
|
NM_001013838.3(CARMIL2):c.3221+20T>C
|
rs56088143
|
0.00650
|
|
NM_001909.5(CTSD):c.844G>A (p.Gly282Arg)
|
rs147278302
|
0.00650
|
|
NM_006514.4(SCN10A):c.3087+15C>T
|
rs140924179
|
0.00650
|
|
NM_004655.4(AXIN2):c.2282C>A (p.Ala761Asp)
|
rs79732150
|
0.00649
|
|
NM_005045.4(RELN):c.9524A>C (p.His3175Pro)
|
rs74513461
|
0.00648
|
|
NM_006031.6(PCNT):c.8924T>C (p.Leu2975Pro)
|
rs35881595
|
0.00647
|
|
NM_198075.4(LRRC56):c.544C>A (p.Gln182Lys)
|
rs61736743
|
0.00647
|
|
NM_000204.5(CFI):c.1206C>T (p.Pro402=)
|
rs115780371
|
0.00646
|
|
NM_001278064.2(GRM1):c.3214C>G (p.Pro1072Ala)
|
rs146753539
|
0.00646
|
|
NM_001605.3(AARS1):c.1404C>T (p.Tyr468=)
|
rs117598688
|
0.00646
|
|
NM_001145358.2(SIN3A):c.1428T>C (p.Ser476=)
|
rs58376508
|
0.00645
|
|
NM_001029896.2(WDR45):c.838G>A (p.Val280Met)
|
rs149509552
|
0.00644
|
|
NM_001170535.3(ATAD3A):c.1215-6T>C
|
rs112869160
|
0.00644
|
|
NM_001845.6(COL4A1):c.1121-18G>A
|
rs139885514
|
0.00644
|
|
NM_001099922.3(ALG13):c.1152G>A (p.Ala384=)
|
rs145353928
|
0.00643
|
|
NM_001267550.2(TTN):c.53288-18G>T
|
rs72646810
|
0.00643
|
|
NM_006302.3(MOGS):c.1838G>A (p.Arg613Gln)
|
rs142032474
|
0.00643
|
|
NM_001009944.3(PKD1):c.8440G>A (p.Gly2814Arg)
|
rs149151043
|
0.00642
|
|
NM_000245.4(MET):c.948A>G (p.Ile316Met)
|
rs35225896
|
0.00641
|
|
NM_001122955.4(BSCL2):c.1234+20G>A
|
rs113229350
|
0.00638
|
|
NM_030632.3(ASXL3):c.3324T>G (p.Ala1108=)
|
rs77617474
|
0.00638
|
|
NM_003611.3(OFD1):c.714T>C (p.Tyr238=)
|
rs139848884
|
0.00637
|
|
NM_000051.4(ATM):c.3383A>G (p.Gln1128Arg)
|
rs2229020
|
0.00636
|
|
NM_002206.3(ITGA7):c.1609C>T (p.Arg537Trp)
|
rs61733050
|
0.00636
|
|
NM_002968.3(SALL1):c.3222G>A (p.Ala1074=)
|
rs61731131
|
0.00636
|
|
NM_004998.4(MYO1E):c.1617-12C>G
|
rs192317472
|
0.00636
|
|
NM_175875.5(SIX5):c.375G>C (p.Pro125=)
|
rs147268086
|
0.00636
|
|
NM_000426.4(LAMA2):c.8774C>T (p.Pro2925Leu)
|
rs77113162
|
0.00635
|
|
NM_001384732.1(CPLANE1):c.4134T>C (p.Pro1378=)
|
rs79935028
|
0.00635
|
|
NM_015559.3(SETBP1):c.1491G>A (p.Pro497=)
|
rs113053616
|
0.00634
|
|
NM_030665.4(RAI1):c.1044C>T (p.Arg348=)
|
rs142316059
|
0.00634
|
|
NM_198994.3(TGM6):c.1656C>T (p.Ala552=)
|
rs75601099
|
0.00634
|
|
NM_016373.4(WWOX):c.107+252C>T
|
rs58108921
|
0.00633
|
|
NM_152419.3(HGSNAT):c.1693G>C (p.Gly565Arg)
|
rs148632988
|
0.00633
|
|
NM_022662.4(ANAPC1):c.681T>C (p.Ser227=)
|
rs145229082
|
0.00632
|
|
NM_004447.6(EPS8):c.104A>G (p.His35Arg)
|
rs71532816
|
0.00631
|
|
NM_024665.7(TBL1XR1):c.669A>G (p.Pro223=)
|
rs61750378
|
0.00631
|
|
NM_032634.4(PIGO):c.1120-15C>A
|
rs77344591
|
0.00631
|
|
NM_033056.4(PCDH15):c.4850A>G (p.Asn1617Ser)
|
rs111033362
|
0.00631
|
|
NM_207361.6(FREM2):c.5264-19T>G
|
rs112155555
|
0.00631
|
|
NM_194248.3(OTOF):c.145C>T (p.Arg49Trp)
|
rs61746568
|
0.00630
|
|
NM_000789.4(ACE):c.231G>A (p.Ala77=)
|
rs184457276
|
0.00629
|
|
NM_000651.6(CR1):c.5811-11C>A
|
rs115988205
|
0.00628
|
|
NM_001080467.3(MYO5B):c.3432G>A (p.Thr1144=)
|
rs61737443
|
0.00628
|
|
NM_031220.4(PITPNM3):c.541G>A (p.Val181Ile)
|
rs61755430
|
0.00628
|
|
NM_000282.4(PCCA):c.1846-9G>T
|
rs141118743
|
0.00627
|
|
NM_001080414.4(CCDC88C):c.4433T>C (p.Val1478Ala)
|
rs201222692
|
0.00627
|
|
NM_020738.4(KIDINS220):c.2568C>T (p.Leu856=)
|
rs61742927
|
0.00627
|
|
NM_014243.3(ADAMTS3):c.661+7G>A
|
rs72852050
|
0.00624
|
|
NM_033026.6(PCLO):c.6174A>G (p.Leu2058=)
|
rs147497968
|
0.00623
|
|
NM_172364.5(CACNA2D4):c.3065C>T (p.Pro1022Leu)
|
rs61741336
|
0.00623
|
|
NM_015166.4(MLC1):c.932T>A (p.Val311Glu)
|
rs141225099
|
0.00622
|
|
NM_015690.5(STK36):c.2518T>G (p.Leu840Val)
|
rs36099639
|
0.00622
|
|
NM_004562.3(PRKN):c.136G>A (p.Ala46Thr)
|
rs75860381
|
0.00621
|
|
NM_170606.3(KMT2C):c.162-17T>A
|
rs187902675
|
0.00620
|
|
NM_000214.3(JAG1):c.2459-17A>C
|
rs35891274
|
0.00618
|
|
NM_004415.4(DSP):c.1481A>T (p.Tyr494Phe)
|
rs28763961
|
0.00618
|
|
NM_014845.6(FIG4):c.447-16G>T
|
rs200890189
|
0.00618
|
|
NM_025243.4(SLC19A3):c.309G>A (p.Val103=)
|
rs142837989
|
0.00618
|
|
NM_006180.6(NTRK2):c.2113C>T (p.Leu705=)
|
rs75380746
|
0.00617
|
|
NM_006267.5(RANBP2):c.1087C>T (p.Arg363Cys)
|
rs149207118
|
0.00617
|
|
NM_201384.3(PLEC):c.13110C>T (p.Ala4370=)
|
rs187810163
|
0.00617
|
|
NM_000207.3(INS):c.188-16C>T
|
rs5507
|
0.00616
|
|
NM_033305.3(VPS13A):c.9400-15A>C
|
rs117688596
|
0.00615
|
|
NM_020949.3(SLC7A14):c.2164G>A (p.Gly722Arg)
|
rs144541220
|
0.00614
|
|
NM_013382.7(POMT2):c.1183+14A>G
|
rs80099135
|
0.00613
|
|
NM_015215.4(CAMTA1):c.2730A>G (p.Ser910=)
|
rs6674962
|
0.00613
|
|
NM_001379451.1(BCORL1):c.516T>C (p.Asn172=)
|
rs36043572
|
0.00612
|
|
NM_032444.4(SLX4):c.90C>T (p.Ser30=)
|
rs118089506
|
0.00612
|
|
NM_138501.6(TECR):c.16-15G>A
|
rs113855270
|
0.00612
|
|
NM_197947.3(CLEC7A):c.397C>T (p.Leu133=)
|
rs144190589
|
0.00612
|
|
NM_004371.4(COPA):c.1076+13T>A
|
rs149521115
|
0.00611
|
|
NM_022042.4(SLC26A1):c.534C>T (p.Ile178=)
|
rs36095812
|
0.00611
|
|
NM_017662.5(TRPM6):c.4569A>T (p.Thr1523=)
|
rs150409948
|
0.00610
|
|
NM_021098.3(CACNA1H):c.6273C>T (p.Ala2091=)
|
rs59297244
|
0.00610
|
|
NM_000059.4(BRCA2):c.4258G>T (p.Asp1420Tyr)
|
rs28897727
|
0.00609
|
|
NM_000516.7(GNAS):c.384G>A (p.Val128=)
|
rs3730166
|
0.00609
|
|
NM_019613.4(WDR45B):c.942C>T (p.Asp314=)
|
rs147083174
|
0.00609
|
|
NM_022041.4(GAN):c.1239C>T (p.Ile413=)
|
rs61740238
|
0.00609
|
|
NM_000255.4(MMUT):c.1333-18T>G
|
rs111667453
|
0.00608
|
|
NM_001017974.2(P4HA2):c.226G>T (p.Ala76Ser)
|
rs61739875
|
0.00608
|
|
NM_030957.4(ADAMTS10):c.2403+4A>G
|
rs187565033
|
0.00608
|
|
NM_005105.5(RBM8A):c.68-6T>C
|
rs112273321
|
0.00607
|
|
NM_206933.4(USH2A):c.9262G>A (p.Glu3088Lys)
|
rs56056328
|
0.00606
|
|
NM_000518.5(HBB):c.-273T>C
|
rs139703273
|
0.00604
|
|
NM_001289104.2(PRKCSH):c.351-5C>T
|
rs76485217
|
0.00604
|
|
NM_004369.4(COL6A3):c.4183C>T (p.Arg1395Trp)
|
rs73998894
|
0.00603
|
|
NM_201384.3(PLEC):c.2961C>T (p.Ser987=)
|
rs149932255
|
0.00603
|
|
NM_001080414.4(CCDC88C):c.5183T>C (p.Phe1728Ser)
|
rs7145583
|
0.00602
|
|
NM_015046.7(SETX):c.59G>A (p.Arg20His)
|
rs79740039
|
0.00602
|
|
NM_182961.4(SYNE1):c.15313G>A (p.Asp5105Asn)
|
rs35493783
|
0.00602
|
|
NM_000540.3(RYR1):c.13502C>T (p.Pro4501Leu)
|
rs73933023
|
0.00601
|
|
NM_003611.3(OFD1):c.2929-18C>T
|
rs180940027
|
0.00601
|
|
NM_006445.4(PRPF8):c.5469C>T (p.His1823=)
|
rs115404141
|
0.00600
|
|
NM_001277115.2(DNAH11):c.3105G>A (p.Glu1035=)
|
rs191011620
|
0.00599
|
|
NM_007055.4(POLR3A):c.2938A>G (p.Ile980Val)
|
rs146253630
|
0.00599
|
|
NM_001365999.1(SZT2):c.4701G>A (p.Leu1567=)
|
rs111932993
|
0.00598
|
|
NM_152743.4(BRAT1):c.866G>C (p.Cys289Ser)
|
rs140451075
|
0.00598
|
|
NM_000143.4(FH):c.53C>T (p.Pro18Leu)
|
rs201887750
|
0.00597
|
|
NM_004560.4(ROR2):c.717C>T (p.Cys239=)
|
rs56302651
|
0.00597
|
|
NM_000512.5(GALNS):c.1438G>T (p.Val480Phe)
|
rs151296605
|
0.00596
|
|
NM_002764.4(PRPS1):c.477C>T (p.Ile159=)
|
rs61752962
|
0.00596
|
|
NM_014855.3(AP5Z1):c.791-5C>T
|
rs73671921
|
0.00595
|
|
NM_032951.3(MLXIPL):c.1096T>C (p.Leu366=)
|
rs190197045
|
0.00595
|
|
NM_025129.5(FUZ):c.405C>T (p.Ile135=)
|
rs35499921
|
0.00594
|
|
NM_031407.7(HUWE1):c.10551G>T (p.Leu3517=)
|
rs61730217
|
0.00593
|
|
NM_025074.7(FRAS1):c.9806G>A (p.Arg3269Gln)
|
rs61729366
|
0.00592
|
|
NM_020223.4(FAM20C):c.1228T>A (p.Ser410Thr)
|
rs148276213
|
0.00591
|
|
NM_182961.4(SYNE1):c.4757C>A (p.Thr1586Lys)
|
rs77675624
|
0.00591
|
|
NM_000693.4(ALDH1A3):c.43A>G (p.Arg15Gly)
|
rs1130737
|
0.00590
|
|
NM_006904.7(PRKDC):c.11805C>T (p.Gly3935=)
|
rs8178249
|
0.00590
|
|
NM_031407.7(HUWE1):c.6030+20G>A
|
rs144140925
|
0.00590
|
|
NM_000760.4(CSF3R):c.2422G>A (p.Glu808Lys)
|
rs146617729
|
0.00588
|
|
NM_012473.4(TXN2):c.294G>A (p.Pro98=)
|
rs150502647
|
0.00588
|
|
NM_001352514.2(HLCS):c.726C>T (p.Pro242=)
|
rs2230182
|
0.00587
|
|
NM_004415.4(DSP):c.105G>A (p.Gly35=)
|
rs77445784
|
0.00587
|
|
NM_017780.4(CHD7):c.309G>A (p.Ser103=)
|
rs115293759
|
0.00586
|
|
NM_020806.5(GPHN):c.800A>G (p.Asn267Ser)
|
rs41285470
|
0.00586
|
|
NM_004268.5(MED17):c.251-8C>T
|
rs148912294
|
0.00585
|
|
NM_153704.6(TMEM67):c.506+18G>T
|
rs116705535
|
0.00585
|
|
NM_000516.7(GNAS):c.366C>T (p.Pro122=)
|
rs35287986
|
0.00583
|
|
NM_001084.5(PLOD3):c.1144G>C (p.Asp382His)
|
rs41281013
|
0.00583
|
|
NM_005994.4(TBX2):c.1212G>A (p.Arg404=)
|
rs140610908
|
0.00582
|
|
NM_006846.4(SPINK5):c.802C>T (p.Arg268Cys)
|
rs142558269
|
0.00581
|
|
NM_000170.3(GLDC):c.871T>G (p.Cys291Gly)
|
rs141014950
|
0.00580
|
|
NM_001013703.4(EIF2AK4):c.1660+12A>T
|
rs55851223
|
0.00580
|
|
NM_001378454.1(ALMS1):c.3193T>C (p.Ser1065Pro)
|
rs28730852
|
0.00579
|
|
NM_003072.5(SMARCA4):c.2002-19T>C
|
rs111899994
|
0.00578
|
|
NM_004268.5(MED17):c.1500G>A (p.Glu500=)
|
rs76149470
|
0.00578
|
|
NM_000743.5(CHRNA3):c.564T>C (p.Asp188=)
|
rs8192480
|
0.00577
|
|
NM_001103.4(ACTN2):c.1371C>T (p.Arg457=)
|
rs114008185
|
0.00577
|
|
NM_152641.4(ARID2):c.339A>C (p.Val113=)
|
rs73292513
|
0.00577
|
|
NM_001261428.3(LPIN1):c.45G>A (p.Ser15=)
|
rs145228255
|
0.00576
|
|
NM_001130438.3(SPTAN1):c.3520-14C>G
|
rs142682344
|
0.00575
|
|
NM_004483.5(GCSH):c.292+9T>G
|
rs8177909
|
0.00574
|
|
NM_000091.5(COL4A3):c.4484A>G (p.Gln1495Arg)
|
rs77964815
|
0.00573
|
|
NM_003036.4(SKI):c.1446G>A (p.Ala482=)
|
rs114345135
|
0.00570
|
|
NM_004544.4(NDUFA10):c.712G>A (p.Glu238Lys)
|
rs35462421
|
0.00570
|
|
NM_019026.6(TMCO1):c.256-12G>A
|
rs145104339
|
0.00570
|
|
NM_000158.4(GBE1):c.118C>A (p.Pro40Thr)
|
rs35196441
|
0.00569
|
|
NM_015278.5(SASH1):c.3266G>A (p.Arg1089Gln)
|
rs75149315
|
0.00569
|
|
NM_001039141.3(TRIOBP):c.504C>A (p.Asp168Glu)
|
rs116448422
|
0.00567
|
|
NM_001080414.4(CCDC88C):c.906G>A (p.Ala302=)
|
rs11851173
|
0.00565
|
|
NM_153252.5(BRWD3):c.2325+5G>A
|
rs186391561
|
0.00565
|
|
NM_001195248.2(APTX):c.-5+16G>T
|
rs145658621
|
0.00564
|
|
NM_000132.4(F8):c.1508G>A (p.Arg503His)
|
rs35383156
|
0.00563
|
|
NM_007373.4(SHOC2):c.1423-7C>T
|
rs180671383
|
0.00563
|
|
NM_005862.3(STAG1):c.1402C>T (p.Leu468=)
|
rs34807246
|
0.00562
|
|
NM_005802.5(TOPORS):c.2160C>T (p.Tyr720=)
|
rs74328058
|
0.00561
|
|
NM_004525.3(LRP2):c.11092G>A (p.Val3698Met)
|
rs34355135
|
0.00560
|
|
NM_006946.4(SPTBN2):c.6669G>A (p.Gly2223=)
|
rs138819654
|
0.00560
|
|
NM_001009944.3(PKD1):c.8161+8G>A
|
rs199569003
|
0.00559
|
|
NM_001040142.2(SCN2A):c.5326C>T (p.Leu1776=)
|
rs138123155
|
0.00559
|
|
NM_030665.4(RAI1):c.4512G>T (p.Leu1504=)
|
rs117995220
|
0.00559
|
|
NM_144639.3(UROC1):c.562C>T (p.Arg188Trp)
|
rs34488036
|
0.00558
|
|
NM_001126108.2(SLC12A3):c.2857-6G>A
|
rs117981500
|
0.00557
|
|
NM_001277062.2(MFF):c.630C>A (p.Ala210=)
|
rs140009845
|
0.00556
|
|
NM_005215.4(DCC):c.1062C>T (p.Val354=)
|
rs141716650
|
0.00555
|
|
NM_015047.3(EMC1):c.2886C>T (p.Tyr962=)
|
rs34350799
|
0.00555
|
|
NM_000297.4(PKD2):c.570G>T (p.Ala190=)
|
rs541702320
|
0.00554
|
|
NM_030667.3(PTPRO):c.2841G>A (p.Leu947=)
|
rs61754412
|
0.00554
|
|
NM_001109809.5(ZFP57):c.783C>T (p.Cys261=)
|
rs61730328
|
0.00553
|
|
NM_006785.4(MALT1):c.1223-20_1223-17del
|
rs558928879
|
0.00553
|
|
NM_003922.4(HERC1):c.1988C>G (p.Ala663Gly)
|
rs137926425
|
0.00552
|
|
NM_004453.4(ETFDH):c.1533T>C (p.Asp511=)
|
rs77484245
|
0.00552
|
|
NM_024757.5(EHMT1):c.1249-9G>T
|
rs73669157
|
0.00552
|
|
NM_133259.4(LRPPRC):c.1736-14G>A
|
rs116117684
|
0.00552
|
|
NM_000336.3(SCNN1B):c.282C>T (p.Ala94=)
|
rs139950628
|
0.00551
|
|
NM_004208.4(AIFM1):c.1833T>C (p.His611=)
|
rs73556209
|
0.00551
|
|
NM_020461.4(TUBGCP6):c.3396T>C (p.Asn1132=)
|
rs879175668
|
0.00551
|
|
NM_138694.4(PKHD1):c.5725C>T (p.Arg1909Trp)
|
rs115338476
|
0.00551
|
|
NM_001943.5(DSG2):c.473T>G (p.Val158Gly)
|
rs191143292
|
0.00550
|
|
NM_018063.5(HELLS):c.993G>A (p.Thr331=)
|
rs112321661
|
0.00550
|
|
NM_020686.6(ABAT):c.954+16C>T
|
rs41311266
|
0.00550
|
|
NM_000391.4(TPP1):c.185C>T (p.Ser62Leu)
|
rs2734715
|
0.00549
|
|
NM_017882.3(CLN6):c.298-6C>T
|
rs117038427
|
0.00549
|
|
NM_001039.4(SCNN1G):c.589G>A (p.Glu197Lys)
|
rs5738
|
0.00548
|
|
NM_004044.7(ATIC):c.1670C>T (p.Ala557Val)
|
rs76436141
|
0.00548
|
|
NM_000085.5(CLCNKB):c.782-18A>G
|
rs201540366
|
0.00547
|
|
NM_001807.6(CEL):c.1833G>C (p.Gly611=)
|
rs1211933243
|
0.00547
|
|
NM_015100.4(POGZ):c.357A>G (p.Thr119=)
|
rs145173739
|
0.00547
|
|
NM_021625.5(TRPV4):c.1153-10C>T
|
rs149541389
|
0.00547
|
|
NM_003072.5(SMARCA4):c.1419+7T>C
|
rs112977340
|
0.00546
|
|
NM_004044.7(ATIC):c.380-18G>A
|
rs190975135
|
0.00546
|
|
NM_000441.2(SLC26A4):c.1790T>C (p.Leu597Ser)
|
rs55638457
|
0.00545
|
|
NM_002465.4(MYBPC1):c.608+14A>G
|
rs4448745
|
0.00545
|
|
NM_003764.4(STX11):c.799G>A (p.Val267Met)
|
rs45574234
|
0.00545
|
|
NM_176824.3(BBS7):c.1512-7A>T
|
rs115987385
|
0.00545
|
|
NM_000037.4(ANK1):c.1999-17C>T
|
rs28571216
|
0.00543
|
|
NM_002465.4(MYBPC1):c.594T>C (p.Ser198=)
|
rs79442861
|
0.00543
|
|
NM_017654.4(SAMD9):c.1347T>C (p.Asn449=)
|
rs150107667
|
0.00542
|
|
NM_021098.3(CACNA1H):c.5493C>T (p.Tyr1831=)
|
rs60218977
|
0.00542
|
|
NM_024652.6(LRRK1):c.5387C>A (p.Pro1796His)
|
rs34876840
|
0.00542
|
|
NM_000057.4(BLM):c.2075-12G>T
|
rs28385027
|
0.00541
|
|
NM_001853.4(COL9A3):c.309+11G>A
|
rs146033082
|
0.00541
|
|
NM_181776.3(SLC36A2):c.273G>A (p.Leu91=)
|
rs35403441
|
0.00541
|
|
NM_005360.5(MAF):c.453C>A (p.Gly151=)
|
rs529173060
|
0.00540
|
|
NM_058174.3(COL6A2):c.2649C>T (p.Phe883=)
|
rs149172490
|
0.00540
|
|
NM_000065.5(C6):c.542C>T (p.Thr181Ile)
|
rs114609505
|
0.00539
|
|
NM_000211.5(ITGB2):c.1888G>A (p.Glu630Lys)
|
rs2230531
|
0.00539
|
|
NM_198428.3(BBS9):c.1110C>T (p.Asn370=)
|
rs61753524
|
0.00539
|
|
NM_004247.4(EFTUD2):c.1058+3_1058+7del
|
rs536749831
|
0.00538
|
|
NM_005879.3(TRAIP):c.303G>A (p.Gln101=)
|
rs145932323
|
0.00538
|
|
NM_080425.4(GNAS):c.1798C>G (p.Arg600Gly)
|
rs74897360
|
0.00538
|
|
NM_001355436.2(SPTB):c.3764+9G>A
|
rs150423485
|
0.00537
|
|
NM_001267727.2(ARSG):c.1092-5C>T
|
rs111385660
|
0.00536
|
|
NM_030632.3(ASXL3):c.1995A>G (p.Arg665=)
|
rs143855418
|
0.00536
|
|
NM_198576.4(AGRN):c.5025C>T (p.Gly1675=)
|
rs147990356
|
0.00536
|
|
NM_001042681.2(RERE):c.4528C>A (p.Pro1510Thr)
|
rs115891071
|
0.00535
|
|
NM_003502.4(AXIN1):c.2403G>A (p.Arg801=)
|
rs113073289
|
0.00535
|
|
NM_001128840.3(CACNA1D):c.3892C>T (p.Pro1298Ser)
|
rs72556360
|
0.00534
|
|
NM_001164665.2(KIAA1549):c.3052A>T (p.Ile1018Leu)
|
rs185695096
|
0.00534
|
|
NM_001273.5(CHD4):c.5292T>C (p.Pro1764=)
|
rs71584868
|
0.00534
|
|
NM_001282531.3(ADNP):c.2475G>T (p.Gly825=)
|
rs148502910
|
0.00534
|
|
NM_005215.4(DCC):c.2053+9T>C
|
rs186819956
|
0.00534
|
|
NM_182914.3(SYNE2):c.888+17A>G
|
rs141247973
|
0.00534
|
|
NM_024721.5(ZFHX4):c.5327A>G (p.Glu1776Gly)
|
rs139920573
|
0.00533
|
|
NM_198525.3(KIF7):c.1885G>A (p.Glu629Lys)
|
rs149814240
|
0.00533
|
|
NM_001330260.2(SCN8A):c.4122T>A (p.Thr1374=)
|
rs115623439
|
0.00531
|
|
NM_015915.5(ATL1):c.1230G>A (p.Gly410=)
|
rs148548325
|
0.00531
|
|
NM_031475.3(ESPN):c.1286C>T (p.Thr429Ile)
|
rs139266211
|
0.00531
|
|
NM_000642.3(AGL):c.4430C>G (p.Thr1477Ser)
|
rs78348923
|
0.00530
|
|
NM_014714.4(IFT140):c.4040+11G>A
|
rs144624901
|
0.00530
|
|
NM_014918.5(CHSY1):c.333G>A (p.Lys111=)
|
rs117481449
|
0.00530
|
|
NM_016204.4(GDF2):c.911C>T (p.Thr304Met)
|
rs75024165
|
0.00530
|
|
NM_000158.4(GBE1):c.2017G>A (p.Ala673Thr)
|
rs193074572
|
0.00529
|
|
NM_001735.3(C5):c.3098T>C (p.Ile1033Thr)
|
rs41311881
|
0.00529
|
|
NM_001098484.3(SLC4A4):c.2272G>C (p.Glu758Gln)
|
rs140846842
|
0.00528
|
|
NM_002470.4(MYH3):c.1575C>T (p.Ile525=)
|
rs34695778
|
0.00528
|
|
NM_004341.5(CAD):c.5058C>T (p.Asp1686=)
|
rs61757649
|
0.00528
|
|
NM_000077.5(CDKN2A):c.379G>T (p.Ala127Ser)
|
rs6413464
|
0.00527
|
|
NM_001378778.1(MPDZ):c.6176G>A (p.Arg2059Gln)
|
rs193280665
|
0.00527
|
|
NM_006440.5(TXNRD2):c.375-19T>G
|
rs147120537
|
0.00527
|
|
NM_173551.5(ANKS6):c.1854C>T (p.Leu618=)
|
rs150228036
|
0.00527
|
|
NM_014425.5(INVS):c.740A>G (p.Asn247Ser)
|
rs41312220
|
0.00526
|
|
NM_015662.3(IFT172):c.4272G>A (p.Gln1424=)
|
rs147850047
|
0.00526
|
|
NM_024009.3(GJB3):c.579C>T (p.Gly193=)
|
rs61744512
|
0.00526
|
|
NM_006440.5(TXNRD2):c.529-6C>T
|
rs116054286
|
0.00525
|
|
NM_020631.6(PLEKHG5):c.-88+6328C>T
|
rs147378306
|
0.00522
|
|
NM_145691.4(ATPAF2):c.511G>A (p.Val171Met)
|
rs62073570
|
0.00522
|
|
NM_000137.4(FAH):c.315-14G>A
|
rs139830755
|
0.00521
|
|
NM_000554.6(CRX):c.724G>A (p.Val242Met)
|
rs61748459
|
0.00521
|
|
NM_014946.4(SPAST):c.131C>T (p.Ser44Leu)
|
rs121908515
|
0.00521
|
|
NM_024577.4(SH3TC2):c.2087A>G (p.His696Arg)
|
rs17109261
|
0.00521
|
|
NM_000433.4(NCF2):c.1256A>T (p.Asn419Ile)
|
rs35012521
|
0.00520
|
|
NM_207361.6(FREM2):c.2600C>T (p.Thr867Ile)
|
rs61995710
|
0.00520
|
|
NM_000526.5(KRT14):c.166C>T (p.Arg56Cys)
|
rs117484558
|
0.00519
|
|
NM_006922.4(SCN3A):c.3250G>A (p.Val1084Ile)
|
rs140990288
|
0.00518
|
|
NM_007289.4(MME):c.2133G>A (p.Val711=)
|
rs61760409
|
0.00518
|
|
NM_022124.6(CDH23):c.1449+76C>A
|
rs41281304
|
0.00518
|
|
NM_138348.6(OTULIN):c.996C>G (p.Leu332=)
|
rs36111454
|
0.00517
|
|
NM_000379.4(XDH):c.3405-15T>C
|
rs141728694
|
0.00516
|
|
NM_004565.3(PEX14):c.873C>T (p.His291=)
|
rs115117459
|
0.00516
|
|
NM_001277115.2(DNAH11):c.693-9T>C
|
rs72655973
|
0.00515
|
|
NM_004618.5(TOP3A):c.180+10C>G
|
rs17805992
|
0.00515
|
|
NM_015141.4(GPD1L):c.81T>C (p.Asn27=)
|
rs34278284
|
0.00515
|
|
NM_001039591.3(USP9X):c.3028-7A>G
|
rs115310559
|
0.00514
|
|
NM_001164665.2(KIAA1549):c.4930-14A>G
|
rs80130913
|
0.00514
|
|
NM_007294.4(BRCA1):c.5406+8T>C
|
rs55946644
|
0.00514
|
|
NM_015662.3(IFT172):c.4659+16T>C
|
rs143060452
|
0.00514
|
|
NM_002661.5(PLCG2):c.2094C>T (p.Asp698=)
|
rs143195637
|
0.00513
|
|
NM_006231.4(POLE):c.6763A>T (p.Ile2255Phe)
|
rs73155056
|
0.00513
|
|
NM_014697.3(NOS1AP):c.864C>T (p.Ser288=)
|
rs77473623
|
0.00513
|
|
NM_058216.3(RAD51C):c.572-17G>T
|
rs193023469
|
0.00513
|
|
NM_022445.4(TPK1):c.98G>A (p.Arg33His)
|
rs77358162
|
0.00512
|
|
NM_052867.4(NALCN):c.2241C>T (p.Pro747=)
|
rs79264337
|
0.00512
|
|
NM_006734.4(HIVEP2):c.4140C>T (p.Thr1380=)
|
rs35406346
|
0.00511
|
|
NM_021098.3(CACNA1H):c.4983C>A (p.Val1661=)
|
rs61382101
|
0.00511
|
|
NM_031475.3(ESPN):c.2070G>A (p.Ser690=)
|
rs142850918
|
0.00511
|
|
NM_152564.5(VPS13B):c.9592C>T (p.Arg3198Trp)
|
rs149842139
|
0.00511
|
|
NM_000254.3(MTR):c.3474G>A (p.Leu1158=)
|
rs142113735
|
0.00510
|
|
NM_014639.4(SKIC3):c.585G>A (p.Lys195=)
|
rs73147944
|
0.00510
|
|
NM_033124.5(CCDC65):c.1134G>A (p.Gly378=)
|
rs116473422
|
0.00510
|
|
NM_000216.4(ANOS1):c.255+4C>T
|
rs141696314
|
0.00507
|
|
NM_005045.4(RELN):c.6084C>T (p.Gly2028=)
|
rs114019779
|
0.00507
|
|
NM_021828.5(HPSE2):c.1194T>C (p.Ala398=)
|
rs111762231
|
0.00507
|
|
NM_012123.4(MTO1):c.1894C>T (p.Leu632=)
|
rs117757245
|
0.00506
|
|
NM_001231.5(CASQ1):c.364+9G>T
|
rs115023646
|
0.00505
|
|
NM_017837.4(PIGV):c.101C>T (p.Pro34Leu)
|
rs139246652
|
0.00505
|
|
NM_018941.4(CLN8):c.-123-4T>C
|
rs114189810
|
0.00505
|
|
NM_152263.4(TPM3):c.566+18C>G
|
rs111368844
|
0.00505
|
|
NM_000193.4(SHH):c.300+17G>A
|
rs116412905
|
0.00504
|
|
NM_000522.5(HOXA13):c.480G>A (p.Ala160=)
|
rs537218194
|
0.00504
|
|
NM_000744.7(CHRNA4):c.76+18G>T
|
rs199908363
|
0.00504
|
|
NM_173648.4(CCDC141):c.4369G>A (p.Val1457Ile)
|
rs145610810
|
0.00504
|
|
NM_004153.4(ORC1):c.2314G>A (p.Val772Ile)
|
rs61753389
|
0.00503
|
|
NM_020987.5(ANK3):c.13106G>A (p.Arg4369Gln)
|
rs141939315
|
0.00503
|
|
NM_001134407.3(GRIN2A):c.2899G>C (p.Val967Leu)
|
rs61731465
|
0.00502
|
|
NM_022168.4(IFIH1):c.2807+1G>A
|
rs35732034
|
0.00502
|
|
NM_022916.6(VPS33A):c.282T>C (p.Ala94=)
|
rs76521771
|
0.00502
|
|
NM_001876.4(CPT1A):c.863G>A (p.Arg288Gln)
|
rs140958507
|
0.00501
|
|
NM_003477.3(PDHX):c.160+15C>G
|
rs187304189
|
0.00501
|
|
NM_004172.5(SLC1A3):c.342G>A (p.Lys114=)
|
rs34809305
|
0.00501
|
|
NM_005445.4(SMC3):c.2007T>C (p.Tyr669=)
|
rs147404470
|
0.00501
|
|
NM_012096.3(APPL1):c.256T>C (p.Leu86=)
|
rs147166062
|
0.00501
|
|
NM_000052.7(ATP7A):c.4201G>C (p.Val1401Leu)
|
rs5959130
|
0.00500
|
|
NM_005035.4(POLRMT):c.3165C>T (p.Thr1055=)
|
rs149476145
|
0.00500
|
|
NM_015202.5(KATNIP):c.3913G>A (p.Glu1305Lys)
|
rs61730241
|
0.00500
|
|
NM_018161.5(NADSYN1):c.1138G>A (p.Val380Met)
|
rs147585323
|
0.00500
|
|
NM_001257180.2(SLC20A2):c.1008C>T (p.His336=)
|
rs111553899
|
0.00499
|
|
NM_004004.6(GJB2):c.341A>G (p.Glu114Gly)
|
rs2274083
|
0.00499
|
|
NM_053025.4(MYLK):c.4764G>A (p.Pro1588=)
|
rs56056823
|
0.00499
|
|
NM_001113378.2(FANCI):c.1699-7C>A
|
rs28446881
|
0.00498
|
|
NM_001606.5(ABCA2):c.4003+7G>A
|
rs200425176
|
0.00498
|
|
NM_006231.4(POLE):c.1359+9G>A
|
rs75135381
|
0.00498
|
|
NM_001128840.3(CACNA1D):c.264C>T (p.Tyr88=)
|
rs28365112
|
0.00496
|
|
NM_000505.4(F12):c.398-12C>T
|
rs56285942
|
0.00495
|
|
NM_000181.4(GUSB):c.725-16C>T
|
rs62470936
|
0.00494
|
|
NM_001080414.4(CCDC88C):c.4668G>A (p.Leu1556=)
|
rs139544500
|
0.00494
|
|
NM_001909.5(CTSD):c.828-19A>C
|
rs200047861
|
0.00494
|
|
NM_005535.3(IL12RB1):c.1573G>A (p.Ala525Thr)
|
rs11575935
|
0.00494
|
|
NM_000286.3(PEX12):c.102A>T (p.Arg34Ser)
|
rs147530802
|
0.00493
|
|
NM_000789.4(ACE):c.1038G>C (p.Ser346=)
|
rs34680431
|
0.00493
|
|
NM_018136.5(ASPM):c.6727G>T (p.Val2243Leu)
|
rs148425392
|
0.00493
|
|
NM_021098.3(CACNA1H):c.4817C>T (p.Thr1606Met)
|
rs59286323
|
0.00493
|
|
NM_022336.4(EDAR):c.870C>T (p.Pro290=)
|
rs3749099
|
0.00493
|
|
NM_030665.4(RAI1):c.2907C>T (p.Asp969=)
|
rs141757356
|
0.00492
|
|
NM_032119.4(ADGRV1):c.3482C>G (p.Ser1161Cys)
|
rs147062294
|
0.00492
|
|
NM_001206641.3(COA6):c.212+162G>A
|
rs113627094
|
0.00491
|
|
NM_014846.4(WASHC5):c.867A>C (p.Val289=)
|
rs79464415
|
0.00491
|
|
NM_020822.3(KCNT1):c.3295C>T (p.Pro1099Ser)
|
rs200642629
|
0.00491
|
|
NM_198241.3(EIF4G1):c.4510C>T (p.Leu1504=)
|
rs74627110
|
0.00490
|
|
NM_004208.4(AIFM1):c.103C>T (p.Pro35Ser)
|
rs61730896
|
0.00489
|
|
NM_013314.4(BLNK):c.472G>T (p.Ala158Ser)
|
rs148612299
|
0.00489
|
|
NM_000059.4(BRCA2):c.5199C>T (p.Ser1733=)
|
rs28897734
|
0.00488
|
|
NM_001845.6(COL4A1):c.3949+10C>T
|
rs188122235
|
0.00488
|
|
NM_006306.4(SMC1A):c.699G>A (p.Val233=)
|
rs145319852
|
0.00488
|
|
NM_006445.4(PRPF8):c.4467C>T (p.Leu1489=)
|
rs113849788
|
0.00488
|
|
NM_206933.4(USH2A):c.10851C>T (p.Asn3617=)
|
rs12073994
|
0.00488
|
|
NM_002471.4(MYH6):c.36G>A (p.Ala12=)
|
rs141014719
|
0.00487
|
|
NM_000505.4(F12):c.1272G>C (p.Thr424=)
|
rs61737766
|
0.00486
|
|
NM_001001563.5(TIMM50):c.598-15C>T
|
rs45611439
|
0.00486
|
|
NM_004006.3(DMD):c.10789C>T (p.Leu3597=)
|
rs1800281
|
0.00486
|
|
NM_004614.5(TK2):c.231+10C>T
|
rs187517309
|
0.00486
|
|
NM_181426.2(CCDC39):c.2432G>A (p.Arg811His)
|
rs61733583
|
0.00485
|
|
NM_007262.5(PARK7):c.*124C>T
|
rs147437667
|
0.00484
|
|
NM_015046.7(SETX):c.4755T>G (p.Pro1585=)
|
rs151237267
|
0.00484
|
|
NM_001009944.3(PKD1):c.11411+18C>T
|
rs183078730
|
0.00483
|
|
NM_001384140.1(PCDH15):c.3983+12T>C
|
rs149867749
|
0.00483
|
|
NM_022489.4(INF2):c.1263A>C (p.Pro421=)
|
rs761903419
|
0.00483
|
|
NM_000329.3(RPE65):c.1155G>A (p.Thr385=)
|
rs62653014
|
0.00481
|
|
NM_001349253.2(SCN11A):c.4230G>A (p.Thr1410=)
|
rs78953918
|
0.00480
|
|
NM_001009944.3(PKD1):c.11934C>T (p.Asp3978=)
|
rs202207855
|
0.00479
|
|
NM_002150.3(HPD):c.414G>A (p.Thr138=)
|
rs140788110
|
0.00479
|
|
NM_018006.5(TRMU):c.387A>G (p.Ala129=)
|
rs144586525
|
0.00478
|
|
NR_001566.1(TERC):n.228G>A
|
rs141686314
|
0.00478
|
|
NM_000534.5(PMS1):c.1643A>G (p.Lys548Arg)
|
rs61736576
|
0.00477
|
|
NM_015102.5(NPHP4):c.3894C>T (p.Ala1298=)
|
rs60094861
|
0.00477
|
|
NM_017617.5(NOTCH1):c.873C>T (p.Tyr291=)
|
rs143654474
|
0.00477
|
|
NM_000484.4(APP):c.1840A>G (p.Ser614Gly)
|
rs112263157
|
0.00475
|
|
NM_003620.4(PPM1D):c.456C>T (p.Ala152=)
|
rs149400522
|
0.00475
|
|
NM_004415.4(DSP):c.2630+18C>T
|
rs145963404
|
0.00475
|
|
NM_152419.3(HGSNAT):c.1250+7G>A
|
rs74795999
|
0.00475
|
|
NM_001849.4(COL6A2):c.2980G>A (p.Ala994Thr)
|
rs117931394
|
0.00474
|
|
NM_012203.2(GRHPR):c.962C>T (p.Pro321Leu)
|
rs142356700
|
0.00474
|
|
NM_017696.3(MCM9):c.1272G>A (p.Arg424=)
|
rs151149424
|
0.00474
|
|
NM_138295.5(PKD1L1):c.4040G>A (p.Arg1347Gln)
|
rs79519739
|
0.00474
|
|
NM_182914.3(SYNE2):c.2803T>C (p.Leu935=)
|
rs114718315
|
0.00474
|
|
NM_001367624.2(ZNF469):c.62G>A (p.Arg21His)
|
rs145178398
|
0.00473
|
|
NM_006019.4(TCIRG1):c.1515C>T (p.Thr505=)
|
rs34211419
|
0.00473
|
|
NM_000094.4(COL7A1):c.7286C>T (p.Pro2429Leu)
|
rs2229822
|
0.00472
|
|
NM_001005242.3(PKP2):c.*202C>T
|
rs77988382
|
0.00472
|
|
NM_012120.3(CD2AP):c.42T>C (p.His14=)
|
rs34773184
|
0.00472
|
|
NM_014249.4(NR2E3):c.361G>A (p.Glu121Lys)
|
rs146403122
|
0.00472
|
|
NM_000251.3(MSH2):c.1666T>C (p.Leu556=)
|
rs61756466
|
0.00471
|
|
NM_000540.3(RYR1):c.12881C>T (p.Thr4294Met)
|
rs587784372
|
0.00471
|
|
NM_001220.5(CAMK2B):c.51C>T (p.Tyr17=)
|
rs150540739
|
0.00471
|
|
NM_012120.3(CD2AP):c.1035T>A (p.Ala345=)
|
rs34023453
|
0.00471
|
|
NM_022089.4(ATP13A2):c.132A>G (p.Pro44=)
|
rs200816691
|
0.00471
|
|
NM_030813.6(CLPB):c.668G>A (p.Ser223Asn)
|
rs143097446
|
0.00471
|
|
NM_001080467.3(MYO5B):c.2076T>C (p.Ala692=)
|
rs200559863
|
0.00470
|
|
NM_001360.3(DHCR7):c.549C>T (p.Cys183=)
|
rs115446684
|
0.00470
|
|
NM_005555.4(KRT6B):c.1186G>A (p.Asp396Asn)
|
rs138988810
|
0.00470
|
|
NM_018706.7(DHTKD1):c.2121C>A (p.Asp707Glu)
|
rs35046964
|
0.00470
|
|
NM_022489.4(INF2):c.1451G>A (p.Cys484Tyr)
|
rs201323100
|
0.00470
|
|
NM_024649.5(BBS1):c.1020C>G (p.Ser340=)
|
rs35209408
|
0.00470
|
|
NM_000250.2(MPO):c.2187C>T (p.Asn729=)
|
rs113203253
|
0.00469
|
|
NM_000257.4(MYH7):c.3864C>G (p.Ser1288=)
|
rs45501694
|
0.00469
|
|
NM_001009944.3(PKD1):c.12198C>T (p.Cys4066=)
|
rs116216040
|
0.00469
|
|
NM_005763.4(AASS):c.1678C>T (p.Pro560Ser)
|
rs74882337
|
0.00469
|
|
NM_130849.4(SLC39A4):c.948C>T (p.Pro316=)
|
rs60615103
|
0.00469
|
|
NM_001909.5(CTSD):c.353-12C>T
|
rs141523461
|
0.00468
|
|
NM_006015.6(ARID1A):c.6586C>T (p.Leu2196=)
|
rs149633292
|
0.00468
|
|
NM_173648.4(CCDC141):c.1521A>C (p.Gln507His)
|
rs114129666
|
0.00468
|
|
NM_000126.4(ETFA):c.351+17T>C
|
rs138629105
|
0.00467
|
|
NM_001127222.2(CACNA1A):c.6342C>G (p.Thr2114=)
|
rs16049
|
0.00467
|
|
NM_004525.3(LRP2):c.3659C>T (p.Ala1220Val)
|
rs144723964
|
0.00467
|
|
NM_032575.3(GLIS2):c.1464G>A (p.Leu488=)
|
rs149580171
|
0.00467
|
|
NM_000316.3(PTH1R):c.216G>A (p.Ala72=)
|
rs116789130
|
0.00466
|
|
NM_002485.5(NBN):c.1882G>A (p.Glu628Lys)
|
rs115321485
|
0.00466
|
|
NM_001372.4(DNAH9):c.11284-20A>G
|
rs113483879
|
0.00465
|
|
NM_004766.3(COPB2):c.342T>C (p.Ile114=)
|
rs74860267
|
0.00465
|
|
NM_001206927.2(DNAH8):c.8339T>C (p.Ile2780Thr)
|
rs142328376
|
0.00463
|
|
NM_004218.4(RAB11B):c.357C>A (p.Ile119=)
|
rs34741553
|
0.00463
|
|
NM_001134382.3(IQSEC1):c.1428G>A (p.Ser476=)
|
rs3732685
|
0.00462
|
|
NM_003072.5(SMARCA4):c.4272G>A (p.Pro1424=)
|
rs114882905
|
0.00462
|
|
NM_080424.4(SP110):c.1647C>T (p.Cys549=)
|
rs116626378
|
0.00462
|
|
NM_004977.3(KCNC3):c.984G>A (p.Pro328=)
|
rs114192110
|
0.00461
|
|
NM_005027.4(PIK3R2):c.1560-17C>T
|
rs183117011
|
0.00461
|
|
NM_022436.3(ABCG5):c.1864A>G (p.Met622Val)
|
rs140374206
|
0.00461
|
|
NM_001018115.3(FANCD2):c.1634A>G (p.Asn545Ser)
|
rs145522204
|
0.00460
|
|
NM_001365536.1(SCN9A):c.2517+6C>T
|
rs145316463
|
0.00460
|
|
NM_016035.5(COQ4):c.-20C>G
|
rs372363685
|
0.00460
|
|
NM_020751.3(COG6):c.153+19G>A
|
rs45508796
|
0.00460
|
|
NM_004958.4(MTOR):c.2649+9C>T
|
rs144243347
|
0.00459
|
|
NM_007289.4(MME):c.1255A>C (p.Met419Leu)
|
rs34931605
|
0.00459
|
|
NM_006269.2(RP1):c.616-6T>C
|
rs186571865
|
0.00458
|
|
NM_139027.6(ADAMTS13):c.500C>T (p.Thr167Met)
|
rs141932927
|
0.00458
|
|
NM_001144869.3(LIPT2):c.690C>T (p.Pro230=)
|
rs147957229
|
0.00457
|
|
NM_000391.4(TPP1):c.1253G>A (p.Arg418Gln)
|
rs138744051
|
0.00456
|
|
NM_015404.4(WHRN):c.1166+18G>A
|
rs149202009
|
0.00456
|
|
NM_000098.3(CPT2):c.1578T>C (p.Gly526=)
|
rs113493395
|
0.00455
|
|
NM_006231.4(POLE):c.1359+18C>T
|
rs5744775
|
0.00455
|
|
NM_020223.4(FAM20C):c.1505+20C>T
|
rs145973343
|
0.00455
|
|
NM_000789.4(ACE):c.2979C>T (p.Ile993=)
|
rs75067113
|
0.00452
|
|
NM_004562.3(PRKN):c.458C>G (p.Pro153Arg)
|
rs55654276
|
0.00452
|
|
NM_203446.3(SYNJ1):c.6G>A (p.Ala2=)
|
rs61750221
|
0.00452
|
|
NM_000162.5(GCK):c.339C>T (p.Asp113=)
|
rs149412035
|
0.00451
|
|
NM_001080414.4(CCDC88C):c.5951G>A (p.Arg1984Gln)
|
rs61745465
|
0.00451
|
|
NM_001127222.2(CACNA1A):c.1357G>A (p.Ala453Thr)
|
rs41276886
|
0.00451
|
|
NM_002471.4(MYH6):c.1989C>T (p.Asn663=)
|
rs28730774
|
0.00451
|
|
NM_153717.3(EVC):c.469C>G (p.Pro157Ala)
|
rs146729456
|
0.00451
|
|
NM_000441.2(SLC26A4):c.898A>C (p.Ile300Leu)
|
rs111033304
|
0.00450
|
|
NM_001003800.2(BICD2):c.2258+15G>C
|
rs140501870
|
0.00450
|
|
NM_000054.7(AVPR2):c.12G>A (p.Ala4=)
|
rs61748993
|
0.00449
|
|
NM_020812.4(DOCK6):c.885C>T (p.Asn295=)
|
rs146599144
|
0.00449
|
|
NM_031935.3(HMCN1):c.15011C>T (p.Thr5004Ile)
|
rs114629728
|
0.00449
|
|
NM_001009944.3(PKD1):c.12765C>T (p.Pro4255=)
|
rs62038811
|
0.00448
|
|
NM_001164508.2(NEB):c.18693G>C (p.Ala6231=)
|
rs141338915
|
0.00448
|
|
NM_007262.5(PARK7):c.166G>A (p.Ala56Thr)
|
rs114601558
|
0.00448
|
|
NM_031935.3(HMCN1):c.15010A>T (p.Thr5004Ser)
|
rs114364265
|
0.00448
|
|
NM_000342.4(SLC4A1):c.12G>A (p.Leu4=)
|
rs115901854
|
0.00447
|
|
NM_024514.5(CYP2R1):c.368-12A>T
|
rs189127299
|
0.00447
|
|
NM_001110556.2(FLNA):c.1176G>A (p.Glu392=)
|
rs201173693
|
0.00446
|
|
NM_005609.4(PYGM):c.2009C>T (p.Ala670Val)
|
rs113806080
|
0.00446
|
|
NM_173354.5(SIK1):c.1215G>A (p.Met405Ile)
|
rs34987632
|
0.00446
|
|
NM_007317.3(KIF22):c.1145-6A>G
|
rs138675020
|
0.00445
|
|
NM_017755.6(NSUN2):c.510G>A (p.Leu170=)
|
rs144888290
|
0.00445
|
|
NM_018896.5(CACNA1G):c.1589G>A (p.Arg530His)
|
rs7222276
|
0.00445
|
|
NM_022455.5(NSD1):c.1690G>T (p.Ala564Ser)
|
rs116520623
|
0.00445
|
|
NM_001142864.4(PIEZO1):c.2865G>A (p.Gln955=)
|
rs35597347
|
0.00444
|
|
NM_015922.3(NSDHL):c.1054C>T (p.Leu352=)
|
rs142351862
|
0.00444
|
|
NM_031935.3(HMCN1):c.7818C>T (p.Thr2606=)
|
rs138332626
|
0.00444
|
|
NM_002386.4(MC1R):c.466G>C (p.Val156Leu)
|
rs3212365
|
0.00443
|
|
NM_002471.4(MYH6):c.2168+17C>A
|
rs192337153
|
0.00443
|
|
NM_005544.3(IRS1):c.2358T>C (p.His786=)
|
rs137866175
|
0.00443
|
|
NM_001330360.2(POLA1):c.1687-15C>T
|
rs11573348
|
0.00442
|
|
NM_001033855.3(DCLRE1C):c.1893C>T (p.Pro631=)
|
rs41300676
|
0.00441
|
|
NM_004281.4(BAG3):c.231G>A (p.Pro77=)
|
rs143752613
|
0.00441
|
|
NM_004525.3(LRP2):c.7917A>C (p.Gly2639=)
|
rs144126440
|
0.00441
|
|
NM_013275.6(ANKRD11):c.744+18C>G
|
rs147328392
|
0.00441
|
|
NM_001206927.2(DNAH8):c.4908G>T (p.Glu1636Asp)
|
rs61757219
|
0.00440
|
|
NM_207037.2(TCF12):c.1950C>T (p.Val650=)
|
rs77034126
|
0.00440
|
|
NM_032387.5(WNK4):c.945C>T (p.Gly315=)
|
rs61754348
|
0.00439
|
|
NM_004369.4(COL6A3):c.4895G>A (p.Arg1632Gln)
|
rs111231885
|
0.00438
|
|
NM_152743.4(BRAT1):c.675C>T (p.Phe225=)
|
rs139443843
|
0.00438
|
|
NM_001164508.2(NEB):c.12667G>A (p.Ala4223Thr)
|
rs12998234
|
0.00437
|
|
NM_019066.5(MAGEL2):c.3017C>G (p.Thr1006Ser)
|
rs138628273
|
0.00437
|
|
NM_001130438.3(SPTAN1):c.652-6G>A
|
rs115815276
|
0.00436
|
|
NM_001256071.3(RNF213):c.1110A>G (p.Ala370=)
|
rs141921176
|
0.00436
|
|
NM_001365951.3(KIF1B):c.4753-20C>A
|
rs192598799
|
0.00436
|
|
NM_000096.4(CP):c.2522C>G (p.Thr841Arg)
|
rs56033670
|
0.00435
|
|
NM_000283.4(PDE6B):c.101C>T (p.Ala34Val)
|
rs148829093
|
0.00434
|
|
NM_021098.3(CACNA1H):c.1236C>T (p.Asn412=)
|
rs59696308
|
0.00434
|
|
NM_138295.5(PKD1L1):c.2969G>A (p.Arg990Gln)
|
rs141646493
|
0.00434
|
|
NM_001220.5(CAMK2B):c.651G>A (p.Glu217=)
|
rs56291919
|
0.00433
|
|
NM_003482.4(KMT2D):c.13045C>G (p.Pro4349Ala)
|
rs181733689
|
0.00433
|
|
NM_015215.4(CAMTA1):c.986A>G (p.Lys329Arg)
|
rs151133441
|
0.00433
|
|
NM_080425.4(GNAS):c.1221C>G (p.Thr407=)
|
rs200430001
|
0.00433
|
|
NM_000088.4(COL1A1):c.1168G>A (p.Ala390Thr)
|
rs116794104
|
0.00432
|
|
NM_000135.4(FANCA):c.903G>T (p.Val301=)
|
rs56062548
|
0.00432
|
|
NM_004369.4(COL6A3):c.1182C>T (p.Thr394=)
|
rs114750216
|
0.00432
|
|
NM_006306.4(SMC1A):c.298+19A>G
|
rs113817745
|
0.00432
|
|
NM_000860.6(HPGD):c.422-20G>A
|
rs28510609
|
0.00431
|
|
NM_018958.3(NPAP1):c.3046G>T (p.Asp1016Tyr)
|
rs74942536
|
0.00430
|
|
NM_207361.6(FREM2):c.4031G>A (p.Arg1344His)
|
rs143044921
|
0.00430
|
|
NM_001378454.1(ALMS1):c.7268A>G (p.Asn2423Ser)
|
rs75145370
|
0.00429
|
|
NM_001447.3(FAT2):c.829G>C (p.Val277Leu)
|
rs145834206
|
0.00429
|
|
NM_021922.3(FANCE):c.1572G>A (p.Arg524=)
|
rs115195341
|
0.00429
|
|
NM_032119.4(ADGRV1):c.5525-7C>T
|
rs137853919
|
0.00429
|
|
NM_004044.7(ATIC):c.5C>T (p.Ala2Val)
|
rs138988481
|
0.00428
|
|
NM_014712.3(SETD1A):c.726C>T (p.Pro242=)
|
rs61744415
|
0.00428
|
|
NM_015937.6(PIGT):c.969C>T (p.Thr323=)
|
rs116312756
|
0.00428
|
|
NM_001042492.3(NF1):c.2985G>C (p.Leu995=)
|
rs17881467
|
0.00426
|
|
NM_005909.5(MAP1B):c.4902C>T (p.Pro1634=)
|
rs34984533
|
0.00426
|
|
NM_001277115.2(DNAH11):c.6041+18T>C
|
rs72657336
|
0.00425
|
|
NM_002448.3(MSX1):c.218C>T (p.Pro73Leu)
|
rs201156596
|
0.00425
|
|
NM_175914.5(HNF4A):c.669A>G (p.Leu223=)
|
rs139591750
|
0.00425
|
|
NM_006766.5(KAT6A):c.1599-9C>T
|
rs74337152
|
0.00424
|
|
NM_001081.4(CUBN):c.2791+9_2791+16del
|
rs375796983
|
0.00423
|
|
NM_021738.3(SVIL):c.4241G>C (p.Ser1414Thr)
|
rs144661370
|
0.00423
|
|
NM_014956.5(CEP164):c.2655C>T (p.Thr885=)
|
rs61737637
|
0.00422
|
|
NM_153252.5(BRWD3):c.33G>A (p.Glu11=)
|
rs139071237
|
0.00422
|
|
NM_206933.4(USH2A):c.9459C>T (p.Cys3153=)
|
rs73090721
|
0.00422
|
|
NM_000057.4(BLM):c.3128C>A (p.Ala1043Asp)
|
rs2229035
|
0.00421
|
|
NM_012330.4(KAT6B):c.4407G>A (p.Ser1469=)
|
rs114126792
|
0.00421
|
|
NM_000271.5(NPC1):c.882-40T>A
|
rs144469784
|
0.00420
|
|
NM_003321.5(TUFM):c.684+6C>T
|
rs188421321
|
0.00419
|
|
NM_021913.5(AXL):c.1549G>A (p.Gly517Ser)
|
rs35538872
|
0.00419
|
|
NM_206933.4(USH2A):c.14074G>A (p.Gly4692Arg)
|
rs45549044
|
0.00419
|
|
NM_033380.3(COL4A5):c.1289C>A (p.Ala430Asp)
|
rs142883891
|
0.00418
|
|
NM_006772.3(SYNGAP1):c.1491T>C (p.Tyr497=)
|
rs72887798
|
0.00417
|
|
NM_032861.4(SERAC1):c.1134C>T (p.Gly378=)
|
rs116763934
|
0.00417
|
|
NM_033305.3(VPS13A):c.2037+8C>A
|
rs41289961
|
0.00417
|
|
NM_006185.4(NUMA1):c.2937T>C (p.Asn979=)
|
rs142372284
|
0.00416
|
|
NM_032608.7(MYO18B):c.4314+10T>A
|
rs145106992
|
0.00416
|
|
NM_144508.5(KNL1):c.451A>G (p.Met151Val)
|
rs35146555
|
0.00416
|
|
NM_000545.8(HNF1A):c.326+6_326+10dup
|
rs56158114
|
0.00415
|
|
NM_002076.4(GNS):c.792+16A>G
|
rs148924072
|
0.00415
|
|
NM_182961.4(SYNE1):c.11187G>T (p.Lys3729Asn)
|
rs143070183
|
0.00415
|
|
NM_000027.4(AGA):c.965C>T (p.Thr322Ile)
|
rs56849061
|
0.00414
|
|
NM_001083961.2(WDR62):c.1225A>G (p.Asn409Asp)
|
rs146180912
|
0.00414
|
|
NM_001242882.2(NAXD):c.840-58C>T
|
rs77771278
|
0.00414
|
|
NM_001572.5(IRF7):c.660G>A (p.Leu220=)
|
rs76107421
|
0.00414
|
|
NM_006185.4(NUMA1):c.5285G>A (p.Arg1762His)
|
rs149588226
|
0.00414
|
|
NM_032119.4(ADGRV1):c.4254T>C (p.Tyr1418=)
|
rs149459739
|
0.00414
|
|
NM_001271696.3(ABCB7):c.312C>T (p.Leu104=)
|
rs140031135
|
0.00412
|
|
NM_003924.4(PHOX2B):c.450C>G (p.Arg150=)
|
rs17881486
|
0.00412
|
|
NM_006904.7(PRKDC):c.1911A>G (p.Lys637=)
|
rs45438803
|
0.00412
|
|
NM_017827.4(SARS2):c.364-14C>T
|
rs150151686
|
0.00412
|
|
NM_018122.5(DARS2):c.1642C>A (p.Leu548Met)
|
rs149660059
|
0.00412
|
|
NM_018474.6(KIZ):c.1024C>G (p.Pro342Ala)
|
rs151319642
|
0.00412
|
|
NM_001009944.3(PKD1):c.11262G>C (p.Leu3754=)
|
rs139399947
|
0.00411
|
|
NM_003632.3(CNTNAP1):c.327C>T (p.Asp109=)
|
rs115552583
|
0.00411
|
|
NM_015599.3(PGM3):c.33A>G (p.Ala11=)
|
rs150763574
|
0.00411
|
|
NM_030777.4(SLC2A10):c.366C>T (p.Tyr122=)
|
rs34990188
|
0.00411
|
|
NM_032861.4(SERAC1):c.440C>T (p.Thr147Met)
|
rs114443105
|
0.00411
|
|
NM_134261.3(RORA):c.987A>G (p.Glu329=)
|
rs141640548
|
0.00411
|
|
NM_178012.5(TUBB2B):c.609C>T (p.Asp203=)
|
rs1054332
|
0.00411
|
|
NM_001429.4(EP300):c.2773C>A (p.Pro925Thr)
|
rs148884710
|
0.00410
|
|
NM_032861.4(SERAC1):c.1155A>G (p.Gln385=)
|
rs116173262
|
0.00410
|
|
NM_207361.6(FREM2):c.7068C>T (p.Ala2356=)
|
rs74577582
|
0.00410
|
|
NM_002472.3(MYH8):c.1632T>C (p.Pro544=)
|
rs144596237
|
0.00409
|
|
NM_003051.4(SLC16A1):c.973A>G (p.Ile325Val)
|
rs116216229
|
0.00409
|
|
NM_000094.4(COL7A1):c.4613G>A (p.Arg1538His)
|
rs2229824
|
0.00408
|
|
NM_001853.4(COL9A3):c.2010C>T (p.Ala670=)
|
rs34911725
|
0.00408
|
|
NM_003072.5(SMARCA4):c.3547-11T>C
|
rs190104006
|
0.00408
|
|
NM_002246.3(KCNK3):c.654G>T (p.Pro218=)
|
rs34292597
|
0.00407
|
|
NM_004006.3(DMD):c.7542+13A>G
|
rs72466585
|
0.00407
|
|
NM_005633.4(SOS1):c.345+15C>T
|
rs75937422
|
0.00407
|
|
NM_021098.3(CACNA1H):c.5173+10C>T
|
rs72554026
|
0.00407
|
|
NM_000261.2(MYOC):c.1193A>G (p.Lys398Arg)
|
rs56314834
|
0.00406
|
|
NM_000475.5(NR0B1):c.1029G>A (p.Leu343=)
|
rs112775648
|
0.00406
|
|
NM_024120.5(NDUFAF5):c.449A>G (p.Asn150Ser)
|
rs148341631
|
0.00406
|
|
NM_033026.6(PCLO):c.10146T>G (p.Thr3382=)
|
rs111241048
|
0.00406
|
|
NM_053025.4(MYLK):c.4349G>A (p.Arg1450Gln)
|
rs41366751
|
0.00406
|
|
NM_000211.5(ITGB2):c.1542C>T (p.Cys514=)
|
rs2230530
|
0.00405
|
|
NM_002734.5(PRKAR1A):c.204G>A (p.Leu68=)
|
rs74863634
|
0.00405
|
|
NM_014141.6(CNTNAP2):c.854G>C (p.Gly285Ala)
|
rs150918383
|
0.00405
|
|
NM_000540.3(RYR1):c.1923C>G (p.Thr641=)
|
rs116591968
|
0.00404
|
|
NM_004608.4(TBX6):c.484G>A (p.Gly162Ser)
|
rs56098093
|
0.00404
|
|
NM_021957.4(GYS2):c.2054T>C (p.Phe685Ser)
|
rs117474773
|
0.00404
|
|
NM_001277115.2(DNAH11):c.13495G>A (p.Glu4499Lys)
|
rs143362381
|
0.00403
|
|
NM_003482.4(KMT2D):c.6076A>G (p.Ile2026Val)
|
rs190995850
|
0.00402
|
|
NM_021975.4(RELA):c.871G>A (p.Asp291Asn)
|
rs61759893
|
0.00402
|
|
NM_032790.4(ORAI1):c.132A>G (p.Pro44=)
|
rs554617167
|
0.00402
|
|
NM_000433.4(NCF2):c.1360C>T (p.Pro454Ser)
|
rs55761650
|
0.00401
|
|
NM_002361.4(MAG):c.1716+18G>C
|
rs10419210
|
0.00401
|
|
NM_015267.4(CUX2):c.2643G>A (p.Pro881=)
|
rs200061368
|
0.00401
|
|
NM_018263.6(ASXL2):c.4111C>A (p.Gln1371Lys)
|
rs115221221
|
0.00401
|
|
NM_152617.4(RNF168):c.1132T>C (p.Cys378Arg)
|
rs149004801
|
0.00401
|
|
NM_177433.3(MAGED2):c.816A>G (p.Pro272=)
|
rs111542041
|
0.00401
|
|
NM_001113378.2(FANCI):c.1211T>C (p.Ile404Thr)
|
rs79080874
|
0.00400
|
|
NM_030665.4(RAI1):c.1142C>T (p.Ala381Val)
|
rs113208290
|
0.00400
|
|
NM_053025.4(MYLK):c.422+14G>C
|
rs146112057
|
0.00400
|
|
NM_001698.3(AUH):c.927A>G (p.Glu309=)
|
rs78739693
|
0.00399
|
|
NM_002133.3(HMOX1):c.378C>T (p.Pro126=)
|
rs73885946
|
0.00399
|
|
NM_004595.5(SMS):c.1026A>C (p.Ser342=)
|
rs61732077
|
0.00399
|
|
NM_016366.3(CABP2):c.188G>A (p.Arg63Gln)
|
rs149431491
|
0.00399
|
|
NM_182914.3(SYNE2):c.16420T>A (p.Ser5474Thr)
|
rs114483901
|
0.00399
|
|
NM_002180.3(IGHMBP2):c.1770T>C (p.Phe590=)
|
rs138997061
|
0.00398
|
|
NM_002185.5(IL7R):c.1231A>G (p.Thr411Ala)
|
rs115316501
|
0.00398
|
|
NM_014845.6(FIG4):c.27C>T (p.Ile9=)
|
rs141040807
|
0.00398
|
|
NM_144670.6(A2ML1):c.*1+12G>A
|
rs115808815
|
0.00398
|
|
NM_000444.6(PHEX):c.1383G>A (p.Thr461=)
|
rs77710864
|
0.00397
|
|
NM_015122.3(FCHO1):c.489+20G>A
|
rs116103463
|
0.00397
|
|
NM_000059.4(BRCA2):c.6347A>G (p.His2116Arg)
|
rs55953736
|
0.00396
|
|
NM_001080512.3(BICC1):c.2047C>T (p.Leu683=)
|
rs150269030
|
0.00396
|
|
NM_001134382.3(IQSEC1):c.2602G>A (p.Val868Ile)
|
rs17541405
|
0.00396
|
|
NM_012431.3(SEMA3E):c.2102G>T (p.Ser701Ile)
|
rs142204796
|
0.00396
|
|
NM_018136.5(ASPM):c.4213C>T (p.Arg1405Cys)
|
rs139367209
|
0.00396
|
|
NM_182961.4(SYNE1):c.10037C>A (p.Ser3346Tyr)
|
rs150170988
|
0.00396
|
|
NM_182961.4(SYNE1):c.20199+16C>T
|
rs114739771
|
0.00395
|
|
NM_000049.4(ASPA):c.245T>C (p.Met82Thr)
|
rs80099330
|
0.00394
|
|
NM_000093.5(COL5A1):c.5407G>A (p.Asp1803Asn)
|
rs61729495
|
0.00394
|
|
NM_001099922.3(ALG13):c.3039A>G (p.Val1013=)
|
rs183032531
|
0.00394
|
|
NM_003200.5(TCF3):c.1713G>A (p.Glu571=)
|
rs143212973
|
0.00394
|
|
NM_004984.4(KIF5A):c.2769G>A (p.Arg923=)
|
rs35225609
|
0.00394
|
|
NM_206933.4(USH2A):c.8458G>A (p.Val2820Ile)
|
rs59174500
|
0.00394
|
|
NM_000081.4(LYST):c.4863-19T>C
|
rs150288597
|
0.00393
|
|
NM_001164508.2(NEB):c.17747A>G (p.Lys5916Arg)
|
rs73967567
|
0.00393
|
|
NM_020987.5(ANK3):c.3984G>A (p.Leu1328=)
|
rs149052618
|
0.00393
|
|
NM_001807.6(CEL):c.402C>G (p.Gly134=)
|
rs150358550
|
0.00392
|
|
NM_001875.5(CPS1):c.1214C>A (p.Thr405Asn)
|
rs138254425
|
0.00392
|
|
NM_002180.3(IGHMBP2):c.1294G>A (p.Ala432Thr)
|
rs116012780
|
0.00392
|
|
NM_020549.5(CHAT):c.745C>G (p.Leu249Val)
|
rs115510708
|
0.00392
|
|
NM_198428.3(BBS9):c.1993C>T (p.Leu665Phe)
|
rs116262072
|
0.00392
|
|
NM_001270.4(CHD1):c.1371A>G (p.Leu457=)
|
rs116648225
|
0.00391
|
|
NM_001378183.1(PIEZO2):c.3757+13A>G
|
rs73389079
|
0.00391
|
|
NM_001127222.2(CACNA1A):c.5067+20G>A
|
rs184517632
|
0.00390
|
|
NM_001330360.2(POLA1):c.2267A>G (p.Lys756Arg)
|
rs2230928
|
0.00390
|
|
NM_001904.4(CTNNB1):c.2320C>T (p.Leu774=)
|
rs4135386
|
0.00390
|
|
NM_004055.5(CAPN5):c.1894C>A (p.Leu632Ile)
|
rs111264315
|
0.00390
|
|
NM_021098.3(CACNA1H):c.270C>G (p.Arg90=)
|
rs577235589
|
0.00390
|
|
NM_001009944.3(PKD1):c.5611G>A (p.Ala1871Thr)
|
rs144137200
|
0.00389
|
|
NM_005476.7(GNE):c.624T>G (p.Asp208Glu)
|
rs35224402
|
0.00389
|
|
NM_006269.2(RP1):c.5701C>T (p.Leu1901Phe)
|
rs113793810
|
0.00389
|
|
NM_006389.5(HYOU1):c.2031C>T (p.Val677=)
|
rs45450894
|
0.00389
|
|
NM_031885.5(BBS2):c.1110T>C (p.Ala370=)
|
rs148990271
|
0.00389
|
|
NM_173630.4(RTTN):c.4889G>C (p.Arg1630Thr)
|
rs182595458
|
0.00389
|
|
NM_000158.4(GBE1):c.839G>A (p.Gly280Asp)
|
rs28763902
|
0.00388
|
|
NM_001113378.2(FANCI):c.2832A>C (p.Arg944Ser)
|
rs79685648
|
0.00388
|
|
NM_004836.7(EIF2AK3):c.69C>T (p.Leu23=)
|
rs549451772
|
0.00388
|
|
NM_022336.4(EDAR):c.723G>A (p.Glu241=)
|
rs3749108
|
0.00388
|
|
NM_177417.3(KLC3):c.*100C>T
|
rs142103003
|
0.00388
|
|
NM_003072.5(SMARCA4):c.1119-12C>T
|
rs113870824
|
0.00387
|
|
NM_000064.4(C3):c.3958C>A (p.Arg1320=)
|
rs141718696
|
0.00386
|
|
NM_001205293.3(CACNA1E):c.1308C>G (p.Ser436=)
|
rs114088252
|
0.00386
|
|
NM_005035.4(POLRMT):c.178G>A (p.Val60Met)
|
rs139758373
|
0.00386
|
|
NM_021098.3(CACNA1H):c.4224-6C>T
|
rs72552039
|
0.00386
|
|
NM_002547.3(OPHN1):c.2079G>A (p.Met693Ile)
|
rs36095561
|
0.00385
|
|
NM_003072.5(SMARCA4):c.2001+8T>G
|
rs112549813
|
0.00384
|
|
NM_004525.3(LRP2):c.13620+14C>G
|
rs142018904
|
0.00384
|
|
NM_175914.5(HNF4A):c.1137C>T (p.Asn379=)
|
rs61737145
|
0.00384
|
|
NM_000494.4(COL17A1):c.1336G>A (p.Gly446Ser)
|
rs149983875
|
0.00383
|
|
NM_001009944.3(PKD1):c.10234C>T (p.Pro3412Ser)
|
rs149605181
|
0.00383
|
|
NM_001170629.2(CHD8):c.4809G>A (p.Ala1603=)
|
rs61736703
|
0.00383
|
|
NM_001142864.4(PIEZO1):c.4955+3G>A
|
rs569520386
|
0.00382
|
|
NM_005157.6(ABL1):c.249T>G (p.Thr83=)
|
rs111886835
|
0.00382
|
|
NM_181486.4(TBX5):c.331G>T (p.Asp111Tyr)
|
rs77357563
|
0.00382
|
|
NM_001854.4(COL11A1):c.130G>A (p.Ala44Thr)
|
rs150090939
|
0.00381
|
|
NM_001873.4(CPE):c.1422A>G (p.Leu474=)
|
rs112824368
|
0.00381
|
|
NM_003361.4(UMOD):c.1740+18C>T
|
rs113452476
|
0.00381
|
|
NM_003611.3(OFD1):c.2663A>C (p.Lys888Thr)
|
rs149647255
|
0.00381
|
|
NM_032119.4(ADGRV1):c.6318G>A (p.Ala2106=)
|
rs190981860
|
0.00381
|
|
NM_001005337.3(PKP1):c.1336T>C (p.Cys446Arg)
|
rs78672252
|
0.00380
|
|
NM_004134.7(HSPA9):c.21T>G (p.Ala7=)
|
rs36043650
|
0.00380
|
|
NM_000548.5(TSC2):c.1443+18C>T
|
rs375947241
|
0.00379
|
|
NM_000548.5(TSC2):c.948G>A (p.Pro316=)
|
rs45517141
|
0.00379
|
|
NM_001039141.3(TRIOBP):c.265C>G (p.Pro89Ala)
|
rs199646135
|
0.00379
|
|
NM_001375905.1(SGMS2):c.171G>A (p.Pro57=)
|
rs150784082
|
0.00379
|
|
NM_018417.6(ADCY10):c.1020+20T>A
|
rs79093040
|
0.00379
|
|
NM_133433.4(NIPBL):c.1965G>T (p.Glu655Asp)
|
rs80358350
|
0.00379
|
|
NM_201384.3(PLEC):c.4044+16C>T
|
rs182039608
|
0.00379
|
|
NM_206933.4(USH2A):c.15433G>A (p.Val5145Ile)
|
rs111033269
|
0.00379
|
|
NM_207361.6(FREM2):c.8902G>A (p.Val2968Ile)
|
rs116099212
|
0.00379
|
|
NM_001038.6(SCNN1A):c.684+9C>T
|
rs111317117
|
0.00378
|
|
NM_003361.4(UMOD):c.1353C>G (p.Gly451=)
|
rs111904030
|
0.00378
|
|
NM_014669.5(NUP93):c.179+9T>G
|
rs189526861
|
0.00378
|
|
NM_018136.5(ASPM):c.3791G>A (p.Arg1264His)
|
rs150125249
|
0.00378
|
|
NM_021098.3(CACNA1H):c.4314C>T (p.Cys1438=)
|
rs60275734
|
0.00378
|
|
NM_000548.5(TSC2):c.4638C>T (p.Ala1546=)
|
rs45517354
|
0.00377
|
|
NM_000631.5(NCF4):c.254C>A (p.Thr85Asn)
|
rs112306225
|
0.00377
|
|
NM_001130823.3(DNMT1):c.2463C>T (p.Leu821=)
|
rs61750051
|
0.00377
|
|
NM_001957.4(EDNRA):c.1146A>G (p.Ser382=)
|
rs141331809
|
0.00377
|
|
NM_015335.5(MED13L):c.3512A>G (p.Lys1171Arg)
|
rs147863200
|
0.00377
|
|
NM_000256.3(MYBPC3):c.977G>A (p.Arg326Gln)
|
rs34580776
|
0.00376
|
|
NM_000288.4(PEX7):c.377A>C (p.Gln126Pro)
|
rs113268723
|
0.00376
|
|
NM_000381.4(MID1):c.498G>A (p.Pro166=)
|
rs7391874
|
0.00376
|
|
NM_001985.3(ETFB):c.58-96G>A
|
rs140608276
|
0.00376
|
|
NM_022153.2(VSIR):c.839C>T (p.Ser280Leu)
|
rs143240262
|
0.00376
|
|
NM_198252.3(GSN):c.664-4A>G
|
rs143590302
|
0.00376
|
|
NM_001379500.1(COL18A1):c.2032-9T>A
|
rs144913625
|
0.00375
|
|
NM_003619.4(PRSS12):c.2389C>T (p.Arg797Cys)
|
rs35996030
|
0.00375
|
|
NM_003900.5(SQSTM1):c.984G>A (p.Ser328=)
|
rs146164139
|
0.00374
|
|
NM_015102.5(NPHP4):c.3329C>T (p.Ala1110Val)
|
rs139767853
|
0.00374
|
|
NM_000301.5(PLG):c.1281G>A (p.Arg427=)
|
rs149909079
|
0.00373
|
|
NM_005430.4(WNT1):c.264T>A (p.Ser88Arg)
|
rs61758378
|
0.00373
|
|
NM_000237.3(LPL):c.1018+34A>G
|
rs190249506
|
0.00372
|
|
NM_001134707.2(SARDH):c.1299G>A (p.Pro433=)
|
rs147188337
|
0.00372
|
|
NM_000397.4(CYBB):c.1090G>C (p.Gly364Arg)
|
rs141756032
|
0.00371
|
|
NM_001029883.3(PCARE):c.3447G>A (p.Pro1149=)
|
rs200278694
|
0.00371
|
|
NM_001271.4(CHD2):c.2577+7T>C
|
rs146944583
|
0.00371
|
|
NM_006214.4(PHYH):c.126A>G (p.Gln42=)
|
rs150631501
|
0.00371
|
|
NM_006514.4(SCN10A):c.1768G>A (p.Gly590Arg)
|
rs35332705
|
0.00371
|
|
NM_006734.4(HIVEP2):c.5583A>G (p.Ser1861=)
|
rs200660585
|
0.00371
|
|
NM_025215.6(PUS1):c.397G>A (p.Asp133Asn)
|
rs76655496
|
0.00371
|
|
NM_004836.7(EIF2AK3):c.154G>A (p.Ala52Thr)
|
rs201593811
|
0.00370
|
|
NM_024915.4(GRHL2):c.1098+9C>T
|
rs189993760
|
0.00370
|
|
NM_198428.3(BBS9):c.390T>C (p.Asn130=)
|
rs78283245
|
0.00370
|
|
NM_001012759.3(CTU2):c.69-19C>T
|
rs185353598
|
0.00369
|
|
NM_004100.5(EYA4):c.*2918G>A
|
rs75986250
|
0.00369
|
|
NM_015158.5(KANK1):c.3912G>A (p.Ala1304=)
|
rs114114032
|
0.00369
|
|
NM_172351.3(CD46):c.796G>A (p.Asp266Asn)
|
rs17006830
|
0.00369
|
|
NM_001008537.3(NEXMIF):c.3709A>T (p.Met1237Leu)
|
rs61731613
|
0.00368
|
|
NM_144499.3(GNAT1):c.675C>T (p.Ala225=)
|
rs4688684
|
0.00368
|
|
NM_152467.5(KLHL10):c.647A>C (p.Gln216Pro)
|
rs116420871
|
0.00367
|
|
NM_001001557.4(GDF6):c.255G>T (p.Pro85=)
|
rs112296824
|
0.00366
|
|
NM_004064.5(CDKN1B):c.426G>A (p.Thr142=)
|
rs149775942
|
0.00366
|
|
NM_006180.6(NTRK2):c.288-15T>C
|
rs79043758
|
0.00366
|
|
NM_001040142.2(SCN2A):c.2723A>G (p.Lys908Arg)
|
rs2228980
|
0.00365
|
|
NM_025074.7(FRAS1):c.10160T>C (p.Leu3387Pro)
|
rs137982616
|
0.00365
|
|
NM_133433.4(NIPBL):c.535G>A (p.Ala179Thr)
|
rs142923613
|
0.00365
|
|
NM_000810.4(GABRA5):c.585G>A (p.Ala195=)
|
rs149156018
|
0.00364
|
|
NM_001009944.3(PKD1):c.4845C>T (p.Asn1615=)
|
rs141557400
|
0.00364
|
|
NM_004618.5(TOP3A):c.2317A>G (p.Asn773Asp)
|
rs9911283
|
0.00364
|
|
NM_004656.4(BAP1):c.1729+8T>C
|
rs150945583
|
0.00364
|
|
NM_001852.4(COL9A2):c.1323+18T>G
|
rs186166446
|
0.00363
|
|
NM_005857.5(ZMPSTE24):c.954+3G>A
|
rs112612481
|
0.00363
|
|
NM_032444.4(SLX4):c.5029C>T (p.Pro1677Ser)
|
rs7196345
|
0.00363
|
|
NM_003361.4(UMOD):c.1062C>T (p.Phe354=)
|
rs78613713
|
0.00362
|
|
NM_005228.5(EGFR):c.3485G>A (p.Ser1162Asn)
|
rs41321844
|
0.00362
|
|
NM_014975.3(MAST1):c.1530C>T (p.His510=)
|
rs35952311
|
0.00362
|
|
NM_213595.4(ISCU):c.10G>C (p.Ala4Pro)
|
rs558084375
|
0.00362
|
|
NM_001365999.1(SZT2):c.4531G>A (p.Val1511Ile)
|
rs76675748
|
0.00361
|
|
NM_004357.5(CD151):c.703-18A>G
|
rs35465458
|
0.00361
|
|
NM_000093.5(COL5A1):c.1333-8A>G
|
rs145620416
|
0.00360
|
|
NM_004333.6(BRAF):c.1141-19C>T
|
rs71645959
|
0.00360
|
|
NM_014862.4(ARNT2):c.2007C>T (p.Ser669=)
|
rs61753570
|
0.00360
|
|
NM_005445.4(SMC3):c.2644+6T>A
|
rs201281088
|
0.00359
|
|
NM_005850.5(SF3B4):c.735C>T (p.Pro245=)
|
rs113949235
|
0.00359
|
|
NM_006565.4(CTCF):c.1702-10T>C
|
rs151017109
|
0.00359
|
|
NM_016341.4(PLCE1):c.6518A>G (p.Lys2173Arg)
|
rs111929795
|
0.00359
|
|
NM_024301.5(FKRP):c.427C>A (p.Arg143Ser)
|
rs148206382
|
0.00359
|
|
NM_033343.4(LHX4):c.690C>T (p.Ser230=)
|
rs111822893
|
0.00359
|
|
NM_001371986.1(UNC80):c.8589G>A (p.Ala2863=)
|
rs192024023
|
0.00357
|
|
NM_006612.6(KIF1C):c.183+17G>C
|
rs113047933
|
0.00357
|
|
NM_007186.6(CEP250):c.2391C>T (p.Val797=)
|
rs111853969
|
0.00357
|
|
NM_000255.4(MMUT):c.1083+20T>C
|
rs200148994
|
0.00356
|
|
NM_002087.4(GRN):c.545C>T (p.Thr182Met)
|
rs63750479
|
0.00356
|
|
NM_004279.3(PMPCB):c.935G>A (p.Cys312Tyr)
|
rs1057797
|
0.00356
|
|
NM_025074.7(FRAS1):c.776T>G (p.Leu259Arg)
|
rs148509395
|
0.00356
|
|
NM_001323289.2(CDKL5):c.145+17A>G
|
rs199814742
|
0.00355
|
|
NM_004453.4(ETFDH):c.381C>T (p.Leu127=)
|
rs149278633
|
0.00355
|
|
NM_018062.4(FANCL):c.670A>G (p.Thr224Ala)
|
rs149731356
|
0.00355
|
|
NM_000531.6(OTC):c.-366A>G
|
rs191615506
|
0.00354
|
|
NM_001039.4(SCNN1G):c.1570-9G>A
|
rs72647540
|
0.00354
|
|
NM_001142864.4(PIEZO1):c.2330-16C>T
|
rs9940889
|
0.00354
|
|
NM_001144967.3(NEDD4L):c.698C>T (p.Ser233Leu)
|
rs202231187
|
0.00354
|
|
NM_001145026.2(PTPRQ):c.3607T>C (p.Tyr1203His)
|
rs61729273
|
0.00354
|
|
NM_001289104.2(PRKCSH):c.469-10G>A
|
rs188022793
|
0.00354
|
|
NM_005589.4(ALDH6A1):c.414A>G (p.Val138=)
|
rs4899491
|
0.00354
|
|
NM_017780.4(CHD7):c.6282A>G (p.Gly2094=)
|
rs41312172
|
0.00354
|
|
NM_001101.5(ACTB):c.426G>T (p.Leu142=)
|
rs79074016
|
0.00353
|
|
NM_006734.4(HIVEP2):c.4293C>T (p.Ser1431=)
|
rs34191067
|
0.00353
|
|
NM_014014.5(SNRNP200):c.3654C>T (p.Ser1218=)
|
rs3214060
|
0.00353
|
|
NM_000271.5(NPC1):c.3441C>T (p.Ile1147=)
|
rs116436235
|
0.00352
|
|
NM_000335.5(SCN5A):c.1381T>G (p.Leu461Val)
|
rs41313697
|
0.00352
|
|
NM_001242882.2(NAXD):c.102T>A (p.Asn34Lys)
|
rs35779668
|
0.00352
|
|
NM_001374353.1(GLI2):c.4612T>C (p.Ser1538Pro)
|
rs144372453
|
0.00352
|
|
NM_005633.4(SOS1):c.2997T>C (p.Asn999=)
|
rs145364368
|
0.00352
|
|
NM_001032386.2(SUOX):c.629C>T (p.Pro210Leu)
|
rs141735896
|
0.00351
|
|
NM_000702.4(ATP1A2):c.2943-15C>T
|
rs111510835
|
0.00350
|
|
NM_000743.5(CHRNA3):c.1197C>T (p.Asp399=)
|
rs56403513
|
0.00350
|
|
NM_006389.5(HYOU1):c.2888-13C>G
|
rs115207968
|
0.00350
|
|
NM_006929.5(SKIC2):c.2574G>A (p.Val858=)
|
rs139281450
|
0.00350
|
|
NM_001009944.3(PKD1):c.11346C>T (p.Asp3782=)
|
rs145955373
|
0.00349
|
|
NM_001735.3(C5):c.3033G>C (p.Glu1011Asp)
|
rs150096192
|
0.00349
|
|
NM_004370.6(COL12A1):c.4000+5G>A
|
rs181257320
|
0.00349
|
|
NM_017662.5(TRPM6):c.5550A>G (p.Gln1850=)
|
rs35618857
|
0.00349
|
|
NM_139027.6(ADAMTS13):c.1786+16G>A
|
rs36220948
|
0.00349
|
|
NM_000338.3(SLC12A1):c.2198C>T (p.Ala733Val)
|
rs141858745
|
0.00348
|
|
NM_000455.5(STK11):c.1062C>G (p.Phe354Leu)
|
rs59912467
|
0.00348
|
|
NM_000484.4(APP):c.2124C>T (p.Gly708=)
|
rs148888161
|
0.00348
|
|
NM_012275.3(IL36RN):c.140A>G (p.Asn47Ser)
|
rs28938777
|
0.00348
|
|
NM_000334.4(SCN4A):c.5190C>T (p.Cys1730=)
|
rs113277954
|
0.00347
|
|
NM_001321967.2(ATAD1):c.657C>G (p.Leu219=)
|
rs116195084
|
0.00347
|
|
NM_002693.3(POLG):c.1126C>T (p.Leu376=)
|
rs116165908
|
0.00347
|
|
NM_003334.4(UBA1):c.1702C>G (p.Leu568Val)
|
rs150574055
|
0.00347
|
|
NM_000719.7(CACNA1C):c.109G>A (p.Gly37Arg)
|
rs34534613
|
0.00346
|
|
NM_003114.5(SPAG1):c.1584G>A (p.Ala528=)
|
rs35252724
|
0.00346
|
|
NM_030943.4(AMN):c.208-10T>C
|
rs115851517
|
0.00345
|
|
NM_001366385.1(CARD14):c.1917C>T (p.Ala639=)
|
rs79407194
|
0.00344
|
|
NM_153704.6(TMEM67):c.507-19T>C
|
rs138589757
|
0.00344
|
|
NM_001849.4(COL6A2):c.510C>T (p.Cys170=)
|
rs142328765
|
0.00343
|
|
NM_015330.6(SPECC1L):c.1359C>T (p.Ser453=)
|
rs143055101
|
0.00343
|
|
NM_147191.1(MMP21):c.697+10C>G
|
rs28381286
|
0.00343
|
|
NM_000142.5(FGFR3):c.1150T>C (p.Phe384Leu)
|
rs17881656
|
0.00342
|
|
NM_000342.4(SLC4A1):c.216G>T (p.Glu72Asp)
|
rs13306788
|
0.00342
|
|
NM_001042681.2(RERE):c.1524C>T (p.Arg508=)
|
rs139299521
|
0.00342
|
|
NM_004525.3(LRP2):c.149C>G (p.Thr50Ser)
|
rs114460450
|
0.00342
|
|
NM_006231.4(POLE):c.2468+10C>T
|
rs5744823
|
0.00342
|
|
NM_015047.3(EMC1):c.787-13T>C
|
rs143475773
|
0.00342
|
|
NM_139027.6(ADAMTS13):c.1705+14C>T
|
rs191816433
|
0.00342
|
|
NM_183357.3(ADCY5):c.3375C>T (p.Ile1125=)
|
rs113566464
|
0.00342
|
|
NM_000123.4(ERCC5):c.641G>A (p.Arg214His)
|
rs146833751
|
0.00341
|
|
NM_004281.4(BAG3):c.606G>T (p.Pro202=)
|
rs74157690
|
0.00341
|
|
NM_000093.5(COL5A1):c.2439C>T (p.Asp813=)
|
rs148648778
|
0.00340
|
|
NM_000180.4(GUCY2D):c.1371C>T (p.Cys457=)
|
rs55916957
|
0.00340
|
|
NM_000426.4(LAMA2):c.6150T>C (p.Asp2050=)
|
rs114766691
|
0.00339
|
|
NM_030632.3(ASXL3):c.4817G>A (p.Arg1606Gln)
|
rs116363417
|
0.00339
|
|
NM_080680.3(COL11A2):c.2186G>A (p.Arg729Gln)
|
rs61730262
|
0.00339
|
|
NM_000089.4(COL1A2):c.1036-14G>A
|
rs114322680
|
0.00338
|
|
NM_004064.5(CDKN1B):c.577C>T (p.Leu193Phe)
|
rs73281150
|
0.00338
|
|
NM_020754.4(ARHGAP31):c.820C>T (p.Pro274Ser)
|
rs139600783
|
0.00337
|
|
NM_022773.4(LMF1):c.384G>C (p.Leu128Phe)
|
rs115313199
|
0.00337
|
|
NM_004586.3(RPS6KA3):c.213A>G (p.Leu71=)
|
rs56338023
|
0.00336
|
|
NM_001171.6(ABCC6):c.1636-10C>T
|
rs61480102
|
0.00335
|
|
NM_000135.4(FANCA):c.932T>C (p.Ile311Thr)
|
rs75501942
|
0.00334
|
|
NM_000562.3(C8A):c.1331G>A (p.Arg444His)
|
rs143908758
|
0.00334
|
|
NM_004519.4(KCNQ3):c.2168G>A (p.Gly723Glu)
|
rs142149782
|
0.00334
|
|
NM_004924.6(ACTN4):c.1218C>A (p.Arg406=)
|
rs148259739
|
0.00334
|
|
NM_004998.4(MYO1E):c.2304C>T (p.Asp768=)
|
rs145459485
|
0.00334
|
|
NM_014008.5(CCDC22):c.536-7C>T
|
rs191605685
|
0.00334
|
|
NM_018941.4(CLN8):c.777T>C (p.Asn259=)
|
rs34814682
|
0.00334
|
|
NM_020919.4(ALS2):c.475G>A (p.Glu159Lys)
|
rs3219155
|
0.00334
|
|
NM_138387.4(G6PC3):c.815A>G (p.Gln272Arg)
|
rs34491309
|
0.00334
|
|
NM_001386298.1(CIC):c.3933A>G (p.Ala1311=)
|
rs112950169
|
0.00333
|
|
NM_001320752.2(STS):c.383-16C>T
|
rs56055086
|
0.00332
|
|
NM_002250.3(KCNN4):c.820-2dup
|
rs574008067
|
0.00332
|
|
NM_002972.4(SBF1):c.5604T>C (p.Val1868=)
|
rs141053122
|
0.00332
|
|
NM_020812.4(DOCK6):c.1833-19C>G
|
rs188183013
|
0.00332
|
|
NM_133379.5(TTN):c.12067G>A (p.Gly4023Arg)
|
rs143253411
|
0.00332
|
|
NM_153252.5(BRWD3):c.4572C>T (p.Phe1524=)
|
rs34984796
|
0.00332
|
|
NM_000313.4(PROS1):c.1528G>A (p.Val510Met)
|
rs138925964
|
0.00331
|
|
NM_001009944.3(PKD1):c.9111G>A (p.Ser3037=)
|
rs57870377
|
0.00331
|
|
NM_006267.5(RANBP2):c.-41G>T
|
rs372373398
|
0.00331
|
|
NM_006662.3(SRCAP):c.4596A>C (p.Ser1532=)
|
rs114204931
|
0.00331
|
|
NM_000748.3(CHRNB2):c.1233G>A (p.Ala411=)
|
rs55857552
|
0.00330
|
|
NM_004629.2(FANCG):c.238C>T (p.Leu80=)
|
rs115131067
|
0.00330
|
|
NM_020066.5(FMN2):c.5136T>G (p.Ser1712=)
|
rs143796494
|
0.00330
|
|
NM_020812.4(DOCK6):c.1289G>A (p.Arg430His)
|
rs143655255
|
0.00330
|
|
NM_000053.4(ATP7B):c.2175G>A (p.Arg725=)
|
rs61733684
|
0.00329
|
|
NM_001099274.3(TINF2):c.1236C>T (p.Asn412=)
|
rs117234138
|
0.00329
|
|
NM_001287491.2(TET3):c.2805C>T (p.Leu935=)
|
rs115293949
|
0.00329
|
|
NM_014918.5(CHSY1):c.1325T>C (p.Met442Thr)
|
rs148193087
|
0.00329
|
|
NM_201384.3(PLEC):c.8445T>C (p.Val2815=)
|
rs371421350
|
0.00329
|
|
NM_000528.4(MAN2B1):c.1581G>A (p.Arg527=)
|
rs149613968
|
0.00328
|
|
NM_001009944.3(PKD1):c.10304G>A (p.Arg3435Gln)
|
rs140189010
|
0.00328
|
|
NM_015443.4(KANSL1):c.773T>C (p.Leu258Ser)
|
rs145714368
|
0.00328
|
|
NM_057176.3(BSND):c.459C>T (p.Asp153=)
|
rs138974602
|
0.00328
|
|
NM_001127898.4(CLCN5):c.1257C>T (p.Thr419=)
|
rs144901347
|
0.00327
|
|
NM_020751.3(COG6):c.1180A>G (p.Asn394Asp)
|
rs34623774
|
0.00327
|
|
NM_032638.5(GATA2):c.710G>A (p.Gly237Asp)
|
rs191501191
|
0.00327
|
|
NM_001080414.4(CCDC88C):c.4287C>T (p.Thr1429=)
|
rs146028766
|
0.00326
|
|
NM_001267550.2(TTN):c.9150A>G (p.Thr3050=)
|
rs72647886
|
0.00326
|
|
NM_001308093.3(GATA4):c.1235C>T (p.Ala412Val)
|
rs55633527
|
0.00326
|
|
NM_002087.4(GRN):c.1227G>A (p.Thr409=)
|
rs140298583
|
0.00326
|
|
NM_006087.4(TUBB4A):c.906G>A (p.Ala302=)
|
rs144969662
|
0.00326
|
|
NM_005515.4(MNX1):c.372T>C (p.Ala124=)
|
rs867470183
|
0.00325
|
|
NM_207361.6(FREM2):c.8460C>G (p.Ala2820=)
|
rs138775857
|
0.00325
|
|
NM_000153.4(GALC):c.96G>T (p.Leu32=)
|
rs113719127
|
0.00324
|
|
NM_001009944.3(PKD1):c.4018C>T (p.Arg1340Trp)
|
rs143690392
|
0.00324
|
|
NM_001009944.3(PKD1):c.6363C>T (p.Arg2121=)
|
rs138648495
|
0.00324
|
|
NM_001164508.2(NEB):c.1675-9T>G
|
rs75118047
|
0.00324
|
|
NM_001261826.3(AP3D1):c.463-4G>A
|
rs192634153
|
0.00324
|
|
NM_017570.5(OPLAH):c.471G>A (p.Thr157=)
|
rs145079111
|
0.00324
|
|
NM_020401.4(NUP107):c.353G>A (p.Arg118His)
|
rs34347775
|
0.00324
|
|
NM_024884.3(L2HGDH):c.6G>T (p.Val2=)
|
rs113626637
|
0.00324
|
|
NM_033004.4(NLRP1):c.316G>A (p.Gly106Arg)
|
rs72827640
|
0.00324
|
|
NM_001017420.3(ESCO2):c.1076A>C (p.Gln359Pro)
|
rs57479434
|
0.00323
|
|
NM_001372.4(DNAH9):c.9543G>A (p.Pro3181=)
|
rs117483481
|
0.00323
|
|
NM_000162.5(GCK):c.1019+18G>A
|
rs150914617
|
0.00322
|
|
NM_001134407.3(GRIN2A):c.662A>G (p.Lys221Arg)
|
rs61731464
|
0.00322
|
|
NM_002335.4(LRP5):c.2139G>A (p.Val713=)
|
rs34369535
|
0.00322
|
|
NM_000308.4(CTSA):c.1287G>A (p.Lys429=)
|
rs41282776
|
0.00321
|
|
NM_001136191.3(KANK2):c.10G>A (p.Val4Ile)
|
rs139512726
|
0.00321
|
|
NM_004793.4(LONP1):c.1309G>A (p.Val437Ile)
|
rs139554429
|
0.00321
|
|
NM_197968.4(ZMYM2):c.454G>C (p.Asp152His)
|
rs35516773
|
0.00321
|
|
NM_001039213.4(CEACAM16):c.234C>T (p.Gly78=)
|
rs73568059
|
0.00319
|
|
NM_002144.4(HOXB1):c.283C>A (p.Pro95Thr)
|
rs150583509
|
0.00319
|
|
NM_004285.4(H6PD):c.1053C>T (p.Gly351=)
|
rs34448374
|
0.00319
|
|
NM_033022.4(RPS24):c.*11G>A
|
rs139289215
|
0.00319
|
|
NM_001037333.3(CYFIP2):c.3336G>A (p.Pro1112=)
|
rs114967929
|
0.00318
|
|
NM_002900.3(RBP3):c.1296G>A (p.Val432=)
|
rs147336433
|
0.00318
|
|
NM_000029.4(AGT):c.410C>T (p.Thr137Met)
|
rs34829218
|
0.00316
|
|
NM_000789.4(ACE):c.1681C>T (p.Arg561Trp)
|
rs4314
|
0.00316
|
|
NM_001009944.3(PKD1):c.3296-15G>A
|
rs201704201
|
0.00316
|
|
NM_018979.4(WNK1):c.3654A>G (p.Ser1218=)
|
rs141971833
|
0.00316
|
|
NM_003482.4(KMT2D):c.6180C>T (p.Tyr2060=)
|
rs186577948
|
0.00315
|
|
NM_014270.5(SLC7A9):c.978-17G>A
|
rs45628833
|
0.00315
|
|
NM_001042413.2(GLIS3):c.1318A>G (p.Thr440Ala)
|
rs80161424
|
0.00314
|
|
NM_005529.7(HSPG2):c.10498G>A (p.Val3500Met)
|
rs143543800
|
0.00313
|
|
NM_013444.4(UBQLN2):c.1383G>A (p.Gly461=)
|
rs142250604
|
0.00313
|
|
NM_000297.4(PKD2):c.2420G>A (p.Arg807Gln)
|
rs147654263
|
0.00312
|
|
NM_001374828.1(ARID1B):c.3768C>T (p.Thr1256=)
|
rs142391292
|
0.00312
|
|
NM_002292.4(LAMB2):c.3858G>T (p.Val1286=)
|
rs34967349
|
0.00312
|
|
NM_003647.3(DGKE):c.798T>A (p.Leu266=)
|
rs61751970
|
0.00312
|
|
NM_175875.5(SIX5):c.1963C>T (p.Leu655=)
|
rs151072042
|
0.00312
|
|
NM_004360.5(CDH1):c.1774G>A (p.Ala592Thr)
|
rs35187787
|
0.00311
|
|
NM_019109.5(ALG1):c.539+16G>A
|
rs189715949
|
0.00311
|
|
NM_001032221.6(STXBP1):c.325+8C>T
|
rs117372398
|
0.00310
|
|
NM_004560.4(ROR2):c.937+10C>T
|
rs201083970
|
0.00310
|
|
NM_001042492.3(NF1):c.340C>T (p.Leu114=)
|
rs7207410
|
0.00309
|
|
NM_001372051.1(CASP8):c.339C>T (p.Ser113=)
|
rs17860422
|
0.00309
|
|
NM_002471.4(MYH6):c.1071C>T (p.Ile357=)
|
rs58131640
|
0.00309
|
|
NM_005157.6(ABL1):c.822+16C>G
|
rs12551730
|
0.00309
|
|
NM_017947.4(MOCOS):c.1539A>G (p.Ala513=)
|
rs76486529
|
0.00309
|
|
NM_020312.4(COQ9):c.379-16G>C
|
rs62037144
|
0.00309
|
|
NM_182914.3(SYNE2):c.20117G>A (p.Arg6706Gln)
|
rs35831865
|
0.00309
|
|
NM_000019.4(ACAT1):c.1068T>C (p.Phe356=)
|
rs139657823
|
0.00308
|
|
NM_001110792.2(MECP2):c.1225G>A (p.Glu409Lys)
|
rs56268439
|
0.00308
|
|
NM_001277115.2(DNAH11):c.3045G>T (p.Glu1015Asp)
|
rs72657303
|
0.00308
|
|
NM_181776.3(SLC36A2):c.1191C>T (p.Ala397=)
|
rs149847490
|
0.00308
|
|
NM_000059.4(BRCA2):c.3869G>A (p.Cys1290Tyr)
|
rs41293485
|
0.00307
|
|
NM_002661.5(PLCG2):c.2355C>T (p.Ser785=)
|
rs185307548
|
0.00307
|
|
NM_198525.3(KIF7):c.1429G>A (p.Ala477Thr)
|
rs527804875
|
0.00307
|
|
NM_000435.3(NOTCH3):c.2202C>T (p.Ala734=)
|
rs140040122
|
0.00306
|
|
NM_000548.5(TSC2):c.4285G>T (p.Ala1429Ser)
|
rs45474795
|
0.00306
|
|
NM_001177316.2(SLC34A3):c.1512C>T (p.Phe504=)
|
rs146854507
|
0.00306
|
|
NM_002354.3(EPCAM):c.491+19A>T
|
rs114475602
|
0.00306
|
|
NM_004525.3(LRP2):c.2456G>A (p.Arg819His)
|
rs142080405
|
0.00306
|
|
NM_024408.4(NOTCH2):c.1567+12C>T
|
rs78223268
|
0.00306
|
|
NM_025114.4(CEP290):c.6960+10G>A
|
rs75011402
|
0.00305
|
|
NM_032043.3(BRIP1):c.577G>A (p.Val193Ile)
|
rs4988346
|
0.00305
|
|
NM_001111.5(ADAR):c.2553C>T (p.Cys851=)
|
rs138927668
|
0.00304
|
|
NM_001199107.2(TBC1D24):c.1427C>A (p.Ala476Asp)
|
rs202216463
|
0.00304
|
|
NM_001374623.1(PNPLA1):c.745G>A (p.Glu249Lys)
|
rs45524833
|
0.00304
|
|
NM_004656.4(BAP1):c.1026C>T (p.Ser342=)
|
rs71651686
|
0.00304
|
|
NM_005633.4(SOS1):c.2673+14T>C
|
rs183998234
|
0.00304
|
|
NM_031844.3(HNRNPU):c.1743+8G>T
|
rs75674611
|
0.00304
|
|
NM_006412.4(AGPAT2):c.493-17C>A
|
rs376439157
|
0.00303
|
|
NM_015295.3(SMCHD1):c.4808C>T (p.Thr1603Ile)
|
rs147034750
|
0.00303
|
|
NM_000187.4(HGD):c.711C>A (p.Arg237=)
|
rs147204182
|
0.00302
|
|
NM_001177316.2(SLC34A3):c.1482C>T (p.Leu494=)
|
rs28510663
|
0.00302
|
|
NM_198252.3(GSN):c.243C>T (p.Thr81=)
|
rs116956127
|
0.00302
|
|
NM_001122955.4(BSCL2):c.1280T>C (p.Leu427Pro)
|
rs145649423
|
0.00301
|
|
NM_004519.4(KCNQ3):c.1236-16C>T
|
rs201168632
|
0.00301
|
|
NM_001365276.2(TNXB):c.2385A>G (p.Thr795=)
|
rs185461070
|
0.00300
|
|
NM_001792.5(CDH2):c.885C>T (p.Asp295=)
|
rs17493618
|
0.00300
|
|
NM_012096.3(APPL1):c.1262C>T (p.Pro421Leu)
|
rs35776173
|
0.00300
|
|
NM_015214.3(DDHD2):c.1127A>G (p.Asp376Gly)
|
rs148664622
|
0.00300
|
|
NM_052867.4(NALCN):c.3735A>G (p.Ser1245=)
|
rs111383689
|
0.00300
|
|
NM_001985.3(ETFB):c.58-212A>C
|
rs143144671
|
0.00299
|
|
NM_006445.4(PRPF8):c.2493C>G (p.Ser831=)
|
rs146749363
|
0.00299
|
|
NM_020361.5(CPA6):c.975A>G (p.Ala325=)
|
rs138313759
|
0.00299
|
|
NM_032119.4(ADGRV1):c.8133C>T (p.Ser2711=)
|
rs116446814
|
0.00299
|
|
NM_001363711.2(DUOX2):c.700C>T (p.Pro234Ser)
|
rs553859355
|
0.00298
|
|
NM_003052.5(SLC34A1):c.398C>T (p.Ala133Val)
|
rs148976897
|
0.00298
|
|
NM_003611.3(OFD1):c.1923G>A (p.Glu641=)
|
rs145300245
|
0.00298
|
|
NM_005751.5(AKAP9):c.2425A>G (p.Ile809Val)
|
rs144615758
|
0.00298
|
|
NM_000195.5(HPS1):c.1683C>T (p.Cys561=)
|
rs112337765
|
0.00297
|
|
NM_000249.4(MLH1):c.1963A>G (p.Ile655Val)
|
rs55907433
|
0.00297
|
|
NM_000505.3(F12):c.-57G>C
|
rs41309132
|
0.00297
|
|
NM_000901.5(NR3C2):c.1898-4T>C
|
rs72653856
|
0.00297
|
|
NM_003238.6(TGFB2):c.272G>A (p.Arg91His)
|
rs10482721
|
0.00297
|
|
NM_019055.6(ROBO4):c.1985G>A (p.Gly662Asp)
|
rs145067866
|
0.00297
|
|
NM_020632.3(ATP6V0A4):c.2481A>G (p.Pro827=)
|
rs6956646
|
0.00297
|
|
NM_000292.3(PHKA2):c.2806+13C>A
|
rs186550641
|
0.00296
|
|
NM_001029883.3(PCARE):c.3522C>T (p.Asp1174=)
|
rs188815175
|
0.00296
|
|
NM_001099922.3(ALG13):c.2799T>A (p.Pro933=)
|
rs13440710
|
0.00296
|
|
NM_001360.3(DHCR7):c.1341C>T (p.Asp447=)
|
rs139721775
|
0.00296
|
|
NM_002691.4(POLD1):c.783C>T (p.Val261=)
|
rs34269084
|
0.00296
|
|
NM_004525.3(LRP2):c.5538+10C>T
|
rs115659204
|
0.00296
|
|
NM_005751.5(AKAP9):c.10858A>G (p.Ile3620Val)
|
rs142729919
|
0.00296
|
|
NM_031475.3(ESPN):c.1386A>G (p.Val462=)
|
rs150033799
|
0.00296
|
|
NM_183357.3(ADCY5):c.2481C>A (p.Ile827=)
|
rs75494273
|
0.00296
|
|
NM_000435.3(NOTCH3):c.2411-4C>G
|
rs190177286
|
0.00295
|
|
NM_002206.3(ITGA7):c.2701A>G (p.Ile901Val)
|
rs113651939
|
0.00295
|
|
NM_002691.4(POLD1):c.778A>G (p.Ile260Val)
|
rs8105725
|
0.00295
|
|
NM_003722.5(TP63):c.1531C>A (p.Pro511Thr)
|
rs148076109
|
0.00295
|
|
NM_004608.4(TBX6):c.1010C>T (p.Pro337Leu)
|
rs149105120
|
0.00295
|
|
NM_021098.3(CACNA1H):c.5445+4C>T
|
rs147142971
|
0.00295
|
|
NM_144666.3(DNHD1):c.2839G>T (p.Glu947Ter)
|
rs180918289
|
0.00295
|
|
NM_000133.4(F9):c.967G>A (p.Glu323Lys)
|
rs150351950
|
0.00294
|
|
NM_002661.5(PLCG2):c.600A>G (p.Glu200=)
|
rs142140333
|
0.00294
|
|
NM_003482.4(KMT2D):c.12867C>T (p.Leu4289=)
|
rs202082835
|
0.00294
|
|
NM_005689.4(ABCB6):c.688-9C>T
|
rs146410593
|
0.00294
|
|
NM_144687.4(NLRP12):c.1437G>A (p.Gln479=)
|
rs77667763
|
0.00294
|
|
NM_001792.5(CDH2):c.702+6A>T
|
rs17493682
|
0.00293
|
|
NM_004933.3(CDH15):c.387A>G (p.Gly129=)
|
rs147301479
|
0.00293
|
|
NM_012208.4(HARS2):c.1105G>C (p.Gly369Arg)
|
rs61736946
|
0.00293
|
|
NM_030667.3(PTPRO):c.2406T>C (p.Ser802=)
|
rs61741744
|
0.00293
|
|
NM_001372.4(DNAH9):c.11921A>T (p.Lys3974Met)
|
rs111574749
|
0.00292
|
|
NM_025074.7(FRAS1):c.790-20C>T
|
rs74461034
|
0.00292
|
|
NM_001282225.2(ADA2):c.1081+18G>A
|
rs200622282
|
0.00291
|
|
NM_005726.6(TSFM):c.232-19T>G
|
rs112348190
|
0.00291
|
|
NM_006231.4(POLE):c.846C>T (p.Pro282=)
|
rs5744758
|
0.00291
|
|
NM_001034852.3(SMOC1):c.567G>A (p.Pro189=)
|
rs142590267
|
0.00290
|
|
NM_001081.4(CUBN):c.2103A>G (p.Thr701=)
|
rs143693723
|
0.00290
|
|
NM_001354483.2(CSGALNACT1):c.1439G>A (p.Arg480His)
|
rs144295336
|
0.00290
|
|
NM_002204.4(ITGA3):c.207-18C>T
|
rs116146771
|
0.00290
|
|
NM_014714.4(IFT140):c.2988T>C (p.Asn996=)
|
rs78178397
|
0.00290
|
|
NM_020638.3(FGF23):c.423G>T (p.Ala141=)
|
rs13312792
|
0.00290
|
|
NM_020928.2(ZSWIM6):c.1722C>T (p.Asp574=)
|
rs187525163
|
0.00290
|
|
NM_000540.3(RYR1):c.425-19A>G
|
rs193169917
|
0.00289
|
|
NM_001042681.2(RERE):c.3696C>T (p.Phe1232=)
|
rs141711704
|
0.00289
|
|
NM_001098484.3(SLC4A4):c.550+3A>G
|
rs199790542
|
0.00289
|
|
NM_001278064.2(GRM1):c.2043T>C (p.Arg681=)
|
rs143682838
|
0.00289
|
|
NM_020661.4(AICDA):c.74G>A (p.Arg25His)
|
rs61730095
|
0.00289
|
|
NM_001278064.2(GRM1):c.2496T>C (p.Thr832=)
|
rs142675468
|
0.00288
|
|
NM_001376.5(DYNC1H1):c.11942C>G (p.Thr3981Arg)
|
rs138428684
|
0.00288
|
|
NM_004525.3(LRP2):c.1869C>T (p.Ala623=)
|
rs148468966
|
0.00288
|
|
NM_020919.4(ALS2):c.2842-20C>T
|
rs189282198
|
0.00288
|
|
NM_000162.5(GCK):c.954G>C (p.Gly318=)
|
rs145764627
|
0.00287
|
|
NM_000548.5(TSC2):c.4269G>A (p.Leu1423=)
|
rs45438898
|
0.00287
|
|
NM_001080414.4(CCDC88C):c.969C>T (p.Asn323=)
|
rs61737660
|
0.00287
|
|
NM_001127178.3(PIGG):c.2204G>A (p.Arg735Gln)
|
rs138345843
|
0.00287
|
|
NM_001283.5(AP1S1):c.117C>G (p.Val39=)
|
rs148305541
|
0.00287
|
|
NM_001830.4(CLCN4):c.1758G>A (p.Val586=)
|
rs143437511
|
0.00287
|
|
NM_004187.5(KDM5C):c.3540G>A (p.Thr1180=)
|
rs76525703
|
0.00287
|
|
NM_015047.3(EMC1):c.884T>C (p.Leu295Ser)
|
rs3850531
|
0.00287
|
|
NM_024675.4(PALB2):c.2590C>T (p.Pro864Ser)
|
rs45568339
|
0.00287
|
|
NM_000135.4(FANCA):c.3891G>A (p.Lys1297=)
|
rs17227361
|
0.00286
|
|
NM_000503.6(EYA1):c.840C>A (p.Ile280=)
|
rs55972891
|
0.00286
|
|
NM_005879.3(TRAIP):c.99-9T>G
|
rs181861135
|
0.00286
|
|
NM_016356.5(DCDC2):c.1044C>T (p.Asp348=)
|
rs143313706
|
0.00286
|
|
NM_000085.5(CLCNKB):c.1154A>G (p.Gln385Arg)
|
rs35258749
|
0.00285
|
|
NM_001130438.3(SPTAN1):c.931-16C>T
|
rs149289060
|
0.00285
|
|
NM_005689.4(ABCB6):c.1361T>C (p.Val454Ala)
|
rs61733629
|
0.00285
|
|
NM_181741.4(ORC4):c.604T>G (p.Leu202Val)
|
rs73003466
|
0.00285
|
|
NM_000490.5(AVP):c.150C>A (p.Gly50=)
|
rs371697622
|
0.00284
|
|
NM_001014987.2(LAT):c.318T>C (p.Ser106=)
|
rs140327086
|
0.00284
|
|
NM_001453.3(FOXC1):c.1333A>C (p.Ser445Arg)
|
rs75089353
|
0.00284
|
|
NM_003978.5(PSTPIP1):c.236C>T (p.Ser79Phe)
|
rs77026017
|
0.00284
|
|
NM_004447.6(EPS8):c.1653G>A (p.Ser551=)
|
rs75362705
|
0.00284
|
|
NM_014875.3(KIF14):c.4842C>T (p.Asp1614=)
|
rs12024960
|
0.00284
|
|
NM_182961.4(SYNE1):c.12170C>T (p.Pro4057Leu)
|
rs150179494
|
0.00284
|
|
NM_000093.5(COL5A1):c.2058G>A (p.Pro686=)
|
rs143443499
|
0.00283
|
|
NM_000271.5(NPC1):c.1532C>T (p.Thr511Met)
|
rs13381670
|
0.00283
|
|
NM_021813.4(BACH2):c.15G>A (p.Glu5=)
|
rs45447599
|
0.00283
|
|
NM_181776.3(SLC36A2):c.915C>T (p.Ile305=)
|
rs138947074
|
0.00283
|
|
NM_001277062.2(MFF):c.92C>T (p.Pro31Leu)
|
rs149692814
|
0.00282
|
|
NM_005559.4(LAMA1):c.1183C>T (p.Arg395Cys)
|
rs148751644
|
0.00282
|
|
NM_005631.5(SMO):c.621C>T (p.Tyr207=)
|
rs56318556
|
0.00282
|
|
NM_201596.3(CACNB2):c.915T>C (p.Phe305=)
|
rs149586418
|
0.00282
|
|
NM_000260.4(MYO7A):c.905G>A (p.Arg302His)
|
rs41298135
|
0.00281
|
|
NM_001330691.3(CEP78):c.1566C>T (p.Gly522=)
|
rs199743218
|
0.00281
|
|
NM_001371928.1(AHDC1):c.811C>G (p.Pro271Ala)
|
rs200660997
|
0.00281
|
|
NM_014795.4(ZEB2):c.2141C>T (p.Pro714Leu)
|
rs112581563
|
0.00281
|
|
NM_000029.4(AGT):c.912C>T (p.Asn304=)
|
rs61757178
|
0.00280
|
|
NM_004525.3(LRP2):c.92C>T (p.Ala31Val)
|
rs144829356
|
0.00280
|
|
NM_001184.4(ATR):c.7504-16A>G
|
rs111927479
|
0.00279
|
|
NM_001303256.3(MORC2):c.226+18T>C
|
rs114021247
|
0.00279
|
|
NM_001844.5(COL2A1):c.2334C>T (p.Ala778=)
|
rs35504014
|
0.00278
|
|
NM_004370.6(COL12A1):c.4186C>A (p.Arg1396=)
|
rs115511838
|
0.00278
|
|
NM_004370.6(COL12A1):c.6068-14T>A
|
rs189714891
|
0.00278
|
|
NM_006922.4(SCN3A):c.171T>C (p.Ala57=)
|
rs111389453
|
0.00278
|
|
NM_032578.4(MYPN):c.1079-18T>C
|
rs114932559
|
0.00278
|
|
NM_000254.3(MTR):c.250-7G>A
|
rs184332230
|
0.00277
|
|
NM_001958.5(EEF1A2):c.1266C>A (p.Gly422=)
|
rs202102758
|
0.00277
|
|
NM_015158.5(KANK1):c.1377G>A (p.Gln459=)
|
rs114868002
|
0.00277
|
|
NM_015331.3(NCSTN):c.1249A>T (p.Asn417Tyr)
|
rs143039637
|
0.00277
|
|
NM_052989.3(IFT122):c.3432C>T (p.Ile1144=)
|
rs149884307
|
0.00277
|
|
NM_001098426.2(SMARCD2):c.1545G>A (p.Val515=)
|
rs181910740
|
0.00276
|
|
NM_001371986.1(UNC80):c.9752C>G (p.Thr3251Arg)
|
rs59504201
|
0.00276
|
|
NM_002485.5(NBN):c.1222A>G (p.Lys408Glu)
|
rs34120922
|
0.00276
|
|
NM_005263.5(GFI1):c.792C>T (p.Phe264=)
|
rs114487177
|
0.00276
|
|
NM_144997.7(FLCN):c.1177-21G>A
|
rs150687840
|
0.00276
|
|
NM_207361.6(FREM2):c.7335T>C (p.Gly2445=)
|
rs141921562
|
0.00276
|
|
NM_000548.5(TSC2):c.4006-8C>T
|
rs45517325
|
0.00275
|
|
NM_001365276.2(TNXB):c.12058+15G>A
|
rs762839811
|
0.00275
|
|
NM_015158.5(KANK1):c.804C>T (p.Ala268=)
|
rs116693683
|
0.00275
|
|
NM_033087.4(ALG2):c.349-17A>G
|
rs193069827
|
0.00275
|
|
NM_198334.3(GANAB):c.38+17C>T
|
rs200471233
|
0.00275
|
|
NM_000168.6(GLI3):c.341G>A (p.Arg114Lys)
|
rs146458902
|
0.00274
|
|
NM_000969.5(RPL5):c.3+3G>C
|
rs200628272
|
0.00274
|
|
NM_002454.3(MTRR):c.1326C>T (p.Leu442=)
|
rs144781389
|
0.00274
|
|
NM_016373.4(WWOX):c.1134C>T (p.Asn378=)
|
rs201088847
|
0.00274
|
|
NM_017760.7(NCAPG2):c.975G>A (p.Glu325=)
|
rs182403876
|
0.00274
|
|
NM_152416.4(NDUFAF6):c.838G>A (p.Val280Ile)
|
rs61743028
|
0.00274
|
|
NM_014714.4(IFT140):c.492-20C>T
|
rs149012740
|
0.00273
|
|
NM_170606.3(KMT2C):c.11139C>T (p.Ala3713=)
|
rs140482040
|
0.00273
|
|
NM_000059.4(BRCA2):c.4241C>T (p.Thr1414Met)
|
rs70953664
|
0.00272
|
|
NM_000130.5(F5):c.4923C>T (p.Leu1641=)
|
rs116809837
|
0.00272
|
|
NM_000216.4(ANOS1):c.618G>A (p.Ser206=)
|
rs147229253
|
0.00272
|
|
NM_000514.4(GDNF):c.277C>T (p.Arg93Trp)
|
rs36119840
|
0.00272
|
|
NM_001329943.3(KIAA0586):c.4629G>A (p.Ser1543=)
|
rs61745066
|
0.00272
|
|
NM_004172.5(SLC1A3):c.1489T>C (p.Leu497=)
|
rs150357327
|
0.00272
|
|
NM_005141.5(FGB):c.682A>G (p.Thr228Ala)
|
rs149599496
|
0.00272
|
|
NM_020680.4(SCYL1):c.877T>G (p.Phe293Val)
|
rs143168314
|
0.00272
|
|
NM_000130.5(F5):c.6554A>G (p.Lys2185Arg)
|
rs6679078
|
0.00271
|
|
NM_000186.4(CFH):c.428-14T>C
|
rs184188486
|
0.00271
|
|
NM_001105206.3(LAMA4):c.422+20G>T
|
rs188820838
|
0.00271
|
|
NM_014264.5(PLK4):c.2109C>A (p.Ile703=)
|
rs74770705
|
0.00271
|
|
NM_024513.4(FYCO1):c.1439C>T (p.Thr480Met)
|
rs146711260
|
0.00271
|
|
NM_000078.3(CETP):c.636C>T (p.Ala212=)
|
rs5885
|
0.00270
|
|
NM_001271938.2(MEGF8):c.6481+11T>G
|
rs138919410
|
0.00270
|
|
NM_201384.3(PLEC):c.58A>G (p.Ser20Gly)
|
rs183111586
|
0.00270
|
|
NM_000381.4(MID1):c.1242C>T (p.Tyr414=)
|
rs142718564
|
0.00269
|
|
NM_002900.3(RBP3):c.2650G>A (p.Val884Met)
|
rs11204213
|
0.00269
|
|
NM_012330.4(KAT6B):c.375C>T (p.Ser125=)
|
rs41314998
|
0.00269
|
|
NM_000059.4(BRCA2):c.6100C>T (p.Arg2034Cys)
|
rs1799954
|
0.00268
|
|
NM_001001433.3(STX16):c.141C>T (p.Asp47=)
|
rs73598392
|
0.00268
|
|
NM_001003841.3(SLC6A19):c.555G>A (p.Thr185=)
|
rs115871703
|
0.00268
|
|
NM_012120.3(CD2AP):c.447C>T (p.Thr149=)
|
rs145518596
|
0.00268
|
|
NM_020451.3(SELENON):c.1645G>A (p.Val549Met)
|
rs147131452
|
0.00268
|
|
NM_000257.4(MYH7):c.4239G>A (p.Ser1413=)
|
rs3729821
|
0.00267
|
|
NM_001372.4(DNAH9):c.6810C>T (p.His2270=)
|
rs61732585
|
0.00267
|
|
NM_004369.4(COL6A3):c.2463T>C (p.Ser821=)
|
rs115387170
|
0.00267
|
|
NM_004380.3(CREBBP):c.6849C>T (p.Ser2283=)
|
rs148904096
|
0.00267
|
|
NM_006514.4(SCN10A):c.4416C>T (p.Ile1472=)
|
rs144944369
|
0.00267
|
|
NM_017780.4(CHD7):c.7579A>C (p.Met2527Leu)
|
rs192129249
|
0.00267
|
|
NM_022916.6(VPS33A):c.624G>A (p.Arg208=)
|
rs2277335
|
0.00267
|
|
NM_033022.4(RPS24):c.168T>C (p.Phe56=)
|
rs57866839
|
0.00267
|
|
NM_152783.5(D2HGDH):c.1308A>G (p.Gly436=)
|
rs113782371
|
0.00267
|
|
NM_182914.3(SYNE2):c.15781G>A (p.Val5261Ile)
|
rs144605670
|
0.00267
|
|
NM_021956.5(GRIK2):c.2296G>A (p.Val766Ile)
|
rs3213608
|
0.00266
|
|
NM_024513.4(FYCO1):c.3779C>G (p.Pro1260Arg)
|
rs144182297
|
0.00266
|
|
NM_213655.5(WNK1):c.2172T>C (p.Val724=)
|
rs72649808
|
0.00266
|
|
NM_001142864.4(PIEZO1):c.7495T>C (p.Leu2499=)
|
rs35736353
|
0.00265
|
|
NM_001358263.1(HK1):c.53T>C (p.Leu18Pro)
|
rs79002951
|
0.00265
|
|
NM_007074.4(CORO1A):c.1097C>A (p.Pro366His)
|
rs150857828
|
0.00265
|
|
NM_015135.3(NUP205):c.4425C>T (p.Ala1475=)
|
rs146766044
|
0.00265
|
|
NM_015330.6(SPECC1L):c.153+5T>G
|
rs143374533
|
0.00265
|
|
NM_016341.4(PLCE1):c.6501+18C>T
|
rs76861037
|
0.00265
|
|
NM_019109.5(ALG1):c.867C>T (p.Asp289=)
|
rs144029725
|
0.00265
|
|
NM_001457.4(FLNB):c.5426-10G>A
|
rs183917041
|
0.00264
|
|
NM_001614.5(ACTG1):c.471C>T (p.Asp157=)
|
rs11549222
|
0.00264
|
|
NM_003366.4(UQCRC2):c.953A>C (p.Gln318Pro)
|
rs146974535
|
0.00264
|
|
NM_015215.4(CAMTA1):c.3066+20C>T
|
rs147462930
|
0.00264
|
|
NM_017849.4(TMEM127):c.268G>A (p.Val90Met)
|
rs121908823
|
0.00264
|
|
NM_018451.5(CENPJ):c.68A>G (p.Asn23Ser)
|
rs116981543
|
0.00264
|
|
NM_173551.5(ANKS6):c.603C>T (p.His201=)
|
rs137870160
|
0.00264
|
|
NM_001130144.3(LTBP3):c.2107+13C>T
|
rs201699516
|
0.00263
|
|
NM_003119.4(SPG7):c.987+19G>A
|
rs62071462
|
0.00263
|
|
NM_000207.3(INS):c.188-10G>A
|
rs41275198
|
0.00262
|
|
NM_000733.4(CD3E):c.498G>A (p.Ala166=)
|
rs78373007
|
0.00262
|
|
NM_000744.7(CHRNA4):c.1401C>T (p.Ser467=)
|
rs45569837
|
0.00262
|
|
NM_000815.5(GABRD):c.405C>T (p.His135=)
|
rs61742636
|
0.00262
|
|
NM_001126049.2(KLLN):c.-898G>A
|
rs538728843
|
0.00262
|
|
NM_004715.5(CTDP1):c.2070C>T (p.Gly690=)
|
rs145726709
|
0.00262
|
|
NM_000037.4(ANK1):c.5097-34C>T
|
rs185434561
|
0.00261
|
|
NM_001142864.4(PIEZO1):c.7317-5C>T
|
rs150172633
|
0.00261
|
|
NM_001267550.2(TTN):c.5388T>C (p.Asp1796=)
|
rs72647878
|
0.00261
|
|
NM_004560.4(ROR2):c.7C>T (p.Arg3Trp)
|
rs539329891
|
0.00261
|
|
NM_139319.3(SLC17A8):c.858T>C (p.Tyr286=)
|
rs148882860
|
0.00261
|
|
NM_000527.5(LDLR):c.1060+40G>A
|
rs192390193
|
0.00260
|
|
NM_001292063.2(OTOG):c.4238G>A (p.Arg1413Gln)
|
rs143848095
|
0.00260
|
|
NM_001374736.1(DST):c.14461A>C (p.Asn4821His)
|
rs139089184
|
0.00260
|
|
NM_006662.3(SRCAP):c.8703A>G (p.Leu2901=)
|
rs61746613
|
0.00260
|
|
NM_021098.3(CACNA1H):c.3846-10G>A
|
rs377030217
|
0.00260
|
|
NM_014140.4(SMARCAL1):c.603G>C (p.Gly201=)
|
rs35048226
|
0.00259
|
|
NM_017662.5(TRPM6):c.633T>C (p.Gly211=)
|
rs144221623
|
0.00259
|
|
NM_152464.3(TMEM199):c.156A>G (p.Gln52=)
|
rs116914442
|
0.00259
|
|
NM_001367624.2(ZNF469):c.869C>T (p.Ala290Val)
|
rs117501524
|
0.00258
|
|
NM_004752.4(GCM2):c.943A>G (p.Asn315Asp)
|
rs114070356
|
0.00258
|
|
NM_032340.4(UQCC2):c.321G>A (p.Met107Ile)
|
rs34770331
|
0.00258
|
|
NM_198252.3(GSN):c.597C>T (p.Asn199=)
|
rs146329975
|
0.00258
|
|
NM_000135.4(FANCA):c.2021C>T (p.Ser674Leu)
|
rs17232973
|
0.00257
|
|
NM_000744.7(CHRNA4):c.9A>G (p.Leu3=)
|
rs80075498
|
0.00257
|
|
NM_001113378.2(FANCI):c.2011A>G (p.Ile671Val)
|
rs139814895
|
0.00257
|
|
NM_001130438.3(SPTAN1):c.774G>A (p.Gln258=)
|
rs138609094
|
0.00257
|
|
NM_001130987.2(DYSF):c.5743G>A (p.Asp1915Asn)
|
rs115013641
|
0.00257
|
|
NM_001256545.2(MEGF10):c.218+17C>G
|
rs72786483
|
0.00257
|
|
NM_017662.5(TRPM6):c.390G>A (p.Glu130=)
|
rs140236011
|
0.00257
|
|
NM_144666.3(DNHD1):c.4060G>A (p.Ala1354Thr)
|
rs200542540
|
0.00257
|
|
NM_175914.5(HNF4A):c.744C>T (p.Asp248=)
|
rs6031592
|
0.00257
|
|
NM_000168.6(GLI3):c.1357-17C>G
|
rs190600888
|
0.00256
|
|
NM_001271.4(CHD2):c.608A>G (p.Lys203Arg)
|
rs117844037
|
0.00256
|
|
NM_006662.3(SRCAP):c.8865C>G (p.Ser2955=)
|
rs149043190
|
0.00256
|
|
NM_032620.4(GTPBP3):c.1175C>G (p.Pro392Arg)
|
rs149578279
|
0.00256
|
|
NM_001081.4(CUBN):c.5011A>C (p.Arg1671=)
|
rs144472791
|
0.00255
|
|
NM_001395656.1(ROBO2):c.2742T>C (p.Arg914=)
|
rs183858273
|
0.00255
|
|
NM_004431.5(EPHA2):c.2374C>A (p.Arg792=)
|
rs55869078
|
0.00255
|
|
NM_004977.3(KCNC3):c.2093G>A (p.Arg698His)
|
rs144957827
|
0.00255
|
|
NM_021922.3(FANCE):c.248+7C>A
|
rs186563531
|
0.00255
|
|
NM_005005.3(NDUFB9):c.24C>T (p.Pro8=)
|
rs147044660
|
0.00254
|
|
NM_000093.5(COL5A1):c.4410C>T (p.Pro1470=)
|
rs41310953
|
0.00253
|
|
NM_002691.4(POLD1):c.433G>A (p.Ala145Thr)
|
rs137953986
|
0.00253
|
|
NM_004523.4(KIF11):c.1578C>A (p.His526Gln)
|
rs112145870
|
0.00253
|
|
NM_015267.4(CUX2):c.81C>T (p.Val27=)
|
rs190091435
|
0.00253
|
|
NM_002447.4(MST1R):c.1861A>T (p.Lys621Ter)
|
rs9819888
|
0.00252
|
|
NM_003355.3(UCP2):c.227G>A (p.Arg76Gln)
|
rs45541732
|
0.00252
|
|
NM_007294.4(BRCA1):c.4987-20A>G
|
rs80358035
|
0.00252
|
|
NM_198578.4(LRRK2):c.5510-9A>G
|
rs41286460
|
0.00252
|
|
NM_001105206.3(LAMA4):c.4314A>C (p.Ser1438=)
|
rs77367833
|
0.00251
|
|
NM_015896.4(ZMYND10):c.1019G>A (p.Arg340Gln)
|
rs148328402
|
0.00251
|
|
NM_000123.4(ERCC5):c.3239G>A (p.Gly1080Glu)
|
rs4150388
|
0.00250
|
|
NM_000168.6(GLI3):c.1028+15G>A
|
rs116842918
|
0.00250
|
|
NM_001182.5(ALDH7A1):c.1234A>G (p.Thr412Ala)
|
rs2306618
|
0.00250
|
|
NM_002335.4(LRP5):c.4278T>C (p.Tyr1426=)
|
rs142328132
|
0.00250
|
|
NM_003355.3(UCP2):c.803C>G (p.Ala268Gly)
|
rs45490393
|
0.00250
|
|
NM_003665.4(FCN3):c.750C>T (p.His250=)
|
rs28385652
|
0.00249
|
|
NM_005087.4(FXR1):c.52-7C>T
|
rs202081242
|
0.00249
|
|
NM_005629.4(SLC6A8):c.1494C>T (p.Tyr498=)
|
rs143916832
|
0.00249
|
|
NM_014875.3(KIF14):c.1087G>A (p.Val363Ile)
|
rs77828651
|
0.00249
|
|
NM_016356.5(DCDC2):c.855A>G (p.Ser285=)
|
rs141519329
|
0.00249
|
|
NM_000077.5(CDKN2A):c.430C>T (p.Arg144Cys)
|
rs116150891
|
0.00248
|
|
NM_000276.4(OCRL):c.439+3A>G
|
rs61752971
|
0.00248
|
|
NM_000338.3(SLC12A1):c.2067G>A (p.Gly689=)
|
rs35783293
|
0.00248
|
|
NM_005629.4(SLC6A8):c.813C>T (p.Val271=)
|
rs138064933
|
0.00248
|
|
NM_015932.6(POMP):c.101+9G>A
|
rs116855705
|
0.00248
|
|
NM_020461.4(TUBGCP6):c.2487C>G (p.Val829=)
|
rs139343360
|
0.00248
|
|
NM_024740.2(ALG9):c.132-16T>G
|
rs781960988
|
0.00248
|
|
NM_001171.6(ABCC6):c.1248C>T (p.Asp416=)
|
rs143487365
|
0.00247
|
|
NM_002087.4(GRN):c.1298G>A (p.Arg433Gln)
|
rs114248177
|
0.00247
|
|
NM_005267.5(GJA8):c.658A>G (p.Asn220Asp)
|
rs138140155
|
0.00247
|
|
NM_020964.3(EPG5):c.740C>T (p.Pro247Leu)
|
rs140494095
|
0.00247
|
|
NM_000540.3(RYR1):c.4443C>T (p.Asn1481=)
|
rs141317474
|
0.00246
|
|
NM_025132.4(WDR19):c.2142+12G>A
|
rs149621476
|
0.00246
|
|
NM_000337.6(SGCD):c.699+71G>A
|
rs187204080
|
0.00245
|
|
NM_002470.4(MYH3):c.3409C>T (p.Arg1137Cys)
|
rs12941197
|
0.00245
|
|
NM_005816.5(CD96):c.807+14A>C
|
rs144245769
|
0.00245
|
|
NM_017637.6(BNC2):c.1648T>G (p.Leu550Val)
|
rs4961490
|
0.00245
|
|
NM_000875.5(IGF1R):c.2782+17G>A
|
rs186895929
|
0.00244
|
|
NM_002055.5(GFAP):c.313C>T (p.Arg105Trp)
|
rs139838162
|
0.00244
|
|
NM_052844.4(DYNC2I2):c.1066G>A (p.Gly356Ser)
|
rs17849504
|
0.00244
|
|
NM_001041.4(SI):c.4275A>G (p.Thr1425=)
|
rs150151075
|
0.00243
|
|
NM_004560.4(ROR2):c.175+17A>G
|
rs372392835
|
0.00243
|
|
NM_005765.3(ATP6AP2):c.38-5T>C
|
rs190477001
|
0.00243
|
|
NM_018249.6(CDK5RAP2):c.5578T>C (p.Leu1860=)
|
rs77100552
|
0.00243
|
|
NM_152906.7(TANGO2):c.56+148C>T
|
rs183601770
|
0.00243
|
|
NM_001366722.1(GRIP1):c.2880G>A (p.Ser960=)
|
rs181527317
|
0.00242
|
|
NM_001655.5(ARCN1):c.786C>G (p.Thr262=)
|
rs141830134
|
0.00242
|
|
NM_198428.3(BBS9):c.2632+9C>A
|
rs148654647
|
0.00242
|
|
NM_001046.3(SLC12A2):c.102G>A (p.Leu34=)
|
rs535757373
|
0.00241
|
|
NM_001211.6(BUB1B):c.751+15C>T
|
rs74499462
|
0.00241
|
|
NM_004560.4(ROR2):c.372C>T (p.Asp124=)
|
rs145568368
|
0.00241
|
|
NM_014714.4(IFT140):c.1524+14C>G
|
rs369481491
|
0.00241
|
|
NM_024408.4(NOTCH2):c.7042T>C (p.Leu2348=)
|
rs61734328
|
0.00241
|
|
NM_032387.5(WNK4):c.3432-20T>C
|
rs61755630
|
0.00241
|
|
NM_172351.3(CD46):c.926C>T (p.Pro309Leu)
|
rs41317833
|
0.00241
|
|
NM_012418.4(FSCN2):c.49G>A (p.Val17Ile)
|
rs137853900
|
0.00240
|
|
NM_014804.3(KIAA0753):c.236T>C (p.Val79Ala)
|
rs201379908
|
0.00240
|
|
NM_173689.7(CRB2):c.2817G>C (p.Leu939=)
|
rs148565778
|
0.00240
|
|
NM_177438.3(DICER1):c.1377-4T>G
|
rs192490028
|
0.00240
|
|
NM_000059.4(BRCA2):c.8182G>A (p.Val2728Ile)
|
rs28897749
|
0.00239
|
|
NM_000210.4(ITGA6):c.2989-6C>T
|
rs147900066
|
0.00239
|
|
NM_000370.3(TTPA):c.48G>A (p.Ala16=)
|
rs562202164
|
0.00239
|
|
NM_001009944.3(PKD1):c.3006G>C (p.Val1002=)
|
rs143013095
|
0.00239
|
|
NM_004975.4(KCNB1):c.1389T>A (p.Ile463=)
|
rs115929614
|
0.00239
|
|
NM_000308.4(CTSA):c.105C>T (p.Ile35=)
|
rs150140984
|
0.00238
|
|
NM_002335.4(LRP5):c.4431C>T (p.His1477=)
|
rs11574426
|
0.00238
|
|
NM_024740.2(ALG9):c.1794C>T (p.Tyr598=)
|
rs77191760
|
0.00238
|
|
NM_174936.4(PCSK9):c.1681+17G>A
|
rs200529774
|
0.00238
|
|
NM_000064.4(C3):c.2394C>T (p.Ser798=)
|
rs112178657
|
0.00237
|
|
NM_000179.3(MSH6):c.3439-16C>T
|
rs192614006
|
0.00237
|
|
NM_000316.3(PTH1R):c.128G>A (p.Arg43His)
|
rs141466964
|
0.00237
|
|
NM_000157.4(GBA1):c.1444G>A (p.Asp482Asn)
|
rs75671029
|
0.00236
|
|
NM_001605.3(AARS1):c.1672-4T>A
|
rs187509039
|
0.00236
|
|
NM_000162.5(GCK):c.333C>T (p.Pro111=)
|
rs61736250
|
0.00235
|
|
NM_001379403.1(WDR26):c.1635T>C (p.His545=)
|
rs140546120
|
0.00235
|
|
NM_002661.5(PLCG2):c.1557+6G>C
|
rs139565830
|
0.00235
|
|
NM_003982.4(SLC7A7):c.1380C>G (p.Ile460Met)
|
rs139415285
|
0.00235
|
|
NM_005751.5(AKAP9):c.11098-13T>G
|
rs76709221
|
0.00235
|
|
NM_053025.4(MYLK):c.3242A>G (p.His1081Arg)
|
rs113491038
|
0.00235
|
|
NM_000030.3(AGXT):c.732C>A (p.Ile244=)
|
rs147106773
|
0.00234
|
|
NM_001385012.1(NBEA):c.282G>A (p.Thr94=)
|
rs201561325
|
0.00234
|
|
NM_030761.5(WNT4):c.909C>T (p.Ile303=)
|
rs112452625
|
0.00234
|
|
NM_053054.4(CATSPER1):c.231A>T (p.Gln77His)
|
rs146165781
|
0.00234
|
|
NM_001365276.2(TNXB):c.12592G>A (p.Ala4198Thr)
|
rs756508366
|
0.00233
|
|
NM_001377458.1(CLCC1):c.*2854T>C
|
rs138132875
|
0.00233
|
|
NM_005633.4(SOS1):c.570C>T (p.Asp190=)
|
rs55980502
|
0.00233
|
|
NM_015602.4(TOR1AIP1):c.70C>G (p.Pro24Ala)
|
rs146976883
|
0.00233
|
|
NM_139027.6(ADAMTS13):c.1705+7G>A
|
rs78739717
|
0.00233
|
|
NM_198252.3(GSN):c.1416+16C>T
|
rs116723395
|
0.00233
|
|
NM_000329.3(RPE65):c.881A>C (p.Lys294Thr)
|
rs61752901
|
0.00232
|
|
NM_000334.4(SCN4A):c.355G>A (p.Val119Ile)
|
rs41280110
|
0.00232
|
|
NM_001037.5(SCN1B):c.267C>T (p.Arg89=)
|
rs140949982
|
0.00232
|
|
NM_001040151.2(SCN3B):c.582C>T (p.Asn194=)
|
rs34964168
|
0.00232
|
|
NM_001384140.1(PCDH15):c.4672-1640A>G
|
rs145178582
|
0.00232
|
|
NM_003978.5(PSTPIP1):c.543G>A (p.Lys181=)
|
rs375950478
|
0.00232
|
|
NM_004530.6(MMP2):c.1802G>T (p.Gly601Val)
|
rs142010233
|
0.00232
|
|
NM_004924.6(ACTN4):c.1608C>T (p.Arg536=)
|
rs139575917
|
0.00232
|
|
NM_005208.5(CRYBA1):c.475G>A (p.Gly159Ser)
|
rs117757092
|
0.00232
|
|
NM_005506.4(SCARB2):c.171T>C (p.Pro57=)
|
rs199895330
|
0.00232
|
|
NM_018417.6(ADCY10):c.3765C>T (p.Tyr1255=)
|
rs148366922
|
0.00232
|
|
NM_022437.3(ABCG8):c.491G>A (p.Arg164Gln)
|
rs74358901
|
0.00232
|
|
NM_000030.3(AGXT):c.557C>T (p.Ala186Val)
|
rs117195882
|
0.00231
|
|
NM_001379500.1(COL18A1):c.3036G>A (p.Pro1012=)
|
rs370656151
|
0.00231
|
|
NM_002473.6(MYH9):c.7C>G (p.Gln3Glu)
|
rs56200894
|
0.00231
|
|
NM_006514.4(SCN10A):c.950+17T>C
|
rs188914048
|
0.00231
|
|
NM_000514.4(GDNF):c.448G>A (p.Asp150Asn)
|
rs76466003
|
0.00230
|
|
NM_001103.4(ACTN2):c.1423G>A (p.Asp475Asn)
|
rs80257412
|
0.00230
|
|
NM_005257.6(GATA6):c.1374C>T (p.Asn458=)
|
rs143026087
|
0.00230
|
|
NM_005529.7(HSPG2):c.3657-16C>G
|
rs139310195
|
0.00230
|
|
NM_013335.4(GMPPA):c.190C>T (p.Pro64Ser)
|
rs34873891
|
0.00230
|
|
NM_017866.6(TMEM70):c.211-6C>T
|
rs113669789
|
0.00230
|
|
NM_003681.5(PDXK):c.374C>T (p.Ser125Leu)
|
rs77734576
|
0.00229
|
|
NM_001113378.2(FANCI):c.1179T>C (p.Tyr393=)
|
rs3743377
|
0.00228
|
|
NM_005518.4(HMGCS2):c.1419G>A (p.Lys473=)
|
rs142776952
|
0.00228
|
|
NM_006363.6(SEC23B):c.2298C>T (p.Ala766=)
|
rs77945587
|
0.00228
|
|
NM_022168.4(IFIH1):c.1481G>T (p.Gly494Val)
|
rs147000317
|
0.00228
|
|
NM_144573.4(NEXN):c.1659+18C>G
|
rs147422621
|
0.00228
|
|
NM_001110556.2(FLNA):c.5972C>T (p.Ser1991Leu)
|
rs187029309
|
0.00227
|
|
NM_001009944.3(PKD1):c.3316C>G (p.Leu1106Val)
|
rs141625744
|
0.00226
|
|
NM_001009999.3(KDM1A):c.2448G>A (p.Pro816=)
|
rs137940710
|
0.00226
|
|
NM_001264.5(CDSN):c.1525C>T (p.Leu509=)
|
rs150958659
|
0.00226
|
|
NM_005045.4(RELN):c.8811G>A (p.Ala2937=)
|
rs144728023
|
0.00226
|
|
NM_021098.3(CACNA1H):c.2603+20C>A
|
rs57600685
|
0.00226
|
|
NM_004525.3(LRP2):c.769+9G>A
|
rs148452352
|
0.00225
|
|
NM_005120.3(MED12):c.384A>G (p.Gln128=)
|
rs201566660
|
0.00225
|
|
NM_006180.6(NTRK2):c.2430C>T (p.Pro810=)
|
rs56142442
|
0.00225
|
|
NM_018474.6(KIZ):c.1331C>G (p.Ser444Cys)
|
rs80251208
|
0.00225
|
|
NM_139027.6(ADAMTS13):c.3400+45C>T
|
rs141494468
|
0.00225
|
|
NM_153704.6(TMEM67):c.25G>A (p.Val9Met)
|
rs199961375
|
0.00225
|
|
NM_001371596.2(MFSD8):c.66A>T (p.Glu22Asp)
|
rs145529594
|
0.00224
|
|
NM_000505.4(F12):c.-62C>T
|
rs187018744
|
0.00223
|
|
NM_001943.5(DSG2):c.3209C>T (p.Thr1070Met)
|
rs149617776
|
0.00223
|
|
NM_003383.5(VLDLR):c.2291C>T (p.Thr764Met)
|
rs56737058
|
0.00223
|
|
NM_005633.4(SOS1):c.3081+13A>G
|
rs189695571
|
0.00223
|
|
NM_013236.4(ATXN10):c.321G>A (p.Thr107=)
|
rs61733598
|
0.00223
|
|
NM_025077.4(TOE1):c.1379C>T (p.Pro460Leu)
|
rs149059377
|
0.00223
|
|
NM_000377.3(WAS):c.391G>A (p.Glu131Lys)
|
rs146220228
|
0.00222
|
|
NM_000492.4(CFTR):c.1210-13del
|
rs750294275
|
0.00222
|
|
NM_004621.6(TRPC6):c.1818T>C (p.Ser606=)
|
rs139187399
|
0.00222
|
|
NM_004924.6(ACTN4):c.1425C>T (p.Ala475=)
|
rs144388375
|
0.00222
|
|
NM_022042.4(SLC26A1):c.1043T>C (p.Leu348Pro)
|
rs148386572
|
0.00222
|
|
NM_030662.4(MAP2K2):c.1162C>T (p.Arg388Trp)
|
rs144383241
|
0.00222
|
|
NM_001349206.2(LPIN1):c.2595G>A (p.Gln865=)
|
rs139089077
|
0.00221
|
|
NM_001519.4(BRF1):c.549G>A (p.Pro183=)
|
rs144658695
|
0.00221
|
|
NM_005359.6(SMAD4):c.1140-10T>C
|
rs186332162
|
0.00221
|
|
NM_014874.4(MFN2):c.892G>A (p.Gly298Arg)
|
rs41278630
|
0.00221
|
|
NM_000257.4(MYH7):c.297C>T (p.Pro99=)
|
rs140245862
|
0.00220
|
|
NM_000498.3(CYP11B2):c.1272T>C (p.Asn424=)
|
rs75506816
|
0.00220
|
|
NM_001177316.2(SLC34A3):c.1093+19G>A
|
rs201165474
|
0.00220
|
|
NM_003661.4(APOL1):c.573C>T (p.Leu191=)
|
rs150846072
|
0.00220
|
|
NM_006662.3(SRCAP):c.9444T>C (p.Ser3148=)
|
rs142948420
|
0.00220
|
|
NM_019842.4(KCNQ5):c.972A>G (p.Gly324=)
|
rs138701359
|
0.00220
|
|
NM_030665.4(RAI1):c.725C>T (p.Pro242Leu)
|
rs150563155
|
0.00220
|
|
NM_198253.3(TERT):c.1574-7G>A
|
rs34846301
|
0.00220
|
|
NM_000186.4(CFH):c.3207T>C (p.Ser1069=)
|
rs62641697
|
0.00219
|
|
NM_022765.4(MICAL1):c.1599G>A (p.Leu533=)
|
rs142979809
|
0.00219
|
|
NM_000465.4(BARD1):c.620A>G (p.Lys207Arg)
|
rs34969857
|
0.00218
|
|
NM_001303256.3(MORC2):c.2841+20C>T
|
rs192723178
|
0.00218
|
|
NM_004525.3(LRP2):c.8831-13G>A
|
rs144717648
|
0.00218
|
|
NM_017780.4(CHD7):c.1536A>G (p.Pro512=)
|
rs148577619
|
0.00218
|
|
NM_031935.3(HMCN1):c.10618G>A (p.Val3540Ile)
|
rs140493567
|
0.00218
|
|
NM_201384.3(PLEC):c.6069C>G (p.Arg2023=)
|
rs376365984
|
0.00218
|
|
NM_000257.4(MYH7):c.3351G>A (p.Glu1117=)
|
rs45554236
|
0.00217
|
|
NM_000435.3(NOTCH3):c.4552C>A (p.Leu1518Met)
|
rs141320511
|
0.00217
|
|
NM_001089.3(ABCA3):c.5101G>A (p.Glu1701Lys)
|
rs139954112
|
0.00217
|
|
NM_001130438.3(SPTAN1):c.1303T>G (p.Ser435Ala)
|
rs144787939
|
0.00217
|
|
NM_004380.3(CREBBP):c.4822C>A (p.Pro1608Thr)
|
rs73491901
|
0.00217
|
|
NM_004380.3(CREBBP):c.6564G>A (p.Gln2188=)
|
rs73491896
|
0.00217
|
|
NM_006346.4(PIBF1):c.2138A>C (p.His713Pro)
|
rs41286070
|
0.00217
|
|
NM_007294.4(BRCA1):c.-19-361C>T
|
rs141625477
|
0.00217
|
|
NM_012301.4(MAGI2):c.900A>G (p.Glu300=)
|
rs111635934
|
0.00217
|
|
NM_020312.4(COQ9):c.625C>G (p.Leu209Val)
|
rs78846023
|
0.00217
|
|
NM_021954.4(GJA3):c.1111G>A (p.Ala371Thr)
|
rs141882615
|
0.00217
|
|
NM_030632.3(ASXL3):c.6359C>T (p.Ala2120Val)
|
rs151081332
|
0.00217
|
|
NM_032415.7(CARD11):c.3454G>A (p.Asp1152Asn)
|
rs147422861
|
0.00217
|
|
NM_000130.5(F5):c.3162A>C (p.Glu1054Asp)
|
rs149026031
|
0.00216
|
|
NM_000497.4(CYP11B1):c.988C>T (p.Leu330=)
|
rs61752765
|
0.00216
|
|
NM_021095.4(SLC5A6):c.1658G>A (p.Arg553Gln)
|
rs141244089
|
0.00216
|
|
NM_001009944.3(PKD1):c.3853C>T (p.Arg1285Trp)
|
rs143953714
|
0.00215
|
|
NM_001021.6(RPS17):c.328-7G>A
|
rs975130647
|
0.00215
|
|
NM_001493.3(GDI1):c.324C>T (p.Ser108=)
|
rs2230286
|
0.00215
|
|
NM_001845.6(COL4A1):c.4941G>A (p.Pro1647=)
|
rs115834242
|
0.00215
|
|
NM_006908.5(RAC1):c.495C>G (p.Leu165=)
|
rs61753123
|
0.00215
|
|
NM_015512.5(DNAH1):c.7143C>G (p.Ile2381Met)
|
rs144580984
|
0.00215
|
|
NM_001009944.3(PKD1):c.7863+11C>T
|
rs368629973
|
0.00214
|
|
NM_002547.3(OPHN1):c.2056C>T (p.Pro686Ser)
|
rs139691746
|
0.00214
|
|
NM_022454.4(SOX17):c.585G>T (p.Leu195=)
|
rs371736816
|
0.00214
|
|
NM_032951.3(MLXIPL):c.1537G>A (p.Ala513Thr)
|
rs200391124
|
0.00214
|
|
NM_000435.3(NOTCH3):c.2300G>A (p.Arg767His)
|
rs75291244
|
0.00213
|
|
NM_001014.5(RPS10):c.408C>T (p.Ala136=)
|
rs147566753
|
0.00213
|
|
NM_001330311.2(DVL1):c.1366A>G (p.Thr456Ala)
|
rs140107023
|
0.00213
|
|
NM_003640.5(ELP1):c.2204+18G>C
|
rs115641835
|
0.00213
|
|
NM_015192.4(PLCB1):c.3120A>G (p.Gln1040=)
|
rs61755436
|
0.00213
|
|
NM_018979.4(WNK1):c.3489+17A>G
|
rs185323017
|
0.00213
|
|
NM_020223.4(FAM20C):c.1681G>A (p.Val561Met)
|
rs145750007
|
0.00213
|
|
NM_000064.4(C3):c.1686+20G>A
|
rs76024222
|
0.00212
|
|
NM_001079520.2(DACT1):c.930G>C (p.Gln310His)
|
rs139223977
|
0.00212
|
|
NM_002661.5(PLCG2):c.1050C>A (p.Arg350=)
|
rs185739725
|
0.00212
|
|
NM_005045.4(RELN):c.1442-8T>C
|
rs181761096
|
0.00212
|
|
NM_153240.5(NPHP3):c.2693+17A>G
|
rs200046908
|
0.00212
|
|
NM_000069.3(CACNA1S):c.5570G>A (p.Ser1857Asn)
|
rs72749169
|
0.00210
|
|
NM_000336.3(SCNN1B):c.1731C>T (p.Thr577=)
|
rs61759923
|
0.00210
|
|
NM_001105206.3(LAMA4):c.5016T>A (p.Ile1672=)
|
rs148517180
|
0.00210
|
|
NM_006044.4(HDAC6):c.513C>T (p.Tyr171=)
|
rs73209760
|
0.00210
|
|
NM_014956.5(CEP164):c.3225C>T (p.Thr1075=)
|
rs144421639
|
0.00210
|
|
NM_032444.4(SLX4):c.2103G>C (p.Glu701Asp)
|
rs73505420
|
0.00210
|
|
NM_152416.4(NDUFAF6):c.83G>C (p.Gly28Ala)
|
rs201223057
|
0.00210
|
|
NM_000334.4(SCN4A):c.1453-4A>G
|
rs111818485
|
0.00209
|
|
NM_001009944.3(PKD1):c.12769G>A (p.Gly4257Arg)
|
rs369397443
|
0.00209
|
|
NM_001171.6(ABCC6):c.3507-19C>T
|
rs115016469
|
0.00209
|
|
NM_001324418.2(ADAM22):c.133G>A (p.Val45Met)
|
rs118019617
|
0.00209
|
|
NM_002150.3(HPD):c.813C>T (p.Thr271=)
|
rs144416002
|
0.00209
|
|
NM_002421.4(MMP1):c.248C>A (p.Thr83Asn)
|
rs143788145
|
0.00209
|
|
NM_004082.5(DCTN1):c.2761-18C>T
|
rs549475401
|
0.00209
|
|
NM_020041.3(SLC2A9):c.150+9G>A
|
rs138627925
|
0.00209
|
|
NM_001122630.2(CDKN1C):c.99C>T (p.Arg33=)
|
rs149717696
|
0.00208
|
|
NM_001330311.2(DVL1):c.272C>T (p.Ala91Val)
|
rs145496306
|
0.00208
|
|
NM_001367624.2(ZNF469):c.8064C>T (p.Asp2688=)
|
rs558108271
|
0.00208
|
|
NM_002335.4(LRP5):c.3256A>G (p.Met1086Val)
|
rs145774832
|
0.00208
|
|
NM_004356.4(CD81):c.414T>C (p.Asp138=)
|
rs143644902
|
0.00208
|
|
NM_006580.4(CLDN16):c.165T>C (p.Phe55=)
|
rs144105475
|
0.00208
|
|
NM_178857.6(RP1L1):c.444T>G (p.Leu148=)
|
rs112609335
|
0.00208
|
|
NM_001035.3(RYR2):c.2396+17T>G
|
rs376363428
|
0.00207
|
|
NM_024867.4(SPEF2):c.398G>A (p.Ser133Asn)
|
rs148174540
|
0.00207
|
|
NM_001171.6(ABCC6):c.*38G>A
|
rs59461468
|
0.00206
|
|
NM_014795.4(ZEB2):c.1480C>T (p.Pro494Ser)
|
rs144952836
|
0.00206
|
|
NM_000346.4(SOX9):c.685+8G>A
|
rs117696751
|
0.00205
|
|
NM_001394062.1(MACF1):c.3924G>A (p.Ser1308=)
|
rs150560748
|
0.00205
|
|
NM_003922.4(HERC1):c.10547-7C>T
|
rs192840076
|
0.00205
|
|
NM_006005.3(WFS1):c.854G>A (p.Arg285His)
|
rs61735404
|
0.00205
|
|
NM_015100.4(POGZ):c.1788A>G (p.Gln596=)
|
rs144945886
|
0.00205
|
|
NM_030578.4(B9D2):c.88+6C>T
|
rs112498529
|
0.00205
|
|
NM_006005.3(WFS1):c.482G>A (p.Arg161Gln)
|
rs115346085
|
0.00204
|
|
NM_001034853.2(RPGR):c.2793G>A (p.Glu931=)
|
rs1446705794
|
0.00203
|
|
NM_000059.4(BRCA2):c.8503T>C (p.Ser2835Pro)
|
rs11571746
|
0.00202
|
|
NM_000548.5(TSC2):c.1281C>A (p.Ile427=)
|
rs45478892
|
0.00202
|
|
NM_001080467.3(MYO5B):c.4481C>T (p.Ser1494Leu)
|
rs139632666
|
0.00202
|
|
NM_001916.5(CYC1):c.873+7G>A
|
rs200281879
|
0.00202
|
|
NM_003647.3(DGKE):c.129G>A (p.Gln43=)
|
rs139071284
|
0.00202
|
|
NM_004795.4(KL):c.1371A>C (p.Ala457=)
|
rs150268586
|
0.00202
|
|
NM_005076.5(CNTN2):c.1287C>T (p.Pro429=)
|
rs145911280
|
0.00202
|
|
NM_000135.4(FANCA):c.1830A>G (p.Ala610=)
|
rs1800338
|
0.00201
|
|
NM_001042424.3(NSD2):c.4023C>T (p.Pro1341=)
|
rs149925711
|
0.00201
|
|
NM_002204.4(ITGA3):c.1420G>A (p.Val474Met)
|
rs61730081
|
0.00201
|
|
NM_005559.4(LAMA1):c.5481A>G (p.Val1827=)
|
rs138711280
|
0.00201
|
|
NM_014956.5(CEP164):c.2772C>G (p.Leu924=)
|
rs117473319
|
0.00201
|
|
NM_000498.3(CYP11B2):c.679C>T (p.Leu227=)
|
rs139346202
|
0.00200
|
|
NM_001113378.2(FANCI):c.3592-8T>C
|
rs185599057
|
0.00200
|
|
NM_001170535.3(ATAD3A):c.646G>T (p.Ala216Ser)
|
rs2767471
|
0.00200
|
|
NM_001242896.3(DEPDC5):c.3683T>C (p.Ile1228Thr)
|
rs200653339
|
0.00200
|
|
NM_001379659.1(ZNF142):c.5116C>T (p.Arg1706Trp)
|
rs72962069
|
0.00200
|
|
NM_133379.5(TTN):c.13347A>G (p.Ile4449Met)
|
rs144539321
|
0.00200
|
|
NM_000117.3(EMD):c.399+18C>T
|
rs182540760
|
0.00199
|
|
NM_004998.4(MYO1E):c.978G>A (p.Arg326=)
|
rs141570155
|
0.00199
|
|
NM_020810.3(TRMT5):c.70A>G (p.Ile24Val)
|
rs115407315
|
0.00199
|
|
NM_033305.3(VPS13A):c.1758T>C (p.Ala586=)
|
rs149037185
|
0.00199
|
|
NM_133379.5(TTN):c.10917C>T (p.Gly3639=)
|
rs140804168
|
0.00199
|
|
NM_138927.4(SON):c.4583A>G (p.His1528Arg)
|
rs138957569
|
0.00199
|
|
NM_000153.4(GALC):c.195+19G>A
|
rs189853941
|
0.00198
|
|
NM_000168.6(GLI3):c.840C>G (p.Ser280=)
|
rs77084911
|
0.00198
|
|
NM_001005337.3(PKP1):c.605G>A (p.Arg202His)
|
rs78314242
|
0.00198
|
|
NM_001009944.3(PKD1):c.10406-4C>T
|
rs151095649
|
0.00198
|
|
NM_001378120.1(MBD5):c.2030G>A (p.Ser677Asn)
|
rs114314967
|
0.00198
|
|
NM_001388492.1(HTT):c.4638C>G (p.Val1546=)
|
rs116293982
|
0.00198
|
|
NM_004168.4(SDHA):c.1551+16C>T
|
rs184954254
|
0.00198
|
|
NM_006929.5(SKIC2):c.2211G>A (p.Pro737=)
|
rs2280773
|
0.00198
|
|
NM_014000.3(VCL):c.2434+19T>C
|
rs188216596
|
0.00198
|
|
NM_024408.4(NOTCH2):c.1568-17C>T
|
rs373665797
|
0.00198
|
|
NM_175876.5(EXOC8):c.955G>C (p.Glu319Gln)
|
rs144793875
|
0.00198
|
|
NM_001003841.3(SLC6A19):c.117G>A (p.Ala39=)
|
rs149830504
|
0.00197
|
|
NM_002691.4(POLD1):c.56G>A (p.Arg19His)
|
rs3218773
|
0.00197
|
|
NM_001330260.2(SCN8A):c.141C>T (p.Asp47=)
|
rs149013279
|
0.00196
|
|
NM_001042492.3(NF1):c.5035A>G (p.Ile1679Val)
|
rs147327414
|
0.00195
|
|
NM_001371623.1(TCOF1):c.4346-17T>A
|
rs76350524
|
0.00195
|
|
NM_003482.4(KMT2D):c.12913G>A (p.Val4305Ile)
|
rs199895011
|
0.00195
|
|
NM_012418.4(FSCN2):c.1092C>T (p.Ile364=)
|
rs188142101
|
0.00195
|
|
NM_025207.5(FLAD1):c.729C>T (p.Phe243=)
|
rs61736264
|
0.00195
|
|
NM_182961.4(SYNE1):c.19508A>G (p.Asn6503Ser)
|
rs144762960
|
0.00195
|
|
NM_000168.6(GLI3):c.2424A>G (p.Ile808Met)
|
rs62622373
|
0.00194
|
|
NM_002335.4(LRP5):c.1968C>T (p.His656=)
|
rs144847027
|
0.00194
|
|
NM_020655.4(JPH3):c.1398T>C (p.Thr466=)
|
rs78661943
|
0.00194
|
|
NM_022773.4(LMF1):c.95C>T (p.Ala32Val)
|
rs199831082
|
0.00194
|
|
NM_144687.4(NLRP12):c.1299A>G (p.Ala433=)
|
rs73608455
|
0.00194
|
|
NM_199242.3(UNC13D):c.847A>G (p.Ile283Val)
|
rs61754871
|
0.00194
|
|
NM_207361.6(FREM2):c.84C>G (p.Pro28=)
|
rs141718695
|
0.00194
|
|
NM_000168.6(GLI3):c.280C>T (p.Leu94=)
|
rs115137047
|
0.00193
|
|
NM_000195.5(HPS1):c.80G>A (p.Arg27Gln)
|
rs116143727
|
0.00193
|
|
NM_000368.5(TSC1):c.2865C>T (p.Thr955=)
|
rs45468995
|
0.00193
|
|
NM_004407.4(DMP1):c.639G>A (p.Glu213=)
|
rs116732769
|
0.00193
|
|
NM_014000.3(VCL):c.1353-19G>A
|
rs145537824
|
0.00193
|
|
NM_021098.3(CACNA1H):c.3622G>A (p.Ala1208Thr)
|
rs58394372
|
0.00193
|
|
NM_024675.4(PALB2):c.1606C>T (p.Leu536=)
|
rs151162255
|
0.00193
|
|
NM_000064.4(C3):c.2245+15G>A
|
rs11569434
|
0.00192
|
|
NM_000492.4(CFTR):c.1210-15del
|
rs371831442
|
0.00192
|
|
NM_001267550.2(TTN):c.34769A>G (p.Glu11590Gly)
|
rs201167067
|
0.00192
|
|
NM_005502.4(ABCA1):c.2338-17T>C
|
rs182899836
|
0.00192
|
|
NM_014946.4(SPAST):c.484G>A (p.Val162Ile)
|
rs141944844
|
0.00192
|
|
NM_080425.4(GNAS):c.484A>G (p.Met162Val)
|
rs138731520
|
0.00192
|
|
NM_000193.4(SHH):c.869G>A (p.Gly290Asp)
|
rs104894047
|
0.00191
|
|
NM_000502.6(EPX):c.801+1G>A
|
rs34599426
|
0.00191
|
|
NM_000944.5(PPP3CA):c.1386A>G (p.Ser462=)
|
rs150423845
|
0.00191
|
|
NM_001378452.1(ITPR1):c.7509T>C (p.Asp2503=)
|
rs79720149
|
0.00191
|
|
NM_005105.5(RBM8A):c.205+17C>A
|
rs115417561
|
0.00191
|
|
NM_021072.4(HCN1):c.2172C>T (p.Ala724=)
|
rs56217199
|
0.00191
|
|
NM_144687.4(NLRP12):c.819T>C (p.Pro273=)
|
rs59749540
|
0.00191
|
|
NM_000088.4(COL1A1):c.4006-33G>A
|
rs201920224
|
0.00190
|
|
NM_000204.5(CFI):c.1443C>T (p.Val481=)
|
rs114091883
|
0.00190
|
|
NM_001376.5(DYNC1H1):c.10414-13G>A
|
rs17541421
|
0.00190
|
|
NM_001378457.1(DMXL2):c.3860G>T (p.Ser1287Ile)
|
rs78240149
|
0.00190
|
|
NM_002454.3(MTRR):c.739C>T (p.Pro247Ser)
|
rs114053717
|
0.00190
|
|
NM_004667.6(HERC2):c.3687C>T (p.Asp1229=)
|
rs149204675
|
0.00190
|
|
NM_004733.4(SLC33A1):c.1451A>C (p.Asn484Thr)
|
rs144015992
|
0.00190
|
|
NM_006642.5(SDCCAG8):c.1761G>A (p.Leu587=)
|
rs149837444
|
0.00190
|
|
NM_021738.3(SVIL):c.6133+15G>A
|
rs187952659
|
0.00190
|
|
NM_032520.5(GNPTG):c.318-18G>A
|
rs148378749
|
0.00190
|
|
NM_139125.4(MASP1):c.893-14T>G
|
rs188032187
|
0.00190
|
|
NM_178452.6(DNAAF1):c.303G>C (p.Lys101Asn)
|
rs140386513
|
0.00190
|
|
NM_000064.4(C3):c.2685C>T (p.Ser895=)
|
rs138884408
|
0.00189
|
|
NM_000065.5(C6):c.1695C>T (p.Asp565=)
|
rs79523005
|
0.00189
|
|
NM_000781.3(CYP11A1):c.438C>T (p.Ala146=)
|
rs141920628
|
0.00189
|
|
NM_001042492.3(NF1):c.7531G>C (p.Val2511Leu)
|
rs2230850
|
0.00189
|
|
NM_001372.4(DNAH9):c.6297C>T (p.Pro2099=)
|
rs143732515
|
0.00189
|
|
NM_007078.3(LDB3):c.1460G>A (p.Arg487His)
|
rs146265188
|
0.00189
|
|
NM_018685.5(ANLN):c.3325A>G (p.Ile1109Val)
|
rs141247770
|
0.00189
|
|
NM_000532.5(PCCB):c.373-1292C>T
|
rs117604575
|
0.00188
|
|
NM_001278064.2(GRM1):c.3161G>A (p.Gly1054Asp)
|
rs145764886
|
0.00188
|
|
NM_001287491.2(TET3):c.2135G>A (p.Arg712Gln)
|
rs57955681
|
0.00188
|
|
NM_003597.5(KLF11):c.86G>A (p.Arg29Gln)
|
rs150096859
|
0.00188
|
|
NM_004130.4(GYG1):c.609G>A (p.Val203=)
|
rs75445811
|
0.00188
|
|
NM_004208.4(AIFM1):c.1227T>G (p.Thr409=)
|
rs61730898
|
0.00188
|
|
NM_005529.7(HSPG2):c.8044C>T (p.Arg2682Trp)
|
rs142458572
|
0.00188
|
|
NM_022762.5(RMND5B):c.*1820A>G
|
rs201653595
|
0.00188
|
|
NM_032444.4(SLX4):c.2328-9G>C
|
rs73505419
|
0.00188
|
|
NM_001134831.2(AHI1):c.1404A>G (p.Glu468=)
|
rs36069919
|
0.00187
|
|
NM_002473.6(MYH9):c.165C>T (p.Ile55=)
|
rs141948797
|
0.00187
|
|
NM_004944.4(DNASE1L3):c.705-3C>T
|
rs186823038
|
0.00187
|
|
NM_005957.5(MTHFR):c.1959G>A (p.Thr653=)
|
rs45572531
|
0.00187
|
|
NM_018965.4(TREM2):c.469C>T (p.His157Tyr)
|
rs2234255
|
0.00187
|
|
NM_000540.3(RYR1):c.297G>A (p.Thr99=)
|
rs144241486
|
0.00186
|
|
NM_001003694.2(BRPF1):c.63C>T (p.Tyr21=)
|
rs116359925
|
0.00186
|
|
NM_001170629.2(CHD8):c.2907+12A>T
|
rs200189975
|
0.00186
|
|
NM_024740.2(ALG9):c.1538C>T (p.Pro513Leu)
|
rs185149177
|
0.00186
|
|
NM_003000.3(SDHB):c.32G>A (p.Arg11His)
|
rs111430410
|
0.00185
|
|
NM_004525.3(LRP2):c.10030G>A (p.Ala3344Thr)
|
rs137983840
|
0.00185
|
|
NM_006005.3(WFS1):c.2596G>A (p.Asp866Asn)
|
rs3821945
|
0.00185
|
|
NM_006929.5(SKIC2):c.1705G>A (p.Val569Met)
|
rs144147284
|
0.00185
|
|
NM_016599.5(MYOZ2):c.29A>C (p.Gln10Pro)
|
rs76757102
|
0.00185
|
|
NM_021098.3(CACNA1H):c.4778-14C>T
|
rs374784679
|
0.00185
|
|
NM_000251.3(MSH2):c.23C>T (p.Thr8Met)
|
rs17217716
|
0.00184
|
|
NM_000435.3(NOTCH3):c.509A>G (p.His170Arg)
|
rs147373451
|
0.00184
|
|
NM_001110.4(ADAM10):c.326-10T>C
|
rs111517153
|
0.00184
|
|
NM_015267.4(CUX2):c.1029G>A (p.Thr343=)
|
rs199929446
|
0.00184
|
|
NM_000587.4(C7):c.1341G>A (p.Glu447=)
|
rs150696042
|
0.00183
|
|
NM_001330260.2(SCN8A):c.4278G>A (p.Arg1426=)
|
rs143867796
|
0.00183
|
|
NM_001376.5(DYNC1H1):c.12513+10T>G
|
rs17512839
|
0.00183
|
|
NM_003590.5(CUL3):c.2029+14T>C
|
rs201363693
|
0.00183
|
|
NM_005957.5(MTHFR):c.1409A>T (p.Glu470Val)
|
rs142617551
|
0.00183
|
|
NM_006005.3(WFS1):c.1530C>T (p.Tyr510=)
|
rs35789242
|
0.00183
|
|
NM_006306.4(SMC1A):c.1323C>T (p.Tyr441=)
|
rs144850468
|
0.00183
|
|
NM_006306.4(SMC1A):c.3450C>T (p.Ala1150=)
|
rs142611198
|
0.00183
|
|
NM_024747.6(HPS6):c.632G>C (p.Gly211Ala)
|
rs200584437
|
0.00183
|
|
NM_025074.7(FRAS1):c.1108-12T>G
|
rs150372637
|
0.00183
|
|
NM_002335.4(LRP5):c.4380C>T (p.Ser1460=)
|
rs11574420
|
0.00182
|
|
NM_015335.5(MED13L):c.1215T>G (p.Pro405=)
|
rs147976467
|
0.00182
|
|
NM_152416.4(NDUFAF6):c.663A>G (p.Pro221=)
|
rs193102273
|
0.00182
|
|
NM_001164508.2(NEB):c.19285G>A (p.Ala6429Thr)
|
rs149752325
|
0.00181
|
|
NM_001165963.4(SCN1A):c.3705+12T>G
|
rs147032678
|
0.00181
|
|
NM_000214.3(JAG1):c.2810G>A (p.Arg937Gln)
|
rs145895196
|
0.00180
|
|
NM_000336.3(SCNN1B):c.1765G>A (p.Gly589Ser)
|
rs61759926
|
0.00180
|
|
NM_003722.5(TP63):c.1788G>A (p.Ala596=)
|
rs148577576
|
0.00180
|
|
NM_004006.3(DMD):c.9682T>C (p.Phe3228Leu)
|
rs141392048
|
0.00180
|
|
NM_013352.4(DSE):c.2651G>A (p.Arg884Gln)
|
rs35363262
|
0.00180
|
|
NM_020738.4(KIDINS220):c.3586-7T>C
|
rs139887022
|
0.00180
|
|
NM_001348800.3(ZBTB20):c.2199C>T (p.His733=)
|
rs142627077
|
0.00179
|
|
NM_001395656.1(ROBO2):c.1956T>C (p.Thr652=)
|
rs61731263
|
0.00179
|
|
NM_004132.5(HABP2):c.364C>T (p.Arg122Trp)
|
rs78201625
|
0.00179
|
|
NM_006231.4(POLE):c.2561+6T>C
|
rs116231808
|
0.00179
|
|
NM_182643.3(DLC1):c.3856-6G>A
|
rs200102232
|
0.00179
|
|
NM_001105206.3(LAMA4):c.2493+15G>T
|
rs77901141
|
0.00178
|
|
NM_001164508.2(NEB):c.19286C>A (p.Ala6429Asp)
|
rs139636644
|
0.00178
|
|
NM_001378414.1(HDAC4):c.2532+18G>A
|
rs186981980
|
0.00178
|
|
NM_001458.5(FLNC):c.561C>T (p.Asp187=)
|
rs149474376
|
0.00178
|
|
NM_015338.6(ASXL1):c.2957A>G (p.Asn986Ser)
|
rs145132837
|
0.00178
|
|
NM_015713.5(RRM2B):c.48+265C>G
|
rs550765773
|
0.00178
|
|
NM_017617.5(NOTCH1):c.2124C>T (p.Tyr708=)
|
rs376744729
|
0.00178
|
|
NM_019616.4(F7):c.64+4C>T
|
rs187128791
|
0.00178
|
|
NM_020937.4(FANCM):c.5808C>T (p.Ser1936=)
|
rs142333130
|
0.00178
|
|
NM_173689.7(CRB2):c.2789C>T (p.Ala930Val)
|
rs561402183
|
0.00178
|
|
NM_175875.5(SIX5):c.2173C>T (p.Leu725=)
|
rs112320524
|
0.00178
|
|
NM_001943.5(DSG2):c.45+16G>C
|
rs199519502
|
0.00177
|
|
NM_014244.5(ADAMTS2):c.689-18G>A
|
rs202114393
|
0.00177
|
|
NM_017780.4(CHD7):c.1179A>G (p.Pro393=)
|
rs111238892
|
0.00177
|
|
NM_144670.6(A2ML1):c.9T>A (p.Ala3=)
|
rs151044194
|
0.00177
|
|
NM_000090.4(COL3A1):c.812G>A (p.Arg271Gln)
|
rs112185887
|
0.00176
|
|
NM_000093.5(COL5A1):c.2695G>A (p.Gly899Ser)
|
rs149964491
|
0.00176
|
|
NM_000465.4(BARD1):c.33G>T (p.Gln11His)
|
rs143914387
|
0.00176
|
|
NM_000503.6(EYA1):c.1200-11C>A
|
rs181457812
|
0.00176
|
|
NM_001256789.3(CACNA1F):c.2204A>C (p.Asn735Thr)
|
rs141159097
|
0.00176
|
|
NM_005559.4(LAMA1):c.4554C>T (p.His1518=)
|
rs145068849
|
0.00176
|
|
NM_005957.5(MTHFR):c.1555C>T (p.Arg519Cys)
|
rs45496998
|
0.00176
|
|
NM_014236.4(GNPAT):c.1056-20C>A
|
rs114267453
|
0.00176
|
|
NM_000108.5(DLD):c.826A>T (p.Thr276Ser)
|
rs148873419
|
0.00175
|
|
NM_001080414.4(CCDC88C):c.6027G>A (p.Pro2009=)
|
rs200979954
|
0.00175
|
|
NM_001126108.2(SLC12A3):c.1561A>G (p.Ile521Val)
|
rs147046379
|
0.00175
|
|
NM_001197104.2(KMT2A):c.9039T>A (p.Gly3013=)
|
rs142875797
|
0.00175
|
|
NM_001376.5(DYNC1H1):c.7239G>T (p.Leu2413=)
|
rs138407720
|
0.00175
|
|
NM_004944.4(DNASE1L3):c.543G>A (p.Ala181=)
|
rs61730077
|
0.00175
|
|
NM_198252.3(GSN):c.186C>T (p.His62=)
|
rs144551136
|
0.00175
|
|
NM_001105206.3(LAMA4):c.196-9C>T
|
rs144850734
|
0.00174
|
|
NM_001205293.3(CACNA1E):c.57G>A (p.Ser19=)
|
rs370950694
|
0.00174
|
|
NM_001384732.1(CPLANE1):c.8568G>C (p.Val2856=)
|
rs145215555
|
0.00174
|
|
NM_000213.5(ITGB4):c.5248G>A (p.Gly1750Arg)
|
rs151327791
|
0.00173
|
|
NM_001025603.2(RFX5):c.233+4G>C
|
rs2233846
|
0.00173
|
|
NM_001037.5(SCN1B):c.448+321G>A
|
rs72558028
|
0.00173
|
|
NM_006363.6(SEC23B):c.993+10C>G
|
rs201948587
|
0.00173
|
|
NM_015102.5(NPHP4):c.810+14A>C
|
rs201977545
|
0.00173
|
|
NM_018979.4(WNK1):c.3582G>A (p.Glu1194=)
|
rs72650721
|
0.00173
|
|
NM_018993.4(RIN2):c.1851C>T (p.Ala617=)
|
rs180817901
|
0.00173
|
|
NM_020975.6(RET):c.468C>T (p.Ala156=)
|
rs141290380
|
0.00173
|
|
NM_052874.5(STX1B):c.609G>A (p.Lys203=)
|
rs61733980
|
0.00173
|
|
NM_054027.6(ANKH):c.1237G>A (p.Ala413Thr)
|
rs112513380
|
0.00173
|
|
NM_133259.4(LRPPRC):c.738-18T>C
|
rs189675905
|
0.00173
|
|
NM_002709.3(PPP1CB):c.53-9G>A
|
rs368197884
|
0.00172
|
|
NM_003184.4(TAF2):c.1655A>T (p.Tyr552Phe)
|
rs149772375
|
0.00172
|
|
NM_004481.5(GALNT2):c.1077C>T (p.His359=)
|
rs147354186
|
0.00172
|
|
NM_004655.4(AXIN2):c.1070G>A (p.Arg357His)
|
rs8081536
|
0.00172
|
|
NM_015102.5(NPHP4):c.3574C>T (p.Arg1192Trp)
|
rs139022622
|
0.00172
|
|
NM_015335.5(MED13L):c.4593C>T (p.Thr1531=)
|
rs138774472
|
0.00172
|
|
NM_144670.6(A2ML1):c.196C>T (p.Leu66=)
|
rs185519272
|
0.00172
|
|
NM_000030.3(AGXT):c.836T>C (p.Ile279Thr)
|
rs140992177
|
0.00171
|
|
NM_001061.7(TBXAS1):c.880G>A (p.Val294Met)
|
rs13306052
|
0.00171
|
|
NM_001735.3(C5):c.2059+16T>A
|
rs199849879
|
0.00171
|
|
NM_021098.3(CACNA1H):c.1212+18T>C
|
rs11863387
|
0.00171
|
|
NM_021098.3(CACNA1H):c.5253C>T (p.Asn1751=)
|
rs57181695
|
0.00171
|
|
NM_021098.3(CACNA1H):c.6195C>T (p.Ala2065=)
|
rs375589233
|
0.00171
|
|
NM_004525.3(LRP2):c.3122A>G (p.Asn1041Ser)
|
rs143028579
|
0.00170
|
|
NM_006059.4(LAMC3):c.1940-9G>A
|
rs183574786
|
0.00170
|
|
NM_015443.4(KANSL1):c.1653-10C>G
|
rs199642265
|
0.00170
|
|
NM_022489.4(INF2):c.2490-20C>T
|
rs187104422
|
0.00170
|
|
NM_000282.4(PCCA):c.1284+16G>A
|
rs113610934
|
0.00169
|
|
NM_001887.4(CRYBB1):c.74G>A (p.Gly25Glu)
|
rs77431464
|
0.00169
|
|
NM_016023.5(OTUD6B):c.658G>A (p.Val220Ile)
|
rs143121527
|
0.00169
|
|
NM_021828.5(HPSE2):c.290+7C>T
|
rs72840396
|
0.00169
|
|
NM_025074.7(FRAS1):c.7652A>G (p.Gln2551Arg)
|
rs183712679
|
0.00169
|
|
NM_001206927.2(DNAH8):c.13823C>T (p.Thr4608Met)
|
rs142438011
|
0.00168
|
|
NM_001366385.1(CARD14):c.526G>C (p.Asp176His)
|
rs144475004
|
0.00168
|
|
NM_001366722.1(GRIP1):c.2283G>A (p.Ser761=)
|
rs200863167
|
0.00168
|
|
NM_001378452.1(ITPR1):c.3461A>G (p.Asp1154Gly)
|
rs61751570
|
0.00168
|
|
NM_001458.5(FLNC):c.2390-9T>C
|
rs368068407
|
0.00168
|
|
NM_001927.4(DES):c.792C>T (p.Asp264=)
|
rs150370918
|
0.00168
|
|
NM_002282.3(KRT83):c.760A>G (p.Ile254Val)
|
rs150867374
|
0.00168
|
|
NM_182643.3(DLC1):c.167A>G (p.Glu56Gly)
|
rs143324598
|
0.00168
|
|
NM_002292.4(LAMB2):c.510C>T (p.Arg170=)
|
rs149856537
|
0.00167
|
|
NM_004525.3(LRP2):c.1976-5T>A
|
rs373234680
|
0.00167
|
|
NM_021871.4(FGA):c.780G>A (p.Glu260=)
|
rs145563362
|
0.00167
|
|
NM_001367624.2(ZNF469):c.751C>A (p.Pro251Thr)
|
rs540655479
|
0.00166
|
|
NM_001497.4(B4GALT1):c.259C>T (p.Pro87Ser)
|
rs149181384
|
0.00166
|
|
NM_024537.4(CARS2):c.1531G>A (p.Ala511Thr)
|
rs147216443
|
0.00166
|
|
NM_031885.5(BBS2):c.1081-18G>T
|
rs142558653
|
0.00166
|
|
NM_000540.3(RYR1):c.4999C>T (p.Arg1667Cys)
|
rs144157950
|
0.00165
|
|
NM_000969.5(RPL5):c.3+13C>T
|
rs189107197
|
0.00165
|
|
NM_003482.4(KMT2D):c.8149C>T (p.Pro2717Ser)
|
rs201336660
|
0.00165
|
|
NM_005060.4(RORC):c.28C>T (p.Arg10Ter)
|
rs17582155
|
0.00165
|
|
NM_006031.6(PCNT):c.1519C>G (p.Arg507Gly)
|
rs138036524
|
0.00165
|
|
NM_006172.4(NPPA):c.190A>C (p.Ser64Arg)
|
rs61757261
|
0.00165
|
|
NM_020634.3(GDF3):c.583C>T (p.Arg195Trp)
|
rs112895783
|
0.00165
|
|
NM_000194.3(HPRT1):c.384+19A>G
|
rs183698879
|
0.00164
|
|
NM_000944.5(PPP3CA):c.1425C>T (p.Gly475=)
|
rs140517920
|
0.00164
|
|
NM_001614.5(ACTG1):c.803-6C>T
|
rs199600452
|
0.00164
|
|
NM_003235.5(TG):c.3665C>T (p.Ser1222Leu)
|
rs12549018
|
0.00164
|
|
NM_005633.4(SOS1):c.3032A>G (p.Asn1011Ser)
|
rs8192671
|
0.00164
|
|
NM_006642.5(SDCCAG8):c.929+18C>T
|
rs200895248
|
0.00164
|
|
NM_000388.4(CASR):c.748G>A (p.Glu250Lys)
|
rs62269092
|
0.00163
|
|
NM_001005361.3(DNM2):c.2160C>T (p.Asp720=)
|
rs117598326
|
0.00163
|
|
NM_001099274.3(TINF2):c.359A>G (p.Gln120Arg)
|
rs189265179
|
0.00163
|
|
NM_001378454.1(ALMS1):c.6082T>C (p.Ser2028Pro)
|
rs149096794
|
0.00163
|
|
NM_002168.4(IDH2):c.782G>A (p.Arg261His)
|
rs118101777
|
0.00163
|
|
NM_003597.5(KLF11):c.541G>A (p.Glu181Lys)
|
rs146238335
|
0.00163
|
|
NM_000503.6(EYA1):c.321T>C (p.Ala107=)
|
rs112282055
|
0.00162
|
|
NM_000532.5(PCCB):c.1490C>T (p.Ala497Val)
|
rs142403318
|
0.00162
|
|
NM_001018115.3(FANCD2):c.3560+20C>T
|
rs55804542
|
0.00162
|
|
NM_001136191.3(KANK2):c.1038C>T (p.Ala346=)
|
rs118109949
|
0.00162
|
|
NM_012208.4(HARS2):c.324T>C (p.Tyr108=)
|
rs143687204
|
0.00162
|
|
NM_015909.4(NBAS):c.3928A>G (p.Thr1310Ala)
|
rs35489395
|
0.00162
|
|
NM_147127.5(EVC2):c.1471-6C>T
|
rs115466792
|
0.00162
|
|
NM_001177316.2(SLC34A3):c.828C>T (p.Cys276=)
|
rs141775305
|
0.00161
|
|
NM_003200.5(TCF3):c.315G>A (p.Arg105=)
|
rs144176765
|
0.00160
|
|
NM_006063.3(KLHL41):c.1737T>C (p.Ala579=)
|
rs76875207
|
0.00160
|
|
NM_014714.4(IFT140):c.4040+15C>G
|
rs373703197
|
0.00160
|
|
NM_017780.4(CHD7):c.5757C>G (p.Ala1919=)
|
rs79203206
|
0.00160
|
|
NM_022098.4(XPNPEP3):c.1056-9C>T
|
rs116758113
|
0.00160
|
|
NM_000089.4(COL1A2):c.2078G>A (p.Arg693Gln)
|
rs34147460
|
0.00159
|
|
NM_005909.5(MAP1B):c.5193C>A (p.Ser1731=)
|
rs78388066
|
0.00159
|
|
NM_022114.4(PRDM16):c.1684G>A (p.Val562Ile)
|
rs150395260
|
0.00159
|
|
NM_198252.3(GSN):c.886+19G>T
|
rs200255784
|
0.00159
|
|
NM_000142.5(FGFR3):c.1959+15G>C
|
rs17886888
|
0.00158
|
|
NM_001003841.3(SLC6A19):c.775-4G>A
|
rs144753758
|
0.00158
|
|
NM_001031689.3(PLAA):c.1486+6A>T
|
rs189073379
|
0.00158
|
|
NM_001379081.2(FREM1):c.2337+19A>G
|
rs201898982
|
0.00158
|
|
NM_003597.5(KLF11):c.225C>T (p.Val75=)
|
rs144083374
|
0.00158
|
|
NM_007294.4(BRCA1):c.1137T>G (p.Ile379Met)
|
rs56128296
|
0.00158
|
|
NM_022042.4(SLC26A1):c.1906G>T (p.Asp636Tyr)
|
rs146466185
|
0.00158
|
|
NM_022489.4(INF2):c.558C>T (p.Ser186=)
|
rs150714865
|
0.00158
|
|
NM_144670.6(A2ML1):c.1937T>C (p.Ile646Thr)
|
rs150488553
|
0.00158
|
|
NM_000143.4(FH):c.1236+14C>T
|
rs149241949
|
0.00157
|
|
NM_001297.5(CNGB1):c.1204G>A (p.Asp402Asn)
|
rs140907154
|
0.00157
|
|
NM_003000.3(SDHB):c.300T>C (p.Ser100=)
|
rs11541235
|
0.00157
|
|
NM_017649.5(CNNM2):c.360C>T (p.Phe120=)
|
rs142276906
|
0.00157
|
|
NM_033337.3(CAV3):c.336C>T (p.Ile112=)
|
rs139985460
|
0.00157
|
|
NM_001098484.3(SLC4A4):c.1275C>T (p.His425=)
|
rs114698511
|
0.00156
|
|
NM_001126128.2(PROK2):c.84C>G (p.Ala28=)
|
rs372623686
|
0.00156
|
|
NM_001543.5(NDST1):c.927A>G (p.Pro309=)
|
rs137903526
|
0.00156
|
|
NM_004366.6(CLCN2):c.1937G>A (p.Arg646Gln)
|
rs115961753
|
0.00156
|
|
NM_015443.4(KANSL1):c.607G>C (p.Gly203Arg)
|
rs138175526
|
0.00156
|
|
NM_017570.5(OPLAH):c.949+12G>A
|
rs142819774
|
0.00156
|
|
NM_017617.5(NOTCH1):c.263G>A (p.Ser88Asn)
|
rs191357265
|
0.00156
|
|
NM_021828.5(HPSE2):c.273C>A (p.Gly91=)
|
rs115042847
|
0.00156
|
|
NM_032575.3(GLIS2):c.1011G>A (p.Pro337=)
|
rs200814551
|
0.00156
|
|
NM_000359.3(TGM1):c.920G>A (p.Arg307Gln)
|
rs146770534
|
0.00155
|
|
NM_001136193.2(FASTKD2):c.777+18T>C
|
rs200187845
|
0.00155
|
|
NM_002156.5(HSPD1):c.561T>C (p.Ser187=)
|
rs141357756
|
0.00155
|
|
NM_003480.4(MFAP5):c.410-18G>A
|
rs151240610
|
0.00155
|
|
NM_003738.5(PTCH2):c.3363A>G (p.Ile1121Met)
|
rs11573598
|
0.00155
|
|
NM_004525.3(LRP2):c.6954C>T (p.Asp2318=)
|
rs34223099
|
0.00155
|
|
NM_033380.3(COL4A5):c.3148C>T (p.Pro1050Ser)
|
rs143945573
|
0.00155
|
|
NM_000063.6(C2):c.2046A>G (p.Ala682=)
|
rs45507391
|
0.00154
|
|
NM_001048174.2(MUTYH):c.1501C>A (p.Leu501Met)
|
rs3219496
|
0.00154
|
|
NM_001098484.3(SLC4A4):c.807+13T>G
|
rs116455604
|
0.00154
|
|
NM_001379500.1(COL18A1):c.3316C>T (p.Arg1106Trp)
|
rs377620137
|
0.00154
|
|
NM_007254.4(PNKP):c.636+7G>A
|
rs3739187
|
0.00154
|
|
NM_000204.5(CFI):c.782G>A (p.Gly261Asp)
|
rs112534524
|
0.00153
|
|
NM_001004127.3(ALG11):c.44+20G>T
|
rs200503510
|
0.00153
|
|
NM_001046.3(SLC12A2):c.2322A>C (p.Ser774=)
|
rs115357531
|
0.00153
|
|
NM_001077415.3(CRELD1):c.258-13C>A
|
rs117956843
|
0.00153
|
|
NM_001171.6(ABCC6):c.2781C>T (p.Tyr927=)
|
rs61731973
|
0.00153
|
|
NM_003072.5(SMARCA4):c.258C>T (p.Asp86=)
|
rs115992445
|
0.00153
|
|
NM_006415.4(SPTLC1):c.261C>T (p.Gly87=)
|
rs151283029
|
0.00153
|
|
NM_018965.4(TREM2):c.140G>A (p.Arg47His)
|
rs75932628
|
0.00153
|
|
NM_020632.3(ATP6V0A4):c.1573-3C>T
|
rs182512951
|
0.00153
|
|
NM_021098.3(CACNA1H):c.2790-20G>A
|
rs373286579
|
0.00153
|
|
NM_023110.3(FGFR1):c.336C>T (p.Thr112=)
|
rs148480919
|
0.00153
|
|
NM_033305.3(VPS13A):c.4630+17A>G
|
rs371320559
|
0.00153
|
|
NM_201384.3(PLEC):c.9351C>T (p.Phe3117=)
|
rs200895343
|
0.00153
|
|
NM_000092.5(COL4A4):c.3818-15C>T
|
rs184593123
|
0.00152
|
|
NM_000533.5(PLP1):c.-31C>T
|
rs2233695
|
0.00152
|
|
NM_001041.4(SI):c.1218C>T (p.Asn406=)
|
rs151296973
|
0.00152
|
|
NM_004465.2(FGF10):c.620A>C (p.His207Pro)
|
rs147715509
|
0.00152
|
|
NM_020247.5(COQ8A):c.1824C>T (p.Ser608=)
|
rs141270350
|
0.00152
|
|
NM_139343.3(BIN1):c.1540C>T (p.Arg514Cys)
|
rs148422103
|
0.00152
|
|
NM_206933.4(USH2A):c.3364T>G (p.Ser1122Ala)
|
rs148135241
|
0.00152
|
|
NM_001105206.3(LAMA4):c.4822-3C>T
|
rs191447048
|
0.00151
|
|
NM_014967.5(FAN1):c.2071G>C (p.Glu691Gln)
|
rs111476645
|
0.00151
|
|
NM_033284.2(TBL1Y):c.457+1G>C
|
rs77259694
|
0.00151
|
|
NM_000789.4(ACE):c.3801C>T (p.Ile1267=)
|
rs144242912
|
0.00150
|
|
NM_001110792.2(MECP2):c.638C>T (p.Ala213Val)
|
rs61748381
|
0.00150
|
|
NM_001376256.1(CRYM):c.524A>T (p.Glu175Val)
|
rs141936944
|
0.00150
|
|
NM_004004.6(GJB2):c.249C>G (p.Phe83Leu)
|
rs111033218
|
0.00150
|
|
NM_004285.4(H6PD):c.1342G>A (p.Ala448Thr)
|
rs34580447
|
0.00150
|
|
NM_004525.3(LRP2):c.9914G>A (p.Arg3305His)
|
rs3213760
|
0.00150
|
|
NM_013275.6(ANKRD11):c.5088C>G (p.Asp1696Glu)
|
rs146205997
|
0.00150
|
|
NM_017649.5(CNNM2):c.2073+14T>C
|
rs184406418
|
0.00150
|
|
NM_017662.5(TRPM6):c.3095-17A>T
|
rs78719948
|
0.00150
|
|
NM_022042.4(SLC26A1):c.1511G>A (p.Arg504His)
|
rs201106151
|
0.00150
|
|
NM_022489.4(INF2):c.264C>T (p.Gly88=)
|
rs201587219
|
0.00150
|
|
NM_170606.3(KMT2C):c.1139G>T (p.Arg380Leu)
|
rs138908625
|
0.00150
|
|
NM_207361.6(FREM2):c.714G>A (p.Gln238=)
|
rs116236946
|
0.00150
|
|
NM_000334.4(SCN4A):c.3774+7C>T
|
rs199659791
|
0.00149
|
|
NM_006031.6(PCNT):c.4354G>A (p.Gly1452Arg)
|
rs143796569
|
0.00149
|
|
NM_006231.4(POLE):c.5124C>T (p.Phe1708=)
|
rs114891564
|
0.00149
|
|
NM_145038.5(DRC1):c.2223A>C (p.Ter741Cys)
|
rs151184011
|
0.00149
|
|
NM_152424.4(AMER1):c.401A>C (p.His134Pro)
|
rs146489129
|
0.00149
|
|
NM_000338.3(SLC12A1):c.2160G>A (p.Pro720=)
|
rs34820738
|
0.00148
|
|
NM_000921.5(PDE3A):c.1376G>A (p.Arg459Gln)
|
rs141325069
|
0.00148
|
|
NM_001164508.2(NEB):c.914A>G (p.Asp305Gly)
|
rs36105240
|
0.00148
|
|
NM_001735.3(C5):c.921C>G (p.Val307=)
|
rs62640871
|
0.00148
|
|
NM_001849.4(COL6A2):c.2558G>A (p.Arg853Gln)
|
rs144830948
|
0.00148
|
|
NM_002471.4(MYH6):c.2890G>T (p.Ala964Ser)
|
rs144907522
|
0.00148
|
|
NM_004310.5(RHOH):c.144T>C (p.Asp48=)
|
rs76788449
|
0.00148
|
|
NM_005506.4(SCARB2):c.704+16T>C
|
rs199686576
|
0.00148
|
|
NM_022773.4(LMF1):c.1608G>T (p.Val536=)
|
rs201012186
|
0.00148
|
|
NM_000301.5(PLG):c.1962G>T (p.Val654=)
|
rs4252196
|
0.00147
|
|
NM_001103.4(ACTN2):c.1515+15C>T
|
rs368107695
|
0.00147
|
|
NM_001330700.2(TOP2B):c.4715C>T (p.Pro1572Leu)
|
rs62638670
|
0.00147
|
|
NM_001394062.1(MACF1):c.16482G>A (p.Leu5494=)
|
rs41307884
|
0.00147
|
|
NM_004431.5(EPHA2):c.944G>A (p.Arg315Gln)
|
rs139176878
|
0.00147
|
|
NM_004525.3(LRP2):c.3081C>T (p.Gly1027=)
|
rs138156358
|
0.00147
|
|
NM_133433.4(NIPBL):c.294C>T (p.Ala98=)
|
rs142184978
|
0.00147
|
|
NM_198075.4(LRRC56):c.424-9G>A
|
rs201091147
|
0.00147
|
|
NM_000400.4(ERCC2):c.1632C>T (p.Tyr544=)
|
rs147605089
|
0.00146
|
|
NM_001079520.2(DACT1):c.769G>A (p.Glu257Lys)
|
rs77323631
|
0.00146
|
|
NM_001126108.2(SLC12A3):c.1392C>A (p.Ala464=)
|
rs118121751
|
0.00146
|
|
NM_181776.3(SLC36A2):c.882C>T (p.His294=)
|
rs74403861
|
0.00146
|
|
NM_000208.4(INSR):c.2682+9C>G
|
rs41398545
|
0.00145
|
|
NM_000492.4(CFTR):c.853A>T (p.Ile285Phe)
|
rs151073129
|
0.00145
|
|
NM_002335.4(LRP5):c.2828-18T>C
|
rs200093926
|
0.00145
|
|
NM_002335.4(LRP5):c.4488+20A>G
|
rs554995200
|
0.00145
|
|
NM_001040142.2(SCN2A):c.5229A>G (p.Lys1743=)
|
rs2227898
|
0.00144
|
|
NM_001182.5(ALDH7A1):c.373A>G (p.Ile125Val)
|
rs117295656
|
0.00144
|
|
NM_005559.4(LAMA1):c.7446A>G (p.Leu2482=)
|
rs145257845
|
0.00144
|
|
NM_017780.4(CHD7):c.1419G>C (p.Gly473=)
|
rs186394299
|
0.00144
|
|
NM_022114.4(PRDM16):c.3102C>T (p.Asn1034=)
|
rs199853370
|
0.00144
|
|
NM_000199.5(SGSH):c.641C>A (p.Ala214Asp)
|
rs74000629
|
0.00143
|
|
NM_001122630.2(CDKN1C):c.636C>T (p.Ser212=)
|
rs540923047
|
0.00143
|
|
NM_014844.5(TECPR2):c.4081+8C>A
|
rs199845217
|
0.00143
|
|
NM_015922.3(NSDHL):c.893G>T (p.Trp298Leu)
|
rs139186585
|
0.00143
|
|
NM_024867.4(SPEF2):c.1633C>T (p.Pro545Ser)
|
rs185000070
|
0.00143
|
|
NM_030780.5(SLC25A32):c.899A>G (p.Tyr300Cys)
|
rs141856398
|
0.00143
|
|
NM_000064.4(C3):c.2901C>T (p.Leu967=)
|
rs34029609
|
0.00142
|
|
NM_000789.4(ACE):c.945+16A>G
|
rs201274031
|
0.00142
|
|
NM_001144869.3(LIPT2):c.273C>T (p.Phe91=)
|
rs192239391
|
0.00142
|
|
NM_001735.3(C5):c.3303T>C (p.Cys1101=)
|
rs145979468
|
0.00142
|
|
NM_004385.5(VCAN):c.1864T>C (p.Trp622Arg)
|
rs147152203
|
0.00142
|
|
NM_004752.4(GCM2):c.306G>A (p.Arg102=)
|
rs149143032
|
0.00142
|
|
NM_015713.5(RRM2B):c.48+48C>T
|
rs201028777
|
0.00142
|
|
NM_017570.5(OPLAH):c.2964C>T (p.Asp988=)
|
rs186192116
|
0.00142
|
|
NM_019066.5(MAGEL2):c.2074G>A (p.Val692Ile)
|
rs200926181
|
0.00142
|
|
NM_025074.7(FRAS1):c.5947C>T (p.Leu1983=)
|
rs74893124
|
0.00142
|
|
NM_025074.7(FRAS1):c.789+12T>G
|
rs142206350
|
0.00142
|
|
NM_000336.3(SCNN1B):c.147A>G (p.Lys49=)
|
rs80027401
|
0.00141
|
|
NM_000478.6(ALPL):c.859T>C (p.Leu287=)
|
rs141742288
|
0.00141
|
|
NM_001037333.3(CYFIP2):c.438C>T (p.Ala146=)
|
rs375762537
|
0.00141
|
|
NM_001711.6(BGN):c.111C>T (p.Asn37=)
|
rs145819764
|
0.00141
|
|
NM_002968.3(SALL1):c.3942C>T (p.Phe1314=)
|
rs189411650
|
0.00141
|
|
NM_004937.3(CTNS):c.327C>T (p.Thr109=)
|
rs150554216
|
0.00141
|
|
NM_005765.3(ATP6AP2):c.1050T>C (p.Asp350=)
|
rs79790275
|
0.00141
|
|
NM_015910.7(WDPCP):c.1263A>C (p.Leu421Phe)
|
rs189817127
|
0.00141
|
|
NM_020381.4(PDSS2):c.431+17C>T
|
rs192411971
|
0.00141
|
|
NM_024408.4(NOTCH2):c.6223G>A (p.Val2075Met)
|
rs150516342
|
0.00141
|
|
NM_207361.6(FREM2):c.5544G>A (p.Glu1848=)
|
rs114674141
|
0.00141
|
|
NM_000152.5(GAA):c.1352C>G (p.Pro451Arg)
|
rs7215458
|
0.00140
|
|
NM_000540.3(RYR1):c.11141+7A>G
|
rs78350770
|
0.00140
|
|
NM_001122764.3(PPOX):c.1206A>C (p.Gly402=)
|
rs112762537
|
0.00140
|
|
NM_001123385.2(BCOR):c.4680G>A (p.Thr1560=)
|
rs146007249
|
0.00140
|
|
NM_001277115.2(DNAH11):c.6067A>G (p.Ile2023Val)
|
rs72657339
|
0.00140
|
|
NM_002968.3(SALL1):c.264C>T (p.Ser88=)
|
rs143501736
|
0.00140
|
|
NM_000051.4(ATM):c.1066-6T>G
|
rs201686625
|
0.00139
|
|
NM_001009944.3(PKD1):c.11538-11C>T
|
rs377692278
|
0.00139
|
|
NM_002473.6(MYH9):c.705+14C>T
|
rs142552338
|
0.00139
|
|
NM_004629.2(FANCG):c.646+12A>G
|
rs17878604
|
0.00139
|
|
NM_173551.5(ANKS6):c.615C>T (p.Ala205=)
|
rs145249233
|
0.00139
|
|
NM_000548.5(TSC2):c.2565C>T (p.His855=)
|
rs143537386
|
0.00138
|
|
NM_001330260.2(SCN8A):c.2098A>T (p.Ile700Leu)
|
rs187153231
|
0.00138
|
|
NM_001384479.1(AGT):c.1298C>T
|
rs61751077
|
0.00138
|
|
NM_002529.4(NTRK1):c.287+12G>A
|
rs202238126
|
0.00138
|
|
NM_003718.5(CDK13):c.1207C>T (p.Leu403Phe)
|
rs3735137
|
0.00138
|
|
NM_006445.4(PRPF8):c.3447-12C>T
|
rs148435449
|
0.00138
|
|
NM_015922.3(NSDHL):c.306C>T (p.Phe102=)
|
rs141089248
|
0.00138
|
|
NM_182914.3(SYNE2):c.19135C>T (p.Arg6379Cys)
|
rs141741640
|
0.00138
|
|
NM_000478.6(ALPL):c.473-12C>T
|
rs147181132
|
0.00137
|
|
NM_001009944.3(PKD1):c.9456G>A (p.Arg3152=)
|
rs146745256
|
0.00137
|
|
NM_001605.3(AARS1):c.700C>T (p.Pro234Ser)
|
rs141840552
|
0.00137
|
|
NM_001943.5(DSG2):c.3295A>G (p.Thr1099Ala)
|
rs79068489
|
0.00137
|
|
NM_001999.4(FBN2):c.2260G>A (p.Gly754Ser)
|
rs145259927
|
0.00137
|
|
NM_001999.4(FBN2):c.2555-7A>G
|
rs28763949
|
0.00137
|
|
NM_015215.4(CAMTA1):c.1955C>T (p.Ser652Leu)
|
rs144242373
|
0.00137
|
|
NM_021828.5(HPSE2):c.1476C>T (p.Tyr492=)
|
rs140154839
|
0.00137
|
|
NM_000338.3(SLC12A1):c.189G>A (p.Arg63=)
|
rs35240149
|
0.00136
|
|
NM_000384.3(APOB):c.11788+16C>T
|
rs139704306
|
0.00136
|
|
NM_002474.3(MYH11):c.346-16G>C
|
rs74009446
|
0.00136
|
|
NM_004525.3(LRP2):c.2908+18G>A
|
rs182125868
|
0.00136
|
|
NM_017827.4(SARS2):c.963-17T>C
|
rs201465773
|
0.00136
|
|
NM_002547.3(OPHN1):c.133G>A (p.Ala45Thr)
|
rs148262378
|
0.00135
|
|
NM_014639.4(SKIC3):c.1392C>T (p.Tyr464=)
|
rs142058280
|
0.00135
|
|
NM_014639.4(SKIC3):c.1427C>G (p.Thr476Arg)
|
rs148648401
|
0.00135
|
|
NM_015662.3(IFT172):c.4755+9G>C
|
rs375261962
|
0.00135
|
|
NM_001497.4(B4GALT1):c.1050A>G (p.Glu350=)
|
rs147070468
|
0.00134
|
|
NM_002860.4(ALDH18A1):c.1329C>T (p.Ile443=)
|
rs117709404
|
0.00134
|
|
NM_032793.5(MFSD2A):c.93+16C>A
|
rs189000715
|
0.00134
|
|
NM_000054.7(AVPR2):c.105G>A (p.Leu35=)
|
rs5197
|
0.00133
|
|
NM_000195.5(HPS1):c.1406A>G (p.Gln469Arg)
|
rs148978269
|
0.00133
|
|
NM_000393.5(COL5A2):c.2011C>T (p.Pro671Ser)
|
rs139189200
|
0.00133
|
|
NM_002857.4(PEX19):c.346+14A>G
|
rs77156017
|
0.00133
|
|
NM_014014.5(SNRNP200):c.5766C>T (p.Leu1922=)
|
rs147427344
|
0.00133
|
|
NM_015330.6(SPECC1L):c.2149A>G (p.Thr717Ala)
|
rs6004132
|
0.00133
|
|
NM_052989.3(IFT122):c.1103G>A (p.Ser368Asn)
|
rs150550701
|
0.00133
|
|
NM_001282531.3(ADNP):c.2931A>G (p.Gly977=)
|
rs144684998
|
0.00132
|
|
NM_022166.4(XYLT1):c.1588-3C>T
|
rs201818754
|
0.00132
|
|
NM_024570.4(RNASEH2B):c.859G>T (p.Ala287Ser)
|
rs144408326
|
0.00132
|
|
NM_001127217.3(SMAD9):c.1004-8G>A
|
rs146507864
|
0.00131
|
|
NM_001366110.1(PAX4):c.636C>T (p.Asp212=)
|
rs141407429
|
0.00131
|
|
NM_003611.3(OFD1):c.1654+14T>A
|
rs192720874
|
0.00131
|
|
NM_000196.4(HSD11B2):c.817G>A (p.Val273Met)
|
rs140385822
|
0.00130
|
|
NM_000789.4(ACE):c.3489C>T (p.Ala1163=)
|
rs4979
|
0.00130
|
|
NM_001098484.3(SLC4A4):c.1322+15C>T
|
rs151292808
|
0.00130
|
|
NM_001127222.2(CACNA1A):c.7262C>T (p.Pro2421Leu)
|
rs573961089
|
0.00130
|
|
NM_001130438.3(SPTAN1):c.5775C>T (p.Thr1925=)
|
rs140353002
|
0.00130
|
|
NM_001943.5(DSG2):c.2368C>T (p.His790Tyr)
|
rs114544564
|
0.00130
|
|
NM_006180.6(NTRK2):c.500C>A (p.Ser167Tyr)
|
rs76950094
|
0.00130
|
|
NM_006662.3(SRCAP):c.8755C>T (p.Leu2919Phe)
|
rs149217909
|
0.00130
|
|
NM_021098.3(CACNA1H):c.1213-18C>T
|
rs57432507
|
0.00130
|
|
NM_022370.4(ROBO3):c.46G>A (p.Ala16Thr)
|
rs189616702
|
0.00130
|
|
NM_024685.4(BBS10):c.1245T>C (p.His415=)
|
rs147241753
|
0.00130
|
|
NM_173689.7(CRB2):c.606G>A (p.Leu202=)
|
rs201174974
|
0.00130
|
|
NM_001081.4(CUBN):c.349-8A>G
|
rs188559699
|
0.00129
|
|
NM_001267550.2(TTN):c.32555-6T>C
|
rs375742678
|
0.00129
|
|
NM_001360.3(DHCR7):c.208G>A (p.Gly70Ser)
|
rs144512551
|
0.00129
|
|
NM_003392.7(WNT5A):c.14T>C (p.Ile5Thr)
|
rs200914260
|
0.00129
|
|
NM_004360.5(CDH1):c.88C>A (p.Pro30Thr)
|
rs139866691
|
0.00129
|
|
NM_004525.3(LRP2):c.12287T>C (p.Ile4096Thr)
|
rs137922929
|
0.00129
|
|
NM_014714.4(IFT140):c.2067+12C>T
|
rs201954701
|
0.00129
|
|
NM_015570.4(AUTS2):c.1464C>T (p.Tyr488=)
|
rs143055091
|
0.00129
|
|
NM_018979.4(WNK1):c.677A>T (p.Glu226Val)
|
rs72647373
|
0.00129
|
|
NM_024753.5(TTC21B):c.1867T>C (p.Leu623=)
|
rs140107312
|
0.00129
|
|
NM_000256.3(MYBPC3):c.3106C>T (p.Arg1036Cys)
|
rs61729664
|
0.00128
|
|
NM_000836.4(GRIN2D):c.3879C>T (p.His1293=)
|
rs370934587
|
0.00128
|
|
NM_001042545.2(LTBP4):c.858G>A (p.Gly286=)
|
rs146234365
|
0.00128
|
|
NM_001144967.3(NEDD4L):c.122+9G>C
|
rs115907798
|
0.00128
|
|
NM_001378969.1(KCND3):c.117T>C (p.Asp39=)
|
rs12720446
|
0.00128
|
|
NM_001943.5(DSG2):c.1875G>C (p.Leu625=)
|
rs35743180
|
0.00128
|
|
NM_002661.5(PLCG2):c.3573G>A (p.Glu1191=)
|
rs201682723
|
0.00128
|
|
NM_003072.5(SMARCA4):c.1419+9C>T
|
rs374635008
|
0.00128
|
|
NM_003401.5(XRCC4):c.224T>C (p.Leu75Ser)
|
rs61762970
|
0.00128
|
|
NM_004655.4(AXIN2):c.1952C>T (p.Ser651Leu)
|
rs74006838
|
0.00128
|
|
NM_015338.6(ASXL1):c.252+11T>C
|
rs143337375
|
0.00128
|
|
NM_173354.5(SIK1):c.1119+7G>A
|
rs201075575
|
0.00128
|
|
NM_177438.3(DICER1):c.4891T>G (p.Ser1631Ala)
|
rs145551486
|
0.00128
|
|
NM_000059.4(BRCA2):c.8149G>T (p.Ala2717Ser)
|
rs28897747
|
0.00127
|
|
NM_000458.4(HNF1B):c.951C>G (p.Ala317=)
|
rs145750370
|
0.00127
|
|
NM_001042492.3(NF1):c.7584A>G (p.Gln2528=)
|
rs55865524
|
0.00127
|
|
NM_001369.3(DNAH5):c.13286G>A (p.Arg4429Gln)
|
rs61744047
|
0.00127
|
|
NM_002025.4(AFF2):c.2656C>G (p.Pro886Ala)
|
rs151043891
|
0.00127
|
|
NM_006265.3(RAD21):c.-32-1G>A
|
rs16889042
|
0.00127
|
|
NM_000287.4(PEX6):c.1480-5C>T
|
rs376473597
|
0.00126
|
|
NM_001080517.3(SETD5):c.3196-8C>T
|
rs373633825
|
0.00126
|
|
NM_017780.4(CHD7):c.3522+13T>A
|
rs199581494
|
0.00126
|
|
NM_020831.6(MRTFA):c.2245C>A (p.Leu749Ile)
|
rs144758927
|
0.00126
|
|
NM_021098.3(CACNA1H):c.6322G>A (p.Ala2108Thr)
|
rs56930660
|
0.00126
|
|
NM_001009944.3(PKD1):c.12816C>T (p.Ser4272=)
|
rs199569478
|
0.00125
|
|
NM_001289104.2(PRKCSH):c.807C>T (p.Tyr269=)
|
rs201337319
|
0.00125
|
|
NM_007078.3(LDB3):c.689+10G>A
|
rs45563234
|
0.00125
|
|
NM_014714.4(IFT140):c.1359+12G>C
|
rs150859038
|
0.00125
|
|
NM_052989.3(IFT122):c.3462G>A (p.Leu1154=)
|
rs150692598
|
0.00125
|
|
NM_001018115.3(FANCD2):c.983G>A (p.Arg328Gln)
|
rs35625434
|
0.00124
|
|
NM_001378615.1(CC2D2A):c.2181+7A>C
|
rs143681243
|
0.00124
|
|
NM_001458.5(FLNC):c.597C>T (p.Ala199=)
|
rs143942649
|
0.00124
|
|
NM_004415.4(DSP):c.522T>C (p.Cys174=)
|
rs144781697
|
0.00124
|
|
NM_005445.4(SMC3):c.1671-6A>G
|
rs200848781
|
0.00124
|
|
NM_175875.5(SIX5):c.1609+14C>T
|
rs200640688
|
0.00124
|
|
NM_000168.6(GLI3):c.1671C>T (p.Tyr557=)
|
rs143948870
|
0.00123
|
|
NM_000455.5(STK11):c.598-8C>T
|
rs373610101
|
0.00123
|
|
NM_001042492.3(NF1):c.1810T>C (p.Leu604=)
|
rs142712751
|
0.00123
|
|
NM_002878.4(RAD51D):c.263+1588A>G
|
rs180869630
|
0.00123
|
|
NM_004628.5(XPC):c.1497G>A (p.Ala499=)
|
rs150344169
|
0.00123
|
|
NM_004998.4(MYO1E):c.147+14G>T
|
rs183374173
|
0.00123
|
|
NM_005045.4(RELN):c.3123C>T (p.Gly1041=)
|
rs41276148
|
0.00123
|
|
NM_005585.5(SMAD6):c.336C>A (p.Gly112=)
|
rs371330988
|
0.00123
|
|
NM_030973.4(MED25):c.1675-7C>T
|
rs79635160
|
0.00123
|
|
NM_177438.3(DICER1):c.1908-4A>G
|
rs112284114
|
0.00123
|
|
NM_177438.3(DICER1):c.3213A>G (p.Arg1071=)
|
rs148959399
|
0.00123
|
|
NM_000271.5(NPC1):c.612C>T (p.Thr204=)
|
rs151084683
|
0.00122
|
|
NM_006432.5(NPC2):c.88G>A (p.Val30Met)
|
rs151220873
|
0.00122
|
|
NM_021098.3(CACNA1H):c.4248C>G (p.Leu1416=)
|
rs58110066
|
0.00122
|
|
NM_032409.3(PINK1):c.387+20A>G
|
rs368222506
|
0.00122
|
|
NM_033004.4(NLRP1):c.923G>A (p.Arg308Gln)
|
rs140628502
|
0.00122
|
|
NM_177438.3(DICER1):c.5604-12G>A
|
rs149841885
|
0.00122
|
|
NM_201253.3(CRB1):c.2977G>A (p.Glu993Lys)
|
rs151092557
|
0.00122
|
|
NM_000069.3(CACNA1S):c.5371-19C>T
|
rs201064986
|
0.00121
|
|
NM_000176.3(NR3C1):c.2182-9C>G
|
rs72542757
|
0.00121
|
|
NM_000214.3(JAG1):c.909T>C (p.His303=)
|
rs139574260
|
0.00121
|
|
NM_000260.4(MYO7A):c.4805G>A (p.Arg1602Gln)
|
rs139889944
|
0.00121
|
|
NM_000562.3(C8A):c.606T>C (p.Asp202=)
|
rs150755683
|
0.00121
|
|
NM_005343.4(HRAS):c.357C>T (p.Asp119=)
|
rs111352454
|
0.00121
|
|
NM_006662.3(SRCAP):c.3097T>C (p.Ser1033Pro)
|
rs202000509
|
0.00121
|
|
NM_014994.3(MAPKBP1):c.1970C>T (p.Thr657Ile)
|
rs139165608
|
0.00121
|
|
NM_017570.5(OPLAH):c.2346G>T (p.Leu782=)
|
rs370115329
|
0.00121
|
|
NM_018062.4(FANCL):c.1115G>C (p.Gly372Ala)
|
rs149803148
|
0.00121
|
|
NM_020436.5(SALL4):c.1950C>T (p.Gly650=)
|
rs149008635
|
0.00121
|
|
NM_153240.5(NPHP3):c.3189A>G (p.Lys1063=)
|
rs112386774
|
0.00121
|
|
NM_153240.5(NPHP3):c.3570+9G>T
|
rs112749193
|
0.00121
|
|
NM_198578.4(LRRK2):c.3333G>T (p.Gln1111His)
|
rs78365431
|
0.00121
|
|
NM_000089.4(COL1A2):c.1383C>T (p.Pro461=)
|
rs139726213
|
0.00120
|
|
NM_001009944.3(PKD1):c.1281G>A (p.Ala427=)
|
rs141553109
|
0.00120
|
|
NM_004998.4(MYO1E):c.1616+17A>G
|
rs138790400
|
0.00120
|
|
NM_014822.4(SEC24D):c.1042-6C>G
|
rs117971741
|
0.00120
|
|
NM_014967.5(FAN1):c.2052+16C>G
|
rs186701091
|
0.00120
|
|
NM_015512.5(DNAH1):c.4941G>A (p.Ala1647=)
|
rs369578432
|
0.00120
|
|
NM_020436.5(SALL4):c.1353C>T (p.Ala451=)
|
rs140110863
|
0.00120
|
|
NM_153240.5(NPHP3):c.3093A>G (p.Glu1031=)
|
rs112300370
|
0.00120
|
|
NM_212482.4(FN1):c.6923T>C (p.Val2308Ala)
|
rs545761792
|
0.00120
|
|
NM_001110792.2(MECP2):c.246C>T (p.Ser82=)
|
rs61754439
|
0.00119
|
|
NM_001367916.1(MAGT1):c.932T>G (p.Val311Gly)
|
rs145245774
|
0.00119
|
|
NM_001458.5(FLNC):c.4947C>T (p.Gly1649=)
|
rs201069454
|
0.00119
|
|
NM_004366.6(CLCN2):c.1930C>T (p.Arg644Cys)
|
rs148545588
|
0.00119
|
|
NM_001369.3(DNAH5):c.12472C>T (p.Arg4158Trp)
|
rs3756672
|
0.00118
|
|
NM_002968.3(SALL1):c.3794G>A (p.Gly1265Glu)
|
rs149302006
|
0.00118
|
|
NM_017827.4(SARS2):c.696C>T (p.Arg232=)
|
rs35389151
|
0.00118
|
|
NM_021098.3(CACNA1H):c.6543G>A (p.Ala2181=)
|
rs117964326
|
0.00118
|
|
NM_206933.4(USH2A):c.4698G>A (p.Gln1566=)
|
rs143218330
|
0.00118
|
|
NM_000202.8(IDS):c.126C>T (p.Ile42=)
|
rs146963087
|
0.00117
|
|
NM_000545.8(HNF1A):c.1446C>T (p.Ser482=)
|
rs147366495
|
0.00117
|
|
NM_004463.3(FGD1):c.395G>A (p.Arg132Gln)
|
rs145644275
|
0.00117
|
|
NM_021098.3(CACNA1H):c.1059C>T (p.Asn353=)
|
rs59310656
|
0.00117
|
|
NM_032607.3(CREB3L3):c.544G>A (p.Asp182Asn)
|
rs140312652
|
0.00117
|
|
NM_144585.4(SLC22A12):c.661+20C>T
|
rs200442779
|
0.00117
|
|
NM_173660.5(DOK7):c.1507C>A (p.Pro503Thr)
|
rs184556570
|
0.00117
|
|
NM_182643.3(DLC1):c.2147T>C (p.Ile716Thr)
|
rs114637912
|
0.00117
|
|
NM_001009944.3(PKD1):c.588C>T (p.Ser196=)
|
rs776302294
|
0.00116
|
|
NM_001041.4(SI):c.3972A>G (p.Pro1324=)
|
rs142838806
|
0.00116
|
|
NM_001145809.2(MYH14):c.563-17C>A
|
rs201570558
|
0.00116
|
|
NM_001369.3(DNAH5):c.7752+7C>G
|
rs143848918
|
0.00116
|
|
NM_001377265.1(MAPT):c.2074G>A (p.Val692Ile)
|
rs116733906
|
0.00116
|
|
NM_001458.5(FLNC):c.6309C>T (p.Thr2103=)
|
rs376992044
|
0.00116
|
|
NM_003383.5(VLDLR):c.1074C>T (p.Asn358=)
|
rs115059319
|
0.00116
|
|
NM_005506.4(SCARB2):c.246G>C (p.Arg82=)
|
rs35035064
|
0.00116
|
|
NM_018979.4(WNK1):c.5284C>T (p.Leu1762=)
|
rs72650741
|
0.00116
|
|
NM_021813.4(BACH2):c.2418G>C (p.Glu806Asp)
|
rs141976854
|
0.00116
|
|
NM_144585.4(SLC22A12):c.1428C>T (p.Ala476=)
|
rs146694365
|
0.00116
|
|
NM_000202.8(IDS):c.123C>G (p.Leu41=)
|
rs146904022
|
0.00115
|
|
NM_000377.3(WAS):c.1453+16C>T
|
rs200543049
|
0.00115
|
|
NM_000407.5(GP1BB):c.119G>A (p.Gly40Glu)
|
rs375285857
|
0.00115
|
|
NM_005515.4(MNX1):c.691+10C>G
|
rs201139239
|
0.00115
|
|
NM_014946.4(SPAST):c.415+12G>A
|
rs539075273
|
0.00115
|
|
NM_017617.5(NOTCH1):c.7648A>G (p.Ile2550Val)
|
rs188270459
|
0.00115
|
|
NM_030943.4(AMN):c.1169+11C>G
|
rs764673271
|
0.00115
|
|
NM_000061.3(BTK):c.615G>T (p.Glu205Asp)
|
rs35877704
|
0.00114
|
|
NM_001127222.2(CACNA1A):c.1518T>C (p.Val506=)
|
rs16009
|
0.00114
|
|
NM_001378454.1(ALMS1):c.10788G>C (p.Val3596=)
|
rs45445398
|
0.00114
|
|
NM_004944.4(DNASE1L3):c.501G>A (p.Glu167=)
|
rs149185668
|
0.00114
|
|
NM_005026.5(PIK3CD):c.2919C>T (p.Leu973=)
|
rs143168081
|
0.00114
|
|
NM_018076.5(ODAD2):c.1353T>C (p.Tyr451=)
|
rs149432727
|
0.00114
|
|
NM_021098.3(CACNA1H):c.643+11G>A
|
rs200949826
|
0.00114
|
|
NM_000719.7(CACNA1C):c.1074G>A (p.Gln358=)
|
rs139842134
|
0.00113
|
|
NM_001009944.3(PKD1):c.8161+12C>T
|
rs375283810
|
0.00113
|
|
NM_001070.5(TUBG1):c.813C>T (p.Thr271=)
|
rs147337786
|
0.00113
|
|
NM_003136.4(SRP54):c.636A>C (p.Ile212=)
|
rs140228686
|
0.00113
|
|
NM_032119.4(ADGRV1):c.16472G>A (p.Ser5491Asn)
|
rs199796758
|
0.00113
|
|
NM_033305.3(VPS13A):c.4041C>T (p.Ala1347=)
|
rs74983687
|
0.00113
|
|
NM_173551.5(ANKS6):c.1008G>A (p.Thr336=)
|
rs373872443
|
0.00113
|
|
NM_212482.4(FN1):c.2130C>T (p.Thr710=)
|
rs140116931
|
0.00113
|
|
NM_000236.3(LIPC):c.1064A>G (p.Gln355Arg)
|
rs140272400
|
0.00112
|
|
NM_000497.4(CYP11B1):c.456C>G (p.Asn152Lys)
|
rs61751149
|
0.00112
|
|
NM_004366.6(CLCN2):c.616-19C>T
|
rs189868847
|
0.00112
|
|
NM_004655.4(AXIN2):c.2051C>T (p.Ala684Val)
|
rs138287857
|
0.00112
|
|
NM_005751.5(AKAP9):c.288G>T (p.Glu96Asp)
|
rs34953651
|
0.00112
|
|
NM_015378.4(VPS13D):c.1114G>A (p.Glu372Lys)
|
rs76782506
|
0.00112
|
|
NM_021023.6(CFHR3):c.805A>G (p.Ile269Val)
|
rs139520520
|
0.00112
|
|
NM_153700.2(STRC):c.4917A>C (p.Leu1639=)
|
rs2860666
|
0.00112
|
|
NM_001384732.1(CPLANE1):c.8374-15G>A
|
rs74881219
|
0.00111
|
|
NM_001458.5(FLNC):c.4581-5T>A
|
rs368660628
|
0.00111
|
|
NM_002661.5(PLCG2):c.1671G>A (p.Lys557=)
|
rs372347274
|
0.00111
|
|
NM_003227.4(TFR2):c.2137-5C>T
|
rs374964799
|
0.00111
|
|
NM_004069.6(AP2S1):c.75T>C (p.Asp25=)
|
rs150080027
|
0.00111
|
|
NM_004366.6(CLCN2):c.1086-17G>A
|
rs200509841
|
0.00111
|
|
NM_004407.4(DMP1):c.600G>A (p.Gly200=)
|
rs34682707
|
0.00111
|
|
NM_004795.4(KL):c.2532G>A (p.Gln844=)
|
rs149775738
|
0.00111
|
|
NM_015158.5(KANK1):c.1103G>A (p.Arg368Gln)
|
rs149775124
|
0.00111
|
|
NM_022168.4(IFIH1):c.1046A>G (p.Lys349Arg)
|
rs72650664
|
0.00111
|
|
NM_053025.4(MYLK):c.1132C>G (p.Arg378Gly)
|
rs11920433
|
0.00111
|
|
NM_000196.4(HSD11B2):c.1164C>T (p.Asp388=)
|
rs45578842
|
0.00110
|
|
NM_001098484.3(SLC4A4):c.678C>T (p.Asp226=)
|
rs146394238
|
0.00110
|
|
NM_001458.5(FLNC):c.3000T>C (p.Asp1000=)
|
rs184454068
|
0.00110
|
|
NM_001963.6(EGF):c.3189A>G (p.Leu1063=)
|
rs41456944
|
0.00110
|
|
NM_004924.6(ACTN4):c.2016C>T (p.Ile672=)
|
rs137985903
|
0.00110
|
|
NM_020436.5(SALL4):c.2166A>G (p.Leu722=)
|
rs141708963
|
0.00110
|
|
NM_000092.5(COL4A4):c.1819G>A (p.Ala607Thr)
|
rs75539253
|
0.00109
|
|
NM_000478.6(ALPL):c.182-15C>G
|
rs201873253
|
0.00109
|
|
NM_001009944.3(PKD1):c.580G>A (p.Ala194Thr)
|
rs769369111
|
0.00109
|
|
NM_001197104.2(KMT2A):c.6572G>A (p.Arg2191Gln)
|
rs141727765
|
0.00109
|
|
NM_004006.3(DMD):c.7571G>A (p.Arg2524His)
|
rs151244052
|
0.00109
|
|
NM_004366.6(CLCN2):c.1128G>A (p.Thr376=)
|
rs149773402
|
0.00109
|
|
NM_024301.5(FKRP):c.520A>T (p.Ser174Cys)
|
rs200990647
|
0.00109
|
|
NM_173551.5(ANKS6):c.1533A>C (p.Ala511=)
|
rs200743968
|
0.00109
|
|
NM_178161.3(PTF1A):c.386C>T (p.Ala129Val)
|
rs370163562
|
0.00109
|
|
NM_000030.3(AGXT):c.573C>T (p.Thr191=)
|
rs146483092
|
0.00108
|
|
NM_000336.3(SCNN1B):c.1152+10T>C
|
rs72654341
|
0.00108
|
|
NM_001022.4(RPS19):c.60C>G (p.Ala20=)
|
rs149249194
|
0.00108
|
|
NM_001171.6(ABCC6):c.1432-9C>T
|
rs201633047
|
0.00108
|
|
NM_001256071.3(RNF213):c.13782G>A (p.Ala4594=)
|
rs145076497
|
0.00108
|
|
NM_001365951.3(KIF1B):c.5097-9C>T
|
rs376873833
|
0.00108
|
|
NM_001735.3(C5):c.4762+14C>T
|
rs372929361
|
0.00108
|
|
NM_001807.6(CEL):c.1716C>G (p.Pro572=)
|
rs200152972
|
0.00108
|
|
NM_002334.4(LRP4):c.430+15C>T
|
rs199835230
|
0.00108
|
|
NM_002335.4(LRP5):c.2193C>T (p.Asn731=)
|
rs147388442
|
0.00108
|
|
NM_003476.5(CSRP3):c.*12G>A
|
rs45607943
|
0.00108
|
|
NM_014956.5(CEP164):c.3556C>T (p.Leu1186=)
|
rs138861857
|
0.00108
|
|
NM_015278.5(SASH1):c.2459G>A (p.Arg820Gln)
|
rs144633784
|
0.00108
|
|
NM_017841.4(SDHAF2):c.32C>T (p.Ser11Leu)
|
rs148425779
|
0.00108
|
|
NM_017909.4(RMND1):c.1209T>C (p.Asn403=)
|
rs75177593
|
0.00108
|
|
NM_018979.4(WNK1):c.1154-16G>A
|
rs72648630
|
0.00108
|
|
NM_022773.4(LMF1):c.1092G>A (p.Arg364=)
|
rs111829625
|
0.00108
|
|
NM_024101.7(MLPH):c.522G>A (p.Glu174=)
|
rs181807989
|
0.00108
|
|
NM_057176.3(BSND):c.177+15G>C
|
rs193020037
|
0.00108
|
|
NM_152296.5(ATP1A3):c.357C>T (p.Asn119=)
|
rs143547136
|
0.00108
|
|
NM_201378.4(PLEC):c.71-11512C>T
|
rs201053471
|
0.00108
|
|
NM_001282531.3(ADNP):c.2943G>T (p.Val981=)
|
rs143103063
|
0.00107
|
|
NM_001378452.1(ITPR1):c.4254G>T (p.Val1418=)
|
rs142527379
|
0.00107
|
|
NM_003482.4(KMT2D):c.1938C>G (p.Pro646=)
|
rs147212187
|
0.00107
|
|
NM_003718.5(CDK13):c.2180C>T (p.Thr727Ile)
|
rs140848307
|
0.00107
|
|
NM_004646.4(NPHS1):c.3482-7A>T
|
rs73928326
|
0.00107
|
|
NM_006180.6(NTRK2):c.2478G>A (p.Leu826=)
|
rs138503321
|
0.00107
|
|
NM_014049.5(ACAD9):c.988A>C (p.Lys330Gln)
|
rs79530903
|
0.00107
|
|
NM_015443.4(KANSL1):c.1116A>G (p.Lys372=)
|
rs62639965
|
0.00107
|
|
NM_020223.4(FAM20C):c.731C>T (p.Pro244Leu)
|
rs116181849
|
0.00107
|
|
NM_178170.3(NEK8):c.889+18G>A
|
rs141084448
|
0.00107
|
|
NM_000302.4(PLOD1):c.564G>C (p.Leu188Phe)
|
rs201888323
|
0.00106
|
|
NM_001042750.2(STAG2):c.45-11T>C
|
rs183562950
|
0.00106
|
|
NM_001374353.1(GLI2):c.2437T>C (p.Phe813Leu)
|
rs556743028
|
0.00106
|
|
NM_002335.4(LRP5):c.1221G>A (p.Ala407=)
|
rs150970251
|
0.00106
|
|
NM_002473.6(MYH9):c.1228-16C>T
|
rs186815044
|
0.00106
|
|
NM_003098.3(SNTA1):c.1488C>A (p.Ala496=)
|
rs34901081
|
0.00106
|
|
NM_007294.4(BRCA1):c.3083G>A (p.Arg1028His)
|
rs80357459
|
0.00106
|
|
NM_014874.4(MFN2):c.165C>T (p.Thr55=)
|
rs77458527
|
0.00106
|
|
NM_014874.4(MFN2):c.408A>T (p.Val136=)
|
rs78814413
|
0.00106
|
|
NM_024120.5(NDUFAF5):c.1029A>G (p.Lys343=)
|
rs146052819
|
0.00106
|
|
NM_052865.4(MGME1):c.242C>G (p.Pro81Arg)
|
rs150656271
|
0.00106
|
|
NM_139027.6(ADAMTS13):c.2708C>T (p.Ser903Leu)
|
rs78977446
|
0.00106
|
|
NM_212482.4(FN1):c.416-17C>T
|
rs142394008
|
0.00106
|
|
NM_000071.3(CBS):c.1643G>A (p.Arg548Gln)
|
rs150828989
|
0.00105
|
|
NM_000186.4(CFH):c.1935G>T (p.Thr645=)
|
rs56035657
|
0.00105
|
|
NM_000234.3(LIG1):c.140C>T (p.Ser47Phe)
|
rs41555118
|
0.00105
|
|
NM_000352.6(ABCC8):c.1924-17C>T
|
rs117189973
|
0.00105
|
|
NM_001735.3(C5):c.5031A>G (p.Ter1677=)
|
rs140229894
|
0.00105
|
|
NM_001843.4(CNTN1):c.400+13T>C
|
rs201396853
|
0.00105
|
|
NM_004565.3(PEX14):c.208T>G (p.Ser70Ala)
|
rs77261230
|
0.00105
|
|
NM_005802.5(TOPORS):c.2349G>A (p.Gly783=)
|
rs147559581
|
0.00105
|
|
NM_006059.4(LAMC3):c.558C>T (p.Arg186=)
|
rs2275135
|
0.00105
|
|
NM_006662.3(SRCAP):c.5403C>T (p.Ala1801=)
|
rs140196853
|
0.00105
|
|
NM_032229.3(SLITRK6):c.592T>C (p.Leu198=)
|
rs80087848
|
0.00105
|
|
NM_000085.5(CLCNKB):c.794C>G (p.Ser265Cys)
|
rs140218299
|
0.00104
|
|
NM_015713.5(RRM2B):c.685-20A>T
|
rs142382577
|
0.00104
|
|
NM_021975.4(RELA):c.8-10C>T
|
rs200603499
|
0.00104
|
|
NM_024422.6(DSC2):c.1073C>T (p.Thr358Ile)
|
rs139399951
|
0.00104
|
|
NM_177965.4(CFAP418):c.155+20T>G
|
rs202045168
|
0.00104
|
|
NM_000065.5(C6):c.933T>C (p.Ser311=)
|
rs75043846
|
0.00103
|
|
NM_000587.4(C7):c.1258A>C (p.Lys420Gln)
|
rs3792646
|
0.00103
|
|
NM_000709.4(BCKDHA):c.15C>T (p.Ile5=)
|
rs17173144
|
0.00103
|
|
NM_000944.5(PPP3CA):c.1241+17T>C
|
rs202222838
|
0.00103
|
|
NM_001256071.3(RNF213):c.305C>G (p.Ser102Cys)
|
rs143184273
|
0.00103
|
|
NM_001365999.1(SZT2):c.7256G>A (p.Arg2419Gln)
|
rs72637949
|
0.00103
|
|
NM_003738.5(PTCH2):c.1994G>A (p.Arg665His)
|
rs138588008
|
0.00103
|
|
NM_014588.6(VSX1):c.2T>A (p.Met1Lys)
|
rs192303122
|
0.00103
|
|
NM_206933.4(USH2A):c.2256T>C (p.His752=)
|
rs111033281
|
0.00103
|
|
NM_000093.5(COL5A1):c.3855C>T (p.Gly1285=)
|
rs139544503
|
0.00102
|
|
NM_000552.5(VWF):c.2739A>C (p.Gly913=)
|
rs35191786
|
0.00102
|
|
NM_001099922.3(ALG13):c.150C>T (p.Pro50=)
|
rs147897682
|
0.00102
|
|
NM_004380.3(CREBBP):c.2678C>T (p.Ser893Leu)
|
rs142047649
|
0.00102
|
|
NM_005491.5(MAMLD1):c.1291C>T (p.Leu431Phe)
|
rs144862058
|
0.00102
|
|
NM_019594.4(LRRC8A):c.1606G>A (p.Val536Ile)
|
rs138622041
|
0.00102
|
|
NM_000278.5(PAX2):c.213-8C>T
|
rs369615430
|
0.00101
|
|
NM_000336.3(SCNN1B):c.1190G>T (p.Arg397Leu)
|
rs61729789
|
0.00101
|
|
NM_000548.5(TSC2):c.275A>T (p.Glu92Val)
|
rs137853994
|
0.00101
|
|
NM_001111.5(ADAR):c.1935-19G>A
|
rs200651742
|
0.00101
|
|
NM_001206927.2(DNAH8):c.7471A>G (p.Ile2491Val)
|
rs148698911
|
0.00101
|
|
NM_001374385.1(ATP8B1):c.2931+14G>A
|
rs34451179
|
0.00101
|
|
NM_004998.4(MYO1E):c.554A>G (p.Asp185Gly)
|
rs141565214
|
0.00101
|
|
NM_005559.4(LAMA1):c.6066G>A (p.Ala2022=)
|
rs150951157
|
0.00101
|
|
NM_005751.5(AKAP9):c.9358+11T>C
|
rs199714035
|
0.00101
|
|
NM_015662.3(IFT172):c.2443-19A>G
|
rs199907803
|
0.00101
|
|
NM_153603.4(COG7):c.567T>C (p.Ser189=)
|
rs115543944
|
0.00101
|
|
NM_181332.3(NLGN4X):c.591C>T (p.Ile197=)
|
rs149003627
|
0.00101
|
|
NM_000069.3(CACNA1S):c.165G>A (p.Thr55=)
|
rs150520884
|
0.00100
|
|
NM_002335.4(LRP5):c.3723A>G (p.Pro1241=)
|
rs139554243
|
0.00100
|
|
NM_002429.6(MMP19):c.13C>T (p.Gln5Ter)
|
rs17844787
|
0.00100
|
|
NM_005918.4(MDH2):c.177G>A (p.Ala59=)
|
rs148797426
|
0.00100
|
|
NM_015662.3(IFT172):c.2787+20C>T
|
rs200344602
|
0.00100
|
|
NM_017780.4(CHD7):c.6660T>G (p.Gly2220=)
|
rs34527521
|
0.00100
|
|
NM_032861.4(SERAC1):c.1137A>G (p.Val379=)
|
rs115846131
|
0.00100
|
|
NM_033360.4(KRAS):c.5-18A>G
|
rs200189105
|
0.00100
|
|
NM_152641.4(ARID2):c.1808C>T (p.Ala603Val)
|
rs144928351
|
0.00100
|
|
NM_001395656.1(ROBO2):c.462C>T (p.Cys154=)
|
rs200353960
|
0.00099
|
|
NM_002335.4(LRP5):c.2529C>T (p.Asp843=)
|
rs143204891
|
0.00099
|
|
NM_007294.4(BRCA1):c.5277+78G>A
|
rs80358107
|
0.00099
|
|
NM_015272.5(RPGRIP1L):c.3701+19A>C
|
rs199926524
|
0.00099
|
|
NM_017570.5(OPLAH):c.2097-8C>T
|
rs376189869
|
0.00099
|
|
NM_025074.7(FRAS1):c.9228C>T (p.Thr3076=)
|
rs369529123
|
0.00099
|
|
NM_153240.5(NPHP3):c.3663C>T (p.Ala1221=)
|
rs112144165
|
0.00099
|
|
NM_212482.4(FN1):c.547+19T>C
|
rs183120644
|
0.00099
|
|
NM_000215.4(JAK3):c.1131C>T (p.His377=)
|
rs55802448
|
0.00098
|
|
NM_001046.3(SLC12A2):c.3468A>G (p.Leu1156=)
|
rs115092488
|
0.00098
|
|
NM_001171.6(ABCC6):c.2695C>T (p.Arg899Cys)
|
rs11861980
|
0.00098
|
|
NM_001199397.3(NEK1):c.3213C>T (p.Asn1071=)
|
rs184324310
|
0.00098
|
|
NM_001365999.1(SZT2):c.4983T>C (p.Asp1661=)
|
rs139810154
|
0.00098
|
|
NM_001384732.1(CPLANE1):c.994A>G (p.Met332Val)
|
rs369404481
|
0.00098
|
|
NM_005045.4(RELN):c.4748-11T>C
|
rs201494847
|
0.00098
|
|
NM_007294.4(BRCA1):c.4883T>C (p.Met1628Thr)
|
rs4986854
|
0.00098
|
|
NM_020975.6(RET):c.626-41G>A
|
rs572623103
|
0.00098
|
|
NM_024408.4(NOTCH2):c.1108+14G>A
|
rs377649578
|
0.00098
|
|
NM_000077.5(CDKN2A):c.-2G>A
|
rs191394143
|
0.00097
|
|
NM_000478.6(ALPL):c.-104-5T>C
|
rs184586988
|
0.00097
|
|
NM_001103.4(ACTN2):c.2076C>T (p.Ile692=)
|
rs144122893
|
0.00097
|
|
NM_001197104.2(KMT2A):c.9391G>A (p.Gly3131Ser)
|
rs150804738
|
0.00097
|
|
NM_000059.4(BRCA2):c.1938C>T (p.Ser646=)
|
rs28897711
|
0.00096
|
|
NM_000400.4(ERCC2):c.1737C>T (p.Val579=)
|
rs3916876
|
0.00096
|
|
NM_000548.5(TSC2):c.262C>T (p.Leu88=)
|
rs45485999
|
0.00096
|
|
NM_000593.6(TAP1):c.1976G>A (p.Arg659Gln)
|
rs121917702
|
0.00096
|
|
NM_000785.4(CYP27B1):c.1452G>A (p.Ala484=)
|
rs8176349
|
0.00096
|
|
NM_001042646.3(TRAK1):c.1451C>T (p.Pro484Leu)
|
rs138190882
|
0.00096
|
|
NM_001174096.2(ZEB1):c.2414T>C (p.Ile805Thr)
|
rs1577181
|
0.00096
|
|
NM_001376.5(DYNC1H1):c.5295A>G (p.Ala1765=)
|
rs139919955
|
0.00096
|
|
NM_001957.4(EDNRA):c.24A>G (p.Ala8=)
|
rs146092355
|
0.00096
|
|
NM_002204.4(ITGA3):c.1290C>T (p.Phe430=)
|
rs78768954
|
0.00096
|
|
NM_002834.5(PTPN11):c.526-17T>C
|
rs375184329
|
0.00096
|
|
NM_003922.4(HERC1):c.12967-4C>G
|
rs374953824
|
0.00096
|
|
NM_019109.5(ALG1):c.8C>A (p.Ala3Asp)
|
rs559805054
|
0.00096
|
|
NM_020041.3(SLC2A9):c.249+11G>T
|
rs377565288
|
0.00096
|
|
NM_020436.5(SALL4):c.1497G>T (p.Thr499=)
|
rs148435082
|
0.00096
|
|
NM_032575.3(GLIS2):c.477G>A (p.Ser159=)
|
rs148123444
|
0.00096
|
|
NM_032578.4(MYPN):c.1460-14T>A
|
rs201156035
|
0.00096
|
|
NM_173630.4(RTTN):c.805T>C (p.Phe269Leu)
|
rs141156594
|
0.00096
|
|
NM_181776.3(SLC36A2):c.426C>T (p.His142=)
|
rs79265984
|
0.00096
|
|
NM_183357.3(ADCY5):c.130C>T (p.His44Tyr)
|
rs189868197
|
0.00096
|
|
NM_207361.6(FREM2):c.5109C>T (p.Ala1703=)
|
rs11619157
|
0.00096
|
|
NM_000030.3(AGXT):c.1023C>A (p.Asp341Glu)
|
rs144007007
|
0.00095
|
|
NM_000257.4(MYH7):c.2945T>C (p.Met982Thr)
|
rs145532615
|
0.00095
|
|
NM_000379.4(XDH):c.636T>C (p.Phe212=)
|
rs140225517
|
0.00095
|
|
NM_002435.3(MPI):c.1049C>T (p.Thr350Met)
|
rs116933453
|
0.00095
|
|
NM_003047.5(SLC9A1):c.1821G>A (p.Gln607=)
|
rs139314838
|
0.00095
|
|
NM_014270.5(SLC7A9):c.1182C>T (p.Ile394=)
|
rs557019592
|
0.00095
|
|
NM_021098.3(CACNA1H):c.5494C>T (p.Leu1832=)
|
rs61732194
|
0.00095
|
|
NM_022489.4(INF2):c.507+7G>A
|
rs201568246
|
0.00095
|
|
NM_000157.4(GBA1):c.1473C>T (p.Pro491=)
|
rs149257166
|
0.00094
|
|
NM_001009944.3(PKD1):c.10326G>A (p.Ala3442=)
|
rs141138826
|
0.00094
|
|
NM_001046.3(SLC12A2):c.876+17_876+18del
|
rs556046317
|
0.00094
|
|
NM_001171.6(ABCC6):c.2659C>T (p.Arg887Cys)
|
rs59206042
|
0.00094
|
|
NM_002661.5(PLCG2):c.432-3C>T
|
rs147749022
|
0.00094
|
|
NM_005334.3(HCFC1):c.5418G>A (p.Met1806Ile)
|
rs199511876
|
0.00094
|
|
NM_021098.3(CACNA1H):c.2511C>T (p.Ala837=)
|
rs200144667
|
0.00094
|
|
NM_152424.4(AMER1):c.918G>A (p.Gly306=)
|
rs147299494
|
0.00094
|
|
NM_212482.4(FN1):c.1002G>A (p.Thr334=)
|
rs138271073
|
0.00094
|
|
NM_000069.3(CACNA1S):c.900+14C>T
|
rs377170574
|
0.00093
|
|
NM_000085.5(CLCNKB):c.1092C>T (p.Asn364=)
|
rs151266668
|
0.00093
|
|
NM_001009944.3(PKD1):c.2109C>T (p.His703=)
|
rs527655141
|
0.00093
|
|
NM_001171.6(ABCC6):c.1059C>T (p.Ala353=)
|
rs150016641
|
0.00093
|
|
NM_001197104.2(KMT2A):c.4326T>C (p.His1442=)
|
rs141961986
|
0.00093
|
|
NM_001270.4(CHD1):c.4033A>G (p.Ile1345Val)
|
rs139215644
|
0.00093
|
|
NM_001303256.3(MORC2):c.626A>G (p.Asn209Ser)
|
rs76273991
|
0.00093
|
|
NM_001735.3(C5):c.1418A>G (p.His473Arg)
|
rs78640581
|
0.00093
|
|
NM_001737.5(C9):c.974C>T (p.Ala325Val)
|
rs147068084
|
0.00093
|
|
NM_003672.4(CDC14A):c.457-6T>C
|
rs202211124
|
0.00093
|
|
NM_005515.4(MNX1):c.126A>G (p.Gly42=)
|
rs536068265
|
0.00093
|
|
NM_006662.3(SRCAP):c.7121C>A (p.Thr2374Asn)
|
rs142242633
|
0.00093
|
|
NM_018076.5(ODAD2):c.1534-19C>G
|
rs375614529
|
0.00093
|
|
NM_018206.6(VPS35):c.834T>C (p.Thr278=)
|
rs148572750
|
0.00093
|
|
NM_019109.5(ALG1):c.21C>T (p.Val7=)
|
rs149388535
|
0.00093
|
|
NM_138694.4(PKHD1):c.3097+15G>T
|
rs376878007
|
0.00093
|
|
NM_000214.3(JAG1):c.1578C>T (p.Ile526=)
|
rs1801139
|
0.00092
|
|
NM_001009944.3(PKD1):c.5142C>T (p.Phe1714=)
|
rs144663361
|
0.00092
|
|
NM_001164508.2(NEB):c.3987+11A>T
|
rs116903097
|
0.00092
|
|
NM_018013.4(SOBP):c.1416C>A (p.Pro472=)
|
rs369211430
|
0.00092
|
|
NM_212482.4(FN1):c.1110G>A (p.Thr370=)
|
rs149123808
|
0.00092
|
|
NM_000435.3(NOTCH3):c.660C>T (p.Tyr220=)
|
rs114457076
|
0.00091
|
|
NM_001009944.3(PKD1):c.6665C>T (p.Ala2222Val)
|
rs148496347
|
0.00091
|
|
NM_001105206.3(LAMA4):c.514G>A (p.Gly172Ser)
|
rs147695488
|
0.00091
|
|
NM_001144967.3(NEDD4L):c.813+5G>A
|
rs199959002
|
0.00091
|
|
NM_001282225.2(ADA2):c.783C>T (p.Asp261=)
|
rs150249309
|
0.00091
|
|
NM_002067.5(GNA11):c.705C>T (p.Tyr235=)
|
rs138168314
|
0.00091
|
|
NM_003482.4(KMT2D):c.5874C>T (p.Arg1958=)
|
rs182887940
|
0.00091
|
|
NM_004048.4(B2M):c.67+19C>T
|
rs185185288
|
0.00091
|
|
NM_017534.6(MYH2):c.3432C>T (p.Asp1144=)
|
rs184725551
|
0.00091
|
|
NM_017649.5(CNNM2):c.2233+17C>T
|
rs201729946
|
0.00091
|
|
NM_017654.4(SAMD9):c.3008A>G (p.Asn1003Ser)
|
rs146087534
|
0.00091
|
|
NM_024514.5(CYP2R1):c.375C>T (p.Leu125=)
|
rs145794885
|
0.00091
|
|
NM_172107.4(KCNQ2):c.1887+17G>A
|
rs369457896
|
0.00091
|
|
NM_198569.3(ADGRG6):c.354A>G (p.Leu118=)
|
rs140723393
|
0.00091
|
|
NM_000041.4(APOE):c.651C>T (p.Ala217=)
|
rs72654468
|
0.00090
|
|
NM_000278.5(PAX2):c.819G>C (p.Leu273=)
|
rs144433354
|
0.00090
|
|
NM_000500.9(CYP21A2):c.803C>T (p.Pro268Leu)
|
rs61732108
|
0.00090
|
|
NM_000540.3(RYR1):c.7836-19C>T
|
rs201378267
|
0.00090
|
|
NM_001009944.3(PKD1):c.5811C>G (p.Ser1937=)
|
rs149623670
|
0.00090
|
|
NM_001458.5(FLNC):c.7185C>T (p.Ser2395=)
|
rs199880128
|
0.00090
|
|
NM_000138.5(FBN1):c.6987C>G (p.Asp2329Glu)
|
rs363831
|
0.00089
|
|
NM_000291.4(PGK1):c.909G>C (p.Val303=)
|
rs142525614
|
0.00089
|
|
NM_001148.6(ANK2):c.1863C>G (p.Ser621=)
|
rs146425138
|
0.00089
|
|
NM_001171.6(ABCC6):c.2306G>A (p.Arg769Lys)
|
rs57794451
|
0.00089
|
|
NM_001379081.2(FREM1):c.5049C>T (p.Asn1683=)
|
rs200063334
|
0.00089
|
|
NM_001395656.1(ROBO2):c.471C>T (p.Pro157=)
|
rs201406456
|
0.00089
|
|
NM_001844.5(COL2A1):c.2095-4G>A
|
rs111570218
|
0.00089
|
|
NM_001853.4(COL9A3):c.1918G>A (p.Glu640Lys)
|
rs553583384
|
0.00089
|
|
NM_020779.4(WDR35):c.2149A>G (p.Ile717Val)
|
rs144493712
|
0.00089
|
|
NM_133379.5(TTN):c.13045C>A (p.Pro4349Thr)
|
rs140064945
|
0.00089
|
|
NM_182961.4(SYNE1):c.24481A>C (p.Asn8161His)
|
rs36215251
|
0.00089
|
|
NM_000038.6(APC):c.6821C>T (p.Ala2274Val)
|
rs34919187
|
0.00088
|
|
NM_000540.3(RYR1):c.14130-9T>G
|
rs191894192
|
0.00088
|
|
NM_001394062.1(MACF1):c.13145A>G (p.Asn4382Ser)
|
rs148069432
|
0.00088
|
|
NM_001963.6(EGF):c.941-9C>A
|
rs147880662
|
0.00088
|
|
NM_002473.6(MYH9):c.5010G>A (p.Glu1670=)
|
rs76069100
|
0.00088
|
|
NM_003070.5(SMARCA2):c.4731T>C (p.Asp1577=)
|
rs143522467
|
0.00088
|
|
NM_004525.3(LRP2):c.1042+19C>T
|
rs183348926
|
0.00088
|
|
NM_006516.4(SLC2A1):c.680-12C>T
|
rs150960456
|
0.00088
|
|
NM_016335.6(PRODH):c.517+19C>T
|
rs370155847
|
0.00088
|
|
NM_020041.3(SLC2A9):c.1299C>T (p.Ile433=)
|
rs147534794
|
0.00088
|
|
NM_020639.3(RIPK4):c.303G>A (p.Thr101=)
|
rs2277792
|
0.00088
|
|
NM_030943.4(AMN):c.844-3C>T
|
rs145519816
|
0.00088
|
|
NM_000249.4(MLH1):c.1217G>A (p.Ser406Asn)
|
rs41294980
|
0.00087
|
|
NM_000529.2(MC2R):c.98C>T (p.Thr33Ile)
|
rs559032155
|
0.00087
|
|
NM_001083614.2(EARS2):c.670G>A (p.Gly224Ser)
|
rs141129877
|
0.00087
|
|
NM_001271696.3(ABCB7):c.1032+12A>G
|
rs148980611
|
0.00087
|
|
NM_001364905.1(LRBA):c.4339+18G>A
|
rs199713609
|
0.00087
|
|
NM_001376.5(DYNC1H1):c.10065T>C (p.Ser3355=)
|
rs80096622
|
0.00087
|
|
NM_003665.4(FCN3):c.498G>C (p.Glu166Asp)
|
rs56405086
|
0.00087
|
|
NM_004525.3(LRP2):c.2909-19C>T
|
rs144286272
|
0.00087
|
|
NM_178170.3(NEK8):c.1299+3G>T
|
rs201629139
|
0.00087
|
|
NM_000064.4(C3):c.1344C>T (p.Thr448=)
|
rs150934856
|
0.00086
|
|
NM_000064.4(C3):c.4172+19G>A
|
rs181489450
|
0.00086
|
|
NM_000133.4(F9):c.19A>T (p.Ile7Phe)
|
rs150190385
|
0.00086
|
|
NM_000264.5(PTCH1):c.4048C>T (p.Arg1350Trp)
|
rs140417636
|
0.00086
|
|
NM_001042413.2(GLIS3):c.2340G>A (p.Arg780=)
|
rs147473975
|
0.00086
|
|
NM_001042413.2(GLIS3):c.744A>G (p.Leu248=)
|
rs139080385
|
0.00086
|
|
NM_001171.6(ABCC6):c.1353C>T (p.Ser451=)
|
rs57546826
|
0.00086
|
|
NM_001267550.2(TTN):c.44784T>C (p.Asp14928=)
|
rs186105748
|
0.00086
|
|
NM_001371986.1(UNC80):c.2616G>A (p.Pro872=)
|
rs200238702
|
0.00086
|
|
NM_002473.6(MYH9):c.5049C>A (p.Ile1683=)
|
rs147419066
|
0.00086
|
|
NM_013336.4(SEC61A1):c.784C>A (p.Arg262=)
|
rs144643278
|
0.00086
|
|
NM_014000.3(VCL):c.1572C>T (p.Ala524=)
|
rs138566234
|
0.00086
|
|
NM_015662.3(IFT172):c.2787+6G>A
|
rs75805075
|
0.00086
|
|
NM_020041.3(SLC2A9):c.681+13C>T
|
rs202000076
|
0.00086
|
|
NM_022455.5(NSD1):c.2450C>T (p.Ser817Phe)
|
rs115722008
|
0.00086
|
|
NM_181486.4(TBX5):c.316A>G (p.Ile106Val)
|
rs147710408
|
0.00086
|
|
NM_183050.4(BCKDHB):c.633G>C (p.Lys211Asn)
|
rs143427811
|
0.00086
|
|
NM_198252.3(GSN):c.1637A>G (p.Lys546Arg)
|
rs184844415
|
0.00086
|
|
NM_206933.4(USH2A):c.6628C>G (p.Pro2210Ala)
|
rs192115090
|
0.00086
|
|
NM_000291.4(PGK1):c.390G>A (p.Gly130=)
|
rs146350576
|
0.00085
|
|
NM_001099922.3(ALG13):c.1591T>C (p.Leu531=)
|
rs112837367
|
0.00085
|
|
NM_001366110.1(PAX4):c.69T>C (p.Pro23=)
|
rs116124047
|
0.00085
|
|
NM_017534.6(MYH2):c.2106C>T (p.Asn702=)
|
rs145039915
|
0.00085
|
|
NM_000168.6(GLI3):c.501G>A (p.Thr167=)
|
rs149901929
|
0.00084
|
|
NM_000475.5(NR0B1):c.1410A>G (p.Ile470Met)
|
rs151317312
|
0.00084
|
|
NM_000548.5(TSC2):c.2838-4A>G
|
rs45517272
|
0.00084
|
|
NM_000748.3(CHRNB2):c.1432T>C (p.Phe478Leu)
|
rs79137415
|
0.00084
|
|
NM_001243133.2(NLRP3):c.2151-7T>C
|
rs116546330
|
0.00084
|
|
NM_003907.3(EIF2B5):c.1870-5C>A
|
rs144864475
|
0.00084
|
|
NM_004252.5(NHERF1):c.888+13T>C
|
rs200500451
|
0.00084
|
|
NM_005045.4(RELN):c.7111G>A (p.Ala2371Thr)
|
rs79377093
|
0.00084
|
|
NM_005633.4(SOS1):c.2238T>C (p.Asn746=)
|
rs75877625
|
0.00084
|
|
NM_006005.3(WFS1):c.2184C>T (p.Gly728=)
|
rs71530908
|
0.00084
|
|
NM_014317.5(PDSS1):c.1027-11T>C
|
rs142244210
|
0.00084
|
|
NM_014795.4(ZEB2):c.1161A>G (p.Leu387=)
|
rs146673563
|
0.00084
|
|
NM_020381.4(PDSS2):c.1009-14C>G
|
rs188095740
|
0.00084
|
|
NM_022042.4(SLC26A1):c.181C>T (p.Arg61Cys)
|
rs547128457
|
0.00084
|
|
NM_000548.5(TSC2):c.856A>G (p.Met286Val)
|
rs1800748
|
0.00083
|
|
NM_001101.5(ACTB):c.687G>A (p.Thr229=)
|
rs138499594
|
0.00083
|
|
NM_001123385.2(BCOR):c.2423T>A (p.Leu808His)
|
rs151125150
|
0.00083
|
|
NM_001267550.2(TTN):c.25223C>T (p.Thr8408Ile)
|
rs201432372
|
0.00083
|
|
NM_001382567.1(STIM1):c.387A>G (p.Val129=)
|
rs116855870
|
0.00083
|
|
NM_001830.4(CLCN4):c.2030C>T (p.Thr677Met)
|
rs41297324
|
0.00083
|
|
NM_002223.4(ITPR2):c.6551C>G (p.Thr2184Ser)
|
rs184496919
|
0.00083
|
|
NM_005802.5(TOPORS):c.2988C>T (p.Leu996=)
|
rs3814518
|
0.00083
|
|
NM_014317.5(PDSS1):c.411A>G (p.Arg137=)
|
rs114640034
|
0.00083
|
|
NM_021098.3(CACNA1H):c.2451+20C>T
|
rs144765479
|
0.00083
|
|
NM_144639.3(UROC1):c.59G>A (p.Arg20Gln)
|
rs184621973
|
0.00083
|
|
NM_173689.7(CRB2):c.516C>T (p.Cys172=)
|
rs146687164
|
0.00083
|
|
NM_175875.5(SIX5):c.549G>A (p.Val183=)
|
rs143904307
|
0.00083
|
|
NM_000257.4(MYH7):c.1395C>T (p.Phe465=)
|
rs45508293
|
0.00082
|
|
NM_000444.6(PHEX):c.81C>T (p.Val27=)
|
rs139862893
|
0.00082
|
|
NM_001174096.2(ZEB1):c.699G>A (p.Thr233=)
|
rs149166539
|
0.00082
|
|
NM_001287.6(CLCN7):c.141+19C>G
|
rs547168471
|
0.00082
|
|
NM_001735.3(C5):c.306G>A (p.Val102=)
|
rs151322743
|
0.00082
|
|
NM_005373.3(MPL):c.1120A>G (p.Thr374Ala)
|
rs190983971
|
0.00082
|
|
NM_005633.4(SOS1):c.73C>T (p.Pro25Ser)
|
rs139592595
|
0.00082
|
|
NM_012203.2(GRHPR):c.234C>T (p.Ile78=)
|
rs143337459
|
0.00082
|
|
NM_032119.4(ADGRV1):c.16841C>T (p.Thr5614Ile)
|
rs149544995
|
0.00082
|
|
NM_207361.6(FREM2):c.8100T>G (p.Leu2700=)
|
rs141834289
|
0.00082
|
|
NM_000214.3(JAG1):c.439+10G>A
|
rs201371037
|
0.00081
|
|
NM_000316.3(PTH1R):c.75+12G>A
|
rs200603325
|
0.00081
|
|
NM_000545.8(HNF1A):c.1323G>A (p.Thr441=)
|
rs138996307
|
0.00081
|
|
NM_001164508.2(NEB):c.9052G>A (p.Asp3018Asn)
|
rs192098032
|
0.00081
|
|
NM_001348484.3(RIMS2):c.2309+9G>T
|
rs117733379
|
0.00081
|
|
NM_001379500.1(COL18A1):c.1702-20G>A
|
rs374576102
|
0.00081
|
|
NM_001735.3(C5):c.450C>T (p.Asp150=)
|
rs141829974
|
0.00081
|
|
NM_003922.4(HERC1):c.6195A>G (p.Thr2065=)
|
rs182614197
|
0.00081
|
|
NM_007214.5(SEC63):c.340-7T>C
|
rs1569557
|
0.00081
|
|
NM_014444.5(TUBGCP4):c.1781C>T (p.Ser594Leu)
|
rs149549954
|
0.00081
|
|
NM_015158.5(KANK1):c.1491G>A (p.Ser497=)
|
rs114649126
|
0.00081
|
|
NM_018082.6(POLR3B):c.773A>C (p.Glu258Ala)
|
rs117911920
|
0.00081
|
|
NM_018417.6(ADCY10):c.1902G>A (p.Val634=)
|
rs146639825
|
0.00081
|
|
NM_198428.3(BBS9):c.2086G>A (p.Asp696Asn)
|
rs117543061
|
0.00081
|
|
NM_201384.3(PLEC):c.6311C>T (p.Ala2104Val)
|
rs201959200
|
0.00081
|
|
NM_000603.5(NOS3):c.465C>G (p.Ala155=)
|
rs200774720
|
0.00080
|
|
NM_001046.3(SLC12A2):c.2748A>T (p.Gly916=)
|
rs141683516
|
0.00080
|
|
NM_001081.4(CUBN):c.5733+16C>T
|
rs139579256
|
0.00080
|
|
NM_001101.5(ACTB):c.762G>C (p.Arg254=)
|
rs145818896
|
0.00080
|
|
NM_001366110.1(PAX4):c.144+16C>T
|
rs138902071
|
0.00080
|
|
NM_017617.5(NOTCH1):c.1440C>T (p.Pro480=)
|
rs61751555
|
0.00080
|
|
NM_212482.4(FN1):c.1626C>T (p.Asn542=)
|
rs138144264
|
0.00080
|
|
NM_000238.4(KCNH2):c.2617G>A (p.Gly873Ser)
|
rs41314354
|
0.00079
|
|
NM_000497.4(CYP11B1):c.459T>C (p.Ala153=)
|
rs61751150
|
0.00079
|
|
NM_001414.4(EIF2B1):c.429G>A (p.Ala143=)
|
rs148714712
|
0.00079
|
|
NM_001807.6(CEL):c.1689A>G (p.Thr563=)
|
rs199941432
|
0.00079
|
|
NM_001807.6(CEL):c.1692G>T (p.Gly564=)
|
rs200716123
|
0.00079
|
|
NM_002334.4(LRP4):c.4951+13G>C
|
rs367744491
|
0.00079
|
|
NM_005751.5(AKAP9):c.6508-20A>T
|
rs374874284
|
0.00079
|
|
NM_015158.5(KANK1):c.3618C>T (p.Ala1206=)
|
rs367704087
|
0.00079
|
|
NM_000210.4(ITGA6):c.2161-17G>A
|
rs377682187
|
0.00078
|
|
NM_000890.5(KCNJ5):c.1149C>T (p.Pro383=)
|
rs143219149
|
0.00078
|
|
NM_001292063.2(OTOG):c.6827C>T (p.Thr2276Ile)
|
rs569603083
|
0.00078
|
|
NM_002335.4(LRP5):c.4112-14T>C
|
rs200717286
|
0.00078
|
|
NM_002473.6(MYH9):c.1843+14C>A
|
rs372865551
|
0.00078
|
|
NM_006005.3(WFS1):c.1143G>A (p.Leu381=)
|
rs151153967
|
0.00078
|
|
NM_014967.5(FAN1):c.2118A>C (p.Arg706=)
|
rs141559766
|
0.00078
|
|
NM_015662.3(IFT172):c.3186G>A (p.Val1062=)
|
rs143922405
|
0.00078
|
|
NM_017654.4(SAMD9):c.1860A>G (p.Lys620=)
|
rs77922936
|
0.00078
|
|
NM_017780.4(CHD7):c.7165-5A>G
|
rs376076407
|
0.00078
|
|
NM_020207.7(ERCC6L2):c.3480T>C (p.Val1160=)
|
rs150957564
|
0.00078
|
|
NM_021922.3(FANCE):c.522G>A (p.Gly174=)
|
rs145648734
|
0.00078
|
|
NM_022124.6(CDH23):c.2263C>T (p.His755Tyr)
|
rs181255269
|
0.00078
|
|
NM_053025.4(MYLK):c.373+18C>T
|
rs140559450
|
0.00078
|
|
NM_000249.4(MLH1):c.1151T>A (p.Val384Asp)
|
rs63750447
|
0.00077
|
|
NM_001289104.2(PRKCSH):c.834C>T (p.Asp278=)
|
rs139969239
|
0.00077
|
|
NM_002334.4(LRP4):c.1005C>T (p.Asn335=)
|
rs141757569
|
0.00077
|
|
NM_003042.4(SLC6A1):c.953+19G>A
|
rs113968319
|
0.00077
|
|
NM_004415.4(DSP):c.8605A>G (p.Ile2869Val)
|
rs28763971
|
0.00077
|
|
NM_006734.4(HIVEP2):c.2367A>G (p.Leu789=)
|
rs201358604
|
0.00077
|
|
NM_021098.3(CACNA1H):c.3744+17G>A
|
rs187187164
|
0.00077
|
|
NM_032387.5(WNK4):c.2157+6G>C
|
rs61755607
|
0.00077
|
|
NM_173551.5(ANKS6):c.1782C>T (p.Ala594=)
|
rs78732864
|
0.00077
|
|
NM_212482.4(FN1):c.1547-6A>G
|
rs3213885
|
0.00077
|
|
NM_000053.4(ATP7B):c.3624G>A (p.Thr1208=)
|
rs377267217
|
0.00076
|
|
NM_000292.3(PHKA2):c.3243C>T (p.Pro1081=)
|
rs150764699
|
0.00076
|
|
NM_000545.8(HNF1A):c.92G>A (p.Gly31Asp)
|
rs137853247
|
0.00076
|
|
NM_001009944.3(PKD1):c.11965G>A (p.Gly3989Ser)
|
rs200279710
|
0.00076
|
|
NM_001220.5(CAMK2B):c.1059+15G>A
|
rs200508041
|
0.00076
|
|
NM_001358921.2(COQ2):c.651G>A (p.Ala217=)
|
rs199581249
|
0.00076
|
|
NM_001845.6(COL4A1):c.2392G>C (p.Val798Leu)
|
rs146950993
|
0.00076
|
|
NM_001999.4(FBN2):c.4647C>T (p.Asn1549=)
|
rs146662880
|
0.00076
|
|
NM_002334.4(LRP4):c.387C>T (p.Cys129=)
|
rs80333596
|
0.00076
|
|
NM_002742.3(PRKD1):c.1441G>A (p.Ala481Thr)
|
rs151073459
|
0.00076
|
|
NM_003482.4(KMT2D):c.3572C>T (p.Pro1191Leu)
|
rs112236653
|
0.00076
|
|
NM_004132.5(HABP2):c.947G>A (p.Gly316Glu)
|
rs138864377
|
0.00076
|
|
NM_015338.6(ASXL1):c.2059T>C (p.Cys687Arg)
|
rs140197482
|
0.00076
|
|
NM_015662.3(IFT172):c.5161-20G>A
|
rs372154058
|
0.00076
|
|
NM_017780.4(CHD7):c.3202-5T>C
|
rs147994149
|
0.00076
|
|
NM_017947.4(MOCOS):c.1908G>A (p.Leu636=)
|
rs147207715
|
0.00076
|
|
NM_144991.3(TSPEAR):c.1515G>A (p.Ser505=)
|
rs150444121
|
0.00076
|
|
NM_170707.4(LMNA):c.1489-16C>G
|
rs201379016
|
0.00076
|
|
NM_000069.3(CACNA1S):c.4338+13G>T
|
rs370782181
|
0.00075
|
|
NM_001009944.3(PKD1):c.11376G>C (p.Ser3792=)
|
rs201509188
|
0.00075
|
|
NM_001081.4(CUBN):c.2110+18T>C
|
rs117028815
|
0.00075
|
|
NM_002204.4(ITGA3):c.2184C>T (p.His728=)
|
rs146262123
|
0.00075
|
|
NM_003242.6(TGFBR2):c.1458C>T (p.Ser486=)
|
rs139881155
|
0.00075
|
|
NM_003482.4(KMT2D):c.1120C>A (p.Pro374Thr)
|
rs202013880
|
0.00075
|
|
NM_004722.4(AP4M1):c.740G>C (p.Gly247Ala)
|
rs145887263
|
0.00075
|
|
NM_013328.4(PYCR2):c.924C>G (p.Leu308=)
|
rs181648767
|
0.00075
|
|
NM_014000.3(VCL):c.1348A>C (p.Arg450=)
|
rs142128712
|
0.00075
|
|
NM_014714.4(IFT140):c.3900C>T (p.Tyr1300=)
|
rs148387007
|
0.00075
|
|
NM_000059.4(BRCA2):c.1151C>T (p.Ser384Phe)
|
rs41293475
|
0.00074
|
|
NM_000718.4(CACNA1B):c.2886C>A (p.Pro962=)
|
rs374275536
|
0.00074
|
|
NM_001005498.4(RHBDF2):c.272+10C>T
|
rs374497069
|
0.00074
|
|
NM_001151.4(SLC25A4):c.252C>T (p.Thr84=)
|
rs145413043
|
0.00074
|
|
NM_001759.4(CCND2):c.756G>A (p.Ala252=)
|
rs145050894
|
0.00074
|
|
NM_002230.4(JUP):c.2059A>G (p.Ile687Val)
|
rs138366708
|
0.00074
|
|
NM_003049.4(SLC10A1):c.263T>C (p.Ile88Thr)
|
rs148467625
|
0.00074
|
|
NM_006662.3(SRCAP):c.8982C>G (p.Thr2994=)
|
rs150765091
|
0.00074
|
|
NM_032119.4(ADGRV1):c.6086C>T (p.Pro2029Leu)
|
rs200854813
|
0.00074
|
|
NM_170784.3(MKKS):c.15A>G (p.Glu5=)
|
rs145396188
|
0.00074
|
|
NM_000069.3(CACNA1S):c.3425A>C (p.Gln1142Pro)
|
rs139373152
|
0.00073
|
|
NM_000085.5(CLCNKB):c.1227+11T>C
|
rs201479763
|
0.00073
|
|
NM_001003841.3(SLC6A19):c.1044C>T (p.Phe348=)
|
rs139103369
|
0.00073
|
|
NM_001003841.3(SLC6A19):c.558C>T (p.Ser186=)
|
rs140343487
|
0.00073
|
|
NM_001009944.3(PKD1):c.1533C>T (p.Leu511=)
|
rs570750726
|
0.00073
|
|
NM_001009944.3(PKD1):c.9640C>T (p.Leu3214=)
|
rs12102740
|
0.00073
|
|
NM_001171.6(ABCC6):c.1636-20G>A
|
rs200894424
|
0.00073
|
|
NM_001372066.1(TFAP2A):c.579C>T (p.Ser193=)
|
rs143363077
|
0.00073
|
|
NM_001715.3(BLK):c.1338C>G (p.Arg446=)
|
rs377160616
|
0.00073
|
|
NM_001807.6(CEL):c.1335C>T (p.Pro445=)
|
rs371892814
|
0.00073
|
|
NM_001844.5(COL2A1):c.1913C>T (p.Thr638Ile)
|
rs41263847
|
0.00073
|
|
NM_004525.3(LRP2):c.3311A>G (p.His1104Arg)
|
rs144906000
|
0.00073
|
|
NM_012082.4(ZFPM2):c.2963A>C (p.Lys988Thr)
|
rs139881948
|
0.00073
|
|
NM_015158.5(KANK1):c.2544G>C (p.Leu848=)
|
rs138739899
|
0.00073
|
|
NM_021098.3(CACNA1H):c.3261C>A (p.Thr1087=)
|
rs57606792
|
0.00073
|
|
NM_021098.3(CACNA1H):c.804-8A>G
|
rs367708036
|
0.00073
|
|
NM_030632.3(ASXL3):c.6603C>T (p.Ala2201=)
|
rs3809986
|
0.00073
|
|
NM_182961.4(SYNE1):c.14163C>T (p.Asp4721=)
|
rs3734366
|
0.00073
|
|
NM_000085.5(CLCNKB):c.1971T>C (p.Phe657=)
|
rs79198735
|
0.00072
|
|
NM_001002295.2(GATA3):c.1050+19G>A
|
rs150545188
|
0.00072
|
|
NM_001122681.2(SH3BP2):c.1686A>G (p.Ter562Trp)
|
rs190648042
|
0.00072
|
|
NM_001365276.2(TNXB):c.10713C>T (p.Ser3571=)
|
rs758424441
|
0.00072
|
|
NM_001378964.1(CDON):c.350-11A>G
|
rs199981607
|
0.00072
|
|
NM_004393.6(DAG1):c.331G>A (p.Asp111Asn)
|
rs117209107
|
0.00072
|
|
NM_005881.4(BCKDK):c.717-15C>T
|
rs201213741
|
0.00072
|
|
NM_014365.3(HSPB8):c.499G>A (p.Glu167Lys)
|
rs148514935
|
0.00072
|
|
NM_016592.5(GNAS):c.537G>A (p.Pro179=)
|
rs181594534
|
0.00072
|
|
NM_021098.3(CACNA1H):c.3614G>A (p.Arg1205Gln)
|
rs58594334
|
0.00072
|
|
NM_021098.3(CACNA1H):c.4584C>T (p.Asn1528=)
|
rs200542719
|
0.00072
|
|
NM_032856.5(WDR73):c.883+8C>T
|
rs200133030
|
0.00072
|
|
NM_000335.5(SCN5A):c.3266C>T (p.Pro1089Leu)
|
rs1805125
|
0.00071
|
|
NM_000702.4(ATP1A2):c.340G>A (p.Gly114Ser)
|
rs116711766
|
0.00071
|
|
NM_001035.3(RYR2):c.3030T>C (p.Asp1010=)
|
rs138064129
|
0.00071
|
|
NM_004998.4(MYO1E):c.511-17C>T
|
rs118012522
|
0.00071
|
|
NM_005045.4(RELN):c.8944G>A (p.Asp2982Asn)
|
rs148509350
|
0.00071
|
|
NM_007214.5(SEC63):c.1441-4C>G
|
rs200112157
|
0.00071
|
|
NM_012120.3(CD2AP):c.1530+20G>A
|
rs185360746
|
0.00071
|
|
NM_017909.4(RMND1):c.1167G>A (p.Thr389=)
|
rs116201484
|
0.00071
|
|
NM_033026.6(PCLO):c.13495A>G (p.Ile4499Val)
|
rs182078347
|
0.00071
|
|
NM_173353.4(TPH2):c.122C>A (p.Ser41Tyr)
|
rs78162420
|
0.00071
|
|
NM_206933.4(USH2A):c.1966G>A (p.Asp656Asn)
|
rs146824138
|
0.00071
|
|
NM_000091.5(COL4A3):c.274G>C (p.Val92Leu)
|
rs200873401
|
0.00070
|
|
NM_000368.5(TSC1):c.1526G>A (p.Arg509Gln)
|
rs118203543
|
0.00070
|
|
NM_000368.5(TSC1):c.273G>A (p.Ser91=)
|
rs115097221
|
0.00070
|
|
NM_000451.4(SHOX):c.634-14G>T
|
rs759067813
|
0.00070
|
|
NM_001018115.3(FANCD2):c.577A>G (p.Thr193Ala)
|
rs34936017
|
0.00070
|
|
NM_001041.4(SI):c.876C>T (p.Phe292=)
|
rs139642816
|
0.00070
|
|
NM_001148.6(ANK2):c.11493G>T (p.Glu3831Asp)
|
rs144046572
|
0.00070
|
|
NM_001429.4(EP300):c.1519A>G (p.Ser507Gly)
|
rs146242251
|
0.00070
|
|
NM_004380.3(CREBBP):c.3698+7G>A
|
rs374345970
|
0.00070
|
|
NM_015443.4(KANSL1):c.1938C>T (p.Pro646=)
|
rs371047711
|
0.00070
|
|
NM_020247.5(COQ8A):c.1797C>T (p.Leu599=)
|
rs139551241
|
0.00070
|
|
NM_020632.3(ATP6V0A4):c.1806C>T (p.Asp602=)
|
rs141568521
|
0.00070
|
|
NM_025074.7(FRAS1):c.10390-18A>T
|
rs146407399
|
0.00070
|
|
NM_025074.7(FRAS1):c.8574G>A (p.Lys2858=)
|
rs201745281
|
0.00070
|
|
NM_000059.4(BRCA2):c.5198C>T (p.Ser1733Phe)
|
rs55639415
|
0.00069
|
|
NM_000214.3(JAG1):c.2231G>A (p.Arg744Gln)
|
rs147809756
|
0.00069
|
|
NM_000379.4(XDH):c.101-7C>T
|
rs113007282
|
0.00069
|
|
NM_001735.3(C5):c.267A>C (p.Pro89=)
|
rs758128814
|
0.00069
|
|
NM_003661.4(APOL1):c.318T>C (p.Asn106=)
|
rs141898256
|
0.00069
|
|
NM_004484.4(GPC3):c.1032+9C>T
|
rs200782847
|
0.00069
|
|
NM_005378.6(MYCN):c.429C>T (p.Ala143=)
|
rs532543210
|
0.00069
|
|
NM_012431.3(SEMA3E):c.738C>A (p.Phe246Leu)
|
rs192697566
|
0.00069
|
|
NM_022455.5(NSD1):c.1980C>T (p.Asn660=)
|
rs140072393
|
0.00069
|
|
NM_033453.4(ITPA):c.124C>T (p.Leu42=)
|
rs142574480
|
0.00069
|
|
NM_000064.4(C3):c.876+19G>A
|
rs11569574
|
0.00068
|
|
NM_000091.5(COL4A3):c.888+17G>A
|
rs199840268
|
0.00068
|
|
NM_000213.5(ITGB4):c.5091C>T (p.Pro1697=)
|
rs150804109
|
0.00068
|
|
NM_000260.4(MYO7A):c.2283-20C>T
|
rs371838579
|
0.00068
|
|
NM_000379.4(XDH):c.883G>A (p.Asp295Asn)
|
rs142335345
|
0.00068
|
|
NM_001009944.3(PKD1):c.10080C>T (p.Ala3360=)
|
rs149924232
|
0.00068
|
|
NM_001009944.3(PKD1):c.12768C>T (p.Ala4256=)
|
rs373854628
|
0.00068
|
|
NM_001046.3(SLC12A2):c.261C>T (p.Ser87=)
|
rs543480974
|
0.00068
|
|
NM_001103.4(ACTN2):c.877-6G>A
|
rs397516585
|
0.00068
|
|
NM_001904.4(CTNNB1):c.1683+17A>G
|
rs2276826
|
0.00068
|
|
NM_002764.4(PRPS1):c.447G>A (p.Pro149=)
|
rs80338730
|
0.00068
|
|
NM_014956.5(CEP164):c.3717G>A (p.Pro1239=)
|
rs149567170
|
0.00068
|
|
NM_017662.5(TRPM6):c.5424T>C (p.Pro1808=)
|
rs140812450
|
0.00068
|
|
NM_020822.3(KCNT1):c.3503-18C>T
|
rs373901872
|
0.00068
|
|
NM_021098.3(CACNA1H):c.2310C>T (p.Gly770=)
|
rs371026871
|
0.00068
|
|
NM_021098.3(CACNA1H):c.3792G>T (p.Gln1264His)
|
rs200228767
|
0.00068
|
|
NM_000179.3(MSH6):c.1526T>C (p.Val509Ala)
|
rs63751005
|
0.00067
|
|
NM_001008388.5(CISD2):c.104-9C>A
|
rs190212874
|
0.00067
|
|
NM_001018115.3(FANCD2):c.2269+12A>G
|
rs34751191
|
0.00067
|
|
NM_001148.6(ANK2):c.11459G>A (p.Arg3820Gln)
|
rs138085317
|
0.00067
|
|
NM_001372066.1(TFAP2A):c.426C>T (p.Leu142=)
|
rs369051842
|
0.00067
|
|
NM_001605.3(AARS1):c.1044G>C (p.Thr348=)
|
rs181264712
|
0.00067
|
|
NM_002661.5(PLCG2):c.3112C>T (p.Leu1038=)
|
rs200813182
|
0.00067
|
|
NM_006662.3(SRCAP):c.1134+6G>C
|
rs143387966
|
0.00067
|
|
NM_017662.5(TRPM6):c.2811G>A (p.Ala937=)
|
rs145231172
|
0.00067
|
|
NM_021098.3(CACNA1H):c.1425C>T (p.Ser475=)
|
rs60537026
|
0.00067
|
|
NM_024411.5(PDYN):c.106G>T (p.Gly36Cys)
|
rs149056587
|
0.00067
|
|
NM_033124.5(CCDC65):c.456G>A (p.Glu152=)
|
rs145100370
|
0.00067
|
|
NM_000168.6(GLI3):c.1647+13G>A
|
rs149955824
|
0.00066
|
|
NM_001015880.2(PAPSS2):c.267C>T (p.Leu89=)
|
rs144784084
|
0.00066
|
|
NM_001046.3(SLC12A2):c.3100+13A>T
|
rs199929591
|
0.00066
|
|
NM_001082538.3(TCTN1):c.488C>A (p.Ser163Tyr)
|
rs117896500
|
0.00066
|
|
NM_001130823.3(DNMT1):c.731G>A (p.Gly244Glu)
|
rs150999369
|
0.00066
|
|
NM_001277115.2(DNAH11):c.2542G>A (p.Val848Met)
|
rs80328282
|
0.00066
|
|
NM_001289104.2(PRKCSH):c.1092G>A (p.Pro364=)
|
rs142347308
|
0.00066
|
|
NM_002473.6(MYH9):c.5877C>T (p.Ala1959=)
|
rs144179406
|
0.00066
|
|
NM_003239.5(TGFB3):c.179C>T (p.Thr60Met)
|
rs4252315
|
0.00066
|
|
NM_003661.4(APOL1):c.1116G>A (p.Lys372=)
|
rs201657348
|
0.00066
|
|
NM_004333.6(BRAF):c.981-20C>T
|
rs374896031
|
0.00066
|
|
NM_004408.4(DNM1):c.332C>G (p.Thr111Ser)
|
rs192913494
|
0.00066
|
|
NM_004924.6(ACTN4):c.2400C>T (p.Asp800=)
|
rs138139611
|
0.00066
|
|
NM_007294.4(BRCA1):c.1427A>G (p.His476Arg)
|
rs55720177
|
0.00066
|
|
NM_019112.4(ABCA7):c.4886C>T (p.Ser1629Leu)
|
rs184590335
|
0.00066
|
|
NM_021098.3(CACNA1H):c.6048+18C>A
|
rs72552057
|
0.00066
|
|
NM_022098.4(XPNPEP3):c.970-9T>C
|
rs117568682
|
0.00066
|
|
NM_024408.4(NOTCH2):c.2752+17G>C
|
rs370708756
|
0.00066
|
|
NM_025074.7(FRAS1):c.9317-4G>A
|
rs142971896
|
0.00066
|
|
NM_025132.4(WDR19):c.2363+7C>T
|
rs190180293
|
0.00066
|
|
NM_033056.4(PCDH15):c.4812G>T (p.Arg1604Ser)
|
rs148718874
|
0.00066
|
|
NM_198334.3(GANAB):c.1386+18C>T
|
rs79188721
|
0.00066
|
|
NM_000498.3(CYP11B2):c.414C>T (p.Arg138=)
|
rs369108075
|
0.00065
|
|
NM_000548.5(TSC2):c.2742+13C>T
|
rs45517260
|
0.00065
|
|
NM_000628.5(IL10RB):c.646+19C>A
|
rs75303005
|
0.00065
|
|
NM_000782.5(CYP24A1):c.616G>A (p.Glu206Lys)
|
rs115260488
|
0.00065
|
|
NM_001099922.3(ALG13):c.3093A>G (p.Gln1031=)
|
rs372260338
|
0.00065
|
|
NM_001101.5(ACTB):c.1107C>T (p.Ile369=)
|
rs71531321
|
0.00065
|
|
NM_001267550.2(TTN):c.40927+16C>T
|
rs369965589
|
0.00065
|
|
NM_003036.4(SKI):c.1593T>C (p.Pro531=)
|
rs144279718
|
0.00065
|
|
NM_007294.4(BRCA1):c.3024G>A (p.Met1008Ile)
|
rs1800704
|
0.00065
|
|
NM_021098.3(CACNA1H):c.918C>T (p.Pro306=)
|
rs57468015
|
0.00065
|
|
NM_173551.5(ANKS6):c.2409G>A (p.Ala803=)
|
rs373756771
|
0.00065
|
|
NM_000085.5(CLCNKB):c.1930-6A>G
|
rs72474563
|
0.00064
|
|
NM_000216.4(ANOS1):c.264G>A (p.Glu88=)
|
rs41304727
|
0.00064
|
|
NM_000551.4(VHL):c.340+578C>T
|
rs139622356
|
0.00064
|
|
NM_001041.4(SI):c.4541-18T>G
|
rs111418304
|
0.00064
|
|
NM_001379081.2(FREM1):c.4867T>C (p.Leu1623=)
|
rs369101934
|
0.00064
|
|
NM_004380.3(CREBBP):c.4494A>G (p.Arg1498=)
|
rs149560660
|
0.00064
|
|
NM_015178.3(RHOBTB2):c.2129C>T (p.Pro710Leu)
|
rs146723409
|
0.00064
|
|
NM_138409.4(MRAP2):c.374G>A (p.Arg125His)
|
rs115655382
|
0.00064
|
|
NM_138775.3(ALKBH8):c.1820C>G (p.Pro607Arg)
|
rs150879765
|
0.00064
|
|
NM_000342.4(SLC4A1):c.2482-7C>T
|
rs371728036
|
0.00063
|
|
NM_000447.3(PSEN2):c.162G>C (p.Glu54Asp)
|
rs146894466
|
0.00063
|
|
NM_001127217.3(SMAD9):c.828C>T (p.Val276=)
|
rs142675092
|
0.00063
|
|
NM_001382430.1(AKT1):c.1032C>T (p.Cys344=)
|
rs56289559
|
0.00063
|
|
NM_001395656.1(ROBO2):c.4323C>T (p.Thr1441=)
|
rs201527229
|
0.00063
|
|
NM_004380.3(CREBBP):c.4133+9G>A
|
rs376602227
|
0.00063
|
|
NM_004525.3(LRP2):c.7926T>G (p.Thr2642=)
|
rs138903794
|
0.00063
|
|
NM_006012.4(CLPP):c.555+16G>A
|
rs74894429
|
0.00063
|
|
NM_012144.4(DNAI1):c.1878G>A (p.Ala626=)
|
rs146244319
|
0.00063
|
|
NM_015158.5(KANK1):c.453C>T (p.Asn151=)
|
rs139301285
|
0.00063
|
|
NM_021098.3(CACNA1H):c.3645C>T (p.Arg1215=)
|
rs371762447
|
0.00063
|
|
NM_021098.3(CACNA1H):c.5808C>T (p.Pro1936=)
|
rs374421144
|
0.00063
|
|
NM_021828.5(HPSE2):c.1154C>T (p.Thr385Ile)
|
rs200583760
|
0.00063
|
|
NM_024408.4(NOTCH2):c.2981+11A>G
|
rs148899572
|
0.00063
|
|
NM_025074.7(FRAS1):c.5010A>G (p.Leu1670=)
|
rs187816883
|
0.00063
|
|
NM_030665.4(RAI1):c.3650G>A (p.Arg1217Gln)
|
rs142415050
|
0.00063
|
|
NM_212482.4(FN1):c.1023C>T (p.Ser341=)
|
rs138120768
|
0.00063
|
|
NM_000093.5(COL5A1):c.2031G>A (p.Glu677=)
|
rs61737719
|
0.00062
|
|
NM_000782.5(CYP24A1):c.378G>A (p.Pro126=)
|
rs116104487
|
0.00062
|
|
NM_001142800.2(EYS):c.3444-15del
|
rs546966286
|
0.00062
|
|
NM_004006.3(DMD):c.1028G>A (p.Arg343His)
|
rs61733589
|
0.00062
|
|
NM_004525.3(LRP2):c.891T>C (p.Asp297=)
|
rs112343092
|
0.00062
|
|
NM_015160.3(PMPCA):c.633+17G>A
|
rs142661443
|
0.00062
|
|
NM_015713.5(RRM2B):c.551-18C>T
|
rs72554100
|
0.00062
|
|
NM_017947.4(MOCOS):c.447C>T (p.Thr149=)
|
rs142201209
|
0.00062
|
|
NM_024740.2(ALG9):c.945T>C (p.Asn315=)
|
rs185555263
|
0.00062
|
|
NM_078480.3(PUF60):c.1254G>A (p.Glu418=)
|
rs117178721
|
0.00062
|
|
NM_173854.6(SLC41A1):c.993-4A>G
|
rs370322036
|
0.00062
|
|
NM_175914.5(HNF4A):c.1032T>A (p.Ile344=)
|
rs145880201
|
0.00062
|
|
NM_000054.7(AVPR2):c.117G>A (p.Ala39=)
|
rs374487946
|
0.00061
|
|
NM_000085.5(CLCNKB):c.968+9C>T
|
rs200650615
|
0.00061
|
|
NM_000176.3(NR3C1):c.1242A>G (p.Thr414=)
|
rs67902340
|
0.00061
|
|
NM_000176.3(NR3C1):c.2250C>T (p.Pro750=)
|
rs67300719
|
0.00061
|
|
NM_000213.5(ITGB4):c.2963-13G>A
|
rs77473568
|
0.00061
|
|
NM_000255.4(MMUT):c.1444+13G>A
|
rs374285380
|
0.00061
|
|
NM_000875.5(IGF1R):c.2202-16T>G
|
rs187330252
|
0.00061
|
|
NM_001009944.3(PKD1):c.3444G>A (p.Pro1148=)
|
rs117955701
|
0.00061
|
|
NM_001126108.2(SLC12A3):c.2285+8G>A
|
rs199854613
|
0.00061
|
|
NM_001130823.3(DNMT1):c.4656+9G>A
|
rs367724672
|
0.00061
|
|
NM_001355436.2(SPTB):c.4474-17C>T
|
rs192115079
|
0.00061
|
|
NM_001368067.1(LDB3):c.780C>T (p.Asn260=)
|
rs372789789
|
0.00061
|
|
NM_001379286.1(ZNF423):c.1677G>A (p.Pro559=)
|
rs142344079
|
0.00061
|
|
NM_001963.6(EGF):c.891A>C (p.Val297=)
|
rs146585233
|
0.00061
|
|
NM_002204.4(ITGA3):c.759G>A (p.Thr253=)
|
rs138622747
|
0.00061
|
|
NM_002335.4(LRP5):c.4348+3A>G
|
rs61375162
|
0.00061
|
|
NM_002473.6(MYH9):c.4344+10C>T
|
rs200977419
|
0.00061
|
|
NM_002890.3(RASA1):c.360C>A (p.Pro120=)
|
rs137878395
|
0.00061
|
|
NM_003332.4(TYROBP):c.68G>A (p.Arg23His)
|
rs79272253
|
0.00061
|
|
NM_003590.5(CUL3):c.883+13G>C
|
rs147823056
|
0.00061
|
|
NM_003661.4(APOL1):c.1182G>A (p.Ala394=)
|
rs185040686
|
0.00061
|
|
NM_005751.5(AKAP9):c.5246T>C (p.Ile1749Thr)
|
rs150016098
|
0.00061
|
|
NM_006267.5(RANBP2):c.7499C>T (p.Thr2500Ile)
|
rs140280672
|
0.00061
|
|
NM_014956.5(CEP164):c.2362-15C>T
|
rs201819583
|
0.00061
|
|
NM_015158.5(KANK1):c.3245+9C>T
|
rs144003040
|
0.00061
|
|
NM_020632.3(ATP6V0A4):c.2011-8G>A
|
rs183571925
|
0.00061
|
|
NM_022455.5(NSD1):c.480C>T (p.Asp160=)
|
rs79427433
|
0.00061
|
|
NM_032387.5(WNK4):c.2207G>A (p.Arg736Gln)
|
rs149389156
|
0.00061
|
|
NM_033380.3(COL4A5):c.2147-12A>G
|
rs749368555
|
0.00061
|
|
NM_152296.5(ATP1A3):c.192G>A (p.Arg64=)
|
rs146053862
|
0.00061
|
|
NM_173653.4(SLC9A9):c.1486G>A (p.Asp496Asn)
|
rs111291437
|
0.00061
|
|
NM_206933.4(USH2A):c.6924A>G (p.Ala2308=)
|
rs148504065
|
0.00061
|
|
NM_000187.4(HGD):c.1128C>G (p.Asp376Glu)
|
rs150145204
|
0.00060
|
|
NM_001099922.3(ALG13):c.1843C>T (p.Leu615=)
|
rs374231091
|
0.00060
|
|
NM_001735.3(C5):c.3230+17G>C
|
rs374404058
|
0.00060
|
|
NM_002334.4(LRP4):c.3390G>A (p.Ala1130=)
|
rs144639401
|
0.00060
|
|
NM_004795.4(KL):c.537G>C (p.Arg179=)
|
rs769292412
|
0.00060
|
|
NM_006949.4(STXBP2):c.165C>T (p.Ile55=)
|
rs11538945
|
0.00060
|
|
NM_024675.4(PALB2):c.2996+17T>C
|
rs180177128
|
0.00060
|
|
NM_000069.3(CACNA1S):c.1948+10C>G
|
rs201173419
|
0.00059
|
|
NM_000179.3(MSH6):c.1508C>G (p.Ser503Cys)
|
rs63750897
|
0.00059
|
|
NM_001009944.3(PKD1):c.8111C>T (p.Ala2704Val)
|
rs200509641
|
0.00059
|
|
NM_001035.3(RYR2):c.11092-10A>T
|
rs577119352
|
0.00059
|
|
NM_001042413.2(GLIS3):c.1260C>T (p.Pro420=)
|
rs377419083
|
0.00059
|
|
NM_001081.4(CUBN):c.8410+18T>C
|
rs186604664
|
0.00059
|
|
NM_001267550.2(TTN):c.78147A>G (p.Gln26049=)
|
rs149127072
|
0.00059
|
|
NM_001715.3(BLK):c.1075C>T (p.Arg359Cys)
|
rs146505280
|
0.00059
|
|
NM_002334.4(LRP4):c.677-14T>C
|
rs373597511
|
0.00059
|
|
NM_002335.4(LRP5):c.686+13G>A
|
rs377344481
|
0.00059
|
|
NM_004444.5(EPHB4):c.1112C>T (p.Ala371Val)
|
rs55720981
|
0.00059
|
|
NM_005378.6(MYCN):c.69G>T (p.Ser23=)
|
rs141260022
|
0.00059
|
|
NM_006662.3(SRCAP):c.307-7T>C
|
rs201397245
|
0.00059
|
|
NM_006662.3(SRCAP):c.9229C>A (p.Arg3077=)
|
rs143133981
|
0.00059
|
|
NM_006766.5(KAT6A):c.3561C>T (p.Cys1187=)
|
rs368311389
|
0.00059
|
|
NM_014140.4(SMARCAL1):c.124A>G (p.Ile42Val)
|
rs199905841
|
0.00059
|
|
NM_016335.6(PRODH):c.822C>T (p.Asp274=)
|
rs146178333
|
0.00059
|
|
NM_022114.4(PRDM16):c.1599G>A (p.Ser533=)
|
rs373205864
|
0.00059
|
|
NM_133379.5(TTN):c.10920T>C (p.Ser3640=)
|
rs142585268
|
0.00059
|
|
NM_181882.3(PRX):c.1964C>T (p.Pro655Leu)
|
rs118003416
|
0.00059
|
|
NM_000379.4(XDH):c.1911C>T (p.Ser637=)
|
rs142197675
|
0.00058
|
|
NM_000975.5(RPL11):c.396+9A>G
|
rs201786327
|
0.00058
|
|
NM_001009944.3(PKD1):c.5318C>T (p.Thr1773Ile)
|
rs140162759
|
0.00058
|
|
NM_001009944.3(PKD1):c.9713-4C>T
|
rs200434097
|
0.00058
|
|
NM_001039141.3(TRIOBP):c.4077T>C (p.Pro1359=)
|
rs139074745
|
0.00058
|
|
NM_001098484.3(SLC4A4):c.3099+15A>G
|
rs576304574
|
0.00058
|
|
NM_001099922.3(ALG13):c.2796A>T (p.Pro932=)
|
rs748742452
|
0.00058
|
|
NM_001134831.2(AHI1):c.1533T>G (p.Val511=)
|
rs373669500
|
0.00058
|
|
NM_001903.5(CTNNA1):c.1899+18A>G
|
rs562041100
|
0.00058
|
|
NM_004836.7(EIF2AK3):c.1539G>A (p.Lys513=)
|
rs55716350
|
0.00058
|
|
NM_005559.4(LAMA1):c.4737C>T (p.Asn1579=)
|
rs201505782
|
0.00058
|
|
NM_014862.4(ARNT2):c.1918+18G>A
|
rs149334476
|
0.00058
|
|
NM_014956.5(CEP164):c.1692G>A (p.Ala564=)
|
rs143512199
|
0.00058
|
|
NM_017617.5(NOTCH1):c.4917C>T (p.Ala1639=)
|
rs371365065
|
0.00058
|
|
NM_020041.3(SLC2A9):c.30G>A (p.Lys10=)
|
rs147368076
|
0.00058
|
|
NM_020949.3(SLC7A14):c.988G>A (p.Gly330Arg)
|
rs2276717
|
0.00058
|
|
NM_021098.3(CACNA1H):c.299+20G>T
|
rs1291334132
|
0.00058
|
|
NM_022114.4(PRDM16):c.2603+6C>T
|
rs374549827
|
0.00058
|
|
NM_032578.4(MYPN):c.1236C>A (p.Thr412=)
|
rs151220474
|
0.00058
|
|
NM_172362.3(KCNH1):c.2768A>C (p.Gln923Pro)
|
rs140939826
|
0.00058
|
|
NM_181882.3(PRX):c.1625G>A (p.Arg542Gln)
|
rs139586219
|
0.00058
|
|
NM_198428.3(BBS9):c.1432+7T>G
|
rs150963080
|
0.00058
|
|
NM_000540.3(RYR1):c.14070G>A (p.Thr4690=)
|
rs113058779
|
0.00057
|
|
NM_001044.5(SLC6A3):c.60G>A (p.Glu20=)
|
rs115160598
|
0.00057
|
|
NM_001127898.4(CLCN5):c.2361-18A>G
|
rs372830719
|
0.00057
|
|
NM_001243133.2(NLRP3):c.2301C>G (p.Gly767=)
|
rs150229101
|
0.00057
|
|
NM_001358921.2(COQ2):c.1044C>T (p.Val348=)
|
rs6834269
|
0.00057
|
|
NM_001378454.1(ALMS1):c.8942A>G (p.Asn2981Ser)
|
rs200390821
|
0.00057
|
|
NM_001845.6(COL4A1):c.957+7G>A
|
rs58908343
|
0.00057
|
|
NM_003737.4(DCHS1):c.3481+9A>T
|
rs141566818
|
0.00057
|
|
NM_015141.4(GPD1L):c.619-9C>G
|
rs2044880
|
0.00057
|
|
NM_015922.3(NSDHL):c.834C>T (p.Phe278=)
|
rs149698967
|
0.00057
|
|
NM_031471.6(FERMT3):c.1692C>T (p.Asp564=)
|
rs200243967
|
0.00057
|
|
NM_182476.3(COQ6):c.1319C>A (p.Pro440Gln)
|
rs148444170
|
0.00057
|
|
NM_198241.3(EIF4G1):c.2979C>T (p.Arg993=)
|
rs11918961
|
0.00057
|
|
NM_000038.6(APC):c.4336G>A (p.Ala1446Thr)
|
rs146572883
|
0.00056
|
|
NM_000085.5(CLCNKB):c.1797G>T (p.Leu599=)
|
rs144157543
|
0.00056
|
|
NM_000092.5(COL4A4):c.1812T>C (p.His604=)
|
rs371381056
|
0.00056
|
|
NM_000213.5(ITGB4):c.3427A>G (p.Ile1143Val)
|
rs149481974
|
0.00056
|
|
NM_000342.4(SLC4A1):c.2340G>A (p.Leu780=)
|
rs139912334
|
0.00056
|
|
NM_001029.5(RPS26):c.-3A>G
|
rs181174349
|
0.00056
|
|
NM_001041.4(SI):c.3466C>T (p.Leu1156=)
|
rs144285578
|
0.00056
|
|
NM_001041.4(SI):c.484-8C>G
|
rs201820421
|
0.00056
|
|
NM_001174147.2(LMX1B):c.1059C>T (p.Asp353=)
|
rs148940265
|
0.00056
|
|
NM_001376.5(DYNC1H1):c.8784A>G (p.Gln2928=)
|
rs149753029
|
0.00056
|
|
NM_002204.4(ITGA3):c.2707-8C>T
|
rs377664197
|
0.00056
|
|
NM_002473.6(MYH9):c.4095+20C>T
|
rs201994553
|
0.00056
|
|
NM_012144.4(DNAI1):c.1923C>T (p.His641=)
|
rs145218397
|
0.00056
|
|
NM_012431.3(SEMA3E):c.1680A>G (p.Arg560=)
|
rs186628513
|
0.00056
|
|
NM_014112.5(TRPS1):c.2223G>A (p.Glu741=)
|
rs199732237
|
0.00056
|
|
NM_030943.4(AMN):c.835C>T (p.Leu279=)
|
rs371426960
|
0.00056
|
|
NM_032531.4(KIRREL3):c.908T>C (p.Val303Ala)
|
rs201725914
|
0.00056
|
|
NM_206933.4(USH2A):c.4758+3A>G
|
rs117798425
|
0.00056
|
|
NM_000064.4(C3):c.2190C>T (p.Tyr730=)
|
rs142455019
|
0.00055
|
|
NM_001009944.3(PKD1):c.12139-5C>T
|
rs146430229
|
0.00055
|
|
NM_001098.3(ACO2):c.1038G>A (p.Lys346=)
|
rs144269243
|
0.00055
|
|
NM_001164665.2(KIAA1549):c.4214T>C (p.Val1405Ala)
|
rs555092681
|
0.00055
|
|
NM_001354483.2(CSGALNACT1):c.783G>A (p.Thr261=)
|
rs76263557
|
0.00055
|
|
NM_001374828.1(ARID1B):c.535C>A (p.His179Asn)
|
rs374989034
|
0.00055
|
|
NM_002335.4(LRP5):c.1015+17G>C
|
rs374132632
|
0.00055
|
|
NM_002661.5(PLCG2):c.57G>A (p.Lys19=)
|
rs369542354
|
0.00055
|
|
NM_005378.6(MYCN):c.1062G>A (p.Ala354=)
|
rs201114632
|
0.00055
|
|
NM_006514.4(SCN10A):c.1138G>A (p.Val380Ile)
|
rs142276689
|
0.00055
|
|
NM_006790.3(MYOT):c.1190+12A>G
|
rs183456886
|
0.00055
|
|
NM_014009.4(FOXP3):c.155G>T (p.Gly52Val)
|
rs17847095
|
0.00055
|
|
NM_018979.4(WNK1):c.4320C>T (p.Ile1440=)
|
rs72650730
|
0.00055
|
|
NM_020822.3(KCNT1):c.2619C>T (p.Gly873=)
|
rs144659358
|
0.00055
|
|
NM_021005.4(NR2F2):c.537C>T (p.Ser179=)
|
rs143951395
|
0.00055
|
|
NM_032409.3(PINK1):c.1488+17C>T
|
rs140025459
|
0.00055
|
|
NM_173551.5(ANKS6):c.975C>T (p.Asp325=)
|
rs76803608
|
0.00055
|
|
NM_173842.3(IL1RN):c.69G>A (p.Thr23=)
|
rs2232353
|
0.00055
|
|
NM_194318.4(B3GLCT):c.1185-6C>G
|
rs202096313
|
0.00055
|
|
NM_000038.6(APC):c.2476T>G (p.Leu826Val)
|
rs145245264
|
0.00054
|
|
NM_000059.4(BRCA2):c.1964C>G (p.Pro655Arg)
|
rs28897712
|
0.00054
|
|
NM_000059.4(BRCA2):c.2803G>A (p.Asp935Asn)
|
rs28897716
|
0.00054
|
|
NM_000218.3(KCNQ1):c.1332G>A (p.Thr444=)
|
rs144985256
|
0.00054
|
|
NM_000238.4(KCNH2):c.3153-18C>T
|
rs201337201
|
0.00054
|
|
NM_001009944.3(PKD1):c.11688C>T (p.Gly3896=)
|
rs547262346
|
0.00054
|
|
NM_001122681.2(SH3BP2):c.1549-12C>A
|
rs202005559
|
0.00054
|
|
NM_001130438.3(SPTAN1):c.4283C>G (p.Ala1428Gly)
|
rs143166100
|
0.00054
|
|
NM_001366385.1(CARD14):c.1772C>T (p.Thr591Met)
|
rs200102454
|
0.00054
|
|
NM_003238.6(TGFB2):c.357G>A (p.Pro119=)
|
rs138514914
|
0.00054
|
|
NM_021098.3(CACNA1H):c.3845+8G>A
|
rs200291203
|
0.00054
|
|
NM_031471.6(FERMT3):c.930G>C (p.Val310=)
|
rs199508330
|
0.00054
|
|
NM_144773.4(PROKR2):c.390C>T (p.Ser130=)
|
rs144778137
|
0.00054
|
|
NM_206933.4(USH2A):c.8320G>A (p.Ala2774Thr)
|
rs111033533
|
0.00054
|
|
NM_212482.4(FN1):c.2829C>T (p.Pro943=)
|
rs112901124
|
0.00054
|
|
NM_000054.7(AVPR2):c.189T>C (p.Ala63=)
|
rs140156037
|
0.00053
|
|
NM_000085.5(CLCNKB):c.358+20G>A
|
rs199657323
|
0.00053
|
|
NM_000135.4(FANCA):c.1047G>A (p.Ala349=)
|
rs144900606
|
0.00053
|
|
NM_000138.5(FBN1):c.4683C>T (p.Ser1561=)
|
rs148024160
|
0.00053
|
|
NM_000498.3(CYP11B2):c.111G>A (p.Pro37=)
|
rs5281
|
0.00053
|
|
NM_001003841.3(SLC6A19):c.343+11C>T
|
rs146085736
|
0.00053
|
|
NM_001032221.6(STXBP1):c.326-8A>G
|
rs180716154
|
0.00053
|
|
NM_001113378.2(FANCI):c.1893A>C (p.Leu631Phe)
|
rs118138806
|
0.00053
|
|
NM_001128840.3(CACNA1D):c.222C>T (p.Pro74=)
|
rs140749530
|
0.00053
|
|
NM_001164277.2(SLC37A4):c.663G>A (p.Leu221=)
|
rs150083315
|
0.00053
|
|
NM_001289104.2(PRKCSH):c.438G>A (p.Glu146=)
|
rs143369158
|
0.00053
|
|
NM_001365276.2(TNXB):c.7802C>T (p.Pro2601Leu)
|
rs575866552
|
0.00053
|
|
NM_001680.5(FXYD2):c.110C>A (p.Ala37Asp)
|
rs138991613
|
0.00053
|
|
NM_002335.4(LRP5):c.3285C>T (p.Arg1095=)
|
rs80038357
|
0.00053
|
|
NM_004560.4(ROR2):c.494+17C>T
|
rs201549038
|
0.00053
|
|
NM_006231.4(POLE):c.6495C>T (p.Arg2165=)
|
rs114778730
|
0.00053
|
|
NM_006701.5(TXNL4A):c.423C>T (p.Arg141=)
|
rs143131944
|
0.00053
|
|
NM_006947.4(SRP72):c.1704A>G (p.Pro568=)
|
rs41280351
|
0.00053
|
|
NM_015295.3(SMCHD1):c.1132-14C>T
|
rs184510956
|
0.00053
|
|
NM_015443.4(KANSL1):c.688A>G (p.Asn230Asp)
|
rs34756740
|
0.00053
|
|
NM_017565.4(FAM20A):c.1314C>T (p.His438=)
|
rs78050433
|
0.00053
|
|
NM_017570.5(OPLAH):c.2096+8G>A
|
rs372984548
|
0.00053
|
|
NM_021098.3(CACNA1H):c.1371C>T (p.Tyr457=)
|
rs368758031
|
0.00053
|
|
NM_024740.2(ALG9):c.405+7G>A
|
rs372345664
|
0.00053
|
|
NM_144596.4(TTC8):c.910-16T>G
|
rs199763558
|
0.00053
|
|
NM_144997.7(FLCN):c.1269C>T (p.His423=)
|
rs41464156
|
0.00053
|
|
NM_173551.5(ANKS6):c.1617+12G>A
|
rs199751679
|
0.00053
|
|
NM_182961.4(SYNE1):c.2697A>G (p.Arg899=)
|
rs75817012
|
0.00053
|
|
NM_000213.5(ITGB4):c.1215+19A>G
|
rs201686414
|
0.00052
|
|
NM_000478.6(ALPL):c.468C>T (p.Asp156=)
|
rs143621566
|
0.00052
|
|
NM_001003841.3(SLC6A19):c.45C>G (p.Ile15Met)
|
rs138390777
|
0.00052
|
|
NM_001042492.3(NF1):c.7461A>G (p.Thr2487=)
|
rs149924365
|
0.00052
|
|
NM_001081.4(CUBN):c.2016G>A (p.Pro672=)
|
rs148107237
|
0.00052
|
|
NM_001083962.2(TCF4):c.*5-10C>T
|
rs552239655
|
0.00052
|
|
NM_001102564.3(IFT43):c.136C>T (p.Leu46=)
|
rs151137087
|
0.00052
|
|
NM_001105206.3(LAMA4):c.674C>T (p.Ala225Val)
|
rs149615862
|
0.00052
|
|
NM_001144967.3(NEDD4L):c.49-6T>C
|
rs375043092
|
0.00052
|
|
NM_001220.5(CAMK2B):c.1260G>A (p.Arg420=)
|
rs550135870
|
0.00052
|
|
NM_002471.4(MYH6):c.3903G>A (p.Ser1301=)
|
rs201804323
|
0.00052
|
|
NM_002764.4(PRPS1):c.705-11T>C
|
rs190164271
|
0.00052
|
|
NM_003900.5(SQSTM1):c.1176G>A (p.Pro392=)
|
rs75700262
|
0.00052
|
|
NM_004924.6(ACTN4):c.1341G>A (p.Ser447=)
|
rs139243684
|
0.00052
|
|
NM_014956.5(CEP164):c.2844+8A>G
|
rs142545580
|
0.00052
|
|
NM_015311.3(OBSL1):c.2577G>T (p.Gly859=)
|
rs141559295
|
0.00052
|
|
NM_015311.3(OBSL1):c.2578C>T (p.Pro860Ser)
|
rs117788171
|
0.00052
|
|
NM_025114.4(CEP290):c.4705-18C>T
|
rs199751805
|
0.00052
|
|
NM_138694.4(PKHD1):c.11311-19C>G
|
rs181140024
|
0.00052
|
|
NM_175875.5(SIX5):c.1264C>T (p.Leu422=)
|
rs193244455
|
0.00052
|
|
NM_000143.4(FH):c.77C>T (p.Pro26Leu)
|
rs187226800
|
0.00051
|
|
NM_000987.5(RPL26):c.168+17G>A
|
rs368557278
|
0.00051
|
|
NM_001009944.3(PKD1):c.9506G>A (p.Arg3169Gln)
|
rs375378535
|
0.00051
|
|
NM_001046.3(SLC12A2):c.495C>T (p.Asp165=)
|
rs138234695
|
0.00051
|
|
NM_001144967.3(NEDD4L):c.535T>A (p.Ser179Thr)
|
rs185533207
|
0.00051
|
|
NM_001148.6(ANK2):c.7971C>T (p.Ser2657=)
|
rs146085234
|
0.00051
|
|
NM_001148.6(ANK2):c.9923C>G (p.Thr3308Ser)
|
rs145145511
|
0.00051
|
|
NM_001174147.2(LMX1B):c.870C>A (p.Ser290=)
|
rs544649941
|
0.00051
|
|
NM_001366110.1(PAX4):c.116G>A (p.Arg39Gln)
|
rs115887120
|
0.00051
|
|
NM_001378452.1(ITPR1):c.3945T>C (p.Asn1315=)
|
rs193212750
|
0.00051
|
|
NM_001626.6(AKT2):c.282C>T (p.Asp94=)
|
rs139125633
|
0.00051
|
|
NM_007078.3(LDB3):c.1045T>A (p.Ser349Thr)
|
rs147042608
|
0.00051
|
|
NM_012188.5(FOXI1):c.231C>G (p.Pro77=)
|
rs550209761
|
0.00051
|
|
NM_012301.4(MAGI2):c.2616C>T (p.Asn872=)
|
rs148005928
|
0.00051
|
|
NM_015158.5(KANK1):c.2847G>A (p.Thr949=)
|
rs114869733
|
0.00051
|
|
NM_024408.4(NOTCH2):c.7140G>C (p.Val2380=)
|
rs150785478
|
0.00051
|
|
NM_024426.6(WT1):c.1161A>G (p.Ala387=)
|
rs141834493
|
0.00051
|
|
NM_030943.4(AMN):c.63C>T (p.Ser21=)
|
rs150802428
|
0.00051
|
|
NM_032444.4(SLX4):c.4836C>T (p.Asp1612=)
|
rs140844106
|
0.00051
|
|
NM_212482.4(FN1):c.6336T>C (p.Pro2112=)
|
rs148278567
|
0.00051
|
|
NM_000085.5(CLCNKB):c.1569C>T (p.Thr523=)
|
rs146084461
|
0.00050
|
|
NM_000186.4(CFH):c.2509G>A (p.Val837Ile)
|
rs55807605
|
0.00050
|
|
NM_000186.4(CFH):c.2637A>G (p.Gly879=)
|
rs55752475
|
0.00050
|
|
NM_000218.3(KCNQ1):c.1431C>T (p.Pro477=)
|
rs137887424
|
0.00050
|
|
NM_001105206.3(LAMA4):c.5340A>G (p.Thr1780=)
|
rs139241892
|
0.00050
|
|
NM_001206927.2(DNAH8):c.11701G>A (p.Ala3901Thr)
|
rs560568324
|
0.00050
|
|
NM_001372.4(DNAH9):c.4745+11G>A
|
rs188575211
|
0.00050
|
|
NM_001692.4(ATP6V1B1):c.1236C>G (p.Val412=)
|
rs147229014
|
0.00050
|
|
NM_002335.4(LRP5):c.2046T>C (p.Phe682=)
|
rs61740517
|
0.00050
|
|
NM_002473.6(MYH9):c.5542C>G (p.Leu1848Val)
|
rs201174456
|
0.00050
|
|
NM_003052.5(SLC34A1):c.621G>A (p.Ala207=)
|
rs137909349
|
0.00050
|
|
NM_004380.3(CREBBP):c.2409C>T (p.Ser803=)
|
rs139207930
|
0.00050
|
|
NM_014714.4(IFT140):c.3988G>A (p.Ala1330Thr)
|
rs200699325
|
0.00050
|
|
NM_018417.6(ADCY10):c.324G>A (p.Glu108=)
|
rs145109141
|
0.00050
|
|
NM_020347.4(LZTFL1):c.881+16C>T
|
rs193075494
|
0.00050
|
|
NM_206933.4(USH2A):c.15427C>T (p.Arg5143Cys)
|
rs145771342
|
0.00050
|
|
NM_000054.7(AVPR2):c.441G>A (p.Ala147=)
|
rs143055328
|
0.00049
|
|
NM_000497.4(CYP11B1):c.29G>A (p.Cys10Tyr)
|
rs6405
|
0.00049
|
|
NM_000965.5(RARB):c.768C>T (p.Ala256=)
|
rs115482149
|
0.00049
|
|
NM_001111125.3(IQSEC2):c.837C>T (p.Ser279=)
|
rs374638286
|
0.00049
|
|
NM_001171.6(ABCC6):c.1540G>A (p.Val514Ile)
|
rs59157279
|
0.00049
|
|
NM_001379081.2(FREM1):c.4995C>T (p.Asp1665=)
|
rs372941168
|
0.00049
|
|
NM_001845.6(COL4A1):c.690C>T (p.Asp230=)
|
rs149688210
|
0.00049
|
|
NM_001863.5(COX6B1):c.107-16A>G
|
rs187740487
|
0.00049
|
|
NM_003982.4(SLC7A7):c.500-20C>G
|
rs375933584
|
0.00049
|
|
NM_004380.3(CREBBP):c.5886C>T (p.Ile1962=)
|
rs370565083
|
0.00049
|
|
NM_004998.4(MYO1E):c.669G>A (p.Gln223=)
|
rs142105673
|
0.00049
|
|
NM_017763.6(RNF43):c.319G>A (p.Val107Ile)
|
rs199909371
|
0.00049
|
|
NM_020347.4(LZTFL1):c.128+13G>A
|
rs192123238
|
0.00049
|
|
NM_212482.4(FN1):c.117C>G (p.Pro39=)
|
rs148348956
|
0.00049
|
|
NM_212482.4(FN1):c.5623-13C>G
|
rs192981567
|
0.00049
|
|
NM_000213.5(ITGB4):c.387C>T (p.Pro129=)
|
rs140040189
|
0.00048
|
|
NM_000278.5(PAX2):c.212+12G>A
|
rs546505132
|
0.00048
|
|
NM_000335.5(SCN5A):c.1335C>T (p.His445=)
|
rs368045716
|
0.00048
|
|
NM_000338.3(SLC12A1):c.708C>T (p.Asn236=)
|
rs141106709
|
0.00048
|
|
NM_000444.6(PHEX):c.249C>T (p.Phe83=)
|
rs145224279
|
0.00048
|
|
NM_001001433.3(STX16):c.585G>A (p.Gln195=)
|
rs147137636
|
0.00048
|
|
NM_001041.4(SI):c.2343T>C (p.Tyr781=)
|
rs539868642
|
0.00048
|
|
NM_001099922.3(ALG13):c.1327-19A>G
|
rs375412069
|
0.00048
|
|
NM_001143992.2(WRAP53):c.732C>T (p.Tyr244=)
|
rs8071451
|
0.00048
|
|
NM_001170629.2(CHD8):c.6119A>G (p.Asp2040Gly)
|
rs148494847
|
0.00048
|
|
NM_001206927.2(DNAH8):c.4303-15T>C
|
rs201364154
|
0.00048
|
|
NM_001243133.2(NLRP3):c.203T>C (p.Met68Thr)
|
rs147559626
|
0.00048
|
|
NM_001957.4(EDNRA):c.549-10T>C
|
rs10305905
|
0.00048
|
|
NM_002335.4(LRP5):c.4348+19G>A
|
rs112052770
|
0.00048
|
|
NM_002661.5(PLCG2):c.110C>A (p.Thr37Asn)
|
rs147349332
|
0.00048
|
|
NM_002834.5(PTPN11):c.1658C>T (p.Thr553Met)
|
rs148176616
|
0.00048
|
|
NM_002968.3(SALL1):c.3310C>G (p.Pro1104Ala)
|
rs547153228
|
0.00048
|
|
NM_004924.6(ACTN4):c.2316G>A (p.Ala772=)
|
rs192382222
|
0.00048
|
|
NM_004972.4(JAK2):c.380G>A (p.Gly127Asp)
|
rs56118985
|
0.00048
|
|
NM_005188.4(CBL):c.1227+4C>T
|
rs201747825
|
0.00048
|
|
NM_006502.3(POLH):c.1433C>T (p.Thr478Met)
|
rs9296419
|
0.00048
|
|
NM_017827.4(SARS2):c.576C>T (p.Val192=)
|
rs150249937
|
0.00048
|
|
NM_018979.4(WNK1):c.915G>A (p.Thr305=)
|
rs72648609
|
0.00048
|
|
NM_020638.3(FGF23):c.342G>A (p.Arg114=)
|
rs138972495
|
0.00048
|
|
NM_020928.2(ZSWIM6):c.1472A>G (p.Asn491Ser)
|
rs201912422
|
0.00048
|
|
NM_021098.3(CACNA1H):c.3969+20C>T
|
rs201422742
|
0.00048
|
|
NM_021098.3(CACNA1H):c.5445+6C>T
|
rs372544546
|
0.00048
|
|
NM_021098.3(CACNA1H):c.6198C>T (p.Ser2066=)
|
rs375020212
|
0.00048
|
|
NM_022124.6(CDH23):c.832+8A>G
|
rs56129333
|
0.00048
|
|
NM_024334.3(TMEM43):c.705+7G>A
|
rs201916031
|
0.00048
|
|
NM_033028.5(BBS4):c.460-20T>C
|
rs200203402
|
0.00048
|
|
NM_173551.5(ANKS6):c.1458T>C (p.Pro486=)
|
rs201904871
|
0.00048
|
|
NM_181776.3(SLC36A2):c.1392C>T (p.Asp464=)
|
rs144651323
|
0.00048
|
|
NM_001018115.3(FANCD2):c.4038+8G>A
|
rs190990145
|
0.00047
|
|
NM_001041.4(SI):c.2721T>C (p.Tyr907=)
|
rs140829463
|
0.00047
|
|
NM_001099922.3(ALG13):c.3399A>G (p.Val1133=)
|
rs372982045
|
0.00047
|
|
NM_001174147.2(LMX1B):c.140-4A>G
|
rs368126014
|
0.00047
|
|
NM_001365276.2(TNXB):c.4209C>T (p.Thr1403=)
|
rs148934769
|
0.00047
|
|
NM_001365276.2(TNXB):c.9762C>T (p.Pro3254=)
|
rs190855421
|
0.00047
|
|
NM_001379110.1(SLC9A6):c.1460+6T>C
|
rs781963949
|
0.00047
|
|
NM_001735.3(C5):c.4899C>T (p.Phe1633=)
|
rs149147126
|
0.00047
|
|
NM_001999.4(FBN2):c.6841A>T (p.Ile2281Phe)
|
rs115223340
|
0.00047
|
|
NM_002834.5(PTPN11):c.1379+20C>T
|
rs184743462
|
0.00047
|
|
NM_004565.3(PEX14):c.78G>A (p.Glu26=)
|
rs144664869
|
0.00047
|
|
NM_006514.4(SCN10A):c.4984G>A (p.Gly1662Ser)
|
rs151090729
|
0.00047
|
|
NM_017570.5(OPLAH):c.2880T>G (p.Ala960=)
|
rs372144482
|
0.00047
|
|
NM_020937.4(FANCM):c.1551G>A (p.Thr517=)
|
rs139535827
|
0.00047
|
|
NM_030665.4(RAI1):c.4317G>T (p.Gly1439=)
|
rs572421943
|
0.00047
|
|
NM_032119.4(ADGRV1):c.2241-10A>T
|
rs150996234
|
0.00047
|
|
NM_033380.3(COL4A5):c.1187C>T (p.Pro396Leu)
|
rs113013606
|
0.00047
|
|
NM_033380.3(COL4A5):c.1588-13T>G
|
rs201708502
|
0.00047
|
|
NM_138413.4(HOGA1):c.931C>T (p.Pro311Ser)
|
rs116455504
|
0.00047
|
|
NM_198578.4(LRRK2):c.1383T>C (p.Ser461=)
|
rs35847451
|
0.00047
|
|
NM_000162.5(GCK):c.46-5598A>T
|
rs13306393
|
0.00046
|
|
NM_000342.4(SLC4A1):c.297C>T (p.Leu99=)
|
rs146541331
|
0.00046
|
|
NM_000379.4(XDH):c.192G>T (p.Lys64Asn)
|
rs182317768
|
0.00046
|
|
NM_000393.5(COL5A2):c.1456-20T>C
|
rs150724439
|
0.00046
|
|
NM_000755.5(CRAT):c.1452C>T (p.Asp484=)
|
rs113981850
|
0.00046
|
|
NM_000755.5(CRAT):c.1797C>T (p.Asn599=)
|
rs2296770
|
0.00046
|
|
NM_001018113.3(FANCB):c.1067C>T (p.Ser356Leu)
|
rs142304943
|
0.00046
|
|
NM_001034853.2(RPGR):c.1240G>C (p.Glu414Gln)
|
rs150549982
|
0.00046
|
|
NM_001041.4(SI):c.3634-14A>T
|
rs199634091
|
0.00046
|
|
NM_001110556.2(FLNA):c.7267C>T (p.Pro2423Ser)
|
rs200198847
|
0.00046
|
|
NM_001148.6(ANK2):c.10289A>C (p.Glu3430Ala)
|
rs149574241
|
0.00046
|
|
NM_001282531.3(ADNP):c.3058C>G (p.Gln1020Glu)
|
rs150374762
|
0.00046
|
|
NM_001291415.2(KDM6A):c.1683+20C>T
|
rs557391484
|
0.00046
|
|
NM_001349206.2(LPIN1):c.564G>A (p.Ser188=)
|
rs149765431
|
0.00046
|
|
NM_001372066.1(TFAP2A):c.924C>T (p.Tyr308=)
|
rs141711078
|
0.00046
|
|
NM_002473.6(MYH9):c.3485+18G>C
|
rs200835614
|
0.00046
|
|
NM_003998.4(NFKB1):c.1601G>A (p.Arg534His)
|
rs150281816
|
0.00046
|
|
NM_004082.5(DCTN1):c.279+8C>T
|
rs376401397
|
0.00046
|
|
NM_004525.3(LRP2):c.13728+13G>A
|
rs200492791
|
0.00046
|
|
NM_005045.4(RELN):c.5530-18A>G
|
rs188302870
|
0.00046
|
|
NM_006306.4(SMC1A):c.1912-14C>T
|
rs375109064
|
0.00046
|
|
NM_006662.3(SRCAP):c.633+9T>C
|
rs150267250
|
0.00046
|
|
NM_007118.4(TRIO):c.7401T>C (p.Ser2467=)
|
rs377647192
|
0.00046
|
|
NM_007294.4(BRCA1):c.2566T>C (p.Tyr856His)
|
rs80356892
|
0.00046
|
|
NM_019109.5(ALG1):c.391-15C>G
|
rs374836725
|
0.00046
|
|
NM_020937.4(FANCM):c.159C>T (p.Asp53=)
|
rs147559750
|
0.00046
|
|
NM_024740.2(ALG9):c.537C>T (p.Leu179=)
|
rs199614437
|
0.00046
|
|
NM_032228.6(FAR1):c.909T>C (p.Tyr303=)
|
rs2293593
|
0.00046
|
|
NM_032575.3(GLIS2):c.1284G>A (p.Leu428=)
|
rs202243000
|
0.00046
|
|
NM_033028.5(BBS4):c.157-19A>G
|
rs373166573
|
0.00046
|
|
NM_144585.4(SLC22A12):c.662-7C>T
|
rs373881060
|
0.00046
|
|
NM_000944.5(PPP3CA):c.496+11T>C
|
rs369281154
|
0.00045
|
|
NM_000969.5(RPL5):c.423C>T (p.Ala141=)
|
rs138277390
|
0.00045
|
|
NM_001009944.3(PKD1):c.3228G>A (p.Pro1076=)
|
rs2575316
|
0.00045
|
|
NM_001041.4(SI):c.1278+8T>G
|
rs368886500
|
0.00045
|
|
NM_001080.3(ALDH5A1):c.355-9C>G
|
rs375453445
|
0.00045
|
|
NM_001102564.3(IFT43):c.383G>A (p.Arg128Gln)
|
rs138684775
|
0.00045
|
|
NM_001127198.5(TMC6):c.536+14del
|
rs544848558
|
0.00045
|
|
NM_001753.5(CAV1):c.246C>T (p.Asp82=)
|
rs35242077
|
0.00045
|
|
NM_002968.3(SALL1):c.2331C>T (p.Asn777=)
|
rs144747142
|
0.00045
|
|
NM_004606.5(TAF1):c.422C>T (p.Pro141Leu)
|
rs141145230
|
0.00045
|
|
NM_014994.3(MAPKBP1):c.2236C>T (p.Arg746Trp)
|
rs61729964
|
0.00045
|
|
NM_015922.3(NSDHL):c.351T>C (p.Phe117=)
|
rs138711934
|
0.00045
|
|
NM_021098.3(CACNA1H):c.6222C>T (p.Phe2074=)
|
rs373620549
|
0.00045
|
|
NM_173551.5(ANKS6):c.2343C>T (p.Ile781=)
|
rs146161090
|
0.00045
|
|
NM_175914.5(HNF4A):c.999C>T (p.Ile333=)
|
rs150247632
|
0.00045
|
|
NM_212482.4(FN1):c.5761A>T (p.Ile1921Phe)
|
rs138593265
|
0.00045
|
|
NM_000064.4(C3):c.1449C>T (p.His483=)
|
rs140133060
|
0.00044
|
|
NM_000133.4(F9):c.907C>T (p.His303Tyr)
|
rs1801202
|
0.00044
|
|
NM_000282.4(PCCA):c.1002C>T (p.Thr334=)
|
rs150106872
|
0.00044
|
|
NM_000297.4(PKD2):c.1617G>C (p.Leu539=)
|
rs145297759
|
0.00044
|
|
NM_001009944.3(PKD1):c.8925C>T (p.Pro2975=)
|
rs148159605
|
0.00044
|
|
NM_001022.4(RPS19):c.1-14A>G
|
rs201317022
|
0.00044
|
|
NM_001041.4(SI):c.885T>C (p.Phe295=)
|
rs141754766
|
0.00044
|
|
NM_001046.3(SLC12A2):c.953-7C>T
|
rs201608609
|
0.00044
|
|
NM_001061.7(TBXAS1):c.999C>T (p.Gly333=)
|
rs149759095
|
0.00044
|
|
NM_001173464.2(KIF21A):c.3959G>A (p.Arg1320Lys)
|
rs142879430
|
0.00044
|
|
NM_001348768.2(HECW2):c.4181A>G (p.Asn1394Ser)
|
rs149764323
|
0.00044
|
|
NM_001903.5(CTNNA1):c.1782C>T (p.Ala594=)
|
rs142503438
|
0.00044
|
|
NM_002204.4(ITGA3):c.1825-15C>T
|
rs200189464
|
0.00044
|
|
NM_004782.4(SNAP29):c.265G>A (p.Glu89Lys)
|
rs151146863
|
0.00044
|
|
NM_006073.4(TRDN):c.611-19A>T
|
rs142018848
|
0.00044
|
|
NM_006579.3(EBP):c.650C>T (p.Thr217Met)
|
rs150348311
|
0.00044
|
|
NM_014000.3(VCL):c.1237G>A (p.Ala413Thr)
|
rs146278697
|
0.00044
|
|
NM_015443.4(KANSL1):c.1689C>T (p.Asp563=)
|
rs113557856
|
0.00044
|
|
NM_015922.3(NSDHL):c.678C>T (p.Phe226=)
|
rs147293409
|
0.00044
|
|
NM_016341.4(PLCE1):c.2352C>T (p.Asp784=)
|
rs201793869
|
0.00044
|
|
NM_017649.5(CNNM2):c.903C>T (p.Tyr301=)
|
rs140279763
|
0.00044
|
|
NM_019112.4(ABCA7):c.1061T>C (p.Met354Thr)
|
rs143296441
|
0.00044
|
|
NM_020436.5(SALL4):c.2268C>T (p.Ser756=)
|
rs145078336
|
0.00044
|
|
NM_022089.4(ATP13A2):c.3235+20C>T
|
rs376475762
|
0.00044
|
|
NM_145239.3(PRRT2):c.439G>C (p.Asp147His)
|
rs79568162
|
0.00044
|
|
NM_173551.5(ANKS6):c.537A>G (p.Gln179=)
|
rs200417280
|
0.00044
|
|
NM_205836.3(FBXO38):c.931C>A (p.Leu311Ile)
|
rs142117467
|
0.00044
|
|
NM_000251.3(MSH2):c.1680T>C (p.Asn560=)
|
rs200056411
|
0.00043
|
|
NM_000302.4(PLOD1):c.579+17G>A
|
rs181015965
|
0.00043
|
|
NM_000379.4(XDH):c.793+19G>A
|
rs45625137
|
0.00043
|
|
NM_001035.3(RYR2):c.13974A>G (p.Gly4658=)
|
rs374606415
|
0.00043
|
|
NM_001358921.2(COQ2):c.625T>C (p.Leu209=)
|
rs367968754
|
0.00043
|
|
NM_001384732.1(CPLANE1):c.3012T>C (p.Tyr1004=)
|
rs546670307
|
0.00043
|
|
NM_004304.5(ALK):c.3057C>A (p.Val1019=)
|
rs138406372
|
0.00043
|
|
NM_004333.6(BRAF):c.2127+3A>G
|
rs371976102
|
0.00043
|
|
NM_004998.4(MYO1E):c.1530+14C>T
|
rs116371817
|
0.00043
|
|
NM_004998.4(MYO1E):c.2878+19G>A
|
rs200710336
|
0.00043
|
|
NM_006005.3(WFS1):c.2085C>T (p.Gly695=)
|
rs150568382
|
0.00043
|
|
NM_012301.4(MAGI2):c.3706+12G>A
|
rs183407324
|
0.00043
|
|
NM_013322.3(SNX10):c.212+4A>T
|
rs183941048
|
0.00043
|
|
NM_015662.3(IFT172):c.2023-15C>A
|
rs377630264
|
0.00043
|
|
NM_015909.4(NBAS):c.5596G>A (p.Val1866Ile)
|
rs574477358
|
0.00043
|
|
NM_018979.4(WNK1):c.6528C>T (p.Ser2176=)
|
rs146574444
|
0.00043
|
|
NM_020381.4(PDSS2):c.877-20C>T
|
rs138097933
|
0.00043
|
|
NM_021098.3(CACNA1H):c.4476+15C>T
|
rs201891003
|
0.00043
|
|
NM_024757.5(EHMT1):c.204T>C (p.Asn68=)
|
rs3812496
|
0.00043
|
|
NM_032387.5(WNK4):c.1853G>T (p.Cys618Phe)
|
rs143396070
|
0.00043
|
|
NM_138694.4(PKHD1):c.11310+13A>G
|
rs191991777
|
0.00043
|
|
NM_139027.6(ADAMTS13):c.1290C>T (p.Ala430=)
|
rs138401488
|
0.00043
|
|
NM_207361.6(FREM2):c.4632T>C (p.Ser1544=)
|
rs146140915
|
0.00043
|
|
NM_000133.4(F9):c.8G>A (p.Arg3His)
|
rs148060786
|
0.00042
|
|
NM_000548.5(TSC2):c.3610+9C>T
|
rs45467194
|
0.00042
|
|
NM_001123385.2(BCOR):c.409G>A (p.Val137Ile)
|
rs146403660
|
0.00042
|
|
NM_001735.3(C5):c.4785C>T (p.Asp1595=)
|
rs79033710
|
0.00042
|
|
NM_004069.6(AP2S1):c.261C>T (p.Phe87=)
|
rs151335841
|
0.00042
|
|
NM_004092.4(ECHS1):c.489G>A (p.Pro163=)
|
rs140410716
|
0.00042
|
|
NM_004646.4(NPHS1):c.246G>A (p.Arg82=)
|
rs369681703
|
0.00042
|
|
NM_004646.4(NPHS1):c.699C>T (p.Thr233=)
|
rs144398621
|
0.00042
|
|
NM_004937.3(CTNS):c.562-20T>C
|
rs764063960
|
0.00042
|
|
NM_005506.4(SCARB2):c.276-7C>G
|
rs200507087
|
0.00042
|
|
NM_013275.6(ANKRD11):c.1852G>A (p.Ala618Thr)
|
rs140370885
|
0.00042
|
|
NM_014780.5(CUL7):c.1030G>A (p.Ala344Thr)
|
rs183119565
|
0.00042
|
|
NM_015443.4(KANSL1):c.571G>T (p.Gly191Cys)
|
rs149566146
|
0.00042
|
|
NM_021098.3(CACNA1H):c.3845+11C>T
|
rs58080058
|
0.00042
|
|
NM_021828.5(HPSE2):c.573G>A (p.Glu191=)
|
rs148098032
|
0.00042
|
|
NM_022455.5(NSD1):c.3564G>C (p.Arg1188Ser)
|
rs199814669
|
0.00042
|
|
NM_133379.5(TTN):c.10617T>C (p.His3539=)
|
rs200284932
|
0.00042
|
|
NM_153240.5(NPHP3):c.393+18C>T
|
rs367765709
|
0.00042
|
|
NM_173551.5(ANKS6):c.609C>T (p.His203=)
|
rs372936113
|
0.00042
|
|
NM_000064.4(C3):c.1452G>A (p.Glu484=)
|
rs146594928
|
0.00041
|
|
NM_000064.4(C3):c.1731T>C (p.Pro577=)
|
rs148182019
|
0.00041
|
|
NM_000091.5(COL4A3):c.21C>A (p.Pro7=)
|
rs530353117
|
0.00041
|
|
NM_000135.4(FANCA):c.3412C>G (p.Leu1138Val)
|
rs138417003
|
0.00041
|
|
NM_000431.4(MVK):c.-15+16C>T
|
rs758229545
|
0.00041
|
|
NM_000489.6(ATRX):c.2169G>C (p.Glu723Asp)
|
rs61752456
|
0.00041
|
|
NM_000528.4(MAN2B1):c.135C>T (p.Ala45=)
|
rs200413076
|
0.00041
|
|
NM_000785.4(CYP27B1):c.690G>A (p.Val230=)
|
rs61734540
|
0.00041
|
|
NM_001004356.3(FGFRL1):c.541G>A (p.Asp181Asn)
|
rs201262483
|
0.00041
|
|
NM_001009944.3(PKD1):c.2193G>T (p.Pro731=)
|
rs768813212
|
0.00041
|
|
NM_001110556.2(FLNA):c.3207+14G>A
|
rs200710010
|
0.00041
|
|
NM_001134831.2(AHI1):c.3342A>G (p.Glu1114=)
|
rs199708272
|
0.00041
|
|
NM_001177316.2(SLC34A3):c.1071C>T (p.Val357=)
|
rs142839759
|
0.00041
|
|
NM_001203.3(BMPR1B):c.1384-8T>C
|
rs201359647
|
0.00041
|
|
NM_001904.4(CTNNB1):c.1155C>A (p.Leu385=)
|
rs74692094
|
0.00041
|
|
NM_001963.6(EGF):c.978C>T (p.Ser326=)
|
rs145706760
|
0.00041
|
|
NM_002230.4(JUP):c.510G>A (p.Ser170=)
|
rs140539043
|
0.00041
|
|
NM_002296.4(LBR):c.1315-13T>C
|
rs201793983
|
0.00041
|
|
NM_002661.5(PLCG2):c.2054+11G>C
|
rs372245323
|
0.00041
|
|
NM_003722.5(TP63):c.498C>T (p.Pro166=)
|
rs146612442
|
0.00041
|
|
NM_004380.3(CREBBP):c.879G>A (p.Val293=)
|
rs144344016
|
0.00041
|
|
NM_004482.4(GALNT3):c.189G>A (p.Leu63=)
|
rs188814778
|
0.00041
|
|
NM_004924.6(ACTN4):c.2011-5C>T
|
rs372743117
|
0.00041
|
|
NM_006734.4(HIVEP2):c.6884C>T (p.Pro2295Leu)
|
rs201249840
|
0.00041
|
|
NM_014956.5(CEP164):c.1409+10G>A
|
rs199783386
|
0.00041
|
|
NM_014956.5(CEP164):c.2617-13A>G
|
rs372968944
|
0.00041
|
|
NM_014967.5(FAN1):c.174G>A (p.Arg58=)
|
rs143965941
|
0.00041
|
|
NM_015158.5(KANK1):c.93C>T (p.Tyr31=)
|
rs151056048
|
0.00041
|
|
NM_015915.5(ATL1):c.408T>C (p.Asp136=)
|
rs76375909
|
0.00041
|
|
NM_021098.3(CACNA1H):c.5679G>T (p.Arg1893=)
|
rs58304047
|
0.00041
|
|
NM_021098.3(CACNA1H):c.5958G>A (p.Ser1986=)
|
rs370805573
|
0.00041
|
|
NM_021098.3(CACNA1H):c.888C>T (p.Asp296=)
|
rs79829712
|
0.00041
|
|
NM_024753.5(TTC21B):c.2829A>G (p.Leu943=)
|
rs146009256
|
0.00041
|
|
NM_025132.4(WDR19):c.13+15G>A
|
rs150633358
|
0.00041
|
|
NM_031220.4(PITPNM3):c.1671C>T (p.Tyr557=)
|
rs74748737
|
0.00041
|
|
NM_032387.5(WNK4):c.1864-11T>C
|
rs61755599
|
0.00041
|
|
NM_138281.3(DLX4):c.204C>T (p.Ser68=)
|
rs200579401
|
0.00041
|
|
NM_144573.4(NEXN):c.1785C>T (p.Asp595=)
|
rs182998780
|
0.00041
|
|
NM_153704.6(TMEM67):c.577-6A>G
|
rs191516556
|
0.00041
|
|
NM_000238.4(KCNH2):c.2965+14C>T
|
rs201706355
|
0.00040
|
|
NM_000278.5(PAX2):c.354C>T (p.Leu118=)
|
rs142934523
|
0.00040
|
|
NM_000969.5(RPL5):c.3+12C>T
|
rs200130961
|
0.00040
|
|
NM_001009944.3(PKD1):c.7866C>T (p.Tyr2622=)
|
rs181130940
|
0.00040
|
|
NM_001081.4(CUBN):c.9826+15G>A
|
rs369467797
|
0.00040
|
|
NM_001102564.3(IFT43):c.369-18G>A
|
rs199590828
|
0.00040
|
|
NM_001204.7(BMPR2):c.63C>T (p.Val21=)
|
rs149973695
|
0.00040
|
|
NM_001304438.2(TMEM132E):c.257A>C (p.Glu86Ala)
|
rs147874855
|
0.00040
|
|
NM_001680.5(FXYD2):c.126C>T (p.Leu42=)
|
rs144279659
|
0.00040
|
|
NM_003183.6(ADAM17):c.2134-11T>C
|
rs79715435
|
0.00040
|
|
NM_003477.3(PDHX):c.242-17C>T
|
rs188930453
|
0.00040
|
|
NM_003597.5(KLF11):c.1503G>A (p.Pro501=)
|
rs36091043
|
0.00040
|
|
NM_004525.3(LRP2):c.6048C>T (p.Ala2016=)
|
rs144449508
|
0.00040
|
|
NM_006939.4(SOS2):c.1521G>T (p.Glu507Asp)
|
rs141604342
|
0.00040
|
|
NM_012301.4(MAGI2):c.4353G>A (p.Ser1451=)
|
rs576579796
|
0.00040
|
|
NM_014014.5(SNRNP200):c.982+10T>C
|
rs371450437
|
0.00040
|
|
NM_020699.4(GATAD2B):c.1020C>T (p.Ser340=)
|
rs140272058
|
0.00040
|
|
NM_021098.3(CACNA1H):c.1213-7G>A
|
rs372752869
|
0.00040
|
|
NM_032444.4(SLX4):c.2160+18C>T
|
rs373726275
|
0.00040
|
|
NM_032578.4(MYPN):c.2190G>A (p.Thr730=)
|
rs71584492
|
0.00040
|
|
NM_033028.5(BBS4):c.24+8C>T
|
rs200055760
|
0.00040
|
|
NM_052989.3(IFT122):c.3266-19C>T
|
rs201753855
|
0.00040
|
|
NM_206933.4(USH2A):c.9340C>T (p.Pro3114Ser)
|
rs201071654
|
0.00040
|
|
NM_212482.4(FN1):c.5164+14G>T
|
rs186800160
|
0.00040
|
|
NM_212482.4(FN1):c.5532A>C (p.Arg1844=)
|
rs149965879
|
0.00040
|
|
NM_000186.4(CFH):c.2821G>T (p.Val941Phe)
|
rs529491401
|
0.00039
|
|
NM_000217.3(KCNA1):c.393G>A (p.Arg131=)
|
rs142184899
|
0.00039
|
|
NM_000340.2(SLC2A2):c.963+14C>T
|
rs189551647
|
0.00039
|
|
NM_000368.5(TSC1):c.2505C>T (p.Leu835=)
|
rs112384441
|
0.00039
|
|
NM_000475.5(NR0B1):c.600C>G (p.Cys200Trp)
|
rs143141578
|
0.00039
|
|
NM_001002295.2(GATA3):c.294C>T (p.Asp98=)
|
rs144221016
|
0.00039
|
|
NM_001044.5(SLC6A3):c.1470C>T (p.Ile490=)
|
rs8179034
|
0.00039
|
|
NM_001099922.3(ALG13):c.2248-15G>C
|
rs139711892
|
0.00039
|
|
NM_001101.5(ACTB):c.984+15T>C
|
rs372551192
|
0.00039
|
|
NM_001144967.3(NEDD4L):c.1833+17T>C
|
rs189511948
|
0.00039
|
|
NM_001177316.2(SLC34A3):c.1191G>A (p.Ala397=)
|
rs199701166
|
0.00039
|
|
NM_001365276.2(TNXB):c.8468-1G>A
|
rs200718357
|
0.00039
|
|
NM_001372066.1(TFAP2A):c.141G>A (p.Leu47=)
|
rs149126243
|
0.00039
|
|
NM_001384140.1(PCDH15):c.3451G>A (p.Gly1151Arg)
|
rs149478475
|
0.00039
|
|
NM_001845.6(COL4A1):c.1084+19T>C
|
rs542492789
|
0.00039
|
|
NM_001863.5(COX6B1):c.243G>A (p.Thr81=)
|
rs141958404
|
0.00039
|
|
NM_001943.5(DSG2):c.121C>A (p.His41Asn)
|
rs201499704
|
0.00039
|
|
NM_002204.4(ITGA3):c.234C>T (p.Leu78=)
|
rs112180126
|
0.00039
|
|
NM_002335.4(LRP5):c.2763C>T (p.Pro921=)
|
rs147158768
|
0.00039
|
|
NM_002335.4(LRP5):c.4000+11C>G
|
rs367615138
|
0.00039
|
|
NM_002473.6(MYH9):c.1167C>T (p.Ile389=)
|
rs114048959
|
0.00039
|
|
NM_002473.6(MYH9):c.769+15C>T
|
rs201691359
|
0.00039
|
|
NM_003242.6(TGFBR2):c.571G>A (p.Val191Ile)
|
rs56105708
|
0.00039
|
|
NM_003590.5(CUL3):c.264+9C>T
|
rs200018000
|
0.00039
|
|
NM_004357.5(CD151):c.456+9G>A
|
rs375059668
|
0.00039
|
|
NM_004958.4(MTOR):c.1145A>G (p.Asn382Ser)
|
rs146393749
|
0.00039
|
|
NM_005378.6(MYCN):c.18G>A (p.Thr6=)
|
rs199929021
|
0.00039
|
|
NM_006514.4(SCN10A):c.1430C>T (p.Pro477Leu)
|
rs142235256
|
0.00039
|
|
NM_006662.3(SRCAP):c.8676T>G (p.Ala2892=)
|
rs140675498
|
0.00039
|
|
NM_012120.3(CD2AP):c.636A>T (p.Arg212=)
|
rs146010044
|
0.00039
|
|
NM_014714.4(IFT140):c.3661-18C>T
|
rs575501010
|
0.00039
|
|
NM_015102.5(NPHP4):c.117C>T (p.Asp39=)
|
rs368118106
|
0.00039
|
|
NM_016335.6(PRODH):c.1170C>T (p.Ile390=)
|
rs552700874
|
0.00039
|
|
NM_022089.4(ATP13A2):c.3087C>T (p.Phe1029=)
|
rs184878897
|
0.00039
|
|
NM_024009.3(GJB3):c.580G>A (p.Ala194Thr)
|
rs117385606
|
0.00039
|
|
NM_024685.4(BBS10):c.957T>C (p.Val319=)
|
rs139645096
|
0.00039
|
|
NM_030761.5(WNT4):c.96G>A (p.Ser32=)
|
rs144407094
|
0.00039
|
|
NM_033022.4(RPS24):c.378T>G (p.Gly126=)
|
rs151246531
|
0.00039
|
|
NM_145239.3(PRRT2):c.644C>G (p.Pro215Arg)
|
rs200926711
|
0.00039
|
|
NM_175914.5(HNF4A):c.921C>T (p.Asp307=)
|
rs151168174
|
0.00039
|
|
NM_181486.4(TBX5):c.354T>C (p.Asp118=)
|
rs151249768
|
0.00039
|
|
NM_182961.4(SYNE1):c.12411C>T (p.His4137=)
|
rs751325537
|
0.00039
|
|
NM_198282.4(STING1):c.760-9C>A
|
rs200232916
|
0.00039
|
|
NM_207122.2(EXT2):c.1527A>G (p.Leu509=)
|
rs145649534
|
0.00039
|
|
NM_207361.6(FREM2):c.2538C>A (p.Ile846=)
|
rs377627650
|
0.00039
|
|
NM_207361.6(FREM2):c.4581C>T (p.Ser1527=)
|
rs114925418
|
0.00039
|
|
NM_000069.3(CACNA1S):c.4521C>T (p.Asp1507=)
|
rs150962971
|
0.00038
|
|
NM_000186.4(CFH):c.245-8C>T
|
rs537160602
|
0.00038
|
|
NM_000217.3(KCNA1):c.1125C>T (p.Tyr375=)
|
rs144351014
|
0.00038
|
|
NM_000292.3(PHKA2):c.1670C>G (p.Thr557Arg)
|
rs201183167
|
0.00038
|
|
NM_000525.4(KCNJ11):c.852C>A (p.Ile284=)
|
rs1800854
|
0.00038
|
|
NM_000529.2(MC2R):c.754G>A (p.Ala252Thr)
|
rs554966392
|
0.00038
|
|
NM_001018113.3(FANCB):c.1393T>C (p.Ser465Pro)
|
rs143976596
|
0.00038
|
|
NM_001123385.2(BCOR):c.482C>T (p.Ala161Val)
|
rs142236686
|
0.00038
|
|
NM_001303.4(COX10):c.535T>C (p.Leu179=)
|
rs143593847
|
0.00038
|
|
NM_001366722.1(GRIP1):c.2886G>A (p.Pro962=)
|
rs375330927
|
0.00038
|
|
NM_001378969.1(KCND3):c.1131G>T (p.Thr377=)
|
rs148428571
|
0.00038
|
|
NM_001807.6(CEL):c.777+7G>A
|
rs200749469
|
0.00038
|
|
NM_002473.6(MYH9):c.5765+9C>T
|
rs201008102
|
0.00038
|
|
NM_002968.3(SALL1):c.3120A>G (p.Thr1040=)
|
rs146655918
|
0.00038
|
|
NM_003640.5(ELP1):c.909C>G (p.Val303=)
|
rs142420285
|
0.00038
|
|
NM_004380.3(CREBBP):c.4119C>T (p.Pro1373=)
|
rs3025679
|
0.00038
|
|
NM_005629.4(SLC6A8):c.1496-8C>T
|
rs376038235
|
0.00038
|
|
NM_006268.5(DPF2):c.302-11C>T
|
rs373181445
|
0.00038
|
|
NM_006662.3(SRCAP):c.9562C>T (p.Arg3188Cys)
|
rs201133838
|
0.00038
|
|
NM_007118.4(TRIO):c.9178G>A (p.Val3060Ile)
|
rs149252703
|
0.00038
|
|
NM_012120.3(CD2AP):c.1696C>T (p.Pro566Ser)
|
rs372234258
|
0.00038
|
|
NM_015443.4(KANSL1):c.635A>G (p.His212Arg)
|
rs141110759
|
0.00038
|
|
NM_021098.3(CACNA1H):c.2146G>A (p.Gly716Ser)
|
rs187225648
|
0.00038
|
|
NM_021098.3(CACNA1H):c.6579G>A (p.Ser2193=)
|
rs200017975
|
0.00038
|
|
NM_022489.4(INF2):c.1773C>T (p.Asp591=)
|
rs201853087
|
0.00038
|
|
NM_022489.4(INF2):c.2181G>A (p.Ala727=)
|
rs370830904
|
0.00038
|
|
NM_030943.4(AMN):c.735C>T (p.Pro245=)
|
rs546245909
|
0.00038
|
|
NM_032551.5(KISS1R):c.18G>A (p.Thr6=)
|
rs755924784
|
0.00038
|
|
NM_198578.4(LRRK2):c.2481T>C (p.Ser827=)
|
rs76890302
|
0.00038
|
|
NM_000593.6(TAP1):c.1927C>T (p.Leu643=)
|
rs41559815
|
0.00037
|
|
NM_000789.4(ACE):c.3363T>C (p.Ser1121=)
|
rs200201337
|
0.00037
|
|
NM_000890.5(KCNJ5):c.273C>T (p.Leu91=)
|
rs146853795
|
0.00037
|
|
NM_000890.5(KCNJ5):c.744G>A (p.Glu248=)
|
rs144040058
|
0.00037
|
|
NM_000944.5(PPP3CA):c.384+18C>T
|
rs3730253
|
0.00037
|
|
NM_001009944.3(PKD1):c.5577T>C (p.Ala1859=)
|
rs140662778
|
0.00037
|
|
NM_001375978.1(CHRM3):c.328C>T (p.Leu110=)
|
rs111407169
|
0.00037
|
|
NM_003647.3(DGKE):c.744+17A>T
|
rs375002513
|
0.00037
|
|
NM_003738.5(PTCH2):c.1780G>A (p.Ala594Thr)
|
rs147669300
|
0.00037
|
|
NM_005506.4(SCARB2):c.567T>C (p.His189=)
|
rs141208366
|
0.00037
|
|
NM_005982.4(SIX1):c.615T>G (p.Pro205=)
|
rs148433316
|
0.00037
|
|
NM_014140.4(SMARCAL1):c.1851+14C>G
|
rs369856866
|
0.00037
|
|
NM_015443.4(KANSL1):c.3170A>G (p.Gln1057Arg)
|
rs201083879
|
0.00037
|
|
NM_015570.4(AUTS2):c.2397G>A (p.Thr799=)
|
rs140914046
|
0.00037
|
|
NM_016335.6(PRODH):c.1104+16C>T
|
rs182795102
|
0.00037
|
|
NM_032901.4(COX14):c.-8-14A>G
|
rs200753288
|
0.00037
|
|
NM_144997.7(FLCN):c.619-20C>T
|
rs202217257
|
0.00037
|
|
NM_177924.5(ASAH1):c.1041+19C>A
|
rs17126194
|
0.00037
|
|
NM_198428.3(BBS9):c.2322C>T (p.Ala774=)
|
rs145435891
|
0.00037
|
|
NM_000030.3(AGXT):c.424-4T>C
|
rs369523966
|
0.00036
|
|
NM_000030.3(AGXT):c.777-17C>A
|
rs112319664
|
0.00036
|
|
NM_000122.2(ERCC3):c.1730+16T>G
|
rs202086538
|
0.00036
|
|
NM_000136.3(FANCC):c.457-18A>G
|
rs377206543
|
0.00036
|
|
NM_000151.4(G6PC1):c.558G>T (p.Leu186=)
|
rs141376085
|
0.00036
|
|
NM_000204.5(CFI):c.319A>G (p.Thr107Ala)
|
rs201419000
|
0.00036
|
|
NM_000254.3(MTR):c.3712-7T>G
|
rs151081130
|
0.00036
|
|
NM_000297.4(PKD2):c.1082G>A (p.Arg361Gln)
|
rs753359659
|
0.00036
|
|
NM_000361.3(THBD):c.1208G>A (p.Arg403Lys)
|
rs41400249
|
0.00036
|
|
NM_000431.4(MVK):c.371+20A>G
|
rs142078694
|
0.00036
|
|
NM_001012339.3(DNAJC21):c.821G>A (p.Arg274Gln)
|
rs77129269
|
0.00036
|
|
NM_001081550.2(THOC2):c.1261G>A (p.Ala421Thr)
|
rs145905162
|
0.00036
|
|
NM_001099922.3(ALG13):c.1729+14A>G
|
rs763484848
|
0.00036
|
|
NM_001113378.2(FANCI):c.1992+10T>C
|
rs375345390
|
0.00036
|
|
NM_001148.6(ANK2):c.2727T>A (p.Thr909=)
|
rs144548535
|
0.00036
|
|
NM_001371623.1(TCOF1):c.2842G>T (p.Ala948Ser)
|
rs181102251
|
0.00036
|
|
NM_001374353.1(GLI2):c.4530T>C (p.Gly1510=)
|
rs144700510
|
0.00036
|
|
NM_001451.3(FOXF1):c.895C>A (p.Pro299Thr)
|
rs8061302
|
0.00036
|
|
NM_001942.4(DSG1):c.1615T>G (p.Leu539Val)
|
rs140327039
|
0.00036
|
|
NM_002025.4(AFF2):c.2780G>A (p.Arg927His)
|
rs140927355
|
0.00036
|
|
NM_002437.5(MPV17):c.180C>A (p.Gly60=)
|
rs377148388
|
0.00036
|
|
NM_004006.3(DMD):c.3163-18T>C
|
rs72468662
|
0.00036
|
|
NM_004960.4(FUS):c.336-19_336-18insG
|
rs146048051
|
0.00036
|
|
NM_005251.3(FOXC2):c.1364A>G (p.Asn455Ser)
|
rs138612549
|
0.00036
|
|
NM_006073.4(TRDN):c.367G>A (p.Asp123Asn)
|
rs201021891
|
0.00036
|
|
NM_007214.5(SEC63):c.230T>C (p.Ile77Thr)
|
rs140251976
|
0.00036
|
|
NM_014780.5(CUL7):c.1542G>T (p.Gln514His)
|
rs146808129
|
0.00036
|
|
NM_015102.5(NPHP4):c.1623G>T (p.Pro541=)
|
rs375796182
|
0.00036
|
|
NM_015158.5(KANK1):c.561T>C (p.Phe187=)
|
rs139983081
|
0.00036
|
|
NM_016335.6(PRODH):c.1465G>A (p.Ala489Thr)
|
rs370003523
|
0.00036
|
|
NM_021098.3(CACNA1H):c.2151G>A (p.Ser717=)
|
rs200423899
|
0.00036
|
|
NM_022455.5(NSD1):c.4379-15A>G
|
rs143520065
|
0.00036
|
|
NM_024334.3(TMEM43):c.777C>T (p.His259=)
|
rs143958148
|
0.00036
|
|
NM_024529.5(CDC73):c.873C>T (p.Asn291=)
|
rs149400412
|
0.00036
|
|
NM_033004.4(NLRP1):c.272-7C>G
|
rs202080927
|
0.00036
|
|
NM_052989.3(IFT122):c.2625C>T (p.Asn875=)
|
rs76572254
|
0.00036
|
|
NM_170606.3(KMT2C):c.2702T>C (p.Leu901Pro)
|
rs370313067
|
0.00036
|
|
NM_173551.5(ANKS6):c.1219+18A>T
|
rs372791631
|
0.00036
|
|
NM_000091.5(COL4A3):c.2489-18T>A
|
rs79573480
|
0.00035
|
|
NM_000135.4(FANCA):c.543G>A (p.Ala181=)
|
rs143314367
|
0.00035
|
|
NM_000141.5(FGFR2):c.2232C>T (p.Pro744=)
|
rs142639988
|
0.00035
|
|
NM_000342.4(SLC4A1):c.1272C>T (p.Gly424=)
|
rs148115666
|
0.00035
|
|
NM_000352.6(ABCC8):c.2390+17G>C
|
rs200705248
|
0.00035
|
|
NM_001009944.3(PKD1):c.4810G>A (p.Val1604Met)
|
rs191685707
|
0.00035
|
|
NM_001009944.3(PKD1):c.5783C>G (p.Pro1928Arg)
|
rs201991587
|
0.00035
|
|
NM_001081.4(CUBN):c.7533+17G>A
|
rs374394291
|
0.00035
|
|
NM_001130823.3(DNMT1):c.1224C>T (p.Asn408=)
|
rs199584370
|
0.00035
|
|
NM_001134831.2(AHI1):c.2418G>A (p.Leu806=)
|
rs201235386
|
0.00035
|
|
NM_001177316.2(SLC34A3):c.1197C>G (p.Val399=)
|
rs201720181
|
0.00035
|
|
NM_001384732.1(CPLANE1):c.7275G>A (p.Ala2425=)
|
rs137899908
|
0.00035
|
|
NM_001429.4(EP300):c.6951G>A (p.Arg2317=)
|
rs139551099
|
0.00035
|
|
NM_002661.5(PLCG2):c.1959C>T (p.Arg653=)
|
rs117835631
|
0.00035
|
|
NM_002764.4(PRPS1):c.573G>A (p.Leu191=)
|
rs770518315
|
0.00035
|
|
NM_003356.4(UCP3):c.356G>A (p.Arg119Gln)
|
rs17848372
|
0.00035
|
|
NM_003664.5(AP3B1):c.279+16A>G
|
rs199804239
|
0.00035
|
|
NM_003982.4(SLC7A7):c.543C>G (p.Thr181=)
|
rs145777568
|
0.00035
|
|
NM_004621.6(TRPC6):c.948T>C (p.Asn316=)
|
rs139477687
|
0.00035
|
|
NM_004924.6(ACTN4):c.2191-5C>T
|
rs186662077
|
0.00035
|
|
NM_006922.4(SCN3A):c.5232A>G (p.Pro1744=)
|
rs144587694
|
0.00035
|
|
NM_012330.4(KAT6B):c.3729G>C (p.Lys1243Asn)
|
rs550048327
|
0.00035
|
|
NM_012431.3(SEMA3E):c.1174G>A (p.Gly392Arg)
|
rs181129823
|
0.00035
|
|
NM_012431.3(SEMA3E):c.15G>A (p.Gly5=)
|
rs140094033
|
0.00035
|
|
NM_014714.4(IFT140):c.1359+20G>A
|
rs374488263
|
0.00035
|
|
NM_015158.5(KANK1):c.3057C>T (p.Ser1019=)
|
rs143617877
|
0.00035
|
|
NM_017662.5(TRPM6):c.4719G>A (p.Ala1573=)
|
rs41304234
|
0.00035
|
|
NM_017780.4(CHD7):c.1666-15A>G
|
rs372978951
|
0.00035
|
|
NM_018417.6(ADCY10):c.2406G>A (p.Leu802=)
|
rs201086008
|
0.00035
|
|
NM_020975.6(RET):c.2939+13T>C
|
rs149417158
|
0.00035
|
|
NM_024675.4(PALB2):c.1470C>T (p.Pro490=)
|
rs45612837
|
0.00035
|
|
NM_170784.3(MKKS):c.231G>A (p.Leu77=)
|
rs373913834
|
0.00035
|
|
NM_173551.5(ANKS6):c.2143-15T>C
|
rs376048873
|
0.00035
|
|
NM_198578.4(LRRK2):c.7429C>T (p.Arg2477Trp)
|
rs138780308
|
0.00035
|
|
NM_000067.3(CA2):c.139C>T (p.Leu47=)
|
rs145096347
|
0.00034
|
|
NM_000067.3(CA2):c.549C>G (p.Leu183=)
|
rs151021025
|
0.00034
|
|
NM_000152.5(GAA):c.1754+11C>T
|
rs371644603
|
0.00034
|
|
NM_000204.5(CFI):c.429C>T (p.Ser143=)
|
rs112492491
|
0.00034
|
|
NM_000210.4(ITGA6):c.201G>A (p.Pro67=)
|
rs143545213
|
0.00034
|
|
NM_000243.3(MEFV):c.1344A>C (p.Ala448=)
|
rs143337771
|
0.00034
|
|
NM_000316.3(PTH1R):c.375G>A (p.Glu125=)
|
rs138339848
|
0.00034
|
|
NM_000388.4(CASR):c.2824G>A (p.Glu942Lys)
|
rs76327999
|
0.00034
|
|
NM_000444.6(PHEX):c.996C>T (p.Asp332=)
|
rs139749399
|
0.00034
|
|
NM_000497.4(CYP11B1):c.294G>A (p.Glu98=)
|
rs143211108
|
0.00034
|
|
NM_000789.4(ACE):c.177G>A (p.Gln59=)
|
rs147912715
|
0.00034
|
|
NM_000890.5(KCNJ5):c.825C>A (p.Ile275=)
|
rs113012271
|
0.00034
|
|
NM_001003841.3(SLC6A19):c.481+12C>G
|
rs370624507
|
0.00034
|
|
NM_001003841.3(SLC6A19):c.48G>A (p.Pro16=)
|
rs141911612
|
0.00034
|
|
NM_001003841.3(SLC6A19):c.887+8C>T
|
rs375506845
|
0.00034
|
|
NM_001009944.3(PKD1):c.10434C>T (p.Ala3478=)
|
rs373880615
|
0.00034
|
|
NM_001013838.3(CARMIL2):c.1509+14C>A
|
rs200523413
|
0.00034
|
|
NM_001018115.3(FANCD2):c.246C>T (p.Thr82=)
|
rs371915501
|
0.00034
|
|
NM_001099274.3(TINF2):c.734C>A (p.Ser245Tyr)
|
rs142777869
|
0.00034
|
|
NM_001110792.2(MECP2):c.623C>G (p.Thr208Ser)
|
rs61749713
|
0.00034
|
|
NM_001110792.2(MECP2):c.978C>T (p.Ile326=)
|
rs61751446
|
0.00034
|
|
NM_001113378.2(FANCI):c.2291+12C>G
|
rs369540539
|
0.00034
|
|
NM_001127222.2(CACNA1A):c.1199-17G>C
|
rs190836274
|
0.00034
|
|
NM_001171.6(ABCC6):c.3507-15C>T
|
rs374776435
|
0.00034
|
|
NM_001282225.2(ADA2):c.1423C>T (p.Leu475=)
|
rs138076444
|
0.00034
|
|
NM_001371596.2(MFSD8):c.1311C>G (p.Ser437=)
|
rs145453022
|
0.00034
|
|
NM_001555.5(IGSF1):c.1141A>C (p.Asn381His)
|
rs6637826
|
0.00034
|
|
NM_001845.6(COL4A1):c.3774T>C (p.Leu1258=)
|
rs139578640
|
0.00034
|
|
NM_002204.4(ITGA3):c.1537+16C>T
|
rs368911903
|
0.00034
|
|
NM_004268.5(MED17):c.1328+16G>A
|
rs200391569
|
0.00034
|
|
NM_004525.3(LRP2):c.9069C>T (p.Asp3023=)
|
rs148612649
|
0.00034
|
|
NM_004924.6(ACTN4):c.1515C>T (p.Leu505=)
|
rs147922933
|
0.00034
|
|
NM_004998.4(MYO1E):c.2335-13C>T
|
rs775751894
|
0.00034
|
|
NM_005751.5(AKAP9):c.4163C>T (p.Ser1388Leu)
|
rs143565222
|
0.00034
|
|
NM_006662.3(SRCAP):c.8515G>A (p.Gly2839Ser)
|
rs139886717
|
0.00034
|
|
NM_007294.4(BRCA1):c.1456T>C (p.Phe486Leu)
|
rs55906931
|
0.00034
|
|
NM_012330.4(KAT6B):c.2374-10T>C
|
rs376833457
|
0.00034
|
|
NM_014625.4(NPHS2):c.534+13A>T
|
rs192539858
|
0.00034
|
|
NM_015100.4(POGZ):c.747C>T (p.Thr249=)
|
rs148175159
|
0.00034
|
|
NM_015102.5(NPHP4):c.1431G>A (p.Thr477=)
|
rs200183657
|
0.00034
|
|
NM_015158.5(KANK1):c.3005+9A>T
|
rs184585076
|
0.00034
|
|
NM_017534.6(MYH2):c.2304+7T>G
|
rs370223713
|
0.00034
|
|
NM_017534.6(MYH2):c.3582A>G (p.Thr1194=)
|
rs200505060
|
0.00034
|
|
NM_017649.5(CNNM2):c.604G>A (p.Ala202Thr)
|
rs75800852
|
0.00034
|
|
NM_017662.5(TRPM6):c.5481C>T (p.Cys1827=)
|
rs150963618
|
0.00034
|
|
NM_017668.3(NDE1):c.948-2788A>G
|
rs118072250
|
0.00034
|
|
NM_018417.6(ADCY10):c.3429T>C (p.Asn1143=)
|
rs149920420
|
0.00034
|
|
NM_020822.3(KCNT1):c.3681C>T (p.Pro1227=)
|
rs149049198
|
0.00034
|
|
NM_021098.3(CACNA1H):c.3925G>A (p.Val1309Ile)
|
rs201352768
|
0.00034
|
|
NM_021828.5(HPSE2):c.1099-9T>C
|
rs376566722
|
0.00034
|
|
NM_023110.3(FGFR1):c.1398C>T (p.Pro466=)
|
rs150652786
|
0.00034
|
|
NM_024422.6(DSC2):c.174T>C (p.Phe58=)
|
rs150792047
|
0.00034
|
|
NM_030787.4(CFHR5):c.465T>C (p.Asn155=)
|
rs139260377
|
0.00034
|
|
NM_032119.4(ADGRV1):c.208-4A>G
|
rs374070113
|
0.00034
|
|
NM_033028.5(BBS4):c.24+18C>G
|
rs368789560
|
0.00034
|
|
NM_147127.5(EVC2):c.2310G>T (p.Trp770Cys)
|
rs572056540
|
0.00034
|
|
NM_176824.3(BBS7):c.165+16T>C
|
rs371497491
|
0.00034
|
|
NM_182916.3(TRNT1):c.343-14G>A
|
rs373630283
|
0.00034
|
|
NM_198252.3(GSN):c.197-4G>A
|
rs375172023
|
0.00034
|
|
NM_212482.4(FN1):c.1676-9G>A
|
rs372339259
|
0.00034
|
|
NM_000368.5(TSC1):c.1079C>A (p.Thr360Asn)
|
rs118203493
|
0.00033
|
|
NM_000785.4(CYP27B1):c.1216-18T>G
|
rs188819808
|
0.00033
|
|
NM_001005498.4(RHBDF2):c.213G>A (p.Glu71=)
|
rs146553433
|
0.00033
|
|
NM_001009944.3(PKD1):c.8118C>T (p.Thr2706=)
|
rs375408086
|
0.00033
|
|
NM_001041.4(SI):c.4268-12G>C
|
rs200234624
|
0.00033
|
|
NM_001102564.3(IFT43):c.516C>T (p.Val172=)
|
rs372647793
|
0.00033
|
|
NM_001128178.3(NPHP1):c.836C>T (p.Thr279Met)
|
rs200201945
|
0.00033
|
|
NM_001171.6(ABCC6):c.4278C>T (p.Asp1426=)
|
rs376210462
|
0.00033
|
|
NM_001256071.3(RNF213):c.12648G>A (p.Glu4216=)
|
rs146731742
|
0.00033
|
|
NM_001369.3(DNAH5):c.894C>G (p.Asn298Lys)
|
rs116995413
|
0.00033
|
|
NM_001379081.2(FREM1):c.6279A>G (p.Val2093=)
|
rs373107801
|
0.00033
|
|
NM_002661.5(PLCG2):c.1419C>T (p.Asp473=)
|
rs372678135
|
0.00033
|
|
NM_004606.5(TAF1):c.4698G>A (p.Arg1566=)
|
rs148007434
|
0.00033
|
|
NM_004826.4(ECEL1):c.411C>T (p.Arg137=)
|
rs376256094
|
0.00033
|
|
NM_004836.7(EIF2AK3):c.402C>T (p.Ser134=)
|
rs377401079
|
0.00033
|
|
NM_004924.6(ACTN4):c.2679C>T (p.Pro893=)
|
rs146493523
|
0.00033
|
|
NM_006073.4(TRDN):c.1472-13C>T
|
rs367962513
|
0.00033
|
|
NM_006662.3(SRCAP):c.492+11C>T
|
rs192794742
|
0.00033
|
|
NM_012463.4(ATP6V0A2):c.1327-16G>A
|
rs149092701
|
0.00033
|
|
NM_017780.4(CHD7):c.1188G>T (p.Met396Ile)
|
rs201653177
|
0.00033
|
|
NM_018979.4(WNK1):c.3699G>A (p.Ala1233=)
|
rs147752204
|
0.00033
|
|
NM_020436.5(SALL4):c.2835C>T (p.Asp945=)
|
rs143702441
|
0.00033
|
|
NM_021098.3(CACNA1H):c.3846-16G>A
|
rs764918796
|
0.00033
|
|
NM_032382.5(COG8):c.1741C>A (p.Pro581Thr)
|
rs548002506
|
0.00033
|
|
NM_032387.5(WNK4):c.1572G>T (p.Leu524=)
|
rs144084546
|
0.00033
|
|
NM_033087.4(ALG2):c.167C>T (p.Pro56Leu)
|
rs201959100
|
0.00033
|
|
NM_033550.4(TP53RK):c.433A>G (p.Thr145Ala)
|
rs56008408
|
0.00033
|
|
NM_170606.3(KMT2C):c.5171G>T (p.Ser1724Ile)
|
rs138819584
|
0.00033
|
|
NM_213606.4(SLC16A12):c.1217C>G (p.Ser406Cys)
|
rs145362501
|
0.00033
|
|
NM_000039.3(APOA1):c.315C>T (p.Gly105=)
|
rs148950234
|
0.00032
|
|
NM_000088.4(COL1A1):c.588+16G>A
|
rs191715075
|
0.00032
|
|
NM_000136.3(FANCC):c.-78-18T>G
|
rs560839822
|
0.00032
|
|
NM_000141.5(FGFR2):c.1986+7C>T
|
rs199697707
|
0.00032
|
|
NM_000213.5(ITGB4):c.1281G>A (p.Pro427=)
|
rs150638695
|
0.00032
|
|
NM_000334.4(SCN4A):c.1607-17T>C
|
rs202103551
|
0.00032
|
|
NM_000503.6(EYA1):c.966+4C>T
|
rs139429307
|
0.00032
|
|
NM_001009944.3(PKD1):c.951T>C (p.Ala317=)
|
rs540366995
|
0.00032
|
|
NM_001042492.3(NF1):c.1933A>G (p.Met645Val)
|
rs146051850
|
0.00032
|
|
NM_001081.4(CUBN):c.5424G>T (p.Val1808=)
|
rs148649437
|
0.00032
|
|
NM_001232.4(CASQ2):c.320-18C>T
|
rs376871374
|
0.00032
|
|
NM_001278116.2(L1CAM):c.2657G>A (p.Arg886Gln)
|
rs142603269
|
0.00032
|
|
NM_001292063.2(OTOG):c.4002C>T (p.Phe1334=)
|
rs545896255
|
0.00032
|
|
NM_001734.5(C1S):c.979G>C (p.Val327Leu)
|
rs2239170
|
0.00032
|
|
NM_002204.4(ITGA3):c.222C>T (p.Ala74=)
|
rs201984415
|
0.00032
|
|
NM_002335.4(LRP5):c.1248C>T (p.Asn416=)
|
rs149682423
|
0.00032
|
|
NM_002335.4(LRP5):c.2226C>T (p.Ile742=)
|
rs147932332
|
0.00032
|
|
NM_002661.5(PLCG2):c.3198+20C>G
|
rs141049260
|
0.00032
|
|
NM_004048.4(B2M):c.68-13C>T
|
rs149900092
|
0.00032
|
|
NM_004560.4(ROR2):c.721G>A (p.Ala241Thr)
|
rs141577636
|
0.00032
|
|
NM_004924.6(ACTN4):c.297G>A (p.Pro99=)
|
rs144919593
|
0.00032
|
|
NM_006383.4(CIB2):c.311G>A (p.Arg104Gln)
|
rs200697103
|
0.00032
|
|
NM_006662.3(SRCAP):c.7850C>T (p.Pro2617Leu)
|
rs201670251
|
0.00032
|
|
NM_006662.3(SRCAP):c.8406C>T (p.Ser2802=)
|
rs147473528
|
0.00032
|
|
NM_007294.4(BRCA1):c.1036C>T (p.Pro346Ser)
|
rs80357015
|
0.00032
|
|
NM_015443.4(KANSL1):c.2698G>A (p.Gly900Arg)
|
rs74867664
|
0.00032
|
|
NM_015910.7(WDPCP):c.1916-18A>G
|
rs201068492
|
0.00032
|
|
NM_022455.5(NSD1):c.639C>T (p.Ser213=)
|
rs755931458
|
0.00032
|
|
NM_022489.4(INF2):c.2775+20C>A
|
rs532636302
|
0.00032
|
|
NM_024685.4(BBS10):c.474G>T (p.Ser158=)
|
rs375436323
|
0.00032
|
|
NM_033380.3(COL4A5):c.3312T>C (p.Gly1104=)
|
rs140829723
|
0.00032
|
|
NM_000059.4(BRCA2):c.5785A>G (p.Ile1929Val)
|
rs79538375
|
0.00031
|
|
NM_000081.4(LYST):c.6782G>A (p.Arg2261His)
|
rs147791378
|
0.00031
|
|
NM_000168.6(GLI3):c.211G>A (p.Val71Ile)
|
rs143843875
|
0.00031
|
|
NM_000342.4(SLC4A1):c.486-18C>T
|
rs201023917
|
0.00031
|
|
NM_000447.3(PSEN2):c.520A>G (p.Met174Val)
|
rs61757781
|
0.00031
|
|
NM_000479.5(AMH):c.808C>T (p.Pro270Ser)
|
rs757506343
|
0.00031
|
|
NM_000488.4(SERPINC1):c.1005G>A (p.Val335=)
|
rs192187532
|
0.00031
|
|
NM_000685.5(AGTR1):c.1017C>T (p.Tyr339=)
|
rs138545856
|
0.00031
|
|
NM_000781.3(CYP11A1):c.1290C>T (p.Phe430=)
|
rs147405344
|
0.00031
|
|
NM_000901.5(NR3C2):c.1398T>C (p.Tyr466=)
|
rs5524
|
0.00031
|
|
NM_001001433.3(STX16):c.442C>T (p.Arg148Trp)
|
rs141068956
|
0.00031
|
|
NM_001009944.3(PKD1):c.12270C>G (p.Leu4090=)
|
rs141132307
|
0.00031
|
|
NM_001040108.2(MLH3):c.4011+15T>G
|
rs139032600
|
0.00031
|
|
NM_001081.4(CUBN):c.9705G>A (p.Thr3235=)
|
rs370784621
|
0.00031
|
|
NM_001369.3(DNAH5):c.1631C>T (p.Thr544Ile)
|
rs118026202
|
0.00031
|
|
NM_001370466.1(NOD2):c.2295C>T (p.Pro765=)
|
rs5743280
|
0.00031
|
|
NM_001371986.1(UNC80):c.6758T>C (p.Met2253Thr)
|
rs528391043
|
0.00031
|
|
NM_001371986.1(UNC80):c.9504G>A (p.Pro3168=)
|
rs376511864
|
0.00031
|
|
NM_001378454.1(ALMS1):c.1338+19A>G
|
rs145633676
|
0.00031
|
|
NM_001384732.1(CPLANE1):c.3150-12A>G
|
rs755478099
|
0.00031
|
|
NM_001384732.1(CPLANE1):c.6443A>G (p.Asn2148Ser)
|
rs150999024
|
0.00031
|
|
NM_001458.5(FLNC):c.5070C>T (p.Leu1690=)
|
rs202027738
|
0.00031
|
|
NM_002016.2(FLG):c.2067T>C (p.Ser689=)
|
rs138782580
|
0.00031
|
|
NM_002049.4(GATA1):c.174G>A (p.Ala58=)
|
rs139614533
|
0.00031
|
|
NM_002246.3(KCNK3):c.1014G>A (p.Thr338=)
|
rs375930383
|
0.00031
|
|
NM_002335.4(LRP5):c.2503+10G>A
|
rs191125304
|
0.00031
|
|
NM_002351.5(SH2D1A):c.346+3A>G
|
rs199706936
|
0.00031
|
|
NM_002473.6(MYH9):c.2500-14A>G
|
rs199505086
|
0.00031
|
|
NM_003356.4(UCP3):c.72C>T (p.Ala24=)
|
rs70965455
|
0.00031
|
|
NM_004181.5(UCHL1):c.609A>G (p.Glu203=)
|
rs147661219
|
0.00031
|
|
NM_004380.3(CREBBP):c.3982+9C>T
|
rs114668693
|
0.00031
|
|
NM_004525.3(LRP2):c.6057A>G (p.Ser2019=)
|
rs150970767
|
0.00031
|
|
NM_005982.4(SIX1):c.162G>A (p.Ala54=)
|
rs150550985
|
0.00031
|
|
NM_006031.6(PCNT):c.8835C>T (p.Asp2945=)
|
rs146875945
|
0.00031
|
|
NM_006258.4(PRKG1):c.1002-10C>T
|
rs374171830
|
0.00031
|
|
NM_006514.4(SCN10A):c.3291C>G (p.Ile1097Met)
|
rs148041371
|
0.00031
|
|
NM_006662.3(SRCAP):c.6501C>T (p.Ile2167=)
|
rs202092944
|
0.00031
|
|
NM_007294.4(BRCA1):c.3708T>G (p.Asn1236Lys)
|
rs28897687
|
0.00031
|
|
NM_014000.3(VCL):c.1626C>T (p.Leu542=)
|
rs150402791
|
0.00031
|
|
NM_014317.5(PDSS1):c.130-18T>C
|
rs375014698
|
0.00031
|
|
NM_014625.4(NPHS2):c.144C>T (p.Ser48=)
|
rs111306764
|
0.00031
|
|
NM_015102.5(NPHP4):c.2305-20C>T
|
rs373131898
|
0.00031
|
|
NM_015158.5(KANK1):c.3807G>A (p.Thr1269=)
|
rs143880438
|
0.00031
|
|
NM_016204.4(GDF2):c.776A>G (p.Asn259Ser)
|
rs140271276
|
0.00031
|
|
NM_018685.5(ANLN):c.173-16A>G
|
rs181560875
|
0.00031
|
|
NM_018979.4(WNK1):c.5510-13G>A
|
rs372263017
|
0.00031
|
|
NM_020433.5(JPH2):c.1566G>A (p.Arg522=)
|
rs559143345
|
0.00031
|
|
NM_020975.6(RET):c.1050C>T (p.Thr350=)
|
rs142188675
|
0.00031
|
|
NM_021098.3(CACNA1H):c.2269G>C (p.Gly757Arg)
|
rs200813987
|
0.00031
|
|
NM_021098.3(CACNA1H):c.3745-17G>A
|
rs201602467
|
0.00031
|
|
NM_021098.3(CACNA1H):c.6531C>T (p.Pro2177=)
|
rs368284672
|
0.00031
|
|
NM_021871.4(FGA):c.1199C>T (p.Ser400Phe)
|
rs184635235
|
0.00031
|
|
NM_025074.7(FRAS1):c.396G>A (p.Pro132=)
|
rs370747359
|
0.00031
|
|
NM_025074.7(FRAS1):c.7344C>T (p.Leu2448=)
|
rs201842464
|
0.00031
|
|
NM_030943.4(AMN):c.909C>T (p.Ala303=)
|
rs373382273
|
0.00031
|
|
NM_138413.4(HOGA1):c.603+19G>A
|
rs370990433
|
0.00031
|
|
NM_153603.4(COG7):c.1852G>A (p.Ala618Thr)
|
rs145412851
|
0.00031
|
|
NM_170784.3(MKKS):c.416G>A (p.Arg139Gln)
|
rs145045986
|
0.00031
|
|
NM_173551.5(ANKS6):c.498C>T (p.Ala166=)
|
rs374209515
|
0.00031
|
|
NM_177559.3(CSNK2A1):c.1061-9T>C
|
rs371565154
|
0.00031
|
|
NM_178857.6(RP1L1):c.954C>T (p.Asp318=)
|
rs200317816
|
0.00031
|
|
NM_198253.3(TERT):c.1932G>A (p.Thr644=)
|
rs148582238
|
0.00031
|
|
NM_206933.4(USH2A):c.9915G>C (p.Glu3305Asp)
|
rs145278250
|
0.00031
|
|
NM_212482.4(FN1):c.1860G>A (p.Pro620=)
|
rs147845471
|
0.00031
|
|
NM_000135.4(FANCA):c.1225+12C>T
|
rs200672872
|
0.00030
|
|
NM_000135.4(FANCA):c.1716-20T>C
|
rs367726674
|
0.00030
|
|
NM_000251.3(MSH2):c.1661+11C>T
|
rs377154011
|
0.00030
|
|
NM_000789.4(ACE):c.3691+10C>T
|
rs556274739
|
0.00030
|
|
NM_000969.5(RPL5):c.324+14G>T
|
rs200772479
|
0.00030
|
|
NM_001035.3(RYR2):c.1292+19G>A
|
rs368198276
|
0.00030
|
|
NM_001035.3(RYR2):c.9923A>G (p.Asn3308Ser)
|
rs201081663
|
0.00030
|
|
NM_001046.3(SLC12A2):c.1941A>G (p.Lys647=)
|
rs190573592
|
0.00030
|
|
NM_001081.4(CUBN):c.4701C>T (p.Tyr1567=)
|
rs113941731
|
0.00030
|
|
NM_001081.4(CUBN):c.7971A>G (p.Pro2657=)
|
rs140160866
|
0.00030
|
|
NM_001174147.2(LMX1B):c.1200C>T (p.Phe400=)
|
rs372183654
|
0.00030
|
|
NM_001267550.2(TTN):c.39057G>A (p.Pro13019=)
|
rs371945519
|
0.00030
|
|
NM_001378454.1(ALMS1):c.1161T>C (p.His387=)
|
rs191091347
|
0.00030
|
|
NM_001845.6(COL4A1):c.387+14C>T
|
rs190238481
|
0.00030
|
|
NM_002458.3(MUC5B):c.3926C>T (p.Thr1309Met)
|
rs200226020
|
0.00030
|
|
NM_002661.5(PLCG2):c.2739+8C>A
|
rs201659233
|
0.00030
|
|
NM_002834.5(PTPN11):c.643-6dup
|
rs758889732
|
0.00030
|
|
NM_004380.3(CREBBP):c.2616G>A (p.Thr872=)
|
rs781112420
|
0.00030
|
|
NM_004998.4(MYO1E):c.1065C>T (p.Leu355=)
|
rs146652440
|
0.00030
|
|
NM_005477.3(HCN4):c.561T>C (p.Ala187=)
|
rs375206856
|
0.00030
|
|
NM_006662.3(SRCAP):c.8373G>A (p.Pro2791=)
|
rs150187491
|
0.00030
|
|
NM_006662.3(SRCAP):c.8893C>T (p.Arg2965Trp)
|
rs141497857
|
0.00030
|
|
NM_012330.4(KAT6B):c.6162C>T (p.His2054=)
|
rs192237531
|
0.00030
|
|
NM_014140.4(SMARCAL1):c.1296C>T (p.Leu432=)
|
rs151159565
|
0.00030
|
|
NM_015158.5(KANK1):c.3554-5_3554-4insTA
|
rs1554721659
|
0.00030
|
|
NM_015158.5(KANK1):c.9C>T (p.His3=)
|
rs144137079
|
0.00030
|
|
NM_015272.5(RPGRIP1L):c.3249T>C (p.Ser1083=)
|
rs11860753
|
0.00030
|
|
NM_015272.5(RPGRIP1L):c.3702-16A>G
|
rs372739127
|
0.00030
|
|
NM_016356.5(DCDC2):c.478A>C (p.Arg160=)
|
rs201204772
|
0.00030
|
|
NM_017565.4(FAM20A):c.513T>C (p.His171=)
|
rs181817943
|
0.00030
|
|
NM_021098.3(CACNA1H):c.4566+18G>A
|
rs376034289
|
0.00030
|
|
NM_022489.4(INF2):c.1632T>C (p.His544=)
|
rs374940901
|
0.00030
|
|
NM_032387.5(WNK4):c.47C>T (p.Thr16Ile)
|
rs61754325
|
0.00030
|
|
NM_032436.4(CHAMP1):c.926C>T (p.Pro309Leu)
|
rs142271038
|
0.00030
|
|
NM_000057.4(BLM):c.2115T>C (p.Val705=)
|
rs142787700
|
0.00029
|
|
NM_000092.5(COL4A4):c.3666T>C (p.Pro1222=)
|
rs372838090
|
0.00029
|
|
NM_000186.4(CFH):c.3172T>C (p.Tyr1058His)
|
rs55679475
|
0.00029
|
|
NM_000186.4(CFH):c.3178G>C (p.Val1060Leu)
|
rs55771831
|
0.00029
|
|
NM_000213.5(ITGB4):c.2070C>T (p.Gly690=)
|
rs140265734
|
0.00029
|
|
NM_000213.5(ITGB4):c.2503C>G (p.Pro835Ala)
|
rs183705877
|
0.00029
|
|
NM_000238.4(KCNH2):c.3063C>T (p.Ser1021=)
|
rs199767579
|
0.00029
|
|
NM_000243.3(MEFV):c.231C>A (p.Ile77=)
|
rs139899201
|
0.00029
|
|
NM_000258.3(MYL3):c.307+16G>A
|
rs759754750
|
0.00029
|
|
NM_000377.3(WAS):c.873C>T (p.Tyr291=)
|
rs149123892
|
0.00029
|
|
NM_000414.4(HSD17B4):c.1261+14A>G
|
rs371682983
|
0.00029
|
|
NM_000431.4(MVK):c.-14-17T>C
|
rs186232847
|
0.00029
|
|
NM_001002295.2(GATA3):c.375C>T (p.Gly125=)
|
rs142451494
|
0.00029
|
|
NM_001008388.5(CISD2):c.240G>A (p.Pro80=)
|
rs375529885
|
0.00029
|
|
NM_001009944.3(PKD1):c.10221-14C>T
|
rs201207354
|
0.00029
|
|
NM_001018115.3(FANCD2):c.2256T>A (p.Ile752=)
|
rs373461068
|
0.00029
|
|
NM_001023570.4(IQCB1):c.987-17C>T
|
rs187649158
|
0.00029
|
|
NM_001130438.3(SPTAN1):c.7319G>A (p.Arg2440Gln)
|
rs141980692
|
0.00029
|
|
NM_001134831.2(AHI1):c.1270A>G (p.Ile424Val)
|
rs562905902
|
0.00029
|
|
NM_001136193.2(FASTKD2):c.192T>C (p.Phe64=)
|
rs150457139
|
0.00029
|
|
NM_001195263.2(PDZD7):c.1629G>A (p.Gln543=)
|
rs192668758
|
0.00029
|
|
NM_001197104.2(KMT2A):c.8697A>G (p.Val2899=)
|
rs139469741
|
0.00029
|
|
NM_001243133.2(NLRP3):c.1401C>T (p.Leu467=)
|
rs141637807
|
0.00029
|
|
NM_001354483.2(CSGALNACT1):c.397G>A (p.Val133Met)
|
rs377493563
|
0.00029
|
|
NM_001378454.1(ALMS1):c.9781+19del
|
rs751238172
|
0.00029
|
|
NM_001429.4(EP300):c.6481A>G (p.Met2161Val)
|
rs188035979
|
0.00029
|
|
NM_001735.3(C5):c.1929C>G (p.Ala643=)
|
rs56371452
|
0.00029
|
|
NM_001845.6(COL4A1):c.477A>T (p.Pro159=)
|
rs141067230
|
0.00029
|
|
NM_001853.4(COL9A3):c.346-19C>T
|
rs199940406
|
0.00029
|
|
NM_002230.4(JUP):c.459C>T (p.Asp153=)
|
rs376289528
|
0.00029
|
|
NM_002473.6(MYH9):c.3195C>A (p.Ala1065=)
|
rs148781875
|
0.00029
|
|
NM_002661.5(PLCG2):c.2655G>A (p.Pro885=)
|
rs187441573
|
0.00029
|
|
NM_003070.5(SMARCA2):c.246C>T (p.Asp82=)
|
rs181403075
|
0.00029
|
|
NM_003070.5(SMARCA2):c.4595-7G>C
|
rs199897032
|
0.00029
|
|
NM_003200.5(TCF3):c.1564A>C (p.Lys522Gln)
|
rs201831565
|
0.00029
|
|
NM_003242.6(TGFBR2):c.263+17A>C
|
rs34771516
|
0.00029
|
|
NM_003721.4(RFXANK):c.188-11C>T
|
rs201545133
|
0.00029
|
|
NM_004082.5(DCTN1):c.2805C>G (p.Ile935Met)
|
rs145130328
|
0.00029
|
|
NM_004525.3(LRP2):c.80-13T>C
|
rs201879092
|
0.00029
|
|
NM_004606.5(TAF1):c.4754-4A>G
|
rs370696191
|
0.00029
|
|
NM_004621.6(TRPC6):c.253_264dup (p.Ala85_Phe88dup)
|
rs778276152
|
0.00029
|
|
NM_004621.6(TRPC6):c.888G>A (p.Thr296=)
|
rs144891994
|
0.00029
|
|
NM_006642.5(SDCCAG8):c.2112+17G>A
|
rs754713552
|
0.00029
|
|
NM_006772.3(SYNGAP1):c.102C>T (p.Tyr34=)
|
rs147913000
|
0.00029
|
|
NM_007294.4(BRCA1):c.1648A>C (p.Asn550His)
|
rs56012641
|
0.00029
|
|
NM_007294.4(BRCA1):c.536A>G (p.Tyr179Cys)
|
rs56187033
|
0.00029
|
|
NM_012431.3(SEMA3E):c.999-12T>C
|
rs373951907
|
0.00029
|
|
NM_014140.4(SMARCAL1):c.270C>T (p.His90=)
|
rs150591090
|
0.00029
|
|
NM_014714.4(IFT140):c.3426G>A (p.Ala1142=)
|
rs202224171
|
0.00029
|
|
NM_014956.5(CEP164):c.3435G>A (p.Ala1145=)
|
rs149964584
|
0.00029
|
|
NM_015559.3(SETBP1):c.2934C>T (p.His978=)
|
rs145566816
|
0.00029
|
|
NM_015631.6(TCTN3):c.889-8G>A
|
rs374331871
|
0.00029
|
|
NM_017649.5(CNNM2):c.342G>T (p.Thr114=)
|
rs375416482
|
0.00029
|
|
NM_017780.4(CHD7):c.3989+9C>T
|
rs373206209
|
0.00029
|
|
NM_017780.4(CHD7):c.4014C>T (p.Gly1338=)
|
rs188679907
|
0.00029
|
|
NM_022051.3(EGLN1):c.120C>T (p.Phe40=)
|
rs555121182
|
0.00029
|
|
NM_023110.3(FGFR1):c.2424C>G (p.Pro808=)
|
rs374507681
|
0.00029
|
|
NM_024408.4(NOTCH2):c.7086C>T (p.Asp2362=)
|
rs150657714
|
0.00029
|
|
NM_024514.5(CYP2R1):c.225+10C>T
|
rs375228883
|
0.00029
|
|
NM_030943.4(AMN):c.1258-14C>G
|
rs767004707
|
0.00029
|
|
NM_052989.3(IFT122):c.417-16T>C
|
rs192128912
|
0.00029
|
|
NM_053025.4(MYLK):c.2485G>A (p.Glu829Lys)
|
rs370190691
|
0.00029
|
|
NM_153704.6(TMEM67):c.2439+17C>T
|
rs375852558
|
0.00029
|
|
NM_181776.3(SLC36A2):c.323G>A (p.Cys108Tyr)
|
rs200123093
|
0.00029
|
|
NM_000038.6(APC):c.3511C>T (p.Arg1171Cys)
|
rs201830995
|
0.00028
|
|
NM_000135.4(FANCA):c.801T>C (p.Val267=)
|
rs55660936
|
0.00028
|
|
NM_000377.3(WAS):c.1110A>C (p.Pro370=)
|
rs782244198
|
0.00028
|
|
NM_000379.4(XDH):c.3771G>A (p.Ser1257=)
|
rs45594136
|
0.00028
|
|
NM_000546.5(TP53):c.319T>C (p.Tyr107His)
|
rs368771578
|
0.00028
|
|
NM_001014.5(RPS10):c.444C>T (p.Thr148=)
|
rs149897629
|
0.00028
|
|
NM_001022.4(RPS19):c.1-13C>T
|
rs200634600
|
0.00028
|
|
NM_001161352.2(KCNMA1):c.1441-11C>T
|
rs79390996
|
0.00028
|
|
NM_001349206.2(LPIN1):c.2331C>T (p.Asn777=)
|
rs150857974
|
0.00028
|
|
NM_001378414.1(HDAC4):c.1534-9G>A
|
rs375265585
|
0.00028
|
|
NM_001384140.1(PCDH15):c.3502-6G>A
|
rs749897896
|
0.00028
|
|
NM_001429.4(EP300):c.2380-18T>C
|
rs189468196
|
0.00028
|
|
NM_001927.4(DES):c.640-16G>A
|
rs181712657
|
0.00028
|
|
NM_004977.3(KCNC3):c.1927G>A (p.Gly643Ser)
|
rs778523009
|
0.00028
|
|
NM_014362.4(HIBCH):c.957A>G (p.Ser319=)
|
rs3213841
|
0.00028
|
|
NM_014967.5(FAN1):c.1350G>A (p.Leu450=)
|
rs138954416
|
0.00028
|
|
NM_015910.7(WDPCP):c.252G>T (p.Glu84Asp)
|
rs201399904
|
0.00028
|
|
NM_016335.6(PRODH):c.1401C>T (p.Tyr467=)
|
rs200018716
|
0.00028
|
|
NM_022042.4(SLC26A1):c.153G>C (p.Gln51His)
|
rs200471470
|
0.00028
|
|
NM_022489.4(INF2):c.609C>T (p.Ala203=)
|
rs140017506
|
0.00028
|
|
NM_025074.7(FRAS1):c.10649-18T>C
|
rs183886250
|
0.00028
|
|
NM_138694.4(PKHD1):c.8174-19A>T
|
rs758233215
|
0.00028
|
|
NM_182978.4(GNAL):c.540A>G (p.Pro180=)
|
rs182262644
|
0.00028
|
|
NM_198428.3(BBS9):c.2115+20C>T
|
rs779186804
|
0.00028
|
|
NM_213655.5(WNK1):c.3358G>T (p.Val1120Leu)
|
rs150113638
|
0.00028
|
|
NM_000054.7(AVPR2):c.252C>T (p.Ala84=)
|
rs370880911
|
0.00027
|
|
NM_000064.4(C3):c.3855C>T (p.Asp1285=)
|
rs142359391
|
0.00027
|
|
NM_000081.4(LYST):c.368A>G (p.His123Arg)
|
rs3768067
|
0.00027
|
|
NM_000083.3(CLCN1):c.2541C>T (p.His847=)
|
rs146653916
|
0.00027
|
|
NM_000141.5(FGFR2):c.1761C>T (p.Ser587=)
|
rs147173572
|
0.00027
|
|
NM_000187.4(HGD):c.221A>T (p.Glu74Val)
|
rs141965690
|
0.00027
|
|
NM_000303.3(PMM2):c.366C>T (p.Phe122=)
|
rs145714866
|
0.00027
|
|
NM_000343.4(SLC5A1):c.1200C>T (p.Ser400=)
|
rs142046439
|
0.00027
|
|
NM_001002295.2(GATA3):c.330C>T (p.Ser110=)
|
rs111978415
|
0.00027
|
|
NM_001009944.3(PKD1):c.11388C>G (p.Ala3796=)
|
rs149331148
|
0.00027
|
|
NM_001114753.3(ENG):c.1533G>A (p.Ala511=)
|
rs140760635
|
0.00027
|
|
NM_001126108.2(SLC12A3):c.742-6C>T
|
rs370741134
|
0.00027
|
|
NM_001130438.3(SPTAN1):c.4536C>T (p.Ile1512=)
|
rs367772623
|
0.00027
|
|
NM_001171.6(ABCC6):c.1990C>T (p.Pro664Ser)
|
rs59002125
|
0.00027
|
|
NM_001204.7(BMPR2):c.549T>C (p.Leu183=)
|
rs142769493
|
0.00027
|
|
NM_001277115.2(DNAH11):c.6264C>T (p.Pro2088=)
|
rs187936691
|
0.00027
|
|
NM_001278116.2(L1CAM):c.113C>T (p.Thr38Met)
|
rs201151358
|
0.00027
|
|
NM_001395656.1(ROBO2):c.3888G>A (p.Lys1296=)
|
rs200933374
|
0.00027
|
|
NM_002661.5(PLCG2):c.648+12C>G
|
rs145838332
|
0.00027
|
|
NM_002968.3(SALL1):c.387C>T (p.Ala129=)
|
rs147647889
|
0.00027
|
|
NM_003072.5(SMARCA4):c.1245+18C>T
|
rs376247014
|
0.00027
|
|
NM_003401.5(XRCC4):c.894-13T>G
|
rs369970969
|
0.00027
|
|
NM_004360.5(CDH1):c.303C>T (p.Tyr101=)
|
rs150789339
|
0.00027
|
|
NM_004525.3(LRP2):c.8505T>C (p.Cys2835=)
|
rs140925226
|
0.00027
|
|
NM_005515.4(MNX1):c.402T>C (p.Ala134=)
|
rs1241330496
|
0.00027
|
|
NM_006514.4(SCN10A):c.2106+8C>T
|
rs368212766
|
0.00027
|
|
NM_006579.3(EBP):c.13G>A (p.Ala5Thr)
|
rs201992088
|
0.00027
|
|
NM_017570.5(OPLAH):c.3821A>T (p.Glu1274Val)
|
rs202100905
|
0.00027
|
|
NM_017947.4(MOCOS):c.726C>T (p.Tyr242=)
|
rs61739904
|
0.00027
|
|
NM_020632.3(ATP6V0A4):c.1030-18T>C
|
rs769523748
|
0.00027
|
|
NM_020975.6(RET):c.2673G>A (p.Ser891=)
|
rs201620214
|
0.00027
|
|
NM_021098.3(CACNA1H):c.2003-5C>T
|
rs369119012
|
0.00027
|
|
NM_021098.3(CACNA1H):c.4714C>T (p.Arg1572Trp)
|
rs199693105
|
0.00027
|
|
NM_021098.3(CACNA1H):c.5988C>T (p.His1996=)
|
rs534974071
|
0.00027
|
|
NM_022168.4(IFIH1):c.2304+3A>G
|
rs376806735
|
0.00027
|
|
NM_025132.4(WDR19):c.1039C>T (p.Leu347=)
|
rs201958863
|
0.00027
|
|
NM_030667.3(PTPRO):c.661+9C>T
|
rs191278870
|
0.00027
|
|
NM_031885.5(BBS2):c.534+20T>C
|
rs369579609
|
0.00027
|
|
NM_033380.3(COL4A5):c.2244+9C>T
|
rs759349551
|
0.00027
|
|
NM_080425.4(GNAS):c.1395A>C (p.Pro465=)
|
rs56213454
|
0.00027
|
|
NM_152296.5(ATP1A3):c.1503C>T (p.Pro501=)
|
rs143904999
|
0.00027
|
|
NM_212482.4(FN1):c.2713+20A>G
|
rs368435928
|
0.00027
|
|
NM_000059.4(BRCA2):c.1395A>C (p.Val465=)
|
rs11571641
|
0.00026
|
|
NM_000059.4(BRCA2):c.6853A>G (p.Ile2285Val)
|
rs56272235
|
0.00026
|
|
NM_000064.4(C3):c.4635C>T (p.Tyr1545=)
|
rs189948635
|
0.00026
|
|
NM_000091.5(COL4A3):c.204T>C (p.Pro68=)
|
rs200170381
|
0.00026
|
|
NM_000141.5(FGFR2):c.1911C>T (p.Asn637=)
|
rs149008039
|
0.00026
|
|
NM_000168.6(GLI3):c.1242+8G>A
|
rs75925934
|
0.00026
|
|
NM_000196.4(HSD11B2):c.1072C>T (p.Leu358=)
|
rs149889029
|
0.00026
|
|
NM_000214.3(JAG1):c.414G>A (p.Ala138=)
|
rs371682149
|
0.00026
|
|
NM_000281.4(PCBD1):c.57C>T (p.Asn19=)
|
rs114265283
|
0.00026
|
|
NM_000291.4(PGK1):c.642-20A>C
|
rs201622343
|
0.00026
|
|
NM_000434.4(NEU1):c.486C>T (p.Ala162=)
|
rs115588976
|
0.00026
|
|
NM_000444.6(PHEX):c.1437A>G (p.Pro479=)
|
rs141436752
|
0.00026
|
|
NM_000458.4(HNF1B):c.1207-18T>C
|
rs199849203
|
0.00026
|
|
NM_000490.5(AVP):c.127C>G (p.Pro43Ala)
|
rs539928673
|
0.00026
|
|
NM_000548.5(TSC2):c.1120-17C>T
|
rs201704675
|
0.00026
|
|
NM_000719.7(CACNA1C):c.5885G>A (p.Arg1962Gln)
|
rs199776761
|
0.00026
|
|
NM_000944.5(PPP3CA):c.87T>A (p.Leu29=)
|
rs200922134
|
0.00026
|
|
NM_001018115.3(FANCD2):c.1766+16C>T
|
rs201040143
|
0.00026
|
|
NM_001035.3(RYR2):c.14757-19A>G
|
rs190533014
|
0.00026
|
|
NM_001042413.2(GLIS3):c.2421C>G (p.Ser807=)
|
rs563920093
|
0.00026
|
|
NM_001044.5(SLC6A3):c.1767+13A>G
|
rs28363130
|
0.00026
|
|
NM_001046.3(SLC12A2):c.2493C>A (p.Ala831=)
|
rs138341229
|
0.00026
|
|
NM_001079802.2(FKTN):c.910+13C>T
|
rs375259473
|
0.00026
|
|
NM_001101.5(ACTB):c.645G>A (p.Lys215=)
|
rs145017784
|
0.00026
|
|
NM_001102564.3(IFT43):c.201C>T (p.Ser67=)
|
rs140127543
|
0.00026
|
|
NM_001113378.2(FANCI):c.1822-18C>T
|
rs373603139
|
0.00026
|
|
NM_001122630.2(CDKN1C):c.213G>A (p.Val71=)
|
rs141005361
|
0.00026
|
|
NM_001144967.3(NEDD4L):c.1403G>A (p.Arg468Gln)
|
rs200221331
|
0.00026
|
|
NM_001171.6(ABCC6):c.3507-17G>A
|
rs58571995
|
0.00026
|
|
NM_001174147.2(LMX1B):c.327-17G>A
|
rs372620265
|
0.00026
|
|
NM_001273.5(CHD4):c.5529C>T (p.Asn1843=)
|
rs201751048
|
0.00026
|
|
NM_001356.5(DDX3X):c.1434G>A (p.Arg478=)
|
rs186110059
|
0.00026
|
|
NM_001375978.1(CHRM3):c.1152C>T (p.Pro384=)
|
rs139780487
|
0.00026
|
|
NM_001377142.1(PLCB4):c.3122A>G (p.Asn1041Ser)
|
rs147312767
|
0.00026
|
|
NM_001378615.1(CC2D2A):c.4675-15G>A
|
rs377573053
|
0.00026
|
|
NM_001379200.1(TBX1):c.941G>A (p.Arg314Gln)
|
rs555522870
|
0.00026
|
|
NM_001482.3(GATM):c.484+19C>T
|
rs374556262
|
0.00026
|
|
NM_002497.4(NEK2):c.863G>A (p.Arg288Gln)
|
rs181112920
|
0.00026
|
|
NM_002641.4(PIGA):c.525T>C (p.Leu175=)
|
rs61751426
|
0.00026
|
|
NM_003401.5(XRCC4):c.139+7C>T
|
rs373131654
|
0.00026
|
|
NM_003482.4(KMT2D):c.1365A>G (p.Glu455=)
|
rs141231056
|
0.00026
|
|
NM_003640.5(ELP1):c.3855+19G>A
|
rs113767921
|
0.00026
|
|
NM_004172.5(SLC1A3):c.68G>A (p.Arg23His)
|
rs199774340
|
0.00026
|
|
NM_004239.4(TRIP11):c.107A>T (p.Asp36Val)
|
rs186074112
|
0.00026
|
|
NM_004370.6(COL12A1):c.6120C>T (p.Ser2040=)
|
rs200570792
|
0.00026
|
|
NM_004974.4(KCNA2):c.372G>A (p.Glu124=)
|
rs200499541
|
0.00026
|
|
NM_005612.5(REST):c.898+15C>T
|
rs148949163
|
0.00026
|
|
NM_005921.2(MAP3K1):c.2431A>G (p.Met811Val)
|
rs189290632
|
0.00026
|
|
NM_006662.3(SRCAP):c.2655C>A (p.Gly885=)
|
rs144028938
|
0.00026
|
|
NM_007294.4(BRCA1):c.736T>G (p.Leu246Val)
|
rs28897675
|
0.00026
|
|
NM_012330.4(KAT6B):c.4434C>T (p.Gly1478=)
|
rs148364222
|
0.00026
|
|
NM_014491.4(FOXP2):c.1937A>G (p.Asn646Ser)
|
rs145154396
|
0.00026
|
|
NM_015102.5(NPHP4):c.1089G>T (p.Val363=)
|
rs201464887
|
0.00026
|
|
NM_015158.5(KANK1):c.2091C>T (p.Asn697=)
|
rs34038073
|
0.00026
|
|
NM_015158.5(KANK1):c.2556C>T (p.Phe852=)
|
rs149371668
|
0.00026
|
|
NM_015662.3(IFT172):c.2949G>A (p.Lys983=)
|
rs141970363
|
0.00026
|
|
NM_015662.3(IFT172):c.3951+14G>T
|
rs376690357
|
0.00026
|
|
NM_015662.3(IFT172):c.987G>A (p.Thr329=)
|
rs376714689
|
0.00026
|
|
NM_021098.3(CACNA1H):c.1389C>T (p.Tyr463=)
|
rs375590164
|
0.00026
|
|
NM_021098.3(CACNA1H):c.3745-18C>T
|
rs570915422
|
0.00026
|
|
NM_031885.5(BBS2):c.1623C>T (p.Gly541=)
|
rs143951580
|
0.00026
|
|
NM_032387.5(WNK4):c.2213G>A (p.Arg738Gln)
|
rs200823152
|
0.00026
|
|
NM_032888.4(COL27A1):c.2113C>T (p.Pro705Ser)
|
rs139039113
|
0.00026
|
|
NM_033550.4(TP53RK):c.519C>G (p.Pro173=)
|
rs141087837
|
0.00026
|
|
NM_178170.3(NEK8):c.936G>A (p.Ser312=)
|
rs146798411
|
0.00026
|
|
NM_182961.4(SYNE1):c.25146C>T (p.Ser8382=)
|
rs151034170
|
0.00026
|
|
NM_198252.3(GSN):c.1563C>T (p.Ser521=)
|
rs140414249
|
0.00026
|
|
NM_198252.3(GSN):c.285C>T (p.His95=)
|
rs142155964
|
0.00026
|
|
NM_198428.3(BBS9):c.621C>T (p.Tyr207=)
|
rs140169161
|
0.00026
|
|
NM_206933.4(USH2A):c.6001C>T (p.Arg2001Cys)
|
rs141539554
|
0.00026
|
|
NM_212482.4(FN1):c.1638C>T (p.Phe546=)
|
rs368833093
|
0.00026
|
|
NM_000059.4(BRCA2):c.1786G>C (p.Asp596His)
|
rs56328701
|
0.00025
|
|
NM_000059.4(BRCA2):c.9876G>A (p.Pro3292=)
|
rs369047997
|
0.00025
|
|
NM_000135.4(FANCA):c.399C>T (p.His133=)
|
rs56190097
|
0.00025
|
|
NM_000535.7(PMS2):c.2324A>G (p.Asn775Ser)
|
rs17420802
|
0.00025
|
|
NM_000975.5(RPL11):c.153C>T (p.Ser51=)
|
rs80133698
|
0.00025
|
|
NM_001018115.3(FANCD2):c.1143C>T (p.Asp381=)
|
rs376349741
|
0.00025
|
|
NM_001042492.3(NF1):c.61-19T>C
|
rs185325140
|
0.00025
|
|
NM_001110556.2(FLNA):c.3421G>A (p.Ala1141Thr)
|
rs201908251
|
0.00025
|
|
NM_001171.6(ABCC6):c.396A>G (p.Ser132=)
|
rs913912489
|
0.00025
|
|
NM_001366722.1(GRIP1):c.55+9C>A
|
rs199740150
|
0.00025
|
|
NM_001386298.1(CIC):c.6611C>T (p.Pro2204Leu)
|
rs374363627
|
0.00025
|
|
NM_002292.4(LAMB2):c.5061G>A (p.Thr1687=)
|
rs150465100
|
0.00025
|
|
NM_002292.4(LAMB2):c.915+16C>T
|
rs376022767
|
0.00025
|
|
NM_002334.4(LRP4):c.273C>T (p.Asp91=)
|
rs150401820
|
0.00025
|
|
NM_004667.6(HERC2):c.3133C>T (p.Arg1045Cys)
|
rs117802902
|
0.00025
|
|
NM_004985.5(KRAS):c.24A>G (p.Val8=)
|
rs147406419
|
0.00025
|
|
NM_006005.3(WFS1):c.1470C>T (p.Thr490=)
|
rs146027767
|
0.00025
|
|
NM_006015.6(ARID1A):c.1803+9T>C
|
rs371726505
|
0.00025
|
|
NM_006765.4(TUSC3):c.1028+11T>C
|
rs187670751
|
0.00025
|
|
NM_014956.5(CEP164):c.3610-4A>G
|
rs111915712
|
0.00025
|
|
NM_015158.5(KANK1):c.1196G>A (p.Arg399Gln)
|
rs114784029
|
0.00025
|
|
NM_015158.5(KANK1):c.1600G>A (p.Val534Met)
|
rs112166059
|
0.00025
|
|
NM_015506.3(MMACHC):c.126G>A (p.Pro42=)
|
rs201112314
|
0.00025
|
|
NM_015662.3(IFT172):c.4290C>T (p.Cys1430=)
|
rs551376007
|
0.00025
|
|
NM_016356.5(DCDC2):c.349-15C>T
|
rs200146922
|
0.00025
|
|
NM_017570.5(OPLAH):c.573C>G (p.Leu191=)
|
rs375794631
|
0.00025
|
|
NM_017827.4(SARS2):c.91A>C (p.Arg31=)
|
rs138274440
|
0.00025
|
|
NM_018979.4(WNK1):c.5496G>A (p.Gln1832=)
|
rs138219481
|
0.00025
|
|
NM_021098.3(CACNA1H):c.1869C>T (p.Ser623=)
|
rs372975893
|
0.00025
|
|
NM_022455.5(NSD1):c.3187A>G (p.Thr1063Ala)
|
rs193290006
|
0.00025
|
|
NM_022455.5(NSD1):c.7908C>T (p.Leu2636=)
|
rs143159630
|
0.00025
|
|
NM_033022.4(RPS24):c.306C>T (p.Thr102=)
|
rs558975561
|
0.00025
|
|
NM_153614.4(DNAJB13):c.272T>G (p.Val91Gly)
|
rs145909750
|
0.00025
|
|
NM_198578.4(LRRK2):c.1256C>T (p.Ala419Val)
|
rs34594498
|
0.00025
|
|
NM_198578.4(LRRK2):c.7462+15G>C
|
rs200420425
|
0.00025
|
|
NM_212482.4(FN1):c.2538G>A (p.Ser846=)
|
rs145300210
|
0.00025
|
|
NM_000041.4(APOE):c.69G>A (p.Ala23=)
|
rs111833428
|
0.00024
|
|
NM_000044.6(AR):c.528C>A (p.Ser176Arg)
|
rs777131133
|
0.00024
|
|
NM_000162.5(GCK):c.208+17G>A
|
rs199822205
|
0.00024
|
|
NM_000213.5(ITGB4):c.2962+9G>C
|
rs375133413
|
0.00024
|
|
NM_000257.4(MYH7):c.4377G>T (p.Lys1459Asn)
|
rs201307101
|
0.00024
|
|
NM_000261.2(MYOC):c.136C>T (p.Arg46Ter)
|
rs74315337
|
0.00024
|
|
NM_000278.5(PAX2):c.963C>T (p.His321=)
|
rs138750534
|
0.00024
|
|
NM_000334.4(SCN4A):c.1101-16C>T
|
rs376459843
|
0.00024
|
|
NM_000343.4(SLC5A1):c.1752T>G (p.Pro584=)
|
rs149362007
|
0.00024
|
|
NM_000834.5(GRIN2B):c.3549G>A (p.Thr1183=)
|
rs201568782
|
0.00024
|
|
NM_000944.5(PPP3CA):c.588G>A (p.Leu196=)
|
rs142339019
|
0.00024
|
|
NM_000969.5(RPL5):c.408T>C (p.Asp136=)
|
rs142297836
|
0.00024
|
|
NM_001018113.3(FANCB):c.1995C>T (p.Pro665=)
|
rs192743430
|
0.00024
|
|
NM_001041.4(SI):c.2301+20T>G
|
rs576773147
|
0.00024
|
|
NM_001042492.3(NF1):c.369C>G (p.Thr123=)
|
rs146691765
|
0.00024
|
|
NM_001122955.4(BSCL2):c.624G>A (p.Ser208=)
|
rs138532996
|
0.00024
|
|
NM_001130438.3(SPTAN1):c.2025T>C (p.Arg675=)
|
rs145870898
|
0.00024
|
|
NM_001171.6(ABCC6):c.3564G>A (p.Thr1188=)
|
rs58494932
|
0.00024
|
|
NM_001366110.1(PAX4):c.762C>T (p.Ile254=)
|
rs147670794
|
0.00024
|
|
NM_001366722.1(GRIP1):c.579-8C>T
|
rs375593950
|
0.00024
|
|
NM_001715.3(BLK):c.368+13G>A
|
rs199644751
|
0.00024
|
|
NM_001845.6(COL4A1):c.831A>G (p.Lys277=)
|
rs140978802
|
0.00024
|
|
NM_002386.4(MC1R):c.200G>A (p.Arg67Gln)
|
rs34090186
|
0.00024
|
|
NM_002471.4(MYH6):c.2685+10C>T
|
rs202155137
|
0.00024
|
|
NM_002755.4(MAP2K1):c.237C>T (p.Gly79=)
|
rs148656020
|
0.00024
|
|
NM_002968.3(SALL1):c.3729C>T (p.Asn1243=)
|
rs148612488
|
0.00024
|
|
NM_003114.5(SPAG1):c.1057A>G (p.Lys353Glu)
|
rs556774863
|
0.00024
|
|
NM_003401.5(XRCC4):c.483-15T>G
|
rs199551802
|
0.00024
|
|
NM_003482.4(KMT2D):c.10423G>A (p.Ala3475Thr)
|
rs370434981
|
0.00024
|
|
NM_003611.3(OFD1):c.1294A>G (p.Lys432Glu)
|
rs142352920
|
0.00024
|
|
NM_003647.3(DGKE):c.625-13C>A
|
rs189280031
|
0.00024
|
|
NM_004074.3(COX8A):c.114+17G>A
|
rs373910843
|
0.00024
|
|
NM_004357.5(CD151):c.616-17C>G
|
rs199919101
|
0.00024
|
|
NM_004380.3(CREBBP):c.4251C>T (p.Tyr1417=)
|
rs61731412
|
0.00024
|
|
NM_004525.3(LRP2):c.13108+12G>A
|
rs370126040
|
0.00024
|
|
NM_004560.4(ROR2):c.1572G>A (p.Glu524=)
|
rs138666116
|
0.00024
|
|
NM_004924.6(ACTN4):c.2469C>T (p.Ser823=)
|
rs143282009
|
0.00024
|
|
NM_004944.4(DNASE1L3):c.777A>G (p.Lys259=)
|
rs138248740
|
0.00024
|
|
NM_005378.6(MYCN):c.1380C>T (p.His460=)
|
rs150023769
|
0.00024
|
|
NM_006005.3(WFS1):c.1419C>T (p.Ser473=)
|
rs150997327
|
0.00024
|
|
NM_006412.4(AGPAT2):c.741C>T (p.Thr247=)
|
rs117434864
|
0.00024
|
|
NM_006662.3(SRCAP):c.9253A>G (p.Met3085Val)
|
rs369935740
|
0.00024
|
|
NM_007214.5(SEC63):c.574-20C>G
|
rs369895256
|
0.00024
|
|
NM_012203.2(GRHPR):c.345A>T (p.Ala115=)
|
rs147053190
|
0.00024
|
|
NM_012330.4(KAT6B):c.4611C>T (p.Ile1537=)
|
rs371945178
|
0.00024
|
|
NM_012330.4(KAT6B):c.5355C>T (p.Pro1785=)
|
rs138711901
|
0.00024
|
|
NM_014956.5(CEP164):c.1152+16C>T
|
rs375703035
|
0.00024
|
|
NM_014967.5(FAN1):c.2862T>C (p.Cys954=)
|
rs143428659
|
0.00024
|
|
NM_015158.5(KANK1):c.3696+8C>T
|
rs373324342
|
0.00024
|
|
NM_015158.5(KANK1):c.857T>A (p.Val286Glu)
|
rs114947217
|
0.00024
|
|
NM_015311.3(OBSL1):c.423G>A (p.Arg141=)
|
rs79796143
|
0.00024
|
|
NM_015443.4(KANSL1):c.286T>C (p.Leu96=)
|
rs140268765
|
0.00024
|
|
NM_015662.3(IFT172):c.2193+10T>A
|
rs368782783
|
0.00024
|
|
NM_015662.3(IFT172):c.3952-19C>T
|
rs367962098
|
0.00024
|
|
NM_015910.7(WDPCP):c.826-13T>C
|
rs368439537
|
0.00024
|
|
NM_016341.4(PLCE1):c.6342+15G>A
|
rs372816882
|
0.00024
|
|
NM_017947.4(MOCOS):c.2165-9C>T
|
rs188625675
|
0.00024
|
|
NM_018979.4(WNK1):c.5583+16T>G
|
rs369251741
|
0.00024
|
|
NM_020223.4(FAM20C):c.1748C>T (p.Ala583Val)
|
rs557222235
|
0.00024
|
|
NM_020987.5(ANK3):c.4403G>A (p.Arg1468His)
|
rs74777754
|
0.00024
|
|
NM_021098.3(CACNA1H):c.1754C>T (p.Pro585Leu)
|
rs372367313
|
0.00024
|
|
NM_021098.3(CACNA1H):c.5562G>C (p.Val1854=)
|
rs368251427
|
0.00024
|
|
NM_022098.4(XPNPEP3):c.1357+19A>G
|
rs139881907
|
0.00024
|
|
NM_025074.7(FRAS1):c.6834G>A (p.Glu2278=)
|
rs375278138
|
0.00024
|
|
NM_025114.4(CEP290):c.4182G>A (p.Val1394=)
|
rs371530941
|
0.00024
|
|
NM_031885.5(BBS2):c.1080+14C>T
|
rs375468475
|
0.00024
|
|
NM_138927.4(SON):c.3640C>T (p.Pro1214Ser)
|
rs191169903
|
0.00024
|
|
NM_144596.4(TTC8):c.909+18T>C
|
rs111707320
|
0.00024
|
|
NM_000039.3(APOA1):c.555G>C (p.Thr185=)
|
rs143182884
|
0.00023
|
|
NM_000098.3(CPT2):c.1776G>A (p.Leu592=)
|
rs141146189
|
0.00023
|
|
NM_000102.4(CYP17A1):c.1458C>T (p.Ile486=)
|
rs147557447
|
0.00023
|
|
NM_000141.5(FGFR2):c.64C>T (p.Arg22Trp)
|
rs377570596
|
0.00023
|
|
NM_000168.6(GLI3):c.30C>T (p.Thr10=)
|
rs148154157
|
0.00023
|
|
NM_000168.6(GLI3):c.474-4C>T
|
rs74536326
|
0.00023
|
|
NM_000342.4(SLC4A1):c.798T>C (p.Phe266=)
|
rs193011645
|
0.00023
|
|
NM_000379.4(XDH):c.1773C>T (p.Ala591=)
|
rs145108969
|
0.00023
|
|
NM_000455.5(STK11):c.1194G>A (p.Ala398=)
|
rs184271025
|
0.00023
|
|
NM_001009944.3(PKD1):c.2808C>T (p.Arg936=)
|
rs376075101
|
0.00023
|
|
NM_001009944.3(PKD1):c.8550G>A (p.Ser2850=)
|
rs145648167
|
0.00023
|
|
NM_001018115.3(FANCD2):c.609T>C (p.Ala203=)
|
rs374019283
|
0.00023
|
|
NM_001458.5(FLNC):c.1026C>T (p.Pro342=)
|
rs200633995
|
0.00023
|
|
NM_003611.3(OFD1):c.2260+12G>A
|
rs375507459
|
0.00023
|
|
NM_004074.3(COX8A):c.174C>A (p.Ile58=)
|
rs11550240
|
0.00023
|
|
NM_004074.3(COX8A):c.93G>T (p.Pro31=)
|
rs528113495
|
0.00023
|
|
NM_004387.4(NKX2-5):c.852C>G (p.Ala284=)
|
rs374150672
|
0.00023
|
|
NM_007294.4(BRCA1):c.1486C>T (p.Arg496Cys)
|
rs28897676
|
0.00023
|
|
NM_014714.4(IFT140):c.2768+17C>T
|
rs373280850
|
0.00023
|
|
NM_015512.5(DNAH1):c.6411C>T (p.Asn2137=)
|
rs372595174
|
0.00023
|
|
NM_016335.6(PRODH):c.606C>T (p.Tyr202=)
|
rs149344100
|
0.00023
|
|
NM_020297.4(ABCC9):c.3315+17C>T
|
rs200692327
|
0.00023
|
|
NM_021098.3(CACNA1H):c.43C>T (p.Leu15=)
|
rs1052743921
|
0.00023
|
|
NM_022042.4(SLC26A1):c.1296G>A (p.Pro432=)
|
rs150810594
|
0.00023
|
|
NM_025074.7(FRAS1):c.7053C>T (p.Ile2351=)
|
rs187011600
|
0.00023
|
|
NM_033380.3(COL4A5):c.2917+18T>C
|
rs376067886
|
0.00023
|
|
NM_144585.4(SLC22A12):c.661+11G>A
|
rs75786299
|
0.00023
|
|
NM_144997.7(FLCN):c.1326C>T (p.His442=)
|
rs145004158
|
0.00023
|
|
NM_178857.6(RP1L1):c.3201C>T (p.Gly1067=)
|
rs200462441
|
0.00023
|
|
NM_198578.4(LRRK2):c.2264C>T (p.Pro755Leu)
|
rs34410987
|
0.00023
|
|
NM_212482.4(FN1):c.1143C>T (p.Asp381=)
|
rs200307732
|
0.00023
|
|
NM_000045.4(ARG1):c.474T>C (p.Asp158=)
|
rs144403253
|
0.00022
|
|
NM_000069.3(CACNA1S):c.1890G>A (p.Pro630=)
|
rs141717649
|
0.00022
|
|
NM_000214.3(JAG1):c.3507G>C (p.Arg1169=)
|
rs138452567
|
0.00022
|
|
NM_000238.4(KCNH2):c.2398+16C>T
|
rs201873431
|
0.00022
|
|
NM_000249.4(MLH1):c.307-19A>G
|
rs121909451
|
0.00022
|
|
NM_000276.4(OCRL):c.912T>G (p.Gly304=)
|
rs190659938
|
0.00022
|
|
NM_000345.4(SNCA):c.121+11C>T
|
rs35135226
|
0.00022
|
|
NM_000360.4(TH):c.1200+11C>T
|
rs372851419
|
0.00022
|
|
NM_000379.4(XDH):c.2460C>T (p.Thr820=)
|
rs143539472
|
0.00022
|
|
NM_000516.7(GNAS):c.312+17T>C
|
rs78999525
|
0.00022
|
|
NM_000548.5(TSC2):c.2837+11dup
|
rs137854204
|
0.00022
|
|
NM_000782.5(CYP24A1):c.93G>A (p.Thr31=)
|
rs151204685
|
0.00022
|
|
NM_001009944.3(PKD1):c.10822-8C>G
|
rs9924796
|
0.00022
|
|
NM_001009944.3(PKD1):c.8162-12G>A
|
rs375993328
|
0.00022
|
|
NM_001042413.2(GLIS3):c.1327C>T (p.Leu443=)
|
rs529418802
|
0.00022
|
|
NM_001044.5(SLC6A3):c.1143C>T (p.Asp381=)
|
rs8179027
|
0.00022
|
|
NM_001081.4(CUBN):c.7491G>A (p.Leu2497=)
|
rs189314395
|
0.00022
|
|
NM_001110556.2(FLNA):c.2516C>T (p.Thr839Met)
|
rs201603843
|
0.00022
|
|
NM_001110792.2(MECP2):c.1174G>A (p.Val392Met)
|
rs267608572
|
0.00022
|
|
NM_001364905.1(LRBA):c.2275A>C (p.Met759Leu)
|
rs191118242
|
0.00022
|
|
NM_001365276.2(TNXB):c.12058+6T>G
|
rs761600175
|
0.00022
|
|
NM_001384732.1(CPLANE1):c.9579+7A>G
|
rs369166609
|
0.00022
|
|
NM_001845.6(COL4A1):c.781-12G>A
|
rs202198648
|
0.00022
|
|
NM_002335.4(LRP5):c.1395A>C (p.Ala465=)
|
rs200075657
|
0.00022
|
|
NM_002335.4(LRP5):c.488+15G>A
|
rs370558169
|
0.00022
|
|
NM_002473.6(MYH9):c.2085C>T (p.Asn695=)
|
rs375953430
|
0.00022
|
|
NM_002661.5(PLCG2):c.766-13T>G
|
rs115570507
|
0.00022
|
|
NM_003401.5(XRCC4):c.140-15T>C
|
rs375480555
|
0.00022
|
|
NM_003982.4(SLC7A7):c.882T>C (p.Asp294=)
|
rs750881343
|
0.00022
|
|
NM_004924.6(ACTN4):c.2673C>T (p.Ala891=)
|
rs140419295
|
0.00022
|
|
NM_004975.4(KCNB1):c.51G>A (p.Pro17=)
|
rs772184358
|
0.00022
|
|
NM_005732.4(RAD50):c.1677C>T (p.His559=)
|
rs142619269
|
0.00022
|
|
NM_006267.5(RANBP2):c.7340C>T (p.Ser2447Phe)
|
rs200750445
|
0.00022
|
|
NM_006612.6(KIF1C):c.184-8T>C
|
rs192384276
|
0.00022
|
|
NM_006662.3(SRCAP):c.2883C>T (p.Asp961=)
|
rs141067629
|
0.00022
|
|
NM_013266.4(CTNNA3):c.779A>G (p.Gln260Arg)
|
rs190073606
|
0.00022
|
|
NM_014159.7(SETD2):c.3897C>T (p.Tyr1299=)
|
rs150036725
|
0.00022
|
|
NM_014956.5(CEP164):c.3183C>A (p.Leu1061=)
|
rs144700973
|
0.00022
|
|
NM_015512.5(DNAH1):c.5332-14G>A
|
rs375828810
|
0.00022
|
|
NM_016335.6(PRODH):c.780A>G (p.Gln260=)
|
rs202042437
|
0.00022
|
|
NM_018979.4(WNK1):c.6123T>A (p.Leu2041=)
|
rs189148252
|
0.00022
|
|
NM_020041.3(SLC2A9):c.726C>T (p.Ala242=)
|
rs147545113
|
0.00022
|
|
NM_021098.3(CACNA1H):c.1495G>A (p.Gly499Ser)
|
rs560915333
|
0.00022
|
|
NM_022455.5(NSD1):c.2968G>A (p.Glu990Lys)
|
rs138673583
|
0.00022
|
|
NM_022489.4(INF2):c.1736-18C>T
|
rs199612826
|
0.00022
|
|
NM_025074.7(FRAS1):c.1635C>T (p.Ser545=)
|
rs528765554
|
0.00022
|
|
NM_032119.4(ADGRV1):c.2734+18T>G
|
rs372642748
|
0.00022
|
|
NM_032444.4(SLX4):c.1065G>A (p.Gln355=)
|
rs200183071
|
0.00022
|
|
NM_053025.4(MYLK):c.4322-11G>A
|
rs371724615
|
0.00022
|
|
NM_138694.4(PKHD1):c.3098-13G>A
|
rs371242359
|
0.00022
|
|
NM_212552.3(BOLA3):c.45G>T (p.Gly15=)
|
rs531409597
|
0.00022
|
|
NM_000059.4(BRCA2):c.5312G>A (p.Gly1771Asp)
|
rs80358755
|
0.00021
|
|
NM_000064.4(C3):c.4791G>A (p.Glu1597=)
|
rs149675330
|
0.00021
|
|
NM_000093.5(COL5A1):c.1440C>T (p.Pro480=)
|
rs150940930
|
0.00021
|
|
NM_000257.4(MYH7):c.5656-9C>T
|
rs781212482
|
0.00021
|
|
NM_000257.4(MYH7):c.77C>T (p.Ala26Val)
|
rs186964570
|
0.00021
|
|
NM_000334.4(SCN4A):c.2649C>T (p.Pro883=)
|
rs368024629
|
0.00021
|
|
NM_000363.5(TNNI3):c.373-16C>T
|
rs373508654
|
0.00021
|
|
NM_000368.5(TSC1):c.1677C>T (p.Cys559=)
|
rs368317116
|
0.00021
|
|
NM_000545.8(HNF1A):c.1386C>T (p.Val462=)
|
rs143015301
|
0.00021
|
|
NM_000890.5(KCNJ5):c.645G>A (p.Leu215=)
|
rs147245544
|
0.00021
|
|
NM_000975.5(RPL11):c.397-4A>G
|
rs371228733
|
0.00021
|
|
NM_001003841.3(SLC6A19):c.162C>T (p.Asn54=)
|
rs139760936
|
0.00021
|
|
NM_001009944.3(PKD1):c.288-20G>A
|
rs572319823
|
0.00021
|
|
NM_001018115.3(FANCD2):c.696-18T>G
|
rs56083801
|
0.00021
|
|
NM_001041.4(SI):c.1587G>A (p.Pro529=)
|
rs531422962
|
0.00021
|
|
NM_001081.4(CUBN):c.813C>T (p.Pro271=)
|
rs139348777
|
0.00021
|
|
NM_001081.4(CUBN):c.9455-13T>C
|
rs374390875
|
0.00021
|
|
NM_001099922.3(ALG13):c.2933-14A>G
|
rs755886617
|
0.00021
|
|
NM_001126108.2(SLC12A3):c.2368+18C>A
|
rs370563622
|
0.00021
|
|
NM_001134831.2(AHI1):c.136-8C>T
|
rs370834009
|
0.00021
|
|
NM_001136193.2(FASTKD2):c.1693C>T (p.Leu565=)
|
rs148971447
|
0.00021
|
|
NM_001142800.2(EYS):c.6876T>C (p.Asn2292=)
|
rs774188028
|
0.00021
|
|
NM_001142800.2(EYS):c.7723+9T>C
|
rs766087392
|
0.00021
|
|
NM_001197104.2(KMT2A):c.6576C>T (p.Ser2192=)
|
rs201483860
|
0.00021
|
|
NM_001206927.2(DNAH8):c.725G>A (p.Arg242His)
|
rs142863013
|
0.00021
|
|
NM_001267550.2(TTN):c.40634-10T>A
|
rs375097334
|
0.00021
|
|
NM_001368397.1(FRMPD4):c.1224T>C (p.His408=)
|
rs200736738
|
0.00021
|
|
NM_001378454.1(ALMS1):c.12362+17_12362+18del
|
rs768207589
|
0.00021
|
|
NM_001384732.1(CPLANE1):c.5820+8A>G
|
rs181096718
|
0.00021
|
|
NM_001457.4(FLNB):c.3583G>A (p.Val1195Met)
|
rs200993986
|
0.00021
|
|
NM_001457.4(FLNB):c.5407A>T (p.Met1803Leu)
|
rs200677473
|
0.00021
|
|
NM_001458.5(FLNC):c.5889G>A (p.Thr1963=)
|
rs374743518
|
0.00021
|
|
NM_001715.3(BLK):c.424A>G (p.Ile142Val)
|
rs562247916
|
0.00021
|
|
NM_001963.6(EGF):c.737+11C>T
|
rs374147711
|
0.00021
|
|
NM_002334.4(LRP4):c.3384G>A (p.Gly1128=)
|
rs144335505
|
0.00021
|
|
NM_002335.4(LRP5):c.1134C>T (p.Ile378=)
|
rs139130382
|
0.00021
|
|
NM_002335.4(LRP5):c.1605G>A (p.Thr535=)
|
rs141896162
|
0.00021
|
|
NM_002335.4(LRP5):c.3879G>A (p.Glu1293=)
|
rs759175453
|
0.00021
|
|
NM_002335.4(LRP5):c.4689C>T (p.Tyr1563=)
|
rs149752460
|
0.00021
|
|
NM_002661.5(PLCG2):c.2427A>G (p.Gly809=)
|
rs200844173
|
0.00021
|
|
NM_002661.5(PLCG2):c.480-15C>T
|
rs368147709
|
0.00021
|
|
NM_002661.5(PLCG2):c.678C>T (p.Ser226=)
|
rs111553163
|
0.00021
|
|
NM_002887.4(RARS1):c.1453-17T>G
|
rs202160674
|
0.00021
|
|
NM_003098.3(SNTA1):c.909+17G>T
|
rs376695170
|
0.00021
|
|
NM_004356.4(CD81):c.159C>T (p.Pro53=)
|
rs200365372
|
0.00021
|
|
NM_004360.5(CDH1):c.670C>T (p.Arg224Cys)
|
rs200310662
|
0.00021
|
|
NM_004380.3(CREBBP):c.4560+14A>G
|
rs200934101
|
0.00021
|
|
NM_004525.3(LRP2):c.8847G>A (p.Ser2949=)
|
rs181346149
|
0.00021
|
|
NM_004998.4(MYO1E):c.1805+7G>A
|
rs561678142
|
0.00021
|
|
NM_004998.4(MYO1E):c.2628-8T>C
|
rs373053697
|
0.00021
|
|
NM_004998.4(MYO1E):c.2640G>A (p.Lys880=)
|
rs144794852
|
0.00021
|
|
NM_005566.4(LDHA):c.777G>A (p.Leu259=)
|
rs137996815
|
0.00021
|
|
NM_006005.3(WFS1):c.712+19C>T
|
rs376973865
|
0.00021
|
|
NM_006915.3(RP2):c.1001C>A (p.Ser334Tyr)
|
rs139796627
|
0.00021
|
|
NM_007294.4(BRCA1):c.571G>A (p.Val191Ile)
|
rs80357090
|
0.00021
|
|
NM_012120.3(CD2AP):c.1812C>T (p.His604=)
|
rs140391156
|
0.00021
|
|
NM_012188.5(FOXI1):c.823G>A (p.Ala275Thr)
|
rs145129881
|
0.00021
|
|
NM_012330.4(KAT6B):c.4211G>A (p.Arg1404His)
|
rs563033366
|
0.00021
|
|
NM_014270.5(SLC7A9):c.874-14G>A
|
rs369923725
|
0.00021
|
|
NM_014714.4(IFT140):c.3033G>A (p.Ala1011=)
|
rs148625428
|
0.00021
|
|
NM_014714.4(IFT140):c.4144C>T (p.Leu1382=)
|
rs139458566
|
0.00021
|
|
NM_014727.3(KMT2B):c.398C>T (p.Ala133Val)
|
rs202048028
|
0.00021
|
|
NM_015294.6(TRIM37):c.2577-7C>G
|
rs199694001
|
0.00021
|
|
NM_015443.4(KANSL1):c.525C>T (p.Ser175=)
|
rs148321376
|
0.00021
|
|
NM_015650.4(TRAF3IP1):c.1282+8A>T
|
rs201037417
|
0.00021
|
|
NM_016953.4(PDE11A):c.2647G>A (p.Ala883Thr)
|
rs79400048
|
0.00021
|
|
NM_020436.5(SALL4):c.447G>A (p.Ala149=)
|
rs147838161
|
0.00021
|
|
NM_020738.4(KIDINS220):c.2556A>G (p.Ala852=)
|
rs150868908
|
0.00021
|
|
NM_021098.3(CACNA1H):c.624C>T (p.Arg208=)
|
rs56816479
|
0.00021
|
|
NM_021922.3(FANCE):c.1316+10C>T
|
rs200479051
|
0.00021
|
|
NM_022042.4(SLC26A1):c.432C>T (p.Ala144=)
|
rs143284684
|
0.00021
|
|
NM_022098.4(XPNPEP3):c.793-18C>T
|
rs201917593
|
0.00021
|
|
NM_024079.5(ALG8):c.175-13A>G
|
rs186117363
|
0.00021
|
|
NM_024408.4(NOTCH2):c.6997G>C (p.Ala2333Pro)
|
rs143506822
|
0.00021
|
|
NM_024675.4(PALB2):c.1281T>C (p.Ala427=)
|
rs138697796
|
0.00021
|
|
NM_025074.7(FRAS1):c.5214C>T (p.Tyr1738=)
|
rs368304108
|
0.00021
|
|
NM_030662.4(MAP2K2):c.450+17C>T
|
rs199892711
|
0.00021
|
|
NM_033380.3(COL4A5):c.2400T>C (p.Asp800=)
|
rs372505008
|
0.00021
|
|
NM_052989.3(IFT122):c.1380C>T (p.Ser460=)
|
rs142641511
|
0.00021
|
|
NM_052989.3(IFT122):c.531G>A (p.Ser177=)
|
rs150496357
|
0.00021
|
|
NM_173551.5(ANKS6):c.1731G>A (p.Thr577=)
|
rs201821907
|
0.00021
|
|
NM_173551.5(ANKS6):c.908-16C>T
|
rs375604399
|
0.00021
|
|
NM_173689.7(CRB2):c.1217C>T (p.Pro406Leu)
|
rs34802652
|
0.00021
|
|
NM_182476.3(COQ6):c.498C>T (p.Leu166=)
|
rs139341447
|
0.00021
|
|
NM_198252.3(GSN):c.1325+14G>A
|
rs113863232
|
0.00021
|
|
NM_207361.6(FREM2):c.9007-8C>T
|
rs374741888
|
0.00021
|
|
NM_212482.4(FN1):c.3909T>G (p.Val1303=)
|
rs200729428
|
0.00021
|
|
NM_000092.5(COL4A4):c.930+11T>C
|
rs531340239
|
0.00020
|
|
NM_000195.5(HPS1):c.118-19T>A
|
rs758750874
|
0.00020
|
|
NM_000213.5(ITGB4):c.495C>T (p.Ser165=)
|
rs75092172
|
0.00020
|
|
NM_000257.4(MYH7):c.5283+19C>T
|
rs45582836
|
0.00020
|
|
NM_000276.4(OCRL):c.105G>A (p.Arg35=)
|
rs142321728
|
0.00020
|
|
NM_000276.4(OCRL):c.152A>G (p.His51Arg)
|
rs764804719
|
0.00020
|
|
NM_000377.3(WAS):c.1339-18G>A
|
rs370010448
|
0.00020
|
|
NM_000545.8(HNF1A):c.1108-4G>A
|
rs372892932
|
0.00020
|
|
NM_000545.8(HNF1A):c.1377G>A (p.Leu459=)
|
rs118028009
|
0.00020
|
|
NM_000548.5(TSC2):c.1443+15G>A
|
rs182743311
|
0.00020
|
|
NM_000789.4(ACE):c.1317G>T (p.Leu439=)
|
rs140529617
|
0.00020
|
|
NM_001009944.3(PKD1):c.11672G>A (p.Arg3891His)
|
rs950293866
|
0.00020
|
|
NM_001009944.3(PKD1):c.6007G>A (p.Ala2003Thr)
|
rs201599671
|
0.00020
|
|
NM_001009944.3(PKD1):c.6915+19C>T
|
rs371376951
|
0.00020
|
|
NM_001134363.3(RBM20):c.773C>T (p.Ser258Leu)
|
rs749285793
|
0.00020
|
|
NM_001174150.2(ARL13B):c.1032T>C (p.Gly344=)
|
rs561410801
|
0.00020
|
|
NM_001243133.2(NLRP3):c.2703T>G (p.Ala901=)
|
rs138089800
|
0.00020
|
|
NM_001267550.2(TTN):c.10977G>A (p.Ala3659=)
|
rs369327691
|
0.00020
|
|
NM_001349206.2(LPIN1):c.2229G>A (p.Lys743=)
|
rs149684218
|
0.00020
|
|
NM_001379081.2(FREM1):c.4941C>T (p.Tyr1647=)
|
rs373880888
|
0.00020
|
|
NM_001735.3(C5):c.667+8C>G
|
rs375251377
|
0.00020
|
|
NM_001845.6(COL4A1):c.4250-12C>T
|
rs202055679
|
0.00020
|
|
NM_002473.6(MYH9):c.3255C>T (p.Leu1085=)
|
rs142427583
|
0.00020
|
|
NM_003482.4(KMT2D):c.6836G>A (p.Gly2279Glu)
|
rs200578414
|
0.00020
|
|
NM_004247.4(EFTUD2):c.106-17C>T
|
rs190562796
|
0.00020
|
|
NM_004525.3(LRP2):c.10768+12C>T
|
rs17848185
|
0.00020
|
|
NM_004998.4(MYO1E):c.2164+12A>G
|
rs187897054
|
0.00020
|
|
NM_006005.3(WFS1):c.712+8C>T
|
rs369185545
|
0.00020
|
|
NM_006005.3(WFS1):c.762C>T (p.Tyr254=)
|
rs140266808
|
0.00020
|
|
NM_006306.4(SMC1A):c.3438-7C>T
|
rs782796392
|
0.00020
|
|
NM_006412.4(AGPAT2):c.408G>A (p.Gly136=)
|
rs145467496
|
0.00020
|
|
NM_015662.3(IFT172):c.2521+11C>T
|
rs373403495
|
0.00020
|
|
NM_017565.4(FAM20A):c.43C>T (p.Leu15=)
|
rs372862593
|
0.00020
|
|
NM_017570.5(OPLAH):c.2160C>T (p.Ser720=)
|
rs373638784
|
0.00020
|
|
NM_019109.5(ALG1):c.480C>T (p.Gly160=)
|
rs140674382
|
0.00020
|
|
NM_020937.4(FANCM):c.5205G>A (p.Ser1735=)
|
rs138090463
|
0.00020
|
|
NM_021098.3(CACNA1H):c.2452-7C>T
|
rs28365121
|
0.00020
|
|
NM_024312.5(GNPTAB):c.2582G>A (p.Arg861Lys)
|
rs139411012
|
0.00020
|
|
NM_024420.3(PLA2G4A):c.1962T>G (p.Gly654=)
|
rs12720691
|
0.00020
|
|
NM_024753.5(TTC21B):c.468A>G (p.Gly156=)
|
rs139457042
|
0.00020
|
|
NM_032444.4(SLX4):c.465A>G (p.Glu155=)
|
rs138512851
|
0.00020
|
|
NM_033028.5(BBS4):c.1107-11G>C
|
rs373344695
|
0.00020
|
|
NM_033380.3(COL4A5):c.4015+5T>C
|
rs190856675
|
0.00020
|
|
NM_057176.3(BSND):c.548+10T>C
|
rs369882063
|
0.00020
|
|
NM_138694.4(PKHD1):c.2821+10G>A
|
rs367619854
|
0.00020
|
|
NM_144585.4(SLC22A12):c.123G>A (p.Ser41=)
|
rs144313367
|
0.00020
|
|
NM_144997.7(FLCN):c.1176+15T>C
|
rs550870270
|
0.00020
|
|
NM_198252.3(GSN):c.-9-1943G>A
|
rs568885924
|
0.00020
|
|
NM_212482.4(FN1):c.4791C>T (p.Ser1597=)
|
rs374970848
|
0.00020
|
|
NM_000064.4(C3):c.1650C>T (p.Ser550=)
|
rs138835619
|
0.00019
|
|
NM_000064.4(C3):c.1923C>T (p.Asp641=)
|
rs113044084
|
0.00019
|
|
NM_000064.4(C3):c.2354+19C>T
|
rs192942944
|
0.00019
|
|
NM_000078.3(CETP):c.663C>A (p.Ser221Arg)
|
rs201438792
|
0.00019
|
|
NM_000098.3(CPT2):c.399A>G (p.Pro133=)
|
rs375573986
|
0.00019
|
|
NM_000204.5(CFI):c.1430-19G>A
|
rs377117137
|
0.00019
|
|
NM_000213.5(ITGB4):c.309C>A (p.Pro103=)
|
rs763268075
|
0.00019
|
|
NM_000214.3(JAG1):c.2073T>C (p.Cys691=)
|
rs200648035
|
0.00019
|
|
NM_000216.4(ANOS1):c.555G>C (p.Lys185Asn)
|
rs140670828
|
0.00019
|
|
NM_000251.3(MSH2):c.1255C>A (p.Gln419Lys)
|
rs63750006
|
0.00019
|
|
NM_000251.3(MSH2):c.138C>G (p.His46Gln)
|
rs33946261
|
0.00019
|
|
NM_000334.4(SCN4A):c.5037C>T (p.Ile1679=)
|
rs372002602
|
0.00019
|
|
NM_000336.3(SCNN1B):c.1299C>T (p.Ser433=)
|
rs149172890
|
0.00019
|
|
NM_000377.3(WAS):c.1191G>A (p.Pro397=)
|
rs782486251
|
0.00019
|
|
NM_000377.3(WAS):c.1280C>T (p.Pro427Leu)
|
rs782307200
|
0.00019
|
|
NM_000384.3(APOB):c.2937C>T (p.Gly979=)
|
rs145649470
|
0.00019
|
|
NM_000501.4(ELN):c.381G>A (p.Ala127=)
|
rs148216123
|
0.00019
|
|
NM_000548.5(TSC2):c.4662+17G>A
|
rs45443002
|
0.00019
|
|
NM_000944.5(PPP3CA):c.138A>G (p.Leu46=)
|
rs143169609
|
0.00019
|
|
NM_001003722.2(GLE1):c.1731C>T (p.Tyr577=)
|
rs199722904
|
0.00019
|
|
NM_001009944.3(PKD1):c.1602C>T (p.Pro534=)
|
rs759092782
|
0.00019
|
|
NM_001041.4(SI):c.3732C>T (p.Asp1244=)
|
rs200449490
|
0.00019
|
|
NM_001046.3(SLC12A2):c.2511C>T (p.Ile837=)
|
rs1053614
|
0.00019
|
|
NM_001081.4(CUBN):c.10038C>T (p.His3346=)
|
rs113079734
|
0.00019
|
|
NM_001130438.3(SPTAN1):c.7396G>A (p.Asp2466Asn)
|
rs367776636
|
0.00019
|
|
NM_001136193.2(FASTKD2):c.756G>A (p.Gln252=)
|
rs377619612
|
0.00019
|
|
NM_001177316.2(SLC34A3):c.1093+8C>T
|
rs201986644
|
0.00019
|
|
NM_001242896.3(DEPDC5):c.3643G>A (p.Val1215Met)
|
rs201603222
|
0.00019
|
|
NM_001364905.1(LRBA):c.2067+11A>G
|
rs185860143
|
0.00019
|
|
NM_001367561.1(DOCK7):c.6045C>T (p.Pro2015=)
|
rs202231787
|
0.00019
|
|
NM_001376.5(DYNC1H1):c.7463G>A (p.Arg2488His)
|
rs149581331
|
0.00019
|
|
NM_001384732.1(CPLANE1):c.82-14G>A
|
rs180804052
|
0.00019
|
|
NM_001558.4(IL10RA):c.420C>T (p.Leu140=)
|
rs201857411
|
0.00019
|
|
NM_001692.4(ATP6V1B1):c.591C>T (p.Ala197=)
|
rs199914263
|
0.00019
|
|
NM_002335.4(LRP5):c.2358C>T (p.Ile786=)
|
rs140616444
|
0.00019
|
|
NM_002335.4(LRP5):c.4077C>T (p.Pro1359=)
|
rs143482432
|
0.00019
|
|
NM_002661.5(PLCG2):c.171C>T (p.Thr57=)
|
rs374354863
|
0.00019
|
|
NM_003200.5(TCF3):c.823-13C>T
|
rs148835727
|
0.00019
|
|
NM_003392.7(WNT5A):c.522G>T (p.Pro174=)
|
rs559836923
|
0.00019
|
|
NM_004006.3(DMD):c.3379C>G (p.Leu1127Val)
|
rs141887693
|
0.00019
|
|
NM_004371.4(COPA):c.399G>A (p.Gly133=)
|
rs142221638
|
0.00019
|
|
NM_004525.3(LRP2):c.12360C>A (p.Ile4120=)
|
rs150906896
|
0.00019
|
|
NM_004646.4(NPHS1):c.3243C>T (p.Val1081=)
|
rs370276697
|
0.00019
|
|
NM_004795.4(KL):c.1788C>A (p.Ser596=)
|
rs141133607
|
0.00019
|
|
NM_005076.5(CNTN2):c.2844+11A>C
|
rs377297728
|
0.00019
|
|
NM_005461.5(MAFB):c.542A>T (p.Gln181Leu)
|
rs776350709
|
0.00019
|
|
NM_005751.5(AKAP9):c.8161-7G>A
|
rs202218770
|
0.00019
|
|
NM_006005.3(WFS1):c.1377G>A (p.Leu459=)
|
rs143672793
|
0.00019
|
|
NM_006005.3(WFS1):c.315+18G>A
|
rs375473654
|
0.00019
|
|
NM_006306.4(SMC1A):c.1173G>A (p.Gln391=)
|
rs147952638
|
0.00019
|
|
NM_006412.4(AGPAT2):c.189C>T (p.Ile63=)
|
rs150180733
|
0.00019
|
|
NM_006514.4(SCN10A):c.4089+12A>T
|
rs151164057
|
0.00019
|
|
NM_006662.3(SRCAP):c.1135-14C>T
|
rs534965827
|
0.00019
|
|
NM_007214.5(SEC63):c.1210-7T>A
|
rs201986291
|
0.00019
|
|
NM_007294.4(BRCA1):c.827C>G (p.Thr276Arg)
|
rs80357436
|
0.00019
|
|
NM_014009.4(FOXP3):c.874G>A (p.Val292Ile)
|
rs74162067
|
0.00019
|
|
NM_015141.4(GPD1L):c.459C>T (p.Asn153=)
|
rs375532052
|
0.00019
|
|
NM_015158.5(KANK1):c.564A>G (p.Gly188=)
|
rs201155271
|
0.00019
|
|
NM_015331.3(NCSTN):c.437-12C>G
|
rs201416838
|
0.00019
|
|
NM_015443.4(KANSL1):c.620A>G (p.Asn207Ser)
|
rs144882998
|
0.00019
|
|
NM_015559.3(SETBP1):c.2062G>A (p.Val688Ile)
|
rs370618204
|
0.00019
|
|
NM_015662.3(IFT172):c.4815+9G>A
|
rs199667794
|
0.00019
|
|
NM_017415.3(KLHL3):c.904-5C>T
|
rs375172469
|
0.00019
|
|
NM_018979.4(WNK1):c.192C>T (p.Asp64=)
|
rs756914631
|
0.00019
|
|
NM_020964.3(EPG5):c.5631T>C (p.Leu1877=)
|
rs376297358
|
0.00019
|
|
NM_021098.3(CACNA1H):c.4759+8G>A
|
rs199997129
|
0.00019
|
|
NM_022455.5(NSD1):c.6444T>C (p.Asn2148=)
|
rs146601031
|
0.00019
|
|
NM_025074.7(FRAS1):c.11871G>A (p.Arg3957=)
|
rs367585112
|
0.00019
|
|
NM_025074.7(FRAS1):c.8058C>T (p.Asn2686=)
|
rs767860539
|
0.00019
|
|
NM_030665.4(RAI1):c.4295C>T (p.Pro1432Leu)
|
rs201405375
|
0.00019
|
|
NM_030787.4(CFHR5):c.508G>A (p.Val170Met)
|
rs201073457
|
0.00019
|
|
NM_032340.4(UQCC2):c.75G>C (p.Arg25=)
|
rs200426793
|
0.00019
|
|
NM_032444.4(SLX4):c.1389A>G (p.Lys463=)
|
rs376668879
|
0.00019
|
|
NM_033380.3(COL4A5):c.1979C>T (p.Thr660Ile)
|
rs780612276
|
0.00019
|
|
NM_080680.3(COL11A2):c.4230+13C>G
|
rs200051654
|
0.00019
|
|
NM_133379.5(TTN):c.13614A>C (p.Gln4538His)
|
rs139344272
|
0.00019
|
|
NM_138694.4(PKHD1):c.1603-19T>A
|
rs201996881
|
0.00019
|
|
NM_153240.5(NPHP3):c.3812+16A>G
|
rs376029054
|
0.00019
|
|
NM_173543.3(DZIP1L):c.1017A>G (p.Arg339=)
|
rs147201722
|
0.00019
|
|
NM_175875.5(SIX5):c.543C>A (p.Gly181=)
|
rs372584912
|
0.00019
|
|
NM_175914.5(HNF4A):c.576C>T (p.Asp192=)
|
rs759574096
|
0.00019
|
|
NM_198428.3(BBS9):c.886+14T>G
|
rs368019366
|
0.00019
|
|
NM_198578.4(LRRK2):c.45T>C (p.Thr15=)
|
rs142399623
|
0.00019
|
|
NM_212482.4(FN1):c.2413A>G (p.Thr805Ala)
|
rs199957523
|
0.00019
|
|
NM_212482.4(FN1):c.278-18C>T
|
rs57534860
|
0.00019
|
|
NM_000092.5(COL4A4):c.3885T>C (p.Gly1295=)
|
rs199839937
|
0.00018
|
|
NM_000151.4(G6PC1):c.1002C>T (p.Pro334=)
|
rs143991162
|
0.00018
|
|
NM_000213.5(ITGB4):c.2577C>T (p.Ser859=)
|
rs148787870
|
0.00018
|
|
NM_000213.5(ITGB4):c.5307C>T (p.Ser1769=)
|
rs145897252
|
0.00018
|
|
NM_000340.2(SLC2A2):c.1077T>C (p.Leu359=)
|
rs5408
|
0.00018
|
|
NM_000397.4(CYBB):c.1414G>A (p.Gly472Ser)
|
rs13306300
|
0.00018
|
|
NM_000424.4(KRT5):c.110G>A (p.Arg37Gln)
|
rs61747181
|
0.00018
|
|
NM_000490.5(AVP):c.132C>T (p.Cys44=)
|
rs572548414
|
0.00018
|
|
NM_000969.5(RPL5):c.141C>T (p.Pro47=)
|
rs150375325
|
0.00018
|
|
NM_000987.5(RPL26):c.342C>T (p.Asp114=)
|
rs137965122
|
0.00018
|
|
NM_001001433.3(STX16):c.360T>C (p.His120=)
|
rs148962992
|
0.00018
|
|
NM_001002295.2(GATA3):c.591G>A (p.Glu197=)
|
rs372630189
|
0.00018
|
|
NM_001009944.3(PKD1):c.11412-6C>T
|
rs367775096
|
0.00018
|
|
NM_001009944.3(PKD1):c.5064C>T (p.Leu1688=)
|
rs377662680
|
0.00018
|
|
NM_001101.5(ACTB):c.364-4A>G
|
rs763065691
|
0.00018
|
|
NM_001127217.3(SMAD9):c.1260+17A>C
|
rs374987262
|
0.00018
|
|
NM_001177316.2(SLC34A3):c.411G>A (p.Thr137=)
|
rs148026048
|
0.00018
|
|
NM_001184880.2(PCDH19):c.655C>T (p.Leu219=)
|
rs377627937
|
0.00018
|
|
NM_001267550.2(TTN):c.38627-16A>G
|
rs1014728001
|
0.00018
|
|
NM_001377.3(DYNC2H1):c.7719C>T (p.Tyr2573=)
|
rs373903792
|
0.00018
|
|
NM_001572.5(IRF7):c.767-14C>T
|
rs543923618
|
0.00018
|
|
NM_002204.4(ITGA3):c.1047G>A (p.Ala349=)
|
rs201297040
|
0.00018
|
|
NM_002246.3(KCNK3):c.953G>A (p.Arg318His)
|
rs150626749
|
0.00018
|
|
NM_002292.4(LAMB2):c.460-8C>G
|
rs200141829
|
0.00018
|
|
NM_002335.4(LRP5):c.3954C>T (p.Asp1318=)
|
rs201352823
|
0.00018
|
|
NM_002471.4(MYH6):c.4536G>A (p.Ser1512=)
|
rs142539180
|
0.00018
|
|
NM_002838.5(PTPRC):c.596A>G (p.Asn199Ser)
|
rs369311409
|
0.00018
|
|
NM_003718.5(CDK13):c.3955G>A (p.Gly1319Ser)
|
rs147108931
|
0.00018
|
|
NM_003722.5(TP63):c.1599C>T (p.Ser533=)
|
rs758093495
|
0.00018
|
|
NM_004082.5(DCTN1):c.3029+19G>A
|
rs201665169
|
0.00018
|
|
NM_004100.5(EYA4):c.1617-13C>G
|
rs756045097
|
0.00018
|
|
NM_004366.6(CLCN2):c.879A>G (p.Ala293=)
|
rs138937943
|
0.00018
|
|
NM_004924.6(ACTN4):c.2652G>A (p.Ala884=)
|
rs202127035
|
0.00018
|
|
NM_005120.3(MED12):c.4111C>T (p.Pro1371Ser)
|
rs587778437
|
0.00018
|
|
NM_006005.3(WFS1):c.2622C>T (p.Ala874=)
|
rs141052196
|
0.00018
|
|
NM_006642.5(SDCCAG8):c.221-4A>G
|
rs373526073
|
0.00018
|
|
NM_012301.4(MAGI2):c.528G>A (p.Gly176=)
|
rs140651421
|
0.00018
|
|
NM_014270.5(SLC7A9):c.978-18C>T
|
rs200323617
|
0.00018
|
|
NM_014425.5(INVS):c.1785-20T>G
|
rs200028895
|
0.00018
|
|
NM_014714.4(IFT140):c.3543G>A (p.Ser1181=)
|
rs377427370
|
0.00018
|
|
NM_014956.5(CEP164):c.315T>C (p.Thr105=)
|
rs147988387
|
0.00018
|
|
NM_014956.5(CEP164):c.687+15C>T
|
rs200387177
|
0.00018
|
|
NM_017802.4(DNAAF5):c.787C>T (p.Arg263Trp)
|
rs143045012
|
0.00018
|
|
NM_017947.4(MOCOS):c.2175T>G (p.Pro725=)
|
rs151067903
|
0.00018
|
|
NM_020738.4(KIDINS220):c.3318C>T (p.Ser1106=)
|
rs369693571
|
0.00018
|
|
NM_022489.4(INF2):c.2418+10G>T
|
rs748035327
|
0.00018
|
|
NM_024408.4(NOTCH2):c.6486C>T (p.Ser2162=)
|
rs372865598
|
0.00018
|
|
NM_031885.5(BBS2):c.471+17A>G
|
rs200587401
|
0.00018
|
|
NM_032409.3(PINK1):c.153A>G (p.Gly51=)
|
rs967760539
|
0.00018
|
|
NM_032444.4(SLX4):c.2079C>T (p.Val693=)
|
rs150206155
|
0.00018
|
|
NM_032444.4(SLX4):c.4545C>T (p.Asp1515=)
|
rs142851654
|
0.00018
|
|
NM_138694.4(PKHD1):c.6490+8A>G
|
rs201984652
|
0.00018
|
|
NM_174936.4(PCSK9):c.1980C>T (p.Asp660=)
|
rs371914056
|
0.00018
|
|
NM_178170.3(NEK8):c.1263G>A (p.Gly421=)
|
rs147061645
|
0.00018
|
|
NM_182643.3(DLC1):c.2265G>C (p.Thr755=)
|
rs138749997
|
0.00018
|
|
NM_198334.3(GANAB):c.2343C>T (p.Ser781=)
|
rs779306237
|
0.00018
|
|
NM_000092.5(COL4A4):c.2073A>G (p.Pro691=)
|
rs368774059
|
0.00017
|
|
NM_000334.4(SCN4A):c.3318+20C>G
|
rs368263593
|
0.00017
|
|
NM_000435.3(NOTCH3):c.3328-8C>A
|
rs200360207
|
0.00017
|
|
NM_000435.3(NOTCH3):c.3692G>A (p.Arg1231His)
|
rs778176344
|
0.00017
|
|
NM_000516.7(GNAS):c.530+11G>A
|
rs74474807
|
0.00017
|
|
NM_000520.6(HEXA):c.517C>T (p.Leu173=)
|
rs200743199
|
0.00017
|
|
NM_001003841.3(SLC6A19):c.1539-20G>C
|
rs113981520
|
0.00017
|
|
NM_001003841.3(SLC6A19):c.684G>A (p.Thr228=)
|
rs148328575
|
0.00017
|
|
NM_001009944.3(PKD1):c.8046G>A (p.Ser2682=)
|
rs142391112
|
0.00017
|
|
NM_001081.4(CUBN):c.7000+15A>T
|
rs556690868
|
0.00017
|
|
NM_001349206.2(LPIN1):c.2163-10C>T
|
rs189673725
|
0.00017
|
|
NM_001365088.1(SLC12A6):c.1815G>A (p.Pro605=)
|
rs141035492
|
0.00017
|
|
NM_001457.4(FLNB):c.4986C>T (p.Ala1662=)
|
rs200905679
|
0.00017
|
|
NM_001710.6(CFB):c.2100C>T (p.Gly700=)
|
rs116928087
|
0.00017
|
|
NM_001807.6(CEL):c.1677T>C (p.Pro559=)
|
rs527908529
|
0.00017
|
|
NM_001845.6(COL4A1):c.4756-22_4756-5dup
|
rs778511113
|
0.00017
|
|
NM_001845.6(COL4A1):c.958-4del
|
rs773018457
|
0.00017
|
|
NM_002335.4(LRP5):c.2115C>T (p.Asn705=)
|
rs145456776
|
0.00017
|
|
NM_002473.6(MYH9):c.2808G>A (p.Ala936=)
|
rs200550959
|
0.00017
|
|
NM_002473.6(MYH9):c.5483+18C>T
|
rs376924627
|
0.00017
|
|
NM_002473.6(MYH9):c.705+15G>A
|
rs373901192
|
0.00017
|
|
NM_002547.3(OPHN1):c.2362C>T (p.Arg788Trp)
|
rs148208753
|
0.00017
|
|
NM_004333.6(BRAF):c.240+18A>G
|
rs368584855
|
0.00017
|
|
NM_004366.6(CLCN2):c.1491G>A (p.Gly497=)
|
rs138627624
|
0.00017
|
|
NM_004369.4(COL6A3):c.958G>A (p.Ala320Thr)
|
rs115819851
|
0.00017
|
|
NM_004370.6(COL12A1):c.7008C>T (p.Asp2336=)
|
rs377413592
|
0.00017
|
|
NM_004525.3(LRP2):c.828G>A (p.Ser276=)
|
rs146048301
|
0.00017
|
|
NM_004944.4(DNASE1L3):c.444C>T (p.Asp148=)
|
rs370862010
|
0.00017
|
|
NM_005529.7(HSPG2):c.3708G>A (p.Ala1236=)
|
rs202214491
|
0.00017
|
|
NM_005566.4(LDHA):c.594G>C (p.Val198=)
|
rs373534867
|
0.00017
|
|
NM_006005.3(WFS1):c.1755C>T (p.Phe585=)
|
rs1801210
|
0.00017
|
|
NM_006662.3(SRCAP):c.8387T>C (p.Met2796Thr)
|
rs143103128
|
0.00017
|
|
NM_007078.3(LDB3):c.1858-10T>C
|
rs202208256
|
0.00017
|
|
NM_014714.4(IFT140):c.1524+8G>A
|
rs369331038
|
0.00017
|
|
NM_014956.5(CEP164):c.696C>T (p.His232=)
|
rs201189268
|
0.00017
|
|
NM_015922.3(NSDHL):c.987C>T (p.Val329=)
|
rs149122192
|
0.00017
|
|
NM_016111.4(TELO2):c.2376C>T (p.Asp792=)
|
rs200969710
|
0.00017
|
|
NM_016123.4(IRAK4):c.1171C>T (p.Arg391Cys)
|
rs114820168
|
0.00017
|
|
NM_016335.6(PRODH):c.1143C>T (p.Ala381=)
|
rs560442727
|
0.00017
|
|
NM_021098.3(CACNA1H):c.2604-5C>T
|
rs191783113
|
0.00017
|
|
NM_021098.3(CACNA1H):c.3561G>A (p.Gly1187=)
|
rs543668675
|
0.00017
|
|
NM_021098.3(CACNA1H):c.555G>A (p.Glu185=)
|
rs61700478
|
0.00017
|
|
NM_022098.4(XPNPEP3):c.366G>A (p.Leu122=)
|
rs201469402
|
0.00017
|
|
NM_024675.4(PALB2):c.2135C>T (p.Ala712Val)
|
rs141458731
|
0.00017
|
|
NM_025114.4(CEP290):c.1918T>C (p.Leu640=)
|
rs541138095
|
0.00017
|
|
NM_032444.4(SLX4):c.5433C>T (p.Ala1811=)
|
rs142477564
|
0.00017
|
|
NM_138694.4(PKHD1):c.2532C>T (p.Tyr844=)
|
rs150202544
|
0.00017
|
|
NM_152384.3(BBS5):c.468A>G (p.Pro156=)
|
rs200636409
|
0.00017
|
|
NM_152424.4(AMER1):c.742C>A (p.Pro248Thr)
|
rs149688443
|
0.00017
|
|
NM_152722.5(HEPACAM):c.1062C>T (p.Pro354=)
|
rs780208452
|
0.00017
|
|
NM_175875.5(SIX5):c.1462C>T (p.Pro488Ser)
|
rs200487992
|
0.00017
|
|
NM_181776.3(SLC36A2):c.1181-5T>C
|
rs190486100
|
0.00017
|
|
NM_201384.3(PLEC):c.801C>T (p.Asp267=)
|
rs202218097
|
0.00017
|
|
NM_212482.4(FN1):c.2714-11_2714-10del
|
rs371418810
|
0.00017
|
|
NM_000053.4(ATP7B):c.1362A>G (p.Thr454=)
|
rs150018860
|
0.00016
|
|
NM_000069.3(CACNA1S):c.1143C>T (p.Phe381=)
|
rs144883479
|
0.00016
|
|
NM_000069.3(CACNA1S):c.1458G>A (p.Leu486=)
|
rs528563981
|
0.00016
|
|
NM_000069.3(CACNA1S):c.3777G>A (p.Thr1259=)
|
rs147646714
|
0.00016
|
|
NM_000069.3(CACNA1S):c.4026G>A (p.Ser1342=)
|
rs757432785
|
0.00016
|
|
NM_000091.5(COL4A3):c.2391T>C (p.Pro797=)
|
rs187921460
|
0.00016
|
|
NM_000092.5(COL4A4):c.1987+16T>A
|
rs532962885
|
0.00016
|
|
NM_000135.4(FANCA):c.2152-20T>A
|
rs200403206
|
0.00016
|
|
NM_000198.4(HSD3B2):c.124T>C (p.Leu42=)
|
rs370732845
|
0.00016
|
|
NM_000198.4(HSD3B2):c.631C>T (p.Leu211=)
|
rs143038843
|
0.00016
|
|
NM_000249.4(MLH1):c.2101C>A (p.Gln701Lys)
|
rs63750114
|
0.00016
|
|
NM_000255.4(MMUT):c.1084-12C>T
|
rs373027036
|
0.00016
|
|
NM_000264.5(PTCH1):c.4001G>A (p.Ser1334Asn)
|
rs200620662
|
0.00016
|
|
NM_000268.4(NF2):c.114+20G>T
|
rs746868503
|
0.00016
|
|
NM_000278.5(PAX2):c.496+9G>T
|
rs577483360
|
0.00016
|
|
NM_000312.4(PROC):c.1212G>A (p.Gly404=)
|
rs370637632
|
0.00016
|
|
NM_000336.3(SCNN1B):c.1257C>T (p.Asp419=)
|
rs2303155
|
0.00016
|
|
NM_000337.5(SGCD):c.-404G>A
|
rs192662989
|
0.00016
|
|
NM_000343.4(SLC5A1):c.208-8G>A
|
rs199783226
|
0.00016
|
|
NM_000368.5(TSC1):c.1936A>G (p.Met646Val)
|
rs145741748
|
0.00016
|
|
NM_000379.4(XDH):c.2969+8C>T
|
rs374442016
|
0.00016
|
|
NM_000388.4(CASR):c.27C>T (p.Val9=)
|
rs141880581
|
0.00016
|
|
NM_000501.4(ELN):c.249C>T (p.Pro83=)
|
rs565001805
|
0.00016
|
|
NM_000503.6(EYA1):c.1185C>T (p.Asn395=)
|
rs372488542
|
0.00016
|
|
NM_000548.5(TSC2):c.3475C>T (p.Arg1159Trp)
|
rs45517295
|
0.00016
|
|
NM_000548.5(TSC2):c.3888C>T (p.Ser1296=)
|
rs141252704
|
0.00016
|
|
NM_000548.5(TSC2):c.4493+17C>T
|
rs45517345
|
0.00016
|
|
NM_000548.5(TSC2):c.649-9C>G
|
rs781099543
|
0.00016
|
|
NM_000719.7(CACNA1C):c.4957-15C>T
|
rs766975739
|
0.00016
|
|
NM_000785.4(CYP27B1):c.387-8C>A
|
rs375741542
|
0.00016
|
|
NM_001009944.3(PKD1):c.3642A>G (p.Gly1214=)
|
rs767721989
|
0.00016
|
|
NM_001009944.3(PKD1):c.4809C>T (p.Ser1603=)
|
rs146103326
|
0.00016
|
|
NM_001009944.3(PKD1):c.543C>T (p.Val181=)
|
rs1365608859
|
0.00016
|
|
NM_001039141.3(TRIOBP):c.4932C>T (p.Pro1644=)
|
rs192500421
|
0.00016
|
|
NM_001041.4(SI):c.5245C>A (p.Gln1749Lys)
|
rs187532711
|
0.00016
|
|
NM_001046.3(SLC12A2):c.1128C>T (p.Asn376=)
|
rs371700719
|
0.00016
|
|
NM_001081.4(CUBN):c.6039C>T (p.Pro2013=)
|
rs149569558
|
0.00016
|
|
NM_001101.5(ACTB):c.315G>C (p.Leu105=)
|
rs139795454
|
0.00016
|
|
NM_001113378.2(FANCI):c.3051C>T (p.Asn1017=)
|
rs768378979
|
0.00016
|
|
NM_001127222.2(CACNA1A):c.1983T>C (p.Phe661=)
|
rs368033271
|
0.00016
|
|
NM_001142730.3(KCTD1):c.2181C>T (p.Pro727=)
|
rs180735402
|
0.00016
|
|
NM_001148.6(ANK2):c.2080-18G>T
|
rs199937888
|
0.00016
|
|
NM_001163809.2(WDR81):c.2304C>T (p.His768=)
|
rs994508298
|
0.00016
|
|
NM_001164508.2(NEB):c.21270G>T (p.Pro7090=)
|
rs368887173
|
0.00016
|
|
NM_001164665.2(KIAA1549):c.5577C>T (p.Asp1859=)
|
rs762072316
|
0.00016
|
|
NM_001171.6(ABCC6):c.1312G>A (p.Val438Met)
|
rs542502733
|
0.00016
|
|
NM_001171.6(ABCC6):c.4176G>A (p.Gln1392=)
|
rs534017491
|
0.00016
|
|
NM_001172509.2(SATB2):c.1740+12C>T
|
rs201101830
|
0.00016
|
|
NM_001177316.2(SLC34A3):c.876C>T (p.Phe292=)
|
rs202060862
|
0.00016
|
|
NM_001267550.2(TTN):c.40515G>A (p.Pro13505=)
|
rs367958537
|
0.00016
|
|
NM_001291867.2(NHS):c.3310C>T (p.His1104Tyr)
|
rs201263814
|
0.00016
|
|
NM_001330078.2(NRXN1):c.4176T>C (p.Asp1392=)
|
rs201135028
|
0.00016
|
|
NM_001353921.2(ARHGEF9):c.1225A>G (p.Ile409Val)
|
rs56110425
|
0.00016
|
|
NM_001365276.2(TNXB):c.7413T>C (p.Pro2471=)
|
rs375764263
|
0.00016
|
|
NM_001367561.1(DOCK7):c.4491G>A (p.Thr1497=)
|
rs373928701
|
0.00016
|
|
NM_001371596.2(MFSD8):c.864-16A>T
|
rs202196597
|
0.00016
|
|
NM_001378454.1(ALMS1):c.11379T>C (p.Ala3793=)
|
rs377090880
|
0.00016
|
|
NM_001378454.1(ALMS1):c.471T>C (p.Cys157=)
|
rs367648094
|
0.00016
|
|
NM_001735.3(C5):c.4018-18T>A
|
rs762212329
|
0.00016
|
|
NM_001735.3(C5):c.4713A>G (p.Glu1571=)
|
rs141660654
|
0.00016
|
|
NM_001845.6(COL4A1):c.3750G>A (p.Pro1250=)
|
rs372343245
|
0.00016
|
|
NM_001845.6(COL4A1):c.4463-15T>C
|
rs573385917
|
0.00016
|
|
NM_001999.4(FBN2):c.3235G>T (p.Ala1079Ser)
|
rs774996980
|
0.00016
|
|
NM_002292.4(LAMB2):c.2344+14A>T
|
rs369733428
|
0.00016
|
|
NM_002292.4(LAMB2):c.4257T>C (p.Ala1419=)
|
rs149536828
|
0.00016
|
|
NM_002335.4(LRP5):c.2766C>T (p.Gly922=)
|
rs139372523
|
0.00016
|
|
NM_002335.4(LRP5):c.3237-5C>T
|
rs376163277
|
0.00016
|
|
NM_002335.4(LRP5):c.488+11dup
|
rs771667608
|
0.00016
|
|
NM_002471.4(MYH6):c.4812T>C (p.Asp1604=)
|
rs201667127
|
0.00016
|
|
NM_002473.6(MYH9):c.3246G>A (p.Glu1082=)
|
rs147961725
|
0.00016
|
|
NM_002661.5(PLCG2):c.1923C>T (p.His641=)
|
rs374927413
|
0.00016
|
|
NM_002661.5(PLCG2):c.2940G>A (p.Lys980=)
|
rs376216756
|
0.00016
|
|
NM_003392.7(WNT5A):c.807G>A (p.Lys269=)
|
rs117338660
|
0.00016
|
|
NM_003640.5(ELP1):c.3477C>T (p.His1159=)
|
rs141257064
|
0.00016
|
|
NM_003738.5(PTCH2):c.2661C>T (p.His887=)
|
rs149815763
|
0.00016
|
|
NM_004172.5(SLC1A3):c.1425-8G>C
|
rs202233020
|
0.00016
|
|
NM_004304.5(ALK):c.2478C>T (p.Tyr826=)
|
rs142126984
|
0.00016
|
|
NM_004333.6(BRAF):c.1860+16A>G
|
rs368859030
|
0.00016
|
|
NM_004366.6(CLCN2):c.936C>G (p.Leu312=)
|
rs41266267
|
0.00016
|
|
NM_004380.3(CREBBP):c.6138G>A (p.Ala2046=)
|
rs371656213
|
0.00016
|
|
NM_004415.4(DSP):c.7599T>C (p.Ala2533=)
|
rs374266378
|
0.00016
|
|
NM_004525.3(LRP2):c.12072C>T (p.Thr4024=)
|
rs140444992
|
0.00016
|
|
NM_004525.3(LRP2):c.8005+14C>A
|
rs374471253
|
0.00016
|
|
NM_004525.3(LRP2):c.8352G>C (p.Thr2784=)
|
rs200194530
|
0.00016
|
|
NM_004525.3(LRP2):c.8409A>G (p.Val2803=)
|
rs201263376
|
0.00016
|
|
NM_004560.4(ROR2):c.2274G>A (p.Ser758=)
|
rs139915017
|
0.00016
|
|
NM_004560.4(ROR2):c.525G>A (p.Gln175=)
|
rs147616624
|
0.00016
|
|
NM_004646.4(NPHS1):c.2482C>A (p.Arg828=)
|
rs142956465
|
0.00016
|
|
NM_005045.4(RELN):c.8844-20T>C
|
rs142002220
|
0.00016
|
|
NM_005477.3(HCN4):c.2904G>A (p.Pro968=)
|
rs368145651
|
0.00016
|
|
NM_005506.4(SCARB2):c.228C>T (p.Leu76=)
|
rs35069772
|
0.00016
|
|
NM_005515.4(MNX1):c.483C>T (p.His161=)
|
rs1171559580
|
0.00016
|
|
NM_006005.3(WFS1):c.801C>T (p.Asp267=)
|
rs147734431
|
0.00016
|
|
NM_006005.3(WFS1):c.825G>A (p.Ala275=)
|
rs566634291
|
0.00016
|
|
NM_006514.4(SCN10A):c.2709C>T (p.Asp903=)
|
rs368637625
|
0.00016
|
|
NM_006563.5(KLF1):c.259C>G (p.Pro87Ala)
|
rs752204035
|
0.00016
|
|
NM_006642.5(SDCCAG8):c.421-16G>T
|
rs780682849
|
0.00016
|
|
NM_006662.3(SRCAP):c.3519C>T (p.Pro1173=)
|
rs368322185
|
0.00016
|
|
NM_007214.5(SEC63):c.340-8T>C
|
rs1569556
|
0.00016
|
|
NM_012330.4(KAT6B):c.3028C>T (p.Arg1010Trp)
|
rs142309185
|
0.00016
|
|
NM_012330.4(KAT6B):c.5922G>A (p.Ala1974=)
|
rs780751688
|
0.00016
|
|
NM_012330.4(KAT6B):c.6048G>A (p.Thr2016=)
|
rs116978399
|
0.00016
|
|
NM_012431.3(SEMA3E):c.1435C>T (p.Leu479=)
|
rs757610572
|
0.00016
|
|
NM_012431.3(SEMA3E):c.1732G>A (p.Val578Ile)
|
rs200779956
|
0.00016
|
|
NM_014714.4(IFT140):c.2742C>T (p.Ser914=)
|
rs374793763
|
0.00016
|
|
NM_014714.4(IFT140):c.3874-17G>A
|
rs376776316
|
0.00016
|
|
NM_015102.5(NPHP4):c.3817-20C>T
|
rs573999865
|
0.00016
|
|
NM_015141.4(GPD1L):c.1038C>T (p.Ser346=)
|
rs147092668
|
0.00016
|
|
NM_015272.5(RPGRIP1L):c.2448G>A (p.Val816=)
|
rs140241814
|
0.00016
|
|
NM_015570.4(AUTS2):c.188C>A (p.Pro63Gln)
|
rs199945820
|
0.00016
|
|
NM_016058.5(TPRKB):c.390G>A (p.Gln130=)
|
rs144417465
|
0.00016
|
|
NM_017415.3(KLHL3):c.1401C>A (p.Thr467=)
|
rs35420153
|
0.00016
|
|
NM_017662.5(TRPM6):c.2649T>C (p.Ala883=)
|
rs373991938
|
0.00016
|
|
NM_017947.4(MOCOS):c.891G>A (p.Ala297=)
|
rs368463866
|
0.00016
|
|
NM_018062.4(FANCL):c.97-11A>G
|
rs201875132
|
0.00016
|
|
NM_018112.3(TMEM38B):c.875A>G (p.Ter292=)
|
rs145425586
|
0.00016
|
|
NM_018979.4(WNK1):c.3490-4A>G
|
rs143557702
|
0.00016
|
|
NM_019109.5(ALG1):c.361A>C (p.Arg121=)
|
rs149695050
|
0.00016
|
|
NM_019109.5(ALG1):c.477T>C (p.Tyr159=)
|
rs145487895
|
0.00016
|
|
NM_021098.3(CACNA1H):c.1005C>T (p.Asn335=)
|
rs59027754
|
0.00016
|
|
NM_021098.3(CACNA1H):c.2790-5C>T
|
rs369327243
|
0.00016
|
|
NM_021098.3(CACNA1H):c.5174-5C>T
|
rs199536335
|
0.00016
|
|
NM_021098.3(CACNA1H):c.5340C>T (p.Asn1780=)
|
rs375620368
|
0.00016
|
|
NM_021224.6(ZNF462):c.5206A>G (p.Ile1736Val)
|
rs192125496
|
0.00016
|
|
NM_022042.4(SLC26A1):c.1785G>A (p.Pro595=)
|
rs148200047
|
0.00016
|
|
NM_022437.3(ABCG8):c.384G>A (p.Lys128=)
|
rs764690028
|
0.00016
|
|
NM_022455.5(NSD1):c.7421A>C (p.Gln2474Pro)
|
rs202220730
|
0.00016
|
|
NM_024408.4(NOTCH2):c.2480-4C>G
|
rs201770901
|
0.00016
|
|
NM_025074.7(FRAS1):c.4308+10G>T
|
rs146718957
|
0.00016
|
|
NM_025074.7(FRAS1):c.687+20A>G
|
rs779551290
|
0.00016
|
|
NM_032122.5(DTNBP1):c.512-16T>C
|
rs112527545
|
0.00016
|
|
NM_033022.4(RPS24):c.235C>T (p.Leu79=)
|
rs192994060
|
0.00016
|
|
NM_057176.3(BSND):c.9C>T (p.Asp3=)
|
rs141111550
|
0.00016
|
|
NM_138413.4(HOGA1):c.579G>A (p.Val193=)
|
rs142057128
|
0.00016
|
|
NM_138413.4(HOGA1):c.715G>A (p.Val239Ile)
|
rs189919790
|
0.00016
|
|
NM_138694.4(PKHD1):c.8951-19G>A
|
rs200025399
|
0.00016
|
|
NM_144997.7(FLCN):c.1062+7G>A
|
rs540198776
|
0.00016
|
|
NM_144997.7(FLCN):c.1278C>T (p.Ile426=)
|
rs41459448
|
0.00016
|
|
NM_152296.5(ATP1A3):c.2419-7C>T
|
rs187436315
|
0.00016
|
|
NM_152641.4(ARID2):c.180C>T (p.Phe60=)
|
rs200775326
|
0.00016
|
|
NM_153603.4(COG7):c.811-14C>G
|
rs545654100
|
0.00016
|
|
NM_170606.3(KMT2C):c.10980G>A (p.Ser3660=)
|
rs201190450
|
0.00016
|
|
NM_173854.6(SLC41A1):c.1161A>G (p.Gln387=)
|
rs145225878
|
0.00016
|
|
NM_183357.3(ADCY5):c.242C>T (p.Pro81Leu)
|
rs77439349
|
0.00016
|
|
NM_198334.3(GANAB):c.2253G>A (p.Ala751=)
|
rs200456484
|
0.00016
|
|
NM_212482.4(FN1):c.1820-16A>G
|
rs72943927
|
0.00016
|
|
NM_213655.5(WNK1):c.2772A>G (p.Glu924=)
|
rs371538921
|
0.00016
|
|
NM_000085.5(CLCNKB):c.2016+19C>T
|
rs575143198
|
0.00015
|
|
NM_000092.5(COL4A4):c.2717-17T>C
|
rs183421243
|
0.00015
|
|
NM_000204.5(CFI):c.1581C>T (p.Gly527=)
|
rs181378677
|
0.00015
|
|
NM_000214.3(JAG1):c.2497G>A (p.Ala833Thr)
|
rs574205422
|
0.00015
|
|
NM_000216.4(ANOS1):c.1745T>C (p.Met582Thr)
|
rs368339876
|
0.00015
|
|
NM_000216.4(ANOS1):c.72G>A (p.Ala24=)
|
rs764457546
|
0.00015
|
|
NM_000217.3(KCNA1):c.114C>T (p.Arg38=)
|
rs146308797
|
0.00015
|
|
NM_000249.4(MLH1):c.1820T>A (p.Leu607His)
|
rs41295284
|
0.00015
|
|
NM_000271.5(NPC1):c.445G>A (p.Gly149Arg)
|
rs143205855
|
0.00015
|
|
NM_000514.4(GDNF):c.222A>G (p.Arg74=)
|
rs139694199
|
0.00015
|
|
NM_000527.5(LDLR):c.165C>G (p.Gly55=)
|
rs150644181
|
0.00015
|
|
NM_000535.7(PMS2):c.1467G>A (p.Glu489=)
|
rs542522853
|
0.00015
|
|
NM_000548.5(TSC2):c.4809C>T (p.Asp1603=)
|
rs147578602
|
0.00015
|
|
NM_001009944.3(PKD1):c.10161C>T (p.His3387=)
|
rs143350197
|
0.00015
|
|
NM_001009944.3(PKD1):c.7683C>T (p.Ala2561=)
|
rs530703053
|
0.00015
|
|
NM_001009944.3(PKD1):c.8100A>G (p.Ala2700=)
|
rs372759889
|
0.00015
|
|
NM_001009944.3(PKD1):c.8176C>T (p.Leu2726=)
|
rs573754849
|
0.00015
|
|
NM_001018115.3(FANCD2):c.4206A>G (p.Gln1402=)
|
rs745841768
|
0.00015
|
|
NM_001018115.3(FANCD2):c.888+9T>C
|
rs777620616
|
0.00015
|
|
NM_001023570.4(IQCB1):c.1311A>G (p.Lys437=)
|
rs142536967
|
0.00015
|
|
NM_001041.4(SI):c.5108+16A>G
|
rs149803140
|
0.00015
|
|
NM_001081.4(CUBN):c.5130C>T (p.Ser1710=)
|
rs750798030
|
0.00015
|
|
NM_001099922.3(ALG13):c.2654T>C (p.Ile885Thr)
|
rs781459134
|
0.00015
|
|
NM_001110792.2(MECP2):c.1293C>T (p.Pro431=)
|
rs199540575
|
0.00015
|
|
NM_001113378.2(FANCI):c.446-6T>G
|
rs377255054
|
0.00015
|
|
NM_001126108.2(SLC12A3):c.2368+8C>A
|
rs140236327
|
0.00015
|
|
NM_001127898.4(CLCN5):c.1422G>A (p.Glu474=)
|
rs199594074
|
0.00015
|
|
NM_001134831.2(AHI1):c.3588+15A>T
|
rs370223538
|
0.00015
|
|
NM_001190274.2(FBXO11):c.1617-4A>G
|
rs570549776
|
0.00015
|
|
NM_001366110.1(PAX4):c.563-11G>A
|
rs376403180
|
0.00015
|
|
NM_001370259.2(MEN1):c.1508G>A (p.Gly503Asp)
|
rs375804228
|
0.00015
|
|
NM_001378454.1(ALMS1):c.3945G>A (p.Ala1315=)
|
rs201474138
|
0.00015
|
|
NM_001458.5(FLNC):c.7136-6C>A
|
rs368292177
|
0.00015
|
|
NM_001844.5(COL2A1):c.4419C>T (p.Pro1473=)
|
rs775923357
|
0.00015
|
|
NM_001845.6(COL4A1):c.807+3C>T
|
rs192723236
|
0.00015
|
|
NM_002471.4(MYH6):c.3732+13C>T
|
rs369889994
|
0.00015
|
|
NM_002473.6(MYH9):c.2295C>T (p.Ala765=)
|
rs150133983
|
0.00015
|
|
NM_002474.3(MYH11):c.1317C>T (p.Arg439=)
|
rs183292376
|
0.00015
|
|
NM_003611.3(OFD1):c.2235C>T (p.Ser745=)
|
rs372503752
|
0.00015
|
|
NM_004380.3(CREBBP):c.2846C>T (p.Pro949Leu)
|
rs147083140
|
0.00015
|
|
NM_004380.3(CREBBP):c.833A>C (p.Gln278Pro)
|
rs577305576
|
0.00015
|
|
NM_004482.4(GALNT3):c.504T>C (p.Thr168=)
|
rs183709224
|
0.00015
|
|
NM_004525.3(LRP2):c.12461+20C>T
|
rs368683982
|
0.00015
|
|
NM_004525.3(LRP2):c.6040+9T>C
|
rs185280219
|
0.00015
|
|
NM_004525.3(LRP2):c.7743G>T (p.Thr2581=)
|
rs140698184
|
0.00015
|
|
NM_004560.4(ROR2):c.2613A>C (p.Thr871=)
|
rs751280391
|
0.00015
|
|
NM_004589.4(SCO1):c.702C>T (p.Val234=)
|
rs199687831
|
0.00015
|
|
NM_004589.4(SCO1):c.753C>T (p.Asp251=)
|
rs151112594
|
0.00015
|
|
NM_004646.4(NPHS1):c.1104G>A (p.Pro368=)
|
rs143178785
|
0.00015
|
|
NM_004998.4(MYO1E):c.1734A>G (p.Lys578=)
|
rs200987052
|
0.00015
|
|
NM_006306.4(SMC1A):c.1098G>A (p.Thr366=)
|
rs140585416
|
0.00015
|
|
NM_012120.3(CD2AP):c.1417+19C>T
|
rs185609509
|
0.00015
|
|
NM_015662.3(IFT172):c.5187C>T (p.Asp1729=)
|
rs143671920
|
0.00015
|
|
NM_017565.4(FAM20A):c.1472C>T (p.Thr491Ile)
|
rs182816928
|
0.00015
|
|
NM_017636.4(TRPM4):c.2535C>G (p.Pro845=)
|
rs560849729
|
0.00015
|
|
NM_017662.5(TRPM6):c.3288C>T (p.His1096=)
|
rs138479474
|
0.00015
|
|
NM_017947.4(MOCOS):c.2082G>A (p.Leu694=)
|
rs748662002
|
0.00015
|
|
NM_020433.5(JPH2):c.579C>T (p.Pro193=)
|
rs534491843
|
0.00015
|
|
NM_021098.3(CACNA1H):c.2580C>T (p.Phe860=)
|
rs374317639
|
0.00015
|
|
NM_021098.3(CACNA1H):c.3012T>C (p.Tyr1004=)
|
rs537043174
|
0.00015
|
|
NM_021098.3(CACNA1H):c.6545G>A (p.Arg2182His)
|
rs200724225
|
0.00015
|
|
NM_021098.3(CACNA1H):c.915C>T (p.Ile305=)
|
rs370836939
|
0.00015
|
|
NM_022489.4(INF2):c.1736-6C>T
|
rs371991103
|
0.00015
|
|
NM_024675.4(PALB2):c.1794G>A (p.Leu598=)
|
rs182494675
|
0.00015
|
|
NM_024685.4(BBS10):c.1923C>T (p.Pro641=)
|
rs201449351
|
0.00015
|
|
NM_032444.4(SLX4):c.5403G>C (p.Leu1801=)
|
rs577770118
|
0.00015
|
|
NM_052989.3(IFT122):c.3027C>T (p.Leu1009=)
|
rs373152133
|
0.00015
|
|
NM_053025.4(MYLK):c.2023G>A (p.Gly675Arg)
|
rs147008323
|
0.00015
|
|
NM_138694.4(PKHD1):c.588G>A (p.Arg196=)
|
rs201773743
|
0.00015
|
|
NM_144670.6(A2ML1):c.3395C>T (p.Thr1132Ile)
|
rs201093464
|
0.00015
|
|
NM_153240.5(NPHP3):c.3126-8T>G
|
rs201592109
|
0.00015
|
|
NM_212482.4(FN1):c.3012G>A (p.Gln1004=)
|
rs142994783
|
0.00015
|
|
NM_000020.3(ACVRL1):c.652C>T (p.Arg218Trp)
|
rs199874575
|
0.00014
|
|
NM_000064.4(C3):c.1722G>A (p.Gln574=)
|
rs140143815
|
0.00014
|
|
NM_000091.5(COL4A3):c.2125+14T>A
|
rs563131123
|
0.00014
|
|
NM_000091.5(COL4A3):c.3132A>C (p.Pro1044=)
|
rs554940562
|
0.00014
|
|
NM_000166.6(GJB1):c.688C>T (p.Arg230Cys)
|
rs587781246
|
0.00014
|
|
NM_000206.3(IL2RG):c.857C>T (p.Thr286Met)
|
rs767758983
|
0.00014
|
|
NM_000210.4(ITGA6):c.2538C>T (p.Leu846=)
|
rs181814375
|
0.00014
|
|
NM_000218.3(KCNQ1):c.1110G>A (p.Ala370=)
|
rs1805118
|
0.00014
|
|
NM_000222.3(KIT):c.2502G>A (p.Lys834=)
|
rs146992614
|
0.00014
|
|
NM_000255.4(MMUT):c.2124+16A>G
|
rs376257828
|
0.00014
|
|
NM_000257.4(MYH7):c.4170-8C>A
|
rs199632504
|
0.00014
|
|
NM_000276.4(OCRL):c.2415C>T (p.Tyr805=)
|
rs377180274
|
0.00014
|
|
NM_000297.4(PKD2):c.2583C>T (p.Asp861=)
|
rs369520452
|
0.00014
|
|
NM_000301.5(PLG):c.36A>G (p.Leu12=)
|
rs371469289
|
0.00014
|
|
NM_000368.5(TSC1):c.1333+13C>T
|
rs118203516
|
0.00014
|
|
NM_000376.3(VDR):c.1206C>A (p.Arg402=)
|
rs2229829
|
0.00014
|
|
NM_000447.3(PSEN2):c.886+16G>A
|
rs202005802
|
0.00014
|
|
NM_000458.4(HNF1B):c.1046-12G>A
|
rs201751705
|
0.00014
|
|
NM_000497.4(CYP11B1):c.89G>A (p.Arg30Gln)
|
rs201103987
|
0.00014
|
|
NM_000546.6(TP53):c.672+18G>C
|
rs199578278
|
0.00014
|
|
NM_000548.5(TSC2):c.1947-3C>T
|
rs201106259
|
0.00014
|
|
NM_001003841.3(SLC6A19):c.774+10C>T
|
rs372657226
|
0.00014
|
|
NM_001009944.3(PKD1):c.8367C>T (p.Asp2789=)
|
rs764827551
|
0.00014
|
|
NM_001018115.3(FANCD2):c.571-19A>T
|
rs141566218
|
0.00014
|
|
NM_001039660.2(IL18BP):c.67G>A (p.Val23Ile)
|
rs189514886
|
0.00014
|
|
NM_001041.4(SI):c.5109-15A>C
|
rs371915462
|
0.00014
|
|
NM_001042492.3(NF1):c.3871-15C>T
|
rs200104394
|
0.00014
|
|
NM_001081.4(CUBN):c.1112-12A>G
|
rs762175932
|
0.00014
|
|
NM_001081.4(CUBN):c.2922C>T (p.Phe974=)
|
rs201802902
|
0.00014
|
|
NM_001081.4(CUBN):c.8913C>T (p.Ser2971=)
|
rs370685424
|
0.00014
|
|
NM_001122955.4(BSCL2):c.133G>A (p.Gly45Ser)
|
rs3763853
|
0.00014
|
|
NM_001136193.2(FASTKD2):c.1255-7T>C
|
rs757255885
|
0.00014
|
|
NM_001148.6(ANK2):c.2249A>G (p.Gln750Arg)
|
rs371787039
|
0.00014
|
|
NM_001171.6(ABCC6):c.3363G>A (p.Ser1121=)
|
rs145693403
|
0.00014
|
|
NM_001177316.2(SLC34A3):c.304+20C>T
|
rs199652389
|
0.00014
|
|
NM_001204.7(BMPR2):c.726C>T (p.Asn242=)
|
rs151044452
|
0.00014
|
|
NM_001243133.2(NLRP3):c.1623G>A (p.Arg541=)
|
rs756547568
|
0.00014
|
|
NM_001267550.2(TTN):c.15333C>T (p.Asp5111=)
|
rs368695667
|
0.00014
|
|
NM_001365276.2(TNXB):c.7417C>T (p.Arg2473Cys)
|
rs373029180
|
0.00014
|
|
NM_001366110.1(PAX4):c.345G>A (p.Gln115=)
|
rs115157546
|
0.00014
|
|
NM_001378452.1(ITPR1):c.3669G>A (p.Val1223=)
|
rs201263269
|
0.00014
|
|
NM_001378454.1(ALMS1):c.9633G>A (p.Lys3211=)
|
rs373013570
|
0.00014
|
|
NM_001379200.1(TBX1):c.1178C>A (p.Pro393Gln)
|
rs918788695
|
0.00014
|
|
NM_001384732.1(CPLANE1):c.420T>C (p.Leu140=)
|
rs1056117590
|
0.00014
|
|
NM_001735.3(C5):c.2715T>C (p.Ile905=)
|
rs139794186
|
0.00014
|
|
NM_001753.5(CAV1):c.129C>T (p.Asp43=)
|
rs201261029
|
0.00014
|
|
NM_001753.5(CAV1):c.357C>T (p.Phe119=)
|
rs201302545
|
0.00014
|
|
NM_001845.6(COL4A1):c.4151-20T>C
|
rs112561721
|
0.00014
|
|
NM_001845.6(COL4A1):c.4845G>A (p.Glu1615=)
|
rs142326550
|
0.00014
|
|
NM_001963.6(EGF):c.3099C>T (p.Val1033=)
|
rs144628857
|
0.00014
|
|
NM_002067.5(GNA11):c.570C>T (p.Ile190=)
|
rs201668624
|
0.00014
|
|
NM_002230.4(JUP):c.84G>A (p.Ser28=)
|
rs144137028
|
0.00014
|
|
NM_002334.4(LRP4):c.4584-4G>A
|
rs368518969
|
0.00014
|
|
NM_002661.5(PLCG2):c.2148C>T (p.Leu716=)
|
rs367677388
|
0.00014
|
|
NM_003361.4(UMOD):c.504C>T (p.Leu168=)
|
rs369454700
|
0.00014
|
|
NM_003491.4(NAA10):c.179+20G>A
|
rs199988253
|
0.00014
|
|
NM_003718.5(CDK13):c.1347G>T (p.Leu449=)
|
rs150303277
|
0.00014
|
|
NM_004004.6(GJB2):c.368C>A (p.Thr123Asn)
|
rs111033188
|
0.00014
|
|
NM_004366.6(CLCN2):c.1548C>A (p.Ser516=)
|
rs370266713
|
0.00014
|
|
NM_004525.3(LRP2):c.7296A>G (p.Arg2432=)
|
rs370035430
|
0.00014
|
|
NM_004562.3(PRKN):c.837C>T (p.His279=)
|
rs149433924
|
0.00014
|
|
NM_004595.5(SMS):c.114G>A (p.Ser38=)
|
rs138924455
|
0.00014
|
|
NM_004646.4(NPHS1):c.1155G>A (p.Glu385=)
|
rs139509052
|
0.00014
|
|
NM_004646.4(NPHS1):c.2874G>T (p.Gly958=)
|
rs752337753
|
0.00014
|
|
NM_004655.4(AXIN2):c.1975C>T (p.Arg659Trp)
|
rs142670753
|
0.00014
|
|
NM_004795.4(KL):c.738C>T (p.His246=)
|
rs756551415
|
0.00014
|
|
NM_004933.3(CDH15):c.2369C>T (p.Ala790Val)
|
rs146594802
|
0.00014
|
|
NM_005157.6(ABL1):c.2117G>T (p.Gly706Val)
|
rs34634745
|
0.00014
|
|
NM_005506.4(SCARB2):c.424-5C>T
|
rs192876326
|
0.00014
|
|
NM_005566.4(LDHA):c.558T>C (p.His186=)
|
rs570034363
|
0.00014
|
|
NM_005751.5(AKAP9):c.7212C>T (p.Thr2404=)
|
rs146854871
|
0.00014
|
|
NM_006642.5(SDCCAG8):c.929+17G>A
|
rs376439930
|
0.00014
|
|
NM_006662.3(SRCAP):c.3676C>G (p.Leu1226Val)
|
rs201583296
|
0.00014
|
|
NM_006662.3(SRCAP):c.492+12G>A
|
rs200528955
|
0.00014
|
|
NM_006662.3(SRCAP):c.7536A>C (p.Thr2512=)
|
rs777936953
|
0.00014
|
|
NM_006766.5(KAT6A):c.600+5G>T
|
rs138578452
|
0.00014
|
|
NM_006929.5(SKIC2):c.585C>T (p.Asp195=)
|
rs145042380
|
0.00014
|
|
NM_012330.4(KAT6B):c.1994-20C>T
|
rs373239366
|
0.00014
|
|
NM_012330.4(KAT6B):c.4659C>T (p.Ser1553=)
|
rs147158118
|
0.00014
|
|
NM_013352.4(DSE):c.240C>T (p.Ser80=)
|
rs143347973
|
0.00014
|
|
NM_015713.5(RRM2B):c.790-8C>A
|
rs376542259
|
0.00014
|
|
NM_016335.6(PRODH):c.873C>T (p.Ile291=)
|
rs146652616
|
0.00014
|
|
NM_017415.3(KLHL3):c.1321+10C>T
|
rs145091610
|
0.00014
|
|
NM_017565.4(FAM20A):c.792C>T (p.Ile264=)
|
rs139591838
|
0.00014
|
|
NM_017570.5(OPLAH):c.714C>T (p.Asp238=)
|
rs372974283
|
0.00014
|
|
NM_017662.5(TRPM6):c.5709G>A (p.Leu1903=)
|
rs143047185
|
0.00014
|
|
NM_017837.4(PIGV):c.473G>A (p.Ser158Asn)
|
rs201332799
|
0.00014
|
|
NM_017947.4(MOCOS):c.1798-19C>T
|
rs201335005
|
0.00014
|
|
NM_018062.4(FANCL):c.1021-6T>C
|
rs377052216
|
0.00014
|
|
NM_018979.4(WNK1):c.1044C>T (p.Arg348=)
|
rs201400797
|
0.00014
|
|
NM_020822.3(KCNT1):c.3317G>A (p.Arg1106Gln)
|
rs561255614
|
0.00014
|
|
NM_020937.4(FANCM):c.5341-19G>A
|
rs375732305
|
0.00014
|
|
NM_020975.6(RET):c.1668C>G (p.Ser556=)
|
rs141771814
|
0.00014
|
|
NM_020975.6(RET):c.3006C>T (p.Ser1002=)
|
rs370970483
|
0.00014
|
|
NM_021098.3(CACNA1H):c.1068C>T (p.Asn356=)
|
rs369894677
|
0.00014
|
|
NM_021098.3(CACNA1H):c.2583C>T (p.Asp861=)
|
rs368201539
|
0.00014
|
|
NM_021098.3(CACNA1H):c.3969+12A>G
|
rs200138472
|
0.00014
|
|
NM_021098.3(CACNA1H):c.6849C>T (p.Asp2283=)
|
rs369051137
|
0.00014
|
|
NM_022042.4(SLC26A1):c.315C>G (p.Ser105=)
|
rs377636525
|
0.00014
|
|
NM_022455.5(NSD1):c.2339C>T (p.Ser780Leu)
|
rs201327209
|
0.00014
|
|
NM_022489.4(INF2):c.306C>T (p.Val102=)
|
rs748335660
|
0.00014
|
|
NM_022489.4(INF2):c.3684G>A (p.Arg1228=)
|
rs189263181
|
0.00014
|
|
NM_022773.4(LMF1):c.1471G>A (p.Asp491Asn)
|
rs532127028
|
0.00014
|
|
NM_023110.3(FGFR1):c.2298C>T (p.Tyr766=)
|
rs376173540
|
0.00014
|
|
NM_024514.5(CYP2R1):c.1330+17G>A
|
rs782405402
|
0.00014
|
|
NM_024685.4(BBS10):c.1050A>G (p.Pro350=)
|
rs370953693
|
0.00014
|
|
NM_024757.5(EHMT1):c.2025C>T (p.Ala675=)
|
rs367662089
|
0.00014
|
|
NM_025074.7(FRAS1):c.4362C>T (p.Ile1454=)
|
rs367736746
|
0.00014
|
|
NM_025114.4(CEP290):c.3135A>G (p.Lys1045=)
|
rs370622537
|
0.00014
|
|
NM_025114.4(CEP290):c.4317A>C (p.Thr1439=)
|
rs375966721
|
0.00014
|
|
NM_025132.4(WDR19):c.3435C>T (p.Ser1145=)
|
rs200659514
|
0.00014
|
|
NM_030943.4(AMN):c.603C>A (p.Gly201=)
|
rs535197788
|
0.00014
|
|
NM_032387.5(WNK4):c.92C>A (p.Ala31Glu)
|
rs370527167
|
0.00014
|
|
NM_032409.3(PINK1):c.177C>T (p.Val59=)
|
rs766471374
|
0.00014
|
|
NM_033380.3(COL4A5):c.4117C>A (p.Gln1373Lys)
|
rs147447379
|
0.00014
|
|
NM_052989.3(IFT122):c.2715C>T (p.Ala905=)
|
rs143748879
|
0.00014
|
|
NM_057176.3(BSND):c.282C>T (p.Pro94=)
|
rs776609285
|
0.00014
|
|
NM_173551.5(ANKS6):c.2142+14G>T
|
rs545751955
|
0.00014
|
|
NM_175875.5(SIX5):c.1042C>T (p.Leu348=)
|
rs779368770
|
0.00014
|
|
NM_175875.5(SIX5):c.492C>T (p.Tyr164=)
|
rs372293937
|
0.00014
|
|
NM_178452.6(DNAAF1):c.1377T>A (p.Asp459Glu)
|
rs761136963
|
0.00014
|
|
NM_212482.4(FN1):c.1217-11G>A
|
rs374987974
|
0.00014
|
|
NM_213655.5(WNK1):c.3108G>A (p.Ala1036=)
|
rs373052154
|
0.00014
|
|
NM_000039.3(APOA1):c.200+19G>A
|
rs377408912
|
0.00013
|
|
NM_000039.3(APOA1):c.726G>C (p.Leu242=)
|
rs567268961
|
0.00013
|
|
NM_000069.3(CACNA1S):c.4176C>G (p.Ser1392=)
|
rs200935259
|
0.00013
|
|
NM_000085.5(CLCNKB):c.1080G>A (p.Ser360=)
|
rs140705060
|
0.00013
|
|
NM_000085.5(CLCNKB):c.1689A>G (p.Pro563=)
|
rs185493054
|
0.00013
|
|
NM_000091.5(COL4A3):c.442-15T>C
|
rs770450269
|
0.00013
|
|
NM_000091.5(COL4A3):c.468+8A>G
|
rs374368957
|
0.00013
|
|
NM_000092.5(COL4A4):c.1428C>T (p.Pro476=)
|
rs185847845
|
0.00013
|
|
NM_000092.5(COL4A4):c.2346A>G (p.Lys782=)
|
rs199838682
|
0.00013
|
|
NM_000168.6(GLI3):c.168C>T (p.Asn56=)
|
rs376845825
|
0.00013
|
|
NM_000202.8(IDS):c.103+7C>T
|
rs369735286
|
0.00013
|
|
NM_000214.3(JAG1):c.526G>A (p.Val176Ile)
|
rs199674138
|
0.00013
|
|
NM_000238.4(KCNH2):c.473-7C>T
|
rs146570628
|
0.00013
|
|
NM_000251.3(MSH2):c.505A>G (p.Ile169Val)
|
rs63750716
|
0.00013
|
|
NM_000276.4(OCRL):c.1587C>G (p.Ala529=)
|
rs375634816
|
0.00013
|
|
NM_000285.4(PEPD):c.858C>T (p.Ser286=)
|
rs375354020
|
0.00013
|
|
NM_000314.6(PTEN):c.-909T>C
|
rs550385924
|
0.00013
|
|
NM_000338.3(SLC12A1):c.2281C>A (p.Arg761=)
|
rs199877869
|
0.00013
|
|
NM_000368.5(TSC1):c.2502+18A>C
|
rs200908079
|
0.00013
|
|
NM_000379.4(XDH):c.1617G>T (p.Leu539=)
|
rs117399514
|
0.00013
|
|
NM_000379.4(XDH):c.1785C>T (p.Asp595=)
|
rs140066757
|
0.00013
|
|
NM_000400.4(ERCC2):c.1317C>T (p.Asp439=)
|
rs200588470
|
0.00013
|
|
NM_000497.4(CYP11B1):c.395+10G>A
|
rs768465089
|
0.00013
|
|
NM_000516.7(GNAS):c.1038+17_1038+20del
|
rs773644530
|
0.00013
|
|
NM_000516.7(GNAS):c.213-11C>T
|
rs369370389
|
0.00013
|
|
NM_000789.4(ACE):c.3321T>G (p.Thr1107=)
|
rs144974035
|
0.00013
|
|
NM_001009944.3(PKD1):c.5070C>T (p.Ala1690=)
|
rs183090717
|
0.00013
|
|
NM_001009944.3(PKD1):c.726T>C (p.Phe242=)
|
rs750727364
|
0.00013
|
|
NM_001009944.3(PKD1):c.7848C>T (p.Val2616=)
|
rs143124196
|
0.00013
|
|
NM_001014.5(RPS10):c.351C>T (p.Leu117=)
|
rs376353902
|
0.00013
|
|
NM_001018115.3(FANCD2):c.206-20C>A
|
rs200170760
|
0.00013
|
|
NM_001018115.3(FANCD2):c.2754A>G (p.Leu918=)
|
rs149395670
|
0.00013
|
|
NM_001037333.3(CYFIP2):c.3405C>T (p.Phe1135=)
|
rs267600516
|
0.00013
|
|
NM_001127222.2(CACNA1A):c.7328C>T (p.Ala2443Val)
|
rs763414737
|
0.00013
|
|
NM_001127649.3(PEX26):c.501G>A (p.Val167=)
|
rs201666490
|
0.00013
|
|
NM_001127898.4(CLCN5):c.1223G>A (p.Arg408His)
|
rs781790886
|
0.00013
|
|
NM_001136193.2(FASTKD2):c.207A>G (p.Gln69=)
|
rs144137525
|
0.00013
|
|
NM_001164277.2(SLC37A4):c.148+20G>A
|
rs782050642
|
0.00013
|
|
NM_001177316.2(SLC34A3):c.1431C>T (p.Phe477=)
|
rs150176604
|
0.00013
|
|
NM_001267550.2(TTN):c.78991C>A (p.Arg26331=)
|
rs779996703
|
0.00013
|
|
NM_001289104.2(PRKCSH):c.1392C>T (p.His464=)
|
rs200928002
|
0.00013
|
|
NM_001289104.2(PRKCSH):c.752C>T (p.Ala251Val)
|
rs138530475
|
0.00013
|
|
NM_001330360.2(POLA1):c.4383C>T (p.Phe1461=)
|
rs150514156
|
0.00013
|
|
NM_001378454.1(ALMS1):c.10218C>T (p.Ser3406=)
|
rs754938453
|
0.00013
|
|
NM_002471.4(MYH6):c.4526-9G>C
|
rs201785356
|
0.00013
|
|
NM_002474.3(MYH11):c.633+1900G>A
|
rs371799677
|
0.00013
|
|
NM_002500.5(NEUROD1):c.195C>T (p.Asp65=)
|
rs147643871
|
0.00013
|
|
NM_002661.5(PLCG2):c.1116T>C (p.His372=)
|
rs369732261
|
0.00013
|
|
NM_002661.5(PLCG2):c.1383A>G (p.Arg461=)
|
rs369098550
|
0.00013
|
|
NM_002661.5(PLCG2):c.1569T>A (p.Pro523=)
|
rs199708049
|
0.00013
|
|
NM_002661.5(PLCG2):c.2913C>T (p.Pro971=)
|
rs377752384
|
0.00013
|
|
NM_002834.5(PTPN11):c.1746C>T (p.Asn582=)
|
rs397516800
|
0.00013
|
|
NM_003052.5(SLC34A1):c.741C>A (p.Ile247=)
|
rs374121143
|
0.00013
|
|
NM_003200.5(TCF3):c.1948C>A (p.Pro650Thr)
|
rs7252811
|
0.00013
|
|
NM_003242.6(TGFBR2):c.94+16238C>T
|
rs149757320
|
0.00013
|
|
NM_003482.4(KMT2D):c.15558C>T (p.His5186=)
|
rs2024
|
0.00013
|
|
NM_003982.4(SLC7A7):c.249C>T (p.Ser83=)
|
rs146077876
|
0.00013
|
|
NM_004082.5(DCTN1):c.3345+13C>T
|
rs376707439
|
0.00013
|
|
NM_004387.4(NKX2-5):c.823C>A (p.Pro275Thr)
|
rs368366482
|
0.00013
|
|
NM_004560.4(ROR2):c.1524G>A (p.Thr508=)
|
rs114395148
|
0.00013
|
|
NM_004924.6(ACTN4):c.1902C>T (p.Asp634=)
|
rs139162351
|
0.00013
|
|
NM_006514.4(SCN10A):c.2737G>A (p.Ala913Thr)
|
rs201054824
|
0.00013
|
|
NM_012431.3(SEMA3E):c.1668-16A>G
|
rs371322188
|
0.00013
|
|
NM_013339.4(ALG6):c.903-13A>G
|
rs190744579
|
0.00013
|
|
NM_014049.5(ACAD9):c.1233G>A (p.Pro411=)
|
rs754767509
|
0.00013
|
|
NM_014714.4(IFT140):c.2886G>A (p.Ala962=)
|
rs201150342
|
0.00013
|
|
NM_015158.5(KANK1):c.1533T>C (p.Val511=)
|
rs199881654
|
0.00013
|
|
NM_015910.7(WDPCP):c.1435+19T>C
|
rs367947125
|
0.00013
|
|
NM_016360.4(TACO1):c.873C>T (p.His291=)
|
rs370007551
|
0.00013
|
|
NM_017649.5(CNNM2):c.804G>T (p.Leu268=)
|
rs148386496
|
0.00013
|
|
NM_017780.4(CHD7):c.5607+11G>A
|
rs369304706
|
0.00013
|
|
NM_017780.4(CHD7):c.7119C>T (p.Ser2373=)
|
rs201046385
|
0.00013
|
|
NM_019109.5(ALG1):c.1281T>C (p.Phe427=)
|
rs538385814
|
0.00013
|
|
NM_020975.6(RET):c.868-6C>T
|
rs367688294
|
0.00013
|
|
NM_021098.3(CACNA1H):c.3363+12C>G
|
rs749123905
|
0.00013
|
|
NM_021098.3(CACNA1H):c.5832C>T (p.His1944=)
|
rs372529098
|
0.00013
|
|
NM_022042.4(SLC26A1):c.1152C>T (p.Asn384=)
|
rs140876735
|
0.00013
|
|
NM_022489.4(INF2):c.1755G>A (p.Ala585=)
|
rs375573206
|
0.00013
|
|
NM_024009.3(GJB3):c.250G>A (p.Val84Ile)
|
rs145751680
|
0.00013
|
|
NM_024301.5(FKRP):c.828A>G (p.Leu276=)
|
rs745994685
|
0.00013
|
|
NM_024514.5(CYP2R1):c.873A>G (p.Pro291=)
|
rs184549196
|
0.00013
|
|
NM_024685.4(BBS10):c.102G>T (p.Arg34=)
|
rs376601112
|
0.00013
|
|
NM_024740.2(ALG9):c.1314A>G (p.Ala438=)
|
rs201611208
|
0.00013
|
|
NM_024753.5(TTC21B):c.441G>A (p.Leu147=)
|
rs147696806
|
0.00013
|
|
NM_032043.3(BRIP1):c.3099T>C (p.Pro1033=)
|
rs202228407
|
0.00013
|
|
NM_032119.4(ADGRV1):c.8064C>T (p.Ser2688=)
|
rs75195840
|
0.00013
|
|
NM_153240.5(NPHP3):c.2395T>C (p.Leu799=)
|
rs201015677
|
0.00013
|
|
NM_153704.6(TMEM67):c.192T>C (p.Pro64=)
|
rs150383995
|
0.00013
|
|
NM_201596.3(CACNB2):c.102G>T (p.Ala34=)
|
rs370839320
|
0.00013
|
|
NM_000030.3(AGXT):c.596-7T>C
|
rs368799073
|
0.00012
|
|
NM_000052.7(ATP7A):c.2530C>T (p.Arg844Cys)
|
rs374162669
|
0.00012
|
|
NM_000091.5(COL4A3):c.4407T>C (p.Ser1469=)
|
rs373720128
|
0.00012
|
|
NM_000092.5(COL4A4):c.4590G>A (p.Val1530=)
|
rs141793628
|
0.00012
|
|
NM_000093.5(COL5A1):c.5280C>T (p.Tyr1760=)
|
rs767284056
|
0.00012
|
|
NM_000135.4(FANCA):c.1776+11G>A
|
rs377308050
|
0.00012
|
|
NM_000141.5(FGFR2):c.748+18C>T
|
rs377269009
|
0.00012
|
|
NM_000195.5(HPS1):c.1409C>T (p.Ala470Val)
|
rs768146409
|
0.00012
|
|
NM_000278.5(PAX2):c.411-11C>T
|
rs541291517
|
0.00012
|
|
NM_000311.5(PRNP):c.306G>A (p.Pro102=)
|
rs370426100
|
0.00012
|
|
NM_000338.3(SLC12A1):c.2223G>A (p.Lys741=)
|
rs141643222
|
0.00012
|
|
NM_000363.5(TNNI3):c.132G>C (p.Ser44=)
|
rs727504941
|
0.00012
|
|
NM_000368.5(TSC1):c.1001C>T (p.Ser334Leu)
|
rs118203481
|
0.00012
|
|
NM_000368.5(TSC1):c.2647G>A (p.Ala883Thr)
|
rs118203721
|
0.00012
|
|
NM_000435.3(NOTCH3):c.135C>T (p.Asp45=)
|
rs370177269
|
0.00012
|
|
NM_000548.5(TSC2):c.4493+16C>G
|
rs45491597
|
0.00012
|
|
NM_001009944.3(PKD1):c.5770G>A (p.Gly1924Ser)
|
rs199947459
|
0.00012
|
|
NM_001034853.2(RPGR):c.1708A>G (p.Thr570Ala)
|
rs768169831
|
0.00012
|
|
NM_001042492.3(NF1):c.5322G>A (p.Gly1774=)
|
rs201584313
|
0.00012
|
|
NM_001046.3(SLC12A2):c.1773+15T>C
|
rs199958255
|
0.00012
|
|
NM_001079866.2(BCS1L):c.702C>T (p.Cys234=)
|
rs140405116
|
0.00012
|
|
NM_001080512.3(BICC1):c.2016-19C>T
|
rs376910741
|
0.00012
|
|
NM_001099922.3(ALG13):c.2685C>T (p.His895=)
|
rs374572450
|
0.00012
|
|
NM_001099922.3(ALG13):c.417T>C (p.Ile139=)
|
rs748326545
|
0.00012
|
|
NM_001101.5(ACTB):c.453C>T (p.Ile151=)
|
rs150837984
|
0.00012
|
|
NM_001144967.3(NEDD4L):c.2488-20del
|
rs752322832
|
0.00012
|
|
NM_001145809.2(MYH14):c.1301A>G (p.Tyr434Cys)
|
rs556541366
|
0.00012
|
|
NM_001177316.2(SLC34A3):c.204C>T (p.Arg68=)
|
rs140559114
|
0.00012
|
|
NM_001267550.2(TTN):c.107082G>A (p.Leu35694=)
|
rs727505278
|
0.00012
|
|
NM_001330078.2(NRXN1):c.3365-109899A>G
|
rs562219421
|
0.00012
|
|
NM_001365276.2(TNXB):c.6303A>G (p.Leu2101=)
|
rs761030884
|
0.00012
|
|
NM_001375978.1(CHRM3):c.681T>C (p.Ser227=)
|
rs199549014
|
0.00012
|
|
NM_001384732.1(CPLANE1):c.834+15G>A
|
rs373984590
|
0.00012
|
|
NM_001482.3(GATM):c.801A>C (p.Ala267=)
|
rs371507418
|
0.00012
|
|
NM_001845.6(COL4A1):c.1419C>T (p.Asp473=)
|
rs140440365
|
0.00012
|
|
NM_001845.6(COL4A1):c.606C>T (p.Thr202=)
|
rs754333091
|
0.00012
|
|
NM_001943.5(DSG2):c.81+17A>G
|
rs547399759
|
0.00012
|
|
NM_002067.5(GNA11):c.501C>T (p.Ile167=)
|
rs756722832
|
0.00012
|
|
NM_002292.4(LAMB2):c.2720+11A>G
|
rs370034592
|
0.00012
|
|
NM_002334.4(LRP4):c.2436T>C (p.Asp812=)
|
rs201159730
|
0.00012
|
|
NM_002334.4(LRP4):c.447C>T (p.Ser149=)
|
rs763246909
|
0.00012
|
|
NM_002335.4(LRP5):c.2175T>C (p.Val725=)
|
rs200570645
|
0.00012
|
|
NM_002335.4(LRP5):c.3888C>T (p.Pro1296=)
|
rs752439831
|
0.00012
|
|
NM_002471.4(MYH6):c.3893C>T (p.Ala1298Val)
|
rs368588052
|
0.00012
|
|
NM_002473.6(MYH9):c.1212G>A (p.Ala404=)
|
rs148832136
|
0.00012
|
|
NM_002473.6(MYH9):c.504A>G (p.Gln168=)
|
rs760974197
|
0.00012
|
|
NM_002473.6(MYH9):c.5593-4G>A
|
rs369769391
|
0.00012
|
|
NM_002661.5(PLCG2):c.1557+14C>G
|
rs372814853
|
0.00012
|
|
NM_003052.5(SLC34A1):c.1719A>G (p.Leu573=)
|
rs148575220
|
0.00012
|
|
NM_003183.6(ADAM17):c.2280C>T (p.Asp760=)
|
rs371018540
|
0.00012
|
|
NM_003640.5(ELP1):c.2205-7C>T
|
rs148221146
|
0.00012
|
|
NM_004360.5(CDH1):c.1409C>T (p.Thr470Ile)
|
rs370864592
|
0.00012
|
|
NM_004366.6(CLCN2):c.221-8G>A
|
rs769713180
|
0.00012
|
|
NM_004525.3(LRP2):c.4691+16A>T
|
rs201303681
|
0.00012
|
|
NM_004525.3(LRP2):c.9177C>T (p.Asp3059=)
|
rs763193608
|
0.00012
|
|
NM_004525.3(LRP2):c.975G>A (p.Pro325=)
|
rs368492082
|
0.00012
|
|
NM_004646.4(NPHS1):c.1012+17G>C
|
rs373353156
|
0.00012
|
|
NM_004646.4(NPHS1):c.558C>T (p.Asn186=)
|
rs370625224
|
0.00012
|
|
NM_004836.7(EIF2AK3):c.2286G>T (p.Gln762His)
|
rs777171158
|
0.00012
|
|
NM_004975.4(KCNB1):c.2364G>A (p.Thr788=)
|
rs112132596
|
0.00012
|
|
NM_005257.6(GATA6):c.735G>A (p.Gly245=)
|
rs1031755167
|
0.00012
|
|
NM_007214.5(SEC63):c.2025T>A (p.Asp675Glu)
|
rs141211769
|
0.00012
|
|
NM_007294.4(BRCA1):c.2315T>C (p.Val772Ala)
|
rs80357467
|
0.00012
|
|
NM_013275.6(ANKRD11):c.1577A>T (p.His526Leu)
|
rs374369335
|
0.00012
|
|
NM_015272.5(RPGRIP1L):c.1719C>T (p.Ala573=)
|
rs375774377
|
0.00012
|
|
NM_015662.3(IFT172):c.184-10A>T
|
rs546122503
|
0.00012
|
|
NM_015662.3(IFT172):c.2442+16T>A
|
rs189737111
|
0.00012
|
|
NM_015662.3(IFT172):c.39+13G>A
|
rs747789616
|
0.00012
|
|
NM_015910.7(WDPCP):c.385-12A>G
|
rs528402153
|
0.00012
|
|
NM_017617.5(NOTCH1):c.2805C>T (p.Pro935=)
|
rs200332386
|
0.00012
|
|
NM_017780.4(CHD7):c.1203A>G (p.Ala401=)
|
rs147960212
|
0.00012
|
|
NM_017780.4(CHD7):c.1245G>A (p.Pro415=)
|
rs745900311
|
0.00012
|
|
NM_017947.4(MOCOS):c.354C>T (p.Ala118=)
|
rs777970237
|
0.00012
|
|
NM_018979.4(WNK1):c.2664A>G (p.Val888=)
|
rs769020140
|
0.00012
|
|
NM_020297.4(ABCC9):c.2339+13A>G
|
rs189255166
|
0.00012
|
|
NM_020381.4(PDSS2):c.702+16G>A
|
rs200017192
|
0.00012
|
|
NM_021098.3(CACNA1H):c.1269G>A (p.Ser423=)
|
rs368956894
|
0.00012
|
|
NM_021098.3(CACNA1H):c.1623C>T (p.Pro541=)
|
rs773501953
|
0.00012
|
|
NM_021098.3(CACNA1H):c.3462C>T (p.Leu1154=)
|
rs940068732
|
0.00012
|
|
NM_022455.5(NSD1):c.7933C>T (p.Leu2645=)
|
rs61730553
|
0.00012
|
|
NM_022489.4(INF2):c.744C>T (p.Phe248=)
|
rs372799744
|
0.00012
|
|
NM_024529.5(CDC73):c.840G>A (p.Leu280=)
|
rs10921320
|
0.00012
|
|
NM_024685.4(BBS10):c.27G>T (p.Gly9=)
|
rs370213920
|
0.00012
|
|
NM_025074.7(FRAS1):c.10008G>A (p.Pro3336=)
|
rs76120498
|
0.00012
|
|
NM_025074.7(FRAS1):c.1255+10T>C
|
rs540508144
|
0.00012
|
|
NM_033380.3(COL4A5):c.2571A>G (p.Gly857=)
|
rs41311553
|
0.00012
|
|
NM_033380.3(COL4A5):c.4315+9A>T
|
rs764116323
|
0.00012
|
|
NM_033380.3(COL4A5):c.488T>C (p.Met163Thr)
|
rs142503631
|
0.00012
|
|
NM_144773.4(PROKR2):c.156C>T (p.Ala52=)
|
rs775513724
|
0.00012
|
|
NM_153240.5(NPHP3):c.2883+16C>T
|
rs376492280
|
0.00012
|
|
NM_153704.6(TMEM67):c.312+13T>C
|
rs748077984
|
0.00012
|
|
NM_153704.6(TMEM67):c.312+14A>G
|
rs202135944
|
0.00012
|
|
NM_170707.4(LMNA):c.811-12C>T
|
rs372962650
|
0.00012
|
|
NM_178170.3(NEK8):c.1632G>C (p.Val544=)
|
rs766110309
|
0.00012
|
|
NM_198252.3(GSN):c.1782G>A (p.Leu594=)
|
rs139239940
|
0.00012
|
|
NM_198252.3(GSN):c.431G>A (p.Arg144Gln)
|
rs144099356
|
0.00012
|
|
NM_198334.3(GANAB):c.920C>G (p.Pro307Arg)
|
rs201801499
|
0.00012
|
|
NM_207361.6(FREM2):c.7216-4G>A
|
rs373594819
|
0.00012
|
|
NM_212482.4(FN1):c.6158-7C>T
|
rs372760499
|
0.00012
|
|
NM_000054.7(AVPR2):c.474G>A (p.Arg158=)
|
rs368544649
|
0.00011
|
|
NM_000064.4(C3):c.1480-10G>A
|
rs200390075
|
0.00011
|
|
NM_000064.4(C3):c.2047+7G>A
|
rs770932217
|
0.00011
|
|
NM_000064.4(C3):c.2991G>A (p.Ala997=)
|
rs150763358
|
0.00011
|
|
NM_000064.4(C3):c.420C>A (p.Thr140=)
|
rs182399298
|
0.00011
|
|
NM_000067.3(CA2):c.534C>T (p.Phe178=)
|
rs17850824
|
0.00011
|
|
NM_000069.3(CACNA1S):c.5227-20C>T
|
rs377205612
|
0.00011
|
|
NM_000069.3(CACNA1S):c.900+17G>A
|
rs373839474
|
0.00011
|
|
NM_000091.5(COL4A3):c.4449C>T (p.His1483=)
|
rs140672401
|
0.00011
|
|
NM_000092.5(COL4A4):c.2546-6T>C
|
rs199710625
|
0.00011
|
|
NM_000092.5(COL4A4):c.3531C>T (p.Asn1177=)
|
rs201699649
|
0.00011
|
|
NM_000135.4(FANCA):c.1471-20G>A
|
rs374579239
|
0.00011
|
|
NM_000135.4(FANCA):c.1683G>A (p.Thr561=)
|
rs143451067
|
0.00011
|
|
NM_000136.3(FANCC):c.1534-9T>C
|
rs536836859
|
0.00011
|
|
NM_000136.3(FANCC):c.250+16G>A
|
rs371993188
|
0.00011
|
|
NM_000138.5(FBN1):c.1323A>G (p.Pro441=)
|
rs202030761
|
0.00011
|
|
NM_000168.6(GLI3):c.367+20G>A
|
rs371365628
|
0.00011
|
|
NM_000168.6(GLI3):c.411T>C (p.Ile137=)
|
rs200203051
|
0.00011
|
|
NM_000198.4(HSD3B2):c.681C>T (p.Asn227=)
|
rs587675471
|
0.00011
|
|
NM_000210.4(ITGA6):c.258C>T (p.Cys86=)
|
rs200919733
|
0.00011
|
|
NM_000214.3(JAG1):c.1885+12T>C
|
rs377670685
|
0.00011
|
|
NM_000257.4(MYH7):c.5656-4G>A
|
rs397516250
|
0.00011
|
|
NM_000297.4(PKD2):c.1092C>T (p.Thr364=)
|
rs149257723
|
0.00011
|
|
NM_000297.4(PKD2):c.2523-7C>T
|
rs199528409
|
0.00011
|
|
NM_000312.4(PROC):c.927C>T (p.Ala309=)
|
rs200731614
|
0.00011
|
|
NM_000314.8(PTEN):c.235G>A (p.Ala79Thr)
|
rs202004587
|
0.00011
|
|
NM_000338.3(SLC12A1):c.1653T>G (p.Thr551=)
|
rs142886182
|
0.00011
|
|
NM_000379.4(XDH):c.3789G>A (p.Pro1263=)
|
rs202077714
|
0.00011
|
|
NM_000384.3(APOB):c.36G>T (p.Leu12=)
|
rs1431567486
|
0.00011
|
|
NM_000548.5(TSC2):c.3557A>G (p.Tyr1186Cys)
|
rs137854421
|
0.00011
|
|
NM_000548.5(TSC2):c.3832C>T (p.Leu1278=)
|
rs374146919
|
0.00011
|
|
NM_000548.5(TSC2):c.5364T>C (p.Tyr1788=)
|
rs367703283
|
0.00011
|
|
NM_000782.5(CYP24A1):c.753G>A (p.Arg251=)
|
rs377533549
|
0.00011
|
|
NM_000789.4(ACE):c.3381-4C>T
|
rs201962955
|
0.00011
|
|
NM_000789.4(ACE):c.477C>T (p.Pro159=)
|
rs201285321
|
0.00011
|
|
NM_001003841.3(SLC6A19):c.849C>T (p.Phe283=)
|
rs201416473
|
0.00011
|
|
NM_001009944.3(PKD1):c.1557C>T (p.Thr519=)
|
rs561467860
|
0.00011
|
|
NM_001009944.3(PKD1):c.5661C>T (p.Ile1887=)
|
rs372696163
|
0.00011
|
|
NM_001009944.3(PKD1):c.8712C>T (p.Ser2904=)
|
rs757969966
|
0.00011
|
|
NM_001018115.3(FANCD2):c.4281+81G>A
|
rs145889419
|
0.00011
|
|
NM_001023570.4(IQCB1):c.1281G>A (p.Ala427=)
|
rs201319850
|
0.00011
|
|
NM_001038.6(SCNN1A):c.1074A>G (p.Glu358=)
|
rs149430403
|
0.00011
|
|
NM_001042492.3(NF1):c.1005T>C (p.Asn335=)
|
rs777369021
|
0.00011
|
|
NM_001081.4(CUBN):c.5148C>T (p.Phe1716=)
|
rs370581324
|
0.00011
|
|
NM_001099922.3(ALG13):c.2787A>G (p.Pro929=)
|
rs772431643
|
0.00011
|
|
NM_001134363.3(RBM20):c.1275+8G>T
|
rs727505318
|
0.00011
|
|
NM_001134831.2(AHI1):c.135+19G>A
|
rs374973889
|
0.00011
|
|
NM_001134831.2(AHI1):c.82C>T (p.Arg28Cys)
|
rs199612496
|
0.00011
|
|
NM_001136193.2(FASTKD2):c.1080T>C (p.Leu360=)
|
rs376045225
|
0.00011
|
|
NM_001144967.3(NEDD4L):c.252A>G (p.Pro84=)
|
rs368888932
|
0.00011
|
|
NM_001171.6(ABCC6):c.3795C>T (p.Ile1265=)
|
rs114175094
|
0.00011
|
|
NM_001174147.2(LMX1B):c.549G>A (p.Glu183=)
|
rs775705878
|
0.00011
|
|
NM_001197104.2(KMT2A):c.9947C>T (p.Ala3316Val)
|
rs201447376
|
0.00011
|
|
NM_001267550.2(TTN):c.100766-11T>C
|
rs761345673
|
0.00011
|
|
NM_001267550.2(TTN):c.25063+18C>T
|
rs541890371
|
0.00011
|
|
NM_001267550.2(TTN):c.73770T>C (p.Tyr24590=)
|
rs201380749
|
0.00011
|
|
NM_001267550.2(TTN):c.78063C>T (p.Pro26021=)
|
rs72648204
|
0.00011
|
|
NM_001286445.3(RIPOR2):c.502-10A>C
|
rs199905499
|
0.00011
|
|
NM_001289104.2(PRKCSH):c.60C>T (p.Pro20=)
|
rs138449875
|
0.00011
|
|
NM_001291303.3(FAT4):c.14935G>A (p.Ala4979Thr)
|
rs17009858
|
0.00011
|
|
NM_001365276.2(TNXB):c.12210+5G>A
|
rs4959085
|
0.00011
|
|
NM_001369.3(DNAH5):c.360T>C (p.Asp120=)
|
rs368412855
|
0.00011
|
|
NM_001372.4(DNAH9):c.10422A>G (p.Lys3474=)
|
rs372078743
|
0.00011
|
|
NM_001372.4(DNAH9):c.10853C>T (p.Thr3618Met)
|
rs201246193
|
0.00011
|
|
NM_001378454.1(ALMS1):c.5347C>T (p.Leu1783=)
|
rs562434013
|
0.00011
|
|
NM_001395656.1(ROBO2):c.1296G>T (p.Thr432=)
|
rs191732065
|
0.00011
|
|
NM_001414.4(EIF2B1):c.176T>C (p.Val59Ala)
|
rs199544322
|
0.00011
|
|
NM_001680.5(FXYD2):c.183C>T (p.Ile61=)
|
rs201669990
|
0.00011
|
|
NM_001715.3(BLK):c.772+16C>T
|
rs200129390
|
0.00011
|
|
NM_001735.3(C5):c.423A>G (p.Val141=)
|
rs545714459
|
0.00011
|
|
NM_001807.6(CEL):c.358G>A (p.Val120Ile)
|
rs201336247
|
0.00011
|
|
NM_001845.6(COL4A1):c.1881A>G (p.Gly627=)
|
rs202093478
|
0.00011
|
|
NM_002067.5(GNA11):c.476+13G>A
|
rs371755659
|
0.00011
|
|
NM_002204.4(ITGA3):c.645C>T (p.Pro215=)
|
rs150288242
|
0.00011
|
|
NM_002292.4(LAMB2):c.4425C>T (p.Ser1475=)
|
rs140142444
|
0.00011
|
|
NM_002335.4(LRP5):c.3600C>T (p.Gly1200=)
|
rs202207765
|
0.00011
|
|
NM_002335.4(LRP5):c.3837C>T (p.Arg1279=)
|
rs372930578
|
0.00011
|
|
NM_002335.4(LRP5):c.4111+19C>T
|
rs377000624
|
0.00011
|
|
NM_002335.4(LRP5):c.4137C>T (p.Asp1379=)
|
rs139755343
|
0.00011
|
|
NM_002335.4(LRP5):c.714G>A (p.Thr238=)
|
rs149522146
|
0.00011
|
|
NM_002471.4(MYH6):c.2097C>T (p.Gly699=)
|
rs149734381
|
0.00011
|
|
NM_002471.4(MYH6):c.2805C>T (p.Asn935=)
|
rs757958461
|
0.00011
|
|
NM_002471.4(MYH6):c.2973C>T (p.Ile991=)
|
rs374807345
|
0.00011
|
|
NM_002661.5(PLCG2):c.3396G>A (p.Leu1132=)
|
rs201475640
|
0.00011
|
|
NM_002691.4(POLD1):c.1785C>T (p.Asp595=)
|
rs769563176
|
0.00011
|
|
NM_002734.5(PRKAR1A):c.381T>C (p.Ala127=)
|
rs372669687
|
0.00011
|
|
NM_002834.5(PTPN11):c.1224+15G>A
|
rs373271861
|
0.00011
|
|
NM_002834.5(PTPN11):c.558G>T (p.Arg186=)
|
rs200920312
|
0.00011
|
|
NM_002906.4(RDX):c.471A>G (p.Val157=)
|
rs376917034
|
0.00011
|
|
NM_003361.4(UMOD):c.1383G>A (p.Ala461=)
|
rs147222401
|
0.00011
|
|
NM_003401.5(XRCC4):c.140-4A>G
|
rs143971157
|
0.00011
|
|
NM_003560.4(PLA2G6):c.447C>T (p.Asn149=)
|
rs368631309
|
0.00011
|
|
NM_003590.5(CUL3):c.543C>T (p.Gly181=)
|
rs17480168
|
0.00011
|
|
NM_003611.3(OFD1):c.795G>A (p.Lys265=)
|
rs745443262
|
0.00011
|
|
NM_003722.5(TP63):c.1575C>T (p.Leu525=)
|
rs147389337
|
0.00011
|
|
NM_004187.5(KDM5C):c.2112G>A (p.Glu704=)
|
rs782570746
|
0.00011
|
|
NM_004360.5(CDH1):c.2512A>G (p.Ser838Gly)
|
rs121964872
|
0.00011
|
|
NM_004366.6(CLCN2):c.726C>T (p.Ala242=)
|
rs768569603
|
0.00011
|
|
NM_004415.4(DSP):c.6799A>T (p.Thr2267Ser)
|
rs181378432
|
0.00011
|
|
NM_004482.4(GALNT3):c.1194A>G (p.Val398=)
|
rs150937941
|
0.00011
|
|
NM_004525.3(LRP2):c.12988+18T>C
|
rs201970419
|
0.00011
|
|
NM_004525.3(LRP2):c.1342-13G>A
|
rs372705473
|
0.00011
|
|
NM_004525.3(LRP2):c.8277C>T (p.Arg2759=)
|
rs546544412
|
0.00011
|
|
NM_004560.4(ROR2):c.2586C>T (p.His862=)
|
rs56158629
|
0.00011
|
|
NM_004795.4(KL):c.2502C>T (p.Thr834=)
|
rs147748913
|
0.00011
|
|
NM_004795.4(KL):c.2682C>T (p.Tyr894=)
|
rs144132270
|
0.00011
|
|
NM_004924.6(ACTN4):c.2520C>T (p.Thr840=)
|
rs372396071
|
0.00011
|
|
NM_004998.4(MYO1E):c.3081-6C>T
|
rs201630409
|
0.00011
|
|
NM_005343.4(HRAS):c.330C>T (p.Pro110=)
|
rs200747280
|
0.00011
|
|
NM_005633.4(SOS1):c.3357C>T (p.Thr1119=)
|
rs373319212
|
0.00011
|
|
NM_005751.5(AKAP9):c.610G>A (p.Asp204Asn)
|
rs148920964
|
0.00011
|
|
NM_006005.3(WFS1):c.1752G>A (p.Gln584=)
|
rs76577786
|
0.00011
|
|
NM_006073.4(TRDN):c.23-19T>G
|
rs370102595
|
0.00011
|
|
NM_006180.6(NTRK2):c.1962G>A (p.Leu654=)
|
rs147669506
|
0.00011
|
|
NM_006514.4(SCN10A):c.1277G>A (p.Arg426Gln)
|
rs143033805
|
0.00011
|
|
NM_006662.3(SRCAP):c.8760A>G (p.Gly2920=)
|
rs199928454
|
0.00011
|
|
NM_012120.3(CD2AP):c.1641G>A (p.Val547=)
|
rs375173164
|
0.00011
|
|
NM_012179.4(FBXO7):c.1495G>A (p.Gly499Ser)
|
rs369612645
|
0.00011
|
|
NM_012330.4(KAT6B):c.5679G>A (p.Pro1893=)
|
rs370977553
|
0.00011
|
|
NM_014009.4(FOXP3):c.1278C>A (p.Asn426Lys)
|
rs369332983
|
0.00011
|
|
NM_014053.4(FLVCR1):c.1525+12C>T
|
rs372644357
|
0.00011
|
|
NM_014140.4(SMARCAL1):c.1776G>A (p.Thr592=)
|
rs372995559
|
0.00011
|
|
NM_014270.5(SLC7A9):c.45G>A (p.Ser15=)
|
rs146359100
|
0.00011
|
|
NM_014425.5(INVS):c.2685C>T (p.Pro895=)
|
rs371932940
|
0.00011
|
|
NM_014795.4(ZEB2):c.1840C>T (p.Leu614=)
|
rs145201706
|
0.00011
|
|
NM_015102.5(NPHP4):c.280-4G>A
|
rs190495420
|
0.00011
|
|
NM_015102.5(NPHP4):c.3044+11A>C
|
rs778862383
|
0.00011
|
|
NM_015141.4(GPD1L):c.959+11C>T
|
rs370985609
|
0.00011
|
|
NM_015506.3(MMACHC):c.783G>A (p.Gly261=)
|
rs776623221
|
0.00011
|
|
NM_017415.3(KLHL3):c.606C>T (p.Ser202=)
|
rs151050480
|
0.00011
|
|
NM_017565.4(FAM20A):c.404+18G>A
|
rs773191671
|
0.00011
|
|
NM_017565.4(FAM20A):c.984T>C (p.Ala328=)
|
rs374633547
|
0.00011
|
|
NM_017570.5(OPLAH):c.3655C>T (p.Leu1219=)
|
rs373169020
|
0.00011
|
|
NM_017780.4(CHD7):c.2109T>G (p.Pro703=)
|
rs192950146
|
0.00011
|
|
NM_017780.4(CHD7):c.4653G>A (p.Leu1551=)
|
rs368093874
|
0.00011
|
|
NM_017909.4(RMND1):c.690-20C>G
|
rs770275231
|
0.00011
|
|
NM_018417.6(ADCY10):c.1260C>T (p.Tyr420=)
|
rs190879038
|
0.00011
|
|
NM_018979.4(WNK1):c.490C>T (p.Arg164Cys)
|
rs201939737
|
0.00011
|
|
NM_019109.5(ALG1):c.384T>C (p.Phe128=)
|
rs140626461
|
0.00011
|
|
NM_019594.4(LRRC8A):c.33G>A (p.Ala11=)
|
rs202218761
|
0.00011
|
|
NM_021098.3(CACNA1H):c.1029C>T (p.Tyr343=)
|
rs375894182
|
0.00011
|
|
NM_021098.3(CACNA1H):c.1167C>T (p.Asp389=)
|
rs41292281
|
0.00011
|
|
NM_021098.3(CACNA1H):c.1794C>T (p.Ala598=)
|
rs369322856
|
0.00011
|
|
NM_021098.3(CACNA1H):c.1944G>A (p.Pro648=)
|
rs766161313
|
0.00011
|
|
NM_021098.3(CACNA1H):c.2199C>T (p.Asp733=)
|
rs536342720
|
0.00011
|
|
NM_021098.3(CACNA1H):c.3744+8C>T
|
rs373354560
|
0.00011
|
|
NM_021098.3(CACNA1H):c.706C>T (p.Leu236=)
|
rs748968251
|
0.00011
|
|
NM_022042.4(SLC26A1):c.1869C>T (p.Asp623=)
|
rs144567476
|
0.00011
|
|
NM_022489.4(INF2):c.1770C>T (p.Pro590=)
|
rs549506051
|
0.00011
|
|
NM_022489.4(INF2):c.2053-16G>A
|
rs371712402
|
0.00011
|
|
NM_022489.4(INF2):c.2367G>A (p.Thr789=)
|
rs368194536
|
0.00011
|
|
NM_022489.4(INF2):c.2766C>T (p.Arg922=)
|
rs201044782
|
0.00011
|
|
NM_022489.4(INF2):c.844-6G>A
|
rs370399987
|
0.00011
|
|
NM_024675.4(PALB2):c.1455T>G (p.Thr485=)
|
rs566105533
|
0.00011
|
|
NM_024753.5(TTC21B):c.2937A>G (p.Leu979=)
|
rs138361451
|
0.00011
|
|
NM_025074.7(FRAS1):c.2070C>T (p.Ile690=)
|
rs531800217
|
0.00011
|
|
NM_025074.7(FRAS1):c.783C>T (p.Cys261=)
|
rs374802344
|
0.00011
|
|
NM_025114.4(CEP290):c.6960+9C>T
|
rs373226012
|
0.00011
|
|
NM_025114.4(CEP290):c.93C>T (p.Ser31=)
|
rs375955381
|
0.00011
|
|
NM_025132.4(WDR19):c.1797T>G (p.Ala599=)
|
rs373430338
|
0.00011
|
|
NM_030943.4(AMN):c.93C>T (p.Asp31=)
|
rs772599857
|
0.00011
|
|
NM_032444.4(SLX4):c.2241C>T (p.Ala747=)
|
rs143790956
|
0.00011
|
|
NM_032578.4(MYPN):c.2742T>C (p.Asn914=)
|
rs372375235
|
0.00011
|
|
NM_033360.4(KRAS):c.90C>T (p.Asp30=)
|
rs113623140
|
0.00011
|
|
NM_052874.5(STX1B):c.786+6C>T
|
rs750134526
|
0.00011
|
|
NM_052989.3(IFT122):c.2987+15A>G
|
rs373111458
|
0.00011
|
|
NM_052989.3(IFT122):c.416+12T>C
|
rs141969308
|
0.00011
|
|
NM_057176.3(BSND):c.831G>A (p.Glu277=)
|
rs143916830
|
0.00011
|
|
NM_145038.5(DRC1):c.1124G>A (p.Arg375His)
|
rs141347582
|
0.00011
|
|
NM_178857.6(RP1L1):c.4482A>G (p.Gln1494=)
|
rs201357374
|
0.00011
|
|
NM_198252.3(GSN):c.2046G>A (p.Thr682=)
|
rs747385746
|
0.00011
|
|
NM_198252.3(GSN):c.2082C>T (p.Thr694=)
|
rs368986042
|
0.00011
|
|
NM_198253.3(TERT):c.2079C>T (p.Phe693=)
|
rs371759577
|
0.00011
|
|
NM_198428.3(BBS9):c.2022G>T (p.Arg674=)
|
rs561957887
|
0.00011
|
|
NM_198578.4(LRRK2):c.2229T>G (p.Ser743=)
|
rs200425243
|
0.00011
|
|
NM_212482.4(FN1):c.5977+7A>G
|
rs373840022
|
0.00011
|
|
NM_212482.4(FN1):c.6459G>A (p.Pro2153=)
|
rs372396685
|
0.00011
|
|
NM_000069.3(CACNA1S):c.2520C>T (p.Thr840=)
|
rs147076871
|
0.00010
|
|
NM_000069.3(CACNA1S):c.4718C>T (p.Thr1573Met)
|
rs183195890
|
0.00010
|
|
NM_000069.3(CACNA1S):c.984G>T (p.Leu328=)
|
rs367685667
|
0.00010
|
|
NM_000071.3(CBS):c.1632C>T (p.Ala544=)
|
rs566810122
|
0.00010
|
|
NM_000092.5(COL4A4):c.595-18G>A
|
rs372991861
|
0.00010
|
|
NM_000135.4(FANCA):c.1755C>G (p.Pro585=)
|
rs144704750
|
0.00010
|
|
NM_000141.5(FGFR2):c.454+15G>A
|
rs200275522
|
0.00010
|
|
NM_000195.5(HPS1):c.507+15C>T
|
rs374761960
|
0.00010
|
|
NM_000204.5(CFI):c.705T>C (p.Ile235=)
|
rs373891906
|
0.00010
|
|
NM_000214.3(JAG1):c.1570-20G>A
|
rs140937305
|
0.00010
|
|
NM_000214.3(JAG1):c.1608C>T (p.Asn536=)
|
rs200648453
|
0.00010
|
|
NM_000238.4(KCNH2):c.2769G>A (p.Pro923=)
|
rs557789224
|
0.00010
|
|
NM_000260.4(MYO7A):c.4353C>T (p.Ala1451=)
|
rs372336857
|
0.00010
|
|
NM_000264.5(PTCH1):c.1809C>T (p.Arg603=)
|
rs145690756
|
0.00010
|
|
NM_000291.4(PGK1):c.937-8C>T
|
rs367749559
|
0.00010
|
|
NM_000301.5(PLG):c.1468C>A (p.Arg490=)
|
rs367707054
|
0.00010
|
|
NM_000334.4(SCN4A):c.1607-20T>C
|
rs374159735
|
0.00010
|
|
NM_000337.6(SGCD):c.3+11C>T
|
rs374790317
|
0.00010
|
|
NM_000352.6(ABCC8):c.2304C>T (p.Pro768=)
|
rs199541853
|
0.00010
|
|
NM_000352.6(ABCC8):c.3513C>T (p.Ala1171=)
|
rs778961697
|
0.00010
|
|
NM_000368.5(TSC1):c.2423C>T (p.Ala808Val)
|
rs756514375
|
0.00010
|
|
NM_000377.3(WAS):c.559+3G>A
|
rs782645822
|
0.00010
|
|
NM_000379.4(XDH):c.327C>T (p.His109=)
|
rs370058590
|
0.00010
|
|
NM_000435.3(NOTCH3):c.4560G>T (p.Pro1520=)
|
rs370010007
|
0.00010
|
|
NM_000444.6(PHEX):c.82G>A (p.Gly28Ser)
|
rs760556268
|
0.00010
|
|
NM_000527.5(LDLR):c.68-18C>G
|
rs370599334
|
0.00010
|
|
NM_000548.5(TSC2):c.4620C>T (p.Tyr1540=)
|
rs45455897
|
0.00010
|
|
NM_000593.6(TAP1):c.437C>T (p.Ala146Val)
|
rs144830209
|
0.00010
|
|
NM_000719.7(CACNA1C):c.5022C>T (p.Thr1674=)
|
rs372300407
|
0.00010
|
|
NM_000987.5(RPL26):c.96C>T (p.Ser32=)
|
rs755369380
|
0.00010
|
|
NM_001003841.3(SLC6A19):c.195C>T (p.His65=)
|
rs143165913
|
0.00010
|
|
NM_001009944.3(PKD1):c.1704C>T (p.Ala568=)
|
rs990065629
|
0.00010
|
|
NM_001009944.3(PKD1):c.5022G>A (p.Pro1674=)
|
rs772143717
|
0.00010
|
|
NM_001009944.3(PKD1):c.9022G>A (p.Val3008Met)
|
rs117896488
|
0.00010
|
|
NM_001011.4(RPS7):c.102G>A (p.Ser34=)
|
rs754617897
|
0.00010
|
|
NM_001018113.3(FANCB):c.504C>G (p.Ser168=)
|
rs373738816
|
0.00010
|
|
NM_001023570.4(IQCB1):c.588-16T>A
|
rs766712921
|
0.00010
|
|
NM_001023570.4(IQCB1):c.767-12A>G
|
rs367899924
|
0.00010
|
|
NM_001038.6(SCNN1A):c.1554A>G (p.Arg518=)
|
rs570566104
|
0.00010
|
|
NM_001041.4(SI):c.4062+18T>C
|
rs367787760
|
0.00010
|
|
NM_001042413.2(GLIS3):c.1326C>T (p.Asp442=)
|
rs758928731
|
0.00010
|
|
NM_001042492.3(NF1):c.2541T>C (p.Leu847=)
|
rs147433258
|
0.00010
|
|
NM_001081.4(CUBN):c.516C>T (p.Asn172=)
|
rs576450214
|
0.00010
|
|
NM_001083962.2(TCF4):c.923-17G>T
|
rs550597992
|
0.00010
|
|
NM_001099922.3(ALG13):c.1922A>G (p.His641Arg)
|
rs766772102
|
0.00010
|
|
NM_001099922.3(ALG13):c.255C>T (p.Ser85=)
|
rs771286138
|
0.00010
|
|
NM_001099922.3(ALG13):c.3379C>T (p.Pro1127Ser)
|
rs372841179
|
0.00010
|
|
NM_001110792.2(MECP2):c.1196C>T (p.Pro399Leu)
|
rs63390262
|
0.00010
|
|
NM_001111.5(ADAR):c.222G>A (p.Arg74=)
|
rs150423721
|
0.00010
|
|
NM_001126108.2(SLC12A3):c.2961C>T (p.Ser987=)
|
rs760690845
|
0.00010
|
|
NM_001127222.2(CACNA1A):c.6061G>A (p.Glu2021Lys)
|
rs202002033
|
0.00010
|
|
NM_001130823.3(DNMT1):c.3711C>T (p.Cys1237=)
|
rs139909192
|
0.00010
|
|
NM_001134831.2(AHI1):c.1149T>C (p.Asp383=)
|
rs371944986
|
0.00010
|
|
NM_001136193.2(FASTKD2):c.2014-18T>C
|
rs749657627
|
0.00010
|
|
NM_001174147.2(LMX1B):c.570G>A (p.Glu190=)
|
rs536687637
|
0.00010
|
|
NM_001204.7(BMPR2):c.57G>A (p.Leu19=)
|
rs759723251
|
0.00010
|
|
NM_001242896.3(DEPDC5):c.3264+13G>A
|
rs377268492
|
0.00010
|
|
NM_001267550.2(TTN):c.40250C>T (p.Pro13417Leu)
|
rs537578226
|
0.00010
|
|
NM_001303.4(COX10):c.48C>T (p.Cys16=)
|
rs748889500
|
0.00010
|
|
NM_001349206.2(LPIN1):c.1923C>T (p.Arg641=)
|
rs142023699
|
0.00010
|
|
NM_001370595.2(COA8):c.123+12C>T
|
rs767933232
|
0.00010
|
|
NM_001378414.1(HDAC4):c.111G>A (p.Ala37=)
|
rs540431173
|
0.00010
|
|
NM_001384479.1(AGT):c.830-20G>A
|
rs371187328
|
0.00010
|
|
NM_001384732.1(CPLANE1):c.5195A>G (p.Asp1732Gly)
|
rs756274300
|
0.00010
|
|
NM_001395656.1(ROBO2):c.204G>A (p.Gly68=)
|
rs201531318
|
0.00010
|
|
NM_001735.3(C5):c.2272T>C (p.Leu758=)
|
rs143840189
|
0.00010
|
|
NM_001943.5(DSG2):c.523+20T>C
|
rs775127367
|
0.00010
|
|
NM_002334.4(LRP4):c.3267C>T (p.Asp1089=)
|
rs150616375
|
0.00010
|
|
NM_002334.4(LRP4):c.4110C>T (p.Asp1370=)
|
rs143496445
|
0.00010
|
|
NM_002335.4(LRP5):c.1016-19A>G
|
rs373782074
|
0.00010
|
|
NM_002335.4(LRP5):c.4349-17C>T
|
rs372086596
|
0.00010
|
|
NM_002471.4(MYH6):c.1662C>T (p.Tyr554=)
|
rs374114140
|
0.00010
|
|
NM_002471.4(MYH6):c.420C>T (p.Ala140=)
|
rs145023897
|
0.00010
|
|
NM_002473.6(MYH9):c.1012+20A>G
|
rs748163536
|
0.00010
|
|
NM_002473.6(MYH9):c.2115C>T (p.Arg705=)
|
rs372243275
|
0.00010
|
|
NM_002485.5(NBN):c.-2C>T
|
rs202104448
|
0.00010
|
|
NM_003052.5(SLC34A1):c.1485C>A (p.Arg495=)
|
rs768939354
|
0.00010
|
|
NM_003611.3(OFD1):c.2928+18A>G
|
rs756838502
|
0.00010
|
|
NM_003673.3(TCAP):c.-13A>G
|
rs368175926
|
0.00010
|
|
NM_003742.4(ABCB11):c.3132T>C (p.Ala1044=)
|
rs199974713
|
0.00010
|
|
NM_003982.4(SLC7A7):c.625+10A>G
|
rs200420079
|
0.00010
|
|
NM_004006.3(DMD):c.5048C>G (p.Thr1683Ser)
|
rs146420425
|
0.00010
|
|
NM_004380.3(CREBBP):c.5271C>T (p.Gly1757=)
|
rs190121951
|
0.00010
|
|
NM_004484.4(GPC3):c.1232G>T (p.Ser411Ile)
|
rs139206747
|
0.00010
|
|
NM_004484.4(GPC3):c.516C>T (p.Asp172=)
|
rs369607601
|
0.00010
|
|
NM_004525.3(LRP2):c.4045+20T>C
|
rs202173572
|
0.00010
|
|
NM_004560.4(ROR2):c.97+7T>C
|
rs377341845
|
0.00010
|
|
NM_004621.6(TRPC6):c.667A>G (p.Ile223Val)
|
rs150033580
|
0.00010
|
|
NM_004629.2(FANCG):c.729T>C (p.Pro243=)
|
rs199736443
|
0.00010
|
|
NM_005045.4(RELN):c.6553A>T (p.Met2185Leu)
|
rs114686696
|
0.00010
|
|
NM_005055.5(RAPSN):c.831C>T (p.Thr277=)
|
rs148078235
|
0.00010
|
|
NM_005120.3(MED12):c.3942T>C (p.Ser1314=)
|
rs3810670
|
0.00010
|
|
NM_005515.4(MNX1):c.528G>A (p.Ala176=)
|
rs752182988
|
0.00010
|
|
NM_006172.4(NPPA):c.375G>A (p.Leu125=)
|
rs765926210
|
0.00010
|
|
NM_006642.5(SDCCAG8):c.740+14G>A
|
rs373462087
|
0.00010
|
|
NM_012120.3(CD2AP):c.5-20G>A
|
rs3756935
|
0.00010
|
|
NM_012309.5(SHANK2):c.5025G>A (p.Thr1675=)
|
rs147288898
|
0.00010
|
|
NM_012330.4(KAT6B):c.3337T>C (p.Leu1113=)
|
rs751986009
|
0.00010
|
|
NM_012330.4(KAT6B):c.699A>G (p.Glu233=)
|
rs188787788
|
0.00010
|
|
NM_014140.4(SMARCAL1):c.1533C>T (p.Val511=)
|
rs142314193
|
0.00010
|
|
NM_014714.4(IFT140):c.1146G>A (p.Thr382=)
|
rs200975046
|
0.00010
|
|
NM_014714.4(IFT140):c.768G>A (p.Leu256=)
|
rs775181670
|
0.00010
|
|
NM_014956.5(CEP164):c.534G>A (p.Gln178=)
|
rs148498531
|
0.00010
|
|
NM_015102.5(NPHP4):c.280-18C>G
|
rs367703759
|
0.00010
|
|
NM_015158.5(KANK1):c.2064G>A (p.Thr688=)
|
rs143946731
|
0.00010
|
|
NM_015272.5(RPGRIP1L):c.2683+7C>T
|
rs768922800
|
0.00010
|
|
NM_015512.5(DNAH1):c.6930C>T (p.Ile2310=)
|
rs370197256
|
0.00010
|
|
NM_016204.4(GDF2):c.378C>A (p.Phe126Leu)
|
rs180821007
|
0.00010
|
|
NM_016341.4(PLCE1):c.1313T>C (p.Val438Ala)
|
rs199689540
|
0.00010
|
|
NM_017570.5(OPLAH):c.3843T>C (p.Tyr1281=)
|
rs201482072
|
0.00010
|
|
NM_017780.4(CHD7):c.303G>A (p.Pro101=)
|
rs373868449
|
0.00010
|
|
NM_017780.4(CHD7):c.6108G>A (p.Pro2036=)
|
rs372755547
|
0.00010
|
|
NM_017950.4(CCDC40):c.3114G>A (p.Ser1038=)
|
rs372856318
|
0.00010
|
|
NM_018419.3(SOX18):c.1149C>T (p.Ser383=)
|
rs377287358
|
0.00010
|
|
NM_019109.5(ALG1):c.540-12C>G
|
rs200506548
|
0.00010
|
|
NM_020041.3(SLC2A9):c.666C>T (p.Pro222=)
|
rs139449249
|
0.00010
|
|
NM_020381.4(PDSS2):c.81G>A (p.Pro27=)
|
rs754281828
|
0.00010
|
|
NM_021098.3(CACNA1H):c.1890C>T (p.Pro630=)
|
rs755382298
|
0.00010
|
|
NM_021098.3(CACNA1H):c.2907+9C>T
|
rs200631961
|
0.00010
|
|
NM_021098.3(CACNA1H):c.4287C>A (p.Pro1429=)
|
rs371310397
|
0.00010
|
|
NM_021098.3(CACNA1H):c.4836G>A (p.Ser1612=)
|
rs58033848
|
0.00010
|
|
NM_022089.4(ATP13A2):c.844A>T (p.Ser282Cys)
|
rs538497077
|
0.00010
|
|
NM_022489.4(INF2):c.1458C>T (p.Phe486=)
|
rs1420347614
|
0.00010
|
|
NM_022489.4(INF2):c.3040+11C>T
|
rs374390500
|
0.00010
|
|
NM_022489.4(INF2):c.474C>T (p.His158=)
|
rs141172921
|
0.00010
|
|
NM_023110.3(FGFR1):c.2331C>G (p.Ser777=)
|
rs763571736
|
0.00010
|
|
NM_024426.6(WT1):c.1264+19C>T
|
rs2234592
|
0.00010
|
|
NM_024426.6(WT1):c.849C>T (p.Thr283=)
|
rs145425799
|
0.00010
|
|
NM_024598.4(USB1):c.387G>C (p.Leu129=)
|
rs542658449
|
0.00010
|
|
NM_024649.5(BBS1):c.479+20T>C
|
rs756451521
|
0.00010
|
|
NM_024740.2(ALG9):c.789+11T>G
|
rs371939356
|
0.00010
|
|
NM_025074.7(FRAS1):c.4339C>T (p.Leu1447=)
|
rs779095746
|
0.00010
|
|
NM_025114.4(CEP290):c.4438-13T>C
|
rs528298900
|
0.00010
|
|
NM_030928.4(CDT1):c.999G>A (p.Pro333=)
|
rs202026460
|
0.00010
|
|
NM_032444.4(SLX4):c.1563T>C (p.Pro521=)
|
rs146360238
|
0.00010
|
|
NM_032444.4(SLX4):c.1602C>T (p.Ser534=)
|
rs201754095
|
0.00010
|
|
NM_032856.5(WDR73):c.33C>T (p.Ser11=)
|
rs376620550
|
0.00010
|
|
NM_080680.3(COL11A2):c.4587G>A (p.Pro1529=)
|
rs765931315
|
0.00010
|
|
NM_130849.4(SLC39A4):c.297C>T (p.Ala99=)
|
rs369212608
|
0.00010
|
|
NM_173551.5(ANKS6):c.1134T>C (p.Tyr378=)
|
rs200656157
|
0.00010
|
|
NM_176824.3(BBS7):c.1511+19C>A
|
rs201524145
|
0.00010
|
|
NM_212482.4(FN1):c.5051-9C>A
|
rs376036111
|
0.00010
|
|
NM_000022.4(ADA):c.192G>A (p.Lys64=)
|
rs144168646
|
0.00009
|
|
NM_000054.7(AVPR2):c.769G>A (p.Gly257Ser)
|
rs143480277
|
0.00009
|
|
NM_000059.4(BRCA2):c.4656T>C (p.Gly1552=)
|
rs41293491
|
0.00009
|
|
NM_000064.4(C3):c.216G>A (p.Glu72=)
|
rs375940408
|
0.00009
|
|
NM_000064.4(C3):c.987C>T (p.Thr329=)
|
rs748313429
|
0.00009
|
|
NM_000069.3(CACNA1S):c.1151-18T>C
|
rs112628416
|
0.00009
|
|
NM_000069.3(CACNA1S):c.3525+7del
|
rs759199210
|
0.00009
|
|
NM_000091.5(COL4A3):c.4755+18A>G
|
rs553695911
|
0.00009
|
|
NM_000102.4(CYP17A1):c.32C>T (p.Thr11Ile)
|
rs72559703
|
0.00009
|
|
NM_000135.4(FANCA):c.1776+13C>T
|
rs371272310
|
0.00009
|
|
NM_000135.4(FANCA):c.1900+7T>A
|
rs377401016
|
0.00009
|
|
NM_000135.4(FANCA):c.3810G>A (p.Ser1270=)
|
rs138144828
|
0.00009
|
|
NM_000136.3(FANCC):c.251-20T>C
|
rs370867462
|
0.00009
|
|
NM_000138.5(FBN1):c.7266A>G (p.Arg2422=)
|
rs532737688
|
0.00009
|
|
NM_000152.5(GAA):c.664G>A (p.Val222Met)
|
rs374569672
|
0.00009
|
|
NM_000153.4(GALC):c.909-4T>G
|
rs201884281
|
0.00009
|
|
NM_000162.5(GCK):c.9C>T (p.Asp3=)
|
rs142553382
|
0.00009
|
|
NM_000168.6(GLI3):c.288C>T (p.His96=)
|
rs200905584
|
0.00009
|
|
NM_000168.6(GLI3):c.4533C>T (p.Asp1511=)
|
rs145513625
|
0.00009
|
|
NM_000179.3(MSH6):c.3172+20T>C
|
rs3136335
|
0.00009
|
|
NM_000179.3(MSH6):c.660A>C (p.Glu220Asp)
|
rs1800938
|
0.00009
|
|
NM_000186.4(CFH):c.3045T>C (p.Thr1015=)
|
rs147864267
|
0.00009
|
|
NM_000186.4(CFH):c.3318A>G (p.Thr1106=)
|
rs1137971
|
0.00009
|
|
NM_000214.3(JAG1):c.3567G>A (p.Thr1189=)
|
rs373846021
|
0.00009
|
|
NM_000218.3(KCNQ1):c.1458C>T (p.Ala486=)
|
rs200275211
|
0.00009
|
|
NM_000255.4(MMUT):c.1676+10T>C
|
rs199886805
|
0.00009
|
|
NM_000282.4(PCCA):c.232-20A>G
|
rs376850891
|
0.00009
|
|
NM_000297.4(PKD2):c.2391A>C (p.Pro797=)
|
rs556777891
|
0.00009
|
|
NM_000301.5(PLG):c.2087G>A (p.Arg696Gln)
|
rs147930532
|
0.00009
|
|
NM_000334.4(SCN4A):c.1935C>T (p.Phe645=)
|
rs181494727
|
0.00009
|
|
NM_000334.4(SCN4A):c.2130C>T (p.Ile710=)
|
rs776552053
|
0.00009
|
|
NM_000334.4(SCN4A):c.2340C>T (p.Thr780=)
|
rs375349902
|
0.00009
|
|
NM_000334.4(SCN4A):c.2421C>T (p.Ala807=)
|
rs540328974
|
0.00009
|
|
NM_000349.3(STAR):c.759G>A (p.Lys253=)
|
rs146000965
|
0.00009
|
|
NM_000352.6(ABCC8):c.4425A>G (p.Thr1475=)
|
rs368134766
|
0.00009
|
|
NM_000368.5(TSC1):c.1333+5A>G
|
rs118203515
|
0.00009
|
|
NM_000379.4(XDH):c.2631+20G>A
|
rs370658508
|
0.00009
|
|
NM_000388.4(CASR):c.1788C>T (p.Thr596=)
|
rs142778221
|
0.00009
|
|
NM_000388.4(CASR):c.2844G>A (p.Leu948=)
|
rs140586950
|
0.00009
|
|
NM_000458.4(HNF1B):c.1534+11G>A
|
rs373875820
|
0.00009
|
|
NM_000475.5(NR0B1):c.469C>T (p.His157Tyr)
|
rs776059398
|
0.00009
|
|
NM_000478.6(ALPL):c.1455G>A (p.Ala485=)
|
rs188443578
|
0.00009
|
|
NM_000546.6(TP53):c.847C>T (p.Arg283Cys)
|
rs149633775
|
0.00009
|
|
NM_000548.5(TSC2):c.4006-19T>G
|
rs200900825
|
0.00009
|
|
NM_000548.5(TSC2):c.481+12C>T
|
rs777645015
|
0.00009
|
|
NM_000709.4(BCKDHA):c.1233C>T (p.Asp411=)
|
rs200363605
|
0.00009
|
|
NM_000719.7(CACNA1C):c.5444+719G>A
|
rs765829807
|
0.00009
|
|
NM_000782.5(CYP24A1):c.733-9T>C
|
rs895309596
|
0.00009
|
|
NM_000789.4(ACE):c.1020C>T (p.Pro340=)
|
rs3730026
|
0.00009
|
|
NM_000890.5(KCNJ5):c.312C>T (p.Phe104=)
|
rs201217363
|
0.00009
|
|
NM_000918.4(P4HB):c.430G>A (p.Ala144Thr)
|
rs138621837
|
0.00009
|
|
NM_001003800.2(BICD2):c.1401C>T (p.His467=)
|
rs144442734
|
0.00009
|
|
NM_001009944.3(PKD1):c.10872G>A (p.Pro3624=)
|
rs201417193
|
0.00009
|
|
NM_001009944.3(PKD1):c.5220C>T (p.Ala1740=)
|
rs146915755
|
0.00009
|
|
NM_001018115.3(FANCD2):c.3165C>T (p.Tyr1055=)
|
rs375929975
|
0.00009
|
|
NM_001023570.4(IQCB1):c.543A>G (p.Gly181=)
|
rs372658786
|
0.00009
|
|
NM_001039.4(SCNN1G):c.699C>T (p.His233=)
|
rs192839222
|
0.00009
|
|
NM_001039141.3(TRIOBP):c.5688-13G>C
|
rs200079756
|
0.00009
|
|
NM_001040108.2(MLH3):c.873T>G (p.Asn291Lys)
|
rs767413852
|
0.00009
|
|
NM_001041.4(SI):c.1686T>C (p.Tyr562=)
|
rs763063946
|
0.00009
|
|
NM_001041.4(SI):c.4000-18A>G
|
rs764830211
|
0.00009
|
|
NM_001081.4(CUBN):c.2961C>T (p.Asn987=)
|
rs148712017
|
0.00009
|
|
NM_001110556.2(FLNA):c.4908C>T (p.Ala1636=)
|
rs367979917
|
0.00009
|
|
NM_001113378.2(FANCI):c.165C>T (p.Pro55=)
|
rs139039885
|
0.00009
|
|
NM_001126108.2(SLC12A3):c.2285+7C>T
|
rs774342870
|
0.00009
|
|
NM_001128178.3(NPHP1):c.1524A>G (p.Val508=)
|
rs146220435
|
0.00009
|
|
NM_001135022.2(ELMOD3):c.269-13C>T
|
rs188058240
|
0.00009
|
|
NM_001171.6(ABCC6):c.3024G>A (p.Ala1008=)
|
rs372041663
|
0.00009
|
|
NM_001171.6(ABCC6):c.345+10C>T
|
rs768002646
|
0.00009
|
|
NM_001177316.2(SLC34A3):c.705G>A (p.Ala235=)
|
rs143867268
|
0.00009
|
|
NM_001190274.2(FBXO11):c.233-19T>C
|
rs778377197
|
0.00009
|
|
NM_001197104.2(KMT2A):c.6158+9C>T
|
rs200249108
|
0.00009
|
|
NM_001267550.2(TTN):c.107688G>A (p.Pro35896=)
|
rs542575761
|
0.00009
|
|
NM_001267550.2(TTN):c.29325C>T (p.Asn9775=)
|
rs377442695
|
0.00009
|
|
NM_001267550.2(TTN):c.36159G>A (p.Thr12053=)
|
rs773862719
|
0.00009
|
|
NM_001267550.2(TTN):c.88407G>A (p.Ala29469=)
|
rs531445644
|
0.00009
|
|
NM_001267550.2(TTN):c.90642A>T (p.Ala30214=)
|
rs552314114
|
0.00009
|
|
NM_001349206.2(LPIN1):c.1265-8C>T
|
rs111698882
|
0.00009
|
|
NM_001360.3(DHCR7):c.690G>C (p.Gly230=)
|
rs773393807
|
0.00009
|
|
NM_001365536.1(SCN9A):c.2165T>C (p.Leu722Ser)
|
rs187526567
|
0.00009
|
|
NM_001366110.1(PAX4):c.498C>T (p.His166=)
|
rs143156250
|
0.00009
|
|
NM_001371986.1(UNC80):c.9078G>A (p.Ser3026=)
|
rs564176510
|
0.00009
|
|
NM_001376.5(DYNC1H1):c.256+4C>T
|
rs546058194
|
0.00009
|
|
NM_001378454.1(ALMS1):c.8595A>G (p.Val2865=)
|
rs1052804740
|
0.00009
|
|
NM_001378615.1(CC2D2A):c.786C>T (p.Asp262=)
|
rs200434902
|
0.00009
|
|
NM_001379500.1(COL18A1):c.2869-11G>A
|
rs566226316
|
0.00009
|
|
NM_001385079.1(PDE10A):c.1155C>T (p.Ala385=)
|
rs778126794
|
0.00009
|
|
NM_001395656.1(ROBO2):c.3765T>C (p.Ser1255=)
|
rs201292837
|
0.00009
|
|
NM_001458.5(FLNC):c.1606G>A (p.Glu536Lys)
|
rs141616435
|
0.00009
|
|
NM_001680.5(FXYD2):c.114C>T (p.Phe38=)
|
rs151172706
|
0.00009
|
|
NM_001692.4(ATP6V1B1):c.348G>A (p.Pro116=)
|
rs145734697
|
0.00009
|
|
NM_001735.3(C5):c.3659-6G>A
|
rs201384752
|
0.00009
|
|
NM_001845.6(COL4A1):c.280-11C>T
|
rs377299204
|
0.00009
|
|
NM_001845.6(COL4A1):c.3742+14dup
|
rs761797795
|
0.00009
|
|
NM_001845.6(COL4A1):c.405C>T (p.Leu135=)
|
rs138888319
|
0.00009
|
|
NM_001957.4(EDNRA):c.354G>A (p.Leu118=)
|
rs201702493
|
0.00009
|
|
NM_002067.5(GNA11):c.240C>T (p.Tyr80=)
|
rs145033220
|
0.00009
|
|
NM_002204.4(ITGA3):c.840G>A (p.Ala280=)
|
rs199801873
|
0.00009
|
|
NM_002292.4(LAMB2):c.2505C>T (p.His835=)
|
rs752783113
|
0.00009
|
|
NM_002334.4(LRP4):c.1707C>T (p.Tyr569=)
|
rs61748895
|
0.00009
|
|
NM_002334.4(LRP4):c.2216-14C>T
|
rs369714698
|
0.00009
|
|
NM_002334.4(LRP4):c.426G>A (p.Gln142=)
|
rs371955690
|
0.00009
|
|
NM_002335.4(LRP5):c.1412+12G>A
|
rs189423416
|
0.00009
|
|
NM_002335.4(LRP5):c.3870C>T (p.Ser1290=)
|
rs749656764
|
0.00009
|
|
NM_002471.4(MYH6):c.3118C>T (p.Leu1040=)
|
rs368497504
|
0.00009
|
|
NM_002471.4(MYH6):c.4833C>T (p.Asn1611=)
|
rs139329956
|
0.00009
|
|
NM_002473.6(MYH9):c.4008C>T (p.Asp1336=)
|
rs373378393
|
0.00009
|
|
NM_002734.5(PRKAR1A):c.502+12_502+13del
|
rs764075585
|
0.00009
|
|
NM_002890.3(RASA1):c.1209A>G (p.Pro403=)
|
rs367991324
|
0.00009
|
|
NM_002968.3(SALL1):c.1227C>T (p.Ile409=)
|
rs368412604
|
0.00009
|
|
NM_003052.5(SLC34A1):c.510C>T (p.Ile170=)
|
rs552176812
|
0.00009
|
|
NM_003070.5(SMARCA2):c.680A>C (p.Gln227Pro)
|
rs940521825
|
0.00009
|
|
NM_003392.7(WNT5A):c.502G>A (p.Ala168Thr)
|
rs572796263
|
0.00009
|
|
NM_003611.3(OFD1):c.1271A>G (p.Asn424Ser)
|
rs532274932
|
0.00009
|
|
NM_003640.5(ELP1):c.1644-13T>C
|
rs557540663
|
0.00009
|
|
NM_003647.3(DGKE):c.888+12T>C
|
rs557770879
|
0.00009
|
|
NM_003982.4(SLC7A7):c.273G>A (p.Ala91=)
|
rs754387668
|
0.00009
|
|
NM_004333.6(BRAF):c.1993-11T>C
|
rs750297886
|
0.00009
|
|
NM_004333.6(BRAF):c.399A>G (p.Ser133=)
|
rs397507463
|
0.00009
|
|
NM_004380.3(CREBBP):c.1143G>A (p.Ser381=)
|
rs147342740
|
0.00009
|
|
NM_004380.3(CREBBP):c.2118A>G (p.Gly706=)
|
rs778065124
|
0.00009
|
|
NM_004380.3(CREBBP):c.3204C>T (p.Asn1068=)
|
rs150189749
|
0.00009
|
|
NM_004380.3(CREBBP):c.681T>C (p.Pro227=)
|
rs201193684
|
0.00009
|
|
NM_004525.3(LRP2):c.12989-10C>T
|
rs186870588
|
0.00009
|
|
NM_004525.3(LRP2):c.3191-17G>A
|
rs763192172
|
0.00009
|
|
NM_004525.3(LRP2):c.4294+20G>A
|
rs377152498
|
0.00009
|
|
NM_004525.3(LRP2):c.4755C>T (p.Asp1585=)
|
rs141871628
|
0.00009
|
|
NM_004525.3(LRP2):c.7878G>A (p.Gln2626=)
|
rs199593393
|
0.00009
|
|
NM_004606.5(TAF1):c.4155G>A (p.Thr1385=)
|
rs202158967
|
0.00009
|
|
NM_004655.4(AXIN2):c.2406-8C>G
|
rs143905290
|
0.00009
|
|
NM_004937.3(CTNS):c.684C>T (p.Arg228=)
|
rs762346133
|
0.00009
|
|
NM_005026.5(PIK3CD):c.2997+10G>A
|
rs377699493
|
0.00009
|
|
NM_005506.4(SCARB2):c.1187+18C>T
|
rs202159028
|
0.00009
|
|
NM_005506.4(SCARB2):c.275+20T>C
|
rs377180838
|
0.00009
|
|
NM_006005.3(WFS1):c.1494C>T (p.Val498=)
|
rs778206175
|
0.00009
|
|
NM_006005.3(WFS1):c.1770G>A (p.Thr590=)
|
rs71532858
|
0.00009
|
|
NM_006005.3(WFS1):c.747G>A (p.Glu249=)
|
rs752638064
|
0.00009
|
|
NM_006005.3(WFS1):c.862-19C>T
|
rs370767782
|
0.00009
|
|
NM_006208.3(ENPP1):c.750G>A (p.Pro250=)
|
rs368742582
|
0.00009
|
|
NM_006642.5(SDCCAG8):c.729G>A (p.Leu243=)
|
rs199629519
|
0.00009
|
|
NM_006642.5(SDCCAG8):c.915C>T (p.Ile305=)
|
rs371251483
|
0.00009
|
|
NM_006662.3(SRCAP):c.3183T>C (p.Ile1061=)
|
rs1312053021
|
0.00009
|
|
NM_006662.3(SRCAP):c.4170C>T (p.Pro1390=)
|
rs769774517
|
0.00009
|
|
NM_006662.3(SRCAP):c.6664G>A (p.Val2222Met)
|
rs201837401
|
0.00009
|
|
NM_006662.3(SRCAP):c.7777C>T (p.Leu2593=)
|
rs200333706
|
0.00009
|
|
NM_006915.3(RP2):c.751A>G (p.Arg251Gly)
|
rs190443020
|
0.00009
|
|
NM_007214.5(SEC63):c.807G>A (p.Thr269=)
|
rs182467867
|
0.00009
|
|
NM_007327.4(GRIN1):c.394-4G>A
|
rs202180269
|
0.00009
|
|
NM_012120.3(CD2AP):c.730-7A>G
|
rs368514132
|
0.00009
|
|
NM_012120.3(CD2AP):c.792C>T (p.Thr264=)
|
rs144912461
|
0.00009
|
|
NM_012330.4(KAT6B):c.147A>G (p.Glu49=)
|
rs1041827351
|
0.00009
|
|
NM_012330.4(KAT6B):c.5433G>A (p.Pro1811=)
|
rs201084874
|
0.00009
|
|
NM_012431.3(SEMA3E):c.1366+11G>A
|
rs369202554
|
0.00009
|
|
NM_012431.3(SEMA3E):c.651C>T (p.Asp217=)
|
rs766680673
|
0.00009
|
|
NM_014140.4(SMARCAL1):c.2712G>A (p.Glu904=)
|
rs150767214
|
0.00009
|
|
NM_014714.4(IFT140):c.1995C>T (p.Ala665=)
|
rs200653061
|
0.00009
|
|
NM_014714.4(IFT140):c.2199+19C>T
|
rs773530788
|
0.00009
|
|
NM_014714.4(IFT140):c.2844C>T (p.Tyr948=)
|
rs777036003
|
0.00009
|
|
NM_015158.5(KANK1):c.2646T>G (p.Thr882=)
|
rs116342444
|
0.00009
|
|
NM_015506.3(MMACHC):c.462T>C (p.Phe154=)
|
rs199747998
|
0.00009
|
|
NM_015506.3(MMACHC):c.699A>G (p.Leu233=)
|
rs377439596
|
0.00009
|
|
NM_015662.3(IFT172):c.1608C>T (p.Asp536=)
|
rs749114212
|
0.00009
|
|
NM_015915.5(ATL1):c.417+3A>G
|
rs200310890
|
0.00009
|
|
NM_016335.6(PRODH):c.174G>T (p.Ala58=)
|
rs931875471
|
0.00009
|
|
NM_016341.4(PLCE1):c.3303C>T (p.Asp1101=)
|
rs773286585
|
0.00009
|
|
NM_016341.4(PLCE1):c.5979T>C (p.Ser1993=)
|
rs200943442
|
0.00009
|
|
NM_017617.5(NOTCH1):c.4586+10C>T
|
rs760225110
|
0.00009
|
|
NM_017780.4(CHD7):c.8661G>A (p.Pro2887=)
|
rs148517660
|
0.00009
|
|
NM_017827.4(SARS2):c.1348-19G>A
|
rs540813245
|
0.00009
|
|
NM_017909.4(RMND1):c.614-18G>A
|
rs764159292
|
0.00009
|
|
NM_017947.4(MOCOS):c.1422G>A (p.Thr474=)
|
rs34489411
|
0.00009
|
|
NM_018979.4(WNK1):c.5418A>G (p.Pro1806=)
|
rs56245971
|
0.00009
|
|
NM_020937.4(FANCM):c.1668T>C (p.Asp556=)
|
rs142380037
|
0.00009
|
|
NM_020975.6(RET):c.1530C>T (p.Ala510=)
|
rs553492964
|
0.00009
|
|
NM_021098.3(CACNA1H):c.1911C>T (p.Ala637=)
|
rs539497900
|
0.00009
|
|
NM_021098.3(CACNA1H):c.2103G>A (p.Pro701=)
|
rs59906488
|
0.00009
|
|
NM_021098.3(CACNA1H):c.2742C>T (p.Asn914=)
|
rs375091126
|
0.00009
|
|
NM_021098.3(CACNA1H):c.3543C>T (p.Asp1181=)
|
rs958144782
|
0.00009
|
|
NM_021098.3(CACNA1H):c.3744+9G>A
|
rs377367672
|
0.00009
|
|
NM_021098.3(CACNA1H):c.4371C>T (p.Tyr1457=)
|
rs72552043
|
0.00009
|
|
NM_021098.3(CACNA1H):c.4659C>T (p.Val1553=)
|
rs372465474
|
0.00009
|
|
NM_021098.3(CACNA1H):c.4812G>A (p.Ser1604=)
|
rs377611664
|
0.00009
|
|
NM_021098.3(CACNA1H):c.663T>A (p.Thr221=)
|
rs368713417
|
0.00009
|
|
NM_022042.4(SLC26A1):c.1116T>C (p.Arg372=)
|
rs559991759
|
0.00009
|
|
NM_022042.4(SLC26A1):c.1404G>A (p.Pro468=)
|
rs370491888
|
0.00009
|
|
NM_022042.4(SLC26A1):c.1848C>T (p.Cys616=)
|
rs377435206
|
0.00009
|
|
NM_022455.5(NSD1):c.6795C>T (p.Ser2265=)
|
rs148585227
|
0.00009
|
|
NM_022455.5(NSD1):c.7275A>G (p.Leu2425=)
|
rs139879749
|
0.00009
|
|
NM_022464.5(SIL1):c.274C>T (p.Arg92Trp)
|
rs149242794
|
0.00009
|
|
NM_022489.4(INF2):c.1640G>A (p.Gly547Asp)
|
rs376451593
|
0.00009
|
|
NM_022489.4(INF2):c.1806C>T (p.Ile602=)
|
rs760506368
|
0.00009
|
|
NM_022489.4(INF2):c.2622G>A (p.Ser874=)
|
rs374311535
|
0.00009
|
|
NM_022489.4(INF2):c.354C>T (p.Ile118=)
|
rs771038193
|
0.00009
|
|
NM_022489.4(INF2):c.798C>G (p.Val266=)
|
rs375005967
|
0.00009
|
|
NM_023110.3(FGFR1):c.921T>C (p.Tyr307=)
|
rs377010221
|
0.00009
|
|
NM_024079.5(ALG8):c.1178+7A>G
|
rs766278533
|
0.00009
|
|
NM_024408.4(NOTCH2):c.1681+9C>A
|
rs192886452
|
0.00009
|
|
NM_024422.6(DSC2):c.-25C>G
|
rs904308285
|
0.00009
|
|
NM_024580.6(EFL1):c.1398A>G (p.Gln466=)
|
rs374308281
|
0.00009
|
|
NM_024649.5(BBS1):c.54G>A (p.Glu18=)
|
rs761128852
|
0.00009
|
|
NM_024753.5(TTC21B):c.453T>G (p.Leu151=)
|
rs148935124
|
0.00009
|
|
NM_024753.5(TTC21B):c.553-20C>G
|
rs376144362
|
0.00009
|
|
NM_025074.7(FRAS1):c.10540+15G>A
|
rs766110910
|
0.00009
|
|
NM_025074.7(FRAS1):c.1716C>T (p.Ser572=)
|
rs756854613
|
0.00009
|
|
NM_025114.4(CEP290):c.5012+10C>T
|
rs191369238
|
0.00009
|
|
NM_025132.4(WDR19):c.99-11A>C
|
rs756899296
|
0.00009
|
|
NM_030662.4(MAP2K2):c.919+4C>T
|
rs763424788
|
0.00009
|
|
NM_030787.4(CFHR5):c.1116C>T (p.Asn372=)
|
rs556270179
|
0.00009
|
|
NM_030962.4(SBF2):c.5037+12A>G
|
rs372500490
|
0.00009
|
|
NM_031885.5(BBS2):c.612+18G>A
|
rs200364314
|
0.00009
|
|
NM_032444.4(SLX4):c.1641G>A (p.Thr547=)
|
rs200497436
|
0.00009
|
|
NM_033380.3(COL4A5):c.4075A>G (p.Ile1359Val)
|
rs748850424
|
0.00009
|
|
NM_053025.4(MYLK):c.3183C>T (p.Ser1061=)
|
rs370194660
|
0.00009
|
|
NM_054027.6(ANKH):c.1338C>T (p.Ile446=)
|
rs756749018
|
0.00009
|
|
NM_138694.4(PKHD1):c.12087G>A (p.Gln4029=)
|
rs750130747
|
0.00009
|
|
NM_144585.4(SLC22A12):c.615G>A (p.Leu205=)
|
rs71581772
|
0.00009
|
|
NM_144997.7(FLCN):c.1432+8C>T
|
rs201898226
|
0.00009
|
|
NM_144997.7(FLCN):c.779+9C>T
|
rs373504780
|
0.00009
|
|
NM_147127.5(EVC2):c.2077G>A (p.Val693Ile)
|
rs199824658
|
0.00009
|
|
NM_152564.5(VPS13B):c.10868-7G>A
|
rs376141593
|
0.00009
|
|
NM_152618.3(BBS12):c.1467A>G (p.Ala489=)
|
rs148850607
|
0.00009
|
|
NM_152703.5(SAMD9L):c.2114A>G (p.Tyr705Cys)
|
rs144236612
|
0.00009
|
|
NM_153240.5(NPHP3):c.2931A>G (p.Leu977=)
|
rs146316936
|
0.00009
|
|
NM_173551.5(ANKS6):c.354G>A (p.Ala118=)
|
rs980440912
|
0.00009
|
|
NM_174936.4(PCSK9):c.276G>A (p.Glu92=)
|
rs147865087
|
0.00009
|
|
NM_177965.4(CFAP418):c.375-16T>A
|
rs756845953
|
0.00009
|
|
NM_178170.3(NEK8):c.889+17C>T
|
rs577084302
|
0.00009
|
|
NM_181486.4(TBX5):c.147+9A>T
|
rs375693592
|
0.00009
|
|
NM_198252.3(GSN):c.276C>T (p.Ala92=)
|
rs548138013
|
0.00009
|
|
NM_198252.3(GSN):c.303C>T (p.Phe101=)
|
rs373779982
|
0.00009
|
|
NM_198252.3(GSN):c.741C>T (p.Ala247=)
|
rs751823302
|
0.00009
|
|
NM_198428.3(BBS9):c.678A>G (p.Lys226=)
|
rs201231133
|
0.00009
|
|
NM_201596.3(CACNB2):c.334-7A>T
|
rs779728445
|
0.00009
|
|
NM_212482.4(FN1):c.3492G>A (p.Ala1164=)
|
rs548899134
|
0.00009
|
|
NM_000038.6(APC):c.573T>C (p.Tyr191=)
|
rs185154886
|
0.00008
|
|
NM_000059.4(BRCA2):c.3420T>C (p.Ser1140=)
|
rs118093942
|
0.00008
|
|
NM_000069.3(CACNA1S):c.2361-10G>A
|
rs533238983
|
0.00008
|
|
NM_000069.3(CACNA1S):c.2628G>T (p.Val876=)
|
rs200898535
|
0.00008
|
|
NM_000102.4(CYP17A1):c.1194G>A (p.Ala398=)
|
rs201222065
|
0.00008
|
|
NM_000136.3(FANCC):c.1533+13G>A
|
rs200515307
|
0.00008
|
|
NM_000214.3(JAG1):c.1720+17G>A
|
rs371096301
|
0.00008
|
|
NM_000243.3(MEFV):c.765A>G (p.Ala255=)
|
rs771714168
|
0.00008
|
|
NM_000251.3(MSH2):c.1690A>G (p.Thr564Ala)
|
rs55778204
|
0.00008
|
|
NM_000260.4(MYO7A):c.5355G>A (p.Pro1785=)
|
rs372311564
|
0.00008
|
|
NM_000276.4(OCRL):c.11C>T (p.Pro4Leu)
|
rs770815981
|
0.00008
|
|
NM_000291.4(PGK1):c.129T>C (p.Ala43=)
|
rs781822299
|
0.00008
|
|
NM_000297.4(PKD2):c.1717-7C>T
|
rs201267638
|
0.00008
|
|
NM_000303.3(PMM2):c.513G>A (p.Thr171=)
|
rs371399381
|
0.00008
|
|
NM_000316.3(PTH1R):c.1212-18C>T
|
rs200401411
|
0.00008
|
|
NM_000334.4(SCN4A):c.1845+12del
|
rs756462178
|
0.00008
|
|
NM_000334.4(SCN4A):c.2685C>T (p.Asn895=)
|
rs760183656
|
0.00008
|
|
NM_000334.4(SCN4A):c.4602G>A (p.Thr1534=)
|
rs186181122
|
0.00008
|
|
NM_000341.4(SLC3A1):c.1011+12T>C
|
rs370288046
|
0.00008
|
|
NM_000342.4(SLC4A1):c.1800+12C>T
|
rs556266412
|
0.00008
|
|
NM_000352.6(ABCC8):c.1662T>G (p.Ala554=)
|
rs368782953
|
0.00008
|
|
NM_000352.6(ABCC8):c.765C>T (p.Ile255=)
|
rs753335564
|
0.00008
|
|
NM_000393.5(COL5A2):c.2895A>G (p.Pro965=)
|
rs760946138
|
0.00008
|
|
NM_000458.4(HNF1B):c.660T>C (p.Asp220=)
|
rs779375959
|
0.00008
|
|
NM_000548.5(TSC2):c.1628C>T (p.Pro543Leu)
|
rs45517188
|
0.00008
|
|
NM_000548.5(TSC2):c.3815-16C>T
|
rs546810161
|
0.00008
|
|
NM_000548.5(TSC2):c.775-4G>A
|
rs754957491
|
0.00008
|
|
NM_000748.3(CHRNB2):c.1488C>T (p.His496=)
|
rs200582284
|
0.00008
|
|
NM_000890.5(KCNJ5):c.738G>A (p.Glu246=)
|
rs372736753
|
0.00008
|
|
NM_001009944.3(PKD1):c.8016+7T>C
|
rs746089639
|
0.00008
|
|
NM_001009944.3(PKD1):c.9093G>T (p.Leu3031=)
|
rs1159235832
|
0.00008
|
|
NM_001018113.3(FANCB):c.330A>C (p.Leu110=)
|
rs201633684
|
0.00008
|
|
NM_001018115.3(FANCD2):c.439-18C>A
|
rs184060118
|
0.00008
|
|
NM_001022.4(RPS19):c.333A>G (p.Lys111=)
|
rs781845960
|
0.00008
|
|
NM_001029.5(RPS26):c.63T>A (p.Ile21=)
|
rs148167449
|
0.00008
|
|
NM_001042413.2(GLIS3):c.1984-16C>T
|
rs145670205
|
0.00008
|
|
NM_001046.3(SLC12A2):c.877-16C>G
|
rs530956302
|
0.00008
|
|
NM_001099922.3(ALG13):c.2933-15G>T
|
rs372767806
|
0.00008
|
|
NM_001099922.3(ALG13):c.975T>G (p.Thr325=)
|
rs767735916
|
0.00008
|
|
NM_001102564.3(IFT43):c.445-15T>C
|
rs745766333
|
0.00008
|
|
NM_001110556.2(FLNA):c.1581C>T (p.Arg527=)
|
rs782684339
|
0.00008
|
|
NM_001113378.2(FANCI):c.669+14A>G
|
rs369804967
|
0.00008
|
|
NM_001122955.4(BSCL2):c.88-19C>T
|
rs760935362
|
0.00008
|
|
NM_001127222.2(CACNA1A):c.979-10C>A
|
rs374647321
|
0.00008
|
|
NM_001127671.2(LIFR):c.1722G>A (p.Ser574=)
|
rs200521119
|
0.00008
|
|
NM_001184.4(ATR):c.7902C>T (p.Cys2634=)
|
rs553715098
|
0.00008
|
|
NM_001277115.2(DNAH11):c.3843G>A (p.Ala1281=)
|
rs374551688
|
0.00008
|
|
NM_001278293.3(ARL6):c.350-7C>T
|
rs375454860
|
0.00008
|
|
NM_001289104.2(PRKCSH):c.1476C>T (p.Cys492=)
|
rs770480368
|
0.00008
|
|
NM_001289104.2(PRKCSH):c.1536G>A (p.Glu512=)
|
rs374970694
|
0.00008
|
|
NM_001347721.2(DYRK1A):c.2049T>C (p.Phe683=)
|
rs375130004
|
0.00008
|
|
NM_001372066.1(TFAP2A):c.1215C>T (p.Thr405=)
|
rs201494266
|
0.00008
|
|
NM_001377.3(DYNC2H1):c.7794A>G (p.Pro2598=)
|
rs781691287
|
0.00008
|
|
NM_001378454.1(ALMS1):c.9908-12G>A
|
rs376627151
|
0.00008
|
|
NM_001458.5(FLNC):c.7434C>T (p.Ile2478=)
|
rs773767211
|
0.00008
|
|
NM_001692.4(ATP6V1B1):c.1533T>C (p.Thr511=)
|
rs782329243
|
0.00008
|
|
NM_001845.6(COL4A1):c.3714C>T (p.Arg1238=)
|
rs377765047
|
0.00008
|
|
NM_001909.5(CTSD):c.630C>T (p.Asn210=)
|
rs375282504
|
0.00008
|
|
NM_001963.6(EGF):c.192C>A (p.Thr64=)
|
rs367667834
|
0.00008
|
|
NM_001963.6(EGF):c.720T>C (p.Ile240=)
|
rs200702456
|
0.00008
|
|
NM_001999.4(FBN2):c.3518C>G (p.Thr1173Ser)
|
rs199678757
|
0.00008
|
|
NM_002067.5(GNA11):c.889+14C>T
|
rs369371015
|
0.00008
|
|
NM_002087.4(GRN):c.626C>T (p.Pro209Leu)
|
rs368995988
|
0.00008
|
|
NM_002241.5(KCNJ10):c.114C>T (p.Asn38=)
|
rs151068619
|
0.00008
|
|
NM_002246.3(KCNK3):c.486C>T (p.Ile162=)
|
rs540879740
|
0.00008
|
|
NM_002335.4(LRP5):c.3901G>A (p.Ala1301Thr)
|
rs149166384
|
0.00008
|
|
NM_002471.4(MYH6):c.1141+11C>T
|
rs373521230
|
0.00008
|
|
NM_002473.6(MYH9):c.4558-11C>G
|
rs200820677
|
0.00008
|
|
NM_002968.3(SALL1):c.3330T>C (p.Ser1110=)
|
rs374166565
|
0.00008
|
|
NM_003001.5(SDHC):c.405+13G>A
|
rs369274171
|
0.00008
|
|
NM_003239.5(TGFB3):c.101A>G (p.His34Arg)
|
rs199791687
|
0.00008
|
|
NM_003722.5(TP63):c.882+19A>T
|
rs200703504
|
0.00008
|
|
NM_004304.5(ALK):c.2632+17G>A
|
rs201350160
|
0.00008
|
|
NM_004366.6(CLCN2):c.1141C>G (p.Pro381Ala)
|
rs141605519
|
0.00008
|
|
NM_004415.4(DSP):c.888C>T (p.Tyr296=)
|
rs149701627
|
0.00008
|
|
NM_004525.3(LRP2):c.10413C>T (p.Thr3471=)
|
rs781066641
|
0.00008
|
|
NM_004525.3(LRP2):c.13519-18T>C
|
rs1031924195
|
0.00008
|
|
NM_004525.3(LRP2):c.3333C>T (p.Asp1111=)
|
rs372322747
|
0.00008
|
|
NM_004525.3(LRP2):c.909C>T (p.Thr303=)
|
rs375394006
|
0.00008
|
|
NM_004646.4(NPHS1):c.1113G>C (p.Leu371=)
|
rs547598963
|
0.00008
|
|
NM_004933.3(CDH15):c.178C>T (p.Arg60Cys)
|
rs121434539
|
0.00008
|
|
NM_004944.4(DNASE1L3):c.433+15G>A
|
rs376623875
|
0.00008
|
|
NM_005188.4(CBL):c.2349C>T (p.Ala783=)
|
rs552509693
|
0.00008
|
|
NM_005982.4(SIX1):c.474C>T (p.Ala158=)
|
rs199743522
|
0.00008
|
|
NM_006005.3(WFS1):c.1148G>A (p.Arg383His)
|
rs369450642
|
0.00008
|
|
NM_006005.3(WFS1):c.2391C>T (p.Asp797=)
|
rs548415089
|
0.00008
|
|
NM_006005.3(WFS1):c.393C>T (p.Val131=)
|
rs758199900
|
0.00008
|
|
NM_006662.3(SRCAP):c.3542-5T>C
|
rs141077295
|
0.00008
|
|
NM_014009.4(FOXP3):c.647+19T>G
|
rs371187277
|
0.00008
|
|
NM_014270.5(SLC7A9):c.977+17G>A
|
rs376464833
|
0.00008
|
|
NM_014714.4(IFT140):c.3639G>A (p.Thr1213=)
|
rs747655543
|
0.00008
|
|
NM_014714.4(IFT140):c.4183-20T>C
|
rs371461352
|
0.00008
|
|
NM_014956.5(CEP164):c.4104C>T (p.Ile1368=)
|
rs371631049
|
0.00008
|
|
NM_015662.3(IFT172):c.3933G>A (p.Ala1311=)
|
rs143011753
|
0.00008
|
|
NM_015662.3(IFT172):c.732C>T (p.Thr244=)
|
rs778790509
|
0.00008
|
|
NM_015978.3(TNNI3K):c.193G>T (p.Glu65Ter)
|
rs201061482
|
0.00008
|
|
NM_017570.5(OPLAH):c.1497C>T (p.Ile499=)
|
rs369897941
|
0.00008
|
|
NM_017617.5(NOTCH1):c.5018+13C>T
|
rs752508890
|
0.00008
|
|
NM_017780.4(CHD7):c.3765G>A (p.Pro1255=)
|
rs371633293
|
0.00008
|
|
NM_017780.4(CHD7):c.3778+17C>T
|
rs111863846
|
0.00008
|
|
NM_017780.4(CHD7):c.4644+17A>G
|
rs376953317
|
0.00008
|
|
NM_018486.3(HDAC8):c.384C>T (p.Asp128=)
|
rs1250641302
|
0.00008
|
|
NM_018699.4(PRDM5):c.300+17C>T
|
rs376707809
|
0.00008
|
|
NM_018941.4(CLN8):c.300G>A (p.Gln100=)
|
rs148988002
|
0.00008
|
|
NM_018979.4(WNK1):c.3019A>G (p.Met1007Val)
|
rs191295023
|
0.00008
|
|
NM_018979.4(WNK1):c.5001C>T (p.Ser1667=)
|
rs187067527
|
0.00008
|
|
NM_020760.4(HECW2):c.3238+9T>C
|
rs201438025
|
0.00008
|
|
NM_020937.4(FANCM):c.3735A>T (p.Ile1245=)
|
rs574509639
|
0.00008
|
|
NM_020937.4(FANCM):c.4222+18dup
|
rs760075544
|
0.00008
|
|
NM_020975.6(RET):c.1596C>T (p.Gly532=)
|
rs144460361
|
0.00008
|
|
NM_020975.6(RET):c.3156C>T (p.Leu1052=)
|
rs191769748
|
0.00008
|
|
NM_021098.3(CACNA1H):c.5760C>T (p.Ser1920=)
|
rs144424401
|
0.00008
|
|
NM_021098.3(CACNA1H):c.6618C>T (p.Pro2206=)
|
rs755043976
|
0.00008
|
|
NM_021098.3(CACNA1H):c.801C>T (p.Val267=)
|
rs372726042
|
0.00008
|
|
NM_021922.3(FANCE):c.1238-10C>T
|
rs765940689
|
0.00008
|
|
NM_022455.5(NSD1):c.7350T>C (p.Asn2450=)
|
rs200241618
|
0.00008
|
|
NM_022489.4(INF2):c.668-12G>A
|
rs367924307
|
0.00008
|
|
NM_023110.3(FGFR1):c.1888C>T (p.Leu630=)
|
rs746123129
|
0.00008
|
|
NM_024334.3(TMEM43):c.798G>A (p.Arg266=)
|
rs139078900
|
0.00008
|
|
NM_024426.6(WT1):c.887+14G>A
|
rs757237600
|
0.00008
|
|
NM_024753.5(TTC21B):c.3552G>A (p.Ala1184=)
|
rs148113339
|
0.00008
|
|
NM_031885.5(BBS2):c.1528-15G>T
|
rs368282063
|
0.00008
|
|
NM_032444.4(SLX4):c.5229G>A (p.Ser1743=)
|
rs140231739
|
0.00008
|
|
NM_080425.4(GNAS):c.913T>C (p.Ser305Pro)
|
rs376517306
|
0.00008
|
|
NM_133261.3(GIPC3):c.57G>T (p.Ala19=)
|
rs754337950
|
0.00008
|
|
NM_144596.4(TTC8):c.1347+18G>A
|
rs368504643
|
0.00008
|
|
NM_144997.7(FLCN):c.792G>A (p.Ala264=)
|
rs140500421
|
0.00008
|
|
NM_152384.3(BBS5):c.523-18C>T
|
rs201051397
|
0.00008
|
|
NM_152384.3(BBS5):c.60-3T>C
|
rs201553380
|
0.00008
|
|
NM_170784.3(MKKS):c.1356T>C (p.Ser452=)
|
rs201977053
|
0.00008
|
|
NM_172351.3(CD46):c.261A>G (p.Leu87=)
|
rs115385712
|
0.00008
|
|
NM_173551.5(ANKS6):c.1185G>A (p.Thr395=)
|
rs146980948
|
0.00008
|
|
NM_181776.3(SLC36A2):c.766T>C (p.Leu256=)
|
rs780286885
|
0.00008
|
|
NM_182643.3(DLC1):c.3609C>A (p.Thr1203=)
|
rs145989730
|
0.00008
|
|
NM_198428.3(BBS9):c.2313G>A (p.Thr771=)
|
rs374269883
|
0.00008
|
|
NM_206933.2(USH2A):c.3902G>T (p.Gly1301Val)
|
rs111033524
|
0.00008
|
|
NM_000053.4(ATP7B):c.3211T>C (p.Leu1071=)
|
rs748003525
|
0.00007
|
|
NM_000067.3(CA2):c.607C>A (p.Leu203Met)
|
rs548376992
|
0.00007
|
|
NM_000067.3(CA2):c.618G>A (p.Val206=)
|
rs369700367
|
0.00007
|
|
NM_000069.3(CACNA1S):c.1619+9C>T
|
rs372942667
|
0.00007
|
|
NM_000069.3(CACNA1S):c.3429G>A (p.Ser1143=)
|
rs373033092
|
0.00007
|
|
NM_000091.5(COL4A3):c.4314T>C (p.Pro1438=)
|
rs750401163
|
0.00007
|
|
NM_000092.5(COL4A4):c.2322T>A (p.Gly774=)
|
rs370383308
|
0.00007
|
|
NM_000135.4(FANCA):c.3420C>T (p.Asn1140=)
|
rs369765552
|
0.00007
|
|
NM_000168.6(GLI3):c.1740C>T (p.His580=)
|
rs146154710
|
0.00007
|
|
NM_000168.6(GLI3):c.4524C>T (p.Ala1508=)
|
rs201112421
|
0.00007
|
|
NM_000168.6(GLI3):c.528C>T (p.Ile176=)
|
rs539622820
|
0.00007
|
|
NM_000186.4(CFH):c.350+9T>C
|
rs201686629
|
0.00007
|
|
NM_000209.4(PDX1):c.498A>G (p.Leu166=)
|
rs780117858
|
0.00007
|
|
NM_000214.3(JAG1):c.1344C>T (p.Asp448=)
|
rs754081766
|
0.00007
|
|
NM_000243.3(MEFV):c.416C>A (p.Ala139Asp)
|
rs575678784
|
0.00007
|
|
NM_000274.4(OAT):c.1110C>T (p.Ala370=)
|
rs148325838
|
0.00007
|
|
NM_000281.4(PCBD1):c.27C>T (p.Ser9=)
|
rs547375927
|
0.00007
|
|
NM_000297.4(PKD2):c.2499C>T (p.Gly833=)
|
rs180709531
|
0.00007
|
|
NM_000340.2(SLC2A2):c.372-16C>T
|
rs372176041
|
0.00007
|
|
NM_000340.2(SLC2A2):c.496+6_496+7dup
|
rs111737375
|
0.00007
|
|
NM_000388.4(CASR):c.825T>C (p.Asp275=)
|
rs199836910
|
0.00007
|
|
NM_000391.4(TPP1):c.1033A>C (p.Met345Leu)
|
rs141482368
|
0.00007
|
|
NM_000426.4(LAMA2):c.711C>T (p.Ser237=)
|
rs369745832
|
0.00007
|
|
NM_000431.4(MVK):c.942T>A (p.Ser314=)
|
rs201216490
|
0.00007
|
|
NM_000458.4(HNF1B):c.1534+10C>T
|
rs368168569
|
0.00007
|
|
NM_000498.3(CYP11B2):c.435C>T (p.Asn145=)
|
rs200831024
|
0.00007
|
|
NM_000503.6(EYA1):c.1377T>A (p.Ala459=)
|
rs112593082
|
0.00007
|
|
NM_000535.7(PMS2):c.1280G>A (p.Arg427His)
|
rs112902065
|
0.00007
|
|
NM_000540.3(RYR1):c.10476A>G (p.Glu3492=)
|
rs767496164
|
0.00007
|
|
NM_000540.3(RYR1):c.8342T>C (p.Ile2781Thr)
|
rs767805554
|
0.00007
|
|
NM_000543.5(SMPD1):c.174G>A (p.Pro58=)
|
rs368143181
|
0.00007
|
|
NM_000548.5(TSC2):c.1131C>T (p.Ser377=)
|
rs201525586
|
0.00007
|
|
NM_000548.5(TSC2):c.2220+12G>A
|
rs780039835
|
0.00007
|
|
NM_000548.5(TSC2):c.4008G>A (p.Ser1336=)
|
rs760704956
|
0.00007
|
|
NM_000548.5(TSC2):c.4521C>T (p.Ser1507=)
|
rs140081676
|
0.00007
|
|
NM_000548.5(TSC2):c.4851C>T (p.Ala1617=)
|
rs556045045
|
0.00007
|
|
NM_000548.5(TSC2):c.5259+9T>C
|
rs1057522018
|
0.00007
|
|
NM_000944.5(PPP3CA):c.1389A>G (p.Pro463=)
|
rs200900879
|
0.00007
|
|
NM_001002295.2(GATA3):c.870C>T (p.Leu290=)
|
rs575091
|
0.00007
|
|
NM_001008388.5(CISD2):c.319-20T>C
|
rs933913005
|
0.00007
|
|
NM_001009944.3(PKD1):c.11577G>T (p.Pro3859=)
|
rs374609310
|
0.00007
|
|
NM_001009944.3(PKD1):c.11713-3C>T
|
rs754015180
|
0.00007
|
|
NM_001009944.3(PKD1):c.1890G>A (p.Pro630=)
|
rs1344519371
|
0.00007
|
|
NM_001041.4(SI):c.5049A>G (p.Leu1683=)
|
rs199658617
|
0.00007
|
|
NM_001042413.2(GLIS3):c.1686T>G (p.Ser562=)
|
rs745836279
|
0.00007
|
|
NM_001098.3(ACO2):c.941-19C>T
|
rs375652573
|
0.00007
|
|
NM_001099922.3(ALG13):c.288C>T (p.Leu96=)
|
rs369867857
|
0.00007
|
|
NM_001105206.3(LAMA4):c.196-11G>A
|
rs374364713
|
0.00007
|
|
NM_001127222.2(CACNA1A):c.6527-16C>T
|
rs752985059
|
0.00007
|
|
NM_001130144.3(LTBP3):c.3519A>G (p.Gln1173=)
|
rs538479771
|
0.00007
|
|
NM_001130823.3(DNMT1):c.1986C>T (p.Asn662=)
|
rs377704053
|
0.00007
|
|
NM_001134831.2(AHI1):c.573A>C (p.Ala191=)
|
rs200993978
|
0.00007
|
|
NM_001136193.2(FASTKD2):c.2124C>T (p.Ser708=)
|
rs200616436
|
0.00007
|
|
NM_001144967.3(NEDD4L):c.990+8G>C
|
rs760145364
|
0.00007
|
|
NM_001164277.2(SLC37A4):c.567T>C (p.Asn189=)
|
rs368678559
|
0.00007
|
|
NM_001164508.2(NEB):c.19732-8C>T
|
rs137934821
|
0.00007
|
|
NM_001243133.2(NLRP3):c.1665C>T (p.Asp555=)
|
rs151097783
|
0.00007
|
|
NM_001243133.2(NLRP3):c.277+11G>A
|
rs577522959
|
0.00007
|
|
NM_001267550.2(TTN):c.64326G>A (p.Ala21442=)
|
rs377109969
|
0.00007
|
|
NM_001282225.2(ADA2):c.754-12del
|
rs767647109
|
0.00007
|
|
NM_001289104.2(PRKCSH):c.279C>T (p.Asn93=)
|
rs777837737
|
0.00007
|
|
NM_001378454.1(ALMS1):c.11265C>T (p.Ser3755=)
|
rs145984939
|
0.00007
|
|
NM_001378454.1(ALMS1):c.6615A>T (p.Leu2205=)
|
rs375011895
|
0.00007
|
|
NM_001378454.1(ALMS1):c.8730T>C (p.His2910=)
|
rs374693631
|
0.00007
|
|
NM_001384732.1(CPLANE1):c.8739C>T (p.Asp2913=)
|
rs376535591
|
0.00007
|
|
NM_001692.4(ATP6V1B1):c.231C>T (p.Ser77=)
|
rs151191933
|
0.00007
|
|
NM_001715.3(BLK):c.859G>A (p.Val287Met)
|
rs1042687
|
0.00007
|
|
NM_001735.3(C5):c.928C>T (p.Leu310=)
|
rs375870111
|
0.00007
|
|
NM_001845.6(COL4A1):c.4449T>C (p.His1483=)
|
rs777962282
|
0.00007
|
|
NM_001845.6(COL4A1):c.4716C>T (p.Ser1572=)
|
rs200290773
|
0.00007
|
|
NM_001851.6(COL9A1):c.88+19A>C
|
rs188749185
|
0.00007
|
|
NM_001876.4(CPT1A):c.525G>A (p.Pro175=)
|
rs371805329
|
0.00007
|
|
NM_001943.5(DSG2):c.3195T>C (p.Thr1065=)
|
rs544981484
|
0.00007
|
|
NM_002067.5(GNA11):c.489C>T (p.Asp163=)
|
rs141926949
|
0.00007
|
|
NM_002204.4(ITGA3):c.2964C>T (p.Ala988=)
|
rs140166180
|
0.00007
|
|
NM_002335.4(LRP5):c.1585-10C>T
|
rs200827533
|
0.00007
|
|
NM_002335.4(LRP5):c.4065C>T (p.Cys1355=)
|
rs770762272
|
0.00007
|
|
NM_002472.3(MYH8):c.479T>A (p.Ile160Asn)
|
rs760980150
|
0.00007
|
|
NM_002661.5(PLCG2):c.2055-10C>A
|
rs747616797
|
0.00007
|
|
NM_002661.5(PLCG2):c.2236-15_2236-14insG
|
rs768770205
|
0.00007
|
|
NM_002968.3(SALL1):c.1953C>T (p.Pro651=)
|
rs147169088
|
0.00007
|
|
NM_002968.3(SALL1):c.3084A>G (p.Pro1028=)
|
rs377643763
|
0.00007
|
|
NM_003640.5(ELP1):c.1599A>G (p.Ala533=)
|
rs771318456
|
0.00007
|
|
NM_003664.5(AP3B1):c.1367T>C (p.Ile456Thr)
|
rs536306260
|
0.00007
|
|
NM_004333.6(BRAF):c.1694+13C>T
|
rs368578780
|
0.00007
|
|
NM_004380.3(CREBBP):c.1633T>C (p.Leu545=)
|
rs371285951
|
0.00007
|
|
NM_004380.3(CREBBP):c.2439G>A (p.Pro813=)
|
rs763702839
|
0.00007
|
|
NM_004380.3(CREBBP):c.3370-17A>T
|
rs767500889
|
0.00007
|
|
NM_004560.4(ROR2):c.2604C>T (p.Ser868=)
|
rs369150056
|
0.00007
|
|
NM_004560.4(ROR2):c.485A>G (p.His162Arg)
|
rs569718323
|
0.00007
|
|
NM_004817.4(TJP2):c.3407+3A>G
|
rs727505291
|
0.00007
|
|
NM_004944.4(DNASE1L3):c.231-9G>C
|
rs188393900
|
0.00007
|
|
NM_004984.4(KIF5A):c.820-9C>A
|
rs185306438
|
0.00007
|
|
NM_004998.4(MYO1E):c.2298C>T (p.Phe766=)
|
rs370612369
|
0.00007
|
|
NM_005105.5(RBM8A):c.128-9C>T
|
rs185927426
|
0.00007
|
|
NM_005477.3(HCN4):c.3351G>A (p.Pro1117=)
|
rs375138488
|
0.00007
|
|
NM_005506.4(SCARB2):c.117+19T>C
|
rs774812479
|
0.00007
|
|
NM_005566.4(LDHA):c.127-14T>C
|
rs764597107
|
0.00007
|
|
NM_006005.3(WFS1):c.342C>T (p.Ala114=)
|
rs201151892
|
0.00007
|
|
NM_006059.4(LAMC3):c.1103A>G (p.Gln368Arg)
|
rs200609384
|
0.00007
|
|
NM_006306.4(SMC1A):c.1911+12C>G
|
rs200324148
|
0.00007
|
|
NM_006306.4(SMC1A):c.2562+17T>G
|
rs782781158
|
0.00007
|
|
NM_006306.4(SMC1A):c.3438-18C>T
|
rs781873202
|
0.00007
|
|
NM_006662.3(SRCAP):c.4872A>G (p.Ser1624=)
|
rs377094082
|
0.00007
|
|
NM_007294.4(BRCA1):c.5332+13G>T
|
rs372391060
|
0.00007
|
|
NM_012203.2(GRHPR):c.180C>T (p.Ser60=)
|
rs139689525
|
0.00007
|
|
NM_012330.4(KAT6B):c.3477C>G (p.Pro1159=)
|
rs145574734
|
0.00007
|
|
NM_012330.4(KAT6B):c.4077G>A (p.Glu1359=)
|
rs560274634
|
0.00007
|
|
NM_012330.4(KAT6B):c.4478C>T (p.Ala1493Val)
|
rs369068910
|
0.00007
|
|
NM_014491.4(FOXP2):c.1494T>C (p.Tyr498=)
|
rs191237950
|
0.00007
|
|
NM_014956.5(CEP164):c.2914-20A>G
|
rs201736952
|
0.00007
|
|
NM_014956.5(CEP164):c.3217-8G>A
|
rs374823549
|
0.00007
|
|
NM_015046.7(SETX):c.5536C>T (p.Arg1846Cys)
|
rs551406712
|
0.00007
|
|
NM_015102.5(NPHP4):c.280-6C>G
|
rs532995236
|
0.00007
|
|
NM_015102.5(NPHP4):c.675C>T (p.Gly225=)
|
rs200203766
|
0.00007
|
|
NM_015158.5(KANK1):c.2202G>T (p.Arg734=)
|
rs201557720
|
0.00007
|
|
NM_015346.4(ZFYVE26):c.991A>G (p.Asn331Asp)
|
rs199630965
|
0.00007
|
|
NM_015662.3(IFT172):c.3711+17A>G
|
rs376488082
|
0.00007
|
|
NM_015910.7(WDPCP):c.2178C>T (p.Asp726=)
|
rs367690400
|
0.00007
|
|
NM_017565.4(FAM20A):c.321G>C (p.Pro107=)
|
rs568029338
|
0.00007
|
|
NM_017617.5(NOTCH1):c.2207+15C>T
|
rs187086513
|
0.00007
|
|
NM_017617.5(NOTCH1):c.4101G>A (p.Pro1367=)
|
rs374921637
|
0.00007
|
|
NM_017662.5(TRPM6):c.3501T>C (p.Cys1167=)
|
rs966765338
|
0.00007
|
|
NM_017662.5(TRPM6):c.705C>T (p.Leu235=)
|
rs373729845
|
0.00007
|
|
NM_017780.4(CHD7):c.4659T>A (p.Ile1553=)
|
rs748644473
|
0.00007
|
|
NM_017780.4(CHD7):c.729C>T (p.Pro243=)
|
rs371398600
|
0.00007
|
|
NM_018368.4(LMBRD1):c.636+14G>T
|
rs376670737
|
0.00007
|
|
NM_018979.4(WNK1):c.6603T>C (p.Asp2201=)
|
rs770912702
|
0.00007
|
|
NM_018993.4(RIN2):c.2436C>T (p.Tyr812=)
|
rs540923982
|
0.00007
|
|
NM_020297.4(ABCC9):c.142+10C>A
|
rs138917284
|
0.00007
|
|
NM_020347.4(LZTFL1):c.881+18C>T
|
rs535240697
|
0.00007
|
|
NM_020347.4(LZTFL1):c.881+19G>A
|
rs773028690
|
0.00007
|
|
NM_020436.5(SALL4):c.696C>T (p.Thr232=)
|
rs376488018
|
0.00007
|
|
NM_020937.4(FANCM):c.93A>G (p.Arg31=)
|
rs112641528
|
0.00007
|
|
NM_020975.6(RET):c.1182C>T (p.Asn394=)
|
rs376465385
|
0.00007
|
|
NM_020975.6(RET):c.1371A>T (p.Ser457=)
|
rs376464605
|
0.00007
|
|
NM_020975.6(RET):c.81G>A (p.Leu27=)
|
rs369519655
|
0.00007
|
|
NM_021098.3(CACNA1H):c.1788C>T (p.Ala596=)
|
rs147877708
|
0.00007
|
|
NM_021098.3(CACNA1H):c.1828A>G (p.Thr610Ala)
|
rs201449513
|
0.00007
|
|
NM_021098.3(CACNA1H):c.273C>T (p.Ser91=)
|
rs1043511168
|
0.00007
|
|
NM_021098.3(CACNA1H):c.2907+8C>G
|
rs374392186
|
0.00007
|
|
NM_021098.3(CACNA1H):c.3114C>T (p.Phe1038=)
|
rs374946880
|
0.00007
|
|
NM_021098.3(CACNA1H):c.5313C>T (p.Phe1771=)
|
rs372640825
|
0.00007
|
|
NM_021098.3(CACNA1H):c.6781C>T (p.Leu2261=)
|
rs774253114
|
0.00007
|
|
NM_022124.6(CDH23):c.5131G>A (p.Val1711Ile)
|
rs181611778
|
0.00007
|
|
NM_022455.5(NSD1):c.1095C>T (p.Tyr365=)
|
rs200080728
|
0.00007
|
|
NM_022455.5(NSD1):c.3089T>C (p.Leu1030Ser)
|
rs200856103
|
0.00007
|
|
NM_022455.5(NSD1):c.3090G>T (p.Leu1030Phe)
|
rs201860097
|
0.00007
|
|
NM_022489.4(INF2):c.1377G>A (p.Pro459=)
|
rs776870726
|
0.00007
|
|
NM_023110.3(FGFR1):c.359-13C>G
|
rs376369060
|
0.00007
|
|
NM_024408.4(NOTCH2):c.3912C>T (p.Phe1304=)
|
rs764301517
|
0.00007
|
|
NM_024537.4(CARS2):c.1503G>A (p.Ala501=)
|
rs753425826
|
0.00007
|
|
NM_024675.4(PALB2):c.2032C>T (p.Leu678=)
|
rs376189676
|
0.00007
|
|
NM_024753.5(TTC21B):c.2568+17G>T
|
rs370340216
|
0.00007
|
|
NM_024753.5(TTC21B):c.3819A>G (p.Ala1273=)
|
rs373891320
|
0.00007
|
|
NM_025074.7(FRAS1):c.8064C>T (p.Ser2688=)
|
rs371145937
|
0.00007
|
|
NM_025132.4(WDR19):c.3261+20C>T
|
rs547317070
|
0.00007
|
|
NM_025132.4(WDR19):c.3358+14A>G
|
rs372822923
|
0.00007
|
|
NM_030943.4(AMN):c.841C>T (p.Leu281=)
|
rs569327877
|
0.00007
|
|
NM_031206.7(LAS1L):c.1341A>G (p.Ala447=)
|
rs766767923
|
0.00007
|
|
NM_032444.4(SLX4):c.1706C>T (p.Pro569Leu)
|
rs534528576
|
0.00007
|
|
NM_032444.4(SLX4):c.2034T>G (p.Val678=)
|
rs200278096
|
0.00007
|
|
NM_032444.4(SLX4):c.4344C>T (p.Pro1448=)
|
rs368388100
|
0.00007
|
|
NM_033380.3(COL4A5):c.1497A>G (p.Pro499=)
|
rs772348542
|
0.00007
|
|
NM_033380.3(COL4A5):c.3247-10G>A
|
rs369817184
|
0.00007
|
|
NM_033380.3(COL4A5):c.646-6C>T
|
rs200151467
|
0.00007
|
|
NM_052989.3(IFT122):c.1489-16G>A
|
rs576753615
|
0.00007
|
|
NM_052989.3(IFT122):c.2375+13C>T
|
rs749785449
|
0.00007
|
|
NM_053025.4(MYLK):c.2070G>A (p.Thr690=)
|
rs141049942
|
0.00007
|
|
NM_057176.3(BSND):c.225A>G (p.Pro75=)
|
rs755110588
|
0.00007
|
|
NM_138694.4(PKHD1):c.3525C>T (p.Ser1175=)
|
rs751244001
|
0.00007
|
|
NM_138694.4(PKHD1):c.5989C>A (p.Arg1997=)
|
rs369801937
|
0.00007
|
|
NM_139319.3(SLC17A8):c.232A>G (p.Ile78Val)
|
rs141811441
|
0.00007
|
|
NM_144997.7(FLCN):c.867C>T (p.Leu289=)
|
rs367562964
|
0.00007
|
|
NM_152703.5(SAMD9L):c.1015C>A (p.Leu339Ile)
|
rs138238924
|
0.00007
|
|
NM_170707.4(LMNA):c.1488+7G>A
|
rs374209100
|
0.00007
|
|
NM_174936.4(PCSK9):c.1173C>T (p.His391=)
|
rs149097297
|
0.00007
|
|
NM_175875.5(SIX5):c.603C>T (p.Gly201=)
|
rs202164217
|
0.00007
|
|
NM_198252.3(GSN):c.-9-1951G>T
|
rs772288409
|
0.00007
|
|
NM_198252.3(GSN):c.1485C>T (p.Ile495=)
|
rs374982895
|
0.00007
|
|
NM_207361.6(FREM2):c.7359G>A (p.Val2453=)
|
rs115054860
|
0.00007
|
|
NM_212482.4(FN1):c.1413A>C (p.Thr471=)
|
rs1009644782
|
0.00007
|
|
NM_000029.4(AGT):c.1395T>C (p.Tyr465=)
|
rs371051808
|
0.00006
|
|
NM_000030.3(AGXT):c.1002C>T (p.Asp334=)
|
rs370897272
|
0.00006
|
|
NM_000030.3(AGXT):c.888G>A (p.Ala296=)
|
rs979513298
|
0.00006
|
|
NM_000053.4(ATP7B):c.1285+8G>A
|
rs377584333
|
0.00006
|
|
NM_000064.4(C3):c.2441-7C>T
|
rs372528487
|
0.00006
|
|
NM_000064.4(C3):c.3018C>T (p.Thr1006=)
|
rs141373588
|
0.00006
|
|
NM_000064.4(C3):c.3858C>T (p.Ala1286=)
|
rs751808949
|
0.00006
|
|
NM_000067.3(CA2):c.444+18T>G
|
rs544980486
|
0.00006
|
|
NM_000069.3(CACNA1S):c.2376T>C (p.Cys792=)
|
rs528604695
|
0.00006
|
|
NM_000069.3(CACNA1S):c.2491-20C>T
|
rs200340608
|
0.00006
|
|
NM_000069.3(CACNA1S):c.3210G>A (p.Glu1070=)
|
rs200893062
|
0.00006
|
|
NM_000069.3(CACNA1S):c.3606C>T (p.Ile1202=)
|
rs189797100
|
0.00006
|
|
NM_000069.3(CACNA1S):c.3796-13G>A
|
rs374572342
|
0.00006
|
|
NM_000069.3(CACNA1S):c.4669-11G>A
|
rs376672151
|
0.00006
|
|
NM_000088.4(COL1A1):c.1887C>T (p.Gly629=)
|
rs375695940
|
0.00006
|
|
NM_000088.4(COL1A1):c.2166C>T (p.Gly722=)
|
rs200188855
|
0.00006
|
|
NM_000088.4(COL1A1):c.589-20T>C
|
rs370564344
|
0.00006
|
|
NM_000092.5(COL4A4):c.1962C>T (p.Gly654=)
|
rs376448360
|
0.00006
|
|
NM_000092.5(COL4A4):c.543C>T (p.Ala181=)
|
rs777358824
|
0.00006
|
|
NM_000093.5(COL5A1):c.3906+14C>T
|
rs377136680
|
0.00006
|
|
NM_000135.4(FANCA):c.1734C>T (p.Tyr578=)
|
rs762647468
|
0.00006
|
|
NM_000135.4(FANCA):c.1901-10C>T
|
rs766654290
|
0.00006
|
|
NM_000135.4(FANCA):c.2292G>A (p.Arg764=)
|
rs56267906
|
0.00006
|
|
NM_000135.4(FANCA):c.2778+12T>C
|
rs775047268
|
0.00006
|
|
NM_000135.4(FANCA):c.3408+16A>G
|
rs373636902
|
0.00006
|
|
NM_000141.5(FGFR2):c.420G>A (p.Ala140=)
|
rs765024365
|
0.00006
|
|
NM_000152.5(GAA):c.1754+17G>A
|
rs769797291
|
0.00006
|
|
NM_000166.6(GJB1):c.671G>A (p.Arg224His)
|
rs201697702
|
0.00006
|
|
NM_000168.6(GLI3):c.1800G>A (p.Thr600=)
|
rs138445547
|
0.00006
|
|
NM_000168.6(GLI3):c.240C>T (p.Asp80=)
|
rs149400571
|
0.00006
|
|
NM_000168.6(GLI3):c.4089C>T (p.Cys1363=)
|
rs202059951
|
0.00006
|
|
NM_000186.4(CFH):c.2056+16T>C
|
rs777352172
|
0.00006
|
|
NM_000186.4(CFH):c.245-17T>A
|
rs775088366
|
0.00006
|
|
NM_000187.4(HGD):c.786G>A (p.Pro262=)
|
rs747648606
|
0.00006
|
|
NM_000202.8(IDS):c.753C>T (p.Pro251=)
|
rs782051908
|
0.00006
|
|
NM_000204.5(CFI):c.482+7G>A
|
rs765922749
|
0.00006
|
|
NM_000210.4(ITGA6):c.729T>C (p.Thr243=)
|
rs369279630
|
0.00006
|
|
NM_000213.5(ITGB4):c.4857A>G (p.Glu1619=)
|
rs369462022
|
0.00006
|
|
NM_000214.3(JAG1):c.1383C>T (p.Asp461=)
|
rs140604589
|
0.00006
|
|
NM_000214.3(JAG1):c.1655C>T (p.Pro552Leu)
|
rs201785359
|
0.00006
|
|
NM_000214.3(JAG1):c.1720+16C>T
|
rs374498402
|
0.00006
|
|
NM_000243.3(MEFV):c.1610+8G>A
|
rs765410591
|
0.00006
|
|
NM_000255.4(MMUT):c.1956+17G>C
|
rs199735681
|
0.00006
|
|
NM_000255.4(MMUT):c.912-13G>A
|
rs542038574
|
0.00006
|
|
NM_000256.3(MYBPC3):c.773-18T>C
|
rs755484970
|
0.00006
|
|
NM_000257.4(MYH7):c.1322C>T (p.Thr441Met)
|
rs121913653
|
0.00006
|
|
NM_000276.4(OCRL):c.284G>A (p.Arg95His)
|
rs770375201
|
0.00006
|
|
NM_000278.5(PAX2):c.528C>T (p.Ser176=)
|
rs369240774
|
0.00006
|
|
NM_000301.5(PLG):c.1722G>A (p.Pro574=)
|
rs146030266
|
0.00006
|
|
NM_000303.3(PMM2):c.435C>T (p.Tyr145=)
|
rs550231531
|
0.00006
|
|
NM_000316.3(PTH1R):c.1254C>T (p.Gly418=)
|
rs750736467
|
0.00006
|
|
NM_000334.4(SCN4A):c.2448T>C (p.Asp816=)
|
rs150307926
|
0.00006
|
|
NM_000338.3(SLC12A1):c.1216-13T>A
|
rs200223149
|
0.00006
|
|
NM_000342.4(SLC4A1):c.102G>A (p.Pro34=)
|
rs55898602
|
0.00006
|
|
NM_000345.4(SNCA):c.391-16A>G
|
rs371014092
|
0.00006
|
|
NM_000349.3(STAR):c.738C>T (p.Asp246=)
|
rs758031518
|
0.00006
|
|
NM_000368.5(TSC1):c.1178C>T (p.Thr393Ile)
|
rs201452238
|
0.00006
|
|
NM_000372.5(TYR):c.48C>T (p.Ser16=)
|
rs148710429
|
0.00006
|
|
NM_000377.3(WAS):c.273+14C>T
|
rs782249573
|
0.00006
|
|
NM_000384.3(APOB):c.3508+14C>T
|
rs371596170
|
0.00006
|
|
NM_000388.4(CASR):c.1554A>G (p.Gly518=)
|
rs138099808
|
0.00006
|
|
NM_000400.4(ERCC2):c.1584C>A (p.Ser528=)
|
rs199551160
|
0.00006
|
|
NM_000426.4(LAMA2):c.5072-9C>A
|
rs770904109
|
0.00006
|
|
NM_000478.6(ALPL):c.1056G>A (p.Ala352=)
|
rs774824768
|
0.00006
|
|
NM_000478.6(ALPL):c.1446C>T (p.His482=)
|
rs747980975
|
0.00006
|
|
NM_000503.6(EYA1):c.399G>A (p.Pro133=)
|
rs146356299
|
0.00006
|
|
NM_000503.6(EYA1):c.639+17G>C
|
rs199791692
|
0.00006
|
|
NM_000514.4(GDNF):c.447C>T (p.Cys149=)
|
rs368244196
|
0.00006
|
|
NM_000516.7(GNAS):c.357G>A (p.Leu119=)
|
rs368741499
|
0.00006
|
|
NM_000540.3(RYR1):c.10803C>T (p.Ala3601=)
|
rs141542477
|
0.00006
|
|
NM_000540.3(RYR1):c.1479A>C (p.Leu493=)
|
rs748552245
|
0.00006
|
|
NM_000540.3(RYR1):c.7092C>T (p.Phe2364=)
|
rs369456396
|
0.00006
|
|
NM_000540.3(RYR1):c.7560C>T (p.His2520=)
|
rs749322590
|
0.00006
|
|
NM_000545.8(HNF1A):c.1071G>A (p.Glu357=)
|
rs376279459
|
0.00006
|
|
NM_000548.5(TSC2):c.1717-15G>T
|
rs372949465
|
0.00006
|
|
NM_000548.5(TSC2):c.1731C>T (p.Thr577=)
|
rs144122318
|
0.00006
|
|
NM_000548.5(TSC2):c.1946+15G>A
|
rs752601710
|
0.00006
|
|
NM_000548.5(TSC2):c.2546-6C>T
|
rs372088609
|
0.00006
|
|
NM_000548.5(TSC2):c.3762G>A (p.Ser1254=)
|
rs144891432
|
0.00006
|
|
NM_000548.5(TSC2):c.482-16G>A
|
rs200647260
|
0.00006
|
|
NM_000548.5(TSC2):c.600-15C>T
|
rs369708731
|
0.00006
|
|
NM_000548.5(TSC2):c.814G>A (p.Ala272Thr)
|
rs373818076
|
0.00006
|
|
NM_000719.7(CACNA1C):c.6339C>T (p.Asp2113=)
|
rs374843203
|
0.00006
|
|
NM_000781.3(CYP11A1):c.366C>T (p.Leu122=)
|
rs530494910
|
0.00006
|
|
NM_000782.5(CYP24A1):c.1083T>C (p.Pro361=)
|
rs147886742
|
0.00006
|
|
NM_000785.4(CYP27B1):c.54G>A (p.Ala18=)
|
rs537715358
|
0.00006
|
|
NM_000944.5(PPP3CA):c.497-20C>G
|
rs540323683
|
0.00006
|
|
NM_000996.4(RPL35A):c.21C>T (p.Ser7=)
|
rs145660527
|
0.00006
|
|
NM_001003841.3(SLC6A19):c.1302G>A (p.Gly434=)
|
rs544896068
|
0.00006
|
|
NM_001009944.3(PKD1):c.8780C>T (p.Thr2927Met)
|
rs544100161
|
0.00006
|
|
NM_001009944.3(PKD1):c.910C>T (p.Arg304Cys)
|
rs543328728
|
0.00006
|
|
NM_001011.4(RPS7):c.75+13C>T
|
rs751796318
|
0.00006
|
|
NM_001018005.2(TPM1):c.115-335G>T
|
rs587780971
|
0.00006
|
|
NM_001018115.3(FANCD2):c.889-9T>A
|
rs767122938
|
0.00006
|
|
NM_001022.4(RPS19):c.183G>A (p.Ala61=)
|
rs782727047
|
0.00006
|
|
NM_001022.4(RPS19):c.411+19G>T
|
rs782394063
|
0.00006
|
|
NM_001023570.4(IQCB1):c.1446C>A (p.Leu482=)
|
rs146776796
|
0.00006
|
|
NM_001023570.4(IQCB1):c.1509C>G (p.Ala503=)
|
rs149259534
|
0.00006
|
|
NM_001041.4(SI):c.5198-7T>C
|
rs200924086
|
0.00006
|
|
NM_001042413.2(GLIS3):c.1395T>C (p.His465=)
|
rs752606768
|
0.00006
|
|
NM_001081.4(CUBN):c.5210-7C>G
|
rs760324864
|
0.00006
|
|
NM_001099922.3(ALG13):c.2369-19T>C
|
rs376719251
|
0.00006
|
|
NM_001099922.3(ALG13):c.42C>A (p.Asp14Glu)
|
rs200293248
|
0.00006
|
|
NM_001105206.3(LAMA4):c.1551+8G>A
|
rs782128294
|
0.00006
|
|
NM_001105206.3(LAMA4):c.672C>T (p.Cys224=)
|
rs781903380
|
0.00006
|
|
NM_001113378.2(FANCI):c.1797T>C (p.Ala599=)
|
rs563218968
|
0.00006
|
|
NM_001113378.2(FANCI):c.2890-19G>A
|
rs758850736
|
0.00006
|
|
NM_001128178.3(NPHP1):c.69+20A>G
|
rs199941495
|
0.00006
|
|
NM_001128225.3(SLC39A13):c.1038G>A (p.Pro346=)
|
rs772924353
|
0.00006
|
|
NM_001134363.3(RBM20):c.774G>A (p.Ser258=)
|
rs569846404
|
0.00006
|
|
NM_001134831.2(AHI1):c.1494A>G (p.Leu498=)
|
rs185249049
|
0.00006
|
|
NM_001136193.2(FASTKD2):c.1115-10A>G
|
rs747618392
|
0.00006
|
|
NM_001144967.3(NEDD4L):c.2040C>T (p.Tyr680=)
|
rs373128169
|
0.00006
|
|
NM_001144967.3(NEDD4L):c.243+12A>G
|
rs780590670
|
0.00006
|
|
NM_001144967.3(NEDD4L):c.49-11C>T
|
rs199921263
|
0.00006
|
|
NM_001148.6(ANK2):c.1135C>T (p.Arg379Cys)
|
rs143043717
|
0.00006
|
|
NM_001148.6(ANK2):c.8124A>G (p.Val2708=)
|
rs776586126
|
0.00006
|
|
NM_001164277.2(SLC37A4):c.972T>C (p.Ser324=)
|
rs781824710
|
0.00006
|
|
NM_001171.6(ABCC6):c.1338+16A>C
|
rs764198351
|
0.00006
|
|
NM_001171.6(ABCC6):c.1569C>A (p.Gly523=)
|
rs145764775
|
0.00006
|
|
NM_001171.6(ABCC6):c.4332C>T (p.Leu1444=)
|
rs559653607
|
0.00006
|
|
NM_001171.6(ABCC6):c.4404-5C>A
|
rs58190361
|
0.00006
|
|
NM_001172509.2(SATB2):c.787T>C (p.Ser263Pro)
|
rs12619995
|
0.00006
|
|
NM_001174147.2(LMX1B):c.139+19C>T
|
rs371424668
|
0.00006
|
|
NM_001174147.2(LMX1B):c.648G>A (p.Pro216=)
|
rs550024836
|
0.00006
|
|
NM_001195305.3(BBIP1):c.168A>G (p.Leu56=)
|
rs990110859
|
0.00006
|
|
NM_001197104.2(KMT2A):c.9342A>C (p.Thr3114=)
|
rs782427944
|
0.00006
|
|
NM_001205293.3(CACNA1E):c.6347G>A (p.Arg2116His)
|
rs372520364
|
0.00006
|
|
NM_001243133.2(NLRP3):c.2150+16T>C
|
rs368389907
|
0.00006
|
|
NM_001243133.2(NLRP3):c.2709C>G (p.Ser903=)
|
rs145787821
|
0.00006
|
|
NM_001244008.2(KIF1A):c.1208-14C>T
|
rs754002758
|
0.00006
|
|
NM_001267550.2(TTN):c.107364C>T (p.Ser35788=)
|
rs1057521273
|
0.00006
|
|
NM_001267550.2(TTN):c.22666C>T (p.Arg7556Cys)
|
rs754885396
|
0.00006
|
|
NM_001267550.2(TTN):c.27050-6G>A
|
rs765624428
|
0.00006
|
|
NM_001267550.2(TTN):c.60198G>A (p.Pro20066=)
|
rs767152563
|
0.00006
|
|
NM_001267550.2(TTN):c.70380G>A (p.Leu23460=)
|
rs185660043
|
0.00006
|
|
NM_001276345.2(TNNT2):c.295-14C>T
|
rs747477576
|
0.00006
|
|
NM_001289104.2(PRKCSH):c.1590C>T (p.Asp530=)
|
rs147203239
|
0.00006
|
|
NM_001289104.2(PRKCSH):c.683+9C>A
|
rs367735502
|
0.00006
|
|
NM_001363711.2(DUOX2):c.1428C>A (p.Asn476Lys)
|
rs199918362
|
0.00006
|
|
NM_001365536.1(SCN9A):c.561G>A (p.Pro187=)
|
rs200182914
|
0.00006
|
|
NM_001366722.1(GRIP1):c.1791A>G (p.Gly597=)
|
rs768730046
|
0.00006
|
|
NM_001369268.1(ACAN):c.7451C>T (p.Ala2484Val)
|
rs543497679
|
0.00006
|
|
NM_001370595.2(COA8):c.123+6C>T
|
rs2274266
|
0.00006
|
|
NM_001372066.1(TFAP2A):c.51+20G>T
|
rs369679945
|
0.00006
|
|
NM_001372066.1(TFAP2A):c.714G>A (p.Arg238=)
|
rs761298686
|
0.00006
|
|
NM_001374828.1(ARID1B):c.4674G>A (p.Pro1558=)
|
rs566865279
|
0.00006
|
|
NM_001377.3(DYNC2H1):c.4762+20T>C
|
rs750684131
|
0.00006
|
|
NM_001378454.1(ALMS1):c.10494T>C (p.His3498=)
|
rs769856570
|
0.00006
|
|
NM_001378454.1(ALMS1):c.12036C>T (p.Asp4012=)
|
rs370981817
|
0.00006
|
|
NM_001378454.1(ALMS1):c.12222C>T (p.Thr4074=)
|
rs199638718
|
0.00006
|
|
NM_001378454.1(ALMS1):c.1470A>G (p.Gln490=)
|
rs769982352
|
0.00006
|
|
NM_001378454.1(ALMS1):c.3096C>A (p.Gly1032=)
|
rs368659119
|
0.00006
|
|
NM_001378454.1(ALMS1):c.7764G>A (p.Arg2588=)
|
rs565248215
|
0.00006
|
|
NM_001379081.2(FREM1):c.4983T>A (p.Pro1661=)
|
rs111333359
|
0.00006
|
|
NM_001379500.1(COL18A1):c.3336C>T (p.Thr1112=)
|
rs781100621
|
0.00006
|
|
NM_001384732.1(CPLANE1):c.3474A>G (p.Pro1158=)
|
rs148286269
|
0.00006
|
|
NM_001384732.1(CPLANE1):c.7296A>G (p.Lys2432=)
|
rs374320265
|
0.00006
|
|
NM_001384732.1(CPLANE1):c.938+20T>C
|
rs1391242118
|
0.00006
|
|
NM_001384732.1(CPLANE1):c.93C>T (p.Ala31=)
|
rs200942752
|
0.00006
|
|
NM_001395656.1(ROBO2):c.1169C>T (p.Ala390Val)
|
rs199705591
|
0.00006
|
|
NM_001453.3(FOXC1):c.351C>T (p.Asp117=)
|
rs1391853754
|
0.00006
|
|
NM_001458.5(FLNC):c.651C>T (p.Asn217=)
|
rs370425863
|
0.00006
|
|
NM_001692.4(ATP6V1B1):c.585+7C>G
|
rs369075264
|
0.00006
|
|
NM_001715.3(BLK):c.675G>A (p.Pro225=)
|
rs761122806
|
0.00006
|
|
NM_001734.5(C1S):c.622T>C (p.Leu208=)
|
rs144205018
|
0.00006
|
|
NM_001735.3(C5):c.600G>A (p.Thr200=)
|
rs369786622
|
0.00006
|
|
NM_001753.5(CAV1):c.45C>G (p.Thr15=)
|
rs926719665
|
0.00006
|
|
NM_001807.6(CEL):c.670-4G>A
|
rs371303105
|
0.00006
|
|
NM_001844.5(COL2A1):c.2886C>T (p.Asp962=)
|
rs150951022
|
0.00006
|
|
NM_001845.6(COL4A1):c.1929T>C (p.Pro643=)
|
rs142883141
|
0.00006
|
|
NM_001845.6(COL4A1):c.324+20T>C
|
rs764072918
|
0.00006
|
|
NM_001845.6(COL4A1):c.3615C>G (p.Ser1205=)
|
rs145903540
|
0.00006
|
|
NM_001845.6(COL4A1):c.4608C>T (p.Ile1536=)
|
rs377100994
|
0.00006
|
|
NM_001846.4(COL4A2):c.3258G>A (p.Ala1086=)
|
rs267603756
|
0.00006
|
|
NM_001852.4(COL9A2):c.1871-8G>T
|
rs372902486
|
0.00006
|
|
NM_001853.4(COL9A3):c.1548+8G>A
|
rs376918493
|
0.00006
|
|
NM_001854.4(COL11A1):c.4032+16A>G
|
rs200202502
|
0.00006
|
|
NM_001903.5(CTNNA1):c.2714G>A (p.Ser905Asn)
|
rs756360361
|
0.00006
|
|
NM_001909.5(CTSD):c.153C>T (p.Pro51=)
|
rs560041488
|
0.00006
|
|
NM_001958.5(EEF1A2):c.1182G>T (p.Leu394=)
|
rs199643016
|
0.00006
|
|
NM_001963.6(EGF):c.1190-10T>C
|
rs373046487
|
0.00006
|
|
NM_002204.4(ITGA3):c.3046-5C>T
|
rs374371717
|
0.00006
|
|
NM_002241.5(KCNJ10):c.39T>A (p.Thr13=)
|
rs776805483
|
0.00006
|
|
NM_002292.4(LAMB2):c.1422A>C (p.Ala474=)
|
rs201408584
|
0.00006
|
|
NM_002292.4(LAMB2):c.1890+19A>C
|
rs763388406
|
0.00006
|
|
NM_002292.4(LAMB2):c.4071T>C (p.Pro1357=)
|
rs770830943
|
0.00006
|
|
NM_002334.4(LRP4):c.1048+20G>A
|
rs199512829
|
0.00006
|
|
NM_002334.4(LRP4):c.177C>T (p.Asp59=)
|
rs373625784
|
0.00006
|
|
NM_002334.4(LRP4):c.4812C>T (p.Ile1604=)
|
rs753496184
|
0.00006
|
|
NM_002335.4(LRP5):c.1077G>A (p.Thr359=)
|
rs200179967
|
0.00006
|
|
NM_002471.4(MYH6):c.4651-14C>A
|
rs902807471
|
0.00006
|
|
NM_002471.4(MYH6):c.800-5C>T
|
rs727505228
|
0.00006
|
|
NM_002473.6(MYH9):c.1788C>T (p.Ile596=)
|
rs113130911
|
0.00006
|
|
NM_002473.6(MYH9):c.4479G>A (p.Ala1493=)
|
rs149271663
|
0.00006
|
|
NM_002500.5(NEUROD1):c.1050C>G (p.Leu350=)
|
rs778703927
|
0.00006
|
|
NM_002661.5(PLCG2):c.114C>T (p.Pro38=)
|
rs750924322
|
0.00006
|
|
NM_002661.5(PLCG2):c.1558-8C>T
|
rs371117206
|
0.00006
|
|
NM_002661.5(PLCG2):c.1629C>T (p.Ala543=)
|
rs374641731
|
0.00006
|
|
NM_002661.5(PLCG2):c.1881C>T (p.Phe627=)
|
rs754739394
|
0.00006
|
|
NM_002661.5(PLCG2):c.1998C>T (p.Asp666=)
|
rs745784908
|
0.00006
|
|
NM_002661.5(PLCG2):c.2259C>T (p.Tyr753=)
|
rs370847174
|
0.00006
|
|
NM_002661.5(PLCG2):c.2331G>A (p.Leu777=)
|
rs372491825
|
0.00006
|
|
NM_002661.5(PLCG2):c.2577C>T (p.Asn859=)
|
rs747043855
|
0.00006
|
|
NM_002661.5(PLCG2):c.3336C>T (p.Ile1112=)
|
rs193128632
|
0.00006
|
|
NM_002834.5(PTPN11):c.392A>G (p.Lys131Arg)
|
rs397516805
|
0.00006
|
|
NM_002834.5(PTPN11):c.616T>C (p.Leu206=)
|
rs78376169
|
0.00006
|
|
NM_002968.3(SALL1):c.351C>T (p.Asn117=)
|
rs145806303
|
0.00006
|
|
NM_002968.3(SALL1):c.618G>A (p.Ala206=)
|
rs773443491
|
0.00006
|
|
NM_003052.5(SLC34A1):c.420C>T (p.Asn140=)
|
rs200188041
|
0.00006
|
|
NM_003611.3(OFD1):c.282C>T (p.Phe94=)
|
rs762169661
|
0.00006
|
|
NM_003611.3(OFD1):c.2992G>A (p.Glu998Lys)
|
rs772233258
|
0.00006
|
|
NM_003661.4(APOL1):c.315-7T>C
|
rs190240132
|
0.00006
|
|
NM_003722.5(TP63):c.1095G>A (p.Ser365=)
|
rs748609799
|
0.00006
|
|
NM_004006.3(DMD):c.6117+15C>T
|
rs754718247
|
0.00006
|
|
NM_004082.5(DCTN1):c.1470C>T (p.Asp490=)
|
rs199751168
|
0.00006
|
|
NM_004153.4(ORC1):c.1745A>G (p.Gln582Arg)
|
rs547441862
|
0.00006
|
|
NM_004260.4(RECQL4):c.1170T>C (p.Phe390=)
|
rs768991485
|
0.00006
|
|
NM_004281.4(BAG3):c.1362C>T (p.Ile454=)
|
rs372417286
|
0.00006
|
|
NM_004333.6(BRAF):c.504+19C>T
|
rs780617193
|
0.00006
|
|
NM_004360.5(CDH1):c.48+15_48+16del
|
rs730881655
|
0.00006
|
|
NM_004380.3(CREBBP):c.435C>T (p.Pro145=)
|
rs201435679
|
0.00006
|
|
NM_004380.3(CREBBP):c.4956C>T (p.Pro1652=)
|
rs139365408
|
0.00006
|
|
NM_004387.4(NKX2-5):c.492G>C (p.Ser164=)
|
rs754229011
|
0.00006
|
|
NM_004387.4(NKX2-5):c.609G>A (p.Glu203=)
|
rs376792087
|
0.00006
|
|
NM_004415.4(DSP):c.1155G>A (p.Ala385=)
|
rs140488069
|
0.00006
|
|
NM_004415.4(DSP):c.4914C>T (p.Asp1638=)
|
rs750113099
|
0.00006
|
|
NM_004525.3(LRP2):c.10314A>G (p.Gly3438=)
|
rs368626587
|
0.00006
|
|
NM_004525.3(LRP2):c.13728+12C>T
|
rs368463648
|
0.00006
|
|
NM_004525.3(LRP2):c.2886G>C (p.Ser962=)
|
rs138299719
|
0.00006
|
|
NM_004525.3(LRP2):c.3123T>C (p.Asn1041=)
|
rs1028631475
|
0.00006
|
|
NM_004525.3(LRP2):c.4524C>T (p.Ile1508=)
|
rs376111498
|
0.00006
|
|
NM_004560.4(ROR2):c.1863G>A (p.Val621=)
|
rs778321761
|
0.00006
|
|
NM_004646.4(NPHS1):c.1316-6C>T
|
rs756437220
|
0.00006
|
|
NM_004646.4(NPHS1):c.3114C>T (p.Leu1038=)
|
rs373756773
|
0.00006
|
|
NM_004646.4(NPHS1):c.3594+13G>T
|
rs756165265
|
0.00006
|
|
NM_004736.4(XPR1):c.1887C>A (p.Ile629=)
|
rs761801981
|
0.00006
|
|
NM_004836.7(EIF2AK3):c.236C>T (p.Pro79Leu)
|
rs539891019
|
0.00006
|
|
NM_004924.6(ACTN4):c.2191-4G>A
|
rs371779934
|
0.00006
|
|
NM_004937.3(CTNS):c.368T>G (p.Ile123Ser)
|
rs200313254
|
0.00006
|
|
NM_004944.4(DNASE1L3):c.801+17G>C
|
rs373633551
|
0.00006
|
|
NM_004958.4(MTOR):c.6810+12G>A
|
rs373052413
|
0.00006
|
|
NM_005012.4(ROR1):c.1356G>C (p.Glu452Asp)
|
rs777805288
|
0.00006
|
|
NM_005159.5(ACTC1):c.129+18C>A
|
rs368977747
|
0.00006
|
|
NM_005251.3(FOXC2):c.605A>C (p.Asp202Ala)
|
rs201456476
|
0.00006
|
|
NM_005739.4(RASGRP1):c.876T>C (p.Asn292=)
|
rs55728637
|
0.00006
|
|
NM_005751.5(AKAP9):c.261A>G (p.Leu87=)
|
rs150736347
|
0.00006
|
|
NM_005751.5(AKAP9):c.6681A>G (p.Gln2227=)
|
rs745898364
|
0.00006
|
|
NM_006005.3(WFS1):c.1791C>T (p.Ile597=)
|
rs141883293
|
0.00006
|
|
NM_006005.3(WFS1):c.315+17C>T
|
rs766977344
|
0.00006
|
|
NM_006005.3(WFS1):c.514C>T (p.Leu172=)
|
rs371632935
|
0.00006
|
|
NM_006005.3(WFS1):c.642G>A (p.Ala214=)
|
rs761245713
|
0.00006
|
|
NM_006059.4(LAMC3):c.3486C>T (p.Leu1162=)
|
rs368499727
|
0.00006
|
|
NM_006073.4(TRDN):c.1975+8C>T
|
rs754046696
|
0.00006
|
|
NM_006208.3(ENPP1):c.2445-5T>C
|
rs369942606
|
0.00006
|
|
NM_006269.2(RP1):c.4665A>G (p.Gly1555=)
|
rs929619376
|
0.00006
|
|
NM_006306.4(SMC1A):c.372G>C (p.Leu124Phe)
|
rs148835205
|
0.00006
|
|
NM_006642.5(SDCCAG8):c.1935G>A (p.Leu645=)
|
rs185944691
|
0.00006
|
|
NM_006642.5(SDCCAG8):c.220+20C>T
|
rs200013862
|
0.00006
|
|
NM_006662.3(SRCAP):c.1614C>T (p.Ser538=)
|
rs374756213
|
0.00006
|
|
NM_006662.3(SRCAP):c.3292C>T (p.Arg1098Trp)
|
rs556230791
|
0.00006
|
|
NM_006662.3(SRCAP):c.5322G>A (p.Ser1774=)
|
rs773168431
|
0.00006
|
|
NM_006662.3(SRCAP):c.5658+15C>T
|
rs775744605
|
0.00006
|
|
NM_006662.3(SRCAP):c.8508T>G (p.Thr2836=)
|
rs758398423
|
0.00006
|
|
NM_007078.3(LDB3):c.1231+19G>A
|
rs763969244
|
0.00006
|
|
NM_012120.3(CD2AP):c.1633-8G>A
|
rs371517849
|
0.00006
|
|
NM_012330.4(KAT6B):c.519G>A (p.Arg173=)
|
rs374557982
|
0.00006
|
|
NM_012330.4(KAT6B):c.846+16G>A
|
rs374506959
|
0.00006
|
|
NM_012431.3(SEMA3E):c.1366+10C>T
|
rs144608744
|
0.00006
|
|
NM_012431.3(SEMA3E):c.999-16T>C
|
rs376833826
|
0.00006
|
|
NM_013335.4(GMPPA):c.300C>T (p.Asp100=)
|
rs779526489
|
0.00006
|
|
NM_013339.4(ALG6):c.1128-13T>A
|
rs773823994
|
0.00006
|
|
NM_014009.4(FOXP3):c.1241G>A (p.Arg414His)
|
rs782786757
|
0.00006
|
|
NM_014140.4(SMARCAL1):c.1299G>A (p.Val433=)
|
rs773940970
|
0.00006
|
|
NM_014140.4(SMARCAL1):c.2073A>G (p.Lys691=)
|
rs112200018
|
0.00006
|
|
NM_014140.4(SMARCAL1):c.2625+18C>T
|
rs370523069
|
0.00006
|
|
NM_014317.5(PDSS1):c.1032A>G (p.Pro344=)
|
rs200147190
|
0.00006
|
|
NM_014625.4(NPHS2):c.723C>T (p.Ile241=)
|
rs778145792
|
0.00006
|
|
NM_014625.4(NPHS2):c.885A>G (p.Ala295=)
|
rs146940071
|
0.00006
|
|
NM_014714.4(IFT140):c.1401C>T (p.Phe467=)
|
rs368477699
|
0.00006
|
|
NM_014714.4(IFT140):c.903-17G>T
|
rs377542255
|
0.00006
|
|
NM_014908.4(DOLK):c.52G>A (p.Gly18Arg)
|
rs777998210
|
0.00006
|
|
NM_014956.5(CEP164):c.1399C>T (p.Leu467=)
|
rs528252533
|
0.00006
|
|
NM_014956.5(CEP164):c.2067-15A>G
|
rs767292266
|
0.00006
|
|
NM_014967.5(FAN1):c.2433G>C (p.Leu811=)
|
rs141812435
|
0.00006
|
|
NM_014967.5(FAN1):c.2805G>C (p.Leu935=)
|
rs200468714
|
0.00006
|
|
NM_015102.5(NPHP4):c.1500A>G (p.Pro500=)
|
rs753250092
|
0.00006
|
|
NM_015141.3(GPD1L):c.367-10A>T
|
rs113764055
|
0.00006
|
|
NM_015272.5(RPGRIP1L):c.1260C>T (p.Leu420=)
|
rs760245904
|
0.00006
|
|
NM_015443.4(KANSL1):c.1527T>G (p.Asp509Glu)
|
rs527948436
|
0.00006
|
|
NM_015443.4(KANSL1):c.2230G>C (p.Asp744His)
|
rs200103894
|
0.00006
|
|
NM_015443.4(KANSL1):c.3053C>T (p.Thr1018Ile)
|
rs145863194
|
0.00006
|
|
NM_015443.4(KANSL1):c.3306G>A (p.Pro1102=)
|
rs143746890
|
0.00006
|
|
NM_015443.4(KANSL1):c.729A>G (p.Gln243=)
|
rs775976415
|
0.00006
|
|
NM_015512.5(DNAH1):c.10765G>A (p.Asp3589Asn)
|
rs200850423
|
0.00006
|
|
NM_015570.4(AUTS2):c.979C>T (p.Arg327Cys)
|
rs141599415
|
0.00006
|
|
NM_015627.3(LDLRAP1):c.114G>C (p.Thr38=)
|
rs138908999
|
0.00006
|
|
NM_015662.3(IFT172):c.1006-10C>T
|
rs545781319
|
0.00006
|
|
NM_015662.3(IFT172):c.915A>G (p.Thr305=)
|
rs180855666
|
0.00006
|
|
NM_016360.4(TACO1):c.327A>G (p.Leu109=)
|
rs149794197
|
0.00006
|
|
NM_016360.4(TACO1):c.819G>A (p.Leu273=)
|
rs776813717
|
0.00006
|
|
NM_017565.4(FAM20A):c.342C>T (p.Asp114=)
|
rs778101746
|
0.00006
|
|
NM_017662.5(TRPM6):c.5685C>A (p.Thr1895=)
|
rs757763880
|
0.00006
|
|
NM_017780.4(CHD7):c.3523-12G>A
|
rs373865383
|
0.00006
|
|
NM_017780.4(CHD7):c.381T>C (p.Pro127=)
|
rs373676882
|
0.00006
|
|
NM_017780.4(CHD7):c.510G>A (p.Pro170=)
|
rs748841915
|
0.00006
|
|
NM_017780.4(CHD7):c.7863G>A (p.Gln2621=)
|
rs749381782
|
0.00006
|
|
NM_017780.4(CHD7):c.7989G>A (p.Ala2663=)
|
rs767067759
|
0.00006
|
|
NM_017827.4(SARS2):c.540C>T (p.Val180=)
|
rs371250326
|
0.00006
|
|
NM_017947.4(MOCOS):c.1961-5A>T
|
rs771076927
|
0.00006
|
|
NM_017950.4(CCDC40):c.3354C>T (p.Tyr1118=)
|
rs374909386
|
0.00006
|
|
NM_018979.4(WNK1):c.2373+18_2373+19insC
|
rs760953797
|
0.00006
|
|
NM_018979.4(WNK1):c.5121A>G (p.Thr1707=)
|
rs199923381
|
0.00006
|
|
NM_020347.4(LZTFL1):c.646G>A (p.Ala216Thr)
|
rs146191659
|
0.00006
|
|
NM_020381.4(PDSS2):c.1002C>T (p.Ile334=)
|
rs375546963
|
0.00006
|
|
NM_020381.4(PDSS2):c.1008+17C>T
|
rs760414222
|
0.00006
|
|
NM_020433.5(JPH2):c.380-20C>T
|
rs779167207
|
0.00006
|
|
NM_020436.5(SALL4):c.262C>T (p.Leu88=)
|
rs755362179
|
0.00006
|
|
NM_020436.5(SALL4):c.2913G>A (p.Gln971=)
|
rs773001598
|
0.00006
|
|
NM_020632.3(ATP6V0A4):c.1909-19C>T
|
rs373949515
|
0.00006
|
|
NM_020937.4(FANCM):c.1397-16T>A
|
rs752547104
|
0.00006
|
|
NM_020937.4(FANCM):c.3096T>C (p.Asp1032=)
|
rs199507375
|
0.00006
|
|
NM_020975.6(RET):c.2742A>G (p.Pro914=)
|
rs375963128
|
0.00006
|
|
NM_021098.3(CACNA1H):c.2889C>T (p.Ala963=)
|
rs56990251
|
0.00006
|
|
NM_021098.3(CACNA1H):c.3155-5C>T
|
rs143582273
|
0.00006
|
|
NM_021098.3(CACNA1H):c.3573C>T (p.Thr1191=)
|
rs555890424
|
0.00006
|
|
NM_021098.3(CACNA1H):c.3684C>T (p.Phe1228=)
|
rs369508525
|
0.00006
|
|
NM_021098.3(CACNA1H):c.4350+16G>A
|
rs372361783
|
0.00006
|
|
NM_021098.3(CACNA1H):c.4567-4A>G
|
rs1055632728
|
0.00006
|
|
NM_021098.3(CACNA1H):c.4737G>A (p.Arg1579=)
|
rs201270662
|
0.00006
|
|
NM_021098.3(CACNA1H):c.5039+16C>T
|
rs58019636
|
0.00006
|
|
NM_021098.3(CACNA1H):c.5173+11G>A
|
rs369914581
|
0.00006
|
|
NM_021098.3(CACNA1H):c.5174-20C>T
|
rs749624753
|
0.00006
|
|
NM_021098.3(CACNA1H):c.5511C>T (p.Pro1837=)
|
rs58819745
|
0.00006
|
|
NM_021098.3(CACNA1H):c.6049-10G>A
|
rs199547941
|
0.00006
|
|
NM_021098.3(CACNA1H):c.6720C>G (p.Ala2240=)
|
rs375725132
|
0.00006
|
|
NM_021871.4(FGA):c.1444G>A (p.Val482Met)
|
rs139146037
|
0.00006
|
|
NM_021922.3(FANCE):c.901-20C>T
|
rs754828130
|
0.00006
|
|
NM_021922.3(FANCE):c.954A>G (p.Glu318=)
|
rs149719310
|
0.00006
|
|
NM_021922.3(FANCE):c.970-17C>A
|
rs758179752
|
0.00006
|
|
NM_022089.4(ATP13A2):c.2529+9G>A
|
rs200809857
|
0.00006
|
|
NM_022489.4(INF2):c.2879-10C>T
|
rs534732317
|
0.00006
|
|
NM_022489.4(INF2):c.3591G>A (p.Ala1197=)
|
rs765090867
|
0.00006
|
|
NM_023110.3(FGFR1):c.1285-15C>T
|
rs760069564
|
0.00006
|
|
NM_023110.3(FGFR1):c.2049-13C>T
|
rs756845879
|
0.00006
|
|
NM_024408.4(NOTCH2):c.1803C>T (p.Gly601=)
|
rs377566312
|
0.00006
|
|
NM_024408.4(NOTCH2):c.3462G>A (p.Ala1154=)
|
rs146593279
|
0.00006
|
|
NM_024529.5(CDC73):c.1066+8T>C
|
rs80356647
|
0.00006
|
|
NM_024529.5(CDC73):c.333C>T (p.Ser111=)
|
rs374834265
|
0.00006
|
|
NM_024675.4(PALB2):c.1935G>A (p.Glu645=)
|
rs141707455
|
0.00006
|
|
NM_024675.4(PALB2):c.3297G>A (p.Thr1099=)
|
rs45565738
|
0.00006
|
|
NM_024675.4(PALB2):c.765T>C (p.Asp255=)
|
rs45465299
|
0.00006
|
|
NM_024753.5(TTC21B):c.1743C>T (p.Asp581=)
|
rs200990862
|
0.00006
|
|
NM_024753.5(TTC21B):c.1875C>T (p.Asp625=)
|
rs201527373
|
0.00006
|
|
NM_025074.7(FRAS1):c.1072-5C>T
|
rs570183677
|
0.00006
|
|
NM_025114.4(CEP290):c.189T>C (p.Ala63=)
|
rs996908777
|
0.00006
|
|
NM_025114.4(CEP290):c.6477T>A (p.Thr2159=)
|
rs556820066
|
0.00006
|
|
NM_025216.3(WNT10A):c.402C>T (p.Tyr134=)
|
rs766593230
|
0.00006
|
|
NM_030943.4(AMN):c.45A>C (p.Ala15=)
|
rs753339887
|
0.00006
|
|
NM_031844.3(HNRNPU):c.1268A>G (p.Lys423Arg)
|
rs760669739
|
0.00006
|
|
NM_031885.5(BBS2):c.1797+13G>A
|
rs769739310
|
0.00006
|
|
NM_032122.5(DTNBP1):c.355+10A>G
|
rs368923800
|
0.00006
|
|
NM_032387.5(WNK4):c.1827A>G (p.Pro609=)
|
rs201340788
|
0.00006
|
|
NM_032444.4(SLX4):c.2898G>A (p.Gln966=)
|
rs748700450
|
0.00006
|
|
NM_032444.4(SLX4):c.4335G>C (p.Arg1445=)
|
rs139377113
|
0.00006
|
|
NM_032575.3(GLIS2):c.849C>T (p.His283=)
|
rs200829928
|
0.00006
|
|
NM_032634.4(PIGO):c.1662G>A (p.Leu554=)
|
rs369433160
|
0.00006
|
|
NM_032856.5(WDR73):c.267A>G (p.Leu89=)
|
rs772299478
|
0.00006
|
|
NM_032901.4(COX14):c.150A>G (p.Glu50=)
|
rs372336241
|
0.00006
|
|
NM_033028.5(BBS4):c.643-6T>C
|
rs753675755
|
0.00006
|
|
NM_033360.4(KRAS):c.4+5G>A
|
rs201789109
|
0.00006
|
|
NM_033380.3(COL4A5):c.528A>G (p.Pro176=)
|
rs780845413
|
0.00006
|
|
NM_053025.4(MYLK):c.3636C>T (p.Pro1212=)
|
rs780768361
|
0.00006
|
|
NM_138694.4(PKHD1):c.11506+14G>C
|
rs371687822
|
0.00006
|
|
NM_138694.4(PKHD1):c.2232C>T (p.Thr744=)
|
rs1443176251
|
0.00006
|
|
NM_144687.4(NLRP12):c.2785G>A (p.Ala929Thr)
|
rs146368839
|
0.00006
|
|
NM_144997.7(FLCN):c.396+7C>T
|
rs781155484
|
0.00006
|
|
NM_152296.5(ATP1A3):c.1368C>T (p.Ser456=)
|
rs782325595
|
0.00006
|
|
NM_152384.3(BBS5):c.516T>C (p.Ser172=)
|
rs758562179
|
0.00006
|
|
NM_152618.3(BBS12):c.1323G>A (p.Val441=)
|
rs766332688
|
0.00006
|
|
NM_152618.3(BBS12):c.882T>C (p.Tyr294=)
|
rs766149148
|
0.00006
|
|
NM_153240.5(NPHP3):c.141A>T (p.Arg47=)
|
rs774866337
|
0.00006
|
|
NM_153240.5(NPHP3):c.1887+17del
|
rs772091214
|
0.00006
|
|
NM_153676.4(USH1C):c.2112A>G (p.Pro704=)
|
rs199532754
|
0.00006
|
|
NM_153704.6(TMEM67):c.652-13T>C
|
rs376654537
|
0.00006
|
|
NM_173354.5(SIK1):c.207G>A (p.Glu69=)
|
rs201818967
|
0.00006
|
|
NM_173354.5(SIK1):c.855G>A (p.Pro285=)
|
rs549052367
|
0.00006
|
|
NM_176824.3(BBS7):c.1231-16T>C
|
rs781657811
|
0.00006
|
|
NM_178138.6(LHX3):c.919C>A (p.Arg307=)
|
rs145867977
|
0.00006
|
|
NM_178452.6(DNAAF1):c.768G>A (p.Pro256=)
|
rs142601761
|
0.00006
|
|
NM_181486.4(TBX5):c.1476C>T (p.Gly492=)
|
rs369034176
|
0.00006
|
|
NM_198252.3(GSN):c.1191+14G>A
|
rs377308627
|
0.00006
|
|
NM_198334.3(GANAB):c.1594-9C>T
|
rs200289173
|
0.00006
|
|
NM_198428.3(BBS9):c.1560G>A (p.Pro520=)
|
rs779586578
|
0.00006
|
|
NM_198428.3(BBS9):c.2115+19A>G
|
rs184420556
|
0.00006
|
|
NM_203446.3(SYNJ1):c.3697+12T>G
|
rs763338383
|
0.00006
|
|
NM_212482.4(FN1):c.5943T>C (p.Ala1981=)
|
rs200485690
|
0.00006
|
|
NM_212482.4(FN1):c.7116C>T (p.Asn2372=)
|
rs568449322
|
0.00006
|
|
NM_000053.4(ATP7B):c.582C>T (p.Pro194=)
|
rs780671732
|
0.00005
|
|
NM_000054.7(AVPR2):c.663C>T (p.Ile221=)
|
rs13306212
|
0.00005
|
|
NM_000061.3(BTK):c.1103-11C>G
|
rs782217532
|
0.00005
|
|
NM_000064.4(C3):c.1854C>T (p.Asp618=)
|
rs570503574
|
0.00005
|
|
NM_000069.3(CACNA1S):c.852C>T (p.Thr284=)
|
rs372633174
|
0.00005
|
|
NM_000091.5(COL4A3):c.2637G>A (p.Pro879=)
|
rs755312698
|
0.00005
|
|
NM_000091.5(COL4A3):c.325-20G>A
|
rs760968700
|
0.00005
|
|
NM_000092.5(COL4A4):c.4525C>T (p.Leu1509=)
|
rs200849651
|
0.00005
|
|
NM_000092.5(COL4A4):c.4701G>A (p.Ala1567=)
|
rs375189390
|
0.00005
|
|
NM_000135.4(FANCA):c.2317-8C>T
|
rs753766357
|
0.00005
|
|
NM_000138.5(FBN1):c.346+16C>T
|
rs369090026
|
0.00005
|
|
NM_000142.5(FGFR3):c.1827C>G (p.Ala609=)
|
rs750472969
|
0.00005
|
|
NM_000151.4(G6PC1):c.786C>T (p.Leu262=)
|
rs138509513
|
0.00005
|
|
NM_000162.5(GCK):c.270G>A (p.Lys90=)
|
rs571528578
|
0.00005
|
|
NM_000168.6(GLI3):c.1365C>T (p.Pro455=)
|
rs544431683
|
0.00005
|
|
NM_000186.4(CFH):c.59-16T>C
|
rs201067374
|
0.00005
|
|
NM_000195.5(HPS1):c.1860G>A (p.Gly620=)
|
rs376722018
|
0.00005
|
|
NM_000195.5(HPS1):c.909A>G (p.Pro303=)
|
rs139169204
|
0.00005
|
|
NM_000204.5(CFI):c.1044+8C>T
|
rs190420174
|
0.00005
|
|
NM_000204.5(CFI):c.729T>A (p.Gly243=)
|
rs749140698
|
0.00005
|
|
NM_000216.4(ANOS1):c.1419C>T (p.Thr473=)
|
rs781745609
|
0.00005
|
|
NM_000218.3(KCNQ1):c.1749C>T (p.Arg583=)
|
rs200670744
|
0.00005
|
|
NM_000249.4(MLH1):c.438A>G (p.Gln146=)
|
rs377279035
|
0.00005
|
|
NM_000276.4(OCRL):c.2563G>A (p.Val855Ile)
|
rs376280495
|
0.00005
|
|
NM_000334.4(SCN4A):c.1710C>T (p.Ile570=)
|
rs760067411
|
0.00005
|
|
NM_000334.4(SCN4A):c.4626C>T (p.Leu1542=)
|
rs773864470
|
0.00005
|
|
NM_000334.4(SCN4A):c.704-8G>A
|
rs762393514
|
0.00005
|
|
NM_000349.3(STAR):c.402T>C (p.Tyr134=)
|
rs144881901
|
0.00005
|
|
NM_000352.6(ABCC8):c.2883G>A (p.Ser961=)
|
rs556416269
|
0.00005
|
|
NM_000371.4(TTR):c.336+18C>T
|
rs370628373
|
0.00005
|
|
NM_000376.3(VDR):c.162G>A (p.Arg54=)
|
rs774173372
|
0.00005
|
|
NM_000435.3(NOTCH3):c.4413C>T (p.Tyr1471=)
|
rs920286007
|
0.00005
|
|
NM_000478.6(ALPL):c.918C>T (p.Asp306=)
|
rs373257447
|
0.00005
|
|
NM_000497.4(CYP11B1):c.157C>T (p.Leu53=)
|
rs61751135
|
0.00005
|
|
NM_000498.3(CYP11B2):c.702C>T (p.Thr234=)
|
rs771614097
|
0.00005
|
|
NM_000503.6(EYA1):c.1530G>A (p.Ala510=)
|
rs147434089
|
0.00005
|
|
NM_000516.7(GNAS):c.1039-4G>A
|
rs575570315
|
0.00005
|
|
NM_000516.7(GNAS):c.576G>T (p.Pro192=)
|
rs558915293
|
0.00005
|
|
NM_000548.5(TSC2):c.1599+9C>T
|
rs776274603
|
0.00005
|
|
NM_000719.7(CACNA1C):c.2339+18C>T
|
rs778390407
|
0.00005
|
|
NM_000744.7(CHRNA4):c.492C>T (p.Asp164=)
|
rs200259564
|
0.00005
|
|
NM_000901.5(NR3C2):c.1824T>C (p.Asp608=)
|
rs557002204
|
0.00005
|
|
NM_000987.5(RPL26):c.327A>G (p.Leu109=)
|
rs755255765
|
0.00005
|
|
NM_001009944.3(PKD1):c.1515C>T (p.Ala505=)
|
rs748123570
|
0.00005
|
|
NM_001009944.3(PKD1):c.4572C>T (p.Thr1524=)
|
rs759043048
|
0.00005
|
|
NM_001009944.3(PKD1):c.9990C>T (p.Ser3330=)
|
rs770635587
|
0.00005
|
|
NM_001018113.3(FANCB):c.1494G>T (p.Lys498Asn)
|
rs199510538
|
0.00005
|
|
NM_001018115.3(FANCD2):c.2022-4G>A
|
rs748941966
|
0.00005
|
|
NM_001018115.3(FANCD2):c.3850-17G>T
|
rs369702202
|
0.00005
|
|
NM_001023570.4(IQCB1):c.876+19A>G
|
rs368053119
|
0.00005
|
|
NM_001041.4(SI):c.4000-15T>A
|
rs201336234
|
0.00005
|
|
NM_001041.4(SI):c.4500C>T (p.Asp1500=)
|
rs553547580
|
0.00005
|
|
NM_001041.4(SI):c.807+8A>G
|
rs759240554
|
0.00005
|
|
NM_001042413.2(GLIS3):c.2297+16T>C
|
rs377104078
|
0.00005
|
|
NM_001042492.3(NF1):c.4263G>A (p.Pro1421=)
|
rs201648604
|
0.00005
|
|
NM_001042492.3(NF1):c.6315C>T (p.His2105=)
|
rs145732909
|
0.00005
|
|
NM_001077653.2(TBX20):c.426T>C (p.Pro142=)
|
rs373924069
|
0.00005
|
|
NM_001080467.3(MYO5B):c.4764C>T (p.Thr1588=)
|
rs747139348
|
0.00005
|
|
NM_001081.4(CUBN):c.4470C>T (p.Thr1490=)
|
rs768720429
|
0.00005
|
|
NM_001099922.3(ALG13):c.3240A>G (p.Pro1080=)
|
rs773452673
|
0.00005
|
|
NM_001103.4(ACTN2):c.537-14C>T
|
rs577211083
|
0.00005
|
|
NM_001113378.2(FANCI):c.1263C>T (p.Leu421=)
|
rs376956791
|
0.00005
|
|
NM_001113378.2(FANCI):c.2946C>T (p.Ala982=)
|
rs762453164
|
0.00005
|
|
NM_001113378.2(FANCI):c.3007-7A>G
|
rs778906473
|
0.00005
|
|
NM_001113378.2(FANCI):c.534C>T (p.Thr178=)
|
rs754733731
|
0.00005
|
|
NM_001122681.2(SH3BP2):c.247C>A (p.Arg83=)
|
rs139626310
|
0.00005
|
|
NM_001128178.3(NPHP1):c.558T>G (p.Pro186=)
|
rs372637635
|
0.00005
|
|
NM_001134831.2(AHI1):c.2037-7T>C
|
rs539801988
|
0.00005
|
|
NM_001142800.2(EYS):c.1253A>G (p.Asn418Ser)
|
rs200542517
|
0.00005
|
|
NM_001144967.3(NEDD4L):c.2353-19T>C
|
rs773754441
|
0.00005
|
|
NM_001144967.3(NEDD4L):c.285C>T (p.Asp95=)
|
rs185602532
|
0.00005
|
|
NM_001148.6(ANK2):c.9936C>T (p.Ser3312=)
|
rs758162927
|
0.00005
|
|
NM_001164508.2(NEB):c.1675-4C>G
|
rs369915027
|
0.00005
|
|
NM_001177316.2(SLC34A3):c.1179C>T (p.Ser393=)
|
rs200677629
|
0.00005
|
|
NM_001184.4(ATR):c.7192+19A>G
|
rs376334522
|
0.00005
|
|
NM_001184880.2(PCDH19):c.3320G>A (p.Arg1107His)
|
rs200021840
|
0.00005
|
|
NM_001204.7(BMPR2):c.150A>G (p.Arg50=)
|
rs201759998
|
0.00005
|
|
NM_001232.4(CASQ2):c.927C>T (p.Asp309=)
|
rs749266321
|
0.00005
|
|
NM_001243133.2(NLRP3):c.309T>C (p.Thr103=)
|
rs199822721
|
0.00005
|
|
NM_001267550.2(TTN):c.30717A>C (p.Lys10239Asn)
|
rs553520141
|
0.00005
|
|
NM_001267550.2(TTN):c.55932T>C (p.Phe18644=)
|
rs755839294
|
0.00005
|
|
NM_001267550.2(TTN):c.60221-19T>C
|
rs533551256
|
0.00005
|
|
NM_001267550.2(TTN):c.99039T>C (p.Asp33013=)
|
rs1037997977
|
0.00005
|
|
NM_001282225.2(ADA2):c.702G>A (p.Glu234=)
|
rs528271447
|
0.00005
|
|
NM_001349206.2(LPIN1):c.945G>T (p.Pro315=)
|
rs754677964
|
0.00005
|
|
NM_001360.3(DHCR7):c.303C>T (p.Thr101=)
|
rs777709295
|
0.00005
|
|
NM_001360.3(DHCR7):c.964-5C>T
|
rs767108226
|
0.00005
|
|
NM_001367624.2(ZNF469):c.4947G>A (p.Ala1649=)
|
rs770986542
|
0.00005
|
|
NM_001369.3(DNAH5):c.2307C>T (p.Ala769=)
|
rs773547505
|
0.00005
|
|
NM_001378454.1(ALMS1):c.4857A>G (p.Ala1619=)
|
rs367772965
|
0.00005
|
|
NM_001379500.1(COL18A1):c.2103C>T (p.Gly701=)
|
rs377652187
|
0.00005
|
|
NM_001384479.1(AGT):c.363G>A
|
rs752658346
|
0.00005
|
|
NM_001384732.1(CPLANE1):c.1545C>T (p.Asn515=)
|
rs773819961
|
0.00005
|
|
NM_001384732.1(CPLANE1):c.3897A>G (p.Ala1299=)
|
rs372380629
|
0.00005
|
|
NM_001625.4(AK2):c.615G>C (p.Gly205=)
|
rs769651837
|
0.00005
|
|
NM_001710.6(CFB):c.1778+8C>T
|
rs148298609
|
0.00005
|
|
NM_001844.5(COL2A1):c.312A>G (p.Gly104=)
|
rs139205058
|
0.00005
|
|
NM_001845.6(COL4A1):c.2716+16A>G
|
rs767749066
|
0.00005
|
|
NM_001863.5(COX6B1):c.-11-8G>A
|
rs200312775
|
0.00005
|
|
NM_001999.4(FBN2):c.5674+18T>G
|
rs199749609
|
0.00005
|
|
NM_002067.5(GNA11):c.322-5C>T
|
rs773020890
|
0.00005
|
|
NM_002334.4(LRP4):c.3585C>T (p.Ser1195=)
|
rs148361325
|
0.00005
|
|
NM_002334.4(LRP4):c.4584-15T>C
|
rs777314555
|
0.00005
|
|
NM_002334.4(LRP4):c.5556C>T (p.Ala1852=)
|
rs200514161
|
0.00005
|
|
NM_002335.4(LRP5):c.4489-6C>T
|
rs377737536
|
0.00005
|
|
NM_002335.4(LRP5):c.4782C>T (p.Pro1594=)
|
rs752602099
|
0.00005
|
|
NM_002471.4(MYH6):c.5587C>T (p.Leu1863=)
|
rs142767538
|
0.00005
|
|
NM_002471.4(MYH6):c.5661+9A>G
|
rs373908250
|
0.00005
|
|
NM_002473.6(MYH9):c.3384T>C (p.Asn1128=)
|
rs531623930
|
0.00005
|
|
NM_002661.5(PLCG2):c.1073-15C>T
|
rs371214101
|
0.00005
|
|
NM_002661.5(PLCG2):c.1464C>T (p.Asp488=)
|
rs777149251
|
0.00005
|
|
NM_002661.5(PLCG2):c.323C>T (p.Thr108Met)
|
rs535715020
|
0.00005
|
|
NM_002661.5(PLCG2):c.3571-10C>T
|
rs376240742
|
0.00005
|
|
NM_002764.4(PRPS1):c.288G>A (p.Arg96=)
|
rs752194539
|
0.00005
|
|
NM_003052.5(SLC34A1):c.1443C>T (p.Asn481=)
|
rs137867155
|
0.00005
|
|
NM_003611.3(OFD1):c.1347A>G (p.Ala449=)
|
rs151287373
|
0.00005
|
|
NM_003640.5(ELP1):c.3360T>C (p.Tyr1120=)
|
rs766875245
|
0.00005
|
|
NM_003640.5(ELP1):c.617T>G (p.Phe206Cys)
|
rs184739734
|
0.00005
|
|
NM_003661.4(APOL1):c.390C>T (p.His130=)
|
rs760970273
|
0.00005
|
|
NM_003722.5(TP63):c.1626G>A (p.Pro542=)
|
rs370637253
|
0.00005
|
|
NM_003722.5(TP63):c.654A>G (p.Pro218=)
|
rs764672477
|
0.00005
|
|
NM_003901.4(SGPL1):c.705-13C>T
|
rs139455250
|
0.00005
|
|
NM_004006.3(DMD):c.1713T>A (p.Phe571Leu)
|
rs587782936
|
0.00005
|
|
NM_004168.4(SDHA):c.51G>A (p.Ala17=)
|
rs764698195
|
0.00005
|
|
NM_004370.6(COL12A1):c.384C>T (p.Thr128=)
|
rs200378966
|
0.00005
|
|
NM_004380.3(CREBBP):c.6195C>T (p.Ser2065=)
|
rs374150949
|
0.00005
|
|
NM_004415.4(DSP):c.1983T>C (p.Asn661=)
|
rs770735715
|
0.00005
|
|
NM_004525.3(LRP2):c.1043-19T>C
|
rs374755698
|
0.00005
|
|
NM_004525.3(LRP2):c.5367G>A (p.Glu1789=)
|
rs528249827
|
0.00005
|
|
NM_004525.3(LRP2):c.9312C>T (p.Ser3104=)
|
rs538919316
|
0.00005
|
|
NM_004525.3(LRP2):c.9981C>G (p.Ala3327=)
|
rs149558767
|
0.00005
|
|
NM_004560.4(ROR2):c.1712A>G (p.His571Arg)
|
rs376970201
|
0.00005
|
|
NM_004606.5(TAF1):c.4521G>A (p.Ala1507=)
|
rs758753633
|
0.00005
|
|
NM_004629.2(FANCG):c.1158C>G (p.Pro386=)
|
rs201041980
|
0.00005
|
|
NM_004646.4(NPHS1):c.1185T>C (p.Gly395=)
|
rs149815919
|
0.00005
|
|
NM_004836.7(EIF2AK3):c.72G>C (p.Ala24=)
|
rs1052744793
|
0.00005
|
|
NM_004937.3(CTNS):c.225+19C>T
|
rs550960394
|
0.00005
|
|
NM_004937.3(CTNS):c.364G>A (p.Ala122Thr)
|
rs187396540
|
0.00005
|
|
NM_005515.4(MNX1):c.853-4G>T
|
rs751247773
|
0.00005
|
|
NM_006005.3(WFS1):c.1026C>T (p.Ala342=)
|
rs777072078
|
0.00005
|
|
NM_006005.3(WFS1):c.444C>T (p.Cys148=)
|
rs998539254
|
0.00005
|
|
NM_006005.3(WFS1):c.477C>T (p.Asn159=)
|
rs753964845
|
0.00005
|
|
NM_006019.4(TCIRG1):c.477G>A (p.Gly159=)
|
rs746159308
|
0.00005
|
|
NM_006231.4(POLE):c.4011C>T (p.Ser1337=)
|
rs756716850
|
0.00005
|
|
NM_006306.4(SMC1A):c.2646G>A (p.Ser882=)
|
rs1193658492
|
0.00005
|
|
NM_006516.4(SLC2A1):c.276-9C>T
|
rs529579952
|
0.00005
|
|
NM_006642.5(SDCCAG8):c.180C>T (p.Asp60=)
|
rs377358593
|
0.00005
|
|
NM_006642.5(SDCCAG8):c.67+20T>C
|
rs562137055
|
0.00005
|
|
NM_007294.4(BRCA1):c.199G>T (p.Asp67Tyr)
|
rs80357102
|
0.00005
|
|
NM_012179.4(FBXO7):c.1221G>A (p.Pro407=)
|
rs201127594
|
0.00005
|
|
NM_012203.2(GRHPR):c.342C>T (p.Leu114=)
|
rs374108537
|
0.00005
|
|
NM_012203.2(GRHPR):c.357A>G (p.Leu119=)
|
rs186922220
|
0.00005
|
|
NM_012210.4(TRIM32):c.1275T>C (p.Asp425=)
|
rs150813870
|
0.00005
|
|
NM_012330.4(KAT6B):c.3801C>T (p.Thr1267=)
|
rs375206291
|
0.00005
|
|
NM_012330.4(KAT6B):c.4878C>T (p.Tyr1626=)
|
rs146568876
|
0.00005
|
|
NM_014714.4(IFT140):c.3660+14G>A
|
rs571494292
|
0.00005
|
|
NM_014714.4(IFT140):c.594G>A (p.Gly198=)
|
rs754896534
|
0.00005
|
|
NM_014956.5(CEP164):c.237C>T (p.Asn79=)
|
rs149281923
|
0.00005
|
|
NM_015102.5(NPHP4):c.1504-12C>G
|
rs753092403
|
0.00005
|
|
NM_015102.5(NPHP4):c.1763+14C>G
|
rs752748198
|
0.00005
|
|
NM_015158.5(KANK1):c.1011G>A (p.Arg337=)
|
rs142210244
|
0.00005
|
|
NM_015272.5(RPGRIP1L):c.3701+14G>A
|
rs370009233
|
0.00005
|
|
NM_015910.7(WDPCP):c.1793G>A (p.Gly598Asp)
|
rs771029060
|
0.00005
|
|
NM_015910.7(WDPCP):c.825+19T>G
|
rs780109239
|
0.00005
|
|
NM_016203.4(PRKAG2):c.147C>T (p.Asp49=)
|
rs761196275
|
0.00005
|
|
NM_017617.5(NOTCH1):c.2355T>C (p.Gly785=)
|
rs199719103
|
0.00005
|
|
NM_017780.4(CHD7):c.2675G>A (p.Arg892His)
|
rs200188105
|
0.00005
|
|
NM_017780.4(CHD7):c.5301-13T>C
|
rs368716487
|
0.00005
|
|
NM_017780.4(CHD7):c.5745G>A (p.Arg1915=)
|
rs376993840
|
0.00005
|
|
NM_018979.4(WNK1):c.2139+7A>G
|
rs757902795
|
0.00005
|
|
NM_020247.5(COQ8A):c.1554C>T (p.Phe518=)
|
rs747135135
|
0.00005
|
|
NM_020975.6(RET):c.1476C>G (p.Thr492=)
|
rs758249079
|
0.00005
|
|
NM_020975.6(RET):c.73+17G>T
|
rs763327195
|
0.00005
|
|
NM_021098.3(CACNA1H):c.1221C>T (p.Ser407=)
|
rs370061462
|
0.00005
|
|
NM_021098.3(CACNA1H):c.138C>T (p.Leu46=)
|
rs960225573
|
0.00005
|
|
NM_021098.3(CACNA1H):c.2715C>T (p.Leu905=)
|
rs746896203
|
0.00005
|
|
NM_021098.3(CACNA1H):c.3135C>G (p.Leu1045=)
|
rs560635024
|
0.00005
|
|
NM_021098.3(CACNA1H):c.3155-4G>A
|
rs543267343
|
0.00005
|
|
NM_021098.3(CACNA1H):c.4039-17C>T
|
rs775820161
|
0.00005
|
|
NM_021098.3(CACNA1H):c.4223+14C>T
|
rs538104013
|
0.00005
|
|
NM_021098.3(CACNA1H):c.4778-4G>A
|
rs779949902
|
0.00005
|
|
NM_021098.3(CACNA1H):c.576C>T (p.Asn192=)
|
rs754501360
|
0.00005
|
|
NM_021098.3(CACNA1H):c.5888-16T>A
|
rs965860206
|
0.00005
|
|
NM_021098.3(CACNA1H):c.699C>T (p.Val233=)
|
rs200398792
|
0.00005
|
|
NM_021922.3(FANCE):c.210G>A (p.Glu70=)
|
rs1008512809
|
0.00005
|
|
NM_022454.4(SOX17):c.549C>T (p.Phe183=)
|
rs929689090
|
0.00005
|
|
NM_022454.4(SOX17):c.948A>G (p.Gln316=)
|
rs888660919
|
0.00005
|
|
NM_022489.4(INF2):c.2879-9G>A
|
rs373139405
|
0.00005
|
|
NM_024334.3(TMEM43):c.442+12G>C
|
rs530183718
|
0.00005
|
|
NM_024649.5(BBS1):c.1773G>A (p.Ala591=)
|
rs147783319
|
0.00005
|
|
NM_024753.5(TTC21B):c.2398T>C (p.Leu800=)
|
rs781367281
|
0.00005
|
|
NM_024753.5(TTC21B):c.2951-4C>T
|
rs369065819
|
0.00005
|
|
NM_025114.4(CEP290):c.441+18T>C
|
rs756876705
|
0.00005
|
|
NM_025114.4(CEP290):c.6358-4G>A
|
rs369154492
|
0.00005
|
|
NM_025132.4(WDR19):c.522+13C>T
|
rs374417243
|
0.00005
|
|
NM_025132.4(WDR19):c.962-11G>A
|
rs537505873
|
0.00005
|
|
NM_031466.8(TRAPPC9):c.-73G>C
|
rs767996463
|
0.00005
|
|
NM_032444.4(SLX4):c.237T>C (p.Ala79=)
|
rs375620914
|
0.00005
|
|
NM_032575.3(GLIS2):c.789C>T (p.Tyr263=)
|
rs368686815
|
0.00005
|
|
NM_032578.4(MYPN):c.2925+20A>C
|
rs200111945
|
0.00005
|
|
NM_032578.4(MYPN):c.3456C>T (p.Thr1152=)
|
rs202183926
|
0.00005
|
|
NM_033028.5(BBS4):c.1170C>T (p.Asn390=)
|
rs376378002
|
0.00005
|
|
NM_033028.5(BBS4):c.76+18dup
|
rs745516764
|
0.00005
|
|
NM_033380.3(COL4A5):c.2348C>T (p.Pro783Leu)
|
rs747288279
|
0.00005
|
|
NM_033380.3(COL4A5):c.4309C>G (p.Gln1437Glu)
|
rs143778018
|
0.00005
|
|
NM_052989.3(IFT122):c.3594G>T (p.Leu1198=)
|
rs775936679
|
0.00005
|
|
NM_080425.4(GNAS):c.1462G>A (p.Ala488Thr)
|
rs552813440
|
0.00005
|
|
NM_138694.4(PKHD1):c.3183C>T (p.Val1061=)
|
rs759939735
|
0.00005
|
|
NM_138694.4(PKHD1):c.977-20G>A
|
rs753880972
|
0.00005
|
|
NM_144997.7(FLCN):c.1692C>T (p.His564=)
|
rs201810397
|
0.00005
|
|
NM_152384.3(BBS5):c.190T>C (p.Leu64=)
|
rs777369461
|
0.00005
|
|
NM_152703.5(SAMD9L):c.2316T>G (p.Thr772=)
|
rs201861233
|
0.00005
|
|
NM_153240.5(NPHP3):c.3126-4T>A
|
rs746873186
|
0.00005
|
|
NM_173551.5(ANKS6):c.1947C>T (p.His649=)
|
rs372845968
|
0.00005
|
|
NM_176824.3(BBS7):c.1511+9A>G
|
rs192602290
|
0.00005
|
|
NM_198428.3(BBS9):c.270C>T (p.Thr90=)
|
rs747398844
|
0.00005
|
|
NM_207361.6(FREM2):c.4569T>C (p.Arg1523=)
|
rs146585542
|
0.00005
|
|
NM_207361.6(FREM2):c.6465T>C (p.Asp2155=)
|
rs373878188
|
0.00005
|
|
NM_212482.4(FN1):c.1053C>T (p.Tyr351=)
|
rs202133752
|
0.00005
|
|
NM_212482.4(FN1):c.3187A>G (p.Thr1063Ala)
|
rs752617883
|
0.00005
|
|
NM_212482.4(FN1):c.4626G>A (p.Pro1542=)
|
rs142628915
|
0.00005
|
|
NM_000038.6(APC):c.1242C>T (p.Arg414=)
|
rs751423790
|
0.00004
|
|
NM_000051.4(ATM):c.5868C>T (p.Leu1956=)
|
rs540054724
|
0.00004
|
|
NM_000069.3(CACNA1S):c.2148C>T (p.Thr716=)
|
rs747075757
|
0.00004
|
|
NM_000069.3(CACNA1S):c.2667C>T (p.Ala889=)
|
rs188071541
|
0.00004
|
|
NM_000069.3(CACNA1S):c.3796-19G>A
|
rs369787862
|
0.00004
|
|
NM_000069.3(CACNA1S):c.5370+7C>T
|
rs571061537
|
0.00004
|
|
NM_000069.3(CACNA1S):c.87G>T (p.Arg29=)
|
rs748352939
|
0.00004
|
|
NM_000085.5(CLCNKB):c.1149C>T (p.Asp383=)
|
rs757343183
|
0.00004
|
|
NM_000091.5(COL4A3):c.1115-12A>G
|
rs761088575
|
0.00004
|
|
NM_000091.5(COL4A3):c.1917C>T (p.Pro639=)
|
rs369320502
|
0.00004
|
|
NM_000091.5(COL4A3):c.3211-13G>C
|
rs200555661
|
0.00004
|
|
NM_000091.5(COL4A3):c.934-6C>A
|
rs369438839
|
0.00004
|
|
NM_000091.5(COL4A3):c.988-6C>T
|
rs762463604
|
0.00004
|
|
NM_000092.5(COL4A4):c.1665G>A (p.Ala555=)
|
rs137880920
|
0.00004
|
|
NM_000092.5(COL4A4):c.1782A>G (p.Glu594=)
|
rs370489388
|
0.00004
|
|
NM_000092.5(COL4A4):c.2145G>A (p.Ala715=)
|
rs773270107
|
0.00004
|
|
NM_000092.5(COL4A4):c.2613C>T (p.Leu871=)
|
rs780182097
|
0.00004
|
|
NM_000092.5(COL4A4):c.2925G>A (p.Gly975=)
|
rs559743197
|
0.00004
|
|
NM_000092.5(COL4A4):c.4975T>C (p.Leu1659=)
|
rs368044748
|
0.00004
|
|
NM_000093.5(COL5A1):c.4374C>T (p.Asp1458=)
|
rs201335857
|
0.00004
|
|
NM_000135.4(FANCA):c.2602-16T>G
|
rs762865666
|
0.00004
|
|
NM_000135.4(FANCA):c.3239+7C>T
|
rs775293779
|
0.00004
|
|
NM_000138.5(FBN1):c.3837A>G (p.Val1279=)
|
rs59007872
|
0.00004
|
|
NM_000151.4(G6PC1):c.132C>T (p.Tyr44=)
|
rs202190197
|
0.00004
|
|
NM_000151.4(G6PC1):c.804C>T (p.Leu268=)
|
rs377077333
|
0.00004
|
|
NM_000152.5(GAA):c.762G>A (p.Ser254=)
|
rs533960093
|
0.00004
|
|
NM_000162.5(GCK):c.834C>T (p.Asp278=)
|
rs200071687
|
0.00004
|
|
NM_000168.6(GLI3):c.2307G>A (p.Pro769=)
|
rs766163765
|
0.00004
|
|
NM_000168.6(GLI3):c.2706C>T (p.Ala902=)
|
rs779103816
|
0.00004
|
|
NM_000169.3(GLA):c.1000-14T>C
|
rs397515868
|
0.00004
|
|
NM_000169.3(GLA):c.6G>A (p.Gln2=)
|
rs782748047
|
0.00004
|
|
NM_000179.3(MSH6):c.3557-17A>T
|
rs542542093
|
0.00004
|
|
NM_000186.4(CFH):c.2236+18A>G
|
rs749643506
|
0.00004
|
|
NM_000186.4(CFH):c.2957-15T>C
|
rs756514818
|
0.00004
|
|
NM_000186.4(CFH):c.807T>C (p.Asn269=)
|
rs757654697
|
0.00004
|
|
NM_000186.4(CFH):c.964+18C>A
|
rs1258420173
|
0.00004
|
|
NM_000187.4(HGD):c.1027A>C (p.Met343Leu)
|
rs755078457
|
0.00004
|
|
NM_000187.4(HGD):c.6T>A (p.Ala2=)
|
rs1308413187
|
0.00004
|
|
NM_000187.4(HGD):c.807C>T (p.His269=)
|
rs758567130
|
0.00004
|
|
NM_000195.5(HPS1):c.1164C>T (p.Ser388=)
|
rs747305546
|
0.00004
|
|
NM_000195.5(HPS1):c.1341C>G (p.Thr447=)
|
rs990213443
|
0.00004
|
|
NM_000195.5(HPS1):c.1532+14G>A
|
rs761708348
|
0.00004
|
|
NM_000195.5(HPS1):c.1977C>T (p.Thr659=)
|
rs751349303
|
0.00004
|
|
NM_000213.5(ITGB4):c.4932A>G (p.Pro1644=)
|
rs368991974
|
0.00004
|
|
NM_000214.3(JAG1):c.1349-7T>A
|
rs554200350
|
0.00004
|
|
NM_000214.3(JAG1):c.400T>C (p.Leu134=)
|
rs140511204
|
0.00004
|
|
NM_000216.4(ANOS1):c.1932G>A (p.Pro644=)
|
rs199652310
|
0.00004
|
|
NM_000216.4(ANOS1):c.723C>A (p.Ala241=)
|
rs756066919
|
0.00004
|
|
NM_000222.3(KIT):c.840G>C (p.Ala280=)
|
rs142772432
|
0.00004
|
|
NM_000237.3(LPL):c.1338T>C (p.Ser446=)
|
rs146509813
|
0.00004
|
|
NM_000238.4(KCNH2):c.1471G>A (p.Val491Ile)
|
rs374376640
|
0.00004
|
|
NM_000238.4(KCNH2):c.2901G>A (p.Pro967=)
|
rs780481239
|
0.00004
|
|
NM_000239.3(LYZ):c.434G>A (p.Gly145Asp)
|
rs762616173
|
0.00004
|
|
NM_000243.3(MEFV):c.2109C>T (p.Ser703=)
|
rs104895118
|
0.00004
|
|
NM_000249.4(MLH1):c.2252A>G (p.Lys751Arg)
|
rs140195825
|
0.00004
|
|
NM_000255.4(MMUT):c.756C>T (p.His252=)
|
rs376716145
|
0.00004
|
|
NM_000256.3(MYBPC3):c.150C>T (p.Ser50=)
|
rs368918487
|
0.00004
|
|
NM_000256.3(MYBPC3):c.2640C>T (p.Asp880=)
|
rs397515980
|
0.00004
|
|
NM_000256.3(MYBPC3):c.630C>T (p.His210=)
|
rs762695516
|
0.00004
|
|
NM_000256.3(MYBPC3):c.639C>T (p.Tyr213=)
|
rs727504858
|
0.00004
|
|
NM_000256.3(MYBPC3):c.82G>A (p.Val28Met)
|
rs776834755
|
0.00004
|
|
NM_000257.4(MYH7):c.4077C>T (p.Arg1359=)
|
rs45523835
|
0.00004
|
|
NM_000257.4(MYH7):c.4083T>G (p.Leu1361=)
|
rs754295295
|
0.00004
|
|
NM_000257.4(MYH7):c.924C>T (p.Tyr308=)
|
rs762065412
|
0.00004
|
|
NM_000264.5(PTCH1):c.584+10G>A
|
rs765713791
|
0.00004
|
|
NM_000276.4(OCRL):c.375G>T (p.Glu125Asp)
|
rs773022942
|
0.00004
|
|
NM_000291.4(PGK1):c.116+8C>T
|
rs369581587
|
0.00004
|
|
NM_000303.3(PMM2):c.384C>T (p.Asn128=)
|
rs147068457
|
0.00004
|
|
NM_000311.5(PRNP):c.159C>T (p.Gly53=)
|
rs776188950
|
0.00004
|
|
NM_000334.4(SCN4A):c.1017C>T (p.Asp339=)
|
rs375655445
|
0.00004
|
|
NM_000334.4(SCN4A):c.204C>T (p.Tyr68=)
|
rs80266947
|
0.00004
|
|
NM_000334.4(SCN4A):c.2376+10G>A
|
rs1194053149
|
0.00004
|
|
NM_000334.4(SCN4A):c.3594C>T (p.Phe1198=)
|
rs201346556
|
0.00004
|
|
NM_000334.4(SCN4A):c.4566C>T (p.Phe1522=)
|
rs538968877
|
0.00004
|
|
NM_000334.4(SCN4A):c.903C>T (p.Tyr301=)
|
rs201411232
|
0.00004
|
|
NM_000334.4(SCN4A):c.939C>T (p.Tyr313=)
|
rs761930114
|
0.00004
|
|
NM_000336.3(SCNN1B):c.177C>T (p.Phe59=)
|
rs778937866
|
0.00004
|
|
NM_000337.6(SGCD):c.393C>T (p.Ala131=)
|
rs397517922
|
0.00004
|
|
NM_000338.3(SLC12A1):c.1561-8T>G
|
rs778539276
|
0.00004
|
|
NM_000338.3(SLC12A1):c.1786+18C>T
|
rs750119347
|
0.00004
|
|
NM_000342.4(SLC4A1):c.1800+17C>T
|
rs370756072
|
0.00004
|
|
NM_000349.3(STAR):c.64+7G>C
|
rs769781083
|
0.00004
|
|
NM_000352.6(ABCC8):c.1281G>A (p.Gln427=)
|
rs112488640
|
0.00004
|
|
NM_000352.6(ABCC8):c.4677C>T (p.Phe1559=)
|
rs771106160
|
0.00004
|
|
NM_000352.6(ABCC8):c.480C>T (p.His160=)
|
rs769858502
|
0.00004
|
|
NM_000368.5(TSC1):c.1506C>T (p.Gly502=)
|
rs772337076
|
0.00004
|
|
NM_000368.5(TSC1):c.1974C>T (p.Asp658=)
|
rs118203608
|
0.00004
|
|
NM_000368.5(TSC1):c.912T>C (p.Tyr304=)
|
rs118203466
|
0.00004
|
|
NM_000379.4(XDH):c.1647G>T (p.Leu549=)
|
rs776000927
|
0.00004
|
|
NM_000379.4(XDH):c.867G>A (p.Ser289=)
|
rs749391188
|
0.00004
|
|
NM_000383.4(AIRE):c.351C>T (p.Ala117=)
|
rs201929488
|
0.00004
|
|
NM_000384.3(APOB):c.11319G>A (p.Lys3773=)
|
rs780811733
|
0.00004
|
|
NM_000384.3(APOB):c.2047G>T (p.Ala683Ser)
|
rs761947252
|
0.00004
|
|
NM_000384.3(APOB):c.7223C>T (p.Ser2408Phe)
|
rs140027955
|
0.00004
|
|
NM_000435.3(NOTCH3):c.825G>A (p.Val275=)
|
rs138837495
|
0.00004
|
|
NM_000441.2(SLC26A4):c.990C>T (p.Ser330=)
|
rs770874403
|
0.00004
|
|
NM_000458.4(HNF1B):c.723G>A (p.Ala241=)
|
rs768490293
|
0.00004
|
|
NM_000475.5(NR0B1):c.993C>T (p.Asn331=)
|
rs767263700
|
0.00004
|
|
NM_000485.3(APRT):c.459C>T (p.Cys153=)
|
rs375131814
|
0.00004
|
|
NM_000490.5(AVP):c.54C>T (p.Ser18=)
|
rs769495733
|
0.00004
|
|
NM_000497.4(CYP11B1):c.1440C>T (p.Asp480=)
|
rs576292844
|
0.00004
|
|
NM_000497.4(CYP11B1):c.537C>T (p.Asn179=)
|
rs779461311
|
0.00004
|
|
NM_000497.4(CYP11B1):c.561C>T (p.Asp187=)
|
rs772530391
|
0.00004
|
|
NM_000498.3(CYP11B2):c.72G>A (p.Leu24=)
|
rs768219160
|
0.00004
|
|
NM_000498.3(CYP11B2):c.786C>T (p.Cys262=)
|
rs141645920
|
0.00004
|
|
NM_000516.7(GNAS):c.684C>T (p.Arg228=)
|
rs147984566
|
0.00004
|
|
NM_000516.7(GNAS):c.936T>C (p.Phe312=)
|
rs764458531
|
0.00004
|
|
NM_000540.3(RYR1):c.12813C>T (p.Gly4271=)
|
rs750757411
|
0.00004
|
|
NM_000545.8(HNF1A):c.1015G>A (p.Gly339Ser)
|
rs766790596
|
0.00004
|
|
NM_000545.8(HNF1A):c.150C>T (p.Cys50=)
|
rs193922583
|
0.00004
|
|
NM_000545.8(HNF1A):c.713+13G>A
|
rs755961371
|
0.00004
|
|
NM_000548.5(TSC2):c.1245G>A (p.Ala415=)
|
rs757325185
|
0.00004
|
|
NM_000548.5(TSC2):c.2963G>C (p.Arg988Pro)
|
rs397515306
|
0.00004
|
|
NM_000548.5(TSC2):c.2967-6C>T
|
rs200746335
|
0.00004
|
|
NM_000548.5(TSC2):c.3069G>A (p.Thr1023=)
|
rs373950550
|
0.00004
|
|
NM_000548.5(TSC2):c.4356G>A (p.Ser1452=)
|
rs779122170
|
0.00004
|
|
NM_000548.5(TSC2):c.4392C>T (p.Ser1464=)
|
rs528080018
|
0.00004
|
|
NM_000548.5(TSC2):c.5331T>C (p.Pro1777=)
|
rs370820622
|
0.00004
|
|
NM_000548.5(TSC2):c.585C>T (p.Ile195=)
|
rs397515309
|
0.00004
|
|
NM_000548.5(TSC2):c.861G>C (p.Glu287Asp)
|
rs192567788
|
0.00004
|
|
NM_000551.4(VHL):c.420C>A (p.Leu140=)
|
rs369465430
|
0.00004
|
|
NM_000719.7(CACNA1C):c.102G>A (p.Ala34=)
|
rs376345869
|
0.00004
|
|
NM_000719.7(CACNA1C):c.2637G>A (p.Ala879=)
|
rs199629800
|
0.00004
|
|
NM_000719.7(CACNA1C):c.3567C>T (p.Cys1189=)
|
rs202058956
|
0.00004
|
|
NM_000719.7(CACNA1C):c.5277G>A (p.Ser1759=)
|
rs371931644
|
0.00004
|
|
NM_000969.5(RPL5):c.-6C>T
|
rs199523145
|
0.00004
|
|
NM_001003841.3(SLC6A19):c.1284G>C (p.Gly428=)
|
rs750242948
|
0.00004
|
|
NM_001003841.3(SLC6A19):c.1596C>T (p.Val532=)
|
rs748088574
|
0.00004
|
|
NM_001003841.3(SLC6A19):c.1701+18C>T
|
rs112626901
|
0.00004
|
|
NM_001009944.3(PKD1):c.3429C>T (p.Pro1143=)
|
rs377661579
|
0.00004
|
|
NM_001009944.3(PKD1):c.5985C>T (p.Arg1995=)
|
rs556708086
|
0.00004
|
|
NM_001009944.3(PKD1):c.7767C>T (p.His2589=)
|
rs555499745
|
0.00004
|
|
NM_001009944.3(PKD1):c.9573C>G (p.Leu3191=)
|
rs535771951
|
0.00004
|
|
NM_001011.4(RPS7):c.285C>T (p.Ile95=)
|
rs368931076
|
0.00004
|
|
NM_001014.5(RPS10):c.204C>T (p.Tyr68=)
|
rs368563040
|
0.00004
|
|
NM_001014.5(RPS10):c.432T>G (p.Ala144=)
|
rs199758134
|
0.00004
|
|
NM_001018005.2(TPM1):c.783C>T (p.Tyr261=)
|
rs751001221
|
0.00004
|
|
NM_001018115.3(FANCD2):c.2058G>A (p.Leu686=)
|
rs773593671
|
0.00004
|
|
NM_001018115.3(FANCD2):c.695+19A>G
|
rs369890094
|
0.00004
|
|
NM_001022.4(RPS19):c.72-17C>G
|
rs150151184
|
0.00004
|
|
NM_001023570.4(IQCB1):c.162T>C (p.Tyr54=)
|
rs149152786
|
0.00004
|
|
NM_001040716.2(PC):c.561C>T (p.Tyr187=)
|
rs145333590
|
0.00004
|
|
NM_001041.4(SI):c.1887+8A>C
|
rs372410648
|
0.00004
|
|
NM_001041.4(SI):c.2159+11C>T
|
rs761959886
|
0.00004
|
|
NM_001042492.3(NF1):c.2592C>T (p.Ser864=)
|
rs761499485
|
0.00004
|
|
NM_001042492.3(NF1):c.3708+11A>C
|
rs373751277
|
0.00004
|
|
NM_001042492.3(NF1):c.4835+13A>G
|
rs1034258238
|
0.00004
|
|
NM_001042492.3(NF1):c.4835+14T>C
|
rs758851307
|
0.00004
|
|
NM_001042492.3(NF1):c.5664C>T (p.Ile1888=)
|
rs373685150
|
0.00004
|
|
NM_001042492.3(NF1):c.5925T>C (p.Leu1975=)
|
rs375776474
|
0.00004
|
|
NM_001042492.3(NF1):c.61-9T>C
|
rs780956522
|
0.00004
|
|
NM_001042492.3(NF1):c.6360T>C (p.Ala2120=)
|
rs371578074
|
0.00004
|
|
NM_001079866.2(BCS1L):c.627C>T (p.Ile209=)
|
rs374582626
|
0.00004
|
|
NM_001081.4(CUBN):c.3672+20C>T
|
rs762191994
|
0.00004
|
|
NM_001081.4(CUBN):c.5964C>T (p.Pro1988=)
|
rs539618523
|
0.00004
|
|
NM_001081.4(CUBN):c.6462+19C>G
|
rs372356491
|
0.00004
|
|
NM_001081.4(CUBN):c.6822-6C>T
|
rs762758607
|
0.00004
|
|
NM_001082538.3(TCTN1):c.864C>T (p.Ser288=)
|
rs759380913
|
0.00004
|
|
NM_001099922.3(ALG13):c.1435+20A>G
|
rs368555602
|
0.00004
|
|
NM_001099922.3(ALG13):c.2013G>A (p.Pro671=)
|
rs775697727
|
0.00004
|
|
NM_001099922.3(ALG13):c.3132G>A (p.Ala1044=)
|
rs376626719
|
0.00004
|
|
NM_001101.5(ACTB):c.36C>T (p.Asn12=)
|
rs764325153
|
0.00004
|
|
NM_001102564.3(IFT43):c.570G>A (p.Glu190=)
|
rs201394224
|
0.00004
|
|
NM_001103.4(ACTN2):c.2376C>T (p.Ala792=)
|
rs369320952
|
0.00004
|
|
NM_001110219.3(GJB6):c.396G>A (p.Leu132=)
|
rs189971962
|
0.00004
|
|
NM_001110792.2(MECP2):c.1302C>T (p.Gly434=)
|
rs61753970
|
0.00004
|
|
NM_001111.5(ADAR):c.2598C>G (p.Arg866=)
|
rs749389266
|
0.00004
|
|
NM_001113378.2(FANCI):c.2334C>T (p.Tyr778=)
|
rs139857614
|
0.00004
|
|
NM_001113378.2(FANCI):c.993G>A (p.Lys331=)
|
rs146916445
|
0.00004
|
|
NM_001127217.3(SMAD9):c.1047C>T (p.Cys349=)
|
rs141357701
|
0.00004
|
|
NM_001128178.3(NPHP1):c.1353-9C>A
|
rs376436841
|
0.00004
|
|
NM_001128178.3(NPHP1):c.772-11A>T
|
rs189649819
|
0.00004
|
|
NM_001134363.3(RBM20):c.2634G>A (p.Pro878=)
|
rs755917660
|
0.00004
|
|
NM_001134831.2(AHI1):c.3329-20A>G
|
rs1004117268
|
0.00004
|
|
NM_001144967.3(NEDD4L):c.2186-10C>T
|
rs764821969
|
0.00004
|
|
NM_001144967.3(NEDD4L):c.2475C>T (p.Asn825=)
|
rs368300968
|
0.00004
|
|
NM_001148.6(ANK2):c.7149G>A (p.Pro2383=)
|
rs200877971
|
0.00004
|
|
NM_001164508.2(NEB):c.5452-4A>G
|
rs376623225
|
0.00004
|
|
NM_001164665.2(KIAA1549):c.1925C>T (p.Ser642Leu)
|
rs563536889
|
0.00004
|
|
NM_001164665.2(KIAA1549):c.4125G>A (p.Ala1375=)
|
rs377023001
|
0.00004
|
|
NM_001171.6(ABCC6):c.2058C>T (p.Phe686=)
|
rs57866002
|
0.00004
|
|
NM_001171.6(ABCC6):c.2397T>G (p.Gly799=)
|
rs770859081
|
0.00004
|
|
NM_001171.6(ABCC6):c.3870C>T (p.His1290=)
|
rs760304927
|
0.00004
|
|
NM_001174147.2(LMX1B):c.333C>T (p.Phe111=)
|
rs138385790
|
0.00004
|
|
NM_001177316.2(SLC34A3):c.757-16C>T
|
rs372713559
|
0.00004
|
|
NM_001199138.2(NLRC4):c.240A>G (p.Leu80=)
|
rs752238600
|
0.00004
|
|
NM_001202.6(BMP4):c.252G>A (p.Arg84=)
|
rs781435238
|
0.00004
|
|
NM_001243279.3(ACSF3):c.546G>A (p.Pro182=)
|
rs755163107
|
0.00004
|
|
NM_001244008.2(KIF1A):c.4032G>A (p.Ala1344=)
|
rs371203997
|
0.00004
|
|
NM_001267550.2(TTN):c.39818-9T>C
|
rs368834130
|
0.00004
|
|
NM_001267550.2(TTN):c.49008G>A (p.Val16336=)
|
rs781078888
|
0.00004
|
|
NM_001267550.2(TTN):c.51735C>T (p.Pro17245=)
|
rs747557917
|
0.00004
|
|
NM_001267550.2(TTN):c.57501T>C (p.Asn19167=)
|
rs780536141
|
0.00004
|
|
NM_001267550.2(TTN):c.6162C>T (p.Ala2054=)
|
rs143265948
|
0.00004
|
|
NM_001267550.2(TTN):c.62802T>C (p.Tyr20934=)
|
rs762414876
|
0.00004
|
|
NM_001267550.2(TTN):c.6489C>T (p.His2163=)
|
rs762045402
|
0.00004
|
|
NM_001267550.2(TTN):c.8937C>T (p.Asn2979=)
|
rs368525666
|
0.00004
|
|
NM_001267550.2(TTN):c.94230C>T (p.Ser31410=)
|
rs373502790
|
0.00004
|
|
NM_001277115.2(DNAH11):c.10398C>T (p.Ala3466=)
|
rs748648201
|
0.00004
|
|
NM_001282225.2(ADA2):c.72C>T (p.Phe24=)
|
rs374752508
|
0.00004
|
|
NM_001282531.3(ADNP):c.393G>A (p.Pro131=)
|
rs201360495
|
0.00004
|
|
NM_001283009.2(RTEL1):c.3546G>A (p.Ser1182=)
|
rs774018403
|
0.00004
|
|
NM_001289104.2(PRKCSH):c.678C>T (p.Asp226=)
|
rs539988285
|
0.00004
|
|
NM_001291415.2(KDM6A):c.3423C>T (p.Asp1141=)
|
rs781105490
|
0.00004
|
|
NM_001292034.3(TAB2):c.21A>G (p.Gln7=)
|
rs553008331
|
0.00004
|
|
NM_001365999.1(SZT2):c.3355C>G (p.Pro1119Ala)
|
rs137956992
|
0.00004
|
|
NM_001369.3(DNAH5):c.12171T>C (p.Asp4057=)
|
rs181510043
|
0.00004
|
|
NM_001372.4(DNAH9):c.5691G>A (p.Ser1897=)
|
rs377032791
|
0.00004
|
|
NM_001372066.1(TFAP2A):c.539-19C>T
|
rs375564449
|
0.00004
|
|
NM_001377265.1(MAPT):c.1881G>A (p.Ser627=)
|
rs115142761
|
0.00004
|
|
NM_001378454.1(ALMS1):c.10858A>C (p.Arg3620=)
|
rs201598829
|
0.00004
|
|
NM_001378454.1(ALMS1):c.11547+16T>C
|
rs373935106
|
0.00004
|
|
NM_001378454.1(ALMS1):c.11669-17A>G
|
rs762591261
|
0.00004
|
|
NM_001378454.1(ALMS1):c.11928C>T (p.Asn3976=)
|
rs571782143
|
0.00004
|
|
NM_001378454.1(ALMS1):c.12174C>T (p.Arg4058=)
|
rs377661858
|
0.00004
|
|
NM_001378454.1(ALMS1):c.1238-9A>G
|
rs372652836
|
0.00004
|
|
NM_001378454.1(ALMS1):c.1432+15G>A
|
rs376610564
|
0.00004
|
|
NM_001379081.2(FREM1):c.3378A>G (p.Thr1126=)
|
rs202213402
|
0.00004
|
|
NM_001379286.1(ZNF423):c.40+33082T>A
|
rs556089941
|
0.00004
|
|
NM_001384474.1(LOXHD1):c.1432-9T>C
|
rs1197933940
|
0.00004
|
|
NM_001384479.1(AGT):c.264C>T (p.Thr88=)
|
rs11557884
|
0.00004
|
|
NM_001384732.1(CPLANE1):c.6027G>T (p.Leu2009=)
|
rs772082205
|
0.00004
|
|
NM_001384732.1(CPLANE1):c.7080G>A (p.Pro2360=)
|
rs769298457
|
0.00004
|
|
NM_001384732.1(CPLANE1):c.7578C>T (p.Asp2526=)
|
rs561079089
|
0.00004
|
|
NM_001384732.1(CPLANE1):c.7589-12A>C
|
rs767934439
|
0.00004
|
|
NM_001384732.1(CPLANE1):c.8120-6A>G
|
rs373606578
|
0.00004
|
|
NM_001386393.1(PANK2):c.291G>A (p.Lys97=)
|
rs764439399
|
0.00004
|
|
NM_001395656.1(ROBO2):c.171G>T (p.Arg57=)
|
rs752240818
|
0.00004
|
|
NM_001395656.1(ROBO2):c.1861+15T>C
|
rs770007839
|
0.00004
|
|
NM_001395656.1(ROBO2):c.2738+9C>T
|
rs573265362
|
0.00004
|
|
NM_001395656.1(ROBO2):c.4293T>G (p.Ser1431=)
|
rs758687620
|
0.00004
|
|
NM_001458.5(FLNC):c.4650C>T (p.Asn1550=)
|
rs547733871
|
0.00004
|
|
NM_001481.3(GAS8):c.900C>T (p.Tyr300=)
|
rs140624161
|
0.00004
|
|
NM_001482.3(GATM):c.979-19G>T
|
rs575171738
|
0.00004
|
|
NM_001680.5(FXYD2):c.90C>T (p.Gly30=)
|
rs373687268
|
0.00004
|
|
NM_001715.3(BLK):c.465C>G (p.Thr155=)
|
rs375035401
|
0.00004
|
|
NM_001735.3(C5):c.441G>A (p.Ser147=)
|
rs376535022
|
0.00004
|
|
NM_001754.5(RUNX1):c.1338C>T (p.Leu446=)
|
rs769628054
|
0.00004
|
|
NM_001830.4(CLCN4):c.1175A>G (p.Gln392Arg)
|
rs761118786
|
0.00004
|
|
NM_001844.5(COL2A1):c.4014C>T (p.Ser1338=)
|
rs939449148
|
0.00004
|
|
NM_001845.6(COL4A1):c.2704C>T (p.Pro902Ser)
|
rs779350720
|
0.00004
|
|
NM_001845.6(COL4A1):c.3216G>A (p.Ala1072=)
|
rs188620231
|
0.00004
|
|
NM_001957.4(EDNRA):c.1110T>C (p.Tyr370=)
|
rs2292764
|
0.00004
|
|
NM_002067.5(GNA11):c.912G>A (p.Ala304=)
|
rs145170690
|
0.00004
|
|
NM_002067.5(GNA11):c.915G>A (p.Ala305=)
|
rs750757769
|
0.00004
|
|
NM_002230.4(JUP):c.522G>A (p.Ala174=)
|
rs782745301
|
0.00004
|
|
NM_002241.5(KCNJ10):c.1137C>G (p.Val379=)
|
rs372774976
|
0.00004
|
|
NM_002246.3(KCNK3):c.309G>T (p.Thr103=)
|
rs199957242
|
0.00004
|
|
NM_002292.4(LAMB2):c.3826C>T (p.Leu1276=)
|
rs754393937
|
0.00004
|
|
NM_002294.3(LAMP2):c.299C>T (p.Ala100Val)
|
rs397516741
|
0.00004
|
|
NM_002334.4(LRP4):c.5088-20C>T
|
rs370004451
|
0.00004
|
|
NM_002335.4(LRP5):c.1563C>T (p.Asp521=)
|
rs750457614
|
0.00004
|
|
NM_002335.4(LRP5):c.3018C>T (p.Asp1006=)
|
rs146792434
|
0.00004
|
|
NM_002335.4(LRP5):c.3453C>T (p.Asp1151=)
|
rs147175387
|
0.00004
|
|
NM_002335.4(LRP5):c.3852C>T (p.Pro1284=)
|
rs144115017
|
0.00004
|
|
NM_002335.4(LRP5):c.489-7G>A
|
rs560234502
|
0.00004
|
|
NM_002335.4(LRP5):c.91+9G>C
|
rs569517144
|
0.00004
|
|
NM_002335.4(LRP5):c.924C>T (p.His308=)
|
rs756215440
|
0.00004
|
|
NM_002354.3(EPCAM):c.342C>T (p.Ser114=)
|
rs200495968
|
0.00004
|
|
NM_002473.6(MYH9):c.1686G>A (p.Leu562=)
|
rs199506577
|
0.00004
|
|
NM_002473.6(MYH9):c.2838+19C>T
|
rs199611979
|
0.00004
|
|
NM_002661.5(PLCG2):c.1073-17C>T
|
rs572040225
|
0.00004
|
|
NM_002661.5(PLCG2):c.1558-4C>A
|
rs1325379831
|
0.00004
|
|
NM_002661.5(PLCG2):c.183C>T (p.Ile61=)
|
rs553657822
|
0.00004
|
|
NM_002661.5(PLCG2):c.2055-20C>A
|
rs563045009
|
0.00004
|
|
NM_002661.5(PLCG2):c.2301G>A (p.Pro767=)
|
rs374390386
|
0.00004
|
|
NM_002661.5(PLCG2):c.2496C>T (p.Phe832=)
|
rs766166854
|
0.00004
|
|
NM_002661.5(PLCG2):c.3420T>C (p.Asp1140=)
|
rs746749620
|
0.00004
|
|
NM_002661.5(PLCG2):c.3492C>T (p.Ser1164=)
|
rs187113357
|
0.00004
|
|
NM_002834.5(PTPN11):c.14+11C>A
|
rs1486505121
|
0.00004
|
|
NM_002880.4(RAF1):c.435G>A (p.Thr145=)
|
rs371565419
|
0.00004
|
|
NM_002968.3(SALL1):c.2565T>G (p.Pro855=)
|
rs778734691
|
0.00004
|
|
NM_002968.3(SALL1):c.3231C>T (p.Pro1077=)
|
rs148808830
|
0.00004
|
|
NM_003052.5(SLC34A1):c.1698C>T (p.Pro566=)
|
rs377213972
|
0.00004
|
|
NM_003060.4(SLC22A5):c.1587-15T>A
|
rs762259659
|
0.00004
|
|
NM_003072.5(SMARCA4):c.3552G>A (p.Leu1184=)
|
rs368250779
|
0.00004
|
|
NM_003361.4(UMOD):c.1362C>A (p.Gly454=)
|
rs770875763
|
0.00004
|
|
NM_003392.7(WNT5A):c.6+18T>A
|
rs192224802
|
0.00004
|
|
NM_003482.4(KMT2D):c.14574G>A (p.Lys4858=)
|
rs562830182
|
0.00004
|
|
NM_003611.3(OFD1):c.494C>T (p.Ser165Leu)
|
rs756793358
|
0.00004
|
|
NM_003640.5(ELP1):c.1536C>T (p.Asp512=)
|
rs751808911
|
0.00004
|
|
NM_003640.5(ELP1):c.3456T>C (p.Gly1152=)
|
rs746303238
|
0.00004
|
|
NM_003640.5(ELP1):c.3932-18T>G
|
rs767184876
|
0.00004
|
|
NM_003640.5(ELP1):c.865-9C>T
|
rs748084965
|
0.00004
|
|
NM_003640.5(ELP1):c.958+20C>T
|
rs370413742
|
0.00004
|
|
NM_003661.4(APOL1):c.837T>C (p.Ile279=)
|
rs371302335
|
0.00004
|
|
NM_003673.4(TCAP):c.54G>C (p.Arg18=)
|
rs754054712
|
0.00004
|
|
NM_003906.5(MCM3AP):c.5373G>A (p.Ser1791=)
|
rs549733036
|
0.00004
|
|
NM_003982.4(SLC7A7):c.1362G>C (p.Leu454=)
|
rs143853134
|
0.00004
|
|
NM_003982.4(SLC7A7):c.591G>T (p.Ala197=)
|
rs750720946
|
0.00004
|
|
NM_004006.3(DMD):c.1742C>T (p.Ala581Val)
|
rs763155705
|
0.00004
|
|
NM_004069.6(AP2S1):c.111C>T (p.Ala37=)
|
rs368988346
|
0.00004
|
|
NM_004069.6(AP2S1):c.387G>A (p.Thr129=)
|
rs762267195
|
0.00004
|
|
NM_004252.5(NHERF1):c.252C>T (p.Asn84=)
|
rs781350887
|
0.00004
|
|
NM_004287.5(GOSR2):c.111C>T (p.Ile37=)
|
rs755662176
|
0.00004
|
|
NM_004333.6(BRAF):c.915G>A (p.Ala305=)
|
rs145675911
|
0.00004
|
|
NM_004357.5(CD151):c.276+11C>T
|
rs770882120
|
0.00004
|
|
NM_004360.5(CDH1):c.84C>T (p.Cys28=)
|
rs587780789
|
0.00004
|
|
NM_004366.6(CLCN2):c.1958G>C (p.Arg653Thr)
|
rs568335048
|
0.00004
|
|
NM_004366.6(CLCN2):c.2143+8C>T
|
rs752854427
|
0.00004
|
|
NM_004370.6(COL12A1):c.5340G>A (p.Val1780=)
|
rs371016672
|
0.00004
|
|
NM_004370.6(COL12A1):c.6345A>G (p.Gly2115=)
|
rs553575841
|
0.00004
|
|
NM_004380.3(CREBBP):c.3060+9C>T
|
rs372291994
|
0.00004
|
|
NM_004380.3(CREBBP):c.6795G>A (p.Ala2265=)
|
rs748072121
|
0.00004
|
|
NM_004380.3(CREBBP):c.7236G>A (p.Leu2412=)
|
rs745992971
|
0.00004
|
|
NM_004385.5(VCAN):c.7626T>C (p.Asn2542=)
|
rs751601623
|
0.00004
|
|
NM_004415.4(DSP):c.1443G>A (p.Glu481=)
|
rs149126992
|
0.00004
|
|
NM_004484.4(GPC3):c.648G>C (p.Met216Ile)
|
rs752516966
|
0.00004
|
|
NM_004484.4(GPC3):c.972T>C (p.Phe324=)
|
rs183678432
|
0.00004
|
|
NM_004525.3(LRP2):c.10572-13G>A
|
rs372963344
|
0.00004
|
|
NM_004525.3(LRP2):c.11635+17C>T
|
rs199625884
|
0.00004
|
|
NM_004525.3(LRP2):c.11850C>T (p.Ala3950=)
|
rs765289317
|
0.00004
|
|
NM_004525.3(LRP2):c.13268-14A>G
|
rs199622240
|
0.00004
|
|
NM_004525.3(LRP2):c.13305C>T (p.Val4435=)
|
rs375801132
|
0.00004
|
|
NM_004525.3(LRP2):c.3312C>T (p.His1104=)
|
rs188152163
|
0.00004
|
|
NM_004525.3(LRP2):c.378G>A (p.Arg126=)
|
rs753521481
|
0.00004
|
|
NM_004560.4(ROR2):c.1998C>T (p.Tyr666=)
|
rs773389306
|
0.00004
|
|
NM_004560.4(ROR2):c.2724C>T (p.Thr908=)
|
rs374824850
|
0.00004
|
|
NM_004560.4(ROR2):c.888C>T (p.Asp296=)
|
rs755825636
|
0.00004
|
|
NM_004562.3(PRKN):c.219G>A (p.Pro73=)
|
rs139083077
|
0.00004
|
|
NM_004562.3(PRKN):c.276G>A (p.Ala92=)
|
rs200256562
|
0.00004
|
|
NM_004629.2(FANCG):c.77A>G (p.Gln26Arg)
|
rs200677800
|
0.00004
|
|
NM_004629.2(FANCG):c.795A>T (p.Ala265=)
|
rs537570311
|
0.00004
|
|
NM_004646.4(NPHS1):c.1998G>T (p.Leu666=)
|
rs569310327
|
0.00004
|
|
NM_004752.4(GCM2):c.318C>T (p.Cys106=)
|
rs749600723
|
0.00004
|
|
NM_004836.7(EIF2AK3):c.447G>A (p.Gly149=)
|
rs376595842
|
0.00004
|
|
NM_004836.7(EIF2AK3):c.615C>A (p.Leu205=)
|
rs757760327
|
0.00004
|
|
NM_004924.6(ACTN4):c.1458C>T (p.Tyr486=)
|
rs372458891
|
0.00004
|
|
NM_004924.6(ACTN4):c.1806C>T (p.His602=)
|
rs749089376
|
0.00004
|
|
NM_004924.6(ACTN4):c.2526G>A (p.Thr842=)
|
rs375763862
|
0.00004
|
|
NM_004937.3(CTNS):c.1035C>T (p.Phe345=)
|
rs149007536
|
0.00004
|
|
NM_004937.3(CTNS):c.1038C>T (p.Asp346=)
|
rs771450572
|
0.00004
|
|
NM_004937.3(CTNS):c.562-16C>T
|
rs776712980
|
0.00004
|
|
NM_004944.4(DNASE1L3):c.360T>C (p.His120=)
|
rs146555960
|
0.00004
|
|
NM_004985.5(KRAS):c.451-5652C>T
|
rs727505314
|
0.00004
|
|
NM_004998.4(MYO1E):c.1275+12C>G
|
rs373603961
|
0.00004
|
|
NM_004998.4(MYO1E):c.3060C>T (p.Val1020=)
|
rs140388346
|
0.00004
|
|
NM_005236.3(ERCC4):c.1830C>T (p.Tyr610=)
|
rs763332387
|
0.00004
|
|
NM_005343.4(HRAS):c.520C>T (p.Pro174Ser)
|
rs397517144
|
0.00004
|
|
NM_005506.4(SCARB2):c.1089T>C (p.His363=)
|
rs753197792
|
0.00004
|
|
NM_005506.4(SCARB2):c.522C>T (p.Asp174=)
|
rs375051752
|
0.00004
|
|
NM_005506.4(SCARB2):c.93G>A (p.Lys31=)
|
rs558215488
|
0.00004
|
|
NM_005566.4(LDHA):c.951G>A (p.Lys317=)
|
rs145889467
|
0.00004
|
|
NM_005633.4(SOS1):c.1490G>A (p.Arg497Gln)
|
rs371314838
|
0.00004
|
|
NM_005633.4(SOS1):c.1905C>T (p.Cys635=)
|
rs762900789
|
0.00004
|
|
NM_005687.5(FARSB):c.1618+17G>A
|
rs369727146
|
0.00004
|
|
NM_005732.4(RAD50):c.1602A>G (p.Thr534=)
|
rs150348197
|
0.00004
|
|
NM_005857.5(ZMPSTE24):c.1338T>C (p.Pro446=)
|
rs370202496
|
0.00004
|
|
NM_005982.4(SIX1):c.816C>T (p.Leu272=)
|
rs750377629
|
0.00004
|
|
NM_006005.3(WFS1):c.1320C>T (p.Thr440=)
|
rs762339922
|
0.00004
|
|
NM_006005.3(WFS1):c.1929C>T (p.Ile643=)
|
rs544473222
|
0.00004
|
|
NM_006005.3(WFS1):c.2118C>T (p.Tyr706=)
|
rs375408391
|
0.00004
|
|
NM_006005.3(WFS1):c.2349C>T (p.Phe783=)
|
rs759746525
|
0.00004
|
|
NM_006005.3(WFS1):c.2520C>T (p.Phe840=)
|
rs777254962
|
0.00004
|
|
NM_006005.3(WFS1):c.2607C>T (p.Ser869=)
|
rs1410561677
|
0.00004
|
|
NM_006231.4(POLE):c.720+16T>C
|
rs200320553
|
0.00004
|
|
NM_006306.4(SMC1A):c.109+13T>G
|
rs782668468
|
0.00004
|
|
NM_006306.4(SMC1A):c.854+17G>A
|
rs781860125
|
0.00004
|
|
NM_006412.4(AGPAT2):c.24C>G (p.Ala8=)
|
rs987053838
|
0.00004
|
|
NM_006412.4(AGPAT2):c.273C>G (p.Pro91=)
|
rs548976674
|
0.00004
|
|
NM_006662.3(SRCAP):c.1350G>A (p.Gln450=)
|
rs146916680
|
0.00004
|
|
NM_006662.3(SRCAP):c.2559C>T (p.Tyr853=)
|
rs769009513
|
0.00004
|
|
NM_006662.3(SRCAP):c.4680G>A (p.Pro1560=)
|
rs146141702
|
0.00004
|
|
NM_006662.3(SRCAP):c.8535C>T (p.Asp2845=)
|
rs778040460
|
0.00004
|
|
NM_006662.3(SRCAP):c.8958T>C (p.Thr2986=)
|
rs368889629
|
0.00004
|
|
NM_006941.4(SOX10):c.975C>T (p.Ala325=)
|
rs760496644
|
0.00004
|
|
NM_007194.4(CHEK2):c.847-10C>G
|
rs745745105
|
0.00004
|
|
NM_007214.5(SEC63):c.453-11T>C
|
rs374073392
|
0.00004
|
|
NM_007294.4(BRCA1):c.-19-3A>G
|
rs273898669
|
0.00004
|
|
NM_007294.4(BRCA1):c.2286A>T (p.Arg762Ser)
|
rs273898682
|
0.00004
|
|
NM_007294.4(BRCA1):c.427G>A (p.Glu143Lys)
|
rs80356991
|
0.00004
|
|
NM_007373.4(SHOC2):c.10A>C (p.Ser4Arg)
|
rs397517231
|
0.00004
|
|
NM_012210.4(TRIM32):c.1609C>T (p.Leu537=)
|
rs139275673
|
0.00004
|
|
NM_012210.4(TRIM32):c.1623G>A (p.Gln541=)
|
rs201083322
|
0.00004
|
|
NM_012330.4(KAT6B):c.3216A>G (p.Glu1072=)
|
rs776709807
|
0.00004
|
|
NM_012330.4(KAT6B):c.6153C>T (p.Pro2051=)
|
rs544887456
|
0.00004
|
|
NM_014009.4(FOXP3):c.1295G>A (p.Ter432=)
|
rs782112916
|
0.00004
|
|
NM_014009.4(FOXP3):c.895C>T (p.Arg299Trp)
|
rs200928046
|
0.00004
|
|
NM_014014.5(SNRNP200):c.4377C>T (p.Ile1459=)
|
rs191438128
|
0.00004
|
|
NM_014140.4(SMARCAL1):c.1908G>A (p.Leu636=)
|
rs375844575
|
0.00004
|
|
NM_014140.4(SMARCAL1):c.732C>T (p.Asn244=)
|
rs201962302
|
0.00004
|
|
NM_014317.5(PDSS1):c.987C>T (p.Leu329=)
|
rs769755433
|
0.00004
|
|
NM_014425.5(INVS):c.1465-15T>G
|
rs772436028
|
0.00004
|
|
NM_014425.5(INVS):c.2307G>A (p.Pro769=)
|
rs140706545
|
0.00004
|
|
NM_014714.4(IFT140):c.1653-4G>A
|
rs750603473
|
0.00004
|
|
NM_014714.4(IFT140):c.189G>A (p.Arg63=)
|
rs759832443
|
0.00004
|
|
NM_014714.4(IFT140):c.2400-13C>T
|
rs558510749
|
0.00004
|
|
NM_014714.4(IFT140):c.2433C>T (p.Cys811=)
|
rs756784917
|
0.00004
|
|
NM_014714.4(IFT140):c.291G>A (p.Thr97=)
|
rs774795976
|
0.00004
|
|
NM_014714.4(IFT140):c.3156C>T (p.Asp1052=)
|
rs528573485
|
0.00004
|
|
NM_014714.4(IFT140):c.811-10C>T
|
rs781747985
|
0.00004
|
|
NM_014714.4(IFT140):c.811-19C>T
|
rs568239635
|
0.00004
|
|
NM_014956.5(CEP164):c.1158G>A (p.Leu386=)
|
rs199723361
|
0.00004
|
|
NM_014956.5(CEP164):c.1380G>A (p.Gln460=)
|
rs559473249
|
0.00004
|
|
NM_014956.5(CEP164):c.2379G>A (p.Gln793=)
|
rs190692742
|
0.00004
|
|
NM_014956.5(CEP164):c.2517G>A (p.Lys839=)
|
rs760170526
|
0.00004
|
|
NM_014956.5(CEP164):c.2853C>T (p.Thr951=)
|
rs140641176
|
0.00004
|
|
NM_014956.5(CEP164):c.3012G>T (p.Leu1004=)
|
rs368609037
|
0.00004
|
|
NM_014956.5(CEP164):c.3786C>T (p.His1262=)
|
rs373372717
|
0.00004
|
|
NM_014956.5(CEP164):c.4287-11C>T
|
rs199682751
|
0.00004
|
|
NM_015100.4(POGZ):c.3279A>T (p.Leu1093=)
|
rs567756416
|
0.00004
|
|
NM_015102.5(NPHP4):c.3817-11C>T
|
rs774350462
|
0.00004
|
|
NM_015102.5(NPHP4):c.3984G>A (p.Pro1328=)
|
rs763002637
|
0.00004
|
|
NM_015102.5(NPHP4):c.4167C>T (p.Ile1389=)
|
rs776657788
|
0.00004
|
|
NM_015102.5(NPHP4):c.828C>T (p.Asp276=)
|
rs765113652
|
0.00004
|
|
NM_015141.4(GPD1L):c.367-11C>A
|
rs113202696
|
0.00004
|
|
NM_015272.5(RPGRIP1L):c.1244-18G>A
|
rs923409583
|
0.00004
|
|
NM_015272.5(RPGRIP1L):c.1582-11T>G
|
rs182981308
|
0.00004
|
|
NM_015338.6(ASXL1):c.3621C>G (p.Val1207=)
|
rs781523302
|
0.00004
|
|
NM_015443.4(KANSL1):c.2414T>C (p.Met805Thr)
|
rs201526313
|
0.00004
|
|
NM_015443.4(KANSL1):c.2985G>A (p.Pro995=)
|
rs371484505
|
0.00004
|
|
NM_015506.3(MMACHC):c.402T>C (p.Asp134=)
|
rs774024065
|
0.00004
|
|
NM_015506.3(MMACHC):c.700T>C (p.Leu234=)
|
rs199964843
|
0.00004
|
|
NM_015512.5(DNAH1):c.1969C>G (p.Pro657Ala)
|
rs199996069
|
0.00004
|
|
NM_015662.3(IFT172):c.3549T>C (p.Asp1183=)
|
rs566100277
|
0.00004
|
|
NM_016335.6(PRODH):c.518-11C>T
|
rs112526442
|
0.00004
|
|
NM_016360.4(TACO1):c.66C>T (p.Pro22=)
|
rs1008008624
|
0.00004
|
|
NM_017570.5(OPLAH):c.2512-6C>T
|
rs532077880
|
0.00004
|
|
NM_017617.5(NOTCH1):c.5724C>T (p.Ala1908=)
|
rs555773558
|
0.00004
|
|
NM_017617.5(NOTCH1):c.7386C>T (p.Pro2462=)
|
rs369470875
|
0.00004
|
|
NM_017662.5(TRPM6):c.1207+18G>A
|
rs371897441
|
0.00004
|
|
NM_017662.5(TRPM6):c.2118C>T (p.Thr706=)
|
rs149238868
|
0.00004
|
|
NM_017662.5(TRPM6):c.2478G>A (p.Pro826=)
|
rs375316759
|
0.00004
|
|
NM_017780.4(CHD7):c.2097-9G>C
|
rs759100071
|
0.00004
|
|
NM_017780.4(CHD7):c.3378+18T>C
|
rs141625014
|
0.00004
|
|
NM_017780.4(CHD7):c.409T>G (p.Ser137Ala)
|
rs183761594
|
0.00004
|
|
NM_017780.4(CHD7):c.5029C>A (p.Arg1677=)
|
rs777652245
|
0.00004
|
|
NM_017780.4(CHD7):c.5665+11A>G
|
rs765928233
|
0.00004
|
|
NM_017909.4(RMND1):c.1077A>G (p.Leu359=)
|
rs766598526
|
0.00004
|
|
NM_018062.4(FANCL):c.375-15T>C
|
rs767038810
|
0.00004
|
|
NM_018062.4(FANCL):c.755T>G (p.Phe252Cys)
|
rs139801716
|
0.00004
|
|
NM_018417.6(ADCY10):c.1742G>A (p.Arg581Gln)
|
rs377634034
|
0.00004
|
|
NM_018979.4(WNK1):c.3663+8C>G
|
rs1048572799
|
0.00004
|
|
NM_018979.4(WNK1):c.4947T>C (p.Ile1649=)
|
rs758667627
|
0.00004
|
|
NM_018979.4(WNK1):c.522C>T (p.Ser174=)
|
rs536592144
|
0.00004
|
|
NM_018979.4(WNK1):c.5493A>T (p.Thr1831=)
|
rs202024020
|
0.00004
|
|
NM_018979.4(WNK1):c.6831+18C>T
|
rs201628002
|
0.00004
|
|
NM_018993.4(RIN2):c.159-17G>A
|
rs372254069
|
0.00004
|
|
NM_019109.5(ALG1):c.309C>T (p.Tyr103=)
|
rs199553558
|
0.00004
|
|
NM_019109.5(ALG1):c.639C>T (p.Thr213=)
|
rs753164786
|
0.00004
|
|
NM_019109.5(ALG1):c.654C>T (p.Pro218=)
|
rs375422039
|
0.00004
|
|
NM_019109.5(ALG1):c.741-13T>C
|
rs368398266
|
0.00004
|
|
NM_020041.3(SLC2A9):c.909C>T (p.Ser303=)
|
rs371313593
|
0.00004
|
|
NM_020436.5(SALL4):c.2385C>T (p.Ala795=)
|
rs142446452
|
0.00004
|
|
NM_020762.4(SRGAP1):c.2225-7G>A
|
rs375559876
|
0.00004
|
|
NM_020921.4(NIN):c.5138T>C (p.Leu1713Pro)
|
rs558920997
|
0.00004
|
|
NM_020937.4(FANCM):c.1752G>A (p.Arg584=)
|
rs373696744
|
0.00004
|
|
NM_020937.4(FANCM):c.231C>T (p.Thr77=)
|
rs377164876
|
0.00004
|
|
NM_020937.4(FANCM):c.3882T>C (p.Val1294=)
|
rs774984454
|
0.00004
|
|
NM_020975.6(RET):c.2124C>T (p.Ala708=)
|
rs749646777
|
0.00004
|
|
NM_020975.6(RET):c.2427C>T (p.Tyr809=)
|
rs577929869
|
0.00004
|
|
NM_020975.6(RET):c.2790G>A (p.Thr930=)
|
rs746599792
|
0.00004
|
|
NM_020975.6(RET):c.79T>C (p.Leu27=)
|
rs377160777
|
0.00004
|
|
NM_021098.3(CACNA1H):c.1035C>T (p.Asn345=)
|
rs751812661
|
0.00004
|
|
NM_021098.3(CACNA1H):c.1665G>A (p.Ala555=)
|
rs753841406
|
0.00004
|
|
NM_021098.3(CACNA1H):c.2318G>A (p.Gly773Asp)
|
rs267606697
|
0.00004
|
|
NM_021098.3(CACNA1H):c.2568G>A (p.Pro856=)
|
rs372206587
|
0.00004
|
|
NM_021098.3(CACNA1H):c.2778T>C (p.Ile926=)
|
rs745368829
|
0.00004
|
|
NM_021098.3(CACNA1H):c.2892C>T (p.Ile964=)
|
rs769118582
|
0.00004
|
|
NM_021098.3(CACNA1H):c.3636C>A (p.Thr1212=)
|
rs767435491
|
0.00004
|
|
NM_021098.3(CACNA1H):c.4224-7C>T
|
rs768524941
|
0.00004
|
|
NM_021098.3(CACNA1H):c.5664C>T (p.Pro1888=)
|
rs761380706
|
0.00004
|
|
NM_021098.3(CACNA1H):c.6049-11C>T
|
rs764862065
|
0.00004
|
|
NM_021098.3(CACNA1H):c.6360C>T (p.Pro2120=)
|
rs369048631
|
0.00004
|
|
NM_021098.3(CACNA1H):c.6633C>T (p.Gly2211=)
|
rs1362184958
|
0.00004
|
|
NM_021098.3(CACNA1H):c.6663G>A (p.Pro2221=)
|
rs368014968
|
0.00004
|
|
NM_021957.4(GYS2):c.1128C>T (p.Asn376=)
|
rs139043251
|
0.00004
|
|
NM_022042.4(SLC26A1):c.1557G>A (p.Thr519=)
|
rs146711224
|
0.00004
|
|
NM_022042.4(SLC26A1):c.1854G>A (p.Pro618=)
|
rs748205966
|
0.00004
|
|
NM_022132.5(MCCC2):c.1674C>T (p.Phe558=)
|
rs768354167
|
0.00004
|
|
NM_022455.5(NSD1):c.7852G>A (p.Val2618Ile)
|
rs373787813
|
0.00004
|
|
NM_022489.4(INF2):c.1293T>C (p.Pro431=)
|
rs758725838
|
0.00004
|
|
NM_022489.4(INF2):c.1725C>T (p.Asn575=)
|
rs368235032
|
0.00004
|
|
NM_022489.4(INF2):c.2184C>T (p.Ala728=)
|
rs564499884
|
0.00004
|
|
NM_022489.4(INF2):c.2240-5T>C
|
rs765264633
|
0.00004
|
|
NM_022489.4(INF2):c.510G>A (p.Thr170=)
|
rs750711173
|
0.00004
|
|
NM_023110.3(FGFR1):c.621+7G>T
|
rs377200873
|
0.00004
|
|
NM_023110.3(FGFR1):c.92-14C>T
|
rs547772178
|
0.00004
|
|
NM_024334.3(TMEM43):c.402C>T (p.Thr134=)
|
rs370422391
|
0.00004
|
|
NM_024408.4(NOTCH2):c.1109-12A>C
|
rs782601589
|
0.00004
|
|
NM_024408.4(NOTCH2):c.1158G>A (p.Lys386=)
|
rs781863099
|
0.00004
|
|
NM_024408.4(NOTCH2):c.5217T>C (p.Asn1739=)
|
rs768669808
|
0.00004
|
|
NM_024426.6(WT1):c.1016+15C>T
|
rs752756426
|
0.00004
|
|
NM_024649.5(BBS1):c.1474-14C>T
|
rs369972079
|
0.00004
|
|
NM_024675.4(PALB2):c.2834+13C>A
|
rs551516577
|
0.00004
|
|
NM_024675.4(PALB2):c.3252G>A (p.Ser1084=)
|
rs141570833
|
0.00004
|
|
NM_024675.4(PALB2):c.900A>G (p.Thr300=)
|
rs771660444
|
0.00004
|
|
NM_024685.4(BBS10):c.197+13C>G
|
rs758349250
|
0.00004
|
|
NM_024753.5(TTC21B):c.2272T>C (p.Leu758=)
|
rs111228450
|
0.00004
|
|
NM_024753.5(TTC21B):c.2580A>G (p.Leu860=)
|
rs201563244
|
0.00004
|
|
NM_025074.7(FRAS1):c.7431G>A (p.Ala2477=)
|
rs750729569
|
0.00004
|
|
NM_025074.7(FRAS1):c.8397G>A (p.Ser2799=)
|
rs113839220
|
0.00004
|
|
NM_025114.4(CEP290):c.4809T>C (p.Ala1603=)
|
rs372592245
|
0.00004
|
|
NM_025114.4(CEP290):c.609C>T (p.Asp203=)
|
rs767725492
|
0.00004
|
|
NM_025114.4(CEP290):c.6271-15C>T
|
rs764251517
|
0.00004
|
|
NM_025132.4(WDR19):c.1962A>G (p.Ala654=)
|
rs770818331
|
0.00004
|
|
NM_025132.4(WDR19):c.2607C>T (p.Tyr869=)
|
rs371645967
|
0.00004
|
|
NM_025132.4(WDR19):c.2742T>C (p.Ala914=)
|
rs753812144
|
0.00004
|
|
NM_030777.4(SLC2A10):c.924C>T (p.Ala308=)
|
rs377173165
|
0.00004
|
|
NM_030787.4(CFHR5):c.846G>A (p.Pro282=)
|
rs754917131
|
0.00004
|
|
NM_030943.4(AMN):c.1176G>A (p.Arg392=)
|
rs1052377523
|
0.00004
|
|
NM_031220.4(PITPNM3):c.1086-5C>T
|
rs775491788
|
0.00004
|
|
NM_032387.5(WNK4):c.1743G>A (p.Ser581=)
|
rs754495845
|
0.00004
|
|
NM_032387.5(WNK4):c.924C>T (p.Val308=)
|
rs779031905
|
0.00004
|
|
NM_032444.4(SLX4):c.1764C>T (p.His588=)
|
rs201638593
|
0.00004
|
|
NM_032444.4(SLX4):c.1824G>A (p.Glu608=)
|
rs1028896815
|
0.00004
|
|
NM_032444.4(SLX4):c.4456A>C (p.Arg1486=)
|
rs200536796
|
0.00004
|
|
NM_032444.4(SLX4):c.4740-5G>A
|
rs372656323
|
0.00004
|
|
NM_032444.4(SLX4):c.5382G>A (p.Ser1794=)
|
rs368848191
|
0.00004
|
|
NM_032578.4(MYPN):c.2565-7C>T
|
rs373241021
|
0.00004
|
|
NM_033004.4(NLRP1):c.3228C>T (p.Asp1076=)
|
rs139890811
|
0.00004
|
|
NM_033028.5(BBS4):c.1311C>G (p.Thr437=)
|
rs945847885
|
0.00004
|
|
NM_033028.5(BBS4):c.501C>T (p.His167=)
|
rs745789574
|
0.00004
|
|
NM_033028.5(BBS4):c.712-14T>A
|
rs375598833
|
0.00004
|
|
NM_033380.3(COL4A5):c.3993C>T (p.Leu1331=)
|
rs751858178
|
0.00004
|
|
NM_052989.3(IFT122):c.2895G>A (p.Pro965=)
|
rs771092154
|
0.00004
|
|
NM_052989.3(IFT122):c.2904C>T (p.Val968=)
|
rs140575442
|
0.00004
|
|
NM_053025.4(MYLK):c.2652G>A (p.Glu884=)
|
rs1314650520
|
0.00004
|
|
NM_057176.3(BSND):c.411G>A (p.Gly137=)
|
rs758111009
|
0.00004
|
|
NM_058216.3(RAD51C):c.1062A>G (p.Ala354=)
|
rs201000407
|
0.00004
|
|
NM_058216.3(RAD51C):c.546T>G (p.Leu182=)
|
rs1476282276
|
0.00004
|
|
NM_080425.4(GNAS):c.958G>A (p.Asp320Asn)
|
rs201342585
|
0.00004
|
|
NM_080680.3(COL11A2):c.2737-4C>T
|
rs1322401943
|
0.00004
|
|
NM_133259.4(LRPPRC):c.2904C>T (p.Asn968=)
|
rs1052539943
|
0.00004
|
|
NM_138413.4(HOGA1):c.720C>T (p.Cys240=)
|
rs183301169
|
0.00004
|
|
NM_138694.4(PKHD1):c.10983G>A (p.Val3661=)
|
rs754613918
|
0.00004
|
|
NM_138694.4(PKHD1):c.2538C>T (p.His846=)
|
rs775356491
|
0.00004
|
|
NM_138694.4(PKHD1):c.5958C>T (p.His1986=)
|
rs745388926
|
0.00004
|
|
NM_138694.4(PKHD1):c.630T>G (p.Leu210=)
|
rs950789431
|
0.00004
|
|
NM_138694.4(PKHD1):c.6798G>A (p.Ala2266=)
|
rs747038764
|
0.00004
|
|
NM_138694.4(PKHD1):c.8286C>T (p.Asp2762=)
|
rs749740610
|
0.00004
|
|
NM_144585.4(SLC22A12):c.12T>C (p.Ser4=)
|
rs138704367
|
0.00004
|
|
NM_144997.7(FLCN):c.1068G>T (p.Leu356=)
|
rs534904034
|
0.00004
|
|
NM_144997.7(FLCN):c.645C>T (p.Cys215=)
|
rs772360950
|
0.00004
|
|
NM_153240.5(NPHP3):c.3399C>T (p.Asp1133=)
|
rs766231228
|
0.00004
|
|
NM_170707.4(LMNA):c.1299C>T (p.His433=)
|
rs61217436
|
0.00004
|
|
NM_172107.4(KCNQ2):c.691-14C>T
|
rs200448016
|
0.00004
|
|
NM_172201.2(KCNE2):c.228A>G (p.Arg76=)
|
rs202169020
|
0.00004
|
|
NM_173628.4(DNAH17):c.11679A>G (p.Gly3893=)
|
rs573132649
|
0.00004
|
|
NM_175875.5(SIX5):c.15T>G (p.Pro5=)
|
rs1366167968
|
0.00004
|
|
NM_175914.5(HNF4A):c.1026C>T (p.Ala342=)
|
rs751892618
|
0.00004
|
|
NM_175914.5(HNF4A):c.468G>A (p.Ala156=)
|
rs758124162
|
0.00004
|
|
NM_176824.3(BBS7):c.1806C>G (p.Val602=)
|
rs752970955
|
0.00004
|
|
NM_182914.3(SYNE2):c.12492+12C>T
|
rs368374335
|
0.00004
|
|
NM_198252.3(GSN):c.1416+17G>A
|
rs747631468
|
0.00004
|
|
NM_198252.3(GSN):c.754-8C>T
|
rs757725237
|
0.00004
|
|
NM_198252.3(GSN):c.886+10A>G
|
rs768148669
|
0.00004
|
|
NM_198334.3(GANAB):c.2512-13A>G
|
rs376460143
|
0.00004
|
|
NM_198428.3(BBS9):c.1198+13C>T
|
rs753894974
|
0.00004
|
|
NM_198428.3(BBS9):c.1276-17C>T
|
rs199758277
|
0.00004
|
|
NM_212482.4(FN1):c.247C>A (p.Arg83=)
|
rs780120577
|
0.00004
|
|
NM_212482.4(FN1):c.4559T>G (p.Val1520Gly)
|
rs370343584
|
0.00004
|
|
NM_212482.4(FN1):c.6066C>T (p.Thr2022=)
|
rs144324514
|
0.00004
|
|
NM_213655.5(WNK1):c.3267G>A (p.Leu1089=)
|
rs374001403
|
0.00004
|
|
NM_000030.3(AGXT):c.423+12G>A
|
rs574091775
|
0.00003
|
|
NM_000039.3(APOA1):c.483G>C (p.Leu161=)
|
rs747245248
|
0.00003
|
|
NM_000041.4(APOE):c.249C>T (p.Asp83=)
|
rs767980905
|
0.00003
|
|
NM_000052.7(ATP7A):c.2111A>G (p.Gln704Arg)
|
rs782577253
|
0.00003
|
|
NM_000053.4(ATP7B):c.2298G>A (p.Thr766=)
|
rs759444110
|
0.00003
|
|
NM_000053.4(ATP7B):c.3576C>T (p.Ile1192=)
|
rs774584291
|
0.00003
|
|
NM_000053.4(ATP7B):c.3645C>T (p.Asp1215=)
|
rs763228636
|
0.00003
|
|
NM_000053.4(ATP7B):c.993C>T (p.Ala331=)
|
rs377294197
|
0.00003
|
|
NM_000059.4(BRCA2):c.6935A>T (p.Asp2312Val)
|
rs80358916
|
0.00003
|
|
NM_000064.4(C3):c.3702C>T (p.Ser1234=)
|
rs754607975
|
0.00003
|
|
NM_000064.4(C3):c.4350+7C>A
|
rs148695501
|
0.00003
|
|
NM_000064.4(C3):c.4457-13C>T
|
rs375382978
|
0.00003
|
|
NM_000064.4(C3):c.4546+18G>A
|
rs377076572
|
0.00003
|
|
NM_000067.3(CA2):c.648C>T (p.Ser216=)
|
rs376387073
|
0.00003
|
|
NM_000069.3(CACNA1S):c.1383C>G (p.Thr461=)
|
rs144920422
|
0.00003
|
|
NM_000069.3(CACNA1S):c.1393+11A>T
|
rs753604199
|
0.00003
|
|
NM_000069.3(CACNA1S):c.225G>A (p.Pro75=)
|
rs143816534
|
0.00003
|
|
NM_000069.3(CACNA1S):c.2919C>T (p.Tyr973=)
|
rs751043315
|
0.00003
|
|
NM_000069.3(CACNA1S):c.3610-17G>A
|
rs368357562
|
0.00003
|
|
NM_000069.3(CACNA1S):c.3667-5C>T
|
rs368885124
|
0.00003
|
|
NM_000069.3(CACNA1S):c.3890G>A (p.Gly1297Glu)
|
rs749856222
|
0.00003
|
|
NM_000069.3(CACNA1S):c.4032T>C (p.Tyr1344=)
|
rs138167275
|
0.00003
|
|
NM_000069.3(CACNA1S):c.4543+15G>A
|
rs746717103
|
0.00003
|
|
NM_000069.3(CACNA1S):c.915C>T (p.Ile305=)
|
rs376517944
|
0.00003
|
|
NM_000071.3(CBS):c.1146-7C>T
|
rs376749931
|
0.00003
|
|
NM_000085.5(CLCNKB):c.52C>T (p.Leu18=)
|
rs759045664
|
0.00003
|
|
NM_000090.4(COL3A1):c.853-7T>C
|
rs377063305
|
0.00003
|
|
NM_000091.5(COL4A3):c.2489-9C>T
|
rs749574789
|
0.00003
|
|
NM_000091.5(COL4A3):c.714G>A (p.Pro238=)
|
rs555225084
|
0.00003
|
|
NM_000092.5(COL4A4):c.3012G>A (p.Pro1004=)
|
rs778433928
|
0.00003
|
|
NM_000092.5(COL4A4):c.4091-18C>T
|
rs368900542
|
0.00003
|
|
NM_000092.5(COL4A4):c.4098G>A (p.Pro1366=)
|
rs772611085
|
0.00003
|
|
NM_000092.5(COL4A4):c.665C>T (p.Pro222Leu)
|
rs773533313
|
0.00003
|
|
NM_000092.5(COL4A4):c.72-18G>A
|
rs770916599
|
0.00003
|
|
NM_000098.3(CPT2):c.103C>T (p.Leu35=)
|
rs2929073
|
0.00003
|
|
NM_000102.4(CYP17A1):c.831T>C (p.Asn277=)
|
rs1043151688
|
0.00003
|
|
NM_000117.3(EMD):c.399+10C>T
|
rs375654959
|
0.00003
|
|
NM_000128.4(F11):c.1683C>T (p.Ala561=)
|
rs770473069
|
0.00003
|
|
NM_000135.4(FANCA):c.12G>C (p.Ser4=)
|
rs1009539881
|
0.00003
|
|
NM_000135.4(FANCA):c.2964G>C (p.Leu988=)
|
rs751495133
|
0.00003
|
|
NM_000135.4(FANCA):c.3349-19G>T
|
rs377180908
|
0.00003
|
|
NM_000135.4(FANCA):c.3627-9C>T
|
rs547300201
|
0.00003
|
|
NM_000135.4(FANCA):c.426+13C>T
|
rs755598667
|
0.00003
|
|
NM_000136.3(FANCC):c.1330-6G>T
|
rs1223668739
|
0.00003
|
|
NM_000138.5(FBN1):c.2658G>A (p.Pro886=)
|
rs193922192
|
0.00003
|
|
NM_000141.5(FGFR2):c.1086G>A (p.Ala362=)
|
rs151250769
|
0.00003
|
|
NM_000141.5(FGFR2):c.1545C>T (p.Ala515=)
|
rs778789088
|
0.00003
|
|
NM_000155.4(GALT):c.777G>A (p.Arg259=)
|
rs111033761
|
0.00003
|
|
NM_000186.4(CFH):c.2868G>A (p.Thr956=)
|
rs533238588
|
0.00003
|
|
NM_000187.4(HGD):c.477G>A (p.Gln159=)
|
rs1351109217
|
0.00003
|
|
NM_000195.5(HPS1):c.1533-6C>T
|
rs751468611
|
0.00003
|
|
NM_000204.5(CFI):c.1429+8T>C
|
rs184313022
|
0.00003
|
|
NM_000213.5(ITGB4):c.1911G>A (p.Ala637=)
|
rs376183156
|
0.00003
|
|
NM_000214.3(JAG1):c.1797T>C (p.Cys599=)
|
rs746760284
|
0.00003
|
|
NM_000214.3(JAG1):c.2250C>T (p.Pro750=)
|
rs368675736
|
0.00003
|
|
NM_000214.3(JAG1):c.3039T>C (p.His1013=)
|
rs770077297
|
0.00003
|
|
NM_000214.3(JAG1):c.3141G>A (p.Ser1047=)
|
rs202075581
|
0.00003
|
|
NM_000214.3(JAG1):c.819C>T (p.His273=)
|
rs368502056
|
0.00003
|
|
NM_000238.4(KCNH2):c.3153-4C>T
|
rs181119727
|
0.00003
|
|
NM_000243.3(MEFV):c.1179C>T (p.Pro393=)
|
rs104895082
|
0.00003
|
|
NM_000243.3(MEFV):c.1533G>A (p.Ala511=)
|
rs771061550
|
0.00003
|
|
NM_000243.3(MEFV):c.456G>A (p.Gly152=)
|
rs368333568
|
0.00003
|
|
NM_000255.4(MMUT):c.123A>G (p.Pro41=)
|
rs753769272
|
0.00003
|
|
NM_000257.4(MYH7):c.1608G>A (p.Glu536=)
|
rs397516115
|
0.00003
|
|
NM_000257.4(MYH7):c.895+12C>T
|
rs186276057
|
0.00003
|
|
NM_000278.5(PAX2):c.954C>T (p.Tyr318=)
|
rs78122364
|
0.00003
|
|
NM_000281.4(PCBD1):c.228G>A (p.Thr76=)
|
rs778445183
|
0.00003
|
|
NM_000297.4(PKD2):c.2118+19C>T
|
rs777790980
|
0.00003
|
|
NM_000303.3(PMM2):c.24C>G (p.Leu8=)
|
rs751757467
|
0.00003
|
|
NM_000316.3(PTH1R):c.1396-19G>A
|
rs370461607
|
0.00003
|
|
NM_000334.4(SCN4A):c.3318+15G>A
|
rs371928013
|
0.00003
|
|
NM_000334.4(SCN4A):c.4263C>T (p.Phe1421=)
|
rs267604989
|
0.00003
|
|
NM_000334.4(SCN4A):c.4323C>T (p.Phe1441=)
|
rs372442108
|
0.00003
|
|
NM_000334.4(SCN4A):c.5029C>T (p.Leu1677=)
|
rs774089795
|
0.00003
|
|
NM_000334.4(SCN4A):c.5191G>A (p.Ala1731Thr)
|
rs371104286
|
0.00003
|
|
NM_000335.5(SCN5A):c.1557T>C (p.Ser519=)
|
rs371560571
|
0.00003
|
|
NM_000338.3(SLC12A1):c.816T>C (p.Val272=)
|
rs369827965
|
0.00003
|
|
NM_000340.2(SLC2A2):c.109-19A>G
|
rs182772346
|
0.00003
|
|
NM_000342.4(SLC4A1):c.1311G>A (p.Val437=)
|
rs370089486
|
0.00003
|
|
NM_000342.4(SLC4A1):c.876+8A>G
|
rs750432041
|
0.00003
|
|
NM_000352.6(ABCC8):c.603G>A (p.Pro201=)
|
rs765113879
|
0.00003
|
|
NM_000352.6(ABCC8):c.822+7G>A
|
rs765890511
|
0.00003
|
|
NM_000368.5(TSC1):c.1218C>T (p.Tyr406=)
|
rs373465241
|
0.00003
|
|
NM_000368.5(TSC1):c.1334-16C>T
|
rs373774544
|
0.00003
|
|
NM_000368.5(TSC1):c.3129C>T (p.Ser1043=)
|
rs201192125
|
0.00003
|
|
NM_000371.4(TTR):c.-15C>T
|
rs746692906
|
0.00003
|
|
NM_000371.4(TTR):c.70-20C>T
|
rs773578107
|
0.00003
|
|
NM_000376.3(VDR):c.219A>G (p.Arg73=)
|
rs369091846
|
0.00003
|
|
NM_000376.3(VDR):c.897C>T (p.Asp299=)
|
rs746128447
|
0.00003
|
|
NM_000377.3(WAS):c.339C>T (p.Phe113=)
|
rs782233413
|
0.00003
|
|
NM_000379.4(XDH):c.816T>C (p.Asn272=)
|
rs770338067
|
0.00003
|
|
NM_000384.3(APOB):c.1437T>A (p.Thr479=)
|
rs761559174
|
0.00003
|
|
NM_000384.3(APOB):c.2830T>C (p.Leu944=)
|
rs376866376
|
0.00003
|
|
NM_000419.5(ITGA2B):c.2511G>C (p.Gln837His)
|
rs377753373
|
0.00003
|
|
NM_000432.4(MYL2):c.375G>A (p.Thr125=)
|
rs190020833
|
0.00003
|
|
NM_000435.3(NOTCH3):c.4782G>C (p.Ser1594=)
|
rs748774860
|
0.00003
|
|
NM_000439.5(PCSK1):c.352C>T (p.Leu118=)
|
rs750104173
|
0.00003
|
|
NM_000441.2(SLC26A4):c.1363A>T (p.Ile455Phe)
|
rs375576481
|
0.00003
|
|
NM_000444.6(PHEX):c.1587-16G>T
|
rs374593246
|
0.00003
|
|
NM_000455.5(STK11):c.464+10C>T
|
rs587782445
|
0.00003
|
|
NM_000475.5(NR0B1):c.1176G>A (p.Pro392=)
|
rs778616722
|
0.00003
|
|
NM_000478.6(ALPL):c.339C>T (p.Thr113=)
|
rs377453516
|
0.00003
|
|
NM_000478.6(ALPL):c.528C>T (p.Ala176=)
|
rs758330265
|
0.00003
|
|
NM_000478.6(ALPL):c.863-15T>C
|
rs373980626
|
0.00003
|
|
NM_000486.6(AQP2):c.258C>T (p.Ala86=)
|
rs780540045
|
0.00003
|
|
NM_000497.4(CYP11B1):c.222A>G (p.Glu74=)
|
rs200096159
|
0.00003
|
|
NM_000497.4(CYP11B1):c.945C>T (p.Ser315=)
|
rs372647044
|
0.00003
|
|
NM_000498.3(CYP11B2):c.78T>G (p.Thr26=)
|
rs201423805
|
0.00003
|
|
NM_000503.6(EYA1):c.125-13T>C
|
rs753263675
|
0.00003
|
|
NM_000516.7(GNAS):c.1131C>T (p.Asn377=)
|
rs140075370
|
0.00003
|
|
NM_000516.7(GNAS):c.660-19C>T
|
rs370723643
|
0.00003
|
|
NM_000537.4(REN):c.249+18C>T
|
rs377235534
|
0.00003
|
|
NM_000540.3(RYR1):c.13932G>T (p.Leu4644=)
|
rs199698011
|
0.00003
|
|
NM_000540.3(RYR1):c.1925+19G>A
|
rs764074598
|
0.00003
|
|
NM_000548.5(TSC2):c.138+18G>A
|
rs966402370
|
0.00003
|
|
NM_000548.5(TSC2):c.201C>T (p.Val67=)
|
rs45460096
|
0.00003
|
|
NM_000548.5(TSC2):c.2097+13G>A
|
rs367915255
|
0.00003
|
|
NM_000548.5(TSC2):c.2837+12G>A
|
rs755041349
|
0.00003
|
|
NM_000548.5(TSC2):c.3018C>T (p.Asn1006=)
|
rs45471697
|
0.00003
|
|
NM_000548.5(TSC2):c.4194C>T (p.Leu1398=)
|
rs1060504106
|
0.00003
|
|
NM_000548.5(TSC2):c.4446C>T (p.Ser1482=)
|
rs780955293
|
0.00003
|
|
NM_000548.5(TSC2):c.4663-14C>T
|
rs397515174
|
0.00003
|
|
NM_000548.5(TSC2):c.4812C>A (p.Gly1604=)
|
rs397515103
|
0.00003
|
|
NM_000548.5(TSC2):c.583A>G (p.Ile195Val)
|
rs148325559
|
0.00003
|
|
NM_000548.5(TSC2):c.627C>T (p.Thr209=)
|
rs776293094
|
0.00003
|
|
NM_000552.5(VWF):c.3747T>C (p.Asp1249=)
|
rs200893595
|
0.00003
|
|
NM_000702.4(ATP1A2):c.1501G>A (p.Val501Met)
|
rs150465651
|
0.00003
|
|
NM_000719.7(CACNA1C):c.285C>T (p.Thr95=)
|
rs768096981
|
0.00003
|
|
NM_000719.7(CACNA1C):c.5493G>A (p.Thr1831=)
|
rs368046891
|
0.00003
|
|
NM_000782.5(CYP24A1):c.439C>T (p.Leu147=)
|
rs774042537
|
0.00003
|
|
NM_000789.4(ACE):c.249+16C>G
|
rs1568035049
|
0.00003
|
|
NM_000890.5(KCNJ5):c.351C>T (p.Asp117=)
|
rs765873474
|
0.00003
|
|
NM_000890.5(KCNJ5):c.438C>T (p.Thr146=)
|
rs140697732
|
0.00003
|
|
NM_000890.5(KCNJ5):c.795C>T (p.Asp265=)
|
rs757895735
|
0.00003
|
|
NM_000944.5(PPP3CA):c.558C>A (p.Pro186=)
|
rs575861563
|
0.00003
|
|
NM_001002295.2(GATA3):c.948G>A (p.Thr316=)
|
rs12572959
|
0.00003
|
|
NM_001003841.3(SLC6A19):c.1173+20C>T
|
rs982302856
|
0.00003
|
|
NM_001003841.3(SLC6A19):c.1554C>T (p.Ile518=)
|
rs143414604
|
0.00003
|
|
NM_001006658.3(CR2):c.2156-16A>C
|
rs777216094
|
0.00003
|
|
NM_001009944.3(PKD1):c.4338C>T (p.Thr1446=)
|
rs781761438
|
0.00003
|
|
NM_001011.4(RPS7):c.63C>T (p.Ser21=)
|
rs145376788
|
0.00003
|
|
NM_001018115.3(FANCD2):c.2716-15G>A
|
rs771386311
|
0.00003
|
|
NM_001018115.3(FANCD2):c.3466+9C>G
|
rs33998487
|
0.00003
|
|
NM_001029.5(RPS26):c.181+10T>G
|
rs201191387
|
0.00003
|
|
NM_001035.3(RYR2):c.3214+7T>G
|
rs748941127
|
0.00003
|
|
NM_001041.4(SI):c.1995C>T (p.Asp665=)
|
rs757380218
|
0.00003
|
|
NM_001041.4(SI):c.375A>G (p.Gly125=)
|
rs960922254
|
0.00003
|
|
NM_001042413.2(GLIS3):c.1263C>T (p.Asp421=)
|
rs755713904
|
0.00003
|
|
NM_001042492.3(NF1):c.1182T>C (p.Phe394=)
|
rs786202581
|
0.00003
|
|
NM_001042492.3(NF1):c.2916A>C (p.Leu972=)
|
rs1210119104
|
0.00003
|
|
NM_001042492.3(NF1):c.5269-18G>A
|
rs371616556
|
0.00003
|
|
NM_001042492.3(NF1):c.7189+7A>G
|
rs767151173
|
0.00003
|
|
NM_001042492.3(NF1):c.8484C>T (p.Gly2828=)
|
rs143289497
|
0.00003
|
|
NM_001042545.2(LTBP4):c.2557+10C>T
|
rs547405457
|
0.00003
|
|
NM_001046.3(SLC12A2):c.3100+20T>A
|
rs776147551
|
0.00003
|
|
NM_001081.4(CUBN):c.5355G>A (p.Leu1785=)
|
rs199509575
|
0.00003
|
|
NM_001099922.3(ALG13):c.3174A>G (p.Ser1058=)
|
rs369901028
|
0.00003
|
|
NM_001101.5(ACTB):c.1014C>T (p.Ser338=)
|
rs1064790
|
0.00003
|
|
NM_001101.5(ACTB):c.24C>G (p.Leu8=)
|
rs151181948
|
0.00003
|
|
NM_001101.5(ACTB):c.267C>T (p.Thr89=)
|
rs760279394
|
0.00003
|
|
NM_001101.5(ACTB):c.363+15A>C
|
rs772907450
|
0.00003
|
|
NM_001101.5(ACTB):c.429C>T (p.Tyr143=)
|
rs375215955
|
0.00003
|
|
NM_001101.5(ACTB):c.858C>T (p.Asp286=)
|
rs150105166
|
0.00003
|
|
NM_001102564.3(IFT43):c.501C>A (p.Val167=)
|
rs1248117843
|
0.00003
|
|
NM_001103.4(ACTN2):c.2676C>T (p.Ser892=)
|
rs397516578
|
0.00003
|
|
NM_001113378.2(FANCI):c.2349C>T (p.Asp783=)
|
rs768234660
|
0.00003
|
|
NM_001113378.2(FANCI):c.705C>T (p.Ala235=)
|
rs542117175
|
0.00003
|
|
NM_001122630.2(CDKN1C):c.105G>A (p.Leu35=)
|
rs762337324
|
0.00003
|
|
NM_001122630.2(CDKN1C):c.225G>C (p.Ser75=)
|
rs1015104953
|
0.00003
|
|
NM_001122955.4(BSCL2):c.1235-6G>A
|
rs762484263
|
0.00003
|
|
NM_001126108.2(SLC12A3):c.744G>A (p.Glu248=)
|
rs753403903
|
0.00003
|
|
NM_001128178.3(NPHP1):c.1722G>A (p.Ser574=)
|
rs778531895
|
0.00003
|
|
NM_001128840.3(CACNA1D):c.1479-19C>T
|
rs377304772
|
0.00003
|
|
NM_001130823.3(DNMT1):c.4773+11C>T
|
rs777602633
|
0.00003
|
|
NM_001134363.3(RBM20):c.1815C>T (p.Ala605=)
|
rs577194741
|
0.00003
|
|
NM_001134831.2(AHI1):c.1917T>C (p.Tyr639=)
|
rs764412921
|
0.00003
|
|
NM_001134831.2(AHI1):c.3285G>A (p.Lys1095=)
|
rs1016306200
|
0.00003
|
|
NM_001134831.2(AHI1):c.931+8A>G
|
rs763944345
|
0.00003
|
|
NM_001142800.2(EYS):c.1314A>G (p.Pro438=)
|
rs375043207
|
0.00003
|
|
NM_001144967.3(NEDD4L):c.1654-10C>G
|
rs373387102
|
0.00003
|
|
NM_001144967.3(NEDD4L):c.2307T>C (p.Thr769=)
|
rs192231264
|
0.00003
|
|
NM_001144967.3(NEDD4L):c.410+14G>T
|
rs745965638
|
0.00003
|
|
NM_001171.6(ABCC6):c.1908C>T (p.Phe636=)
|
rs767365625
|
0.00003
|
|
NM_001171.6(ABCC6):c.3891C>T (p.Ile1297=)
|
rs375741855
|
0.00003
|
|
NM_001171.6(ABCC6):c.4042-15G>A
|
rs371489110
|
0.00003
|
|
NM_001177316.2(SLC34A3):c.1093+9G>A
|
rs199976309
|
0.00003
|
|
NM_001177316.2(SLC34A3):c.1335+6G>T
|
rs117115558
|
0.00003
|
|
NM_001177316.2(SLC34A3):c.18C>T (p.Pro6=)
|
rs772903522
|
0.00003
|
|
NM_001177316.2(SLC34A3):c.846+15C>T
|
rs755035076
|
0.00003
|
|
NM_001191061.2(SLC25A22):c.654G>A (p.Ala218=)
|
rs769899113
|
0.00003
|
|
NM_001202.6(BMP4):c.93G>C (p.Gly31=)
|
rs375563326
|
0.00003
|
|
NM_001243133.2(NLRP3):c.147T>C (p.His49=)
|
rs199687987
|
0.00003
|
|
NM_001243133.2(NLRP3):c.2321+11G>A
|
rs371752834
|
0.00003
|
|
NM_001257180.2(SLC20A2):c.678C>T (p.Phe226=)
|
rs116687117
|
0.00003
|
|
NM_001267550.2(TTN):c.105141G>A (p.Glu35047=)
|
rs752897450
|
0.00003
|
|
NM_001267550.2(TTN):c.13371C>T (p.Ile4457=)
|
rs570991398
|
0.00003
|
|
NM_001267550.2(TTN):c.39895+16del
|
rs761838184
|
0.00003
|
|
NM_001267550.2(TTN):c.44916T>A (p.Val14972=)
|
rs373390402
|
0.00003
|
|
NM_001267550.2(TTN):c.55206C>A (p.Ile18402=)
|
rs368272978
|
0.00003
|
|
NM_001267550.2(TTN):c.57848-4G>A
|
rs369462016
|
0.00003
|
|
NM_001282225.2(ADA2):c.555T>C (p.Asn185=)
|
rs758525993
|
0.00003
|
|
NM_001292063.2(OTOG):c.7464C>T (p.Cys2488=)
|
rs774023506
|
0.00003
|
|
NM_001303.4(COX10):c.1185C>T (p.Leu395=)
|
rs772255579
|
0.00003
|
|
NM_001354712.2(THRB):c.175A>G (p.Ile59Val)
|
rs141172732
|
0.00003
|
|
NM_001358921.2(COQ2):c.912C>T (p.Tyr304=)
|
rs764986740
|
0.00003
|
|
NM_001360.3(DHCR7):c.822C>T (p.Asn274=)
|
rs139787408
|
0.00003
|
|
NM_001365999.1(SZT2):c.2875C>T (p.Leu959=)
|
rs1570647334
|
0.00003
|
|
NM_001366722.1(GRIP1):c.162C>T (p.Val54=)
|
rs759704197
|
0.00003
|
|
NM_001370595.2(COA8):c.129A>C (p.Ser43=)
|
rs143925033
|
0.00003
|
|
NM_001377299.1(NDUFS2):c.777G>A (p.Glu259=)
|
rs763804955
|
0.00003
|
|
NM_001378454.1(ALMS1):c.12363-18A>C
|
rs199968770
|
0.00003
|
|
NM_001378454.1(ALMS1):c.4761T>C (p.Asp1587=)
|
rs747858041
|
0.00003
|
|
NM_001378454.1(ALMS1):c.4938T>G (p.Ala1646=)
|
rs767547246
|
0.00003
|
|
NM_001379081.2(FREM1):c.246C>T (p.Cys82=)
|
rs766485109
|
0.00003
|
|
NM_001379081.2(FREM1):c.2811G>A (p.Gly937=)
|
rs150482858
|
0.00003
|
|
NM_001384479.1(AGT):c.282C>T
|
rs756049025
|
0.00003
|
|
NM_001384732.1(CPLANE1):c.570+12C>T
|
rs1339498232
|
0.00003
|
|
NM_001384732.1(CPLANE1):c.8679G>A (p.Pro2893=)
|
rs370303703
|
0.00003
|
|
NM_001613.4(ACTA2):c.648G>A (p.Glu216=)
|
rs775575485
|
0.00003
|
|
NM_001692.4(ATP6V1B1):c.118+10C>T
|
rs368755541
|
0.00003
|
|
NM_001692.4(ATP6V1B1):c.537C>T (p.Arg179=)
|
rs545034098
|
0.00003
|
|
NM_001735.3(C5):c.1125T>G (p.Val375=)
|
rs778186090
|
0.00003
|
|
NM_001735.3(C5):c.1947T>C (p.Ala649=)
|
rs768999689
|
0.00003
|
|
NM_001735.3(C5):c.435T>A (p.Val145=)
|
rs760334587
|
0.00003
|
|
NM_001845.6(COL4A1):c.2448G>A (p.Pro816=)
|
rs144401828
|
0.00003
|
|
NM_001845.6(COL4A1):c.4929-9G>A
|
rs756038842
|
0.00003
|
|
NM_001943.5(DSG2):c.2340G>T (p.Ala780=)
|
rs375539435
|
0.00003
|
|
NM_002067.5(GNA11):c.462C>T (p.Ser154=)
|
rs200449144
|
0.00003
|
|
NM_002067.5(GNA11):c.889+7C>T
|
rs201814380
|
0.00003
|
|
NM_002087.4(GRN):c.1485C>T (p.Cys495=)
|
rs63750576
|
0.00003
|
|
NM_002204.4(ITGA3):c.84C>T (p.Cys28=)
|
rs982451007
|
0.00003
|
|
NM_002230.4(JUP):c.1290A>G (p.Thr430=)
|
rs897549158
|
0.00003
|
|
NM_002292.4(LAMB2):c.1383C>T (p.Ile461=)
|
rs373952285
|
0.00003
|
|
NM_002292.4(LAMB2):c.4305G>A (p.Pro1435=)
|
rs371257983
|
0.00003
|
|
NM_002292.4(LAMB2):c.4863C>G (p.Ala1621=)
|
rs753340192
|
0.00003
|
|
NM_002294.3(LAMP2):c.65-20A>T
|
rs773064698
|
0.00003
|
|
NM_002334.4(LRP4):c.431-8C>T
|
rs150531536
|
0.00003
|
|
NM_002335.4(LRP5):c.4068C>T (p.Asp1356=)
|
rs367555198
|
0.00003
|
|
NM_002335.4(LRP5):c.4112-18T>C
|
rs549631739
|
0.00003
|
|
NM_002335.4(LRP5):c.4297G>A (p.Val1433Met)
|
rs199871539
|
0.00003
|
|
NM_002335.4(LRP5):c.883+9C>T
|
rs543311335
|
0.00003
|
|
NM_002471.4(MYH6):c.5367G>A (p.Glu1789=)
|
rs753335327
|
0.00003
|
|
NM_002473.6(MYH9):c.4218C>T (p.Ala1406=)
|
rs142957635
|
0.00003
|
|
NM_002661.5(PLCG2):c.1194-16C>A
|
rs778184999
|
0.00003
|
|
NM_002661.5(PLCG2):c.147G>A (p.Thr49=)
|
rs969768555
|
0.00003
|
|
NM_002661.5(PLCG2):c.438G>A (p.Leu146=)
|
rs976068042
|
0.00003
|
|
NM_002661.5(PLCG2):c.766-7T>C
|
rs1055824436
|
0.00003
|
|
NM_002968.3(SALL1):c.1565C>T (p.Thr522Met)
|
rs200304033
|
0.00003
|
|
NM_002968.3(SALL1):c.219C>T (p.Ile73=)
|
rs774483464
|
0.00003
|
|
NM_002968.3(SALL1):c.3771C>T (p.Asn1257=)
|
rs145423593
|
0.00003
|
|
NM_002979.5(SCP2):c.973+15T>G
|
rs544069554
|
0.00003
|
|
NM_003052.5(SLC34A1):c.294C>T (p.Gly98=)
|
rs767269039
|
0.00003
|
|
NM_003072.5(SMARCA4):c.2562C>T (p.Asn854=)
|
rs369724341
|
0.00003
|
|
NM_003239.5(TGFB3):c.591C>T (p.Ala197=)
|
rs375090568
|
0.00003
|
|
NM_003392.7(WNT5A):c.684+18C>A
|
rs1264331427
|
0.00003
|
|
NM_003611.3(OFD1):c.1694T>C (p.Val565Ala)
|
rs529916753
|
0.00003
|
|
NM_003611.3(OFD1):c.2482T>G (p.Phe828Val)
|
rs779051357
|
0.00003
|
|
NM_003611.3(OFD1):c.688A>G (p.Ile230Val)
|
rs770131832
|
0.00003
|
|
NM_003640.5(ELP1):c.2790T>C (p.Asn930=)
|
rs1057521262
|
0.00003
|
|
NM_003722.5(TP63):c.366G>A (p.Gln122=)
|
rs201774402
|
0.00003
|
|
NM_003722.5(TP63):c.402T>C (p.Tyr134=)
|
rs201239102
|
0.00003
|
|
NM_003722.5(TP63):c.714G>A (p.Thr238=)
|
rs773030906
|
0.00003
|
|
NM_003722.5(TP63):c.992+8G>A
|
rs192488893
|
0.00003
|
|
NM_003982.4(SLC7A7):c.862A>C (p.Arg288=)
|
rs143240690
|
0.00003
|
|
NM_004004.6(GJB2):c.195C>T (p.Tyr65=)
|
rs763572195
|
0.00003
|
|
NM_004006.3(DMD):c.1462C>T (p.Arg488Cys)
|
rs758932385
|
0.00003
|
|
NM_004006.3(DMD):c.6726A>G (p.Lys2242=)
|
rs145993057
|
0.00003
|
|
NM_004333.6(BRAF):c.1314+17T>C
|
rs1057524397
|
0.00003
|
|
NM_004333.6(BRAF):c.2128-10_2128-9insC
|
rs758588300
|
0.00003
|
|
NM_004333.6(BRAF):c.2136C>T (p.Ala712=)
|
rs377165711
|
0.00003
|
|
NM_004357.5(CD151):c.457-16C>T
|
rs200783645
|
0.00003
|
|
NM_004357.5(CD151):c.703-15C>T
|
rs143948122
|
0.00003
|
|
NM_004360.5(CDH1):c.1225T>C (p.Trp409Arg)
|
rs587778176
|
0.00003
|
|
NM_004380.3(CREBBP):c.2400G>A (p.Pro800=)
|
rs756570921
|
0.00003
|
|
NM_004380.3(CREBBP):c.5115C>T (p.Tyr1705=)
|
rs200287696
|
0.00003
|
|
NM_004525.3(LRP2):c.2076A>G (p.Thr692=)
|
rs772992405
|
0.00003
|
|
NM_004525.3(LRP2):c.2117-20C>T
|
rs190077478
|
0.00003
|
|
NM_004525.3(LRP2):c.5535C>A (p.Ile1845=)
|
rs772030872
|
0.00003
|
|
NM_004525.3(LRP2):c.6281-7C>A
|
rs200673871
|
0.00003
|
|
NM_004525.3(LRP2):c.8578+19C>T
|
rs184250625
|
0.00003
|
|
NM_004560.4(ROR2):c.2451C>T (p.Leu817=)
|
rs200396791
|
0.00003
|
|
NM_004646.4(NPHS1):c.1647G>C (p.Thr549=)
|
rs371484897
|
0.00003
|
|
NM_004646.4(NPHS1):c.2664-7T>C
|
rs910612404
|
0.00003
|
|
NM_004646.4(NPHS1):c.2724C>T (p.Asn908=)
|
rs200269176
|
0.00003
|
|
NM_004646.4(NPHS1):c.87C>T (p.Ser29=)
|
rs544235158
|
0.00003
|
|
NM_004795.4(KL):c.1005T>C (p.Gly335=)
|
rs749183356
|
0.00003
|
|
NM_004795.4(KL):c.292C>T (p.Leu98=)
|
rs762177521
|
0.00003
|
|
NM_004924.6(ACTN4):c.240C>T (p.Asp80=)
|
rs1179808544
|
0.00003
|
|
NM_004924.6(ACTN4):c.2508G>A (p.Ser836=)
|
rs749956565
|
0.00003
|
|
NM_004924.6(ACTN4):c.2616C>T (p.Pro872=)
|
rs747925584
|
0.00003
|
|
NM_004937.3(CTNS):c.831G>T (p.Thr277=)
|
rs533147998
|
0.00003
|
|
NM_004944.4(DNASE1L3):c.211C>T (p.Leu71=)
|
rs201845352
|
0.00003
|
|
NM_004998.4(MYO1E):c.1770C>T (p.Asn590=)
|
rs149553440
|
0.00003
|
|
NM_005188.4(CBL):c.1353C>T (p.Pro451=)
|
rs201616881
|
0.00003
|
|
NM_005334.3(HCFC1):c.5206C>T (p.Leu1736=)
|
rs782368009
|
0.00003
|
|
NM_005461.5(MAFB):c.294G>C (p.Glu98Asp)
|
rs374174345
|
0.00003
|
|
NM_005506.4(SCARB2):c.1116G>A (p.Leu372=)
|
rs564647544
|
0.00003
|
|
NM_006005.3(WFS1):c.1008C>G (p.Leu336=)
|
rs755063164
|
0.00003
|
|
NM_006005.3(WFS1):c.1680C>T (p.Ser560=)
|
rs760906868
|
0.00003
|
|
NM_006005.3(WFS1):c.2406C>T (p.Ile802=)
|
rs201102144
|
0.00003
|
|
NM_006005.3(WFS1):c.882C>T (p.His294=)
|
rs571928866
|
0.00003
|
|
NM_006231.4(POLE):c.3228C>T (p.Cys1076=)
|
rs767929667
|
0.00003
|
|
NM_006231.4(POLE):c.5478G>T (p.Arg1826=)
|
rs537648186
|
0.00003
|
|
NM_006302.3(MOGS):c.2112C>T (p.Pro704=)
|
rs561758565
|
0.00003
|
|
NM_006306.4(SMC1A):c.2059-9T>C
|
rs782041729
|
0.00003
|
|
NM_006306.4(SMC1A):c.429T>C (p.Ile143=)
|
rs782366028
|
0.00003
|
|
NM_006514.4(SCN10A):c.2324C>T (p.Thr775Ile)
|
rs150501065
|
0.00003
|
|
NM_006514.4(SCN10A):c.3237C>T (p.Asp1079=)
|
rs745921364
|
0.00003
|
|
NM_006642.5(SDCCAG8):c.987G>A (p.Thr329=)
|
rs778065772
|
0.00003
|
|
NM_006642.5(SDCCAG8):c.996A>G (p.Arg332=)
|
rs142658750
|
0.00003
|
|
NM_006662.3(SRCAP):c.5340G>C (p.Leu1780=)
|
rs1028599771
|
0.00003
|
|
NM_006662.3(SRCAP):c.5478G>C (p.Ser1826=)
|
rs754115748
|
0.00003
|
|
NM_006772.3(SYNGAP1):c.1888A>G (p.Ile630Val)
|
rs192497085
|
0.00003
|
|
NM_007078.3(LDB3):c.1962G>A (p.Glu654=)
|
rs201063130
|
0.00003
|
|
NM_007214.5(SEC63):c.1441-5C>T
|
rs370312823
|
0.00003
|
|
NM_007294.4(BRCA1):c.5310G>A (p.Gly1770=)
|
rs273901761
|
0.00003
|
|
NM_012179.4(FBXO7):c.465G>A (p.Ala155=)
|
rs765523844
|
0.00003
|
|
NM_012330.4(KAT6B):c.4384C>A (p.Leu1462Ile)
|
rs374530664
|
0.00003
|
|
NM_013247.5(HTRA2):c.618C>G (p.Val206=)
|
rs186272815
|
0.00003
|
|
NM_013254.4(TBK1):c.1839G>T (p.Leu613Phe)
|
rs368859659
|
0.00003
|
|
NM_013275.6(ANKRD11):c.6085G>A (p.Val2029Ile)
|
rs199785661
|
0.00003
|
|
NM_013335.4(GMPPA):c.876C>T (p.Thr292=)
|
rs371527019
|
0.00003
|
|
NM_014009.4(FOXP3):c.1051C>T (p.Leu351=)
|
rs782127412
|
0.00003
|
|
NM_014009.4(FOXP3):c.495G>A (p.Pro165=)
|
rs781920028
|
0.00003
|
|
NM_014140.4(SMARCAL1):c.1761C>T (p.Pro587=)
|
rs781340148
|
0.00003
|
|
NM_014244.5(ADAMTS2):c.2721G>A (p.Ala907=)
|
rs373304304
|
0.00003
|
|
NM_014714.4(IFT140):c.4383C>T (p.Asp1461=)
|
rs768372140
|
0.00003
|
|
NM_014795.4(ZEB2):c.2255C>T (p.Thr752Met)
|
rs143438888
|
0.00003
|
|
NM_014956.5(CEP164):c.1233+9G>A
|
rs1042105817
|
0.00003
|
|
NM_014956.5(CEP164):c.390G>A (p.Ser130=)
|
rs773045906
|
0.00003
|
|
NM_015102.5(NPHP4):c.2280C>T (p.Ile760=)
|
rs1013943590
|
0.00003
|
|
NM_015158.5(KANK1):c.783G>A (p.Gln261=)
|
rs759180739
|
0.00003
|
|
NM_015272.5(RPGRIP1L):c.2875-19A>G
|
rs370091137
|
0.00003
|
|
NM_015272.5(RPGRIP1L):c.3450G>T (p.Arg1150=)
|
rs762140481
|
0.00003
|
|
NM_015443.4(KANSL1):c.1059C>A (p.Ala353=)
|
rs761810633
|
0.00003
|
|
NM_015443.4(KANSL1):c.1830C>T (p.Ile610=)
|
rs150800846
|
0.00003
|
|
NM_015443.4(KANSL1):c.1855C>T (p.Arg619Trp)
|
rs141298741
|
0.00003
|
|
NM_015443.4(KANSL1):c.2130C>T (p.Pro710=)
|
rs190201507
|
0.00003
|
|
NM_015443.4(KANSL1):c.468G>C (p.Gly156=)
|
rs150877831
|
0.00003
|
|
NM_015443.4(KANSL1):c.843C>T (p.Asp281=)
|
rs753023870
|
0.00003
|
|
NM_015443.4(KANSL1):c.963G>A (p.Leu321=)
|
rs772111208
|
0.00003
|
|
NM_015506.3(MMACHC):c.495G>A (p.Leu165=)
|
rs761111018
|
0.00003
|
|
NM_015506.3(MMACHC):c.82-10T>C
|
rs778416032
|
0.00003
|
|
NM_015559.3(SETBP1):c.1037C>T (p.Thr346Ile)
|
rs557430935
|
0.00003
|
|
NM_015662.3(IFT172):c.1893G>A (p.Leu631=)
|
rs774534899
|
0.00003
|
|
NM_015662.3(IFT172):c.2388A>G (p.Thr796=)
|
rs750450341
|
0.00003
|
|
NM_015662.3(IFT172):c.4161-16C>T
|
rs573518240
|
0.00003
|
|
NM_015662.3(IFT172):c.456G>A (p.Glu152=)
|
rs771141815
|
0.00003
|
|
NM_016203.4(PRKAG2):c.297C>T (p.Pro99=)
|
rs767950372
|
0.00003
|
|
NM_016204.4(GDF2):c.732C>T (p.Val244=)
|
rs145385373
|
0.00003
|
|
NM_017570.5(OPLAH):c.3156C>T (p.Gly1052=)
|
rs782559583
|
0.00003
|
|
NM_017636.4(TRPM4):c.345G>A (p.Pro115=)
|
rs750991001
|
0.00003
|
|
NM_017636.4(TRPM4):c.582C>A (p.Val194=)
|
rs914389404
|
0.00003
|
|
NM_017649.5(CNNM2):c.2073+8G>T
|
rs1302420255
|
0.00003
|
|
NM_017649.5(CNNM2):c.2565C>T (p.Asn855=)
|
rs540196504
|
0.00003
|
|
NM_017780.4(CHD7):c.4881C>T (p.His1627=)
|
rs774433565
|
0.00003
|
|
NM_017780.4(CHD7):c.6468C>T (p.Val2156=)
|
rs777858802
|
0.00003
|
|
NM_017780.4(CHD7):c.8610G>A (p.Ala2870=)
|
rs375459176
|
0.00003
|
|
NM_017827.4(SARS2):c.795C>T (p.Arg265=)
|
rs372151812
|
0.00003
|
|
NM_017866.6(TMEM70):c.211-11T>C
|
rs111260030
|
0.00003
|
|
NM_017947.4(MOCOS):c.930G>A (p.Ser310=)
|
rs780099735
|
0.00003
|
|
NM_018062.4(FANCL):c.471+12G>A
|
rs369756342
|
0.00003
|
|
NM_018419.3(SOX18):c.1014C>G (p.Pro338=)
|
rs757152110
|
0.00003
|
|
NM_018941.4(CLN8):c.288G>A (p.Ala96=)
|
rs533351136
|
0.00003
|
|
NM_018979.4(WNK1):c.3210-18T>C
|
rs79776602
|
0.00003
|
|
NM_019109.5(ALG1):c.1050C>T (p.Ala350=)
|
rs777066439
|
0.00003
|
|
NM_019109.5(ALG1):c.1263+18C>T
|
rs570783073
|
0.00003
|
|
NM_019109.5(ALG1):c.286+10C>T
|
rs371480769
|
0.00003
|
|
NM_019109.5(ALG1):c.648C>T (p.Asp216=)
|
rs141455029
|
0.00003
|
|
NM_019109.5(ALG1):c.726T>C (p.Ser242=)
|
rs780479533
|
0.00003
|
|
NM_020117.11(LARS1):c.109T>G (p.Leu37Val)
|
rs576752929
|
0.00003
|
|
NM_020436.5(SALL4):c.42G>C (p.Ser14=)
|
rs137903141
|
0.00003
|
|
NM_020937.4(FANCM):c.4578T>G (p.Val1526=)
|
rs368982372
|
0.00003
|
|
NM_020937.4(FANCM):c.6060G>A (p.Glu2020=)
|
rs949619907
|
0.00003
|
|
NM_020937.4(FANCM):c.6084T>C (p.Tyr2028=)
|
rs756119280
|
0.00003
|
|
NM_020975.6(RET):c.1879+18G>A
|
rs368088386
|
0.00003
|
|
NM_020975.6(RET):c.2284+15C>T
|
rs768252806
|
0.00003
|
|
NM_020975.6(RET):c.897C>T (p.Phe299=)
|
rs529153319
|
0.00003
|
|
NM_020975.6(RET):c.96G>A (p.Ser32=)
|
rs139821724
|
0.00003
|
|
NM_021098.3(CACNA1H):c.1206C>G (p.Leu402=)
|
rs764371721
|
0.00003
|
|
NM_021098.3(CACNA1H):c.1539G>A (p.Ser513=)
|
rs770284927
|
0.00003
|
|
NM_021098.3(CACNA1H):c.1938C>T (p.His646=)
|
rs771171443
|
0.00003
|
|
NM_021098.3(CACNA1H):c.1992C>T (p.Val664=)
|
rs764559629
|
0.00003
|
|
NM_021098.3(CACNA1H):c.2208C>T (p.His736=)
|
rs376616017
|
0.00003
|
|
NM_021098.3(CACNA1H):c.2789+10A>G
|
rs535085854
|
0.00003
|
|
NM_021098.3(CACNA1H):c.2841C>T (p.Thr947=)
|
rs775833368
|
0.00003
|
|
NM_021098.3(CACNA1H):c.2931C>T (p.Asn977=)
|
rs376470846
|
0.00003
|
|
NM_021098.3(CACNA1H):c.3339G>A (p.Pro1113=)
|
rs368155283
|
0.00003
|
|
NM_021098.3(CACNA1H):c.3364-13C>T
|
rs780323364
|
0.00003
|
|
NM_021098.3(CACNA1H):c.4863C>T (p.Leu1621=)
|
rs951676471
|
0.00003
|
|
NM_021098.3(CACNA1H):c.6034C>T (p.Leu2012=)
|
rs4609848
|
0.00003
|
|
NM_021098.3(CACNA1H):c.6321C>T (p.Ser2107=)
|
rs753643337
|
0.00003
|
|
NM_021098.3(CACNA1H):c.643+13C>A
|
rs372696554
|
0.00003
|
|
NM_021098.3(CACNA1H):c.822C>T (p.Phe274=)
|
rs535504262
|
0.00003
|
|
NM_021098.3(CACNA1H):c.993C>A (p.Gly331=)
|
rs770821118
|
0.00003
|
|
NM_021922.3(FANCE):c.1092C>T (p.Thr364=)
|
rs776318917
|
0.00003
|
|
NM_022356.4(P3H1):c.1215G>A (p.Glu405=)
|
rs527679322
|
0.00003
|
|
NM_022455.5(NSD1):c.6045T>C (p.Tyr2015=)
|
rs745760201
|
0.00003
|
|
NM_022489.4(INF2):c.2418+19G>A
|
rs770701500
|
0.00003
|
|
NM_022489.4(INF2):c.279C>T (p.Ser93=)
|
rs199769315
|
0.00003
|
|
NM_023110.3(FGFR1):c.2106C>T (p.Pro702=)
|
rs777061347
|
0.00003
|
|
NM_023110.3(FGFR1):c.2186+19C>T
|
rs776791517
|
0.00003
|
|
NM_023110.3(FGFR1):c.456T>C (p.Ala152=)
|
rs369175953
|
0.00003
|
|
NM_024408.4(NOTCH2):c.5214-12T>C
|
rs770224035
|
0.00003
|
|
NM_024422.6(DSC2):c.630+19G>A
|
rs750910749
|
0.00003
|
|
NM_024426.6(WT1):c.1038C>T (p.Ser346=)
|
rs750018485
|
0.00003
|
|
NM_024649.5(BBS1):c.1485T>C (p.Leu495=)
|
rs373894194
|
0.00003
|
|
NM_024649.5(BBS1):c.684C>T (p.Leu228=)
|
rs764202615
|
0.00003
|
|
NM_024675.4(PALB2):c.1272C>T (p.Ala424=)
|
rs754720030
|
0.00003
|
|
NM_024685.4(BBS10):c.1287T>C (p.Asp429=)
|
rs771468663
|
0.00003
|
|
NM_025114.4(CEP290):c.1386C>T (p.Val462=)
|
rs886038689
|
0.00003
|
|
NM_025114.4(CEP290):c.3843A>G (p.Ala1281=)
|
rs777382672
|
0.00003
|
|
NM_025114.4(CEP290):c.442-20_442-19insA
|
rs772322663
|
0.00003
|
|
NM_025132.4(WDR19):c.3716+13G>A
|
rs759523972
|
0.00003
|
|
NM_025137.4(SPG11):c.2377G>A (p.Val793Met)
|
rs546601155
|
0.00003
|
|
NM_030943.4(AMN):c.1179G>A (p.Arg393=)
|
rs1434288624
|
0.00003
|
|
NM_031885.5(BBS2):c.612+17C>T
|
rs745726316
|
0.00003
|
|
NM_032387.5(WNK4):c.2136G>A (p.Pro712=)
|
rs372128794
|
0.00003
|
|
NM_032444.4(SLX4):c.2022C>T (p.Leu674=)
|
rs139900828
|
0.00003
|
|
NM_032444.4(SLX4):c.4185C>T (p.Val1395=)
|
rs993089915
|
0.00003
|
|
NM_032444.4(SLX4):c.4599T>C (p.Ala1533=)
|
rs1320958776
|
0.00003
|
|
NM_032575.3(GLIS2):c.627C>T (p.Cys209=)
|
rs746571582
|
0.00003
|
|
NM_032578.4(MYPN):c.3006C>T (p.Cys1002=)
|
rs1321971649
|
0.00003
|
|
NM_032578.4(MYPN):c.3441C>T (p.Ile1147=)
|
rs759420426
|
0.00003
|
|
NM_033028.5(BBS4):c.928T>C (p.Leu310=)
|
rs375714932
|
0.00003
|
|
NM_033380.3(COL4A5):c.1469C>T (p.Ser490Leu)
|
rs764543034
|
0.00003
|
|
NM_033380.3(COL4A5):c.1909C>A (p.Gln637Lys)
|
rs368347660
|
0.00003
|
|
NM_033380.3(COL4A5):c.2797C>T (p.Leu933Phe)
|
rs191497639
|
0.00003
|
|
NM_033380.3(COL4A5):c.892-4A>G
|
rs777914438
|
0.00003
|
|
NM_033641.4(COL4A6):c.2013C>T (p.Pro671=)
|
rs200299007
|
0.00003
|
|
NM_053025.4(MYLK):c.4221C>A (p.Ile1407=)
|
rs780641277
|
0.00003
|
|
NM_053025.4(MYLK):c.4224C>T (p.Asn1408=)
|
rs149002594
|
0.00003
|
|
NM_058216.3(RAD51C):c.705+14T>C
|
rs771168730
|
0.00003
|
|
NM_058216.3(RAD51C):c.905-19T>C
|
rs368114768
|
0.00003
|
|
NM_133261.3(GIPC3):c.915C>T (p.Gly305=)
|
rs142749099
|
0.00003
|
|
NM_133379.5(TTN):c.14790C>G (p.Val4930=)
|
rs370038956
|
0.00003
|
|
NM_138694.4(PKHD1):c.11883A>G (p.Arg3961=)
|
rs1165946143
|
0.00003
|
|
NM_138694.4(PKHD1):c.1254C>T (p.Ser418=)
|
rs1252381398
|
0.00003
|
|
NM_138694.4(PKHD1):c.131-16C>T
|
rs1174461021
|
0.00003
|
|
NM_138694.4(PKHD1):c.3468G>A (p.Ser1156=)
|
rs778487042
|
0.00003
|
|
NM_138694.4(PKHD1):c.3609T>C (p.Pro1203=)
|
rs758960742
|
0.00003
|
|
NM_138694.4(PKHD1):c.8898G>A (p.Arg2966=)
|
rs781630151
|
0.00003
|
|
NM_144596.4(TTC8):c.54G>A (p.Arg18=)
|
rs745942356
|
0.00003
|
|
NM_144997.7(FLCN):c.1380C>T (p.Leu460=)
|
rs773581294
|
0.00003
|
|
NM_144997.7(FLCN):c.450T>C (p.Phe150=)
|
rs200672897
|
0.00003
|
|
NM_152296.5(ATP1A3):c.2418+18C>T
|
rs369674143
|
0.00003
|
|
NM_153766.3(KCNJ1):c.792G>A (p.Ala264=)
|
rs567888166
|
0.00003
|
|
NM_170707.4(LMNA):c.1380+18G>A
|
rs777846700
|
0.00003
|
|
NM_170707.4(LMNA):c.1381-13A>G
|
rs750192865
|
0.00003
|
|
NM_170784.3(MKKS):c.822C>T (p.Asp274=)
|
rs761342904
|
0.00003
|
|
NM_173551.5(ANKS6):c.1125T>C (p.Ile375=)
|
rs200355078
|
0.00003
|
|
NM_173551.5(ANKS6):c.1989T>C (p.Asn663=)
|
rs756110261
|
0.00003
|
|
NM_173551.5(ANKS6):c.2395-7T>C
|
rs775510768
|
0.00003
|
|
NM_175875.5(SIX5):c.936C>T (p.Pro312=)
|
rs374751577
|
0.00003
|
|
NM_175914.5(HNF4A):c.1064-18G>A
|
rs773235761
|
0.00003
|
|
NM_182476.3(COQ6):c.180T>C (p.Phe60=)
|
rs773886692
|
0.00003
|
|
NM_198076.6(COX20):c.222-3A>C
|
rs200065889
|
0.00003
|
|
NM_198252.3(GSN):c.1932G>A (p.Thr644=)
|
rs759980004
|
0.00003
|
|
NM_198253.3(TERT):c.2190C>T (p.Ala730=)
|
rs138128892
|
0.00003
|
|
NM_198428.3(BBS9):c.1377C>T (p.Val459=)
|
rs763552337
|
0.00003
|
|
NM_198428.3(BBS9):c.1606C>T (p.Leu536=)
|
rs576401162
|
0.00003
|
|
NM_198428.3(BBS9):c.2487C>T (p.Thr829=)
|
rs746373450
|
0.00003
|
|
NM_198428.3(BBS9):c.528T>A (p.Pro176=)
|
rs757308943
|
0.00003
|
|
NM_198578.4(LRRK2):c.5931C>T (p.His1977=)
|
rs201119482
|
0.00003
|
|
NM_207361.6(FREM2):c.219G>A (p.Val73=)
|
rs115510540
|
0.00003
|
|
NM_207361.6(FREM2):c.3747C>T (p.Val1249=)
|
rs773900493
|
0.00003
|
|
NM_212482.4(FN1):c.3288C>T (p.Thr1096=)
|
rs754499962
|
0.00003
|
|
NM_000016.6(ACADM):c.6A>C (p.Ala2=)
|
rs752190688
|
0.00002
|
|
NM_000018.4(ACADVL):c.858G>A (p.Arg286=)
|
rs531514327
|
0.00002
|
|
NM_000052.7(ATP7A):c.3522T>C (p.Asn1174=)
|
rs1179465472
|
0.00002
|
|
NM_000053.4(ATP7B):c.1875T>C (p.Ile625=)
|
rs756958229
|
0.00002
|
|
NM_000053.4(ATP7B):c.4035C>T (p.Pro1345=)
|
rs564541246
|
0.00002
|
|
NM_000059.4(BRCA2):c.1538A>G (p.Lys513Arg)
|
rs28897709
|
0.00002
|
|
NM_000059.4(BRCA2):c.7986G>A (p.Thr2662=)
|
rs1057522378
|
0.00002
|
|
NM_000064.4(C3):c.1479+13C>G
|
rs368352750
|
0.00002
|
|
NM_000064.4(C3):c.3015G>T (p.Val1005=)
|
rs1340489185
|
0.00002
|
|
NM_000064.4(C3):c.3647-13A>G
|
rs760807491
|
0.00002
|
|
NM_000069.3(CACNA1S):c.1302C>T (p.Phe434=)
|
rs1051111849
|
0.00002
|
|
NM_000069.3(CACNA1S):c.1305T>C (p.Tyr435=)
|
rs763639897
|
0.00002
|
|
NM_000069.3(CACNA1S):c.1347C>T (p.Ile449=)
|
rs754689047
|
0.00002
|
|
NM_000069.3(CACNA1S):c.259-14G>A
|
rs762197754
|
0.00002
|
|
NM_000069.3(CACNA1S):c.2838C>T (p.Gly946=)
|
rs759934490
|
0.00002
|
|
NM_000069.3(CACNA1S):c.2854-15T>G
|
rs1405252446
|
0.00002
|
|
NM_000069.3(CACNA1S):c.2901G>A (p.Glu967=)
|
rs745738564
|
0.00002
|
|
NM_000069.3(CACNA1S):c.3331G>A (p.Val1111Met)
|
rs200558548
|
0.00002
|
|
NM_000069.3(CACNA1S):c.3610-18C>T
|
rs747616430
|
0.00002
|
|
NM_000069.3(CACNA1S):c.708G>C (p.Thr236=)
|
rs754213830
|
0.00002
|
|
NM_000089.4(COL1A2):c.1170C>T (p.Ala390=)
|
rs753455668
|
0.00002
|
|
NM_000091.5(COL4A3):c.1875T>C (p.Gly625=)
|
rs748004604
|
0.00002
|
|
NM_000091.5(COL4A3):c.1908C>T (p.Pro636=)
|
rs751356130
|
0.00002
|
|
NM_000091.5(COL4A3):c.964T>C (p.Leu322=)
|
rs1213929853
|
0.00002
|
|
NM_000092.5(COL4A4):c.1987+8T>A
|
rs780277266
|
0.00002
|
|
NM_000092.5(COL4A4):c.4971A>G (p.Ala1657=)
|
rs371571953
|
0.00002
|
|
NM_000094.4(COL7A1):c.2734C>T (p.Leu912=)
|
rs773201784
|
0.00002
|
|
NM_000102.4(CYP17A1):c.654C>T (p.Val218=)
|
rs375350911
|
0.00002
|
|
NM_000135.4(FANCA):c.1236G>A (p.Ala412=)
|
rs371993688
|
0.00002
|
|
NM_000135.4(FANCA):c.2151+20A>G
|
rs374555419
|
0.00002
|
|
NM_000135.4(FANCA):c.3627-17C>T
|
rs754751562
|
0.00002
|
|
NM_000135.4(FANCA):c.57G>C (p.Arg19=)
|
rs930955916
|
0.00002
|
|
NM_000135.4(FANCA):c.6C>G (p.Ser2=)
|
rs982258436
|
0.00002
|
|
NM_000135.4(FANCA):c.888G>A (p.Arg296=)
|
rs942855447
|
0.00002
|
|
NM_000136.3(FANCC):c.165+17A>G
|
rs1046183823
|
0.00002
|
|
NM_000138.5(FBN1):c.7533T>C (p.Cys2511=)
|
rs750331217
|
0.00002
|
|
NM_000138.5(FBN1):c.8227-10G>A
|
rs765093559
|
0.00002
|
|
NM_000142.5(FGFR3):c.1935C>T (p.Leu645=)
|
rs104886006
|
0.00002
|
|
NM_000168.6(GLI3):c.3864G>A (p.Gly1288=)
|
rs369272004
|
0.00002
|
|
NM_000179.3(MSH6):c.3801+14G>T
|
rs755626529
|
0.00002
|
|
NM_000186.4(CFH):c.906C>G (p.Thr302=)
|
rs148552495
|
0.00002
|
|
NM_000198.4(HSD3B2):c.258T>C (p.Asp86=)
|
rs996323669
|
0.00002
|
|
NM_000204.5(CFI):c.1378C>T (p.Leu460=)
|
rs1026187949
|
0.00002
|
|
NM_000204.5(CFI):c.546A>G (p.Leu182=)
|
rs992376160
|
0.00002
|
|
NM_000214.3(JAG1):c.1707G>A (p.Thr569=)
|
rs745608068
|
0.00002
|
|
NM_000214.3(JAG1):c.2372+13T>A
|
rs768213112
|
0.00002
|
|
NM_000214.3(JAG1):c.2499G>A (p.Ala833=)
|
rs201954371
|
0.00002
|
|
NM_000214.3(JAG1):c.975T>G (p.Pro325=)
|
rs1179713453
|
0.00002
|
|
NM_000217.3(KCNA1):c.1170C>G (p.Ser390=)
|
rs760496447
|
0.00002
|
|
NM_000218.3(KCNQ1):c.1795-10G>A
|
rs780067234
|
0.00002
|
|
NM_000218.3(KCNQ1):c.345G>A (p.Glu115=)
|
rs758960211
|
0.00002
|
|
NM_000238.4(KCNH2):c.2190G>A (p.Leu730=)
|
rs1401248493
|
0.00002
|
|
NM_000243.3(MEFV):c.192G>A (p.Glu64=)
|
rs547393490
|
0.00002
|
|
NM_000255.4(MMUT):c.912-14C>T
|
rs200394018
|
0.00002
|
|
NM_000256.3(MYBPC3):c.1563C>T (p.Asp521=)
|
rs367915627
|
0.00002
|
|
NM_000256.3(MYBPC3):c.1830C>T (p.Asp610=)
|
rs768049705
|
0.00002
|
|
NM_000257.4(MYH7):c.4641C>T (p.Ala1547=)
|
rs376854724
|
0.00002
|
|
NM_000257.4(MYH7):c.4953+14G>A
|
rs758571263
|
0.00002
|
|
NM_000268.4(NF2):c.1447-11C>T
|
rs571246532
|
0.00002
|
|
NM_000277.3(PAH):c.441+15C>T
|
rs187133779
|
0.00002
|
|
NM_000291.4(PGK1):c.539A>G (p.Asn180Ser)
|
rs781839243
|
0.00002
|
|
NM_000311.5(PRNP):c.636G>A (p.Gln212=)
|
rs757784308
|
0.00002
|
|
NM_000334.4(SCN4A):c.1845+11G>T
|
rs761523703
|
0.00002
|
|
NM_000334.4(SCN4A):c.483-7C>T
|
rs780933125
|
0.00002
|
|
NM_000335.5(SCN5A):c.1677A>G (p.Thr559=)
|
rs376389170
|
0.00002
|
|
NM_000335.5(SCN5A):c.1992C>T (p.Ser664=)
|
rs368167264
|
0.00002
|
|
NM_000338.3(SLC12A1):c.421-15A>G
|
rs148912103
|
0.00002
|
|
NM_000340.2(SLC2A2):c.371+19T>C
|
rs752870085
|
0.00002
|
|
NM_000341.4(SLC3A1):c.1809A>C (p.Thr603=)
|
rs746978183
|
0.00002
|
|
NM_000352.6(ABCC8):c.1800C>T (p.Thr600=)
|
rs371181016
|
0.00002
|
|
NM_000352.6(ABCC8):c.2473C>A (p.Arg825=)
|
rs779736828
|
0.00002
|
|
NM_000352.6(ABCC8):c.2634C>T (p.Asp878=)
|
rs754554936
|
0.00002
|
|
NM_000352.6(ABCC8):c.702C>T (p.Asn234=)
|
rs758289249
|
0.00002
|
|
NM_000368.5(TSC1):c.3075C>T (p.Ser1025=)
|
rs765753157
|
0.00002
|
|
NM_000368.5(TSC1):c.597C>T (p.Phe199=)
|
rs202242304
|
0.00002
|
|
NM_000371.4(TTR):c.78T>C (p.Gly26=)
|
rs779457244
|
0.00002
|
|
NM_000377.3(WAS):c.420C>T (p.Leu140=)
|
rs782639067
|
0.00002
|
|
NM_000379.4(XDH):c.786G>A (p.Thr262=)
|
rs201436175
|
0.00002
|
|
NM_000384.3(APOB):c.4260A>C (p.Leu1420=)
|
rs753403908
|
0.00002
|
|
NM_000384.3(APOB):c.9933A>G (p.Arg3311=)
|
rs760815948
|
0.00002
|
|
NM_000388.4(CASR):c.1377+17T>C
|
rs200650843
|
0.00002
|
|
NM_000388.4(CASR):c.675A>G (p.Lys225=)
|
rs202226622
|
0.00002
|
|
NM_000388.4(CASR):c.909C>G (p.Ser303=)
|
rs375005541
|
0.00002
|
|
NM_000463.3(UGT1A1):c.72G>A (p.Val24=)
|
rs764918207
|
0.00002
|
|
NM_000478.6(ALPL):c.1437C>T (p.Tyr479=)
|
rs527657489
|
0.00002
|
|
NM_000478.6(ALPL):c.863-8C>T
|
rs775518662
|
0.00002
|
|
NM_000486.6(AQP2):c.438C>T (p.Phe146=)
|
rs143886391
|
0.00002
|
|
NM_000487.6(ARSA):c.12G>A (p.Gly4=)
|
rs1160649029
|
0.00002
|
|
NM_000497.4(CYP11B1):c.1227T>G (p.Ser409=)
|
rs765770519
|
0.00002
|
|
NM_000498.3(CYP11B2):c.945C>T (p.Ser315=)
|
rs759178574
|
0.00002
|
|
NM_000498.3(CYP11B2):c.996G>C (p.Arg332=)
|
rs781061958
|
0.00002
|
|
NM_000503.6(EYA1):c.107C>T (p.Thr36Ile)
|
rs727503048
|
0.00002
|
|
NM_000518.5(HBB):c.262A>C (p.Thr88Pro)
|
rs35553496
|
0.00002
|
|
NM_000527.5(LDLR):c.408C>T (p.Asp136=)
|
rs759738744
|
0.00002
|
|
NM_000540.3(RYR1):c.11091C>T (p.Pro3697=)
|
rs201296563
|
0.00002
|
|
NM_000540.3(RYR1):c.1533C>T (p.Ala511=)
|
rs758172706
|
0.00002
|
|
NM_000540.3(RYR1):c.2787-16A>G
|
rs998030731
|
0.00002
|
|
NM_000546.6(TP53):c.-12C>T
|
rs375229869
|
0.00002
|
|
NM_000548.5(TSC2):c.1119+6G>C
|
rs397515305
|
0.00002
|
|
NM_000548.5(TSC2):c.2098-18C>T
|
rs1246072517
|
0.00002
|
|
NM_000548.5(TSC2):c.3284+11C>A
|
rs769334480
|
0.00002
|
|
NM_000548.5(TSC2):c.3957C>T (p.Asp1319=)
|
rs757244510
|
0.00002
|
|
NM_000548.5(TSC2):c.4180C>T (p.Leu1394=)
|
rs911307922
|
0.00002
|
|
NM_000548.5(TSC2):c.5161-8G>A
|
rs374674097
|
0.00002
|
|
NM_000548.5(TSC2):c.5193C>T (p.Asn1731=)
|
rs753336580
|
0.00002
|
|
NM_000548.5(TSC2):c.5260-12C>T
|
rs769264472
|
0.00002
|
|
NM_000548.5(TSC2):c.5415G>A (p.Glu1805=)
|
rs982803529
|
0.00002
|
|
NM_000548.5(TSC2):c.976-16C>T
|
rs773016098
|
0.00002
|
|
NM_000551.4(VHL):c.267C>A (p.Leu89=)
|
rs755794553
|
0.00002
|
|
NM_000642.3(AGL):c.966G>A (p.Arg322=)
|
rs199905460
|
0.00002
|
|
NM_000719.7(CACNA1C):c.6282C>G (p.Leu2094=)
|
rs1337662531
|
0.00002
|
|
NM_000743.5(CHRNA3):c.459C>T (p.Ala153=)
|
rs202207061
|
0.00002
|
|
NM_000789.4(ACE):c.249+15C>G
|
rs1392845930
|
0.00002
|
|
NM_000834.5(GRIN2B):c.4105G>A (p.Gly1369Ser)
|
rs371190262
|
0.00002
|
|
NM_000969.5(RPL5):c.794+8G>A
|
rs907325546
|
0.00002
|
|
NM_001005242.3(PKP2):c.1379-2071G>A
|
rs776244945
|
0.00002
|
|
NM_001005242.3(PKP2):c.2316C>T (p.Thr772=)
|
rs369837002
|
0.00002
|
|
NM_001009944.3(PKD1):c.747C>T (p.Ser249=)
|
rs568816990
|
0.00002
|
|
NM_001009944.3(PKD1):c.9713-17C>G
|
rs766238514
|
0.00002
|
|
NM_001013838.3(CARMIL2):c.3894G>A (p.Ala1298=)
|
rs367879956
|
0.00002
|
|
NM_001018113.3(FANCB):c.2385T>C (p.Ser795=)
|
rs1034395123
|
0.00002
|
|
NM_001018115.3(FANCD2):c.2751A>G (p.Leu917=)
|
rs766286504
|
0.00002
|
|
NM_001018115.3(FANCD2):c.377+17T>C
|
rs45593431
|
0.00002
|
|
NM_001018115.3(FANCD2):c.469T>C (p.Leu157=)
|
rs373600764
|
0.00002
|
|
NM_001023570.4(IQCB1):c.288A>G (p.Pro96=)
|
rs376703708
|
0.00002
|
|
NM_001029.5(RPS26):c.207G>C (p.Val69=)
|
rs776240183
|
0.00002
|
|
NM_001035.3(RYR2):c.11982G>A (p.Thr3994=)
|
rs368634803
|
0.00002
|
|
NM_001035.3(RYR2):c.8742G>A (p.Thr2914=)
|
rs751520306
|
0.00002
|
|
NM_001037333.3(CYFIP2):c.1299A>G (p.Glu433=)
|
rs372259482
|
0.00002
|
|
NM_001041.4(SI):c.3888+12G>A
|
rs766861562
|
0.00002
|
|
NM_001041.4(SI):c.969T>C (p.Phe323=)
|
rs780057549
|
0.00002
|
|
NM_001042492.3(NF1):c.3441T>C (p.Leu1147=)
|
rs747330799
|
0.00002
|
|
NM_001042492.3(NF1):c.4668T>C (p.Asp1556=)
|
rs763874870
|
0.00002
|
|
NM_001042492.3(NF1):c.587-20A>T
|
rs776533188
|
0.00002
|
|
NM_001042492.3(NF1):c.7615+7T>C
|
rs779078444
|
0.00002
|
|
NM_001042492.3(NF1):c.8160+9A>C
|
rs997202389
|
0.00002
|
|
NM_001042492.3(NF1):c.8385C>T (p.Asp2795=)
|
rs144635489
|
0.00002
|
|
NM_001046.3(SLC12A2):c.2475+11A>G
|
rs763550873
|
0.00002
|
|
NM_001077365.2(POMT1):c.1699-19A>G
|
rs761855332
|
0.00002
|
|
NM_001080517.3(SETD5):c.541G>A (p.Ala181Thr)
|
rs568483869
|
0.00002
|
|
NM_001081.4(CUBN):c.5841C>T (p.Ser1947=)
|
rs199868206
|
0.00002
|
|
NM_001099922.3(ALG13):c.2278G>T (p.Ala760Ser)
|
rs773286994
|
0.00002
|
|
NM_001099922.3(ALG13):c.2369G>A (p.Gly790Glu)
|
rs745411126
|
0.00002
|
|
NM_001099922.3(ALG13):c.541A>G (p.Thr181Ala)
|
rs774646647
|
0.00002
|
|
NM_001099922.3(ALG13):c.886-19A>G
|
rs773121084
|
0.00002
|
|
NM_001105206.3(LAMA4):c.5029C>T (p.Arg1677Cys)
|
rs587753056
|
0.00002
|
|
NM_001110556.2(FLNA):c.5283C>T (p.Tyr1761=)
|
rs782313331
|
0.00002
|
|
NM_001113378.2(FANCI):c.1112+8G>C
|
rs761741904
|
0.00002
|
|
NM_001113378.2(FANCI):c.1513-16A>C
|
rs768296894
|
0.00002
|
|
NM_001113378.2(FANCI):c.1923G>A (p.Leu641=)
|
rs750462548
|
0.00002
|
|
NM_001113378.2(FANCI):c.976-5T>C
|
rs775680372
|
0.00002
|
|
NM_001122630.2(CDKN1C):c.51C>T (p.Ser17=)
|
rs1216953646
|
0.00002
|
|
NM_001126108.2(SLC12A3):c.2121C>G (p.Ala707=)
|
rs762500731
|
0.00002
|
|
NM_001126108.2(SLC12A3):c.2419+8G>A
|
rs372318235
|
0.00002
|
|
NM_001128178.3(NPHP1):c.1434C>T (p.His478=)
|
rs148809478
|
0.00002
|
|
NM_001128225.3(SLC39A13):c.302-7C>G
|
rs746687344
|
0.00002
|
|
NM_001130823.3(DNMT1):c.3999C>T (p.Ala1333=)
|
rs747144567
|
0.00002
|
|
NM_001134363.3(RBM20):c.2709T>A (p.Thr903=)
|
rs1481403925
|
0.00002
|
|
NM_001134831.2(AHI1):c.2623+12T>C
|
rs763402338
|
0.00002
|
|
NM_001136193.2(FASTKD2):c.1698G>A (p.Pro566=)
|
rs151258385
|
0.00002
|
|
NM_001144967.3(NEDD4L):c.1575+13C>T
|
rs747040965
|
0.00002
|
|
NM_001144967.3(NEDD4L):c.1768-12T>C
|
rs938358563
|
0.00002
|
|
NM_001144967.3(NEDD4L):c.2202A>G (p.Pro734=)
|
rs1394230991
|
0.00002
|
|
NM_001148.6(ANK2):c.11616C>T (p.Asp3872=)
|
rs768755447
|
0.00002
|
|
NM_001148.6(ANK2):c.9681C>T (p.Thr3227=)
|
rs144466117
|
0.00002
|
|
NM_001163809.2(WDR81):c.5607C>T (p.Ser1869=)
|
rs760895795
|
0.00002
|
|
NM_001171.6(ABCC6):c.2649C>T (p.Pro883=)
|
rs373335815
|
0.00002
|
|
NM_001171.6(ABCC6):c.3422G>A (p.Arg1141Gln)
|
rs572351621
|
0.00002
|
|
NM_001197104.2(KMT2A):c.3635-7C>T
|
rs782489094
|
0.00002
|
|
NM_001243133.2(NLRP3):c.219C>T (p.Phe73=)
|
rs201980166
|
0.00002
|
|
NM_001243133.2(NLRP3):c.2856G>A (p.Thr952=)
|
rs200474558
|
0.00002
|
|
NM_001267550.2(TTN):c.1332C>T (p.Ser444=)
|
rs759520186
|
0.00002
|
|
NM_001267550.2(TTN):c.2160T>G (p.Pro720=)
|
rs776860277
|
0.00002
|
|
NM_001267550.2(TTN):c.36281-13A>T
|
rs751095834
|
0.00002
|
|
NM_001267550.2(TTN):c.36532+13G>A
|
rs758624046
|
0.00002
|
|
NM_001267550.2(TTN):c.43656G>A (p.Ser14552=)
|
rs376851369
|
0.00002
|
|
NM_001267550.2(TTN):c.5583C>T (p.Arg1861=)
|
rs368972275
|
0.00002
|
|
NM_001267550.2(TTN):c.60003G>A (p.Pro20001=)
|
rs753118050
|
0.00002
|
|
NM_001267550.2(TTN):c.63793+9del
|
rs771033923
|
0.00002
|
|
NM_001267550.2(TTN):c.80898T>C (p.Ser26966=)
|
rs374042845
|
0.00002
|
|
NM_001267550.2(TTN):c.84633T>C (p.Asp28211=)
|
rs1211159517
|
0.00002
|
|
NM_001282225.2(ADA2):c.1082-10G>A
|
rs772238679
|
0.00002
|
|
NM_001282225.2(ADA2):c.717C>T (p.Asn239=)
|
rs142247490
|
0.00002
|
|
NM_001288705.3(CSF1R):c.1938C>T (p.Ile646=)
|
rs567813801
|
0.00002
|
|
NM_001289104.2(PRKCSH):c.753G>A (p.Ala251=)
|
rs756127892
|
0.00002
|
|
NM_001289104.2(PRKCSH):c.975G>A (p.Glu325=)
|
rs775357974
|
0.00002
|
|
NM_001303.4(COX10):c.695+11G>A
|
rs201826759
|
0.00002
|
|
NM_001358921.2(COQ2):c.831G>A (p.Pro277=)
|
rs757390151
|
0.00002
|
|
NM_001358921.2(COQ2):c.885G>A (p.Val295=)
|
rs533968602
|
0.00002
|
|
NM_001360.3(DHCR7):c.279G>A (p.Thr93=)
|
rs774554996
|
0.00002
|
|
NM_001360.3(DHCR7):c.543G>C (p.Leu181=)
|
rs146839126
|
0.00002
|
|
NM_001367721.1(CASK):c.2424C>T (p.Tyr808=)
|
rs779629178
|
0.00002
|
|
NM_001370595.2(COA8):c.81T>C (p.Ala27=)
|
rs1268847789
|
0.00002
|
|
NM_001371596.2(MFSD8):c.553+20C>T
|
rs542955531
|
0.00002
|
|
NM_001378454.1(ALMS1):c.11499A>G (p.Thr3833=)
|
rs762899971
|
0.00002
|
|
NM_001378454.1(ALMS1):c.11550A>G (p.Val3850=)
|
rs45630561
|
0.00002
|
|
NM_001378454.1(ALMS1):c.1237+8C>A
|
rs771449454
|
0.00002
|
|
NM_001378454.1(ALMS1):c.1884T>C (p.Pro628=)
|
rs373831151
|
0.00002
|
|
NM_001378454.1(ALMS1):c.2502T>C (p.Ala834=)
|
rs761599987
|
0.00002
|
|
NM_001378454.1(ALMS1):c.3591A>G (p.Lys1197=)
|
rs773852068
|
0.00002
|
|
NM_001378454.1(ALMS1):c.4221C>T (p.Asn1407=)
|
rs761902133
|
0.00002
|
|
NM_001378454.1(ALMS1):c.5163C>T (p.Phe1721=)
|
rs1222275039
|
0.00002
|
|
NM_001378454.1(ALMS1):c.5565G>A (p.Glu1855=)
|
rs535259433
|
0.00002
|
|
NM_001378454.1(ALMS1):c.9231G>A (p.Ala3077=)
|
rs1328459312
|
0.00002
|
|
NM_001382391.1(CSPP1):c.3645T>G (p.Thr1215=)
|
rs749332092
|
0.00002
|
|
NM_001384732.1(CPLANE1):c.1623A>G (p.Glu541=)
|
rs1420586506
|
0.00002
|
|
NM_001384732.1(CPLANE1):c.3508-19A>G
|
rs754906346
|
0.00002
|
|
NM_001384732.1(CPLANE1):c.5738-5G>A
|
rs570312147
|
0.00002
|
|
NM_001458.5(FLNC):c.5580C>G (p.Arg1860=)
|
rs955205184
|
0.00002
|
|
NM_001692.4(ATP6V1B1):c.435G>A (p.Leu145=)
|
rs781880491
|
0.00002
|
|
NM_001692.4(ATP6V1B1):c.45T>C (p.Ser15=)
|
rs1045132687
|
0.00002
|
|
NM_001715.3(BLK):c.27G>A (p.Pro9=)
|
rs536630306
|
0.00002
|
|
NM_001735.3(C5):c.1716+7C>G
|
rs764673418
|
0.00002
|
|
NM_001735.3(C5):c.4162+20C>T
|
rs56094365
|
0.00002
|
|
NM_001845.6(COL4A1):c.1381+8A>G
|
rs1054421900
|
0.00002
|
|
NM_001845.6(COL4A1):c.1656C>T (p.Pro552=)
|
rs576690537
|
0.00002
|
|
NM_001845.6(COL4A1):c.2244C>T (p.Pro748=)
|
rs755340790
|
0.00002
|
|
NM_001845.6(COL4A1):c.3831C>T (p.Pro1277=)
|
rs779198670
|
0.00002
|
|
NM_001845.6(COL4A1):c.4929-10C>T
|
rs369534245
|
0.00002
|
|
NM_001853.4(COL9A3):c.577-20G>A
|
rs928285792
|
0.00002
|
|
NM_001875.5(CPS1):c.2623A>G (p.Lys875Glu)
|
rs147062907
|
0.00002
|
|
NM_001909.5(CTSD):c.717G>A (p.Ala239=)
|
rs368699900
|
0.00002
|
|
NM_002049.4(GATA1):c.599-9C>T
|
rs1369447266
|
0.00002
|
|
NM_002087.4(GRN):c.723C>T (p.Ser241=)
|
rs200408271
|
0.00002
|
|
NM_002204.4(ITGA3):c.1538-4G>A
|
rs746140749
|
0.00002
|
|
NM_002230.4(JUP):c.2087-18C>T
|
rs776307936
|
0.00002
|
|
NM_002230.4(JUP):c.447A>G (p.Lys149=)
|
rs199853316
|
0.00002
|
|
NM_002241.5(KCNJ10):c.927C>T (p.Tyr309=)
|
rs775091787
|
0.00002
|
|
NM_002334.4(LRP4):c.3939C>T (p.Cys1313=)
|
rs779892727
|
0.00002
|
|
NM_002335.4(LRP5):c.1801+9G>A
|
rs747941034
|
0.00002
|
|
NM_002335.4(LRP5):c.1923C>T (p.Ile641=)
|
rs17848264
|
0.00002
|
|
NM_002335.4(LRP5):c.2022C>T (p.Val674=)
|
rs748257457
|
0.00002
|
|
NM_002335.4(LRP5):c.3606T>C (p.His1202=)
|
rs779308864
|
0.00002
|
|
NM_002335.4(LRP5):c.3873C>T (p.Asp1291=)
|
rs1036528598
|
0.00002
|
|
NM_002335.4(LRP5):c.4248G>A (p.Ala1416=)
|
rs17848257
|
0.00002
|
|
NM_002335.4(LRP5):c.4638C>T (p.Asp1546=)
|
rs777923928
|
0.00002
|
|
NM_002471.4(MYH6):c.3477G>A (p.Thr1159=)
|
rs573242724
|
0.00002
|
|
NM_002473.6(MYH9):c.2838+10C>T
|
rs1027216058
|
0.00002
|
|
NM_002473.6(MYH9):c.2844T>G (p.Leu948=)
|
rs763022319
|
0.00002
|
|
NM_002473.6(MYH9):c.3272+19C>T
|
rs984743795
|
0.00002
|
|
NM_002474.3(MYH11):c.2082G>A (p.Leu694=)
|
rs370934806
|
0.00002
|
|
NM_002485.5(NBN):c.995-17A>G
|
rs372875251
|
0.00002
|
|
NM_002661.5(PLCG2):c.1437G>A (p.Gly479=)
|
rs755597785
|
0.00002
|
|
NM_002661.5(PLCG2):c.1733+11C>T
|
rs750585339
|
0.00002
|
|
NM_002661.5(PLCG2):c.1935-4G>A
|
rs762488045
|
0.00002
|
|
NM_002661.5(PLCG2):c.246C>T (p.Phe82=)
|
rs771764012
|
0.00002
|
|
NM_002661.5(PLCG2):c.2740-13G>A
|
rs1280371637
|
0.00002
|
|
NM_002661.5(PLCG2):c.3072T>C (p.Asn1024=)
|
rs755927399
|
0.00002
|
|
NM_002661.5(PLCG2):c.3199-16C>T
|
rs201410855
|
0.00002
|
|
NM_002834.5(PTPN11):c.327T>G (p.Ser109=)
|
rs1039250039
|
0.00002
|
|
NM_002880.4(RAF1):c.1113T>C (p.Asp371=)
|
rs146668293
|
0.00002
|
|
NM_003242.6(TGFBR2):c.927G>A (p.Thr309=)
|
rs756625146
|
0.00002
|
|
NM_003640.5(ELP1):c.2587+10C>T
|
rs771045250
|
0.00002
|
|
NM_003640.5(ELP1):c.3324C>T (p.Asn1108=)
|
rs372541751
|
0.00002
|
|
NM_003640.5(ELP1):c.447T>C (p.His149=)
|
rs775602185
|
0.00002
|
|
NM_003659.4(AGPS):c.1245G>A (p.Pro415=)
|
rs200344160
|
0.00002
|
|
NM_003673.4(TCAP):c.267G>A (p.Leu89=)
|
rs1419129039
|
0.00002
|
|
NM_003982.4(SLC7A7):c.1429+8G>A
|
rs201766738
|
0.00002
|
|
NM_004006.3(DMD):c.2842A>G (p.Met948Val)
|
rs186628781
|
0.00002
|
|
NM_004100.5(EYA4):c.370+16C>T
|
rs376239950
|
0.00002
|
|
NM_004252.5(NHERF1):c.85C>A (p.His29Asn)
|
rs765897805
|
0.00002
|
|
NM_004281.4(BAG3):c.1239C>T (p.Ala413=)
|
rs201137108
|
0.00002
|
|
NM_004281.4(BAG3):c.897C>T (p.Val299=)
|
rs763915884
|
0.00002
|
|
NM_004333.6(BRAF):c.1433-18G>A
|
rs763267814
|
0.00002
|
|
NM_004366.6(CLCN2):c.2499G>A (p.Lys833=)
|
rs368782176
|
0.00002
|
|
NM_004380.3(CREBBP):c.2464-7C>G
|
rs772258017
|
0.00002
|
|
NM_004380.3(CREBBP):c.2482G>T (p.Ala828Ser)
|
rs779000839
|
0.00002
|
|
NM_004380.3(CREBBP):c.3021G>C (p.Glu1007Asp)
|
rs774653315
|
0.00002
|
|
NM_004380.3(CREBBP):c.7116G>A (p.Ser2372=)
|
rs758454751
|
0.00002
|
|
NM_004415.4(DSP):c.5193C>T (p.Tyr1731=)
|
rs201663619
|
0.00002
|
|
NM_004484.4(GPC3):c.175+12T>G
|
rs765877667
|
0.00002
|
|
NM_004519.4(KCNQ3):c.1568+8C>T
|
rs370337209
|
0.00002
|
|
NM_004525.3(LRP2):c.10803C>T (p.Cys3601=)
|
rs370876114
|
0.00002
|
|
NM_004525.3(LRP2):c.427+18C>T
|
rs775148958
|
0.00002
|
|
NM_004525.3(LRP2):c.8831-16C>T
|
rs775327679
|
0.00002
|
|
NM_004525.3(LRP2):c.9876T>C (p.Asp3292=)
|
rs749452281
|
0.00002
|
|
NM_004560.4(ROR2):c.2478G>A (p.Pro826=)
|
rs145213893
|
0.00002
|
|
NM_004560.4(ROR2):c.954C>T (p.Asn318=)
|
rs553026289
|
0.00002
|
|
NM_004589.4(SCO1):c.744C>T (p.Gly248=)
|
rs768270136
|
0.00002
|
|
NM_004621.6(TRPC6):c.1294-4G>A
|
rs190191809
|
0.00002
|
|
NM_004646.4(NPHS1):c.2394G>A (p.Thr798=)
|
rs745911246
|
0.00002
|
|
NM_004646.4(NPHS1):c.2523G>A (p.Glu841=)
|
rs1215088730
|
0.00002
|
|
NM_004646.4(NPHS1):c.841-12C>G
|
rs532123637
|
0.00002
|
|
NM_004646.4(NPHS1):c.915C>T (p.Thr305=)
|
rs751438123
|
0.00002
|
|
NM_004646.4(NPHS1):c.939G>A (p.Ala313=)
|
rs775863701
|
0.00002
|
|
NM_004656.4(BAP1):c.931+8G>A
|
rs573724882
|
0.00002
|
|
NM_004795.4(KL):c.2811C>T (p.Pro937=)
|
rs751273061
|
0.00002
|
|
NM_004836.7(EIF2AK3):c.633+15T>C
|
rs776777727
|
0.00002
|
|
NM_004937.3(CTNS):c.61+20G>A
|
rs760019018
|
0.00002
|
|
NM_005159.5(ACTC1):c.456C>T (p.Gly152=)
|
rs771310484
|
0.00002
|
|
NM_005188.4(CBL):c.1927C>T (p.Leu643=)
|
rs139939244
|
0.00002
|
|
NM_005334.3(HCFC1):c.2394C>T (p.Ile798=)
|
rs782244636
|
0.00002
|
|
NM_005378.6(MYCN):c.612C>T (p.Pro204=)
|
rs767651526
|
0.00002
|
|
NM_005477.3(HCN4):c.1401C>T (p.Tyr467=)
|
rs753580737
|
0.00002
|
|
NM_005477.3(HCN4):c.2916C>T (p.Pro972=)
|
rs559422705
|
0.00002
|
|
NM_005506.4(SCARB2):c.824+20G>A
|
rs1257697437
|
0.00002
|
|
NM_005566.4(LDHA):c.-24-10C>G
|
rs200267888
|
0.00002
|
|
NM_005982.4(SIX1):c.465G>A (p.Arg155=)
|
rs748903952
|
0.00002
|
|
NM_006031.6(PCNT):c.9174G>A (p.Ala3058=)
|
rs554275370
|
0.00002
|
|
NM_006059.4(LAMC3):c.1524C>T (p.Ala508=)
|
rs753711099
|
0.00002
|
|
NM_006073.4(TRDN):c.931+10T>A
|
rs754118635
|
0.00002
|
|
NM_006208.3(ENPP1):c.1274-5C>T
|
rs751500820
|
0.00002
|
|
NM_006231.4(POLE):c.318T>C (p.Ile106=)
|
rs770759936
|
0.00002
|
|
NM_006267.5(RANBP2):c.4331C>T (p.Ala1444Val)
|
rs150309568
|
0.00002
|
|
NM_006306.4(SMC1A):c.1578A>G (p.Thr526=)
|
rs1210222346
|
0.00002
|
|
NM_006306.4(SMC1A):c.2124G>A (p.Leu708=)
|
rs1309209851
|
0.00002
|
|
NM_006306.4(SMC1A):c.2598C>A (p.Thr866=)
|
rs781991944
|
0.00002
|
|
NM_006306.4(SMC1A):c.915C>T (p.Thr305=)
|
rs782522248
|
0.00002
|
|
NM_006662.3(SRCAP):c.2328T>C (p.Thr776=)
|
rs368981651
|
0.00002
|
|
NM_006662.3(SRCAP):c.3168C>T (p.Ala1056=)
|
rs765152833
|
0.00002
|
|
NM_007294.4(BRCA1):c.824G>A (p.Gly275Asp)
|
rs397509327
|
0.00002
|
|
NM_007373.4(SHOC2):c.38A>C (p.Glu13Ala)
|
rs730881018
|
0.00002
|
|
NM_012203.2(GRHPR):c.108G>A (p.Ser36=)
|
rs377072887
|
0.00002
|
|
NM_012210.4(TRIM32):c.1728C>T (p.Arg576=)
|
rs774825642
|
0.00002
|
|
NM_012330.4(KAT6B):c.1539C>T (p.Ala513=)
|
rs774605212
|
0.00002
|
|
NM_012330.4(KAT6B):c.3122C>T (p.Ser1041Leu)
|
rs377321963
|
0.00002
|
|
NM_012330.4(KAT6B):c.510G>A (p.Pro170=)
|
rs750020725
|
0.00002
|
|
NM_012431.3(SEMA3E):c.1725A>G (p.Gln575=)
|
rs574901886
|
0.00002
|
|
NM_014009.4(FOXP3):c.736-14G>A
|
rs76798919
|
0.00002
|
|
NM_014140.4(SMARCAL1):c.2583C>T (p.Thr861=)
|
rs766357613
|
0.00002
|
|
NM_014270.5(SLC7A9):c.468C>T (p.Ala156=)
|
rs770249299
|
0.00002
|
|
NM_014270.5(SLC7A9):c.864G>A (p.Ala288=)
|
rs781259784
|
0.00002
|
|
NM_014339.7(IL17RA):c.944-5C>T
|
rs370875549
|
0.00002
|
|
NM_014714.4(IFT140):c.2691C>T (p.Arg897=)
|
rs776456361
|
0.00002
|
|
NM_014714.4(IFT140):c.312C>T (p.Ala104=)
|
rs138263672
|
0.00002
|
|
NM_014727.3(KMT2B):c.1847G>A (p.Arg616Gln)
|
rs375135657
|
0.00002
|
|
NM_014967.5(FAN1):c.2763C>T (p.Arg921=)
|
rs756058541
|
0.00002
|
|
NM_015102.5(NPHP4):c.3051C>T (p.Ile1017=)
|
rs753246840
|
0.00002
|
|
NM_015158.5(KANK1):c.3744C>T (p.Asp1248=)
|
rs762794892
|
0.00002
|
|
NM_015272.5(RPGRIP1L):c.1770T>C (p.Ser590=)
|
rs966605945
|
0.00002
|
|
NM_015272.5(RPGRIP1L):c.231-4C>A
|
rs774628905
|
0.00002
|
|
NM_015335.5(MED13L):c.4788T>A (p.Ile1596=)
|
rs757338321
|
0.00002
|
|
NM_015386.3(COG4):c.811A>G (p.Ile271Val)
|
rs551058375
|
0.00002
|
|
NM_015443.4(KANSL1):c.1110T>C (p.Phe370=)
|
rs374053775
|
0.00002
|
|
NM_015443.4(KANSL1):c.1290-20C>T
|
rs373424916
|
0.00002
|
|
NM_015443.4(KANSL1):c.2262G>A (p.Val754=)
|
rs141092796
|
0.00002
|
|
NM_015506.3(MMACHC):c.574C>T (p.Leu192=)
|
rs762919217
|
0.00002
|
|
NM_015506.3(MMACHC):c.606T>C (p.Asp202=)
|
rs748881103
|
0.00002
|
|
NM_015662.3(IFT172):c.1693-19G>T
|
rs202039261
|
0.00002
|
|
NM_015662.3(IFT172):c.4228G>T (p.Val1410Leu)
|
rs777573615
|
0.00002
|
|
NM_015662.3(IFT172):c.4656G>A (p.Gln1552=)
|
rs530107456
|
0.00002
|
|
NM_015910.7(WDPCP):c.634-12T>A
|
rs779141559
|
0.00002
|
|
NM_016341.4(PLCE1):c.5670G>A (p.Pro1890=)
|
rs370864800
|
0.00002
|
|
NM_017415.3(KLHL3):c.966C>T (p.Phe322=)
|
rs750511635
|
0.00002
|
|
NM_017662.5(TRPM6):c.5415C>A (p.Ser1805=)
|
rs150150126
|
0.00002
|
|
NM_017780.4(CHD7):c.288C>T (p.Asn96=)
|
rs754953018
|
0.00002
|
|
NM_017780.4(CHD7):c.4185+19C>T
|
rs767064028
|
0.00002
|
|
NM_017780.4(CHD7):c.8367G>A (p.Ala2789=)
|
rs752708986
|
0.00002
|
|
NM_017802.4(DNAAF5):c.1626G>A (p.Thr542=)
|
rs368538461
|
0.00002
|
|
NM_017827.4(SARS2):c.534+9C>T
|
rs200404554
|
0.00002
|
|
NM_018417.6(ADCY10):c.1668C>T (p.Thr556=)
|
rs200361556
|
0.00002
|
|
NM_018979.4(WNK1):c.1401-7T>C
|
rs764009301
|
0.00002
|
|
NM_018979.4(WNK1):c.6120C>T (p.Ser2040=)
|
rs142439139
|
0.00002
|
|
NM_018979.4(WNK1):c.6643+13C>T
|
rs765477070
|
0.00002
|
|
NM_019109.5(ALG1):c.579G>A (p.Leu193=)
|
rs750145784
|
0.00002
|
|
NM_020041.3(SLC2A9):c.795C>T (p.Asn265=)
|
rs112580274
|
0.00002
|
|
NM_020041.3(SLC2A9):c.843C>T (p.Asp281=)
|
rs374095603
|
0.00002
|
|
NM_020208.4(SLC6A20):c.1092A>T (p.Leu364=)
|
rs371002443
|
0.00002
|
|
NM_020297.4(ABCC9):c.3462G>A (p.Arg1154=)
|
rs1336342134
|
0.00002
|
|
NM_020381.4(PDSS2):c.348G>T (p.Val116=)
|
rs779485875
|
0.00002
|
|
NM_020461.4(TUBGCP6):c.4339T>C (p.Leu1447=)
|
rs771701036
|
0.00002
|
|
NM_020529.3(NFKBIA):c.636+19C>T
|
rs759618202
|
0.00002
|
|
NM_020632.3(ATP6V0A4):c.417+8C>T
|
rs767661194
|
0.00002
|
|
NM_020822.3(KCNT1):c.1038C>T (p.Phe346=)
|
rs767434859
|
0.00002
|
|
NM_020937.4(FANCM):c.3513T>C (p.Pro1171=)
|
rs771150480
|
0.00002
|
|
NM_020975.6(RET):c.144G>A (p.Thr48=)
|
rs759872307
|
0.00002
|
|
NM_020975.6(RET):c.2358T>C (p.His786=)
|
rs758715544
|
0.00002
|
|
NM_020975.6(RET):c.2393-9C>T
|
rs567543719
|
0.00002
|
|
NM_020975.6(RET):c.723C>T (p.Ala241=)
|
rs544252468
|
0.00002
|
|
NM_020975.6(RET):c.825C>T (p.Gly275=)
|
rs150797149
|
0.00002
|
|
NM_021098.3(CACNA1H):c.1128G>A (p.Thr376=)
|
rs1338263000
|
0.00002
|
|
NM_021098.3(CACNA1H):c.1719C>T (p.His573=)
|
rs964041008
|
0.00002
|
|
NM_021098.3(CACNA1H):c.2541C>T (p.Cys847=)
|
rs201227047
|
0.00002
|
|
NM_021098.3(CACNA1H):c.4224-11C>T
|
rs371952675
|
0.00002
|
|
NM_021098.3(CACNA1H):c.5754G>A (p.Lys1918=)
|
rs764500957
|
0.00002
|
|
NM_021098.3(CACNA1H):c.6119C>T (p.Pro2040Leu)
|
rs776422410
|
0.00002
|
|
NM_021098.3(CACNA1H):c.6378C>T (p.Ala2126=)
|
rs780808265
|
0.00002
|
|
NM_021098.3(CACNA1H):c.644-7C>T
|
rs545310896
|
0.00002
|
|
NM_021922.3(FANCE):c.399C>T (p.Leu133=)
|
rs1056749845
|
0.00002
|
|
NM_022042.4(SLC26A1):c.654G>A (p.Gly218=)
|
rs375888392
|
0.00002
|
|
NM_022098.4(XPNPEP3):c.970-4C>T
|
rs752602313
|
0.00002
|
|
NM_022114.4(PRDM16):c.1116G>A (p.Gly372=)
|
rs757093442
|
0.00002
|
|
NM_022455.5(NSD1):c.1176C>T (p.Phe392=)
|
rs763543904
|
0.00002
|
|
NM_022455.5(NSD1):c.1992A>G (p.Glu664=)
|
rs770274186
|
0.00002
|
|
NM_022455.5(NSD1):c.3286C>T (p.His1096Tyr)
|
rs202208033
|
0.00002
|
|
NM_022455.5(NSD1):c.5510-10G>A
|
rs767198805
|
0.00002
|
|
NM_022489.4(INF2):c.1965C>T (p.Val655=)
|
rs752090814
|
0.00002
|
|
NM_022489.4(INF2):c.2498T>C (p.Leu833Pro)
|
rs575569437
|
0.00002
|
|
NM_022489.4(INF2):c.255G>T (p.Ser85=)
|
rs369037445
|
0.00002
|
|
NM_022489.4(INF2):c.2802G>A (p.Ala934=)
|
rs768008674
|
0.00002
|
|
NM_022489.4(INF2):c.2898G>T (p.Lys966Asn)
|
rs201180682
|
0.00002
|
|
NM_022489.4(INF2):c.372C>T (p.Tyr124=)
|
rs368077298
|
0.00002
|
|
NM_023110.3(FGFR1):c.1663+10G>A
|
rs901498652
|
0.00002
|
|
NM_023110.3(FGFR1):c.2238C>T (p.Thr746=)
|
rs774683007
|
0.00002
|
|
NM_023110.3(FGFR1):c.621+19G>A
|
rs945311072
|
0.00002
|
|
NM_024079.5(ALG8):c.95+16G>A
|
rs376357429
|
0.00002
|
|
NM_024408.4(NOTCH2):c.4998C>T (p.Val1666=)
|
rs765967094
|
0.00002
|
|
NM_024598.4(USB1):c.111C>T (p.Pro37=)
|
rs767672950
|
0.00002
|
|
NM_024649.5(BBS1):c.606C>T (p.Thr202=)
|
rs372141621
|
0.00002
|
|
NM_024675.4(PALB2):c.3432C>T (p.Leu1144=)
|
rs748363227
|
0.00002
|
|
NM_024685.4(BBS10):c.402A>G (p.Leu134=)
|
rs762331843
|
0.00002
|
|
NM_024685.4(BBS10):c.637T>C (p.Leu213=)
|
rs367795705
|
0.00002
|
|
NM_024685.4(BBS10):c.861A>G (p.Gln287=)
|
rs753223078
|
0.00002
|
|
NM_024753.5(TTC21B):c.2682T>G (p.Ser894=)
|
rs776376597
|
0.00002
|
|
NM_024753.5(TTC21B):c.2868+9A>G
|
rs1465172057
|
0.00002
|
|
NM_024753.5(TTC21B):c.318T>C (p.Ala106=)
|
rs747777604
|
0.00002
|
|
NM_025074.7(FRAS1):c.2826C>T (p.Cys942=)
|
rs775694534
|
0.00002
|
|
NM_025074.7(FRAS1):c.9330C>A (p.Ile3110=)
|
rs376083444
|
0.00002
|
|
NM_025074.7(FRAS1):c.9705C>A (p.Pro3235=)
|
rs774103279
|
0.00002
|
|
NM_025114.4(CEP290):c.4881A>G (p.Glu1627=)
|
rs778794581
|
0.00002
|
|
NM_025114.4(CEP290):c.5211G>A (p.Lys1737=)
|
rs747996508
|
0.00002
|
|
NM_025114.4(CEP290):c.549C>T (p.Tyr183=)
|
rs781004914
|
0.00002
|
|
NM_025132.4(WDR19):c.1357-8C>T
|
rs754713889
|
0.00002
|
|
NM_025132.4(WDR19):c.1752T>C (p.Tyr584=)
|
rs139391186
|
0.00002
|
|
NM_025132.4(WDR19):c.3624C>T (p.Asn1208=)
|
rs747334676
|
0.00002
|
|
NM_030662.4(MAP2K2):c.535C>T (p.Arg179Trp)
|
rs370799450
|
0.00002
|
|
NM_031885.5(BBS2):c.382T>C (p.Leu128=)
|
rs374060552
|
0.00002
|
|
NM_031885.5(BBS2):c.941-11C>T
|
rs763441369
|
0.00002
|
|
NM_031885.5(BBS2):c.941-6G>A
|
rs746397118
|
0.00002
|
|
NM_032444.4(SLX4):c.1977G>A (p.Ser659=)
|
rs572117922
|
0.00002
|
|
NM_032790.4(ORAI1):c.279G>C (p.Ser93=)
|
rs562258866
|
0.00002
|
|
NM_033305.3(VPS13A):c.3075C>T (p.Ser1025=)
|
rs916979346
|
0.00002
|
|
NM_033380.3(COL4A5):c.1546G>C (p.Glu516Gln)
|
rs770915647
|
0.00002
|
|
NM_033380.3(COL4A5):c.4016-16T>G
|
rs775007873
|
0.00002
|
|
NM_052989.3(IFT122):c.1629C>T (p.Ile543=)
|
rs372545849
|
0.00002
|
|
NM_052989.3(IFT122):c.2652G>A (p.Ala884=)
|
rs201147770
|
0.00002
|
|
NM_052989.3(IFT122):c.3504G>C (p.Val1168=)
|
rs368239028
|
0.00002
|
|
NM_052989.3(IFT122):c.42-17C>G
|
rs752213678
|
0.00002
|
|
NM_053025.4(MYLK):c.963G>A (p.Lys321=)
|
rs1052922812
|
0.00002
|
|
NM_057176.3(BSND):c.546C>T (p.Pro182=)
|
rs375551000
|
0.00002
|
|
NM_058216.3(RAD51C):c.1089G>A (p.Leu363=)
|
rs559647198
|
0.00002
|
|
NM_133259.4(LRPPRC):c.2079+10G>A
|
rs545497810
|
0.00002
|
|
NM_138694.4(PKHD1):c.10152C>T (p.Asn3384=)
|
rs774349380
|
0.00002
|
|
NM_138694.4(PKHD1):c.10233G>C (p.Val3411=)
|
rs1162292670
|
0.00002
|
|
NM_138694.4(PKHD1):c.108G>A (p.Thr36=)
|
rs779123303
|
0.00002
|
|
NM_138694.4(PKHD1):c.12117G>A (p.Lys4039=)
|
rs1268794606
|
0.00002
|
|
NM_138694.4(PKHD1):c.2550G>A (p.Leu850=)
|
rs140920157
|
0.00002
|
|
NM_138694.4(PKHD1):c.3629-16C>T
|
rs776260404
|
0.00002
|
|
NM_138694.4(PKHD1):c.7914C>T (p.Tyr2638=)
|
rs753436694
|
0.00002
|
|
NM_138694.4(PKHD1):c.9075C>T (p.Gly3025=)
|
rs200466480
|
0.00002
|
|
NM_145207.3(AFG2A):c.288+13T>C
|
rs765394285
|
0.00002
|
|
NM_148960.3(CLDN19):c.129C>T (p.Ala43=)
|
rs780859720
|
0.00002
|
|
NM_152296.5(ATP1A3):c.2819+12G>A
|
rs782653272
|
0.00002
|
|
NM_153006.3(NAGS):c.505A>T (p.Met169Leu)
|
rs569174201
|
0.00002
|
|
NM_153240.5(NPHP3):c.1308A>G (p.Gly436=)
|
rs777911324
|
0.00002
|
|
NM_153240.5(NPHP3):c.3813-10T>C
|
rs372263313
|
0.00002
|
|
NM_153704.6(TMEM67):c.2440-6T>C
|
rs532418578
|
0.00002
|
|
NM_153704.6(TMEM67):c.979-16C>T
|
rs757127826
|
0.00002
|
|
NM_170707.4(LMNA):c.1857T>C (p.Ser619=)
|
rs368581237
|
0.00002
|
|
NM_174936.4(PCSK9):c.159C>T (p.Ala53=)
|
rs759214329
|
0.00002
|
|
NM_174936.4(PCSK9):c.9C>T (p.Thr3=)
|
rs1465865735
|
0.00002
|
|
NM_175875.5(SIX5):c.108G>A (p.Leu36=)
|
rs532927547
|
0.00002
|
|
NM_175875.5(SIX5):c.1368C>T (p.Leu456=)
|
rs982154839
|
0.00002
|
|
NM_175875.5(SIX5):c.915C>T (p.Phe305=)
|
rs370303254
|
0.00002
|
|
NM_176824.3(BBS7):c.1305+13A>G
|
rs773872987
|
0.00002
|
|
NM_176824.3(BBS7):c.1755A>G (p.Thr585=)
|
rs1725022392
|
0.00002
|
|
NM_182643.3(DLC1):c.1348+9A>C
|
rs200908536
|
0.00002
|
|
NM_198252.3(GSN):c.2040C>T (p.Ile680=)
|
rs758909359
|
0.00002
|
|
NM_198428.3(BBS9):c.2633-15T>C
|
rs757904510
|
0.00002
|
|
NM_201596.3(CACNB2):c.1749C>G (p.Ala583=)
|
rs755387775
|
0.00002
|
|
NM_212482.4(FN1):c.2299+16C>T
|
rs201231230
|
0.00002
|
|
NM_212482.4(FN1):c.4143C>T (p.Pro1381=)
|
rs767010734
|
0.00002
|
|
NM_212482.4(FN1):c.4161C>A (p.Thr1387=)
|
rs370663743
|
0.00002
|
|
NM_212482.4(FN1):c.4719C>T (p.Tyr1573=)
|
rs147150819
|
0.00002
|
|
NM_212482.4(FN1):c.5511T>C (p.Asn1837=)
|
rs760293471
|
0.00002
|
|
NM_000016.6(ACADM):c.756C>T (p.Phe252=)
|
rs749692458
|
0.00001
|
|
NM_000019.4(ACAT1):c.1200T>C (p.His400=)
|
rs748749897
|
0.00001
|
|
NM_000026.4(ADSL):c.154-9A>G
|
rs762257005
|
0.00001
|
|
NM_000029.4(AGT):c.396C>T (p.Thr132=)
|
rs201189192
|
0.00001
|
|
NM_000030.3(AGXT):c.1174C>T (p.Leu392=)
|
rs180177167
|
0.00001
|
|
NM_000030.3(AGXT):c.375G>C (p.Pro125=)
|
rs754716643
|
0.00001
|
|
NM_000030.3(AGXT):c.596-10C>T
|
rs890462970
|
0.00001
|
|
NM_000030.3(AGXT):c.660C>T (p.Ile220=)
|
rs780078312
|
0.00001
|
|
NM_000030.3(AGXT):c.981C>T (p.Pro327=)
|
rs760409952
|
0.00001
|
|
NM_000039.3(APOA1):c.126C>T (p.Tyr42=)
|
rs1591331259
|
0.00001
|
|
NM_000051.4(ATM):c.8268+13A>T
|
rs1400036072
|
0.00001
|
|
NM_000053.4(ATP7B):c.1461G>A (p.Pro487=)
|
rs372068316
|
0.00001
|
|
NM_000053.4(ATP7B):c.1830G>A (p.Pro610=)
|
rs375689672
|
0.00001
|
|
NM_000053.4(ATP7B):c.1857C>A (p.Ile619=)
|
rs765501756
|
0.00001
|
|
NM_000053.4(ATP7B):c.2268G>A (p.Ala756=)
|
rs755387536
|
0.00001
|
|
NM_000053.4(ATP7B):c.2400C>T (p.Ala800=)
|
rs760562006
|
0.00001
|
|
NM_000053.4(ATP7B):c.2490C>T (p.Ile830=)
|
rs759213674
|
0.00001
|
|
NM_000053.4(ATP7B):c.2679C>T (p.Asp893=)
|
rs755739707
|
0.00001
|
|
NM_000053.4(ATP7B):c.2922G>A (p.Thr974=)
|
rs751802421
|
0.00001
|
|
NM_000053.4(ATP7B):c.4038C>T (p.Ile1346=)
|
rs200582826
|
0.00001
|
|
NM_000053.4(ATP7B):c.459C>T (p.Thr153=)
|
rs1009053966
|
0.00001
|
|
NM_000057.4(BLM):c.959+17A>G
|
rs1263627625
|
0.00001
|
|
NM_000059.4(BRCA2):c.10111A>G (p.Thr3371Ala)
|
rs80358393
|
0.00001
|
|
NM_000059.4(BRCA2):c.10113T>C (p.Thr3371=)
|
rs779075029
|
0.00001
|
|
NM_000059.4(BRCA2):c.1179T>C (p.Cys393=)
|
rs786201237
|
0.00001
|
|
NM_000059.4(BRCA2):c.2751A>G (p.Val917=)
|
rs765644162
|
0.00001
|
|
NM_000059.4(BRCA2):c.5028T>C (p.Ser1676=)
|
rs762458631
|
0.00001
|
|
NM_000059.4(BRCA2):c.6264T>C (p.Thr2088=)
|
rs750651726
|
0.00001
|
|
NM_000064.4(C3):c.1047G>C (p.Val349=)
|
rs747191565
|
0.00001
|
|
NM_000064.4(C3):c.1491G>A (p.Lys497=)
|
rs768360920
|
0.00001
|
|
NM_000064.4(C3):c.2118G>A (p.Ser706=)
|
rs755973774
|
0.00001
|
|
NM_000064.4(C3):c.2583+13G>A
|
rs774609150
|
0.00001
|
|
NM_000064.4(C3):c.3489+18T>C
|
rs747517809
|
0.00001
|
|
NM_000064.4(C3):c.3546C>T (p.Asn1182=)
|
rs189353964
|
0.00001
|
|
NM_000064.4(C3):c.4155C>T (p.Ile1385=)
|
rs563352895
|
0.00001
|
|
NM_000064.4(C3):c.4631-6C>T
|
rs775109096
|
0.00001
|
|
NM_000064.4(C3):c.4665C>G (p.Ser1555=)
|
rs542668902
|
0.00001
|
|
NM_000067.3(CA2):c.453C>T (p.Ser151=)
|
rs189189209
|
0.00001
|
|
NM_000069.3(CACNA1S):c.2658-10C>T
|
rs760659248
|
0.00001
|
|
NM_000069.3(CACNA1S):c.2766C>T (p.Phe922=)
|
rs376393159
|
0.00001
|
|
NM_000069.3(CACNA1S):c.2854-6C>T
|
rs1033462438
|
0.00001
|
|
NM_000069.3(CACNA1S):c.2922G>A (p.Val974=)
|
rs377715551
|
0.00001
|
|
NM_000069.3(CACNA1S):c.331T>C (p.Leu111=)
|
rs1453821550
|
0.00001
|
|
NM_000069.3(CACNA1S):c.3636G>A (p.Leu1212=)
|
rs774191804
|
0.00001
|
|
NM_000069.3(CACNA1S):c.3943C>T (p.Leu1315=)
|
rs1262731998
|
0.00001
|
|
NM_000069.3(CACNA1S):c.4242-10C>G
|
rs574154912
|
0.00001
|
|
NM_000069.3(CACNA1S):c.4242-4G>A
|
rs780264366
|
0.00001
|
|
NM_000069.3(CACNA1S):c.4374C>T (p.Asp1458=)
|
rs757017761
|
0.00001
|
|
NM_000069.3(CACNA1S):c.5048+8C>T
|
rs759622507
|
0.00001
|
|
NM_000069.3(CACNA1S):c.5135-7C>T
|
rs886038223
|
0.00001
|
|
NM_000069.3(CACNA1S):c.541+18T>A
|
rs760602154
|
0.00001
|
|
NM_000069.3(CACNA1S):c.541+7G>A
|
rs1218931598
|
0.00001
|
|
NM_000089.4(COL1A2):c.2861T>C (p.Ile954Thr)
|
rs538844573
|
0.00001
|
|
NM_000091.5(COL4A3):c.1539A>C (p.Pro513=)
|
rs749945759
|
0.00001
|
|
NM_000091.5(COL4A3):c.1860C>T (p.Pro620=)
|
rs376896231
|
0.00001
|
|
NM_000091.5(COL4A3):c.1944C>T (p.Leu648=)
|
rs199554662
|
0.00001
|
|
NM_000091.5(COL4A3):c.2040G>C (p.Gly680=)
|
rs776512229
|
0.00001
|
|
NM_000091.5(COL4A3):c.2489-5C>T
|
rs1351916467
|
0.00001
|
|
NM_000091.5(COL4A3):c.3337+15T>C
|
rs1230244758
|
0.00001
|
|
NM_000091.5(COL4A3):c.3498C>T (p.Ala1166=)
|
rs754567461
|
0.00001
|
|
NM_000091.5(COL4A3):c.3582G>T (p.Arg1194Ser)
|
rs761347389
|
0.00001
|
|
NM_000091.5(COL4A3):c.3816T>C (p.Ser1272=)
|
rs376887131
|
0.00001
|
|
NM_000091.5(COL4A3):c.4578A>C (p.Pro1526=)
|
rs1309123639
|
0.00001
|
|
NM_000091.5(COL4A3):c.45G>A (p.Pro15=)
|
rs542100614
|
0.00001
|
|
NM_000091.5(COL4A3):c.4851T>C (p.His1617=)
|
rs74379096
|
0.00001
|
|
NM_000091.5(COL4A3):c.933+9T>C
|
rs752703682
|
0.00001
|
|
NM_000092.5(COL4A4):c.2383+9G>C
|
rs746435134
|
0.00001
|
|
NM_000092.5(COL4A4):c.4803C>T (p.Phe1601=)
|
rs754693636
|
0.00001
|
|
NM_000093.5(COL5A1):c.1401C>T (p.Ile467=)
|
rs1452745305
|
0.00001
|
|
NM_000093.5(COL5A1):c.3669C>T (p.Pro1223=)
|
rs770392149
|
0.00001
|
|
NM_000093.5(COL5A1):c.786+11T>G
|
rs766319028
|
0.00001
|
|
NM_000094.4(COL7A1):c.2202G>A (p.Glu734=)
|
rs549271654
|
0.00001
|
|
NM_000094.4(COL7A1):c.8457T>C (p.Tyr2819=)
|
rs751768659
|
0.00001
|
|
NM_000098.3(CPT2):c.1290T>C (p.Ala430=)
|
rs776488578
|
0.00001
|
|
NM_000098.3(CPT2):c.135C>T (p.Tyr45=)
|
rs1645327989
|
0.00001
|
|
NM_000098.3(CPT2):c.1851T>C (p.His617=)
|
rs540322467
|
0.00001
|
|
NM_000098.3(CPT2):c.222T>C (p.Asp74=)
|
rs1360477206
|
0.00001
|
|
NM_000098.3(CPT2):c.378C>T (p.Ser126=)
|
rs780743357
|
0.00001
|
|
NM_000098.3(CPT2):c.468T>C (p.Thr156=)
|
rs138938770
|
0.00001
|
|
NM_000102.4(CYP17A1):c.1233G>A (p.Gln411=)
|
rs755050448
|
0.00001
|
|
NM_000102.4(CYP17A1):c.318C>T (p.Ser106=)
|
rs766679884
|
0.00001
|
|
NM_000102.4(CYP17A1):c.741T>C (p.Leu247=)
|
rs778591928
|
0.00001
|
|
NM_000108.5(DLD):c.1500T>C (p.Ala500=)
|
rs773097788
|
0.00001
|
|
NM_000117.3(EMD):c.400-6C>T
|
rs782396776
|
0.00001
|
|
NM_000124.4(ERCC6):c.804A>G (p.Ala268=)
|
rs777672678
|
0.00001
|
|
NM_000127.3(EXT1):c.1839G>A (p.Thr613=)
|
rs765677175
|
0.00001
|
|
NM_000130.5(F5):c.3952C>A (p.Gln1318Lys)
|
rs538359973
|
0.00001
|
|
NM_000135.4(FANCA):c.1007-17T>C
|
rs760059831
|
0.00001
|
|
NM_000135.4(FANCA):c.1360-12C>T
|
rs951725614
|
0.00001
|
|
NM_000135.4(FANCA):c.1471-8A>G
|
rs374717514
|
0.00001
|
|
NM_000135.4(FANCA):c.1701C>T (p.Thr567=)
|
rs745466726
|
0.00001
|
|
NM_000135.4(FANCA):c.2022G>A (p.Ser674=)
|
rs371997754
|
0.00001
|
|
NM_000135.4(FANCA):c.207T>C (p.Cys69=)
|
rs941660593
|
0.00001
|
|
NM_000135.4(FANCA):c.2247C>T (p.Phe749=)
|
rs772842754
|
0.00001
|
|
NM_000135.4(FANCA):c.2322G>A (p.Pro774=)
|
rs931091451
|
0.00001
|
|
NM_000135.4(FANCA):c.2481G>A (p.Arg827=)
|
rs749895479
|
0.00001
|
|
NM_000135.4(FANCA):c.2852+13A>T
|
rs189890126
|
0.00001
|
|
NM_000135.4(FANCA):c.2937T>C (p.Ala979=)
|
rs762638564
|
0.00001
|
|
NM_000135.4(FANCA):c.3192C>T (p.Ser1064=)
|
rs768502785
|
0.00001
|
|
NM_000135.4(FANCA):c.3246C>T (p.Leu1082=)
|
rs753864057
|
0.00001
|
|
NM_000135.4(FANCA):c.3381A>G (p.Thr1127=)
|
rs946344673
|
0.00001
|
|
NM_000135.4(FANCA):c.3538G>A (p.Val1180Met)
|
rs372706571
|
0.00001
|
|
NM_000135.4(FANCA):c.4251C>T (p.His1417=)
|
rs752333498
|
0.00001
|
|
NM_000135.4(FANCA):c.483C>T (p.Phe161=)
|
rs769389376
|
0.00001
|
|
NM_000135.4(FANCA):c.894-10G>A
|
rs751912856
|
0.00001
|
|
NM_000136.3(FANCC):c.1534-18C>T
|
rs1289718209
|
0.00001
|
|
NM_000136.3(FANCC):c.166-9C>G
|
rs372507085
|
0.00001
|
|
NM_000136.3(FANCC):c.687-15A>C
|
rs765327075
|
0.00001
|
|
NM_000138.5(FBN1):c.164+12G>A
|
rs571164659
|
0.00001
|
|
NM_000138.5(FBN1):c.4707C>G (p.Ala1569=)
|
rs397515813
|
0.00001
|
|
NM_000138.5(FBN1):c.4926T>C (p.Asp1642=)
|
rs140629
|
0.00001
|
|
NM_000138.5(FBN1):c.5283C>T (p.Thr1761=)
|
rs373887214
|
0.00001
|
|
NM_000138.5(FBN1):c.639C>T (p.Val213=)
|
rs543984363
|
0.00001
|
|
NM_000141.5(FGFR2):c.1155C>G (p.Val385=)
|
rs531426519
|
0.00001
|
|
NM_000141.5(FGFR2):c.1335G>T (p.Val445=)
|
rs1460282965
|
0.00001
|
|
NM_000151.4(G6PC1):c.108C>T (p.Ile36=)
|
rs148461633
|
0.00001
|
|
NM_000151.4(G6PC1):c.723C>T (p.Ala241=)
|
rs762967975
|
0.00001
|
|
NM_000151.4(G6PC1):c.822T>C (p.Ala274=)
|
rs761361643
|
0.00001
|
|
NM_000152.5(GAA):c.1551+12C>A
|
rs937342824
|
0.00001
|
|
NM_000152.5(GAA):c.1637-11G>A
|
rs557695694
|
0.00001
|
|
NM_000152.5(GAA):c.2041-13G>A
|
rs1450561353
|
0.00001
|
|
NM_000152.5(GAA):c.2619C>T (p.Tyr873=)
|
rs1555603132
|
0.00001
|
|
NM_000152.5(GAA):c.783C>T (p.Ala261=)
|
rs757356178
|
0.00001
|
|
NM_000168.6(GLI3):c.246G>A (p.Arg82=)
|
rs890167751
|
0.00001
|
|
NM_000168.6(GLI3):c.252A>G (p.Ser84=)
|
rs1051536881
|
0.00001
|
|
NM_000168.6(GLI3):c.3054G>A (p.Leu1018=)
|
rs1022587271
|
0.00001
|
|
NM_000168.6(GLI3):c.3261C>T (p.Asn1087=)
|
rs370714837
|
0.00001
|
|
NM_000168.6(GLI3):c.4008G>A (p.Gly1336=)
|
rs755403372
|
0.00001
|
|
NM_000168.6(GLI3):c.506C>T (p.Pro169Leu)
|
rs1419861206
|
0.00001
|
|
NM_000169.3(GLA):c.1095T>C (p.Tyr365=)
|
rs104894849
|
0.00001
|
|
NM_000169.3(GLA):c.33C>T (p.Gly11=)
|
rs781856890
|
0.00001
|
|
NM_000186.4(CFH):c.2236+10C>G
|
rs755790229
|
0.00001
|
|
NM_000186.4(CFH):c.2946A>G (p.Pro982=)
|
rs553471643
|
0.00001
|
|
NM_000186.4(CFH):c.849A>G (p.Lys283=)
|
rs771886590
|
0.00001
|
|
NM_000187.4(HGD):c.1335T>C (p.Asn445=)
|
rs187614203
|
0.00001
|
|
NM_000187.4(HGD):c.343-5C>T
|
rs779590565
|
0.00001
|
|
NM_000187.4(HGD):c.915T>C (p.Ser305=)
|
rs144158342
|
0.00001
|
|
NM_000195.5(HPS1):c.1245C>T (p.Pro415=)
|
rs879797527
|
0.00001
|
|
NM_000195.5(HPS1):c.1383C>T (p.Pro461=)
|
rs763241171
|
0.00001
|
|
NM_000195.5(HPS1):c.1398-9C>T
|
rs773047618
|
0.00001
|
|
NM_000195.5(HPS1):c.1532+13C>T
|
rs202086569
|
0.00001
|
|
NM_000195.5(HPS1):c.1533-16G>A
|
rs763995634
|
0.00001
|
|
NM_000195.5(HPS1):c.1545G>A (p.Thr515=)
|
rs141596696
|
0.00001
|
|
NM_000195.5(HPS1):c.1598+11G>A
|
rs538837544
|
0.00001
|
|
NM_000195.5(HPS1):c.399-5C>T
|
rs765780669
|
0.00001
|
|
NM_000195.5(HPS1):c.498C>T (p.Phe166=)
|
rs375340317
|
0.00001
|
|
NM_000195.5(HPS1):c.507+14G>A
|
rs367821874
|
0.00001
|
|
NM_000195.5(HPS1):c.570C>T (p.His190=)
|
rs1028581867
|
0.00001
|
|
NM_000195.5(HPS1):c.867+11T>C
|
rs745977366
|
0.00001
|
|
NM_000198.4(HSD3B2):c.228G>A (p.Ser76=)
|
rs767147330
|
0.00001
|
|
NM_000204.5(CFI):c.12T>A (p.Leu4=)
|
rs777304665
|
0.00001
|
|
NM_000204.5(CFI):c.1656A>G (p.Lys552=)
|
rs1308386684
|
0.00001
|
|
NM_000204.5(CFI):c.540A>G (p.Glu180=)
|
rs759777516
|
0.00001
|
|
NM_000209.4(PDX1):c.216C>T (p.Pro72=)
|
rs193922353
|
0.00001
|
|
NM_000213.5(ITGB4):c.5121C>T (p.Ser1707=)
|
rs201439404
|
0.00001
|
|
NM_000214.3(JAG1):c.1120+11T>C
|
rs768847875
|
0.00001
|
|
NM_000214.3(JAG1):c.2345-10T>G
|
rs752854231
|
0.00001
|
|
NM_000214.3(JAG1):c.2573-15G>A
|
rs753341715
|
0.00001
|
|
NM_000214.3(JAG1):c.2682+20G>A
|
rs764559590
|
0.00001
|
|
NM_000214.3(JAG1):c.3237G>C (p.Val1079=)
|
rs752052700
|
0.00001
|
|
NM_000214.3(JAG1):c.993C>T (p.Pro331=)
|
rs1294629128
|
0.00001
|
|
NM_000217.3(KCNA1):c.654A>T (p.Thr218=)
|
rs571062972
|
0.00001
|
|
NM_000218.3(KCNQ1):c.1377C>T (p.Asp459=)
|
rs200418488
|
0.00001
|
|
NM_000218.3(KCNQ1):c.1686-18C>G
|
rs1846715620
|
0.00001
|
|
NM_000218.3(KCNQ1):c.604+12C>T
|
rs370821907
|
0.00001
|
|
NM_000219.6(KCNE1):c.246C>T (p.Ile82=)
|
rs555086287
|
0.00001
|
|
NM_000222.3(KIT):c.531C>T (p.Arg177=)
|
rs756722358
|
0.00001
|
|
NM_000226.4(KRT9):c.1509A>G (p.Gly503=)
|
rs527491908
|
0.00001
|
|
NM_000238.4(KCNH2):c.156C>T (p.Cys52=)
|
rs754921704
|
0.00001
|
|
NM_000243.3(MEFV):c.1401G>A (p.Glu467=)
|
rs1398639205
|
0.00001
|
|
NM_000243.3(MEFV):c.1899G>A (p.Pro633=)
|
rs776315170
|
0.00001
|
|
NM_000243.3(MEFV):c.426G>C (p.Leu142=)
|
rs1465332482
|
0.00001
|
|
NM_000243.3(MEFV):c.48G>A (p.Leu16=)
|
rs777381107
|
0.00001
|
|
NM_000255.4(MMUT):c.1512A>G (p.Ala504=)
|
rs762792688
|
0.00001
|
|
NM_000255.4(MMUT):c.2046T>C (p.Val682=)
|
rs201456803
|
0.00001
|
|
NM_000255.4(MMUT):c.2082G>A (p.Arg694=)
|
rs752705830
|
0.00001
|
|
NM_000255.4(MMUT):c.423G>A (p.Ala141=)
|
rs547142339
|
0.00001
|
|
NM_000255.4(MMUT):c.954A>G (p.Glu318=)
|
rs1471303851
|
0.00001
|
|
NM_000256.3(MYBPC3):c.1935C>T (p.Pro645=)
|
rs727503193
|
0.00001
|
|
NM_000256.3(MYBPC3):c.681C>T (p.Thr227=)
|
rs756894628
|
0.00001
|
|
NM_000257.4(MYH7):c.1257+7C>A
|
rs759480696
|
0.00001
|
|
NM_000257.4(MYH7):c.3711G>A (p.Gln1237=)
|
rs1361182615
|
0.00001
|
|
NM_000257.4(MYH7):c.4353+20C>T
|
rs199912646
|
0.00001
|
|
NM_000257.4(MYH7):c.5661G>A (p.Glu1887=)
|
rs730880727
|
0.00001
|
|
NM_000258.3(MYL3):c.507G>A (p.Val169=)
|
rs1166390418
|
0.00001
|
|
NM_000261.2(MYOC):c.144G>T (p.Gln48His)
|
rs74315339
|
0.00001
|
|
NM_000271.5(NPC1):c.30C>T (p.Leu10=)
|
rs1432179735
|
0.00001
|
|
NM_000278.5(PAX2):c.1021+137C>T
|
rs1848496928
|
0.00001
|
|
NM_000278.5(PAX2):c.450G>A (p.Thr150=)
|
rs1386529275
|
0.00001
|
|
NM_000278.5(PAX2):c.477C>T (p.Thr159=)
|
rs201775091
|
0.00001
|
|
NM_000278.5(PAX2):c.735T>C (p.Phe245=)
|
rs746316295
|
0.00001
|
|
NM_000287.4(PEX6):c.2854C>T (p.Leu952=)
|
rs767430981
|
0.00001
|
|
NM_000297.4(PKD2):c.2460C>T (p.Ser820=)
|
rs572822238
|
0.00001
|
|
NM_000297.4(PKD2):c.783C>T (p.Pro261=)
|
rs766343471
|
0.00001
|
|
NM_000303.3(PMM2):c.179-4G>T
|
rs776262869
|
0.00001
|
|
NM_000303.3(PMM2):c.390C>T (p.Ser130=)
|
rs763944822
|
0.00001
|
|
NM_000303.3(PMM2):c.523+8A>G
|
rs374840518
|
0.00001
|
|
NM_000303.3(PMM2):c.690C>T (p.Ser230=)
|
rs769332588
|
0.00001
|
|
NM_000316.3(PTH1R):c.1117-8T>C
|
rs749389822
|
0.00001
|
|
NM_000316.3(PTH1R):c.615T>C (p.Ala205=)
|
rs200829369
|
0.00001
|
|
NM_000334.4(SCN4A):c.1560G>A (p.Pro520=)
|
rs373819078
|
0.00001
|
|
NM_000334.4(SCN4A):c.1755C>T (p.Thr585=)
|
rs1208231013
|
0.00001
|
|
NM_000334.4(SCN4A):c.1923T>C (p.Gly641=)
|
rs543151915
|
0.00001
|
|
NM_000334.4(SCN4A):c.228C>T (p.Ile76=)
|
rs1189122757
|
0.00001
|
|
NM_000334.4(SCN4A):c.2328C>T (p.Ala776=)
|
rs367936207
|
0.00001
|
|
NM_000334.4(SCN4A):c.273+7G>A
|
rs369039376
|
0.00001
|
|
NM_000334.4(SCN4A):c.2853+7C>T
|
rs760934874
|
0.00001
|
|
NM_000334.4(SCN4A):c.2854-19G>A
|
rs1280578508
|
0.00001
|
|
NM_000334.4(SCN4A):c.2958G>A (p.Glu986=)
|
rs372555830
|
0.00001
|
|
NM_000334.4(SCN4A):c.2990-4T>A
|
rs1346938988
|
0.00001
|
|
NM_000334.4(SCN4A):c.3720+7G>A
|
rs553870552
|
0.00001
|
|
NM_000334.4(SCN4A):c.4416G>A (p.Leu1472=)
|
rs758113478
|
0.00001
|
|
NM_000334.4(SCN4A):c.4887C>T (p.Pro1629=)
|
rs756370516
|
0.00001
|
|
NM_000334.4(SCN4A):c.5283C>T (p.Ser1761=)
|
rs766569872
|
0.00001
|
|
NM_000335.5(SCN5A):c.2694G>A (p.Glu898=)
|
rs2061655979
|
0.00001
|
|
NM_000335.5(SCN5A):c.786C>T (p.Ser262=)
|
rs753246399
|
0.00001
|
|
NM_000338.3(SLC12A1):c.2095G>A (p.Asp699Asn)
|
rs528775721
|
0.00001
|
|
NM_000341.4(SLC3A1):c.1119G>A (p.Thr373=)
|
rs772223467
|
0.00001
|
|
NM_000341.4(SLC3A1):c.1326C>T (p.Asn442=)
|
rs368554884
|
0.00001
|
|
NM_000343.4(SLC5A1):c.30C>T (p.Thr10=)
|
rs750528703
|
0.00001
|
|
NM_000343.4(SLC5A1):c.886-10T>C
|
rs201709042
|
0.00001
|
|
NM_000349.3(STAR):c.64+9T>C
|
rs761733155
|
0.00001
|
|
NM_000352.6(ABCC8):c.1068C>T (p.Tyr356=)
|
rs776713811
|
0.00001
|
|
NM_000352.6(ABCC8):c.148+13A>C
|
rs773823246
|
0.00001
|
|
NM_000352.6(ABCC8):c.1581G>A (p.Arg527=)
|
rs750360514
|
0.00001
|
|
NM_000352.6(ABCC8):c.2226T>C (p.Leu742=)
|
rs757507467
|
0.00001
|
|
NM_000352.6(ABCC8):c.2916G>A (p.Glu972=)
|
rs1954592292
|
0.00001
|
|
NM_000352.6(ABCC8):c.3142A>C (p.Arg1048=)
|
rs1387302006
|
0.00001
|
|
NM_000352.6(ABCC8):c.4236G>A (p.Leu1412=)
|
rs965734923
|
0.00001
|
|
NM_000352.6(ABCC8):c.660C>T (p.Pro220=)
|
rs773643362
|
0.00001
|
|
NM_000352.6(ABCC8):c.894C>A (p.Arg298=)
|
rs375094504
|
0.00001
|
|
NM_000361.3(THBD):c.1517C>A (p.Thr506Asn)
|
rs572623850
|
0.00001
|
|
NM_000368.5(TSC1):c.1257C>G (p.Pro419=)
|
rs369642207
|
0.00001
|
|
NM_000368.5(TSC1):c.1263+6_1263+8dup
|
rs751182565
|
0.00001
|
|
NM_000368.5(TSC1):c.1776G>A (p.Thr592=)
|
rs118203580
|
0.00001
|
|
NM_000368.5(TSC1):c.2208+7A>G
|
rs777732621
|
0.00001
|
|
NM_000368.5(TSC1):c.3414T>C (p.Pro1138=)
|
rs745475737
|
0.00001
|
|
NM_000368.5(TSC1):c.45C>T (p.Asp15=)
|
rs1457262106
|
0.00001
|
|
NM_000371.4(TTR):c.121C>A (p.Arg41=)
|
rs1004021945
|
0.00001
|
|
NM_000371.4(TTR):c.408T>C (p.Tyr136=)
|
rs1454790119
|
0.00001
|
|
NM_000371.4(TTR):c.40C>T (p.Leu14=)
|
rs1347695561
|
0.00001
|
|
NM_000377.3(WAS):c.867T>C (p.Leu289=)
|
rs781855402
|
0.00001
|
|
NM_000377.3(WAS):c.897G>A (p.Gly299=)
|
rs782793103
|
0.00001
|
|
NM_000379.4(XDH):c.1581G>A (p.Leu527=)
|
rs138859065
|
0.00001
|
|
NM_000379.4(XDH):c.225C>G (p.Ala75=)
|
rs368792036
|
0.00001
|
|
NM_000379.4(XDH):c.3519+13C>G
|
rs923415065
|
0.00001
|
|
NM_000379.4(XDH):c.565-17G>A
|
rs1207902172
|
0.00001
|
|
NM_000384.3(APOB):c.11760C>T (p.Thr3920=)
|
rs372222161
|
0.00001
|
|
NM_000384.3(APOB):c.11946G>A (p.Ala3982=)
|
rs776183349
|
0.00001
|
|
NM_000384.3(APOB):c.2967C>T (p.Ser989=)
|
rs773461882
|
0.00001
|
|
NM_000384.3(APOB):c.81C>G (p.Ala27=)
|
rs768732556
|
0.00001
|
|
NM_000388.4(CASR):c.1452C>T (p.Asp484=)
|
rs776775141
|
0.00001
|
|
NM_000388.4(CASR):c.1887T>C (p.Phe629=)
|
rs750220557
|
0.00001
|
|
NM_000388.4(CASR):c.2046G>A (p.Pro682=)
|
rs760450976
|
0.00001
|
|
NM_000388.4(CASR):c.2139C>T (p.Ser713=)
|
rs200384325
|
0.00001
|
|
NM_000388.4(CASR):c.2994G>A (p.Leu998=)
|
rs200260696
|
0.00001
|
|
NM_000388.4(CASR):c.3018G>A (p.Thr1006=)
|
rs748637478
|
0.00001
|
|
NM_000388.4(CASR):c.537A>G (p.Gln179=)
|
rs200129212
|
0.00001
|
|
NM_000388.4(CASR):c.738C>T (p.Tyr246=)
|
rs895337411
|
0.00001
|
|
NM_000388.4(CASR):c.813C>A (p.Ser271=)
|
rs759939185
|
0.00001
|
|
NM_000391.4(TPP1):c.435T>C (p.Pro145=)
|
rs188822344
|
0.00001
|
|
NM_000400.4(ERCC2):c.284A>G (p.Glu95Gly)
|
rs571718677
|
0.00001
|
|
NM_000431.4(MVK):c.1116C>T (p.Ile372=)
|
rs368066027
|
0.00001
|
|
NM_000431.4(MVK):c.1134C>T (p.Ser378=)
|
rs1885921145
|
0.00001
|
|
NM_000435.3(NOTCH3):c.4974C>T (p.Leu1658=)
|
rs749616364
|
0.00001
|
|
NM_000441.2(SLC26A4):c.768G>A (p.Thr256=)
|
rs552050976
|
0.00001
|
|
NM_000444.6(PHEX):c.1008C>T (p.Ser336=)
|
rs775973349
|
0.00001
|
|
NM_000444.6(PHEX):c.1966-10C>G
|
rs771050789
|
0.00001
|
|
NM_000478.6(ALPL):c.1047G>T (p.Leu349=)
|
rs771632536
|
0.00001
|
|
NM_000478.6(ALPL):c.1143C>T (p.His381=)
|
rs749419329
|
0.00001
|
|
NM_000478.6(ALPL):c.282C>T (p.Phe94=)
|
rs746608270
|
0.00001
|
|
NM_000478.6(ALPL):c.297+9C>A
|
rs773328385
|
0.00001
|
|
NM_000478.6(ALPL):c.582T>C (p.Pro194=)
|
rs112063292
|
0.00001
|
|
NM_000478.6(ALPL):c.660G>T (p.Gly220=)
|
rs1558552231
|
0.00001
|
|
NM_000485.3(APRT):c.385C>T (p.Leu129=)
|
rs376129456
|
0.00001
|
|
NM_000494.4(COL17A1):c.3419-10A>T
|
rs1448663798
|
0.00001
|
|
NM_000497.4(CYP11B1):c.1038C>T (p.Ala346=)
|
rs776234575
|
0.00001
|
|
NM_000497.4(CYP11B1):c.1389G>C (p.Leu463=)
|
rs775013399
|
0.00001
|
|
NM_000497.4(CYP11B1):c.270T>C (p.Cys90=)
|
rs778601992
|
0.00001
|
|
NM_000497.4(CYP11B1):c.396-9C>T
|
rs1324660372
|
0.00001
|
|
NM_000497.4(CYP11B1):c.596-8C>T
|
rs1201914437
|
0.00001
|
|
NM_000497.4(CYP11B1):c.627G>T (p.Leu209=)
|
rs1377203108
|
0.00001
|
|
NM_000497.4(CYP11B1):c.948G>C (p.Val316=)
|
rs778295450
|
0.00001
|
|
NM_000498.3(CYP11B2):c.1201-8G>A
|
rs767809371
|
0.00001
|
|
NM_000498.3(CYP11B2):c.237C>T (p.Phe79=)
|
rs1415124302
|
0.00001
|
|
NM_000498.3(CYP11B2):c.843C>T (p.Asn281=)
|
rs763373087
|
0.00001
|
|
NM_000498.3(CYP11B2):c.978G>A (p.Thr326=)
|
rs374863640
|
0.00001
|
|
NM_000503.6(EYA1):c.165G>A (p.Thr55=)
|
rs745425275
|
0.00001
|
|
NM_000503.6(EYA1):c.923G>A (p.Arg308Gln)
|
rs369822742
|
0.00001
|
|
NM_000516.7(GNAS):c.111C>T (p.Tyr37=)
|
rs749235261
|
0.00001
|
|
NM_000516.7(GNAS):c.136C>T (p.Leu46=)
|
rs775009418
|
0.00001
|
|
NM_000516.7(GNAS):c.258-7A>C
|
rs1183884518
|
0.00001
|
|
NM_000516.7(GNAS):c.660-15C>A
|
rs755766644
|
0.00001
|
|
NM_000516.7(GNAS):c.738C>T (p.Phe246=)
|
rs772094317
|
0.00001
|
|
NM_000525.4(KCNJ11):c.450C>T (p.Ile150=)
|
rs761588360
|
0.00001
|
|
NM_000527.5(LDLR):c.2022T>C (p.Asn674=)
|
rs1320831782
|
0.00001
|
|
NM_000527.5(LDLR):c.2373C>T (p.Ser791=)
|
rs751216643
|
0.00001
|
|
NM_000540.3(RYR1):c.12406C>A (p.Arg4136Ser)
|
rs193922849
|
0.00001
|
|
NM_000540.3(RYR1):c.15022-14A>G
|
rs1355487795
|
0.00001
|
|
NM_000540.3(RYR1):c.1518A>G (p.Ala506=)
|
rs1488570862
|
0.00001
|
|
NM_000540.3(RYR1):c.2931G>A (p.Thr977=)
|
rs771471004
|
0.00001
|
|
NM_000540.3(RYR1):c.46-5C>T
|
rs774388278
|
0.00001
|
|
NM_000545.8(HNF1A):c.153C>T (p.Gly51=)
|
rs761779651
|
0.00001
|
|
NM_000545.8(HNF1A):c.685C>A (p.Arg229=)
|
rs769086289
|
0.00001
|
|
NM_000548.5(TSC2):c.1361+20C>G
|
rs538626543
|
0.00001
|
|
NM_000548.5(TSC2):c.1443+19G>A
|
rs1219381067
|
0.00001
|
|
NM_000548.5(TSC2):c.1662G>A (p.Ser554=)
|
rs775617895
|
0.00001
|
|
NM_000548.5(TSC2):c.1717-14T>C
|
rs780658386
|
0.00001
|
|
NM_000548.5(TSC2):c.1717-16C>T
|
rs45517191
|
0.00001
|
|
NM_000548.5(TSC2):c.2035G>A (p.Val679Met)
|
rs746315218
|
0.00001
|
|
NM_000548.5(TSC2):c.2046G>A (p.Gly682=)
|
rs749536123
|
0.00001
|
|
NM_000548.5(TSC2):c.2058C>T (p.Tyr686=)
|
rs1186913814
|
0.00001
|
|
NM_000548.5(TSC2):c.225+12C>A
|
rs886038352
|
0.00001
|
|
NM_000548.5(TSC2):c.2466G>A (p.Ala822=)
|
rs141728350
|
0.00001
|
|
NM_000548.5(TSC2):c.2778C>T (p.Asp926=)
|
rs776069297
|
0.00001
|
|
NM_000548.5(TSC2):c.336+10A>G
|
rs587778005
|
0.00001
|
|
NM_000548.5(TSC2):c.3543G>A (p.Thr1181=)
|
rs139313964
|
0.00001
|
|
NM_000548.5(TSC2):c.3699C>T (p.Asn1233=)
|
rs773240506
|
0.00001
|
|
NM_000548.5(TSC2):c.3711G>A (p.Ala1237=)
|
rs754945653
|
0.00001
|
|
NM_000548.5(TSC2):c.3732C>T (p.His1244=)
|
rs1264194267
|
0.00001
|
|
NM_000548.5(TSC2):c.3780G>A (p.Thr1260=)
|
rs199742312
|
0.00001
|
|
NM_000548.5(TSC2):c.3814+10A>G
|
rs200309006
|
0.00001
|
|
NM_000548.5(TSC2):c.4458C>T (p.Ala1486=)
|
rs761248238
|
0.00001
|
|
NM_000548.5(TSC2):c.4494-12C>T
|
rs780056359
|
0.00001
|
|
NM_000548.5(TSC2):c.4677C>T (p.Leu1559=)
|
rs45517361
|
0.00001
|
|
NM_000548.5(TSC2):c.4740G>T (p.Arg1580=)
|
rs930171871
|
0.00001
|
|
NM_000548.5(TSC2):c.4850-12G>A
|
rs371810493
|
0.00001
|
|
NM_000548.5(TSC2):c.4850-18G>A
|
rs902020009
|
0.00001
|
|
NM_000548.5(TSC2):c.5031C>T (p.Asp1677=)
|
rs878854113
|
0.00001
|
|
NM_000548.5(TSC2):c.5037G>A (p.Glu1679=)
|
rs876658185
|
0.00001
|
|
NM_000548.5(TSC2):c.5400G>C (p.Val1800=)
|
rs777327091
|
0.00001
|
|
NM_000548.5(TSC2):c.648+17C>A
|
rs755431618
|
0.00001
|
|
NM_000548.5(TSC2):c.693G>A (p.Leu231=)
|
rs764417359
|
0.00001
|
|
NM_000548.5(TSC2):c.848+10G>A
|
rs1405925936
|
0.00001
|
|
NM_000551.4(VHL):c.426T>C (p.Val142=)
|
rs143594610
|
0.00001
|
|
NM_000719.7(CACNA1C):c.3246C>T (p.Asp1082=)
|
rs370662635
|
0.00001
|
|
NM_000719.7(CACNA1C):c.4857C>T (p.Tyr1619=)
|
rs758486779
|
0.00001
|
|
NM_000719.7(CACNA1C):c.5157C>G (p.Pro1719=)
|
rs534589273
|
0.00001
|
|
NM_000719.7(CACNA1C):c.6039C>T (p.Pro2013=)
|
rs780157730
|
0.00001
|
|
NM_000726.5(CACNB4):c.156G>A (p.Ala52=)
|
rs764332480
|
0.00001
|
|
NM_000744.7(CHRNA4):c.987C>T (p.Asn329=)
|
rs572366184
|
0.00001
|
|
NM_000748.3(CHRNB2):c.772C>T (p.Leu258=)
|
rs201514209
|
0.00001
|
|
NM_000751.3(CHRND):c.132C>G (p.Pro44=)
|
rs774771779
|
0.00001
|
|
NM_000782.5(CYP24A1):c.172C>T (p.Leu58=)
|
rs761949738
|
0.00001
|
|
NM_000782.5(CYP24A1):c.577C>A (p.Leu193Ile)
|
rs377696502
|
0.00001
|
|
NM_000785.4(CYP27B1):c.330C>T (p.Phe110=)
|
rs546648396
|
0.00001
|
|
NM_000890.5(KCNJ5):c.408C>T (p.Phe136=)
|
rs780052854
|
0.00001
|
|
NM_000890.5(KCNJ5):c.618A>G (p.Ala206=)
|
rs758377412
|
0.00001
|
|
NM_000890.5(KCNJ5):c.906G>T (p.Val302=)
|
rs533482437
|
0.00001
|
|
NM_000944.5(PPP3CA):c.1428A>G (p.Leu476=)
|
rs1196954163
|
0.00001
|
|
NM_000944.5(PPP3CA):c.519C>T (p.Arg173=)
|
rs752462646
|
0.00001
|
|
NM_000944.5(PPP3CA):c.783-7del
|
rs746185638
|
0.00001
|
|
NM_000944.5(PPP3CA):c.861-14T>A
|
rs780952005
|
0.00001
|
|
NM_000969.5(RPL5):c.309G>T (p.Leu103=)
|
rs760490644
|
0.00001
|
|
NM_000969.5(RPL5):c.4-4T>C
|
rs746944177
|
0.00001
|
|
NM_000969.5(RPL5):c.435T>C (p.Tyr145=)
|
rs188046229
|
0.00001
|
|
NM_000996.4(RPL35A):c.11+17T>C
|
rs780298603
|
0.00001
|
|
NM_001003841.3(SLC6A19):c.1485C>T (p.Leu495=)
|
rs572012976
|
0.00001
|
|
NM_001003841.3(SLC6A19):c.1521C>T (p.Tyr507=)
|
rs1319482740
|
0.00001
|
|
NM_001003841.3(SLC6A19):c.453C>T (p.Ser151=)
|
rs756989097
|
0.00001
|
|
NM_001003841.3(SLC6A19):c.657C>T (p.Thr219=)
|
rs764090881
|
0.00001
|
|
NM_001005242.3(PKP2):c.1539C>T (p.Asn513=)
|
rs535581825
|
0.00001
|
|
NM_001009944.3(PKD1):c.10050+10G>C
|
rs746704728
|
0.00001
|
|
NM_001009944.3(PKD1):c.4221G>A (p.Pro1407=)
|
rs776410570
|
0.00001
|
|
NM_001011.4(RPS7):c.378C>T (p.His126=)
|
rs764498089
|
0.00001
|
|
NM_001014.5(RPS10):c.312T>A (p.Pro104=)
|
rs775998609
|
0.00001
|
|
NM_001018005.2(TPM1):c.563+6C>T
|
rs397516378
|
0.00001
|
|
NM_001018005.2(TPM1):c.852-5C>T
|
rs766724527
|
0.00001
|
|
NM_001018005.2(TPM1):c.93G>C (p.Ala31=)
|
rs770661916
|
0.00001
|
|
NM_001018115.3(FANCD2):c.1414-4A>G
|
rs781613701
|
0.00001
|
|
NM_001018115.3(FANCD2):c.1698C>T (p.Thr566=)
|
rs769844392
|
0.00001
|
|
NM_001018115.3(FANCD2):c.3126C>T (p.His1042=)
|
rs552885346
|
0.00001
|
|
NM_001018115.3(FANCD2):c.3441T>C (p.Ala1147=)
|
rs533541893
|
0.00001
|
|
NM_001018115.3(FANCD2):c.3459A>G (p.Glu1153=)
|
rs570459552
|
0.00001
|
|
NM_001018115.3(FANCD2):c.3963+11A>G
|
rs945877549
|
0.00001
|
|
NM_001018115.3(FANCD2):c.784-9A>G
|
rs1388537203
|
0.00001
|
|
NM_001022.4(RPS19):c.356+12del
|
rs781789110
|
0.00001
|
|
NM_001023570.4(IQCB1):c.1278+9A>G
|
rs774535665
|
0.00001
|
|
NM_001029.5(RPS26):c.291C>T (p.Pro97=)
|
rs766621663
|
0.00001
|
|
NM_001029.5(RPS26):c.3+14C>T
|
rs763770729
|
0.00001
|
|
NM_001029.5(RPS26):c.3+20G>C
|
rs759864837
|
0.00001
|
|
NM_001029.5(RPS26):c.315T>A (p.Gly105=)
|
rs554297156
|
0.00001
|
|
NM_001035.3(RYR2):c.1320G>A (p.Ala440=)
|
rs887478410
|
0.00001
|
|
NM_001035.3(RYR2):c.13734G>A (p.Leu4578=)
|
rs1268914442
|
0.00001
|
|
NM_001035.3(RYR2):c.14151C>T (p.Asn4717=)
|
rs1479892874
|
0.00001
|
|
NM_001035.3(RYR2):c.5664G>C (p.Arg1888=)
|
rs758277755
|
0.00001
|
|
NM_001037.5(SCN1B):c.396C>T (p.Tyr132=)
|
rs181115510
|
0.00001
|
|
NM_001039.4(SCNN1G):c.1455T>C (p.Thr485=)
|
rs1270059843
|
0.00001
|
|
NM_001041.4(SI):c.186A>G (p.Lys62=)
|
rs368169891
|
0.00001
|
|
NM_001041.4(SI):c.2862G>A (p.Lys954=)
|
rs377552984
|
0.00001
|
|
NM_001041.4(SI):c.3663T>C (p.Tyr1221=)
|
rs767992819
|
0.00001
|
|
NM_001041.4(SI):c.4008A>G (p.Pro1336=)
|
rs747858019
|
0.00001
|
|
NM_001042413.2(GLIS3):c.1272G>A (p.Ser424=)
|
rs764287243
|
0.00001
|
|
NM_001042413.2(GLIS3):c.555A>C (p.Ala185=)
|
rs752433935
|
0.00001
|
|
NM_001042492.3(NF1):c.1062+7T>C
|
rs979521240
|
0.00001
|
|
NM_001042492.3(NF1):c.1185+7G>A
|
rs1322791959
|
0.00001
|
|
NM_001042492.3(NF1):c.1186-12C>G
|
rs1473811436
|
0.00001
|
|
NM_001042492.3(NF1):c.1356A>G (p.Gln452=)
|
rs1324833228
|
0.00001
|
|
NM_001042492.3(NF1):c.3198-4_3198-3dup
|
rs1555614809
|
0.00001
|
|
NM_001042492.3(NF1):c.3871-18A>G
|
rs748424913
|
0.00001
|
|
NM_001042492.3(NF1):c.4206C>T (p.Ile1402=)
|
rs864622406
|
0.00001
|
|
NM_001042492.3(NF1):c.4503C>T (p.Asp1501=)
|
rs577394398
|
0.00001
|
|
NM_001042492.3(NF1):c.4635C>T (p.Tyr1545=)
|
rs754023358
|
0.00001
|
|
NM_001042492.3(NF1):c.4860T>C (p.Gly1620=)
|
rs864622747
|
0.00001
|
|
NM_001042492.3(NF1):c.5269-19C>T
|
rs755620051
|
0.00001
|
|
NM_001042492.3(NF1):c.60+11C>T
|
rs565515877
|
0.00001
|
|
NM_001042492.3(NF1):c.6006+17A>G
|
rs748186225
|
0.00001
|
|
NM_001042492.3(NF1):c.6666G>A (p.Thr2222=)
|
rs780247942
|
0.00001
|
|
NM_001042492.3(NF1):c.6922-8T>C
|
rs191255643
|
0.00001
|
|
NM_001042492.3(NF1):c.7044C>T (p.Leu2348=)
|
rs1350755921
|
0.00001
|
|
NM_001042492.3(NF1):c.7092G>A (p.Arg2364=)
|
rs762081710
|
0.00001
|
|
NM_001042492.3(NF1):c.7332A>G (p.Thr2444=)
|
rs759005886
|
0.00001
|
|
NM_001042492.3(NF1):c.7533C>T (p.Val2511=)
|
rs760733171
|
0.00001
|
|
NM_001042492.3(NF1):c.7615+19T>C
|
rs773687866
|
0.00001
|
|
NM_001042492.3(NF1):c.7869+9T>C
|
rs940367528
|
0.00001
|
|
NM_001042492.3(NF1):c.7970+16T>G
|
rs967311672
|
0.00001
|
|
NM_001042492.3(NF1):c.8451C>T (p.Ser2817=)
|
rs547090599
|
0.00001
|
|
NM_001042492.3(NF1):c.889-6del
|
rs864622362
|
0.00001
|
|
NM_001042750.2(STAG2):c.1101T>C (p.Phe367=)
|
rs190643141
|
0.00001
|
|
NM_001079802.2(FKTN):c.1299G>A (p.Thr433=)
|
rs912930168
|
0.00001
|
|
NM_001079802.2(FKTN):c.1311G>A (p.Lys437=)
|
rs904253784
|
0.00001
|
|
NM_001079866.2(BCS1L):c.348A>G (p.Glu116=)
|
rs1285254792
|
0.00001
|
|
NM_001081.4(CUBN):c.1644T>C (p.Phe548=)
|
rs559998744
|
0.00001
|
|
NM_001081.4(CUBN):c.1704C>G (p.Leu568=)
|
rs752698463
|
0.00001
|
|
NM_001081.4(CUBN):c.2997A>G (p.Thr999=)
|
rs762336429
|
0.00001
|
|
NM_001081.4(CUBN):c.4959G>A (p.Ala1653=)
|
rs577984421
|
0.00001
|
|
NM_001081.4(CUBN):c.5469C>T (p.Ile1823=)
|
rs754694753
|
0.00001
|
|
NM_001081.4(CUBN):c.9297C>T (p.Tyr3099=)
|
rs754292924
|
0.00001
|
|
NM_001089.3(ABCA3):c.2148C>T (p.Ile716=)
|
rs778997367
|
0.00001
|
|
NM_001099922.3(ALG13):c.273A>G (p.Glu91=)
|
rs1057522348
|
0.00001
|
|
NM_001099922.3(ALG13):c.2913C>T (p.Ser971=)
|
rs1944100964
|
0.00001
|
|
NM_001099922.3(ALG13):c.456G>A (p.Leu152=)
|
rs762934062
|
0.00001
|
|
NM_001101.5(ACTB):c.270C>T (p.Phe90=)
|
rs1446932164
|
0.00001
|
|
NM_001101.5(ACTB):c.364-8C>T
|
rs751843940
|
0.00001
|
|
NM_001101.5(ACTB):c.474G>A (p.Gly158=)
|
rs141472083
|
0.00001
|
|
NM_001101.5(ACTB):c.63C>T (p.Phe21=)
|
rs370972197
|
0.00001
|
|
NM_001101.5(ACTB):c.642G>A (p.Glu214=)
|
rs769411154
|
0.00001
|
|
NM_001101.5(ACTB):c.882C>T (p.Tyr294=)
|
rs774758801
|
0.00001
|
|
NM_001102564.3(IFT43):c.195T>A (p.Gly65=)
|
rs766606545
|
0.00001
|
|
NM_001102564.3(IFT43):c.368+17A>T
|
rs759453395
|
0.00001
|
|
NM_001103.4(ACTN2):c.1305A>G (p.Thr435=)
|
rs12043223
|
0.00001
|
|
NM_001103.4(ACTN2):c.1857C>A (p.Pro619=)
|
rs1659474774
|
0.00001
|
|
NM_001103.4(ACTN2):c.2475C>T (p.Thr825=)
|
rs758805815
|
0.00001
|
|
NM_001105206.3(LAMA4):c.267C>T (p.Asn89=)
|
rs727503114
|
0.00001
|
|
NM_001105206.3(LAMA4):c.4977T>C (p.Val1659=)
|
rs199593652
|
0.00001
|
|
NM_001110556.2(FLNA):c.2316C>A (p.Val772=)
|
rs2067723075
|
0.00001
|
|
NM_001113378.2(FANCI):c.3059-17T>A
|
rs778641563
|
0.00001
|
|
NM_001113378.2(FANCI):c.3592-16C>T
|
rs754610218
|
0.00001
|
|
NM_001113378.2(FANCI):c.3592-9G>A
|
rs200021557
|
0.00001
|
|
NM_001113378.2(FANCI):c.3652-9T>C
|
rs971308997
|
0.00001
|
|
NM_001122630.2(CDKN1C):c.291C>T (p.Pro97=)
|
rs534471786
|
0.00001
|
|
NM_001122630.2(CDKN1C):c.354C>T (p.Leu118=)
|
rs1426804435
|
0.00001
|
|
NM_001122630.2(CDKN1C):c.564C>T (p.Ala188=)
|
rs1554937891
|
0.00001
|
|
NM_001122955.4(BSCL2):c.1269G>A (p.Thr423=)
|
rs748736063
|
0.00001
|
|
NM_001122955.4(BSCL2):c.933C>T (p.Ser311=)
|
rs748195771
|
0.00001
|
|
NM_001126108.2(SLC12A3):c.1458C>T (p.Asp486=)
|
rs1215392195
|
0.00001
|
|
NM_001126108.2(SLC12A3):c.1485C>T (p.Phe495=)
|
rs1297766065
|
0.00001
|
|
NM_001126108.2(SLC12A3):c.2037+10C>T
|
rs774757777
|
0.00001
|
|
NM_001126108.2(SLC12A3):c.2038-6C>T
|
rs1287454816
|
0.00001
|
|
NM_001126108.2(SLC12A3):c.2262G>A (p.Val754=)
|
rs745611719
|
0.00001
|
|
NM_001126108.2(SLC12A3):c.2331G>A (p.Arg777=)
|
rs1269639917
|
0.00001
|
|
NM_001126108.2(SLC12A3):c.333C>T (p.His111=)
|
rs867887117
|
0.00001
|
|
NM_001126108.2(SLC12A3):c.741+9G>A
|
rs761526794
|
0.00001
|
|
NM_001127898.4(CLCN5):c.796A>G (p.Ile266Val)
|
rs200953235
|
0.00001
|
|
NM_001128178.3(NPHP1):c.771+78G>A
|
rs762350912
|
0.00001
|
|
NM_001134363.3(RBM20):c.1962C>T (p.Ser654=)
|
rs1060504913
|
0.00001
|
|
NM_001134831.2(AHI1):c.1683G>A (p.Val561=)
|
rs757056964
|
0.00001
|
|
NM_001134831.2(AHI1):c.1719C>T (p.Asp573=)
|
rs886038629
|
0.00001
|
|
NM_001134831.2(AHI1):c.190-17A>G
|
rs762843841
|
0.00001
|
|
NM_001134831.2(AHI1):c.2718A>G (p.Ala906=)
|
rs765434425
|
0.00001
|
|
NM_001142864.4(PIEZO1):c.4992G>A (p.Leu1664=)
|
rs186462241
|
0.00001
|
|
NM_001144967.3(NEDD4L):c.1446A>G (p.Pro482=)
|
rs773408353
|
0.00001
|
|
NM_001144967.3(NEDD4L):c.2676C>T (p.Ala892=)
|
rs764595394
|
0.00001
|
|
NM_001144967.3(NEDD4L):c.348+9A>G
|
rs543228992
|
0.00001
|
|
NM_001148.6(ANK2):c.285+12G>A
|
rs752639381
|
0.00001
|
|
NM_001148.6(ANK2):c.5508C>T (p.Ser1836=)
|
rs766217545
|
0.00001
|
|
NM_001148.6(ANK2):c.8768A>G (p.Gln2923Arg)
|
rs551454026
|
0.00001
|
|
NM_001148.6(ANK2):c.9555C>T (p.Asp3185=)
|
rs371509239
|
0.00001
|
|
NM_001148.6(ANK2):c.9598C>T (p.Leu3200Phe)
|
rs750774547
|
0.00001
|
|
NM_001159699.2(FHL1):c.189C>T (p.Ile63=)
|
rs1424503926
|
0.00001
|
|
NM_001163809.2(WDR81):c.1604G>A (p.Arg535His)
|
rs563732828
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.1215G>A (p.Ala405=)
|
rs1043721709
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.888C>T (p.Tyr296=)
|
rs782326705
|
0.00001
|
|
NM_001170535.3(ATAD3A):c.1602C>T (p.Ala534=)
|
rs780963309
|
0.00001
|
|
NM_001170535.3(ATAD3A):c.672G>A (p.Glu224=)
|
rs776672631
|
0.00001
|
|
NM_001171.6(ABCC6):c.1872C>T (p.Ala624=)
|
rs747341864
|
0.00001
|
|
NM_001171.6(ABCC6):c.2079G>A (p.Val693=)
|
rs189252048
|
0.00001
|
|
NM_001171.6(ABCC6):c.2085C>T (p.Tyr695=)
|
rs199913903
|
0.00001
|
|
NM_001171.6(ABCC6):c.2521C>T (p.Leu841=)
|
rs60990156
|
0.00001
|
|
NM_001171.6(ABCC6):c.3411C>G (p.Val1137=)
|
rs772396564
|
0.00001
|
|
NM_001171.6(ABCC6):c.3477G>A (p.Arg1159=)
|
rs746045818
|
0.00001
|
|
NM_001171.6(ABCC6):c.3507-14G>A
|
rs1006071217
|
0.00001
|
|
NM_001171.6(ABCC6):c.3735+10G>A
|
rs372710375
|
0.00001
|
|
NM_001171.6(ABCC6):c.3837G>A (p.Pro1279=)
|
rs61294695
|
0.00001
|
|
NM_001171.6(ABCC6):c.4476G>C (p.Leu1492=)
|
rs745761393
|
0.00001
|
|
NM_001174147.2(LMX1B):c.1052-19C>T
|
rs770215617
|
0.00001
|
|
NM_001174147.2(LMX1B):c.432C>T (p.Cys144=)
|
rs375657880
|
0.00001
|
|
NM_001174147.2(LMX1B):c.535G>A (p.Val179Met)
|
rs181422024
|
0.00001
|
|
NM_001177316.2(SLC34A3):c.1629T>C (p.Pro543=)
|
rs545784124
|
0.00001
|
|
NM_001177316.2(SLC34A3):c.312G>A (p.Val104=)
|
rs1040164729
|
0.00001
|
|
NM_001177316.2(SLC34A3):c.561-9C>T
|
rs1469811548
|
0.00001
|
|
NM_001195305.3(BBIP1):c.150G>A (p.Leu50=)
|
rs767511014
|
0.00001
|
|
NM_001197104.2(KMT2A):c.135G>A (p.Pro45=)
|
rs9332746
|
0.00001
|
|
NM_001204.7(BMPR2):c.1863G>A (p.Thr621=)
|
rs753528525
|
0.00001
|
|
NM_001205293.3(CACNA1E):c.2298G>A (p.Leu766=)
|
rs1257129141
|
0.00001
|
|
NM_001243133.2(NLRP3):c.2058C>T (p.Pro686=)
|
rs765198709
|
0.00001
|
|
NM_001243133.2(NLRP3):c.2492+13C>T
|
rs199746830
|
0.00001
|
|
NM_001243133.2(NLRP3):c.369G>A (p.Ser123=)
|
rs750104265
|
0.00001
|
|
NM_001256715.2(DNAAF3):c.989C>T (p.Thr330Ile)
|
rs545243133
|
0.00001
|
|
NM_001261826.3(AP3D1):c.2832G>A (p.Glu944=)
|
rs767889885
|
0.00001
|
|
NM_001267550.2(TTN):c.11085C>T (p.His3695=)
|
rs774236128
|
0.00001
|
|
NM_001267550.2(TTN):c.15981C>T (p.Asp5327=)
|
rs1278975928
|
0.00001
|
|
NM_001267550.2(TTN):c.17733T>C (p.Asn5911=)
|
rs912253842
|
0.00001
|
|
NM_001267550.2(TTN):c.18150A>G (p.Lys6050=)
|
rs991259759
|
0.00001
|
|
NM_001267550.2(TTN):c.19426+7A>G
|
rs756760290
|
0.00001
|
|
NM_001267550.2(TTN):c.24207A>G (p.Ser8069=)
|
rs370099448
|
0.00001
|
|
NM_001267550.2(TTN):c.24453C>T (p.Leu8151=)
|
rs772386098
|
0.00001
|
|
NM_001267550.2(TTN):c.30414T>C (p.Asn10138=)
|
rs878990074
|
0.00001
|
|
NM_001267550.2(TTN):c.30927G>A (p.Glu10309=)
|
rs1015963344
|
0.00001
|
|
NM_001267550.2(TTN):c.34787-16C>T
|
rs191530616
|
0.00001
|
|
NM_001267550.2(TTN):c.3876A>G (p.Gly1292=)
|
rs755784209
|
0.00001
|
|
NM_001267550.2(TTN):c.40408+20A>G
|
rs750616546
|
0.00001
|
|
NM_001267550.2(TTN):c.41810C>T (p.Ala13937Val)
|
rs545806408
|
0.00001
|
|
NM_001267550.2(TTN):c.4314C>T (p.Ser1438=)
|
rs764817754
|
0.00001
|
|
NM_001267550.2(TTN):c.49287C>T (p.Asn16429=)
|
rs763809932
|
0.00001
|
|
NM_001267550.2(TTN):c.50076C>T (p.Asp16692=)
|
rs397517598
|
0.00001
|
|
NM_001267550.2(TTN):c.60027C>T (p.Ile20009=)
|
rs368279024
|
0.00001
|
|
NM_001267550.2(TTN):c.60195C>A (p.Ile20065=)
|
rs990501984
|
0.00001
|
|
NM_001267550.2(TTN):c.65565C>T (p.Leu21855=)
|
rs367880653
|
0.00001
|
|
NM_001267550.2(TTN):c.65799C>T (p.Asp21933=)
|
rs370123011
|
0.00001
|
|
NM_001267550.2(TTN):c.73149G>A (p.Ser24383=)
|
rs564938876
|
0.00001
|
|
NM_001267550.2(TTN):c.81168T>C (p.Ser27056=)
|
rs767101518
|
0.00001
|
|
NM_001267550.2(TTN):c.82641A>G (p.Glu27547=)
|
rs372153745
|
0.00001
|
|
NM_001267550.2(TTN):c.83766T>C (p.Thr27922=)
|
rs757873540
|
0.00001
|
|
NM_001267550.2(TTN):c.85768C>A (p.Arg28590=)
|
rs748689777
|
0.00001
|
|
NM_001267550.2(TTN):c.93868C>T (p.Leu31290=)
|
rs557737090
|
0.00001
|
|
NM_001267550.2(TTN):c.94620C>A (p.Gly31540=)
|
rs746325775
|
0.00001
|
|
NM_001267550.2(TTN):c.94740T>C (p.Tyr31580=)
|
rs1359929309
|
0.00001
|
|
NM_001267550.2(TTN):c.9486G>A (p.Gln3162=)
|
rs768927616
|
0.00001
|
|
NM_001267550.2(TTN):c.97194C>T (p.Asp32398=)
|
rs768594716
|
0.00001
|
|
NM_001267550.2(TTN):c.97419T>C (p.Arg32473=)
|
rs1317447790
|
0.00001
|
|
NM_001267550.2(TTN):c.98238T>C (p.Ser32746=)
|
rs879159807
|
0.00001
|
|
NM_001271.4(CHD2):c.5058C>T (p.Ser1686=)
|
rs199851404
|
0.00001
|
|
NM_001276345.2(TNNT2):c.450C>T (p.Ile150=)
|
rs200604266
|
0.00001
|
|
NM_001277115.2(DNAH11):c.7135-18C>T
|
rs886038472
|
0.00001
|
|
NM_001278293.3(ARL6):c.432T>A (p.Ser144=)
|
rs1324293417
|
0.00001
|
|
NM_001282225.2(ADA2):c.753+7C>T
|
rs762663812
|
0.00001
|
|
NM_001282225.2(ADA2):c.754-8C>T
|
rs1427052554
|
0.00001
|
|
NM_001283009.2(RTEL1):c.1266+11C>T
|
rs2090575166
|
0.00001
|
|
NM_001289104.2(PRKCSH):c.1005C>T (p.Ser335=)
|
rs145740877
|
0.00001
|
|
NM_001289104.2(PRKCSH):c.324C>T (p.Ser108=)
|
rs368596083
|
0.00001
|
|
NM_001289104.2(PRKCSH):c.37T>C (p.Trp13Arg)
|
rs570440031
|
0.00001
|
|
NM_001290043.2(TAP2):c.139G>C (p.Gly47Arg)
|
rs370260585
|
0.00001
|
|
NM_001291303.3(FAT4):c.842C>T (p.Thr281Ile)
|
rs564305264
|
0.00001
|
|
NM_001303.4(COX10):c.561C>T (p.Pro187=)
|
rs371712806
|
0.00001
|
|
NM_001330078.2(NRXN1):c.2625T>C (p.Asn875=)
|
rs764347791
|
0.00001
|
|
NM_001330588.2(TPP2):c.1016+17A>G
|
rs536710684
|
0.00001
|
|
NM_001358921.2(COQ2):c.762+14C>A
|
rs587780909
|
0.00001
|
|
NM_001360.3(DHCR7):c.342C>A (p.Leu114=)
|
rs773047702
|
0.00001
|
|
NM_001360.3(DHCR7):c.513C>T (p.Thr171=)
|
rs566499249
|
0.00001
|
|
NM_001360.3(DHCR7):c.964-10C>T
|
rs753345689
|
0.00001
|
|
NM_001360.3(DHCR7):c.99-7C>T
|
rs1177383343
|
0.00001
|
|
NM_001365536.1(SCN9A):c.5245C>T (p.Leu1749=)
|
rs200636760
|
0.00001
|
|
NM_001369.3(DNAH5):c.10878G>A (p.Thr3626=)
|
rs188428209
|
0.00001
|
|
NM_001369.3(DNAH5):c.6498A>G (p.Gly2166=)
|
rs764201218
|
0.00001
|
|
NM_001374828.1(ARID1B):c.3588C>T (p.Val1196=)
|
rs371828409
|
0.00001
|
|
NM_001376.5(DYNC1H1):c.12180C>T (p.Ala4060=)
|
rs754694929
|
0.00001
|
|
NM_001378454.1(ALMS1):c.10440A>G (p.Ala3480=)
|
rs375046790
|
0.00001
|
|
NM_001378454.1(ALMS1):c.11310T>C (p.Asp3770=)
|
rs1438099503
|
0.00001
|
|
NM_001378454.1(ALMS1):c.12216A>G (p.Leu4072=)
|
rs769083768
|
0.00001
|
|
NM_001378454.1(ALMS1):c.1386G>A (p.Arg462=)
|
rs749794703
|
0.00001
|
|
NM_001378454.1(ALMS1):c.1432+7A>G
|
rs1468328132
|
0.00001
|
|
NM_001378454.1(ALMS1):c.1521A>C (p.Gly507=)
|
rs760374410
|
0.00001
|
|
NM_001378454.1(ALMS1):c.2598G>A (p.Lys866=)
|
rs760421159
|
0.00001
|
|
NM_001378454.1(ALMS1):c.3266C>G (p.Thr1089Arg)
|
rs556855697
|
0.00001
|
|
NM_001378454.1(ALMS1):c.333A>G (p.Pro111=)
|
rs1190737675
|
0.00001
|
|
NM_001378454.1(ALMS1):c.3450G>A (p.Lys1150=)
|
rs373926995
|
0.00001
|
|
NM_001378454.1(ALMS1):c.4230G>A (p.Ala1410=)
|
rs546247768
|
0.00001
|
|
NM_001378454.1(ALMS1):c.4995C>T (p.Tyr1665=)
|
rs762003836
|
0.00001
|
|
NM_001378454.1(ALMS1):c.5079T>C (p.Pro1693=)
|
rs751254168
|
0.00001
|
|
NM_001378454.1(ALMS1):c.5245A>G (p.Thr1749Ala)
|
rs546111188
|
0.00001
|
|
NM_001378454.1(ALMS1):c.6219G>A (p.Lys2073=)
|
rs1383333428
|
0.00001
|
|
NM_001378454.1(ALMS1):c.646+8C>G
|
rs760012033
|
0.00001
|
|
NM_001378454.1(ALMS1):c.837G>A (p.Gln279=)
|
rs766179893
|
0.00001
|
|
NM_001378454.1(ALMS1):c.8655A>G (p.Arg2885=)
|
rs377249623
|
0.00001
|
|
NM_001378454.1(ALMS1):c.8727A>G (p.Gln2909=)
|
rs1258151977
|
0.00001
|
|
NM_001378454.1(ALMS1):c.975G>A (p.Ser325=)
|
rs370267673
|
0.00001
|
|
NM_001378454.1(ALMS1):c.9907+17A>C
|
rs772675597
|
0.00001
|
|
NM_001384732.1(CPLANE1):c.1121+7C>T
|
rs776591358
|
0.00001
|
|
NM_001384732.1(CPLANE1):c.2208T>C (p.Ser736=)
|
rs1561663335
|
0.00001
|
|
NM_001384732.1(CPLANE1):c.2501-7T>C
|
rs1315683149
|
0.00001
|
|
NM_001384732.1(CPLANE1):c.4230T>C (p.Ser1410=)
|
rs571145214
|
0.00001
|
|
NM_001384732.1(CPLANE1):c.6463-17T>C
|
rs753835579
|
0.00001
|
|
NM_001384732.1(CPLANE1):c.7401-14A>G
|
rs1052354484
|
0.00001
|
|
NM_001384732.1(CPLANE1):c.7428G>T (p.Leu2476=)
|
rs145750519
|
0.00001
|
|
NM_001384732.1(CPLANE1):c.7641A>G (p.Val2547=)
|
rs771793682
|
0.00001
|
|
NM_001384732.1(CPLANE1):c.8461+19G>A
|
rs772961080
|
0.00001
|
|
NM_001458.5(FLNC):c.2307G>A (p.Val769=)
|
rs906089015
|
0.00001
|
|
NM_001458.5(FLNC):c.5043G>A (p.Thr1681=)
|
rs200405579
|
0.00001
|
|
NM_001458.5(FLNC):c.5842+12G>A
|
rs745604311
|
0.00001
|
|
NM_001458.5(FLNC):c.7449C>T (p.Asn2483=)
|
rs761006044
|
0.00001
|
|
NM_001482.3(GATM):c.1257G>A (p.Gln419=)
|
rs774881489
|
0.00001
|
|
NM_001482.3(GATM):c.138C>T (p.Ser46=)
|
rs1012951622
|
0.00001
|
|
NM_001482.3(GATM):c.294C>T (p.Asn98=)
|
rs1271594468
|
0.00001
|
|
NM_001482.3(GATM):c.48G>T (p.Ala16=)
|
rs587780951
|
0.00001
|
|
NM_001482.3(GATM):c.540C>T (p.Ile180=)
|
rs758473036
|
0.00001
|
|
NM_001482.3(GATM):c.9G>A (p.Arg3=)
|
rs1471775361
|
0.00001
|
|
NM_001614.5(ACTG1):c.294G>A (p.Pro98=)
|
rs1157976912
|
0.00001
|
|
NM_001692.4(ATP6V1B1):c.1221G>A (p.Lys407=)
|
rs782782168
|
0.00001
|
|
NM_001692.4(ATP6V1B1):c.393G>A (p.Lys131=)
|
rs1332086842
|
0.00001
|
|
NM_001692.4(ATP6V1B1):c.462G>A (p.Pro154=)
|
rs1471681639
|
0.00001
|
|
NM_001711.6(BGN):c.954C>T (p.Asn318=)
|
rs1357283426
|
0.00001
|
|
NM_001715.3(BLK):c.1371C>T (p.Pro457=)
|
rs1356289485
|
0.00001
|
|
NM_001735.3(C5):c.1001-6C>T
|
rs577620735
|
0.00001
|
|
NM_001735.3(C5):c.1866+12C>A
|
rs113503759
|
0.00001
|
|
NM_001735.3(C5):c.2037G>A (p.Leu679=)
|
rs2047296479
|
0.00001
|
|
NM_001735.3(C5):c.2059+10G>A
|
rs371850097
|
0.00001
|
|
NM_001735.3(C5):c.2942-16A>T
|
rs1026823552
|
0.00001
|
|
NM_001735.3(C5):c.792C>T (p.Asp264=)
|
rs751759129
|
0.00001
|
|
NM_001791.4(CDC42):c.510C>T (p.Asp170=)
|
rs200782611
|
0.00001
|
|
NM_001791.4(CDC42):c.529C>T (p.Leu177=)
|
rs759623419
|
0.00001
|
|
NM_001844.5(COL2A1):c.4254C>T (p.Asp1418=)
|
rs748658390
|
0.00001
|
|
NM_001845.6(COL4A1):c.1461A>G (p.Glu487=)
|
rs1878700909
|
0.00001
|
|
NM_001845.6(COL4A1):c.234+7A>G
|
rs1339538900
|
0.00001
|
|
NM_001845.6(COL4A1):c.324+16G>A
|
rs770236988
|
0.00001
|
|
NM_001845.6(COL4A1):c.3492G>A (p.Glu1164=)
|
rs182418518
|
0.00001
|
|
NM_001845.6(COL4A1):c.3713G>A (p.Arg1238His)
|
rs146598127
|
0.00001
|
|
NM_001845.6(COL4A1):c.4249+9C>T
|
rs186028417
|
0.00001
|
|
NM_001845.6(COL4A1):c.4462+8G>A
|
rs752734207
|
0.00001
|
|
NM_001845.6(COL4A1):c.4560G>A (p.Ser1520=)
|
rs773639086
|
0.00001
|
|
NM_001845.6(COL4A1):c.4728G>A (p.Ser1576=)
|
rs552846696
|
0.00001
|
|
NM_001845.6(COL4A1):c.4971G>A (p.Thr1657=)
|
rs139917163
|
0.00001
|
|
NM_001845.6(COL4A1):c.808-13T>G
|
rs529629733
|
0.00001
|
|
NM_001854.4(COL11A1):c.3792G>A (p.Gly1264=)
|
rs372122122
|
0.00001
|
|
NM_001875.5(CPS1):c.1708-5G>A
|
rs571670790
|
0.00001
|
|
NM_001903.5(CTNNA1):c.2442C>T (p.Ser814=)
|
rs143248909
|
0.00001
|
|
NM_001927.4(DES):c.1272T>C (p.Ser424=)
|
rs370720293
|
0.00001
|
|
NM_001943.5(DSG2):c.1652-8C>T
|
rs770497608
|
0.00001
|
|
NM_001943.5(DSG2):c.2742T>C (p.Ser914=)
|
rs529198523
|
0.00001
|
|
NM_001943.5(DSG2):c.2750C>T (p.Ala917Val)
|
rs775670183
|
0.00001
|
|
NM_002067.5(GNA11):c.477-12G>A
|
rs766787225
|
0.00001
|
|
NM_002067.5(GNA11):c.606-6T>C
|
rs371052478
|
0.00001
|
|
NM_002067.5(GNA11):c.987G>A (p.Thr329=)
|
rs375856122
|
0.00001
|
|
NM_002087.4(GRN):c.709-8C>T
|
rs373210564
|
0.00001
|
|
NM_002204.4(ITGA3):c.2400+7G>A
|
rs371199306
|
0.00001
|
|
NM_002230.4(JUP):c.1128G>A (p.Leu376=)
|
rs781926392
|
0.00001
|
|
NM_002230.4(JUP):c.2193C>T (p.Asp731=)
|
rs199683273
|
0.00001
|
|
NM_002230.4(JUP):c.525G>A (p.Ser175=)
|
rs782794110
|
0.00001
|
|
NM_002230.4(JUP):c.87C>T (p.Gly29=)
|
rs199530395
|
0.00001
|
|
NM_002246.3(KCNK3):c.759C>T (p.Asp253=)
|
rs758405997
|
0.00001
|
|
NM_002292.4(LAMB2):c.1074C>T (p.Phe358=)
|
rs765736533
|
0.00001
|
|
NM_002292.4(LAMB2):c.1329T>C (p.His443=)
|
rs1131787
|
0.00001
|
|
NM_002292.4(LAMB2):c.1392T>A (p.Arg464=)
|
rs922993666
|
0.00001
|
|
NM_002292.4(LAMB2):c.1519-5T>C
|
rs1242908578
|
0.00001
|
|
NM_002292.4(LAMB2):c.252C>T (p.Asp84=)
|
rs750432118
|
0.00001
|
|
NM_002292.4(LAMB2):c.3798-17C>G
|
rs777266280
|
0.00001
|
|
NM_002292.4(LAMB2):c.4848G>A (p.Arg1616=)
|
rs567190427
|
0.00001
|
|
NM_002292.4(LAMB2):c.951T>A (p.Arg317=)
|
rs755050242
|
0.00001
|
|
NM_002334.4(LRP4):c.1049-6G>C
|
rs775792196
|
0.00001
|
|
NM_002334.4(LRP4):c.1310-7T>A
|
rs1555174059
|
0.00001
|
|
NM_002334.4(LRP4):c.1365A>G (p.Pro455=)
|
rs143481229
|
0.00001
|
|
NM_002334.4(LRP4):c.1815C>T (p.Ile605=)
|
rs776484339
|
0.00001
|
|
NM_002334.4(LRP4):c.2424+13G>A
|
rs374365893
|
0.00001
|
|
NM_002334.4(LRP4):c.3195C>T (p.Asp1065=)
|
rs745991521
|
0.00001
|
|
NM_002334.4(LRP4):c.339C>T (p.Asp113=)
|
rs368971854
|
0.00001
|
|
NM_002335.4(LRP5):c.1016-10G>A
|
rs1271777311
|
0.00001
|
|
NM_002335.4(LRP5):c.1707G>A (p.Glu569=)
|
rs199707305
|
0.00001
|
|
NM_002335.4(LRP5):c.2265C>T (p.Leu755=)
|
rs1022762292
|
0.00001
|
|
NM_002335.4(LRP5):c.2625C>T (p.Ser875=)
|
rs999634205
|
0.00001
|
|
NM_002335.4(LRP5):c.2688C>T (p.His896=)
|
rs1395883769
|
0.00001
|
|
NM_002335.4(LRP5):c.2828-15C>T
|
rs951283192
|
0.00001
|
|
NM_002335.4(LRP5):c.3951C>T (p.Cys1317=)
|
rs141306017
|
0.00001
|
|
NM_002335.4(LRP5):c.4000+15G>A
|
rs563578294
|
0.00001
|
|
NM_002335.4(LRP5):c.4143G>A (p.Pro1381=)
|
rs759659671
|
0.00001
|
|
NM_002335.4(LRP5):c.4167C>T (p.Pro1389=)
|
rs780535389
|
0.00001
|
|
NM_002335.4(LRP5):c.4269G>A (p.Pro1423=)
|
rs139701701
|
0.00001
|
|
NM_002471.4(MYH6):c.2664C>T (p.Asp888=)
|
rs755699724
|
0.00001
|
|
NM_002471.4(MYH6):c.3189G>C (p.Leu1063=)
|
rs745729273
|
0.00001
|
|
NM_002471.4(MYH6):c.3393G>A (p.Arg1131=)
|
rs529107714
|
0.00001
|
|
NM_002471.4(MYH6):c.4504C>A (p.Arg1502=)
|
rs773631723
|
0.00001
|
|
NM_002473.6(MYH9):c.1518C>T (p.Leu506=)
|
rs745614690
|
0.00001
|
|
NM_002473.6(MYH9):c.2230-9C>T
|
rs1221817075
|
0.00001
|
|
NM_002473.6(MYH9):c.4128T>C (p.Ser1376=)
|
rs199506931
|
0.00001
|
|
NM_002473.6(MYH9):c.5235G>A (p.Thr1745=)
|
rs727504684
|
0.00001
|
|
NM_002473.6(MYH9):c.720C>T (p.Arg240=)
|
rs556214390
|
0.00001
|
|
NM_002473.6(MYH9):c.868+14C>T
|
rs769515479
|
0.00001
|
|
NM_002473.6(MYH9):c.888G>A (p.Pro296=)
|
rs559813309
|
0.00001
|
|
NM_002474.3(MYH11):c.5829A>G (p.Gly1943=)
|
rs199752132
|
0.00001
|
|
NM_002661.5(PLCG2):c.1176C>T (p.His392=)
|
rs773286721
|
0.00001
|
|
NM_002661.5(PLCG2):c.1212C>T (p.Ser404=)
|
rs1405057614
|
0.00001
|
|
NM_002661.5(PLCG2):c.1236G>A (p.Glu412=)
|
rs372240617
|
0.00001
|
|
NM_002661.5(PLCG2):c.1362+8C>A
|
rs372538067
|
0.00001
|
|
NM_002661.5(PLCG2):c.1934+8T>G
|
rs780081424
|
0.00001
|
|
NM_002661.5(PLCG2):c.2032G>A (p.Asp678Asn)
|
rs541071022
|
0.00001
|
|
NM_002661.5(PLCG2):c.2067G>A (p.Lys689=)
|
rs1369861469
|
0.00001
|
|
NM_002661.5(PLCG2):c.2828C>G (p.Thr943Ser)
|
rs771302628
|
0.00001
|
|
NM_002661.5(PLCG2):c.591C>T (p.Leu197=)
|
rs1440994305
|
0.00001
|
|
NM_002661.5(PLCG2):c.843T>C (p.Ala281=)
|
rs755732530
|
0.00001
|
|
NM_002691.4(POLD1):c.1681C>A (p.Arg561=)
|
rs368738479
|
0.00001
|
|
NM_002691.4(POLD1):c.933C>T (p.Arg311=)
|
rs749278926
|
0.00001
|
|
NM_002693.3(POLG):c.1023+17G>A
|
rs778750911
|
0.00001
|
|
NM_002693.3(POLG):c.30C>T (p.Ala10=)
|
rs1060504037
|
0.00001
|
|
NM_002755.4(MAP2K1):c.693+20T>C
|
rs753107656
|
0.00001
|
|
NM_002834.5(PTPN11):c.1011G>A (p.Thr337=)
|
rs371951288
|
0.00001
|
|
NM_002834.5(PTPN11):c.1047C>T (p.Asn349=)
|
rs1222504763
|
0.00001
|
|
NM_002834.5(PTPN11):c.1131A>C (p.Leu377=)
|
rs370059077
|
0.00001
|
|
NM_002834.5(PTPN11):c.1233G>A (p.Thr411=)
|
rs1325353647
|
0.00001
|
|
NM_002834.5(PTPN11):c.1650G>A (p.Ala550=)
|
rs374896287
|
0.00001
|
|
NM_002834.5(PTPN11):c.874C>T (p.Leu292=)
|
rs930267460
|
0.00001
|
|
NM_002968.3(SALL1):c.2259C>T (p.Tyr753=)
|
rs1015061989
|
0.00001
|
|
NM_002968.3(SALL1):c.537C>T (p.Leu179=)
|
rs200539812
|
0.00001
|
|
NM_003072.5(SMARCA4):c.1813-15A>G
|
rs751661108
|
0.00001
|
|
NM_003072.5(SMARCA4):c.2505+14A>G
|
rs779882147
|
0.00001
|
|
NM_003072.5(SMARCA4):c.3396G>A (p.Ala1132=)
|
rs1060504446
|
0.00001
|
|
NM_003239.5(TGFB3):c.294G>A (p.Ser98=)
|
rs778214495
|
0.00001
|
|
NM_003242.6(TGFBR2):c.1208G>A (p.Arg403His)
|
rs143095746
|
0.00001
|
|
NM_003392.7(WNT5A):c.291G>A (p.Ala97=)
|
rs762941459
|
0.00001
|
|
NM_003482.4(KMT2D):c.14581G>A (p.Asp4861Asn)
|
rs202167830
|
0.00001
|
|
NM_003640.5(ELP1):c.1190-4G>A
|
rs774965847
|
0.00001
|
|
NM_003640.5(ELP1):c.1263A>G (p.Pro421=)
|
rs371100951
|
0.00001
|
|
NM_003640.5(ELP1):c.1909-17C>G
|
rs373498962
|
0.00001
|
|
NM_003640.5(ELP1):c.2460C>T (p.Cys820=)
|
rs181121832
|
0.00001
|
|
NM_003640.5(ELP1):c.2547A>G (p.Pro849=)
|
rs764837607
|
0.00001
|
|
NM_003640.5(ELP1):c.2778A>G (p.Lys926=)
|
rs751179612
|
0.00001
|
|
NM_003640.5(ELP1):c.2847C>T (p.His949=)
|
rs529456133
|
0.00001
|
|
NM_003640.5(ELP1):c.3205T>C (p.Leu1069=)
|
rs112178985
|
0.00001
|
|
NM_003640.5(ELP1):c.3819T>C (p.Ile1273=)
|
rs201242444
|
0.00001
|
|
NM_003640.5(ELP1):c.3855+18C>T
|
rs557015443
|
0.00001
|
|
NM_003640.5(ELP1):c.888A>G (p.Ala296=)
|
rs371923882
|
0.00001
|
|
NM_003722.5(TP63):c.156A>G (p.Pro52=)
|
rs780898702
|
0.00001
|
|
NM_003722.5(TP63):c.992+4A>C
|
rs534974406
|
0.00001
|
|
NM_003977.4(AIP):c.792C>T (p.Asn264=)
|
rs780707460
|
0.00001
|
|
NM_003982.4(SLC7A7):c.447G>A (p.Pro149=)
|
rs375485114
|
0.00001
|
|
NM_003982.4(SLC7A7):c.588C>T (p.Ile196=)
|
rs747530058
|
0.00001
|
|
NM_004004.6(GJB2):c.474C>T (p.Tyr158=)
|
rs375759781
|
0.00001
|
|
NM_004006.3(DMD):c.2381-7T>G
|
rs1201559737
|
0.00001
|
|
NM_004048.4(B2M):c.67+12C>T
|
rs771780544
|
0.00001
|
|
NM_004064.5(CDKN1B):c.476-10C>T
|
rs200108977
|
0.00001
|
|
NM_004100.5(EYA4):c.1494C>T (p.Asn498=)
|
rs748934740
|
0.00001
|
|
NM_004100.5(EYA4):c.1840-16T>G
|
rs1039495587
|
0.00001
|
|
NM_004130.4(GYG1):c.137C>G (p.Ser46Cys)
|
rs142784073
|
0.00001
|
|
NM_004168.4(SDHA):c.585G>C (p.Arg195=)
|
rs766339992
|
0.00001
|
|
NM_004168.4(SDHA):c.954C>T (p.Leu318=)
|
rs1412623947
|
0.00001
|
|
NM_004181.5(UCHL1):c.175-4G>A
|
rs778240876
|
0.00001
|
|
NM_004333.6(BRAF):c.1338G>A (p.Ser446=)
|
rs765215499
|
0.00001
|
|
NM_004333.6(BRAF):c.1848C>A (p.Ser616=)
|
rs752115982
|
0.00001
|
|
NM_004333.6(BRAF):c.1992+15C>T
|
rs766089848
|
0.00001
|
|
NM_004333.6(BRAF):c.298T>C (p.Leu100=)
|
rs761709697
|
0.00001
|
|
NM_004333.6(BRAF):c.712-18T>C
|
rs535496777
|
0.00001
|
|
NM_004360.5(CDH1):c.2358C>T (p.Asp786=)
|
rs760701558
|
0.00001
|
|
NM_004366.6(CLCN2):c.221-4C>A
|
rs748018356
|
0.00001
|
|
NM_004366.6(CLCN2):c.481+18G>A
|
rs759220889
|
0.00001
|
|
NM_004366.6(CLCN2):c.672C>T (p.Ser224=)
|
rs755629585
|
0.00001
|
|
NM_004370.6(COL12A1):c.363G>A (p.Val121=)
|
rs559388395
|
0.00001
|
|
NM_004370.6(COL12A1):c.74-19T>C
|
rs564822630
|
0.00001
|
|
NM_004380.3(CREBBP):c.2064G>A (p.Pro688=)
|
rs766050154
|
0.00001
|
|
NM_004380.3(CREBBP):c.3465C>T (p.Asp1155=)
|
rs1447337021
|
0.00001
|
|
NM_004380.3(CREBBP):c.4992C>T (p.Arg1664=)
|
rs756979739
|
0.00001
|
|
NM_004380.3(CREBBP):c.6450G>A (p.Pro2150=)
|
rs371497730
|
0.00001
|
|
NM_004380.3(CREBBP):c.6684C>T (p.His2228=)
|
rs138613594
|
0.00001
|
|
NM_004380.3(CREBBP):c.960C>T (p.Thr320=)
|
rs898885851
|
0.00001
|
|
NM_004408.4(DNM1):c.44G>A (p.Arg15Gln)
|
rs763288862
|
0.00001
|
|
NM_004408.4(DNM1):c.633C>T (p.Asp211=)
|
rs1043525791
|
0.00001
|
|
NM_004415.4(DSP):c.1545G>A (p.Pro515=)
|
rs747953037
|
0.00001
|
|
NM_004415.4(DSP):c.1860G>A (p.Gln620=)
|
rs762658467
|
0.00001
|
|
NM_004415.4(DSP):c.3843C>T (p.Gly1281=)
|
rs757848395
|
0.00001
|
|
NM_004415.4(DSP):c.3864G>A (p.Lys1288=)
|
rs768166626
|
0.00001
|
|
NM_004415.4(DSP):c.6441C>A (p.Val2147=)
|
rs762513279
|
0.00001
|
|
NM_004415.4(DSP):c.8277C>T (p.Arg2759=)
|
rs1248664648
|
0.00001
|
|
NM_004415.4(DSP):c.8508A>G (p.Gly2836=)
|
rs754074127
|
0.00001
|
|
NM_004415.4(DSP):c.8511T>C (p.Ser2837=)
|
rs757475874
|
0.00001
|
|
NM_004415.4(DSP):c.939+19G>T
|
rs777724973
|
0.00001
|
|
NM_004484.4(GPC3):c.1698C>T (p.Thr566=)
|
rs201310379
|
0.00001
|
|
NM_004484.4(GPC3):c.450A>G (p.Thr150=)
|
rs1569426383
|
0.00001
|
|
NM_004484.4(GPC3):c.696T>C (p.Ala232=)
|
rs2071695506
|
0.00001
|
|
NM_004484.4(GPC3):c.918T>C (p.Leu306=)
|
rs753655328
|
0.00001
|
|
NM_004525.3(LRP2):c.1042+20G>A
|
rs533964308
|
0.00001
|
|
NM_004525.3(LRP2):c.11451C>T (p.Cys3817=)
|
rs745376364
|
0.00001
|
|
NM_004525.3(LRP2):c.12330T>A (p.Ser4110=)
|
rs751512062
|
0.00001
|
|
NM_004525.3(LRP2):c.13363T>C (p.Leu4455=)
|
rs748926618
|
0.00001
|
|
NM_004525.3(LRP2):c.13410C>T (p.Pro4470=)
|
rs1419052115
|
0.00001
|
|
NM_004525.3(LRP2):c.1827A>G (p.Leu609=)
|
rs186137585
|
0.00001
|
|
NM_004525.3(LRP2):c.3430+10G>A
|
rs375941769
|
0.00001
|
|
NM_004525.3(LRP2):c.3501C>T (p.Val1167=)
|
rs764906118
|
0.00001
|
|
NM_004525.3(LRP2):c.7515C>T (p.Arg2505=)
|
rs773316402
|
0.00001
|
|
NM_004525.3(LRP2):c.80-10A>G
|
rs769089398
|
0.00001
|
|
NM_004525.3(LRP2):c.876C>T (p.Cys292=)
|
rs201503356
|
0.00001
|
|
NM_004525.3(LRP2):c.9891T>C (p.Ser3297=)
|
rs1486598660
|
0.00001
|
|
NM_004560.4(ROR2):c.1605C>T (p.Asn535=)
|
rs769352677
|
0.00001
|
|
NM_004621.6(TRPC6):c.996C>T (p.Leu332=)
|
rs200144852
|
0.00001
|
|
NM_004629.2(FANCG):c.1086C>T (p.Asp362=)
|
rs376623996
|
0.00001
|
|
NM_004629.2(FANCG):c.124T>C (p.Leu42=)
|
rs775053536
|
0.00001
|
|
NM_004629.2(FANCG):c.1365C>G (p.Thr455=)
|
rs767385265
|
0.00001
|
|
NM_004629.2(FANCG):c.1433+12G>A
|
rs201070684
|
0.00001
|
|
NM_004629.2(FANCG):c.1818C>T (p.Asp606=)
|
rs766524415
|
0.00001
|
|
NM_004629.2(FANCG):c.549T>C (p.Thr183=)
|
rs1163330730
|
0.00001
|
|
NM_004646.4(NPHS1):c.2634C>T (p.Asn878=)
|
rs746676515
|
0.00001
|
|
NM_004646.4(NPHS1):c.3546G>A (p.Thr1182=)
|
rs761090110
|
0.00001
|
|
NM_004646.4(NPHS1):c.3594+9C>T
|
rs766396905
|
0.00001
|
|
NM_004646.4(NPHS1):c.393C>T (p.Ile131=)
|
rs181246281
|
0.00001
|
|
NM_004795.4(KL):c.486G>A (p.Ala162=)
|
rs371131557
|
0.00001
|
|
NM_004836.7(EIF2AK3):c.1446A>G (p.Leu482=)
|
rs753150455
|
0.00001
|
|
NM_004836.7(EIF2AK3):c.441A>G (p.Val147=)
|
rs138199678
|
0.00001
|
|
NM_004836.7(EIF2AK3):c.906A>C (p.Glu302Asp)
|
rs549674310
|
0.00001
|
|
NM_004924.6(ACTN4):c.1680C>T (p.Ile560=)
|
rs200269395
|
0.00001
|
|
NM_004924.6(ACTN4):c.2011-4G>A
|
rs377158228
|
0.00001
|
|
NM_004937.3(CTNS):c.729C>T (p.Leu243=)
|
rs762142619
|
0.00001
|
|
NM_004937.3(CTNS):c.822C>T (p.Leu274=)
|
rs150773117
|
0.00001
|
|
NM_004944.4(DNASE1L3):c.320+17C>A
|
rs376951611
|
0.00001
|
|
NM_004991.4(MECOM):c.2352T>C (p.Ser784=)
|
rs370860789
|
0.00001
|
|
NM_004998.4(MYO1E):c.2179T>C (p.Leu727=)
|
rs774695459
|
0.00001
|
|
NM_005045.4(RELN):c.3147-15C>T
|
rs773147896
|
0.00001
|
|
NM_005045.4(RELN):c.7182G>A (p.Ala2394=)
|
rs879182818
|
0.00001
|
|
NM_005120.3(MED12):c.1974+15C>T
|
rs186876895
|
0.00001
|
|
NM_005219.5(DIAPH1):c.3276C>T (p.Ser1092=)
|
rs369559394
|
0.00001
|
|
NM_005477.3(HCN4):c.3261C>T (p.Ser1087=)
|
rs537717251
|
0.00001
|
|
NM_005506.4(SCARB2):c.276-17C>T
|
rs1732375088
|
0.00001
|
|
NM_005506.4(SCARB2):c.33G>T (p.Thr11=)
|
rs774721226
|
0.00001
|
|
NM_005515.4(MNX1):c.1193C>T (p.Pro398Leu)
|
rs548959409
|
0.00001
|
|
NM_005515.4(MNX1):c.692-18C>T
|
rs775967115
|
0.00001
|
|
NM_005585.5(SMAD6):c.887C>T (p.Ser296Phe)
|
rs200374822
|
0.00001
|
|
NM_005633.4(SOS1):c.1848T>C (p.His616=)
|
rs1344852617
|
0.00001
|
|
NM_005633.4(SOS1):c.2604T>C (p.Phe868=)
|
rs756520305
|
0.00001
|
|
NM_005633.4(SOS1):c.984C>T (p.Gly328=)
|
rs778223456
|
0.00001
|
|
NM_005751.5(AKAP9):c.1044A>C (p.Leu348=)
|
rs747912745
|
0.00001
|
|
NM_005751.5(AKAP9):c.8052A>G (p.Glu2684=)
|
rs878854810
|
0.00001
|
|
NM_005957.5(MTHFR):c.1371T>C (p.Asp457=)
|
rs1428673436
|
0.00001
|
|
NM_006005.3(WFS1):c.1179C>T (p.Ala393=)
|
rs746433560
|
0.00001
|
|
NM_006005.3(WFS1):c.1365G>A (p.Thr455=)
|
rs769749907
|
0.00001
|
|
NM_006005.3(WFS1):c.1560G>A (p.Gln520=)
|
rs776513501
|
0.00001
|
|
NM_006005.3(WFS1):c.2286G>A (p.Lys762=)
|
rs200663929
|
0.00001
|
|
NM_006005.3(WFS1):c.2388C>T (p.Asp796=)
|
rs71532868
|
0.00001
|
|
NM_006005.3(WFS1):c.33C>A (p.Ser11=)
|
rs1185590827
|
0.00001
|
|
NM_006005.3(WFS1):c.816C>T (p.Asp272=)
|
rs762774307
|
0.00001
|
|
NM_006073.4(TRDN):c.502G>A (p.Glu168Lys)
|
rs545032318
|
0.00001
|
|
NM_006208.3(ENPP1):c.2311+8A>G
|
rs760047831
|
0.00001
|
|
NM_006208.3(ENPP1):c.795+12A>G
|
rs1781980876
|
0.00001
|
|
NM_006231.4(POLE):c.415C>T (p.Leu139=)
|
rs1302399839
|
0.00001
|
|
NM_006231.4(POLE):c.5559C>T (p.Ile1853=)
|
rs1032264693
|
0.00001
|
|
NM_006514.4(SCN10A):c.1867+8C>T
|
rs370354229
|
0.00001
|
|
NM_006565.4(CTCF):c.1962A>C (p.Arg654=)
|
rs772451262
|
0.00001
|
|
NM_006642.5(SDCCAG8):c.1503T>C (p.Asp501=)
|
rs757292520
|
0.00001
|
|
NM_006642.5(SDCCAG8):c.2004G>A (p.Lys668=)
|
rs754838222
|
0.00001
|
|
NM_006662.3(SRCAP):c.3513A>G (p.Leu1171=)
|
rs147309641
|
0.00001
|
|
NM_006662.3(SRCAP):c.9690G>A (p.Thr3230=)
|
rs973709922
|
0.00001
|
|
NM_006922.4(SCN3A):c.2392-9A>G
|
rs199781617
|
0.00001
|
|
NM_007078.3(LDB3):c.328G>A (p.Ala110Thr)
|
rs768737496
|
0.00001
|
|
NM_007214.5(SEC63):c.2028A>G (p.Thr676=)
|
rs781747090
|
0.00001
|
|
NM_007254.4(PNKP):c.499-7A>C
|
rs909512959
|
0.00001
|
|
NM_012200.4(B3GAT3):c.619-12G>A
|
rs372473452
|
0.00001
|
|
NM_012210.4(TRIM32):c.474A>G (p.Glu158=)
|
rs955416816
|
0.00001
|
|
NM_012330.4(KAT6B):c.1782A>G (p.Arg594=)
|
rs376823181
|
0.00001
|
|
NM_012330.4(KAT6B):c.2115+13T>A
|
rs375539342
|
0.00001
|
|
NM_012330.4(KAT6B):c.282G>A (p.Gly94=)
|
rs569038847
|
0.00001
|
|
NM_012330.4(KAT6B):c.2991G>A (p.Val997=)
|
rs1421489322
|
0.00001
|
|
NM_012330.4(KAT6B):c.3117A>G (p.Val1039=)
|
rs779092722
|
0.00001
|
|
NM_012330.4(KAT6B):c.4080A>G (p.Glu1360=)
|
rs546432678
|
0.00001
|
|
NM_012330.4(KAT6B):c.5112C>T (p.Cys1704=)
|
rs767983250
|
0.00001
|
|
NM_012431.3(SEMA3E):c.2034C>T (p.Val678=)
|
rs146635766
|
0.00001
|
|
NM_012431.3(SEMA3E):c.765A>C (p.Ala255=)
|
rs143878781
|
0.00001
|
|
NM_013339.4(ALG6):c.1341C>T (p.Val447=)
|
rs777326636
|
0.00001
|
|
NM_014000.3(VCL):c.2001G>A (p.Thr667=)
|
rs747424067
|
0.00001
|
|
NM_014000.3(VCL):c.239+11G>A
|
rs918332199
|
0.00001
|
|
NM_014000.3(VCL):c.3381T>C (p.Val1127=)
|
rs943734765
|
0.00001
|
|
NM_014009.4(FOXP3):c.124G>A (p.Gly42Arg)
|
rs782178764
|
0.00001
|
|
NM_014028.4(OSTM1):c.960C>G (p.Leu320=)
|
rs201793834
|
0.00001
|
|
NM_014140.4(SMARCAL1):c.1464C>T (p.Ser488=)
|
rs139469074
|
0.00001
|
|
NM_014140.4(SMARCAL1):c.189G>A (p.Lys63=)
|
rs1360338749
|
0.00001
|
|
NM_014140.4(SMARCAL1):c.2245-10G>T
|
rs759266842
|
0.00001
|
|
NM_014140.4(SMARCAL1):c.2289G>A (p.Glu763=)
|
rs918169495
|
0.00001
|
|
NM_014140.4(SMARCAL1):c.2454G>A (p.Val818=)
|
rs1325176430
|
0.00001
|
|
NM_014140.4(SMARCAL1):c.2478C>T (p.Ser826=)
|
rs367698810
|
0.00001
|
|
NM_014140.4(SMARCAL1):c.2787C>T (p.Ser929=)
|
rs755396021
|
0.00001
|
|
NM_014159.7(SETD2):c.2997A>G (p.Val999=)
|
rs1387514420
|
0.00001
|
|
NM_014239.4(EIF2B2):c.672C>T (p.Ala224=)
|
rs528714025
|
0.00001
|
|
NM_014244.5(ADAMTS2):c.1068C>T (p.His356=)
|
rs372834434
|
0.00001
|
|
NM_014244.5(ADAMTS2):c.1492C>T (p.Leu498=)
|
rs1182897591
|
0.00001
|
|
NM_014249.4(NR2E3):c.222C>T (p.Ser74=)
|
rs767304567
|
0.00001
|
|
NM_014264.5(PLK4):c.609A>G (p.Thr203=)
|
rs564323488
|
0.00001
|
|
NM_014317.5(PDSS1):c.227+10C>T
|
rs778136255
|
0.00001
|
|
NM_014363.6(SACS):c.13284C>T (p.Tyr4428=)
|
rs753277514
|
0.00001
|
|
NM_014425.5(INVS):c.1671C>T (p.Ile557=)
|
rs770524429
|
0.00001
|
|
NM_014425.5(INVS):c.2394C>G (p.Leu798=)
|
rs751531097
|
0.00001
|
|
NM_014425.5(INVS):c.867A>C (p.Gly289=)
|
rs1227795087
|
0.00001
|
|
NM_014625.4(NPHS2):c.138G>T (p.Ser46=)
|
rs1053139144
|
0.00001
|
|
NM_014714.4(IFT140):c.1359+17C>T
|
rs767520111
|
0.00001
|
|
NM_014714.4(IFT140):c.1425G>C (p.Arg475=)
|
rs1312262491
|
0.00001
|
|
NM_014714.4(IFT140):c.1433-15C>T
|
rs749683523
|
0.00001
|
|
NM_014714.4(IFT140):c.2661G>A (p.Glu887=)
|
rs1287846996
|
0.00001
|
|
NM_014714.4(IFT140):c.2916C>T (p.Asp972=)
|
rs148945612
|
0.00001
|
|
NM_014714.4(IFT140):c.3672G>A (p.Ala1224=)
|
rs765766910
|
0.00001
|
|
NM_014714.4(IFT140):c.3789G>A (p.Pro1263=)
|
rs769211167
|
0.00001
|
|
NM_014714.4(IFT140):c.3864T>C (p.Ala1288=)
|
rs1181821502
|
0.00001
|
|
NM_014714.4(IFT140):c.4056C>T (p.Asp1352=)
|
rs140265753
|
0.00001
|
|
NM_014795.4(ZEB2):c.2256G>A (p.Thr752=)
|
rs772121083
|
0.00001
|
|
NM_014956.5(CEP164):c.1143C>T (p.Asp381=)
|
rs375647094
|
0.00001
|
|
NM_014956.5(CEP164):c.2268A>G (p.Glu756=)
|
rs750395570
|
0.00001
|
|
NM_014956.5(CEP164):c.3147G>A (p.Glu1049=)
|
rs575735586
|
0.00001
|
|
NM_014956.5(CEP164):c.3279-12C>T
|
rs749577674
|
0.00001
|
|
NM_014956.5(CEP164):c.3681C>T (p.Asp1227=)
|
rs371592315
|
0.00001
|
|
NM_015047.3(EMC1):c.2065-4C>T
|
rs777919151
|
0.00001
|
|
NM_015102.5(NPHP4):c.1725T>C (p.Pro575=)
|
rs376871620
|
0.00001
|
|
NM_015102.5(NPHP4):c.2612-19C>T
|
rs370230211
|
0.00001
|
|
NM_015102.5(NPHP4):c.3044+11_3044+13del
|
rs769643669
|
0.00001
|
|
NM_015102.5(NPHP4):c.3316-15G>A
|
rs745974669
|
0.00001
|
|
NM_015166.4(MLC1):c.882G>A (p.Pro294=)
|
rs200163312
|
0.00001
|
|
NM_015267.4(CUX2):c.560+3G>A
|
rs371759572
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.1029+8C>T
|
rs367844249
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.2522A>G (p.His841Arg)
|
rs766357656
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.3616+9G>T
|
rs934455196
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.3738C>T (p.Asp1246=)
|
rs1239622461
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.706T>C (p.Leu236=)
|
rs1266143274
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.882+12A>G
|
rs1264347960
|
0.00001
|
|
NM_015443.4(KANSL1):c.-89-17T>C
|
rs1051577933
|
0.00001
|
|
NM_015443.4(KANSL1):c.1289+9A>C
|
rs760002592
|
0.00001
|
|
NM_015474.4(SAMHD1):c.144G>A (p.Glu48=)
|
rs140157384
|
0.00001
|
|
NM_015662.3(IFT172):c.1314C>G (p.Pro438=)
|
rs1435972299
|
0.00001
|
|
NM_015662.3(IFT172):c.1929T>C (p.Ile643=)
|
rs375541145
|
0.00001
|
|
NM_015662.3(IFT172):c.2025C>T (p.Gly675=)
|
rs762659921
|
0.00001
|
|
NM_015662.3(IFT172):c.270C>A (p.Ile90=)
|
rs759058747
|
0.00001
|
|
NM_015662.3(IFT172):c.2796G>A (p.Glu932=)
|
rs566830176
|
0.00001
|
|
NM_015662.3(IFT172):c.337-11C>T
|
rs745921292
|
0.00001
|
|
NM_015662.3(IFT172):c.3530+11C>G
|
rs777469179
|
0.00001
|
|
NM_015662.3(IFT172):c.354G>A (p.Leu118=)
|
rs757988462
|
0.00001
|
|
NM_015662.3(IFT172):c.3924C>T (p.Ser1308=)
|
rs764778967
|
0.00001
|
|
NM_015662.3(IFT172):c.4014A>G (p.Val1338=)
|
rs527544045
|
0.00001
|
|
NM_015662.3(IFT172):c.4095C>T (p.Ile1365=)
|
rs747729113
|
0.00001
|
|
NM_015662.3(IFT172):c.4134G>A (p.Lys1378=)
|
rs1039315733
|
0.00001
|
|
NM_015662.3(IFT172):c.4539+11G>A
|
rs756814532
|
0.00001
|
|
NM_015662.3(IFT172):c.5124C>A (p.Asn1708Lys)
|
rs868748622
|
0.00001
|
|
NM_015713.5(RRM2B):c.322-7T>C
|
rs570137520
|
0.00001
|
|
NM_015909.4(NBAS):c.2990A>C (p.Glu997Ala)
|
rs538592084
|
0.00001
|
|
NM_015910.7(WDPCP):c.161-14C>T
|
rs755586280
|
0.00001
|
|
NM_015910.7(WDPCP):c.1941G>A (p.Gly647=)
|
rs765502945
|
0.00001
|
|
NM_015910.7(WDPCP):c.210G>A (p.Ala70=)
|
rs961809737
|
0.00001
|
|
NM_015910.7(WDPCP):c.2142T>C (p.Asn714=)
|
rs769550847
|
0.00001
|
|
NM_015910.7(WDPCP):c.325-17T>C
|
rs542348306
|
0.00001
|
|
NM_015910.7(WDPCP):c.654C>T (p.Pro218=)
|
rs375737055
|
0.00001
|
|
NM_015922.3(NSDHL):c.612C>T (p.Phe204=)
|
rs782252634
|
0.00001
|
|
NM_016204.4(GDF2):c.1281G>T (p.Gly427=)
|
rs781842184
|
0.00001
|
|
NM_016341.4(PLCE1):c.6862C>A (p.Pro2288Thr)
|
rs571727623
|
0.00001
|
|
NM_016356.5(DCDC2):c.923-18G>A
|
rs768651764
|
0.00001
|
|
NM_016360.4(TACO1):c.27A>G (p.Leu9=)
|
rs1437447929
|
0.00001
|
|
NM_016938.5(EFEMP2):c.927C>T (p.Cys309=)
|
rs766494495
|
0.00001
|
|
NM_017570.5(OPLAH):c.1437C>T (p.Asp479=)
|
rs782608385
|
0.00001
|
|
NM_017570.5(OPLAH):c.816C>T (p.Gly272=)
|
rs533428247
|
0.00001
|
|
NM_017636.4(TRPM4):c.1893T>C (p.Tyr631=)
|
rs765927799
|
0.00001
|
|
NM_017636.4(TRPM4):c.2205T>C (p.Pro735=)
|
rs200681329
|
0.00001
|
|
NM_017636.4(TRPM4):c.2895C>T (p.Arg965=)
|
rs1271791433
|
0.00001
|
|
NM_017649.5(CNNM2):c.1765+11T>C
|
rs901937775
|
0.00001
|
|
NM_017649.5(CNNM2):c.2322A>G (p.Thr774=)
|
rs756002318
|
0.00001
|
|
NM_017662.5(TRPM6):c.3094+19C>T
|
rs532772332
|
0.00001
|
|
NM_017739.4(POMGNT1):c.1365G>A (p.Arg455=)
|
rs774554415
|
0.00001
|
|
NM_017780.4(CHD7):c.1116A>C (p.Ser372=)
|
rs760034378
|
0.00001
|
|
NM_017780.4(CHD7):c.1626A>G (p.Pro542=)
|
rs747791210
|
0.00001
|
|
NM_017780.4(CHD7):c.1704G>A (p.Pro568=)
|
rs765715877
|
0.00001
|
|
NM_017780.4(CHD7):c.2643T>C (p.Tyr881=)
|
rs587783433
|
0.00001
|
|
NM_017780.4(CHD7):c.3483A>G (p.Thr1161=)
|
rs371212381
|
0.00001
|
|
NM_017780.4(CHD7):c.3778+16T>G
|
rs1037329080
|
0.00001
|
|
NM_017780.4(CHD7):c.4047C>T (p.Ile1349=)
|
rs747100145
|
0.00001
|
|
NM_017780.4(CHD7):c.4850+18C>T
|
rs375486200
|
0.00001
|
|
NM_017780.4(CHD7):c.486G>A (p.Gln162=)
|
rs201635864
|
0.00001
|
|
NM_017780.4(CHD7):c.5865G>A (p.Arg1955=)
|
rs1448374029
|
0.00001
|
|
NM_017780.4(CHD7):c.7233C>T (p.Ala2411=)
|
rs771141688
|
0.00001
|
|
NM_017780.4(CHD7):c.7485G>T (p.Arg2495Ser)
|
rs547209998
|
0.00001
|
|
NM_017780.4(CHD7):c.7609-4G>T
|
rs955067555
|
0.00001
|
|
NM_017780.4(CHD7):c.8389C>T (p.Pro2797Ser)
|
rs769500488
|
0.00001
|
|
NM_017780.4(CHD7):c.861G>A (p.Pro287=)
|
rs1007919674
|
0.00001
|
|
NM_017849.4(TMEM127):c.426C>T (p.Thr142=)
|
rs552787569
|
0.00001
|
|
NM_017849.4(TMEM127):c.534C>T (p.Tyr178=)
|
rs550833832
|
0.00001
|
|
NM_017909.4(RMND1):c.201C>A (p.Ile67=)
|
rs182333944
|
0.00001
|
|
NM_017909.4(RMND1):c.501C>T (p.Asn167=)
|
rs374790732
|
0.00001
|
|
NM_017947.4(MOCOS):c.1425G>A (p.Leu475=)
|
rs531863176
|
0.00001
|
|
NM_017947.4(MOCOS):c.1960+13C>T
|
rs780074634
|
0.00001
|
|
NM_018062.4(FANCL):c.1093-19_1093-9dup
|
rs771654902
|
0.00001
|
|
NM_018062.4(FANCL):c.525C>T (p.Ala175=)
|
rs757892335
|
0.00001
|
|
NM_018062.4(FANCL):c.621C>T (p.Ile207=)
|
rs374195602
|
0.00001
|
|
NM_018062.4(FANCL):c.903+10A>G
|
rs779834767
|
0.00001
|
|
NM_018297.4(NGLY1):c.801T>C (p.Ser267=)
|
rs199578758
|
0.00001
|
|
NM_018344.6(SLC29A3):c.111C>T (p.Asp37=)
|
rs773183035
|
0.00001
|
|
NM_018979.4(WNK1):c.1400+15T>C
|
rs770261817
|
0.00001
|
|
NM_018979.4(WNK1):c.1952-18G>A
|
rs769918304
|
0.00001
|
|
NM_018979.4(WNK1):c.1983C>T (p.Ser661=)
|
rs766388537
|
0.00001
|
|
NM_018979.4(WNK1):c.3390C>T (p.Asp1130=)
|
rs139904730
|
0.00001
|
|
NM_018979.4(WNK1):c.5584-5A>G
|
rs771801197
|
0.00001
|
|
NM_018979.4(WNK1):c.5697T>C (p.Ser1899=)
|
rs778453551
|
0.00001
|
|
NM_018979.4(WNK1):c.6096G>A (p.Ser2032=)
|
rs768679171
|
0.00001
|
|
NM_019109.5(ALG1):c.1084C>T (p.Leu362=)
|
rs1366814290
|
0.00001
|
|
NM_019109.5(ALG1):c.1263+8C>T
|
rs1442144835
|
0.00001
|
|
NM_019109.5(ALG1):c.126C>T (p.Asp42=)
|
rs1203067807
|
0.00001
|
|
NM_019109.5(ALG1):c.22C>T (p.Leu8=)
|
rs144712188
|
0.00001
|
|
NM_019109.5(ALG1):c.978G>A (p.Arg326=)
|
rs746218352
|
0.00001
|
|
NM_020207.7(ERCC6L2):c.3839A>C (p.Gln1280Pro)
|
rs554013810
|
0.00001
|
|
NM_020297.4(ABCC9):c.1671C>A (p.Thr557=)
|
rs746467455
|
0.00001
|
|
NM_020347.4(LZTFL1):c.384+12G>T
|
rs538612017
|
0.00001
|
|
NM_020436.5(SALL4):c.609C>A (p.Ala203=)
|
rs200416079
|
0.00001
|
|
NM_020632.3(ATP6V0A4):c.118-10G>A
|
rs191616896
|
0.00001
|
|
NM_020638.3(FGF23):c.51C>T (p.Cys17=)
|
rs752187740
|
0.00001
|
|
NM_020774.4(MIB1):c.228C>G (p.Thr76=)
|
rs757518044
|
0.00001
|
|
NM_020937.4(FANCM):c.1184-20C>A
|
rs763504552
|
0.00001
|
|
NM_020937.4(FANCM):c.1530C>T (p.Gly510=)
|
rs367951081
|
0.00001
|
|
NM_020937.4(FANCM):c.2721T>G (p.Ala907=)
|
rs150172333
|
0.00001
|
|
NM_020937.4(FANCM):c.366C>G (p.Ala122=)
|
rs770311755
|
0.00001
|
|
NM_020937.4(FANCM):c.3837A>G (p.Ala1279=)
|
rs188061266
|
0.00001
|
|
NM_020937.4(FANCM):c.3888C>A (p.Ile1296=)
|
rs764040527
|
0.00001
|
|
NM_020949.3(SLC7A14):c.1515C>T (p.Asn505=)
|
rs199942498
|
0.00001
|
|
NM_020975.6(RET):c.1263+19C>T
|
rs371417381
|
0.00001
|
|
NM_020975.6(RET):c.138C>T (p.Ala46=)
|
rs1177522214
|
0.00001
|
|
NM_020975.6(RET):c.1649-7T>C
|
rs758817204
|
0.00001
|
|
NM_020975.6(RET):c.2679C>T (p.Phe893=)
|
rs768188546
|
0.00001
|
|
NM_020975.6(RET):c.2715C>T (p.Tyr905=)
|
rs755023496
|
0.00001
|
|
NM_020975.6(RET):c.625+11A>G
|
rs778239396
|
0.00001
|
|
NM_020999.4(NEUROG3):c.585G>A (p.Leu195=)
|
rs781384262
|
0.00001
|
|
NM_021098.3(CACNA1H):c.1317C>T (p.Arg439=)
|
rs753868121
|
0.00001
|
|
NM_021098.3(CACNA1H):c.1692C>T (p.Arg564=)
|
rs1259091648
|
0.00001
|
|
NM_021098.3(CACNA1H):c.2367C>T (p.Ile789=)
|
rs761519926
|
0.00001
|
|
NM_021098.3(CACNA1H):c.2406C>T (p.Ala802=)
|
rs745614463
|
0.00001
|
|
NM_021098.3(CACNA1H):c.2452-12C>T
|
rs762240161
|
0.00001
|
|
NM_021098.3(CACNA1H):c.282C>T (p.Leu94=)
|
rs960703593
|
0.00001
|
|
NM_021098.3(CACNA1H):c.3064-15C>T
|
rs371897810
|
0.00001
|
|
NM_021098.3(CACNA1H):c.312C>T (p.His104=)
|
rs370735613
|
0.00001
|
|
NM_021098.3(CACNA1H):c.3654C>T (p.Asp1218=)
|
rs200922359
|
0.00001
|
|
NM_021098.3(CACNA1H):c.3933C>T (p.Ile1311=)
|
rs200353061
|
0.00001
|
|
NM_021098.3(CACNA1H):c.4038+8G>A
|
rs555282047
|
0.00001
|
|
NM_021098.3(CACNA1H):c.4995A>G (p.Ala1665=)
|
rs776954477
|
0.00001
|
|
NM_021098.3(CACNA1H):c.5091G>A (p.Thr1697=)
|
rs779699766
|
0.00001
|
|
NM_021098.3(CACNA1H):c.545+10G>T
|
rs748867788
|
0.00001
|
|
NM_021098.3(CACNA1H):c.5529C>T (p.Phe1843=)
|
rs758391189
|
0.00001
|
|
NM_021098.3(CACNA1H):c.5934C>T (p.Ser1978=)
|
rs896695448
|
0.00001
|
|
NM_021098.3(CACNA1H):c.6027C>T (p.Leu2009=)
|
rs766357140
|
0.00001
|
|
NM_021098.3(CACNA1H):c.6441G>A (p.Pro2147=)
|
rs759684037
|
0.00001
|
|
NM_021098.3(CACNA1H):c.6486C>T (p.Ser2162=)
|
rs113962757
|
0.00001
|
|
NM_021098.3(CACNA1H):c.6783G>C (p.Leu2261=)
|
rs1176114621
|
0.00001
|
|
NM_021098.3(CACNA1H):c.825G>A (p.Leu275=)
|
rs747311145
|
0.00001
|
|
NM_021098.3(CACNA1H):c.843G>A (p.Thr281=)
|
rs761655532
|
0.00001
|
|
NM_021871.4(FGA):c.1560C>T (p.Phe520=)
|
rs778304190
|
0.00001
|
|
NM_021922.3(FANCE):c.1053T>G (p.Leu351=)
|
rs755165473
|
0.00001
|
|
NM_021922.3(FANCE):c.1237+20C>G
|
rs755688409
|
0.00001
|
|
NM_021922.3(FANCE):c.1384-14C>T
|
rs558453150
|
0.00001
|
|
NM_021922.3(FANCE):c.324G>A (p.Ser108=)
|
rs762826105
|
0.00001
|
|
NM_021922.3(FANCE):c.999C>T (p.Leu333=)
|
rs776082827
|
0.00001
|
|
NM_022042.4(SLC26A1):c.1506C>T (p.Ala502=)
|
rs753883088
|
0.00001
|
|
NM_022042.4(SLC26A1):c.639T>C (p.Asp213=)
|
rs369163740
|
0.00001
|
|
NM_022114.4(PRDM16):c.1884C>T (p.Asp628=)
|
rs762491643
|
0.00001
|
|
NM_022454.4(SOX17):c.654G>A (p.Pro218=)
|
rs770677973
|
0.00001
|
|
NM_022455.5(NSD1):c.2007C>T (p.Phe669=)
|
rs530934556
|
0.00001
|
|
NM_022455.5(NSD1):c.4883T>C (p.Met1628Thr)
|
rs530920626
|
0.00001
|
|
NM_022455.5(NSD1):c.5610T>C (p.Tyr1870=)
|
rs1581507735
|
0.00001
|
|
NM_022489.4(INF2):c.1115C>T (p.Ser372Phe)
|
rs770882784
|
0.00001
|
|
NM_022489.4(INF2):c.1299C>T (p.Ser433=)
|
rs1431857911
|
0.00001
|
|
NM_022489.4(INF2):c.1503C>T (p.Pro501=)
|
rs1057520913
|
0.00001
|
|
NM_022489.4(INF2):c.2103C>T (p.Ala701=)
|
rs369998116
|
0.00001
|
|
NM_022489.4(INF2):c.2553G>A (p.Glu851=)
|
rs368901958
|
0.00001
|
|
NM_022489.4(INF2):c.2775+12C>T
|
rs200236783
|
0.00001
|
|
NM_022489.4(INF2):c.3054C>T (p.Asn1018=)
|
rs983208436
|
0.00001
|
|
NM_022489.4(INF2):c.3237T>C (p.Tyr1079=)
|
rs771664996
|
0.00001
|
|
NM_022489.4(INF2):c.489C>T (p.Asp163=)
|
rs769080446
|
0.00001
|
|
NM_022489.4(INF2):c.579C>T (p.Tyr193=)
|
rs986330062
|
0.00001
|
|
NM_022489.4(INF2):c.624C>T (p.Pro208=)
|
rs750610272
|
0.00001
|
|
NM_022489.4(INF2):c.654G>T (p.Arg218=)
|
rs745354738
|
0.00001
|
|
NM_022489.4(INF2):c.717C>T (p.Ala239=)
|
rs750808868
|
0.00001
|
|
NM_022489.4(INF2):c.765C>T (p.Asp255=)
|
rs758423191
|
0.00001
|
|
NM_023110.3(FGFR1):c.1185C>T (p.Ile395=)
|
rs756104594
|
0.00001
|
|
NM_023110.3(FGFR1):c.1308C>T (p.Ser436=)
|
rs546318124
|
0.00001
|
|
NM_023110.3(FGFR1):c.1978-13G>A
|
rs761708658
|
0.00001
|
|
NM_023110.3(FGFR1):c.1978-16C>T
|
rs764971696
|
0.00001
|
|
NM_023110.3(FGFR1):c.2058C>T (p.Phe686=)
|
rs1193961883
|
0.00001
|
|
NM_023110.3(FGFR1):c.2271C>T (p.Ile757=)
|
rs369782405
|
0.00001
|
|
NM_024079.5(ALG8):c.1276+10G>A
|
rs531081999
|
0.00001
|
|
NM_024079.5(ALG8):c.1578A>G (p.Gln526=)
|
rs479612
|
0.00001
|
|
NM_024079.5(ALG8):c.546+12T>G
|
rs1169043575
|
0.00001
|
|
NM_024407.5(NDUFS7):c.54-19G>A
|
rs562814009
|
0.00001
|
|
NM_024408.4(NOTCH2):c.1032C>T (p.Phe344=)
|
rs782702694
|
0.00001
|
|
NM_024408.4(NOTCH2):c.1248G>A (p.Val416=)
|
rs374135765
|
0.00001
|
|
NM_024408.4(NOTCH2):c.2026+6G>T
|
rs587731563
|
0.00001
|
|
NM_024408.4(NOTCH2):c.2295A>G (p.Pro765=)
|
rs139358772
|
0.00001
|
|
NM_024408.4(NOTCH2):c.6516C>T (p.Ser2172=)
|
rs587733506
|
0.00001
|
|
NM_024422.6(DSC2):c.2334C>T (p.Asn778=)
|
rs1282599604
|
0.00001
|
|
NM_024426.6(WT1):c.115C>A (p.Arg39=)
|
rs763147828
|
0.00001
|
|
NM_024426.6(WT1):c.27G>A (p.Pro9=)
|
rs556835183
|
0.00001
|
|
NM_024426.6(WT1):c.945C>T (p.Asn315=)
|
rs775085343
|
0.00001
|
|
NM_024514.5(CYP2R1):c.1001-5G>C
|
rs782338771
|
0.00001
|
|
NM_024529.5(CDC73):c.1551A>G (p.Thr517=)
|
rs752668844
|
0.00001
|
|
NM_024529.5(CDC73):c.1559+20A>G
|
rs1281829953
|
0.00001
|
|
NM_024529.5(CDC73):c.280C>T (p.Leu94=)
|
rs747811573
|
0.00001
|
|
NM_024529.5(CDC73):c.315G>A (p.Ser105=)
|
rs771258964
|
0.00001
|
|
NM_024529.5(CDC73):c.370+17A>G
|
rs760583012
|
0.00001
|
|
NM_024529.5(CDC73):c.519G>A (p.Leu173=)
|
rs749039338
|
0.00001
|
|
NM_024529.5(CDC73):c.730-14C>G
|
rs183077646
|
0.00001
|
|
NM_024649.5(BBS1):c.1470C>T (p.Ala490=)
|
rs772427832
|
0.00001
|
|
NM_024649.5(BBS1):c.1554G>T (p.Leu518=)
|
rs760568652
|
0.00001
|
|
NM_024649.5(BBS1):c.1776C>T (p.Ala592=)
|
rs1489468740
|
0.00001
|
|
NM_024649.5(BBS1):c.33C>A (p.Ala11=)
|
rs1336755113
|
0.00001
|
|
NM_024649.5(BBS1):c.432+17G>C
|
rs752185178
|
0.00001
|
|
NM_024675.4(PALB2):c.1164T>C (p.Pro388=)
|
rs1205215998
|
0.00001
|
|
NM_024675.4(PALB2):c.195G>A (p.Pro65=)
|
rs751176316
|
0.00001
|
|
NM_024675.4(PALB2):c.2587-12C>T
|
rs1266683395
|
0.00001
|
|
NM_024675.4(PALB2):c.2784G>A (p.Val928=)
|
rs763411245
|
0.00001
|
|
NM_024675.4(PALB2):c.2881C>T (p.Leu961=)
|
rs61755166
|
0.00001
|
|
NM_024675.4(PALB2):c.2985A>T (p.Ala995=)
|
rs786202892
|
0.00001
|
|
NM_024675.4(PALB2):c.3350+16T>G
|
rs515726115
|
0.00001
|
|
NM_024675.4(PALB2):c.735G>A (p.Ala245=)
|
rs371612049
|
0.00001
|
|
NM_024685.4(BBS10):c.2142T>G (p.Val714=)
|
rs1463359253
|
0.00001
|
|
NM_024685.4(BBS10):c.6A>G (p.Leu2=)
|
rs1333383849
|
0.00001
|
|
NM_024740.2(ALG9):c.1149C>T (p.Gly383=)
|
rs1057521573
|
0.00001
|
|
NM_024753.5(TTC21B):c.1386+15G>A
|
rs201281283
|
0.00001
|
|
NM_024753.5(TTC21B):c.894+13A>G
|
rs780758585
|
0.00001
|
|
NM_024884.3(L2HGDH):c.69C>G (p.Ser23=)
|
rs757365260
|
0.00001
|
|
NM_025074.7(FRAS1):c.2625C>T (p.Cys875=)
|
rs769192947
|
0.00001
|
|
NM_025099.6(CTC1):c.1899G>C (p.Leu633=)
|
rs983492190
|
0.00001
|
|
NM_025114.4(CEP290):c.102+13T>C
|
rs773325354
|
0.00001
|
|
NM_025114.4(CEP290):c.1712-9T>C
|
rs1412442444
|
0.00001
|
|
NM_025114.4(CEP290):c.1977G>A (p.Lys659=)
|
rs1313927656
|
0.00001
|
|
NM_025114.4(CEP290):c.2448T>C (p.Arg816=)
|
rs371851348
|
0.00001
|
|
NM_025114.4(CEP290):c.2587-19T>C
|
rs755086278
|
0.00001
|
|
NM_025114.4(CEP290):c.3435A>G (p.Glu1145=)
|
rs747972826
|
0.00001
|
|
NM_025114.4(CEP290):c.441+14T>G
|
rs765642954
|
0.00001
|
|
NM_025114.4(CEP290):c.4441C>T (p.Leu1481=)
|
rs1220385672
|
0.00001
|
|
NM_025114.4(CEP290):c.6027T>C (p.Leu2009=)
|
rs766355219
|
0.00001
|
|
NM_025114.4(CEP290):c.6150G>A (p.Glu2050=)
|
rs1175295227
|
0.00001
|
|
NM_025114.4(CEP290):c.6256T>C (p.Leu2086=)
|
rs374183249
|
0.00001
|
|
NM_025114.4(CEP290):c.6270+19A>G
|
rs1181927624
|
0.00001
|
|
NM_025114.4(CEP290):c.6642A>G (p.Lys2214=)
|
rs1409872235
|
0.00001
|
|
NM_025114.4(CEP290):c.6697T>C (p.Leu2233=)
|
rs755447230
|
0.00001
|
|
NM_025114.4(CEP290):c.7130-16A>G
|
rs1430895394
|
0.00001
|
|
NM_025114.4(CEP290):c.834C>T (p.Asn278=)
|
rs567493515
|
0.00001
|
|
NM_025132.4(WDR19):c.1350A>G (p.Leu450=)
|
rs770470368
|
0.00001
|
|
NM_025132.4(WDR19):c.2646-5T>C
|
rs771971475
|
0.00001
|
|
NM_025132.4(WDR19):c.2876+10T>C
|
rs773692164
|
0.00001
|
|
NM_025132.4(WDR19):c.2877-12A>G
|
rs754511582
|
0.00001
|
|
NM_025132.4(WDR19):c.42C>T (p.Gly14=)
|
rs531575276
|
0.00001
|
|
NM_025137.4(SPG11):c.3663C>A (p.Ile1221=)
|
rs1388337783
|
0.00001
|
|
NM_025219.3(DNAJC5):c.561C>T (p.Asp187=)
|
rs776807695
|
0.00001
|
|
NM_030665.4(RAI1):c.4911G>A (p.Ser1637=)
|
rs756222196
|
0.00001
|
|
NM_030667.3(PTPRO):c.1776C>T (p.Ser592=)
|
rs369419924
|
0.00001
|
|
NM_030787.4(CFHR5):c.1155G>T (p.Arg385Ser)
|
rs141358257
|
0.00001
|
|
NM_030943.4(AMN):c.207+9G>A
|
rs765056352
|
0.00001
|
|
NM_030943.4(AMN):c.492C>G (p.Arg164=)
|
rs1388154450
|
0.00001
|
|
NM_030943.4(AMN):c.969G>A (p.Arg323=)
|
rs899760936
|
0.00001
|
|
NM_031885.5(BBS2):c.117+17G>T
|
rs201119943
|
0.00001
|
|
NM_031885.5(BBS2):c.1530T>G (p.Val510=)
|
rs545597883
|
0.00001
|
|
NM_031885.5(BBS2):c.612+14C>G
|
rs770986334
|
0.00001
|
|
NM_031885.5(BBS2):c.810T>C (p.Asp270=)
|
rs1309546092
|
0.00001
|
|
NM_032122.5(DTNBP1):c.324C>T (p.Ile108=)
|
rs367543105
|
0.00001
|
|
NM_032383.5(HPS3):c.2967T>C (p.Phe989=)
|
rs1170514296
|
0.00001
|
|
NM_032444.4(SLX4):c.1872C>T (p.Ser624=)
|
rs767618166
|
0.00001
|
|
NM_032444.4(SLX4):c.2289T>C (p.Pro763=)
|
rs1389488864
|
0.00001
|
|
NM_032444.4(SLX4):c.2724G>A (p.Pro908=)
|
rs760071419
|
0.00001
|
|
NM_032444.4(SLX4):c.279C>G (p.Thr93=)
|
rs543091261
|
0.00001
|
|
NM_032444.4(SLX4):c.3064C>T (p.Leu1022=)
|
rs1391997347
|
0.00001
|
|
NM_032444.4(SLX4):c.3105C>T (p.Phe1035=)
|
rs1313995893
|
0.00001
|
|
NM_032444.4(SLX4):c.3588T>C (p.Asp1196=)
|
rs112016711
|
0.00001
|
|
NM_032444.4(SLX4):c.3634G>A (p.Ala1212Thr)
|
rs574844562
|
0.00001
|
|
NM_032444.4(SLX4):c.3741G>A (p.Glu1247=)
|
rs769032315
|
0.00001
|
|
NM_032444.4(SLX4):c.4824A>G (p.Ser1608=)
|
rs767845523
|
0.00001
|
|
NM_032444.4(SLX4):c.5214G>A (p.Gly1738=)
|
rs369714623
|
0.00001
|
|
NM_032578.4(MYPN):c.2704-13G>A
|
rs1381527530
|
0.00001
|
|
NM_032578.4(MYPN):c.3159-19A>C
|
rs754950593
|
0.00001
|
|
NM_032856.5(WDR73):c.816T>C (p.Pro272=)
|
rs374742538
|
0.00001
|
|
NM_033026.6(PCLO):c.4595G>A (p.Ser1532Asn)
|
rs557658951
|
0.00001
|
|
NM_033028.5(BBS4):c.408G>A (p.Glu136=)
|
rs201881253
|
0.00001
|
|
NM_033305.3(VPS13A):c.8356A>C (p.Arg2786=)
|
rs752608628
|
0.00001
|
|
NM_033337.3(CAV3):c.60G>A (p.Lys20=)
|
rs972788554
|
0.00001
|
|
NM_033380.3(COL4A5):c.1423+10C>T
|
rs1161395968
|
0.00001
|
|
NM_033380.3(COL4A5):c.2466A>G (p.Gly822=)
|
rs375746429
|
0.00001
|
|
NM_033380.3(COL4A5):c.2667T>C (p.Ser889=)
|
rs1258505968
|
0.00001
|
|
NM_033409.4(SLC52A3):c.834G>A (p.Thr278=)
|
rs756359704
|
0.00001
|
|
NM_033641.4(COL4A6):c.1654A>T (p.Ile552Phe)
|
rs748877857
|
0.00001
|
|
NM_053025.4(MYLK):c.1110G>A (p.Glu370=)
|
rs886038986
|
0.00001
|
|
NM_053025.4(MYLK):c.1839G>T (p.Leu613=)
|
rs771131171
|
0.00001
|
|
NM_053025.4(MYLK):c.4710G>A (p.Ser1570=)
|
rs778762375
|
0.00001
|
|
NM_057176.3(BSND):c.183C>T (p.Thr61=)
|
rs377452238
|
0.00001
|
|
NM_057176.3(BSND):c.288G>A (p.Pro96=)
|
rs752911029
|
0.00001
|
|
NM_057176.3(BSND):c.501C>T (p.Gly167=)
|
rs1463073048
|
0.00001
|
|
NM_058216.3(RAD51C):c.537C>T (p.His179=)
|
rs372385738
|
0.00001
|
|
NM_058216.3(RAD51C):c.79C>T (p.Leu27=)
|
rs786201775
|
0.00001
|
|
NM_058216.3(RAD51C):c.904+16G>C
|
rs929872458
|
0.00001
|
|
NM_130849.4(SLC39A4):c.1299C>T (p.Asp433=)
|
rs528212894
|
0.00001
|
|
NM_138413.4(HOGA1):c.294G>A (p.Gln98=)
|
rs777208958
|
0.00001
|
|
NM_138694.4(PKHD1):c.10311T>C (p.Phe3437=)
|
rs375770253
|
0.00001
|
|
NM_138694.4(PKHD1):c.10545T>C (p.Ile3515=)
|
rs562160590
|
0.00001
|
|
NM_138694.4(PKHD1):c.11104C>T (p.Leu3702=)
|
rs758082610
|
0.00001
|
|
NM_138694.4(PKHD1):c.12165G>A (p.Gly4055=)
|
rs757125119
|
0.00001
|
|
NM_138694.4(PKHD1):c.1917A>T (p.Val639=)
|
rs1192699542
|
0.00001
|
|
NM_138694.4(PKHD1):c.2034G>A (p.Pro678=)
|
rs769144028
|
0.00001
|
|
NM_138694.4(PKHD1):c.210C>T (p.Pro70=)
|
rs372103359
|
0.00001
|
|
NM_138694.4(PKHD1):c.3229-7T>G
|
rs780401384
|
0.00001
|
|
NM_138694.4(PKHD1):c.3735G>A (p.Ala1245=)
|
rs150985194
|
0.00001
|
|
NM_138694.4(PKHD1):c.5226G>A (p.Thr1742=)
|
rs747933439
|
0.00001
|
|
NM_138694.4(PKHD1):c.5271A>G (p.Gly1757=)
|
rs556583531
|
0.00001
|
|
NM_138694.4(PKHD1):c.5511C>T (p.Leu1837=)
|
rs1241103975
|
0.00001
|
|
NM_138694.4(PKHD1):c.5541C>G (p.Leu1847=)
|
rs1355951747
|
0.00001
|
|
NM_138694.4(PKHD1):c.5835C>T (p.Asn1945=)
|
rs1167596697
|
0.00001
|
|
NM_138694.4(PKHD1):c.6771T>C (p.Asn2257=)
|
rs1315333212
|
0.00001
|
|
NM_138694.4(PKHD1):c.7539A>G (p.Leu2513=)
|
rs746499996
|
0.00001
|
|
NM_138694.4(PKHD1):c.8292C>T (p.Leu2764=)
|
rs756431455
|
0.00001
|
|
NM_138694.4(PKHD1):c.8802T>C (p.Ser2934=)
|
rs1418482955
|
0.00001
|
|
NM_138694.4(PKHD1):c.9216G>A (p.Ala3072=)
|
rs764734730
|
0.00001
|
|
NM_139058.3(ARX):c.807C>T (p.Ala269=)
|
rs587783205
|
0.00001
|
|
NM_144573.4(NEXN):c.1413A>G (p.Arg471=)
|
rs780858511
|
0.00001
|
|
NM_144596.4(TTC8):c.114+12C>A
|
rs372634452
|
0.00001
|
|
NM_144596.4(TTC8):c.711-16A>C
|
rs747396066
|
0.00001
|
|
NM_144773.4(PROKR2):c.663G>A (p.Lys221=)
|
rs1051636587
|
0.00001
|
|
NM_144997.7(FLCN):c.1227C>T (p.Tyr409=)
|
rs561236067
|
0.00001
|
|
NM_144997.7(FLCN):c.1301-8T>C
|
rs571192457
|
0.00001
|
|
NM_144997.7(FLCN):c.1539-11G>C
|
rs368472222
|
0.00001
|
|
NM_144997.7(FLCN):c.619-8C>T
|
rs1274815686
|
0.00001
|
|
NM_144997.7(FLCN):c.780-13C>T
|
rs777670469
|
0.00001
|
|
NM_144997.7(FLCN):c.981A>G (p.Ala327=)
|
rs763078516
|
0.00001
|
|
NM_147127.5(EVC2):c.3007G>A (p.Glu1003Lys)
|
rs555666020
|
0.00001
|
|
NM_152296.5(ATP1A3):c.1218C>T (p.His406=)
|
rs1238469762
|
0.00001
|
|
NM_152296.5(ATP1A3):c.384C>G (p.Ala128=)
|
rs782662538
|
0.00001
|
|
NM_152618.3(BBS12):c.1884C>T (p.Asp628=)
|
rs1463043869
|
0.00001
|
|
NM_153240.5(NPHP3):c.1245T>G (p.Val415=)
|
rs772276779
|
0.00001
|
|
NM_153240.5(NPHP3):c.1404G>A (p.Glu468=)
|
rs770200607
|
0.00001
|
|
NM_153240.5(NPHP3):c.2259C>T (p.His753=)
|
rs765940696
|
0.00001
|
|
NM_153240.5(NPHP3):c.237G>A (p.Ser79=)
|
rs555921512
|
0.00001
|
|
NM_153240.5(NPHP3):c.2884-8C>T
|
rs757300023
|
0.00001
|
|
NM_153240.5(NPHP3):c.3135A>G (p.Gln1045=)
|
rs745568685
|
0.00001
|
|
NM_153240.5(NPHP3):c.3696+20C>T
|
rs773940041
|
0.00001
|
|
NM_153240.5(NPHP3):c.3816T>C (p.Tyr1272=)
|
rs777264064
|
0.00001
|
|
NM_153240.5(NPHP3):c.671-14C>A
|
rs370887292
|
0.00001
|
|
NM_153240.5(NPHP3):c.684A>G (p.Gln228=)
|
rs1369748544
|
0.00001
|
|
NM_153240.5(NPHP3):c.921A>G (p.Thr307=)
|
rs368874413
|
0.00001
|
|
NM_153704.6(TMEM67):c.1401A>G (p.Gln467=)
|
rs747752903
|
0.00001
|
|
NM_153704.6(TMEM67):c.1675-13T>A
|
rs144538020
|
0.00001
|
|
NM_153704.6(TMEM67):c.2440-11T>C
|
rs767482660
|
0.00001
|
|
NM_153704.6(TMEM67):c.2662-4T>C
|
rs374804519
|
0.00001
|
|
NM_153704.6(TMEM67):c.2765-4A>C
|
rs1242768505
|
0.00001
|
|
NM_153704.6(TMEM67):c.780C>T (p.Tyr260=)
|
rs966581270
|
0.00001
|
|
NM_153704.6(TMEM67):c.882T>C (p.Leu294=)
|
rs200110207
|
0.00001
|
|
NM_170707.4(LMNA):c.1155G>A (p.Glu385=)
|
rs878855232
|
0.00001
|
|
NM_170707.4(LMNA):c.1157+19G>A
|
rs757715731
|
0.00001
|
|
NM_170707.4(LMNA):c.12G>A (p.Pro4=)
|
rs369823958
|
0.00001
|
|
NM_170707.4(LMNA):c.153G>T (p.Ser51=)
|
rs751886390
|
0.00001
|
|
NM_170707.4(LMNA):c.1662G>A (p.Glu554=)
|
rs201936898
|
0.00001
|
|
NM_170707.4(LMNA):c.1699-9C>T
|
rs776616872
|
0.00001
|
|
NM_170707.4(LMNA):c.1731T>C (p.Ala577=)
|
rs776066211
|
0.00001
|
|
NM_170707.4(LMNA):c.369G>A (p.Lys123=)
|
rs367938270
|
0.00001
|
|
NM_170707.4(LMNA):c.96G>A (p.Lys32=)
|
rs775429079
|
0.00001
|
|
NM_170784.3(MKKS):c.1360C>T (p.Leu454=)
|
rs1210784201
|
0.00001
|
|
NM_170784.3(MKKS):c.1695T>C (p.Val565=)
|
rs554395344
|
0.00001
|
|
NM_170784.3(MKKS):c.210A>C (p.Thr70=)
|
rs1471154105
|
0.00001
|
|
NM_173551.5(ANKS6):c.2487G>A (p.Ala829=)
|
rs758679399
|
0.00001
|
|
NM_174934.4(SCN4B):c.21A>G (p.Gly7=)
|
rs1332884912
|
0.00001
|
|
NM_174936.4(PCSK9):c.1422C>T (p.Val474=)
|
rs373517174
|
0.00001
|
|
NM_174936.4(PCSK9):c.1423G>A (p.Ala475Thr)
|
rs773699134
|
0.00001
|
|
NM_174936.4(PCSK9):c.960C>T (p.Asp320=)
|
rs910368517
|
0.00001
|
|
NM_175875.5(SIX5):c.1629C>T (p.Asn543=)
|
rs768534722
|
0.00001
|
|
NM_176824.3(BBS7):c.1038-16A>G
|
rs201278442
|
0.00001
|
|
NM_176824.3(BBS7):c.1056G>A (p.Leu352=)
|
rs377163503
|
0.00001
|
|
NM_176824.3(BBS7):c.2136C>T (p.Phe712=)
|
rs199782217
|
0.00001
|
|
NM_177438.3(DICER1):c.1770T>C (p.Cys590=)
|
rs777355058
|
0.00001
|
|
NM_177438.3(DICER1):c.3269+12C>T
|
rs775380766
|
0.00001
|
|
NM_178170.3(NEK8):c.1035C>T (p.Ala345=)
|
rs751987503
|
0.00001
|
|
NM_178170.3(NEK8):c.1092C>T (p.Gly364=)
|
rs201321032
|
0.00001
|
|
NM_178170.3(NEK8):c.2010C>T (p.Ser670=)
|
rs566162608
|
0.00001
|
|
NM_182643.3(DLC1):c.3327+8C>T
|
rs559854315
|
0.00001
|
|
NM_182961.4(SYNE1):c.24600C>T (p.Phe8200=)
|
rs370421580
|
0.00001
|
|
NM_182961.4(SYNE1):c.4889C>T (p.Ala1630Val)
|
rs566004273
|
0.00001
|
|
NM_198252.3(GSN):c.1009C>T (p.Leu337=)
|
rs528161256
|
0.00001
|
|
NM_198252.3(GSN):c.1763-10C>T
|
rs750829888
|
0.00001
|
|
NM_198252.3(GSN):c.393C>T (p.Asn131=)
|
rs186654124
|
0.00001
|
|
NM_198253.3(TERT):c.3303G>A (p.Thr1101=)
|
rs551516320
|
0.00001
|
|
NM_198253.3(TERT):c.375C>T (p.Asn125=)
|
rs1751256209
|
0.00001
|
|
NM_198428.3(BBS9):c.1464T>C (p.Ser488=)
|
rs200850911
|
0.00001
|
|
NM_198428.3(BBS9):c.1790-7C>T
|
rs746901030
|
0.00001
|
|
NM_198428.3(BBS9):c.2448C>T (p.Cys816=)
|
rs375606348
|
0.00001
|
|
NM_201253.3(CRB1):c.1206T>C (p.Ser402=)
|
rs373229699
|
0.00001
|
|
NM_201253.3(CRB1):c.2823G>A (p.Pro941=)
|
rs62645757
|
0.00001
|
|
NM_201596.3(CACNB2):c.1683G>A (p.Glu561=)
|
rs773373763
|
0.00001
|
|
NM_201596.3(CACNB2):c.909G>A (p.Ala303=)
|
rs144509796
|
0.00001
|
|
NM_206933.4(USH2A):c.7334C>T (p.Ser2445Phe)
|
rs41315579
|
0.00001
|
|
NM_207361.6(FREM2):c.111C>T (p.Leu37=)
|
rs765770038
|
0.00001
|
|
NM_212482.4(FN1):c.548-10T>C
|
rs1407477861
|
0.00001
|
|
NM_000018.4(ACADVL):c.1941G>A (p.Val647=)
|
rs2142991254
|
|
|
NM_000030.3(AGXT):c.27C>G (p.Thr9=)
|
rs180177188
|
|
|
NM_000030.3(AGXT):c.32C>T (p.Pro11Leu)
|
rs34116584
|
|
|
NM_000030.3(AGXT):c.483C>G (p.Gly161=)
|
rs757583201
|
|
|
NM_000038.6(APC):c.422+10C>G
|
rs899376835
|
|
|
NM_000038.6(APC):c.423-4del
|
rs730881230
|
|
|
NM_000038.6(APC):c.423-4dup
|
rs730881230
|
|
|
NM_000038.6(APC):c.5265_5268delinsATCG (p.Ala1755_Ser1756=)
|
rs1554086584
|
|
|
NM_000039.3(APOA1):c.162G>C (p.Val54=)
|
rs193922099
|
|
|
NM_000044.6(AR):c.1370GCG[19] (p.Gly472_Gly473dup)
|
rs746853821
|
|
|
NM_000044.6(AR):c.171GCA[14] (p.Gln72_Gln80del)
|
rs3032358
|
|
|
NM_000044.6(AR):c.171GCA[18] (p.Gln76_Gln80del)
|
rs3032358
|
|
|
NM_000044.6(AR):c.171GCA[32] (p.Gln72_Gln80dup)
|
rs3032358
|
|
|
NM_000044.6(AR):c.171GCA[35] (p.Gln69_Gln80dup)
|
rs3032358
|
|
|
NM_000046.5(ARSB):c.113_121del (p.Gly38_Gly40del)
|
rs550086186
|
|
|
NM_000048.4(ASL):c.656-3dup
|
rs778811159
|
|
|
NM_000051.4(ATM):c.2805G>A (p.Thr935=)
|
rs55934812
|
|
|
NM_000051.4(ATM):c.66A>G (p.Glu22=)
|
rs1185359350
|
|
|
NM_000051.4(ATM):c.6975+13dup
|
rs763287238
|
|
|
NM_000051.4(ATM):c.8786+16T>C
|
rs1057521277
|
|
|
NM_000053.4(ATP7B):c.186C>T (p.Val62=)
|
rs1187762934
|
|
|
NM_000053.4(ATP7B):c.1965G>A (p.Leu655=)
|
rs574041847
|
|
|
NM_000053.4(ATP7B):c.3615T>C (p.Ala1205=)
|
rs755324767
|
|
|
NM_000053.4(ATP7B):c.4287G>A (p.Ser1429=)
|
rs747816425
|
|
|
NM_000053.4(ATP7B):c.483T>C (p.Ile161=)
|
rs2140100275
|
|
|
NM_000059.4(BRCA2):c.10094_10095insGAATTATATC (p.Ser3366fs)
|
rs1064792995
|
|
|
NM_000059.4(BRCA2):c.5025T>C (p.Cys1675=)
|
rs370591460
|
|
|
NM_000059.4(BRCA2):c.5661G>A (p.Thr1887=)
|
rs80359793
|
|
|
NM_000059.4(BRCA2):c.6030C>A (p.Val2010=)
|
rs786201328
|
|
|
NM_000059.4(BRCA2):c.68-7dup
|
rs276174878
|
|
|
NM_000063.6(C2):c.1567+22_1567+43del
|
rs541057516
|
|
|
NM_000064.4(C3):c.1920C>T (p.Ser640=)
|
rs139693406
|
|
|
NM_000064.4(C3):c.4547-16C>G
|
rs1414347444
|
|
|
NM_000064.4(C3):c.4645C>A (p.Leu1549Met)
|
rs149202905
|
|
|
NM_000064.4(C3):c.683-4C>G
|
rs377240996
|
|
|
NM_000064.4(C3):c.975C>T (p.Tyr325=)
|
rs1301665029
|
|
|
NM_000066.4(C8B):c.1355G>C (p.Trp452Ser)
|
rs200077558
|
|
|
NM_000069.3(CACNA1S):c.2746-16G>A
|
rs531717137
|
|
|
NM_000069.3(CACNA1S):c.2979C>T (p.Ser993=)
|
rs146497999
|
|
|
NM_000069.3(CACNA1S):c.3861+14G>T
|
rs200654730
|
|
|
NM_000069.3(CACNA1S):c.394C>A (p.Leu132Met)
|
rs377030324
|
|
|
NM_000069.3(CACNA1S):c.3953+14G>A
|
rs201077181
|
|
|
NM_000069.3(CACNA1S):c.4113+7_4113+8inv
|
|
|
|
NM_000069.3(CACNA1S):c.429C>T (p.Asn143=)
|
rs553580116
|
|
|
NM_000069.3(CACNA1S):c.5394C>A (p.Gly1798=)
|
rs1558047794
|
|
|
NM_000069.3(CACNA1S):c.542-9C>T
|
rs767627454
|
|
|
NM_000080.4(CHRNE):c.1402G>C (p.Val468Leu)
|
rs139171143
|
|
|
NM_000081.4(LYST):c.2363+7A>T
|
|
|
|
NM_000081.4(LYST):c.5461-3del
|
rs557545474
|
|
|
NM_000081.4(LYST):c.7461-11_7461-9del
|
rs777633676
|
|
|
NM_000082.4(ERCC8):c.390T>C (p.Asn130=)
|
rs367632666
|
|
|
NM_000085.5(CLCNKB):c.641_642delinsGC (p.Ala214Gly)
|
rs71493533
|
|
|
NM_000085.5(CLCNKB):c.840T>G (p.Pro280=)
|
rs1570335636
|
|
|
NM_000088.4(COL1A1):c.1056+12dup
|
rs766175536
|
|
|
NM_000091.5(COL4A3):c.1311G>C (p.Pro437=)
|
rs369557944
|
|
|
NM_000091.5(COL4A3):c.222G>A (p.Pro74=)
|
rs187950806
|
|
|
NM_000091.5(COL4A3):c.2375-18T>C
|
rs1449018778
|
|
|
NM_000091.5(COL4A3):c.2746+9T>C
|
rs367574148
|
|
|
NM_000091.5(COL4A3):c.280-10_280-9del
|
rs768505729
|
|
|
NM_000091.5(COL4A3):c.3211-7A>G
|
rs2106226162
|
|
|
NM_000091.5(COL4A3):c.3756G>A (p.Ala1252=)
|
rs112516617
|
|
|
NM_000091.5(COL4A3):c.384T>C (p.Ser128=)
|
rs2125910138
|
|
|
NM_000091.5(COL4A3):c.4028-15T>C
|
rs764478470
|
|
|
NM_000091.5(COL4A3):c.43_54del (p.Pro15_Leu18del)
|
rs570469692
|
|
|
NM_000091.5(COL4A3):c.766-7T>C
|
rs777532605
|
|
|
NM_000092.5(COL4A4):c.1176C>T (p.Leu392=)
|
rs759536932
|
|
|
NM_000092.5(COL4A4):c.1370-17C>A
|
rs369350196
|
|
|
NM_000092.5(COL4A4):c.1459+16dup
|
rs763434195
|
|
|
NM_000092.5(COL4A4):c.1987+15dup
|
rs754189803
|
|
|
NM_000092.5(COL4A4):c.2164+15_2164+16insTTTG
|
|
|
|
NM_000092.5(COL4A4):c.2164+19_2164+20insTTTTG
|
rs749658792
|
|
|
NM_000092.5(COL4A4):c.297T>A (p.Pro99=)
|
rs1576662029
|
|
|
NM_000092.5(COL4A4):c.3018A>T (p.Arg1006Ser)
|
rs531161419
|
|
|
NM_000092.5(COL4A4):c.3306C>G (p.Ser1102=)
|
rs200065408
|
|
|
NM_000092.5(COL4A4):c.3306C>T (p.Ser1102=)
|
rs200065408
|
|
|
NM_000092.5(COL4A4):c.3570T>A (p.Gly1190=)
|
rs1575931307
|
|
|
NM_000092.5(COL4A4):c.4278T>C (p.Pro1426=)
|
rs2149764265
|
|
|
NM_000093.5(COL5A1):c.2800-18C>T
|
rs73664144
|
|
|
NM_000094.4(COL7A1):c.1215C>T (p.Pro405=)
|
rs200882719
|
|
|
NM_000094.4(COL7A1):c.7191C>A (p.Pro2397=)
|
rs34360255
|
|
|
NM_000098.3(CPT2):c.1080C>T (p.Ile360=)
|
rs749833236
|
|
|
NM_000098.3(CPT2):c.1509C>T (p.Arg503=)
|
rs1572385867
|
|
|
NM_000098.3(CPT2):c.15G>C (p.Leu5=)
|
rs1443908294
|
|
|
NM_000098.3(CPT2):c.1645+14G>T
|
rs2100274977
|
|
|
NM_000102.4(CYP17A1):c.180T>C (p.Tyr60=)
|
rs61754264
|
|
|
NM_000102.4(CYP17A1):c.186C>T (p.Pro62=)
|
rs1844174531
|
|
|
NM_000102.4(CYP17A1):c.315G>A (p.Ala105=)
|
rs150698224
|
|
|
NM_000135.4(FANCA):c.1290G>A (p.Ala430=)
|
rs1800332
|
|
|
NM_000135.4(FANCA):c.1290G>T (p.Ala430=)
|
rs1800332
|
|
|
NM_000135.4(FANCA):c.1360-4A>G
|
rs746911316
|
|
|
NM_000135.4(FANCA):c.1755C>T (p.Pro585=)
|
rs144704750
|
|
|
NM_000135.4(FANCA):c.2015-4G>A
|
rs373954227
|
|
|
NM_000135.4(FANCA):c.2127G>A (p.Pro709=)
|
rs771226546
|
|
|
NM_000135.4(FANCA):c.2151+7G>A
|
rs2039330078
|
|
|
NM_000135.4(FANCA):c.2286C>T (p.Leu762=)
|
rs1419118181
|
|
|
NM_000135.4(FANCA):c.2496C>T (p.Phe832=)
|
rs2039260982
|
|
|
NM_000135.4(FANCA):c.2504+12_2504+14del
|
rs1023581563
|
|
|
NM_000135.4(FANCA):c.2602-18G>C
|
rs774316884
|
|
|
NM_000135.4(FANCA):c.2602-19G>C
|
rs17233225
|
|
|
NM_000135.4(FANCA):c.2779-5C>G
|
rs753286882
|
|
|
NM_000135.4(FANCA):c.2853-4C>A
|
rs1289126600
|
|
|
NM_000135.4(FANCA):c.3144C>T (p.Leu1048=)
|
rs1302242291
|
|
|
NM_000135.4(FANCA):c.3239+11C>G
|
rs200232122
|
|
|
NM_000135.4(FANCA):c.3409-18C>T
|
rs762166434
|
|
|
NM_000135.4(FANCA):c.3630C>T (p.Phe1210=)
|
rs776001484
|
|
|
NM_000135.4(FANCA):c.3822C>A (p.Thr1274=)
|
rs1382340096
|
|
|
NM_000135.4(FANCA):c.523-37TTGTTT[2]
|
rs530849202
|
|
|
NM_000135.4(FANCA):c.558C>T (p.His186=)
|
rs149159377
|
|
|
NM_000135.4(FANCA):c.710-20_710-19del
|
rs2040524550
|
|
|
NM_000135.4(FANCA):c.924C>A (p.Gly308=)
|
rs143255238
|
|
|
NM_000136.3(FANCC):c.1485G>A (p.Leu495=)
|
rs56082100
|
|
|
NM_000136.3(FANCC):c.1503C>T (p.Gly501=)
|
rs2134454633
|
|
|
NM_000136.3(FANCC):c.843+12G>A
|
rs2135164340
|
|
|
NM_000136.3(FANCC):c.896+14T>C
|
rs2134966492
|
|
|
NM_000138.5(FBN1):c.5031C>T (p.Asp1677=)
|
rs1597545860
|
|
|
NM_000138.5(FBN1):c.5066-12C>T
|
rs531105331
|
|
|
NM_000138.5(FBN1):c.7236T>C (p.Val2412=)
|
rs1306021418
|
|
|
NM_000141.5(FGFR2):c.1356T>A (p.Ser452=)
|
rs2134060289
|
|
|
NM_000141.5(FGFR2):c.1746C>T (p.Pro582=)
|
rs369850306
|
|
|
NM_000141.5(FGFR2):c.1987-20A>T
|
rs772633227
|
|
|
NM_000141.5(FGFR2):c.390C>G (p.Ser130=)
|
rs1029635273
|
|
|
NM_000143.4(FH):c.1237-13_1237-12insCTCTCTCTCTCA
|
|
|
|
NM_000143.4(FH):c.1237-50TC[27]
|
rs144131869
|
|
|
NM_000151.4(G6PC1):c.954C>T (p.Val318=)
|
rs372612424
|
|
|
NM_000152.5(GAA):c.138C>G (p.Ser46=)
|
rs753375900
|
|
|
NM_000152.5(GAA):c.1437+15C>T
|
rs2143867420
|
|
|
NM_000152.5(GAA):c.1637-10C>T
|
rs2143881993
|
|
|
NM_000152.5(GAA):c.1941C>T (p.Cys647=)
|
rs776948121
|
|
|
NM_000152.5(GAA):c.2043C>A (p.Pro681=)
|
rs764174168
|
|
|
NM_000152.5(GAA):c.2289G>A (p.Val763=)
|
rs767871949
|
|
|
NM_000152.5(GAA):c.858+8_858+10delinsAGCGGGCGGT
|
rs1555599729
|
|
|
NM_000157.4(GBA1):c.*92G>A
|
|
|
|
NM_000162.5(GCK):c.579+12C>G
|
rs202001955
|
|
|
NM_000168.6(GLI3):c.1029-22dup
|
rs559579130
|
|
|
NM_000168.6(GLI3):c.1357-9T>A
|
rs1583801330
|
|
|
NM_000168.6(GLI3):c.3083_3084delinsTT (p.Ser1028Ile)
|
rs886043721
|
|
|
NM_000170.3(GLDC):c.210T>C (p.Pro70=)
|
rs1170354400
|
|
|
NM_000179.3(MSH6):c.3228C>T (p.Arg1076=)
|
rs786203698
|
|
|
NM_000179.3(MSH6):c.3557-4dup
|
rs267608102
|
|
|
NM_000179.3(MSH6):c.4001+2TAAC[2]
|
rs267608132
|
|
|
NM_000179.3(MSH6):c.4001+2TAAC[4]
|
rs267608132
|
|
|
NM_000181.4(GUSB):c.57C>T (p.Cys19=)
|
rs573989102
|
|
|
NM_000182.5(HADHA):c.157C>A (p.Arg53=)
|
rs147103714
|
|
|
NM_000186.4(CFH):c.1935G>A (p.Thr645=)
|
rs56035657
|
|
|
NM_000186.4(CFH):c.245-9del
|
rs35507625
|
|
|
NM_000186.4(CFH):c.245-9dup
|
rs35507625
|
|
|
NM_000186.4(CFH):c.318T>C (p.Tyr106=)
|
rs1448752091
|
|
|
NM_000186.4(CFH):c.350+15C>T
|
rs190197472
|
|
|
NM_000187.4(HGD):c.283-5del
|
rs777429123
|
|
|
NM_000187.4(HGD):c.343-6T>A
|
rs753344566
|
|
|
NM_000194.3(HPRT1):c.319-8_319-7dup
|
rs371480320
|
|
|
NM_000195.5(HPS1):c.1239G>A (p.Pro413=)
|
rs777125097
|
|
|
NM_000195.5(HPS1):c.1533-17C>T
|
rs187227619
|
|
|
NM_000195.5(HPS1):c.198G>C (p.Ser66=)
|
rs115265574
|
|
|
NM_000195.5(HPS1):c.678_680delinsTGT (p.Ser227Val)
|
rs1554892764
|
|
|
NM_000196.4(HSD11B2):c.664+16dup
|
rs72650121
|
|
|
NM_000198.4(HSD3B2):c.1014G>A (p.Ala338=)
|
rs116342586
|
|
|
NM_000198.4(HSD3B2):c.51G>A (p.Arg17=)
|
rs757957605
|
|
|
NM_000198.4(HSD3B2):c.624T>C (p.Asn208=)
|
rs1040579140
|
|
|
NM_000204.5(CFI):c.192G>C (p.Pro64=)
|
rs571265769
|
|
|
NM_000204.5(CFI):c.329-14dup
|
rs754551276
|
|
|
NM_000207.3(INS):c.67G>A (p.Ala23Thr)
|
rs13306444
|
|
|
NM_000208.4(INSR):c.653-9_653-7delinsC
|
rs1568470641
|
|
|
NM_000209.4(PDX1):c.312C>T (p.Ala104=)
|
rs535722487
|
|
|
NM_000210.4(ITGA6):c.2679+7C>T
|
rs373610682
|
|
|
NM_000213.5(ITGB4):c.3885C>T (p.Arg1295=)
|
rs375483568
|
|
|
NM_000214.3(JAG1):c.120G>C (p.Leu40=)
|
rs1000010346
|
|
|
NM_000214.3(JAG1):c.1349-19_1349-17del
|
rs756384545
|
|
|
NM_000214.3(JAG1):c.1396-27TC[6]
|
rs544547916
|
|
|
NM_000214.3(JAG1):c.1720+16dup
|
rs774418829
|
|
|
NM_000214.3(JAG1):c.2228-13T>G
|
rs1163165774
|
|
|
NM_000214.3(JAG1):c.2344+17del
|
rs774508190
|
|
|
NM_000214.3(JAG1):c.2916+17G>A
|
rs767489867
|
|
|
NM_000214.3(JAG1):c.493C>T (p.Arg165Trp)
|
rs749293754
|
|
|
NM_000214.3(JAG1):c.694+4TG[8]
|
rs112693360
|
|
|
NM_000217.3(KCNA1):c.297C>T (p.Gly99=)
|
rs772182513
|
|
|
NM_000217.3(KCNA1):c.435C>T (p.Pro145=)
|
rs761301513
|
|
|
NM_000219.6(KCNE1):c.111_112inv (p.Ser38Gly)
|
|
|
|
NM_000229.2(LCAT):c.340G>A (p.Val114Met)
|
rs35673026
|
|
|
NM_000229.2(LCAT):c.694T>A (p.Ser232Thr)
|
rs4986970
|
|
|
NM_000238.4(KCNH2):c.1500C>A (p.Ile500=)
|
rs147126965
|
|
|
NM_000238.4(KCNH2):c.3331-13GT[2]
|
rs41313749
|
|
|
NM_000243.3(MEFV):c.1092G>A (p.Pro364=)
|
rs11466022
|
|
|
NM_000243.3(MEFV):c.1759+11C>T
|
rs370349451
|
|
|
NM_000243.3(MEFV):c.2271C>T (p.Ser757=)
|
rs772754956
|
|
|
NM_000243.3(MEFV):c.342G>A (p.Lys114=)
|
rs981883034
|
|
|
NM_000243.3(MEFV):c.414A>G (p.Gly138=)
|
rs224224
|
|
|
NM_000243.3(MEFV):c.414A>T (p.Gly138=)
|
rs224224
|
|
|
NM_000243.3(MEFV):c.933G>A (p.Ala311=)
|
rs774547197
|
|
|
NM_000249.4(MLH1):c.1852_1853delinsGC (p.Lys618Ala)
|
rs35502531
|
|
|
NM_000249.4(MLH1):c.1853A>C (p.Lys618Thr)
|
rs63750449
|
|
|
NM_000249.4(MLH1):c.1990-17G>C
|
rs1057521535
|
|
|
NM_000251.3(MSH2):c.273TCT[2] (p.Leu94del)
|
rs267607919
|
|
|
NM_000255.4(MMUT):c.754-7del
|
rs750770186
|
|
|
NM_000256.3(MYBPC3):c.1521G>A (p.Gly507=)
|
rs1235816440
|
|
|
NM_000256.3(MYBPC3):c.1578A>G (p.Ala526=)
|
rs766721220
|
|
|
NM_000256.3(MYBPC3):c.1624+13G>A
|
rs397515913
|
|
|
NM_000256.3(MYBPC3):c.2784G>A (p.Ser928=)
|
rs372510974
|
|
|
NM_000256.3(MYBPC3):c.372C>A (p.Ala124=)
|
rs11570046
|
|
|
NM_000256.3(MYBPC3):c.450C>G (p.Pro150=)
|
rs377520770
|
|
|
NM_000257.4(MYH7):c.3177G>T (p.Leu1059=)
|
rs746453011
|
|
|
NM_000257.4(MYH7):c.3237G>C (p.Arg1079=)
|
rs1272236852
|
|
|
NM_000257.4(MYH7):c.3324C>T (p.Leu1108=)
|
rs933857323
|
|
|
NM_000257.4(MYH7):c.3942C>T (p.Asp1314=)
|
rs921429381
|
|
|
NM_000257.4(MYH7):c.396G>T (p.Pro132=)
|
rs138932714
|
|
|
NM_000257.4(MYH7):c.4188G>T (p.Arg1396=)
|
rs200852418
|
|
|
NM_000257.4(MYH7):c.4251C>G (p.Thr1417=)
|
rs763934978
|
|
|
NM_000257.4(MYH7):c.4953+13A>T
|
rs373509029
|
|
|
NM_000257.4(MYH7):c.5533C>A (p.Arg1845=)
|
rs28933098
|
|
|
NM_000261.2(MYOC):c.612G>T (p.Thr204=)
|
rs57824969
|
|
|
NM_000271.5(NPC1):c.1947+13G>C
|
rs568769965
|
|
|
NM_000276.4(OCRL):c.200-11dup
|
rs765652296
|
|
|
NM_000278.5(PAX2):c.240G>A (p.Pro80=)
|
rs576772135
|
|
|
NM_000291.4(PGK1):c.937-17dup
|
rs782576397
|
|
|
NM_000297.4(PKD2):c.1146C>A (p.Ile382=)
|
rs1351905972
|
|
|
NM_000297.4(PKD2):c.1617G>A (p.Leu539=)
|
rs145297759
|
|
|
NM_000297.4(PKD2):c.290AGG[7] (p.Glu102dup)
|
rs750077647
|
|
|
NM_000303.3(PMM2):c.256-7C>T
|
rs561075568
|
|
|
NM_000303.3(PMM2):c.348-5C>A
|
rs746660218
|
|
|
NM_000308.4(CTSA):c.33GCT[6] (p.Leu18_Leu19del)
|
rs72555383
|
|
|
NM_000311.3(PRNP):c.204_227del24 (p.Pro84_Gln91del)
|
rs193922906
|
|
|
NM_000314.8(PTEN):c.802-4_802-3dup
|
rs34003473
|
|
|
NM_000316.3(PTH1R):c.638+12G>A
|
rs375241177
|
|
|
NM_000316.3(PTH1R):c.638+12G>C
|
rs375241177
|
|
|
NM_000316.3(PTH1R):c.771C>A (p.Thr257=)
|
rs201016660
|
|
|
NM_000321.3(RB1):c.485T>A (p.Phe162Tyr)
|
rs764881599
|
|
|
NM_000322.5(PRPH2):c.483C>T (p.Ile161=)
|
rs76989855
|
|
|
NM_000329.3(RPE65):c.1450+13A>C
|
rs371783875
|
|
|
NM_000334.4(SCN4A):c.1845+18A>T
|
rs775429476
|
|
|
NM_000334.4(SCN4A):c.2451C>A (p.Gly817=)
|
rs754110462
|
|
|
NM_000334.4(SCN4A):c.2913G>A (p.Lys971=)
|
rs530640921
|
|
|
NM_000334.4(SCN4A):c.3789G>T (p.Pro1263=)
|
rs574892874
|
|
|
NM_000334.4(SCN4A):c.393-6C>A
|
rs373185863
|
|
|
NM_000334.4(SCN4A):c.448A>C (p.Met150Leu)
|
rs543502873
|
|
|
NM_000334.4(SCN4A):c.483-4C>G
|
rs200062384
|
|
|
NM_000334.4(SCN4A):c.5218C>A (p.Arg1740=)
|
rs373804267
|
|
|
NM_000334.4(SCN4A):c.5448C>G (p.Ala1816=)
|
rs754357879
|
|
|
NM_000335.5(SCN5A):c.168G>A (p.Leu56=)
|
rs376742447
|
|
|
NM_000335.5(SCN5A):c.795C>T (p.Ala265=)
|
rs527692731
|
|
|
NM_000341.4(SLC3A1):c.183C>T (p.Gly61=)
|
rs748832562
|
|
|
NM_000343.4(SLC5A1):c.1772-6G>A
|
rs201685531
|
|
|
NM_000343.4(SLC5A1):c.373-7del
|
rs778194598
|
|
|
NM_000343.4(SLC5A1):c.584-6G>A
|
rs200525887
|
|
|
NM_000345.4(SNCA):c.*77C>A
|
rs145304567
|
|
|
NM_000345.4(SNCA):c.243A>G (p.Thr81=)
|
rs568436589
|
|
|
NM_000349.3(STAR):c.158G>T (p.Arg53Leu)
|
rs529036391
|
|
|
NM_000349.3(STAR):c.720G>C (p.Thr240=)
|
rs768179486
|
|
|
NM_000352.6(ABCC8):c.2319G>C (p.Ser773=)
|
rs766321878
|
|
|
NM_000352.6(ABCC8):c.3414G>A (p.Thr1138=)
|
rs762412267
|
|
|
NM_000352.6(ABCC8):c.3765T>A (p.Gly1255=)
|
rs775699878
|
|
|
NM_000352.6(ABCC8):c.413-5G>C
|
rs186946111
|
|
|
NM_000352.6(ABCC8):c.4152G>A (p.Lys1384=)
|
rs1250433233
|
|
|
NM_000352.6(ABCC8):c.4434G>A (p.Gly1478=)
|
rs1953794808
|
|
|
NM_000352.6(ABCC8):c.795G>T (p.Arg265=)
|
rs1386314454
|
|
|
NM_000360.4(TH):c.978-6G>A
|
rs75487597
|
|
|
NM_000368.5(TSC1):c.1344T>C (p.Pro448=)
|
rs530908428
|
|
|
NM_000368.5(TSC1):c.1536C>T (p.Leu512=)
|
rs1264512400
|
|
|
NM_000368.5(TSC1):c.217T>C (p.Leu73=)
|
rs2132239282
|
|
|
NM_000368.5(TSC1):c.2392-8_2392-7del
|
rs1554814696
|
|
|
NM_000368.5(TSC1):c.2626-4dup
|
rs5901000
|
|
|
NM_000368.5(TSC1):c.2626-6_2626-4del
|
rs5901000
|
|
|
NM_000368.5(TSC1):c.3363G>C (p.Leu1121=)
|
rs1060504857
|
|
|
NM_000368.5(TSC1):c.509-9C>G
|
rs1275897593
|
|
|
NM_000368.5(TSC1):c.585C>T (p.Tyr195=)
|
rs118203407
|
|
|
NM_000368.5(TSC1):c.915G>T (p.Gly305=)
|
rs397515293
|
|
|
NM_000371.4(TTR):c.-743A>T
|
rs3794885
|
|
|
NM_000371.4(TTR):c.141T>C (p.Asn47=)
|
rs1252826226
|
|
|
NM_000371.4(TTR):c.70-19G>A
|
rs548935944
|
|
|
NM_000371.4(TTR):c.70-7C>T
|
rs587780990
|
|
|
NM_000372.5(TYR):c.1036+13T>A
|
rs1377064834
|
|
|
NM_000377.3(WAS):c.470G>A (p.Arg157His)
|
rs369850591
|
|
|
NM_000377.3(WAS):c.498C>G (p.Ala166=)
|
rs2147264155
|
|
|
NM_000377.3(WAS):c.560-5dup
|
rs782563873
|
|
|
NM_000384.3(APOB):c.5742T>C (p.Asn1914=)
|
rs1374923668
|
|
|
NM_000388.4(CASR):c.1116C>T (p.Thr372=)
|
rs539867627
|
|
|
NM_000388.4(CASR):c.1164G>A (p.Ser388=)
|
rs200898785
|
|
|
NM_000388.4(CASR):c.2439C>T (p.Ile813=)
|
rs1228810304
|
|
|
NM_000388.4(CASR):c.3234A>G (p.Ser1078=)
|
rs556263764
|
|
|
NM_000388.4(CASR):c.493-12G>T
|
rs199514129
|
|
|
NM_000388.4(CASR):c.54T>G (p.Ser18=)
|
rs558522564
|
|
|
NM_000388.4(CASR):c.876C>T (p.Ile292=)
|
rs772232871
|
|
|
NM_000419.5(ITGA2B):c.891+12del
|
rs373578804
|
|
|
NM_000421.5(KRT10):c.49GGA[9] (p.Gly24dup)
|
rs148510452
|
|
|
NM_000422.3(KRT17):c.834+5G>A
|
rs190234778
|
|
|
NM_000431.4(MVK):c.1059G>A (p.Val353=)
|
rs2136257119
|
|
|
NM_000431.4(MVK):c.677+12G>A
|
rs539146613
|
|
|
NM_000431.4(MVK):c.780C>A (p.Ile260=)
|
rs34975996
|
|
|
NM_000433.4(NCF2):c.1183C>T (p.Arg395Trp)
|
rs13306575
|
|
|
NM_000435.3(NOTCH3):c.2410+15dup
|
rs747731340
|
|
|
NM_000444.6(PHEX):c.420A>G (p.Ser140=)
|
rs1158378032
|
|
|
NM_000444.6(PHEX):c.440C>T (p.Ala147Val)
|
rs749081778
|
|
|
NM_000444.6(PHEX):c.441G>A (p.Ala147=)
|
rs770726332
|
|
|
NM_000444.6(PHEX):c.653A>G (p.His218Arg)
|
rs774907553
|
|
|
NM_000455.5(STK11):c.486C>T (p.Asp162=)
|
rs1269329328
|
|
|
NM_000455.5(STK11):c.558C>T (p.Thr186=)
|
rs749563734
|
|
|
NM_000455.5(STK11):c.747C>T (p.Thr249=)
|
rs759546076
|
|
|
NM_000458.4(HNF1B):c.1474G>A (p.Gly492Ser)
|
|
|
|
NM_000458.4(HNF1B):c.544+14T>A
|
rs759120365
|
|
|
NM_000458.4(HNF1B):c.657C>T (p.Ser219=)
|
rs148713761
|
|
|
NM_000458.4(HNF1B):c.831G>A (p.Gly277=)
|
rs199797518
|
|
|
NM_000474.4(TWIST1):c.260_274dup (p.Ala87_Gly91dup)
|
rs760471055
|
|
|
NM_000478.6(ALPL):c.1189+11C>T
|
rs201272867
|
|
|
NM_000478.6(ALPL):c.1310-5C>T
|
rs755472353
|
|
|
NM_000478.6(ALPL):c.1419C>T (p.Gly473=)
|
rs373417343
|
|
|
NM_000478.6(ALPL):c.393C>T (p.Ser131=)
|
rs2148158625
|
|
|
NM_000484.4(APP):c.1458+18C>T
|
rs200083249
|
|
|
NM_000484.4(APP):c.2148C>T (p.Ile716=)
|
rs145564988
|
|
|
NM_000485.3(APRT):c.400+14C>T
|
rs373048958
|
|
|
NM_000486.6(AQP2):c.606+14C>T
|
rs138177134
|
|
|
NM_000497.4(CYP11B1):c.1266C>T (p.Arg422=)
|
rs4998902
|
|
|
NM_000497.4(CYP11B1):c.645C>T (p.Ser215=)
|
rs199525592
|
|
|
NM_000498.3(CYP11B2):c.1035G>C (p.Leu345=)
|
rs780878883
|
|
|
NM_000498.3(CYP11B2):c.1239_1240delinsCC (p.Ala414Pro)
|
rs2130324931
|
|
|
NM_000498.3(CYP11B2):c.144G>A (p.Arg48=)
|
rs1817673208
|
|
|
NM_000498.3(CYP11B2):c.799+10G>C
|
rs1254465968
|
|
|
NM_000498.3(CYP11B2):c.93C>T (p.Ala31=)
|
rs1817675047
|
|
|
NM_000503.6(EYA1):c.1140+11A>T
|
rs759981657
|
|
|
NM_000503.6(EYA1):c.1598-15A>G
|
rs372286227
|
|
|
NM_000515.5(GH1):c.456+19G>T
|
rs61735351
|
|
|
NM_000516.7(GNAS):c.432C>T (p.Pro144=)
|
rs11554266
|
|
|
NM_000516.7(GNAS):c.75G>A (p.Lys25=)
|
rs1326256762
|
|
|
NM_000518.5(HBB):c.402G>A (p.Val134=)
|
rs113082294
|
|
|
NM_000522.5(HOXA13):c.234T>A (p.Ala78=)
|
rs1308135144
|
|
|
NM_000522.5(HOXA13):c.360_377del (p.Ala128_Ala133del)
|
rs35861510
|
|
|
NM_000525.4(KCNJ11):c.66_67inv (p.Lys23Glu)
|
|
|
|
NM_000525.4(KCNJ11):c.99C>T (p.Ala33=)
|
rs1489389760
|
|
|
NM_000527.5(LDLR):c.1706-10G>A
|
|
|
|
NM_000527.5(LDLR):c.1869C>A (p.Ile623=)
|
rs765202964
|
|
|
NM_000527.5(LDLR):c.2389+9G>A
|
rs768455845
|
|
|
NM_000528.4(MAN2B1):c.935C>A (p.Thr312Asn)
|
rs1054487
|
|
|
NM_000535.7(PMS2):c.2043G>A (p.Gln681=)
|
rs876658953
|
|
|
NM_000537.4(REN):c.819-45TCTG[11]
|
rs3839003
|
|
|
NM_000540.3(RYR1):c.12013-18C>A
|
rs377516769
|
|
|
NM_000540.3(RYR1):c.12846C>T (p.Leu4282=)
|
rs1184700540
|
|
|
NM_000540.3(RYR1):c.13513G>C (p.Asp4505His)
|
rs150396398
|
|
|
NM_000540.3(RYR1):c.46-4G>A
|
rs201094741
|
|
|
NM_000540.3(RYR1):c.5460C>T (p.Arg1820=)
|
rs1193082244
|
|
|
NM_000540.3(RYR1):c.7584C>G (p.Pro2528=)
|
rs1465698
|
|
|
NM_000540.3(RYR1):c.897G>C (p.Val299=)
|
rs76854339
|
|
|
NM_000545.8(HNF1A):c.-167TGGGGGT[3]
|
rs538476099
|
|
|
NM_000545.8(HNF1A):c.1719_1720inv (p.Ser574Gly)
|
|
|
|
NM_000545.8(HNF1A):c.498C>T (p.Tyr166=)
|
rs1876675633
|
|
|
NM_000548.5(TSC2):c.1119+11G>C
|
rs1026151983
|
|
|
NM_000548.5(TSC2):c.1119+12dup
|
rs750078037
|
|
|
NM_000548.5(TSC2):c.1258-4A>G
|
rs2086763634
|
|
|
NM_000548.5(TSC2):c.1341G>T (p.Ala447=)
|
rs141609319
|
|
|
NM_000548.5(TSC2):c.1443+9C>G
|
rs2151173612
|
|
|
NM_000548.5(TSC2):c.1599+16C>A
|
rs45517181
|
|
|
NM_000548.5(TSC2):c.1717-20G>T
|
rs1555505006
|
|
|
NM_000548.5(TSC2):c.1869C>G (p.Ala623=)
|
rs111244727
|
|
|
NM_000548.5(TSC2):c.1869C>T (p.Ala623=)
|
rs111244727
|
|
|
NM_000548.5(TSC2):c.2220+12G>T
|
rs780039835
|
|
|
NM_000548.5(TSC2):c.2493G>A (p.Thr831=)
|
rs773645613
|
|
|
NM_000548.5(TSC2):c.2639+12C>T
|
rs1400051232
|
|
|
NM_000548.5(TSC2):c.2742+11G>A
|
rs1256570311
|
|
|
NM_000548.5(TSC2):c.2760C>T (p.Val920=)
|
rs149490538
|
|
|
NM_000548.5(TSC2):c.3126G>C (p.Pro1042=)
|
rs36078782
|
|
|
NM_000548.5(TSC2):c.3210G>T (p.Thr1070=)
|
rs539927192
|
|
|
NM_000548.5(TSC2):c.3281C>T (p.Ser1094Leu)
|
rs397514887
|
|
|
NM_000548.5(TSC2):c.3399G>A (p.Gly1133=)
|
rs2151455530
|
|
|
NM_000548.5(TSC2):c.3606C>T (p.Pro1202=)
|
rs772580979
|
|
|
NM_000548.5(TSC2):c.3733C>A (p.Arg1245=)
|
rs777489742
|
|
|
NM_000548.5(TSC2):c.3744C>G (p.Ala1248=)
|
rs45517307
|
|
|
NM_000548.5(TSC2):c.3855A>G (p.Gly1285=)
|
rs891262541
|
|
|
NM_000548.5(TSC2):c.3891C>G (p.Ala1297=)
|
rs373508609
|
|
|
NM_000548.5(TSC2):c.4107G>C (p.Arg1369=)
|
rs201688447
|
|
|
NM_000548.5(TSC2):c.444C>T (p.Asp148=)
|
rs767968378
|
|
|
NM_000548.5(TSC2):c.4493+16_4493+17delinsGT
|
rs2151539107
|
|
|
NM_000548.5(TSC2):c.4512C>G (p.Leu1504=)
|
rs771595886
|
|
|
NM_000548.5(TSC2):c.4570-13C>T
|
rs370549253
|
|
|
NM_000548.5(TSC2):c.4659C>G (p.Gly1553=)
|
rs202212109
|
|
|
NM_000548.5(TSC2):c.4663-11_4663-5del
|
rs760527750
|
|
|
NM_000548.5(TSC2):c.4716G>A (p.Thr1572=)
|
rs369346726
|
|
|
NM_000548.5(TSC2):c.5169A>G (p.Ser1723=)
|
rs1567131059
|
|
|
NM_000548.5(TSC2):c.600-18G>C
|
rs199683502
|
|
|
NM_000548.5(TSC2):c.648+11C>G
|
rs371896390
|
|
|
NM_000548.5(TSC2):c.726C>T (p.Thr242=)
|
rs570051626
|
|
|
NM_000548.5(TSC2):c.975+15G>A
|
rs753334357
|
|
|
NM_000548.5(TSC2):c.975+19G>T
|
rs909473730
|
|
|
NM_000551.4(VHL):c.-10C>T
|
rs1192379474
|
|
|
NM_000551.4(VHL):c.463+9G>A
|
rs1057522720
|
|
|
NM_000574.5(CD55):c.155G>T (p.Arg52Leu)
|
rs28371588
|
|
|
NM_000642.3(AGL):c.2565T>C (p.His855=)
|
rs1312742910
|
|
|
NM_000642.3(AGL):c.3260-14_3260-10dup
|
rs1653309500
|
|
|
NM_000690.4(ALDH2):c.731C>T (p.Thr244Met)
|
rs543030829
|
|
|
NM_000718.4(CACNA1B):c.3279C>T (p.Val1093=)
|
rs147270326
|
|
|
NM_000748.3(CHRNB2):c.1378C>G (p.Arg460Gly)
|
rs202079239
|
|
|
NM_000782.5(CYP24A1):c.114G>T (p.Pro38=)
|
rs61749689
|
|
|
NM_000782.5(CYP24A1):c.469C>A (p.Arg157=)
|
rs35873579
|
|
|
NM_000784.4(CYP27A1):c.506C>T (p.Ala169Val)
|
rs59443548
|
|
|
NM_000785.4(CYP27B1):c.386+14G>A
|
rs373607899
|
|
|
NM_000789.4(ACE):c.2518C>A (p.Arg840=)
|
rs3730036
|
|
|
NM_000824.5(GLRB):c.298-19G>T
|
rs371067472
|
|
|
NM_000824.5(GLRB):c.904+4A>T
|
rs76714257
|
|
|
NM_000843.4(GRM6):c.2054C>G (p.Ser685Trp)
|
rs144657366
|
|
|
NM_000843.4(GRM6):c.727G>T (p.Val243Phe)
|
rs17078894
|
|
|
NM_000875.5(IGF1R):c.-41_-33del
|
rs544674838
|
|
|
NM_000890.5(KCNJ5):c.810T>C (p.Leu270=)
|
rs7118824
|
|
|
NM_000890.5(KCNJ5):c.938-11_938-10delinsTA
|
rs2136003778
|
|
|
NM_000899.5(KITLG):c.130-11dup
|
rs11428619
|
|
|
NM_000944.5(PPP3CA):c.1156+20G>C
|
rs370212443
|
|
|
NM_000944.5(PPP3CA):c.1156+20G>T
|
rs370212443
|
|
|
NM_000944.5(PPP3CA):c.1339+13_1339+15dup
|
rs546166325
|
|
|
NM_000944.5(PPP3CA):c.955+18C>A
|
rs370681817
|
|
|
NM_000944.5(PPP3CA):c.955+18C>T
|
rs370681817
|
|
|
NM_000969.5(RPL5):c.3+11G>A
|
rs376414614
|
|
|
NM_000969.5(RPL5):c.426C>G (p.Phe142Leu)
|
rs11540836
|
|
|
NM_000969.5(RPL5):c.794+16_794+19del
|
rs747509136
|
|
|
NM_000969.5(RPL5):c.794+19dup
|
rs747509136
|
|
|
NM_000996.4(RPL35A):c.282T>C (p.Ala94=)
|
rs201018840
|
|
|
NM_001001430.3(TNNT2):c.68-1623_68-1621delinsTT
|
rs397516362
|
|
|
NM_001002294.3(FMO3):c.585G>C (p.Ser195=)
|
rs144283823
|
|
|
NM_001002295.2(GATA3):c.373_375dup (p.Gly125dup)
|
rs547425013
|
|
|
NM_001002295.2(GATA3):c.480C>T (p.Asp160=)
|
rs143627754
|
|
|
NM_001002295.2(GATA3):c.724G>A (p.Gly242Ser)
|
rs11567901
|
|
|
NM_001003841.3(SLC6A19):c.1431C>T (p.Ser477=)
|
rs755478742
|
|
|
NM_001003841.3(SLC6A19):c.1599G>A (p.Thr533=)
|
rs112479136
|
|
|
NM_001003841.3(SLC6A19):c.202+12G>A
|
rs369314798
|
|
|
NM_001004334.4(GPR179):c.6494C>A (p.Thr2165Lys)
|
rs114844749
|
|
|
NM_001006658.3(CR2):c.624C>G (p.Pro208=)
|
rs61759494
|
|
|
NM_001008212.2(OPTN):c.402C>A (p.Ala134=)
|
rs113955718
|
|
|
NM_001008388.5(CISD2):c.60G>C (p.Arg20=)
|
rs564095499
|
|
|
NM_001009944.3(PKD1):c.10578G>T (p.Leu3526=)
|
rs745763060
|
|
|
NM_001009944.3(PKD1):c.10619-13del
|
rs562614426
|
|
|
NM_001009944.3(PKD1):c.11316C>G (p.Ala3772=)
|
rs201085734
|
|
|
NM_001009944.3(PKD1):c.11538-4G>T
|
rs763279854
|
|
|
NM_001009944.3(PKD1):c.11916C>G (p.Arg3972=)
|
rs77634115
|
|
|
NM_001009944.3(PKD1):c.12835C>A (p.Arg4279=)
|
rs375443308
|
|
|
NM_001009944.3(PKD1):c.2967G>A (p.Ala989=)
|
rs1324429294
|
|
|
NM_001009944.3(PKD1):c.3101A>G (p.Asn1034Ser)
|
rs28681051
|
|
|
NM_001009944.3(PKD1):c.3480G>T (p.Thr1160=)
|
rs151026121
|
|
|
NM_001009944.3(PKD1):c.4136A>G (p.Glu1379Gly)
|
rs149210297
|
|
|
NM_001009944.3(PKD1):c.4452G>A (p.Pro1484=)
|
rs201988915
|
|
|
NM_001009944.3(PKD1):c.4524C>T (p.Leu1508=)
|
rs144200494
|
|
|
NM_001009944.3(PKD1):c.4684C>T (p.Leu1562=)
|
rs114489044
|
|
|
NM_001009944.3(PKD1):c.5037C>T (p.Ser1679=)
|
rs144091742
|
|
|
NM_001009944.3(PKD1):c.603C>G (p.His201Gln)
|
rs13334842
|
|
|
NM_001009944.3(PKD1):c.6219C>T (p.Thr2073=)
|
rs886038370
|
|
|
NM_001009944.3(PKD1):c.7992C>T (p.Ile2664=)
|
rs537012440
|
|
|
NM_001009944.3(PKD1):c.8442G>C (p.Gly2814=)
|
rs886038371
|
|
|
NM_001009944.3(PKD1):c.8672CCAACTCCG[3] (p.2891ANS[3])
|
rs763199524
|
|
|
NM_001009944.3(PKD1):c.9924-9_9924-7del
|
rs892390487
|
|
|
NM_001011.4(RPS7):c.-19+13C>T
|
rs530845583
|
|
|
NM_001013838.3(CARMIL2):c.1554C>G (p.Asp518Glu)
|
rs200219135
|
|
|
NM_001015880.2(PAPSS2):c.381+7_381+24dup
|
rs367885911
|
|
|
NM_001017989.3(OPA3):c.414G>A (p.Ala138=)
|
rs566450630
|
|
|
NM_001018113.3(FANCB):c.1105-26TATT[4]
|
rs398123537
|
|
|
NM_001018113.3(FANCB):c.1767A>G (p.Thr589=)
|
rs964099207
|
|
|
NM_001018113.3(FANCB):c.706G>A (p.Val236Met)
|
rs746389250
|
|
|
NM_001018115.3(FANCD2):c.1614A>G (p.Thr538=)
|
rs141824395
|
|
|
NM_001018115.3(FANCD2):c.1917C>A (p.Ile639=)
|
rs151224882
|
|
|
NM_001022.4(RPS19):c.75C>T (p.Ser25=)
|
rs370343297
|
|
|
NM_001023570.4(IQCB1):c.588-25dup
|
rs574290389
|
|
|
NM_001029.5(RPS26):c.181+19C>G
|
rs201040758
|
|
|
NM_001029.5(RPS26):c.3+7C>G
|
rs115750993
|
|
|
NM_001029.5(RPS26):c.3+9T>A
|
rs545595719
|
|
|
NM_001029883.3(PCARE):c.3058_3059delinsAG (p.Gln1020Arg)
|
rs796065322
|
|
|
NM_001032.5(RPS29):c.163-4del
|
rs373877728
|
|
|
NM_001032221.6(STXBP1):c.1548-18TC[3]
|
rs148316151
|
|
|
NM_001035.3(RYR2):c.14481C>A (p.Ile4827=)
|
rs114303476
|
|
|
NM_001035.3(RYR2):c.7343-9C>T
|
rs372778902
|
|
|
NM_001035.3(RYR2):c.9318T>G (p.Ser3106=)
|
rs2797436
|
|
|
NM_001038.6(SCNN1A):c.540_541delinsTT (p.Arg181Trp)
|
rs876657425
|
|
|
NM_001039.4(SCNN1G):c.819G>C (p.Thr273=)
|
rs201341816
|
|
|
NM_001039213.4(CEACAM16):c.95_96delinsTT (p.Ser32Ile)
|
rs1555771695
|
|
|
NM_001040167.2(LFNG):c.225C>A (p.Ser75=)
|
rs1047044671
|
|
|
NM_001040716.2(PC):c.1513+9C>A
|
rs45580638
|
|
|
NM_001041.4(SI):c.119-11dup
|
rs533057264
|
|
|
NM_001041.4(SI):c.1506T>G (p.Leu502=)
|
rs113511967
|
|
|
NM_001041.4(SI):c.2361A>C (p.Ile787=)
|
rs116791931
|
|
|
NM_001041.4(SI):c.2737-11del
|
rs11452619
|
|
|
NM_001041.4(SI):c.2737-12_2737-11del
|
rs11452619
|
|
|
NM_001041.4(SI):c.2737-17_2737-11del
|
rs11452619
|
|
|
NM_001041.4(SI):c.2737-23dup
|
rs11452619
|
|
|
NM_001041.4(SI):c.3423+10A>G
|
rs200899300
|
|
|
NM_001041.4(SI):c.3634-5del
|
rs750773954
|
|
|
NM_001041.4(SI):c.374-11del
|
rs11313475
|
|
|
NM_001041.4(SI):c.374-11dup
|
rs11313475
|
|
|
NM_001041.4(SI):c.4999G>A (p.Val1667Ile)
|
rs142018224
|
|
|
NM_001041.4(SI):c.5385G>A (p.Ser1795=)
|
rs759867192
|
|
|
NM_001042413.2(GLIS3):c.2473+13C>T
|
rs368773221
|
|
|
NM_001042413.2(GLIS3):c.2657-17C>T
|
rs746005781
|
|
|
NM_001042432.2(CLN3):c.223-8C>T
|
rs973448262
|
|
|
NM_001042492.3(NF1):c.1186-6C>T
|
rs200684215
|
|
|
NM_001042492.3(NF1):c.1509T>C (p.Asp503=)
|
rs1597698493
|
|
|
NM_001042492.3(NF1):c.2001+11_2001+13del
|
rs750468034
|
|
|
NM_001042492.3(NF1):c.2252-18G>C
|
rs754583248
|
|
|
NM_001042492.3(NF1):c.2586C>T (p.Thr862=)
|
rs1567848941
|
|
|
NM_001042492.3(NF1):c.2694G>A (p.Leu898=)
|
rs1060503923
|
|
|
NM_001042492.3(NF1):c.3375G>A (p.Ala1125=)
|
rs112589561
|
|
|
NM_001042492.3(NF1):c.3496+14A>G
|
rs2151434934
|
|
|
NM_001042492.3(NF1):c.3906T>C (p.Asp1302=)
|
rs549058591
|
|
|
NM_001042492.3(NF1):c.4074C>A (p.Pro1358=)
|
rs757398594
|
|
|
NM_001042492.3(NF1):c.4110+15A>G
|
rs1331795815
|
|
|
NM_001042492.3(NF1):c.4500T>C (p.Ser1500=)
|
rs775018971
|
|
|
NM_001042492.3(NF1):c.4872A>T (p.Ile1624=)
|
rs2151537601
|
|
|
NM_001042492.3(NF1):c.5813-12A>G
|
rs768741646
|
|
|
NM_001042492.3(NF1):c.6007-9_6007-7del
|
rs1274172088
|
|
|
NM_001042492.3(NF1):c.6120T>C (p.Ser2040=)
|
rs2069671357
|
|
|
NM_001042492.3(NF1):c.624G>A (p.Ala208=)
|
rs370184932
|
|
|
NM_001042492.3(NF1):c.6428-7C>G
|
rs1597843613
|
|
|
NM_001042492.3(NF1):c.7062+12_7062+13del
|
rs753202735
|
|
|
NM_001042492.3(NF1):c.731-16T>C
|
rs1227193781
|
|
|
NM_001042492.3(NF1):c.7899G>A (p.Glu2633=)
|
rs1597866857
|
|
|
NM_001042492.3(NF1):c.7971-8dup
|
rs564545012
|
|
|
NM_001042492.3(NF1):c.8406C>T (p.Ser2802=)
|
rs1597883029
|
|
|
NM_001042646.3(TRAK1):c.432C>T (p.Thr144=)
|
rs11544368
|
|
|
NM_001042681.2(RERE):c.3556AAGGAG[2] (p.1186KE[2])
|
rs147985313
|
|
|
NM_001042681.2(RERE):c.3570GGAGCG[4] (p.1192RE[6])
|
rs201570536
|
|
|
NM_001044.5(SLC6A3):c.1677G>A (p.Ala559=)
|
rs767241571
|
|
|
NM_001044385.3(TMEM237):c.80-18dup
|
rs747217784
|
|
|
NM_001046.3(SLC12A2):c.2107+11A>G
|
rs189093520
|
|
|
NM_001048174.2(MUTYH):c.606+21C>A
|
rs148552450
|
|
|
NM_001059.3(TACR3):c.1345G>A (p.Ala449Thr)
|
rs17033889
|
|
|
NM_001079.4(ZAP70):c.512A>G (p.Glu171Gly)
|
rs199631517
|
|
|
NM_001079802.2(FKTN):c.1044+17G>C
|
rs200801909
|
|
|
NM_001079866.2(BCS1L):c.460+11del
|
rs756708393
|
|
|
NM_001079872.2(CUL4B):c.847-10del
|
rs762094686
|
|
|
NM_001080449.3(DNA2):c.2430C>G (p.Phe810Leu)
|
rs73274785
|
|
|
NM_001080449.3(DNA2):c.720-4del
|
rs34191745
|
|
|
NM_001081.4(CUBN):c.4212C>T (p.Ser1404=)
|
rs544694254
|
|
|
NM_001081.4(CUBN):c.5911C>A (p.Pro1971Thr)
|
rs2356590
|
|
|
NM_001081550.2(THOC2):c.4338A>G (p.Pro1446=)
|
rs367878305
|
|
|
NM_001098.3(ACO2):c.1387G>T (p.Gly463Trp)
|
rs2006715
|
|
|
NM_001098484.3(SLC4A4):c.2241C>A (p.Gly747=)
|
rs145593845
|
|
|
NM_001098511.3(KIF2A):c.2044G>A (p.Ala682Thr)
|
rs61748225
|
|
|
NM_001099922.3(ALG13):c.2457+15_2457+17del
|
rs761459857
|
|
|
NM_001099922.3(ALG13):c.2754ACC[18] (p.Pro943_Pro945dup)
|
rs750710267
|
|
|
NM_001099922.3(ALG13):c.2796_2801del (p.Pro944_Pro945del)
|
rs1468160803
|
|
|
NM_001099922.3(ALG13):c.2797CCT[8] (p.Pro941_Pro945del)
|
rs56717389
|
|
|
NM_001099922.3(ALG13):c.2798_2799insACCACCTCC (p.Pro943_Pro945dup)
|
rs1569522034
|
|
|
NM_001099922.3(ALG13):c.3221A>G (p.Tyr1074Cys)
|
rs372990620
|
|
|
NM_001099922.3(ALG13):c.886-13T>C
|
rs2148043429
|
|
|
NM_001101.5(ACTB):c.-6-15C>G
|
rs375195937
|
|
|
NM_001101.5(ACTB):c.803-7C>T
|
rs780471227
|
|
|
NM_001101.5(ACTB):c.903C>T (p.Gly301=)
|
rs13447407
|
|
|
NM_001102564.3(IFT43):c.147+18dup
|
rs747593685
|
|
|
NM_001102564.3(IFT43):c.369-8del
|
rs536027245
|
|
|
NM_001103.4(ACTN2):c.1794G>C (p.Pro598=)
|
rs137890030
|
|
|
NM_001105206.3(LAMA4):c.1419C>T (p.Val473=)
|
rs782796474
|
|
|
NM_001105206.3(LAMA4):c.373G>T (p.Ala125Ser)
|
rs529185662
|
|
|
NM_001105206.3(LAMA4):c.730G>C (p.Gly244Arg)
|
rs147078770
|
|
|
NM_001105206.3(LAMA4):c.85G>C (p.Asp29His)
|
rs150662822
|
|
|
NM_001110354.2(ZP3):c.923+8_923+10del
|
rs58854734
|
|
|
NM_001110556.2(FLNA):c.3387C>T (p.Thr1129=)
|
rs372874251
|
|
|
NM_001110556.2(FLNA):c.7326T>C (p.Gly2442=)
|
rs1026564714
|
|
|
NM_001110792.2(MECP2):c.1241C>T (p.Pro414Leu)
|
rs61753014
|
|
|
NM_001110792.2(MECP2):c.6CGC[5] (p.Ala8del)
|
rs398123566
|
|
|
NM_001113378.2(FANCI):c.1263C>A (p.Leu421=)
|
rs376956791
|
|
|
NM_001113378.2(FANCI):c.1699-17del
|
rs746745862
|
|
|
NM_001113378.2(FANCI):c.3537+19C>G
|
rs2054711237
|
|
|
NM_001113378.2(FANCI):c.3645C>T (p.Tyr1215=)
|
rs760364969
|
|
|
NM_001113378.2(FANCI):c.3652-10A>T
|
rs202231175
|
|
|
NM_001113378.2(FANCI):c.3720+14A>G
|
rs200012909
|
|
|
NM_001113378.2(FANCI):c.822C>T (p.His274=)
|
rs2053064054
|
|
|
NM_001114753.3(ENG):c.1853-14GCTCCC[3]
|
rs373296026
|
|
|
NM_001114753.3(ENG):c.387G>A (p.Glu129=)
|
rs1588583668
|
|
|
NM_001122630.2(CDKN1C):c.567_596dup (p.186_187AP[15])
|
rs1064792990
|
|
|
NM_001122630.2(CDKN1C):c.587_616dup (p.186_187AP[15])
|
rs878853638
|
|
|
NM_001122630.2(CDKN1C):c.828G>C (p.Ser276=)
|
rs373252940
|
|
|
NM_001122955.4(BSCL2):c.405-21TCC[2]
|
rs768556778
|
|
|
NM_001122955.4(BSCL2):c.487-20A>T
|
rs115756273
|
|
|
NM_001123385.2(BCOR):c.2423_2424delinsAC (p.Leu808His)
|
rs1569155643
|
|
|
NM_001126108.2(SLC12A3):c.1176C>G (p.Thr392=)
|
rs117440321
|
|
|
NM_001126108.2(SLC12A3):c.1176C>T (p.Thr392=)
|
rs117440321
|
|
|
NM_001126108.2(SLC12A3):c.1568-5C>T
|
rs751475080
|
|
|
NM_001126108.2(SLC12A3):c.2781G>A (p.Glu927=)
|
rs2144766852
|
|
|
NM_001126108.2(SLC12A3):c.489G>C (p.Thr163=)
|
rs766590120
|
|
|
NM_001126108.2(SLC12A3):c.741+8C>G
|
rs200257610
|
|
|
NM_001126108.2(SLC12A3):c.792C>T (p.Ala264=)
|
|
|
|
NM_001127198.5(TMC6):c.704A>G (p.Lys235Arg)
|
rs80354176
|
|
|
NM_001127222.2(CACNA1A):c.3601AAG[1] (p.Lys1202del)
|
rs772989979
|
|
|
NM_001127222.2(CACNA1A):c.6937CAG[14] (p.Gln2325dup)
|
rs16054
|
|
|
NM_001127222.2(CACNA1A):c.6937CAG[15] (p.Gln2324_Gln2325dup)
|
rs16054
|
|
|
NM_001127671.2(LIFR):c.3288C>T (p.Asn1096=)
|
rs3729751
|
|
|
NM_001128178.3(NPHP1):c.1270-12C>T
|
rs772635725
|
|
|
NM_001128178.3(NPHP1):c.1530-4del
|
rs757295724
|
|
|
NM_001128178.3(NPHP1):c.859+8G>C
|
rs765856771
|
|
|
NM_001128840.3(CACNA1D):c.5767_5769del (p.Phe1923del)
|
rs72556363
|
|
|
NM_001130969.3(NSMF):c.1132-22_1132-15del
|
rs751029049
|
|
|
NM_001134363.3(RBM20):c.936G>T (p.Leu312=)
|
rs1283162002
|
|
|
NM_001134407.3(GRIN2A):c.422C>T (p.Thr141Met)
|
rs78631453
|
|
|
NM_001134831.2(AHI1):c.1516C>A (p.Arg506=)
|
rs371637724
|
|
|
NM_001134831.2(AHI1):c.2374-12del
|
rs766929085
|
|
|
NM_001134831.2(AHI1):c.406T>C (p.Leu136=)
|
rs1299907778
|
|
|
NM_001136191.3(KANK2):c.2502+15G>A
|
rs113611112
|
|
|
NM_001136193.2(FASTKD2):c.1427+20dup
|
rs371981683
|
|
|
NM_001136193.2(FASTKD2):c.2014-12_2014-11del
|
rs770341016
|
|
|
NM_001142459.2(ASB10):c.709C>G (p.Arg237Gly)
|
rs61735708
|
|
|
NM_001142800.2(EYS):c.3164+8dup
|
rs201012275
|
|
|
NM_001142864.4(PIEZO1):c.1179C>G (p.Ser393=)
|
rs780119372
|
|
|
NM_001142864.4(PIEZO1):c.2664+7del
|
rs556884023
|
|
|
NM_001144967.3(NEDD4L):c.2488-8dup
|
rs751368482
|
|
|
NM_001144967.3(NEDD4L):c.2488-9_2488-8del
|
rs751368482
|
|
|
NM_001144967.3(NEDD4L):c.349-3C>A
|
rs767138884
|
|
|
NM_001144967.3(NEDD4L):c.48+11C>G
|
rs751788981
|
|
|
NM_001144967.3(NEDD4L):c.48+14C>A
|
rs372316024
|
|
|
NM_001144967.3(NEDD4L):c.48+14C>T
|
rs372316024
|
|
|
NM_001148.6(ANK2):c.10362G>T (p.Arg3454Ser)
|
rs55726422
|
|
|
NM_001164277.2(SLC37A4):c.723C>T (p.Thr241=)
|
rs782547500
|
|
|
NM_001164508.2(NEB):c.14827-14CT[2]
|
rs536426422
|
|
|
NM_001165963.4(SCN1A):c.2415+9A>G
|
rs2105827142
|
|
|
NM_001165963.4(SCN1A):c.602+6_602+7dup
|
rs577627288
|
|
|
NM_001170535.3(ATAD3A):c.750+10C>A
|
rs569633380
|
|
|
NM_001171.6(ABCC6):c.1368C>T (p.Ile456=)
|
rs141309818
|
|
|
NM_001171.6(ABCC6):c.345+12T>C
|
rs759993107
|
|
|
NM_001171.6(ABCC6):c.3903C>T (p.Thr1301=)
|
rs201812902
|
|
|
NM_001171.6(ABCC6):c.473C>T (p.Ala158Val)
|
rs2606921
|
|
|
NM_001171155.2(PET100):c.139-11_139-9del
|
rs748611501
|
|
|
NM_001173467.3(SP7):c.-47-15del
|
rs886049660
|
|
|
NM_001174147.2(LMX1B):c.327-6C>T
|
rs572751023
|
|
|
NM_001174147.2(LMX1B):c.546C>T (p.Asp182=)
|
rs34434402
|
|
|
NM_001174147.2(LMX1B):c.723G>T (p.Ser241=)
|
rs368736494
|
|
|
NM_001174147.2(LMX1B):c.933G>T (p.Pro311=)
|
rs145052881
|
|
|
NM_001177316.2(SLC34A3):c.1326C>T (p.Ser442=)
|
rs144275345
|
|
|
NM_001177316.2(SLC34A3):c.1402C>A (p.Arg468=)
|
rs121918238
|
|
|
NM_001177316.2(SLC34A3):c.709G>A (p.Asp237Asn)
|
rs145877051
|
|
|
NM_001177316.2(SLC34A3):c.870C>A (p.Gly290=)
|
rs747540875
|
|
|
NM_001177316.2(SLC34A3):c.942G>C (p.Ala314=)
|
rs34664302
|
|
|
NM_001190787.3(MCIDAS):c.218-13_218-6dup
|
rs771063151
|
|
|
NM_001195248.2(APTX):c.484-13_484-12delinsTG
|
rs1064794547
|
|
|
NM_001197104.2(KMT2A):c.188CGG[4] (p.Ala67del)
|
rs781936420
|
|
|
NM_001204.7(BMPR2):c.1037C>A (p.Thr346Asn)
|
rs757926043
|
|
|
NM_001205293.3(CACNA1E):c.4882-6_4882-4del
|
rs560116244
|
|
|
NM_001206927.2(DNAH8):c.8747+4C>T
|
rs201261721
|
|
|
NM_001206999.2(CIT):c.2532-6del
|
rs34851548
|
|
|
NM_001232.4(CASQ2):c.738-11_738-5del
|
rs56889721
|
|
|
NM_001243133.2(NLRP3):c.1374C>T (p.His458=)
|
rs180177481
|
|
|
NM_001243133.2(NLRP3):c.195G>A (p.Ala65=)
|
rs201205620
|
|
|
NM_001243133.2(NLRP3):c.2172T>A (p.Thr724=)
|
rs201102829
|
|
|
NM_001243133.2(NLRP3):c.726G>T (p.Ala242=)
|
rs3806268
|
|
|
NM_001243279.3(ACSF3):c.667-9C>T
|
rs369865917
|
|
|
NM_001244008.2(KIF1A):c.204G>A (p.Ala68=)
|
rs141052770
|
|
|
NM_001256789.3(CACNA1F):c.1535G>A (p.Arg512His)
|
rs146847449
|
|
|
NM_001267550.2(TTN):c.100171+16_100171+17insA
|
rs2154137874
|
|
|
NM_001267550.2(TTN):c.107681-18dup
|
rs148707308
|
|
|
NM_001267550.2(TTN):c.11255-17_11255-16del
|
rs72647895
|
|
|
NM_001267550.2(TTN):c.12564C>T (p.Ala4188=)
|
rs547338168
|
|
|
NM_001267550.2(TTN):c.177C>T (p.Ser59=)
|
rs191057824
|
|
|
NM_001267550.2(TTN):c.18114T>C (p.Thr6038=)
|
rs1221916366
|
|
|
NM_001267550.2(TTN):c.21246C>T (p.Thr7082=)
|
rs1553913320
|
|
|
NM_001267550.2(TTN):c.2226C>T (p.Ser742=)
|
rs151025677
|
|
|
NM_001267550.2(TTN):c.25104C>T (p.Asp8368=)
|
rs369089044
|
|
|
NM_001267550.2(TTN):c.27429T>C (p.Val9143=)
|
rs753291492
|
|
|
NM_001267550.2(TTN):c.30683-19del
|
rs752002029
|
|
|
NM_001267550.2(TTN):c.30683-4_30683-3del
|
rs368277751
|
|
|
NM_001267550.2(TTN):c.33418+11del
|
rs779637808
|
|
|
NM_001267550.2(TTN):c.34708+8C>A
|
rs762808097
|
|
|
NM_001267550.2(TTN):c.34787-19del
|
rs749050618
|
|
|
NM_001267550.2(TTN):c.35025G>A (p.Val11675=)
|
rs1047010138
|
|
|
NM_001267550.2(TTN):c.36159G>C (p.Thr12053=)
|
rs773862719
|
|
|
NM_001267550.2(TTN):c.36949G>A (p.Ala12317Thr)
|
rs1405466072
|
|
|
NM_001267550.2(TTN):c.40057+10A>G
|
rs1576917346
|
|
|
NM_001267550.2(TTN):c.40634-15_40634-11del
|
rs375561641
|
|
|
NM_001267550.2(TTN):c.46170G>A (p.Pro15390=)
|
rs747163190
|
|
|
NM_001267550.2(TTN):c.4814+9G>C
|
rs768137657
|
|
|
NM_001267550.2(TTN):c.51570T>G (p.Gly17190=)
|
rs876657607
|
|
|
NM_001267550.2(TTN):c.60490G>C (p.Val20164Leu)
|
rs72646843
|
|
|
NM_001267550.2(TTN):c.60576A>C (p.Ser20192=)
|
rs778528252
|
|
|
NM_001267550.2(TTN):c.61098C>T (p.Cys20366=)
|
rs755233818
|
|
|
NM_001267550.2(TTN):c.66054G>A (p.Glu22018=)
|
rs727503579
|
|
|
NM_001267550.2(TTN):c.66528T>G (p.Ser22176=)
|
rs1553626322
|
|
|
NM_001267550.2(TTN):c.66624A>G (p.Leu22208=)
|
rs2047769242
|
|
|
NM_001267550.2(TTN):c.68235T>C (p.Asp22745=)
|
rs757244505
|
|
|
NM_001267550.2(TTN):c.70377T>C (p.Pro23459=)
|
rs768458635
|
|
|
NM_001267550.2(TTN):c.72645T>G (p.Leu24215=)
|
rs1218286270
|
|
|
NM_001267550.2(TTN):c.91271-20C>A
|
rs1461887959
|
|
|
NM_001267550.2(TTN):c.93663C>T (p.Thr31221=)
|
rs1489398531
|
|
|
NM_001267550.2(TTN):c.93939C>T (p.Thr31313=)
|
rs771653811
|
|
|
NM_001271.4(CHD2):c.3126C>T (p.Asp1042=)
|
rs150268140
|
|
|
NM_001276345.2(TNNT2):c.321G>A (p.Lys107=)
|
rs397516459
|
|
|
NM_001277115.2(DNAH11):c.13113G>C (p.Pro4371=)
|
rs148707462
|
|
|
NM_001277115.2(DNAH11):c.4125C>A (p.Arg1375=)
|
rs570983771
|
|
|
NM_001278064.2(GRM1):c.2007G>T (p.Ala669=)
|
rs148926588
|
|
|
NM_001278064.2(GRM1):c.2364G>C (p.Ala788=)
|
rs114187147
|
|
|
NM_001282225.2(ADA2):c.1071C>T (p.Ala357=)
|
rs144447953
|
|
|
NM_001282225.2(ADA2):c.1081+16G>T
|
rs748240651
|
|
|
NM_001282225.2(ADA2):c.426G>T (p.Gly142=)
|
rs143138564
|
|
|
NM_001289104.2(PRKCSH):c.1338C>T (p.Leu446=)
|
rs540593191
|
|
|
NM_001289104.2(PRKCSH):c.1569G>T (p.Pro523=)
|
rs149505716
|
|
|
NM_001289808.2(CRYAB):c.324+13dup
|
rs782303631
|
|
|
NM_001303052.2(MYT1L):c.3033A>T (p.Gly1011=)
|
rs6728368
|
|
|
NM_001303052.2(MYT1L):c.468GGA[8] (p.Glu167dup)
|
rs148009982
|
|
|
NM_001318510.2(ACSL4):c.517-24dup
|
rs201395146
|
|
|
NM_001320198.2(KRT86):c.1053T>C (p.Ala351=)
|
rs28733260
|
|
|
NM_001320752.2(STS):c.259+8_259+10del
|
rs773065157
|
|
|
NM_001322934.2(NFKB2):c.*76C>T
|
|
|
|
NM_001348716.2(KDM6B):c.753ACC[15] (p.Pro263_Pro264dup)
|
rs61462443
|
|
|
NM_001349206.2(LPIN1):c.1807-18del
|
rs773751369
|
|
|
NM_001354930.2(RIPK1):c.1935G>A (p.Thr645=)
|
rs114183703
|
|
|
NM_001356.5(DDX3X):c.1171-8dup
|
rs747987697
|
|
|
NM_001358921.2(COQ2):c.542+12G>A
|
rs369421547
|
|
|
NM_001360.3(DHCR7):c.1098G>A (p.Gly366=)
|
rs2135939894
|
|
|
NM_001360.3(DHCR7):c.12A>G (p.Lys4=)
|
rs757934834
|
|
|
NM_001360.3(DHCR7):c.237T>C (p.His79=)
|
rs1316013264
|
|
|
NM_001360.3(DHCR7):c.304T>C (p.Leu102=)
|
rs1591113264
|
|
|
NM_001360.3(DHCR7):c.369C>T (p.Pro123=)
|
rs373452254
|
|
|
NM_001363.5(DKC1):c.1494GAA[8] (p.Lys505dup)
|
rs782576893
|
|
|
NM_001365088.1(SLC12A6):c.1650-7T>C
|
rs752125669
|
|
|
NM_001365276.2(TNXB):c.12156C>G (p.Arg4052=)
|
rs6457479
|
|
|
NM_001365276.2(TNXB):c.5442C>G (p.Asp1814Glu)
|
rs181025235
|
|
|
NM_001365536.1(SCN9A):c.2874+11_2874+13del
|
|
|
|
NM_001365999.1(SZT2):c.7874-16C>G
|
rs72883828
|
|
|
NM_001366110.1(PAX4):c.116G>T (p.Arg39Leu)
|
rs115887120
|
|
|
NM_001367624.2(ZNF469):c.10325G>C (p.Arg3442Thr)
|
rs199528724
|
|
|
NM_001367624.2(ZNF469):c.3714C>T (p.Ser1238=)
|
rs572061351
|
|
|
NM_001367624.2(ZNF469):c.7635C>T (p.Asp2545=)
|
rs781553869
|
|
|
NM_001367624.2(ZNF469):c.8625_8627delinsACG (p.His2876Arg)
|
rs386794006
|
|
|
NM_001368067.1(LDB3):c.849C>T (p.Ser283=)
|
rs1846156972
|
|
|
NM_001368809.2(AMPD2):c.2475A>G (p.Gln825=)
|
rs553448801
|
|
|
NM_001368894.2(PAX6):c.1221A>C (p.Ser407=)
|
rs1949622831
|
|
|
NM_001369.3(DNAH5):c.12033+7A>C
|
rs77541151
|
|
|
NM_001369.3(DNAH5):c.3873A>T (p.Ile1291=)
|
rs970611077
|
|
|
NM_001369.3(DNAH5):c.9721-8del
|
rs560450857
|
|
|
NM_001370100.5(ZMYND11):c.697+15_697+16insGTTTT
|
rs1554788985
|
|
|
NM_001370595.2(COA8):c.123+10G>A
|
rs751821020
|
|
|
NM_001370595.2(COA8):c.123+10G>C
|
rs751821020
|
|
|
NM_001371596.2(MFSD8):c.1351-9C>T
|
rs75039907
|
|
|
NM_001371928.1(AHDC1):c.3254CCT[8] (p.Ser1091dup)
|
rs530256606
|
|
|
NM_001371986.1(UNC80):c.7806-17AT[7]
|
rs752949976
|
|
|
NM_001372.4(DNAH9):c.10971+10_10971+12del
|
rs112708007
|
|
|
NM_001372066.1(TFAP2A):c.660C>T (p.Leu220=)
|
rs369302647
|
|
|
NM_001372066.1(TFAP2A):c.747G>A (p.Ser249=)
|
rs1372051364
|
|
|
NM_001374828.1(ARID1B):c.1170CGG[5] (p.Gly400_Gly402del)
|
rs587779747
|
|
|
NM_001374828.1(ARID1B):c.591GCA[6] (p.Gln214del)
|
rs587779743
|
|
|
NM_001374828.1(ARID1B):c.591GCA[9] (p.Gln213_Gln214dup)
|
rs587779743
|
|
|
NM_001376.5(DYNC1H1):c.13515+19dup
|
rs774180410
|
|
|
NM_001376.5(DYNC1H1):c.3015+18C>G
|
rs2749894
|
|
|
NM_001377.3(DYNC2H1):c.7540+14G>A
|
rs115273161
|
|
|
NM_001377142.1(PLCB4):c.2331G>C (p.Pro777=)
|
rs147575829
|
|
|
NM_001378183.1(PIEZO2):c.2170-18del
|
rs11468237
|
|
|
NM_001378328.1(CELSR1):c.7554C>A (p.Phe2518Leu)
|
rs116079347
|
|
|
NM_001378452.1(ITPR1):c.3705C>T (p.Ala1235=)
|
rs34635052
|
|
|
NM_001378454.1(ALMS1):c.10683T>C (p.Asp3561=)
|
rs1357578376
|
|
|
NM_001378454.1(ALMS1):c.11117C>G (p.Ser3706Cys)
|
rs533965968
|
|
|
NM_001378454.1(ALMS1):c.11133T>C (p.Ile3711=)
|
rs1430075527
|
|
|
NM_001378454.1(ALMS1):c.11872+12A>G
|
rs193922691
|
|
|
NM_001378454.1(ALMS1):c.11872+9C>G
|
rs768886966
|
|
|
NM_001378454.1(ALMS1):c.12115-8dup
|
rs748193431
|
|
|
NM_001378454.1(ALMS1):c.12234A>C (p.Ala4078=)
|
rs374508659
|
|
|
NM_001378454.1(ALMS1):c.2223T>C (p.Thr741=)
|
rs2103774306
|
|
|
NM_001378454.1(ALMS1):c.3177G>A (p.Leu1059=)
|
rs766133181
|
|
|
NM_001378454.1(ALMS1):c.339C>T (p.Thr113=)
|
rs2103675459
|
|
|
NM_001378454.1(ALMS1):c.345T>C (p.His115=)
|
rs1572904510
|
|
|
NM_001378454.1(ALMS1):c.3675T>C (p.Ala1225=)
|
rs1671901472
|
|
|
NM_001378454.1(ALMS1):c.3825A>G (p.Thr1275=)
|
rs1553403752
|
|
|
NM_001378454.1(ALMS1):c.5208G>C (p.Leu1736=)
|
rs755418143
|
|
|
NM_001378454.1(ALMS1):c.765-15_765-12del
|
rs1432858141
|
|
|
NM_001378454.1(ALMS1):c.8244G>C (p.Gly2748=)
|
rs1488100564
|
|
|
NM_001378454.1(ALMS1):c.8454A>G (p.Thr2818=)
|
rs1041301597
|
|
|
NM_001378454.1(ALMS1):c.8469G>A (p.Glu2823=)
|
rs2103891896
|
|
|
NM_001378454.1(ALMS1):c.9210A>G (p.Ser3070=)
|
rs541511993
|
|
|
NM_001378457.1(DMXL2):c.7809-6del
|
rs746074258
|
|
|
NM_001378969.1(KCND3):c.1041G>A (p.Ser347=)
|
rs369361457
|
|
|
NM_001378969.1(KCND3):c.63G>C (p.Pro21=)
|
rs923682288
|
|
|
NM_001379081.2(FREM1):c.3517G>T (p.Ala1173Ser)
|
rs564039071
|
|
|
NM_001379081.2(FREM1):c.4563C>A (p.Ala1521=)
|
rs60091943
|
|
|
NM_001379081.2(FREM1):c.483C>T (p.Phe161=)
|
rs540878376
|
|
|
NM_001379081.2(FREM1):c.516C>T (p.Thr172=)
|
rs41265310
|
|
|
NM_001379081.2(FREM1):c.5316G>T (p.Ser1772=)
|
rs775863172
|
|
|
NM_001379081.2(FREM1):c.5335-11del
|
rs140882884
|
|
|
NM_001379286.1(ZNF423):c.2535C>T (p.Thr845=)
|
rs77996576
|
|
|
NM_001379500.1(COL18A1):c.2702TTC[1] (p.Leu902del)
|
rs371849586
|
|
|
NM_001379500.1(COL18A1):c.3495+14C>G
|
rs191291169
|
|
|
NM_001384140.1(PCDH15):c.4308GCC[7] (p.Pro1442_Pro1443dup)
|
rs559130985
|
|
|
NM_001384140.1(PCDH15):c.4672-1444_4672-1441dup
|
rs373720521
|
|
|
NM_001384474.1(LOXHD1):c.6050-7A>G
|
rs907689730
|
|
|
NM_001384479.1(AGT):c.906C>A
|
rs776504572
|
|
|
NM_001384732.1(CPLANE1):c.1311A>G (p.Ser437=)
|
rs761587080
|
|
|
NM_001384732.1(CPLANE1):c.1522-16dup
|
rs370335300
|
|
|
NM_001384732.1(CPLANE1):c.2746+15_2746+16del
|
rs751625561
|
|
|
NM_001384732.1(CPLANE1):c.2746+16dup
|
rs751625561
|
|
|
NM_001384732.1(CPLANE1):c.3673-8_3673-4del
|
rs1163206555
|
|
|
NM_001384732.1(CPLANE1):c.699T>C (p.His233=)
|
rs762115051
|
|
|
NM_001384732.1(CPLANE1):c.8011+12del
|
rs774770884
|
|
|
NM_001384732.1(CPLANE1):c.8374-13G>T
|
rs771664716
|
|
|
NM_001388492.1(HTT):c.99_100del (p.Gln34fs)
|
|
|
|
NM_001395656.1(ROBO2):c.1596G>A (p.Pro532=)
|
rs779025170
|
|
|
NM_001395656.1(ROBO2):c.3243C>G (p.Pro1081=)
|
rs377172589
|
|
|
NM_001395891.1(CLASP1):c.196-679dup
|
rs542752836
|
|
|
NM_001440.4(EXTL3):c.2277-15_2277-3dup
|
rs756857596
|
|
|
NM_001458.5(FLNC):c.2008-6G>A
|
rs577813339
|
|
|
NM_001458.5(FLNC):c.6135G>C (p.Arg2045=)
|
rs1585168080
|
|
|
NM_001458.5(FLNC):c.8118_8121delinsTATC (p.Leu2706_Ile2707=)
|
rs2128940705
|
|
|
NM_001482.3(GATM):c.1159+19A>G
|
rs187979088
|
|
|
NM_001482.3(GATM):c.576G>A (p.Glu192=)
|
rs759135975
|
|
|
NM_001482.3(GATM):c.684C>T (p.Pro228=)
|
rs1251849022
|
|
|
NM_001482.3(GATM):c.814-17C>G
|
rs368314780
|
|
|
NM_001482.3(GATM):c.930C>T (p.Ile310=)
|
rs2140641456
|
|
|
NM_001482.3(GATM):c.979-18dup
|
rs202176047
|
|
|
NM_001605.3(AARS1):c.-21-11dup
|
rs756492963
|
|
|
NM_001614.5(ACTG1):c.15C>T (p.Ile5=)
|
rs199657153
|
|
|
NM_001680.5(FXYD2):c.198G>A (p.Pro66=)
|
rs149353193
|
|
|
NM_001680.5(FXYD2):c.198G>T (p.Pro66=)
|
rs149353193
|
|
|
NM_001690.4(ATP6V1A):c.1291-7dup
|
rs538710134
|
|
|
NM_001692.4(ATP6V1B1):c.195C>A (p.Ile65=)
|
rs375489300
|
|
|
NM_001692.4(ATP6V1B1):c.367+10A>T
|
rs1572919668
|
|
|
NM_001692.4(ATP6V1B1):c.367+20A>T
|
rs1572919684
|
|
|
NM_001692.4(ATP6V1B1):c.549C>A (p.Ile183=)
|
rs2104827670
|
|
|
NM_001715.3(BLK):c.269+13G>C
|
rs144839649
|
|
|
NM_001715.3(BLK):c.591G>T (p.Ser197=)
|
rs140834602
|
|
|
NM_001735.3(C5):c.1287G>A (p.Thr429=)
|
rs145139701
|
|
|
NM_001735.3(C5):c.1506+17G>T
|
rs182918168
|
|
|
NM_001735.3(C5):c.2563-15_2563-14delinsAT
|
rs2131724100
|
|
|
NM_001735.3(C5):c.3231-4A>C
|
rs777774046
|
|
|
NM_001735.3(C5):c.584+18T>C
|
rs773328492
|
|
|
NM_001753.5(CAV1):c.437G>C (p.Arg146Pro)
|
rs762818040
|
|
|
NM_001754.5(RUNX1):c.1272G>C (p.Ser424=)
|
rs1459260782
|
|
|
NM_001807.6(CEL):c.850C>G (p.Arg284Gly)
|
rs369868891
|
|
|
NM_001807.6(CEL):c.99G>C (p.Val33=)
|
rs199971842
|
|
|
NM_001844.5(COL2A1):c.2734-18C>T
|
rs570573455
|
|
|
NM_001845.6(COL4A1):c.1084+20C>T
|
rs756740376
|
|
|
NM_001845.6(COL4A1):c.1286-18_1286-17del
|
rs769629668
|
|
|
NM_001845.6(COL4A1):c.2144G>A (p.Arg715His)
|
rs199573161
|
|
|
NM_001845.6(COL4A1):c.2532T>C (p.Asp844=)
|
rs2139164290
|
|
|
NM_001845.6(COL4A1):c.3198+9C>A
|
rs112120233
|
|
|
NM_001845.6(COL4A1):c.3306C>T (p.Pro1102=)
|
rs752732736
|
|
|
NM_001845.6(COL4A1):c.3326-13dup
|
rs139122216
|
|
|
NM_001845.6(COL4A1):c.3972C>T (p.Leu1324=)
|
rs535848796
|
|
|
NM_001845.6(COL4A1):c.4770T>G (p.Gly1590=)
|
rs1339688171
|
|
|
NM_001845.6(COL4A1):c.958-10T>C
|
rs766495795
|
|
|
NM_001848.3(COL6A1):c.1120-12G>A
|
rs115107397
|
|
|
NM_001848.3(COL6A1):c.2783G>A (p.Arg928His)
|
rs144671871
|
|
|
NM_001848.3(COL6A1):c.3007C>T (p.Leu1003=)
|
rs2077865473
|
|
|
NM_001849.4(COL6A2):c.1251C>T (p.Arg417=)
|
rs61735827
|
|
|
NM_001851.6(COL9A1):c.2079+7dup
|
rs552585742
|
|
|
NM_001853.4(COL9A3):c.792+19G>A
|
rs115466848
|
|
|
NM_001873.4(CPE):c.505-3dup
|
rs754217127
|
|
|
NM_001875.4(CPS1):c.1030_1032delinsGCT (p.Thr344Ala)
|
rs386654705
|
|
|
NM_001875.5(CPS1):c.2265C>T (p.Ser755=)
|
rs41272667
|
|
|
NM_001903.5(CTNNA1):c.588+4_588+5del
|
rs147724289
|
|
|
NM_001927.4(DES):c.114G>A (p.Ala38=)
|
rs368901105
|
|
|
NM_001940.4(ATN1):c.1464GCA[14] (p.Gln502del)
|
rs60216939
|
|
|
NM_001940.4(ATN1):c.1464GCA[16] (p.Gln502dup)
|
rs60216939
|
|
|
NM_001942.4(DSG1):c.2622C>T (p.Gly874=)
|
rs149729348
|
|
|
NM_001957.4(EDNRA):c.1034+19G>A
|
rs10305924
|
|
|
NM_001963.6(EGF):c.940+11_940+12inv
|
|
|
|
NM_001999.4(FBN2):c.7841-14G>A
|
rs751308498
|
|
|
NM_002016.2(FLG):c.10985G>C (p.Ser3662Thr)
|
rs75235053
|
|
|
NM_002067.5(GNA11):c.322-10G>A
|
rs368874580
|
|
|
NM_002150.3(HPD):c.325-19G>C
|
rs200528285
|
|
|
NM_002204.4(ITGA3):c.*14C>G
|
rs187586850
|
|
|
NM_002204.4(ITGA3):c.1392C>T (p.Pro464=)
|
rs1126539
|
|
|
NM_002204.4(ITGA3):c.1509C>T (p.Ala503=)
|
rs192121420
|
|
|
NM_002204.4(ITGA3):c.1675-8C>T
|
rs373834648
|
|
|
NM_002204.4(ITGA3):c.1764G>A (p.Leu588=)
|
rs1321089081
|
|
|
NM_002204.4(ITGA3):c.2289G>T (p.Ser763=)
|
rs143126480
|
|
|
NM_002204.4(ITGA3):c.2920-8C>G
|
rs545444575
|
|
|
NM_002206.3(ITGA7):c.1410-3del
|
rs773251917
|
|
|
NM_002241.5(KCNJ10):c.366C>T (p.Ser122=)
|
rs1471561944
|
|
|
NM_002246.3(KCNK3):c.99C>G (p.Pro33=)
|
rs528661453
|
|
|
NM_002292.4(LAMB2):c.1519-6G>A
|
rs755545118
|
|
|
NM_002292.4(LAMB2):c.1683G>T (p.Arg561=)
|
rs760427008
|
|
|
NM_002292.4(LAMB2):c.3798-16del
|
rs750912455
|
|
|
NM_002292.4(LAMB2):c.5061G>T (p.Thr1687=)
|
rs150465100
|
|
|
NM_002292.4(LAMB2):c.762G>A (p.Thr254=)
|
rs201406827
|
|
|
NM_002294.3(LAMP2):c.742-7_742-5del
|
rs779710402
|
|
|
NM_002303.6(LEPR):c.1968G>C (p.Lys656Asn)
|
rs1805094
|
|
|
NM_002334.4(LRP4):c.200-26TTTTC[2]
|
rs760673637
|
|
|
NM_002334.4(LRP4):c.3004+18C>T
|
rs2306028
|
|
|
NM_002334.4(LRP4):c.3278-8C>T
|
rs1941033938
|
|
|
NM_002335.4(LRP5):c.1015+19_1015+23del
|
rs761661947
|
|
|
NM_002335.4(LRP5):c.1392C>T (p.Ile464=)
|
rs569443429
|
|
|
NM_002335.4(LRP5):c.1887C>T (p.Ile629=)
|
rs140958524
|
|
|
NM_002335.4(LRP5):c.201A>C (p.Ala67=)
|
rs540291726
|
|
|
NM_002335.4(LRP5):c.2334C>T (p.Thr778=)
|
rs753035383
|
|
|
NM_002335.4(LRP5):c.2504-16GT[3]
|
rs531798381
|
|
|
NM_002335.4(LRP5):c.3057C>T (p.Gly1019=)
|
rs772416019
|
|
|
NM_002335.4(LRP5):c.3638-19T>C
|
rs1591317491
|
|
|
NM_002351.5(SH2D1A):c.48C>T (p.Gly16=)
|
rs72610640
|
|
|
NM_002386.4(MC1R):c.795C>G (p.Val265=)
|
rs367998996
|
|
|
NM_002435.3(MPI):c.345+15_345+16delinsAT
|
rs1064794476
|
|
|
NM_002439.5(MSH3):c.1454-5del
|
rs780632399
|
|
|
NM_002471.4(MYH6):c.3979-11_3979-9delinsG
|
rs368229372
|
|
|
NM_002471.4(MYH6):c.3979-3dup
|
rs770492637
|
|
|
NM_002471.4(MYH6):c.3979-7_3979-4del
|
rs745326238
|
|
|
NM_002471.4(MYH6):c.3979-8C>T
|
rs555976716
|
|
|
NM_002471.4(MYH6):c.4360-7C>T
|
rs58949384
|
|
|
NM_002473.6(MYH9):c.1056C>T (p.Ile352=)
|
rs727504861
|
|
|
NM_002473.6(MYH9):c.1843+12G>C
|
rs150539764
|
|
|
NM_002473.6(MYH9):c.2037+14G>T
|
rs727504713
|
|
|
NM_002473.6(MYH9):c.255C>T (p.Asp85=)
|
rs569718443
|
|
|
NM_002473.6(MYH9):c.5275-10del
|
rs552643559
|
|
|
NM_002473.6(MYH9):c.5593-14G>T
|
rs201676960
|
|
|
NM_002473.6(MYH9):c.5764A>C (p.Arg1922=)
|
rs1603482692
|
|
|
NM_002474.3(MYH11):c.1047G>A (p.Val349=)
|
rs765006823
|
|
|
NM_002474.3(MYH11):c.1575+8del
|
rs769321167
|
|
|
NM_002474.3(MYH11):c.1908G>A (p.Glu636=)
|
rs1312174913
|
|
|
NM_002485.5(NBN):c.540C>T (p.Phe180=)
|
rs1060504928
|
|
|
NM_002500.5(NEUROD1):c.*1A>G
|
|
|
|
NM_002500.5(NEUROD1):c.129C>A (p.Leu43=)
|
rs116321775
|
|
|
NM_002500.5(NEUROD1):c.189T>C (p.Asp63=)
|
rs2105595687
|
|
|
NM_002528.7(NTHL1):c.115+9G>A
|
rs1393884097
|
|
|
NM_002591.4(PCK1):c.1674C>T (p.Ile558=)
|
rs115841045
|
|
|
NM_002661.5(PLCG2):c.2055-8_2055-7inv
|
|
|
|
NM_002661.5(PLCG2):c.2236-14C>T
|
rs12446127
|
|
|
NM_002661.5(PLCG2):c.3053-8C>A
|
rs1267501546
|
|
|
NM_002661.5(PLCG2):c.3192A>C (p.Thr1064=)
|
rs200366770
|
|
|
NM_002661.5(PLCG2):c.324G>C (p.Thr108=)
|
rs189282309
|
|
|
NM_002661.5(PLCG2):c.3756-20T>A
|
rs762802134
|
|
|
NM_002661.5(PLCG2):c.540C>G (p.Ala180=)
|
rs150276286
|
|
|
NM_002661.5(PLCG2):c.540C>T (p.Ala180=)
|
rs150276286
|
|
|
NM_002691.4(POLD1):c.324G>T (p.Ala108=)
|
rs20582
|
|
|
NM_002693.3(POLG):c.126GCA[12] (p.Gln55dup)
|
rs41550117
|
|
|
NM_002693.3(POLG):c.126GCA[14] (p.Gln53_Gln55dup)
|
rs41550117
|
|
|
NM_002693.3(POLG):c.126GCA[5] (p.Gln50_Gln55del)
|
rs41550117
|
|
|
NM_002693.3(POLG):c.126GCA[8] (p.Gln53_Gln55del)
|
rs41550117
|
|
|
NM_002693.3(POLG):c.126GCA[9] (p.Gln54_Gln55del)
|
rs41550117
|
|
|
NM_002693.3(POLG):c.3274-8C>T
|
rs1184674847
|
|
|
NM_002734.5(PRKAR1A):c.503-13dup
|
rs138285568
|
|
|
NM_002755.4(MAP2K1):c.291+14_291+20delinsTCTCACCAATCACCA
|
rs1064795401
|
|
|
NM_002764.4(PRPS1):c.123-16dup
|
rs750392051
|
|
|
NM_002834.5(PTPN11):c.519C>G (p.Arg173=)
|
rs767425313
|
|
|
NM_002857.4(PEX19):c.181-15A>G
|
rs114403769
|
|
|
NM_002880.3(RAF1):c.-340_-339GA[1]
|
rs527774250
|
|
|
NM_002880.4(RAF1):c.-204G>C
|
rs547543588
|
|
|
NM_002968.3(SALL1):c.3180C>A (p.Leu1060=)
|
rs142054182
|
|
|
NM_002968.3(SALL1):c.3322G>A (p.Val1108Ile)
|
rs148931484
|
|
|
NM_002968.3(SALL1):c.448AGC[13] (p.Ser157_Ser159dup)
|
rs113614842
|
|
|
NM_003000.3(SDHB):c.424-37TTC[10]
|
rs34261028
|
|
|
NM_003036.4(SKI):c.1311C>T (p.Ala437=)
|
rs140889128
|
|
|
NM_003051.4(SLC16A1):c.362-58TATT[8]
|
rs149491709
|
|
|
NM_003052.5(SLC34A1):c.1038G>T (p.Pro346=)
|
rs73336286
|
|
|
NM_003052.5(SLC34A1):c.1209C>T (p.Tyr403=)
|
rs1581648732
|
|
|
NM_003052.5(SLC34A1):c.1227C>A (p.Gly409=)
|
rs145542852
|
|
|
NM_003052.5(SLC34A1):c.272_292del (p.Val91_Ala97del)
|
rs876661296
|
|
|
NM_003070.5(SMARCA2):c.669GCA[16] (p.Gln238_Pro239insGlnGlnGln)
|
rs113070757
|
|
|
NM_003072.5(SMARCA4):c.120C>T (p.His40=)
|
rs375884151
|
|
|
NM_003072.5(SMARCA4):c.4170+17C>T
|
rs145829956
|
|
|
NM_003184.4(TAF2):c.1684-17C>T
|
rs118105771
|
|
|
NM_003190.5(TAPBP):c.174_175delinsTT (p.Asp59Tyr)
|
rs1554279472
|
|
|
NM_003238.6(TGFB2):c.-45del
|
rs200186989
|
|
|
NM_003239.5(TGFB3):c.353-14_353-10del
|
rs1422599707
|
|
|
NM_003289.4(TPM2):c.564-20_564-19dup
|
rs3215700
|
|
|
NM_003289.4(TPM2):c.773-4_773-3dup
|
rs35401252
|
|
|
NM_003327.4(TNFRSF4):c.371-16C>T
|
rs34108055
|
|
|
NM_003356.4(UCP3):c.63C>G (p.Gly21=)
|
rs181883754
|
|
|
NM_003361.4(UMOD):c.114T>C (p.Asn38=)
|
rs766555124
|
|
|
NM_003361.4(UMOD):c.1577+11G>A
|
rs184055420
|
|
|
NM_003361.4(UMOD):c.165C>T (p.Gly55=)
|
rs1478057939
|
|
|
NM_003361.4(UMOD):c.555C>T (p.Arg185=)
|
rs866510195
|
|
|
NM_003361.4(UMOD):c.840C>T (p.Pro280=)
|
rs78691203
|
|
|
NM_003384.3(VRK1):c.1058_1060del (p.Thr353del)
|
rs794727029
|
|
|
NM_003482.4(KMT2D):c.8148T>C (p.Pro2716=)
|
rs369429157
|
|
|
NM_003482.4(KMT2D):c.8148_8149delinsCT (p.Pro2717Ser)
|
rs398123761
|
|
|
NM_003597.5(KLF11):c.1050G>A (p.Pro350=)
|
rs145193520
|
|
|
NM_003597.5(KLF11):c.42+18C>G
|
rs1476684022
|
|
|
NM_003597.5(KLF11):c.870C>T (p.Ile290=)
|
rs149235463
|
|
|
NM_003611.3(OFD1):c.216C>A (p.Gly72=)
|
rs369907022
|
|
|
NM_003611.3(OFD1):c.2488+14_2488+19del
|
rs781190242
|
|
|
NM_003611.3(OFD1):c.2996+16AC[2]
|
rs761270089
|
|
|
NM_003611.3(OFD1):c.517+13_517+14delinsGC
|
rs2146959704
|
|
|
NM_003632.3(CNTNAP1):c.2340C>A (p.Gly780=)
|
rs141352323
|
|
|
NM_003638.3(ITGA8):c.1400-11G>A
|
rs9333267
|
|
|
NM_003640.5(ELP1):c.1644-13dup
|
rs756059162
|
|
|
NM_003640.5(ELP1):c.2283+11_2283+15del
|
rs778115996
|
|
|
NM_003640.5(ELP1):c.2826A>T (p.Arg942=)
|
rs780726202
|
|
|
NM_003640.5(ELP1):c.2908T>C (p.Leu970=)
|
rs180931232
|
|
|
NM_003640.5(ELP1):c.3069G>A (p.Leu1023=)
|
rs1063110
|
|
|
NM_003640.5(ELP1):c.958+19_958+20delinsAT
|
rs2132024951
|
|
|
NM_003661.4(APOL1):c.188-14T>A
|
rs136163
|
|
|
NM_003661.4(APOL1):c.188-14T>G
|
rs136163
|
|
|
NM_003661.4(APOL1):c.314+14G>T
|
rs370874898
|
|
|
NM_003661.4(APOL1):c.945T>G (p.Gly315=)
|
rs1603482264
|
|
|
NM_003664.5(AP3B1):c.705T>C (p.Asp235=)
|
rs779084730
|
|
|
NM_003690.5(PRKRA):c.784+15del
|
rs200581051
|
|
|
NM_003722.5(TP63):c.192-9_192-8del
|
rs794727498
|
|
|
NM_003722.5(TP63):c.20G>T (p.Arg7Leu)
|
rs568702479
|
|
|
NM_003742.4(ABCB11):c.77-16dup
|
rs746419453
|
|
|
NM_003924.4(PHOX2B):c.741_758del (p.Ala255_Ala260del)
|
rs771383153
|
|
|
NM_003924.4(PHOX2B):c.765_779del (p.Ala256_Ala260del)
|
rs761018157
|
|
|
NM_003982.4(SLC7A7):c.1095+14A>G
|
rs2139386863
|
|
|
NM_003982.4(SLC7A7):c.1245+10C>T
|
rs531427504
|
|
|
NM_003982.4(SLC7A7):c.390C>G (p.Thr130=)
|
rs1473768240
|
|
|
NM_003982.4(SLC7A7):c.625+18T>C
|
rs974421997
|
|
|
NM_003982.4(SLC7A7):c.999-16A>G
|
rs1594944509
|
|
|
NM_004006.3(DMD):c.10554-29_10554-20del
|
rs200138464
|
|
|
NM_004006.3(DMD):c.11031A>G (p.Gly3677=)
|
rs2147665754
|
|
|
NM_004006.3(DMD):c.2328A>G (p.Lys776=)
|
rs1603634973
|
|
|
NM_004006.3(DMD):c.94-9dup
|
rs3834997
|
|
|
NM_004069.6(AP2S1):c.4-14_4-12del
|
rs373163721
|
|
|
NM_004113.6(FGF12):c.229-8dup
|
rs34265167
|
|
|
NM_004181.5(UCHL1):c.326-4del
|
rs3214812
|
|
|
NM_004208.4(AIFM1):c.597A>G (p.Lys199=)
|
rs143670174
|
|
|
NM_004316.4(ASCL1):c.151CAG[8] (p.Gln59_Gln62del)
|
rs3832799
|
|
|
NM_004333.6(BRAF):c.1206C>A (p.Pro402=)
|
rs201758035
|
|
|
NM_004333.6(BRAF):c.1432+17_1432+19del
|
rs777363183
|
|
|
NM_004333.6(BRAF):c.1719C>A (p.Ile573=)
|
rs2128999629
|
|
|
NM_004333.6(BRAF):c.1992+16G>C
|
rs3789806
|
|
|
NM_004333.6(BRAF):c.2128-27_2128-19del
|
rs761539834
|
|
|
NM_004356.4(CD81):c.459+4C>T
|
rs116421908
|
|
|
NM_004366.6(CLCN2):c.1856-11G>C
|
rs200595019
|
|
|
NM_004366.6(CLCN2):c.2415+4_2415+5dup
|
rs146494980
|
|
|
NM_004369.4(COL6A3):c.7645C>T (p.Arg2549Trp)
|
rs151079701
|
|
|
NM_004371.4(COPA):c.480C>T (p.Arg160=)
|
rs369092759
|
|
|
NM_004380.3(CREBBP):c.1095T>C (p.His365=)
|
rs565069106
|
|
|
NM_004380.3(CREBBP):c.3370-4del
|
rs75459669
|
|
|
NM_004380.3(CREBBP):c.3370-5_3370-4del
|
rs75459669
|
|
|
NM_004380.3(CREBBP):c.5241G>T (p.Leu1747=)
|
rs932933039
|
|
|
NM_004380.3(CREBBP):c.6612GCA[4] (p.Gln2216dup)
|
rs779647460
|
|
|
NM_004380.3(CREBBP):c.6621_6629del (p.Gln2214_Gln2216del)
|
rs727503890
|
|
|
NM_004380.3(CREBBP):c.6624A>G (p.Gln2208=)
|
rs142545779
|
|
|
NM_004380.3(CREBBP):c.6834G>A (p.Gly2278=)
|
rs372866305
|
|
|
NM_004380.3(CREBBP):c.712G>A (p.Val238Met)
|
rs146887252
|
|
|
NM_004380.3(CREBBP):c.712G>C (p.Val238Leu)
|
rs146887252
|
|
|
NM_004380.3(CREBBP):c.753T>G (p.Thr251=)
|
rs142403441
|
|
|
NM_004415.4(DSP):c.2091A>T (p.Gly697=)
|
rs2076304
|
|
|
NM_004415.4(DSP):c.2436+16A>G
|
rs199555263
|
|
|
NM_004415.4(DSP):c.5116C>T (p.Leu1706=)
|
rs1759432452
|
|
|
NM_004415.4(DSP):c.6441C>T (p.Val2147=)
|
rs762513279
|
|
|
NM_004415.4(DSP):c.78G>T (p.Leu26=)
|
rs71559180
|
|
|
NM_004456.5(EZH2):c.118-18_118-16del
|
rs775795844
|
|
|
NM_004473.4(FOXE1):c.505GCC[7] (p.Ala176_Ala179del)
|
rs71369530
|
|
|
NM_004482.4(GALNT3):c.897G>T (p.Thr299=)
|
rs75931918
|
|
|
NM_004484.4(GPC3):c.338-20dup
|
rs370737647
|
|
|
NM_004484.4(GPC3):c.338-5del
|
rs370737647
|
|
|
NM_004484.4(GPC3):c.338-6_338-5dup
|
rs370737647
|
|
|
NM_004484.4(GPC3):c.338-7_338-5del
|
rs370737647
|
|
|
NM_004525.3(LRP2):c.10155C>T (p.His3385=)
|
rs765266983
|
|
|
NM_004525.3(LRP2):c.1186A>G (p.Ile396Val)
|
rs527397264
|
|
|
NM_004525.3(LRP2):c.11985C>T (p.Phe3995=)
|
rs138867955
|
|
|
NM_004525.3(LRP2):c.13044A>T (p.Gly4348=)
|
rs143254052
|
|
|
NM_004525.3(LRP2):c.13137C>G (p.Pro4379=)
|
rs140160600
|
|
|
NM_004525.3(LRP2):c.13218C>T (p.Thr4406=)
|
rs780040199
|
|
|
NM_004525.3(LRP2):c.13519-40CT[7]
|
rs138614485
|
|
|
NM_004525.3(LRP2):c.13519-40CT[8]
|
rs138614485
|
|
|
NM_004525.3(LRP2):c.13519-40CT[9]
|
rs138614485
|
|
|
NM_004525.3(LRP2):c.13620+16G>A
|
rs2105334637
|
|
|
NM_004525.3(LRP2):c.13830T>G (p.Ala4610=)
|
rs2105322142
|
|
|
NM_004525.3(LRP2):c.1593C>T (p.Ser531=)
|
rs148996947
|
|
|
NM_004525.3(LRP2):c.1975+19G>A
|
rs2105443566
|
|
|
NM_004525.3(LRP2):c.246C>T (p.Pro82=)
|
rs1684836154
|
|
|
NM_004525.3(LRP2):c.428-14_428-8del
|
rs370823033
|
|
|
NM_004525.3(LRP2):c.428-18_428-8del
|
rs370823033
|
|
|
NM_004525.3(LRP2):c.538+19A>T
|
rs2105472858
|
|
|
NM_004525.3(LRP2):c.6267G>A (p.Pro2089=)
|
rs2228169
|
|
|
NM_004525.3(LRP2):c.652+14T>A
|
rs116358988
|
|
|
NM_004525.3(LRP2):c.652+14T>G
|
rs116358988
|
|
|
NM_004525.3(LRP2):c.770-5C>A
|
rs180797349
|
|
|
NM_004525.3(LRP2):c.7716-13del
|
rs754348745
|
|
|
NM_004525.3(LRP2):c.7716-13dup
|
rs754348745
|
|
|
NM_004525.3(LRP2):c.80-14_80-11del
|
rs777197536
|
|
|
NM_004525.3(LRP2):c.8699-8C>T
|
rs145301652
|
|
|
NM_004525.3(LRP2):c.923-19del
|
rs535311793
|
|
|
NM_004560.4(ROR2):c.1104C>T (p.Pro368=)
|
rs200675570
|
|
|
NM_004560.4(ROR2):c.2442G>A (p.Pro814=)
|
rs185808139
|
|
|
NM_004589.4(SCO1):c.656-20C>G
|
rs375940362
|
|
|
NM_004612.4(TGFBR1):c.529T>C (p.Leu177=)
|
rs1827279899
|
|
|
NM_004621.6(TRPC6):c.1212G>A (p.Ala404=)
|
rs144085223
|
|
|
NM_004621.6(TRPC6):c.2142G>A (p.Thr714=)
|
rs145077205
|
|
|
NM_004621.6(TRPC6):c.336A>C (p.Pro112=)
|
rs201818043
|
|
|
NM_004628.5(XPC):c.1000C>T (p.Pro334Ser)
|
rs200338014
|
|
|
NM_004629.2(FANCG):c.511-10_511-8del
|
rs1384885358
|
|
|
NM_004629.2(FANCG):c.511-6dup
|
rs376732298
|
|
|
NM_004629.2(FANCG):c.81C>T (p.Ala27=)
|
rs1060504372
|
|
|
NM_004629.2(FANCG):c.957G>C (p.Pro319=)
|
rs145092954
|
|
|
NM_004646.4(NPHS1):c.1131C>T (p.Gly377=)
|
rs1450827580
|
|
|
NM_004646.4(NPHS1):c.1296G>A (p.Ser432=)
|
rs766646699
|
|
|
NM_004646.4(NPHS1):c.1935T>C (p.Arg645=)
|
rs2146822391
|
|
|
NM_004646.4(NPHS1):c.2001C>T (p.Pro667=)
|
rs1437050024
|
|
|
NM_004646.4(NPHS1):c.2072-5C>T
|
rs1973103431
|
|
|
NM_004646.4(NPHS1):c.2259C>T (p.Val753=)
|
rs766951918
|
|
|
NM_004646.4(NPHS1):c.312C>T (p.Ser104=)
|
rs114540811
|
|
|
NM_004646.4(NPHS1):c.3228C>T (p.Ser1076=)
|
rs1003131306
|
|
|
NM_004646.4(NPHS1):c.3249G>C (p.Gly1083=)
|
rs779723501
|
|
|
NM_004646.4(NPHS1):c.3387+9G>A
|
rs1381677154
|
|
|
NM_004646.4(NPHS1):c.3438C>T (p.Ser1146=)
|
rs1324557507
|
|
|
NM_004646.4(NPHS1):c.3482-7A>C
|
rs73928326
|
|
|
NM_004646.4(NPHS1):c.360C>G (p.Pro120=)
|
rs371652869
|
|
|
NM_004646.4(NPHS1):c.415C>T (p.Leu139=)
|
rs2146831286
|
|
|
NM_004646.4(NPHS1):c.429G>A (p.Glu143=)
|
rs1173468417
|
|
|
NM_004646.4(NPHS1):c.570C>T (p.Gly190=)
|
rs1475015789
|
|
|
NM_004655.4(AXIN2):c.-116-13del
|
rs530658215
|
|
|
NM_004655.4(AXIN2):c.1235A>G (p.Asn412Ser)
|
rs115931022
|
|
|
NM_004752.4(GCM2):c.1177_1185dup (p.Ala393_Gln395dup)
|
rs551375300
|
|
|
NM_004752.4(GCM2):c.129C>G (p.Asp43Glu)
|
rs141188465
|
|
|
NM_004782.4(SNAP29):c.487A>G (p.Ser163Gly)
|
rs116892729
|
|
|
NM_004836.7(EIF2AK3):c.598C>T (p.Leu200=)
|
rs1674997611
|
|
|
NM_004863.4(SPTLC2):c.162A>C (p.Leu54=)
|
rs115191009
|
|
|
NM_004863.4(SPTLC2):c.723G>T (p.Thr241=)
|
rs114519796
|
|
|
NM_004937.3(CTNS):c.141-8C>T
|
rs768912772
|
|
|
NM_004944.4(DNASE1L3):c.519G>C (p.Thr173=)
|
rs138720416
|
|
|
NM_004958.4(MTOR):c.2331+6A>G
|
rs761030701
|
|
|
NM_004958.4(MTOR):c.348C>T (p.Pro116=)
|
rs558389352
|
|
|
NM_004960.4(FUS):c.524-13dup
|
rs755045476
|
|
|
NM_004985.5(KRAS):c.112-9C>T
|
rs727504298
|
|
|
NM_004998.4(MYO1E):c.2334+10_2334+11delinsGC
|
rs2140317179
|
|
|
NM_004998.4(MYO1E):c.2878+18C>T
|
rs759274124
|
|
|
NM_005005.3(NDUFB9):c.-51A>G
|
rs371001929
|
|
|
NM_005006.7(NDUFS1):c.154-13_154-9del
|
rs568965659
|
|
|
NM_005006.7(NDUFS1):c.154-9del
|
rs568965659
|
|
|
NM_005045.4(RELN):c.4257T>C (p.His1419=)
|
rs138924805
|
|
|
NM_005045.4(RELN):c.9730G>A (p.Gly3244Ser)
|
rs73714410
|
|
|
NM_005120.3(MED12):c.6208CAG[6] (p.Gln2076del)
|
rs757160341
|
|
|
NM_005157.6(ABL1):c.2035T>G (p.Ser679Ala)
|
rs201278085
|
|
|
NM_005159.5(ACTC1):c.809-58TG[29]
|
rs59431308
|
|
|
NM_005188.4(CBL):c.107ACC[6] (p.His42del)
|
rs373212940
|
|
|
NM_005215.4(DCC):c.2158C>T (p.Leu720=)
|
rs138143831
|
|
|
NM_005219.5(DIAPH1):c.1821TCC[7] (p.Pro617_Pro620del)
|
rs3075570
|
|
|
NM_005236.3(ERCC4):c.1342G>C (p.Glu448Gln)
|
rs547209644
|
|
|
NM_005236.3(ERCC4):c.2124C>T (p.Pro708=)
|
rs376391395
|
|
|
NM_005257.6(GATA6):c.525G>T (p.Ala175=)
|
rs759587190
|
|
|
NM_005263.5(GFI1):c.925-40CT[15]
|
rs35896485
|
|
|
NM_005263.5(GFI1):c.925-40CT[19]
|
rs35896485
|
|
|
NM_005343.4(HRAS):c.291-6T>G
|
rs766909143
|
|
|
NM_005359.6(SMAD4):c.1125C>T (p.Ala375=)
|
rs1060504023
|
|
|
NM_005360.5(MAF):c.678CGG[10] (p.Gly237_Gly238dup)
|
rs887468453
|
|
|
NM_005378.6(MYCN):c.279G>A (p.Glu93=)
|
rs151113760
|
|
|
NM_005515.4(MNX1):c.298GGC[5] (p.Gly105del)
|
rs757330807
|
|
|
NM_005515.4(MNX1):c.375CGC[6] (p.Ala132_Ala134del)
|
rs548755417
|
|
|
NM_005548.3(KARS1):c.223-8_223-6del
|
rs370077957
|
|
|
NM_005585.5(SMAD6):c.952+13del
|
rs761315842
|
|
|
NM_005589.4(ALDH6A1):c.853-11dup
|
rs528185481
|
|
|
NM_005609.4(PYGM):c.661-5C>G
|
rs75633423
|
|
|
NM_005629.4(SLC6A8):c.1392+17dup
|
rs781964988
|
|
|
NM_005633.4(SOS1):c.2674-9dup
|
rs532594344
|
|
|
NM_005634.3(SOX3):c.711_731del (p.Ala242_Ala248del)
|
rs776775669
|
|
|
NM_005670.4(EPM2A):c.136G>C (p.Ala46Pro)
|
rs374338349
|
|
|
NM_005751.5(AKAP9):c.11682G>A (p.Gln3894=)
|
rs769718964
|
|
|
NM_005751.5(AKAP9):c.4918-10dup
|
rs755283199
|
|
|
NM_005802.5(TOPORS):c.74C>G (p.Ser25Trp)
|
rs61758066
|
|
|
NM_005921.2(MAP3K1):c.835-11dup
|
rs201780112
|
|
|
NM_006005.3(WFS1):c.1038G>A (p.Pro346=)
|
rs143886476
|
|
|
NM_006005.3(WFS1):c.1233T>G (p.Ser411=)
|
rs760897070
|
|
|
NM_006005.3(WFS1):c.1476T>C (p.Pro492=)
|
rs1730893286
|
|
|
NM_006005.3(WFS1):c.1797C>A (p.Val599=)
|
rs71524361
|
|
|
NM_006005.3(WFS1):c.1806G>A (p.Ala602=)
|
rs142295878
|
|
|
NM_006005.3(WFS1):c.2158A>G (p.Ile720Val)
|
rs1805070
|
|
|
NM_006005.3(WFS1):c.2565A>T (p.Ser855=)
|
rs1046316
|
|
|
NM_006005.3(WFS1):c.316-14T>C
|
rs749922151
|
|
|
NM_006005.3(WFS1):c.510C>T (p.Thr170=)
|
rs151277039
|
|
|
NM_006005.3(WFS1):c.713-19G>A
|
rs776845938
|
|
|
NM_006005.3(WFS1):c.862-18G>A
|
rs763167503
|
|
|
NM_006005.3(WFS1):c.876C>G (p.Pro292=)
|
rs1159812254
|
|
|
NM_006015.6(ARID1A):c.3978GCA[10] (p.Gln1333_Gln1334dup)
|
rs374564889
|
|
|
NM_006031.6(PCNT):c.1542C>T (p.Ser514=)
|
rs2249057
|
|
|
NM_006073.4(TRDN):c.233-14_233-13del
|
rs66509682
|
|
|
NM_006080.3(SEMA3A):c.1302_1303inv (p.Val435Ile)
|
|
|
|
NM_006180.6(NTRK2):c.1396+10del
|
rs781678424
|
|
|
NM_006208.3(ENPP1):c.1437+9_1437+12del
|
rs376640801
|
|
|
NM_006208.3(ENPP1):c.313+8_313+9dup
|
rs377330284
|
|
|
NM_006208.3(ENPP1):c.313+8_313+9insTTGTGTGT
|
rs879243445
|
|
|
NM_006214.4(PHYH):c.846C>T (p.Phe282=)
|
rs373839944
|
|
|
NM_006231.4(POLE):c.2706+11G>C
|
rs1555226410
|
|
|
NM_006231.4(POLE):c.2865-5_2865-4del
|
rs369732588
|
|
|
NM_006231.4(POLE):c.4476C>T (p.His1492=)
|
rs5744943
|
|
|
NM_006231.4(POLE):c.5570A>G (p.Lys1857Arg)
|
rs5744971
|
|
|
NM_006265.3(RAD21):c.815-27dup
|
rs35902828
|
|
|
NM_006265.3(RAD21):c.815-6_815-5del
|
rs35902828
|
|
|
NM_006267.5(RANBP2):c.7474A>G (p.Thr2492Ala)
|
rs2693103
|
|
|
NM_006306.4(SMC1A):c.3450C>A (p.Ala1150=)
|
rs142611198
|
|
|
NM_006306.4(SMC1A):c.3555C>T (p.Ile1185=)
|
rs2146581314
|
|
|
NM_006306.4(SMC1A):c.951G>A (p.Lys317=)
|
rs2146604793
|
|
|
NM_006343.3(MERTK):c.1493_1494inv (p.Asn498Ser)
|
|
|
|
NM_006343.3(MERTK):c.669G>A (p.Pro223=)
|
rs750984679
|
|
|
NM_006346.4(PIBF1):c.1223+14_1223+15dup
|
rs200683940
|
|
|
NM_006346.4(PIBF1):c.1965-4dup
|
rs376654507
|
|
|
NM_006348.5(COG5):c.538+20del
|
rs201626701
|
|
|
NM_006371.5(CRTAP):c.18G>C (p.Arg6=)
|
rs1333081449
|
|
|
NM_006412.4(AGPAT2):c.*79C>G
|
rs112657922
|
|
|
NM_006445.4(PRPF8):c.1985-6dup
|
rs1176602293
|
|
|
NM_006445.4(PRPF8):c.603C>T (p.Ala201=)
|
rs148215037
|
|
|
NM_006509.4(RELB):c.1458C>T (p.Asp486=)
|
rs77076601
|
|
|
NM_006514.4(SCN10A):c.41G>T (p.Arg14Leu)
|
rs141207048
|
|
|
NM_006517.5(SLC16A2):c.-114GGCAGC[4]
|
rs760787234
|
|
|
NM_006618.5(KDM5B):c.712-4del
|
rs558975598
|
|
|
NM_006642.5(SDCCAG8):c.1617-5T>C
|
rs904057670
|
|
|
NM_006642.5(SDCCAG8):c.597C>T (p.Gly199=)
|
rs143407309
|
|
|
NM_006662.3(SRCAP):c.1278G>A (p.Glu426=)
|
rs780939002
|
|
|
NM_006662.3(SRCAP):c.1493-8C>A
|
rs184337406
|
|
|
NM_006662.3(SRCAP):c.1878A>G (p.Leu626=)
|
rs1596647814
|
|
|
NM_006662.3(SRCAP):c.189C>A (p.Pro63=)
|
rs79656879
|
|
|
NM_006662.3(SRCAP):c.4088C>G (p.Ala1363Gly)
|
rs372507463
|
|
|
NM_006662.3(SRCAP):c.6495-5C>G
|
rs189024516
|
|
|
NM_006767.4(LZTR1):c.1620T>C (p.His540=)
|
rs141610191
|
|
|
NM_006772.3(SYNGAP1):c.67+15del
|
rs753367470
|
|
|
NM_006904.7(PRKDC):c.9337-5_9337-4del
|
rs11311765
|
|
|
NM_006907.4(PYCR1):c.67+10del
|
rs779525010
|
|
|
NM_006939.4(SOS2):c.1263T>C (p.Asn421=)
|
rs369267864
|
|
|
NM_006939.4(SOS2):c.3540TCC[4] (p.Pro1183dup)
|
rs765097073
|
|
|
NM_007055.4(POLR3A):c.1745G>T (p.Arg582Leu)
|
rs34588967
|
|
|
NM_007078.3(LDB3):c.672T>C (p.Gly224=)
|
rs2132373056
|
|
|
NM_007118.4(TRIO):c.3332-8T>C
|
rs369818812
|
|
|
NM_007129.5(ZIC2):c.1497C>A (p.Gly499=)
|
rs186543347
|
|
|
NM_007129.5(ZIC2):c.692ACC[10] (p.His239dup)
|
rs398124241
|
|
|
NM_007214.5(SEC63):c.125-13del
|
rs565329945
|
|
|
NM_007214.5(SEC63):c.1936-11_1936-9del
|
rs749125299
|
|
|
NM_007214.5(SEC63):c.1936-27_1936-25dup
|
rs749125299
|
|
|
NM_007214.5(SEC63):c.340-12_340-7delinsCCCC
|
rs1554237221
|
|
|
NM_007214.5(SEC63):c.340-12_340-8del
|
rs747514864
|
|
|
NM_007214.5(SEC63):c.961+14C>T
|
rs143606782
|
|
|
NM_007254.4(PNKP):c.538C>A (p.Arg180Ser)
|
rs3739185
|
|
|
NM_007294.4(BRCA1):c.1843TCT[1] (p.Ser616del)
|
rs80358329
|
|
|
NM_007294.4(BRCA1):c.3075A>C (p.Thr1025=)
|
rs786201258
|
|
|
NM_007294.4(BRCA1):c.4185+11TG[5]
|
rs273900723
|
|
|
NM_007294.4(BRCA1):c.5406A>C (p.Thr1802=)
|
rs879255493
|
|
|
NM_007317.3(KIF22):c.1737G>A (p.Gln579=)
|
rs144222256
|
|
|
NM_007317.3(KIF22):c.576G>C (p.Ser192=)
|
rs11545431
|
|
|
NM_007325.5(GRIA3):c.1125T>C (p.Tyr375=)
|
rs562407134
|
|
|
NM_012062.5(DNM1L):c.1885-15del
|
rs863223951
|
|
|
NM_012120.3(CD2AP):c.1275-11dup
|
rs569215676
|
|
|
NM_012203.2(GRHPR):c.390C>T (p.Ile130=)
|
rs752869610
|
|
|
NM_012210.4(TRIM32):c.216C>T (p.Ser72=)
|
rs1860954629
|
|
|
NM_012210.4(TRIM32):c.378A>G (p.Ala126=)
|
rs1860970214
|
|
|
NM_012210.4(TRIM32):c.939G>T (p.Ala313=)
|
rs375442860
|
|
|
NM_012318.3(LETM1):c.393C>A (p.Asn131Lys)
|
rs145996246
|
|
|
NM_012318.3(LETM1):c.83-19dup
|
rs145853749
|
|
|
NM_012330.4(KAT6B):c.2790G>T (p.Ala930=)
|
rs765834987
|
|
|
NM_012330.4(KAT6B):c.3289GAA[6] (p.Glu1103_Glu1104del)
|
rs71929101
|
|
|
NM_012330.4(KAT6B):c.3717C>G (p.Pro1239=)
|
rs147746065
|
|
|
NM_012330.4(KAT6B):c.4065GGA[3] (p.Glu1367_Glu1368del)
|
rs367634881
|
|
|
NM_012330.4(KAT6B):c.622-7G>A
|
rs751195432
|
|
|
NM_012431.3(SEMA3E):c.1144-7T>C
|
rs1370491845
|
|
|
NM_012431.3(SEMA3E):c.1668-10T>G
|
rs1284168796
|
|
|
NM_012431.3(SEMA3E):c.2151C>T (p.Ile717=)
|
rs375211355
|
|
|
NM_012434.5(SLC17A5):c.1112-8A>C
|
rs1581962639
|
|
|
NM_013254.4(TBK1):c.541-9del
|
rs369498196
|
|
|
NM_013254.4(TBK1):c.541-9dup
|
rs369498196
|
|
|
NM_013275.6(ANKRD11):c.1844C>G (p.Ala615Gly)
|
rs115797011
|
|
|
NM_013275.6(ANKRD11):c.3431C>T (p.Pro1144Leu)
|
rs137894790
|
|
|
NM_013275.6(ANKRD11):c.4475_4498del (p.1484_1491LLRHHRDE[1])
|
rs534329317
|
|
|
NM_013275.6(ANKRD11):c.6262G>A (p.Ala2088Thr)
|
rs753691962
|
|
|
NM_013276.4(SHPK):c.495-19dup
|
rs140922564
|
|
|
NM_013447.4(ADGRE2):c.1693_1709del (p.Gln565fs)
|
rs375427337
|
|
|
NM_014000.3(VCL):c.169-11del
|
rs753900484
|
|
|
NM_014009.4(FOXP3):c.1045-11C>G
|
rs74162068
|
|
|
NM_014009.4(FOXP3):c.336C>T (p.His112=)
|
rs143632471
|
|
|
NM_014014.5(SNRNP200):c.5983G>A (p.Ala1995Thr)
|
rs201691299
|
|
|
NM_014140.4(SMARCAL1):c.1148-8_1148-6del
|
rs780003181
|
|
|
NM_014140.4(SMARCAL1):c.1203C>T (p.Leu401=)
|
rs2106029145
|
|
|
NM_014140.4(SMARCAL1):c.1572C>A (p.Ile524=)
|
rs749951090
|
|
|
NM_014140.4(SMARCAL1):c.2667C>T (p.Ser889=)
|
rs2106094842
|
|
|
NM_014140.4(SMARCAL1):c.279G>A (p.Gln93=)
|
rs2106014599
|
|
|
NM_014140.4(SMARCAL1):c.960C>T (p.Ala320=)
|
rs2066513
|
|
|
NM_014141.6(CNTNAP2):c.3660C>A (p.Thr1220=)
|
rs573467341
|
|
|
NM_014225.6(PPP2R1A):c.1364-16C>G
|
rs8100816
|
|
|
NM_014319.5(LEMD3):c.240_263del (p.Pro81_Gly88del)
|
rs756800816
|
|
|
NM_014363.6(SACS):c.21-162C>G
|
rs578105700
|
|
|
NM_014423.4(AFF4):c.1051-17A>C
|
rs55844143
|
|
|
NM_014425.5(INVS):c.1638C>T (p.His546=)
|
rs758665047
|
|
|
NM_014425.5(INVS):c.2582G>C (p.Arg861Thr)
|
rs760537423
|
|
|
NM_014425.5(INVS):c.448-19G>T
|
rs760646531
|
|
|
NM_014425.5(INVS):c.849C>T (p.Ile283=)
|
rs886038605
|
|
|
NM_014491.4(FOXP2):c.510ACA[4] (p.Gln191del)
|
rs398124272
|
|
|
NM_014585.6(SLC40A1):c.271+10_271+12del
|
rs768786843
|
|
|
NM_014588.6(VSX1):c.740C>G (p.Pro247Arg)
|
rs576300014
|
|
|
NM_014625.4(NPHS2):c.276T>C (p.Gly92=)
|
rs955807467
|
|
|
NM_014625.4(NPHS2):c.451+9dup
|
rs542240453
|
|
|
NM_014704.4(CEP104):c.2111G>A (p.Gly704Glu)
|
rs139181137
|
|
|
NM_014714.4(IFT140):c.1428T>C (p.Ser476=)
|
rs771030841
|
|
|
NM_014714.4(IFT140):c.148-16_148-15delinsGC
|
rs2142043610
|
|
|
NM_014714.4(IFT140):c.1653-10del
|
rs760597633
|
|
|
NM_014714.4(IFT140):c.1737C>T (p.Ser579=)
|
rs1230491407
|
|
|
NM_014714.4(IFT140):c.1770+15C>G
|
rs374526643
|
|
|
NM_014714.4(IFT140):c.1933A>G (p.Asn645Asp)
|
rs540658203
|
|
|
NM_014714.4(IFT140):c.2400-12G>A
|
rs186193750
|
|
|
NM_014714.4(IFT140):c.2550C>G (p.Ala850=)
|
rs2745180
|
|
|
NM_014714.4(IFT140):c.258G>A (p.Thr86=)
|
rs766569165
|
|
|
NM_014714.4(IFT140):c.3003G>T (p.Ala1001=)
|
rs151293332
|
|
|
NM_014714.4(IFT140):c.3525C>T (p.Thr1175=)
|
rs752664070
|
|
|
NM_014714.4(IFT140):c.370-20G>C
|
rs200779129
|
|
|
NM_014714.4(IFT140):c.4183-11C>T
|
rs776525322
|
|
|
NM_014714.4(IFT140):c.4227C>G (p.Ala1409=)
|
rs143920103
|
|
|
NM_014714.4(IFT140):c.474G>C (p.Arg158=)
|
rs145287241
|
|
|
NM_014727.3(KMT2B):c.1108GAA[3] (p.Glu373del)
|
rs201152143
|
|
|
NM_014727.3(KMT2B):c.6249G>A (p.Thr2083=)
|
rs375564425
|
|
|
NM_014795.4(ZEB2):c.593-9C>T
|
rs372216323
|
|
|
NM_014806.5(RUSC2):c.3720GGAAGA[1] (p.Glu1245_Glu1246del)
|
rs145749994
|
|
|
NM_014845.6(FIG4):c.447-16delinsTT
|
rs1776038653
|
|
|
NM_014845.6(FIG4):c.447-17dup
|
rs764540259
|
|
|
NM_014862.4(ARNT2):c.195-16C>T
|
rs79685127
|
|
|
NM_014874.4(MFN2):c.564C>T (p.Cys188=)
|
rs536007087
|
|
|
NM_014915.3(ANKRD26):c.937G>A (p.Asp313Asn)
|
rs61730102
|
|
|
NM_014920.5(CILK1):c.1106_1117del (p.Pro369_Leu372del)
|
rs201964851
|
|
|
NM_014956.5(CEP164):c.1153-15G>T
|
rs372749388
|
|
|
NM_014956.5(CEP164):c.1233+18del
|
rs2135973306
|
|
|
NM_014956.5(CEP164):c.1362C>T (p.Ser454=)
|
rs1163809267
|
|
|
NM_014956.5(CEP164):c.1452C>T (p.Pro484=)
|
rs373736623
|
|
|
NM_014956.5(CEP164):c.1608T>C (p.Cys536=)
|
rs750310170
|
|
|
NM_014956.5(CEP164):c.2466T>C (p.Ser822=)
|
rs563608251
|
|
|
NM_014956.5(CEP164):c.3216+20_3216+33del
|
rs200103555
|
|
|
NM_014956.5(CEP164):c.333G>A (p.Lys111=)
|
rs568554283
|
|
|
NM_014956.5(CEP164):c.3708T>C (p.Ser1236=)
|
rs1457505922
|
|
|
NM_014956.5(CEP164):c.380C>T (p.Pro127Leu)
|
rs143659874
|
|
|
NM_014956.5(CEP164):c.381C>A (p.Pro127=)
|
rs375951540
|
|
|
NM_014956.5(CEP164):c.552+14C>G
|
rs754626177
|
|
|
NM_014956.5(CEP164):c.688-7T>C
|
rs539939395
|
|
|
NM_014956.5(CEP164):c.765+8C>T
|
rs2041253275
|
|
|
NM_014967.5(FAN1):c.2271G>A (p.Pro757=)
|
rs60719098
|
|
|
NM_014991.6(WDFY3):c.3487+8dup
|
rs139234296
|
|
|
NM_015001.3(SPEN):c.5567A>G (p.Asn1856Ser)
|
rs113470169
|
|
|
NM_015102.5(NPHP4):c.1119+18G>A
|
rs1172328337
|
|
|
NM_015102.5(NPHP4):c.136-4del
|
rs143323188
|
|
|
NM_015102.5(NPHP4):c.3144C>T (p.Ala1048=)
|
rs540738356
|
|
|
NM_015102.5(NPHP4):c.3231+7dup
|
rs2100617783
|
|
|
NM_015102.5(NPHP4):c.3232-10del
|
rs757249675
|
|
|
NM_015102.5(NPHP4):c.3741C>A (p.Arg1247=)
|
rs890957347
|
|
|
NM_015102.5(NPHP4):c.674-10A>G
|
rs1031299307
|
|
|
NM_015141.4(GPD1L):c.367-11_367-10delinsAT
|
rs1575115586
|
|
|
NM_015158.5(KANK1):c.1287A>C (p.Thr429=)
|
rs142442062
|
|
|
NM_015272.5(RPGRIP1L):c.1120C>T (p.His374Tyr)
|
rs200773352
|
|
|
NM_015272.5(RPGRIP1L):c.1699+14G>T
|
rs188075133
|
|
|
NM_015272.5(RPGRIP1L):c.1938C>T (p.Pro646=)
|
rs745879566
|
|
|
NM_015272.5(RPGRIP1L):c.1971C>T (p.Phe657=)
|
rs138669723
|
|
|
NM_015272.5(RPGRIP1L):c.206G>A (p.Arg69His)
|
rs574091991
|
|
|
NM_015272.5(RPGRIP1L):c.2349T>C (p.Asp783=)
|
rs1966518935
|
|
|
NM_015272.5(RPGRIP1L):c.237C>T (p.Ala79=)
|
rs1970448329
|
|
|
NM_015272.5(RPGRIP1L):c.2523T>C (p.His841=)
|
rs1598310040
|
|
|
NM_015272.5(RPGRIP1L):c.2865A>G (p.Thr955=)
|
rs2151058712
|
|
|
NM_015272.5(RPGRIP1L):c.999T>G (p.Ser333=)
|
rs1022259426
|
|
|
NM_015311.3(OBSL1):c.2577_2578delinsTT (p.Pro860Ser)
|
rs2106073376
|
|
|
NM_015335.5(MED13L):c.2012+10CT[2]
|
rs564143152
|
|
|
NM_015335.5(MED13L):c.2013-29dup
|
rs542425590
|
|
|
NM_015338.6(ASXL1):c.57+19G>A
|
rs200198574
|
|
|
NM_015346.4(ZFYVE26):c.7350G>A (p.Ala2450=)
|
rs370775301
|
|
|
NM_015443.4(KANSL1):c.1839T>C (p.Leu613=)
|
rs1598526728
|
|
|
NM_015443.4(KANSL1):c.2256C>T (p.Asp752=)
|
rs760224197
|
|
|
NM_015443.4(KANSL1):c.607G>T (p.Gly203Trp)
|
rs138175526
|
|
|
NM_015443.4(KANSL1):c.680G>A (p.Ser227Asn)
|
rs150345690
|
|
|
NM_015443.4(KANSL1):c.773_774inv (p.Leu258Ser)
|
|
|
|
NM_015506.3(MMACHC):c.259C>T (p.Leu87=)
|
rs776402014
|
|
|
NM_015506.3(MMACHC):c.277-4C>A
|
rs199889403
|
|
|
NM_015506.3(MMACHC):c.615C>T (p.Tyr205=)
|
rs747527726
|
|
|
NM_015506.3(MMACHC):c.651A>G (p.Glu217=)
|
rs948189041
|
|
|
NM_015506.3(MMACHC):c.729T>C (p.Pro243=)
|
rs891106099
|
|
|
NM_015506.3(MMACHC):c.801G>A (p.Arg267=)
|
rs751017212
|
|
|
NM_015570.4(AUTS2):c.3377ACC[7] (p.His1133del)
|
rs538005366
|
|
|
NM_015602.4(TOR1AIP1):c.964+1G>A
|
rs2274955
|
|
|
NM_015627.3(LDLRAP1):c.114G>A (p.Thr38=)
|
rs138908999
|
|
|
NM_015627.3(LDLRAP1):c.801A>G (p.Thr267=)
|
rs374704070
|
|
|
NM_015662.3(IFT172):c.1525-6C>G
|
rs201231401
|
|
|
NM_015662.3(IFT172):c.184-23dup
|
rs747166252
|
|
|
NM_015662.3(IFT172):c.3663G>A (p.Gly1221=)
|
rs892273103
|
|
|
NM_015662.3(IFT172):c.4107C>T (p.Ile1369=)
|
rs747023555
|
|
|
NM_015662.3(IFT172):c.4116G>A (p.Glu1372=)
|
rs758268726
|
|
|
NM_015662.3(IFT172):c.4387T>C (p.Leu1463=)
|
rs1455837031
|
|
|
NM_015662.3(IFT172):c.4593C>G (p.Phe1531Leu)
|
rs540171862
|
|
|
NM_015662.3(IFT172):c.4812C>G (p.Thr1604=)
|
rs369400518
|
|
|
NM_015693.4(INTU):c.1450-9T>G
|
rs73847044
|
|
|
NM_015693.4(INTU):c.683-16G>C
|
rs56223823
|
|
|
NM_015697.9(COQ2):c.64A>T (p.Arg22Ter)
|
rs112033303
|
|
|
NM_015713.5(RRM2B):c.534T>C (p.Asp178=)
|
rs1810881397
|
|
|
NM_015910.7(WDPCP):c.123G>A (p.Leu41=)
|
rs779322047
|
|
|
NM_015910.7(WDPCP):c.1625-12T>G
|
rs1014640074
|
|
|
NM_015910.7(WDPCP):c.633+17A>T
|
rs373456348
|
|
|
NM_015922.3(NSDHL):c.268-15dup
|
rs782031217
|
|
|
NM_016203.4(PRKAG2):c.1106+19del
|
rs374874465
|
|
|
NM_016335.6(PRODH):c.270G>A (p.Glu90=)
|
rs562699700
|
|
|
NM_016335.6(PRODH):c.54C>T (p.Val18=)
|
rs1032634465
|
|
|
NM_016335.6(PRODH):c.87G>A (p.Gln29=)
|
rs1417739533
|
|
|
NM_016335.6(PRODH):c.90C>T (p.Pro30=)
|
rs2146224247
|
|
|
NM_016335.6(PRODH):c.930-15C>T
|
rs201272622
|
|
|
NM_016341.4(PLCE1):c.1185G>A (p.Leu395=)
|
rs762259865
|
|
|
NM_016341.4(PLCE1):c.5168-6G>C
|
rs148239915
|
|
|
NM_016356.5(DCDC2):c.349-16dup
|
rs746353912
|
|
|
NM_016599.5(MYOZ2):c.-15+11dup
|
rs58371596
|
|
|
NM_016653.3(MAP3K20):c.1360-14_1360-9del
|
rs150855284
|
|
|
NM_017570.5(OPLAH):c.3721-16C>G
|
rs566592895
|
|
|
NM_017570.5(OPLAH):c.3721-20_3721-18del
|
rs782715961
|
|
|
NM_017570.5(OPLAH):c.960G>T (p.Thr320=)
|
rs375010602
|
|
|
NM_017617.5(NOTCH1):c.1266C>A (p.Pro422=)
|
rs762533002
|
|
|
NM_017635.5(KMT5B):c.309-5_309-2del
|
rs779089106
|
|
|
NM_017636.4(TRPM4):c.3329-8C>G
|
rs369748756
|
|
|
NM_017654.4(SAMD9):c.1812A>G (p.Gln604=)
|
rs181767582
|
|
|
NM_017654.4(SAMD9):c.3651dup (p.Asp1218Ter)
|
rs199887936
|
|
|
NM_017662.5(TRPM6):c.1224G>A (p.Ala408=)
|
rs141597109
|
|
|
NM_017780.4(CHD7):c.2377-17C>T
|
rs1586352662
|
|
|
NM_017780.4(CHD7):c.2787C>T (p.Ile929=)
|
rs771367272
|
|
|
NM_017780.4(CHD7):c.2835+18G>C
|
rs143580627
|
|
|
NM_017780.4(CHD7):c.3522+20T>G
|
rs577146364
|
|
|
NM_017780.4(CHD7):c.4170C>T (p.Pro1390=)
|
rs907362259
|
|
|
NM_017780.4(CHD7):c.4182C>G (p.Leu1394=)
|
rs375867019
|
|
|
NM_017780.4(CHD7):c.6924G>A (p.Ser2308=)
|
rs61733338
|
|
|
NM_017780.4(CHD7):c.6924G>C (p.Ser2308=)
|
rs61733338
|
|
|
NM_017780.4(CHD7):c.8187C>T (p.Ala2729=)
|
rs1806178855
|
|
|
NM_017780.4(CHD7):c.831G>C (p.Pro277=)
|
rs775415630
|
|
|
NM_017780.4(CHD7):c.8477A>G (p.Asn2826Ser)
|
rs370129047
|
|
|
NM_017882.3(CLN6):c.717C>T (p.Phe239=)
|
rs745850620
|
|
|
NM_017947.4(MOCOS):c.1182G>A (p.Val394=)
|
rs770827269
|
|
|
NM_017947.4(MOCOS):c.142+16_142+19dup
|
rs780090086
|
|
|
NM_017947.4(MOCOS):c.462C>T (p.Ser154=)
|
rs373748036
|
|
|
NM_018006.5(TRMU):c.27C>T (p.Cys9=)
|
rs1297282365
|
|
|
NM_018026.4(PACS1):c.110_133dup (p.Gln37_Gln44dup)
|
rs756417166
|
|
|
NM_018027.5(FRMD4A):c.2651GCG[6] (p.Gly888dup)
|
rs536647518
|
|
|
NM_018060.4(IARS2):c.1328-5dup
|
rs199649609
|
|
|
NM_018062.4(FANCL):c.472-15A>G
|
rs374750427
|
|
|
NM_018122.5(DARS2):c.228-10dup
|
rs374122386
|
|
|
NM_018206.6(VPS35):c.915-16T>G
|
rs757051230
|
|
|
NM_018417.6(ADCY10):c.2308+11C>T
|
rs79898706
|
|
|
NM_018417.6(ADCY10):c.254-19dup
|
rs746507234
|
|
|
NM_018417.6(ADCY10):c.4815C>T (p.Thr1605=)
|
rs146952021
|
|
|
NM_018669.6(WDR4):c.33G>A (p.Gly11=)
|
rs138295040
|
|
|
NM_018719.5(CDCA7L):c.*1334G>A
|
rs141951506
|
|
|
NM_018979.4(WNK1):c.1776G>A (p.Gln592=)
|
rs747700724
|
|
|
NM_018979.4(WNK1):c.2658G>C (p.Pro886=)
|
rs200965163
|
|
|
NM_018979.4(WNK1):c.3081C>T (p.Pro1027=)
|
rs150212942
|
|
|
NM_018979.4(WNK1):c.3845-14G>A
|
rs368270119
|
|
|
NM_018979.4(WNK1):c.48G>T (p.Leu16=)
|
rs368453008
|
|
|
NM_018979.4(WNK1):c.5542_5550del (p.Thr1848_Ser1850del)
|
rs544395150
|
|
|
NM_018979.4(WNK1):c.5727G>A (p.Pro1909=)
|
rs763247767
|
|
|
NM_018979.4(WNK1):c.5742C>A (p.Ile1914=)
|
rs1391710406
|
|
|
NM_018979.4(WNK1):c.6624C>T (p.Ser2208=)
|
rs72650768
|
|
|
NM_019032.6(ADAMTSL4):c.2560-14CTC[2]
|
rs373643644
|
|
|
NM_019066.5(MAGEL2):c.2611_2612delinsTT (p.Ala871Phe)
|
rs386781907
|
|
|
NM_019109.5(ALG1):c.1140G>A (p.Val380=)
|
rs2142725780
|
|
|
NM_019109.5(ALG1):c.39G>A (p.Leu13=)
|
rs751409028
|
|
|
NM_019109.5(ALG1):c.630-19C>T
|
rs371014838
|
|
|
NM_019109.5(ALG1):c.741-13del
|
rs749328532
|
|
|
NM_019109.5(ALG1):c.801C>T (p.Ser267=)
|
rs770104406
|
|
|
NM_019109.5(ALG1):c.961+8C>G
|
rs371353008
|
|
|
NM_019892.6(INPP5E):c.813-9C>T
|
rs771055995
|
|
|
NM_020041.3(SLC2A9):c.1114-29CT[8]
|
rs141838570
|
|
|
NM_020066.5(FMN2):c.3324TCC[1] (p.Pro1112del)
|
rs780903069
|
|
|
NM_020070.4(IGLL1):c.520_521delinsAT (p.Ala174Met)
|
rs1555903974
|
|
|
NM_020223.4(FAM20C):c.784+19A>T
|
rs192542992
|
|
|
NM_020297.4(ABCC9):c.4450-6_4450-5del
|
rs4148680
|
|
|
NM_020347.4(LZTFL1):c.128+13del
|
rs750701550
|
|
|
NM_020381.4(PDSS2):c.1134C>T (p.Ser378=)
|
rs543231659
|
|
|
NM_020408.6(LYRM4):c.-11_-10dup
|
rs561083109
|
|
|
NM_020436.5(SALL4):c.1779G>T (p.Pro593=)
|
rs147254025
|
|
|
NM_020436.5(SALL4):c.411C>G (p.Gly137=)
|
rs201560082
|
|
|
NM_020436.5(SALL4):c.762C>T (p.Ala254=)
|
rs141546409
|
|
|
NM_020632.3(ATP6V0A4):c.640-29dup
|
rs72044473
|
|
|
NM_020638.3(FGF23):c.315+15del
|
rs771309899
|
|
|
NM_020638.3(FGF23):c.555G>A (p.Ser185=)
|
rs115283398
|
|
|
NM_020686.6(ABAT):c.540+14CA[10]
|
rs35745596
|
|
|
NM_020686.6(ABAT):c.540+14CA[12]
|
rs35745596
|
|
|
NM_020717.5(SHROOM4):c.3414delinsGGAG (p.Glu1151dup)
|
rs886044870
|
|
|
NM_020751.3(COG6):c.*315del
|
rs142947196
|
|
|
NM_020806.5(GPHN):c.1797T>C (p.Asp599=)
|
rs41285476
|
|
|
NM_020812.4(DOCK6):c.2505C>T (p.Tyr835=)
|
rs200378092
|
|
|
NM_020831.6(MRTFA):c.2518-15del
|
rs367823907
|
|
|
NM_020919.4(ALS2):c.2170+19T>C
|
rs2106050526
|
|
|
NM_020928.2(ZSWIM6):c.498A>G (p.Ala166=)
|
rs964738831
|
|
|
NM_020937.4(FANCM):c.4515+14del
|
rs747887646
|
|
|
NM_020937.4(FANCM):c.4686A>G (p.Arg1562=)
|
rs1889498706
|
|
|
NM_020937.4(FANCM):c.4780-4G>C
|
rs1486453187
|
|
|
NM_020937.4(FANCM):c.480C>T (p.Ile160=)
|
rs753171718
|
|
|
NM_020937.4(FANCM):c.682-7del
|
rs759364320
|
|
|
NM_020937.4(FANCM):c.81C>T (p.Ser27=)
|
rs1388168603
|
|
|
NM_020937.4(FANCM):c.876G>A (p.Pro292=)
|
rs150757891
|
|
|
NM_020975.6(RET):c.1230C>G (p.Leu410=)
|
rs995081128
|
|
|
NM_020975.6(RET):c.1311C>T (p.Asn437=)
|
rs1190189942
|
|
|
NM_020975.6(RET):c.1523-7C>T
|
rs567967877
|
|
|
NM_020975.6(RET):c.1617C>A (p.Gly539=)
|
rs1554818648
|
|
|
NM_020975.6(RET):c.1648+14A>G
|
rs1356301733
|
|
|
NM_020975.6(RET):c.186G>A (p.Glu62=)
|
rs1588862529
|
|
|
NM_020975.6(RET):c.2089C>T (p.Leu697=)
|
rs1588874416
|
|
|
NM_020975.6(RET):c.2262G>A (p.Thr754=)
|
rs779080598
|
|
|
NM_020975.6(RET):c.2393-5C>T
|
rs1554819512
|
|
|
NM_020975.6(RET):c.2433C>T (p.Ser811=)
|
rs1290818295
|
|
|
NM_020975.6(RET):c.2487T>C (p.Ser829=)
|
rs2132946081
|
|
|
NM_020975.6(RET):c.2535C>T (p.Ala845=)
|
rs377767425
|
|
|
NM_020975.6(RET):c.2700T>C (p.Tyr900=)
|
rs1185622721
|
|
|
NM_020975.6(RET):c.2985G>A (p.Arg995=)
|
rs1252674267
|
|
|
NM_020975.6(RET):c.31C>T (p.Leu11=)
|
rs587780812
|
|
|
NM_020975.6(RET):c.810C>A (p.Pro270=)
|
rs1160403666
|
|
|
NM_020975.6(RET):c.868-18G>T
|
rs57098408
|
|
|
NM_020975.6(RET):c.921A>G (p.Ser307=)
|
rs748294306
|
|
|
NM_020975.6(RET):c.960C>T (p.Pro320=)
|
rs756761746
|
|
|
NM_021023.6(CFHR3):c.934A>T (p.Ile312Phe)
|
rs73073594
|
|
|
NM_021098.3(CACNA1H):c.1260G>A (p.Thr420=)
|
rs58198225
|
|
|
NM_021098.3(CACNA1H):c.1701C>T (p.Pro567=)
|
rs763608019
|
|
|
NM_021098.3(CACNA1H):c.2058C>T (p.Pro686=)
|
rs2141277940
|
|
|
NM_021098.3(CACNA1H):c.2061C>T (p.Ser687=)
|
rs554718345
|
|
|
NM_021098.3(CACNA1H):c.2153A>G (p.Glu718Gly)
|
rs538923520
|
|
|
NM_021098.3(CACNA1H):c.21C>T (p.Ala7=)
|
rs904297221
|
|
|
NM_021098.3(CACNA1H):c.2454C>T (p.Pro818=)
|
rs545917540
|
|
|
NM_021098.3(CACNA1H):c.2553C>T (p.Gly851=)
|
rs377029056
|
|
|
NM_021098.3(CACNA1H):c.2604C>T (p.Ser868=)
|
rs562148225
|
|
|
NM_021098.3(CACNA1H):c.299+14_299+15inv
|
|
|
|
NM_021098.3(CACNA1H):c.300-5G>A
|
rs748626072
|
|
|
NM_021098.3(CACNA1H):c.3081C>T (p.Ser1027=)
|
rs369351441
|
|
|
NM_021098.3(CACNA1H):c.3154+12C>T
|
rs779364761
|
|
|
NM_021098.3(CACNA1H):c.3745-14G>A
|
rs8056494
|
|
|
NM_021098.3(CACNA1H):c.3804C>T (p.Ser1268=)
|
rs750607074
|
|
|
NM_021098.3(CACNA1H):c.4224-17C>G
|
rs565477632
|
|
|
NM_021098.3(CACNA1H):c.4665C>T (p.Val1555=)
|
rs752944065
|
|
|
NM_021098.3(CACNA1H):c.4803C>G (p.Ala1601=)
|
rs559982155
|
|
|
NM_021098.3(CACNA1H):c.4851C>T (p.His1617=)
|
rs534178272
|
|
|
NM_021098.3(CACNA1H):c.4929+8C>T
|
rs59027578
|
|
|
NM_021098.3(CACNA1H):c.5039+17C>T
|
rs201391366
|
|
|
NM_021098.3(CACNA1H):c.5173+13G>C
|
rs542071111
|
|
|
NM_021098.3(CACNA1H):c.5173+19G>A
|
rs753759563
|
|
|
NM_021098.3(CACNA1H):c.5245-11C>G
|
rs150441087
|
|
|
NM_021098.3(CACNA1H):c.5245-11C>T
|
rs150441087
|
|
|
NM_021098.3(CACNA1H):c.5324-16G>T
|
rs374872701
|
|
|
NM_021098.3(CACNA1H):c.5367C>T (p.Ala1789=)
|
rs868670809
|
|
|
NM_021098.3(CACNA1H):c.537C>T (p.Val179=)
|
rs368785828
|
|
|
NM_021098.3(CACNA1H):c.5655G>T (p.Ala1885=)
|
rs58632975
|
|
|
NM_021098.3(CACNA1H):c.6048+17del
|
rs3833845
|
|
|
NM_021098.3(CACNA1H):c.6621C>G (p.Ser2207=)
|
rs371375487
|
|
|
NM_021098.3(CACNA1H):c.6621C>T (p.Ser2207=)
|
rs371375487
|
|
|
NM_021098.3(CACNA1H):c.6720C>T (p.Ala2240=)
|
rs375725132
|
|
|
NM_021098.3(CACNA1H):c.6858C>T (p.His2286=)
|
rs1468998569
|
|
|
NM_021098.3(CACNA1H):c.864G>A (p.Pro288=)
|
rs369201438
|
|
|
NM_021098.3(CACNA1H):c.999A>G (p.Ala333=)
|
rs529471626
|
|
|
NM_021116.4(ADCY1):c.1789C>T (p.Arg597Trp)
|
rs142005939
|
|
|
NM_021922.3(FANCE):c.733GGA[1] (p.Gly246del)
|
rs45451605
|
|
|
NM_022042.4(SLC26A1):c.1686G>A (p.Thr562=)
|
rs199549367
|
|
|
NM_022042.4(SLC26A1):c.577-15G>A
|
rs192314032
|
|
|
NM_022089.4(ATP13A2):c.2151C>T (p.Ser717=)
|
rs544545629
|
|
|
NM_022124.6(CDH23):c.5130C>T (p.Ile1710=)
|
rs111033487
|
|
|
NM_022124.6(CDH23):c.7113C>T (p.Thr2371=)
|
rs747544364
|
|
|
NM_022124.6(CDH23):c.8120_8121delinsTT (p.Pro2707Leu)
|
rs876657422
|
|
|
NM_022124.6(CDH23):c.8121G>T (p.Pro2707=)
|
rs377535432
|
|
|
NM_022124.6(CDH23):c.8229C>T (p.Arg2743=)
|
rs372996083
|
|
|
NM_022124.6(CDH23):c.9885C>T (p.Thr3295=)
|
rs1382062973
|
|
|
NM_022168.4(IFIH1):c.2020_2023del (p.Arg674fs)
|
rs569337014
|
|
|
NM_022168.4(IFIH1):c.875-11A>C
|
rs186664431
|
|
|
NM_022356.4(P3H1):c.2055+13C>G
|
rs76628300
|
|
|
NM_022455.5(NSD1):c.6259-4G>T
|
rs764710462
|
|
|
NM_022455.5(NSD1):c.7809C>T (p.Leu2603=)
|
rs769301382
|
|
|
NM_022489.4(INF2):c.1950-10C>A
|
rs199987321
|
|
|
NM_022489.4(INF2):c.1950-20C>T
|
rs370726873
|
|
|
NM_022489.4(INF2):c.2310+12del
|
rs752651194
|
|
|
NM_022489.4(INF2):c.2625C>G (p.Ala875=)
|
rs377398103
|
|
|
NM_022489.4(INF2):c.3207A>C (p.Pro1069=)
|
rs1128840
|
|
|
NM_022489.4(INF2):c.3207A>G (p.Pro1069=)
|
rs1128840
|
|
|
NM_022489.4(INF2):c.3342C>G (p.Leu1114=)
|
rs777623201
|
|
|
NM_022489.4(INF2):c.3694+12_3694+15del
|
rs766461452
|
|
|
NM_022489.4(INF2):c.392-13_392-9dup
|
rs775575983
|
|
|
NM_022765.4(MICAL1):c.2044del (p.Pro681_Leu682insTer)
|
rs553320791
|
|
|
NM_023110.3(FGFR1):c.2187-19C>T
|
rs376583717
|
|
|
NM_023110.3(FGFR1):c.381TGA[5] (p.Asp133del)
|
rs138489552
|
|
|
NM_024079.5(ALG8):c.1443C>G (p.Thr481=)
|
rs746756065
|
|
|
NM_024296.5(CCDC28B):c.462G>A (p.Glu154=)
|
rs6697820
|
|
|
NM_024298.5(MBOAT7):c.-1587C>G
|
rs145947907
|
|
|
NM_024301.5(FKRP):c.168C>T (p.Phe56=)
|
rs1443120812
|
|
|
NM_024301.5(FKRP):c.558C>A (p.Pro186=)
|
rs1266858563
|
|
|
NM_024312.5(GNPTAB):c.3198G>A (p.Thr1066=)
|
rs1952969149
|
|
|
NM_024312.5(GNPTAB):c.771+7A>C
|
rs375495503
|
|
|
NM_024334.3(TMEM43):c.265G>A (p.Val89Met)
|
rs147319971
|
|
|
NM_024408.4(NOTCH2):c.3523-15_3523-13del
|
rs782523879
|
|
|
NM_024408.4(NOTCH2):c.4665T>C (p.Pro1555=)
|
rs587722015
|
|
|
NM_024408.4(NOTCH2):c.4999G>A (p.Val1667Ile)
|
rs17024517
|
|
|
NM_024408.4(NOTCH2):c.7326C>T (p.Ser2442=)
|
rs2101141240
|
|
|
NM_024422.6(DSC2):c.1350A>G (p.Arg450=)
|
rs144242114
|
|
|
NM_024422.6(DSC2):c.2686_2687dup (p.Ala897fs)
|
rs200056085
|
|
|
NM_024426.6(WT1):c.1448-10G>A
|
rs185744719
|
|
|
NM_024426.6(WT1):c.543C>T (p.Arg181=)
|
rs369870529
|
|
|
NM_024426.6(WT1):c.662-10G>T
|
rs1554945255
|
|
|
NM_024426.6(WT1):c.708G>A (p.Thr236=)
|
rs768828897
|
|
|
NM_024426.6(WT1):c.764T>A (p.Met255Lys)
|
rs377573993
|
|
|
NM_024426.6(WT1):c.780G>A (p.Ser260=)
|
rs1403311573
|
|
|
NM_024514.5(CYP2R1):c.309C>T (p.Ser103=)
|
rs111824082
|
|
|
NM_024529.5(CDC73):c.132-17T>G
|
rs2103113863
|
|
|
NM_024529.5(CDC73):c.829-5dup
|
rs755393679
|
|
|
NM_024529.5(CDC73):c.908-6del
|
rs563805986
|
|
|
NM_024596.5(MCPH1):c.2215-19_2215-18delinsGC
|
rs2129580718
|
|
|
NM_024649.5(BBS1):c.830+12del
|
rs1343720111
|
|
|
NM_024675.4(PALB2):c.108+7_108+8delinsAT
|
rs2142459585
|
|
|
NM_024675.4(PALB2):c.1482T>C (p.Thr494=)
|
rs2142414557
|
|
|
NM_024675.4(PALB2):c.168T>C (p.Asp56=)
|
rs1203135643
|
|
|
NM_024675.4(PALB2):c.1881G>T (p.Val627=)
|
rs139362268
|
|
|
NM_024675.4(PALB2):c.18G>A (p.Gly6=)
|
rs587782462
|
|
|
NM_024675.4(PALB2):c.212-24TA[4]
|
rs751741705
|
|
|
NM_024675.4(PALB2):c.2424A>C (p.Gly808=)
|
rs1060504714
|
|
|
NM_024675.4(PALB2):c.2834+13C>G
|
rs551516577
|
|
|
NM_024675.4(PALB2):c.3204G>T (p.Gly1068=)
|
rs786203475
|
|
|
NM_024685.4(BBS10):c.1074G>T (p.Ser358=)
|
rs551803123
|
|
|
NM_024685.4(BBS10):c.1684T>C (p.Leu562=)
|
rs111773727
|
|
|
NM_024685.4(BBS10):c.648C>T (p.Asp216=)
|
rs748037727
|
|
|
NM_024753.5(TTC21B):c.3874-13_3874-10del
|
rs763460455
|
|
|
NM_024753.5(TTC21B):c.553-13del
|
rs749999474
|
|
|
NM_024876.4(COQ8B):c.1210-10G>A
|
rs77801349
|
|
|
NM_025074.7(FRAS1):c.2313G>A (p.Pro771=)
|
rs396790
|
|
|
NM_025074.7(FRAS1):c.4969+19A>T
|
rs73831318
|
|
|
NM_025074.7(FRAS1):c.7029+9A>C
|
rs188606284
|
|
|
NM_025114.4(CEP290):c.251-11del
|
rs752284551
|
|
|
NM_025114.4(CEP290):c.2697A>G (p.Gln899=)
|
rs770769486
|
|
|
NM_025114.4(CEP290):c.4095A>G (p.Leu1365=)
|
rs1006145739
|
|
|
NM_025114.4(CEP290):c.442-23_442-20del
|
rs746139755
|
|
|
NM_025114.4(CEP290):c.4578G>A (p.Glu1526=)
|
rs775294433
|
|
|
NM_025114.4(CEP290):c.4599C>T (p.His1533=)
|
rs932264519
|
|
|
NM_025114.4(CEP290):c.4705-7A>G
|
rs1367159797
|
|
|
NM_025114.4(CEP290):c.5013-30CA[5]
|
rs759447937
|
|
|
NM_025114.4(CEP290):c.5227-23dup
|
rs747878752
|
|
|
NM_025114.4(CEP290):c.6135+10T>C
|
rs371097588
|
|
|
NM_025114.4(CEP290):c.6523-17_6523-15del
|
rs751359519
|
|
|
NM_025114.4(CEP290):c.670-13_670-12del
|
rs941686794
|
|
|
NM_025114.4(CEP290):c.7129+8A>G
|
rs2136623486
|
|
|
NM_025114.4(CEP290):c.99C>T (p.Ser33=)
|
rs866917306
|
|
|
NM_025132.4(WDR19):c.1791T>C (p.Ile597=)
|
rs2109358310
|
|
|
NM_025132.4(WDR19):c.2364-4del
|
rs750106753
|
|
|
NM_025132.4(WDR19):c.2646-16G>T
|
rs750485530
|
|
|
NM_025132.4(WDR19):c.2876+10T>A
|
rs773692164
|
|
|
NM_025132.4(WDR19):c.3951T>C (p.Cys1317=)
|
rs564992065
|
|
|
NM_025132.4(WDR19):c.513G>T (p.Thr171=)
|
rs754543019
|
|
|
NM_025132.4(WDR19):c.6+6_6+8del
|
rs748952637
|
|
|
NM_025137.4(SPG11):c.1347_1348inv (p.Ile450Val)
|
|
|
|
NM_025150.5(TARS2):c.1719-17C>A
|
rs201218331
|
|
|
NM_025215.6(PUS1):c.545-5C>A
|
rs376656565
|
|
|
NM_025216.3(WNT10A):c.1003G>A (p.Asp335Asn)
|
rs545956598
|
|
|
NM_030665.4(RAI1):c.3731GCA[3] (p.Ser1247_Ser1249del)
|
rs760919336
|
|
|
NM_030667.3(PTPRO):c.612C>T (p.Thr204=)
|
rs139561990
|
|
|
NM_030761.5(WNT4):c.897G>T (p.Thr299=)
|
rs139205770
|
|
|
NM_030930.4(UNC93B1):c.1724_1725delinsAG (p.Pro575Gln)
|
rs1554984685
|
|
|
NM_030943.4(AMN):c.1152C>T (p.Arg384=)
|
rs763597496
|
|
|
NM_030943.4(AMN):c.1257+20dup
|
rs759269975
|
|
|
NM_030973.4(MED25):c.633A>T (p.Thr211=)
|
rs369117035
|
|
|
NM_031157.4(HNRNPA1):c.491-3dup
|
rs202119045
|
|
|
NM_031475.3(ESPN):c.1803GCC[5] (p.Pro605dup)
|
rs761087054
|
|
|
NM_031885.5(BBS2):c.117+7G>A
|
rs780862523
|
|
|
NM_031885.5(BBS2):c.1413A>G (p.Val471=)
|
rs35294865
|
|
|
NM_031885.5(BBS2):c.1845T>C (p.Ala615=)
|
rs1964133464
|
|
|
NM_031885.5(BBS2):c.2059+12_2059+13del
|
rs746917866
|
|
|
NM_031885.5(BBS2):c.216C>T (p.Asn72=)
|
rs375853147
|
|
|
NM_031885.5(BBS2):c.342A>G (p.Arg114=)
|
rs2144192731
|
|
|
NM_031885.5(BBS2):c.941-8C>G
|
rs373354290
|
|
|
NM_031924.8(RSPH3):c.992A>G (p.His331Arg)
|
rs78116655
|
|
|
NM_031935.3(HMCN1):c.14266+19_14266+22del
|
rs770465309
|
|
|
NM_032043.3(BRIP1):c.2905+17C>A
|
rs1458780264
|
|
|
NM_032043.3(BRIP1):c.3585G>A (p.Leu1195=)
|
rs2061301182
|
|
|
NM_032108.4(SEMA6B):c.1074C>A (p.Pro358=)
|
rs10422855
|
|
|
NM_032119.4(ADGRV1):c.11115A>T (p.Ser3705=)
|
rs138029547
|
|
|
NM_032193.3(RNASEH2C):c.-157C>A
|
rs535406222
|
|
|
NM_032193.4(RNASEH2C):c.265AAG[1] (p.Lys90del)
|
rs141875736
|
|
|
NM_032387.5(WNK4):c.1666C>A (p.Pro556Thr)
|
rs56003090
|
|
|
NM_032387.5(WNK4):c.1818G>A (p.Gly606=)
|
rs149633706
|
|
|
NM_032387.5(WNK4):c.204G>A (p.Gly68=)
|
rs200209645
|
|
|
NM_032387.5(WNK4):c.2310A>G (p.Pro770=)
|
rs1597903569
|
|
|
NM_032444.4(SLX4):c.1163+10C>T
|
rs80116508
|
|
|
NM_032444.4(SLX4):c.1227G>A (p.Lys409=)
|
rs534443134
|
|
|
NM_032444.4(SLX4):c.1683+9C>T
|
rs1242929879
|
|
|
NM_032444.4(SLX4):c.3366G>A (p.Pro1122=)
|
rs752209638
|
|
|
NM_032444.4(SLX4):c.420G>A (p.Glu140=)
|
rs753015235
|
|
|
NM_032575.3(GLIS2):c.234C>G (p.Leu78=)
|
rs149312212
|
|
|
NM_032806.6(POMGNT2):c.1385G>T (p.Arg462Leu)
|
rs34083889
|
|
|
NM_032861.4(SERAC1):c.1396A>T (p.Met466Leu)
|
rs115459512
|
|
|
NM_032888.4(COL27A1):c.1135A>T (p.Ile379Phe)
|
rs200179131
|
|
|
NM_033028.5(BBS4):c.1223_1225dup (p.Asn408dup)
|
rs752690768
|
|
|
NM_033028.5(BBS4):c.712-15G>C
|
rs2065814889
|
|
|
NM_033028.5(BBS4):c.943T>C (p.Leu315=)
|
rs1433729329
|
|
|
NM_033056.4(PCDH15):c.5294_5302del (p.Leu1765_Pro1767del)
|
rs557936064
|
|
|
NM_033087.4(ALG2):c.760T>C (p.Leu254=)
|
rs62562374
|
|
|
NM_033100.4(CDHR1):c.2546AGA[2] (p.Lys851del)
|
rs150926842
|
|
|
NM_033109.5(PNPT1):c.1285-4del
|
rs745754666
|
|
|
NM_033380.3(COL4A5):c.1032+17del
|
rs761615270
|
|
|
NM_033380.3(COL4A5):c.1530C>T (p.Phe510=)
|
rs2147809019
|
|
|
NM_033380.3(COL4A5):c.3357C>A (p.Gly1119=)
|
rs773019423
|
|
|
NM_033380.3(COL4A5):c.4247G>A (p.Arg1416His)
|
rs753765957
|
|
|
NM_033380.3(COL4A5):c.4282C>T (p.Arg1428Cys)
|
rs144282156
|
|
|
NM_033380.3(COL4A5):c.892-16del
|
rs775131776
|
|
|
NM_052867.4(NALCN):c.1135-10G>A
|
rs114020374
|
|
|
NM_052867.4(NALCN):c.4104-19dup
|
rs113354194
|
|
|
NM_053013.4(ENO3):c.789G>C (p.Ser263=)
|
rs75748087
|
|
|
NM_053013.4(ENO3):c.789delinsATCC (p.Ser263dup)
|
rs1567672833
|
|
|
NM_053025.4(MYLK):c.4602C>T (p.Ile1534=)
|
rs578009736
|
|
|
NM_053025.4(MYLK):c.5369-20TCT[2]
|
rs776729239
|
|
|
NM_057176.3(BSND):c.810C>T (p.Tyr270=)
|
rs1451582678
|
|
|
NM_058216.3(RAD51C):c.404+16C>T
|
rs376465837
|
|
|
NM_058216.3(RAD51C):c.838-20C>G
|
rs766600284
|
|
|
NM_058216.3(RAD51C):c.905-20A>G
|
rs950351911
|
|
|
NM_078480.3(PUF60):c.60GGC[6] (p.Ala25dup)
|
rs540307276
|
|
|
NM_080425.4(GNAS):c.1276G>C (p.Ala426Pro)
|
rs767104257
|
|
|
NM_080425.4(GNAS):c.1428C>G (p.Ala476=)
|
rs559714658
|
|
|
NM_080425.4(GNAS):c.628G>C (p.Ala210Pro)
|
rs61749696
|
|
|
NM_080632.3(UPF3B):c.263+5_263+18dup
|
rs55712755
|
|
|
NM_080632.3(UPF3B):c.263+9_263+18dup
|
rs55712755
|
|
|
NM_133171.5(ELMO2):c.1279+19del
|
rs76979752
|
|
|
NM_133261.3(GIPC3):c.706-3dup
|
rs200925508
|
|
|
NM_133379.5(TTN):c.15285_15317dup (p.5058TLERYSTPPGE[6])
|
rs397517815
|
|
|
NM_133433.4(NIPBL):c.4240-7T>C
|
rs587783943
|
|
|
NM_138694.4(PKHD1):c.10620T>C (p.Asp3540=)
|
rs2150414839
|
|
|
NM_138694.4(PKHD1):c.11811C>G (p.Gly3937=)
|
rs779069598
|
|
|
NM_138694.4(PKHD1):c.11925C>T (p.Ile3975=)
|
rs2150241037
|
|
|
NM_138694.4(PKHD1):c.1386C>T (p.Ala462=)
|
rs1393535530
|
|
|
NM_138694.4(PKHD1):c.1603-14_1603-13del
|
rs748577508
|
|
|
NM_138694.4(PKHD1):c.2934G>A (p.Gln978=)
|
rs536715802
|
|
|
NM_138694.4(PKHD1):c.4191G>A (p.Ser1397=)
|
rs756553815
|
|
|
NM_138694.4(PKHD1):c.449-15TTC[2]
|
rs545812620
|
|
|
NM_138694.4(PKHD1):c.528-9del
|
rs753686281
|
|
|
NM_138694.4(PKHD1):c.5370G>T (p.Leu1790=)
|
rs758616921
|
|
|
NM_138694.4(PKHD1):c.6333-13dup
|
rs138161138
|
|
|
NM_138694.4(PKHD1):c.6333-8_6333-7del
|
rs138161138
|
|
|
NM_138694.4(PKHD1):c.6754C>T (p.Leu2252=)
|
rs900150542
|
|
|
NM_138694.4(PKHD1):c.7734-27_7734-26dup
|
rs201176305
|
|
|
NM_138694.4(PKHD1):c.8673C>T (p.Arg2891=)
|
rs116098879
|
|
|
NM_139027.6(ADAMTS13):c.1309-20C>G
|
rs2130845090
|
|
|
NM_139281.3(WDR36):c.1717-20_1717-19insATATA
|
rs33919278
|
|
|
NM_144585.4(SLC22A12):c.1599-17G>A
|
rs114845820
|
|
|
NM_144596.4(TTC8):c.1464G>A (p.Ala488=)
|
rs142073418
|
|
|
NM_144596.4(TTC8):c.324C>T (p.Ala108=)
|
rs571883979
|
|
|
NM_144670.6(A2ML1):c.1476+8C>T
|
rs75676135
|
|
|
NM_144701.3(IL23R):c.492-9del
|
rs551451479
|
|
|
NM_144773.4(PROKR2):c.1050G>A (p.Leu350=)
|
rs779816527
|
|
|
NM_144773.4(PROKR2):c.525C>A (p.Ala175=)
|
rs3746683
|
|
|
NM_144997.7(FLCN):c.1353T>C (p.Pro451=)
|
rs1597580172
|
|
|
NM_144997.7(FLCN):c.756G>A (p.Ala252=)
|
rs746664975
|
|
|
NM_144997.7(FLCN):c.871+13T>C
|
rs770537219
|
|
|
NM_145239.3(PRRT2):c.647C>A (p.Pro216His)
|
rs76335820
|
|
|
NM_145239.3(PRRT2):c.647C>T (p.Pro216Leu)
|
rs76335820
|
|
|
NM_147127.5(EVC2):c.1711-10del
|
rs35103377
|
|
|
NM_147127.5(EVC2):c.1711-20dup
|
rs35103377
|
|
|
NM_152296.5(ATP1A3):c.1839G>C (p.Thr613=)
|
rs376852509
|
|
|
NM_152384.3(BBS5):c.619-16_619-15del
|
rs762885469
|
|
|
NM_152419.3(HGSNAT):c.576T>C (p.Phe192=)
|
rs1563366828
|
|
|
NM_152618.3(BBS12):c.1917A>G (p.Glu639=)
|
rs2150737890
|
|
|
NM_152618.3(BBS12):c.555C>T (p.Thr185=)
|
rs1800894181
|
|
|
NM_152713.5(STT3A):c.1775-8dup
|
rs750373548
|
|
|
NM_153212.3(GJB4):c.153del (p.Phe51fs)
|
rs139849901
|
|
|
NM_153240.5(NPHP3):c.1068A>G (p.Glu356=)
|
rs1215885580
|
|
|
NM_153240.5(NPHP3):c.2311-6A>G
|
rs769918347
|
|
|
NM_153240.5(NPHP3):c.2884-4C>A
|
rs185913426
|
|
|
NM_153240.5(NPHP3):c.3126-17T>G
|
rs186041429
|
|
|
NM_153240.5(NPHP3):c.3201+11A>G
|
rs1423098134
|
|
|
NM_153252.5(BRWD3):c.814-16dup
|
rs751020595
|
|
|
NM_153676.4(USH1C):c.135C>T (p.Asp45=)
|
rs140319839
|
|
|
NM_153704.6(TMEM67):c.1288+15C>T
|
rs1057523004
|
|
|
NM_153704.6(TMEM67):c.1675-10dup
|
rs752404927
|
|
|
NM_153704.6(TMEM67):c.313-13dup
|
rs367575555
|
|
|
NM_170606.3(KMT2C):c.1038G>A (p.Val346=)
|
rs770240292
|
|
|
NM_170606.3(KMT2C):c.162-7del
|
rs376309362
|
|
|
NM_170606.3(KMT2C):c.7236C>T (p.Pro2412=)
|
rs140215243
|
|
|
NM_170682.4(P2RX2):c.1325_1335del (p.Ile441_Ser442insTer)
|
rs876657423
|
|
|
NM_170707.4(LMNA):c.1381-6C>G
|
rs371635492
|
|
|
NM_170707.4(LMNA):c.1485G>A (p.Val495=)
|
rs1651703234
|
|
|
NM_170707.4(LMNA):c.1659C>T (p.Asp553=)
|
rs748768783
|
|
|
NM_170707.4(LMNA):c.1968+18dup
|
rs554157057
|
|
|
NM_170707.4(LMNA):c.927C>A (p.Leu309=)
|
rs752558753
|
|
|
NM_170784.3(MKKS):c.1162-12del
|
rs781066396
|
|
|
NM_170784.3(MKKS):c.207C>T (p.Val69=)
|
rs1382659817
|
|
|
NM_170784.3(MKKS):c.717C>T (p.Leu239=)
|
rs1214711344
|
|
|
NM_172351.3(CD46):c.286+27del
|
rs371729129
|
|
|
NM_172362.3(KCNH1):c.80-19dup
|
rs56223346
|
|
|
NM_172364.5(CACNA2D4):c.2046C>G (p.Ala682=)
|
rs116214586
|
|
|
NM_173551.5(ANKS6):c.2265G>A (p.Ser755=)
|
rs566372073
|
|
|
NM_173551.5(ANKS6):c.2327-19dup
|
rs575021016
|
|
|
NM_173551.5(ANKS6):c.907+8C>G
|
rs775680028
|
|
|
NM_173630.4(RTTN):c.5319G>C (p.Ala1773=)
|
rs35439940
|
|
|
NM_173842.3(IL1RN):c.300G>A (p.Glu100=)
|
rs776628808
|
|
|
NM_175875.5(SIX5):c.1023C>T (p.Gly341=)
|
rs780345670
|
|
|
NM_175875.5(SIX5):c.1665C>T (p.Ala555=)
|
|
|
|
NM_175875.5(SIX5):c.1773G>T (p.Thr591=)
|
rs138916954
|
|
|
NM_175914.5(HNF4A):c.912C>A (p.Arg304=)
|
rs760811566
|
|
|
NM_176824.3(BBS7):c.1158A>T (p.Thr386=)
|
rs146617227
|
|
|
NM_176824.3(BBS7):c.1231-15dup
|
rs747444432
|
|
|
NM_176824.3(BBS7):c.1372-19C>G
|
rs1725398365
|
|
|
NM_176824.3(BBS7):c.934+17T>C
|
rs1165897878
|
|
|
NM_177438.3(DICER1):c.1510-4del
|
rs546524688
|
|
|
NM_177438.3(DICER1):c.4608T>C (p.Gly1536=)
|
rs1890331241
|
|
|
NM_177924.5(ASAH1):c.667C>T (p.Leu223=)
|
rs371332103
|
|
|
NM_178138.6(LHX3):c.582G>C (p.Thr194=)
|
rs759590430
|
|
|
NM_178170.3(NEK8):c.1071+13G>C
|
rs775567721
|
|
|
NM_178857.6(RP1L1):c.2499G>A (p.Pro833=)
|
rs373310698
|
|
|
NM_178857.6(RP1L1):c.3956_4003del (p.Ala1319_Glu1334del)
|
rs746122572
|
|
|
NM_181426.2(CCDC39):c.1363-13del
|
rs374074877
|
|
|
NM_181503.3(EXOSC8):c.55-10_55-9del
|
rs144158336
|
|
|
NM_182476.3(COQ6):c.164-12dup
|
rs745746077
|
|
|
NM_182758.4(WDR72):c.3149-30CT[13]
|
rs57737580
|
|
|
NM_182914.3(SYNE2):c.16479+15T>G
|
rs80199180
|
|
|
NM_182919.4(TICAM1):c.1078CCT[7] (p.Pro367del)
|
rs11466722
|
|
|
NM_182961.4(SYNE1):c.3837+9G>A
|
rs756594812
|
|
|
NM_198076.6(COX20):c.115T>C (p.Leu39=)
|
rs1573315547
|
|
|
NM_198076.6(COX20):c.24T>C (p.Gly8=)
|
rs915488593
|
|
|
NM_198076.6(COX20):c.7G>T (p.Ala3Ser)
|
rs201152357
|
|
|
NM_198252.3(GSN):c.-9-1942G>A
|
rs1268467289
|
|
|
NM_198252.3(GSN):c.1762+19G>A
|
rs1274106245
|
|
|
NM_198252.3(GSN):c.1762+20del
|
rs895358104
|
|
|
NM_198252.3(GSN):c.1887+11G>T
|
rs147527479
|
|
|
NM_198252.3(GSN):c.886+19G>A
|
rs200255784
|
|
|
NM_198253.3(TERT):c.1110C>G (p.Pro370=)
|
rs1579597009
|
|
|
NM_198282.4(STING1):c.1124G>T (p.Arg375Leu)
|
rs117897081
|
|
|
NM_198428.3(BBS9):c.1790-17T>C
|
rs765367261
|
|
|
NM_198428.3(BBS9):c.195C>A (p.Ala65=)
|
rs373063776
|
|
|
NM_198428.3(BBS9):c.2115+17dup
|
rs1826376756
|
|
|
NM_198428.3(BBS9):c.531C>A (p.Gly177=)
|
rs113518488
|
|
|
NM_198428.3(BBS9):c.531C>T (p.Gly177=)
|
rs113518488
|
|
|
NM_198428.3(BBS9):c.702+15dup
|
rs756949696
|
|
|
NM_198525.3(KIF7):c.3345C>G (p.His1115Gln)
|
rs142032413
|
|
|
NM_198525.3(KIF7):c.710G>T (p.Arg237Leu)
|
rs529571444
|
|
|
NM_198578.4(LRRK2):c.2689+19_2689+20dup
|
rs66810434
|
|
|
NM_198578.4(LRRK2):c.2689+20dup
|
rs66810434
|
|
|
NM_198578.4(LRRK2):c.4193G>A (p.Arg1398His)
|
rs7133914
|
|
|
NM_198578.4(LRRK2):c.936G>T (p.Ala312=)
|
rs41286466
|
|
|
NM_201253.3(CRB1):c.2843-3dup
|
rs776525385
|
|
|
NM_201400.4(EEF2KMT):c.*891A>T
|
rs3187779
|
|
|
NM_201596.3(CACNB2):c.1055-7T>C
|
rs201997903
|
|
|
NM_201596.3(CACNB2):c.1670C>T (p.Ser557Leu)
|
rs137886839
|
|
|
NM_206933.4(USH2A):c.12743A>G (p.His4248Arg)
|
rs145830318
|
|
|
NM_207122.2(EXT2):c.519G>C (p.Ala173=)
|
rs148121594
|
|
|
NM_207361.6(FREM2):c.5625C>T (p.Ile1875=)
|
rs202007498
|
|
|
NM_207361.6(FREM2):c.567C>T (p.Val189=)
|
rs370371340
|
|
|
NM_207361.6(FREM2):c.7520-16_7520-15insGT
|
rs1555272871
|
|
|
NM_207361.6(FREM2):c.7520-5del
|
rs36084034
|
|
|
NM_207361.6(FREM2):c.7520-5dup
|
rs36084034
|
|
|
NM_212482.4(FN1):c.1449G>A (p.Gln483=)
|
rs749775069
|
|
|
NM_212482.4(FN1):c.148+16G>A
|
rs367674539
|
|
|
NM_212482.4(FN1):c.1942-38GT[13]
|
rs5838511
|
|
|
NM_212482.4(FN1):c.1942-38GT[14]
|
rs5838511
|
|
|
NM_212482.4(FN1):c.2518+12G>C
|
rs7570208
|
|
|
NM_212482.4(FN1):c.2967G>C (p.Leu989=)
|
rs372040503
|
|
|
NM_212482.4(FN1):c.5964C>T (p.Ile1988=)
|
rs143393843
|
|
|
NM_212482.4(FN1):c.6507G>A (p.Pro2169=)
|
rs145436721
|
|
|
NM_212482.4(FN1):c.6634A>G (p.Ile2212Val)
|
rs17449032
|
|
|
NM_212482.4(FN1):c.7363-20del
|
rs752005289
|
|
|
NM_213655.5(WNK1):c.2511G>A (p.Pro837=)
|
rs1024009612
|
|
|
NM_213655.5(WNK1):c.2701A>T (p.Ile901Leu)
|
rs142624740
|
|
|
NR_003051.3(RMRP):n.-24A>G
|
rs529852688
|
|