NM_000372.5(TYR):c.1205G>A (p.Arg402Gln)
|
rs1126809
|
0.18094
|
NM_014694.4(ADAMTSL2):c.1641C>T (p.His547=)
|
rs7868941
|
0.16167
|
NM_014694.4(ADAMTSL2):c.2022C>T (p.Pro674=)
|
rs534165083
|
0.12965
|
NM_014694.4(ADAMTSL2):c.2613G>A (p.Val871=)
|
rs62637566
|
0.12851
|
NM_213599.3(ANO5):c.*554C>T
|
rs117180492
|
0.02476
|
NM_025137.4(SPG11):c.7023C>T (p.Tyr2341=)
|
rs80338869
|
0.02054
|
NM_213599.3(ANO5):c.*3168C>T
|
rs35892535
|
0.01843
|
NM_144508.5(KNL1):c.2369C>G (p.Thr790Ser)
|
rs33931006
|
0.01841
|
NM_001130987.2(DYSF):c.*53G>A
|
rs114777968
|
0.01775
|
NM_213599.3(ANO5):c.2259A>G (p.Ser753=)
|
rs61746201
|
0.01772
|
NM_017755.5(NSUN2):c.-193G>C
|
rs8192123
|
0.01707
|
NM_017755.5(NSUN2):c.-340C>T
|
rs147269098
|
0.01704
|
NM_001130987.2(DYSF):c.4848G>A (p.Glu1616=)
|
rs62145939
|
0.01642
|
NM_213599.3(ANO5):c.*2095G>A
|
rs142192440
|
0.01610
|
NM_000243.3(MEFV):c.1105C>T (p.Pro369Ser)
|
rs11466023
|
0.01590
|
NM_000525.4(KCNJ11):c.801C>G (p.Leu267=)
|
rs5216
|
0.01521
|
NM_000784.4(CYP27A1):c.1151C>T (p.Pro384Leu)
|
rs41272687
|
0.01478
|
NM_003640.5(ELP1):c.3876T>G (p.Thr1292=)
|
rs61749202
|
0.01463
|
NM_000243.3(MEFV):c.1223G>A (p.Arg408Gln)
|
rs11466024
|
0.01456
|
NM_000520.5(HEXA):c.-167G>A
|
rs77707876
|
0.01456
|
NM_000230.3(LEP):c.*34G>A
|
rs28954114
|
0.01449
|
NM_017755.5(NSUN2):c.-189C>A
|
rs8192122
|
0.01396
|
NM_213599.3(ANO5):c.*3155T>C
|
rs78929863
|
0.01340
|
NM_016203.3(PRKAG2):c.-520C>T
|
rs73160072
|
0.01266
|
NM_213599.3(ANO5):c.*1328C>T
|
rs78089375
|
0.01250
|
NM_213599.3(ANO5):c.-261A>C
|
rs114897158
|
0.01250
|
NM_213599.3(ANO5):c.*1661C>T
|
rs12284506
|
0.01249
|
NM_000070.3(CAPN3):c.-104G>C
|
rs149698681
|
0.01241
|
NM_018082.5(POLR3B):c.-173C>T
|
rs73186443
|
0.01232
|
NM_000112.4(SLC26A2):c.*4799G>A
|
rs72832119
|
0.01211
|
NM_213599.3(ANO5):c.*930C>T
|
rs78428314
|
0.01204
|
NM_001384474.1(LOXHD1):c.2080G>T (p.Asp694Tyr)
|
rs35727744
|
0.01194
|
NM_000070.3(CAPN3):c.62G>A (p.Gly21Glu)
|
rs28364364
|
0.01193
|
NM_002693.3(POLG):c.3644-99C>T
|
rs3176241
|
0.01180
|
NM_000359.3(TGM1):c.1552G>A (p.Val518Met)
|
rs35312232
|
0.01146
|
NM_000232.5(SGCB):c.*1105A>G
|
rs77404139
|
0.01061
|
NM_000271.5(NPC1):c.709C>T (p.Pro237Ser)
|
rs80358251
|
0.01055
|
NM_000410.4(HFE):c.193A>T (p.Ser65Cys)
|
rs1800730
|
0.01042
|
NM_000243.3(MEFV):c.1772T>C (p.Ile591Thr)
|
rs11466045
|
0.01021
|
NM_001160372.4(TRAPPC9):c.1869C>T (p.Ser623=)
|
rs117685875
|
0.01001
|
NM_015192.4(PLCB1):c.2191C>G (p.Pro731Ala)
|
rs61755434
|
0.00997
|
NM_017739.4(POMGNT1):c.1666G>A (p.Asp556Asn)
|
rs74374973
|
0.00994
|
NM_213599.3(ANO5):c.1029C>T (p.Asp343=)
|
rs78899595
|
0.00992
|
NM_000525.4(KCNJ11):c.1154C>G (p.Ser385Cys)
|
rs41282930
|
0.00987
|
NM_014363.6(SACS):c.10305T>C (p.Ser3435=)
|
rs35670472
|
0.00986
|
NM_000112.4(SLC26A2):c.*4930C>T
|
rs79521091
|
0.00981
|
NM_014363.6(SACS):c.12762C>T (p.Ser4254=)
|
rs11554397
|
0.00978
|
NM_024809.5(TCTN2):c.599G>A (p.Arg200Gln)
|
rs79251326
|
0.00978
|
NM_000232.5(SGCB):c.*724C>T
|
rs79282232
|
0.00971
|
NM_001384474.1(LOXHD1):c.1742T>C (p.Val581Ala)
|
rs35007621
|
0.00961
|
NM_033100.4(CDHR1):c.240C>T (p.Val80=)
|
rs11593005
|
0.00943
|
NM_000642.3(AGL):c.3619G>A (p.Ala1207Thr)
|
rs11807956
|
0.00940
|
NM_000249.4(MLH1):c.1959G>T (p.Leu653=)
|
rs1800146
|
0.00913
|
NM_006493.4(CLN5):c.579C>A (p.Asn193Lys)
|
rs138611001
|
0.00910
|
NM_000492.4(CFTR):c.2898G>A (p.Thr966=)
|
rs1800109
|
0.00907
|
NM_138694.4(PKHD1):c.3407A>G (p.Tyr1136Cys)
|
rs41273726
|
0.00885
|
NM_000540.3(RYR1):c.12879G>C (p.Ala4293=)
|
rs193922854
|
0.00873
|
NM_004278.4(PIGL):c.*254T>C
|
rs144070256
|
0.00867
|
NM_000243.3(MEFV):c.2118G>A (p.Pro706=)
|
rs2234939
|
0.00864
|
NM_004629.2(FANCG):c.1538G>A (p.Arg513Gln)
|
rs17885240
|
0.00863
|
NM_001042432.2(CLN3):c.*99C>T
|
rs113845299
|
0.00853
|
NM_001160372.4(TRAPPC9):c.1458C>T (p.Phe486=)
|
rs34179337
|
0.00827
|
NM_001457.4(FLNB):c.3724+13_3724+15del
|
rs773897420
|
0.00809
|
NM_014363.6(SACS):c.12649A>G (p.Asn4217Asp)
|
rs35799469
|
0.00804
|
NM_001130987.2(DYSF):c.4621C>T (p.Leu1541=)
|
rs7573406
|
0.00792
|
NM_000350.3(ABCA4):c.3831G>A (p.Thr1277=)
|
rs75092434
|
0.00783
|
NM_025137.4(SPG11):c.6258G>T (p.Leu2086=)
|
rs150761878
|
0.00781
|
NM_000037.4(ANK1):c.*1708G>C
|
rs182454354
|
0.00775
|
NM_016239.4(MYO15A):c.2680C>T (p.Pro894Ser)
|
rs76707172
|
0.00765
|
NM_005138.3(SCO2):c.763C>A (p.Arg255=)
|
rs112793292
|
0.00755
|
NM_001384474.1(LOXHD1):c.4526G>A (p.Gly1509Glu)
|
rs187587197
|
0.00751
|
NM_022356.4(P3H1):c.611C>A (p.Pro204His)
|
rs77208721
|
0.00751
|
NM_000231.3(SGCG):c.-6T>C
|
rs141771521
|
0.00749
|
NM_001130987.2(DYSF):c.1380+6G>C
|
rs75796187
|
0.00745
|
NM_020247.5(COQ8A):c.*349G>A
|
rs113041399
|
0.00729
|
NM_000497.4(CYP11B1):c.243C>T (p.Tyr81=)
|
rs9657022
|
0.00726
|
NM_213599.3(ANO5):c.*3350T>G
|
rs144806967
|
0.00723
|
NM_052945.4(TNFRSF13C):c.191G>T (p.Gly64Val)
|
rs547352394
|
0.00722
|
NM_001384474.1(LOXHD1):c.1028G>A (p.Arg343His)
|
rs183531840
|
0.00717
|
NM_213599.3(ANO5):c.*2357A>T
|
rs151218419
|
0.00715
|
NM_001130987.2(DYSF):c.*107T>A
|
rs11903223
|
0.00707
|
NM_014363.6(SACS):c.4117G>C (p.Ala1373Pro)
|
rs61326562
|
0.00706
|
NM_138694.4(PKHD1):c.8521A>G (p.Met2841Val)
|
rs113562492
|
0.00702
|
NM_006214.4(PHYH):c.734G>A (p.Arg245Gln)
|
rs62619919
|
0.00690
|
NM_006204.4(PDE6C):c.1755G>T (p.Lys585Asn)
|
rs45522236
|
0.00677
|
NM_022124.6(CDH23):c.7762G>C (p.Glu2588Gln)
|
rs41281338
|
0.00677
|
NM_000441.2(SLC26A4):c.15C>A (p.Gly5=)
|
rs7811324
|
0.00669
|
NM_001384474.1(LOXHD1):c.611-15T>C
|
rs146912450
|
0.00662
|
NM_000492.4(CFTR):c.4272C>T (p.Tyr1424=)
|
rs1800135
|
0.00660
|
NM_020247.5(COQ8A):c.*727C>T
|
rs16846762
|
0.00659
|
NM_000019.4(ACAT1):c.941-14C>T
|
rs12801620
|
0.00658
|
NM_016239.4(MYO15A):c.9478C>T (p.Leu3160Phe)
|
rs140029076
|
0.00658
|
NM_018451.5(CENPJ):c.*594_*595dup
|
rs570468323
|
0.00658
|
NM_022124.6(CDH23):c.8980-14C>A
|
rs45522532
|
0.00642
|
NM_001160372.4(TRAPPC9):c.2797G>A (p.Gly933Ser)
|
rs114949291
|
0.00641
|
NM_138694.4(PKHD1):c.4343A>G (p.Glu1448Gly)
|
rs116809571
|
0.00632
|
NM_133259.4(LRPPRC):c.58C>T (p.Leu20Phe)
|
rs184339274
|
0.00631
|
NM_001206744.2(TPO):c.2305C>T (p.Arg769Trp)
|
rs114406277
|
0.00629
|
NM_000492.4(CFTR):c.2002C>T (p.Arg668Cys)
|
rs1800100
|
0.00625
|
NM_001130987.2(DYSF):c.*267C>G
|
rs181677134
|
0.00625
|
NM_000110.4(DPYD):c.557A>G (p.Tyr186Cys)
|
rs115232898
|
0.00622
|
NM_001114134.2(EPB42):c.1767C>A (p.His589Gln)
|
rs114354377
|
0.00619
|
NM_000260.4(MYO7A):c.4461C>T (p.Asn1487=)
|
rs56174006
|
0.00618
|
NM_000081.4(LYST):c.10941-7C>A
|
rs72761794
|
0.00614
|
NM_002234.4(KCNA5):c.1733G>A (p.Arg578Lys)
|
rs12720445
|
0.00612
|
NM_213599.3(ANO5):c.*2869A>G
|
rs115249135
|
0.00608
|
NM_000282.4(PCCA):c.1651G>T (p.Val551Phe)
|
rs61749895
|
0.00606
|
NM_002474.3(MYH11):c.3949C>A (p.Leu1317Ile)
|
rs141159831
|
0.00600
|
NM_000492.4(CFTR):c.3705T>G (p.Ser1235Arg)
|
rs34911792
|
0.00573
|
NM_000492.4(CFTR):c.3285A>T (p.Thr1095=)
|
rs1800118
|
0.00570
|
NM_001195248.2(APTX):c.*187G>C
|
rs113638548
|
0.00570
|
NM_001195248.2(APTX):c.*606G>A
|
rs111430445
|
0.00567
|
NM_015272.5(RPGRIP1L):c.*491C>G
|
rs35669682
|
0.00564
|
NM_015192.4(PLCB1):c.2309-15A>C
|
rs117816042
|
0.00563
|
NM_014363.6(SACS):c.6051G>C (p.Lys2017Asn)
|
rs35865691
|
0.00562
|
NM_000515.5(GH1):c.406G>A (p.Val136Ile)
|
rs5388
|
0.00560
|
NM_006493.4(CLN5):c.*180C>T
|
rs700364
|
0.00556
|
NM_000426.4(LAMA2):c.2476C>T (p.Arg826Trp)
|
rs118147866
|
0.00549
|
NM_017875.4(SLC25A38):c.*431G>A
|
rs73058292
|
0.00540
|
NM_000439.5(PCSK1):c.397-10T>C
|
rs142423997
|
0.00535
|
NM_015272.5(RPGRIP1L):c.*1627G>A
|
rs188203905
|
0.00522
|
NM_006996.3(SLC19A2):c.-114C>T
|
rs145285893
|
0.00519
|
NM_003748.4(ALDH4A1):c.678+3G>A
|
rs138788183
|
0.00516
|
NM_014363.6(SACS):c.1593C>T (p.Ile531=)
|
rs113756713
|
0.00513
|
NM_001160372.4(TRAPPC9):c.3163G>A (p.Val1055Ile)
|
rs35578974
|
0.00512
|
NM_001384474.1(LOXHD1):c.1843C>A (p.Arg615=)
|
rs112463030
|
0.00507
|
NM_014363.6(SACS):c.6781C>A (p.Leu2261Ile)
|
rs146722795
|
0.00506
|
NM_001113378.2(FANCI):c.976-13A>T
|
rs145864790
|
0.00501
|
NM_001160372.4(TRAPPC9):c.3249C>T (p.Phe1083=)
|
rs112551069
|
0.00501
|
NM_001360.3(DHCR7):c.99-10G>A
|
rs189549129
|
0.00495
|
NM_001130987.2(DYSF):c.3946A>G (p.Ile1316Val)
|
rs121908954
|
0.00491
|
NM_000520.5(HEXA):c.-59G>A
|
rs147174351
|
0.00489
|
NM_001242957.3(MAK):c.1715T>C (p.Ile572Thr)
|
rs79544660
|
0.00488
|
NM_022124.6(CDH23):c.5544C>T (p.Asp1848=)
|
rs142131750
|
0.00488
|
NM_000232.5(SGCB):c.*2907T>C
|
rs138349341
|
0.00486
|
NM_004278.4(PIGL):c.424C>A (p.Leu142Met)
|
rs115958467
|
0.00486
|
NM_017739.4(POMGNT1):c.-11G>A
|
rs80107141
|
0.00484
|
NM_000255.4(MMUT):c.1629C>T (p.Ser543=)
|
rs150642856
|
0.00479
|
NM_001130987.2(DYSF):c.2980-15C>T
|
rs148732505
|
0.00477
|
NM_000540.3(RYR1):c.12881C>T (p.Thr4294Met)
|
rs587784372
|
0.00471
|
NM_000037.4(ANK1):c.3399C>T (p.Thr1133=)
|
rs117516263
|
0.00465
|
NM_002693.3(POLG):c.3198G>A (p.Thr1066=)
|
rs61752780
|
0.00460
|
NM_000243.3(MEFV):c.1760-4G>A
|
rs79662406
|
0.00459
|
NM_013342.4(TFPT):c.-350G>T
|
rs45619231
|
0.00456
|
NM_017636.4(TRPM4):c.755G>A (p.Arg252His)
|
rs146564314
|
0.00453
|
NM_014363.6(SACS):c.12597A>G (p.Pro4199=)
|
rs112630127
|
0.00451
|
NM_000179.3(MSH6):c.2633T>C (p.Val878Ala)
|
rs2020912
|
0.00448
|
NM_000350.3(ABCA4):c.*136G>A
|
rs55665437
|
0.00448
|
NM_014363.6(SACS):c.11688G>A (p.Arg3896=)
|
rs116791509
|
0.00448
|
NM_000231.3(SGCG):c.*185G>A
|
rs115918628
|
0.00447
|
NM_213599.3(ANO5):c.*166G>T
|
rs145219772
|
0.00444
|
NM_000051.4(ATM):c.5558A>T (p.Asp1853Val)
|
rs1801673
|
0.00441
|
NM_000081.4(LYST):c.10800+4G>T
|
rs41308172
|
0.00441
|
NM_002863.5(PYGL):c.1145C>T (p.Pro382Leu)
|
rs143759519
|
0.00440
|
NM_000520.6(HEXA):c.673-13T>C
|
rs75211071
|
0.00438
|
NM_001134363.3(RBM20):c.2655+15A>G
|
rs187915202
|
0.00436
|
NM_002693.3(POLG):c.-80C>T
|
rs3087378
|
0.00435
|
NM_002863.5(PYGL):c.1900G>C (p.Asp634His)
|
rs35026927
|
0.00435
|
NM_000051.4(ATM):c.1810C>T (p.Pro604Ser)
|
rs2227922
|
0.00431
|
NM_001164508.2(NEB):c.19455G>A (p.Lys6485=)
|
rs182847302
|
0.00430
|
NM_001130987.2(DYSF):c.4027A>G (p.Ile1343Val)
|
rs145401010
|
0.00428
|
NM_007374.3(SIX6):c.385G>A (p.Glu129Lys)
|
rs146737847
|
0.00428
|
NM_007078.3(LDB3):c.690-4A>G
|
rs45529531
|
0.00427
|
NM_022124.6(CDH23):c.*361C>A
|
rs115033851
|
0.00420
|
NM_007294.4(BRCA1):c.4039A>G (p.Arg1347Gly)
|
rs28897689
|
0.00419
|
NM_000081.4(LYST):c.6482A>C (p.Glu2161Ala)
|
rs147756847
|
0.00416
|
NM_018100.4(EFHC1):c.629A>T (p.Asp210Val)
|
rs73740379
|
0.00408
|
NM_000037.4(ANK1):c.1506C>T (p.Ala502=)
|
rs34387324
|
0.00407
|
NM_012179.4(FBXO7):c.122+9G>A
|
rs192327462
|
0.00407
|
NM_138694.4(PKHD1):c.9415G>T (p.Asp3139Tyr)
|
rs45503297
|
0.00407
|
NM_002529.4(NTRK1):c.2339G>A (p.Arg780Gln)
|
rs35669708
|
0.00406
|
NM_018238.3(AGK):c.-100G>A
|
rs552726046
|
0.00401
|
NM_000214.3(JAG1):c.-384T>G
|
rs559044448
|
0.00399
|
NM_004076.5(CRYBB3):c.38C>G (p.Ala13Gly)
|
rs147831812
|
0.00394
|
NM_019040.5(ELP4):c.*2740G>A
|
rs149777109
|
0.00394
|
NM_001134363.3(RBM20):c.1275+13A>G
|
rs373230569
|
0.00392
|
NM_015192.4(PLCB1):c.1469A>G (p.Tyr490Cys)
|
rs45608240
|
0.00391
|
NM_018389.5(SLC35C1):c.1054C>T (p.Pro352Ser)
|
rs145613857
|
0.00391
|
NM_001122659.3(EDNRB):c.*296A>G
|
rs12720203
|
0.00388
|
NM_018368.3(LMBRD1):c.-276A>G
|
rs148064952
|
0.00387
|
NM_022124.6(CDH23):c.*515C>A
|
rs16929375
|
0.00385
|
NM_000130.5(F5):c.4035A>G (p.Gln1345=)
|
rs886045547
|
0.00377
|
NM_006996.3(SLC19A2):c.561G>T (p.Leu187=)
|
rs150548640
|
0.00374
|
NM_017739.4(POMGNT1):c.*221G>A
|
rs181362801
|
0.00374
|
NM_000430.4(PAFAH1B1):c.*1042_*1043del
|
rs55976318
|
0.00373
|
NM_002529.4(NTRK1):c.16C>T (p.Arg6Trp)
|
rs201472270
|
0.00373
|
NM_001297.5(CNGB1):c.3115G>A (p.Gly1039Arg)
|
rs148999583
|
0.00372
|
NM_138694.4(PKHD1):c.5125C>T (p.Leu1709Phe)
|
rs45517932
|
0.00371
|
NM_000243.3(MEFV):c.42G>A (p.Glu14=)
|
rs113314808
|
0.00369
|
NM_001244008.2(KIF1A):c.3259C>T (p.Pro1087Ser)
|
rs143037290
|
0.00369
|
NM_020366.4(RPGRIP1):c.2878G>C (p.Ala960Pro)
|
rs35810926
|
0.00369
|
NM_033337.3(CAV3):c.*805C>A
|
rs186579720
|
0.00369
|
NM_001384474.1(LOXHD1):c.6034G>A (p.Glu2012Lys)
|
rs79045813
|
0.00367
|
NM_006996.2(SLC19A2):c.-196C>A
|
rs72542444
|
0.00366
|
NM_014336.5(AIPL1):c.267C>T (p.Cys89=)
|
rs62653020
|
0.00366
|
NM_002693.3(POLG):c.803G>C (p.Gly268Ala)
|
rs61752784
|
0.00364
|
NM_032043.3(BRIP1):c.517C>T (p.Arg173Cys)
|
rs4988345
|
0.00363
|
NM_000053.4(ATP7B):c.3369G>A (p.Pro1123=)
|
rs61733679
|
0.00362
|
NM_000135.4(FANCA):c.4249C>G (p.His1417Asp)
|
rs17227403
|
0.00362
|
NM_000350.3(ABCA4):c.5908C>T (p.Leu1970Phe)
|
rs28938473
|
0.00362
|
NM_001384474.1(LOXHD1):c.1945G>A (p.Asp649Asn)
|
rs141932807
|
0.00362
|
NM_000426.4(LAMA2):c.1634T>A (p.Leu545Gln)
|
rs118083923
|
0.00359
|
NM_018075.5(ANO10):c.980A>G (p.Tyr327Cys)
|
rs146569520
|
0.00359
|
NM_000384.3(APOB):c.3383G>A (p.Arg1128His)
|
rs12713843
|
0.00356
|
NM_004004.6(GJB2):c.-6T>A
|
rs148136545
|
0.00355
|
NM_001379180.1(ESRRB):c.*1474T>C
|
rs188462546
|
0.00354
|
NM_001384474.1(LOXHD1):c.1708G>A (p.Asp570Asn)
|
rs140437150
|
0.00354
|
NM_000525.4(KCNJ11):c.-498T>C
|
rs529946415
|
0.00352
|
NM_000335.5(SCN5A):c.1569T>A (p.Arg523=)
|
rs41313693
|
0.00351
|
NM_000519.4(HBD):c.*102G>A
|
rs80018520
|
0.00351
|
NM_000492.4(CFTR):c.220C>T (p.Arg74Trp)
|
rs115545701
|
0.00350
|
NM_000335.5(SCN5A):c.1068T>C (p.Asp356=)
|
rs41313703
|
0.00349
|
NM_000543.5(SMPD1):c.1561C>T (p.Leu521=)
|
rs147258619
|
0.00349
|
NM_003060.4(SLC22A5):c.1463G>A (p.Arg488His)
|
rs28383481
|
0.00347
|
NM_014363.6(SACS):c.171+13C>T
|
rs374672041
|
0.00347
|
NM_022124.6(CDH23):c.2954-14G>A
|
rs191534381
|
0.00347
|
NM_000053.4(ATP7B):c.1607T>C (p.Val536Ala)
|
rs138427376
|
0.00342
|
NM_000243.3(MEFV):c.1467G>A (p.Gln489=)
|
rs61732424
|
0.00341
|
NM_138694.4(PKHD1):c.8581A>G (p.Ser2861Gly)
|
rs150925674
|
0.00340
|
NM_000426.4(LAMA2):c.4487C>T (p.Ala1496Val)
|
rs147077184
|
0.00338
|
NM_001130987.2(DYSF):c.2334C>T (p.Leu778=)
|
rs116204385
|
0.00336
|
NM_001164508.2(NEB):c.5555T>G (p.Met1852Arg)
|
rs144180493
|
0.00336
|
NM_000338.3(SLC12A1):c.347G>A (p.Arg116His)
|
rs34819316
|
0.00334
|
NM_001164508.2(NEB):c.22122C>G (p.Asp7374Glu)
|
rs192402741
|
0.00334
|
NM_181426.2(CCDC39):c.1073C>T (p.Thr358Ile)
|
rs183413880
|
0.00334
|
NM_001142800.2(EYS):c.5510G>C (p.Trp1837Ser)
|
rs199689193
|
0.00333
|
NM_018249.6(CDK5RAP2):c.2655C>G (p.Phe885Leu)
|
rs112600265
|
0.00333
|
NM_014363.6(SACS):c.8339T>G (p.Phe2780Cys)
|
rs111540787
|
0.00332
|
NM_001355436.2(SPTB):c.345T>C (p.Asn115=)
|
rs17180518
|
0.00330
|
NM_000218.3(KCNQ1):c.*717T>G
|
rs189162344
|
0.00329
|
NM_000271.5(NPC1):c.665A>G (p.Asn222Ser)
|
rs55680026
|
0.00329
|
NM_198904.4(GABRG2):c.*348A>G
|
rs192973258
|
0.00328
|
NM_014363.6(SACS):c.13717A>C (p.Asn4573His)
|
rs34382952
|
0.00326
|
NM_000350.3(ABCA4):c.4352+14C>T
|
rs75359153
|
0.00325
|
NM_007374.3(SIX6):c.614T>G (p.Leu205Arg)
|
rs45549246
|
0.00324
|
NM_017668.3(NDE1):c.*286G>A
|
rs558625464
|
0.00322
|
NM_023036.6(DNAI2):c.468-4G>T
|
rs146462823
|
0.00321
|
NM_000527.5(LDLR):c.1920C>T (p.Asn640=)
|
rs5926
|
0.00319
|
NM_001368067.1(LDB3):c.546T>C (p.Ser182=)
|
rs71473272
|
0.00316
|
NM_001384474.1(LOXHD1):c.5802C>A (p.Asn1934Lys)
|
rs61733519
|
0.00316
|
NM_001042432.2(CLN3):c.-129G>C
|
rs141305257
|
0.00315
|
NM_020533.3(MCOLN1):c.782C>T (p.Thr261Met)
|
rs73003348
|
0.00315
|
NM_000053.4(ATP7B):c.3557-6C>T
|
rs140708492
|
0.00314
|
NM_000251.3(MSH2):c.339G>A (p.Lys113=)
|
rs35898375
|
0.00313
|
NM_001065.4(TNFRSF1A):c.-96C>T
|
rs115164694
|
0.00312
|
NM_001164508.2(NEB):c.4649A>G (p.Lys1550Arg)
|
rs114089598
|
0.00312
|
NM_002470.4(MYH3):c.4910C>T (p.Ala1637Val)
|
rs34165480
|
0.00311
|
NM_017636.4(TRPM4):c.3611C>T (p.Pro1204Leu)
|
rs150391806
|
0.00310
|
NM_000350.3(ABCA4):c.6148G>C (p.Val2050Leu)
|
rs41292677
|
0.00308
|
NM_001182.4(ALDH7A1):c.-80T>G
|
rs563928852
|
0.00308
|
NM_001277115.2(DNAH11):c.3237T>C (p.Leu1079=)
|
rs72657304
|
0.00308
|
NM_000053.4(ATP7B):c.3588C>T (p.Asp1196=)
|
rs11840224
|
0.00305
|
NM_019040.5(ELP4):c.*3242G>A
|
rs187705792
|
0.00303
|
NM_000275.3(OCA2):c.1744C>T (p.Leu582=)
|
rs61751032
|
0.00302
|
NM_018122.5(DARS2):c.128-4A>T
|
rs769597479
|
0.00300
|
NM_002615.7(SERPINF1):c.85-14C>T
|
rs200755661
|
0.00299
|
NM_207352.4(CYP4V2):c.610G>A (p.Ala204Thr)
|
rs61745524
|
0.00299
|
NM_000528.4(MAN2B1):c.844C>T (p.Pro282Ser)
|
rs45576136
|
0.00296
|
NM_001384474.1(LOXHD1):c.1570C>T (p.Arg524Cys)
|
rs192376005
|
0.00295
|
NM_000487.6(ARSA):c.466-7G>C
|
rs6151414
|
0.00294
|
NM_000053.4(ATP7B):c.2355+13T>G
|
rs139211339
|
0.00293
|
NM_000152.5(GAA):c.917C>T (p.Ser306Leu)
|
rs138097673
|
0.00292
|
NM_014363.6(SACS):c.3129A>G (p.Ser1043=)
|
rs148878361
|
0.00292
|
NM_001010892.3(RSPH4A):c.675G>T (p.Ser225=)
|
rs79327004
|
0.00290
|
NM_001558.4(IL10RA):c.67+8T>C
|
rs200992970
|
0.00290
|
NM_003227.4(TFR2):c.1473G>A (p.Glu491=)
|
rs139178017
|
0.00289
|
NM_000341.4(SLC3A1):c.566C>T (p.Thr189Met)
|
rs140317484
|
0.00287
|
NM_138694.4(PKHD1):c.9866G>T (p.Ser3289Ile)
|
rs148932323
|
0.00287
|
NM_147127.5(EVC2):c.122C>A (p.Pro41His)
|
rs544397395
|
0.00286
|
NM_001114134.2(EPB42):c.1279C>T (p.Arg427Cys)
|
rs45594632
|
0.00285
|
NM_001160372.4(TRAPPC9):c.588T>C (p.His196=)
|
rs61736350
|
0.00284
|
NM_000518.5(HBB):c.*96T>C
|
rs34029390
|
0.00283
|
NM_012179.4(FBXO7):c.693C>T (p.Ser231=)
|
rs61752254
|
0.00283
|
NM_007078.3(LDB3):c.-23-32C>A
|
rs34972863
|
0.00282
|
NM_000297.4(PKD2):c.2411G>A (p.Ser804Asn)
|
rs145343957
|
0.00280
|
NM_000426.4(LAMA2):c.5633C>T (p.Ser1878Phe)
|
rs139586720
|
0.00279
|
NM_020366.4(RPGRIP1):c.218+13C>G
|
rs200225522
|
0.00279
|
NM_020533.3(MCOLN1):c.16G>T (p.Gly6Cys)
|
rs61736595
|
0.00279
|
NM_001369.3(DNAH5):c.299G>C (p.Gly100Ala)
|
rs144236383
|
0.00278
|
NM_001844.5(COL2A1):c.2574C>T (p.Gly858=)
|
rs141423593
|
0.00278
|
NM_018249.6(CDK5RAP2):c.5355G>A (p.Thr1785=)
|
rs145402135
|
0.00277
|
NM_000081.4(LYST):c.8913T>G (p.Asn2971Lys)
|
rs34702903
|
0.00276
|
NM_000152.5(GAA):c.1552-13G>A
|
rs111261964
|
0.00276
|
NM_000350.3(ABCA4):c.455G>A (p.Arg152Gln)
|
rs62646862
|
0.00276
|
NM_000553.6(WRN):c.3785C>G (p.Thr1262Arg)
|
rs78488552
|
0.00276
|
NM_000277.3(PAH):c.772C>T (p.Leu258=)
|
rs75065106
|
0.00272
|
NM_003465.3(CHIT1):c.585C>T (p.Tyr195=)
|
rs114168492
|
0.00272
|
NM_001395413.1(POR):c.674C>T (p.Pro225Leu)
|
rs17853284
|
0.00271
|
NM_015192.4(PLCB1):c.3550C>T (p.Leu1184Phe)
|
rs28390202
|
0.00270
|
NM_025137.4(SPG11):c.6224A>G (p.Asn2075Ser)
|
rs140824939
|
0.00270
|
NM_014141.6(CNTNAP2):c.1083G>A (p.Val361=)
|
rs139180845
|
0.00269
|
NM_001358530.2(MOCS1):c.124-69G>A
|
rs45487695
|
0.00266
|
NM_000343.4(SLC5A1):c.625G>T (p.Val209Leu)
|
rs150117594
|
0.00264
|
NM_022132.5(MCCC2):c.599T>A (p.Ile200Asn)
|
rs140806722
|
0.00262
|
NM_013435.3(RAX):c.197G>C (p.Arg66Thr)
|
rs536765190
|
0.00260
|
NM_000391.4(TPP1):c.840G>C (p.Leu280=)
|
rs140349036
|
0.00257
|
NM_002303.6(LEPR):c.3417A>G (p.Ala1139=)
|
rs61781316
|
0.00257
|
NM_001243177.4(ALDOA):c.1201G>A (p.Gly401Ser)
|
rs138824667
|
0.00256
|
NM_001005242.3(PKP2):c.1627G>A (p.Val543Ile)
|
rs146102241
|
0.00255
|
NM_001377.3(DYNC2H1):c.1484A>C (p.Lys495Thr)
|
rs202233363
|
0.00255
|
NM_000018.4(ACADVL):c.1839G>A (p.Arg613=)
|
rs79125791
|
0.00254
|
NM_001369.3(DNAH5):c.7752+10T>C
|
rs149460805
|
0.00253
|
NM_001005242.3(PKP2):c.419C>T (p.Ser140Phe)
|
rs150821281
|
0.00252
|
NM_015046.7(SETX):c.*254C>T
|
rs11545230
|
0.00252
|
NM_006371.5(CRTAP):c.1039C>T (p.Leu347Phe)
|
rs115198029
|
0.00250
|
NM_017739.4(POMGNT1):c.301G>A (p.Val101Ile)
|
rs150576537
|
0.00250
|
NM_031885.5(BBS2):c.1422G>A (p.Ser474=)
|
rs117033008
|
0.00250
|
NM_001360.3(DHCR7):c.399C>T (p.Ala133=)
|
rs147424205
|
0.00248
|
NM_002615.7(SERPINF1):c.202G>C (p.Val68Leu)
|
rs143827025
|
0.00248
|
NM_022124.6(CDH23):c.1307G>A (p.Ser436Asn)
|
rs111033369
|
0.00248
|
NM_000112.4(SLC26A2):c.987T>C (p.Leu329=)
|
rs116302615
|
0.00246
|
NM_015346.4(ZFYVE26):c.4854C>T (p.Leu1618=)
|
rs151287975
|
0.00246
|
NM_017950.4(CCDC40):c.334A>G (p.Thr112Ala)
|
rs201709592
|
0.00245
|
NM_144508.5(KNL1):c.1233G>C (p.Met411Ile)
|
rs116093409
|
0.00245
|
NM_000018.4(ACADVL):c.1844G>A (p.Arg615Gln)
|
rs148584617
|
0.00244
|
NM_000350.3(ABCA4):c.1653G>A (p.Val551=)
|
rs61753963
|
0.00243
|
NM_000543.5(SMPD1):c.441G>A (p.Val147=)
|
rs148944108
|
0.00241
|
NM_000260.4(MYO7A):c.4992C>T (p.Thr1664=)
|
rs181573957
|
0.00240
|
NM_001035.3(RYR2):c.4068C>T (p.Pro1356=)
|
rs199821105
|
0.00240
|
NM_020366.4(RPGRIP1):c.2284C>T (p.Leu762=)
|
rs145896974
|
0.00240
|
NM_014908.4(DOLK):c.631C>T (p.Arg211Cys)
|
rs145310298
|
0.00238
|
NM_213599.3(ANO5):c.155A>G (p.Asn52Ser)
|
rs143777403
|
0.00238
|
NM_000263.4(NAGLU):c.1515C>T (p.Ser505=)
|
rs112751577
|
0.00237
|
NM_000528.4(MAN2B1):c.743C>T (p.Pro248Leu)
|
rs117843968
|
0.00237
|
NM_000426.4(LAMA2):c.4959+6G>T
|
rs148060790
|
0.00236
|
NM_001065.4(TNFRSF1A):c.1110C>T (p.Arg370=)
|
rs201683984
|
0.00236
|
NM_001164508.2(NEB):c.4272G>C (p.Thr1424=)
|
rs35654397
|
0.00236
|
NM_014363.6(SACS):c.10611A>G (p.Ala3537=)
|
rs137856939
|
0.00236
|
NM_001352514.2(HLCS):c.1074G>A (p.Thr358=)
|
rs116985497
|
0.00235
|
NM_152783.5(D2HGDH):c.1258G>A (p.Ala420Thr)
|
rs149504235
|
0.00235
|
NM_000394.4(CRYAA):c.154C>T (p.Leu52Phe)
|
rs146914780
|
0.00234
|
NM_153676.4(USH1C):c.403G>A (p.Val135Ile)
|
rs145013633
|
0.00234
|
NM_206933.4(USH2A):c.4560C>T (p.Ile1520=)
|
rs148000219
|
0.00234
|
NM_001134363.3(RBM20):c.1986G>A (p.Pro662=)
|
rs537723089
|
0.00233
|
NM_153603.4(COG7):c.1178A>G (p.His393Arg)
|
rs116331296
|
0.00233
|
NM_004287.5(GOSR2):c.40G>A (p.Glu14Lys)
|
rs113817924
|
0.00232
|
NM_000126.4(ETFA):c.186+7A>G
|
rs184587113
|
0.00231
|
NM_001005242.3(PKP2):c.2260A>G (p.Thr754Ala)
|
rs112592855
|
0.00231
|
NM_000135.4(FANCA):c.1874G>C (p.Cys625Ser)
|
rs139235751
|
0.00230
|
NM_000465.4(BARD1):c.1977A>G (p.Arg659=)
|
rs147215925
|
0.00230
|
NM_001363.4(DKC1):c.-142C>G
|
rs199422241
|
0.00229
|
NM_032193.4(RNASEH2C):c.417C>G (p.Gly139=)
|
rs147021687
|
0.00229
|
NM_053025.4(MYLK):c.24C>G (p.Ala8=)
|
rs78118111
|
0.00229
|
NM_001369.3(DNAH5):c.624C>T (p.Asn208=)
|
rs139640247
|
0.00228
|
NM_000053.4(ATP7B):c.2955C>T (p.Cys985=)
|
rs116587608
|
0.00227
|
NM_001199397.3(NEK1):c.1021G>A (p.Ala341Thr)
|
rs189186475
|
0.00227
|
NM_001845.6(COL4A1):c.-103G>A
|
rs538721412
|
0.00227
|
NM_014339.7(IL17RA):c.1530C>T (p.Asp510=)
|
rs148319877
|
0.00227
|
NM_014855.3(AP5Z1):c.366+5C>T
|
rs143800095
|
0.00227
|
NM_012092.4(ICOS):c.451G>C (p.Val151Leu)
|
rs76778263
|
0.00226
|
NM_182894.3(VSX2):c.162C>A (p.Asp54Glu)
|
rs61747367
|
0.00226
|
NM_001114134.2(EPB42):c.894C>T (p.Thr298=)
|
rs35719500
|
0.00225
|
NM_001374736.1(DST):c.2256A>T (p.Ser752=)
|
rs113432929
|
0.00225
|
NM_017534.6(MYH2):c.3181C>G (p.Leu1061Val)
|
rs142586585
|
0.00225
|
NM_000016.6(ACADM):c.469-9A>G
|
rs181322317
|
0.00223
|
NM_000295.5(SERPINA1):c.922G>T (p.Ala308Ser)
|
rs141620200
|
0.00222
|
NM_001148.6(ANK2):c.7132G>A (p.Glu2378Lys)
|
rs141191319
|
0.00222
|
NM_001160372.4(TRAPPC9):c.3291C>T (p.Ser1097=)
|
rs148857575
|
0.00222
|
NM_001355436.2(SPTB):c.1896A>G (p.Gln632=)
|
rs74056006
|
0.00222
|
NM_001101426.4(CRPPA):c.79A>C (p.Thr27Pro)
|
rs558064127
|
0.00220
|
NM_000466.3(PEX1):c.330C>G (p.Pro110=)
|
rs71560821
|
0.00218
|
NM_001384474.1(LOXHD1):c.5689C>T (p.Leu1897=)
|
rs202043044
|
0.00218
|
NM_018418.5(SPATA7):c.815G>A (p.Arg272Gln)
|
rs34682727
|
0.00218
|
NM_000243.3(MEFV):c.329T>C (p.Leu110Pro)
|
rs11466018
|
0.00217
|
NM_000466.3(PEX1):c.1579A>G (p.Thr527Ala)
|
rs144942544
|
0.00217
|
NM_000466.3(PEX1):c.2442C>T (p.Phe814=)
|
rs145430946
|
0.00216
|
NM_002474.3(MYH11):c.3928G>A (p.Val1310Met)
|
rs7196804
|
0.00216
|
NM_213599.3(ANO5):c.*1712T>C
|
rs530413127
|
0.00216
|
NM_000170.3(GLDC):c.2487C>T (p.Ala829=)
|
rs141806715
|
0.00213
|
NM_000492.4(CFTR):c.2620-15C>G
|
rs139379077
|
0.00212
|
NM_000642.3(AGL):c.2390A>G (p.Asn797Ser)
|
rs149210307
|
0.00212
|
NM_001277115.2(DNAH11):c.13076G>A (p.Arg4359Gln)
|
rs113653972
|
0.00212
|
NM_001377.3(DYNC2H1):c.9297T>C (p.Tyr3099=)
|
rs180787556
|
0.00212
|
NM_153006.3(NAGS):c.1281C>G (p.Ala427=)
|
rs371886833
|
0.00210
|
NM_172364.5(CACNA2D4):c.3356C>T (p.Pro1119Leu)
|
rs145150489
|
0.00210
|
NM_000642.3(AGL):c.2522C>T (p.Ser841Phe)
|
rs150441555
|
0.00209
|
NM_007294.4(BRCA1):c.2167A>G (p.Asn723Asp)
|
rs4986845
|
0.00209
|
NM_000170.3(GLDC):c.1156-7C>G
|
rs150095531
|
0.00208
|
NM_000492.4(CFTR):c.2991G>C (p.Leu997Phe)
|
rs1800111
|
0.00208
|
NM_001164508.2(NEB):c.25367C>T (p.Thr8456Met)
|
rs78592085
|
0.00208
|
NM_006493.4(CLN5):c.-99G>C
|
rs202118652
|
0.00208
|
NM_020919.4(ALS2):c.2241C>T (p.Tyr747=)
|
rs3219160
|
0.00208
|
NM_058216.3(RAD51C):c.790G>A (p.Gly264Ser)
|
rs147241704
|
0.00207
|
NM_000426.4(LAMA2):c.411G>A (p.Ala137=)
|
rs149347601
|
0.00206
|
NM_000293.3(PHKB):c.518A>G (p.Asn173Ser)
|
rs139738333
|
0.00205
|
NM_001114134.2(EPB42):c.453T>C (p.Asn151=)
|
rs114136713
|
0.00205
|
NM_001035.3(RYR2):c.10324-4A>G
|
rs72751287
|
0.00203
|
NM_001122659.3(EDNRB):c.1239C>G (p.Ser413=)
|
rs139317762
|
0.00203
|
NM_003640.5(ELP1):c.1886G>A (p.Arg629His)
|
rs148378319
|
0.00203
|
NM_022124.6(CDH23):c.6705C>T (p.Ile2235=)
|
rs114827737
|
0.00203
|
NM_006005.3(WFS1):c.1554G>A (p.Met518Ile)
|
rs138232538
|
0.00202
|
NM_052945.4(TNFRSF13C):c.317G>A (p.Arg106Gln)
|
rs150374940
|
0.00202
|
NM_000243.3(MEFV):c.1173T>C (p.Asp391=)
|
rs146077729
|
0.00201
|
NM_001142800.2(EYS):c.-337T>A
|
rs145321084
|
0.00201
|
NM_006096.4(NDRG1):c.331A>C (p.Met111Leu)
|
rs2233328
|
0.00201
|
NM_006348.5(COG5):c.790T>A (p.Leu264Ile)
|
rs142276972
|
0.00201
|
NM_014855.3(AP5Z1):c.481G>A (p.Val161Met)
|
rs191971593
|
0.00201
|
NM_000051.4(ATM):c.162T>C (p.Tyr54=)
|
rs3218690
|
0.00200
|
NM_001164508.2(NEB):c.3593A>G (p.Asn1198Ser)
|
rs146616621
|
0.00200
|
NM_002408.4(MGAT2):c.229C>T (p.Pro77Ser)
|
rs145684106
|
0.00200
|
NM_012073.5(CCT5):c.331+14A>T
|
rs201171003
|
0.00199
|
NM_005327.7(HADH):c.643C>A (p.Pro215Thr)
|
rs140413151
|
0.00198
|
NM_014363.6(SACS):c.10982C>T (p.Ala3661Val)
|
rs36061856
|
0.00198
|
NM_000260.4(MYO7A):c.3750+9G>A
|
rs111033252
|
0.00197
|
NM_001040108.2(MLH3):c.2425A>G (p.Met809Val)
|
rs61752722
|
0.00197
|
NM_001355436.2(SPTB):c.5052C>T (p.Arg1684=)
|
rs229593
|
0.00197
|
NM_001909.5(CTSD):c.639C>G (p.Pro213=)
|
rs146073498
|
0.00197
|
NM_003748.4(ALDH4A1):c.244G>A (p.Val82Met)
|
rs76762510
|
0.00197
|
NM_014363.6(SACS):c.4076T>C (p.Met1359Thr)
|
rs146451611
|
0.00197
|
NM_024426.6(WT1):c.309C>A (p.Gly103=)
|
rs547333427
|
0.00197
|
NM_002454.3(MTRR):c.1982A>G (p.His661Arg)
|
rs148909799
|
0.00196
|
NM_004525.3(LRP2):c.6850A>G (p.Thr2284Ala)
|
rs35413340
|
0.00196
|
NM_024996.7(GFM1):c.2190C>T (p.Asp730=)
|
rs149049400
|
0.00196
|
NM_000070.3(CAPN3):c.2264-11C>T
|
rs28364537
|
0.00195
|
NM_005327.7(HADH):c.456G>T (p.Gln152His)
|
rs1051519
|
0.00195
|
NM_000349.3(STAR):c.361C>T (p.Arg121Trp)
|
rs34908868
|
0.00193
|
NM_006261.5(PROP1):c.425C>T (p.Ala142Val)
|
rs143790367
|
0.00193
|
NM_001142800.2(EYS):c.4985A>T (p.Asp1662Val)
|
rs147641443
|
0.00192
|
NM_002303.6(LEPR):c.371A>G (p.Asp124Gly)
|
rs35573508
|
0.00192
|
NM_015627.3(LDLRAP1):c.672C>T (p.Ser224=)
|
rs41291054
|
0.00191
|
NM_018475.5(TMEM165):c.294C>T (p.Val98=)
|
rs11542641
|
0.00191
|
NM_000318.3(PEX2):c.91C>G (p.Gln31Glu)
|
rs149287302
|
0.00190
|
NM_206933.4(USH2A):c.3621C>T (p.Ile1207=)
|
rs146462407
|
0.00190
|
NM_206933.4(USH2A):c.4586A>T (p.Lys1529Ile)
|
rs41303255
|
0.00190
|
NM_000096.4(CP):c.2571C>T (p.Tyr857=)
|
rs151304828
|
0.00189
|
NM_000350.3(ABCA4):c.4297G>A (p.Val1433Ile)
|
rs56357060
|
0.00189
|
NM_001360.3(DHCR7):c.321+10C>T
|
rs377108406
|
0.00189
|
NM_005609.4(PYGM):c.330C>T (p.Asp110=)
|
rs114742918
|
0.00189
|
NM_019040.5(ELP4):c.*3904G>A
|
rs3026397
|
0.00189
|
NM_000027.4(AGA):c.436T>G (p.Leu146Val)
|
rs146381591
|
0.00188
|
NM_000027.4(AGA):c.623-7C>T
|
rs201125635
|
0.00188
|
NM_000249.4(MLH1):c.790+10A>G
|
rs182733777
|
0.00188
|
NM_002485.5(NBN):c.283G>A (p.Asp95Asn)
|
rs61753720
|
0.00188
|
NM_001256715.2(DNAAF3):c.832G>A (p.Ala278Thr)
|
rs200775946
|
0.00187
|
NM_052859.4(RFT1):c.5G>A (p.Gly2Asp)
|
rs185366134
|
0.00187
|
NM_000350.3(ABCA4):c.6255C>T (p.Leu2085=)
|
rs61748519
|
0.00185
|
NM_000466.3(PEX1):c.637C>T (p.Leu213Phe)
|
rs141798874
|
0.00185
|
NM_001126108.2(SLC12A3):c.1980C>T (p.Asp660=)
|
rs201519016
|
0.00185
|
NM_022124.6(CDH23):c.10026C>T (p.Asp3342=)
|
rs377118941
|
0.00185
|
NM_000135.4(FANCA):c.694A>C (p.Arg232=)
|
rs61757384
|
0.00184
|
NM_001267550.2(TTN):c.92176C>T (p.Pro30726Ser)
|
rs72648247
|
0.00184
|
NM_000306.4(POU1F1):c.370A>G (p.Met124Val)
|
rs143373007
|
0.00183
|
NM_000350.3(ABCA4):c.2588-12C>G
|
rs61751396
|
0.00183
|
NM_000350.3(ABCA4):c.3759G>A (p.Thr1253=)
|
rs147884766
|
0.00183
|
NM_000441.2(SLC26A4):c.2326C>T (p.Arg776Cys)
|
rs111033255
|
0.00183
|
NM_020366.4(RPGRIP1):c.2376G>A (p.Ser792=)
|
rs185667326
|
0.00183
|
NM_032520.5(GNPTG):c.741+5C>T
|
rs201263537
|
0.00183
|
NM_001164508.2(NEB):c.21685G>C (p.Asp7229His)
|
rs201979610
|
0.00182
|
NM_003664.5(AP3B1):c.1069A>G (p.Ile357Val)
|
rs142025324
|
0.00182
|
NM_006019.4(TCIRG1):c.1800C>T (p.Ala600=)
|
rs145144233
|
0.00182
|
NM_022124.6(CDH23):c.*68G>C
|
rs527311705
|
0.00182
|
NM_002618.4(PEX13):c.355G>A (p.Val119Ile)
|
rs147707348
|
0.00181
|
NM_015702.3(MMADHC):c.646C>G (p.Arg216Gly)
|
rs141093638
|
0.00181
|
NM_000286.3(PEX12):c.451C>T (p.Arg151Cys)
|
rs138731505
|
0.00180
|
NM_000349.3(STAR):c.687G>A (p.Pro229=)
|
rs35852516
|
0.00180
|
NM_000787.4(DBH):c.1444G>A (p.Gly482Arg)
|
rs41316996
|
0.00180
|
NM_182760.4(SUMF1):c.664G>C (p.Gly222Arg)
|
rs137917233
|
0.00180
|
NM_001918.5(DBT):c.753C>T (p.Asp251=)
|
rs79292123
|
0.00179
|
NM_000350.3(ABCA4):c.1928T>G (p.Val643Gly)
|
rs61754024
|
0.00178
|
NM_001161352.2(KCNMA1):c.413C>T (p.Ala138Val)
|
rs144215383
|
0.00178
|
NM_001384474.1(LOXHD1):c.1617G>A (p.Met539Ile)
|
rs143142227
|
0.00178
|
NM_006371.5(CRTAP):c.732C>T (p.Leu244=)
|
rs149119710
|
0.00178
|
NM_016938.5(EFEMP2):c.1188C>T (p.Ser396=)
|
rs2234473
|
0.00178
|
NM_033305.3(VPS13A):c.7457T>C (p.Ile2486Thr)
|
rs141138349
|
0.00178
|
NM_001164508.2(NEB):c.22800+9A>G
|
rs144303545
|
0.00177
|
NM_001164508.2(NEB):c.23477A>G (p.Asn7826Ser)
|
rs143602832
|
0.00177
|
NM_016239.4(MYO15A):c.9754A>G (p.Asn3252Asp)
|
rs147458358
|
0.00177
|
NM_000256.3(MYBPC3):c.1608T>A (p.Ala536=)
|
rs200224422
|
0.00176
|
NM_000275.3(OCA2):c.1560C>A (p.Leu520=)
|
rs140932222
|
0.00176
|
NM_000293.3(PHKB):c.400G>A (p.Asp134Asn)
|
rs144486825
|
0.00176
|
NM_001355436.2(SPTB):c.5463C>T (p.Pro1821=)
|
rs114513294
|
0.00176
|
NM_001375808.2(LPIN2):c.-10+1381T>C
|
rs566304730
|
0.00176
|
NM_014317.5(PDSS1):c.589A>G (p.Lys197Glu)
|
rs116424900
|
0.00176
|
NM_022124.6(CDH23):c.6713-8G>A
|
rs369946986
|
0.00176
|
NM_152783.5(D2HGDH):c.423C>T (p.Pro141=)
|
rs142473303
|
0.00176
|
NM_000426.4(LAMA2):c.1621A>G (p.Ser541Gly)
|
rs141363186
|
0.00175
|
NM_004629.2(FANCG):c.1638T>C (p.Gly546=)
|
rs45537335
|
0.00175
|
NM_005609.4(PYGM):c.924C>T (p.Ile308=)
|
rs139726186
|
0.00175
|
NM_000350.3(ABCA4):c.2701A>G (p.Thr901Ala)
|
rs61754030
|
0.00174
|
NM_001875.5(CPS1):c.783C>T (p.Ile261=)
|
rs142468138
|
0.00174
|
NM_004970.3(IGFALS):c.1436G>A (p.Gly479Asp)
|
rs182305760
|
0.00174
|
NM_000349.3(STAR):c.141G>A (p.Thr47=)
|
rs147318238
|
0.00173
|
NM_000426.4(LAMA2):c.2462C>T (p.Thr821Met)
|
rs117422805
|
0.00173
|
NM_000426.4(LAMA2):c.6279C>T (p.Ala2093=)
|
rs141190803
|
0.00173
|
NM_000520.6(HEXA):c.346+13C>T
|
rs200871198
|
0.00173
|
NM_001384474.1(LOXHD1):c.3090G>A (p.Thr1030=)
|
rs113994614
|
0.00173
|
NM_000057.4(BLM):c.2119C>T (p.Pro707Ser)
|
rs146077918
|
0.00172
|
NM_000532.5(PCCB):c.49C>A (p.Leu17Met)
|
rs200185747
|
0.00172
|
NM_000834.5(GRIN2B):c.*1230G>C
|
rs151270374
|
0.00172
|
NM_002617.4(PEX10):c.712G>C (p.Gly238Arg)
|
rs61736380
|
0.00172
|
NM_006348.5(COG5):c.50G>T (p.Gly17Val)
|
rs139763861
|
0.00172
|
NM_000492.4(CFTR):c.2260G>A (p.Val754Met)
|
rs150157202
|
0.00171
|
NM_001256545.2(MEGF10):c.3216G>C (p.Arg1072Ser)
|
rs75783175
|
0.00171
|
NM_001365536.1(SCN9A):c.4314C>T (p.Val1438=)
|
rs188336294
|
0.00171
|
NM_002474.3(MYH11):c.5800A>T (p.Thr1934Ser)
|
rs113667224
|
0.00171
|
NM_022132.5(MCCC2):c.1217-7C>G
|
rs148369119
|
0.00171
|
NM_000037.4(ANK1):c.2830G>A (p.Ala944Thr)
|
rs35797405
|
0.00170
|
NM_014363.6(SACS):c.2988A>G (p.Leu996=)
|
rs111846884
|
0.00170
|
NM_022124.6(CDH23):c.5753G>A (p.Arg1918Gln)
|
rs115113440
|
0.00170
|
NM_000051.4(ATM):c.5071A>C (p.Ser1691Arg)
|
rs1800059
|
0.00169
|
NM_001199397.3(NEK1):c.3411G>A (p.Leu1137=)
|
rs56077602
|
0.00169
|
NM_003859.3(DPM1):c.40C>T (p.Arg14Trp)
|
rs117175017
|
0.00169
|
NM_022041.4(GAN):c.1445C>T (p.Ala482Val)
|
rs146576740
|
0.00169
|
NM_213599.3(ANO5):c.2698A>C (p.Met900Leu)
|
rs148293985
|
0.00169
|
NM_001384474.1(LOXHD1):c.5313C>T (p.Gly1771=)
|
rs373924055
|
0.00168
|
NM_014363.6(SACS):c.10274A>G (p.Lys3425Arg)
|
rs147317123
|
0.00168
|
NM_198506.5(LRIT3):c.1455C>T (p.Ala485=)
|
rs149304853
|
0.00168
|
NM_033100.4(CDHR1):c.1071C>T (p.Ser357=)
|
rs146588811
|
0.00167
|
NM_206933.4(USH2A):c.3648C>T (p.Tyr1216=)
|
rs147947402
|
0.00167
|
NM_000051.4(ATM):c.609C>T (p.Asp203=)
|
rs144709948
|
0.00166
|
NM_033100.4(CDHR1):c.526-7C>G
|
rs190906755
|
0.00166
|
NM_000051.4(ATM):c.7788+8G>T
|
rs112775908
|
0.00165
|
NM_000293.3(PHKB):c.574A>G (p.Ile192Val)
|
rs117218785
|
0.00165
|
NM_000426.4(LAMA2):c.1308T>G (p.Gly436=)
|
rs41285286
|
0.00165
|
NM_000426.4(LAMA2):c.7640G>A (p.Gly2547Glu)
|
rs115488979
|
0.00165
|
NM_020919.4(ALS2):c.1816-8C>T
|
rs185911369
|
0.00165
|
NM_000057.4(BLM):c.2268A>G (p.Lys756=)
|
rs146013879
|
0.00163
|
NM_000135.4(FANCA):c.1471-12A>G
|
rs9282684
|
0.00163
|
NM_000540.3(RYR1):c.12884C>T (p.Ala4295Val)
|
rs193922855
|
0.00163
|
NM_001044385.3(TMEM237):c.348G>A (p.Ala116=)
|
rs191125006
|
0.00163
|
NM_001277115.2(DNAH11):c.8533C>G (p.Arg2845Gly)
|
rs121908854
|
0.00163
|
NM_013435.3(RAX):c.290-4C>A
|
rs200338566
|
0.00163
|
NM_080911.3(UNG):c.533+6G>A
|
rs55812333
|
0.00163
|
NM_201548.5(CERKL):c.820+9G>A
|
rs189638090
|
0.00163
|
NM_000071.3(CBS):c.1059G>A (p.Thr353=)
|
rs61735859
|
0.00162
|
NM_000096.4(CP):c.2684G>C (p.Gly895Ala)
|
rs139633388
|
0.00162
|
NM_032409.3(PINK1):c.165G>A (p.Glu55=)
|
rs537679886
|
0.00162
|
NM_199242.3(UNC13D):c.2341G>A (p.Val781Ile)
|
rs149871493
|
0.00162
|
NM_000152.5(GAA):c.-312C>T
|
rs574326920
|
0.00161
|
NM_001370298.3(FGD4):c.666A>T (p.Ala222=)
|
rs139357821
|
0.00161
|
NM_001089.3(ABCA3):c.2268C>T (p.Ala756=)
|
rs143552557
|
0.00160
|
NM_001166114.2(PNPLA6):c.2359G>A (p.Val787Met)
|
rs145988230
|
0.00160
|
NM_024079.5(ALG8):c.96-6G>C
|
rs199911532
|
0.00160
|
NM_000282.4(PCCA):c.1558A>T (p.Ser520Cys)
|
rs112237881
|
0.00159
|
NM_001358530.2(MOCS1):c.1064T>C (p.Ile355Thr)
|
rs143912353
|
0.00159
|
NM_000123.4(ERCC5):c.1789G>C (p.Val597Leu)
|
rs4150319
|
0.00158
|
NM_001164688.2(RD3):c.494A>C (p.Asp165Ala)
|
rs149051185
|
0.00158
|
NM_000466.3(PEX1):c.130-9T>C
|
rs377337949
|
0.00157
|
NM_030787.4(CFHR5):c.622T>C (p.Cys208Arg)
|
rs41299613
|
0.00157
|
NM_015272.5(RPGRIP1L):c.2153-4G>C
|
rs201380599
|
0.00156
|
NM_020800.3(IFT80):c.897G>A (p.Val299=)
|
rs145776235
|
0.00156
|
NM_022098.4(XPNPEP3):c.590-8A>G
|
rs143719656
|
0.00156
|
NM_000027.4(AGA):c.303A>T (p.Ala101=)
|
rs142449515
|
0.00155
|
NM_000466.3(PEX1):c.1011G>A (p.Lys337=)
|
rs142018583
|
0.00155
|
NM_000529.2(MC2R):c.318C>T (p.Ile106=)
|
rs147706299
|
0.00155
|
NM_001355436.2(SPTB):c.807T>C (p.Tyr269=)
|
rs115882528
|
0.00155
|
NM_002474.3(MYH11):c.2961C>T (p.Ile987=)
|
rs137988790
|
0.00155
|
NM_004004.6(GJB2):c.*3C>A
|
rs111033460
|
0.00155
|
NM_018136.5(ASPM):c.9254T>C (p.Ile3085Thr)
|
rs138138436
|
0.00155
|
NM_177965.4(CFAP418):c.528A>G (p.Thr176=)
|
rs143748636
|
0.00155
|
NM_138711.6(PPARG):c.150C>T (p.Asp50=)
|
rs112174008
|
0.00154
|
NM_000294.3(PHKG2):c.393G>A (p.Arg131=)
|
rs55751949
|
0.00153
|
NM_000527.5(LDLR):c.498C>T (p.Ala166=)
|
rs10417394
|
0.00153
|
NM_025137.4(SPG11):c.4744-6T>C
|
rs147550048
|
0.00153
|
NM_133259.4(LRPPRC):c.3148+12C>T
|
rs199684766
|
0.00153
|
NM_000687.4(AHCY):c.853C>T (p.Arg285Trp)
|
rs116846245
|
0.00152
|
NM_001374736.1(DST):c.2350C>G (p.Pro784Ala)
|
rs151271595
|
0.00152
|
NM_005591.4(MRE11):c.822T>C (p.Leu274=)
|
rs137868143
|
0.00152
|
NM_018718.3(CEP41):c.20T>C (p.Ile7Thr)
|
rs147494464
|
0.00152
|
NM_000053.4(ATP7B):c.4135C>T (p.Pro1379Ser)
|
rs181250704
|
0.00151
|
NM_001040436.3(YARS2):c.104C>A (p.Ala35Asp)
|
rs149447502
|
0.00151
|
NM_001101426.4(CRPPA):c.1054C>A (p.Gln352Lys)
|
rs185594460
|
0.00151
|
NM_001101426.4(CRPPA):c.1059G>A (p.Lys353=)
|
rs181099904
|
0.00151
|
NM_001160372.4(TRAPPC9):c.1407C>T (p.Tyr469=)
|
rs117632905
|
0.00151
|
NM_016219.5(MAN1B1):c.1173C>T (p.Ser391=)
|
rs145704211
|
0.00151
|
NM_000037.4(ANK1):c.2495G>A (p.Arg832Gln)
|
rs34523608
|
0.00150
|
NM_000053.4(ATP7B):c.1620C>T (p.Leu540=)
|
rs145798966
|
0.00150
|
NM_000271.5(NPC1):c.3331C>T (p.Leu1111=)
|
rs151125564
|
0.00150
|
NM_000426.4(LAMA2):c.8728G>A (p.Val2910Ile)
|
rs141479751
|
0.00150
|
NM_000543.5(SMPD1):c.1589G>C (p.Gly530Ala)
|
rs35122256
|
0.00150
|
NM_001943.5(DSG2):c.166G>A (p.Val56Met)
|
rs121913013
|
0.00150
|
NM_002474.3(MYH11):c.5566C>T (p.Leu1856=)
|
rs142639688
|
0.00150
|
NM_006446.5(SLCO1B1):c.1332-14T>C
|
rs71581991
|
0.00150
|
NM_018249.6(CDK5RAP2):c.2568G>A (p.Gln856=)
|
rs144723485
|
0.00150
|
NM_025243.4(SLC19A3):c.621A>G (p.Ile207Met)
|
rs145804755
|
0.00150
|
NM_198525.3(KIF7):c.3998C>A (p.Pro1333Gln)
|
rs145726393
|
0.00150
|
NM_000053.4(ATP7B):c.1995G>A (p.Met665Ile)
|
rs72552259
|
0.00149
|
NM_000359.3(TGM1):c.61A>G (p.Thr21Ala)
|
rs140542428
|
0.00149
|
NM_001384474.1(LOXHD1):c.5023C>T (p.Arg1675Cys)
|
rs201060702
|
0.00149
|
NM_014363.6(SACS):c.810T>G (p.Phe270Leu)
|
rs116907814
|
0.00149
|
NM_000073.3(CD3G):c.158T>C (p.Ile53Thr)
|
rs142915569
|
0.00148
|
NM_000081.4(LYST):c.6710A>C (p.Gln2237Pro)
|
rs138443479
|
0.00148
|
NM_000138.5(FBN1):c.8502T>C (p.Thr2834=)
|
rs363847
|
0.00148
|
NM_000355.4(TCN2):c.138C>T (p.Ser46=)
|
rs143250551
|
0.00148
|
NM_001130987.2(DYSF):c.2409+14G>A
|
rs141170955
|
0.00148
|
NM_003865.2(HESX1):c.-276T>G
|
rs983243
|
0.00148
|
NM_005142.3(CBLIF):c.154T>A (p.Tyr52Asn)
|
rs144916324
|
0.00148
|
NM_005566.4(LDHA):c.439G>T (p.Ala147Ser)
|
rs116841148
|
0.00148
|
NM_000426.4(LAMA2):c.1782+14T>C
|
rs191215452
|
0.00147
|
NM_000426.4(LAMA2):c.74C>T (p.Pro25Leu)
|
rs145310035
|
0.00147
|
NM_001298.3(CNGA3):c.198C>T (p.Thr66=)
|
rs139544302
|
0.00147
|
NM_194318.4(B3GLCT):c.1371A>G (p.Gln457=)
|
rs114941150
|
0.00147
|
NM_000532.5(PCCB):c.872G>A (p.Cys291Tyr)
|
rs77820367
|
0.00146
|
NM_002241.5(KCNJ10):c.136G>A (p.Asp46Asn)
|
rs141553756
|
0.00146
|
NM_025114.4(CEP290):c.1298A>G (p.Asp433Gly)
|
rs200211587
|
0.00146
|
NM_138694.4(PKHD1):c.1342G>C (p.Gly448Arg)
|
rs149781976
|
0.00146
|
NM_206933.4(USH2A):c.486-15C>T
|
rs114194722
|
0.00146
|
NM_000433.4(NCF2):c.113G>A (p.Arg38Gln)
|
rs147415774
|
0.00145
|
NM_001164508.2(NEB):c.22878C>A (p.Ala7626=)
|
rs185574478
|
0.00145
|
NM_033100.4(CDHR1):c.1461G>A (p.Gly487=)
|
rs141787212
|
0.00145
|
NM_138694.4(PKHD1):c.7307C>T (p.Thr2436Ile)
|
rs147851214
|
0.00145
|
NM_000436.4(OXCT1):c.1491C>T (p.Asp497=)
|
rs144283422
|
0.00143
|
NM_000642.3(AGL):c.1875G>T (p.Thr625=)
|
rs141944878
|
0.00143
|
NM_201253.3(CRB1):c.2307C>T (p.Arg769=)
|
rs151104285
|
0.00143
|
NM_001164508.2(NEB):c.7126G>C (p.Val2376Leu)
|
rs141155976
|
0.00142
|
NM_006348.5(COG5):c.1776T>C (p.Ala592=)
|
rs142970891
|
0.00142
|
NM_006949.4(STXBP2):c.1455C>T (p.Asp485=)
|
rs146425381
|
0.00142
|
NM_021728.4(OTX2):c.-119-101C>T
|
rs534764707
|
0.00142
|
NM_001386140.1(MTTP):c.2433G>C (p.Leu811Phe)
|
rs144590904
|
0.00141
|
NM_000130.5(F5):c.2222A>G (p.Asn741Ser)
|
rs144979314
|
0.00140
|
NM_000130.5(F5):c.4589A>C (p.Glu1530Ala)
|
rs6007
|
0.00140
|
NM_000235.4(LIPA):c.754A>T (p.Ile252Leu)
|
rs147493628
|
0.00140
|
NM_001164508.2(NEB):c.19626T>C (p.Asp6542=)
|
rs190336010
|
0.00140
|
NM_001164508.2(NEB):c.23776C>T (p.Pro7926Ser)
|
rs193224180
|
0.00140
|
NM_001367624.2(ZNF469):c.2270T>G (p.Leu757Arg)
|
rs753664726
|
0.00140
|
NM_001377.3(DYNC2H1):c.3181C>G (p.Leu1061Val)
|
rs200466720
|
0.00140
|
NM_020366.4(RPGRIP1):c.95T>A (p.Met32Lys)
|
rs200510462
|
0.00140
|
NM_080911.3(UNG):c.246G>C (p.Leu82=)
|
rs144083363
|
0.00140
|
NM_138694.4(PKHD1):c.11338C>T (p.Pro3780Ser)
|
rs41273722
|
0.00140
|
NM_000051.4(ATM):c.1066-6T>G
|
rs201686625
|
0.00139
|
NM_000441.2(SLC26A4):c.964A>G (p.Asn322Asp)
|
rs143002265
|
0.00139
|
NM_000528.4(MAN2B1):c.1822G>A (p.Glu608Lys)
|
rs145062583
|
0.00139
|
NM_000601.6(HGF):c.137C>T (p.Ala46Val)
|
rs150267054
|
0.00139
|
NM_001369.3(DNAH5):c.7998G>T (p.Glu2666Asp)
|
rs148720124
|
0.00139
|
NM_016169.4(SUFU):c.910+14C>T
|
rs202247757
|
0.00139
|
NM_000260.4(MYO7A):c.510G>A (p.Leu170=)
|
rs34477144
|
0.00138
|
NM_000506.3(F2):c.598G>A (p.Glu200Lys)
|
rs62623459
|
0.00138
|
NM_001330078.2(NRXN1):c.322C>T (p.Pro108Ser)
|
rs199784029
|
0.00138
|
NM_001384474.1(LOXHD1):c.2914G>A (p.Glu972Lys)
|
rs367630521
|
0.00138
|
NM_001384474.1(LOXHD1):c.3024C>T (p.Val1008=)
|
rs370616818
|
0.00138
|
NM_002408.4(MGAT2):c.99G>T (p.Lys33Asn)
|
rs140584714
|
0.00138
|
NM_004629.2(FANCG):c.20C>T (p.Ser7Phe)
|
rs35984312
|
0.00138
|
NM_005198.5(CHKB):c.457T>C (p.Leu153=)
|
rs146693439
|
0.00138
|
NM_017668.3(NDE1):c.948-2772T>C
|
rs143288748
|
0.00138
|
NM_024422.6(DSC2):c.2194T>G (p.Leu732Val)
|
rs151024019
|
0.00138
|
NM_198525.3(KIF7):c.3944C>T (p.Pro1315Leu)
|
rs150248985
|
0.00138
|
NM_000051.4(ATM):c.998C>T (p.Ser333Phe)
|
rs28904919
|
0.00137
|
NM_000151.4(G6PC1):c.-45G>A
|
rs367816430
|
0.00137
|
NM_001040436.3(YARS2):c.*126_*127del
|
rs141873255
|
0.00137
|
NM_001164508.2(NEB):c.3623T>C (p.Ile1208Thr)
|
rs201141958
|
0.00137
|
NM_015192.4(PLCB1):c.2550G>T (p.Glu850Asp)
|
rs141433824
|
0.00137
|
NM_001044385.3(TMEM237):c.97C>T (p.Arg33Cys)
|
rs200714434
|
0.00136
|
NM_001160372.4(TRAPPC9):c.1164C>T (p.Tyr388=)
|
rs148976893
|
0.00136
|
NM_001395413.1(POR):c.975C>T (p.Ala325=)
|
rs72557941
|
0.00136
|
NM_003119.4(SPG7):c.4G>A (p.Ala2Thr)
|
rs535030441
|
0.00136
|
NM_000053.4(ATP7B):c.1278C>T (p.Val426=)
|
rs143556945
|
0.00135
|
NM_000355.4(TCN2):c.296A>C (p.Lys99Thr)
|
rs150225103
|
0.00135
|
NM_019892.6(INPP5E):c.21T>C (p.Asn7=)
|
rs571588033
|
0.00135
|
NM_022041.4(GAN):c.1612+12A>G
|
rs150344737
|
0.00135
|
NM_138694.4(PKHD1):c.3537T>C (p.Asn1179=)
|
rs141574387
|
0.00135
|
NM_153006.3(NAGS):c.1216G>A (p.Asp406Asn)
|
rs140481641
|
0.00135
|
NM_203486.3(DLL3):c.352-15C>T
|
rs201902809
|
0.00135
|
NM_000179.3(MSH6):c.3647-6T>A
|
rs182871847
|
0.00134
|
NM_000349.3(STAR):c.504C>T (p.His168=)
|
rs147138315
|
0.00134
|
NM_000355.4(TCN2):c.428-4T>C
|
rs201408393
|
0.00134
|
NM_000492.4(CFTR):c.91C>T (p.Arg31Cys)
|
rs1800073
|
0.00134
|
NM_001130987.2(DYSF):c.205G>C (p.Val69Leu)
|
rs114986640
|
0.00134
|
NM_001267550.2(TTN):c.66702C>T (p.Ala22234=)
|
rs371802557
|
0.00134
|
NM_001457.4(FLNB):c.420G>A (p.Thr140=)
|
rs192491895
|
0.00134
|
NM_000237.3(LPL):c.1136C>T (p.Thr379Ile)
|
rs76708715
|
0.00133
|
NM_000243.3(MEFV):c.986G>A (p.Arg329His)
|
rs104895112
|
0.00133
|
NM_001379610.1(SPINK1):c.75C>T (p.Ser25=)
|
rs35006579
|
0.00133
|
NM_002435.3(MPI):c.10C>T (p.Pro4Ser)
|
rs143982014
|
0.00133
|
NM_004239.4(TRIP11):c.382G>T (p.Ala128Ser)
|
rs141553918
|
0.00133
|
NM_022124.6(CDH23):c.*434G>A
|
rs529522213
|
0.00133
|
NM_025114.4(CEP290):c.3654T>C (p.Leu1218=)
|
rs201838492
|
0.00133
|
NM_194248.3(OTOF):c.5063C>T (p.Thr1688Met)
|
rs111033393
|
0.00133
|
NM_000528.4(MAN2B1):c.2260G>A (p.Glu754Lys)
|
rs141212446
|
0.00132
|
NM_001355436.2(SPTB):c.5915G>A (p.Arg1972Gln)
|
rs140141633
|
0.00132
|
NM_014336.5(AIPL1):c.-17C>A
|
rs188246267
|
0.00132
|
NM_133259.4(LRPPRC):c.64C>G (p.Leu22Val)
|
rs181626399
|
0.00132
|
NM_000433.4(NCF2):c.1184G>A (p.Arg395Gln)
|
rs145229115
|
0.00131
|
NM_001164508.2(NEB):c.4463T>C (p.Met1488Thr)
|
rs201545521
|
0.00131
|
NM_001875.5(CPS1):c.4252C>T (p.Pro1418Ser)
|
rs150966847
|
0.00131
|
NM_012434.5(SLC17A5):c.899C>T (p.Ser300Phe)
|
rs142553916
|
0.00131
|
NM_014363.6(SACS):c.7528G>A (p.Ala2510Thr)
|
rs111920492
|
0.00131
|
NM_020451.3(SELENON):c.729G>A (p.Pro243=)
|
rs139020143
|
0.00131
|
NM_022124.6(CDH23):c.*430A>T
|
rs562268606
|
0.00131
|
NM_001355436.2(SPTB):c.414T>C (p.Ile138=)
|
rs139699062
|
0.00130
|
NM_001558.4(IL10RA):c.698T>G (p.Val233Gly)
|
rs138929400
|
0.00130
|
NM_004519.4(KCNQ3):c.*3591T>C
|
rs778136645
|
0.00130
|
NM_012203.2(GRHPR):c.286C>T (p.Arg96Cys)
|
rs78920863
|
0.00130
|
NM_130849.4(SLC39A4):c.1743C>T (p.Val581=)
|
rs144252108
|
0.00130
|
NM_001256545.2(MEGF10):c.1626C>T (p.Cys542=)
|
rs146902993
|
0.00129
|
NM_001377.3(DYNC2H1):c.8481A>C (p.Thr2827=)
|
rs370627443
|
0.00129
|
NM_002693.3(POLG):c.1585+11T>C
|
rs201566815
|
0.00129
|
NM_014140.4(SMARCAL1):c.1196C>T (p.Thr399Met)
|
rs139872089
|
0.00129
|
NM_206937.2(LIG4):c.2525C>A (p.Ala842Asp)
|
rs72660870
|
0.00129
|
NM_000262.3(NAGA):c.280G>A (p.Asp94Asn)
|
rs73167107
|
0.00128
|
NM_002234.4(KCNA5):c.633G>C (p.Glu211Asp)
|
rs35853292
|
0.00128
|
NM_002693.3(POLG):c.2735-7C>G
|
rs200372494
|
0.00128
|
NM_020376.4(PNPLA2):c.1220C>T (p.Ser407Phe)
|
rs202081894
|
0.00128
|
NM_030777.4(SLC2A10):c.1512G>A (p.Ser504=)
|
rs117587497
|
0.00128
|
NM_054012.4(ASS1):c.1101G>A (p.Leu367=)
|
rs139031154
|
0.00128
|
NM_194318.4(B3GLCT):c.1207G>A (p.Val403Ile)
|
rs147485868
|
0.00128
|
NM_000492.4(CFTR):c.4242+10T>C
|
rs138642693
|
0.00127
|
NM_002234.4(KCNA5):c.1595C>T (p.Pro532Leu)
|
rs17221812
|
0.00127
|
NM_014239.4(EIF2B2):c.380C>T (p.Ala127Val)
|
rs150617429
|
0.00127
|
NM_020366.4(RPGRIP1):c.542C>G (p.Ala181Gly)
|
rs186266220
|
0.00127
|
NM_022436.3(ABCG5):c.1744G>A (p.Gly582Arg)
|
rs144973796
|
0.00127
|
NM_025137.4(SPG11):c.2887A>C (p.Arg963=)
|
rs150689014
|
0.00127
|
NM_000081.4(LYST):c.8487C>T (p.Ile2829=)
|
rs144597913
|
0.00126
|
NM_000136.3(FANCC):c.632C>G (p.Pro211Arg)
|
rs140781259
|
0.00126
|
NM_001040716.2(PC):c.616G>T (p.Val206Leu)
|
rs147945506
|
0.00126
|
NM_001134363.3(RBM20):c.1286T>C (p.Leu429Pro)
|
rs61735272
|
0.00126
|
NM_000051.4(ATM):c.4473C>T (p.Phe1491=)
|
rs4988008
|
0.00125
|
NM_000135.4(FANCA):c.2859C>G (p.Asp953Glu)
|
rs149112292
|
0.00125
|
NM_000158.4(GBE1):c.1521T>C (p.Thr507=)
|
rs372821643
|
0.00125
|
NM_000158.4(GBE1):c.15G>A (p.Met5Ile)
|
rs62267114
|
0.00125
|
NM_000218.3(KCNQ1):c.*904T>C
|
rs186055804
|
0.00125
|
NM_000439.5(PCSK1):c.1197-9C>T
|
rs200973203
|
0.00125
|
NM_000628.5(IL10RB):c.442G>A (p.Val148Met)
|
rs45545138
|
0.00125
|
NM_001164508.2(NEB):c.2510A>G (p.Lys837Arg)
|
rs189623595
|
0.00125
|
NM_001369369.1(FOXN1):c.546C>T (p.Asn182=)
|
rs62640040
|
0.00125
|
NM_001698.3(AUH):c.381A>G (p.Ile127Met)
|
rs146227896
|
0.00125
|
NM_018714.3(COG1):c.401C>T (p.Ser134Leu)
|
rs146066919
|
0.00125
|
NM_032409.3(PINK1):c.67G>A (p.Gly23Ser)
|
rs551542832
|
0.00125
|
NM_144508.5(KNL1):c.165C>T (p.Asn55=)
|
rs201818761
|
0.00125
|
NM_000018.4(ACADVL):c.818G>C (p.Gly273Ala)
|
rs150149784
|
0.00124
|
NM_000051.4(ATM):c.6067G>A (p.Gly2023Arg)
|
rs11212587
|
0.00124
|
NM_000151.4(G6PC1):c.340+10C>A
|
rs368450665
|
0.00124
|
NM_000154.2(GALK1):c.593C>T (p.Ala198Val)
|
rs80084721
|
0.00124
|
NM_001369.3(DNAH5):c.2443T>A (p.Leu815Met)
|
rs149654950
|
0.00124
|
NM_005373.3(MPL):c.754T>C (p.Tyr252His)
|
rs141311765
|
0.00124
|
NM_006261.5(PROP1):c.471C>T (p.Tyr157=)
|
rs145883811
|
0.00124
|
NM_024996.7(GFM1):c.690-5C>G
|
rs201685981
|
0.00124
|
NM_000642.3(AGL):c.968G>A (p.Arg323Gln)
|
rs139399527
|
0.00123
|
NM_001035.3(RYR2):c.5586C>T (p.Asp1862=)
|
rs193922628
|
0.00123
|
NM_001164508.2(NEB):c.25035C>T (p.Asp8345=)
|
rs201825451
|
0.00123
|
NM_001386140.1(MTTP):c.2025C>T (p.Ile675=)
|
rs79023226
|
0.00123
|
NM_003865.3(HESX1):c.525G>A (p.Ala175=)
|
rs141063672
|
0.00123
|
NM_005535.3(IL12RB1):c.1172C>T (p.Pro391Leu)
|
rs140254802
|
0.00123
|
NM_006005.3(WFS1):c.2052G>A (p.Ala684=)
|
rs71539668
|
0.00123
|
NM_006996.3(SLC19A2):c.639G>A (p.Lys213=)
|
rs137970656
|
0.00123
|
NM_020376.4(PNPLA2):c.1277A>G (p.Asn426Ser)
|
rs140634178
|
0.00122
|
NM_194248.3(OTOF):c.2381G>A (p.Arg794His)
|
rs80356592
|
0.00122
|
NM_000037.4(ANK1):c.4606C>T (p.Arg1536Cys)
|
rs146416859
|
0.00121
|
NM_000091.5(COL4A3):c.3939G>A (p.Gly1313=)
|
rs141552752
|
0.00121
|
NM_000215.4(JAK3):c.1581G>A (p.Leu527=)
|
rs3213408
|
0.00121
|
NM_000426.4(LAMA2):c.2856+13G>A
|
rs149487202
|
0.00121
|
NM_033100.4(CDHR1):c.1133G>A (p.Arg378Gln)
|
rs140621272
|
0.00121
|
NM_033100.4(CDHR1):c.408C>T (p.Ile136=)
|
rs148125234
|
0.00121
|
NM_000350.3(ABCA4):c.1029T>C (p.Asn343=)
|
rs145483148
|
0.00120
|
NM_000426.4(LAMA2):c.1650C>T (p.Gly550=)
|
rs899353
|
0.00120
|
NM_001195248.2(APTX):c.971A>T (p.Gln324Leu)
|
rs141493373
|
0.00120
|
NM_016955.4(SEPSECS):c.780A>G (p.Ser260=)
|
rs61747281
|
0.00120
|
NM_020451.3(SELENON):c.1602+14C>T
|
rs41284307
|
0.00120
|
NM_000037.4(ANK1):c.997G>A (p.Asp333Asn)
|
rs147608206
|
0.00119
|
NM_000215.4(JAK3):c.1929G>A (p.Leu643=)
|
rs138645044
|
0.00119
|
NM_001875.5(CPS1):c.3643A>G (p.Ile1215Val)
|
rs141373204
|
0.00119
|
NM_005677.4(COLQ):c.106+6T>C
|
rs201376373
|
0.00119
|
NM_000035.4(ALDOB):c.*12C>T
|
rs201867948
|
0.00118
|
NM_000152.5(GAA):c.1830C>T (p.Ala610=)
|
rs61736896
|
0.00118
|
NM_001182.5(ALDH7A1):c.1406G>A (p.Arg469His)
|
rs147940248
|
0.00118
|
NM_002529.4(NTRK1):c.865C>A (p.Gln289Lys)
|
rs137979116
|
0.00118
|
NM_014425.5(INVS):c.2310C>T (p.His770=)
|
rs116606949
|
0.00118
|
NM_017636.4(TRPM4):c.988G>A (p.Glu330Lys)
|
rs145771389
|
0.00118
|
NM_019616.4(F7):c.785G>A (p.Arg262Gln)
|
rs77121822
|
0.00118
|
NM_206933.4(USH2A):c.1179A>G (p.Gln393=)
|
rs148447919
|
0.00118
|
NM_000293.3(PHKB):c.1459-9G>T
|
rs201995780
|
0.00117
|
NM_000527.5(LDLR):c.*19G>A
|
rs56270417
|
0.00117
|
NM_015702.3(MMADHC):c.578T>C (p.Val193Ala)
|
rs147370143
|
0.00117
|
NM_020661.4(AICDA):c.48A>G (p.Lys16=)
|
rs186739900
|
0.00117
|
NM_025099.6(CTC1):c.1720C>T (p.Pro574Ser)
|
rs200440641
|
0.00117
|
NM_000208.4(INSR):c.2243C>T (p.Ser748Leu)
|
rs143523271
|
0.00116
|
NM_000426.4(LAMA2):c.255C>T (p.Ile85=)
|
rs142083777
|
0.00116
|
NM_000527.5(LDLR):c.858C>T (p.Ser286=)
|
rs140241383
|
0.00116
|
NM_000532.5(PCCB):c.338G>A (p.Arg113Gln)
|
rs138246328
|
0.00116
|
NM_001035.3(RYR2):c.12159G>A (p.Glu4053=)
|
rs41267517
|
0.00116
|
NM_004870.4(MPDU1):c.43C>T (p.Pro15Ser)
|
rs148935720
|
0.00116
|
NM_006493.4(CLN5):c.76T>C (p.Trp26Arg)
|
rs199727787
|
0.00116
|
NM_152564.5(VPS13B):c.1832G>A (p.Arg611Lys)
|
rs61754109
|
0.00116
|
NM_000057.4(BLM):c.3849G>A (p.Gln1283=)
|
rs140524886
|
0.00115
|
NM_001130987.2(DYSF):c.4253C>G (p.Pro1418Arg)
|
rs138268837
|
0.00115
|
NM_018136.5(ASPM):c.5947A>T (p.Met1983Leu)
|
rs141715950
|
0.00115
|
NM_000037.4(ANK1):c.1484A>G (p.Asn495Ser)
|
rs142690258
|
0.00114
|
NM_000340.2(SLC2A2):c.1087G>T (p.Ala363Ser)
|
rs76362149
|
0.00114
|
NM_001165963.4(SCN1A):c.4731T>C (p.Asn1577=)
|
rs145296488
|
0.00114
|
NM_002485.5(NBN):c.1317A>G (p.Ile439Met)
|
rs28538230
|
0.00114
|
NM_014855.3(AP5Z1):c.1062C>T (p.His354=)
|
rs192441133
|
0.00114
|
NM_024592.5(SRD5A3):c.110C>T (p.Pro37Leu)
|
rs199975696
|
0.00114
|
NM_025099.6(CTC1):c.147C>T (p.Val49=)
|
rs201492796
|
0.00114
|
NM_130849.4(SLC39A4):c.518C>T (p.Ala173Val)
|
rs141890870
|
0.00114
|
NM_000130.5(F5):c.5265A>G (p.Ile1755Met)
|
rs41272455
|
0.00113
|
NM_000152.5(GAA):c.915G>A (p.Gly305=)
|
rs150343359
|
0.00113
|
NM_000199.5(SGSH):c.1002C>T (p.Ala334=)
|
rs145596938
|
0.00113
|
NM_000642.3(AGL):c.3431T>A (p.Ile1144Asn)
|
rs2230308
|
0.00113
|
NM_001130987.2(DYSF):c.1931T>C (p.Met644Thr)
|
rs141867897
|
0.00113
|
NM_032043.3(BRIP1):c.890A>G (p.Lys297Arg)
|
rs28997570
|
0.00113
|
NM_000152.5(GAA):c.2415G>A (p.Val805=)
|
rs150536507
|
0.00112
|
NM_000170.3(GLDC):c.2988G>C (p.Gln996His)
|
rs138640017
|
0.00112
|
NM_000350.3(ABCA4):c.4050G>C (p.Leu1350=)
|
rs141004967
|
0.00112
|
NM_001130987.2(DYSF):c.2956A>T (p.Met986Leu)
|
rs144636654
|
0.00112
|
NM_001134363.3(RBM20):c.1992C>T (p.Pro664=)
|
rs41292592
|
0.00112
|
NM_001164508.2(NEB):c.177G>A (p.Gln59=)
|
rs200990309
|
0.00112
|
NM_014049.5(ACAD9):c.928G>A (p.Val310Ile)
|
rs139073821
|
0.00112
|
NM_019032.6(ADAMTSL4):c.1893G>A (p.Pro631=)
|
rs112045022
|
0.00112
|
NM_020919.4(ALS2):c.3741T>G (p.Gly1247=)
|
rs3219166
|
0.00112
|
NM_022369.4(STRA6):c.1685-5C>G
|
rs201730717
|
0.00112
|
NM_001384474.1(LOXHD1):c.4217C>T (p.Ala1406Val)
|
rs146739496
|
0.00111
|
NM_001386140.1(MTTP):c.972G>A (p.Glu324=)
|
rs146953015
|
0.00111
|
NM_001457.4(FLNB):c.3522G>A (p.Ser1174=)
|
rs140993979
|
0.00111
|
NM_014908.4(DOLK):c.1079A>G (p.Tyr360Cys)
|
rs138453255
|
0.00111
|
NM_152564.5(VPS13B):c.1248G>T (p.Gln416His)
|
rs143024324
|
0.00111
|
NM_000098.3(CPT2):c.1025T>C (p.Met342Thr)
|
rs144658100
|
0.00110
|
NM_000135.4(FANCA):c.80-13C>T
|
rs189841793
|
0.00110
|
NM_000170.3(GLDC):c.498T>C (p.Pro166=)
|
rs150193069
|
0.00110
|
NM_000249.4(MLH1):c.-28A>G
|
rs56198082
|
0.00110
|
NM_001277115.2(DNAH11):c.12174C>T (p.Ala4058=)
|
rs185794149
|
0.00110
|
NM_002618.4(PEX13):c.893T>C (p.Met298Thr)
|
rs138545154
|
0.00110
|
NM_015166.4(MLC1):c.628G>A (p.Val210Ile)
|
rs11568178
|
0.00110
|
NM_145861.4(EDARADD):c.161-13T>C
|
rs184596437
|
0.00110
|
NM_000138.5(FBN1):c.6681A>C (p.Ser2227=)
|
rs363824
|
0.00109
|
NM_000528.4(MAN2B1):c.1110-8C>T
|
rs201690866
|
0.00109
|
NM_001130987.2(DYSF):c.4629C>G (p.Val1543=)
|
rs142483266
|
0.00109
|
NM_001330078.2(NRXN1):c.4254A>G (p.Pro1418=)
|
rs55923848
|
0.00109
|
NM_002857.4(PEX19):c.181-5C>T
|
rs199818690
|
0.00109
|
NM_005591.4(MRE11):c.426C>T (p.Asp142=)
|
rs3218740
|
0.00109
|
NM_014363.6(SACS):c.7527T>C (p.Tyr2509=)
|
rs140034972
|
0.00109
|
NM_018972.4(GDAP1):c.310+6del
|
rs780828430
|
0.00109
|
NM_022436.3(ABCG5):c.593G>A (p.Arg198Gln)
|
rs141828689
|
0.00109
|
NM_000137.4(FAH):c.565G>A (p.Val189Ile)
|
rs145389125
|
0.00108
|
NM_001164508.2(NEB):c.23267T>C (p.Met7756Thr)
|
rs201767727
|
0.00108
|
NM_001164508.2(NEB):c.4834C>T (p.Arg1612Cys)
|
rs200545007
|
0.00108
|
NM_002863.5(PYGL):c.603G>T (p.Val201=)
|
rs138364932
|
0.00108
|
NM_014244.5(ADAMTS2):c.2795G>A (p.Arg932Gln)
|
rs140022033
|
0.00108
|
NM_052859.4(RFT1):c.303C>G (p.Gly101=)
|
rs148576979
|
0.00108
|
NM_000138.5(FBN1):c.2956G>A (p.Ala986Thr)
|
rs112287730
|
0.00107
|
NM_000141.5(FGFR2):c.23T>G (p.Ile8Ser)
|
rs147307031
|
0.00107
|
NM_000153.4(GALC):c.659G>A (p.Arg220Gln)
|
rs199967869
|
0.00107
|
NM_000515.5(GH1):c.15C>T (p.Ser5=)
|
rs111957225
|
0.00107
|
NM_001127671.2(LIFR):c.2302A>G (p.Arg768Gly)
|
rs139848756
|
0.00107
|
NM_000081.4(LYST):c.7506A>G (p.Gln2502=)
|
rs140434436
|
0.00106
|
NM_000359.3(TGM1):c.106C>A (p.Arg36Ser)
|
rs145197904
|
0.00106
|
NM_001089.3(ABCA3):c.393C>T (p.Ala131=)
|
rs145383120
|
0.00106
|
NM_001369.3(DNAH5):c.1644+12A>G
|
rs201116549
|
0.00106
|
NM_006348.5(COG5):c.1160G>A (p.Arg387His)
|
rs35258567
|
0.00106
|
NM_022124.6(CDH23):c.9670C>T (p.Arg3224Trp)
|
rs111033457
|
0.00106
|
NM_144508.5(KNL1):c.251-7T>A
|
rs555296963
|
0.00106
|
NM_152564.5(VPS13B):c.3516A>G (p.Thr1172=)
|
rs118158347
|
0.00106
|
NM_199242.3(UNC13D):c.2542A>C (p.Ile848Leu)
|
rs144968313
|
0.00106
|
NM_000199.5(SGSH):c.390C>T (p.Thr130=)
|
rs111761143
|
0.00105
|
NM_000271.5(NPC1):c.3217G>A (p.Gly1073Ser)
|
rs141440861
|
0.00105
|
NM_000302.4(PLOD1):c.137G>A (p.Arg46His)
|
rs142710681
|
0.00105
|
NM_138694.4(PKHD1):c.3783C>T (p.Gly1261=)
|
rs138388301
|
0.00105
|
NM_000271.5(NPC1):c.66A>G (p.Ser22=)
|
rs144415945
|
0.00104
|
NM_000371.4(TTR):c.417G>A (p.Thr139=)
|
rs2276382
|
0.00104
|
NM_006493.4(CLN5):c.-146T>C
|
rs201615354
|
0.00104
|
NM_032043.3(BRIP1):c.790C>T (p.Arg264Trp)
|
rs28997569
|
0.00104
|
NM_201253.3(CRB1):c.2103C>G (p.Pro701=)
|
rs144436610
|
0.00104
|
NM_000051.4(ATM):c.4388T>G (p.Phe1463Cys)
|
rs138327406
|
0.00103
|
NM_000271.5(NPC1):c.3198C>T (p.Thr1066=)
|
rs145145840
|
0.00103
|
NM_000543.5(SMPD1):c.1091+9C>T
|
rs143612450
|
0.00103
|
NM_001042432.2(CLN3):c.768C>T (p.Thr256=)
|
rs145967477
|
0.00103
|
NM_001160372.4(TRAPPC9):c.3149G>A (p.Arg1050Gln)
|
rs111768745
|
0.00103
|
NM_001277115.2(DNAH11):c.13257A>G (p.Gly4419=)
|
rs200445638
|
0.00103
|
NM_002617.4(PEX10):c.601-27A>G
|
rs144264865
|
0.00103
|
NM_004239.4(TRIP11):c.1280T>C (p.Leu427Ser)
|
rs34761938
|
0.00103
|
NM_005591.4(MRE11):c.1798G>C (p.Glu600Gln)
|
rs145415033
|
0.00103
|
NM_015192.4(PLCB1):c.1230G>A (p.Ser410=)
|
rs148848282
|
0.00103
|
NM_022356.4(P3H1):c.1504G>C (p.Gly502Arg)
|
rs139259804
|
0.00103
|
NM_024079.5(ALG8):c.1211C>T (p.Ser404Leu)
|
rs146603801
|
0.00103
|
NM_052859.4(RFT1):c.826+7T>C
|
rs192264403
|
0.00103
|
NM_000215.4(JAK3):c.252G>A (p.Pro84=)
|
rs139738701
|
0.00102
|
NM_000352.6(ABCC8):c.3203C>T (p.Thr1068Met)
|
rs139524121
|
0.00102
|
NM_000436.4(OXCT1):c.1080T>C (p.Asp360=)
|
rs140869022
|
0.00102
|
NM_001134363.3(RBM20):c.280C>T (p.Leu94=)
|
rs182768779
|
0.00102
|
NM_001164508.2(NEB):c.18262-13C>T
|
rs374553944
|
0.00102
|
NM_001355436.2(SPTB):c.3015C>T (p.Ala1005=)
|
rs147235045
|
0.00102
|
NM_001875.5(CPS1):c.637G>A (p.Gly213Ser)
|
rs138392504
|
0.00102
|
NM_005787.6(ALG3):c.845C>T (p.Ala282Val)
|
rs2233466
|
0.00102
|
NM_006096.4(NDRG1):c.789G>A (p.Ser263=)
|
rs61755062
|
0.00102
|
NM_014244.5(ADAMTS2):c.748G>A (p.Ala250Thr)
|
rs143764421
|
0.00102
|
NM_014908.4(DOLK):c.700A>G (p.Met234Val)
|
rs139787271
|
0.00102
|
NM_138694.4(PKHD1):c.5478G>A (p.Ala1826=)
|
rs137925439
|
0.00102
|
NM_000037.4(ANK1):c.3102C>T (p.Asn1034=)
|
rs145169484
|
0.00101
|
NM_000046.5(ARSB):c.82C>T (p.Leu28=)
|
rs138587718
|
0.00101
|
NM_000100.4(CSTB):c.121G>A (p.Val41Met)
|
rs143153487
|
0.00101
|
NM_000152.5(GAA):c.726G>A (p.Ala242=)
|
rs148578399
|
0.00101
|
NM_000155.4(GALT):c.919T>A (p.Ser307Thr)
|
rs61735983
|
0.00101
|
NM_000162.5(GCK):c.-455A>G
|
rs140894490
|
0.00101
|
NM_000286.3(PEX12):c.722G>T (p.Gly241Val)
|
rs139417458
|
0.00101
|
NM_000492.4(CFTR):c.3897A>G (p.Thr1299=)
|
rs1800131
|
0.00101
|
NM_001101426.4(CRPPA):c.790-11C>T
|
rs141363557
|
0.00101
|
NM_001126108.2(SLC12A3):c.1567+7C>T
|
rs376819753
|
0.00101
|
NM_001482.3(GATM):c.69+13C>T
|
rs573273215
|
0.00101
|
NM_001491.3(GCNT2):c.254C>G (p.Pro85Arg)
|
rs17637756
|
0.00101
|
NM_006623.4(PHGDH):c.1559C>A (p.Ala520Glu)
|
rs151275800
|
0.00101
|
NM_007078.3(LDB3):c.897-6834C>T
|
rs185972751
|
0.00101
|
NM_014141.6(CNTNAP2):c.73G>A (p.Ala25Thr)
|
rs200866893
|
0.00101
|
NM_015272.5(RPGRIP1L):c.1072T>C (p.Leu358=)
|
rs147295026
|
0.00101
|
NM_022124.6(CDH23):c.-15C>A
|
rs760922529
|
0.00101
|
NM_024592.5(SRD5A3):c.566A>C (p.Tyr189Ser)
|
rs35496669
|
0.00101
|
NM_138694.4(PKHD1):c.275G>A (p.Arg92Gln)
|
rs145886657
|
0.00101
|
NM_000350.3(ABCA4):c.317A>T (p.Tyr106Phe)
|
rs201150919
|
0.00100
|
NM_000520.6(HEXA):c.1107C>T (p.Gly369=)
|
rs140337137
|
0.00100
|
NM_014244.5(ADAMTS2):c.2958+4C>T
|
rs375345961
|
0.00100
|
NM_019892.6(INPP5E):c.1506G>A (p.Pro502=)
|
rs74880446
|
0.00100
|
NM_022369.4(STRA6):c.357C>T (p.Pro119=)
|
rs139775570
|
0.00100
|
NM_030777.4(SLC2A10):c.515C>T (p.Thr172Ile)
|
rs143301610
|
0.00100
|
NM_133642.5(LARGE1):c.1092C>T (p.Thr364=)
|
rs144216539
|
0.00100
|
NM_000037.4(ANK1):c.2960+13G>T
|
rs200746947
|
0.00099
|
NM_003172.4(SURF1):c.211G>C (p.Val71Leu)
|
rs147993882
|
0.00099
|
NM_003849.4(SUCLG1):c.236G>A (p.Gly79Asp)
|
rs143030960
|
0.00099
|
NM_014363.6(SACS):c.4015A>C (p.Ile1339Leu)
|
rs143144795
|
0.00099
|
NM_014363.6(SACS):c.9852A>G (p.Thr3284=)
|
rs147506904
|
0.00099
|
NM_020919.4(ALS2):c.3046C>G (p.Pro1016Ala)
|
rs41308840
|
0.00099
|
NM_000027.4(AGA):c.762C>T (p.Ala254=)
|
rs145465919
|
0.00098
|
NM_000057.4(BLM):c.3879A>G (p.Glu1293=)
|
rs28377085
|
0.00098
|
NM_000426.4(LAMA2):c.6161A>G (p.Gln2054Arg)
|
rs56035053
|
0.00098
|
NM_000687.4(AHCY):c.219+7C>G
|
rs200332864
|
0.00098
|
NM_001126108.2(SLC12A3):c.1284C>T (p.Thr428=)
|
rs34216426
|
0.00098
|
NM_001384474.1(LOXHD1):c.4440G>A (p.Val1480=)
|
rs76946640
|
0.00098
|
NM_001457.4(FLNB):c.1697G>A (p.Arg566Gln)
|
rs150747960
|
0.00098
|
NM_012434.5(SLC17A5):c.85G>A (p.Ala29Thr)
|
rs141463026
|
0.00098
|
NM_021922.3(FANCE):c.696G>A (p.Glu232=)
|
rs147356927
|
0.00098
|
NM_000199.5(SGSH):c.1446C>T (p.Ala482=)
|
rs113679696
|
0.00097
|
NM_000350.3(ABCA4):c.1500G>A (p.Arg500=)
|
rs139050119
|
0.00097
|
NM_001349206.2(LPIN1):c.1225C>G (p.Gln409Glu)
|
rs146529487
|
0.00097
|
NM_000051.4(ATM):c.2289T>A (p.Phe763Leu)
|
rs34231402
|
0.00096
|
NM_000126.4(ETFA):c.826A>C (p.Ile276Leu)
|
rs141200145
|
0.00096
|
NM_000282.4(PCCA):c.2172C>T (p.Leu724=)
|
rs150352833
|
0.00096
|
NM_000751.3(CHRND):c.1400G>A (p.Arg467His)
|
rs148939701
|
0.00096
|
NM_001005242.3(PKP2):c.505A>G (p.Ser169Gly)
|
rs139139859
|
0.00096
|
NM_001042432.1(CLN3):c.-264C>G
|
rs187163584
|
0.00096
|
NM_001130987.2(DYSF):c.1447A>G (p.Met483Val)
|
rs141818764
|
0.00096
|
NM_001457.4(FLNB):c.808A>G (p.Met270Val)
|
rs145036794
|
0.00096
|
NM_006348.5(COG5):c.298C>T (p.Leu100Phe)
|
rs150351852
|
0.00096
|
NM_017837.4(PIGV):c.348G>A (p.Leu116=)
|
rs148662665
|
0.00096
|
NM_000170.3(GLDC):c.2964G>A (p.Arg988=)
|
rs146045718
|
0.00095
|
NM_004239.4(TRIP11):c.4063T>A (p.Ser1355Thr)
|
rs138661581
|
0.00095
|
NM_000123.4(ERCC5):c.1110T>A (p.Arg370=)
|
rs150791877
|
0.00094
|
NM_000817.3(GAD1):c.1173C>T (p.Asn391=)
|
rs34856125
|
0.00094
|
NM_000817.3(GAD1):c.1251C>T (p.Leu417=)
|
rs35426017
|
0.00094
|
NM_000817.3(GAD1):c.807G>A (p.Pro269=)
|
rs34100397
|
0.00094
|
NM_003465.3(CHIT1):c.447C>T (p.Ala149=)
|
rs139891908
|
0.00094
|
NM_014714.4(IFT140):c.1824A>G (p.Thr608=)
|
rs35433680
|
0.00094
|
NM_015272.5(RPGRIP1L):c.1156A>G (p.Lys386Glu)
|
rs137982921
|
0.00094
|
NM_017636.4(TRPM4):c.2740A>T (p.Lys914Ter)
|
rs140799936
|
0.00094
|
NM_024079.5(ALG8):c.251A>G (p.Tyr84Cys)
|
rs61995921
|
0.00094
|
NM_198525.3(KIF7):c.3960T>A (p.Pro1320=)
|
rs141028210
|
0.00094
|
NM_000016.6(ACADM):c.994C>T (p.Leu332=)
|
rs138098371
|
0.00093
|
NM_000057.4(BLM):c.3359-13A>G
|
rs200250931
|
0.00093
|
NM_000094.4(COL7A1):c.8568C>T (p.Ser2856=)
|
rs148454724
|
0.00093
|
NM_000466.3(PEX1):c.2926+8T>C
|
rs369877998
|
0.00093
|
NM_001244710.2(GFPT1):c.1882G>A (p.Val628Ile)
|
rs190072721
|
0.00093
|
NM_001360.3(DHCR7):c.199G>A (p.Ala67Thr)
|
rs143999854
|
0.00093
|
NM_001395413.1(POR):c.308A>G (p.His103Arg)
|
rs200622912
|
0.00093
|
NM_006019.4(TCIRG1):c.1536C>T (p.Tyr512=)
|
rs138049763
|
0.00093
|
NM_012472.6(DNAAF11):c.31C>T (p.Arg11Trp)
|
rs115536785
|
0.00093
|
NM_032634.4(PIGO):c.3163T>C (p.Phe1055Leu)
|
rs147316771
|
0.00093
|
NM_000137.4(FAH):c.1205G>A (p.Arg402His)
|
rs147796599
|
0.00092
|
NM_000512.5(GALNS):c.303C>T (p.Asn101=)
|
rs79146426
|
0.00092
|
NM_000709.4(BCKDHA):c.708C>T (p.Phe236=)
|
rs146932786
|
0.00092
|
NM_001277115.2(DNAH11):c.9773A>G (p.Tyr3258Cys)
|
rs182808328
|
0.00092
|
NM_002693.3(POLG):c.2207A>G (p.Asn736Ser)
|
rs138457939
|
0.00092
|
NM_003560.4(PLA2G6):c.1615G>A (p.Gly539Ser)
|
rs143826762
|
0.00092
|
NM_004132.5(HABP2):c.1379G>C (p.Gly460Ala)
|
rs113091571
|
0.00092
|
NM_014049.5(ACAD9):c.453+8A>G
|
rs199919500
|
0.00092
|
NM_014391.3(ANKRD1):c.197G>A (p.Arg66Gln)
|
rs150797476
|
0.00092
|
NM_014855.3(AP5Z1):c.558C>T (p.Tyr186=)
|
rs371534878
|
0.00092
|
NM_144508.5(KNL1):c.2949A>G (p.Leu983=)
|
rs201182330
|
0.00092
|
NM_000136.3(FANCC):c.178G>A (p.Val60Ile)
|
rs138629441
|
0.00091
|
NM_000138.5(FBN1):c.783T>C (p.Asn261=)
|
rs113721547
|
0.00091
|
NM_000218.3(KCNQ1):c.*1025G>C
|
rs181226788
|
0.00091
|
NM_000310.4(PPT1):c.904A>G (p.Ile302Val)
|
rs146902902
|
0.00091
|
NM_000426.4(LAMA2):c.1782+10C>T
|
rs200030296
|
0.00091
|
NM_000426.4(LAMA2):c.9211+6T>C
|
rs201375881
|
0.00091
|
NM_001080.3(ALDH5A1):c.354+14G>A
|
rs572861590
|
0.00091
|
NM_004525.3(LRP2):c.4831C>T (p.Leu1611=)
|
rs151079411
|
0.00091
|
NM_006892.4(DNMT3B):c.886G>A (p.Val296Ile)
|
rs145632647
|
0.00091
|
NM_022089.4(ATP13A2):c.951C>T (p.Cys317=)
|
rs148391179
|
0.00091
|
NM_152564.5(VPS13B):c.10905T>C (p.Pro3635=)
|
rs61754107
|
0.00091
|
NM_000260.4(MYO7A):c.1554+7C>T
|
rs150114658
|
0.00090
|
NM_000350.3(ABCA4):c.1411G>A (p.Glu471Lys)
|
rs1800548
|
0.00090
|
NM_000492.4(CFTR):c.1523T>G (p.Phe508Cys)
|
rs74571530
|
0.00090
|
NM_001384732.1(CPLANE1):c.4517A>G (p.His1506Arg)
|
rs141911199
|
0.00090
|
NM_002778.4(PSAP):c.174+9C>T
|
rs141133813
|
0.00090
|
NM_006005.3(WFS1):c.683G>A (p.Arg228His)
|
rs150771247
|
0.00090
|
NM_000290.4(PGAM2):c.459C>T (p.Cys153=)
|
rs143809043
|
0.00089
|
NM_000751.3(CHRND):c.919C>T (p.Pro307Ser)
|
rs142063328
|
0.00089
|
NM_001160372.4(TRAPPC9):c.3414T>G (p.Ser1138Arg)
|
rs147127279
|
0.00089
|
NM_001395413.1(POR):c.678C>T (p.Ala226=)
|
rs72557906
|
0.00089
|
NM_003748.4(ALDH4A1):c.1261T>C (p.Cys421Arg)
|
rs149414160
|
0.00089
|
NM_005142.3(CBLIF):c.910C>T (p.Pro304Ser)
|
rs150926439
|
0.00089
|
NM_005546.4(ITK):c.1510A>T (p.Thr504Ser)
|
rs151046132
|
0.00089
|
NM_000528.4(MAN2B1):c.455A>G (p.Asn152Ser)
|
rs200164758
|
0.00088
|
NM_012463.4(ATP6V0A2):c.2229T>C (p.Cys743=)
|
rs150508296
|
0.00088
|
NM_014339.7(IL17RA):c.465G>C (p.Gln155His)
|
rs142199303
|
0.00088
|
NM_053025.4(MYLK):c.3832-6C>T
|
rs185681684
|
0.00088
|
NM_000249.4(MLH1):c.1217G>A (p.Ser406Asn)
|
rs41294980
|
0.00087
|
NM_000282.4(PCCA):c.2040+11dup
|
rs779884567
|
0.00087
|
NM_000426.4(LAMA2):c.6708-3A>C
|
rs112637707
|
0.00087
|
NM_000520.6(HEXA):c.1527-6T>C
|
rs199914308
|
0.00087
|
NM_001166114.2(PNPLA6):c.3912C>T (p.Asp1304=)
|
rs149871062
|
0.00087
|
NM_001267550.2(TTN):c.5479G>T (p.Ala1827Ser)
|
rs141213991
|
0.00087
|
NM_001352514.2(HLCS):c.1695C>T (p.Leu565=)
|
rs138209330
|
0.00087
|
NM_001366722.1(GRIP1):c.160G>A (p.Val54Ile)
|
rs199768740
|
0.00087
|
NM_001887.4(CRYBB1):c.156G>A (p.Ala52=)
|
rs149902597
|
0.00087
|
NM_014363.6(SACS):c.12813T>G (p.Pro4271=)
|
rs146376949
|
0.00087
|
NM_138694.4(PKHD1):c.2255C>T (p.Thr752Met)
|
rs200654041
|
0.00087
|
NM_000035.4(ALDOB):c.543T>G (p.Asn181Lys)
|
rs35885472
|
0.00086
|
NM_000081.4(LYST):c.8027G>T (p.Ser2676Ile)
|
rs113209379
|
0.00086
|
NM_000183.3(HADHB):c.1206C>T (p.Tyr402=)
|
rs146538551
|
0.00086
|
NM_000426.4(LAMA2):c.922G>A (p.Glu308Lys)
|
rs146462599
|
0.00086
|
NM_001136472.2(LITAF):c.146C>T (p.Thr49Met)
|
rs141862602
|
0.00086
|
NM_001370658.1(BTD):c.1041C>T (p.Gly347=)
|
rs142421934
|
0.00086
|
NM_003283.6(TNNT1):c.750+15C>T
|
rs138664823
|
0.00086
|
NM_005726.6(TSFM):c.69T>A (p.Leu23=)
|
rs147317818
|
0.00086
|
NM_014244.5(ADAMTS2):c.2267T>C (p.Val756Ala)
|
rs141650732
|
0.00086
|
NM_014714.4(IFT140):c.4297C>T (p.Arg1433Cys)
|
rs141392067
|
0.00086
|
NM_017777.4(MKS1):c.27C>T (p.Asp9=)
|
rs369488349
|
0.00086
|
NM_031885.5(BBS2):c.1380C>T (p.Phe460=)
|
rs141046144
|
0.00086
|
NM_001033855.3(DCLRE1C):c.1101A>G (p.Pro367=)
|
rs143782439
|
0.00085
|
NM_003060.4(SLC22A5):c.934A>G (p.Ile312Val)
|
rs77300588
|
0.00085
|
NM_015272.5(RPGRIP1L):c.2240G>A (p.Arg747Gln)
|
rs142349647
|
0.00085
|
NM_016938.5(EFEMP2):c.934A>G (p.Thr312Ala)
|
rs148410446
|
0.00085
|
NM_022098.4(XPNPEP3):c.817A>G (p.Ser273Gly)
|
rs138501598
|
0.00085
|
NM_032444.4(SLX4):c.3774C>T (p.Pro1258=)
|
rs146054214
|
0.00085
|
NM_178452.6(DNAAF1):c.1354C>A (p.Pro452Thr)
|
rs145680314
|
0.00085
|
NM_000211.5(ITGB2):c.2050C>T (p.Arg684Cys)
|
rs147238010
|
0.00084
|
NM_003640.5(ELP1):c.203G>T (p.Ser68Ile)
|
rs143723093
|
0.00084
|
NM_004525.3(LRP2):c.987G>A (p.Ala329=)
|
rs141751667
|
0.00084
|
NM_032634.4(PIGO):c.626A>G (p.Asn209Ser)
|
rs138028827
|
0.00084
|
NM_000154.2(GALK1):c.864G>C (p.Thr288=)
|
rs201247556
|
0.00083
|
NM_000340.2(SLC2A2):c.1432C>G (p.Leu478Val)
|
rs5397
|
0.00083
|
NM_000441.2(SLC26A4):c.1061T>C (p.Phe354Ser)
|
rs111033243
|
0.00083
|
NM_000492.4(CFTR):c.443T>C (p.Ile148Thr)
|
rs35516286
|
0.00083
|
NM_000784.4(CYP27A1):c.703G>A (p.Glu235Lys)
|
rs149897566
|
0.00083
|
NM_006005.3(WFS1):c.966C>T (p.His322=)
|
rs140196582
|
0.00083
|
NM_006623.4(PHGDH):c.682G>T (p.Gly228Trp)
|
rs139063843
|
0.00083
|
NM_024105.4(ALG12):c.1299C>T (p.Leu433=)
|
rs150614794
|
0.00083
|
NM_138959.3(VANGL1):c.274A>G (p.Ile92Val)
|
rs143196463
|
0.00083
|
NM_001127671.2(LIFR):c.2934G>A (p.Gln978=)
|
rs148354076
|
0.00082
|
NM_001130987.2(DYSF):c.2335G>A (p.Gly779Ser)
|
rs138654170
|
0.00082
|
NM_001130987.2(DYSF):c.4428C>T (p.Ile1476=)
|
rs145690047
|
0.00082
|
NM_000130.5(F5):c.4405T>C (p.Ser1469Pro)
|
rs144262027
|
0.00081
|
NM_000159.4(GCDH):c.471C>T (p.Ser157=)
|
rs146682905
|
0.00081
|
NM_000203.5(IDUA):c.408C>T (p.Ala136=)
|
rs138195998
|
0.00081
|
NM_000365.6(TPI1):c.366C>T (p.Leu122=)
|
rs138131191
|
0.00081
|
NM_000410.4(HFE):c.829G>A (p.Glu277Lys)
|
rs140080192
|
0.00081
|
NM_001048174.2(MUTYH):c.1192C>T (p.Arg398Cys)
|
rs150792276
|
0.00081
|
NM_001142800.2(EYS):c.2562C>T (p.Asp854=)
|
rs188011013
|
0.00081
|
NM_001277115.2(DNAH11):c.11374A>G (p.Ile3792Val)
|
rs201700629
|
0.00081
|
NM_001377.3(DYNC2H1):c.10845G>A (p.Pro3615=)
|
rs187451323
|
0.00081
|
NM_001377.3(DYNC2H1):c.5695G>A (p.Val1899Ile)
|
rs150887098
|
0.00081
|
NM_001875.5(CPS1):c.2192+6A>T
|
rs201058019
|
0.00081
|
NM_004577.4(PSPH):c.455C>T (p.Thr152Ile)
|
rs147304638
|
0.00081
|
NM_005609.4(PYGM):c.848A>G (p.Asn283Ser)
|
rs114468011
|
0.00081
|
NM_012472.6(DNAAF11):c.719T>C (p.Leu240Ser)
|
rs147849568
|
0.00081
|
NM_023036.6(DNAI2):c.1715C>T (p.Pro572Leu)
|
rs151241589
|
0.00081
|
NM_000108.5(DLD):c.788G>A (p.Arg263His)
|
rs145670503
|
0.00080
|
NM_000426.4(LAMA2):c.8282T>C (p.Ile2761Thr)
|
rs115650537
|
0.00080
|
NM_000521.4(HEXB):c.1082+13C>T
|
rs201428805
|
0.00080
|
NM_000532.5(PCCB):c.882C>T (p.Pro294=)
|
rs142730126
|
0.00080
|
NM_000540.3(RYR1):c.7536C>T (p.Ile2512=)
|
rs368560744
|
0.00080
|
NM_001040716.2(PC):c.2550C>T (p.Cys850=)
|
rs61749179
|
0.00080
|
NM_001256545.2(MEGF10):c.1975+10G>A
|
rs148814585
|
0.00080
|
NM_001277115.2(DNAH11):c.13049+15C>T
|
rs200860431
|
0.00080
|
NM_001692.4(ATP6V1B1):c.264G>A (p.Ala88=)
|
rs147576439
|
0.00080
|
NM_006397.3(RNASEH2A):c.758T>C (p.Ile253Thr)
|
rs145662304
|
0.00080
|
NM_206933.4(USH2A):c.1663C>G (p.Leu555Val)
|
rs35818432
|
0.00080
|
NM_000016.6(ACADM):c.645T>A (p.Ala215=)
|
rs147395095
|
0.00079
|
NM_000126.4(ETFA):c.533C>G (p.Thr178Arg)
|
rs140169311
|
0.00079
|
NM_001277115.2(DNAH11):c.12632C>T (p.Pro4211Leu)
|
rs142585703
|
0.00079
|
NM_002474.3(MYH11):c.2005C>T (p.Arg669Cys)
|
rs111404182
|
0.00079
|
NM_003060.4(SLC22A5):c.1380C>T (p.Asn460=)
|
rs149521997
|
0.00079
|
NM_014855.3(AP5Z1):c.999C>T (p.Asp333=)
|
rs201196622
|
0.00079
|
NM_024312.5(GNPTAB):c.3516T>C (p.Tyr1172=)
|
rs201592854
|
0.00079
|
NM_000203.5(IDUA):c.234C>T (p.Gly78=)
|
rs138932617
|
0.00078
|
NM_000271.5(NPC1):c.1947+8G>C
|
rs66620415
|
0.00078
|
NM_000350.3(ABCA4):c.1932C>T (p.Asp644=)
|
rs117400594
|
0.00078
|
NM_000528.4(MAN2B1):c.1230+9G>C
|
rs367590716
|
0.00078
|
NM_001134363.3(RBM20):c.1179C>T (p.Pro393=)
|
rs200588338
|
0.00078
|
NM_001360.3(DHCR7):c.1012G>A (p.Val338Met)
|
rs72954276
|
0.00078
|
NM_001918.5(DBT):c.327C>T (p.Thr109=)
|
rs138796800
|
0.00078
|
NM_002693.3(POLG):c.2853C>T (p.Tyr951=)
|
rs41546712
|
0.00078
|
NM_016123.4(IRAK4):c.291G>A (p.Ala97=)
|
rs17851028
|
0.00078
|
NM_017636.4(TRPM4):c.2561A>G (p.Gln854Arg)
|
rs172155862
|
0.00078
|
NM_020533.3(MCOLN1):c.1584C>T (p.Gly528=)
|
rs145386883
|
0.00078
|
NM_021645.6(UTP14C):c.-486-6T>C
|
rs200751186
|
0.00078
|
NM_152269.5(MTRFR):c.413A>G (p.Lys138Arg)
|
rs147328685
|
0.00078
|
NM_152564.5(VPS13B):c.5606C>T (p.Thr1869Met)
|
rs117148013
|
0.00078
|
NM_000512.5(GALNS):c.324C>T (p.Tyr108=)
|
rs150582627
|
0.00077
|
NM_000528.4(MAN2B1):c.1521G>T (p.Ala507=)
|
rs143318498
|
0.00077
|
NM_000535.7(PMS2):c.2187C>G (p.Leu729=)
|
rs373630535
|
0.00077
|
NM_001377.3(DYNC2H1):c.2550G>A (p.Leu850=)
|
rs375307767
|
0.00077
|
NM_005327.7(HADH):c.*600C>T
|
rs544321475
|
0.00077
|
NM_005609.4(PYGM):c.1787A>G (p.Asn596Ser)
|
rs150622626
|
0.00077
|
NM_014252.4(SLC25A15):c.564C>T (p.Phe188=)
|
rs141028076
|
0.00077
|
NM_030777.4(SLC2A10):c.816C>G (p.Ala272=)
|
rs148058006
|
0.00077
|
NM_052989.3(IFT122):c.214T>G (p.Ser72Ala)
|
rs144140226
|
0.00077
|
NM_152419.3(HGSNAT):c.342C>T (p.Asn114=)
|
rs184883937
|
0.00077
|
NM_000340.2(SLC2A2):c.158G>A (p.Arg53Gln)
|
rs145210664
|
0.00076
|
NM_000341.4(SLC3A1):c.788G>C (p.Ser263Thr)
|
rs139310305
|
0.00076
|
NM_001256545.2(MEGF10):c.1130+3G>A
|
rs115184652
|
0.00076
|
NM_003764.4(STX11):c.26T>G (p.Leu9Arg)
|
rs34470310
|
0.00076
|
NM_004453.4(ETFDH):c.832-10T>G
|
rs200911913
|
0.00076
|
NM_006005.3(WFS1):c.1152C>T (p.Phe384=)
|
rs149846741
|
0.00076
|
NM_017739.4(POMGNT1):c.*34G>A
|
rs200540049
|
0.00076
|
NM_019040.5(ELP4):c.*2982G>A
|
rs191399467
|
0.00076
|
NM_020366.4(RPGRIP1):c.2555G>A (p.Arg852Gln)
|
rs181758389
|
0.00076
|
NM_138694.4(PKHD1):c.10926G>A (p.Met3642Ile)
|
rs78518523
|
0.00076
|
NM_152564.5(VPS13B):c.2596G>A (p.Val866Ile)
|
rs150185067
|
0.00076
|
NM_194318.4(B3GLCT):c.850+11G>A
|
rs199615610
|
0.00076
|
NM_000073.3(CD3G):c.56G>A (p.Gly19Asp)
|
rs146393315
|
0.00075
|
NM_001018115.3(FANCD2):c.78A>C (p.Gln26His)
|
rs45510294
|
0.00075
|
NM_001130987.2(DYSF):c.6174-9C>T
|
rs201070766
|
0.00075
|
NM_001164508.2(NEB):c.7581C>T (p.Tyr2527=)
|
rs200425929
|
0.00075
|
NM_001368894.2(PAX6):c.873G>A (p.Gln291=)
|
rs149053004
|
0.00075
|
NM_006397.3(RNASEH2A):c.328A>C (p.Lys110Gln)
|
rs143029477
|
0.00075
|
NM_020166.5(MCCC1):c.1792C>A (p.Leu598Met)
|
rs138480247
|
0.00075
|
NM_022089.4(ATP13A2):c.106-8G>A
|
rs200587951
|
0.00075
|
NM_052989.3(IFT122):c.1026C>T (p.Asp342=)
|
rs79187669
|
0.00075
|
NM_138694.4(PKHD1):c.7912-5T>G
|
rs371510537
|
0.00075
|
NM_000130.5(F5):c.5431A>T (p.Met1811Leu)
|
rs138877178
|
0.00074
|
NM_000426.4(LAMA2):c.7869A>G (p.Glu2623=)
|
rs140658201
|
0.00074
|
NM_000426.4(LAMA2):c.8586T>C (p.Tyr2862=)
|
rs142451929
|
0.00074
|
NM_000553.6(WRN):c.3059G>A (p.Arg1020His)
|
rs115298665
|
0.00074
|
NM_001017420.3(ESCO2):c.1013+7A>G
|
rs149494070
|
0.00074
|
NM_004453.4(ETFDH):c.1049G>A (p.Arg350Gln)
|
rs139306043
|
0.00074
|
NM_006031.6(PCNT):c.4675A>T (p.Met1559Leu)
|
rs180775012
|
0.00074
|
NM_133259.4(LRPPRC):c.1928A>G (p.His643Arg)
|
rs148575027
|
0.00074
|
NM_152564.5(VPS13B):c.2704A>G (p.Lys902Glu)
|
rs149531438
|
0.00074
|
NM_000178.4(GSS):c.1158G>A (p.Leu386=)
|
rs141866304
|
0.00073
|
NM_000254.3(MTR):c.1141G>A (p.Ala381Thr)
|
rs144777709
|
0.00073
|
NM_000274.4(OAT):c.1224T>C (p.His408=)
|
rs201864147
|
0.00073
|
NM_000341.4(SLC3A1):c.1126G>A (p.Gly376Ser)
|
rs143068960
|
0.00073
|
NM_000532.5(PCCB):c.429+7G>A
|
rs201986472
|
0.00073
|
NM_001005242.3(PKP2):c.1171-10T>C
|
rs200122872
|
0.00073
|
NM_001126108.2(SLC12A3):c.2028C>T (p.His676=)
|
rs35070204
|
0.00073
|
NM_003060.4(SLC22A5):c.279G>C (p.Ser93=)
|
rs377734902
|
0.00073
|
NM_003119.4(SPG7):c.1324+10C>T
|
rs202070075
|
0.00073
|
NM_003119.4(SPG7):c.1933T>A (p.Ser645Thr)
|
rs2099104
|
0.00073
|
NM_003640.5(ELP1):c.3347-15A>G
|
rs200154542
|
0.00073
|
NM_014855.3(AP5Z1):c.1773C>T (p.Tyr591=)
|
rs372922535
|
0.00073
|
NM_018389.5(SLC35C1):c.748G>A (p.Gly250Arg)
|
rs148606857
|
0.00073
|
NM_020376.4(PNPLA2):c.964C>T (p.Leu322Phe)
|
rs137866968
|
0.00073
|
NM_025243.4(SLC19A3):c.1145G>A (p.Ser382Asn)
|
rs145288025
|
0.00073
|
NM_052945.4(TNFRSF13C):c.436C>T (p.Pro146Ser)
|
rs151243201
|
0.00073
|
NM_080424.4(SP110):c.1706+4A>T
|
rs201034113
|
0.00073
|
NM_152783.5(D2HGDH):c.1140+8G>A
|
rs369135156
|
0.00073
|
NM_172250.3(MMAA):c.966A>G (p.Pro322=)
|
rs150692463
|
0.00073
|
NM_206933.4(USH2A):c.2001C>T (p.His667=)
|
rs142870255
|
0.00073
|
NM_000260.4(MYO7A):c.5904C>T (p.His1968=)
|
rs41298753
|
0.00072
|
NM_000535.7(PMS2):c.2149G>A (p.Val717Met)
|
rs201671325
|
0.00072
|
NM_001130987.2(DYSF):c.4859G>A (p.Arg1620His)
|
rs185596534
|
0.00072
|
NM_001160372.4(TRAPPC9):c.263C>T (p.Ser88Leu)
|
rs139631202
|
0.00072
|
NM_001164508.2(NEB):c.22005G>A (p.Thr7335=)
|
rs201400523
|
0.00072
|
NM_003238.6(TGFB2):c.303G>A (p.Lys101=)
|
rs147052890
|
0.00072
|
NM_014141.6(CNTNAP2):c.2508T>C (p.Phe836=)
|
rs149185385
|
0.00072
|
NM_014336.5(AIPL1):c.780C>T (p.His260=)
|
rs145304845
|
0.00072
|
NM_152383.5(DIS3L2):c.410A>G (p.Tyr137Cys)
|
rs201733073
|
0.00072
|
NM_152564.5(VPS13B):c.11613C>T (p.Phe3871=)
|
rs139436386
|
0.00072
|
NM_000282.4(PCCA):c.1896A>G (p.Thr632=)
|
rs61760965
|
0.00071
|
NM_000289.6(PFKM):c.453G>A (p.Thr151=)
|
rs144370737
|
0.00071
|
NM_001130987.2(DYSF):c.5266C>T (p.Arg1756Trp)
|
rs148541407
|
0.00071
|
NM_001384474.1(LOXHD1):c.1815C>T (p.Asp605=)
|
rs201388780
|
0.00071
|
NM_001457.4(FLNB):c.3288C>T (p.Ser1096=)
|
rs77934864
|
0.00071
|
NM_002693.3(POLG):c.578G>A (p.Arg193Gln)
|
rs3176162
|
0.00071
|
NM_014363.6(SACS):c.1885G>A (p.Ala629Thr)
|
rs149638449
|
0.00071
|
NM_014908.4(DOLK):c.1314C>T (p.Leu438=)
|
rs148118523
|
0.00071
|
NM_015166.4(MLC1):c.627C>T (p.Ala209=)
|
rs138153307
|
0.00071
|
NM_024513.4(FYCO1):c.1248G>A (p.Lys416=)
|
rs149643762
|
0.00071
|
NM_213653.4(HJV):c.510C>T (p.Phe170=)
|
rs139281553
|
0.00071
|
NM_000153.4(GALC):c.-67T>G
|
rs571945132
|
0.00070
|
NM_000274.4(OAT):c.48C>T (p.Arg16=)
|
rs143526711
|
0.00070
|
NM_000275.3(OCA2):c.1857C>T (p.Asp619=)
|
rs7164127
|
0.00070
|
NM_000817.3(GAD1):c.1611+5G>A
|
rs147201199
|
0.00070
|
NM_001277115.2(DNAH11):c.695C>T (p.Pro232Leu)
|
rs200454446
|
0.00070
|
NM_003896.4(ST3GAL5):c.1212G>A (p.Glu404=)
|
rs148195895
|
0.00070
|
NM_007194.4(CHEK2):c.320-5T>A
|
rs121908700
|
0.00070
|
NM_012275.3(IL36RN):c.363G>A (p.Leu121=)
|
rs151274071
|
0.00070
|
NM_020320.5(RARS2):c.456T>C (p.Asn152=)
|
rs141374913
|
0.00070
|
NM_020451.3(SELENON):c.1623C>T (p.Asn541=)
|
rs199911454
|
0.00070
|
NM_024422.6(DSC2):c.304G>A (p.Glu102Lys)
|
rs144799937
|
0.00070
|
NM_024513.4(FYCO1):c.3903A>G (p.Thr1301=)
|
rs144525738
|
0.00070
|
NM_133642.5(LARGE1):c.1962G>A (p.Glu654=)
|
rs141089495
|
0.00070
|
NM_138694.4(PKHD1):c.7675G>C (p.Val2559Leu)
|
rs150046042
|
0.00070
|
NM_152564.5(VPS13B):c.6416A>G (p.Asn2139Ser)
|
rs142248228
|
0.00070
|
NM_000079.4(CHRNA1):c.224G>A (p.Arg75His)
|
rs147488907
|
0.00069
|
NM_000466.3(PEX1):c.3216T>C (p.Ser1072=)
|
rs140963147
|
0.00069
|
NM_001035.3(RYR2):c.8162T>C (p.Ile2721Thr)
|
rs201500134
|
0.00069
|
NM_001040436.3(YARS2):c.*360A>G
|
rs567955032
|
0.00069
|
NM_001082971.2(DDC):c.715A>T (p.Met239Leu)
|
rs11575376
|
0.00069
|
NM_001164508.2(NEB):c.20128G>A (p.Val6710Ile)
|
rs199890298
|
0.00069
|
NM_001164508.2(NEB):c.25038A>G (p.Gln8346=)
|
rs184319249
|
0.00069
|
NM_001277115.2(DNAH11):c.11277C>G (p.Ile3759Met)
|
rs202148932
|
0.00069
|
NM_001277115.2(DNAH11):c.2166A>G (p.Pro722=)
|
rs191266255
|
0.00069
|
NM_001277115.2(DNAH11):c.9939G>A (p.Val3313=)
|
rs200349268
|
0.00069
|
NM_001330078.2(NRXN1):c.3201C>T (p.Ser1067=)
|
rs75275592
|
0.00069
|
NM_001377.3(DYNC2H1):c.3170G>A (p.Arg1057His)
|
rs191381310
|
0.00069
|
NM_001384474.1(LOXHD1):c.5853G>A (p.Lys1951=)
|
rs201366522
|
0.00069
|
NM_002303.6(LEPR):c.3479T>C (p.Met1160Thr)
|
rs145685060
|
0.00069
|
NM_003659.4(AGPS):c.64G>A (p.Ala22Thr)
|
rs759572190
|
0.00069
|
NM_032043.3(BRIP1):c.3459T>C (p.Asp1153=)
|
rs4987050
|
0.00069
|
NM_152564.5(VPS13B):c.3811A>T (p.Thr1271Ser)
|
rs142674934
|
0.00069
|
NM_206937.2(LIG4):c.285G>A (p.Glu95=)
|
rs150146196
|
0.00069
|
NM_000335.5(SCN5A):c.659C>T (p.Thr220Ile)
|
rs45620037
|
0.00068
|
NM_000410.4(HFE):c.1006+14A>G
|
rs201262562
|
0.00068
|
NM_000492.4(CFTR):c.2735C>T (p.Ser912Leu)
|
rs121909034
|
0.00068
|
NM_000512.5(GALNS):c.858G>A (p.Thr286=)
|
rs140299014
|
0.00068
|
NM_000787.4(DBH):c.1215C>T (p.His405=)
|
rs144219953
|
0.00068
|
NM_002292.4(LAMB2):c.3582C>T (p.Phe1194=)
|
rs138540017
|
0.00068
|
NM_005787.6(ALG3):c.1084G>A (p.Val362Ile)
|
rs186946267
|
0.00068
|
NM_006031.6(PCNT):c.4140G>A (p.Ala1380=)
|
rs372175239
|
0.00068
|
NM_012073.5(CCT5):c.954C>T (p.Asn318=)
|
rs150870419
|
0.00068
|
NM_018006.5(TRMU):c.900G>T (p.Leu300=)
|
rs113846383
|
0.00068
|
NM_020376.4(PNPLA2):c.369C>T (p.Asp123=)
|
rs142174851
|
0.00068
|
NM_058246.4(DNAJB6):c.962C>T (p.Ser321Leu)
|
rs142974468
|
0.00068
|
NM_138413.4(HOGA1):c.708G>T (p.Val236=)
|
rs61731946
|
0.00068
|
NM_152564.5(VPS13B):c.1559A>G (p.His520Arg)
|
rs143205296
|
0.00068
|
NM_152564.5(VPS13B):c.7712C>T (p.Ser2571Phe)
|
rs145208175
|
0.00068
|
NM_152564.5(VPS13B):c.8570C>T (p.Pro2857Leu)
|
rs145890213
|
0.00068
|
NM_153006.3(NAGS):c.1302C>T (p.Pro434=)
|
rs150004962
|
0.00068
|
NM_153603.4(COG7):c.1455C>T (p.Phe485=)
|
rs116153163
|
0.00068
|
NM_153603.4(COG7):c.75C>G (p.Ser25=)
|
rs149481813
|
0.00068
|
NM_000037.4(ANK1):c.1153C>T (p.Arg385Cys)
|
rs142626656
|
0.00067
|
NM_000037.4(ANK1):c.1404+15C>T
|
rs201598401
|
0.00067
|
NM_000071.3(CBS):c.829-13G>A
|
rs201106576
|
0.00067
|
NM_000137.4(FAH):c.553+10C>T
|
rs201051426
|
0.00067
|
NM_000179.3(MSH6):c.1526T>C (p.Val509Ala)
|
rs63751005
|
0.00067
|
NM_000553.6(WRN):c.1835C>G (p.Ser612Cys)
|
rs11574250
|
0.00067
|
NM_000687.4(AHCY):c.1008C>T (p.Ile336=)
|
rs139344907
|
0.00067
|
NM_001242957.3(MAK):c.975G>A (p.Pro325=)
|
rs145014649
|
0.00067
|
NM_001378615.1(CC2D2A):c.2326G>A (p.Gly776Arg)
|
rs200764366
|
0.00067
|
NM_002857.4(PEX19):c.498T>G (p.Asp166Glu)
|
rs142780305
|
0.00067
|
NM_004100.5(EYA4):c.866C>T (p.Thr289Met)
|
rs41286200
|
0.00067
|
NM_015192.4(PLCB1):c.2841A>G (p.Glu947=)
|
rs35245209
|
0.00067
|
NM_024513.4(FYCO1):c.4151C>G (p.Ala1384Gly)
|
rs149783680
|
0.00067
|
NM_025243.4(SLC19A3):c.801A>G (p.Gln267=)
|
rs147205930
|
0.00067
|
NM_153717.3(EVC):c.2322G>C (p.Ala774=)
|
rs150373930
|
0.00067
|
NM_000046.5(ARSB):c.1337-3T>A
|
rs183651028
|
0.00066
|
NM_000154.2(GALK1):c.746C>T (p.Ala249Val)
|
rs149825190
|
0.00066
|
NM_000179.3(MSH6):c.1665A>G (p.Ala555=)
|
rs146785465
|
0.00066
|
NM_000237.3(LPL):c.786G>A (p.Gln262=)
|
rs140986245
|
0.00066
|
NM_000253.3(MTTP):c.-214G>A
|
rs569667113
|
0.00066
|
NM_000293.3(PHKB):c.1746A>G (p.Leu582=)
|
rs111970242
|
0.00066
|
NM_000350.3(ABCA4):c.1140T>A (p.Asn380Lys)
|
rs61748549
|
0.00066
|
NM_000426.4(LAMA2):c.6268+5G>C
|
rs182064878
|
0.00066
|
NM_001035.3(RYR2):c.11557+14C>T
|
rs374155447
|
0.00066
|
NM_001100.4(ACTA1):c.132C>T (p.Gly44=)
|
rs146956806
|
0.00066
|
NM_001134363.3(RBM20):c.680G>T (p.Gly227Val)
|
rs202238753
|
0.00066
|
NM_001457.4(FLNB):c.4233C>G (p.Phe1411Leu)
|
rs143831841
|
0.00066
|
NM_001698.3(AUH):c.598+10A>C
|
rs186203318
|
0.00066
|
NM_003119.4(SPG7):c.199C>T (p.Leu67=)
|
rs148315471
|
0.00066
|
NM_003384.3(VRK1):c.1020C>T (p.Asp340=)
|
rs147853760
|
0.00066
|
NM_005142.3(CBLIF):c.455C>T (p.Pro152Leu)
|
rs148081315
|
0.00066
|
NM_005591.4(MRE11):c.120C>T (p.Leu40=)
|
rs1805364
|
0.00066
|
NM_020451.3(SELENON):c.-35T>C
|
rs886038656
|
0.00066
|
NM_024513.4(FYCO1):c.1887C>T (p.Val629=)
|
rs140372149
|
0.00066
|
NM_024513.4(FYCO1):c.3024T>A (p.Ser1008Arg)
|
rs146592828
|
0.00066
|
NM_030787.4(CFHR5):c.1412G>A (p.Gly471Glu)
|
rs144438200
|
0.00066
|
NM_032409.3(PINK1):c.1075G>A (p.Ala359Thr)
|
rs76753586
|
0.00066
|
NM_174936.4(PCSK9):c.709C>T (p.Arg237Trp)
|
rs148195424
|
0.00066
|
NM_198904.4(GABRG2):c.-104T>G
|
rs886060380
|
0.00066
|
NM_000306.4(POU1F1):c.605-5T>G
|
rs201406891
|
0.00065
|
NM_000419.5(ITGA2B):c.2965G>A (p.Ala989Thr)
|
rs78165611
|
0.00065
|
NM_000426.4(LAMA2):c.2115T>G (p.Leu705=)
|
rs149753273
|
0.00065
|
NM_001368894.2(PAX6):c.*891G>A
|
rs530259403
|
0.00065
|
NM_001369369.1(FOXN1):c.1657A>G (p.Ser553Gly)
|
rs137872361
|
0.00065
|
NM_001875.5(CPS1):c.1714G>A (p.Asp572Asn)
|
rs142916171
|
0.00065
|
NM_004525.3(LRP2):c.4803C>T (p.Cys1601=)
|
rs141068435
|
0.00065
|
NM_015192.4(PLCB1):c.1881G>A (p.Gln627=)
|
rs45492700
|
0.00065
|
NM_030777.4(SLC2A10):c.765C>T (p.Ser255=)
|
rs142106322
|
0.00065
|
NM_000037.4(ANK1):c.2196+6G>A
|
rs200761553
|
0.00064
|
NM_000070.3(CAPN3):c.525C>T (p.Asp175=)
|
rs144383442
|
0.00064
|
NM_000254.3(MTR):c.2622G>A (p.Pro874=)
|
rs141919148
|
0.00064
|
NM_000295.5(SERPINA1):c.43C>T (p.Leu15=)
|
rs147283849
|
0.00064
|
NM_000302.4(PLOD1):c.804C>T (p.Thr268=)
|
rs140758113
|
0.00064
|
NM_000642.3(AGL):c.334A>G (p.Ile112Val)
|
rs147024351
|
0.00064
|
NM_001166114.2(PNPLA6):c.3495C>T (p.Ser1165=)
|
rs138837774
|
0.00064
|
NM_001330078.2(NRXN1):c.2533C>T (p.His845Tyr)
|
rs199784139
|
0.00064
|
NM_001372051.1(CASP8):c.892A>G (p.Ile298Val)
|
rs146286958
|
0.00064
|
NM_007294.4(BRCA1):c.3302G>A (p.Ser1101Asn)
|
rs41293447
|
0.00064
|
NM_007294.4(BRCA1):c.4812A>G (p.Gln1604=)
|
rs28897693
|
0.00064
|
NM_014000.3(VCL):c.1555A>C (p.Ile519Leu)
|
rs141033098
|
0.00064
|
NM_017636.4(TRPM4):c.2531G>A (p.Gly844Asp)
|
rs200038418
|
0.00064
|
NM_018714.3(COG1):c.1282-3T>C
|
rs188853520
|
0.00064
|
NM_025000.4(DCAF17):c.792T>C (p.Thr264=)
|
rs199742600
|
0.00064
|
NM_000251.3(MSH2):c.55T>C (p.Phe19Leu)
|
rs141711342
|
0.00063
|
NM_000256.3(MYBPC3):c.3682C>T (p.Arg1228Cys)
|
rs201312636
|
0.00063
|
NM_000263.4(NAGLU):c.1446G>A (p.Arg482=)
|
rs115994665
|
0.00063
|
NM_000426.4(LAMA2):c.6128A>G (p.Gln2043Arg)
|
rs144155507
|
0.00063
|
NM_001035.3(RYR2):c.3038G>A (p.Arg1013Gln)
|
rs149514924
|
0.00063
|
NM_003849.4(SUCLG1):c.202-4T>C
|
rs141973418
|
0.00063
|
NM_006892.4(DNMT3B):c.433-13C>T
|
rs182618840
|
0.00063
|
NM_014140.4(SMARCAL1):c.863-9C>G
|
rs188833040
|
0.00063
|
NM_014946.4(SPAST):c.134C>A (p.Pro45Gln)
|
rs121908517
|
0.00063
|
NM_015272.5(RPGRIP1L):c.3624C>T (p.Tyr1208=)
|
rs138724933
|
0.00063
|
NM_018100.4(EFHC1):c.64-5T>C
|
rs201860746
|
0.00063
|
NM_022436.3(ABCG5):c.1251G>A (p.Gln417=)
|
rs146801512
|
0.00063
|
NM_024570.4(RNASEH2B):c.455A>G (p.Asn152Ser)
|
rs146451037
|
0.00063
|
NM_058246.4(DNAJB6):c.*610C>T
|
rs886062134
|
0.00063
|
NM_058246.4(DNAJB6):c.*934C>T
|
rs886062136
|
0.00063
|
NM_000053.4(ATP7B):c.1543+13C>T
|
rs200171850
|
0.00062
|
NM_000130.5(F5):c.3211C>T (p.His1071Tyr)
|
rs146408488
|
0.00062
|
NM_000203.5(IDUA):c.11T>C (p.Leu4Pro)
|
rs180984980
|
0.00062
|
NM_000521.4(HEXB):c.1417+11C>T
|
rs146572414
|
0.00062
|
NM_000709.4(BCKDHA):c.1191C>T (p.Ala397=)
|
rs374403946
|
0.00062
|
NM_001199397.3(NEK1):c.686A>G (p.Tyr229Cys)
|
rs61737748
|
0.00062
|
NM_001365088.1(SLC12A6):c.1164C>T (p.Asp388=)
|
rs145615604
|
0.00062
|
NM_003659.4(AGPS):c.1380A>C (p.Pro460=)
|
rs148418568
|
0.00062
|
NM_003850.3(SUCLA2):c.236C>T (p.Ser79Leu)
|
rs142289138
|
0.00062
|
NM_004525.3(LRP2):c.11264-14C>G
|
rs377424162
|
0.00062
|
NM_005609.4(PYGM):c.1083C>T (p.Asp361=)
|
rs141959242
|
0.00062
|
NM_198525.3(KIF7):c.2237G>A (p.Arg746Gln)
|
rs151317163
|
0.00062
|
NM_000018.4(ACADVL):c.1284G>A (p.Lys428=)
|
rs35501596
|
0.00061
|
NM_000094.4(COL7A1):c.5217T>A (p.Pro1739=)
|
rs147611409
|
0.00061
|
NM_000130.5(F5):c.5589C>A (p.Pro1863=)
|
rs148772659
|
0.00061
|
NM_000238.4(KCNH2):c.526C>T (p.Arg176Trp)
|
rs36210422
|
0.00061
|
NM_000419.5(ITGA2B):c.799+15C>T
|
rs374469971
|
0.00061
|
NM_001035.3(RYR2):c.2935G>T (p.Ala979Ser)
|
rs202015519
|
0.00061
|
NM_001045.6(SLC6A4):c.12G>A (p.Thr4=)
|
rs114814153
|
0.00061
|
NM_001126108.2(SLC12A3):c.36C>T (p.Asp12=)
|
rs117987946
|
0.00061
|
NM_001164508.2(NEB):c.18431A>G (p.His6144Arg)
|
rs34504204
|
0.00061
|
NM_001166114.2(PNPLA6):c.1935C>G (p.Arg645=)
|
rs138023728
|
0.00061
|
NM_001267550.2(TTN):c.3100G>A (p.Val1034Met)
|
rs142951505
|
0.00061
|
NM_001330078.2(NRXN1):c.-995T>C
|
rs200865985
|
0.00061
|
NM_001378120.1(MBD5):c.-831+9dup
|
rs796052705
|
0.00061
|
NM_001943.5(DSG2):c.852T>C (p.Asn284=)
|
rs62095193
|
0.00061
|
NM_002292.4(LAMB2):c.816T>C (p.Tyr272=)
|
rs151251039
|
0.00061
|
NM_002474.3(MYH11):c.2049C>T (p.His683=)
|
rs150924100
|
0.00061
|
NM_002693.3(POLG):c.1386G>A (p.Ser462=)
|
rs62640034
|
0.00061
|
NM_003060.4(SLC22A5):c.1441G>A (p.Val481Ile)
|
rs11568513
|
0.00061
|
NM_003119.4(SPG7):c.2275G>A (p.Ala759Thr)
|
rs140769107
|
0.00061
|
NM_013435.3(RAX):c.24A>G (p.Pro8=)
|
rs771409497
|
0.00061
|
NM_014049.5(ACAD9):c.1022T>C (p.Leu341Ser)
|
rs141874052
|
0.00061
|
NM_014244.5(ADAMTS2):c.1164G>A (p.Pro388=)
|
rs141348218
|
0.00061
|
NM_014363.6(SACS):c.13344C>T (p.Arg4448=)
|
rs200157359
|
0.00061
|
NM_015627.3(LDLRAP1):c.284G>A (p.Arg95Gln)
|
rs139877665
|
0.00061
|
NM_018062.4(FANCL):c.203G>C (p.Arg68Pro)
|
rs143819820
|
0.00061
|
NM_020919.4(ALS2):c.2479A>T (p.Thr827Ser)
|
rs202219507
|
0.00061
|
NM_022124.6(CDH23):c.9198+13C>T
|
rs375384238
|
0.00061
|
NM_033305.3(VPS13A):c.2201G>A (p.Ser734Asn)
|
rs117320408
|
0.00061
|
NM_138694.4(PKHD1):c.1676G>A (p.Arg559Gln)
|
rs142896856
|
0.00061
|
NM_203486.3(DLL3):c.153C>T (p.Ser51=)
|
rs373980582
|
0.00061
|
NM_000426.4(LAMA2):c.6629T>C (p.Val2210Ala)
|
rs78880369
|
0.00060
|
NM_000817.3(GAD1):c.1002+4T>G
|
rs139531653
|
0.00060
|
NM_001005242.3(PKP2):c.1955A>G (p.Asn652Ser)
|
rs140852019
|
0.00060
|
NM_001040716.2(PC):c.496G>A (p.Val166Ile)
|
rs147697454
|
0.00060
|
NM_003659.4(AGPS):c.637+13C>T
|
rs182602770
|
0.00060
|
NM_014339.7(IL17RA):c.978G>A (p.Thr326=)
|
rs143239201
|
0.00060
|
NM_014855.3(AP5Z1):c.1584C>T (p.Gly528=)
|
rs377310579
|
0.00060
|
NM_014855.3(AP5Z1):c.849C>T (p.Ala283=)
|
rs572271008
|
0.00060
|
NM_019040.5(ELP4):c.*3528A>G
|
rs143185259
|
0.00060
|
NM_019844.4(SLCO1B3):c.1593A>G (p.Thr531=)
|
rs142694767
|
0.00060
|
NM_153603.4(COG7):c.2052G>A (p.Ser684=)
|
rs142744907
|
0.00060
|
NM_198578.4(LRRK2):c.5606T>C (p.Met1869Thr)
|
rs35602796
|
0.00060
|
NM_000053.4(ATP7B):c.1922T>C (p.Leu641Ser)
|
rs186924074
|
0.00059
|
NM_000222.3(KIT):c.1195G>A (p.Val399Ile)
|
rs143707288
|
0.00059
|
NM_000350.3(ABCA4):c.4352+13G>A
|
rs61754048
|
0.00059
|
NM_001365536.1(SCN9A):c.1464C>T (p.Leu488=)
|
rs200682458
|
0.00059
|
NM_003060.4(SLC22A5):c.414C>T (p.Asp138=)
|
rs150705788
|
0.00059
|
NM_005908.4(MANBA):c.531T>C (p.His177=)
|
rs149902075
|
0.00059
|
NM_021922.3(FANCE):c.1095A>C (p.Arg365Ser)
|
rs141268133
|
0.00059
|
NM_022124.6(CDH23):c.7823G>A (p.Arg2608His)
|
rs202052174
|
0.00059
|
NM_000018.4(ACADVL):c.1824C>T (p.Ile608=)
|
rs146115467
|
0.00058
|
NM_000081.4(LYST):c.2363+10dup
|
rs760632806
|
0.00058
|
NM_000091.5(COL4A3):c.4494C>G (p.Thr1498=)
|
rs200454769
|
0.00058
|
NM_000182.5(HADHA):c.1212G>C (p.Val404=)
|
rs116396996
|
0.00058
|
NM_000382.3(ALDH3A2):c.1398C>T (p.Leu466=)
|
rs150927045
|
0.00058
|
NM_000512.5(GALNS):c.1242+3A>G
|
rs377067312
|
0.00058
|
NM_000817.3(GAD1):c.399T>C (p.Asp133=)
|
rs112737041
|
0.00058
|
NM_001002755.4(NFU1):c.167-13T>G
|
rs181762580
|
0.00058
|
NM_001033855.3(DCLRE1C):c.1602C>T (p.Ser534=)
|
rs61745540
|
0.00058
|
NM_001035.3(RYR2):c.3054T>C (p.Tyr1018=)
|
rs113422365
|
0.00058
|
NM_001395413.1(POR):c.1806+12G>A
|
rs371432868
|
0.00058
|
NM_001558.4(IL10RA):c.320G>A (p.Arg107Gln)
|
rs145949718
|
0.00058
|
NM_001609.4(ACADSB):c.1228+8G>C
|
rs202191462
|
0.00058
|
NM_001875.5(CPS1):c.2025C>T (p.Ala675=)
|
rs143913650
|
0.00058
|
NM_002617.4(PEX10):c.896C>T (p.Ala299Val)
|
rs78620392
|
0.00058
|
NM_005609.4(PYGM):c.182G>A (p.Arg61His)
|
rs145514333
|
0.00058
|
NM_006493.4(CLN5):c.459G>A (p.Met153Ile)
|
rs144656959
|
0.00058
|
NM_012472.6(DNAAF11):c.1245A>G (p.Lys415=)
|
rs149631064
|
0.00058
|
NM_020166.5(MCCC1):c.254A>C (p.Asn85Thr)
|
rs148616219
|
0.00058
|
NM_052859.4(RFT1):c.47C>G (p.Ser16Cys)
|
rs148716754
|
0.00058
|
NM_080424.4(SP110):c.1591-9C>T
|
rs202101309
|
0.00058
|
NM_138694.4(PKHD1):c.2194G>T (p.Val732Phe)
|
rs201432731
|
0.00058
|
NM_000048.4(ASL):c.399G>A (p.Ser133=)
|
rs141584041
|
0.00057
|
NM_000155.4(GALT):c.687+9G>C
|
rs117998880
|
0.00057
|
NM_000302.4(PLOD1):c.1927G>A (p.Val643Ile)
|
rs149425237
|
0.00057
|
NM_000540.3(RYR1):c.2091C>T (p.Ala697=)
|
rs138704724
|
0.00057
|
NM_000787.4(DBH):c.165G>A (p.Pro55=)
|
rs139591190
|
0.00057
|
NM_001040716.2(PC):c.3107G>A (p.Arg1036His)
|
rs141237842
|
0.00057
|
NM_002474.3(MYH11):c.12G>A (p.Lys4=)
|
rs112650390
|
0.00057
|
NM_006005.3(WFS1):c.1153G>A (p.Glu385Lys)
|
rs71524353
|
0.00057
|
NM_015272.5(RPGRIP1L):c.*1584G>T
|
rs151226475
|
0.00057
|
NM_019892.6(INPP5E):c.469G>T (p.Gly157Trp)
|
rs78211353
|
0.00057
|
NM_020376.4(PNPLA2):c.399C>T (p.Asn133=)
|
rs143992505
|
0.00057
|
NM_025000.4(DCAF17):c.1030T>C (p.Trp344Arg)
|
rs78488864
|
0.00057
|
NM_052989.3(IFT122):c.3487T>A (p.Phe1163Ile)
|
rs200606803
|
0.00057
|
NM_138694.4(PKHD1):c.11800G>A (p.Val3934Ile)
|
rs149111536
|
0.00057
|
NM_138694.4(PKHD1):c.5768A>T (p.Gln1923Leu)
|
rs150838488
|
0.00057
|
NM_000017.4(ACADS):c.669G>A (p.Thr223=)
|
rs17848089
|
0.00056
|
NM_000071.3(CBS):c.215A>T (p.Lys72Ile)
|
rs192232907
|
0.00056
|
NM_000135.4(FANCA):c.3514-13G>A
|
rs200270574
|
0.00056
|
NM_000215.4(JAK3):c.2152G>C (p.Val718Leu)
|
rs146837396
|
0.00056
|
NM_000341.4(SLC3A1):c.1767C>T (p.Ile589=)
|
rs142141929
|
0.00056
|
NM_000360.4(TH):c.1398C>T (p.Ile466=)
|
rs118175546
|
0.00056
|
NM_000410.4(HFE):c.884T>C (p.Val295Ala)
|
rs143175221
|
0.00056
|
NM_000426.4(LAMA2):c.7300+10T>A
|
rs200469923
|
0.00056
|
NM_000492.4(CFTR):c.2245C>T (p.Leu749=)
|
rs151235408
|
0.00056
|
NM_000528.4(MAN2B1):c.2625C>T (p.Gly875=)
|
rs368834616
|
0.00056
|
NM_001160372.4(TRAPPC9):c.3175G>A (p.Ala1059Thr)
|
rs150200902
|
0.00056
|
NM_001365536.1(SCN9A):c.3002A>G (p.Tyr1001Cys)
|
rs199692186
|
0.00056
|
NM_001378615.1(CC2D2A):c.1041C>T (p.Asp347=)
|
rs371086728
|
0.00056
|
NM_001457.4(FLNB):c.4040A>G (p.Asn1347Ser)
|
rs146093652
|
0.00056
|
NM_002474.3(MYH11):c.429G>A (p.Lys143=)
|
rs200672270
|
0.00056
|
NM_002693.3(POLG):c.678G>C (p.Gln226His)
|
rs147282197
|
0.00056
|
NM_002693.3(POLG):c.798G>T (p.Val266=)
|
rs143631183
|
0.00056
|
NM_003907.3(EIF2B5):c.1956C>T (p.Phe652=)
|
rs149264256
|
0.00056
|
NM_005787.6(ALG3):c.222C>T (p.Tyr74=)
|
rs200875721
|
0.00056
|
NM_006348.5(COG5):c.1211A>G (p.Gln404Arg)
|
rs189560910
|
0.00056
|
NM_014363.6(SACS):c.7165G>A (p.Val2389Met)
|
rs142869943
|
0.00056
|
NM_016277.5(RAB23):c.536A>C (p.Glu179Ala)
|
rs150440590
|
0.00056
|
NM_018055.5(NODAL):c.972G>A (p.Leu324=)
|
rs143903715
|
0.00056
|
NM_020166.5(MCCC1):c.1942G>A (p.Gly648Ser)
|
rs149017703
|
0.00056
|
NM_020297.4(ABCC9):c.2238-1G>A
|
rs141281214
|
0.00056
|
NM_020919.4(ALS2):c.4416G>A (p.Thr1472=)
|
rs200202953
|
0.00056
|
NM_024422.6(DSC2):c.270G>A (p.Glu90=)
|
rs138643506
|
0.00056
|
NM_052813.5(CARD9):c.960G>A (p.Glu320=)
|
rs148158774
|
0.00056
|
NM_138694.4(PKHD1):c.5134G>A (p.Gly1712Arg)
|
rs141103838
|
0.00056
|
NM_138711.6(PPARG):c.348T>C (p.Ala116=)
|
rs147975759
|
0.00056
|
NM_000135.4(FANCA):c.2658G>C (p.Glu886Asp)
|
rs139002130
|
0.00055
|
NM_000466.3(PEX1):c.2792C>A (p.Ala931Asp)
|
rs144825021
|
0.00055
|
NM_000506.5(F2):c.1464G>A (p.Thr488=)
|
rs146742525
|
0.00055
|
NM_001130987.2(DYSF):c.3111C>T (p.Pro1037=)
|
rs143475751
|
0.00055
|
NM_002778.4(PSAP):c.41-13G>C
|
rs138010978
|
0.00055
|
NM_003982.4(SLC7A7):c.234C>T (p.Val78=)
|
rs139776370
|
0.00055
|
NM_004239.4(TRIP11):c.9C>T (p.Ser3=)
|
rs148398142
|
0.00055
|
NM_004304.5(ALK):c.469C>T (p.Pro157Ser)
|
rs74774946
|
0.00055
|
NM_004525.3(LRP2):c.10165A>G (p.Ile3389Val)
|
rs140272085
|
0.00055
|
NM_012213.3(MLYCD):c.1236C>T (p.Arg412=)
|
rs370278897
|
0.00055
|
NM_053025.4(MYLK):c.3898G>A (p.Ala1300Thr)
|
rs149530842
|
0.00055
|
NM_174936.4(PCSK9):c.847C>A (p.Leu283Met)
|
rs72646510
|
0.00055
|
NM_194318.4(B3GLCT):c.288C>T (p.Leu96=)
|
rs9542305
|
0.00055
|
NM_198578.4(LRRK2):c.6566A>G (p.Tyr2189Cys)
|
rs35658131
|
0.00055
|
NM_000079.4(CHRNA1):c.1293C>T (p.Leu431=)
|
rs146899588
|
0.00054
|
NM_000350.3(ABCA4):c.981C>T (p.Pro327=)
|
rs61753057
|
0.00054
|
NM_000360.4(TH):c.897C>T (p.Phe299=)
|
rs76719766
|
0.00054
|
NM_000532.5(PCCB):c.1421A>G (p.Lys474Arg)
|
rs145628302
|
0.00054
|
NM_001103.4(ACTN2):c.1452G>A (p.Gln484=)
|
rs200529923
|
0.00054
|
NM_001360.3(DHCR7):c.1368C>T (p.Gly456=)
|
rs144562471
|
0.00054
|
NM_001943.5(DSG2):c.437G>T (p.Arg146Leu)
|
rs113451409
|
0.00054
|
NM_003098.3(SNTA1):c.787G>T (p.Ala263Ser)
|
rs150576530
|
0.00054
|
NM_004320.6(ATP2A1):c.1560C>T (p.Gly520=)
|
rs138565447
|
0.00054
|
NM_006949.4(STXBP2):c.1569G>A (p.Lys523=)
|
rs148868283
|
0.00054
|
NM_014141.6(CNTNAP2):c.3522A>T (p.Gly1174=)
|
rs141078449
|
0.00054
|
NM_014244.5(ADAMTS2):c.1083T>C (p.Asp361=)
|
rs150079799
|
0.00054
|
NM_015627.3(LDLRAP1):c.396C>T (p.Ile132=)
|
rs369497122
|
0.00054
|
NM_000051.4(ATM):c.4424A>G (p.Tyr1475Cys)
|
rs34640941
|
0.00053
|
NM_000053.4(ATP7B):c.1993A>G (p.Met665Val)
|
rs146303208
|
0.00053
|
NM_000199.5(SGSH):c.1209C>T (p.Tyr403=)
|
rs115750405
|
0.00053
|
NM_000212.3(ITGB3):c.1299C>T (p.Pro433=)
|
rs200857868
|
0.00053
|
NM_000251.3(MSH2):c.1563T>C (p.Tyr521=)
|
rs63750330
|
0.00053
|
NM_000417.3(IL2RA):c.656-14T>A
|
rs74162097
|
0.00053
|
NM_000527.5(LDLR):c.58G>A (p.Gly20Arg)
|
rs147509697
|
0.00053
|
NM_000540.3(RYR1):c.12880A>G (p.Thr4294Ala)
|
rs1003914966
|
0.00053
|
NM_000642.3(AGL):c.1759C>T (p.His587Tyr)
|
rs139488862
|
0.00053
|
NM_000709.4(BCKDHA):c.289-5C>T
|
rs200646708
|
0.00053
|
NM_000784.4(CYP27A1):c.276C>T (p.Tyr92=)
|
rs141519183
|
0.00053
|
NM_001035.3(RYR2):c.1548T>C (p.Asp516=)
|
rs146129084
|
0.00053
|
NM_001089.3(ABCA3):c.753C>T (p.Ile251=)
|
rs146161376
|
0.00053
|
NM_001161352.2(KCNMA1):c.3147+15T>C
|
rs145048715
|
0.00053
|
NM_006892.4(DNMT3B):c.143-8C>T
|
rs200349528
|
0.00053
|
NM_014249.4(NR2E3):c.455C>T (p.Pro152Leu)
|
rs371853056
|
0.00053
|
NM_014874.4(MFN2):c.756C>T (p.Asn252=)
|
rs137960129
|
0.00053
|
NM_020366.4(RPGRIP1):c.3171C>T (p.His1057=)
|
rs201838837
|
0.00053
|
NM_020975.6(RET):c.*1430A>G
|
rs775114955
|
0.00053
|
NM_021044.4(DHH):c.1134T>A (p.Thr378=)
|
rs144444357
|
0.00053
|
NM_022124.6(CDH23):c.9942G>A (p.Thr3314=)
|
rs376804660
|
0.00053
|
NM_152564.5(VPS13B):c.983A>G (p.His328Arg)
|
rs181625846
|
0.00053
|
NM_000094.4(COL7A1):c.810G>A (p.Thr270=)
|
rs138770708
|
0.00052
|
NM_000359.3(TGM1):c.270T>A (p.Pro90=)
|
rs201400055
|
0.00052
|
NM_000709.4(BCKDHA):c.1081A>G (p.Ile361Val)
|
rs61736656
|
0.00052
|
NM_001164508.2(NEB):c.984C>T (p.Thr328=)
|
rs199969138
|
0.00052
|
NM_001875.5(CPS1):c.948-6C>T
|
rs112199960
|
0.00052
|
NM_002474.3(MYH11):c.1732A>G (p.Ile578Val)
|
rs111936548
|
0.00052
|
NM_003742.4(ABCB11):c.167C>T (p.Ser56Leu)
|
rs11568361
|
0.00052
|
NM_004076.5(CRYBB3):c.327+1G>T
|
rs143187630
|
0.00052
|
NM_014855.3(AP5Z1):c.970-5C>T
|
rs373671779
|
0.00052
|
NM_020376.4(PNPLA2):c.903C>T (p.Pro301=)
|
rs141190104
|
0.00052
|
NM_133459.4(CCBE1):c.265+8A>C
|
rs181010692
|
0.00052
|
NM_000018.4(ACADVL):c.1473A>G (p.Leu491=)
|
rs150518187
|
0.00051
|
NM_000551.4(VHL):c.463+8C>T
|
rs5030834
|
0.00051
|
NM_000642.3(AGL):c.1908A>G (p.Ser636=)
|
rs144723143
|
0.00051
|
NM_001035.3(RYR2):c.10941T>G (p.Pro3647=)
|
rs370332882
|
0.00051
|
NM_001330078.2(NRXN1):c.1365T>C (p.Leu455=)
|
rs201727684
|
0.00051
|
NM_001355436.2(SPTB):c.6174G>A (p.Thr2058=)
|
rs146561732
|
0.00051
|
NM_001377.3(DYNC2H1):c.33C>T (p.Leu11=)
|
rs373977008
|
0.00051
|
NM_001384474.1(LOXHD1):c.1716C>T (p.Asn572=)
|
rs147582935
|
0.00051
|
NM_002667.5(PLN):c.27C>T (p.Arg9=)
|
rs145623013
|
0.00051
|
NM_007194.4(CHEK2):c.538C>T (p.Arg180Cys)
|
rs77130927
|
0.00051
|
NM_014336.5(AIPL1):c.97-15C>T
|
rs190887679
|
0.00051
|
NM_020366.4(RPGRIP1):c.2550G>A (p.Gln850=)
|
rs200268506
|
0.00051
|
NM_022041.4(GAN):c.730A>G (p.Ile244Val)
|
rs200749953
|
0.00051
|
NM_024513.4(FYCO1):c.56-4A>G
|
rs150959263
|
0.00051
|
NM_032382.5(COG8):c.249C>G (p.Ala83=)
|
rs144030835
|
0.00051
|
NM_080911.3(UNG):c.194C>T (p.Pro65Leu)
|
rs199956941
|
0.00051
|
NM_182894.3(VSX2):c.939T>A (p.Ala313=)
|
rs372651860
|
0.00051
|
NM_201253.3(CRB1):c.1533C>T (p.Ala511=)
|
rs142224492
|
0.00051
|
NM_000199.5(SGSH):c.1296C>T (p.Tyr432=)
|
rs141153056
|
0.00050
|
NM_000211.5(ITGB2):c.853C>T (p.Arg285Cys)
|
rs137959302
|
0.00050
|
NM_000447.3(PSEN2):c.336C>T (p.Tyr112=)
|
rs200610057
|
0.00050
|
NM_000520.6(HEXA):c.-4G>A
|
rs766510036
|
0.00050
|
NM_000532.5(PCCB):c.603T>C (p.Ala201=)
|
rs141340198
|
0.00050
|
NM_000687.4(AHCY):c.390C>T (p.Asp130=)
|
rs143931269
|
0.00050
|
NM_000787.4(DBH):c.807C>T (p.Cys269=)
|
rs141816448
|
0.00050
|
NM_001008216.2(GALE):c.873+13_873+14insA
|
rs765063773
|
0.00050
|
NM_001130987.2(DYSF):c.2020A>G (p.Lys674Glu)
|
rs139754493
|
0.00050
|
NM_001369369.1(FOXN1):c.1184C>T (p.Pro395Leu)
|
rs199739943
|
0.00050
|
NM_006493.4(CLN5):c.5C>T (p.Ala2Val)
|
rs146993892
|
0.00050
|
NM_017534.6(MYH2):c.87T>C (p.Asn29=)
|
rs148217318
|
0.00050
|
NM_020975.6(RET):c.*29C>A
|
rs199639914
|
0.00050
|
NM_031433.4(MFRP):c.976-14A>C
|
rs200069261
|
0.00050
|
NM_138694.4(PKHD1):c.11507-11C>T
|
rs201478327
|
0.00050
|
NM_152564.5(VPS13B):c.1463C>T (p.Thr488Met)
|
rs150783688
|
0.00050
|
NM_000096.4(CP):c.2554+8C>T
|
rs749646388
|
0.00049
|
NM_000170.3(GLDC):c.2328C>T (p.Leu776=)
|
rs149600380
|
0.00049
|
NM_000186.4(CFH):c.285T>C (p.Thr95=)
|
rs148182625
|
0.00049
|
NM_000231.3(SGCG):c.832G>A (p.Gly278Ser)
|
rs147820869
|
0.00049
|
NM_000540.3(RYR1):c.9261C>T (p.Ile3087=)
|
rs56338790
|
0.00049
|
NM_001277115.2(DNAH11):c.7294C>T (p.Arg2432Trp)
|
rs188615176
|
0.00049
|
NM_001395413.1(POR):c.390C>T (p.Asn130=)
|
rs181837747
|
0.00049
|
NM_004132.5(HABP2):c.396C>T (p.Pro132=)
|
rs111397043
|
0.00049
|
NM_004239.4(TRIP11):c.4620T>C (p.Val1540=)
|
rs72705400
|
0.00049
|
NM_004273.5(CHST3):c.1135C>T (p.Leu379=)
|
rs564028722
|
0.00049
|
NM_017739.4(POMGNT1):c.421-7C>A
|
rs189274856
|
0.00049
|
NM_017882.3(CLN6):c.487-15C>T
|
rs200775021
|
0.00049
|
NM_032444.4(SLX4):c.2975G>A (p.Gly992Glu)
|
rs139287784
|
0.00049
|
NM_152564.5(VPS13B):c.1981G>A (p.Asp661Asn)
|
rs149334616
|
0.00049
|
NM_000130.5(F5):c.885C>T (p.Thr295=)
|
rs148752831
|
0.00048
|
NM_000211.5(ITGB2):c.1413-8G>A
|
rs375743879
|
0.00048
|
NM_000246.4(CIITA):c.2651G>A (p.Arg884His)
|
rs374443915
|
0.00048
|
NM_000263.4(NAGLU):c.2157G>A (p.Pro719=)
|
rs114687267
|
0.00048
|
NM_000335.5(SCN5A):c.3875T>C (p.Phe1292Ser)
|
rs41311127
|
0.00048
|
NM_000350.3(ABCA4):c.*299G>C
|
rs538804441
|
0.00048
|
NM_001035.3(RYR2):c.3380A>G (p.Glu1127Gly)
|
rs200525962
|
0.00048
|
NM_001114134.2(EPB42):c.1602G>A (p.Thr534=)
|
rs149742998
|
0.00048
|
NM_001126108.2(SLC12A3):c.1386C>T (p.Phe462=)
|
rs142199602
|
0.00048
|
NM_001130987.2(DYSF):c.4560C>T (p.Phe1520=)
|
rs544993852
|
0.00048
|
NM_001355436.2(SPTB):c.3479G>A (p.Arg1160His)
|
rs76283214
|
0.00048
|
NM_001355436.2(SPTB):c.4075C>T (p.Arg1359Trp)
|
rs189656371
|
0.00048
|
NM_001379610.1(SPINK1):c.33C>T (p.Ala11=)
|
rs147454311
|
0.00048
|
NM_004273.5(CHST3):c.348G>T (p.Glu116Asp)
|
rs144885813
|
0.00048
|
NM_004415.4(DSP):c.1574+14G>T
|
rs200443042
|
0.00048
|
NM_006005.3(WFS1):c.2424C>T (p.Ser808=)
|
rs56035336
|
0.00048
|
NM_014049.5(ACAD9):c.195T>C (p.Asn65=)
|
rs144978857
|
0.00048
|
NM_014141.6(CNTNAP2):c.2651G>A (p.Arg884Gln)
|
rs758630057
|
0.00048
|
NM_014714.4(IFT140):c.1593G>T (p.Gly531=)
|
rs143491016
|
0.00048
|
NM_017866.6(TMEM70):c.97C>A (p.Arg33=)
|
rs145329086
|
0.00048
|
NM_020376.4(PNPLA2):c.487-8C>T
|
rs201418203
|
0.00048
|
NM_025099.6(CTC1):c.2192G>A (p.Arg731Gln)
|
rs201891953
|
0.00048
|
NM_052859.4(RFT1):c.520T>C (p.Leu174=)
|
rs149266076
|
0.00048
|
NM_206933.4(USH2A):c.2052A>G (p.Gln684=)
|
rs111033248
|
0.00048
|
NM_000033.4(ABCD1):c.41C>G (p.Thr14Arg)
|
rs782161942
|
0.00047
|
NM_000057.4(BLM):c.3020-15C>T
|
rs200210516
|
0.00047
|
NM_000135.4(FANCA):c.3430C>T (p.Arg1144Trp)
|
rs143671872
|
0.00047
|
NM_000147.5(FUCA1):c.1119A>G (p.Lys373=)
|
rs370453371
|
0.00047
|
NM_000198.4(HSD3B2):c.960A>C (p.Thr320=)
|
rs34412477
|
0.00047
|
NM_000455.5(STK11):c.1185A>G (p.Thr395=)
|
rs370207155
|
0.00047
|
NM_001040436.3(YARS2):c.535A>C (p.Lys179Gln)
|
rs147630375
|
0.00047
|
NM_001080.3(ALDH5A1):c.1107C>T (p.Arg369=)
|
rs148188703
|
0.00047
|
NM_001164508.2(NEB):c.4198G>A (p.Ala1400Thr)
|
rs113174390
|
0.00047
|
NM_001375808.2(LPIN2):c.2443-9C>T
|
rs191749331
|
0.00047
|
NM_001457.4(FLNB):c.4978G>A (p.Ala1660Thr)
|
rs142114129
|
0.00047
|
NM_002185.5(IL7R):c.152C>T (p.Ser51Leu)
|
rs138482569
|
0.00047
|
NM_002485.5(NBN):c.628G>T (p.Val210Phe)
|
rs61754796
|
0.00047
|
NM_003664.5(AP3B1):c.822C>T (p.Tyr274=)
|
rs112652327
|
0.00047
|
NM_004525.3(LRP2):c.7866C>T (p.Asp2622=)
|
rs139514301
|
0.00047
|
NM_007254.4(PNKP):c.188C>T (p.Ala63Val)
|
rs3739173
|
0.00047
|
NM_014363.6(SACS):c.10443C>G (p.Leu3481=)
|
rs144087359
|
0.00047
|
NM_016042.4(EXOSC3):c.430T>C (p.Leu144=)
|
rs138085418
|
0.00047
|
NM_016239.4(MYO15A):c.3203G>T (p.Cys1068Phe)
|
rs189061214
|
0.00047
|
NM_020376.4(PNPLA2):c.492C>T (p.Tyr164=)
|
rs147314508
|
0.00047
|
NM_022367.4(SEMA4A):c.1215G>T (p.Thr405=)
|
rs151260330
|
0.00047
|
NM_032444.4(SLX4):c.3189C>T (p.Gly1063=)
|
rs200742809
|
0.00047
|
NM_080424.4(SP110):c.1200C>T (p.Asp400=)
|
rs115361843
|
0.00047
|
NM_000051.4(ATM):c.1986T>C (p.Phe662=)
|
rs1800055
|
0.00046
|
NM_000051.4(ATM):c.4709T>C (p.Val1570Ala)
|
rs140856217
|
0.00046
|
NM_000080.4(CHRNE):c.901G>A (p.Val301Met)
|
rs140023380
|
0.00046
|
NM_000136.3(FANCC):c.705C>T (p.Pro235=)
|
rs141828876
|
0.00046
|
NM_000162.5(GCK):c.*11C>T
|
rs200698755
|
0.00046
|
NM_000350.3(ABCA4):c.596C>T (p.Ala199Val)
|
rs145065936
|
0.00046
|
NM_000492.4(CFTR):c.274-6T>C
|
rs371315549
|
0.00046
|
NM_001035.3(RYR2):c.5619A>G (p.Ala1873=)
|
rs373282364
|
0.00046
|
NM_001130987.2(DYSF):c.5143G>T (p.Ala1715Ser)
|
rs141137410
|
0.00046
|
NM_001134363.3(RBM20):c.1659G>A (p.Ser553=)
|
rs375626512
|
0.00046
|
NM_001457.4(FLNB):c.4495G>A (p.Asp1499Asn)
|
rs150445941
|
0.00046
|
NM_002435.3(MPI):c.670+11T>C
|
rs144118442
|
0.00046
|
NM_002454.3(MTRR):c.540G>A (p.Val180=)
|
rs149037732
|
0.00046
|
NM_002474.3(MYH11):c.3816G>A (p.Glu1272=)
|
rs112990531
|
0.00046
|
NM_006019.4(TCIRG1):c.476G>A (p.Gly159Glu)
|
rs199632510
|
0.00046
|
NM_015192.4(PLCB1):c.627A>G (p.Pro209=)
|
rs151006778
|
0.00046
|
NM_015272.5(RPGRIP1L):c.3312C>T (p.Pro1104=)
|
rs568801926
|
0.00046
|
NM_020320.5(RARS2):c.78A>C (p.Thr26=)
|
rs138360045
|
0.00046
|
NM_020533.3(MCOLN1):c.413C>T (p.Ala138Val)
|
rs142259322
|
0.00046
|
NM_030962.4(SBF2):c.5058A>T (p.Arg1686Ser)
|
rs146230559
|
0.00046
|
NM_033305.3(VPS13A):c.7920A>G (p.Gln2640=)
|
rs200387635
|
0.00046
|
NM_000053.4(ATP7B):c.2544C>T (p.Gly848=)
|
rs200996053
|
0.00045
|
NM_000059.4(BRCA2):c.7976+12G>A
|
rs81002827
|
0.00045
|
NM_000098.3(CPT2):c.321A>G (p.Lys107=)
|
rs147846614
|
0.00045
|
NM_000154.2(GALK1):c.66G>A (p.Glu22=)
|
rs367558510
|
0.00045
|
NM_000222.3(KIT):c.200C>G (p.Thr67Ser)
|
rs144933028
|
0.00045
|
NM_000275.3(OCA2):c.1762C>T (p.Arg588Trp)
|
rs150711896
|
0.00045
|
NM_000492.4(CFTR):c.509G>A (p.Arg170His)
|
rs1800079
|
0.00045
|
NM_000528.4(MAN2B1):c.1437G>T (p.Ala479=)
|
rs139435774
|
0.00045
|
NM_000553.6(WRN):c.3738G>A (p.Leu1246=)
|
rs147117969
|
0.00045
|
NM_001035.3(RYR2):c.6337G>A (p.Val2113Met)
|
rs186906598
|
0.00045
|
NM_001042432.2(CLN3):c.831G>A (p.Val277=)
|
rs1142183
|
0.00045
|
NM_001048174.2(MUTYH):c.914-9C>T
|
rs3219488
|
0.00045
|
NM_001367624.2(ZNF469):c.3321G>A (p.Arg1107=)
|
rs763826959
|
0.00045
|
NM_001375808.2(LPIN2):c.2568C>T (p.Leu856=)
|
rs149862905
|
0.00045
|
NM_002485.5(NBN):c.-26G>A
|
rs201392451
|
0.00045
|
NM_003849.4(SUCLG1):c.384C>T (p.Ala128=)
|
rs139731592
|
0.00045
|
NM_004035.7(ACOX1):c.1344G>A (p.Val448=)
|
rs753969664
|
0.00045
|
NM_004100.5(EYA4):c.1035G>C (p.Arg345Ser)
|
rs140170914
|
0.00045
|
NM_004525.3(LRP2):c.8901C>G (p.Pro2967=)
|
rs145179638
|
0.00045
|
NM_005726.6(TSFM):c.539G>C (p.Gly180Ala)
|
rs138534976
|
0.00045
|
NM_006892.4(DNMT3B):c.2142G>A (p.Leu714=)
|
rs143847495
|
0.00045
|
NM_014908.4(DOLK):c.525T>G (p.Val175=)
|
rs200278288
|
0.00045
|
NM_015506.3(MMACHC):c.277-4C>G
|
rs199889403
|
0.00045
|
NM_016938.5(EFEMP2):c.99C>T (p.Pro33=)
|
rs140946753
|
0.00045
|
NM_020297.4(ABCC9):c.75T>C (p.Phe25=)
|
rs201972673
|
0.00045
|
NM_022369.4(STRA6):c.388G>A (p.Ala130Thr)
|
rs141477248
|
0.00045
|
NM_025137.4(SPG11):c.1605C>T (p.Ala535=)
|
rs117683234
|
0.00045
|
NM_025137.4(SPG11):c.6632G>A (p.Arg2211His)
|
rs144165094
|
0.00045
|
NM_053025.4(MYLK):c.999G>A (p.Pro333=)
|
rs13319347
|
0.00045
|
NM_199242.3(UNC13D):c.2368-5C>T
|
rs180768962
|
0.00045
|
NM_000051.4(ATM):c.3342G>A (p.Lys1114=)
|
rs138393322
|
0.00044
|
NM_000070.3(CAPN3):c.2235C>T (p.Tyr745=)
|
rs147774793
|
0.00044
|
NM_000199.5(SGSH):c.1317C>T (p.Tyr439=)
|
rs146522699
|
0.00044
|
NM_001083116.3(PRF1):c.368G>A (p.Arg123His)
|
rs139336186
|
0.00044
|
NM_001130987.2(DYSF):c.6174G>A (p.Arg2058=)
|
rs143762717
|
0.00044
|
NM_001161352.2(KCNMA1):c.89A>G (p.His30Arg)
|
rs200474297
|
0.00044
|
NM_001164508.2(NEB):c.23418G>T (p.Gln7806His)
|
rs765789028
|
0.00044
|
NM_001166114.2(PNPLA6):c.3914-8G>A
|
rs374861157
|
0.00044
|
NM_002863.5(PYGL):c.147C>T (p.Thr49=)
|
rs139338050
|
0.00044
|
NM_003560.4(PLA2G6):c.966C>T (p.His322=)
|
rs144033740
|
0.00044
|
NM_003896.4(ST3GAL5):c.389C>T (p.Ala130Val)
|
rs140019292
|
0.00044
|
NM_004006.3(DMD):c.5586+9G>A
|
rs200025478
|
0.00044
|
NM_004525.3(LRP2):c.2320+9G>A
|
rs368933798
|
0.00044
|
NM_006892.4(DNMT3B):c.2529C>T (p.Phe843=)
|
rs147402935
|
0.00044
|
NM_014244.5(ADAMTS2):c.2892C>T (p.Pro964=)
|
rs546361762
|
0.00044
|
NM_016630.7(SPG21):c.846G>A (p.Ala282=)
|
rs146986015
|
0.00044
|
NM_020451.3(SELENON):c.1500+7G>A
|
rs200724231
|
0.00044
|
NM_032520.5(GNPTG):c.702T>C (p.Pro234=)
|
rs532275192
|
0.00044
|
NM_032601.4(MCEE):c.66C>T (p.Pro22=)
|
rs151148238
|
0.00044
|
NM_033305.3(VPS13A):c.2667+11C>T
|
rs375898960
|
0.00044
|
NM_138413.4(HOGA1):c.237C>T (p.Gly79=)
|
rs148094180
|
0.00044
|
NM_138694.4(PKHD1):c.7067C>T (p.Pro2356Leu)
|
rs141360909
|
0.00044
|
NM_206937.2(LIG4):c.13C>A (p.Gln5Lys)
|
rs143590752
|
0.00044
|
NM_000030.3(AGXT):c.35A>G (p.Lys12Arg)
|
rs142969817
|
0.00043
|
NM_000057.4(BLM):c.3798T>G (p.Val1266=)
|
rs138831180
|
0.00043
|
NM_000251.3(MSH2):c.1680T>C (p.Asn560=)
|
rs200056411
|
0.00043
|
NM_000254.3(MTR):c.1080A>G (p.Leu360=)
|
rs141861479
|
0.00043
|
NM_000540.3(RYR1):c.6645C>T (p.Leu2215=)
|
rs146617004
|
0.00043
|
NM_000709.4(BCKDHA):c.288C>T (p.His96=)
|
rs148571328
|
0.00043
|
NM_001277115.2(DNAH11):c.569A>T (p.Tyr190Phe)
|
rs201793112
|
0.00043
|
NM_001358530.2(MOCS1):c.1015C>T (p.Arg339Trp)
|
rs148579886
|
0.00043
|
NM_001365536.1(SCN9A):c.3801T>C (p.Asp1267=)
|
rs202047865
|
0.00043
|
NM_001457.4(FLNB):c.1196A>G (p.Lys399Arg)
|
rs145673747
|
0.00043
|
NM_001457.4(FLNB):c.4058C>G (p.Thr1353Ser)
|
rs142718547
|
0.00043
|
NM_002241.5(KCNJ10):c.530A>G (p.Glu177Gly)
|
rs145947380
|
0.00043
|
NM_002303.6(LEPR):c.1246C>T (p.His416Tyr)
|
rs144710810
|
0.00043
|
NM_003640.5(ELP1):c.948G>A (p.Pro316=)
|
rs148917889
|
0.00043
|
NM_004525.3(LRP2):c.6553C>T (p.Leu2185Phe)
|
rs143884041
|
0.00043
|
NM_014363.6(SACS):c.2497G>A (p.Glu833Lys)
|
rs143433500
|
0.00043
|
NM_014714.4(IFT140):c.3542C>T (p.Ser1181Leu)
|
rs145814071
|
0.00043
|
NM_014714.4(IFT140):c.3684C>T (p.Ser1228=)
|
rs146464282
|
0.00043
|
NM_017636.4(TRPM4):c.1744G>A (p.Gly582Ser)
|
rs172149856
|
0.00043
|
NM_020247.5(COQ8A):c.258A>C (p.Ala86=)
|
rs137872711
|
0.00043
|
NM_024312.5(GNPTAB):c.3598G>A (p.Glu1200Lys)
|
rs137853825
|
0.00043
|
NM_024570.4(RNASEH2B):c.756A>G (p.Ser252=)
|
rs200721645
|
0.00043
|
NM_032520.5(GNPTG):c.741+6G>A
|
rs371060844
|
0.00043
|
NM_033337.3(CAV3):c.417C>T (p.Val139=)
|
rs147250678
|
0.00043
|
NM_052813.5(CARD9):c.801C>T (p.Ser267=)
|
rs143884319
|
0.00043
|
NM_000260.4(MYO7A):c.186G>A (p.Thr62=)
|
rs368267301
|
0.00042
|
NM_000360.4(TH):c.363G>A (p.Pro121=)
|
rs370429316
|
0.00042
|
NM_000426.4(LAMA2):c.4176+9C>T
|
rs117116822
|
0.00042
|
NM_001035.3(RYR2):c.463+14G>A
|
rs776302587
|
0.00042
|
NM_001122769.3(LCA5):c.1642C>T (p.Pro548Ser)
|
rs185347145
|
0.00042
|
NM_001164508.2(NEB):c.2107-8C>T
|
rs369441230
|
0.00042
|
NM_001173990.3(TMEM216):c.289T>A (p.Phe97Ile)
|
rs201614099
|
0.00042
|
NM_001182.5(ALDH7A1):c.615C>T (p.Asn205=)
|
rs369380330
|
0.00042
|
NM_001277115.2(DNAH11):c.8521A>G (p.Ser2841Gly)
|
rs199789835
|
0.00042
|
NM_001376.5(DYNC1H1):c.13181C>T (p.Thr4394Met)
|
rs149300055
|
0.00042
|
NM_001378615.1(CC2D2A):c.*1T>A
|
rs199945435
|
0.00042
|
NM_004415.4(DSP):c.3123C>T (p.Leu1041=)
|
rs149929637
|
0.00042
|
NM_005535.3(IL12RB1):c.1737G>A (p.Pro579=)
|
rs371461366
|
0.00042
|
NM_005609.4(PYGM):c.1692C>T (p.Phe564=)
|
rs116812032
|
0.00042
|
NM_017636.4(TRPM4):c.1294G>A (p.Ala432Thr)
|
rs201907325
|
0.00042
|
NM_020366.4(RPGRIP1):c.1078-9C>A
|
rs371312060
|
0.00042
|
NM_024312.5(GNPTAB):c.2625G>A (p.Val875=)
|
rs141529327
|
0.00042
|
NM_053025.4(MYLK):c.4195G>A (p.Glu1399Lys)
|
rs181663420
|
0.00042
|
NM_182760.4(SUMF1):c.519A>G (p.Ala173=)
|
rs146050361
|
0.00042
|
NM_000018.4(ACADVL):c.1077+15C>T
|
rs202237278
|
0.00041
|
NM_000037.4(ANK1):c.4156T>C (p.Tyr1386His)
|
rs201439151
|
0.00041
|
NM_000137.4(FAH):c.243G>A (p.Ala81=)
|
rs36122289
|
0.00041
|
NM_000232.5(SGCB):c.943G>A (p.Gly315Arg)
|
rs150395645
|
0.00041
|
NM_000249.4(MLH1):c.702G>A (p.Glu234=)
|
rs35908749
|
0.00041
|
NM_000263.4(NAGLU):c.1119G>T (p.Val373=)
|
rs371656965
|
0.00041
|
NM_000293.3(PHKB):c.305+11G>T
|
rs368293023
|
0.00041
|
NM_000350.3(ABCA4):c.2877C>T (p.Thr959=)
|
rs61754033
|
0.00041
|
NM_000396.4(CTSK):c.684C>T (p.Pro228=)
|
rs142097792
|
0.00041
|
NM_001005242.3(PKP2):c.184C>A (p.Gln62Lys)
|
rs199601548
|
0.00041
|
NM_001048174.2(MUTYH):c.1174C>A (p.Leu392Met)
|
rs144079536
|
0.00041
|
NM_001081.4(CUBN):c.9061G>A (p.Glu3021Lys)
|
rs41289299
|
0.00041
|
NM_001130987.2(DYSF):c.2477G>A (p.Arg826Gln)
|
rs35297901
|
0.00041
|
NM_001161352.2(KCNMA1):c.2547C>T (p.Asp849=)
|
rs147369374
|
0.00041
|
NM_001355436.2(SPTB):c.1303G>C (p.Glu435Gln)
|
rs149521594
|
0.00041
|
NM_001358530.2(MOCS1):c.394C>T (p.Arg132Trp)
|
rs377167949
|
0.00041
|
NM_001365536.1(SCN9A):c.4923T>C (p.Leu1641=)
|
rs199550149
|
0.00041
|
NM_002863.5(PYGL):c.1920G>A (p.Lys640=)
|
rs140296036
|
0.00041
|
NM_003331.5(TYK2):c.193+14G>A
|
rs199931972
|
0.00041
|
NM_003721.4(RFXANK):c.187+13C>T
|
rs201778172
|
0.00041
|
NM_004525.3(LRP2):c.12421G>A (p.Val4141Ile)
|
rs150382715
|
0.00041
|
NM_005159.4(ACTC1):c.*1781C>T
|
rs560065427
|
0.00041
|
NM_005546.4(ITK):c.1455C>T (p.Ala485=)
|
rs201568204
|
0.00041
|
NM_006892.4(DNMT3B):c.1035C>T (p.Ile345=)
|
rs150148922
|
0.00041
|
NM_006949.4(STXBP2):c.568C>T (p.Arg190Cys)
|
rs370053399
|
0.00041
|
NM_012434.5(SLC17A5):c.957C>A (p.Ile319=)
|
rs147732875
|
0.00041
|
NM_014049.5(ACAD9):c.152A>T (p.Lys51Ile)
|
rs149931573
|
0.00041
|
NM_014141.6(CNTNAP2):c.3927C>T (p.Ala1309=)
|
rs143856702
|
0.00041
|
NM_017636.4(TRPM4):c.308A>G (p.Tyr103Cys)
|
rs144781529
|
0.00041
|
NM_017882.3(CLN6):c.822G>A (p.Ala274=)
|
rs151186473
|
0.00041
|
NM_025243.4(SLC19A3):c.613A>G (p.Arg205Gly)
|
rs199558186
|
0.00041
|
NM_032043.3(BRIP1):c.2220G>T (p.Gln740His)
|
rs45589637
|
0.00041
|
NM_138694.4(PKHD1):c.6774A>C (p.Val2258=)
|
rs34796823
|
0.00041
|
NM_139343.3(BIN1):c.1629T>G (p.Ala543=)
|
rs143258043
|
0.00041
|
NM_175914.5(HNF4A):c.726G>A (p.Val242=)
|
rs145280017
|
0.00041
|
NM_000141.5(FGFR2):c.2190C>T (p.Asn730=)
|
rs55637244
|
0.00040
|
NM_000359.3(TGM1):c.2160C>T (p.Thr720=)
|
rs139387079
|
0.00040
|
NM_000507.4(FBP1):c.670G>A (p.Val224Ile)
|
rs140222720
|
0.00040
|
NM_000527.5(LDLR):c.2055G>A (p.Pro685=)
|
rs149126953
|
0.00040
|
NM_000787.4(DBH):c.849C>T (p.Cys283=)
|
rs78200745
|
0.00040
|
NM_000817.3(GAD1):c.682A>C (p.Ile228Leu)
|
rs45566933
|
0.00040
|
NM_001042432.2(CLN3):c.1230G>A (p.Ala410=)
|
rs201206239
|
0.00040
|
NM_001182.5(ALDH7A1):c.494G>C (p.Gly165Ala)
|
rs375491094
|
0.00040
|
NM_001875.5(CPS1):c.4089G>T (p.Leu1363=)
|
rs368890059
|
0.00040
|
NM_002529.4(NTRK1):c.1474G>A (p.Glu492Lys)
|
rs144901788
|
0.00040
|
NM_002617.4(PEX10):c.816G>T (p.Leu272=)
|
rs144440263
|
0.00040
|
NM_003560.4(PLA2G6):c.101C>T (p.Ser34Leu)
|
rs147948449
|
0.00040
|
NM_003742.4(ABCB11):c.2886A>G (p.Ala962=)
|
rs201087979
|
0.00040
|
NM_022367.4(SEMA4A):c.405T>C (p.Asn135=)
|
rs56271605
|
0.00040
|
NM_022464.5(SIL1):c.933G>A (p.Gly311=)
|
rs61744666
|
0.00040
|
NM_032634.4(PIGO):c.1277C>A (p.Ala426Asp)
|
rs147098410
|
0.00040
|
NM_052813.5(CARD9):c.12C>T (p.Tyr4=)
|
rs35051231
|
0.00040
|
NM_000017.4(ACADS):c.624+8C>T
|
rs371550264
|
0.00039
|
NM_000037.4(ANK1):c.2167C>A (p.His723Asn)
|
rs150899388
|
0.00039
|
NM_000070.3(CAPN3):c.1643G>A (p.Arg548His)
|
rs146309264
|
0.00039
|
NM_000108.5(DLD):c.55C>G (p.Arg19Gly)
|
rs144038427
|
0.00039
|
NM_000158.4(GBE1):c.1237-15C>T
|
rs376809475
|
0.00039
|
NM_000235.4(LIPA):c.891C>T (p.Ser297=)
|
rs145066614
|
0.00039
|
NM_000350.3(ABCA4):c.5312+11T>C
|
rs769863517
|
0.00039
|
NM_000426.4(LAMA2):c.2217G>T (p.Trp739Cys)
|
rs192317605
|
0.00039
|
NM_000439.5(PCSK1):c.1096-10C>T
|
rs373951075
|
0.00039
|
NM_000551.4(VHL):c.241C>T (p.Pro81Ser)
|
rs104893829
|
0.00039
|
NM_001005242.3(PKP2):c.1418A>G (p.Asn473Ser)
|
rs144536197
|
0.00039
|
NM_001164508.2(NEB):c.8801G>A (p.Arg2934His)
|
rs200307392
|
0.00039
|
NM_001166114.2(PNPLA6):c.3003C>T (p.Gly1001=)
|
rs145459571
|
0.00039
|
NM_001277115.2(DNAH11):c.9449G>A (p.Arg3150Gln)
|
rs181785201
|
0.00039
|
NM_001377.3(DYNC2H1):c.2244C>T (p.His748=)
|
rs373707570
|
0.00039
|
NM_001875.5(CPS1):c.2909A>G (p.Asn970Ser)
|
rs150485422
|
0.00039
|
NM_002474.3(MYH11):c.5529G>A (p.Ser1843=)
|
rs146024732
|
0.00039
|
NM_003465.3(CHIT1):c.605+10A>T
|
rs368307246
|
0.00039
|
NM_003982.4(SLC7A7):c.999G>A (p.Arg333=)
|
rs146720775
|
0.00039
|
NM_004525.3(LRP2):c.9363C>T (p.Gly3121=)
|
rs146783211
|
0.00039
|
NM_014141.6(CNTNAP2):c.1777+13T>G
|
rs188140291
|
0.00039
|
NM_017668.3(NDE1):c.948-6833A>G
|
rs111858392
|
0.00039
|
NM_020297.4(ABCC9):c.2050G>A (p.Gly684Ser)
|
rs148174226
|
0.00039
|
NM_138694.4(PKHD1):c.7215+13G>T
|
rs562612275
|
0.00039
|
NM_144773.4(PROKR2):c.889G>A (p.Val297Ile)
|
rs139399061
|
0.00039
|
NM_000051.4(ATM):c.6795C>T (p.Phe2265=)
|
rs3218699
|
0.00038
|
NM_000051.4(ATM):c.7390T>C (p.Cys2464Arg)
|
rs55801750
|
0.00038
|
NM_000053.4(ATP7B):c.2785A>G (p.Ile929Val)
|
rs534960245
|
0.00038
|
NM_000098.3(CPT2):c.1477G>A (p.Ala493Thr)
|
rs61731996
|
0.00038
|
NM_000130.5(F5):c.1391C>T (p.Thr464Ile)
|
rs141768227
|
0.00038
|
NM_000152.5(GAA):c.257C>G (p.Pro86Arg)
|
rs2229222
|
0.00038
|
NM_000254.3(MTR):c.1977A>G (p.Lys659=)
|
rs144767461
|
0.00038
|
NM_000350.3(ABCA4):c.1240-8G>C
|
rs185225547
|
0.00038
|
NM_000419.5(ITGA2B):c.207C>T (p.Gly69=)
|
rs375882355
|
0.00038
|
NM_000429.3(MAT1A):c.170-12G>A
|
rs200462189
|
0.00038
|
NM_000466.3(PEX1):c.1360-4G>T
|
rs199716270
|
0.00038
|
NM_000540.3(RYR1):c.9635A>G (p.Glu3212Gly)
|
rs199738299
|
0.00038
|
NM_000709.4(BCKDHA):c.63C>T (p.Ala21=)
|
rs140322984
|
0.00038
|
NM_001035.3(RYR2):c.12919C>T (p.Arg4307Cys)
|
rs200092869
|
0.00038
|
NM_001160372.4(TRAPPC9):c.2796C>T (p.Ala932=)
|
rs145607512
|
0.00038
|
NM_001199397.3(NEK1):c.3567C>T (p.Asn1189=)
|
rs200710438
|
0.00038
|
NM_001368894.2(PAX6):c.1179A>C (p.Thr393=)
|
rs143477661
|
0.00038
|
NM_001368894.2(PAX6):c.753G>A (p.Val251=)
|
rs145329506
|
0.00038
|
NM_001375808.2(LPIN2):c.446C>T (p.Pro149Leu)
|
rs147615538
|
0.00038
|
NM_001377.3(DYNC2H1):c.5511C>T (p.Asp1837=)
|
rs201953670
|
0.00038
|
NM_003560.4(PLA2G6):c.416G>A (p.Arg139His)
|
rs141825182
|
0.00038
|
NM_003640.5(ELP1):c.1911T>C (p.Val637=)
|
rs369645371
|
0.00038
|
NM_004132.5(HABP2):c.207C>T (p.Tyr69=)
|
rs139478887
|
0.00038
|
NM_006031.6(PCNT):c.7259C>T (p.Pro2420Leu)
|
rs144633170
|
0.00038
|
NM_006348.5(COG5):c.1750-14T>G
|
rs199592702
|
0.00038
|
NM_012203.2(GRHPR):c.666C>T (p.Thr222=)
|
rs146227450
|
0.00038
|
NM_014714.4(IFT140):c.3693G>A (p.Thr1231=)
|
rs144028766
|
0.00038
|
NM_014855.3(AP5Z1):c.1806-15C>T
|
rs201620155
|
0.00038
|
NM_015506.3(MMACHC):c.691T>C (p.Leu231=)
|
rs373198842
|
0.00038
|
NM_016042.4(EXOSC3):c.52C>T (p.Arg18Cys)
|
rs147135294
|
0.00038
|
NM_016042.4(EXOSC3):c.53G>C (p.Arg18Pro)
|
rs145677716
|
0.00038
|
NM_020919.4(ALS2):c.1641G>A (p.Arg547=)
|
rs34122078
|
0.00038
|
NM_022356.4(P3H1):c.2152C>G (p.Pro718Ala)
|
rs533729683
|
0.00038
|
NM_022367.4(SEMA4A):c.84G>A (p.Thr28=)
|
rs149711133
|
0.00038
|
NM_022436.3(ABCG5):c.1365C>T (p.Asp455=)
|
rs141016088
|
0.00038
|
NM_052989.3(IFT122):c.829C>T (p.Arg277Trp)
|
rs61744448
|
0.00038
|
NM_080911.3(UNG):c.183G>A (p.Pro61=)
|
rs147490205
|
0.00038
|
NM_138694.4(PKHD1):c.9402G>A (p.Lys3134=)
|
rs143737660
|
0.00038
|
NM_152383.5(DIS3L2):c.1205-13C>T
|
rs116327839
|
0.00038
|
NM_000027.4(AGA):c.885G>A (p.Lys295=)
|
rs34019119
|
0.00037
|
NM_000096.4(CP):c.938C>T (p.Thr313Ile)
|
rs144401501
|
0.00037
|
NM_000135.4(FANCA):c.1904C>T (p.Ala635Val)
|
rs142217479
|
0.00037
|
NM_000143.3(FH):c.*266A>G
|
rs113667027
|
0.00037
|
NM_000154.2(GALK1):c.747G>A (p.Ala249=)
|
rs140053358
|
0.00037
|
NM_000179.3(MSH6):c.1449G>T (p.Val483=)
|
rs35590297
|
0.00037
|
NM_000304.4(PMP22):c.-34-5C>T
|
rs375105159
|
0.00037
|
NM_000320.3(QDPR):c.450C>T (p.Tyr150=)
|
rs140949360
|
0.00037
|
NM_000350.3(ABCA4):c.1532G>A (p.Arg511His)
|
rs140482171
|
0.00037
|
NM_000350.3(ABCA4):c.1692A>G (p.Pro564=)
|
rs143263315
|
0.00037
|
NM_000426.4(LAMA2):c.2857-13C>T
|
rs201188972
|
0.00037
|
NM_000426.4(LAMA2):c.4944C>T (p.Asn1648=)
|
rs111632017
|
0.00037
|
NM_000536.4(RAG2):c.477C>T (p.Arg159=)
|
rs141659100
|
0.00037
|
NM_001042492.3(NF1):c.731-6A>C
|
rs369366499
|
0.00037
|
NM_001130987.2(DYSF):c.4542C>T (p.Ile1514=)
|
rs148055736
|
0.00037
|
NM_001369.3(DNAH5):c.3179A>T (p.Lys1060Met)
|
rs145672251
|
0.00037
|
NM_005535.3(IL12RB1):c.261C>T (p.Cys87=)
|
rs373545812
|
0.00037
|
NM_007194.4(CHEK2):c.*18C>T
|
rs17884403
|
0.00037
|
NM_014140.4(SMARCAL1):c.2641A>C (p.Lys881Gln)
|
rs190386780
|
0.00037
|
NM_014391.3(ANKRD1):c.313C>T (p.Pro105Ser)
|
rs148189486
|
0.00037
|
NM_018648.4(NOP10):c.55-9C>T
|
rs72720799
|
0.00037
|
NM_138694.4(PKHD1):c.5381-12T>C
|
rs143682303
|
0.00037
|
NM_213599.3(ANO5):c.720G>T (p.Leu240=)
|
rs147121216
|
0.00037
|
NM_000026.4(ADSL):c.363G>A (p.Leu121=)
|
rs138203195
|
0.00036
|
NM_000070.3(CAPN3):c.2409A>G (p.Gly803=)
|
rs143139259
|
0.00036
|
NM_000135.4(FANCA):c.3981C>T (p.His1327=)
|
rs141278771
|
0.00036
|
NM_000152.5(GAA):c.2652G>A (p.Thr884=)
|
rs143642048
|
0.00036
|
NM_000211.5(ITGB2):c.2145C>T (p.Ile715=)
|
rs144590448
|
0.00036
|
NM_000258.3(MYL3):c.307+15C>T
|
rs184025552
|
0.00036
|
NM_000277.3(PAH):c.609C>T (p.Cys203=)
|
rs1801147
|
0.00036
|
NM_000419.5(ITGA2B):c.487T>C (p.Leu163=)
|
rs141497408
|
0.00036
|
NM_000540.3(RYR1):c.11439+9G>A
|
rs369650355
|
0.00036
|
NM_000751.3(CHRND):c.198+14C>T
|
rs199538903
|
0.00036
|
NM_001065.4(TNFRSF1A):c.369C>T (p.Thr123=)
|
rs104895260
|
0.00036
|
NM_001130987.2(DYSF):c.4143C>T (p.Gly1381=)
|
rs145412880
|
0.00036
|
NM_001134363.3(RBM20):c.2887A>G (p.Lys963Glu)
|
rs371951525
|
0.00036
|
NM_001142800.2(EYS):c.3586T>C (p.Cys1196Arg)
|
rs374409854
|
0.00036
|
NM_001277115.2(DNAH11):c.6302A>G (p.Asn2101Ser)
|
rs201618995
|
0.00036
|
NM_001352514.2(HLCS):c.1811G>A (p.Arg604His)
|
rs74574054
|
0.00036
|
NM_001378615.1(CC2D2A):c.4296T>C (p.Cys1432=)
|
rs372671421
|
0.00036
|
NM_001887.4(CRYBB1):c.744A>G (p.Thr248=)
|
rs142495368
|
0.00036
|
NM_001909.5(CTSD):c.827+13T>C
|
rs369602025
|
0.00036
|
NM_001953.5(TYMP):c.1028T>G (p.Phe343Cys)
|
rs762630777
|
0.00036
|
NM_001953.5(TYMP):c.995C>T (p.Ala332Val)
|
rs778306525
|
0.00036
|
NM_002857.4(PEX19):c.402T>C (p.Ser134=)
|
rs139828188
|
0.00036
|
NM_003282.4(TNNI2):c.54G>C (p.Leu18=)
|
rs181679318
|
0.00036
|
NM_003640.5(ELP1):c.2436C>T (p.Asp812=)
|
rs113967847
|
0.00036
|
NM_003850.3(SUCLA2):c.1350G>A (p.Ala450=)
|
rs144969057
|
0.00036
|
NM_004937.3(CTNS):c.94G>A (p.Val32Ile)
|
rs146684402
|
0.00036
|
NM_005138.3(SCO2):c.237G>A (p.Arg79=)
|
rs150485659
|
0.00036
|
NM_006005.3(WFS1):c.-141A>G
|
rs373287522
|
0.00036
|
NM_006348.5(COG5):c.264A>G (p.Ala88=)
|
rs113660545
|
0.00036
|
NM_012472.6(DNAAF11):c.1391C>T (p.Pro464Leu)
|
rs139131485
|
0.00036
|
NM_014141.6(CNTNAP2):c.3247+15A>G
|
rs201602527
|
0.00036
|
NM_014236.4(GNPAT):c.1095T>C (p.Phe365=)
|
rs139272614
|
0.00036
|
NM_016123.4(IRAK4):c.720T>C (p.Cys240=)
|
rs144854858
|
0.00036
|
NM_020451.3(SELENON):c.1654G>A (p.Glu552Lys)
|
rs200128474
|
0.00036
|
NM_020919.4(ALS2):c.1627G>A (p.Asp543Asn)
|
rs201161419
|
0.00036
|
NM_023036.6(DNAI2):c.1574C>T (p.Ala525Val)
|
rs145602856
|
0.00036
|
NM_024996.7(GFM1):c.1032C>T (p.Asn344=)
|
rs373952002
|
0.00036
|
NM_025099.6(CTC1):c.1734C>T (p.Ala578=)
|
rs374985738
|
0.00036
|
NM_138694.4(PKHD1):c.9925A>G (p.Ile3309Val)
|
rs45627337
|
0.00036
|
NM_000037.4(ANK1):c.229-11A>G
|
rs372152994
|
0.00035
|
NM_000051.4(ATM):c.6919C>T (p.Leu2307Phe)
|
rs56009889
|
0.00035
|
NM_000059.4(BRCA2):c.9924C>T (p.Tyr3308=)
|
rs4987049
|
0.00035
|
NM_000130.5(F5):c.4835A>T (p.Asp1612Val)
|
rs141589936
|
0.00035
|
NM_000135.4(FANCA):c.3583C>T (p.Arg1195Trp)
|
rs143642304
|
0.00035
|
NM_000198.4(HSD3B2):c.222C>T (p.Asp74=)
|
rs150892928
|
0.00035
|
NM_000211.5(ITGB2):c.742-15A>G
|
rs199665785
|
0.00035
|
NM_000243.3(MEFV):c.1260+10C>T
|
rs104895137
|
0.00035
|
NM_000243.3(MEFV):c.372C>T (p.Pro124=)
|
rs104895078
|
0.00035
|
NM_000246.4(CIITA):c.456G>A (p.Pro152=)
|
rs151317882
|
0.00035
|
NM_000282.4(PCCA):c.2037C>T (p.Asp679=)
|
rs146870931
|
0.00035
|
NM_000303.3(PMM2):c.713G>A (p.Arg238His)
|
rs151319324
|
0.00035
|
NM_000325.6(PITX2):c.862C>T (p.Leu288=)
|
rs139401187
|
0.00035
|
NM_000340.2(SLC2A2):c.247G>A (p.Glu83Lys)
|
rs150851401
|
0.00035
|
NM_000455.5(STK11):c.1284G>A (p.Ser428=)
|
rs369097329
|
0.00035
|
NM_000521.4(HEXB):c.1248G>A (p.Ala416=)
|
rs137915238
|
0.00035
|
NM_001035.3(RYR2):c.*399A>G
|
rs184537159
|
0.00035
|
NM_001040108.2(MLH3):c.3440A>T (p.Asn1147Ile)
|
rs142124529
|
0.00035
|
NM_001083116.3(PRF1):c.1140G>A (p.Pro380=)
|
rs144926997
|
0.00035
|
NM_001164508.2(NEB):c.22370G>C (p.Ser7457Thr)
|
rs142454476
|
0.00035
|
NM_001242957.3(MAK):c.1405G>A (p.Glu469Lys)
|
rs149006687
|
0.00035
|
NM_001277115.2(DNAH11):c.6274-5T>C
|
rs74365849
|
0.00035
|
NM_001330078.2(NRXN1):c.4392T>C (p.His1464=)
|
rs112536447
|
0.00035
|
NM_001875.5(CPS1):c.1918G>T (p.Ala640Ser)
|
rs142693704
|
0.00035
|
NM_003560.4(PLA2G6):c.91G>A (p.Asp31Asn)
|
rs150024227
|
0.00035
|
NM_004560.4(ROR2):c.730C>T (p.Arg244Trp)
|
rs148340413
|
0.00035
|
NM_007374.3(SIX6):c.637C>T (p.Pro213Ser)
|
rs201560655
|
0.00035
|
NM_014290.3(TDRD7):c.2079+7C>T
|
rs201253435
|
0.00035
|
NM_014363.6(SACS):c.3144A>G (p.Val1048=)
|
rs3751369
|
0.00035
|
NM_052813.5(CARD9):c.406C>T (p.Leu136=)
|
rs143393026
|
0.00035
|
NM_138694.4(PKHD1):c.325G>A (p.Ala109Thr)
|
rs143979330
|
0.00035
|
NM_138694.4(PKHD1):c.3838C>T (p.Arg1280Cys)
|
rs144042993
|
0.00035
|
NM_178138.6(LHX3):c.964G>A (p.Ala322Thr)
|
rs201356862
|
0.00035
|
NM_198525.3(KIF7):c.3914G>A (p.Arg1305Gln)
|
rs138993311
|
0.00035
|
NM_000038.6(APC):c.607C>G (p.Gln203Glu)
|
rs141576417
|
0.00034
|
NM_000051.4(ATM):c.2932T>C (p.Ser978Pro)
|
rs139552233
|
0.00034
|
NM_000057.4(BLM):c.1467G>A (p.Arg489=)
|
rs56257041
|
0.00034
|
NM_000081.4(LYST):c.2946T>C (p.Tyr982=)
|
rs145892183
|
0.00034
|
NM_000138.5(FBN1):c.4270C>G (p.Pro1424Ala)
|
rs201273753
|
0.00034
|
NM_000222.3(KIT):c.878A>G (p.Asn293Ser)
|
rs137909416
|
0.00034
|
NM_000249.4(MLH1):c.1321G>A (p.Ala441Thr)
|
rs63750365
|
0.00034
|
NM_000256.3(MYBPC3):c.471C>T (p.Phe157=)
|
rs150291001
|
0.00034
|
NM_000260.4(MYO7A):c.687C>T (p.Gly229=)
|
rs371142158
|
0.00034
|
NM_000293.3(PHKB):c.3216G>A (p.Ala1072=)
|
rs137869198
|
0.00034
|
NM_000360.4(TH):c.1255G>A (p.Val419Met)
|
rs184106392
|
0.00034
|
NM_000426.4(LAMA2):c.4926A>G (p.Thr1642=)
|
rs62421010
|
0.00034
|
NM_000466.3(PEX1):c.2584-9del
|
rs886062504
|
0.00034
|
NM_000466.3(PEX1):c.939T>C (p.His313=)
|
rs199647157
|
0.00034
|
NM_000540.3(RYR1):c.10938-9C>T
|
rs201976186
|
0.00034
|
NM_000787.4(DBH):c.1025-6T>A
|
rs199926239
|
0.00034
|
NM_001130987.2(DYSF):c.4597T>C (p.Tyr1533His)
|
rs150139276
|
0.00034
|
NM_001277115.2(DNAH11):c.1749T>A (p.Val583=)
|
rs368294823
|
0.00034
|
NM_001355436.2(SPTB):c.26A>C (p.Asn9Thr)
|
rs138437526
|
0.00034
|
NM_001375808.2(LPIN2):c.2671G>A (p.Asp891Asn)
|
rs200648652
|
0.00034
|
NM_001377.3(DYNC2H1):c.8293T>G (p.Phe2765Val)
|
rs199503535
|
0.00034
|
NM_001395413.1(POR):c.1095G>A (p.Thr365=)
|
rs150414675
|
0.00034
|
NM_002474.3(MYH11):c.472G>A (p.Ala158Thr)
|
rs375998236
|
0.00034
|
NM_003282.4(TNNI2):c.387G>A (p.Ser129=)
|
rs139399106
|
0.00034
|
NM_004453.4(ETFDH):c.572G>A (p.Gly191Asp)
|
rs147219158
|
0.00034
|
NM_004525.3(LRP2):c.11322G>A (p.Ser3774=)
|
rs141727314
|
0.00034
|
NM_005546.4(ITK):c.138+13T>C
|
rs200603754
|
0.00034
|
NM_005677.4(COLQ):c.561C>T (p.Ser187=)
|
rs149370622
|
0.00034
|
NM_006446.5(SLCO1B1):c.1331+9A>G
|
rs76647672
|
0.00034
|
NM_006790.3(MYOT):c.120T>A (p.Ile40=)
|
rs139254363
|
0.00034
|
NM_007194.4(CHEK2):c.1312G>T (p.Asp438Tyr)
|
rs200050883
|
0.00034
|
NM_007294.4(BRCA1):c.1456T>C (p.Phe486Leu)
|
rs55906931
|
0.00034
|
NM_014714.4(IFT140):c.369+12C>T
|
rs192986766
|
0.00034
|
NM_017668.3(NDE1):c.948-9293G>A
|
rs374454501
|
0.00034
|
NM_017739.4(POMGNT1):c.486A>G (p.Leu162=)
|
rs138330966
|
0.00034
|
NM_032520.5(GNPTG):c.264C>T (p.Asn88=)
|
rs145313679
|
0.00034
|
NM_052859.4(RFT1):c.1356C>T (p.Arg452=)
|
rs113829901
|
0.00034
|
NM_052989.3(IFT122):c.1553G>A (p.Arg518His)
|
rs138223055
|
0.00034
|
NM_152564.5(VPS13B):c.10867+11A>G
|
rs376656751
|
0.00034
|
NM_153033.5(KCTD7):c.273C>T (p.Ser91=)
|
rs139585796
|
0.00034
|
NM_182943.3(PLOD2):c.2121+14T>C
|
rs376009508
|
0.00034
|
NM_199242.3(UNC13D):c.444G>A (p.Gly148=)
|
rs373551579
|
0.00034
|
NM_000251.3(MSH2):c.2154A>G (p.Gln718=)
|
rs63750810
|
0.00033
|
NM_000302.4(PLOD1):c.1428G>A (p.Lys476=)
|
rs139869965
|
0.00033
|
NM_000447.3(PSEN2):c.690C>G (p.Ala230=)
|
rs145010538
|
0.00033
|
NM_001127701.1(SERPINA1):c.1159G>A (p.Glu387Lys)
|
rs121912712
|
0.00033
|
NM_001130987.2(DYSF):c.5333C>A (p.Pro1778Gln)
|
rs145272777
|
0.00033
|
NM_002076.4(GNS):c.4C>T (p.Arg2Trp)
|
rs200441930
|
0.00033
|
NM_002474.3(MYH11):c.5275G>A (p.Val1759Ile)
|
rs138059405
|
0.00033
|
NM_002485.5(NBN):c.425A>G (p.Asn142Ser)
|
rs769414
|
0.00033
|
NM_003764.4(STX11):c.589G>A (p.Val197Met)
|
rs141499372
|
0.00033
|
NM_014290.3(TDRD7):c.444C>T (p.Asn148=)
|
rs144510531
|
0.00033
|
NM_015272.5(RPGRIP1L):c.2682A>G (p.Ser894=)
|
rs141608712
|
0.00033
|
NM_024513.4(FYCO1):c.4321C>A (p.Pro1441Thr)
|
rs185127002
|
0.00033
|
NM_032409.3(PINK1):c.1728A>G (p.Ser576=)
|
rs149994404
|
0.00033
|
NM_138694.4(PKHD1):c.5731C>T (p.Arg1911Cys)
|
rs149553146
|
0.00033
|
NM_139057.4(ADAMTS17):c.1353G>A (p.Thr451=)
|
rs143896591
|
0.00033
|
NM_153006.3(NAGS):c.246G>A (p.Pro82=)
|
rs747154237
|
0.00033
|
NM_000035.4(ALDOB):c.681C>T (p.Thr227=)
|
rs61757689
|
0.00032
|
NM_000051.4(ATM):c.2494C>T (p.Arg832Cys)
|
rs2229022
|
0.00032
|
NM_000057.4(BLM):c.3041A>G (p.His1014Arg)
|
rs145022945
|
0.00032
|
NM_000257.4(MYH7):c.4188G>A (p.Arg1396=)
|
rs200852418
|
0.00032
|
NM_000312.4(PROC):c.1299C>T (p.Gly433=)
|
rs151319700
|
0.00032
|
NM_000410.4(HFE):c.68G>A (p.Arg23His)
|
rs148161858
|
0.00032
|
NM_000481.4(AMT):c.101G>A (p.Arg34His)
|
rs138259479
|
0.00032
|
NM_001103.4(ACTN2):c.2601C>T (p.Pro867=)
|
rs147245615
|
0.00032
|
NM_001256545.2(MEGF10):c.1841-5T>C
|
rs372378202
|
0.00032
|
NM_001360.3(DHCR7):c.927C>A (p.Gly309=)
|
rs149974099
|
0.00032
|
NM_001457.4(FLNB):c.4061+4G>A
|
rs370061963
|
0.00032
|
NM_001457.4(FLNB):c.5134G>A (p.Val1712Met)
|
rs138141099
|
0.00032
|
NM_002693.3(POLG):c.2071-14T>G
|
rs150088708
|
0.00032
|
NM_002693.3(POLG):c.3098C>T (p.Ala1033Val)
|
rs551708243
|
0.00032
|
NM_005535.3(IL12RB1):c.930G>A (p.Ser310=)
|
rs144647048
|
0.00032
|
NM_005591.4(MRE11):c.1480G>A (p.Glu494Lys)
|
rs104895016
|
0.00032
|
NM_012179.4(FBXO7):c.277T>G (p.Ser93Ala)
|
rs143041875
|
0.00032
|
NM_014363.6(SACS):c.7725A>T (p.Ile2575=)
|
rs200735789
|
0.00032
|
NM_020297.4(ABCC9):c.1887G>T (p.Glu629Asp)
|
rs150036969
|
0.00032
|
NM_025137.4(SPG11):c.257+13G>A
|
rs201936649
|
0.00032
|
NM_025137.4(SPG11):c.257+15A>C
|
rs538988623
|
0.00032
|
NM_032634.4(PIGO):c.969T>G (p.Leu323=)
|
rs142658052
|
0.00032
|
NM_052989.3(IFT122):c.2643C>T (p.Ala881=)
|
rs150055466
|
0.00032
|
NM_053025.4(MYLK):c.256C>T (p.Arg86Trp)
|
rs368822172
|
0.00032
|
NM_138694.4(PKHD1):c.2825G>C (p.Gly942Ala)
|
rs142205860
|
0.00032
|
NM_152564.5(VPS13B):c.1041A>G (p.Ser347=)
|
rs149176010
|
0.00032
|
NM_206937.2(LIG4):c.1983T>C (p.Asp661=)
|
rs199638675
|
0.00032
|
NM_000057.4(BLM):c.3625T>A (p.Ser1209Thr)
|
rs1801256
|
0.00031
|
NM_000070.3(CAPN3):c.232C>A (p.Pro78Thr)
|
rs138867099
|
0.00031
|
NM_000081.4(LYST):c.2313G>A (p.Gln771=)
|
rs147220685
|
0.00031
|
NM_000186.4(CFH):c.2957-7A>G
|
rs190778135
|
0.00031
|
NM_000260.4(MYO7A):c.448C>A (p.Arg150=)
|
rs121965079
|
0.00031
|
NM_000350.3(ABCA4):c.2383-12G>A
|
rs368548294
|
0.00031
|
NM_000481.4(AMT):c.825T>A (p.Asn275Lys)
|
rs144241950
|
0.00031
|
NM_000506.5(F2):c.234G>A (p.Thr78=)
|
rs151121282
|
0.00031
|
NM_000521.4(HEXB):c.918G>C (p.Leu306=)
|
rs140607282
|
0.00031
|
NM_000540.3(RYR1):c.7876C>T (p.Leu2626=)
|
rs145446438
|
0.00031
|
NM_001042492.3(NF1):c.8041A>G (p.Ile2681Val)
|
rs146315101
|
0.00031
|
NM_001048174.2(MUTYH):c.1392+2C>T
|
rs140288388
|
0.00031
|
NM_001134363.3(RBM20):c.3648C>T (p.Ser1216=)
|
rs554167951
|
0.00031
|
NM_001164508.2(NEB):c.6817A>G (p.Lys2273Glu)
|
rs199700878
|
0.00031
|
NM_001277115.2(DNAH11):c.5132A>G (p.Gln1711Arg)
|
rs189432084
|
0.00031
|
NM_001360.3(DHCR7):c.126C>T (p.Ser42=)
|
rs150928869
|
0.00031
|
NM_001457.4(FLNB):c.7041C>A (p.Phe2347Leu)
|
rs139325959
|
0.00031
|
NM_002185.5(IL7R):c.1316C>G (p.Thr439Ser)
|
rs148931962
|
0.00031
|
NM_002292.4(LAMB2):c.2922G>C (p.Gly974=)
|
rs145465720
|
0.00031
|
NM_002474.3(MYH11):c.2893G>T (p.Ala965Ser)
|
rs113696032
|
0.00031
|
NM_002474.3(MYH11):c.5528C>T (p.Ser1843Leu)
|
rs148621523
|
0.00031
|
NM_002529.4(NTRK1):c.482G>A (p.Arg161His)
|
rs150271893
|
0.00031
|
NM_003331.5(TYK2):c.2985C>T (p.Ile995=)
|
rs147442318
|
0.00031
|
NM_004525.3(LRP2):c.1731G>A (p.Arg577=)
|
rs142698246
|
0.00031
|
NM_014363.6(SACS):c.10008A>G (p.Lys3336=)
|
rs148971954
|
0.00031
|
NM_014363.6(SACS):c.2580A>G (p.Gln860=)
|
rs41283958
|
0.00031
|
NM_014714.4(IFT140):c.2586C>T (p.Ala862=)
|
rs148557575
|
0.00031
|
NM_017636.4(TRPM4):c.1242T>C (p.Phe414=)
|
rs200633475
|
0.00031
|
NM_022124.6(CDH23):c.*141G>A
|
rs535544696
|
0.00031
|
NM_022356.4(P3H1):c.1720+4G>A
|
rs371232413
|
0.00031
|
NM_024079.5(ALG8):c.1506C>T (p.Gly502=)
|
rs148820351
|
0.00031
|
NM_025099.6(CTC1):c.1207-4C>T
|
rs369904656
|
0.00031
|
NM_139343.3(BIN1):c.906C>T (p.Gly302=)
|
rs371258305
|
0.00031
|
NM_152419.3(HGSNAT):c.108G>A (p.Ala36=)
|
rs886062952
|
0.00031
|
NM_152564.5(VPS13B):c.885C>T (p.Gly295=)
|
rs143112539
|
0.00031
|
NM_182760.4(SUMF1):c.891C>T (p.Asn297=)
|
rs143754187
|
0.00031
|
NM_183235.3(RAB27A):c.418C>G (p.Gln140Glu)
|
rs150463407
|
0.00031
|
NM_198525.3(KIF7):c.2049G>A (p.Gly683=)
|
rs141856439
|
0.00031
|
NM_000051.4(ATM):c.7044G>A (p.Thr2348=)
|
rs140104789
|
0.00030
|
NM_000212.3(ITGB3):c.285C>T (p.Leu95=)
|
rs151121691
|
0.00030
|
NM_000271.5(NPC1):c.3717C>T (p.His1239=)
|
rs34624018
|
0.00030
|
NM_000382.3(ALDH3A2):c.417G>A (p.Leu139=)
|
rs200806435
|
0.00030
|
NM_000512.5(GALNS):c.121-4G>A
|
rs200008960
|
0.00030
|
NM_000687.4(AHCY):c.882C>G (p.Ala294=)
|
rs376464023
|
0.00030
|
NM_001161352.2(KCNMA1):c.3150G>A (p.Thr1050=)
|
rs75116272
|
0.00030
|
NM_001355436.2(SPTB):c.1048G>A (p.Val350Met)
|
rs141973081
|
0.00030
|
NM_001376.5(DYNC1H1):c.5971G>A (p.Asp1991Asn)
|
rs151001016
|
0.00030
|
NM_001457.4(FLNB):c.6928A>G (p.Ile2310Val)
|
rs143005300
|
0.00030
|
NM_001953.5(TYMP):c.1443G>A (p.Gln481=)
|
rs377497287
|
0.00030
|
NM_003331.5(TYK2):c.648G>A (p.Pro216=)
|
rs142642403
|
0.00030
|
NM_004525.3(LRP2):c.3551-9C>A
|
rs373882047
|
0.00030
|
NM_005220.3(DLX3):c.252G>A (p.Ser84=)
|
rs139226711
|
0.00030
|
NM_006005.3(WFS1):c.2436C>T (p.Ser812=)
|
rs142630687
|
0.00030
|
NM_006206.6(PDGFRA):c.276G>A (p.Ala92=)
|
rs140725151
|
0.00030
|
NM_014244.5(ADAMTS2):c.2439C>T (p.His813=)
|
rs141661592
|
0.00030
|
NM_014363.6(SACS):c.3042A>G (p.Leu1014=)
|
rs141982796
|
0.00030
|
NM_015192.4(PLCB1):c.2570C>T (p.Thr857Met)
|
rs184436336
|
0.00030
|
NM_138413.4(HOGA1):c.185A>T (p.His62Leu)
|
rs150812556
|
0.00030
|
NM_144599.5(NIPA1):c.21A>G (p.Ala7=)
|
rs749414711
|
0.00030
|
NM_152564.5(VPS13B):c.3075G>A (p.Thr1025=)
|
rs141637316
|
0.00030
|
NM_152564.5(VPS13B):c.4452T>C (p.Asn1484=)
|
rs148033080
|
0.00030
|
NM_000018.4(ACADVL):c.1678+15C>T
|
rs371402802
|
0.00029
|
NM_000037.4(ANK1):c.3984+9A>G
|
rs369984591
|
0.00029
|
NM_000070.3(CAPN3):c.1842G>C (p.Glu614Asp)
|
rs201607149
|
0.00029
|
NM_000071.3(CBS):c.1479G>A (p.Thr493=)
|
rs143225442
|
0.00029
|
NM_000081.4(LYST):c.2963G>A (p.Arg988Gln)
|
rs150953050
|
0.00029
|
NM_000081.4(LYST):c.3394-14T>C
|
rs372892911
|
0.00029
|
NM_000108.5(DLD):c.763A>C (p.Met255Leu)
|
rs533405046
|
0.00029
|
NM_000130.5(F5):c.1158A>G (p.Gln386=)
|
rs148623862
|
0.00029
|
NM_000130.5(F5):c.5490G>A (p.Leu1830=)
|
rs149092241
|
0.00029
|
NM_000135.4(FANCA):c.1340C>T (p.Ser447Leu)
|
rs149551759
|
0.00029
|
NM_000135.4(FANCA):c.2637C>T (p.Ala879=)
|
rs149435806
|
0.00029
|
NM_000135.4(FANCA):c.577C>G (p.Leu193Val)
|
rs141861208
|
0.00029
|
NM_000138.5(FBN1):c.2175T>C (p.Asn725=)
|
rs140606
|
0.00029
|
NM_000141.5(FGFR2):c.*674G>T
|
rs566155088
|
0.00029
|
NM_000262.3(NAGA):c.993G>T (p.Leu331=)
|
rs147853281
|
0.00029
|
NM_000293.3(PHKB):c.1364-10T>C
|
rs199899291
|
0.00029
|
NM_000306.4(POU1F1):c.337C>T (p.Arg113Trp)
|
rs138356138
|
0.00029
|
NM_000325.6(PITX2):c.639A>T (p.Ser213=)
|
rs141176394
|
0.00029
|
NM_000350.3(ABCA4):c.2486C>T (p.Thr829Met)
|
rs139250920
|
0.00029
|
NM_000465.4(BARD1):c.346C>T (p.His116Tyr)
|
rs144856889
|
0.00029
|
NM_000466.3(PEX1):c.1360-7C>T
|
rs371890000
|
0.00029
|
NM_000488.4(SERPINC1):c.29C>A (p.Thr10Asn)
|
rs61736655
|
0.00029
|
NM_000492.4(CFTR):c.3558A>G (p.Gln1186=)
|
rs1800121
|
0.00029
|
NM_000507.4(FBP1):c.102G>C (p.Leu34=)
|
rs143832764
|
0.00029
|
NM_000507.4(FBP1):c.495C>T (p.Tyr165=)
|
rs139264724
|
0.00029
|
NM_000515.5(GH1):c.597C>G (p.Val199=)
|
rs142704768
|
0.00029
|
NM_000518.5(HBB):c.324C>T (p.Gly108=)
|
rs193922562
|
0.00029
|
NM_000527.5(LDLR):c.507C>T (p.Asn169=)
|
rs146354103
|
0.00029
|
NM_000528.4(MAN2B1):c.2501C>T (p.Ser834Leu)
|
rs199967717
|
0.00029
|
NM_000642.3(AGL):c.4331A>G (p.Asn1444Ser)
|
rs143815159
|
0.00029
|
NM_000642.3(AGL):c.82+4A>C
|
rs765098686
|
0.00029
|
NM_000687.4(AHCY):c.855-8C>T
|
rs370059571
|
0.00029
|
NM_000709.4(BCKDHA):c.294G>A (p.Pro98=)
|
rs142967869
|
0.00029
|
NM_001002294.3(FMO3):c.341A>G (p.Asn114Ser)
|
rs186763441
|
0.00029
|
NM_001008216.2(GALE):c.369G>A (p.Gly123=)
|
rs138148991
|
0.00029
|
NM_001083116.3(PRF1):c.1000G>A (p.Gly334Ser)
|
rs145463632
|
0.00029
|
NM_001114753.3(ENG):c.1258A>G (p.Met420Val)
|
rs143724056
|
0.00029
|
NM_001126108.2(SLC12A3):c.1926-10C>G
|
rs375828467
|
0.00029
|
NM_001142800.2(EYS):c.5577C>T (p.Pro1859=)
|
rs747911999
|
0.00029
|
NM_001160372.4(TRAPPC9):c.1809G>A (p.Leu603=)
|
rs146235874
|
0.00029
|
NM_001161748.2(LIM2):c.175+50G>A
|
rs147625714
|
0.00029
|
NM_001164508.2(NEB):c.20098C>A (p.Leu6700Ile)
|
rs202139330
|
0.00029
|
NM_001164508.2(NEB):c.22647G>A (p.Glu7549=)
|
rs201688876
|
0.00029
|
NM_001164508.2(NEB):c.23013C>T (p.Ser7671=)
|
rs370873040
|
0.00029
|
NM_001164508.2(NEB):c.5696C>T (p.Thr1899Ile)
|
rs202234374
|
0.00029
|
NM_001277115.2(DNAH11):c.13305C>T (p.Gly4435=)
|
rs150682314
|
0.00029
|
NM_001277115.2(DNAH11):c.794G>A (p.Arg265His)
|
rs192989152
|
0.00029
|
NM_001384474.1(LOXHD1):c.5400-3C>T
|
rs528236655
|
0.00029
|
NM_001698.3(AUH):c.936T>C (p.Tyr312=)
|
rs139628387
|
0.00029
|
NM_002103.5(GYS1):c.1338C>T (p.His446=)
|
rs139974904
|
0.00029
|
NM_002529.4(NTRK1):c.1068C>T (p.Asn356=)
|
rs145823996
|
0.00029
|
NM_002617.4(PEX10):c.316C>T (p.Leu106=)
|
rs140340426
|
0.00029
|
NM_002863.5(PYGL):c.1757C>T (p.Thr586Met)
|
rs144989341
|
0.00029
|
NM_003060.4(SLC22A5):c.287G>C (p.Gly96Ala)
|
rs377767450
|
0.00029
|
NM_003859.3(DPM1):c.22C>T (p.Arg8Cys)
|
rs201392536
|
0.00029
|
NM_005535.3(IL12RB1):c.390C>T (p.Thr130=)
|
rs201723337
|
0.00029
|
NM_006005.3(WFS1):c.1024G>A (p.Ala342Thr)
|
rs148028521
|
0.00029
|
NM_006005.3(WFS1):c.1265C>T (p.Ala422Val)
|
rs150368988
|
0.00029
|
NM_006031.6(PCNT):c.4222C>T (p.Arg1408Trp)
|
rs202161810
|
0.00029
|
NM_006348.5(COG5):c.117C>T (p.Asn39=)
|
rs138518242
|
0.00029
|
NM_014140.4(SMARCAL1):c.1785C>T (p.Ile595=)
|
rs145825654
|
0.00029
|
NM_014252.4(SLC25A15):c.345C>T (p.Phe115=)
|
rs35434090
|
0.00029
|
NM_014290.3(TDRD7):c.622A>G (p.Thr208Ala)
|
rs139706467
|
0.00029
|
NM_016729.3(FOLR1):c.157T>C (p.Leu53=)
|
rs143413500
|
0.00029
|
NM_019892.6(INPP5E):c.1191C>T (p.Ile397=)
|
rs558778286
|
0.00029
|
NM_020297.4(ABCC9):c.1557G>A (p.Glu519=)
|
rs143346402
|
0.00029
|
NM_020297.4(ABCC9):c.2262T>C (p.Tyr754=)
|
rs145561881
|
0.00029
|
NM_020366.4(RPGRIP1):c.1920C>T (p.Ala640=)
|
rs368434311
|
0.00029
|
NM_022124.6(CDH23):c.*104G>C
|
rs377312107
|
0.00029
|
NM_022124.6(CDH23):c.1814C>T (p.Ala605Val)
|
rs201475055
|
0.00029
|
NM_024422.6(DSC2):c.1559T>C (p.Ile520Thr)
|
rs561310777
|
0.00029
|
NM_080424.4(SP110):c.459G>A (p.Ala153=)
|
rs201957445
|
0.00029
|
NM_152564.5(VPS13B):c.3436C>G (p.Leu1146Val)
|
rs202015701
|
0.00029
|
NM_152564.5(VPS13B):c.4989C>A (p.Pro1663=)
|
rs142380266
|
0.00029
|
NM_152594.3(SPRED1):c.944C>T (p.Pro315Leu)
|
rs115440602
|
0.00029
|
NM_152783.5(D2HGDH):c.893C>T (p.Thr298Ile)
|
rs141475702
|
0.00029
|
NM_174936.4(PCSK9):c.399+4A>G
|
rs376653409
|
0.00029
|
NM_182760.4(SUMF1):c.602+12C>T
|
rs200971871
|
0.00029
|
NM_199242.3(UNC13D):c.2830+7G>A
|
rs201023196
|
0.00029
|
NM_199242.3(UNC13D):c.972C>T (p.Asp324=)
|
rs368990813
|
0.00029
|
NM_000098.3(CPT2):c.500G>A (p.Arg167Gln)
|
rs144760921
|
0.00028
|
NM_000170.3(GLDC):c.2874C>T (p.Ser958=)
|
rs146339375
|
0.00028
|
NM_000350.3(ABCA4):c.2744-5C>T
|
rs76305791
|
0.00028
|
NM_000360.4(TH):c.67G>A (p.Ala23Thr)
|
rs201081519
|
0.00028
|
NM_000466.3(PEX1):c.3031G>A (p.Val1011Met)
|
rs141650598
|
0.00028
|
NM_000492.4(CFTR):c.1584+12T>C
|
rs193922502
|
0.00028
|
NM_001035.3(RYR2):c.10231-5C>T
|
rs186326951
|
0.00028
|
NM_001035.3(RYR2):c.13291G>A (p.Glu4431Lys)
|
rs571985775
|
0.00028
|
NM_001130987.2(DYSF):c.1311C>T (p.Ile437=)
|
rs148697028
|
0.00028
|
NM_001134363.3(RBM20):c.1378T>C (p.Leu460=)
|
rs374014662
|
0.00028
|
NM_001134363.3(RBM20):c.3115C>T (p.Pro1039Ser)
|
rs727503392
|
0.00028
|
NM_001164508.2(NEB):c.20853C>T (p.Ile6951=)
|
rs199730497
|
0.00028
|
NM_001277115.2(DNAH11):c.8973G>A (p.Thr2991=)
|
rs200978576
|
0.00028
|
NM_001384474.1(LOXHD1):c.4824C>G (p.Val1608=)
|
rs114557260
|
0.00028
|
NM_001386140.1(MTTP):c.2657C>T (p.Pro886Leu)
|
rs144600401
|
0.00028
|
NM_002076.4(GNS):c.1434C>G (p.Val478=)
|
rs141958901
|
0.00028
|
NM_004629.2(FANCG):c.1545C>T (p.Ala515=)
|
rs201422773
|
0.00028
|
NM_006005.3(WFS1):c.1760G>A (p.Arg587Gln)
|
rs71539657
|
0.00028
|
NM_012434.5(SLC17A5):c.1432G>A (p.Ala478Thr)
|
rs141341430
|
0.00028
|
NM_022464.5(SIL1):c.1167C>T (p.Pro389=)
|
rs199890503
|
0.00028
|
NM_033305.3(VPS13A):c.1528C>T (p.Leu510=)
|
rs147954757
|
0.00028
|
NM_053025.4(MYLK):c.5114+8G>A
|
rs202229368
|
0.00028
|
NM_000211.5(ITGB2):c.1877+12C>T
|
rs200144784
|
0.00027
|
NM_000271.5(NPC1):c.1011G>T (p.Arg337=)
|
rs147795644
|
0.00027
|
NM_000318.3(PEX2):c.447T>G (p.Gly149=)
|
rs375401977
|
0.00027
|
NM_001267550.2(TTN):c.82402A>C (p.Lys27468Gln)
|
rs201958805
|
0.00027
|
NM_001355436.2(SPTB):c.1577C>T (p.Thr526Ile)
|
rs145315673
|
0.00027
|
NM_001384474.1(LOXHD1):c.4031G>T (p.Cys1344Phe)
|
rs368870055
|
0.00027
|
NM_002292.4(LAMB2):c.5142G>A (p.Lys1714=)
|
rs139511264
|
0.00027
|
NM_002485.5(NBN):c.1262T>C (p.Leu421Ser)
|
rs104895032
|
0.00027
|
NM_002529.4(NTRK1):c.575G>C (p.Gly192Ala)
|
rs201185829
|
0.00027
|
NM_003283.6(TNNT1):c.-12+15G>A
|
rs539247551
|
0.00027
|
NM_003331.5(TYK2):c.1141C>T (p.Arg381Trp)
|
rs201240289
|
0.00027
|
NM_003664.5(AP3B1):c.303C>T (p.Tyr101=)
|
rs115747826
|
0.00027
|
NM_003849.4(SUCLG1):c.345T>C (p.Ala115=)
|
rs374594774
|
0.00027
|
NM_004239.4(TRIP11):c.202-11T>G
|
rs561503305
|
0.00027
|
NM_006348.5(COG5):c.2401T>C (p.Ser801Pro)
|
rs141942249
|
0.00027
|
NM_007374.3(SIX6):c.636G>C (p.Thr212=)
|
rs140601427
|
0.00027
|
NM_022356.4(P3H1):c.693G>A (p.Ala231=)
|
rs149113630
|
0.00027
|
NM_152564.5(VPS13B):c.7366G>A (p.Val2456Ile)
|
rs201963516
|
0.00027
|
NM_198578.4(LRRK2):c.4536+3A>G
|
rs41286476
|
0.00027
|
NM_000018.4(ACADVL):c.1533-4T>A
|
rs369986567
|
0.00026
|
NM_000037.4(ANK1):c.876G>A (p.Leu292=)
|
rs373060967
|
0.00026
|
NM_000059.4(BRCA2):c.2412A>G (p.Glu804=)
|
rs587780866
|
0.00026
|
NM_000059.4(BRCA2):c.4686A>G (p.Gln1562=)
|
rs28897730
|
0.00026
|
NM_000080.4(CHRNE):c.23T>C (p.Val8Ala)
|
rs199807050
|
0.00026
|
NM_000081.4(LYST):c.6487G>A (p.Ala2163Thr)
|
rs201513511
|
0.00026
|
NM_000081.4(LYST):c.7368T>C (p.Asn2456=)
|
rs199631995
|
0.00026
|
NM_000096.4(CP):c.2565C>T (p.Leu855=)
|
rs781672409
|
0.00026
|
NM_000130.5(F5):c.996A>C (p.Lys332Asn)
|
rs143509841
|
0.00026
|
NM_000152.5(GAA):c.2736G>A (p.Ala912=)
|
rs142472738
|
0.00026
|
NM_000154.2(GALK1):c.-22T>C
|
rs545362817
|
0.00026
|
NM_000215.4(JAK3):c.187A>G (p.Ile63Val)
|
rs144405201
|
0.00026
|
NM_000295.5(SERPINA1):c.171C>T (p.Phe57=)
|
rs150784949
|
0.00026
|
NM_000317.3(PTS):c.195T>C (p.Pro65=)
|
rs143472856
|
0.00026
|
NM_000341.4(SLC3A1):c.1473C>T (p.Ala491=)
|
rs144065614
|
0.00026
|
NM_000355.4(TCN2):c.903C>T (p.Tyr301=)
|
rs146036025
|
0.00026
|
NM_000419.5(ITGA2B):c.2449-11C>T
|
rs201702898
|
0.00026
|
NM_000488.4(SERPINC1):c.870C>T (p.Phe290=)
|
rs370190321
|
0.00026
|
NM_000492.4(CFTR):c.374T>C (p.Ile125Thr)
|
rs141723617
|
0.00026
|
NM_000527.5(LDLR):c.1875C>T (p.Asn625=)
|
rs137853962
|
0.00026
|
NM_000528.4(MAN2B1):c.2619G>A (p.Pro873=)
|
rs372896479
|
0.00026
|
NM_000540.3(RYR1):c.4115C>T (p.Ala1372Val)
|
rs370966353
|
0.00026
|
NM_000553.6(WRN):c.2986G>A (p.Asp996Asn)
|
rs138379977
|
0.00026
|
NM_000751.3(CHRND):c.651G>A (p.Pro217=)
|
rs146205427
|
0.00026
|
NM_001033044.4(GLUL):c.880C>T (p.Leu294=)
|
rs199824213
|
0.00026
|
NM_001035.3(RYR2):c.*1108A>G
|
rs540171235
|
0.00026
|
NM_001101426.4(CRPPA):c.999T>C (p.Asp333=)
|
rs376909665
|
0.00026
|
NM_001130987.2(DYSF):c.2217-11G>A
|
rs200853014
|
0.00026
|
NM_001142800.2(EYS):c.9237A>G (p.Leu3079=)
|
rs139944387
|
0.00026
|
NM_001199397.3(NEK1):c.3583+8A>C
|
rs192372022
|
0.00026
|
NM_001352514.2(HLCS):c.1073C>T (p.Thr358Met)
|
rs142524025
|
0.00026
|
NM_001384474.1(LOXHD1):c.1313A>G (p.Lys438Arg)
|
rs186138859
|
0.00026
|
NM_001384474.1(LOXHD1):c.231C>T (p.Leu77=)
|
rs200306249
|
0.00026
|
NM_001844.5(COL2A1):c.2680-9C>T
|
rs369022247
|
0.00026
|
NM_001875.5(CPS1):c.1569A>G (p.Arg523=)
|
rs140475976
|
0.00026
|
NM_001999.4(FBN2):c.1850-9C>T
|
rs199937209
|
0.00026
|
NM_002292.4(LAMB2):c.2322C>G (p.Thr774=)
|
rs142116851
|
0.00026
|
NM_002633.3(PGM1):c.1103C>T (p.Ala368Val)
|
rs145972303
|
0.00026
|
NM_003331.5(TYK2):c.2670G>C (p.Thr890=)
|
rs144332908
|
0.00026
|
NM_003748.4(ALDH4A1):c.1377G>C (p.Pro459=)
|
rs146222625
|
0.00026
|
NM_005609.4(PYGM):c.1870G>A (p.Val624Ile)
|
rs143217651
|
0.00026
|
NM_005609.4(PYGM):c.2268C>T (p.Pro756=)
|
rs144229867
|
0.00026
|
NM_006892.4(DNMT3B):c.1620G>A (p.Lys540=)
|
rs368295290
|
0.00026
|
NM_007294.4(BRCA1):c.736T>G (p.Leu246Val)
|
rs28897675
|
0.00026
|
NM_012203.2(GRHPR):c.468C>T (p.Val156=)
|
rs142509393
|
0.00026
|
NM_014141.6(CNTNAP2):c.3174C>G (p.Thr1058=)
|
rs143226012
|
0.00026
|
NM_014244.5(ADAMTS2):c.724G>A (p.Ala242Thr)
|
rs372103269
|
0.00026
|
NM_014363.6(SACS):c.12438G>A (p.Ser4146=)
|
rs150959878
|
0.00026
|
NM_020320.5(RARS2):c.1637C>T (p.Pro546Leu)
|
rs142348911
|
0.00026
|
NM_020919.4(ALS2):c.1677A>G (p.Lys559=)
|
rs367640165
|
0.00026
|
NM_022124.6(CDH23):c.3213G>A (p.Glu1071=)
|
rs140255091
|
0.00026
|
NM_022124.6(CDH23):c.9629T>C (p.Ile3210Thr)
|
rs144688588
|
0.00026
|
NM_024589.3(ROGDI):c.378G>C (p.Leu126=)
|
rs145588848
|
0.00026
|
NM_024996.7(GFM1):c.1831C>T (p.Leu611=)
|
rs190393538
|
0.00026
|
NM_030777.4(SLC2A10):c.931G>A (p.Val311Ile)
|
rs139932041
|
0.00026
|
NM_032444.4(SLX4):c.86G>A (p.Arg29His)
|
rs149117119
|
0.00026
|
NM_183050.4(BCKDHB):c.744G>A (p.Ala248=)
|
rs147719822
|
0.00026
|
NM_000037.4(ANK1):c.447G>T (p.Ala149=)
|
rs140550365
|
0.00025
|
NM_000051.4(ATM):c.5975A>C (p.Lys1992Thr)
|
rs150757822
|
0.00025
|
NM_000081.4(LYST):c.4578T>A (p.Asn1526Lys)
|
rs117609949
|
0.00025
|
NM_000112.4(SLC26A2):c.229A>C (p.Asn77His)
|
rs76784312
|
0.00025
|
NM_000130.5(F5):c.2868T>C (p.Tyr956=)
|
rs149067268
|
0.00025
|
NM_000135.4(FANCA):c.2799A>G (p.Leu933=)
|
rs148250597
|
0.00025
|
NM_000186.4(CFH):c.3133+4C>G
|
rs374729595
|
0.00025
|
NM_000343.4(SLC5A1):c.1280+8C>G
|
rs200130719
|
0.00025
|
NM_000498.3(CYP11B2):c.477G>A (p.Pro159=)
|
rs375242946
|
0.00025
|
NM_000501.4(ELN):c.930C>T (p.Ala310=)
|
rs147367888
|
0.00025
|
NM_000528.4(MAN2B1):c.1158G>A (p.Gln386=)
|
rs112829030
|
0.00025
|
NM_000540.3(RYR1):c.6478G>A (p.Gly2160Ser)
|
rs143398211
|
0.00025
|
NM_001035.3(RYR2):c.2574G>A (p.Thr858=)
|
rs367992907
|
0.00025
|
NM_001035.3(RYR2):c.6689-12T>C
|
rs370972311
|
0.00025
|
NM_001130987.2(DYSF):c.2668G>A (p.Glu890Lys)
|
rs200049922
|
0.00025
|
NM_001134363.3(RBM20):c.850G>A (p.Gly284Arg)
|
rs201148126
|
0.00025
|
NM_002435.3(MPI):c.671-4T>G
|
rs199719453
|
0.00025
|
NM_002474.3(MYH11):c.5585G>A (p.Arg1862His)
|
rs146228576
|
0.00025
|
NM_003849.4(SUCLG1):c.110G>C (p.Gly37Ala)
|
rs369610897
|
0.00025
|
NM_005609.4(PYGM):c.612C>T (p.Tyr204=)
|
rs200467937
|
0.00025
|
NM_005902.4(SMAD3):c.207-10G>A
|
rs201912204
|
0.00025
|
NM_020320.5(RARS2):c.207A>G (p.Ala69=)
|
rs568483789
|
0.00025
|
NM_022124.6(CDH23):c.4892C>T (p.Ala1631Val)
|
rs370762269
|
0.00025
|
NM_053025.4(MYLK):c.2253C>T (p.Thr751=)
|
rs138777049
|
0.00025
|
NM_152269.5(MTRFR):c.336A>G (p.Leu112=)
|
rs138538426
|
0.00025
|
NM_152618.3(BBS12):c.1257C>T (p.Ser419=)
|
rs34652786
|
0.00025
|
NM_201253.3(CRB1):c.2230C>A (p.Arg744=)
|
rs150412614
|
0.00025
|
NM_000073.3(CD3G):c.511T>C (p.Tyr171His)
|
rs148191859
|
0.00024
|
NM_000135.4(FANCA):c.2589C>A (p.Gly863=)
|
rs72807571
|
0.00024
|
NM_000152.5(GAA):c.1552-14C>T
|
rs199715011
|
0.00024
|
NM_000154.2(GALK1):c.447G>A (p.Thr149=)
|
rs765744088
|
0.00024
|
NM_000211.5(ITGB2):c.1575C>T (p.Pro525=)
|
rs200615045
|
0.00024
|
NM_000246.4(CIITA):c.2817-10T>C
|
rs75381106
|
0.00024
|
NM_000257.4(MYH7):c.4377G>T (p.Lys1459Asn)
|
rs201307101
|
0.00024
|
NM_000294.3(PHKG2):c.360A>G (p.Thr120=)
|
rs149163610
|
0.00024
|
NM_000350.3(ABCA4):c.3758C>T (p.Thr1253Met)
|
rs61752424
|
0.00024
|
NM_000359.3(TGM1):c.167C>T (p.Ala56Val)
|
rs147479810
|
0.00024
|
NM_000481.4(AMT):c.152C>T (p.Ala51Val)
|
rs34812788
|
0.00024
|
NM_000501.4(ELN):c.861G>A (p.Gly287=)
|
rs368610108
|
0.00024
|
NM_000540.3(RYR1):c.7026C>T (p.Asn2342=)
|
rs202061237
|
0.00024
|
NM_000709.4(BCKDHA):c.744C>T (p.Ala248=)
|
rs137960127
|
0.00024
|
NM_001008216.2(GALE):c.423C>T (p.Tyr141=)
|
rs138518245
|
0.00024
|
NM_001035.3(RYR2):c.12492G>A (p.Gln4164=)
|
rs377293019
|
0.00024
|
NM_001040716.2(PC):c.715A>G (p.Ile239Val)
|
rs148805312
|
0.00024
|
NM_001130987.2(DYSF):c.3125C>T (p.Pro1042Leu)
|
rs372880553
|
0.00024
|
NM_001130987.2(DYSF):c.4780C>T (p.Pro1594Ser)
|
rs149768871
|
0.00024
|
NM_001134363.3(RBM20):c.2452G>T (p.Ala818Ser)
|
rs200271618
|
0.00024
|
NM_001166114.2(PNPLA6):c.3699+9G>A
|
rs201144113
|
0.00024
|
NM_001199397.3(NEK1):c.1617G>A (p.Gln539=)
|
rs146569517
|
0.00024
|
NM_001277115.2(DNAH11):c.3853-5C>G
|
rs367628980
|
0.00024
|
NM_001277115.2(DNAH11):c.4945-12T>C
|
rs141572016
|
0.00024
|
NM_001368894.2(PAX6):c.985T>C (p.Leu329=)
|
rs373147550
|
0.00024
|
NM_001377.3(DYNC2H1):c.5642G>A (p.Arg1881Lys)
|
rs199541807
|
0.00024
|
NM_001377.3(DYNC2H1):c.8311+10A>G
|
rs376842066
|
0.00024
|
NM_001378615.1(CC2D2A):c.4809C>G (p.Pro1603=)
|
rs367841700
|
0.00024
|
NM_001457.4(FLNB):c.3594G>A (p.Thr1198=)
|
rs143566075
|
0.00024
|
NM_001457.4(FLNB):c.7255G>A (p.Val2419Ile)
|
rs202143851
|
0.00024
|
NM_001558.4(IL10RA):c.96G>A (p.Val32=)
|
rs377525753
|
0.00024
|
NM_002474.3(MYH11):c.2802G>A (p.Glu934=)
|
rs138977949
|
0.00024
|
NM_002693.3(POLG):c.2541C>T (p.Ala847=)
|
rs143810171
|
0.00024
|
NM_003119.4(SPG7):c.1359G>A (p.Ala453=)
|
rs115448299
|
0.00024
|
NM_003560.4(PLA2G6):c.773C>T (p.Ser258Leu)
|
rs147924368
|
0.00024
|
NM_003664.5(AP3B1):c.2310C>T (p.Asp770=)
|
rs142938290
|
0.00024
|
NM_003850.3(SUCLA2):c.49C>G (p.Arg17Gly)
|
rs200124902
|
0.00024
|
NM_004239.4(TRIP11):c.5889G>A (p.Ala1963=)
|
rs142075650
|
0.00024
|
NM_005518.4(HMGCS2):c.570C>T (p.Ala190=)
|
rs201735169
|
0.00024
|
NM_005787.6(ALG3):c.933-4C>T
|
rs190571910
|
0.00024
|
NM_006206.6(PDGFRA):c.801A>G (p.Pro267=)
|
rs55966236
|
0.00024
|
NM_006445.4(PRPF8):c.1253C>G (p.Thr418Ser)
|
rs142411659
|
0.00024
|
NM_014363.6(SACS):c.8577C>T (p.His2859=)
|
rs140016265
|
0.00024
|
NM_014946.4(SPAST):c.1625A>G (p.Asp542Gly)
|
rs142053576
|
0.00024
|
NM_020366.4(RPGRIP1):c.2435G>A (p.Arg812Gln)
|
rs190490019
|
0.00024
|
NM_020975.6(RET):c.785T>C (p.Val262Ala)
|
rs139790943
|
0.00024
|
NM_022367.4(SEMA4A):c.1086A>C (p.Ser362=)
|
rs145993678
|
0.00024
|
NM_024105.4(ALG12):c.470-11C>T
|
rs375328311
|
0.00024
|
NM_024422.6(DSC2):c.857G>T (p.Gly286Val)
|
rs199682735
|
0.00024
|
NM_025099.6(CTC1):c.862G>A (p.Val288Met)
|
rs201553464
|
0.00024
|
NM_025137.4(SPG11):c.491C>T (p.Ser164Leu)
|
rs148175530
|
0.00024
|
NM_031885.5(BBS2):c.1104C>T (p.Asn368=)
|
rs141731677
|
0.00024
|
NM_032043.3(BRIP1):c.139C>G (p.Pro47Ala)
|
rs28903098
|
0.00024
|
NM_058216.3(RAD51C):c.145+12T>G
|
rs377297129
|
0.00024
|
NM_133459.4(CCBE1):c.966G>A (p.Ala322=)
|
rs144169027
|
0.00024
|
NM_138694.4(PKHD1):c.1257C>T (p.Val419=)
|
rs374650666
|
0.00024
|
NM_152564.5(VPS13B):c.1440C>T (p.Phe480=)
|
rs141324814
|
0.00024
|
NM_153033.5(KCTD7):c.687T>C (p.Asp229=)
|
rs372150992
|
0.00024
|
NM_194248.3(OTOF):c.327+5G>T
|
rs370643920
|
0.00024
|
NM_198525.3(KIF7):c.2613G>A (p.Glu871=)
|
rs370595622
|
0.00024
|
NM_000038.6(APC):c.6526T>C (p.Leu2176=)
|
rs183468041
|
0.00023
|
NM_000064.4(C3):c.1873A>T (p.Ile625Phe)
|
rs144432231
|
0.00023
|
NM_000138.5(FBN1):c.6314-15G>A
|
rs200841830
|
0.00023
|
NM_000199.5(SGSH):c.780C>T (p.Ala260=)
|
rs530964770
|
0.00023
|
NM_000260.4(MYO7A):c.1288C>T (p.Arg430Cys)
|
rs201839693
|
0.00023
|
NM_000277.3(PAH):c.1161C>T (p.Tyr387=)
|
rs149595475
|
0.00023
|
NM_000284.4(PDHA1):c.894A>G (p.Gly298=)
|
rs1329322647
|
0.00023
|
NM_000290.4(PGAM2):c.288A>G (p.Thr96=)
|
rs139561812
|
0.00023
|
NM_001164508.2(NEB):c.1899A>T (p.Arg633Ser)
|
rs77826191
|
0.00023
|
NM_001164508.2(NEB):c.5181C>T (p.Tyr1727=)
|
rs35016946
|
0.00023
|
NM_001166114.2(PNPLA6):c.225A>G (p.Arg75=)
|
rs553088930
|
0.00023
|
NM_001277115.2(DNAH11):c.12601C>T (p.Pro4201Ser)
|
rs200166341
|
0.00023
|
NM_001277115.2(DNAH11):c.12899G>A (p.Arg4300His)
|
rs377388499
|
0.00023
|
NM_001365088.1(SLC12A6):c.1012C>T (p.Arg338Cys)
|
rs77122016
|
0.00023
|
NM_001365536.1(SCN9A):c.1980G>A (p.Thr660=)
|
rs200014315
|
0.00023
|
NM_001395413.1(POR):c.1482G>T (p.Leu494=)
|
rs370326231
|
0.00023
|
NM_001558.4(IL10RA):c.781C>T (p.Arg261Trp)
|
rs201396764
|
0.00023
|
NM_002529.4(NTRK1):c.641G>A (p.Arg214Gln)
|
rs200132482
|
0.00023
|
NM_003060.4(SLC22A5):c.-26G>A
|
rs369724970
|
0.00023
|
NM_003060.4(SLC22A5):c.1643G>A (p.Arg548Lys)
|
rs150775371
|
0.00023
|
NM_006005.3(WFS1):c.2250C>T (p.Ala750=)
|
rs369498603
|
0.00023
|
NM_014855.3(AP5Z1):c.1785G>T (p.Gly595=)
|
rs774921196
|
0.00023
|
NM_015192.4(PLCB1):c.714A>C (p.Pro238=)
|
rs147567110
|
0.00023
|
NM_017636.4(TRPM4):c.1836G>A (p.Arg612=)
|
rs112589404
|
0.00023
|
NM_024422.6(DSC2):c.2587G>A (p.Gly863Arg)
|
rs147109895
|
0.00023
|
NM_030777.4(SLC2A10):c.317C>G (p.Ala106Gly)
|
rs144095826
|
0.00023
|
NM_130849.4(SLC39A4):c.615C>T (p.Phe205=)
|
rs201681875
|
0.00023
|
NM_194454.3(KRIT1):c.1326C>G (p.Thr442=)
|
rs150912644
|
0.00023
|
NM_198578.4(LRRK2):c.6801C>T (p.Thr2267=)
|
rs148143226
|
0.00023
|
NM_198904.4(GABRG2):c.922+6A>G
|
rs375294947
|
0.00023
|
NM_213653.4(HJV):c.435G>C (p.Pro145=)
|
rs370184725
|
0.00023
|
NM_000038.6(APC):c.7036C>T (p.Pro2346Ser)
|
rs200756935
|
0.00022
|
NM_000053.4(ATP7B):c.3105C>T (p.Gly1035=)
|
rs200324179
|
0.00022
|
NM_000081.4(LYST):c.2754G>A (p.Glu918=)
|
rs373577384
|
0.00022
|
NM_000108.5(DLD):c.321A>G (p.Ala107=)
|
rs138398782
|
0.00022
|
NM_000137.4(FAH):c.747A>G (p.Pro249=)
|
rs138757552
|
0.00022
|
NM_000181.4(GUSB):c.1240C>T (p.Leu414=)
|
rs150686327
|
0.00022
|
NM_000222.3(KIT):c.2349C>T (p.Leu783=)
|
rs151046591
|
0.00022
|
NM_000235.4(LIPA):c.1009A>G (p.Thr337Ala)
|
rs143793106
|
0.00022
|
NM_000237.3(LPL):c.687T>C (p.His229=)
|
rs45607438
|
0.00022
|
NM_000350.3(ABCA4):c.1155C>T (p.Ile385=)
|
rs376624031
|
0.00022
|
NM_000360.4(TH):c.12C>T (p.Pro4=)
|
rs147131010
|
0.00022
|
NM_000400.4(ERCC2):c.1905G>A (p.Ala635=)
|
rs145835916
|
0.00022
|
NM_000518.5(HBB):c.246C>A (p.Leu82=)
|
rs145669504
|
0.00022
|
NM_000518.5(HBB):c.294C>T (p.His98=)
|
rs34515413
|
0.00022
|
NM_000532.5(PCCB):c.544-5G>C
|
rs372351800
|
0.00022
|
NM_000540.3(RYR1):c.3555C>T (p.Asp1185=)
|
rs377282283
|
0.00022
|
NM_000540.3(RYR1):c.6639C>T (p.Asn2213=)
|
rs374630822
|
0.00022
|
NM_000787.4(DBH):c.291C>T (p.Asn97=)
|
rs75734048
|
0.00022
|
NM_001005242.3(PKP2):c.302G>A (p.Arg101His)
|
rs149542398
|
0.00022
|
NM_001160372.4(TRAPPC9):c.3411C>A (p.Pro1137=)
|
rs373979305
|
0.00022
|
NM_001160372.4(TRAPPC9):c.370A>G (p.Ile124Val)
|
rs117688394
|
0.00022
|
NM_001164508.2(NEB):c.17845-5G>A
|
rs373390654
|
0.00022
|
NM_001256715.2(DNAAF3):c.1049-1G>A
|
rs199590885
|
0.00022
|
NM_001277115.2(DNAH11):c.9783G>C (p.Glu3261Asp)
|
rs201944089
|
0.00022
|
NM_001377.3(DYNC2H1):c.10043-7T>A
|
rs376067770
|
0.00022
|
NM_001457.4(FLNB):c.1534G>A (p.Ala512Thr)
|
rs201544295
|
0.00022
|
NM_001457.4(FLNB):c.3052G>A (p.Val1018Met)
|
rs2276742
|
0.00022
|
NM_002435.3(MPI):c.573C>T (p.Ala191=)
|
rs200903491
|
0.00022
|
NM_002617.4(PEX10):c.611G>A (p.Arg204His)
|
rs199934621
|
0.00022
|
NM_004132.5(HABP2):c.753G>A (p.Ala251=)
|
rs146758495
|
0.00022
|
NM_004360.5(CDH1):c.33G>C (p.Leu11=)
|
rs730881654
|
0.00022
|
NM_005198.5(CHKB):c.263C>T (p.Pro88Leu)
|
rs146163970
|
0.00022
|
NM_005609.4(PYGM):c.2177+7G>A
|
rs201366697
|
0.00022
|
NM_006005.3(WFS1):c.1792G>A (p.Ala598Thr)
|
rs140125843
|
0.00022
|
NM_006005.3(WFS1):c.1957C>T (p.Arg653Cys)
|
rs201064551
|
0.00022
|
NM_014244.5(ADAMTS2):c.2109C>T (p.Ile703=)
|
rs200210415
|
0.00022
|
NM_016042.4(EXOSC3):c.166A>C (p.Asn56His)
|
rs148348866
|
0.00022
|
NM_017775.4(TTC19):c.313-4T>C
|
rs374666326
|
0.00022
|
NM_020533.3(MCOLN1):c.1359+13C>T
|
rs143068910
|
0.00022
|
NM_022356.4(P3H1):c.1428C>T (p.Gly476=)
|
rs141786883
|
0.00022
|
NM_024312.5(GNPTAB):c.70T>G (p.Phe24Val)
|
rs141329633
|
0.00022
|
NM_024422.6(DSC2):c.854T>C (p.Ile285Thr)
|
rs199918720
|
0.00022
|
NM_025000.4(DCAF17):c.533G>A (p.Arg178Gln)
|
rs202231211
|
0.00022
|
NM_025099.6(CTC1):c.3498G>A (p.Ser1166=)
|
rs369209127
|
0.00022
|
NM_025137.4(SPG11):c.6010T>G (p.Leu2004Val)
|
rs200220848
|
0.00022
|
NM_032520.5(GNPTG):c.67G>C (p.Gly23Arg)
|
rs547624231
|
0.00022
|
NM_053025.4(MYLK):c.5477C>T (p.Ala1826Val)
|
rs147187907
|
0.00022
|
NM_053025.4(MYLK):c.842A>G (p.Lys281Arg)
|
rs147770839
|
0.00022
|
NM_152564.5(VPS13B):c.1639A>G (p.Thr547Ala)
|
rs142971568
|
0.00022
|
NM_152618.3(BBS12):c.1499T>C (p.Val500Ala)
|
rs145392789
|
0.00022
|
NM_000037.4(ANK1):c.669G>A (p.Gln223=)
|
rs375060699
|
0.00021
|
NM_000059.4(BRCA2):c.5312G>A (p.Gly1771Asp)
|
rs80358755
|
0.00021
|
NM_000079.4(CHRNA1):c.319C>T (p.Arg107Cys)
|
rs140268343
|
0.00021
|
NM_000081.4(LYST):c.3898A>G (p.Ile1300Val)
|
rs199855658
|
0.00021
|
NM_000081.4(LYST):c.4006+8G>A
|
rs369153654
|
0.00021
|
NM_000081.4(LYST):c.9045-13T>C
|
rs181450025
|
0.00021
|
NM_000096.4(CP):c.1104G>C (p.Gly368=)
|
rs142503847
|
0.00021
|
NM_000130.5(F5):c.2864G>T (p.Ser955Ile)
|
rs199507543
|
0.00021
|
NM_000135.4(FANCA):c.4302C>T (p.Ala1434=)
|
rs142784426
|
0.00021
|
NM_000151.4(G6PC1):c.909C>T (p.Leu303=)
|
rs368282218
|
0.00021
|
NM_000152.5(GAA):c.2152G>A (p.Val718Ile)
|
rs141017311
|
0.00021
|
NM_000246.4(CIITA):c.2892G>A (p.Leu964=)
|
rs200599265
|
0.00021
|
NM_000256.3(MYBPC3):c.74G>A (p.Ser25Asn)
|
rs371140684
|
0.00021
|
NM_000263.4(NAGLU):c.2043G>A (p.Ala681=)
|
rs115401566
|
0.00021
|
NM_000345.4(SNCA):c.216G>A (p.Thr72=)
|
rs144758871
|
0.00021
|
NM_000350.3(ABCA4):c.3568G>A (p.Ala1190Thr)
|
rs368692594
|
0.00021
|
NM_000350.3(ABCA4):c.4578G>A (p.Thr1526=)
|
rs138831474
|
0.00021
|
NM_000355.4(TCN2):c.522C>T (p.Ser174=)
|
rs537115632
|
0.00021
|
NM_000414.4(HSD17B4):c.950C>T (p.Thr317Met)
|
rs150326995
|
0.00021
|
NM_000441.2(SLC26A4):c.1544+9C>T
|
rs368970459
|
0.00021
|
NM_000506.5(F2):c.495G>A (p.Thr165=)
|
rs144857547
|
0.00021
|
NM_000512.5(GALNS):c.771C>T (p.Ala257=)
|
rs370586494
|
0.00021
|
NM_000709.4(BCKDHA):c.1251C>T (p.Pro417=)
|
rs147021347
|
0.00021
|
NM_000709.4(BCKDHA):c.125A>G (p.Gln42Arg)
|
rs150177278
|
0.00021
|
NM_001010892.3(RSPH4A):c.930C>T (p.Asn310=)
|
rs180881714
|
0.00021
|
NM_001033855.3(DCLRE1C):c.1368C>T (p.Asn456=)
|
rs144654282
|
0.00021
|
NM_001035.3(RYR2):c.13137C>A (p.Ile4379=)
|
rs369917806
|
0.00021
|
NM_001035.3(RYR2):c.577-14G>A
|
rs148019277
|
0.00021
|
NM_001040716.2(PC):c.1446C>T (p.Asp482=)
|
rs145891535
|
0.00021
|
NM_001130987.2(DYSF):c.4106A>G (p.Asn1369Ser)
|
rs139529811
|
0.00021
|
NM_001130987.2(DYSF):c.6256A>G (p.Ile2086Val)
|
rs150834671
|
0.00021
|
NM_001130987.2(DYSF):c.628G>A (p.Gly210Arg)
|
rs143562525
|
0.00021
|
NM_001161352.2(KCNMA1):c.2398G>T (p.Asp800Tyr)
|
rs142210216
|
0.00021
|
NM_001277115.2(DNAH11):c.2419G>C (p.Asp807His)
|
rs369849556
|
0.00021
|
NM_001277115.2(DNAH11):c.2499C>T (p.Asn833=)
|
rs201231307
|
0.00021
|
NM_001277115.2(DNAH11):c.9925-7T>C
|
rs146815254
|
0.00021
|
NM_001384474.1(LOXHD1):c.1887C>T (p.Ser629=)
|
rs189550119
|
0.00021
|
NM_001384474.1(LOXHD1):c.1944C>T (p.Ser648=)
|
rs369039902
|
0.00021
|
NM_001875.5(CPS1):c.234A>G (p.Gly78=)
|
rs182678639
|
0.00021
|
NM_001875.5(CPS1):c.5C>T (p.Thr2Met)
|
rs150314086
|
0.00021
|
NM_001953.5(TYMP):c.1176C>T (p.Val392=)
|
rs770533125
|
0.00021
|
NM_001999.4(FBN2):c.3394G>A (p.Val1132Ile)
|
rs138834515
|
0.00021
|
NM_002185.5(IL7R):c.1165G>C (p.Asp389His)
|
rs143596606
|
0.00021
|
NM_002529.4(NTRK1):c.630C>T (p.Asp210=)
|
rs147882947
|
0.00021
|
NM_002617.4(PEX10):c.776+8C>T
|
rs370594705
|
0.00021
|
NM_002633.3(PGM1):c.420A>G (p.Pro140=)
|
rs141007881
|
0.00021
|
NM_003640.5(ELP1):c.1878C>T (p.Asp626=)
|
rs141596257
|
0.00021
|
NM_003849.4(SUCLG1):c.87C>T (p.Arg29=)
|
rs371938859
|
0.00021
|
NM_004415.4(DSP):c.2422C>T (p.Arg808Cys)
|
rs150339369
|
0.00021
|
NM_005535.3(IL12RB1):c.1048G>A (p.Gly350Arg)
|
rs200811721
|
0.00021
|
NM_005546.4(ITK):c.237G>A (p.Pro79=)
|
rs201403794
|
0.00021
|
NM_005591.4(MRE11):c.1491C>T (p.Ile497=)
|
rs199634245
|
0.00021
|
NM_006005.3(WFS1):c.1758C>T (p.Ala586=)
|
rs145144527
|
0.00021
|
NM_006623.4(PHGDH):c.412-15C>T
|
rs368681081
|
0.00021
|
NM_007294.4(BRCA1):c.2477C>A (p.Thr826Lys)
|
rs28897683
|
0.00021
|
NM_012073.5(CCT5):c.1425C>T (p.Thr475=)
|
rs370529963
|
0.00021
|
NM_014336.5(AIPL1):c.737A>C (p.Tyr246Ser)
|
rs138585919
|
0.00021
|
NM_014714.4(IFT140):c.3271-4G>A
|
rs200815296
|
0.00021
|
NM_014714.4(IFT140):c.410G>A (p.Arg137Gln)
|
rs145718272
|
0.00021
|
NM_015272.5(RPGRIP1L):c.444T>C (p.Thr148=)
|
rs202149647
|
0.00021
|
NM_017636.4(TRPM4):c.748C>T (p.Arg250Cys)
|
rs144208673
|
0.00021
|
NM_017882.3(CLN6):c.282C>A (p.Pro94=)
|
rs139261571
|
0.00021
|
NM_018714.3(COG1):c.2365G>A (p.Glu789Lys)
|
rs201867802
|
0.00021
|
NM_020166.5(MCCC1):c.2171C>T (p.Ser724Leu)
|
rs201806708
|
0.00021
|
NM_020376.4(PNPLA2):c.726C>T (p.Tyr242=)
|
rs144220751
|
0.00021
|
NM_021728.4(OTX2):c.273+11T>C
|
rs371958059
|
0.00021
|
NM_022124.6(CDH23):c.2711C>T (p.Pro904Leu)
|
rs199894395
|
0.00021
|
NM_022132.5(MCCC2):c.1657A>G (p.Ile553Val)
|
rs143156315
|
0.00021
|
NM_022436.3(ABCG5):c.1118+13C>G
|
rs371609600
|
0.00021
|
NM_024422.6(DSC2):c.907G>A (p.Val303Met)
|
rs145560678
|
0.00021
|
NM_052845.4(MMAB):c.333C>T (p.Ala111=)
|
rs769385276
|
0.00021
|
NM_052859.4(RFT1):c.831G>A (p.Val277=)
|
rs150391936
|
0.00021
|
NM_173842.3(IL1RN):c.117-9C>T
|
rs373136455
|
0.00021
|
NM_182894.3(VSX2):c.244G>A (p.Gly82Arg)
|
rs375294678
|
0.00021
|
NM_198578.4(LRRK2):c.5799A>T (p.Ile1933=)
|
rs139746572
|
0.00021
|
NM_198586.3(NHLRC1):c.990G>A (p.Gln330=)
|
rs148553723
|
0.00021
|
NM_000019.4(ACAT1):c.979A>G (p.Ile327Val)
|
rs150038447
|
0.00020
|
NM_000079.4(CHRNA1):c.1294G>A (p.Gly432Arg)
|
rs151081792
|
0.00020
|
NM_000081.4(LYST):c.10477T>C (p.Phe3493Leu)
|
rs200511787
|
0.00020
|
NM_000092.5(COL4A4):c.193-9C>G
|
rs190570269
|
0.00020
|
NM_000203.5(IDUA):c.1002G>A (p.Leu334=)
|
rs370582480
|
0.00020
|
NM_000203.5(IDUA):c.1332C>T (p.Asp444=)
|
rs545473192
|
0.00020
|
NM_000243.3(MEFV):c.1370C>T (p.Ala457Val)
|
rs104895151
|
0.00020
|
NM_000286.3(PEX12):c.84T>C (p.Ser28=)
|
rs200641558
|
0.00020
|
NM_000312.4(PROC):c.-54G>A
|
rs2069936
|
0.00020
|
NM_000382.3(ALDH3A2):c.1188T>G (p.Ser396=)
|
rs144496536
|
0.00020
|
NM_000426.4(LAMA2):c.5558T>G (p.Ile1853Arg)
|
rs141911213
|
0.00020
|
NM_000426.4(LAMA2):c.8988+15T>C
|
rs201041465
|
0.00020
|
NM_000441.2(SLC26A4):c.1491T>C (p.Gly497=)
|
rs150860491
|
0.00020
|
NM_000455.5(STK11):c.1296G>A (p.Gln432=)
|
rs587781179
|
0.00020
|
NM_000540.3(RYR1):c.2822C>T (p.Ala941Val)
|
rs748568687
|
0.00020
|
NM_000553.6(WRN):c.3139-9T>C
|
rs377226126
|
0.00020
|
NM_000751.3(CHRND):c.45G>A (p.Ala15=)
|
rs138609765
|
0.00020
|
NM_001003722.2(GLE1):c.643-4A>G
|
rs369804957
|
0.00020
|
NM_001035.3(RYR2):c.14220C>T (p.Ala4740=)
|
rs368971586
|
0.00020
|
NM_001065.4(TNFRSF1A):c.645C>T (p.Pro215=)
|
rs147075345
|
0.00020
|
NM_001080.3(ALDH5A1):c.1344-6T>C
|
rs368212282
|
0.00020
|
NM_001130987.2(DYSF):c.1784C>T (p.Ala595Val)
|
rs201515915
|
0.00020
|
NM_001164508.2(NEB):c.10608C>T (p.Gly3536=)
|
rs144673752
|
0.00020
|
NM_001164508.2(NEB):c.6381T>A (p.Asp2127Glu)
|
rs368302286
|
0.00020
|
NM_001277115.2(DNAH11):c.13399G>A (p.Val4467Met)
|
rs200609513
|
0.00020
|
NM_001365088.1(SLC12A6):c.966C>T (p.Gly322=)
|
rs142496698
|
0.00020
|
NM_002292.4(LAMB2):c.253G>A (p.Glu85Lys)
|
rs140371771
|
0.00020
|
NM_002303.6(LEPR):c.3019A>T (p.Ser1007Cys)
|
rs145651189
|
0.00020
|
NM_004320.6(ATP2A1):c.1329A>G (p.Thr443=)
|
rs376915313
|
0.00020
|
NM_005327.7(HADH):c.*514A>G
|
rs183594888
|
0.00020
|
NM_007272.3(CTRC):c.674A>C (p.Glu225Ala)
|
rs201486613
|
0.00020
|
NM_013339.4(ALG6):c.882T>C (p.Arg294=)
|
rs145894044
|
0.00020
|
NM_013435.3(RAX):c.783G>C (p.Pro261=)
|
rs766154387
|
0.00020
|
NM_014363.6(SACS):c.7200T>C (p.Phe2400=)
|
rs148544893
|
0.00020
|
NM_014714.4(IFT140):c.1230G>A (p.Ser410=)
|
rs199840711
|
0.00020
|
NM_017636.4(TRPM4):c.1874-9C>T
|
rs199805560
|
0.00020
|
NM_053025.4(MYLK):c.455G>A (p.Arg152His)
|
rs201754358
|
0.00020
|
NM_152263.4(TPM3):c.804C>T (p.Tyr268=)
|
rs762511246
|
0.00020
|
NM_174936.4(PCSK9):c.499C>T (p.Arg167Trp)
|
rs137878146
|
0.00020
|
NM_201548.5(CERKL):c.900T>C (p.His300=)
|
rs183252158
|
0.00020
|
NM_000037.4(ANK1):c.3533-10G>A
|
rs374510116
|
0.00019
|
NM_000038.6(APC):c.2205G>A (p.Ala735=)
|
rs141001261
|
0.00019
|
NM_000051.4(ATM):c.1272T>C (p.Pro424=)
|
rs35578748
|
0.00019
|
NM_000051.4(ATM):c.5821G>C (p.Val1941Leu)
|
rs147187700
|
0.00019
|
NM_000053.4(ATP7B):c.3069T>C (p.Thr1023=)
|
rs187343742
|
0.00019
|
NM_000053.4(ATP7B):c.740A>G (p.Glu247Gly)
|
rs376398239
|
0.00019
|
NM_000059.4(BRCA2):c.8905G>A (p.Val2969Met)
|
rs59004709
|
0.00019
|
NM_000130.5(F5):c.5124C>T (p.Tyr1708=)
|
rs199568344
|
0.00019
|
NM_000135.4(FANCA):c.3551G>C (p.Arg1184Pro)
|
rs147672303
|
0.00019
|
NM_000152.5(GAA):c.250G>A (p.Val84Ile)
|
rs139595011
|
0.00019
|
NM_000153.4(GALC):c.1272G>A (p.Gln424=)
|
rs376675180
|
0.00019
|
NM_000153.4(GALC):c.1573G>A (p.Glu525Lys)
|
rs146286491
|
0.00019
|
NM_000170.3(GLDC):c.1530G>A (p.Gly510=)
|
rs145665442
|
0.00019
|
NM_000170.3(GLDC):c.2570-10T>C
|
rs373987254
|
0.00019
|
NM_000179.3(MSH6):c.4001+11_4001+15dup
|
rs587779302
|
0.00019
|
NM_000212.3(ITGB3):c.2196C>T (p.Leu732=)
|
rs201741054
|
0.00019
|
NM_000212.3(ITGB3):c.537C>T (p.Phe179=)
|
rs770144031
|
0.00019
|
NM_000212.3(ITGB3):c.900T>C (p.His300=)
|
rs376378154
|
0.00019
|
NM_000215.4(JAK3):c.2680+15G>A
|
rs201288968
|
0.00019
|
NM_000222.3(KIT):c.952A>G (p.Met318Val)
|
rs143388949
|
0.00019
|
NM_000243.3(MEFV):c.1038C>G (p.Gly346=)
|
rs141090517
|
0.00019
|
NM_000251.3(MSH2):c.138C>G (p.His46Gln)
|
rs33946261
|
0.00019
|
NM_000271.5(NPC1):c.1947+7_1947+11dup
|
rs1555634670
|
0.00019
|
NM_000274.4(OAT):c.107G>C (p.Gly36Ala)
|
rs140786333
|
0.00019
|
NM_000277.3(PAH):c.399T>C (p.Asn133=)
|
rs145692106
|
0.00019
|
NM_000293.3(PHKB):c.1204+9G>T
|
rs200832185
|
0.00019
|
NM_000293.3(PHKB):c.2629G>A (p.Gly877Arg)
|
rs150902092
|
0.00019
|
NM_000302.4(PLOD1):c.1172A>G (p.Asn391Ser)
|
rs763409574
|
0.00019
|
NM_000303.3(PMM2):c.90C>G (p.Asp30Glu)
|
rs201556985
|
0.00019
|
NM_000308.4(CTSA):c.1059G>A (p.Pro353=)
|
rs74694805
|
0.00019
|
NM_000335.5(SCN5A):c.3228+6C>G
|
rs368048551
|
0.00019
|
NM_000355.4(TCN2):c.1017C>G (p.Leu339=)
|
rs35997415
|
0.00019
|
NM_000484.4(APP):c.982C>T (p.Arg328Trp)
|
rs200978018
|
0.00019
|
NM_000520.6(HEXA):c.1216C>T (p.Leu406=)
|
rs140482769
|
0.00019
|
NM_000520.6(HEXA):c.1421+14G>C
|
rs201497629
|
0.00019
|
NM_000538.4(RFXAP):c.77C>G (p.Pro26Arg)
|
rs763162669
|
0.00019
|
NM_000540.3(RYR1):c.11034+15G>A
|
rs552725260
|
0.00019
|
NM_000540.3(RYR1):c.2160C>G (p.Leu720=)
|
rs200914778
|
0.00019
|
NM_000540.3(RYR1):c.89A>T (p.Glu30Val)
|
rs145771708
|
0.00019
|
NM_000784.4(CYP27A1):c.789C>T (p.Pro263=)
|
rs143600636
|
0.00019
|
NM_001005373.4(LRSAM1):c.1515G>A (p.Ser505=)
|
rs140066362
|
0.00019
|
NM_001035.3(RYR2):c.1006-12C>T
|
rs367998175
|
0.00019
|
NM_001040716.2(PC):c.1266C>T (p.Tyr422=)
|
rs141324828
|
0.00019
|
NM_001040716.2(PC):c.89G>A (p.Arg30Gln)
|
rs199616332
|
0.00019
|
NM_001042492.3(NF1):c.4749A>G (p.Glu1583=)
|
rs144091165
|
0.00019
|
NM_001080.3(ALDH5A1):c.831G>A (p.Val277=)
|
rs138912422
|
0.00019
|
NM_001101426.4(CRPPA):c.876A>G (p.Glu292=)
|
rs371300262
|
0.00019
|
NM_001113378.2(FANCI):c.1963G>A (p.Gly655Arg)
|
rs138026584
|
0.00019
|
NM_001126108.2(SLC12A3):c.81C>G (p.Ser27Arg)
|
rs201850644
|
0.00019
|
NM_001130987.2(DYSF):c.6116G>A (p.Arg2039Gln)
|
rs115407852
|
0.00019
|
NM_001161352.2(KCNMA1):c.2946C>T (p.Ser982=)
|
rs74699271
|
0.00019
|
NM_001164508.2(NEB):c.4149C>T (p.Thr1383=)
|
rs148794372
|
0.00019
|
NM_001277115.2(DNAH11):c.9966A>G (p.Gln3322=)
|
rs201050208
|
0.00019
|
NM_001360.3(DHCR7):c.99-5C>T
|
rs372886043
|
0.00019
|
NM_001365536.1(SCN9A):c.129T>C (p.Asp43=)
|
rs200826539
|
0.00019
|
NM_001377.3(DYNC2H1):c.366+10G>A
|
rs200257097
|
0.00019
|
NM_001457.4(FLNB):c.2644G>C (p.Val882Leu)
|
rs139124254
|
0.00019
|
NM_001692.4(ATP6V1B1):c.1332C>T (p.Leu444=)
|
rs372223196
|
0.00019
|
NM_002234.4(KCNA5):c.898G>A (p.Gly300Ser)
|
rs148708451
|
0.00019
|
NM_002408.4(MGAT2):c.63C>T (p.Gly21=)
|
rs146729850
|
0.00019
|
NM_002778.4(PSAP):c.1476T>C (p.Thr492=)
|
rs139178900
|
0.00019
|
NM_003282.4(TNNI2):c.61G>A (p.Val21Met)
|
rs200110633
|
0.00019
|
NM_003465.3(CHIT1):c.508G>T (p.Ala170Ser)
|
rs151004649
|
0.00019
|
NM_003560.4(PLA2G6):c.441G>A (p.Ala147=)
|
rs371920697
|
0.00019
|
NM_003748.4(ALDH4A1):c.150G>A (p.Leu50=)
|
rs201605414
|
0.00019
|
NM_004035.7(ACOX1):c.574C>A (p.Gln192Lys)
|
rs200833797
|
0.00019
|
NM_004415.4(DSP):c.1344G>A (p.Leu448=)
|
rs138226280
|
0.00019
|
NM_004525.3(LRP2):c.11478G>A (p.Ala3826=)
|
rs150464677
|
0.00019
|
NM_004817.4(TJP2):c.2384C>T (p.Pro795Leu)
|
rs139867659
|
0.00019
|
NM_006261.5(PROP1):c.96G>A (p.Pro32=)
|
rs144314831
|
0.00019
|
NM_006790.3(MYOT):c.323A>C (p.Asn108Thr)
|
rs142416150
|
0.00019
|
NM_007194.4(CHEK2):c.1270T>C (p.Tyr424His)
|
rs139366548
|
0.00019
|
NM_012213.3(MLYCD):c.641+11C>T
|
rs200841672
|
0.00019
|
NM_012472.6(DNAAF11):c.178+13A>G
|
rs200580615
|
0.00019
|
NM_014000.3(VCL):c.2427C>T (p.Ser809=)
|
rs183739128
|
0.00019
|
NM_014141.6(CNTNAP2):c.561T>C (p.Val187=)
|
rs201200400
|
0.00019
|
NM_014141.6(CNTNAP2):c.837G>A (p.Val279=)
|
rs143507886
|
0.00019
|
NM_014244.5(ADAMTS2):c.1149C>T (p.Thr383=)
|
rs199664723
|
0.00019
|
NM_014297.5(ETHE1):c.184G>A (p.Ala62Thr)
|
rs138958351
|
0.00019
|
NM_014363.6(SACS):c.7647T>G (p.Leu2549=)
|
rs186301471
|
0.00019
|
NM_014363.6(SACS):c.99T>C (p.Asp33=)
|
rs775206528
|
0.00019
|
NM_014714.4(IFT140):c.2787G>A (p.Thr929=)
|
rs374661866
|
0.00019
|
NM_014714.4(IFT140):c.4381G>A (p.Asp1461Asn)
|
rs201065562
|
0.00019
|
NM_017668.3(NDE1):c.948-5740C>T
|
rs373378619
|
0.00019
|
NM_020533.3(MCOLN1):c.60C>T (p.Pro20=)
|
rs202247664
|
0.00019
|
NM_022041.4(GAN):c.283-14T>C
|
rs369700456
|
0.00019
|
NM_022098.4(XPNPEP3):c.597G>A (p.Thr199=)
|
rs151167805
|
0.00019
|
NM_022464.5(SIL1):c.192C>T (p.Ala64=)
|
rs148651377
|
0.00019
|
NM_024105.4(ALG12):c.1152C>G (p.Pro384=)
|
rs375721419
|
0.00019
|
NM_025099.6(CTC1):c.2895C>T (p.Ala965=)
|
rs373530008
|
0.00019
|
NM_025099.6(CTC1):c.597G>A (p.Thr199=)
|
rs373023392
|
0.00019
|
NM_025137.4(SPG11):c.5796T>C (p.His1932=)
|
rs375350193
|
0.00019
|
NM_030787.4(CFHR5):c.880G>A (p.Glu294Lys)
|
rs201084185
|
0.00019
|
NM_032043.3(BRIP1):c.36G>T (p.Gly12=)
|
rs45566938
|
0.00019
|
NM_052945.4(TNFRSF13C):c.213G>A (p.Ala71=)
|
rs767759337
|
0.00019
|
NM_053025.4(MYLK):c.257G>A (p.Arg86Gln)
|
rs138265409
|
0.00019
|
NM_130837.3(OPA1):c.2441-4dup
|
rs761286590
|
0.00019
|
NM_133259.4(LRPPRC):c.1929C>T (p.His643=)
|
rs200017171
|
0.00019
|
NM_144585.4(SLC22A12):c.1400C>T (p.Thr467Met)
|
rs200104135
|
0.00019
|
NM_152263.4(TPM3):c.249G>A (p.Glu83=)
|
rs149765446
|
0.00019
|
NM_152564.5(VPS13B):c.4225-6G>A
|
rs199755508
|
0.00019
|
NM_172201.2(KCNE2):c.153G>T (p.Leu51=)
|
rs143767851
|
0.00019
|
NM_174936.4(PCSK9):c.996+8del
|
rs768213924
|
0.00019
|
NM_199242.3(UNC13D):c.114G>A (p.Pro38=)
|
rs755103812
|
0.00019
|
NM_206933.4(USH2A):c.1539C>T (p.Thr513=)
|
rs199939890
|
0.00019
|
NM_000053.4(ATP7B):c.3422C>G (p.Pro1141Arg)
|
rs757549770
|
0.00018
|
NM_000130.5(F5):c.1297-13T>C
|
rs372389170
|
0.00018
|
NM_000138.5(FBN1):c.3590-8T>C
|
rs140600
|
0.00018
|
NM_000138.5(FBN1):c.902G>T (p.Gly301Val)
|
rs142888621
|
0.00018
|
NM_000158.4(GBE1):c.313+15G>A
|
rs184391304
|
0.00018
|
NM_000335.5(SCN5A):c.2074C>A (p.Gln692Lys)
|
rs45553235
|
0.00018
|
NM_000391.4(TPP1):c.796C>T (p.Arg266Trp)
|
rs200138397
|
0.00018
|
NM_000455.5(STK11):c.618G>A (p.Ala206=)
|
rs370976710
|
0.00018
|
NM_000488.4(SERPINC1):c.236G>A (p.Arg79His)
|
rs121909552
|
0.00018
|
NM_000515.5(GH1):c.546A>G (p.Leu182=)
|
rs4080078
|
0.00018
|
NM_000525.4(KCNJ11):c.354G>A (p.Ser118=)
|
rs140636367
|
0.00018
|
NM_000540.3(RYR1):c.4292C>T (p.Thr1431Met)
|
rs191656849
|
0.00018
|
NM_000540.3(RYR1):c.4294-4C>T
|
rs368108496
|
0.00018
|
NM_000540.3(RYR1):c.4911G>A (p.Ala1637=)
|
rs370350821
|
0.00018
|
NM_001035.3(RYR2):c.5294C>G (p.Ser1765Cys)
|
rs564806219
|
0.00018
|
NM_001048174.2(MUTYH):c.1102+9A>T
|
rs587780742
|
0.00018
|
NM_001065.4(TNFRSF1A):c.1206C>T (p.Ser402=)
|
rs148334665
|
0.00018
|
NM_001130987.2(DYSF):c.2257C>A (p.His753Asn)
|
rs202123283
|
0.00018
|
NM_001134363.3(RBM20):c.1816G>A (p.Val606Met)
|
rs727505067
|
0.00018
|
NM_001148.6(ANK2):c.9526G>T (p.Asp3176Tyr)
|
rs138928206
|
0.00018
|
NM_001164508.2(NEB):c.20896C>T (p.Arg6966Cys)
|
rs115623365
|
0.00018
|
NM_001182.5(ALDH7A1):c.528T>C (p.His176=)
|
rs757135576
|
0.00018
|
NM_001277115.2(DNAH11):c.2824C>A (p.Pro942Thr)
|
rs189569144
|
0.00018
|
NM_001277115.2(DNAH11):c.8145C>T (p.Asn2715=)
|
rs201592689
|
0.00018
|
NM_001352514.2(HLCS):c.2615G>A (p.Arg872Gln)
|
rs147474255
|
0.00018
|
NM_001375808.2(LPIN2):c.2327+10C>T
|
rs367921036
|
0.00018
|
NM_001384474.1(LOXHD1):c.6243T>C (p.Cys2081=)
|
rs199645176
|
0.00018
|
NM_001457.4(FLNB):c.2059G>A (p.Gly687Arg)
|
rs148679414
|
0.00018
|
NM_001457.4(FLNB):c.4414G>A (p.Val1472Met)
|
rs141098733
|
0.00018
|
NM_002234.4(KCNA5):c.251A>C (p.Glu84Ala)
|
rs377036305
|
0.00018
|
NM_002292.4(LAMB2):c.5109C>T (p.Arg1703=)
|
rs151292828
|
0.00018
|
NM_002506.3(NGF):c.165G>A (p.Pro55=)
|
rs149876217
|
0.00018
|
NM_003060.4(SLC22A5):c.1377A>G (p.Arg459=)
|
rs142264458
|
0.00018
|
NM_003560.4(PLA2G6):c.396C>T (p.Arg132=)
|
rs146252218
|
0.00018
|
NM_004304.5(ALK):c.4200A>C (p.Glu1400Asp)
|
rs143647372
|
0.00018
|
NM_004525.3(LRP2):c.8073C>T (p.His2691=)
|
rs146772976
|
0.00018
|
NM_006031.6(PCNT):c.6819G>A (p.Gly2273=)
|
rs200610141
|
0.00018
|
NM_012213.3(MLYCD):c.135C>T (p.Arg45=)
|
rs767969074
|
0.00018
|
NM_014141.6(CNTNAP2):c.2606T>C (p.Ile869Thr)
|
rs121908445
|
0.00018
|
NM_014141.6(CNTNAP2):c.3968A>C (p.Asp1323Ala)
|
rs142434274
|
0.00018
|
NM_014244.5(ADAMTS2):c.2817C>T (p.Ser939=)
|
rs201215425
|
0.00018
|
NM_017777.4(MKS1):c.491G>A (p.Arg164His)
|
rs200149256
|
0.00018
|
NM_021615.5(CHST6):c.656C>T (p.Ala219Val)
|
rs201743866
|
0.00018
|
NM_139343.3(BIN1):c.1143G>A (p.Pro381=)
|
rs372360787
|
0.00018
|
NM_152564.5(VPS13B):c.9369C>T (p.Cys3123=)
|
rs745668942
|
0.00018
|
NM_194318.4(B3GLCT):c.1104C>T (p.Ser368=)
|
rs114425388
|
0.00018
|
NM_198253.3(TERT):c.604G>A (p.Ala202Thr)
|
rs121918661
|
0.00018
|
NM_198904.4(GABRG2):c.1236C>T (p.Tyr412=)
|
rs749951528
|
0.00018
|
NM_000051.4(ATM):c.7381C>T (p.Arg2461Cys)
|
rs201314561
|
0.00017
|
NM_000059.4(BRCA2):c.10203G>A (p.Thr3401=)
|
rs147854265
|
0.00017
|
NM_000135.4(FANCA):c.874C>G (p.His292Asp)
|
rs200220791
|
0.00017
|
NM_000152.5(GAA):c.131G>T (p.Gly44Val)
|
rs550609502
|
0.00017
|
NM_000152.5(GAA):c.2561G>A (p.Arg854Gln)
|
rs149968110
|
0.00017
|
NM_000153.4(GALC):c.708C>T (p.Ser236=)
|
rs773666802
|
0.00017
|
NM_000243.3(MEFV):c.1245C>T (p.Val415=)
|
rs104895195
|
0.00017
|
NM_000282.4(PCCA):c.328G>C (p.Val110Leu)
|
rs150788587
|
0.00017
|
NM_000302.4(PLOD1):c.579+10A>G
|
rs538255620
|
0.00017
|
NM_000350.3(ABCA4):c.3607+13C>T
|
rs374630957
|
0.00017
|
NM_000426.4(LAMA2):c.8989-12C>G
|
rs144860334
|
0.00017
|
NM_000528.4(MAN2B1):c.2268-11C>T
|
rs537217370
|
0.00017
|
NM_000787.4(DBH):c.1840G>A (p.Gly614Arg)
|
rs76316834
|
0.00017
|
NM_000787.4(DBH):c.354C>T (p.Asp118=)
|
rs199898782
|
0.00017
|
NM_001008216.2(GALE):c.447C>G (p.Pro149=)
|
rs571625657
|
0.00017
|
NM_001032386.2(SUOX):c.574C>T (p.Arg192Trp)
|
rs139444405
|
0.00017
|
NM_001044385.3(TMEM237):c.183C>T (p.Pro61=)
|
rs372100073
|
0.00017
|
NM_001106.4(ACVR2B):c.1269G>A (p.Ser423=)
|
rs146067304
|
0.00017
|
NM_001128425.2(MUTYH):c.42C>T (p.Ile14=)
|
rs202240122
|
0.00017
|
NM_001277115.2(DNAH11):c.13162+12C>T
|
rs191638909
|
0.00017
|
NM_001375808.2(LPIN2):c.2328-13A>T
|
rs199830303
|
0.00017
|
NM_001377.3(DYNC2H1):c.12457-13T>C
|
rs537890566
|
0.00017
|
NM_001395413.1(POR):c.180-10T>C
|
rs374111607
|
0.00017
|
NM_001609.4(ACADSB):c.795C>T (p.Phe265=)
|
rs150619709
|
0.00017
|
NM_001844.5(COL2A1):c.2620C>T (p.Pro874Ser)
|
rs377198201
|
0.00017
|
NM_001875.5(CPS1):c.3057T>C (p.Thr1019=)
|
rs150601728
|
0.00017
|
NM_001943.5(DSG2):c.1851C>T (p.Leu617=)
|
rs202057770
|
0.00017
|
NM_002185.5(IL7R):c.602A>G (p.Tyr201Cys)
|
rs145810271
|
0.00017
|
NM_002474.3(MYH11):c.1212G>C (p.Gly404=)
|
rs201198815
|
0.00017
|
NM_002529.4(NTRK1):c.631G>A (p.Val211Met)
|
rs201192875
|
0.00017
|
NM_002618.4(PEX13):c.856G>A (p.Val286Ile)
|
rs201699810
|
0.00017
|
NM_002693.3(POLG):c.2021G>A (p.Gly674Asp)
|
rs200257554
|
0.00017
|
NM_002693.3(POLG):c.2028G>A (p.Ala676=)
|
rs373550219
|
0.00017
|
NM_003060.4(SLC22A5):c.852C>T (p.Leu284=)
|
rs146185976
|
0.00017
|
NM_003465.3(CHIT1):c.480+12C>T
|
rs201180236
|
0.00017
|
NM_003850.3(SUCLA2):c.272-13G>C
|
rs367890526
|
0.00017
|
NM_004076.5(CRYBB3):c.584G>A (p.Arg195His)
|
rs147937174
|
0.00017
|
NM_004100.5(EYA4):c.1617-11C>T
|
rs118166702
|
0.00017
|
NM_004278.4(PIGL):c.446G>C (p.Gly149Ala)
|
rs140211194
|
0.00017
|
NM_004320.6(ATP2A1):c.2310C>T (p.Gly770=)
|
rs7192781
|
0.00017
|
NM_005535.3(IL12RB1):c.735G>A (p.Val245=)
|
rs17878522
|
0.00017
|
NM_006348.5(COG5):c.1725G>A (p.Glu575=)
|
rs145128460
|
0.00017
|
NM_014244.5(ADAMTS2):c.3342C>T (p.Asn1114=)
|
rs79606317
|
0.00017
|
NM_014363.6(SACS):c.11928T>C (p.Ser3976=)
|
rs145680118
|
0.00017
|
NM_014363.6(SACS):c.3282C>T (p.Asn1094=)
|
rs145499245
|
0.00017
|
NM_022464.5(SIL1):c.699T>C (p.Asn233=)
|
rs140891877
|
0.00017
|
NM_024592.5(SRD5A3):c.43C>T (p.Leu15=)
|
rs376944136
|
0.00017
|
NM_052945.4(TNFRSF13C):c.375G>A (p.Glu125=)
|
rs371805226
|
0.00017
|
NM_133642.5(LARGE1):c.584G>A (p.Arg195His)
|
rs147597912
|
0.00017
|
NM_138694.4(PKHD1):c.1765C>T (p.Arg589Cys)
|
rs137972270
|
0.00017
|
NM_138694.4(PKHD1):c.7533A>G (p.Ser2511=)
|
rs200679577
|
0.00017
|
NM_138711.6(PPARG):c.391-3C>T
|
rs370830238
|
0.00017
|
NM_152564.5(VPS13B):c.1528C>T (p.Arg510Cys)
|
rs139141291
|
0.00017
|
NM_172250.3(MMAA):c.630A>G (p.Pro210=)
|
rs374347679
|
0.00017
|
NM_000017.4(ACADS):c.465C>T (p.Ser155=)
|
rs141492002
|
0.00016
|
NM_000037.4(ANK1):c.3282G>A (p.Thr1094=)
|
rs144821829
|
0.00016
|
NM_000037.4(ANK1):c.5376C>T (p.Thr1792=)
|
rs147232364
|
0.00016
|
NM_000053.4(ATP7B):c.445G>A (p.Val149Met)
|
rs200606656
|
0.00016
|
NM_000057.4(BLM):c.3751+10C>T
|
rs199685140
|
0.00016
|
NM_000070.3(CAPN3):c.1830C>T (p.Asn610=)
|
rs202019404
|
0.00016
|
NM_000080.4(CHRNE):c.797C>T (p.Ala266Val)
|
rs201463598
|
0.00016
|
NM_000081.4(LYST):c.6291C>T (p.Ala2097=)
|
rs199857997
|
0.00016
|
NM_000103.4(CYP19A1):c.721T>A (p.Tyr241Asn)
|
rs143562020
|
0.00016
|
NM_000130.5(F5):c.4972-14A>C
|
rs763080313
|
0.00016
|
NM_000130.5(F5):c.524A>G (p.His175Arg)
|
rs201510575
|
0.00016
|
NM_000130.5(F5):c.628C>A (p.Gln210Lys)
|
rs144937515
|
0.00016
|
NM_000135.4(FANCA):c.3348+7G>T
|
rs185527578
|
0.00016
|
NM_000135.4(FANCA):c.688G>A (p.Val230Ile)
|
rs144560850
|
0.00016
|
NM_000137.4(FAH):c.150T>C (p.Phe50=)
|
rs186471906
|
0.00016
|
NM_000137.4(FAH):c.741C>T (p.Leu247=)
|
rs145851627
|
0.00016
|
NM_000159.4(GCDH):c.627C>T (p.Thr209=)
|
rs143172809
|
0.00016
|
NM_000179.3(MSH6):c.3160A>T (p.Ile1054Phe)
|
rs267608075
|
0.00016
|
NM_000203.5(IDUA):c.1863A>C (p.Arg621=)
|
rs762586
|
0.00016
|
NM_000203.5(IDUA):c.365G>A (p.Arg122Lys)
|
rs200237798
|
0.00016
|
NM_000203.5(IDUA):c.663C>G (p.Pro221=)
|
rs368553582
|
0.00016
|
NM_000214.3(JAG1):c.2979C>T (p.Ser993=)
|
rs542976402
|
0.00016
|
NM_000222.3(KIT):c.1674G>A (p.Lys558=)
|
rs200375589
|
0.00016
|
NM_000249.4(MLH1):c.2101C>A (p.Gln701Lys)
|
rs63750114
|
0.00016
|
NM_000256.3(MYBPC3):c.1566G>A (p.Ala522=)
|
rs376041792
|
0.00016
|
NM_000257.4(MYH7):c.5718A>C (p.Ala1906=)
|
rs45523233
|
0.00016
|
NM_000260.4(MYO7A):c.5688G>A (p.Gln1896=)
|
rs570316231
|
0.00016
|
NM_000263.4(NAGLU):c.1662C>T (p.Pro554=)
|
rs368521316
|
0.00016
|
NM_000271.5(NPC1):c.233G>A (p.Arg78Gln)
|
rs373274825
|
0.00016
|
NM_000419.5(ITGA2B):c.1394-14C>T
|
rs368062044
|
0.00016
|
NM_000419.5(ITGA2B):c.2348+15G>A
|
rs200571001
|
0.00016
|
NM_000441.2(SLC26A4):c.1804-6G>A
|
rs377713770
|
0.00016
|
NM_000455.5(STK11):c.-461G>A
|
rs552610464
|
0.00016
|
NM_000466.3(PEX1):c.627G>A (p.Met209Ile)
|
rs200752969
|
0.00016
|
NM_000515.5(GH1):c.468T>C (p.Asp156=)
|
rs201849388
|
0.00016
|
NM_000521.4(HEXB):c.1667T>C (p.Met556Thr)
|
rs140627230
|
0.00016
|
NM_000527.5(LDLR):c.564C>T (p.Tyr188=)
|
rs121908034
|
0.00016
|
NM_000528.4(MAN2B1):c.2973G>A (p.Thr991=)
|
rs148945108
|
0.00016
|
NM_000540.3(RYR1):c.2319C>T (p.Asp773=)
|
rs374924686
|
0.00016
|
NM_000540.3(RYR1):c.4257C>T (p.Asn1419=)
|
rs36042816
|
0.00016
|
NM_000540.3(RYR1):c.6654C>T (p.Gly2218=)
|
rs149185729
|
0.00016
|
NM_000540.3(RYR1):c.8505A>T (p.Glu2835Asp)
|
rs144777676
|
0.00016
|
NM_000628.5(IL10RB):c.763G>A (p.Ala255Thr)
|
rs182875134
|
0.00016
|
NM_000642.3(AGL):c.4575T>A (p.Ile1525=)
|
rs372116308
|
0.00016
|
NM_000709.4(BCKDHA):c.420G>A (p.Thr140=)
|
rs143608852
|
0.00016
|
NM_000784.4(CYP27A1):c.1184+9G>T
|
rs200457116
|
0.00016
|
NM_001002755.4(NFU1):c.62+10G>A
|
rs773351968
|
0.00016
|
NM_001035.3(RYR2):c.10962A>C (p.Glu3654Asp)
|
rs547005691
|
0.00016
|
NM_001035.3(RYR2):c.2267G>A (p.Ser756Asn)
|
rs193922623
|
0.00016
|
NM_001035.3(RYR2):c.4445G>A (p.Arg1482His)
|
rs373024059
|
0.00016
|
NM_001035.3(RYR2):c.4652A>G (p.Asn1551Ser)
|
rs185237690
|
0.00016
|
NM_001040108.2(MLH3):c.713A>C (p.Tyr238Ser)
|
rs144707485
|
0.00016
|
NM_001126108.2(SLC12A3):c.2160C>T (p.Gly720=)
|
rs147984554
|
0.00016
|
NM_001130987.2(DYSF):c.225G>A (p.Thr75=)
|
rs200957354
|
0.00016
|
NM_001130987.2(DYSF):c.3852G>A (p.Pro1284=)
|
rs139983909
|
0.00016
|
NM_001134363.3(RBM20):c.2145C>T (p.Pro715=)
|
rs764304126
|
0.00016
|
NM_001142800.2(EYS):c.5883T>G (p.Thr1961=)
|
rs779530881
|
0.00016
|
NM_001164508.2(NEB):c.21797C>T (p.Pro7266Leu)
|
rs367626762
|
0.00016
|
NM_001164508.2(NEB):c.3444G>A (p.Ala1148=)
|
rs375569766
|
0.00016
|
NM_001164508.2(NEB):c.3879+8G>A
|
rs376511134
|
0.00016
|
NM_001164508.2(NEB):c.5420C>T (p.Ala1807Val)
|
rs373790988
|
0.00016
|
NM_001164508.2(NEB):c.7227+13T>G
|
rs373818296
|
0.00016
|
NM_001164508.2(NEB):c.8490G>A (p.Arg2830=)
|
rs368217121
|
0.00016
|
NM_001182.5(ALDH7A1):c.393+15T>C
|
rs183254966
|
0.00016
|
NM_001277115.2(DNAH11):c.13398C>T (p.Pro4466=)
|
rs72658836
|
0.00016
|
NM_001365536.1(SCN9A):c.1110G>A (p.Thr370=)
|
rs202002028
|
0.00016
|
NM_001369369.1(FOXN1):c.1886C>T (p.Thr629Met)
|
rs368962978
|
0.00016
|
NM_001376.5(DYNC1H1):c.8478A>G (p.Ala2826=)
|
rs117846737
|
0.00016
|
NM_001377.3(DYNC2H1):c.5313A>G (p.Val1771=)
|
rs144553338
|
0.00016
|
NM_001384474.1(LOXHD1):c.5985C>T (p.Asp1995=)
|
rs559560065
|
0.00016
|
NM_001844.5(COL2A1):c.1023+3G>A
|
rs374570848
|
0.00016
|
NM_002234.4(KCNA5):c.1672G>A (p.Gly558Arg)
|
rs201328038
|
0.00016
|
NM_002234.4(KCNA5):c.36T>C (p.Gly12=)
|
rs886049572
|
0.00016
|
NM_002241.5(KCNJ10):c.219G>A (p.Ala73=)
|
rs144495959
|
0.00016
|
NM_002292.4(LAMB2):c.1797C>T (p.Phe599=)
|
rs376785056
|
0.00016
|
NM_002386.4(MC1R):c.492C>T (p.Ala164=)
|
rs367985661
|
0.00016
|
NM_002474.3(MYH11):c.3291C>T (p.Ala1097=)
|
rs147605116
|
0.00016
|
NM_002474.3(MYH11):c.3309C>T (p.Ile1103=)
|
rs370854451
|
0.00016
|
NM_002474.3(MYH11):c.5094C>T (p.Ala1698=)
|
rs771742318
|
0.00016
|
NM_002633.3(PGM1):c.900T>C (p.His300=)
|
rs145807501
|
0.00016
|
NM_002778.4(PSAP):c.*376A>G
|
rs141906397
|
0.00016
|
NM_002778.4(PSAP):c.*737G>A
|
rs147046509
|
0.00016
|
NM_003060.4(SLC22A5):c.904A>G (p.Lys302Glu)
|
rs75783492
|
0.00016
|
NM_004525.3(LRP2):c.12687T>C (p.Gly4229=)
|
rs140195786
|
0.00016
|
NM_005271.5(GLUD1):c.1402+10G>A
|
rs202067232
|
0.00016
|
NM_005591.4(MRE11):c.1643T>C (p.Ile548Thr)
|
rs373522639
|
0.00016
|
NM_005609.4(PYGM):c.2290A>G (p.Asn764Asp)
|
rs190548494
|
0.00016
|
NM_005902.4(SMAD3):c.984G>A (p.Pro328=)
|
rs150994304
|
0.00016
|
NM_006031.6(PCNT):c.8401G>C (p.Val2801Leu)
|
rs138868039
|
0.00016
|
NM_006118.4(HAX1):c.593C>T (p.Pro198Leu)
|
rs146152769
|
0.00016
|
NM_006348.5(COG5):c.454T>C (p.Leu152=)
|
rs200107630
|
0.00016
|
NM_006371.5(CRTAP):c.654C>T (p.Asn218=)
|
rs144486582
|
0.00016
|
NM_006623.4(PHGDH):c.1257G>A (p.Gly419=)
|
rs374303746
|
0.00016
|
NM_006757.4(TNNT3):c.480+9C>T
|
rs374137056
|
0.00016
|
NM_006949.4(STXBP2):c.1027-10C>T
|
rs201961771
|
0.00016
|
NM_014141.6(CNTNAP2):c.3600G>A (p.Ser1200=)
|
rs117876038
|
0.00016
|
NM_014244.5(ADAMTS2):c.3449A>G (p.Asn1150Ser)
|
rs200982805
|
0.00016
|
NM_014363.6(SACS):c.12765G>A (p.Arg4255=)
|
rs139692779
|
0.00016
|
NM_014363.6(SACS):c.3752T>C (p.Ile1251Thr)
|
rs76872266
|
0.00016
|
NM_014363.6(SACS):c.4302A>G (p.Leu1434=)
|
rs34559250
|
0.00016
|
NM_014855.3(AP5Z1):c.1965G>A (p.Ser655=)
|
rs543467648
|
0.00016
|
NM_015272.5(RPGRIP1L):c.3616+7A>G
|
rs373003699
|
0.00016
|
NM_016219.5(MAN1B1):c.1312C>T (p.Leu438=)
|
rs150942110
|
0.00016
|
NM_016938.5(EFEMP2):c.885C>T (p.Ser295=)
|
rs142509316
|
0.00016
|
NM_017950.4(CCDC40):c.2227G>A (p.Glu743Lys)
|
rs201166295
|
0.00016
|
NM_018344.6(SLC29A3):c.987C>T (p.Asn329=)
|
rs147814367
|
0.00016
|
NM_021615.5(CHST6):c.301C>T (p.Leu101=)
|
rs373160858
|
0.00016
|
NM_022124.6(CDH23):c.2176+12C>T
|
rs371967419
|
0.00016
|
NM_022124.6(CDH23):c.9799C>T (p.Arg3267Cys)
|
rs201727938
|
0.00016
|
NM_025137.4(SPG11):c.2169C>T (p.Gly723=)
|
rs371338650
|
0.00016
|
NM_025137.4(SPG11):c.5315G>A (p.Arg1772His)
|
rs150823040
|
0.00016
|
NM_025216.3(WNT10A):c.1017C>T (p.Phe339=)
|
rs531326479
|
0.00016
|
NM_030777.4(SLC2A10):c.780C>T (p.Ser260=)
|
rs181500247
|
0.00016
|
NM_052813.5(CARD9):c.1260G>A (p.Thr420=)
|
rs142757984
|
0.00016
|
NM_053013.4(ENO3):c.249C>T (p.Ser83=)
|
rs145859308
|
0.00016
|
NM_053025.4(MYLK):c.4293G>A (p.Pro1431=)
|
rs370153686
|
0.00016
|
NM_054012.4(ASS1):c.174+4C>A
|
rs368133957
|
0.00016
|
NM_138694.4(PKHD1):c.2006G>A (p.Arg669His)
|
rs200497761
|
0.00016
|
NM_138694.4(PKHD1):c.2781A>G (p.Gln927=)
|
rs200511208
|
0.00016
|
NM_138694.4(PKHD1):c.3048T>C (p.Asn1016=)
|
rs138989655
|
0.00016
|
NM_138694.4(PKHD1):c.633G>A (p.Gly211=)
|
rs144025892
|
0.00016
|
NM_139343.3(BIN1):c.1003-13C>T
|
rs374490688
|
0.00016
|
NM_145200.5(CABP4):c.242C>T (p.Ala81Val)
|
rs148140510
|
0.00016
|
NM_152383.5(DIS3L2):c.2424G>A (p.Gln808=)
|
rs369113667
|
0.00016
|
NM_152564.5(VPS13B):c.11656G>A (p.Val3886Ile)
|
rs141793014
|
0.00016
|
NM_152564.5(VPS13B):c.3083-9C>T
|
rs376659281
|
0.00016
|
NM_152783.5(D2HGDH):c.768C>T (p.Ile256=)
|
rs377034676
|
0.00016
|
NM_182760.4(SUMF1):c.606G>A (p.Pro202=)
|
rs141957829
|
0.00016
|
NM_000026.4(ADSL):c.247C>T (p.Arg83Cys)
|
rs780425464
|
0.00015
|
NM_000026.4(ADSL):c.357+6C>T
|
rs181628906
|
0.00015
|
NM_000038.6(APC):c.6985A>G (p.Ile2329Val)
|
rs146048493
|
0.00015
|
NM_000092.5(COL4A4):c.2430C>G (p.Gly810=)
|
rs769363556
|
0.00015
|
NM_000094.4(COL7A1):c.59G>C (p.Arg20Pro)
|
rs755340663
|
0.00015
|
NM_000094.4(COL7A1):c.630C>T (p.Leu210=)
|
rs117857033
|
0.00015
|
NM_000135.4(FANCA):c.1413C>T (p.Val471=)
|
rs201561753
|
0.00015
|
NM_000138.5(FBN1):c.3423G>A (p.Pro1141=)
|
rs140396599
|
0.00015
|
NM_000138.5(FBN1):c.7056C>T (p.Ser2352=)
|
rs149697299
|
0.00015
|
NM_000152.5(GAA):c.1332T>C (p.Pro444=)
|
rs200007324
|
0.00015
|
NM_000181.4(GUSB):c.13T>C (p.Ser5Pro)
|
rs190496263
|
0.00015
|
NM_000211.5(ITGB2):c.228C>T (p.Asp76=)
|
rs368629638
|
0.00015
|
NM_000222.3(KIT):c.2484C>T (p.Asn828=)
|
rs141347955
|
0.00015
|
NM_000249.4(MLH1):c.1820T>A (p.Leu607His)
|
rs41295284
|
0.00015
|
NM_000264.5(PTCH1):c.2059G>A (p.Val687Met)
|
rs374691153
|
0.00015
|
NM_000271.5(NPC1):c.1948-11G>A
|
rs371122321
|
0.00015
|
NM_000271.5(NPC1):c.2501T>C (p.Met834Thr)
|
rs373435883
|
0.00015
|
NM_000302.4(PLOD1):c.897G>A (p.Pro299=)
|
rs199946373
|
0.00015
|
NM_000396.4(CTSK):c.169A>G (p.Ile57Val)
|
rs201446793
|
0.00015
|
NM_000492.4(CFTR):c.360G>A (p.Ala120=)
|
rs1800077
|
0.00015
|
NM_000540.3(RYR1):c.3924G>C (p.Pro1308=)
|
rs144350050
|
0.00015
|
NM_000601.6(HGF):c.471A>G (p.Pro157=)
|
rs142045938
|
0.00015
|
NM_001005242.3(PKP2):c.195C>T (p.Ala65=)
|
rs397517014
|
0.00015
|
NM_001042432.2(CLN3):c.677+8G>A
|
rs368568189
|
0.00015
|
NM_001042492.3(NF1):c.3436G>A (p.Val1146Ile)
|
rs201047812
|
0.00015
|
NM_001114753.3(ENG):c.321G>T (p.Leu107=)
|
rs767907933
|
0.00015
|
NM_001160372.4(TRAPPC9):c.3136C>T (p.Arg1046Trp)
|
rs376617920
|
0.00015
|
NM_001267550.2(TTN):c.92699A>G (p.Asn30900Ser)
|
rs186234393
|
0.00015
|
NM_001276345.2(TNNT2):c.692T>C (p.Ile231Thr)
|
rs45520032
|
0.00015
|
NM_001277115.2(DNAH11):c.9869C>G (p.Ser3290Cys)
|
rs201494403
|
0.00015
|
NM_001368067.1(LDB3):c.511G>A (p.Ala171Thr)
|
rs373632943
|
0.00015
|
NM_001376.5(DYNC1H1):c.2670G>T (p.Leu890=)
|
rs142961295
|
0.00015
|
NM_001377.3(DYNC2H1):c.6307T>A (p.Ser2103Thr)
|
rs201003494
|
0.00015
|
NM_001384474.1(LOXHD1):c.3951C>A (p.Val1317=)
|
rs779507390
|
0.00015
|
NM_001558.4(IL10RA):c.1283C>T (p.Pro428Leu)
|
rs752519410
|
0.00015
|
NM_001613.4(ACTA2):c.174C>T (p.Asp58=)
|
rs150547139
|
0.00015
|
NM_002474.3(MYH11):c.3766A>C (p.Lys1256Gln)
|
rs149241435
|
0.00015
|
NM_002693.3(POLG):c.1356T>C (p.Tyr452=)
|
rs3176179
|
0.00015
|
NM_003849.4(SUCLG1):c.395C>G (p.Ala132Gly)
|
rs376171433
|
0.00015
|
NM_004320.6(ATP2A1):c.1722G>A (p.Glu574=)
|
rs145043756
|
0.00015
|
NM_004453.4(ETFDH):c.972+13C>T
|
rs199589412
|
0.00015
|
NM_006005.3(WFS1):c.2667G>A (p.Ala889=)
|
rs71526454
|
0.00015
|
NM_014339.7(IL17RA):c.1046G>C (p.Gly349Ala)
|
rs143897670
|
0.00015
|
NM_014363.6(SACS):c.10298C>T (p.Thr3433Ile)
|
rs200991790
|
0.00015
|
NM_014363.6(SACS):c.3345C>T (p.Val1115=)
|
rs143287019
|
0.00015
|
NM_015627.3(LDLRAP1):c.375C>T (p.His125=)
|
rs146134293
|
0.00015
|
NM_018368.4(LMBRD1):c.384T>C (p.Asp128=)
|
rs143642515
|
0.00015
|
NM_024105.4(ALG12):c.55G>A (p.Ala19Thr)
|
rs138266806
|
0.00015
|
NM_024513.4(FYCO1):c.2037G>A (p.Ala679=)
|
rs373400491
|
0.00015
|
NM_024589.3(ROGDI):c.823-15C>T
|
rs372520122
|
0.00015
|
NM_030777.4(SLC2A10):c.1370C>T (p.Ala457Val)
|
rs201393026
|
0.00015
|
NM_138694.4(PKHD1):c.12110T>C (p.Leu4037Pro)
|
rs199900211
|
0.00015
|
NM_138694.4(PKHD1):c.658G>A (p.Asp220Asn)
|
rs199897497
|
0.00015
|
NM_138694.4(PKHD1):c.9262G>A (p.Asp3088Asn)
|
rs201066635
|
0.00015
|
NM_138711.6(PPARG):c.417G>A (p.Leu139=)
|
rs41415646
|
0.00015
|
NM_153717.3(EVC):c.105C>A (p.Gly35=)
|
rs745558003
|
0.00015
|
NM_198525.3(KIF7):c.952G>A (p.Ala318Thr)
|
rs756368261
|
0.00015
|
NM_000017.4(ACADS):c.825C>T (p.Ile275=)
|
rs200652158
|
0.00014
|
NM_000018.4(ACADVL):c.1227G>A (p.Thr409=)
|
rs778531268
|
0.00014
|
NM_000022.4(ADA):c.591T>A (p.His197Gln)
|
rs142456343
|
0.00014
|
NM_000037.4(ANK1):c.4341T>C (p.Ser1447=)
|
rs112677283
|
0.00014
|
NM_000037.4(ANK1):c.5601G>A (p.Ala1867=)
|
rs150975400
|
0.00014
|
NM_000051.4(ATM):c.4066A>G (p.Asn1356Asp)
|
rs147600485
|
0.00014
|
NM_000053.4(ATP7B):c.670A>T (p.Ile224Phe)
|
rs200563529
|
0.00014
|
NM_000081.4(LYST):c.7806A>G (p.Gln2602=)
|
rs372754364
|
0.00014
|
NM_000091.5(COL4A3):c.3751+7G>A
|
rs750554079
|
0.00014
|
NM_000130.5(F5):c.4333A>G (p.Thr1445Ala)
|
rs200204656
|
0.00014
|
NM_000138.5(FBN1):c.3936C>T (p.Ser1312=)
|
rs779913610
|
0.00014
|
NM_000147.5(FUCA1):c.405G>A (p.Thr135=)
|
rs145153173
|
0.00014
|
NM_000151.4(G6PC1):c.694G>A (p.Val232Ile)
|
rs145172999
|
0.00014
|
NM_000155.4(GALT):c.688-4C>T
|
rs374014228
|
0.00014
|
NM_000158.4(GBE1):c.45G>A (p.Glu15=)
|
rs370326965
|
0.00014
|
NM_000162.5(GCK):c.213C>T (p.Val71=)
|
rs143128547
|
0.00014
|
NM_000179.3(MSH6):c.884A>G (p.Lys295Arg)
|
rs267608051
|
0.00014
|
NM_000186.4(CFH):c.3004G>C (p.Gly1002Arg)
|
rs201816520
|
0.00014
|
NM_000211.5(ITGB2):c.159G>A (p.Gly53=)
|
rs200150384
|
0.00014
|
NM_000222.3(KIT):c.2234-3C>T
|
rs370131461
|
0.00014
|
NM_000233.4(LHCGR):c.54G>A (p.Gln18=)
|
rs780848944
|
0.00014
|
NM_000246.4(CIITA):c.1542G>A (p.Thr514=)
|
rs2228239
|
0.00014
|
NM_000302.4(PLOD1):c.1321C>T (p.Arg441Trp)
|
rs11553676
|
0.00014
|
NM_000303.3(PMM2):c.634A>G (p.Met212Val)
|
rs3743808
|
0.00014
|
NM_000343.4(SLC5A1):c.1809G>A (p.Arg603=)
|
rs200228396
|
0.00014
|
NM_000350.3(ABCA4):c.1614C>T (p.Ala538=)
|
rs201602424
|
0.00014
|
NM_000368.5(TSC1):c.2209-3T>C
|
rs368309229
|
0.00014
|
NM_000426.4(LAMA2):c.7395T>C (p.Asp2465=)
|
rs140483001
|
0.00014
|
NM_000433.4(NCF2):c.197G>A (p.Arg66Gln)
|
rs142803799
|
0.00014
|
NM_000465.4(BARD1):c.279A>G (p.Gln93=)
|
rs370000575
|
0.00014
|
NM_000466.3(PEX1):c.3250A>G (p.Met1084Val)
|
rs781277635
|
0.00014
|
NM_000481.4(AMT):c.858C>A (p.Gly286=)
|
rs367726589
|
0.00014
|
NM_000484.4(APP):c.1689T>C (p.Asp563=)
|
rs137865262
|
0.00014
|
NM_000492.4(CFTR):c.2559T>C (p.Ile853=)
|
rs1800104
|
0.00014
|
NM_000540.3(RYR1):c.2676C>T (p.Tyr892=)
|
rs375402078
|
0.00014
|
NM_000540.3(RYR1):c.8442G>A (p.Lys2814=)
|
rs771306571
|
0.00014
|
NM_000642.3(AGL):c.846+14G>A
|
rs376827010
|
0.00014
|
NM_000751.3(CHRND):c.1367A>G (p.Asn456Ser)
|
rs144433265
|
0.00014
|
NM_001005373.4(LRSAM1):c.894G>A (p.Thr298=)
|
rs771491533
|
0.00014
|
NM_001040716.2(PC):c.3341C>T (p.Ala1114Val)
|
rs148492494
|
0.00014
|
NM_001079866.2(BCS1L):c.822G>A (p.Pro274=)
|
rs112329020
|
0.00014
|
NM_001082971.2(DDC):c.366C>T (p.Leu122=)
|
rs377528325
|
0.00014
|
NM_001126108.2(SLC12A3):c.1968G>A (p.Pro656=)
|
rs150378634
|
0.00014
|
NM_001127644.2(GABRA1):c.-4C>T
|
rs375475234
|
0.00014
|
NM_001130987.2(DYSF):c.5276G>A (p.Arg1759His)
|
rs147678255
|
0.00014
|
NM_001134363.3(RBM20):c.1633G>A (p.Val545Ile)
|
rs397516596
|
0.00014
|
NM_001134363.3(RBM20):c.3512C>T (p.Thr1171Met)
|
rs371181124
|
0.00014
|
NM_001164508.2(NEB):c.21861G>A (p.Arg7287=)
|
rs372808358
|
0.00014
|
NM_001164508.2(NEB):c.22642A>G (p.Lys7548Glu)
|
rs201976154
|
0.00014
|
NM_001164508.2(NEB):c.7342C>T (p.Arg2448Cys)
|
rs576076237
|
0.00014
|
NM_001256545.2(MEGF10):c.2980+14A>G
|
rs370563737
|
0.00014
|
NM_001277115.2(DNAH11):c.3425+5C>G
|
rs776140118
|
0.00014
|
NM_001355436.2(SPTB):c.2250C>T (p.Gly750=)
|
rs200908449
|
0.00014
|
NM_001358530.2(MOCS1):c.758-9C>T
|
rs368402544
|
0.00014
|
NM_001365536.1(SCN9A):c.*2078C>T
|
rs548072061
|
0.00014
|
NM_001376.5(DYNC1H1):c.12102+6G>A
|
rs377669980
|
0.00014
|
NM_001378615.1(CC2D2A):c.1731G>A (p.Ser577=)
|
rs376746356
|
0.00014
|
NM_001457.4(FLNB):c.4590T>C (p.Tyr1530=)
|
rs141477764
|
0.00014
|
NM_001457.4(FLNB):c.864C>T (p.Asp288=)
|
rs141151998
|
0.00014
|
NM_001770.6(CD19):c.390T>A (p.Gly130=)
|
rs573154781
|
0.00014
|
NM_002225.5(IVD):c.879-5G>A
|
rs750569823
|
0.00014
|
NM_002474.3(MYH11):c.5160C>T (p.Ser1720=)
|
rs199564260
|
0.00014
|
NM_002474.3(MYH11):c.5247G>A (p.Gln1749=)
|
rs757501817
|
0.00014
|
NM_002474.3(MYH11):c.5516C>T (p.Ala1839Val)
|
rs112948385
|
0.00014
|
NM_002485.5(NBN):c.456G>A (p.Met152Ile)
|
rs201816949
|
0.00014
|
NM_003060.4(SLC22A5):c.1440C>T (p.Phe480=)
|
rs150457229
|
0.00014
|
NM_003331.5(TYK2):c.2102G>C (p.Arg701Thr)
|
rs200791116
|
0.00014
|
NM_003560.4(PLA2G6):c.2259C>T (p.Val753=)
|
rs749966284
|
0.00014
|
NM_003640.5(ELP1):c.208C>T (p.Arg70Cys)
|
rs3737311
|
0.00014
|
NM_003664.5(AP3B1):c.2345C>T (p.Ser782Phe)
|
rs143589037
|
0.00014
|
NM_003721.4(RFXANK):c.660C>T (p.Ala220=)
|
rs138423094
|
0.00014
|
NM_003850.3(SUCLA2):c.21C>T (p.Tyr7=)
|
rs374479008
|
0.00014
|
NM_003859.3(DPM1):c.759A>G (p.Leu253=)
|
rs769964944
|
0.00014
|
NM_004035.7(ACOX1):c.1695T>C (p.Tyr565=)
|
rs774049893
|
0.00014
|
NM_004181.5(UCHL1):c.457C>T (p.Arg153Trp)
|
rs139583787
|
0.00014
|
NM_004415.4(DSP):c.242G>A (p.Cys81Tyr)
|
rs140965835
|
0.00014
|
NM_004453.4(ETFDH):c.1518G>A (p.Glu506=)
|
rs146882697
|
0.00014
|
NM_005535.3(IL12RB1):c.1764C>T (p.Ser588=)
|
rs368969256
|
0.00014
|
NM_005546.4(ITK):c.1119A>G (p.Gln373=)
|
rs189091977
|
0.00014
|
NM_005787.6(ALG3):c.606-8C>T
|
rs368253820
|
0.00014
|
NM_006005.3(WFS1):c.1399C>T (p.Leu467=)
|
rs142700542
|
0.00014
|
NM_006206.6(PDGFRA):c.1135T>G (p.Leu379Val)
|
rs199827643
|
0.00014
|
NM_012203.2(GRHPR):c.336C>T (p.Ala112=)
|
rs148778319
|
0.00014
|
NM_014140.4(SMARCAL1):c.1413C>T (p.Ile471=)
|
rs149599324
|
0.00014
|
NM_014244.5(ADAMTS2):c.167G>A (p.Arg56His)
|
rs201167346
|
0.00014
|
NM_014714.4(IFT140):c.22C>G (p.Gln8Glu)
|
rs145267929
|
0.00014
|
NM_014855.3(AP5Z1):c.684C>T (p.Ser228=)
|
rs746349613
|
0.00014
|
NM_015272.5(RPGRIP1L):c.1704A>G (p.Gln568=)
|
rs141201084
|
0.00014
|
NM_015272.5(RPGRIP1L):c.530-15T>C
|
rs368728064
|
0.00014
|
NM_015915.5(ATL1):c.1152A>G (p.Pro384=)
|
rs377127492
|
0.00014
|
NM_017636.4(TRPM4):c.742C>T (p.Arg248Cys)
|
rs373749900
|
0.00014
|
NM_017668.3(NDE1):c.990G>A (p.Arg330=)
|
rs143588920
|
0.00014
|
NM_017739.4(POMGNT1):c.420G>A (p.Thr140=)
|
rs146237009
|
0.00014
|
NM_018344.6(SLC29A3):c.1347G>A (p.Thr449=)
|
rs373404056
|
0.00014
|
NM_020297.4(ABCC9):c.1332C>T (p.Gly444=)
|
rs369830406
|
0.00014
|
NM_020297.4(ABCC9):c.3316-4A>C
|
rs201147809
|
0.00014
|
NM_020533.3(MCOLN1):c.856C>A (p.His286Asn)
|
rs145191057
|
0.00014
|
NM_020975.6(RET):c.2988G>A (p.Pro996=)
|
rs145798106
|
0.00014
|
NM_022124.6(CDH23):c.7362+14G>A
|
rs78158757
|
0.00014
|
NM_022124.6(CDH23):c.8309-3C>T
|
rs371910002
|
0.00014
|
NM_022367.4(SEMA4A):c.90C>T (p.Thr30=)
|
rs373565051
|
0.00014
|
NM_024685.4(BBS10):c.372T>A (p.Ser124=)
|
rs143366878
|
0.00014
|
NM_025074.7(FRAS1):c.6286C>T (p.Arg2096Cys)
|
rs193229946
|
0.00014
|
NM_025137.4(SPG11):c.6877C>T (p.Arg2293Trp)
|
rs151317653
|
0.00014
|
NM_052845.4(MMAB):c.678T>C (p.Tyr226=)
|
rs111678627
|
0.00014
|
NM_052859.4(RFT1):c.136G>A (p.Val46Ile)
|
rs141174358
|
0.00014
|
NM_052989.3(IFT122):c.2577G>A (p.Glu859=)
|
rs201077232
|
0.00014
|
NM_053025.4(MYLK):c.2919G>A (p.Pro973=)
|
rs149482336
|
0.00014
|
NM_053025.4(MYLK):c.3438C>T (p.Leu1146=)
|
rs146320279
|
0.00014
|
NM_053025.4(MYLK):c.3915C>T (p.Cys1305=)
|
rs371602931
|
0.00014
|
NM_054012.4(ASS1):c.1165A>G (p.Thr389Ala)
|
rs145288815
|
0.00014
|
NM_054012.4(ASS1):c.858A>T (p.Ala286=)
|
rs201905628
|
0.00014
|
NM_080680.3(COL11A2):c.3654A>G (p.Ser1218=)
|
rs146962984
|
0.00014
|
NM_133433.4(NIPBL):c.2448T>C (p.Arg816=)
|
rs139177541
|
0.00014
|
NM_138694.4(PKHD1):c.1848A>T (p.Ala616=)
|
rs776570716
|
0.00014
|
NM_138959.3(VANGL1):c.231G>A (p.Thr77=)
|
rs186509771
|
0.00014
|
NM_139343.3(BIN1):c.1003-11C>G
|
rs759676621
|
0.00014
|
NM_139343.3(BIN1):c.681G>A (p.Leu227=)
|
rs199658397
|
0.00014
|
NM_152564.5(VPS13B):c.1843+10T>C
|
rs371154826
|
0.00014
|
NM_152564.5(VPS13B):c.2333+12A>T
|
rs373498932
|
0.00014
|
NM_152564.5(VPS13B):c.3083-8G>A
|
rs201973611
|
0.00014
|
NM_152564.5(VPS13B):c.4746-7T>C
|
rs201136777
|
0.00014
|
NM_152564.5(VPS13B):c.5223C>A (p.Ile1741=)
|
rs144223843
|
0.00014
|
NM_152783.5(D2HGDH):c.1515G>A (p.Leu505=)
|
rs376268002
|
0.00014
|
NM_153603.4(COG7):c.1972G>A (p.Ala658Thr)
|
rs115073082
|
0.00014
|
NM_153603.4(COG7):c.904G>A (p.Val302Met)
|
rs116314856
|
0.00014
|
NM_198904.4(GABRG2):c.243T>A (p.Leu81=)
|
rs143295869
|
0.00014
|
NM_201525.4(ADGRG1):c.1188C>T (p.Asp396=)
|
rs368883473
|
0.00014
|
NM_201525.4(ADGRG1):c.1287-6G>A
|
rs112805221
|
0.00014
|
NM_000037.4(ANK1):c.2982G>A (p.Pro994=)
|
rs139623406
|
0.00013
|
NM_000046.5(ARSB):c.1533C>T (p.Pro511=)
|
rs528157833
|
0.00013
|
NM_000048.4(ASL):c.1056G>A (p.Thr352=)
|
rs745476328
|
0.00013
|
NM_000051.4(ATM):c.8671+9T>G
|
rs200190537
|
0.00013
|
NM_000053.4(ATP7B):c.1426G>A (p.Ala476Thr)
|
rs139289704
|
0.00013
|
NM_000053.4(ATP7B):c.1544-12T>C
|
rs201167060
|
0.00013
|
NM_000057.4(BLM):c.3828G>A (p.Ala1276=)
|
rs369383272
|
0.00013
|
NM_000057.4(BLM):c.4113G>A (p.Thr1371=)
|
rs61754135
|
0.00013
|
NM_000070.3(CAPN3):c.1800+12G>A
|
rs542523863
|
0.00013
|
NM_000094.4(COL7A1):c.2277C>T (p.Gly759=)
|
rs144756110
|
0.00013
|
NM_000096.4(CP):c.93G>A (p.Thr31=)
|
rs201521886
|
0.00013
|
NM_000130.5(F5):c.4347G>A (p.Pro1449=)
|
rs145732153
|
0.00013
|
NM_000135.4(FANCA):c.3637C>G (p.Pro1213Ala)
|
rs200713354
|
0.00013
|
NM_000179.3(MSH6):c.59C>T (p.Ala20Val)
|
rs63750664
|
0.00013
|
NM_000187.4(HGD):c.1176C>T (p.Ala392=)
|
rs368805723
|
0.00013
|
NM_000198.4(HSD3B2):c.308-8G>A
|
rs371712928
|
0.00013
|
NM_000211.5(ITGB2):c.714C>T (p.Asp238=)
|
rs752901414
|
0.00013
|
NM_000237.3(LPL):c.528C>G (p.Val176=)
|
rs199606532
|
0.00013
|
NM_000246.4(CIITA):c.3003C>T (p.Asp1001=)
|
rs143497260
|
0.00013
|
NM_000274.4(OAT):c.1160-13T>A
|
rs372850085
|
0.00013
|
NM_000274.4(OAT):c.736C>T (p.Leu246=)
|
rs146882296
|
0.00013
|
NM_000293.3(PHKB):c.2197-10A>T
|
rs750018974
|
0.00013
|
NM_000350.3(ABCA4):c.741C>T (p.Asn247=)
|
rs372976742
|
0.00013
|
NM_000387.6(SLC25A20):c.535+6C>T
|
rs199770033
|
0.00013
|
NM_000426.4(LAMA2):c.3429C>A (p.Ile1143=)
|
rs200646230
|
0.00013
|
NM_000426.4(LAMA2):c.8298C>T (p.Phe2766=)
|
rs145295628
|
0.00013
|
NM_000540.3(RYR1):c.14270G>A (p.Arg4757His)
|
rs768360593
|
0.00013
|
NM_000540.3(RYR1):c.2654G>A (p.Arg885His)
|
rs370634440
|
0.00013
|
NM_000540.3(RYR1):c.8079G>A (p.Pro2693=)
|
rs368063600
|
0.00013
|
NM_000540.3(RYR1):c.9152G>A (p.Arg3051His)
|
rs147303895
|
0.00013
|
NM_001035.3(RYR2):c.3153C>T (p.Arg1051=)
|
rs397516524
|
0.00013
|
NM_001035.3(RYR2):c.5373C>A (p.Thr1791=)
|
rs765283048
|
0.00013
|
NM_001035.3(RYR2):c.9963G>A (p.Pro3321=)
|
rs199730192
|
0.00013
|
NM_001042492.3(NF1):c.7026G>A (p.Leu2342=)
|
rs371581213
|
0.00013
|
NM_001130823.3(DNMT1):c.2667C>T (p.Tyr889=)
|
rs199832007
|
0.00013
|
NM_001130987.2(DYSF):c.3541G>A (p.Asp1181Asn)
|
rs139194093
|
0.00013
|
NM_001130987.2(DYSF):c.5785-8C>T
|
rs201191038
|
0.00013
|
NM_001164508.2(NEB):c.1119G>A (p.Arg373=)
|
rs200914626
|
0.00013
|
NM_001355436.2(SPTB):c.5943C>T (p.Arg1981=)
|
rs75000411
|
0.00013
|
NM_001365088.1(SLC12A6):c.2565G>A (p.Thr855=)
|
rs201062811
|
0.00013
|
NM_001369369.1(FOXN1):c.497C>T (p.Ala166Val)
|
rs367793349
|
0.00013
|
NM_001371596.2(MFSD8):c.206C>T (p.Pro69Leu)
|
rs147750747
|
0.00013
|
NM_001384474.1(LOXHD1):c.5584C>T (p.Arg1862Trp)
|
rs201994383
|
0.00013
|
NM_001457.4(FLNB):c.1748-5C>G
|
rs369919081
|
0.00013
|
NM_001457.4(FLNB):c.4873G>A (p.Ala1625Thr)
|
rs200727113
|
0.00013
|
NM_001457.4(FLNB):c.6028C>T (p.Arg2010Cys)
|
rs138034708
|
0.00013
|
NM_001457.4(FLNB):c.7641C>T (p.Ile2547=)
|
rs139582437
|
0.00013
|
NM_001943.5(DSG2):c.45+9C>G
|
rs376573409
|
0.00013
|
NM_001999.4(FBN2):c.2252A>C (p.Glu751Ala)
|
rs147610681
|
0.00013
|
NM_002234.4(KCNA5):c.1329C>T (p.Ile443=)
|
rs147209278
|
0.00013
|
NM_002529.4(NTRK1):c.570C>G (p.Ser190Arg)
|
rs138608619
|
0.00013
|
NM_002778.4(PSAP):c.557G>A (p.Arg186His)
|
rs138880818
|
0.00013
|
NM_003227.4(TFR2):c.1863C>T (p.Ala621=)
|
rs374489702
|
0.00013
|
NM_003982.4(SLC7A7):c.339A>C (p.Gly113=)
|
rs139270936
|
0.00013
|
NM_004239.4(TRIP11):c.2357A>C (p.Asp786Ala)
|
rs201394520
|
0.00013
|
NM_004273.5(CHST3):c.570C>T (p.Asp190=)
|
rs367857089
|
0.00013
|
NM_004304.5(ALK):c.3173-11C>T
|
rs79339096
|
0.00013
|
NM_004415.4(DSP):c.1575-15C>G
|
rs369184165
|
0.00013
|
NM_004415.4(DSP):c.3562T>C (p.Tyr1188His)
|
rs141508330
|
0.00013
|
NM_005912.2(MC4R):c.110A>T (p.Asp37Val)
|
rs13447325
|
0.00013
|
NM_006348.5(COG5):c.1686+7A>G
|
rs373280339
|
0.00013
|
NM_007194.4(CHEK2):c.7C>T (p.Arg3Trp)
|
rs199708878
|
0.00013
|
NM_014141.6(CNTNAP2):c.1777+7G>A
|
rs770951811
|
0.00013
|
NM_014141.6(CNTNAP2):c.209-11C>T
|
rs369056998
|
0.00013
|
NM_014141.6(CNTNAP2):c.939+14C>T
|
rs370916766
|
0.00013
|
NM_014339.7(IL17RA):c.847-14C>G
|
rs201410617
|
0.00013
|
NM_014714.4(IFT140):c.3147C>T (p.Asn1049=)
|
rs150129370
|
0.00013
|
NM_014908.4(DOLK):c.633C>T (p.Arg211=)
|
rs147647278
|
0.00013
|
NM_015192.4(PLCB1):c.2088C>T (p.Tyr696=)
|
rs189186909
|
0.00013
|
NM_015192.4(PLCB1):c.724G>A (p.Val242Ile)
|
rs200567140
|
0.00013
|
NM_015506.3(MMACHC):c.799C>T (p.Arg267Trp)
|
rs34258482
|
0.00013
|
NM_015702.3(MMADHC):c.-60G>A
|
rs886054923
|
0.00013
|
NM_016219.5(MAN1B1):c.1950C>T (p.Pro650=)
|
rs377461918
|
0.00013
|
NM_016247.4(IMPG2):c.335-16_335-15del
|
rs756480190
|
0.00013
|
NM_018389.5(SLC35C1):c.747C>T (p.Leu249=)
|
rs567642788
|
0.00013
|
NM_018714.3(COG1):c.560+15C>T
|
rs201364732
|
0.00013
|
NM_020533.3(MCOLN1):c.216G>A (p.Lys72=)
|
rs369176493
|
0.00013
|
NM_021922.3(FANCE):c.274C>T (p.Arg92Trp)
|
rs375195621
|
0.00013
|
NM_021957.4(GYS2):c.1890+12A>G
|
rs192853475
|
0.00013
|
NM_022124.6(CDH23):c.1803C>G (p.Val601=)
|
rs201024982
|
0.00013
|
NM_022367.4(SEMA4A):c.1694-13C>G
|
rs144540956
|
0.00013
|
NM_024422.6(DSC2):c.1788G>A (p.Ala596=)
|
rs146161960
|
0.00013
|
NM_024577.4(SH3TC2):c.3049G>A (p.Ala1017Thr)
|
rs186029710
|
0.00013
|
NM_024577.4(SH3TC2):c.31C>T (p.Arg11Trp)
|
rs149762843
|
0.00013
|
NM_025137.4(SPG11):c.2245-13A>G
|
rs200426807
|
0.00013
|
NM_032382.5(COG8):c.525G>A (p.Leu175=)
|
rs187905134
|
0.00013
|
NM_032581.4(HYCC1):c.1515A>G (p.Gln505=)
|
rs373948210
|
0.00013
|
NM_032634.4(PIGO):c.3070-12C>G
|
rs199864376
|
0.00013
|
NM_033159.4(HYAL1):c.168C>T (p.Phe56=)
|
rs369935445
|
0.00013
|
NM_080680.3(COL11A2):c.3932A>G (p.Asn1311Ser)
|
rs727504460
|
0.00013
|
NM_133459.4(CCBE1):c.843A>T (p.Pro281=)
|
rs191592668
|
0.00013
|
NM_144599.5(NIPA1):c.753G>C (p.Ala251=)
|
rs199718530
|
0.00013
|
NM_152564.5(VPS13B):c.3017C>G (p.Ala1006Gly)
|
rs201566948
|
0.00013
|
NM_152564.5(VPS13B):c.365C>T (p.Pro122Leu)
|
rs201723380
|
0.00013
|
NM_170707.4(LMNA):c.1488+14C>T
|
rs377700689
|
0.00013
|
NM_198525.3(KIF7):c.1922+13C>T
|
rs376321790
|
0.00013
|
NM_198586.3(NHLRC1):c.513C>T (p.Ala171=)
|
rs148907696
|
0.00013
|
NM_199242.3(UNC13D):c.2180G>A (p.Arg727Gln)
|
rs747390615
|
0.00013
|
NM_213599.3(ANO5):c.2256G>A (p.Thr752=)
|
rs144048656
|
0.00013
|
NM_000038.6(APC):c.450A>G (p.Lys150=)
|
rs116020626
|
0.00012
|
NM_000038.6(APC):c.5801C>T (p.Pro1934Leu)
|
rs587780600
|
0.00012
|
NM_000038.6(APC):c.6873A>T (p.Gln2291His)
|
rs148878262
|
0.00012
|
NM_000053.4(ATP7B):c.3402C>T (p.Pro1134=)
|
rs145887771
|
0.00012
|
NM_000059.4(BRCA2):c.1889C>T (p.Thr630Ile)
|
rs80358479
|
0.00012
|
NM_000070.3(CAPN3):c.552G>A (p.Thr184=)
|
rs147808529
|
0.00012
|
NM_000137.4(FAH):c.864C>T (p.Cys288=)
|
rs370273424
|
0.00012
|
NM_000154.2(GALK1):c.1044C>T (p.Phe348=)
|
rs372653001
|
0.00012
|
NM_000199.5(SGSH):c.534C>T (p.His178=)
|
rs139484283
|
0.00012
|
NM_000215.4(JAK3):c.896T>C (p.Val299Ala)
|
rs571404212
|
0.00012
|
NM_000232.5(SGCB):c.799C>T (p.Arg267Cys)
|
rs200761715
|
0.00012
|
NM_000256.3(MYBPC3):c.531C>T (p.Arg177=)
|
rs368035400
|
0.00012
|
NM_000294.3(PHKG2):c.1051G>A (p.Asp351Asn)
|
rs151033581
|
0.00012
|
NM_000302.4(PLOD1):c.1182G>C (p.Arg394=)
|
rs144439284
|
0.00012
|
NM_000341.4(SLC3A1):c.417C>T (p.Asn139=)
|
rs150870922
|
0.00012
|
NM_000350.3(ABCA4):c.5076C>T (p.Phe1692=)
|
rs148351929
|
0.00012
|
NM_000359.3(TGM1):c.885C>T (p.His295=)
|
rs186352813
|
0.00012
|
NM_000426.4(LAMA2):c.4993G>A (p.Gly1665Arg)
|
rs373997222
|
0.00012
|
NM_000429.3(MAT1A):c.981G>A (p.Pro327=)
|
rs149163315
|
0.00012
|
NM_000465.4(BARD1):c.1152C>T (p.Ser384=)
|
rs368291318
|
0.00012
|
NM_000481.4(AMT):c.961G>A (p.Val321Met)
|
rs149457059
|
0.00012
|
NM_000501.4(ELN):c.710G>C (p.Gly237Ala)
|
rs934014841
|
0.00012
|
NM_000784.4(CYP27A1):c.578G>A (p.Arg193Gln)
|
rs181649030
|
0.00012
|
NM_001042492.3(NF1):c.5049C>T (p.Asn1683=)
|
rs140994965
|
0.00012
|
NM_001080476.3(GRXCR1):c.825G>A (p.Thr275=)
|
rs370629848
|
0.00012
|
NM_001122769.3(LCA5):c.1260G>A (p.Lys420=)
|
rs141642284
|
0.00012
|
NM_001130987.2(DYSF):c.1481G>A (p.Arg494His)
|
rs199879861
|
0.00012
|
NM_001130987.2(DYSF):c.2593C>T (p.Arg865Trp)
|
rs200487610
|
0.00012
|
NM_001130987.2(DYSF):c.5094C>T (p.Ile1698=)
|
rs149087116
|
0.00012
|
NM_001145809.2(MYH14):c.3819C>T (p.Ala1273=)
|
rs750779364
|
0.00012
|
NM_001164508.2(NEB):c.16984G>A (p.Ala5662Thr)
|
rs375294508
|
0.00012
|
NM_001164508.2(NEB):c.18800T>C (p.Leu6267Pro)
|
rs184723737
|
0.00012
|
NM_001164508.2(NEB):c.2823G>A (p.Ala941=)
|
rs376849181
|
0.00012
|
NM_001164508.2(NEB):c.293C>T (p.Pro98Leu)
|
rs201473194
|
0.00012
|
NM_001164508.2(NEB):c.6624G>A (p.Pro2208=)
|
rs373278622
|
0.00012
|
NM_001358530.2(MOCS1):c.1413C>T (p.Ala471=)
|
rs745789021
|
0.00012
|
NM_001370259.2(MEN1):c.1618C>T (p.Pro540Ser)
|
rs745404679
|
0.00012
|
NM_001375808.2(LPIN2):c.2535A>C (p.Gly845=)
|
rs186864136
|
0.00012
|
NM_001377.3(DYNC2H1):c.5177G>A (p.Arg1726Gln)
|
rs564701277
|
0.00012
|
NM_001377.3(DYNC2H1):c.9231+12G>A
|
rs369045696
|
0.00012
|
NM_001457.4(FLNB):c.1640C>T (p.Ala547Val)
|
rs200619215
|
0.00012
|
NM_001844.5(COL2A1):c.550G>A (p.Ala184Thr)
|
rs201817670
|
0.00012
|
NM_001999.4(FBN2):c.2625T>C (p.Cys875=)
|
rs371502563
|
0.00012
|
NM_001999.4(FBN2):c.2990-14C>T
|
rs377500777
|
0.00012
|
NM_002185.5(IL7R):c.760G>A (p.Ala254Thr)
|
rs137868226
|
0.00012
|
NM_002292.4(LAMB2):c.1206G>A (p.Arg402=)
|
rs201999373
|
0.00012
|
NM_002292.4(LAMB2):c.5286T>C (p.Asn1762=)
|
rs781092208
|
0.00012
|
NM_002880.4(RAF1):c.1721A>G (p.Tyr574Cys)
|
rs370242565
|
0.00012
|
NM_003240.5(LEFTY2):c.738-9C>T
|
rs576554454
|
0.00012
|
NM_003742.4(ABCB11):c.2036C>T (p.Ala679Val)
|
rs200912109
|
0.00012
|
NM_004415.4(DSP):c.7125G>A (p.Gly2375=)
|
rs141709096
|
0.00012
|
NM_004525.3(LRP2):c.12756C>T (p.Asp4252=)
|
rs201793817
|
0.00012
|
NM_006005.3(WFS1):c.728C>T (p.Ala243Val)
|
rs147147660
|
0.00012
|
NM_006623.4(PHGDH):c.390C>T (p.Asp130=)
|
rs148078511
|
0.00012
|
NM_006623.4(PHGDH):c.644-12G>A
|
rs370255821
|
0.00012
|
NM_006790.3(MYOT):c.1286C>G (p.Ala429Gly)
|
rs144731446
|
0.00012
|
NM_007194.4(CHEK2):c.410G>A (p.Arg137Gln)
|
rs368570187
|
0.00012
|
NM_012144.4(DNAI1):c.1929C>A (p.Ile643=)
|
rs146434058
|
0.00012
|
NM_013435.3(RAX):c.612G>A (p.Leu204=)
|
rs753579122
|
0.00012
|
NM_014000.3(VCL):c.2796T>C (p.Asp932=)
|
rs140308982
|
0.00012
|
NM_014244.5(ADAMTS2):c.1815C>T (p.Tyr605=)
|
rs369654932
|
0.00012
|
NM_014244.5(ADAMTS2):c.2994G>T (p.Arg998=)
|
rs780314895
|
0.00012
|
NM_014252.4(SLC25A15):c.706A>G (p.Arg236Gly)
|
rs142236568
|
0.00012
|
NM_014339.7(IL17RA):c.561C>T (p.His187=)
|
rs371342533
|
0.00012
|
NM_014363.6(SACS):c.1081A>G (p.Lys361Glu)
|
rs377027736
|
0.00012
|
NM_014714.4(IFT140):c.2768+12C>T
|
rs756491638
|
0.00012
|
NM_014908.4(DOLK):c.1446G>A (p.Ala482=)
|
rs201027607
|
0.00012
|
NM_015192.4(PLCB1):c.1761A>G (p.Val587=)
|
rs143755415
|
0.00012
|
NM_016219.5(MAN1B1):c.768C>T (p.Val256=)
|
rs145906530
|
0.00012
|
NM_017739.4(POMGNT1):c.960C>G (p.Arg320=)
|
rs146933218
|
0.00012
|
NM_018714.3(COG1):c.1230G>A (p.Pro410=)
|
rs148502827
|
0.00012
|
NM_018714.3(COG1):c.384G>A (p.Pro128=)
|
rs142827255
|
0.00012
|
NM_019892.6(INPP5E):c.1136G>A (p.Arg379Lys)
|
rs200518324
|
0.00012
|
NM_021957.4(GYS2):c.630G>A (p.Gly210=)
|
rs201503558
|
0.00012
|
NM_022098.4(XPNPEP3):c.718A>T (p.Ile240Leu)
|
rs137859412
|
0.00012
|
NM_022124.6(CDH23):c.2235C>T (p.Ile745=)
|
rs368841307
|
0.00012
|
NM_024312.5(GNPTAB):c.2028G>A (p.Pro676=)
|
rs192607073
|
0.00012
|
NM_032409.3(PINK1):c.1251+10G>A
|
rs192131551
|
0.00012
|
NM_033159.4(HYAL1):c.1041C>T (p.Phe347=)
|
rs377105091
|
0.00012
|
NM_053025.4(MYLK):c.4336G>A (p.Glu1446Lys)
|
rs146682969
|
0.00012
|
NM_138694.4(PKHD1):c.3804C>T (p.Ala1268=)
|
rs201769990
|
0.00012
|
NM_138694.4(PKHD1):c.5829C>T (p.Gly1943=)
|
rs376709130
|
0.00012
|
NM_138694.4(PKHD1):c.5910G>A (p.Gly1970=)
|
rs200730851
|
0.00012
|
NM_152564.5(VPS13B):c.2470T>G (p.Ser824Ala)
|
rs149866274
|
0.00012
|
NM_198578.4(LRRK2):c.177T>A (p.Asn59Lys)
|
rs150422099
|
0.00012
|
NM_000018.4(ACADVL):c.1239A>G (p.Ile413Met)
|
rs143172658
|
0.00011
|
NM_000030.3(AGXT):c.1111G>A (p.Glu371Lys)
|
rs369664123
|
0.00011
|
NM_000030.3(AGXT):c.885G>A (p.Ala295=)
|
rs377132245
|
0.00011
|
NM_000037.4(ANK1):c.3234C>T (p.Pro1078=)
|
rs755219802
|
0.00011
|
NM_000037.4(ANK1):c.3288G>A (p.Pro1096=)
|
rs140964621
|
0.00011
|
NM_000037.4(ANK1):c.3984+12C>T
|
rs200019819
|
0.00011
|
NM_000051.4(ATM):c.5890A>G (p.Lys1964Glu)
|
rs201963507
|
0.00011
|
NM_000053.4(ATP7B):c.3396C>T (p.Ser1132=)
|
rs370947152
|
0.00011
|
NM_000059.4(BRCA2):c.6317T>C (p.Leu2106Pro)
|
rs56172926
|
0.00011
|
NM_000079.4(CHRNA1):c.1002+9G>A
|
rs368959759
|
0.00011
|
NM_000098.3(CPT2):c.45G>T (p.Ala15=)
|
rs761850684
|
0.00011
|
NM_000110.4(DPYD):c.2303C>A (p.Thr768Lys)
|
rs56005131
|
0.00011
|
NM_000138.5(FBN1):c.1821T>C (p.Asp607=)
|
rs149133920
|
0.00011
|
NM_000138.5(FBN1):c.7560G>A (p.Thr2520=)
|
rs760425899
|
0.00011
|
NM_000141.5(FGFR2):c.625-10A>G
|
rs201512833
|
0.00011
|
NM_000141.5(FGFR2):c.989G>A (p.Arg330Gln)
|
rs199757302
|
0.00011
|
NM_000155.4(GALT):c.378-12G>A
|
rs151309174
|
0.00011
|
NM_000162.5(GCK):c.363+9C>T
|
rs200985182
|
0.00011
|
NM_000169.3(GLA):c.48T>G (p.Leu16=)
|
rs201449986
|
0.00011
|
NM_000170.3(GLDC):c.1926+6T>C
|
rs200007891
|
0.00011
|
NM_000170.3(GLDC):c.2149A>G (p.Ile717Val)
|
rs117460214
|
0.00011
|
NM_000179.3(MSH6):c.628-7C>A
|
rs373129248
|
0.00011
|
NM_000187.4(HGD):c.141G>A (p.Ser47=)
|
rs541268108
|
0.00011
|
NM_000198.4(HSD3B2):c.423C>T (p.His141=)
|
rs751470493
|
0.00011
|
NM_000203.5(IDUA):c.76G>A (p.Ala26Thr)
|
rs746809894
|
0.00011
|
NM_000211.5(ITGB2):c.537C>T (p.Phe179=)
|
rs371548080
|
0.00011
|
NM_000215.4(JAK3):c.119G>A (p.Arg40His)
|
rs56384680
|
0.00011
|
NM_000215.4(JAK3):c.649G>A (p.Val217Met)
|
rs202167678
|
0.00011
|
NM_000218.3(KCNQ1):c.*266G>A
|
rs113029000
|
0.00011
|
NM_000222.3(KIT):c.978C>T (p.Asn326=)
|
rs148594615
|
0.00011
|
NM_000230.3(LEP):c.21C>T (p.Cys7=)
|
rs201523305
|
0.00011
|
NM_000238.4(KCNH2):c.1641G>A (p.Ala547=)
|
rs149902084
|
0.00011
|
NM_000243.3(MEFV):c.1341G>C (p.Lys447Asn)
|
rs756322372
|
0.00011
|
NM_000246.4(CIITA):c.2405G>A (p.Arg802Gln)
|
rs201182990
|
0.00011
|
NM_000251.3(MSH2):c.198C>T (p.Tyr66=)
|
rs730881784
|
0.00011
|
NM_000260.4(MYO7A):c.1358G>A (p.Cys453Tyr)
|
rs202080237
|
0.00011
|
NM_000260.4(MYO7A):c.3297C>T (p.Pro1099=)
|
rs367668576
|
0.00011
|
NM_000271.5(NPC1):c.1431G>A (p.Thr477=)
|
rs375307057
|
0.00011
|
NM_000274.4(OAT):c.478G>A (p.Val160Met)
|
rs148433929
|
0.00011
|
NM_000275.3(OCA2):c.1785-7C>G
|
rs375281082
|
0.00011
|
NM_000286.3(PEX12):c.1002G>A (p.Arg334=)
|
rs200283718
|
0.00011
|
NM_000289.6(PFKM):c.2121G>A (p.Ser707=)
|
rs370046842
|
0.00011
|
NM_000289.6(PFKM):c.638+15C>A
|
rs376150217
|
0.00011
|
NM_000290.4(PGAM2):c.480T>C (p.Ile160=)
|
rs780650903
|
0.00011
|
NM_000295.5(SERPINA1):c.1069G>A (p.Val357Met)
|
rs373630097
|
0.00011
|
NM_000295.5(SERPINA1):c.1206T>C (p.Asn402=)
|
rs766128806
|
0.00011
|
NM_000335.5(SCN5A):c.5364C>T (p.Asp1788=)
|
rs375752426
|
0.00011
|
NM_000341.4(SLC3A1):c.1973G>A (p.Arg658His)
|
rs370262167
|
0.00011
|
NM_000360.4(TH):c.1383G>A (p.Pro461=)
|
rs552808212
|
0.00011
|
NM_000426.4(LAMA2):c.3004G>A (p.Gly1002Ser)
|
rs200953311
|
0.00011
|
NM_000426.4(LAMA2):c.3597T>C (p.Asp1199=)
|
rs199904029
|
0.00011
|
NM_000426.4(LAMA2):c.6206A>G (p.Tyr2069Cys)
|
rs117884199
|
0.00011
|
NM_000455.5(STK11):c.825G>A (p.Pro275=)
|
rs202011521
|
0.00011
|
NM_000466.3(PEX1):c.1587+5T>C
|
rs199526105
|
0.00011
|
NM_000527.5(LDLR):c.2106G>A (p.Met702Ile)
|
rs140731590
|
0.00011
|
NM_000540.3(RYR1):c.14196C>A (p.Ile4732=)
|
rs201670423
|
0.00011
|
NM_000540.3(RYR1):c.6600G>A (p.Ala2200=)
|
rs375640581
|
0.00011
|
NM_000543.5(SMPD1):c.349G>A (p.Val117Met)
|
rs202206564
|
0.00011
|
NM_000543.5(SMPD1):c.909A>G (p.Ala303=)
|
rs201134693
|
0.00011
|
NM_000642.3(AGL):c.3231G>A (p.Lys1077=)
|
rs138063386
|
0.00011
|
NM_000817.3(GAD1):c.1120-8C>A
|
rs113638388
|
0.00011
|
NM_001017420.3(ESCO2):c.325T>C (p.Cys109Arg)
|
rs199653554
|
0.00011
|
NM_001035.3(RYR2):c.7542G>A (p.Leu2514=)
|
rs371088367
|
0.00011
|
NM_001035.3(RYR2):c.8419A>G (p.Ile2807Val)
|
rs1394059438
|
0.00011
|
NM_001035.3(RYR2):c.9655G>A (p.Val3219Met)
|
rs371147744
|
0.00011
|
NM_001040716.2(PC):c.2783G>A (p.Arg928Gln)
|
rs755385132
|
0.00011
|
NM_001040716.2(PC):c.904-11C>T
|
rs200473405
|
0.00011
|
NM_001048174.2(MUTYH):c.1464G>A (p.Pro488=)
|
rs143796254
|
0.00011
|
NM_001065.4(TNFRSF1A):c.1328G>T (p.Gly443Val)
|
rs201062001
|
0.00011
|
NM_001114753.3(ENG):c.1135-8C>T
|
rs79426098
|
0.00011
|
NM_001126108.2(SLC12A3):c.2490C>T (p.Thr830=)
|
rs539069621
|
0.00011
|
NM_001130987.2(DYSF):c.5884+6C>T
|
rs144355449
|
0.00011
|
NM_001130987.2(DYSF):c.718A>G (p.Thr240Ala)
|
rs150029218
|
0.00011
|
NM_001134363.3(RBM20):c.544C>A (p.Pro182Thr)
|
rs397516622
|
0.00011
|
NM_001164508.2(NEB):c.18860G>A (p.Arg6287His)
|
rs200195063
|
0.00011
|
NM_001164508.2(NEB):c.19865G>A (p.Ser6622Asn)
|
rs144168709
|
0.00011
|
NM_001164508.2(NEB):c.23927C>T (p.Ser7976Leu)
|
rs202137113
|
0.00011
|
NM_001164508.2(NEB):c.24757A>G (p.Ile8253Val)
|
rs551649582
|
0.00011
|
NM_001166114.2(PNPLA6):c.2939G>C (p.Gly980Ala)
|
rs201902695
|
0.00011
|
NM_001166114.2(PNPLA6):c.4077C>T (p.Pro1359=)
|
rs143060121
|
0.00011
|
NM_001195248.2(APTX):c.762G>A (p.Pro254=)
|
rs571475924
|
0.00011
|
NM_001199397.3(NEK1):c.912T>C (p.Pro304=)
|
rs139433990
|
0.00011
|
NM_001277115.2(DNAH11):c.10569-15C>T
|
rs371205337
|
0.00011
|
NM_001330078.2(NRXN1):c.3489C>T (p.Ala1163=)
|
rs147580960
|
0.00011
|
NM_001352514.2(HLCS):c.951C>T (p.Ser317=)
|
rs185480832
|
0.00011
|
NM_001358530.2(MOCS1):c.583+12T>C
|
rs199797027
|
0.00011
|
NM_001360.3(DHCR7):c.765C>T (p.Phe255=)
|
rs200132007
|
0.00011
|
NM_001376.5(DYNC1H1):c.9324A>G (p.Glu3108=)
|
rs142338762
|
0.00011
|
NM_001377.3(DYNC2H1):c.291T>A (p.Val97=)
|
rs377529350
|
0.00011
|
NM_001377.3(DYNC2H1):c.6139+7C>T
|
rs200749262
|
0.00011
|
NM_001378615.1(CC2D2A):c.717+11T>C
|
rs184351317
|
0.00011
|
NM_001395413.1(POR):c.1755C>T (p.Asp585=)
|
rs72557949
|
0.00011
|
NM_001457.4(FLNB):c.2104G>A (p.Gly702Ser)
|
rs374090457
|
0.00011
|
NM_001457.4(FLNB):c.3753T>C (p.Phe1251=)
|
rs751650356
|
0.00011
|
NM_001457.4(FLNB):c.762G>A (p.Pro254=)
|
rs371715057
|
0.00011
|
NM_001609.4(ACADSB):c.960A>T (p.Ile320=)
|
rs147531541
|
0.00011
|
NM_002076.4(GNS):c.577C>T (p.Arg193Trp)
|
rs144220755
|
0.00011
|
NM_002435.3(MPI):c.378G>A (p.Pro126=)
|
rs752948071
|
0.00011
|
NM_002474.3(MYH11):c.4095C>T (p.His1365=)
|
rs374454281
|
0.00011
|
NM_002485.5(NBN):c.1036G>A (p.Val346Met)
|
rs200297914
|
0.00011
|
NM_002485.5(NBN):c.37+10G>C
|
rs369408590
|
0.00011
|
NM_002529.4(NTRK1):c.279G>A (p.Leu93=)
|
rs147983523
|
0.00011
|
NM_002617.4(PEX10):c.268C>T (p.Leu90=)
|
rs775772867
|
0.00011
|
NM_002617.4(PEX10):c.915G>A (p.Ala305=)
|
rs374891812
|
0.00011
|
NM_002633.3(PGM1):c.1028+11C>A
|
rs541069522
|
0.00011
|
NM_002693.3(POLG):c.1066C>T (p.Leu356=)
|
rs371431444
|
0.00011
|
NM_002693.3(POLG):c.87C>T (p.Ser29=)
|
rs587781116
|
0.00011
|
NM_003060.4(SLC22A5):c.952-14T>C
|
rs373018486
|
0.00011
|
NM_003119.4(SPG7):c.2274C>T (p.Ile758=)
|
rs147302322
|
0.00011
|
NM_003640.5(ELP1):c.1704A>G (p.Ser568=)
|
rs138192941
|
0.00011
|
NM_003721.4(RFXANK):c.529C>G (p.Leu177Val)
|
rs151053440
|
0.00011
|
NM_003982.4(SLC7A7):c.475C>T (p.Arg159Cys)
|
rs11568437
|
0.00011
|
NM_003982.4(SLC7A7):c.549A>C (p.Val183=)
|
rs146945921
|
0.00011
|
NM_004273.5(CHST3):c.423G>A (p.Thr141=)
|
rs376107245
|
0.00011
|
NM_004360.5(CDH1):c.2512A>G (p.Ser838Gly)
|
rs121964872
|
0.00011
|
NM_004415.4(DSP):c.1483G>A (p.Val495Met)
|
rs372014020
|
0.00011
|
NM_004525.3(LRP2):c.5370A>G (p.Gln1790=)
|
rs201155152
|
0.00011
|
NM_004525.3(LRP2):c.5553C>T (p.His1851=)
|
rs369998522
|
0.00011
|
NM_005142.3(CBLIF):c.256+10C>T
|
rs369960390
|
0.00011
|
NM_005535.3(IL12RB1):c.1190-13C>T
|
rs371881148
|
0.00011
|
NM_005535.3(IL12RB1):c.1269C>T (p.His423=)
|
rs367647802
|
0.00011
|
NM_006031.6(PCNT):c.4775T>G (p.Val1592Gly)
|
rs141276542
|
0.00011
|
NM_006397.3(RNASEH2A):c.199+8C>G
|
rs200834484
|
0.00011
|
NM_006397.3(RNASEH2A):c.36C>T (p.Gly12=)
|
rs375139492
|
0.00011
|
NM_006493.4(CLN5):c.1026A>G (p.Thr342=)
|
rs200637649
|
0.00011
|
NM_006790.3(MYOT):c.533G>A (p.Arg178His)
|
rs150293853
|
0.00011
|
NM_012092.4(ICOS):c.597A>G (p.Leu199=)
|
rs145698501
|
0.00011
|
NM_012213.3(MLYCD):c.1335C>T (p.Thr445=)
|
rs373675093
|
0.00011
|
NM_012213.3(MLYCD):c.741G>T (p.Gly247=)
|
rs376948469
|
0.00011
|
NM_012452.3(TNFRSF13B):c.126T>C (p.Pro42=)
|
rs377551435
|
0.00011
|
NM_014244.5(ADAMTS2):c.3018C>T (p.Asp1006=)
|
rs150535792
|
0.00011
|
NM_014252.4(SLC25A15):c.216C>T (p.Ile72=)
|
rs572717478
|
0.00011
|
NM_014363.6(SACS):c.5841C>T (p.Pro1947=)
|
rs145371235
|
0.00011
|
NM_014714.4(IFT140):c.2724C>T (p.Ala908=)
|
rs138166567
|
0.00011
|
NM_015474.4(SAMHD1):c.195G>T (p.Leu65=)
|
rs202024857
|
0.00011
|
NM_015474.4(SAMHD1):c.697-11A>G
|
rs200458478
|
0.00011
|
NM_016123.4(IRAK4):c.13A>G (p.Ile5Val)
|
rs56312115
|
0.00011
|
NM_017882.3(CLN6):c.585C>T (p.Gly195=)
|
rs144507672
|
0.00011
|
NM_018136.5(ASPM):c.5846A>G (p.His1949Arg)
|
rs186663906
|
0.00011
|
NM_018714.3(COG1):c.2511-5C>G
|
rs201123101
|
0.00011
|
NM_018714.3(COG1):c.315+8C>T
|
rs748732950
|
0.00011
|
NM_020366.4(RPGRIP1):c.658A>G (p.Met220Val)
|
rs371762530
|
0.00011
|
NM_020376.4(PNPLA2):c.597C>T (p.Ser199=)
|
rs552415591
|
0.00011
|
NM_020533.3(MCOLN1):c.1021G>A (p.Val341Ile)
|
rs771026953
|
0.00011
|
NM_020533.3(MCOLN1):c.177G>A (p.Lys59=)
|
rs146187044
|
0.00011
|
NM_020533.3(MCOLN1):c.24C>T (p.Arg8=)
|
rs886527724
|
0.00011
|
NM_020975.6(RET):c.957C>A (p.Leu319=)
|
rs149926238
|
0.00011
|
NM_022041.4(GAN):c.1323T>C (p.Tyr441=)
|
rs368072478
|
0.00011
|
NM_022369.4(STRA6):c.1242C>T (p.Arg414=)
|
rs568924861
|
0.00011
|
NM_024079.5(ALG8):c.1516G>A (p.Ala506Thr)
|
rs149692072
|
0.00011
|
NM_024649.5(BBS1):c.981C>T (p.Pro327=)
|
rs142243482
|
0.00011
|
NM_025215.6(PUS1):c.1266G>A (p.Gly422=)
|
rs201441662
|
0.00011
|
NM_032444.4(SLX4):c.833G>A (p.Arg278Gln)
|
rs201192909
|
0.00011
|
NM_032520.5(GNPTG):c.510C>T (p.His170=)
|
rs202240106
|
0.00011
|
NM_052859.4(RFT1):c.978T>C (p.Ala326=)
|
rs372101755
|
0.00011
|
NM_080424.4(SP110):c.898+14A>G
|
rs200753717
|
0.00011
|
NM_133433.4(NIPBL):c.5981A>G (p.Asn1994Ser)
|
rs368028754
|
0.00011
|
NM_133642.5(LARGE1):c.2073+11C>T
|
rs774384587
|
0.00011
|
NM_138694.4(PKHD1):c.10910G>A (p.Arg3637His)
|
rs371329493
|
0.00011
|
NM_138694.4(PKHD1):c.1974C>T (p.Phe658=)
|
rs199635188
|
0.00011
|
NM_138694.4(PKHD1):c.4304G>C (p.Ser1435Thr)
|
rs138242579
|
0.00011
|
NM_138694.4(PKHD1):c.7221T>C (p.Phe2407=)
|
rs199559837
|
0.00011
|
NM_152383.5(DIS3L2):c.1599C>T (p.His533=)
|
rs760229466
|
0.00011
|
NM_152564.5(VPS13B):c.10258G>A (p.Val3420Met)
|
rs191174682
|
0.00011
|
NM_152594.3(SPRED1):c.963G>A (p.Lys321=)
|
rs369711772
|
0.00011
|
NM_153033.5(KCTD7):c.621C>A (p.Leu207=)
|
rs376944331
|
0.00011
|
NM_173842.3(IL1RN):c.529G>A (p.Glu177Lys)
|
rs114929884
|
0.00011
|
NM_182914.3(SYNE2):c.15031A>G (p.Ile5011Val)
|
rs201269146
|
0.00011
|
NM_198525.3(KIF7):c.1390A>G (p.Ile464Val)
|
rs570856269
|
0.00011
|
NM_198586.3(NHLRC1):c.478T>C (p.Cys160Arg)
|
rs200595273
|
0.00011
|
NM_000016.6(ACADM):c.210T>G (p.Thr70=)
|
rs778891510
|
0.00010
|
NM_000023.4(SGCA):c.320C>T (p.Ala107Val)
|
rs186669379
|
0.00010
|
NM_000038.6(APC):c.388A>G (p.Ser130Gly)
|
rs150973053
|
0.00010
|
NM_000051.4(ATM):c.6382T>C (p.Leu2128=)
|
rs753646931
|
0.00010
|
NM_000057.4(BLM):c.2839A>G (p.Ile947Val)
|
rs189925962
|
0.00010
|
NM_000070.3(CAPN3):c.945+15G>A
|
rs567256305
|
0.00010
|
NM_000071.3(CBS):c.1146-12C>T
|
rs199550738
|
0.00010
|
NM_000071.3(CBS):c.894G>A (p.Gln298=)
|
rs370514077
|
0.00010
|
NM_000080.4(CHRNE):c.710G>T (p.Arg237Leu)
|
rs201434993
|
0.00010
|
NM_000081.4(LYST):c.10221C>T (p.Tyr3407=)
|
rs146457386
|
0.00010
|
NM_000081.4(LYST):c.196T>C (p.Leu66=)
|
rs138393416
|
0.00010
|
NM_000094.4(COL7A1):c.520+9C>T
|
rs368959634
|
0.00010
|
NM_000094.4(COL7A1):c.8095G>A (p.Glu2699Lys)
|
rs200938473
|
0.00010
|
NM_000130.5(F5):c.2037C>G (p.Phe679Leu)
|
rs374118662
|
0.00010
|
NM_000130.5(F5):c.5923G>C (p.Gly1975Arg)
|
rs146312772
|
0.00010
|
NM_000137.4(FAH):c.648C>A (p.Ile216=)
|
rs147016995
|
0.00010
|
NM_000138.5(FBN1):c.2094G>T (p.Pro698=)
|
rs144775475
|
0.00010
|
NM_000143.4(FH):c.33G>C (p.Ser11=)
|
rs200542051
|
0.00010
|
NM_000147.5(FUCA1):c.825A>T (p.Gly275=)
|
rs199675692
|
0.00010
|
NM_000152.5(GAA):c.1758G>A (p.Ala586=)
|
rs79795428
|
0.00010
|
NM_000152.5(GAA):c.1920T>G (p.Pro640=)
|
rs144090460
|
0.00010
|
NM_000152.5(GAA):c.2319C>T (p.Tyr773=)
|
rs377402848
|
0.00010
|
NM_000179.3(MSH6):c.1875C>T (p.Ser625=)
|
rs63749886
|
0.00010
|
NM_000199.5(SGSH):c.250-15C>T
|
rs369082713
|
0.00010
|
NM_000203.5(IDUA):c.1402+8G>A
|
rs1315308939
|
0.00010
|
NM_000254.3(MTR):c.3552C>T (p.Thr1184=)
|
rs760793648
|
0.00010
|
NM_000254.3(MTR):c.866-10C>G
|
rs368755647
|
0.00010
|
NM_000262.3(NAGA):c.618G>A (p.Ala206=)
|
rs200770245
|
0.00010
|
NM_000271.5(NPC1):c.962C>T (p.Ala321Val)
|
rs138079168
|
0.00010
|
NM_000282.4(PCCA):c.1193G>C (p.Cys398Ser)
|
rs149293297
|
0.00010
|
NM_000293.3(PHKB):c.714G>A (p.Ser238=)
|
rs772326970
|
0.00010
|
NM_000337.6(SGCD):c.-30G>A
|
rs374043017
|
0.00010
|
NM_000350.3(ABCA4):c.3285C>T (p.Tyr1095=)
|
rs570745701
|
0.00010
|
NM_000355.4(TCN2):c.921A>C (p.Pro307=)
|
rs138738105
|
0.00010
|
NM_000439.5(PCSK1):c.709+11G>A
|
rs199951150
|
0.00010
|
NM_000441.2(SLC26A4):c.17G>T (p.Gly6Val)
|
rs111033423
|
0.00010
|
NM_000447.3(PSEN2):c.300C>T (p.Ile100=)
|
rs200801915
|
0.00010
|
NM_000465.4(BARD1):c.1568+15G>T
|
rs145936354
|
0.00010
|
NM_000487.6(ARSA):c.511G>A (p.Asp171Asn)
|
rs74315466
|
0.00010
|
NM_000532.5(PCCB):c.1154A>G (p.Asn385Ser)
|
rs151078515
|
0.00010
|
NM_000535.7(PMS2):c.2276-10A>G
|
rs573900018
|
0.00010
|
NM_000540.3(RYR1):c.14670G>C (p.Val4890=)
|
rs773080803
|
0.00010
|
NM_000709.4(BCKDHA):c.159G>C (p.Gln53His)
|
rs775471043
|
0.00010
|
NM_000784.4(CYP27A1):c.792G>A (p.Val264=)
|
rs144018609
|
0.00010
|
NM_000787.4(DBH):c.1094T>C (p.Met365Thr)
|
rs200103371
|
0.00010
|
NM_000821.7(GGCX):c.539+10del
|
rs774014206
|
0.00010
|
NM_001005242.3(PKP2):c.826C>T (p.Pro276Ser)
|
rs201944276
|
0.00010
|
NM_001035.3(RYR2):c.5571G>A (p.Pro1857=)
|
rs371934582
|
0.00010
|
NM_001035.3(RYR2):c.9067+10C>T
|
rs372631657
|
0.00010
|
NM_001040436.3(YARS2):c.*142T>C
|
rs190589666
|
0.00010
|
NM_001040716.2(PC):c.2224-14C>T
|
rs780315450
|
0.00010
|
NM_001065.4(TNFRSF1A):c.249G>A (p.Glu83=)
|
rs104895265
|
0.00010
|
NM_001080.3(ALDH5A1):c.862A>G (p.Thr288Ala)
|
rs373320785
|
0.00010
|
NM_001114753.3(ENG):c.850G>A (p.Glu284Lys)
|
rs372045549
|
0.00010
|
NM_001130987.2(DYSF):c.1149T>G (p.Pro383=)
|
rs199955501
|
0.00010
|
NM_001164508.2(NEB):c.1182A>C (p.Thr394=)
|
rs186233985
|
0.00010
|
NM_001164508.2(NEB):c.19751T>G (p.Met6584Arg)
|
rs190605644
|
0.00010
|
NM_001164508.2(NEB):c.25564G>A (p.Val8522Ile)
|
rs117861109
|
0.00010
|
NM_001164508.2(NEB):c.6369G>A (p.Thr2123=)
|
rs540542570
|
0.00010
|
NM_001164508.2(NEB):c.7343G>A (p.Arg2448His)
|
rs373589529
|
0.00010
|
NM_001199397.3(NEK1):c.642G>A (p.Lys214=)
|
rs369725706
|
0.00010
|
NM_001330078.2(NRXN1):c.3090A>C (p.Gly1030=)
|
rs201886024
|
0.00010
|
NM_001355436.2(SPTB):c.4973+4C>T
|
rs758611621
|
0.00010
|
NM_001369.3(DNAH5):c.2400G>A (p.Glu800=)
|
rs199951976
|
0.00010
|
NM_001376.5(DYNC1H1):c.2211T>A (p.Val737=)
|
rs149902566
|
0.00010
|
NM_001378615.1(CC2D2A):c.1947G>A (p.Thr649=)
|
rs756341605
|
0.00010
|
NM_001386393.1(PANK2):c.1065C>G (p.Gly355=)
|
rs564606657
|
0.00010
|
NM_001395413.1(POR):c.1191G>A (p.Ser397=)
|
rs372401863
|
0.00010
|
NM_001395413.1(POR):c.1578G>A (p.Thr526=)
|
rs371795413
|
0.00010
|
NM_001613.4(ACTA2):c.201G>C (p.Leu67=)
|
rs199773697
|
0.00010
|
NM_001754.5(RUNX1):c.*4188G>C
|
rs761390141
|
0.00010
|
NM_001875.5(CPS1):c.3796T>C (p.Phe1266Leu)
|
rs373841124
|
0.00010
|
NM_001943.5(DSG2):c.1597G>A (p.Val533Ile)
|
rs199761749
|
0.00010
|
NM_002454.3(MTRR):c.-26+14C>T
|
rs368193742
|
0.00010
|
NM_002454.3(MTRR):c.1020C>T (p.Cys340=)
|
rs201348649
|
0.00010
|
NM_002474.3(MYH11):c.4809G>A (p.Thr1603=)
|
rs140577744
|
0.00010
|
NM_002474.3(MYH11):c.5406C>G (p.His1802Gln)
|
rs746211825
|
0.00010
|
NM_002529.4(NTRK1):c.711G>A (p.Thr237=)
|
rs537430475
|
0.00010
|
NM_002633.3(PGM1):c.1107C>A (p.Ser369Arg)
|
rs200407907
|
0.00010
|
NM_002693.3(POLG):c.2724C>T (p.Ala908=)
|
rs377390914
|
0.00010
|
NM_002778.4(PSAP):c.1172C>T (p.Thr391Met)
|
rs202125074
|
0.00010
|
NM_003227.4(TFR2):c.1076T>A (p.Ile359Asn)
|
rs140020076
|
0.00010
|
NM_003331.5(TYK2):c.1806C>T (p.Asn602=)
|
rs765576893
|
0.00010
|
NM_003384.3(VRK1):c.161-14A>G
|
rs375176918
|
0.00010
|
NM_003560.4(PLA2G6):c.1725G>A (p.Thr575=)
|
rs200599704
|
0.00010
|
NM_003664.5(AP3B1):c.2340C>T (p.Ser780=)
|
rs199599147
|
0.00010
|
NM_004239.4(TRIP11):c.1186+14G>A
|
rs371492052
|
0.00010
|
NM_004287.5(GOSR2):c.246T>C (p.Thr82=)
|
rs141380070
|
0.00010
|
NM_004415.4(DSP):c.3146C>T (p.Ser1049Leu)
|
rs751361395
|
0.00010
|
NM_004415.4(DSP):c.6307A>G (p.Lys2103Glu)
|
rs149513743
|
0.00010
|
NM_004525.3(LRP2):c.8112C>A (p.Ser2704=)
|
rs148473513
|
0.00010
|
NM_004525.3(LRP2):c.9066C>T (p.Ser3022=)
|
rs374380173
|
0.00010
|
NM_005359.6(SMAD4):c.21G>A (p.Thr7=)
|
rs142292491
|
0.00010
|
NM_005359.6(SMAD4):c.424+5G>A
|
rs200772603
|
0.00010
|
NM_005609.4(PYGM):c.606C>T (p.His202=)
|
rs79860859
|
0.00010
|
NM_006118.4(HAX1):c.505-4G>A
|
rs186219647
|
0.00010
|
NM_006892.4(DNMT3B):c.1804G>A (p.Val602Ile)
|
rs752495145
|
0.00010
|
NM_014244.5(ADAMTS2):c.1431G>A (p.Ala477=)
|
rs147259971
|
0.00010
|
NM_014252.4(SLC25A15):c.278G>A (p.Arg93Gln)
|
rs369201060
|
0.00010
|
NM_014339.7(IL17RA):c.625G>A (p.Val209Met)
|
rs534512644
|
0.00010
|
NM_014339.7(IL17RA):c.676G>C (p.Glu226Gln)
|
rs144085995
|
0.00010
|
NM_014384.3(ACAD8):c.567+12C>T
|
rs375812492
|
0.00010
|
NM_014855.3(AP5Z1):c.1132+7C>T
|
rs775865217
|
0.00010
|
NM_015166.4(MLC1):c.95C>T (p.Ala32Val)
|
rs200382943
|
0.00010
|
NM_015627.3(LDLRAP1):c.423C>T (p.Leu141=)
|
rs140170877
|
0.00010
|
NM_018344.6(SLC29A3):c.855G>A (p.Ser285=)
|
rs566110994
|
0.00010
|
NM_020366.4(RPGRIP1):c.2334T>C (p.Asp778=)
|
rs188318743
|
0.00010
|
NM_020919.4(ALS2):c.331G>A (p.Val111Ile)
|
rs61745503
|
0.00010
|
NM_022124.6(CDH23):c.3186C>A (p.Thr1062=)
|
rs201589645
|
0.00010
|
NM_022124.6(CDH23):c.8824G>A (p.Asp2942Asn)
|
rs371286324
|
0.00010
|
NM_022369.4(STRA6):c.1566G>T (p.Val522=)
|
rs886051474
|
0.00010
|
NM_022455.5(NSD1):c.4605C>T (p.Arg1535=)
|
rs140229717
|
0.00010
|
NM_024685.4(BBS10):c.1590A>C (p.Arg530Ser)
|
rs146812823
|
0.00010
|
NM_025074.7(FRAS1):c.4181G>C (p.Gly1394Ala)
|
rs376487875
|
0.00010
|
NM_030777.4(SLC2A10):c.330C>T (p.Phe110=)
|
rs199848479
|
0.00010
|
NM_032601.4(MCEE):c.164T>C (p.Val55Ala)
|
rs374147386
|
0.00010
|
NM_052859.4(RFT1):c.827-14T>C
|
rs571722733
|
0.00010
|
NM_053025.4(MYLK):c.1133G>A (p.Arg378His)
|
rs56378658
|
0.00010
|
NM_053025.4(MYLK):c.2799G>A (p.Val933=)
|
rs144806671
|
0.00010
|
NM_139343.3(BIN1):c.1047G>A (p.Pro349=)
|
rs148945502
|
0.00010
|
NM_139343.3(BIN1):c.942C>T (p.His314=)
|
rs370911793
|
0.00010
|
NM_152383.5(DIS3L2):c.108G>A (p.Lys36=)
|
rs371477071
|
0.00010
|
NM_152383.5(DIS3L2):c.2124C>T (p.Asp708=)
|
rs368518323
|
0.00010
|
NM_152564.5(VPS13B):c.3297A>C (p.Thr1099=)
|
rs200982547
|
0.00010
|
NM_152783.5(D2HGDH):c.1306+15G>A
|
rs759068118
|
0.00010
|
NM_198525.3(KIF7):c.3759C>G (p.Pro1253=)
|
rs147767277
|
0.00010
|
NM_206933.4(USH2A):c.4445C>T (p.Thr1482Ile)
|
rs200790812
|
0.00010
|
NM_000017.4(ACADS):c.*4C>T
|
rs774815274
|
0.00009
|
NM_000017.4(ACADS):c.1108A>G (p.Met370Val)
|
rs566325901
|
0.00009
|
NM_000018.4(ACADVL):c.114G>C (p.Arg38=)
|
rs777380964
|
0.00009
|
NM_000020.3(ACVRL1):c.9G>A (p.Leu3=)
|
rs779236098
|
0.00009
|
NM_000037.4(ANK1):c.1926C>T (p.Ala642=)
|
rs534680895
|
0.00009
|
NM_000037.4(ANK1):c.4136C>T (p.Pro1379Leu)
|
rs748160803
|
0.00009
|
NM_000037.4(ANK1):c.483G>A (p.Ala161=)
|
rs200639644
|
0.00009
|
NM_000038.6(APC):c.6525A>G (p.Thr2175=)
|
rs200151646
|
0.00009
|
NM_000049.4(ASPA):c.906G>A (p.Thr302=)
|
rs371394875
|
0.00009
|
NM_000051.4(ATM):c.2778A>G (p.Lys926=)
|
rs372569168
|
0.00009
|
NM_000051.4(ATM):c.5005+7_5005+8del
|
rs587780626
|
0.00009
|
NM_000051.4(ATM):c.6820G>A (p.Ala2274Thr)
|
rs567060474
|
0.00009
|
NM_000051.4(ATM):c.8851-3T>G
|
rs748874219
|
0.00009
|
NM_000053.4(ATP7B):c.2994C>T (p.Gly998=)
|
rs373102009
|
0.00009
|
NM_000057.4(BLM):c.2739C>T (p.Leu913=)
|
rs759223856
|
0.00009
|
NM_000059.4(BRCA2):c.8215G>A (p.Val2739Ile)
|
rs80359069
|
0.00009
|
NM_000070.3(CAPN3):c.2269C>T (p.His757Tyr)
|
rs148246325
|
0.00009
|
NM_000081.4(LYST):c.281C>T (p.Thr94Ile)
|
rs777389303
|
0.00009
|
NM_000112.4(SLC26A2):c.1761C>T (p.Leu587=)
|
rs745590895
|
0.00009
|
NM_000127.3(EXT1):c.1674A>G (p.Thr558=)
|
rs202051061
|
0.00009
|
NM_000135.4(FANCA):c.189+12C>G
|
rs753101174
|
0.00009
|
NM_000135.4(FANCA):c.3138C>T (p.His1046=)
|
rs150884376
|
0.00009
|
NM_000135.4(FANCA):c.3999C>T (p.Phe1333=)
|
rs774576283
|
0.00009
|
NM_000138.5(FBN1):c.396T>C (p.Asp132=)
|
rs147481356
|
0.00009
|
NM_000143.4(FH):c.*102T>C
|
rs200093224
|
0.00009
|
NM_000182.5(HADHA):c.2147-8C>G
|
rs368976628
|
0.00009
|
NM_000187.4(HGD):c.1206A>G (p.Ser402=)
|
rs140500816
|
0.00009
|
NM_000199.5(SGSH):c.417G>A (p.Thr139=)
|
rs142729872
|
0.00009
|
NM_000211.5(ITGB2):c.729C>T (p.Val243=)
|
rs199735877
|
0.00009
|
NM_000215.4(JAK3):c.2097G>A (p.Ala699=)
|
rs571402316
|
0.00009
|
NM_000215.4(JAK3):c.2391A>G (p.Ala797=)
|
rs199910484
|
0.00009
|
NM_000215.4(JAK3):c.3183G>T (p.Pro1061=)
|
rs369402343
|
0.00009
|
NM_000249.4(MLH1):c.1808C>G (p.Pro603Arg)
|
rs63750876
|
0.00009
|
NM_000257.4(MYH7):c.2183C>T (p.Ala728Val)
|
rs121913644
|
0.00009
|
NM_000260.4(MYO7A):c.549G>A (p.Ser183=)
|
rs188198404
|
0.00009
|
NM_000268.4(NF2):c.879T>C (p.Asn293=)
|
rs151198477
|
0.00009
|
NM_000271.5(NPC1):c.2775C>T (p.Asn925=)
|
rs147419225
|
0.00009
|
NM_000275.3(OCA2):c.1479T>G (p.Val493=)
|
rs374434751
|
0.00009
|
NM_000275.3(OCA2):c.2245-6C>A
|
rs368772032
|
0.00009
|
NM_000275.3(OCA2):c.2432+11A>G
|
rs145577954
|
0.00009
|
NM_000293.3(PHKB):c.491A>G (p.Tyr164Cys)
|
rs144211929
|
0.00009
|
NM_000302.4(PLOD1):c.1203-3C>T
|
rs376288573
|
0.00009
|
NM_000334.4(SCN4A):c.2220G>A (p.Pro740=)
|
rs368278422
|
0.00009
|
NM_000335.5(SCN5A):c.1598G>A (p.Arg533His)
|
rs146848219
|
0.00009
|
NM_000335.5(SCN5A):c.4783T>A (p.Phe1595Ile)
|
rs199473278
|
0.00009
|
NM_000341.4(SLC3A1):c.1717T>C (p.Leu573=)
|
rs148703534
|
0.00009
|
NM_000341.4(SLC3A1):c.1889G>A (p.Gly630Asp)
|
rs150557210
|
0.00009
|
NM_000350.3(ABCA4):c.6340G>A (p.Val2114Met)
|
rs202127235
|
0.00009
|
NM_000350.3(ABCA4):c.872C>T (p.Pro291Leu)
|
rs190540405
|
0.00009
|
NM_000359.3(TGM1):c.177C>T (p.Asp59=)
|
rs8193031
|
0.00009
|
NM_000396.4(CTSK):c.22C>T (p.Leu8=)
|
rs138360770
|
0.00009
|
NM_000396.4(CTSK):c.244-10_244-8del
|
rs774922287
|
0.00009
|
NM_000426.4(LAMA2):c.2736G>A (p.Ala912=)
|
rs142671449
|
0.00009
|
NM_000426.4(LAMA2):c.8223G>A (p.Thr2741=)
|
rs150596964
|
0.00009
|
NM_000481.4(AMT):c.589G>C (p.Asp197His)
|
rs200550585
|
0.00009
|
NM_000488.4(SERPINC1):c.299A>G (p.Asp100Gly)
|
rs369524182
|
0.00009
|
NM_000506.5(F2):c.317-4G>A
|
rs375713715
|
0.00009
|
NM_000515.5(GH1):c.387C>T (p.Tyr129=)
|
rs370785603
|
0.00009
|
NM_000520.6(HEXA):c.1397A>G (p.Asn466Ser)
|
rs200936836
|
0.00009
|
NM_000527.5(LDLR):c.1586+15C>T
|
rs371716068
|
0.00009
|
NM_000528.4(MAN2B1):c.744G>A (p.Pro248=)
|
rs3745649
|
0.00009
|
NM_000540.3(RYR1):c.4763C>T (p.Pro1588Leu)
|
rs151029675
|
0.00009
|
NM_000540.3(RYR1):c.6549-9C>T
|
rs370994573
|
0.00009
|
NM_000751.3(CHRND):c.480C>T (p.Phe160=)
|
rs200986300
|
0.00009
|
NM_001005361.3(DNM2):c.633C>T (p.Asp211=)
|
rs200191870
|
0.00009
|
NM_001005373.4(LRSAM1):c.1422+15T>A
|
rs372509526
|
0.00009
|
NM_001005373.4(LRSAM1):c.1772C>T (p.Ala591Val)
|
rs139344911
|
0.00009
|
NM_001025603.2(RFX5):c.1830C>G (p.Asp610Glu)
|
rs141889707
|
0.00009
|
NM_001035.3(RYR2):c.3598+13T>C
|
rs145104355
|
0.00009
|
NM_001035.3(RYR2):c.4044G>A (p.Lys1348=)
|
rs755391572
|
0.00009
|
NM_001039958.2(MESP2):c.168T>G (p.Pro56=)
|
rs894593728
|
0.00009
|
NM_001042492.3(NF1):c.4724+11A>G
|
rs368649260
|
0.00009
|
NM_001042492.3(NF1):c.5513C>G (p.Ser1838Cys)
|
rs368654378
|
0.00009
|
NM_001042492.3(NF1):c.5757G>A (p.Glu1919=)
|
rs141077224
|
0.00009
|
NM_001048174.2(MUTYH):c.1171G>A (p.Ala391Thr)
|
rs587780744
|
0.00009
|
NM_001080.3(ALDH5A1):c.727-13T>G
|
rs187404409
|
0.00009
|
NM_001083116.3(PRF1):c.1153C>T (p.Arg385Trp)
|
rs551046401
|
0.00009
|
NM_001083116.3(PRF1):c.1350G>A (p.Thr450=)
|
rs200312496
|
0.00009
|
NM_001089.3(ABCA3):c.3207C>T (p.His1069=)
|
rs151260964
|
0.00009
|
NM_001100.4(ACTA1):c.867C>T (p.Ile289=)
|
rs140074813
|
0.00009
|
NM_001130438.3(SPTAN1):c.6654C>T (p.His2218=)
|
rs372825476
|
0.00009
|
NM_001130823.3(DNMT1):c.483T>C (p.Thr161=)
|
rs764496230
|
0.00009
|
NM_001130987.2(DYSF):c.1008C>T (p.Asp336=)
|
rs146687581
|
0.00009
|
NM_001130987.2(DYSF):c.1798C>T (p.Arg600Trp)
|
rs149386446
|
0.00009
|
NM_001130987.2(DYSF):c.2725G>A (p.Val909Ile)
|
rs201622087
|
0.00009
|
NM_001130987.2(DYSF):c.337C>T (p.Pro113Ser)
|
rs753922932
|
0.00009
|
NM_001130987.2(DYSF):c.3402+11C>G
|
rs780844859
|
0.00009
|
NM_001130987.2(DYSF):c.395C>G (p.Pro132Arg)
|
rs775881095
|
0.00009
|
NM_001130987.2(DYSF):c.4252C>G (p.Pro1418Ala)
|
rs151268930
|
0.00009
|
NM_001130987.2(DYSF):c.6100A>C (p.Ser2034Arg)
|
rs201890095
|
0.00009
|
NM_001161352.2(KCNMA1):c.2283G>A (p.Pro761=)
|
rs377596790
|
0.00009
|
NM_001161352.2(KCNMA1):c.483C>T (p.Ser161=)
|
rs200741233
|
0.00009
|
NM_001161352.2(KCNMA1):c.884+15G>A
|
rs200196183
|
0.00009
|
NM_001164508.2(NEB):c.12279G>A (p.Pro4093=)
|
rs367638234
|
0.00009
|
NM_001164508.2(NEB):c.18870C>T (p.Asn6290=)
|
rs200122580
|
0.00009
|
NM_001164508.2(NEB):c.194C>T (p.Pro65Leu)
|
rs375909006
|
0.00009
|
NM_001164508.2(NEB):c.9832-7A>T
|
rs778183317
|
0.00009
|
NM_001166114.2(PNPLA6):c.648G>A (p.Pro216=)
|
rs566213812
|
0.00009
|
NM_001199397.3(NEK1):c.2421C>T (p.Phe807=)
|
rs56346829
|
0.00009
|
NM_001242957.3(MAK):c.405T>G (p.Gly135=)
|
rs373994062
|
0.00009
|
NM_001256545.2(MEGF10):c.2157T>C (p.His719=)
|
rs374544972
|
0.00009
|
NM_001256545.2(MEGF10):c.2289C>T (p.Asn763=)
|
rs151316424
|
0.00009
|
NM_001256545.2(MEGF10):c.2442T>C (p.Thr814=)
|
rs370850456
|
0.00009
|
NM_001256545.2(MEGF10):c.2943G>A (p.Pro981=)
|
rs371253627
|
0.00009
|
NM_001267550.2(TTN):c.97247C>T (p.Ser32416Leu)
|
rs377412567
|
0.00009
|
NM_001277115.2(DNAH11):c.12534A>G (p.Pro4178=)
|
rs752183095
|
0.00009
|
NM_001355436.2(SPTB):c.3425G>A (p.Arg1142Gln)
|
rs141173028
|
0.00009
|
NM_001360.3(DHCR7):c.1155C>T (p.Ala385=)
|
rs777517985
|
0.00009
|
NM_001360.3(DHCR7):c.735C>T (p.Ile245=)
|
rs12800
|
0.00009
|
NM_001365951.3(KIF1B):c.315T>C (p.Tyr105=)
|
rs144889528
|
0.00009
|
NM_001376.5(DYNC1H1):c.13515+8C>T
|
rs200901713
|
0.00009
|
NM_001376.5(DYNC1H1):c.13782G>A (p.Lys4594=)
|
rs147580834
|
0.00009
|
NM_001376.5(DYNC1H1):c.1560T>C (p.Ile520=)
|
rs761916499
|
0.00009
|
NM_001377.3(DYNC2H1):c.2479A>G (p.Ile827Val)
|
rs201224700
|
0.00009
|
NM_001377.3(DYNC2H1):c.8833-3T>C
|
rs551227065
|
0.00009
|
NM_001395413.1(POR):c.1806+7C>T
|
rs72557951
|
0.00009
|
NM_001395413.1(POR):c.357+14G>A
|
rs372941705
|
0.00009
|
NM_001457.4(FLNB):c.7120C>T (p.Arg2374Cys)
|
rs146963572
|
0.00009
|
NM_001558.4(IL10RA):c.1452G>A (p.Glu484=)
|
rs139576148
|
0.00009
|
NM_001875.5(CPS1):c.1087-7C>T
|
rs202117044
|
0.00009
|
NM_001875.5(CPS1):c.1154T>C (p.Ile385Thr)
|
rs201955205
|
0.00009
|
NM_001943.5(DSG2):c.147C>T (p.Arg49=)
|
rs531036279
|
0.00009
|
NM_001999.4(FBN2):c.8239C>G (p.Leu2747Val)
|
rs145353444
|
0.00009
|
NM_002076.4(GNS):c.624+10A>G
|
rs757526895
|
0.00009
|
NM_002103.5(GYS1):c.1305G>A (p.Thr435=)
|
rs147610727
|
0.00009
|
NM_002187.3(IL12B):c.300G>A (p.Ser100=)
|
rs142998256
|
0.00009
|
NM_002474.3(MYH11):c.3293+6G>A
|
rs370658839
|
0.00009
|
NM_002474.3(MYH11):c.5226G>C (p.Glu1742Asp)
|
rs144421849
|
0.00009
|
NM_002474.3(MYH11):c.5277C>T (p.Val1759=)
|
rs112564682
|
0.00009
|
NM_002618.4(PEX13):c.338T>C (p.Leu113Pro)
|
rs202077756
|
0.00009
|
NM_002693.3(POLG):c.*44G>C
|
rs563185483
|
0.00009
|
NM_003119.4(SPG7):c.1971C>T (p.Ile657=)
|
rs140356355
|
0.00009
|
NM_003331.5(TYK2):c.1398C>T (p.Pro466=)
|
rs200752112
|
0.00009
|
NM_003982.4(SLC7A7):c.1128A>C (p.Glu376Asp)
|
rs139619724
|
0.00009
|
NM_004415.4(DSP):c.5523A>C (p.Ser1841=)
|
rs730882116
|
0.00009
|
NM_004525.3(LRP2):c.10906C>T (p.Arg3636Trp)
|
rs747833963
|
0.00009
|
NM_005142.3(CBLIF):c.1074-3T>C
|
rs370833765
|
0.00009
|
NM_005373.3(MPL):c.1467C>T (p.Thr489=)
|
rs759161511
|
0.00009
|
NM_005535.3(IL12RB1):c.309T>C (p.Ala103=)
|
rs369830496
|
0.00009
|
NM_005535.3(IL12RB1):c.320T>C (p.Val107Ala)
|
rs150285174
|
0.00009
|
NM_005566.4(LDHA):c.57C>T (p.Pro19=)
|
rs11553870
|
0.00009
|
NM_005592.4(MUSK):c.312T>C (p.Gly104=)
|
rs56181115
|
0.00009
|
NM_005609.4(PYGM):c.540C>T (p.Ala180=)
|
rs148731983
|
0.00009
|
NM_005609.4(PYGM):c.877C>T (p.Arg293Trp)
|
rs558267822
|
0.00009
|
NM_005787.6(ALG3):c.777C>T (p.Ser259=)
|
rs142901178
|
0.00009
|
NM_005902.4(SMAD3):c.885G>A (p.Arg295=)
|
rs139616052
|
0.00009
|
NM_006005.3(WFS1):c.2347T>C (p.Phe783Leu)
|
rs71526461
|
0.00009
|
NM_006031.6(PCNT):c.1155A>G (p.Ala385=)
|
rs201944549
|
0.00009
|
NM_006206.6(PDGFRA):c.17C>T (p.Pro6Leu)
|
rs754092062
|
0.00009
|
NM_006348.5(COG5):c.292+14A>G
|
rs374007477
|
0.00009
|
NM_006493.4(CLN5):c.-4C>T
|
rs587780896
|
0.00009
|
NM_006996.3(SLC19A2):c.1486A>G (p.Thr496Ala)
|
rs769397647
|
0.00009
|
NM_007272.3(CTRC):c.792+12C>A
|
rs371799801
|
0.00009
|
NM_007294.4(BRCA1):c.2352G>A (p.Ser784=)
|
rs372017932
|
0.00009
|
NM_013247.5(HTRA2):c.1046-13C>T
|
rs542851656
|
0.00009
|
NM_014000.3(VCL):c.3066C>T (p.Ile1022=)
|
rs138619320
|
0.00009
|
NM_014140.4(SMARCAL1):c.812-15T>C
|
rs375588610
|
0.00009
|
NM_014252.4(SLC25A15):c.147C>G (p.Asp49Glu)
|
rs187685447
|
0.00009
|
NM_014384.3(ACAD8):c.110-9T>C
|
rs371550147
|
0.00009
|
NM_014714.4(IFT140):c.4354G>A (p.Glu1452Lys)
|
rs142106374
|
0.00009
|
NM_014855.3(AP5Z1):c.259G>A (p.Ala87Thr)
|
rs775883752
|
0.00009
|
NM_014908.4(DOLK):c.192A>G (p.Leu64=)
|
rs563156233
|
0.00009
|
NM_015702.3(MMADHC):c.-16A>G
|
rs144111552
|
0.00009
|
NM_017636.4(TRPM4):c.2133-9C>G
|
rs530013543
|
0.00009
|
NM_017866.6(TMEM70):c.555T>G (p.Asn185Lys)
|
rs199655842
|
0.00009
|
NM_017882.3(CLN6):c.298-15C>T
|
rs368661456
|
0.00009
|
NM_018006.5(TRMU):c.1188C>G (p.Gly396=)
|
rs142346622
|
0.00009
|
NM_018714.3(COG1):c.1722C>T (p.Ser574=)
|
rs149888309
|
0.00009
|
NM_018972.4(GDAP1):c.693A>T (p.Pro231=)
|
rs181157785
|
0.00009
|
NM_019892.6(INPP5E):c.304G>T (p.Asp102Tyr)
|
rs187724945
|
0.00009
|
NM_020376.4(PNPLA2):c.1181C>A (p.Pro394Gln)
|
rs373114735
|
0.00009
|
NM_020533.3(MCOLN1):c.213C>T (p.Val71=)
|
rs201157863
|
0.00009
|
NM_020686.6(ABAT):c.1158G>A (p.Pro386=)
|
rs374865268
|
0.00009
|
NM_020686.6(ABAT):c.26G>A (p.Arg9His)
|
rs531783337
|
0.00009
|
NM_021922.3(FANCE):c.52C>T (p.Pro18Ser)
|
rs552241929
|
0.00009
|
NM_022098.4(XPNPEP3):c.388C>G (p.Pro130Ala)
|
rs199693203
|
0.00009
|
NM_022098.4(XPNPEP3):c.792+13T>C
|
rs376777685
|
0.00009
|
NM_022124.6(CDH23):c.3262G>A (p.Val1088Met)
|
rs200632520
|
0.00009
|
NM_022124.6(CDH23):c.7999G>C (p.Asp2667His)
|
rs200251748
|
0.00009
|
NM_022356.4(P3H1):c.327C>T (p.Phe109=)
|
rs370773974
|
0.00009
|
NM_024105.4(ALG12):c.243G>A (p.Ala81=)
|
rs564172046
|
0.00009
|
NM_024675.4(PALB2):c.2379C>T (p.Gly793=)
|
rs377626805
|
0.00009
|
NM_024685.4(BBS10):c.1333C>A (p.Leu445Ile)
|
rs199878555
|
0.00009
|
NM_025000.4(DCAF17):c.192A>G (p.Gly64=)
|
rs200189652
|
0.00009
|
NM_025099.6(CTC1):c.1958G>A (p.Arg653Gln)
|
rs775779700
|
0.00009
|
NM_025137.4(SPG11):c.1457-4A>G
|
rs773844127
|
0.00009
|
NM_025215.6(PUS1):c.207C>G (p.Leu69=)
|
rs140067992
|
0.00009
|
NM_031433.4(MFRP):c.897G>A (p.Ser299=)
|
rs150284394
|
0.00009
|
NM_031466.8(TRAPPC9):c.-24G>A
|
rs370984854
|
0.00009
|
NM_032520.5(GNPTG):c.713G>A (p.Gly238Glu)
|
rs202080062
|
0.00009
|
NM_052845.4(MMAB):c.387G>A (p.Ala129=)
|
rs549807022
|
0.00009
|
NM_052845.4(MMAB):c.561C>T (p.Ala187=)
|
rs370773720
|
0.00009
|
NM_053025.4(MYLK):c.2589G>A (p.Glu863=)
|
rs536506601
|
0.00009
|
NM_053025.4(MYLK):c.4725C>T (p.Tyr1575=)
|
rs374665486
|
0.00009
|
NM_130849.4(SLC39A4):c.1149+9C>T
|
rs139192292
|
0.00009
|
NM_130849.4(SLC39A4):c.804+9C>T
|
rs200693339
|
0.00009
|
NM_133433.4(NIPBL):c.4374T>G (p.Thr1458=)
|
rs749296628
|
0.00009
|
NM_138694.4(PKHD1):c.2162C>T (p.Thr721Met)
|
rs140608845
|
0.00009
|
NM_138694.4(PKHD1):c.2444A>G (p.Gln815Arg)
|
rs145789167
|
0.00009
|
NM_138694.4(PKHD1):c.5193G>A (p.Val1731=)
|
rs146531432
|
0.00009
|
NM_138694.4(PKHD1):c.6924C>T (p.Ala2308=)
|
rs373795139
|
0.00009
|
NM_138694.4(PKHD1):c.9714A>G (p.Gly3238=)
|
rs754654892
|
0.00009
|
NM_152296.5(ATP1A3):c.607-7C>A
|
rs782819736
|
0.00009
|
NM_152383.5(DIS3L2):c.210+10A>G
|
rs201117797
|
0.00009
|
NM_152419.3(HGSNAT):c.741G>A (p.Arg247=)
|
rs775663094
|
0.00009
|
NM_152564.5(VPS13B):c.11897A>T (p.Lys3966Ile)
|
rs117934093
|
0.00009
|
NM_152564.5(VPS13B):c.9013A>G (p.Ile3005Val)
|
rs142110082
|
0.00009
|
NM_152783.5(D2HGDH):c.567G>A (p.Pro189=)
|
rs140447217
|
0.00009
|
NM_172201.2(KCNE2):c.369_370del (p.Ter124IleextTer?)
|
rs45610936
|
0.00009
|
NM_172250.3(MMAA):c.440-6C>T
|
rs374784209
|
0.00009
|
NM_198586.3(NHLRC1):c.1091C>T (p.Ser364Leu)
|
rs78324544
|
0.00009
|
NM_199242.3(UNC13D):c.2553+12G>A
|
rs560520169
|
0.00009
|
NM_000048.4(ASL):c.1342G>A (p.Val448Ile)
|
rs139410488
|
0.00008
|
NM_000059.4(BRCA2):c.506A>G (p.Lys169Arg)
|
rs80358730
|
0.00008
|
NM_000059.4(BRCA2):c.517-4C>G
|
rs81002804
|
0.00008
|
NM_000059.4(BRCA2):c.9501+3A>T
|
rs61757642
|
0.00008
|
NM_000070.3(CAPN3):c.1045G>C (p.Glu349Gln)
|
rs146403258
|
0.00008
|
NM_000081.4(LYST):c.9520G>A (p.Val3174Ile)
|
rs199672291
|
0.00008
|
NM_000152.5(GAA):c.1265G>A (p.Arg422Gln)
|
rs2229224
|
0.00008
|
NM_000159.4(GCDH):c.1299G>A (p.Ala433=)
|
rs150271870
|
0.00008
|
NM_000179.3(MSH6):c.2281A>G (p.Arg761Gly)
|
rs199876321
|
0.00008
|
NM_000212.3(ITGB3):c.180C>T (p.Gly60=)
|
rs373101628
|
0.00008
|
NM_000251.3(MSH2):c.1488A>G (p.Leu496=)
|
rs267607960
|
0.00008
|
NM_000254.3(MTR):c.3126C>T (p.Asp1042=)
|
rs529430607
|
0.00008
|
NM_000264.5(PTCH1):c.3955C>T (p.Arg1319Cys)
|
rs375998275
|
0.00008
|
NM_000293.3(PHKB):c.932T>C (p.Val311Ala)
|
rs149685822
|
0.00008
|
NM_000312.4(PROC):c.678+10G>A
|
rs776905824
|
0.00008
|
NM_000350.3(ABCA4):c.673G>A (p.Val225Met)
|
rs540124349
|
0.00008
|
NM_000384.3(APOB):c.4929G>A (p.Ala1643=)
|
rs200623857
|
0.00008
|
NM_000417.3(IL2RA):c.584-11C>T
|
rs750468923
|
0.00008
|
NM_000417.3(IL2RA):c.693G>A (p.Glu231=)
|
rs139266750
|
0.00008
|
NM_000419.5(ITGA2B):c.671-15T>C
|
rs200877591
|
0.00008
|
NM_000466.3(PEX1):c.3637-14T>C
|
rs745612436
|
0.00008
|
NM_000527.5(LDLR):c.2358C>T (p.Ser786=)
|
rs183255090
|
0.00008
|
NM_000528.4(MAN2B1):c.2886C>T (p.Arg962=)
|
rs142797984
|
0.00008
|
NM_000532.5(PCCB):c.561C>T (p.Ser187=)
|
rs145057852
|
0.00008
|
NM_000540.3(RYR1):c.11412C>T (p.Leu3804=)
|
rs376851030
|
0.00008
|
NM_000540.3(RYR1):c.2712G>A (p.Pro904=)
|
rs139339574
|
0.00008
|
NM_000540.3(RYR1):c.8310+10A>G
|
rs372730488
|
0.00008
|
NM_000540.3(RYR1):c.8715G>C (p.Leu2905=)
|
rs368684717
|
0.00008
|
NM_000751.3(CHRND):c.411C>T (p.Gly137=)
|
rs373578965
|
0.00008
|
NM_000787.4(DBH):c.1599G>A (p.Ala533=)
|
rs377563744
|
0.00008
|
NM_000787.4(DBH):c.624C>T (p.Pro208=)
|
rs75942058
|
0.00008
|
NM_001005242.3(PKP2):c.1379-2038T>C
|
rs781397552
|
0.00008
|
NM_001018115.3(FANCD2):c.672C>T (p.His224=)
|
rs371928644
|
0.00008
|
NM_001035.3(RYR2):c.13718G>A (p.Arg4573His)
|
rs371157286
|
0.00008
|
NM_001035.3(RYR2):c.684C>T (p.Leu228=)
|
rs72549417
|
0.00008
|
NM_001035.3(RYR2):c.7158C>T (p.Asn2386=)
|
rs376057173
|
0.00008
|
NM_001035.3(RYR2):c.9619A>G (p.Asn3207Asp)
|
rs372601642
|
0.00008
|
NM_001114753.3(ENG):c.1098C>T (p.Asp366=)
|
rs201497772
|
0.00008
|
NM_001134363.3(RBM20):c.3549C>T (p.Ser1183=)
|
rs575854668
|
0.00008
|
NM_001134363.3(RBM20):c.849C>T (p.Tyr283=)
|
rs187423999
|
0.00008
|
NM_001142800.2(EYS):c.1107C>T (p.Ser369=)
|
rs755023434
|
0.00008
|
NM_001164508.2(NEB):c.3416C>T (p.Thr1139Met)
|
rs181244403
|
0.00008
|
NM_001277115.2(DNAH11):c.11081A>T (p.Asn3694Ile)
|
rs528354205
|
0.00008
|
NM_001277115.2(DNAH11):c.4012-8G>A
|
rs374349753
|
0.00008
|
NM_001330078.2(NRXN1):c.3364+9C>T
|
rs200767650
|
0.00008
|
NM_001355436.2(SPTB):c.3624G>A (p.Arg1208=)
|
rs200385949
|
0.00008
|
NM_001355436.2(SPTB):c.3780C>T (p.Asn1260=)
|
rs191583247
|
0.00008
|
NM_001365304.2(LOC112694756):c.*622-5C>T
|
rs752764982
|
0.00008
|
NM_001365536.1(SCN9A):c.213G>A (p.Val71=)
|
rs200240989
|
0.00008
|
NM_001375808.2(LPIN2):c.1395C>T (p.Asp465=)
|
rs143562359
|
0.00008
|
NM_001376.5(DYNC1H1):c.13157A>G (p.Asn4386Ser)
|
rs201575292
|
0.00008
|
NM_001376.5(DYNC1H1):c.6030G>A (p.Pro2010=)
|
rs202004938
|
0.00008
|
NM_001376.5(DYNC1H1):c.9531G>A (p.Leu3177=)
|
rs531438720
|
0.00008
|
NM_001395413.1(POR):c.1944T>G (p.Ala648=)
|
rs370865328
|
0.00008
|
NM_001457.4(FLNB):c.6210C>T (p.Ile2070=)
|
rs538937637
|
0.00008
|
NM_001457.4(FLNB):c.6666C>T (p.Gly2222=)
|
rs144628013
|
0.00008
|
NM_001875.5(CPS1):c.528+9A>G
|
rs369476447
|
0.00008
|
NM_001953.5(TYMP):c.1137G>A (p.Glu379=)
|
rs764142194
|
0.00008
|
NM_001999.4(FBN2):c.7212C>T (p.Leu2404=)
|
rs368506842
|
0.00008
|
NM_002292.4(LAMB2):c.2489-7C>T
|
rs374958213
|
0.00008
|
NM_002529.4(NTRK1):c.509T>C (p.Val170Ala)
|
rs201503610
|
0.00008
|
NM_002778.4(PSAP):c.1456C>T (p.His486Tyr)
|
rs749660716
|
0.00008
|
NM_003119.4(SPG7):c.2083C>G (p.Leu695Val)
|
rs754203248
|
0.00008
|
NM_003331.5(TYK2):c.372T>C (p.Arg124=)
|
rs371832787
|
0.00008
|
NM_003331.5(TYK2):c.489C>T (p.Asp163=)
|
rs748475805
|
0.00008
|
NM_003331.5(TYK2):c.783C>G (p.Ala261=)
|
rs371939297
|
0.00008
|
NM_003560.4(PLA2G6):c.895-11G>A
|
rs371094406
|
0.00008
|
NM_003849.4(SUCLG1):c.590-6G>A
|
rs200107730
|
0.00008
|
NM_003924.4(PHOX2B):c.729A>G (p.Ala243=)
|
rs751829128
|
0.00008
|
NM_003982.4(SLC7A7):c.123C>T (p.Asn41=)
|
rs367673752
|
0.00008
|
NM_004304.5(ALK):c.3362G>A (p.Gly1121Asp)
|
rs55760835
|
0.00008
|
NM_005198.5(CHKB):c.708C>T (p.Val236=)
|
rs141934594
|
0.00008
|
NM_005327.7(HADH):c.240G>A (p.Lys80=)
|
rs748623569
|
0.00008
|
NM_005609.4(PYGM):c.1110G>A (p.Val370=)
|
rs372719040
|
0.00008
|
NM_005908.4(MANBA):c.2311G>T (p.Val771Phe)
|
rs201779762
|
0.00008
|
NM_006031.6(PCNT):c.406G>A (p.Gly136Ser)
|
rs59183158
|
0.00008
|
NM_006348.5(COG5):c.768A>T (p.Leu256Phe)
|
rs376958885
|
0.00008
|
NM_006949.4(STXBP2):c.333C>T (p.Pro111=)
|
rs144233139
|
0.00008
|
NM_007375.4(TARDBP):c.36C>T (p.Asn12=)
|
rs565091566
|
0.00008
|
NM_012203.2(GRHPR):c.543G>C (p.Leu181=)
|
rs370395134
|
0.00008
|
NM_013247.5(HTRA2):c.1131A>G (p.Leu377=)
|
rs758108369
|
0.00008
|
NM_014141.6(CNTNAP2):c.939+8T>A
|
rs199994339
|
0.00008
|
NM_014339.7(IL17RA):c.2466G>A (p.Gly822=)
|
rs373070776
|
0.00008
|
NM_014363.6(SACS):c.1912T>G (p.Cys638Gly)
|
rs200333323
|
0.00008
|
NM_014384.3(ACAD8):c.841+9C>T
|
rs777635296
|
0.00008
|
NM_014855.3(AP5Z1):c.1938+11C>T
|
rs201888478
|
0.00008
|
NM_017534.6(MYH2):c.4149G>A (p.Thr1383=)
|
rs376738763
|
0.00008
|
NM_017636.4(TRPM4):c.2020-4A>C
|
rs369498574
|
0.00008
|
NM_017636.4(TRPM4):c.2085C>T (p.Leu695=)
|
rs781191851
|
0.00008
|
NM_018100.4(EFHC1):c.779G>A (p.Arg260Gln)
|
rs145754721
|
0.00008
|
NM_019844.4(SLCO1B3):c.459A>G (p.Thr153=)
|
rs370334648
|
0.00008
|
NM_020975.6(RET):c.1879+13C>T
|
rs375573788
|
0.00008
|
NM_020975.6(RET):c.2081G>A (p.Arg694Gln)
|
rs141185224
|
0.00008
|
NM_022124.6(CDH23):c.5442C>T (p.Ile1814=)
|
rs373768157
|
0.00008
|
NM_025000.4(DCAF17):c.27G>A (p.Val9=)
|
rs570110822
|
0.00008
|
NM_025099.6(CTC1):c.1946-6C>T
|
rs369285521
|
0.00008
|
NM_025099.6(CTC1):c.195T>C (p.Tyr65=)
|
rs764616648
|
0.00008
|
NM_031433.4(MFRP):c.705C>T (p.Phe235=)
|
rs34190279
|
0.00008
|
NM_031433.4(MFRP):c.861C>T (p.Asp287=)
|
rs140710522
|
0.00008
|
NM_032520.5(GNPTG):c.489C>T (p.Phe163=)
|
rs370857842
|
0.00008
|
NM_033305.3(VPS13A):c.5786A>G (p.Asn1929Ser)
|
rs748876393
|
0.00008
|
NM_052845.4(MMAB):c.584+15G>A
|
rs750655720
|
0.00008
|
NM_052845.4(MMAB):c.644+7G>A
|
rs147637814
|
0.00008
|
NM_052989.3(IFT122):c.2721G>A (p.Ala907=)
|
rs371570973
|
0.00008
|
NM_053025.4(MYLK):c.1212C>A (p.Pro404=)
|
rs765597431
|
0.00008
|
NM_053025.4(MYLK):c.3897C>T (p.Ala1299=)
|
rs553472487
|
0.00008
|
NM_133433.4(NIPBL):c.6312A>G (p.Lys2104=)
|
rs147865925
|
0.00008
|
NM_138694.4(PKHD1):c.4009G>A (p.Asp1337Asn)
|
rs373255125
|
0.00008
|
NM_152383.5(DIS3L2):c.1205-12G>A
|
rs779551518
|
0.00008
|
NM_152564.5(VPS13B):c.8244G>A (p.Ser2748=)
|
rs182347753
|
0.00008
|
NM_153006.3(NAGS):c.722T>C (p.Val241Ala)
|
rs201142696
|
0.00008
|
NM_170707.4(LMNA):c.471G>A (p.Thr157=)
|
rs150645079
|
0.00008
|
NM_198525.3(KIF7):c.3225G>A (p.Ser1075=)
|
rs375802364
|
0.00008
|
NM_201384.3(PLEC):c.342+7C>T
|
rs367808541
|
0.00008
|
NM_000017.4(ACADS):c.327C>T (p.Cys109=)
|
rs144083614
|
0.00007
|
NM_000018.4(ACADVL):c.205-7T>C
|
rs760625298
|
0.00007
|
NM_000018.4(ACADVL):c.205-8C>G
|
rs774353448
|
0.00007
|
NM_000019.4(ACAT1):c.239-8T>A
|
rs202030208
|
0.00007
|
NM_000033.4(ABCD1):c.1914C>T (p.Asp638=)
|
rs199723613
|
0.00007
|
NM_000038.6(APC):c.8389A>G (p.Ser2797Gly)
|
rs147287751
|
0.00007
|
NM_000053.4(ATP7B):c.1947-4C>T
|
rs74904335
|
0.00007
|
NM_000071.3(CBS):c.888G>A (p.Thr296=)
|
rs769593715
|
0.00007
|
NM_000080.4(CHRNE):c.1446G>A (p.Val482=)
|
rs376713095
|
0.00007
|
NM_000098.3(CPT2):c.1202G>T (p.Ser401Ile)
|
rs146670074
|
0.00007
|
NM_000098.3(CPT2):c.84C>T (p.Gly28=)
|
rs772541454
|
0.00007
|
NM_000100.4(CSTB):c.45G>A (p.Glu15=)
|
rs1057521317
|
0.00007
|
NM_000132.4(F8):c.1094A>G (p.Tyr365Cys)
|
rs375241473
|
0.00007
|
NM_000135.4(FANCA):c.1573A>G (p.Ile525Val)
|
rs755925068
|
0.00007
|
NM_000156.6(GAMT):c.396C>A (p.Ile132=)
|
rs200500835
|
0.00007
|
NM_000178.4(GSS):c.1126G>A (p.Gly376Arg)
|
rs146267300
|
0.00007
|
NM_000198.4(HSD3B2):c.750T>C (p.Gly250=)
|
rs755461071
|
0.00007
|
NM_000211.5(ITGB2):c.2283C>T (p.Val761=)
|
rs192197684
|
0.00007
|
NM_000215.4(JAK3):c.2681-11G>T
|
rs201970522
|
0.00007
|
NM_000246.4(CIITA):c.1731C>T (p.Tyr577=)
|
rs142848848
|
0.00007
|
NM_000251.3(MSH2):c.1560A>G (p.Gly520=)
|
rs63750820
|
0.00007
|
NM_000286.3(PEX12):c.41C>A (p.Ala14Asp)
|
rs193253559
|
0.00007
|
NM_000295.5(SERPINA1):c.967C>T (p.Leu323=)
|
rs150455534
|
0.00007
|
NM_000343.4(SLC5A1):c.1524C>T (p.Thr508=)
|
rs201895474
|
0.00007
|
NM_000350.3(ABCA4):c.2517C>T (p.Ser839=)
|
rs138246242
|
0.00007
|
NM_000360.4(TH):c.252G>A (p.Leu84=)
|
rs758016812
|
0.00007
|
NM_000363.5(TNNI3):c.373-4C>G
|
rs2288530
|
0.00007
|
NM_000368.5(TSC1):c.2209-9C>G
|
rs118203660
|
0.00007
|
NM_000429.3(MAT1A):c.816C>T (p.Gly272=)
|
rs751778923
|
0.00007
|
NM_000455.5(STK11):c.357C>T (p.Asn119=)
|
rs372511774
|
0.00007
|
NM_000497.4(CYP11B1):c.1144C>T (p.Leu382=)
|
rs5293
|
0.00007
|
NM_000515.5(GH1):c.171+6C>T
|
rs191202934
|
0.00007
|
NM_000535.7(PMS2):c.384G>A (p.Ser128=)
|
rs371342884
|
0.00007
|
NM_000540.3(RYR1):c.10260-12C>T
|
rs779541890
|
0.00007
|
NM_000540.3(RYR1):c.11260-13C>T
|
rs540088883
|
0.00007
|
NM_000540.3(RYR1):c.12888G>C (p.Arg4296=)
|
rs571850239
|
0.00007
|
NM_000540.3(RYR1):c.5637C>T (p.Asp1879=)
|
rs143418190
|
0.00007
|
NM_000540.3(RYR1):c.7028-8G>A
|
rs147390699
|
0.00007
|
NM_000553.6(WRN):c.1302G>A (p.Thr434=)
|
rs374140086
|
0.00007
|
NM_000642.3(AGL):c.3668G>A (p.Gly1223Asp)
|
rs202046937
|
0.00007
|
NM_000784.4(CYP27A1):c.1114G>A (p.Gly372Arg)
|
rs369969903
|
0.00007
|
NM_000784.4(CYP27A1):c.702C>T (p.Pro234=)
|
rs371636461
|
0.00007
|
NM_001005242.3(PKP2):c.795G>T (p.Gly265=)
|
rs375268778
|
0.00007
|
NM_001035.3(RYR2):c.10017C>T (p.His3339=)
|
rs376439588
|
0.00007
|
NM_001035.3(RYR2):c.11766G>A (p.Glu3922=)
|
rs774625105
|
0.00007
|
NM_001040108.2(MLH3):c.3576C>T (p.Leu1192=)
|
rs376981545
|
0.00007
|
NM_001042492.3(NF1):c.1392+6A>T
|
rs200798969
|
0.00007
|
NM_001048174.2(MUTYH):c.1107G>T (p.Leu369=)
|
rs201412035
|
0.00007
|
NM_001079866.2(BCS1L):c.201C>T (p.Leu67=)
|
rs142540289
|
0.00007
|
NM_001080467.3(MYO5B):c.2644C>T (p.Arg882Trp)
|
rs777961930
|
0.00007
|
NM_001126108.2(SLC12A3):c.2857-7C>T
|
rs745327566
|
0.00007
|
NM_001130987.2(DYSF):c.2937C>T (p.Pro979=)
|
rs192717273
|
0.00007
|
NM_001130987.2(DYSF):c.3505C>T (p.Arg1169Cys)
|
rs200719174
|
0.00007
|
NM_001134363.3(RBM20):c.1053C>T (p.Asp351=)
|
rs192232825
|
0.00007
|
NM_001134363.3(RBM20):c.2244T>G (p.Ser748=)
|
rs727503388
|
0.00007
|
NM_001164508.2(NEB):c.11116A>G (p.Ile3706Val)
|
rs199551865
|
0.00007
|
NM_001164508.2(NEB):c.16817A>G (p.Tyr5606Cys)
|
rs372049328
|
0.00007
|
NM_001164508.2(NEB):c.5616G>A (p.Pro1872=)
|
rs368371414
|
0.00007
|
NM_001166114.2(PNPLA6):c.3450G>A (p.Gly1150=)
|
rs367675784
|
0.00007
|
NM_001182.5(ALDH7A1):c.200C>T (p.Thr67Met)
|
rs543181020
|
0.00007
|
NM_001276345.2(TNNT2):c.52+7G>A
|
rs374443596
|
0.00007
|
NM_001276345.2(TNNT2):c.762G>T (p.Glu254Asp)
|
rs45466197
|
0.00007
|
NM_001277115.2(DNAH11):c.1170G>A (p.Glu390=)
|
rs776924184
|
0.00007
|
NM_001277115.2(DNAH11):c.8316+7G>A
|
rs369837420
|
0.00007
|
NM_001277115.2(DNAH11):c.9103-15T>C
|
rs551974653
|
0.00007
|
NM_001360.3(DHCR7):c.840C>T (p.Tyr280=)
|
rs148468879
|
0.00007
|
NM_001365088.1(SLC12A6):c.21C>T (p.Thr7=)
|
rs146902000
|
0.00007
|
NM_001376.5(DYNC1H1):c.2376C>T (p.Cys792=)
|
rs35092963
|
0.00007
|
NM_001482.3(GATM):c.1041C>T (p.Asp347=)
|
rs139599307
|
0.00007
|
NM_001844.5(COL2A1):c.2949C>T (p.Val983=)
|
rs201719788
|
0.00007
|
NM_001845.6(COL4A1):c.4442G>A (p.Arg1481Gln)
|
rs376607450
|
0.00007
|
NM_001875.5(CPS1):c.167T>G (p.Met56Arg)
|
rs778958318
|
0.00007
|
NM_002241.5(KCNJ10):c.405C>T (p.Tyr135=)
|
rs765590257
|
0.00007
|
NM_002272.4(KRT4):c.364C>G (p.Leu122Val)
|
rs758695571
|
0.00007
|
NM_002292.4(LAMB2):c.2295C>T (p.Cys765=)
|
rs201289156
|
0.00007
|
NM_002292.4(LAMB2):c.795G>A (p.Glu265=)
|
rs375953746
|
0.00007
|
NM_002435.3(MPI):c.849C>T (p.Cys283=)
|
rs377419930
|
0.00007
|
NM_002474.3(MYH11):c.4681G>A (p.Ala1561Thr)
|
rs138863103
|
0.00007
|
NM_002529.4(NTRK1):c.585G>A (p.Thr195=)
|
rs182531655
|
0.00007
|
NM_002529.4(NTRK1):c.658C>T (p.Arg220Trp)
|
rs202030811
|
0.00007
|
NM_003119.4(SPG7):c.306C>T (p.Asn102=)
|
rs147397994
|
0.00007
|
NM_003172.4(SURF1):c.321C>T (p.Ala107=)
|
rs141425824
|
0.00007
|
NM_003465.3(CHIT1):c.549G>A (p.Ala183=)
|
rs371464440
|
0.00007
|
NM_003560.4(PLA2G6):c.1614C>T (p.Arg538=)
|
rs373930150
|
0.00007
|
NM_003640.5(ELP1):c.2769A>G (p.Thr923=)
|
rs370330097
|
0.00007
|
NM_003849.4(SUCLG1):c.319-8T>C
|
rs370790297
|
0.00007
|
NM_004035.7(ACOX1):c.667G>A (p.Val223Ile)
|
rs143260706
|
0.00007
|
NM_004415.4(DSP):c.3102C>T (p.Ile1034=)
|
rs569974617
|
0.00007
|
NM_004525.3(LRP2):c.1425C>T (p.Asp475=)
|
rs186484839
|
0.00007
|
NM_004656.4(BAP1):c.1749G>A (p.Ser583=)
|
rs147775249
|
0.00007
|
NM_005198.5(CHKB):c.219C>T (p.Pro73=)
|
rs751273046
|
0.00007
|
NM_005535.3(IL12RB1):c.701-6T>C
|
rs374699716
|
0.00007
|
NM_005546.4(ITK):c.139-6C>T
|
rs780173849
|
0.00007
|
NM_006005.3(WFS1):c.2119G>A (p.Val707Ile)
|
rs71524377
|
0.00007
|
NM_006019.4(TCIRG1):c.1278A>G (p.Arg426=)
|
rs138527421
|
0.00007
|
NM_006397.3(RNASEH2A):c.402C>T (p.Asn134=)
|
rs778120777
|
0.00007
|
NM_006493.4(CLN5):c.642A>T (p.Val214=)
|
rs751496223
|
0.00007
|
NM_006892.4(DNMT3B):c.720C>T (p.Pro240=)
|
rs200921151
|
0.00007
|
NM_007294.4(BRCA1):c.1865C>T (p.Ala622Val)
|
rs56039126
|
0.00007
|
NM_012275.3(IL36RN):c.436A>G (p.Ile146Val)
|
rs202059991
|
0.00007
|
NM_014000.3(VCL):c.2802C>T (p.Ala934=)
|
rs372381809
|
0.00007
|
NM_014141.6(CNTNAP2):c.645C>T (p.Asn215=)
|
rs776956365
|
0.00007
|
NM_014244.5(ADAMTS2):c.2292C>T (p.Ala764=)
|
rs188566209
|
0.00007
|
NM_014244.5(ADAMTS2):c.2970C>T (p.Thr990=)
|
rs769689633
|
0.00007
|
NM_014297.5(ETHE1):c.535C>T (p.His179Tyr)
|
rs370182416
|
0.00007
|
NM_014339.7(IL17RA):c.1475G>A (p.Arg492Lys)
|
rs770597137
|
0.00007
|
NM_014363.6(SACS):c.10909A>G (p.Met3637Val)
|
rs150309559
|
0.00007
|
NM_014363.6(SACS):c.5419G>A (p.Glu1807Lys)
|
rs375805688
|
0.00007
|
NM_014714.4(IFT140):c.1010-10C>T
|
rs376722338
|
0.00007
|
NM_014855.3(AP5Z1):c.1617G>C (p.Leu539=)
|
rs569601905
|
0.00007
|
NM_015192.4(PLCB1):c.3189-14C>T
|
rs777913912
|
0.00007
|
NM_016219.5(MAN1B1):c.1065+11T>C
|
rs200147487
|
0.00007
|
NM_016239.4(MYO15A):c.4038+6_4038+7insTG
|
rs759039332
|
0.00007
|
NM_017636.4(TRPM4):c.2779-5C>T
|
rs374639233
|
0.00007
|
NM_017636.4(TRPM4):c.483C>T (p.Gly161=)
|
rs147157308
|
0.00007
|
NM_018418.5(SPATA7):c.1216-4C>T
|
rs755958987
|
0.00007
|
NM_020686.6(ABAT):c.864C>T (p.Ala288=)
|
rs149855547
|
0.00007
|
NM_021625.5(TRPV4):c.2320C>T (p.Arg774Cys)
|
rs145102919
|
0.00007
|
NM_022356.4(P3H1):c.1626G>A (p.Thr542=)
|
rs577059613
|
0.00007
|
NM_022369.4(STRA6):c.366C>T (p.Asp122=)
|
rs147428518
|
0.00007
|
NM_024675.4(PALB2):c.2100A>T (p.Ser700=)
|
rs757145884
|
0.00007
|
NM_025000.4(DCAF17):c.1266+6G>A
|
rs557741620
|
0.00007
|
NM_025000.4(DCAF17):c.1422+14G>A
|
rs368707741
|
0.00007
|
NM_025137.4(SPG11):c.3038+14A>G
|
rs774593393
|
0.00007
|
NM_025243.4(SLC19A3):c.481T>C (p.Leu161=)
|
rs375099581
|
0.00007
|
NM_032520.5(GNPTG):c.394C>T (p.Arg132Trp)
|
rs200741370
|
0.00007
|
NM_052872.4(IL17F):c.243C>G (p.Pro81=)
|
rs769617558
|
0.00007
|
NM_053025.4(MYLK):c.1651+7T>C
|
rs758327487
|
0.00007
|
NM_053025.4(MYLK):c.2120A>G (p.Gln707Arg)
|
rs201615936
|
0.00007
|
NM_054012.4(ASS1):c.174+10G>A
|
rs371597908
|
0.00007
|
NM_080424.4(SP110):c.237T>G (p.Ser79=)
|
rs202135641
|
0.00007
|
NM_138694.4(PKHD1):c.11007G>A (p.Ser3669=)
|
rs142855690
|
0.00007
|
NM_138694.4(PKHD1):c.3629-15G>A
|
rs375870003
|
0.00007
|
NM_144997.7(FLCN):c.552C>A (p.Asn184Lys)
|
rs143525924
|
0.00007
|
NM_152383.5(DIS3L2):c.1908C>T (p.Ser636=)
|
rs778830625
|
0.00007
|
NM_152383.5(DIS3L2):c.2067C>T (p.Tyr689=)
|
rs186340144
|
0.00007
|
NM_174936.4(PCSK9):c.1206C>T (p.Ala402=)
|
rs200091654
|
0.00007
|
NM_174936.4(PCSK9):c.799+8A>G
|
rs748933873
|
0.00007
|
NM_198904.4(GABRG2):c.135C>T (p.Asp45=)
|
rs375308385
|
0.00007
|
NM_199242.3(UNC13D):c.2241C>T (p.Ser747=)
|
rs372453702
|
0.00007
|
NM_199242.3(UNC13D):c.273G>A (p.Val91=)
|
rs149494974
|
0.00007
|
NM_000016.6(ACADM):c.582C>T (p.Asn194=)
|
rs778535261
|
0.00006
|
NM_000017.4(ACADS):c.624+11C>T
|
rs763811046
|
0.00006
|
NM_000022.4(ADA):c.375C>G (p.Thr125=)
|
rs766539394
|
0.00006
|
NM_000022.4(ADA):c.927G>A (p.Gln309=)
|
rs139871719
|
0.00006
|
NM_000027.4(AGA):c.623-13T>G
|
rs778434616
|
0.00006
|
NM_000035.4(ALDOB):c.849C>T (p.Asn283=)
|
rs202062631
|
0.00006
|
NM_000037.4(ANK1):c.4105-5T>G
|
rs768183148
|
0.00006
|
NM_000038.6(APC):c.2110G>A (p.Val704Ile)
|
rs367804502
|
0.00006
|
NM_000038.6(APC):c.5140G>A (p.Asp1714Asn)
|
rs148275069
|
0.00006
|
NM_000038.6(APC):c.7929A>G (p.Leu2643=)
|
rs138796072
|
0.00006
|
NM_000038.6(APC):c.8107A>G (p.Lys2703Glu)
|
rs730881270
|
0.00006
|
NM_000048.4(ASL):c.401G>A (p.Gly134Asp)
|
rs201352504
|
0.00006
|
NM_000051.4(ATM):c.3577-13T>C
|
rs587780856
|
0.00006
|
NM_000051.4(ATM):c.610G>A (p.Gly204Arg)
|
rs147915571
|
0.00006
|
NM_000053.4(ATP7B):c.2190C>T (p.Asp730=)
|
rs550565277
|
0.00006
|
NM_000053.4(ATP7B):c.3160A>C (p.Arg1054=)
|
rs377586515
|
0.00006
|
NM_000053.4(ATP7B):c.325C>T (p.Leu109=)
|
rs751920801
|
0.00006
|
NM_000053.4(ATP7B):c.4251A>G (p.Thr1417=)
|
rs546721020
|
0.00006
|
NM_000057.4(BLM):c.2475G>A (p.Pro825=)
|
rs147587050
|
0.00006
|
NM_000057.4(BLM):c.2898C>G (p.Leu966=)
|
rs201220226
|
0.00006
|
NM_000059.4(BRCA2):c.2025A>G (p.Thr675=)
|
rs147381487
|
0.00006
|
NM_000059.4(BRCA2):c.4828G>A (p.Val1610Met)
|
rs80358705
|
0.00006
|
NM_000071.3(CBS):c.1161C>T (p.Ser387=)
|
rs149280976
|
0.00006
|
NM_000071.3(CBS):c.1425G>A (p.Pro475=)
|
rs147885808
|
0.00006
|
NM_000071.3(CBS):c.786G>A (p.Thr262=)
|
rs551782391
|
0.00006
|
NM_000080.4(CHRNE):c.1104C>T (p.Pro368=)
|
rs767374241
|
0.00006
|
NM_000081.4(LYST):c.3030A>G (p.Gly1010=)
|
rs751511204
|
0.00006
|
NM_000081.4(LYST):c.3834G>A (p.Leu1278=)
|
rs148542548
|
0.00006
|
NM_000081.4(LYST):c.5635-4A>G
|
rs754201076
|
0.00006
|
NM_000081.4(LYST):c.7911G>A (p.Thr2637=)
|
rs140229368
|
0.00006
|
NM_000094.4(COL7A1):c.4560T>A (p.Pro1520=)
|
rs142686837
|
0.00006
|
NM_000094.4(COL7A1):c.5368G>A (p.Ala1790Thr)
|
rs780506505
|
0.00006
|
NM_000098.3(CPT2):c.1737C>T (p.Tyr579=)
|
rs957344521
|
0.00006
|
NM_000103.4(CYP19A1):c.336C>T (p.Tyr112=)
|
rs139905959
|
0.00006
|
NM_000130.5(F5):c.1106C>T (p.Ala369Val)
|
rs200934105
|
0.00006
|
NM_000130.5(F5):c.3442T>C (p.Ser1148Pro)
|
rs369276714
|
0.00006
|
NM_000135.4(FANCA):c.1756G>A (p.Ala586Thr)
|
rs201212806
|
0.00006
|
NM_000135.4(FANCA):c.3950G>A (p.Arg1317Gln)
|
rs376523966
|
0.00006
|
NM_000135.4(FANCA):c.4064A>T (p.His1355Leu)
|
rs145886270
|
0.00006
|
NM_000136.3(FANCC):c.609C>T (p.Leu203=)
|
rs567226063
|
0.00006
|
NM_000138.5(FBN1):c.5672-15C>G
|
rs776163620
|
0.00006
|
NM_000138.5(FBN1):c.7516G>A (p.Gly2506Ser)
|
rs756295016
|
0.00006
|
NM_000138.5(FBN1):c.8310C>T (p.His2770=)
|
rs112189340
|
0.00006
|
NM_000141.5(FGFR2):c.201C>T (p.Ala67=)
|
rs200386134
|
0.00006
|
NM_000143.4(FH):c.12A>G (p.Ala4=)
|
rs201277370
|
0.00006
|
NM_000151.4(G6PC1):c.18T>C (p.Asn6=)
|
rs144652516
|
0.00006
|
NM_000152.5(GAA):c.1195-15G>A
|
rs373840229
|
0.00006
|
NM_000152.5(GAA):c.1356C>T (p.Ala452=)
|
rs757893858
|
0.00006
|
NM_000152.5(GAA):c.1823G>A (p.Arg608Gln)
|
rs377126280
|
0.00006
|
NM_000152.5(GAA):c.2800-11C>G
|
rs374571499
|
0.00006
|
NM_000153.4(GALC):c.120C>T (p.Gly40=)
|
rs532800656
|
0.00006
|
NM_000153.4(GALC):c.18C>G (p.Leu6=)
|
rs886038260
|
0.00006
|
NM_000154.2(GALK1):c.165+6G>A
|
rs779996721
|
0.00006
|
NM_000155.4(GALT):c.1128A>T (p.Ala376=)
|
rs781374930
|
0.00006
|
NM_000155.4(GALT):c.211C>T (p.Leu71Phe)
|
rs143994870
|
0.00006
|
NM_000156.6(GAMT):c.670G>A (p.Ala224Thr)
|
rs141471799
|
0.00006
|
NM_000158.4(GBE1):c.1406A>G (p.Tyr469Cys)
|
rs760661724
|
0.00006
|
NM_000159.4(GCDH):c.885C>T (p.Tyr295=)
|
rs139192015
|
0.00006
|
NM_000170.3(GLDC):c.2028C>T (p.Ile676=)
|
rs372604935
|
0.00006
|
NM_000170.3(GLDC):c.78G>C (p.Ser26=)
|
rs915226152
|
0.00006
|
NM_000179.3(MSH6):c.1050C>T (p.Ala350=)
|
rs730881802
|
0.00006
|
NM_000179.3(MSH6):c.3478G>A (p.Val1160Ile)
|
rs376799914
|
0.00006
|
NM_000186.4(CFH):c.2196G>A (p.Thr732=)
|
rs144325643
|
0.00006
|
NM_000186.4(CFH):c.3310+12T>C
|
rs757045842
|
0.00006
|
NM_000187.4(HGD):c.550-14G>C
|
rs769000073
|
0.00006
|
NM_000199.5(SGSH):c.1302G>A (p.Ala434=)
|
rs376787615
|
0.00006
|
NM_000199.5(SGSH):c.432C>T (p.Ser144=)
|
rs200194908
|
0.00006
|
NM_000203.5(IDUA):c.1800G>A (p.Ser600=)
|
rs763047621
|
0.00006
|
NM_000211.5(ITGB2):c.681C>T (p.Ser227=)
|
rs369981986
|
0.00006
|
NM_000211.5(ITGB2):c.768G>A (p.Thr256=)
|
rs201148219
|
0.00006
|
NM_000211.5(ITGB2):c.849C>T (p.Asp283=)
|
rs35013643
|
0.00006
|
NM_000215.4(JAK3):c.1184G>A (p.Arg395His)
|
rs143038064
|
0.00006
|
NM_000238.4(KCNH2):c.3153-13C>T
|
rs372337645
|
0.00006
|
NM_000243.3(MEFV):c.2049G>A (p.Ser683=)
|
rs104895092
|
0.00006
|
NM_000243.3(MEFV):c.549G>A (p.Pro183=)
|
rs587781035
|
0.00006
|
NM_000246.4(CIITA):c.1006+12G>A
|
rs368964652
|
0.00006
|
NM_000246.4(CIITA):c.1944A>T (p.Ala648=)
|
rs778678693
|
0.00006
|
NM_000246.4(CIITA):c.384C>T (p.Ile128=)
|
rs140106499
|
0.00006
|
NM_000251.3(MSH2):c.2400A>G (p.Leu800=)
|
rs201298777
|
0.00006
|
NM_000257.4(MYH7):c.2028T>C (p.Asn676=)
|
rs145564868
|
0.00006
|
NM_000263.4(NAGLU):c.1272C>T (p.Asn424=)
|
rs200715586
|
0.00006
|
NM_000270.4(PNP):c.645C>T (p.Asp215=)
|
rs369193020
|
0.00006
|
NM_000271.5(NPC1):c.1479C>T (p.Ser493=)
|
rs148078801
|
0.00006
|
NM_000271.5(NPC1):c.3012G>A (p.Ser1004=)
|
rs182413311
|
0.00006
|
NM_000275.3(OCA2):c.2043C>G (p.Thr681=)
|
rs368126732
|
0.00006
|
NM_000293.3(PHKB):c.2136G>A (p.Pro712=)
|
rs200274360
|
0.00006
|
NM_000294.3(PHKG2):c.318G>T (p.Val106=)
|
rs199743139
|
0.00006
|
NM_000295.5(SERPINA1):c.6G>A (p.Pro2=)
|
rs200936638
|
0.00006
|
NM_000303.3(PMM2):c.640-12G>A
|
rs375325546
|
0.00006
|
NM_000350.3(ABCA4):c.2743+12A>C
|
rs559119402
|
0.00006
|
NM_000350.3(ABCA4):c.3523-9C>G
|
rs374302531
|
0.00006
|
NM_000350.3(ABCA4):c.5197-4C>T
|
rs758825834
|
0.00006
|
NM_000353.3(TAT):c.231C>A (p.Ser77=)
|
rs562235592
|
0.00006
|
NM_000359.3(TGM1):c.1761C>T (p.Asp587=)
|
rs751201972
|
0.00006
|
NM_000360.4(TH):c.1228C>A (p.Arg410=)
|
rs575326605
|
0.00006
|
NM_000360.4(TH):c.263C>T (p.Pro88Leu)
|
rs150260759
|
0.00006
|
NM_000363.5(TNNI3):c.139T>C (p.Leu47=)
|
rs587780967
|
0.00006
|
NM_000368.5(TSC1):c.1047A>G (p.Pro349=)
|
rs118203492
|
0.00006
|
NM_000417.3(IL2RA):c.584-6C>T
|
rs201675947
|
0.00006
|
NM_000419.5(ITGA2B):c.2862G>A (p.Val954=)
|
rs201119421
|
0.00006
|
NM_000426.4(LAMA2):c.4157A>T (p.Tyr1386Phe)
|
rs560139751
|
0.00006
|
NM_000426.4(LAMA2):c.7344T>C (p.Asn2448=)
|
rs199931560
|
0.00006
|
NM_000429.3(MAT1A):c.204T>C (p.Cys68=)
|
rs200574801
|
0.00006
|
NM_000429.3(MAT1A):c.550-5G>A
|
rs761943871
|
0.00006
|
NM_000439.5(PCSK1):c.1764G>A (p.Lys588=)
|
rs538803955
|
0.00006
|
NM_000466.3(PEX1):c.1042A>G (p.Thr348Ala)
|
rs371309198
|
0.00006
|
NM_000466.3(PEX1):c.2842C>T (p.Arg948Trp)
|
rs374167385
|
0.00006
|
NM_000466.3(PEX1):c.2927-12T>A
|
rs375062546
|
0.00006
|
NM_000481.4(AMT):c.91-9C>T
|
rs761235679
|
0.00006
|
NM_000484.4(APP):c.1458+9C>T
|
rs201937048
|
0.00006
|
NM_000487.6(ARSA):c.225-5C>T
|
rs192013394
|
0.00006
|
NM_000487.6(ARSA):c.918G>A (p.Thr306=)
|
rs370250328
|
0.00006
|
NM_000492.4(CFTR):c.3429G>A (p.Leu1143=)
|
rs375845215
|
0.00006
|
NM_000492.4(CFTR):c.4296C>T (p.Asn1432=)
|
rs761669740
|
0.00006
|
NM_000506.5(F2):c.1815T>C (p.His605=)
|
rs368442575
|
0.00006
|
NM_000512.5(GALNS):c.1071G>A (p.Pro357=)
|
rs374619390
|
0.00006
|
NM_000512.5(GALNS):c.1186G>A (p.Gly396Arg)
|
rs371459975
|
0.00006
|
NM_000512.5(GALNS):c.1269C>T (p.Asn423=)
|
rs148709901
|
0.00006
|
NM_000512.5(GALNS):c.665G>A (p.Arg222Gln)
|
rs140162658
|
0.00006
|
NM_000521.4(HEXB):c.1269A>G (p.Val423=)
|
rs746407358
|
0.00006
|
NM_000527.5(LDLR):c.1988-5C>G
|
rs375877599
|
0.00006
|
NM_000527.5(LDLR):c.233G>A (p.Arg78His)
|
rs146675823
|
0.00006
|
NM_000528.4(MAN2B1):c.2007G>A (p.Pro669=)
|
rs762152042
|
0.00006
|
NM_000540.3(RYR1):c.10938-11C>T
|
rs760754746
|
0.00006
|
NM_000540.3(RYR1):c.13350G>A (p.Gly4450=)
|
rs748743312
|
0.00006
|
NM_000540.3(RYR1):c.2356G>A (p.Val786Ile)
|
rs369281291
|
0.00006
|
NM_000540.3(RYR1):c.2844C>T (p.Asn948=)
|
rs761045773
|
0.00006
|
NM_000540.3(RYR1):c.4038C>A (p.Asn1346Lys)
|
rs777049924
|
0.00006
|
NM_000540.3(RYR1):c.4620+13C>T
|
rs201971363
|
0.00006
|
NM_000540.3(RYR1):c.5385G>C (p.Pro1795=)
|
rs772422894
|
0.00006
|
NM_000540.3(RYR1):c.6302T>A (p.Met2101Lys)
|
rs746818096
|
0.00006
|
NM_000540.3(RYR1):c.7344T>C (p.Gly2448=)
|
rs199813873
|
0.00006
|
NM_000540.3(RYR1):c.9555-10C>T
|
rs774666035
|
0.00006
|
NM_000543.5(SMPD1):c.1632C>T (p.Thr544=)
|
rs201659696
|
0.00006
|
NM_000546.6(TP53):c.1015G>A (p.Glu339Lys)
|
rs17882252
|
0.00006
|
NM_000642.3(AGL):c.609A>G (p.Lys203=)
|
rs186709388
|
0.00006
|
NM_000751.3(CHRND):c.1127G>A (p.Arg376Gln)
|
rs749866545
|
0.00006
|
NM_000784.4(CYP27A1):c.536A>G (p.Asn179Ser)
|
rs145080072
|
0.00006
|
NM_000784.4(CYP27A1):c.712G>A (p.Val238Met)
|
rs199691576
|
0.00006
|
NM_000925.4(PDHB):c.937C>G (p.Pro313Ala)
|
rs201105914
|
0.00006
|
NM_001032386.2(SUOX):c.50+9G>A
|
rs368327991
|
0.00006
|
NM_001035.3(RYR2):c.2772G>A (p.Leu924=)
|
rs780664060
|
0.00006
|
NM_001035.3(RYR2):c.5614G>A (p.Asp1872Asn)
|
rs761770946
|
0.00006
|
NM_001035.3(RYR2):c.848+8G>C
|
rs373075790
|
0.00006
|
NM_001039958.2(MESP2):c.561G>A (p.Gly187=)
|
rs767474985
|
0.00006
|
NM_001040108.2(MLH3):c.277C>G (p.Arg93Gly)
|
rs28756978
|
0.00006
|
NM_001040716.2(PC):c.1589C>T (p.Pro530Leu)
|
rs370248734
|
0.00006
|
NM_001048174.2(MUTYH):c.305-13C>G
|
rs201207780
|
0.00006
|
NM_001048174.2(MUTYH):c.729C>T (p.Asp243=)
|
rs730881838
|
0.00006
|
NM_001080.3(ALDH5A1):c.525C>T (p.Tyr175=)
|
rs372455508
|
0.00006
|
NM_001081.4(CUBN):c.2120G>A (p.Arg707His)
|
rs763524933
|
0.00006
|
NM_001082971.2(DDC):c.315+11G>A
|
rs753275419
|
0.00006
|
NM_001082971.2(DDC):c.816A>C (p.Ala272=)
|
rs767990522
|
0.00006
|
NM_001083116.3(PRF1):c.189A>C (p.Thr63=)
|
rs759983785
|
0.00006
|
NM_001089.3(ABCA3):c.2415-4T>G
|
rs201775187
|
0.00006
|
NM_001101426.4(CRPPA):c.551G>A (p.Arg184Gln)
|
rs773739293
|
0.00006
|
NM_001103.4(ACTN2):c.2568G>A (p.Pro856=)
|
rs149554430
|
0.00006
|
NM_001113525.2(ZNF276):c.*2634C>T
|
rs34476949
|
0.00006
|
NM_001114134.2(EPB42):c.1075+7C>A
|
rs761030391
|
0.00006
|
NM_001114753.3(ENG):c.1852+42C>T
|
rs779974705
|
0.00006
|
NM_001126108.2(SLC12A3):c.2793C>T (p.Asn931=)
|
rs13306666
|
0.00006
|
NM_001127255.2(NLRP7):c.531C>T (p.His177=)
|
rs746150420
|
0.00006
|
NM_001130987.2(DYSF):c.1370C>T (p.Ala457Val)
|
rs146588926
|
0.00006
|
NM_001130987.2(DYSF):c.4608G>T (p.Lys1536Asn)
|
rs182185801
|
0.00006
|
NM_001130987.2(DYSF):c.799G>A (p.Val267Met)
|
rs750724439
|
0.00006
|
NM_001134363.3(RBM20):c.1161G>A (p.Ala387=)
|
rs374299043
|
0.00006
|
NM_001134363.3(RBM20):c.2018G>A (p.Arg673Gln)
|
rs138926584
|
0.00006
|
NM_001134363.3(RBM20):c.2579A>G (p.Glu860Gly)
|
rs758720475
|
0.00006
|
NM_001134407.3(GRIN2A):c.2909G>A (p.Arg970Gln)
|
rs148669437
|
0.00006
|
NM_001160372.4(TRAPPC9):c.2245C>T (p.Leu749=)
|
rs375545861
|
0.00006
|
NM_001164508.2(NEB):c.11717G>A (p.Arg3906His)
|
rs556930902
|
0.00006
|
NM_001164508.2(NEB):c.19535T>C (p.Ile6512Thr)
|
rs751483486
|
0.00006
|
NM_001164508.2(NEB):c.20228G>A (p.Arg6743His)
|
rs755370356
|
0.00006
|
NM_001164508.2(NEB):c.21215A>G (p.Tyr7072Cys)
|
rs763554121
|
0.00006
|
NM_001164508.2(NEB):c.22037A>T (p.Asn7346Ile)
|
rs140982447
|
0.00006
|
NM_001164508.2(NEB):c.22187A>G (p.Lys7396Arg)
|
rs201548700
|
0.00006
|
NM_001164508.2(NEB):c.23048T>C (p.Ile7683Thr)
|
rs374941096
|
0.00006
|
NM_001164508.2(NEB):c.23051G>A (p.Arg7684His)
|
rs372699411
|
0.00006
|
NM_001164508.2(NEB):c.5301G>A (p.Pro1767=)
|
rs150496369
|
0.00006
|
NM_001164508.2(NEB):c.7441A>G (p.Arg2481Gly)
|
rs149430473
|
0.00006
|
NM_001164508.2(NEB):c.7953C>T (p.Ser2651=)
|
rs183764569
|
0.00006
|
NM_001173990.3(TMEM216):c.420T>C (p.Ala140=)
|
rs749351351
|
0.00006
|
NM_001182.5(ALDH7A1):c.1016A>G (p.His339Arg)
|
rs199767457
|
0.00006
|
NM_001243177.4(ALDOA):c.1107C>T (p.Gly369=)
|
rs142315181
|
0.00006
|
NM_001256545.2(MEGF10):c.417C>T (p.Cys139=)
|
rs148349018
|
0.00006
|
NM_001267550.2(TTN):c.76922G>A (p.Arg25641His)
|
rs369707906
|
0.00006
|
NM_001276345.2(TNNT2):c.601-8C>T
|
rs397516475
|
0.00006
|
NM_001277115.2(DNAH11):c.2328G>A (p.Thr776=)
|
rs372387032
|
0.00006
|
NM_001330078.2(NRXN1):c.2253A>G (p.Ala751=)
|
rs199648817
|
0.00006
|
NM_001330078.2(NRXN1):c.4004C>T (p.Thr1335Ile)
|
rs200672080
|
0.00006
|
NM_001330078.2(NRXN1):c.4248G>A (p.Pro1416=)
|
rs151195816
|
0.00006
|
NM_001352514.2(HLCS):c.2352C>T (p.Ile784=)
|
rs150263699
|
0.00006
|
NM_001365536.1(SCN9A):c.5379G>A (p.Ala1793=)
|
rs201875421
|
0.00006
|
NM_001368894.2(PAX6):c.-368G>A
|
rs886048206
|
0.00006
|
NM_001375808.2(LPIN2):c.1888G>A (p.Gly630Ser)
|
rs148607670
|
0.00006
|
NM_001376.5(DYNC1H1):c.9155A>G (p.Lys3052Arg)
|
rs774806132
|
0.00006
|
NM_001377.3(DYNC2H1):c.2005A>G (p.Lys669Glu)
|
rs189533535
|
0.00006
|
NM_001378964.1(CDON):c.2836T>C (p.Leu946=)
|
rs144054280
|
0.00006
|
NM_001384474.1(LOXHD1):c.6252C>T (p.His2084=)
|
rs753440039
|
0.00006
|
NM_001386140.1(MTTP):c.915G>A (p.Ser305=)
|
rs199716549
|
0.00006
|
NM_001395413.1(POR):c.229-5C>T
|
rs782035827
|
0.00006
|
NM_001395413.1(POR):c.420C>T (p.Tyr140=)
|
rs368468521
|
0.00006
|
NM_001395413.1(POR):c.504C>T (p.Phe168=)
|
rs372715546
|
0.00006
|
NM_001457.4(FLNB):c.1688T>C (p.Ile563Thr)
|
rs145891515
|
0.00006
|
NM_001457.4(FLNB):c.3138C>T (p.His1046=)
|
rs371901421
|
0.00006
|
NM_001457.4(FLNB):c.7164C>T (p.Ser2388=)
|
rs757418085
|
0.00006
|
NM_001540.5(HSPB1):c.210G>A (p.Ala70=)
|
rs749963653
|
0.00006
|
NM_001875.5(CPS1):c.1478C>T (p.Thr493Ile)
|
rs199878637
|
0.00006
|
NM_001875.5(CPS1):c.4173G>A (p.Thr1391=)
|
rs201710257
|
0.00006
|
NM_001943.5(DSG2):c.15G>C (p.Pro5=)
|
rs772663614
|
0.00006
|
NM_001999.4(FBN2):c.2508G>A (p.Thr836=)
|
rs372872626
|
0.00006
|
NM_001999.4(FBN2):c.7808T>C (p.Phe2603Ser)
|
rs374507398
|
0.00006
|
NM_002103.5(GYS1):c.1332C>T (p.Cys444=)
|
rs377125421
|
0.00006
|
NM_002225.5(IVD):c.784+13G>A
|
rs369694967
|
0.00006
|
NM_002241.5(KCNJ10):c.1047C>T (p.Tyr349=)
|
rs368537434
|
0.00006
|
NM_002292.4(LAMB2):c.915+6G>A
|
rs2071677
|
0.00006
|
NM_002474.3(MYH11):c.3897C>T (p.Ala1299=)
|
rs190546350
|
0.00006
|
NM_002506.3(NGF):c.552C>T (p.Pro184=)
|
rs532714783
|
0.00006
|
NM_002529.4(NTRK1):c.1522C>A (p.Arg508=)
|
rs200575096
|
0.00006
|
NM_002529.4(NTRK1):c.575-15G>A
|
rs762788551
|
0.00006
|
NM_002529.4(NTRK1):c.850+11G>A
|
rs372293237
|
0.00006
|
NM_002617.4(PEX10):c.555C>T (p.His185=)
|
rs75377471
|
0.00006
|
NM_002633.3(PGM1):c.442T>G (p.Phe148Val)
|
rs755467080
|
0.00006
|
NM_002693.3(POLG):c.1743C>T (p.Asp581=)
|
rs140743000
|
0.00006
|
NM_002693.3(POLG):c.2601T>C (p.Pro867=)
|
rs201749977
|
0.00006
|
NM_002778.4(PSAP):c.1000A>T (p.Thr334Ser)
|
rs749663645
|
0.00006
|
NM_002778.4(PSAP):c.227T>A (p.Met76Lys)
|
rs377024801
|
0.00006
|
NM_002778.4(PSAP):c.249+6C>T
|
rs774663731
|
0.00006
|
NM_002857.4(PEX19):c.347-7C>T
|
rs753523567
|
0.00006
|
NM_003119.4(SPG7):c.1236G>A (p.Ala412=)
|
rs201129878
|
0.00006
|
NM_003119.4(SPG7):c.1325-6C>T
|
rs371986686
|
0.00006
|
NM_003331.5(TYK2):c.2176-9C>T
|
rs370673325
|
0.00006
|
NM_003465.3(CHIT1):c.1295G>A (p.Arg432Gln)
|
rs202003206
|
0.00006
|
NM_003466.4(PAX8):c.1028A>G (p.Asn343Ser)
|
rs374652916
|
0.00006
|
NM_003664.5(AP3B1):c.1749G>A (p.Pro583=)
|
rs201238945
|
0.00006
|
NM_003690.5(PRKRA):c.796G>A (p.Ala266Thr)
|
rs148050153
|
0.00006
|
NM_003721.4(RFXANK):c.338-13C>G
|
rs749579925
|
0.00006
|
NM_003859.3(DPM1):c.286T>C (p.Leu96=)
|
rs780244460
|
0.00006
|
NM_004100.5(EYA4):c.1338A>G (p.Leu446=)
|
rs200309400
|
0.00006
|
NM_004320.6(ATP2A1):c.1935C>T (p.Asn645=)
|
rs754620899
|
0.00006
|
NM_004415.4(DSP):c.4117A>G (p.Thr1373Ala)
|
rs200745877
|
0.00006
|
NM_004525.3(LRP2):c.630C>T (p.Asp210=)
|
rs368336310
|
0.00006
|
NM_004629.2(FANCG):c.1808C>T (p.Ser603Phe)
|
rs17878854
|
0.00006
|
NM_005518.4(HMGCS2):c.1420+13T>C
|
rs771878586
|
0.00006
|
NM_005566.4(LDHA):c.406G>A (p.Val136Ile)
|
rs184074326
|
0.00006
|
NM_005591.4(MRE11):c.777G>A (p.Gln259=)
|
rs774144789
|
0.00006
|
NM_005609.4(PYGM):c.1239+12G>A
|
rs760471706
|
0.00006
|
NM_005609.4(PYGM):c.2199C>T (p.Tyr733=)
|
rs140102591
|
0.00006
|
NM_005677.4(COLQ):c.912C>T (p.Tyr304=)
|
rs886058099
|
0.00006
|
NM_005787.6(ALG3):c.297-6T>C
|
rs371534425
|
0.00006
|
NM_006005.3(WFS1):c.1392C>T (p.Thr464=)
|
rs565697340
|
0.00006
|
NM_006005.3(WFS1):c.1580C>T (p.Thr527Ile)
|
rs372663248
|
0.00006
|
NM_006005.3(WFS1):c.1656C>T (p.Thr552=)
|
rs141477172
|
0.00006
|
NM_006005.3(WFS1):c.2208C>T (p.Gly736=)
|
rs141020933
|
0.00006
|
NM_006005.3(WFS1):c.28C>T (p.Pro10Ser)
|
rs760256649
|
0.00006
|
NM_006005.3(WFS1):c.504C>T (p.Ser168=)
|
rs71537675
|
0.00006
|
NM_006206.6(PDGFRA):c.2742G>C (p.Arg914=)
|
rs56384252
|
0.00006
|
NM_006206.6(PDGFRA):c.827C>T (p.Thr276Met)
|
rs142492533
|
0.00006
|
NM_006348.5(COG5):c.2168+9G>A
|
rs746107488
|
0.00006
|
NM_006892.4(DNMT3B):c.143-9C>G
|
rs377138079
|
0.00006
|
NM_006892.4(DNMT3B):c.1996+7A>G
|
rs556202476
|
0.00006
|
NM_006996.3(SLC19A2):c.795C>T (p.Pro265=)
|
rs201489069
|
0.00006
|
NM_007194.4(CHEK2):c.542G>A (p.Arg181His)
|
rs121908701
|
0.00006
|
NM_007294.4(BRCA1):c.1617G>A (p.Thr539=)
|
rs372002119
|
0.00006
|
NM_007294.4(BRCA1):c.3608G>A (p.Arg1203Gln)
|
rs55930959
|
0.00006
|
NM_007375.4(TARDBP):c.669C>G (p.Pro223=)
|
rs149517613
|
0.00006
|
NM_012179.4(FBXO7):c.1506T>C (p.Asn502=)
|
rs765344006
|
0.00006
|
NM_012472.6(DNAAF11):c.974+14C>A
|
rs780037666
|
0.00006
|
NM_013247.5(HTRA2):c.1056C>T (p.Ser352=)
|
rs781540048
|
0.00006
|
NM_013339.4(ALG6):c.1314T>C (p.Ile438=)
|
rs146939069
|
0.00006
|
NM_014140.4(SMARCAL1):c.927C>T (p.Ser309=)
|
rs139949668
|
0.00006
|
NM_014141.6(CNTNAP2):c.1898-9T>C
|
rs372830287
|
0.00006
|
NM_014249.4(NR2E3):c.119-8C>T
|
rs373874970
|
0.00006
|
NM_014297.5(ETHE1):c.9G>A (p.Glu3=)
|
rs773937760
|
0.00006
|
NM_014324.6(AMACR):c.247+9G>T
|
rs1361255226
|
0.00006
|
NM_014363.6(SACS):c.12216T>A (p.Thr4072=)
|
rs574182225
|
0.00006
|
NM_014363.6(SACS):c.2487C>T (p.Asp829=)
|
rs151198216
|
0.00006
|
NM_014363.6(SACS):c.9903G>T (p.Leu3301=)
|
rs563145604
|
0.00006
|
NM_014714.4(IFT140):c.2645C>T (p.Ala882Val)
|
rs200394007
|
0.00006
|
NM_014714.4(IFT140):c.3490A>G (p.Met1164Val)
|
rs369425839
|
0.00006
|
NM_014714.4(IFT140):c.3580C>G (p.Gln1194Glu)
|
rs555330165
|
0.00006
|
NM_014714.4(IFT140):c.4266C>T (p.Ala1422=)
|
rs149359139
|
0.00006
|
NM_014714.4(IFT140):c.778C>T (p.Pro260Ser)
|
rs369671309
|
0.00006
|
NM_014855.3(AP5Z1):c.417G>A (p.Ala139=)
|
rs201203264
|
0.00006
|
NM_014908.4(DOLK):c.210C>G (p.Val70=)
|
rs750368652
|
0.00006
|
NM_015166.4(MLC1):c.715-5C>A
|
rs751850836
|
0.00006
|
NM_015192.4(PLCB1):c.2112G>A (p.Leu704=)
|
rs139095432
|
0.00006
|
NM_015506.3(MMACHC):c.458G>A (p.Arg153Gln)
|
rs200276195
|
0.00006
|
NM_015702.3(MMADHC):c.515A>C (p.Lys172Thr)
|
rs147318949
|
0.00006
|
NM_016219.5(MAN1B1):c.1765-9C>T
|
rs977693376
|
0.00006
|
NM_016938.5(EFEMP2):c.363T>C (p.Cys121=)
|
rs746343857
|
0.00006
|
NM_017534.6(MYH2):c.1227C>T (p.Val409=)
|
rs563146441
|
0.00006
|
NM_017668.3(NDE1):c.948-3126G>A
|
rs377410503
|
0.00006
|
NM_017668.3(NDE1):c.948-9103C>T
|
rs202120792
|
0.00006
|
NM_017866.6(TMEM70):c.462C>A (p.Ile154=)
|
rs143954787
|
0.00006
|
NM_017882.3(CLN6):c.597C>G (p.Ala199=)
|
rs368546281
|
0.00006
|
NM_018100.4(EFHC1):c.1812A>C (p.Glu604Asp)
|
rs369503191
|
0.00006
|
NM_018249.6(CDK5RAP2):c.817G>A (p.Glu273Lys)
|
rs772591394
|
0.00006
|
NM_019892.6(INPP5E):c.1104C>T (p.His368=)
|
rs148592275
|
0.00006
|
NM_019892.6(INPP5E):c.1380C>T (p.Ser460=)
|
rs145543466
|
0.00006
|
NM_020297.4(ABCC9):c.882G>A (p.Gly294=)
|
rs764574133
|
0.00006
|
NM_020451.3(SELENON):c.732G>A (p.Pro244=)
|
rs200765195
|
0.00006
|
NM_020533.3(MCOLN1):c.1038G>A (p.Glu346=)
|
rs535704197
|
0.00006
|
NM_021625.5(TRPV4):c.963C>A (p.Gly321=)
|
rs148534854
|
0.00006
|
NM_021922.3(FANCE):c.552A>C (p.Pro184=)
|
rs138182352
|
0.00006
|
NM_021957.4(GYS2):c.1880C>T (p.Ser627Leu)
|
rs182582633
|
0.00006
|
NM_022124.6(CDH23):c.3331G>A (p.Val1111Ile)
|
rs397517321
|
0.00006
|
NM_022124.6(CDH23):c.5037C>T (p.Ile1679=)
|
rs757049933
|
0.00006
|
NM_022124.6(CDH23):c.6911G>A (p.Arg2304Gln)
|
rs201434373
|
0.00006
|
NM_022124.6(CDH23):c.9291G>T (p.Lys3097Asn)
|
rs368441850
|
0.00006
|
NM_024079.5(ALG8):c.984C>A (p.Val328=)
|
rs757467776
|
0.00006
|
NM_024589.3(ROGDI):c.822+14G>A
|
rs200558978
|
0.00006
|
NM_024685.4(BBS10):c.440A>G (p.Gln147Arg)
|
rs140585012
|
0.00006
|
NM_025099.6(CTC1):c.2472C>T (p.Pro824=)
|
rs558802130
|
0.00006
|
NM_025137.4(SPG11):c.1008-4C>T
|
rs369112409
|
0.00006
|
NM_025137.4(SPG11):c.2082C>T (p.Ser694=)
|
rs375179506
|
0.00006
|
NM_025137.4(SPG11):c.3145+12C>T
|
rs375672539
|
0.00006
|
NM_025137.4(SPG11):c.316G>A (p.Ala106Thr)
|
rs201842512
|
0.00006
|
NM_025137.4(SPG11):c.7146C>T (p.Ser2382=)
|
rs747227352
|
0.00006
|
NM_030777.4(SLC2A10):c.1605C>T (p.Ile535=)
|
rs148470005
|
0.00006
|
NM_030777.4(SLC2A10):c.599C>G (p.Pro200Arg)
|
rs75218052
|
0.00006
|
NM_030777.4(SLC2A10):c.961G>A (p.Val321Met)
|
rs372596900
|
0.00006
|
NM_031433.4(MFRP):c.898+5G>A
|
rs201089284
|
0.00006
|
NM_032043.3(BRIP1):c.1140+11G>A
|
rs369153270
|
0.00006
|
NM_032382.5(COG8):c.996C>T (p.Thr332=)
|
rs571595612
|
0.00006
|
NM_032409.3(PINK1):c.267C>T (p.Ala89=)
|
rs770933972
|
0.00006
|
NM_052845.4(MMAB):c.150G>A (p.Ser50=)
|
rs754357121
|
0.00006
|
NM_052989.3(IFT122):c.1758C>G (p.His586Gln)
|
rs141889207
|
0.00006
|
NM_053025.4(MYLK):c.1752A>G (p.Leu584=)
|
rs775877814
|
0.00006
|
NM_053025.4(MYLK):c.2049G>A (p.Gln683=)
|
rs757464897
|
0.00006
|
NM_080680.3(COL11A2):c.2271C>T (p.Gly757=)
|
rs745568808
|
0.00006
|
NM_130849.4(SLC39A4):c.1323T>C (p.His441=)
|
rs143819461
|
0.00006
|
NM_133433.4(NIPBL):c.1833T>A (p.Ser611Arg)
|
rs199546324
|
0.00006
|
NM_133642.5(LARGE1):c.99C>T (p.Ser33=)
|
rs377353667
|
0.00006
|
NM_138413.4(HOGA1):c.828C>T (p.Asn276=)
|
rs201683794
|
0.00006
|
NM_138694.4(PKHD1):c.3628+9C>A
|
rs552339299
|
0.00006
|
NM_138694.4(PKHD1):c.3891G>A (p.Ala1297=)
|
rs775529923
|
0.00006
|
NM_138694.4(PKHD1):c.4547C>T (p.Pro1516Leu)
|
rs200278368
|
0.00006
|
NM_138694.4(PKHD1):c.5112C>T (p.Cys1704=)
|
rs202010726
|
0.00006
|
NM_138694.4(PKHD1):c.7163G>A (p.Gly2388Asp)
|
rs371830478
|
0.00006
|
NM_138694.4(PKHD1):c.8335T>G (p.Phe2779Val)
|
rs144106341
|
0.00006
|
NM_139343.3(BIN1):c.1359G>A (p.Pro453=)
|
rs201397427
|
0.00006
|
NM_139343.3(BIN1):c.1479C>T (p.Val493=)
|
rs773313892
|
0.00006
|
NM_144508.5(KNL1):c.1768G>T (p.Ala590Ser)
|
rs201334214
|
0.00006
|
NM_144508.5(KNL1):c.3573A>G (p.Ile1191Met)
|
rs200222327
|
0.00006
|
NM_152296.5(ATP1A3):c.2139C>G (p.Pro713=)
|
rs141362710
|
0.00006
|
NM_152296.5(ATP1A3):c.55C>T (p.Arg19Cys)
|
rs782229302
|
0.00006
|
NM_152564.5(VPS13B):c.11216-6T>C
|
rs780721865
|
0.00006
|
NM_153603.4(COG7):c.1851C>T (p.Pro617=)
|
rs748835759
|
0.00006
|
NM_172250.3(MMAA):c.1193T>C (p.Ile398Thr)
|
rs777459994
|
0.00006
|
NM_174936.4(PCSK9):c.1227C>T (p.Ala409=)
|
rs146924245
|
0.00006
|
NM_174936.4(PCSK9):c.658-9G>A
|
rs757194881
|
0.00006
|
NM_175914.5(HNF4A):c.381G>A (p.Leu127=)
|
rs193922473
|
0.00006
|
NM_178170.3(NEK8):c.1539T>C (p.Pro513=)
|
rs368315047
|
0.00006
|
NM_182760.4(SUMF1):c.271-7A>G
|
rs371283922
|
0.00006
|
NM_182914.3(SYNE2):c.303A>G (p.Leu101=)
|
rs371277498
|
0.00006
|
NM_198525.3(KIF7):c.1296G>A (p.Leu432=)
|
rs886051533
|
0.00006
|
NM_198525.3(KIF7):c.2322C>A (p.Leu774=)
|
rs145339415
|
0.00006
|
NM_198525.3(KIF7):c.588G>T (p.Leu196=)
|
rs191721354
|
0.00006
|
NM_198525.3(KIF7):c.924-14C>T
|
rs573998309
|
0.00006
|
NM_198904.4(GABRG2):c.1254C>T (p.Asp418=)
|
rs113085352
|
0.00006
|
NM_198904.4(GABRG2):c.41A>G (p.Tyr14Cys)
|
rs61750979
|
0.00006
|
NM_206937.2(LIG4):c.1830C>T (p.Leu610=)
|
rs768563098
|
0.00006
|
NM_206937.2(LIG4):c.500T>G (p.Ile167Arg)
|
rs138021217
|
0.00006
|
NM_000037.4(ANK1):c.1197G>A (p.Ala399=)
|
rs756075877
|
0.00005
|
NM_000038.6(APC):c.3625G>A (p.Glu1209Lys)
|
rs201185479
|
0.00005
|
NM_000048.4(ASL):c.75C>T (p.Asn25=)
|
rs370260834
|
0.00005
|
NM_000051.4(ATM):c.2220A>G (p.Ala740=)
|
rs56353517
|
0.00005
|
NM_000051.4(ATM):c.4724G>A (p.Arg1575His)
|
rs550552791
|
0.00005
|
NM_000053.4(ATP7B):c.2310C>G (p.Leu770=)
|
rs398123136
|
0.00005
|
NM_000059.4(BRCA2):c.5268A>G (p.Val1756=)
|
rs199879914
|
0.00005
|
NM_000070.3(CAPN3):c.1437C>T (p.Ser479=)
|
rs147914333
|
0.00005
|
NM_000070.3(CAPN3):c.945+14C>T
|
rs763112832
|
0.00005
|
NM_000096.4(CP):c.1131C>T (p.Ala377=)
|
rs150733154
|
0.00005
|
NM_000098.3(CPT2):c.1335C>T (p.Cys445=)
|
rs143075786
|
0.00005
|
NM_000112.4(SLC26A2):c.1194A>T (p.Val398=)
|
rs886038240
|
0.00005
|
NM_000130.5(F5):c.1033C>T (p.Arg345Trp)
|
rs746260106
|
0.00005
|
NM_000130.5(F5):c.1300G>A (p.Val434Met)
|
rs574610215
|
0.00005
|
NM_000130.5(F5):c.165T>C (p.Asn55=)
|
rs781434840
|
0.00005
|
NM_000130.5(F5):c.3801T>C (p.Leu1267=)
|
rs559683767
|
0.00005
|
NM_000135.4(FANCA):c.2152-13T>C
|
rs752105563
|
0.00005
|
NM_000135.4(FANCA):c.2778+10C>T
|
rs371786839
|
0.00005
|
NM_000135.4(FANCA):c.527C>T (p.Ser176Phe)
|
rs35566151
|
0.00005
|
NM_000135.4(FANCA):c.953G>T (p.Arg318Met)
|
rs72552377
|
0.00005
|
NM_000138.5(FBN1):c.4321G>A (p.Gly1441Arg)
|
rs372118067
|
0.00005
|
NM_000138.5(FBN1):c.7820-4G>A
|
rs750036723
|
0.00005
|
NM_000141.5(FGFR2):c.780C>T (p.Ala260=)
|
rs778288494
|
0.00005
|
NM_000143.4(FH):c.63C>T (p.Ala21=)
|
rs555404867
|
0.00005
|
NM_000147.5(FUCA1):c.936G>A (p.Leu312=)
|
rs140932886
|
0.00005
|
NM_000152.5(GAA):c.510C>T (p.Asp170=)
|
rs564758226
|
0.00005
|
NM_000153.4(GALC):c.195+15G>A
|
rs748140458
|
0.00005
|
NM_000154.2(GALK1):c.1152C>T (p.Ala384=)
|
rs373041566
|
0.00005
|
NM_000158.4(GBE1):c.1392C>T (p.Leu464=)
|
rs563241317
|
0.00005
|
NM_000179.3(MSH6):c.1844G>C (p.Cys615Ser)
|
rs730881793
|
0.00005
|
NM_000179.3(MSH6):c.3513T>C (p.Asp1171=)
|
rs63749834
|
0.00005
|
NM_000181.4(GUSB):c.211-8C>G
|
rs2293340
|
0.00005
|
NM_000191.3(HMGCL):c.720A>G (p.Gln240=)
|
rs911190800
|
0.00005
|
NM_000198.4(HSD3B2):c.13T>A (p.Cys5Ser)
|
rs376207606
|
0.00005
|
NM_000203.5(IDUA):c.1728-9C>T
|
rs374775605
|
0.00005
|
NM_000211.5(ITGB2):c.1320G>C (p.Gln440His)
|
rs138703739
|
0.00005
|
NM_000211.5(ITGB2):c.897+14C>A
|
rs374471192
|
0.00005
|
NM_000214.3(JAG1):c.3570G>A (p.Pro1190=)
|
rs201572666
|
0.00005
|
NM_000215.4(JAK3):c.2062A>T (p.Ile688Phe)
|
rs35785705
|
0.00005
|
NM_000238.4(KCNH2):c.3436A>T (p.Thr1146Ser)
|
rs778879572
|
0.00005
|
NM_000251.3(MSH2):c.843A>T (p.Ser281=)
|
rs150197753
|
0.00005
|
NM_000254.3(MTR):c.2994C>T (p.Asn998=)
|
rs778549407
|
0.00005
|
NM_000271.5(NPC1):c.1430C>T (p.Thr477Met)
|
rs761459069
|
0.00005
|
NM_000282.4(PCCA):c.945G>A (p.Ala315=)
|
rs373115130
|
0.00005
|
NM_000284.4(PDHA1):c.660C>T (p.Phe220=)
|
rs745607005
|
0.00005
|
NM_000293.3(PHKB):c.1972-7G>A
|
rs765332910
|
0.00005
|
NM_000317.3(PTS):c.132C>T (p.Asn44=)
|
rs763556416
|
0.00005
|
NM_000341.4(SLC3A1):c.1137-3T>C
|
rs555017366
|
0.00005
|
NM_000343.4(SLC5A1):c.549C>T (p.Leu183=)
|
rs376255565
|
0.00005
|
NM_000343.4(SLC5A1):c.624G>A (p.Thr208=)
|
rs144581584
|
0.00005
|
NM_000350.3(ABCA4):c.4848+13T>C
|
rs374196141
|
0.00005
|
NM_000454.5(SOD1):c.420C>T (p.Asn140=)
|
rs1804449
|
0.00005
|
NM_000455.5(STK11):c.920+6C>T
|
rs730881964
|
0.00005
|
NM_000465.4(BARD1):c.1568T>C (p.Val523Ala)
|
rs587780017
|
0.00005
|
NM_000466.3(PEX1):c.1441G>A (p.Val481Ile)
|
rs139919229
|
0.00005
|
NM_000466.3(PEX1):c.147G>A (p.Val49=)
|
rs202230667
|
0.00005
|
NM_000484.4(APP):c.885C>T (p.Ala295=)
|
rs199890425
|
0.00005
|
NM_000506.5(F2):c.978G>A (p.Pro326=)
|
rs142949009
|
0.00005
|
NM_000521.4(HEXB):c.1035A>C (p.Pro345=)
|
rs202227927
|
0.00005
|
NM_000528.4(MAN2B1):c.1838G>A (p.Arg613Gln)
|
rs543222535
|
0.00005
|
NM_000532.5(PCCB):c.1352C>T (p.Thr451Ile)
|
rs145135400
|
0.00005
|
NM_000540.3(RYR1):c.10359C>T (p.Arg3453=)
|
rs376830015
|
0.00005
|
NM_000540.3(RYR1):c.14283G>A (p.Pro4761=)
|
rs201157293
|
0.00005
|
NM_000540.3(RYR1):c.1956G>A (p.Ala652=)
|
rs202105428
|
0.00005
|
NM_000540.3(RYR1):c.2835G>A (p.Ala945=)
|
rs576990255
|
0.00005
|
NM_000540.3(RYR1):c.4306G>A (p.Val1436Met)
|
rs200289457
|
0.00005
|
NM_000540.3(RYR1):c.6651C>T (p.Gly2217=)
|
rs371006370
|
0.00005
|
NM_000540.3(RYR1):c.9555-4C>T
|
rs1417337927
|
0.00005
|
NM_000546.6(TP53):c.782+12C>T
|
rs17881780
|
0.00005
|
NM_000553.6(WRN):c.2735T>G (p.Ile912Ser)
|
rs11574323
|
0.00005
|
NM_000642.3(AGL):c.1065G>A (p.Thr355=)
|
rs764914308
|
0.00005
|
NM_000787.4(DBH):c.1722+13G>T
|
rs200197329
|
0.00005
|
NM_001005242.3(PKP2):c.1379-2000T>A
|
rs769899368
|
0.00005
|
NM_001005242.3(PKP2):c.725C>T (p.Thr242Met)
|
rs201580443
|
0.00005
|
NM_001035.3(RYR2):c.5454T>C (p.Phe1818=)
|
rs201218861
|
0.00005
|
NM_001040436.3(YARS2):c.477C>T (p.Phe159=)
|
rs774325742
|
0.00005
|
NM_001040716.2(PC):c.1233C>T (p.Ser411=)
|
rs747247743
|
0.00005
|
NM_001040716.2(PC):c.1368+11G>A
|
rs371731636
|
0.00005
|
NM_001040716.2(PC):c.1514-6C>T
|
rs745563711
|
0.00005
|
NM_001040716.2(PC):c.751+13G>A
|
rs374607634
|
0.00005
|
NM_001042492.3(NF1):c.1166A>G (p.His389Arg)
|
rs149739570
|
0.00005
|
NM_001042492.3(NF1):c.4207G>A (p.Gly1403Ser)
|
rs138227618
|
0.00005
|
NM_001065.4(TNFRSF1A):c.434A>G (p.Asn145Ser)
|
rs104895288
|
0.00005
|
NM_001083116.3(PRF1):c.591C>T (p.Leu197=)
|
rs767273601
|
0.00005
|
NM_001126108.2(SLC12A3):c.1314C>T (p.Tyr438=)
|
rs776210036
|
0.00005
|
NM_001126108.2(SLC12A3):c.2082C>T (p.Asn694=)
|
rs370145822
|
0.00005
|
NM_001130987.2(DYSF):c.3114G>A (p.Pro1038=)
|
rs398123778
|
0.00005
|
NM_001130987.2(DYSF):c.405G>A (p.Pro135=)
|
rs973059586
|
0.00005
|
NM_001130987.2(DYSF):c.4125C>T (p.Leu1375=)
|
rs773240314
|
0.00005
|
NM_001134363.3(RBM20):c.1529T>C (p.Phe510Ser)
|
rs372567331
|
0.00005
|
NM_001134363.3(RBM20):c.1899G>A (p.Pro633=)
|
rs1446760969
|
0.00005
|
NM_001134407.3(GRIN2A):c.567C>A (p.Thr189=)
|
rs758864728
|
0.00005
|
NM_001136472.2(LITAF):c.477G>A (p.Lys159=)
|
rs371453151
|
0.00005
|
NM_001164508.2(NEB):c.11025G>A (p.Thr3675=)
|
rs199789085
|
0.00005
|
NM_001164508.2(NEB):c.19315-4A>G
|
rs778306769
|
0.00005
|
NM_001164508.2(NEB):c.21268C>G (p.Pro7090Ala)
|
rs371704528
|
0.00005
|
NM_001164508.2(NEB):c.2739C>T (p.Ser913=)
|
rs185674525
|
0.00005
|
NM_001164508.2(NEB):c.3716G>T (p.Ser1239Ile)
|
rs201541240
|
0.00005
|
NM_001166114.2(PNPLA6):c.3375C>T (p.Gly1125=)
|
rs375987938
|
0.00005
|
NM_001182.5(ALDH7A1):c.913+8T>C
|
rs766528289
|
0.00005
|
NM_001256545.2(MEGF10):c.1080C>T (p.Tyr360=)
|
rs751813170
|
0.00005
|
NM_001256545.2(MEGF10):c.3180A>G (p.Pro1060=)
|
rs144450528
|
0.00005
|
NM_001277115.2(DNAH11):c.126G>A (p.Glu42=)
|
rs748250611
|
0.00005
|
NM_001277115.2(DNAH11):c.4964A>G (p.Lys1655Arg)
|
rs371049362
|
0.00005
|
NM_001277115.2(DNAH11):c.6607T>C (p.Leu2203=)
|
rs202012891
|
0.00005
|
NM_001277115.2(DNAH11):c.7800T>C (p.Asp2600=)
|
rs774129338
|
0.00005
|
NM_001352514.2(HLCS):c.1857C>A (p.Ala619=)
|
rs759178651
|
0.00005
|
NM_001358530.2(MOCS1):c.162G>A (p.Ala54=)
|
rs200316862
|
0.00005
|
NM_001369369.1(FOXN1):c.159C>T (p.Ser53=)
|
rs368024968
|
0.00005
|
NM_001370658.1(BTD):c.48C>T (p.Tyr16=)
|
rs201823743
|
0.00005
|
NM_001372051.1(CASP8):c.1308C>T (p.Gly436=)
|
rs777463099
|
0.00005
|
NM_001376.5(DYNC1H1):c.12453A>T (p.Pro4151=)
|
rs200375220
|
0.00005
|
NM_001376.5(DYNC1H1):c.2328G>A (p.Pro776=)
|
rs144921184
|
0.00005
|
NM_001384474.1(LOXHD1):c.4068G>A (p.Arg1356=)
|
rs539688337
|
0.00005
|
NM_001395413.1(POR):c.888C>T (p.Thr296=)
|
rs180683888
|
0.00005
|
NM_001395413.1(POR):c.990C>T (p.Leu330=)
|
rs376830846
|
0.00005
|
NM_001875.5(CPS1):c.3121C>T (p.Leu1041=)
|
rs146064786
|
0.00005
|
NM_001918.5(DBT):c.291C>T (p.Ser97=)
|
rs201318480
|
0.00005
|
NM_001943.5(DSG2):c.2780C>T (p.Pro927Leu)
|
rs146402368
|
0.00005
|
NM_002292.4(LAMB2):c.3324C>T (p.Asn1108=)
|
rs757491995
|
0.00005
|
NM_002292.4(LAMB2):c.386-15C>T
|
rs117575041
|
0.00005
|
NM_002435.3(MPI):c.132G>A (p.Lys44=)
|
rs778577329
|
0.00005
|
NM_002454.3(MTRR):c.346C>A (p.Gln116Lys)
|
rs202110383
|
0.00005
|
NM_002474.3(MYH11):c.708C>T (p.Asn236=)
|
rs768328532
|
0.00005
|
NM_002529.4(NTRK1):c.357C>T (p.Arg119=)
|
rs149960336
|
0.00005
|
NM_002529.4(NTRK1):c.375C>T (p.Asn125=)
|
rs757803799
|
0.00005
|
NM_002617.4(PEX10):c.711C>T (p.Tyr237=)
|
rs761005209
|
0.00005
|
NM_002637.4(PHKA1):c.3364G>C (p.Glu1122Gln)
|
rs202007590
|
0.00005
|
NM_002637.4(PHKA1):c.3570C>T (p.Asp1190=)
|
rs1033726905
|
0.00005
|
NM_002693.3(POLG):c.1311C>T (p.Val437=)
|
rs62640035
|
0.00005
|
NM_002863.5(PYGL):c.1884A>G (p.Ala628=)
|
rs374560108
|
0.00005
|
NM_003172.4(SURF1):c.507C>T (p.Thr169=)
|
rs782614599
|
0.00005
|
NM_003640.5(ELP1):c.2799G>A (p.Arg933=)
|
rs367974002
|
0.00005
|
NM_003664.5(AP3B1):c.1704C>T (p.Tyr568=)
|
rs376978572
|
0.00005
|
NM_003722.5(TP63):c.992+9C>T
|
rs369838833
|
0.00005
|
NM_003859.3(DPM1):c.456A>G (p.Gly152=)
|
rs370598866
|
0.00005
|
NM_003863.4(DPM2):c.197-5C>T
|
rs886063482
|
0.00005
|
NM_003978.5(PSTPIP1):c.411C>A (p.Ala137=)
|
rs368114895
|
0.00005
|
NM_004035.7(ACOX1):c.405T>C (p.Thr135=)
|
rs142474717
|
0.00005
|
NM_004035.7(ACOX1):c.912C>T (p.Ser304=)
|
rs144826451
|
0.00005
|
NM_004100.5(EYA4):c.1107+13A>C
|
rs775989680
|
0.00005
|
NM_004415.4(DSP):c.8462C>T (p.Ser2821Leu)
|
rs201826850
|
0.00005
|
NM_004415.4(DSP):c.8507G>A (p.Gly2836Glu)
|
rs764232504
|
0.00005
|
NM_004525.3(LRP2):c.3495G>A (p.Ser1165=)
|
rs186494101
|
0.00005
|
NM_005327.7(HADH):c.132+7G>T
|
rs534966818
|
0.00005
|
NM_005546.4(ITK):c.496-4C>G
|
rs749411240
|
0.00005
|
NM_005902.4(SMAD3):c.607+9T>A
|
rs886051380
|
0.00005
|
NM_006623.4(PHGDH):c.372G>A (p.Ala124=)
|
rs146740411
|
0.00005
|
NM_006790.3(MYOT):c.1458G>A (p.Leu486=)
|
rs202139846
|
0.00005
|
NM_006892.4(DNMT3B):c.1297+10T>C
|
rs146299831
|
0.00005
|
NM_006949.4(STXBP2):c.1506C>T (p.Pro502=)
|
rs773575515
|
0.00005
|
NM_012144.4(DNAI1):c.1999A>G (p.Lys667Glu)
|
rs560719255
|
0.00005
|
NM_014049.5(ACAD9):c.1650C>G (p.Ala550=)
|
rs559422558
|
0.00005
|
NM_014141.6(CNTNAP2):c.2554+14G>T
|
rs546437079
|
0.00005
|
NM_014336.5(AIPL1):c.616A>G (p.Ile206Val)
|
rs772911646
|
0.00005
|
NM_014336.5(AIPL1):c.900G>C (p.Ala300=)
|
rs373590751
|
0.00005
|
NM_014363.6(SACS):c.447G>A (p.Ala149=)
|
rs145681117
|
0.00005
|
NM_014363.6(SACS):c.7614A>C (p.Ala2538=)
|
rs142697365
|
0.00005
|
NM_014714.4(IFT140):c.2817G>A (p.Ser939=)
|
rs373651150
|
0.00005
|
NM_014714.4(IFT140):c.3779G>A (p.Arg1260Gln)
|
rs571556177
|
0.00005
|
NM_014855.3(AP5Z1):c.1356G>A (p.Ala452=)
|
rs558636596
|
0.00005
|
NM_014855.3(AP5Z1):c.1974C>T (p.Tyr658=)
|
rs375030531
|
0.00005
|
NM_014946.4(SPAST):c.30G>A (p.Lys10=)
|
rs768928614
|
0.00005
|
NM_015627.3(LDLRAP1):c.201G>A (p.Ser67=)
|
rs747011377
|
0.00005
|
NM_015627.3(LDLRAP1):c.75T>A (p.Gly25=)
|
rs1057515462
|
0.00005
|
NM_015915.5(ATL1):c.1120-15C>T
|
rs771568686
|
0.00005
|
NM_016123.4(IRAK4):c.742C>T (p.Leu248=)
|
rs375755560
|
0.00005
|
NM_017636.4(TRPM4):c.1873+4C>T
|
rs746766318
|
0.00005
|
NM_018714.3(COG1):c.20C>T (p.Ser7Leu)
|
rs200144944
|
0.00005
|
NM_020166.5(MCCC1):c.1941C>T (p.Gly647=)
|
rs199528231
|
0.00005
|
NM_020247.5(COQ8A):c.1809C>T (p.Pro603=)
|
rs774789966
|
0.00005
|
NM_020247.5(COQ8A):c.798G>A (p.Thr266=)
|
rs750042754
|
0.00005
|
NM_020376.4(PNPLA2):c.591C>T (p.Asp197=)
|
rs200897893
|
0.00005
|
NM_020533.3(MCOLN1):c.876C>T (p.His292=)
|
rs199588225
|
0.00005
|
NM_021615.5(CHST6):c.918C>T (p.Ile306=)
|
rs576445739
|
0.00005
|
NM_022124.6(CDH23):c.4857C>T (p.His1619=)
|
rs369817589
|
0.00005
|
NM_022436.3(ABCG5):c.1180C>T (p.Leu394=)
|
rs771802286
|
0.00005
|
NM_024685.4(BBS10):c.42G>A (p.Ala14=)
|
rs373458861
|
0.00005
|
NM_025137.4(SPG11):c.3425C>G (p.Ser1142Cys)
|
rs201082396
|
0.00005
|
NM_032409.3(PINK1):c.1065A>G (p.Gln355=)
|
rs370470902
|
0.00005
|
NM_032581.4(HYCC1):c.281A>G (p.Asn94Ser)
|
rs201252505
|
0.00005
|
NM_033159.4(HYAL1):c.846G>A (p.Pro282=)
|
rs782094366
|
0.00005
|
NM_052989.3(IFT122):c.228C>T (p.Ser76=)
|
rs772835552
|
0.00005
|
NM_052989.3(IFT122):c.876C>T (p.Gly292=)
|
rs768782991
|
0.00005
|
NM_080680.3(COL11A2):c.4675C>T (p.Arg1559Trp)
|
rs370966667
|
0.00005
|
NM_133642.5(LARGE1):c.1389C>T (p.Tyr463=)
|
rs115686643
|
0.00005
|
NM_138694.4(PKHD1):c.11224G>A (p.Ala3742Thr)
|
rs557211301
|
0.00005
|
NM_152383.5(DIS3L2):c.1125-6T>G
|
rs764758535
|
0.00005
|
NM_152383.5(DIS3L2):c.1158C>T (p.Thr386=)
|
rs539081624
|
0.00005
|
NM_152564.5(VPS13B):c.10755C>T (p.Asp3585=)
|
rs145950999
|
0.00005
|
NM_152564.5(VPS13B):c.6056A>G (p.Asn2019Ser)
|
rs534471615
|
0.00005
|
NM_152783.5(D2HGDH):c.1306+7G>A
|
rs537773004
|
0.00005
|
NM_152783.5(D2HGDH):c.854-8C>T
|
rs758727451
|
0.00005
|
NM_172250.3(MMAA):c.1003A>T (p.Ile335Phe)
|
rs199749473
|
0.00005
|
NM_172250.3(MMAA):c.912G>A (p.Ala304=)
|
rs371769807
|
0.00005
|
NM_182894.3(VSX2):c.504C>T (p.Asn168=)
|
rs550984628
|
0.00005
|
NM_201384.3(PLEC):c.11438G>A (p.Arg3813His)
|
rs782311906
|
0.00005
|
NM_000016.6(ACADM):c.287-10G>C
|
rs368875210
|
0.00004
|
NM_000016.6(ACADM):c.57T>C (p.His19=)
|
rs762984318
|
0.00004
|
NM_000017.4(ACADS):c.1104C>T (p.Gly368=)
|
rs200165866
|
0.00004
|
NM_000022.4(ADA):c.21C>T (p.Phe7=)
|
rs925528695
|
0.00004
|
NM_000022.4(ADA):c.642C>T (p.His214=)
|
rs562055008
|
0.00004
|
NM_000026.4(ADSL):c.1011-9G>C
|
rs780794164
|
0.00004
|
NM_000038.6(APC):c.5894A>C (p.His1965Pro)
|
rs773776516
|
0.00004
|
NM_000038.6(APC):c.6019T>C (p.Tyr2007His)
|
rs745811356
|
0.00004
|
NM_000038.6(APC):c.6639G>A (p.Met2213Ile)
|
rs35540155
|
0.00004
|
NM_000045.4(ARG1):c.944T>C (p.Ile315Thr)
|
rs202219126
|
0.00004
|
NM_000046.5(ARSB):c.510G>C (p.Leu170=)
|
rs768312895
|
0.00004
|
NM_000051.4(ATM):c.4148C>T (p.Ser1383Leu)
|
rs141087784
|
0.00004
|
NM_000051.4(ATM):c.8391T>C (p.Ser2797=)
|
rs566485657
|
0.00004
|
NM_000051.4(ATM):c.8968G>A (p.Glu2990Lys)
|
rs1800558
|
0.00004
|
NM_000053.4(ATP7B):c.1158G>T (p.Gly386=)
|
rs778775834
|
0.00004
|
NM_000053.4(ATP7B):c.1172C>T (p.Ser391Leu)
|
rs750724856
|
0.00004
|
NM_000053.4(ATP7B):c.2763T>C (p.Ser921=)
|
rs1052485948
|
0.00004
|
NM_000053.4(ATP7B):c.3885C>T (p.Ala1295=)
|
rs200597654
|
0.00004
|
NM_000053.4(ATP7B):c.4215C>T (p.Gly1405=)
|
rs767721448
|
0.00004
|
NM_000059.4(BRCA2):c.1762A>G (p.Asn588Asp)
|
rs398122731
|
0.00004
|
NM_000059.4(BRCA2):c.267G>A (p.Pro89=)
|
rs587780648
|
0.00004
|
NM_000059.4(BRCA2):c.2987T>G (p.Leu996Arg)
|
rs80358545
|
0.00004
|
NM_000059.4(BRCA2):c.5319G>A (p.Glu1773=)
|
rs376257217
|
0.00004
|
NM_000059.4(BRCA2):c.5752C>T (p.His1918Tyr)
|
rs80358803
|
0.00004
|
NM_000070.3(CAPN3):c.1557C>T (p.His519=)
|
rs368385372
|
0.00004
|
NM_000079.4(CHRNA1):c.111C>T (p.Ser37=)
|
rs886055151
|
0.00004
|
NM_000080.4(CHRNE):c.1071G>A (p.Pro357=)
|
rs772143528
|
0.00004
|
NM_000080.4(CHRNE):c.1374C>T (p.Cys458=)
|
rs201030784
|
0.00004
|
NM_000094.4(COL7A1):c.4704C>T (p.Thr1568=)
|
rs573530168
|
0.00004
|
NM_000098.3(CPT2):c.1645+15G>T
|
rs753344588
|
0.00004
|
NM_000127.3(EXT1):c.1743G>A (p.Val581=)
|
rs375284779
|
0.00004
|
NM_000130.5(F5):c.586+11C>A
|
rs199638362
|
0.00004
|
NM_000133.4(F9):c.582T>G (p.Thr194=)
|
rs754155651
|
0.00004
|
NM_000135.4(FANCA):c.1777-15C>G
|
rs371919426
|
0.00004
|
NM_000135.4(FANCA):c.189+7G>A
|
rs369985388
|
0.00004
|
NM_000135.4(FANCA):c.793-9T>C
|
rs757500718
|
0.00004
|
NM_000137.4(FAH):c.81+8G>A
|
rs188046704
|
0.00004
|
NM_000138.5(FBN1):c.1602T>C (p.Cys534=)
|
rs377386372
|
0.00004
|
NM_000138.5(FBN1):c.1884C>T (p.Cys628=)
|
rs150421653
|
0.00004
|
NM_000138.5(FBN1):c.538+4A>G
|
rs375721252
|
0.00004
|
NM_000138.5(FBN1):c.5724A>G (p.Thr1908=)
|
rs141219664
|
0.00004
|
NM_000152.5(GAA):c.1245G>A (p.Thr415=)
|
rs760920034
|
0.00004
|
NM_000152.5(GAA):c.2151C>T (p.His717=)
|
rs758725073
|
0.00004
|
NM_000152.5(GAA):c.861C>T (p.Pro287=)
|
rs778580823
|
0.00004
|
NM_000153.4(GALC):c.28T>C (p.Trp10Arg)
|
rs767913083
|
0.00004
|
NM_000155.4(GALT):c.270T>C (p.Asp90=)
|
rs1300102277
|
0.00004
|
NM_000159.4(GCDH):c.945C>T (p.Tyr315=)
|
rs138133019
|
0.00004
|
NM_000170.3(GLDC):c.1483-15G>C
|
rs371777070
|
0.00004
|
NM_000170.3(GLDC):c.150G>A (p.Ser50=)
|
rs768354829
|
0.00004
|
NM_000170.3(GLDC):c.1626A>G (p.Glu542=)
|
rs779537709
|
0.00004
|
NM_000179.3(MSH6):c.3801+5G>A
|
rs201080919
|
0.00004
|
NM_000181.4(GUSB):c.324G>A (p.Pro108=)
|
rs546131174
|
0.00004
|
NM_000183.3(HADHB):c.64+15A>T
|
rs1018820638
|
0.00004
|
NM_000186.4(CFH):c.2596+8G>T
|
rs375176505
|
0.00004
|
NM_000186.4(CFH):c.907C>T (p.Arg303Trp)
|
rs142937931
|
0.00004
|
NM_000187.4(HGD):c.177-5T>C
|
rs768308376
|
0.00004
|
NM_000199.5(SGSH):c.1134C>T (p.Ser378=)
|
rs771257931
|
0.00004
|
NM_000203.5(IDUA):c.1031C>G (p.Ala344Gly)
|
rs202191662
|
0.00004
|
NM_000203.5(IDUA):c.30G>A (p.Leu10=)
|
rs549738466
|
0.00004
|
NM_000212.3(ITGB3):c.2331G>A (p.Thr777=)
|
rs566831897
|
0.00004
|
NM_000214.3(JAG1):c.2590A>G (p.Ile864Val)
|
rs142742183
|
0.00004
|
NM_000214.3(JAG1):c.439+9C>T
|
rs374350782
|
0.00004
|
NM_000215.4(JAK3):c.2254C>T (p.Leu752=)
|
rs200123352
|
0.00004
|
NM_000215.4(JAK3):c.2350+7G>A
|
rs200658439
|
0.00004
|
NM_000215.4(JAK3):c.2535C>T (p.Gly845=)
|
rs200746503
|
0.00004
|
NM_000215.4(JAK3):c.2772C>T (p.Ser924=)
|
rs199939250
|
0.00004
|
NM_000222.3(KIT):c.2802+9A>G
|
rs369450271
|
0.00004
|
NM_000235.4(LIPA):c.967-13C>A
|
rs762226885
|
0.00004
|
NM_000238.4(KCNH2):c.3164G>A (p.Arg1055Gln)
|
rs41307270
|
0.00004
|
NM_000243.3(MEFV):c.1527C>T (p.Leu509=)
|
rs571832030
|
0.00004
|
NM_000243.3(MEFV):c.775A>G (p.Ile259Val)
|
rs104895144
|
0.00004
|
NM_000246.4(CIITA):c.3012C>T (p.Val1004=)
|
rs751445508
|
0.00004
|
NM_000249.4(MLH1):c.1269G>A (p.Arg423=)
|
rs373076967
|
0.00004
|
NM_000249.4(MLH1):c.2252A>G (p.Lys751Arg)
|
rs140195825
|
0.00004
|
NM_000251.3(MSH2):c.1530G>C (p.Gln510His)
|
rs587782355
|
0.00004
|
NM_000251.3(MSH2):c.2580G>A (p.Ser860=)
|
rs752428475
|
0.00004
|
NM_000251.3(MSH2):c.336C>A (p.Ser112=)
|
rs34312619
|
0.00004
|
NM_000254.3(MTR):c.1722T>C (p.Ser574=)
|
rs142857114
|
0.00004
|
NM_000256.3(MYBPC3):c.1056C>G (p.Leu352=)
|
rs375007425
|
0.00004
|
NM_000257.4(MYH7):c.4158C>T (p.Leu1386=)
|
rs886050418
|
0.00004
|
NM_000262.3(NAGA):c.582C>T (p.Gly194=)
|
rs553977653
|
0.00004
|
NM_000264.5(PTCH1):c.1664A>G (p.Asn555Ser)
|
rs181192122
|
0.00004
|
NM_000264.5(PTCH1):c.4141G>A (p.Val1381Met)
|
rs187104739
|
0.00004
|
NM_000268.4(NF2):c.255T>C (p.Asp85=)
|
rs375802248
|
0.00004
|
NM_000270.4(PNP):c.678C>T (p.Ile226=)
|
rs563086985
|
0.00004
|
NM_000271.5(NPC1):c.1947+12G>T
|
rs886053666
|
0.00004
|
NM_000271.5(NPC1):c.2514+15G>A
|
rs765825660
|
0.00004
|
NM_000288.4(PEX7):c.804-5C>T
|
rs369653173
|
0.00004
|
NM_000293.3(PHKB):c.30A>C (p.Glu10Asp)
|
rs760502380
|
0.00004
|
NM_000295.5(SERPINA1):c.211A>C (p.Ser71Arg)
|
rs11575873
|
0.00004
|
NM_000302.4(PLOD1):c.1584+10G>A
|
rs756917169
|
0.00004
|
NM_000303.3(PMM2):c.639+10G>A
|
rs200593954
|
0.00004
|
NM_000308.4(CTSA):c.1164+7G>A
|
rs775198775
|
0.00004
|
NM_000310.4(PPT1):c.234+7C>T
|
rs200777536
|
0.00004
|
NM_000312.4(PROC):c.1065C>T (p.Asn355=)
|
rs548020208
|
0.00004
|
NM_000312.4(PROC):c.1272G>A (p.Glu424=)
|
rs770534863
|
0.00004
|
NM_000335.5(SCN5A):c.103G>A (p.Gly35Ser)
|
rs199473552
|
0.00004
|
NM_000335.5(SCN5A):c.2259C>T (p.Asn753=)
|
rs878911306
|
0.00004
|
NM_000335.5(SCN5A):c.4467G>A (p.Glu1489=)
|
rs375026424
|
0.00004
|
NM_000340.2(SLC2A2):c.612+10C>A
|
rs762632420
|
0.00004
|
NM_000341.4(SLC3A1):c.1125C>T (p.Pro375=)
|
rs760943092
|
0.00004
|
NM_000343.4(SLC5A1):c.813G>A (p.Thr271=)
|
rs200849778
|
0.00004
|
NM_000350.3(ABCA4):c.1699G>A (p.Val567Met)
|
rs74516571
|
0.00004
|
NM_000350.3(ABCA4):c.2487G>A (p.Thr829=)
|
rs770089512
|
0.00004
|
NM_000350.3(ABCA4):c.4128+12G>A
|
rs746262766
|
0.00004
|
NM_000350.3(ABCA4):c.5406C>T (p.Ile1802=)
|
rs202199507
|
0.00004
|
NM_000350.3(ABCA4):c.5712A>G (p.Gln1904=)
|
rs191506332
|
0.00004
|
NM_000350.3(ABCA4):c.575C>T (p.Ala192Val)
|
rs185729337
|
0.00004
|
NM_000360.4(TH):c.1470C>G (p.Ala490=)
|
rs777477661
|
0.00004
|
NM_000363.5(TNNI3):c.372+7C>T
|
rs367809676
|
0.00004
|
NM_000368.5(TSC1):c.2922C>T (p.Leu974=)
|
rs769389702
|
0.00004
|
NM_000414.4(HSD17B4):c.1131C>T (p.Phe377=)
|
rs200347945
|
0.00004
|
NM_000419.5(ITGA2B):c.1383C>T (p.Asn461=)
|
rs367831764
|
0.00004
|
NM_000419.5(ITGA2B):c.858C>T (p.Val286=)
|
rs376672078
|
0.00004
|
NM_000426.4(LAMA2):c.5469C>T (p.Ser1823=)
|
rs753886576
|
0.00004
|
NM_000426.4(LAMA2):c.9212-11G>A
|
rs770088527
|
0.00004
|
NM_000433.4(NCF2):c.636C>T (p.Asp212=)
|
rs774027102
|
0.00004
|
NM_000441.2(SLC26A4):c.147C>G (p.Ser49Arg)
|
rs756969021
|
0.00004
|
NM_000455.5(STK11):c.374+11C>T
|
rs368923696
|
0.00004
|
NM_000465.4(BARD1):c.1473G>A (p.Gly491=)
|
rs151080730
|
0.00004
|
NM_000465.4(BARD1):c.2280G>A (p.Ser760=)
|
rs749959440
|
0.00004
|
NM_000465.4(BARD1):c.783A>G (p.Leu261=)
|
rs201862973
|
0.00004
|
NM_000481.4(AMT):c.195C>T (p.His65=)
|
rs145243292
|
0.00004
|
NM_000484.4(APP):c.727G>A (p.Asp243Asn)
|
rs750279232
|
0.00004
|
NM_000506.5(F2):c.285G>A (p.Thr95=)
|
rs147892497
|
0.00004
|
NM_000518.5(HBB):c.85C>T (p.Leu29=)
|
rs33958088
|
0.00004
|
NM_000527.5(LDLR):c.1078G>C (p.Asp360His)
|
rs777926251
|
0.00004
|
NM_000527.5(LDLR):c.1988-13T>G
|
rs200201131
|
0.00004
|
NM_000527.5(LDLR):c.2575G>A (p.Val859Met)
|
rs202049029
|
0.00004
|
NM_000528.4(MAN2B1):c.1435G>T (p.Ala479Ser)
|
rs767199154
|
0.00004
|
NM_000528.4(MAN2B1):c.1845G>A (p.Thr615=)
|
rs369071579
|
0.00004
|
NM_000528.4(MAN2B1):c.2047-5C>T
|
rs200424566
|
0.00004
|
NM_000528.4(MAN2B1):c.282C>T (p.His94=)
|
rs766810849
|
0.00004
|
NM_000535.7(PMS2):c.*17G>C
|
rs556089649
|
0.00004
|
NM_000540.3(RYR1):c.10458C>T (p.Ser3486=)
|
rs770132934
|
0.00004
|
NM_000540.3(RYR1):c.13998+3G>A
|
rs765404523
|
0.00004
|
NM_000540.3(RYR1):c.14538G>C (p.Ala4846=)
|
rs763954439
|
0.00004
|
NM_000540.3(RYR1):c.3021C>T (p.Ser1007=)
|
rs143891703
|
0.00004
|
NM_000540.3(RYR1):c.7689C>G (p.Thr2563=)
|
rs781110591
|
0.00004
|
NM_000540.3(RYR1):c.9477C>T (p.Asp3159=)
|
rs139409128
|
0.00004
|
NM_000543.5(SMPD1):c.1599G>A (p.Pro533=)
|
rs552841217
|
0.00004
|
NM_000553.6(WRN):c.3778G>A (p.Ala1260Thr)
|
rs201107091
|
0.00004
|
NM_000751.3(CHRND):c.1253-10T>G
|
rs199508773
|
0.00004
|
NM_000784.4(CYP27A1):c.545T>C (p.Ile182Thr)
|
rs556745324
|
0.00004
|
NM_001004127.3(ALG11):c.1269G>A (p.Lys423=)
|
rs369694921
|
0.00004
|
NM_001005242.3(PKP2):c.1379-1997G>A
|
rs781072699
|
0.00004
|
NM_001005242.3(PKP2):c.1452G>A (p.Thr484=)
|
rs727504098
|
0.00004
|
NM_001005242.3(PKP2):c.1464C>T (p.Ile488=)
|
rs145387575
|
0.00004
|
NM_001005242.3(PKP2):c.2001C>T (p.Ala667=)
|
rs529442984
|
0.00004
|
NM_001005242.3(PKP2):c.2018C>T (p.Pro673Leu)
|
rs144018320
|
0.00004
|
NM_001005242.3(PKP2):c.2019G>A (p.Pro673=)
|
rs147995773
|
0.00004
|
NM_001005242.3(PKP2):c.2233A>G (p.Ile745Val)
|
rs551045165
|
0.00004
|
NM_001005361.3(DNM2):c.2418G>A (p.Ala806=)
|
rs200968756
|
0.00004
|
NM_001008216.2(GALE):c.874-9G>A
|
rs764448821
|
0.00004
|
NM_001017420.3(ESCO2):c.742A>G (p.Thr248Ala)
|
rs750159862
|
0.00004
|
NM_001025603.2(RFX5):c.117-13C>T
|
rs371670135
|
0.00004
|
NM_001033044.4(GLUL):c.930C>T (p.Asn310=)
|
rs369280031
|
0.00004
|
NM_001033855.3(DCLRE1C):c.915G>A (p.Val305=)
|
rs774772480
|
0.00004
|
NM_001035.3(RYR2):c.10035G>A (p.Arg3345=)
|
rs754976419
|
0.00004
|
NM_001035.3(RYR2):c.10495-14A>G
|
rs727505057
|
0.00004
|
NM_001035.3(RYR2):c.11557+15G>A
|
rs761490797
|
0.00004
|
NM_001035.3(RYR2):c.12858C>T (p.Ser4286=)
|
rs185482345
|
0.00004
|
NM_001035.3(RYR2):c.8309T>C (p.Ile2770Thr)
|
rs397516550
|
0.00004
|
NM_001035.3(RYR2):c.9435T>C (p.Ser3145=)
|
rs774657844
|
0.00004
|
NM_001035.3(RYR2):c.982G>A (p.Ala328Thr)
|
rs201669522
|
0.00004
|
NM_001040716.2(PC):c.2899-9G>A
|
rs372755874
|
0.00004
|
NM_001042432.2(CLN3):c.*29A>G
|
rs778438984
|
0.00004
|
NM_001042432.2(CLN3):c.516C>T (p.Leu172=)
|
rs148846795
|
0.00004
|
NM_001042492.3(NF1):c.3883A>G (p.Thr1295Ala)
|
rs143836226
|
0.00004
|
NM_001080.3(ALDH5A1):c.924C>T (p.Gly308=)
|
rs188108571
|
0.00004
|
NM_001081.4(CUBN):c.2203G>A (p.Val735Ile)
|
rs370770104
|
0.00004
|
NM_001082971.2(DDC):c.1044T>C (p.His348=)
|
rs527805112
|
0.00004
|
NM_001082971.2(DDC):c.316-6C>T
|
rs377474761
|
0.00004
|
NM_001082971.2(DDC):c.822C>T (p.Tyr274=)
|
rs746729797
|
0.00004
|
NM_001101362.3(KBTBD13):c.1191G>C (p.Val397=)
|
rs376673920
|
0.00004
|
NM_001114753.3(ENG):c.1389C>T (p.Ala463=)
|
rs200168633
|
0.00004
|
NM_001114753.3(ENG):c.9C>T (p.Arg3=)
|
rs752431673
|
0.00004
|
NM_001122659.3(EDNRB):c.99T>C (p.Pro33=)
|
rs1050929
|
0.00004
|
NM_001122681.2(SH3BP2):c.1351-13C>T
|
rs367963191
|
0.00004
|
NM_001122769.3(LCA5):c.1800A>G (p.Lys600=)
|
rs147032284
|
0.00004
|
NM_001130987.2(DYSF):c.1287C>T (p.Ala429=)
|
rs769254776
|
0.00004
|
NM_001130987.2(DYSF):c.1807-10C>T
|
rs749361351
|
0.00004
|
NM_001130987.2(DYSF):c.2016C>T (p.Asn672=)
|
rs199565036
|
0.00004
|
NM_001130987.2(DYSF):c.3228+7C>T
|
rs534331009
|
0.00004
|
NM_001130987.2(DYSF):c.4059+7C>T
|
rs562567295
|
0.00004
|
NM_001130987.2(DYSF):c.4858C>T (p.Arg1620Cys)
|
rs752946123
|
0.00004
|
NM_001134363.3(RBM20):c.2200C>T (p.Arg734Trp)
|
rs199972578
|
0.00004
|
NM_001134363.3(RBM20):c.2991G>A (p.Val997=)
|
rs756276591
|
0.00004
|
NM_001134363.3(RBM20):c.305G>A (p.Arg102Gln)
|
rs886046699
|
0.00004
|
NM_001134363.3(RBM20):c.3266C>G (p.Pro1089Arg)
|
rs772708424
|
0.00004
|
NM_001134363.3(RBM20):c.99G>C (p.Pro33=)
|
rs921066961
|
0.00004
|
NM_001134407.3(GRIN2A):c.1119A>G (p.Glu373=)
|
rs368406915
|
0.00004
|
NM_001134407.3(GRIN2A):c.747C>T (p.Thr249=)
|
rs774169125
|
0.00004
|
NM_001145809.2(MYH14):c.543C>T (p.Ala181=)
|
rs746669662
|
0.00004
|
NM_001160372.4(TRAPPC9):c.2793C>T (p.His931=)
|
rs886062722
|
0.00004
|
NM_001161352.2(KCNMA1):c.1227C>T (p.His409=)
|
rs202161397
|
0.00004
|
NM_001161352.2(KCNMA1):c.1407C>T (p.Ser469=)
|
rs370862113
|
0.00004
|
NM_001161352.2(KCNMA1):c.1563C>A (p.Ile521=)
|
rs78544619
|
0.00004
|
NM_001161352.2(KCNMA1):c.771C>T (p.Pro257=)
|
rs367642241
|
0.00004
|
NM_001164508.2(NEB):c.11851G>A (p.Val3951Met)
|
rs759624618
|
0.00004
|
NM_001164508.2(NEB):c.17183A>T (p.Asp5728Val)
|
rs756098317
|
0.00004
|
NM_001164508.2(NEB):c.17415C>T (p.Tyr5805=)
|
rs555516831
|
0.00004
|
NM_001164508.2(NEB):c.1953G>A (p.Glu651=)
|
rs367997645
|
0.00004
|
NM_001164508.2(NEB):c.19722A>G (p.Leu6574=)
|
rs141526973
|
0.00004
|
NM_001164508.2(NEB):c.20131C>T (p.Arg6711Trp)
|
rs533233215
|
0.00004
|
NM_001164508.2(NEB):c.2250G>A (p.Thr750=)
|
rs753965951
|
0.00004
|
NM_001164508.2(NEB):c.23382G>A (p.Ser7794=)
|
rs770713773
|
0.00004
|
NM_001164508.2(NEB):c.23525G>A (p.Arg7842His)
|
rs369514998
|
0.00004
|
NM_001164508.2(NEB):c.23789C>A (p.Thr7930Asn)
|
rs760905651
|
0.00004
|
NM_001164508.2(NEB):c.3571G>A (p.Val1191Ile)
|
rs767493706
|
0.00004
|
NM_001164508.2(NEB):c.4072T>C (p.Tyr1358His)
|
rs377054979
|
0.00004
|
NM_001164508.2(NEB):c.4119C>G (p.Asn1373Lys)
|
rs377653217
|
0.00004
|
NM_001164508.2(NEB):c.4271C>T (p.Thr1424Met)
|
rs372694084
|
0.00004
|
NM_001164508.2(NEB):c.47A>T (p.Glu16Val)
|
rs748679499
|
0.00004
|
NM_001164508.2(NEB):c.5849A>G (p.Lys1950Arg)
|
rs758655350
|
0.00004
|
NM_001164508.2(NEB):c.6513T>C (p.Asp2171=)
|
rs376535906
|
0.00004
|
NM_001164508.2(NEB):c.7758C>T (p.Asp2586=)
|
rs559846137
|
0.00004
|
NM_001164508.2(NEB):c.8864A>G (p.Lys2955Arg)
|
rs760903716
|
0.00004
|
NM_001166114.2(PNPLA6):c.864G>A (p.Pro288=)
|
rs369082833
|
0.00004
|
NM_001182.5(ALDH7A1):c.1017T>C (p.His339=)
|
rs200394848
|
0.00004
|
NM_001199397.3(NEK1):c.3135T>C (p.Ser1045=)
|
rs370713361
|
0.00004
|
NM_001199397.3(NEK1):c.3622G>A (p.Asp1208Asn)
|
rs35503975
|
0.00004
|
NM_001199397.3(NEK1):c.3715-6G>C
|
rs771507979
|
0.00004
|
NM_001242957.3(MAK):c.1128C>T (p.Val376=)
|
rs768120333
|
0.00004
|
NM_001242957.3(MAK):c.867A>G (p.Val289=)
|
rs147570352
|
0.00004
|
NM_001243177.4(ALDOA):c.312G>A (p.Glu104=)
|
rs779556052
|
0.00004
|
NM_001244710.2(GFPT1):c.327C>T (p.Pro109=)
|
rs537066687
|
0.00004
|
NM_001276345.2(TNNT2):c.720-5T>G
|
rs730881092
|
0.00004
|
NM_001277115.2(DNAH11):c.2156A>G (p.Asn719Ser)
|
rs551038953
|
0.00004
|
NM_001277115.2(DNAH11):c.2547A>G (p.Leu849=)
|
rs535761458
|
0.00004
|
NM_001277115.2(DNAH11):c.6683+16_6683+18del
|
rs750498878
|
0.00004
|
NM_001330078.2(NRXN1):c.1857A>G (p.Pro619=)
|
rs1324701043
|
0.00004
|
NM_001330078.2(NRXN1):c.3384T>C (p.Phe1128=)
|
rs751894635
|
0.00004
|
NM_001330078.2(NRXN1):c.4236C>T (p.Gly1412=)
|
rs587781101
|
0.00004
|
NM_001330078.2(NRXN1):c.492C>T (p.Ala164=)
|
rs201180707
|
0.00004
|
NM_001352514.2(HLCS):c.494-9A>G
|
rs376397597
|
0.00004
|
NM_001352514.2(HLCS):c.574C>G (p.Pro192Ala)
|
rs200950813
|
0.00004
|
NM_001352514.2(HLCS):c.918A>G (p.Gly306=)
|
rs767988985
|
0.00004
|
NM_001358530.2(MOCS1):c.583+7G>A
|
rs150131853
|
0.00004
|
NM_001360.3(DHCR7):c.1091C>T (p.Thr364Met)
|
rs567600444
|
0.00004
|
NM_001365088.1(SLC12A6):c.1008C>T (p.Gly336=)
|
rs770742608
|
0.00004
|
NM_001369.3(DNAH5):c.4139G>A (p.Arg1380Gln)
|
rs779980906
|
0.00004
|
NM_001369369.1(FOXN1):c.1706C>A (p.Ser569Tyr)
|
rs149225004
|
0.00004
|
NM_001369369.1(FOXN1):c.987C>T (p.Phe329=)
|
rs184956155
|
0.00004
|
NM_001370259.2(MEN1):c.941G>A (p.Arg314Gln)
|
rs771645621
|
0.00004
|
NM_001374353.1(GLI2):c.413C>T (p.Thr138Met)
|
rs148317983
|
0.00004
|
NM_001376.5(DYNC1H1):c.10896C>A (p.Pro3632=)
|
rs200903643
|
0.00004
|
NM_001376.5(DYNC1H1):c.11873G>T (p.Gly3958Val)
|
rs150118849
|
0.00004
|
NM_001376.5(DYNC1H1):c.13152G>A (p.Ala4384=)
|
rs536121075
|
0.00004
|
NM_001376.5(DYNC1H1):c.7193G>A (p.Arg2398His)
|
rs912429154
|
0.00004
|
NM_001376.5(DYNC1H1):c.7431C>T (p.Pro2477=)
|
rs375687099
|
0.00004
|
NM_001376.5(DYNC1H1):c.7821C>T (p.Ser2607=)
|
rs375547282
|
0.00004
|
NM_001377.3(DYNC2H1):c.11929A>C (p.Ile3977Leu)
|
rs757571550
|
0.00004
|
NM_001378120.1(MBD5):c.3952G>A (p.Val1318Ile)
|
rs199626531
|
0.00004
|
NM_001378964.1(CDON):c.2567A>G (p.Asn856Ser)
|
rs768131084
|
0.00004
|
NM_001386393.1(PANK2):c.18G>A (p.Gly6=)
|
rs750766653
|
0.00004
|
NM_001395413.1(POR):c.1389+15T>A
|
rs782664345
|
0.00004
|
NM_001395413.1(POR):c.1661-4G>A
|
rs372733766
|
0.00004
|
NM_001395413.1(POR):c.938+10G>A
|
rs781980999
|
0.00004
|
NM_001457.4(FLNB):c.1451G>C (p.Ser484Thr)
|
rs199589693
|
0.00004
|
NM_001457.4(FLNB):c.1692C>T (p.Val564=)
|
rs749242473
|
0.00004
|
NM_001457.4(FLNB):c.2575+12C>T
|
rs750560502
|
0.00004
|
NM_001457.4(FLNB):c.3898+7C>T
|
rs369277252
|
0.00004
|
NM_001457.4(FLNB):c.5327T>C (p.Ile1776Thr)
|
rs1343990349
|
0.00004
|
NM_001457.4(FLNB):c.5917G>A (p.Glu1973Lys)
|
rs368965386
|
0.00004
|
NM_001457.4(FLNB):c.6003C>T (p.Asp2001=)
|
rs184065600
|
0.00004
|
NM_001457.4(FLNB):c.6531C>T (p.Thr2177=)
|
rs778562859
|
0.00004
|
NM_001558.4(IL10RA):c.1539G>A (p.Thr513=)
|
rs372503247
|
0.00004
|
NM_001558.4(IL10RA):c.67+15C>T
|
rs886047708
|
0.00004
|
NM_001613.4(ACTA2):c.420G>A (p.Ala140=)
|
rs762567614
|
0.00004
|
NM_001754.4(RUNX1):c.97+4T>G
|
rs754042987
|
0.00004
|
NM_001754.5(RUNX1):c.59-12C>G
|
rs202245096
|
0.00004
|
NM_001844.5(COL2A1):c.3120C>T (p.Pro1040=)
|
rs367982631
|
0.00004
|
NM_001875.5(CPS1):c.712-11C>T
|
rs561995236
|
0.00004
|
NM_001943.5(DSG2):c.2959G>T (p.Val987Phe)
|
rs141405267
|
0.00004
|
NM_001943.5(DSG2):c.390C>T (p.Tyr130=)
|
rs369489095
|
0.00004
|
NM_001999.4(FBN2):c.1078+12A>C
|
rs769211487
|
0.00004
|
NM_001999.4(FBN2):c.1968T>C (p.Cys656=)
|
rs750685055
|
0.00004
|
NM_002103.5(GYS1):c.303G>A (p.Val101=)
|
rs1391443496
|
0.00004
|
NM_002185.5(IL7R):c.379+8G>A
|
rs111370546
|
0.00004
|
NM_002185.5(IL7R):c.800+10T>C
|
rs202114203
|
0.00004
|
NM_002187.3(IL12B):c.960C>T (p.Ser320=)
|
rs752964137
|
0.00004
|
NM_002234.4(KCNA5):c.1539C>T (p.Pro513=)
|
rs145832242
|
0.00004
|
NM_002292.4(LAMB2):c.1391G>A (p.Arg464His)
|
rs188487818
|
0.00004
|
NM_002292.4(LAMB2):c.2262G>A (p.Leu754=)
|
rs756931255
|
0.00004
|
NM_002292.4(LAMB2):c.4369C>T (p.Arg1457Trp)
|
rs151037751
|
0.00004
|
NM_002435.3(MPI):c.1053+15A>G
|
rs564765063
|
0.00004
|
NM_002454.3(MTRR):c.27T>C (p.Ala9=)
|
rs114748706
|
0.00004
|
NM_002474.3(MYH11):c.2860-14C>G
|
rs371582357
|
0.00004
|
NM_002474.3(MYH11):c.5454G>A (p.Ala1818=)
|
rs374486989
|
0.00004
|
NM_002485.5(NBN):c.1089C>T (p.Tyr363=)
|
rs121908974
|
0.00004
|
NM_002529.4(NTRK1):c.1252-6C>G
|
rs776728101
|
0.00004
|
NM_002529.4(NTRK1):c.288-5C>T
|
rs200860423
|
0.00004
|
NM_002863.5(PYGL):c.1519-15C>A
|
rs372886463
|
0.00004
|
NM_002890.3(RASA1):c.2608T>C (p.Leu870=)
|
rs372498033
|
0.00004
|
NM_003060.4(SLC22A5):c.1113C>T (p.Asp371=)
|
rs200637508
|
0.00004
|
NM_003119.4(SPG7):c.1266C>T (p.Ser422=)
|
rs767857665
|
0.00004
|
NM_003119.4(SPG7):c.184-4T>C
|
rs533778042
|
0.00004
|
NM_003119.4(SPG7):c.656T>C (p.Ile219Thr)
|
rs114255772
|
0.00004
|
NM_003242.6(TGFBR2):c.696C>T (p.Ala232=)
|
rs768508812
|
0.00004
|
NM_003289.4(TPM2):c.374+9G>C
|
rs200730708
|
0.00004
|
NM_003331.5(TYK2):c.1254G>A (p.Ser418=)
|
rs201945206
|
0.00004
|
NM_003331.5(TYK2):c.1839C>T (p.Ser613=)
|
rs748006603
|
0.00004
|
NM_003331.5(TYK2):c.1968C>T (p.Tyr656=)
|
rs764154157
|
0.00004
|
NM_003465.3(CHIT1):c.26-4C>A
|
rs753899130
|
0.00004
|
NM_003680.4(YARS1):c.414C>T (p.Ser138=)
|
rs762551221
|
0.00004
|
NM_003680.4(YARS1):c.685-11A>G
|
rs751943571
|
0.00004
|
NM_003742.4(ABCB11):c.810G>A (p.Glu270=)
|
rs369671177
|
0.00004
|
NM_003850.3(SUCLA2):c.1320T>C (p.Val440=)
|
rs140383237
|
0.00004
|
NM_003859.3(DPM1):c.570C>T (p.Tyr190=)
|
rs754109868
|
0.00004
|
NM_003907.3(EIF2B5):c.453G>A (p.Val151=)
|
rs376258328
|
0.00004
|
NM_004076.5(CRYBB3):c.213C>T (p.Ser71=)
|
rs201863246
|
0.00004
|
NM_004239.4(TRIP11):c.2829T>C (p.Phe943=)
|
rs758437737
|
0.00004
|
NM_004239.4(TRIP11):c.438C>T (p.Phe146=)
|
rs371786500
|
0.00004
|
NM_004273.5(CHST3):c.540C>T (p.Asn180=)
|
rs748812857
|
0.00004
|
NM_004304.5(ALK):c.1044C>T (p.Ala348=)
|
rs200293454
|
0.00004
|
NM_004304.5(ALK):c.32C>T (p.Pro11Leu)
|
rs767822322
|
0.00004
|
NM_004304.5(ALK):c.930G>T (p.Glu310Asp)
|
rs367712624
|
0.00004
|
NM_004320.6(ATP2A1):c.220-11C>T
|
rs369161791
|
0.00004
|
NM_004320.6(ATP2A1):c.765G>A (p.Glu255=)
|
rs200531611
|
0.00004
|
NM_004415.4(DSP):c.1469G>A (p.Arg490His)
|
rs747815091
|
0.00004
|
NM_004415.4(DSP):c.2360A>G (p.Tyr787Cys)
|
rs778350289
|
0.00004
|
NM_004415.4(DSP):c.264C>T (p.Ile88=)
|
rs727502997
|
0.00004
|
NM_004415.4(DSP):c.3904C>T (p.Arg1302Cys)
|
rs775594375
|
0.00004
|
NM_004453.4(ETFDH):c.488-12A>C
|
rs180889150
|
0.00004
|
NM_004525.3(LRP2):c.770-12T>C
|
rs138572086
|
0.00004
|
NM_004562.3(PRKN):c.1000C>T (p.Arg334Cys)
|
rs199657839
|
0.00004
|
NM_004656.4(BAP1):c.878C>T (p.Pro293Leu)
|
rs777664260
|
0.00004
|
NM_005327.7(HADH):c.710-14C>T
|
rs185267497
|
0.00004
|
NM_005359.6(SMAD4):c.1653A>G (p.Leu551=)
|
rs199526820
|
0.00004
|
NM_005535.3(IL12RB1):c.1179G>A (p.Pro393=)
|
rs145095951
|
0.00004
|
NM_005591.4(MRE11):c.1783+7A>G
|
rs774520952
|
0.00004
|
NM_005591.4(MRE11):c.940C>T (p.Leu314=)
|
rs368362407
|
0.00004
|
NM_005609.4(PYGM):c.1266C>T (p.Asp422=)
|
rs769602726
|
0.00004
|
NM_005751.5(AKAP9):c.6946-12A>G
|
rs375657019
|
0.00004
|
NM_005996.4(TBX3):c.2004G>A (p.Ser668=)
|
rs139599654
|
0.00004
|
NM_005996.4(TBX3):c.390-9G>A
|
rs753151479
|
0.00004
|
NM_006005.3(WFS1):c.1507G>A (p.Val503Ile)
|
rs573775230
|
0.00004
|
NM_006005.3(WFS1):c.168C>T (p.Asp56=)
|
rs112598170
|
0.00004
|
NM_006005.3(WFS1):c.2664G>A (p.Ser888=)
|
rs756116434
|
0.00004
|
NM_006005.3(WFS1):c.375C>T (p.Thr125=)
|
rs762324196
|
0.00004
|
NM_006019.4(TCIRG1):c.1904C>T (p.Thr635Met)
|
rs763119311
|
0.00004
|
NM_006129.5(BMP1):c.2166C>T (p.Phe722=)
|
rs149426277
|
0.00004
|
NM_006371.5(CRTAP):c.111A>G (p.Pro37=)
|
rs772038741
|
0.00004
|
NM_006757.4(TNNT3):c.417C>T (p.Asp139=)
|
rs367932695
|
0.00004
|
NM_006892.4(DNMT3B):c.1490+9T>C
|
rs370659978
|
0.00004
|
NM_006892.4(DNMT3B):c.1542C>T (p.Ala514=)
|
rs140714949
|
0.00004
|
NM_006892.4(DNMT3B):c.408C>T (p.Ser136=)
|
rs111877243
|
0.00004
|
NM_006949.4(STXBP2):c.1452+7G>T
|
rs746604591
|
0.00004
|
NM_006949.4(STXBP2):c.1453-6C>T
|
rs200538123
|
0.00004
|
NM_006949.4(STXBP2):c.1671C>T (p.Thr557=)
|
rs750599225
|
0.00004
|
NM_007078.3(LDB3):c.689+3861C>T
|
rs754704023
|
0.00004
|
NM_007078.3(LDB3):c.690-4617G>A
|
rs754174632
|
0.00004
|
NM_007194.4(CHEK2):c.1336A>G (p.Asn446Asp)
|
rs121908705
|
0.00004
|
NM_007194.4(CHEK2):c.15G>A (p.Ser5=)
|
rs145183886
|
0.00004
|
NM_007272.3(CTRC):c.81C>T (p.Ser27=)
|
rs749455108
|
0.00004
|
NM_007375.4(TARDBP):c.57A>G (p.Pro19=)
|
rs532319219
|
0.00004
|
NM_012073.5(CCT5):c.1075G>A (p.Val359Ile)
|
rs147989324
|
0.00004
|
NM_012179.4(FBXO7):c.1535G>A (p.Gly512Asp)
|
rs142471722
|
0.00004
|
NM_013339.4(ALG6):c.156G>A (p.Pro52=)
|
rs751004049
|
0.00004
|
NM_013339.4(ALG6):c.167+7T>C
|
rs374146302
|
0.00004
|
NM_014000.3(VCL):c.1177-14G>A
|
rs778137720
|
0.00004
|
NM_014000.3(VCL):c.1607C>A (p.Pro536His)
|
rs200624351
|
0.00004
|
NM_014000.3(VCL):c.2472C>G (p.Ile824Met)
|
rs140381835
|
0.00004
|
NM_014000.3(VCL):c.2746-8C>T
|
rs532645343
|
0.00004
|
NM_014000.3(VCL):c.45G>A (p.Pro15=)
|
rs775062250
|
0.00004
|
NM_014140.4(SMARCAL1):c.1147+8G>A
|
rs759562755
|
0.00004
|
NM_014140.4(SMARCAL1):c.1251G>A (p.Thr417=)
|
rs372331472
|
0.00004
|
NM_014141.6(CNTNAP2):c.1623G>A (p.Pro541=)
|
rs146873712
|
0.00004
|
NM_014244.5(ADAMTS2):c.1914C>T (p.Asp638=)
|
rs752737484
|
0.00004
|
NM_014244.5(ADAMTS2):c.2145C>T (p.Cys715=)
|
rs372661052
|
0.00004
|
NM_014244.5(ADAMTS2):c.2751-15G>A
|
rs376602983
|
0.00004
|
NM_014244.5(ADAMTS2):c.762G>A (p.Arg254=)
|
rs753246905
|
0.00004
|
NM_014249.4(NR2E3):c.444T>C (p.Ala148=)
|
rs533192044
|
0.00004
|
NM_014252.4(SLC25A15):c.255C>T (p.Tyr85=)
|
rs536354947
|
0.00004
|
NM_014339.7(IL17RA):c.1045+6C>T
|
rs763664351
|
0.00004
|
NM_014339.7(IL17RA):c.1381C>T (p.Arg461Trp)
|
rs554211497
|
0.00004
|
NM_014363.6(SACS):c.1224C>T (p.Asp408=)
|
rs2274386
|
0.00004
|
NM_014363.6(SACS):c.151C>T (p.Leu51=)
|
rs979224977
|
0.00004
|
NM_014363.6(SACS):c.1791A>T (p.Ser597=)
|
rs371175405
|
0.00004
|
NM_014363.6(SACS):c.5461T>C (p.Cys1821Arg)
|
rs376680832
|
0.00004
|
NM_014363.6(SACS):c.6561C>T (p.Ile2187=)
|
rs143477126
|
0.00004
|
NM_014714.4(IFT140):c.2424G>A (p.Ala808=)
|
rs375979698
|
0.00004
|
NM_014714.4(IFT140):c.3252G>A (p.Ala1084=)
|
rs375975334
|
0.00004
|
NM_014714.4(IFT140):c.4182+15C>T
|
rs374874160
|
0.00004
|
NM_014714.4(IFT140):c.4350G>A (p.Leu1450=)
|
rs750381445
|
0.00004
|
NM_014855.3(AP5Z1):c.540G>A (p.Leu180=)
|
rs768017182
|
0.00004
|
NM_014855.3(AP5Z1):c.660A>G (p.Thr220=)
|
rs756140557
|
0.00004
|
NM_014874.4(MFN2):c.1269G>A (p.Thr423=)
|
rs145994616
|
0.00004
|
NM_014946.4(SPAST):c.441A>G (p.Glu147=)
|
rs375027118
|
0.00004
|
NM_015166.4(MLC1):c.1032C>T (p.Asn344=)
|
rs199707637
|
0.00004
|
NM_015192.4(PLCB1):c.1764-6G>C
|
rs753832760
|
0.00004
|
NM_015272.5(RPGRIP1L):c.3882A>G (p.Val1294=)
|
rs759935029
|
0.00004
|
NM_015474.4(SAMHD1):c.993C>T (p.Tyr331=)
|
rs775726168
|
0.00004
|
NM_015702.3(MMADHC):c.696+13C>A
|
rs199528296
|
0.00004
|
NM_016219.5(MAN1B1):c.1695G>A (p.Thr565=)
|
rs372125925
|
0.00004
|
NM_016219.5(MAN1B1):c.426G>A (p.Ala142=)
|
rs199738190
|
0.00004
|
NM_016219.5(MAN1B1):c.620+9C>T
|
rs535697514
|
0.00004
|
NM_016277.5(RAB23):c.54A>G (p.Gly18=)
|
rs767442221
|
0.00004
|
NM_018006.5(TRMU):c.1164G>A (p.Pro388=)
|
rs202047181
|
0.00004
|
NM_018006.5(TRMU):c.1218C>T (p.Ser406=)
|
rs754239335
|
0.00004
|
NM_018648.4(NOP10):c.51G>C (p.Leu17=)
|
rs761222362
|
0.00004
|
NM_019892.6(INPP5E):c.1388-5C>T
|
rs187956407
|
0.00004
|
NM_020297.4(ABCC9):c.3589C>T (p.Arg1197Cys)
|
rs778849288
|
0.00004
|
NM_020320.5(RARS2):c.245G>A (p.Ser82Asn)
|
rs749061654
|
0.00004
|
NM_020376.4(PNPLA2):c.747G>A (p.Leu249=)
|
rs140959695
|
0.00004
|
NM_020376.4(PNPLA2):c.806C>T (p.Pro269Leu)
|
rs201894536
|
0.00004
|
NM_020533.3(MCOLN1):c.1719G>A (p.Glu573=)
|
rs201076545
|
0.00004
|
NM_020533.3(MCOLN1):c.984+13C>T
|
rs376284815
|
0.00004
|
NM_020686.6(ABAT):c.555G>A (p.Gly185=)
|
rs147765799
|
0.00004
|
NM_020919.4(ALS2):c.886G>A (p.Ala296Thr)
|
rs765049503
|
0.00004
|
NM_020975.6(RET):c.693C>T (p.Arg231=)
|
rs576806329
|
0.00004
|
NM_021625.5(TRPV4):c.205A>C (p.Met69Leu)
|
rs200199102
|
0.00004
|
NM_021957.4(GYS2):c.942-12G>A
|
rs367916210
|
0.00004
|
NM_022041.4(GAN):c.444C>T (p.His148=)
|
rs764605890
|
0.00004
|
NM_022041.4(GAN):c.75G>A (p.Glu25=)
|
rs754548795
|
0.00004
|
NM_022124.6(CDH23):c.1584C>T (p.Arg528=)
|
rs397517309
|
0.00004
|
NM_022124.6(CDH23):c.1665C>T (p.Asn555=)
|
rs397517310
|
0.00004
|
NM_022124.6(CDH23):c.1719C>T (p.Asn573=)
|
rs761913744
|
0.00004
|
NM_022124.6(CDH23):c.3915C>T (p.Asn1305=)
|
rs568924674
|
0.00004
|
NM_022124.6(CDH23):c.6138C>T (p.Ile2046=)
|
rs568741210
|
0.00004
|
NM_022124.6(CDH23):c.8931C>T (p.His2977=)
|
rs781099726
|
0.00004
|
NM_022436.3(ABCG5):c.1411G>A (p.Val471Ile)
|
rs143402711
|
0.00004
|
NM_022436.3(ABCG5):c.1569C>T (p.Ile523=)
|
rs376969021
|
0.00004
|
NM_024422.6(DSC2):c.408A>G (p.Arg136=)
|
rs561653481
|
0.00004
|
NM_024513.4(FYCO1):c.3831C>T (p.Asp1277=)
|
rs755502918
|
0.00004
|
NM_024589.3(ROGDI):c.555G>C (p.Pro185=)
|
rs771793763
|
0.00004
|
NM_024649.5(BBS1):c.432+13C>T
|
rs759287238
|
0.00004
|
NM_025137.4(SPG11):c.36C>T (p.Ser12=)
|
rs368656047
|
0.00004
|
NM_025237.3(SOST):c.147G>A (p.Glu49=)
|
rs749432078
|
0.00004
|
NM_030787.4(CFHR5):c.608-6T>C
|
rs373318468
|
0.00004
|
NM_031433.4(MFRP):c.271+10C>T
|
rs554865241
|
0.00004
|
NM_031433.4(MFRP):c.321C>T (p.Ala107=)
|
rs562580805
|
0.00004
|
NM_031885.5(BBS2):c.744T>C (p.His248=)
|
rs186893286
|
0.00004
|
NM_032520.5(GNPTG):c.412-14C>T
|
rs528538033
|
0.00004
|
NM_032581.4(HYCC1):c.1044C>T (p.Asp348=)
|
rs768075744
|
0.00004
|
NM_032634.4(PIGO):c.468C>T (p.His156=)
|
rs374876329
|
0.00004
|
NM_033343.4(LHX4):c.837C>T (p.Asp279=)
|
rs150931176
|
0.00004
|
NM_052859.4(RFT1):c.1208+15A>G
|
rs1448297165
|
0.00004
|
NM_052859.4(RFT1):c.1344C>T (p.Cys448=)
|
rs369135875
|
0.00004
|
NM_052945.4(TNFRSF13C):c.307C>A (p.Arg103=)
|
rs369626832
|
0.00004
|
NM_053025.4(MYLK):c.1213A>G (p.Met405Val)
|
rs35436690
|
0.00004
|
NM_053025.4(MYLK):c.374-9T>C
|
rs376695367
|
0.00004
|
NM_053025.4(MYLK):c.4302A>G (p.Glu1434=)
|
rs145872838
|
0.00004
|
NM_053025.4(MYLK):c.969G>A (p.Glu323=)
|
rs368095613
|
0.00004
|
NM_054012.4(ASS1):c.566+11C>T
|
rs200527708
|
0.00004
|
NM_058246.4(DNAJB6):c.347-14A>T
|
rs368036062
|
0.00004
|
NM_080680.3(COL11A2):c.3267G>A (p.Val1089=)
|
rs781462105
|
0.00004
|
NM_080680.3(COL11A2):c.3883G>A (p.Glu1295Lys)
|
rs758507327
|
0.00004
|
NM_080911.3(UNG):c.81C>A (p.Ala27=)
|
rs761928219
|
0.00004
|
NM_130849.4(SLC39A4):c.594C>T (p.Ala198=)
|
rs782355343
|
0.00004
|
NM_133259.4(LRPPRC):c.114C>T (p.Ser38=)
|
rs886056063
|
0.00004
|
NM_133433.4(NIPBL):c.2931A>G (p.Glu977=)
|
rs587783913
|
0.00004
|
NM_138694.4(PKHD1):c.150T>G (p.Leu50=)
|
rs529214120
|
0.00004
|
NM_138694.4(PKHD1):c.2079G>T (p.Leu693=)
|
rs746441159
|
0.00004
|
NM_138694.4(PKHD1):c.8173+12C>T
|
rs368093611
|
0.00004
|
NM_144687.4(NLRP12):c.289+13C>T
|
rs776591533
|
0.00004
|
NM_152564.5(VPS13B):c.10932C>T (p.Asn3644=)
|
rs745337140
|
0.00004
|
NM_152564.5(VPS13B):c.9876T>G (p.Val3292=)
|
rs143728471
|
0.00004
|
NM_152618.3(BBS12):c.1995T>C (p.Val665=)
|
rs771980986
|
0.00004
|
NM_152618.3(BBS12):c.2100T>C (p.Asn700=)
|
rs145847043
|
0.00004
|
NM_153006.3(NAGS):c.429G>A (p.Val143=)
|
rs199976538
|
0.00004
|
NM_153603.4(COG7):c.1137+9G>A
|
rs746762111
|
0.00004
|
NM_153603.4(COG7):c.963C>T (p.Thr321=)
|
rs762510375
|
0.00004
|
NM_153717.3(EVC):c.717T>A (p.Ile239=)
|
rs372312182
|
0.00004
|
NM_170707.4(LMNA):c.936+12C>T
|
rs199881992
|
0.00004
|
NM_174936.4(PCSK9):c.627C>T (p.Pro209=)
|
rs375892354
|
0.00004
|
NM_177438.3(DICER1):c.2951A>G (p.Asn984Ser)
|
rs750932552
|
0.00004
|
NM_177438.3(DICER1):c.897G>A (p.Ser299=)
|
rs201842071
|
0.00004
|
NM_178170.3(NEK8):c.1039G>A (p.Val347Ile)
|
rs372172665
|
0.00004
|
NM_178170.3(NEK8):c.1251C>T (p.Ser417=)
|
rs149239987
|
0.00004
|
NM_182760.4(SUMF1):c.726-14G>T
|
rs370793169
|
0.00004
|
NM_182914.3(SYNE2):c.13917+10C>T
|
rs760288753
|
0.00004
|
NM_183235.3(RAB27A):c.168T>C (p.Ser56=)
|
rs376232909
|
0.00004
|
NM_198525.3(KIF7):c.1290C>T (p.Pro430=)
|
rs886051534
|
0.00004
|
NM_198525.3(KIF7):c.3123G>A (p.Thr1041=)
|
rs146808726
|
0.00004
|
NM_198525.3(KIF7):c.3486G>A (p.Gln1162=)
|
rs185689321
|
0.00004
|
NM_198578.4(LRRK2):c.3969A>G (p.Gln1323=)
|
rs372245035
|
0.00004
|
NM_199242.3(UNC13D):c.2002C>T (p.Arg668Cys)
|
rs376137910
|
0.00004
|
NM_199242.3(UNC13D):c.2496G>A (p.Ala832=)
|
rs763343306
|
0.00004
|
NM_199242.3(UNC13D):c.3067C>T (p.Arg1023Cys)
|
rs140599939
|
0.00004
|
NM_203486.3(DLL3):c.984C>T (p.Val328=)
|
rs138378695
|
0.00004
|
NM_206933.4(USH2A):c.1530C>T (p.Asp510=)
|
rs200940197
|
0.00004
|
NM_206933.4(USH2A):c.3780T>C (p.His1260=)
|
rs759937489
|
0.00004
|
NM_000018.4(ACADVL):c.343-14T>C
|
rs200368309
|
0.00003
|
NM_000026.4(ADSL):c.763C>T (p.Leu255=)
|
rs771049726
|
0.00003
|
NM_000038.6(APC):c.1312+12A>G
|
rs372970635
|
0.00003
|
NM_000038.6(APC):c.757G>A (p.Gly253Ser)
|
rs772806807
|
0.00003
|
NM_000051.4(ATM):c.275A>C (p.Lys92Thr)
|
rs200151849
|
0.00003
|
NM_000051.4(ATM):c.3300G>A (p.Thr1100=)
|
rs587780621
|
0.00003
|
NM_000051.4(ATM):c.6234C>T (p.Ser2078=)
|
rs569483748
|
0.00003
|
NM_000051.4(ATM):c.6465G>A (p.Val2155=)
|
rs140423883
|
0.00003
|
NM_000053.4(ATP7B):c.1543+14G>A
|
rs770362811
|
0.00003
|
NM_000053.4(ATP7B):c.2484C>T (p.Gly828=)
|
rs570594838
|
0.00003
|
NM_000059.4(BRCA2):c.3581G>A (p.Gly1194Asp)
|
rs28897721
|
0.00003
|
NM_000071.3(CBS):c.924C>T (p.Tyr308=)
|
rs149809170
|
0.00003
|
NM_000079.4(CHRNA1):c.912C>T (p.Phe304=)
|
rs373005571
|
0.00003
|
NM_000080.4(CHRNE):c.802+7A>C
|
rs756213406
|
0.00003
|
NM_000081.4(LYST):c.10758C>T (p.Cys3586=)
|
rs145136281
|
0.00003
|
NM_000081.4(LYST):c.4566A>C (p.Ala1522=)
|
rs142344106
|
0.00003
|
NM_000081.4(LYST):c.4632C>T (p.Ser1544=)
|
rs373930104
|
0.00003
|
NM_000090.4(COL3A1):c.3576C>T (p.Ala1192=)
|
rs574331101
|
0.00003
|
NM_000094.4(COL7A1):c.4782+9A>T
|
rs369635501
|
0.00003
|
NM_000096.4(CP):c.1575A>G (p.Val525=)
|
rs760634973
|
0.00003
|
NM_000098.3(CPT2):c.852C>T (p.Pro284=)
|
rs138575554
|
0.00003
|
NM_000100.4(CSTB):c.9C>T (p.Cys3=)
|
rs555930471
|
0.00003
|
NM_000126.4(ETFA):c.720A>G (p.Gln240=)
|
rs756864231
|
0.00003
|
NM_000130.5(F5):c.1034G>A (p.Arg345Gln)
|
rs201078171
|
0.00003
|
NM_000130.5(F5):c.738A>G (p.Thr246=)
|
rs375739973
|
0.00003
|
NM_000135.4(FANCA):c.1209G>A (p.Ala403=)
|
rs773318145
|
0.00003
|
NM_000135.4(FANCA):c.2958C>T (p.Asn986=)
|
rs368953287
|
0.00003
|
NM_000136.3(FANCC):c.438T>C (p.Tyr146=)
|
rs765990832
|
0.00003
|
NM_000137.4(FAH):c.1029G>A (p.Gly343=)
|
rs772334351
|
0.00003
|
NM_000138.5(FBN1):c.2930T>G (p.Met977Arg)
|
rs199682686
|
0.00003
|
NM_000138.5(FBN1):c.7241G>A (p.Arg2414Gln)
|
rs143863014
|
0.00003
|
NM_000138.5(FBN1):c.8202C>T (p.Asn2734=)
|
rs113904256
|
0.00003
|
NM_000143.4(FH):c.305C>T (p.Ala102Val)
|
rs61753295
|
0.00003
|
NM_000151.4(G6PC1):c.993G>A (p.Ala331=)
|
rs369238258
|
0.00003
|
NM_000152.5(GAA):c.1075+12T>G
|
rs370842677
|
0.00003
|
NM_000152.5(GAA):c.2154C>T (p.Val718=)
|
rs1800311
|
0.00003
|
NM_000152.5(GAA):c.955+14C>A
|
rs756921041
|
0.00003
|
NM_000159.4(GCDH):c.876C>T (p.Asn292=)
|
rs1438245420
|
0.00003
|
NM_000162.5(GCK):c.198A>G (p.Pro66=)
|
rs377410513
|
0.00003
|
NM_000170.3(GLDC):c.1453T>C (p.Leu485=)
|
rs760562478
|
0.00003
|
NM_000179.3(MSH6):c.240A>G (p.Val80=)
|
rs864622281
|
0.00003
|
NM_000187.4(HGD):c.765T>C (p.Ala255=)
|
rs747764475
|
0.00003
|
NM_000207.3(INS):c.66C>T (p.Ala22=)
|
rs375371953
|
0.00003
|
NM_000214.3(JAG1):c.48C>A (p.Leu16=)
|
rs901489977
|
0.00003
|
NM_000215.4(JAK3):c.3213C>T (p.His1071=)
|
rs757910571
|
0.00003
|
NM_000215.4(JAK3):c.3267C>T (p.Ser1089=)
|
rs138593705
|
0.00003
|
NM_000217.3(KCNA1):c.1464G>A (p.Lys488=)
|
rs147828649
|
0.00003
|
NM_000235.4(LIPA):c.111+13A>G
|
rs375237841
|
0.00003
|
NM_000237.3(LPL):c.112G>A (p.Glu38Lys)
|
rs557015233
|
0.00003
|
NM_000243.3(MEFV):c.1758T>C (p.Asn586=)
|
rs202228332
|
0.00003
|
NM_000243.3(MEFV):c.1803T>A (p.Ile601=)
|
rs779572391
|
0.00003
|
NM_000243.3(MEFV):c.2164G>A (p.Val722Met)
|
rs104895201
|
0.00003
|
NM_000246.4(CIITA):c.2409G>A (p.Ala803=)
|
rs755302593
|
0.00003
|
NM_000246.4(CIITA):c.2442C>T (p.His814=)
|
rs746490057
|
0.00003
|
NM_000246.4(CIITA):c.3357C>T (p.His1119=)
|
rs754706834
|
0.00003
|
NM_000246.4(CIITA):c.948G>A (p.Thr316=)
|
rs369971838
|
0.00003
|
NM_000249.4(MLH1):c.1730C>T (p.Ser577Leu)
|
rs56185292
|
0.00003
|
NM_000249.4(MLH1):c.1743G>A (p.Pro581=)
|
rs567838745
|
0.00003
|
NM_000249.4(MLH1):c.539T>G (p.Val180Gly)
|
rs63750102
|
0.00003
|
NM_000251.3(MSH2):c.2211-5T>G
|
rs368596736
|
0.00003
|
NM_000251.3(MSH2):c.2801C>A (p.Thr934Lys)
|
rs587779969
|
0.00003
|
NM_000255.4(MMUT):c.1614C>T (p.Thr538=)
|
rs766999822
|
0.00003
|
NM_000256.3(MYBPC3):c.3191-7C>T
|
rs373012629
|
0.00003
|
NM_000256.3(MYBPC3):c.927-10C>T
|
rs201078659
|
0.00003
|
NM_000257.4(MYH7):c.1983C>T (p.Asn661=)
|
rs146474860
|
0.00003
|
NM_000257.4(MYH7):c.540C>A (p.Ser180=)
|
rs369490861
|
0.00003
|
NM_000264.5(PTCH1):c.2184G>A (p.Thr728=)
|
rs201103723
|
0.00003
|
NM_000264.5(PTCH1):c.46G>A (p.Gly16Ser)
|
rs1057515721
|
0.00003
|
NM_000271.5(NPC1):c.2130+10C>G
|
rs776389852
|
0.00003
|
NM_000271.5(NPC1):c.2820G>A (p.Ser940=)
|
rs754664476
|
0.00003
|
NM_000271.5(NPC1):c.2832C>T (p.Asp944=)
|
rs780019300
|
0.00003
|
NM_000288.4(PEX7):c.576C>T (p.Ile192=)
|
rs776411851
|
0.00003
|
NM_000288.4(PEX7):c.903+8A>G
|
rs779919482
|
0.00003
|
NM_000293.3(PHKB):c.204C>T (p.Thr68=)
|
rs759882590
|
0.00003
|
NM_000302.4(PLOD1):c.1818C>A (p.Ile606=)
|
rs372579008
|
0.00003
|
NM_000302.4(PLOD1):c.303-10C>T
|
rs750987724
|
0.00003
|
NM_000302.4(PLOD1):c.813C>T (p.Asp271=)
|
rs373471550
|
0.00003
|
NM_000303.3(PMM2):c.597C>T (p.Asp199=)
|
rs376412367
|
0.00003
|
NM_000306.4(POU1F1):c.456T>C (p.Asn152=)
|
rs886058914
|
0.00003
|
NM_000308.4(CTSA):c.692+13G>A
|
rs371053390
|
0.00003
|
NM_000334.4(SCN4A):c.354C>T (p.Ser118=)
|
rs753453769
|
0.00003
|
NM_000335.5(SCN5A):c.21T>A (p.Pro7=)
|
rs587781157
|
0.00003
|
NM_000341.4(SLC3A1):c.1826A>G (p.Asn609Ser)
|
rs200592320
|
0.00003
|
NM_000350.3(ABCA4):c.1937+15C>T
|
rs774567553
|
0.00003
|
NM_000355.4(TCN2):c.882C>T (p.Pro294=)
|
rs142689742
|
0.00003
|
NM_000359.3(TGM1):c.2337C>T (p.His779=)
|
rs755635993
|
0.00003
|
NM_000360.4(TH):c.171C>T (p.Ala57=)
|
rs771152796
|
0.00003
|
NM_000368.5(TSC1):c.2357G>A (p.Arg786Gln)
|
rs1336228562
|
0.00003
|
NM_000368.5(TSC1):c.2968G>A (p.Glu990Lys)
|
rs200398750
|
0.00003
|
NM_000368.5(TSC1):c.3428C>T (p.Pro1143Leu)
|
rs201867031
|
0.00003
|
NM_000410.4(HFE):c.-7T>C
|
rs369807746
|
0.00003
|
NM_000426.4(LAMA2):c.5553C>T (p.Ser1851=)
|
rs781341719
|
0.00003
|
NM_000426.4(LAMA2):c.6429+10T>G
|
rs770063449
|
0.00003
|
NM_000426.4(LAMA2):c.7479C>T (p.Ser2493=)
|
rs368989339
|
0.00003
|
NM_000433.4(NCF2):c.837G>A (p.Thr279=)
|
rs942486247
|
0.00003
|
NM_000439.5(PCSK1):c.1503C>T (p.Ile501=)
|
rs199524465
|
0.00003
|
NM_000441.2(SLC26A4):c.1068C>T (p.Ile356=)
|
rs886061885
|
0.00003
|
NM_000441.2(SLC26A4):c.601-5C>T
|
rs546450643
|
0.00003
|
NM_000455.5(STK11):c.374+9T>A
|
rs762297795
|
0.00003
|
NM_000466.3(PEX1):c.3165A>G (p.Gln1055=)
|
rs776231556
|
0.00003
|
NM_000484.4(APP):c.1458+10G>A
|
rs201290605
|
0.00003
|
NM_000487.6(ARSA):c.225-4G>A
|
rs372937480
|
0.00003
|
NM_000487.6(ARSA):c.369C>T (p.Ala123=)
|
rs886057657
|
0.00003
|
NM_000488.4(SERPINC1):c.594T>C (p.Tyr198=)
|
rs183416252
|
0.00003
|
NM_000527.5(LDLR):c.186G>A (p.Thr62=)
|
rs55958434
|
0.00003
|
NM_000540.3(RYR1):c.10053G>A (p.Pro3351=)
|
rs774096421
|
0.00003
|
NM_000540.3(RYR1):c.10619A>T (p.Tyr3540Phe)
|
rs752477271
|
0.00003
|
NM_000540.3(RYR1):c.11193+15C>G
|
rs370928637
|
0.00003
|
NM_000540.3(RYR1):c.12840G>T (p.Ala4280=)
|
rs1292456827
|
0.00003
|
NM_000540.3(RYR1):c.13369A>T (p.Met4457Leu)
|
rs867851900
|
0.00003
|
NM_000540.3(RYR1):c.2937G>A (p.Ala979=)
|
rs775442275
|
0.00003
|
NM_000540.3(RYR1):c.4339G>A (p.Val1447Met)
|
rs370851779
|
0.00003
|
NM_000540.3(RYR1):c.537+13G>A
|
rs754569485
|
0.00003
|
NM_000540.3(RYR1):c.6078G>A (p.Glu2026=)
|
rs201310026
|
0.00003
|
NM_000540.3(RYR1):c.6318C>A (p.Ala2106=)
|
rs769443054
|
0.00003
|
NM_000540.3(RYR1):c.7755C>T (p.Thr2585=)
|
rs768702294
|
0.00003
|
NM_000553.6(WRN):c.1296C>T (p.Asn432=)
|
rs772082980
|
0.00003
|
NM_000642.3(AGL):c.3345A>T (p.Gly1115=)
|
rs758265909
|
0.00003
|
NM_000687.4(AHCY):c.29-4G>A
|
rs774846394
|
0.00003
|
NM_000687.4(AHCY):c.445+11C>T
|
rs375253690
|
0.00003
|
NM_000709.4(BCKDHA):c.108+12G>A
|
rs780834493
|
0.00003
|
NM_000709.4(BCKDHA):c.330A>T (p.Thr110=)
|
rs201366184
|
0.00003
|
NM_000891.3(KCNJ2):c.1259C>T (p.Pro420Leu)
|
rs749707062
|
0.00003
|
NM_001002755.4(NFU1):c.702G>A (p.Glu234=)
|
rs561482249
|
0.00003
|
NM_001005361.3(DNM2):c.1423-9C>G
|
rs371006369
|
0.00003
|
NM_001005361.3(DNM2):c.162-9C>A
|
rs200736669
|
0.00003
|
NM_001008216.2(GALE):c.988+7G>A
|
rs200182186
|
0.00003
|
NM_001032386.2(SUOX):c.1137A>G (p.Lys379=)
|
rs759992645
|
0.00003
|
NM_001035.3(RYR2):c.11877G>A (p.Ser3959=)
|
rs754610647
|
0.00003
|
NM_001035.3(RYR2):c.12027C>T (p.Asn4009=)
|
rs763374929
|
0.00003
|
NM_001035.3(RYR2):c.1241G>A (p.Arg414His)
|
rs371121679
|
0.00003
|
NM_001035.3(RYR2):c.13175A>G (p.Lys4392Arg)
|
rs753733164
|
0.00003
|
NM_001035.3(RYR2):c.13593G>A (p.Lys4531=)
|
rs548313130
|
0.00003
|
NM_001035.3(RYR2):c.1789A>G (p.Ile597Val)
|
rs770408945
|
0.00003
|
NM_001035.3(RYR2):c.837G>A (p.Thr279=)
|
rs769682840
|
0.00003
|
NM_001035.3(RYR2):c.8515-7A>G
|
rs766622060
|
0.00003
|
NM_001035.3(RYR2):c.8913T>C (p.Ile2971=)
|
rs755520825
|
0.00003
|
NM_001035.3(RYR2):c.9755A>G (p.His3252Arg)
|
rs760379293
|
0.00003
|
NM_001040108.2(MLH3):c.3405C>T (p.Ser1135=)
|
rs746155226
|
0.00003
|
NM_001040716.2(PC):c.1530C>T (p.Asn510=)
|
rs755162836
|
0.00003
|
NM_001040716.2(PC):c.3435G>T (p.Met1145Ile)
|
rs201796252
|
0.00003
|
NM_001040716.2(PC):c.3483T>C (p.His1161=)
|
rs190223302
|
0.00003
|
NM_001042492.3(NF1):c.1308G>A (p.Ser436=)
|
rs765425127
|
0.00003
|
NM_001042492.3(NF1):c.864G>C (p.Val288=)
|
rs201181517
|
0.00003
|
NM_001065.4(TNFRSF1A):c.492C>T (p.Thr164=)
|
rs373422284
|
0.00003
|
NM_001080.3(ALDH5A1):c.1374C>T (p.Ile458=)
|
rs775722631
|
0.00003
|
NM_001080.3(ALDH5A1):c.651C>T (p.Ala217=)
|
rs4646837
|
0.00003
|
NM_001080.3(ALDH5A1):c.663C>T (p.Ala221=)
|
rs760461822
|
0.00003
|
NM_001082971.2(DDC):c.6C>T (p.Asn2=)
|
rs749246611
|
0.00003
|
NM_001083962.2(TCF4):c.1113G>A (p.Ser371=)
|
rs148308964
|
0.00003
|
NM_001083962.2(TCF4):c.903C>T (p.Asn301=)
|
rs781392344
|
0.00003
|
NM_001100.4(ACTA1):c.435C>T (p.Tyr145=)
|
rs371410845
|
0.00003
|
NM_001101362.3(KBTBD13):c.228C>G (p.Asp76Glu)
|
rs777431652
|
0.00003
|
NM_001101426.4(CRPPA):c.1120-10T>C
|
rs200836986
|
0.00003
|
NM_001114753.3(ENG):c.405C>G (p.Thr135=)
|
rs773521685
|
0.00003
|
NM_001114753.3(ENG):c.900G>A (p.Leu300=)
|
rs140155568
|
0.00003
|
NM_001122659.3(EDNRB):c.777C>T (p.Pro259=)
|
rs375637651
|
0.00003
|
NM_001126108.2(SLC12A3):c.2253G>A (p.Pro751=)
|
rs776382586
|
0.00003
|
NM_001130823.3(DNMT1):c.3117-4G>A
|
rs781402268
|
0.00003
|
NM_001130987.2(DYSF):c.2205C>T (p.Ile735=)
|
rs754177085
|
0.00003
|
NM_001130987.2(DYSF):c.3442G>A (p.Val1148Ile)
|
rs148925399
|
0.00003
|
NM_001130987.2(DYSF):c.558A>G (p.Thr186=)
|
rs781732915
|
0.00003
|
NM_001130987.2(DYSF):c.5643-12A>G
|
rs375507062
|
0.00003
|
NM_001130987.2(DYSF):c.760-8G>C
|
rs748159785
|
0.00003
|
NM_001134363.3(RBM20):c.1429+10G>T
|
rs778742738
|
0.00003
|
NM_001134363.3(RBM20):c.541G>A (p.Gly181Arg)
|
rs543478618
|
0.00003
|
NM_001160372.4(TRAPPC9):c.3288G>A (p.Pro1096=)
|
rs570688248
|
0.00003
|
NM_001161352.2(KCNMA1):c.2675C>T (p.Thr892Met)
|
rs200440843
|
0.00003
|
NM_001161352.2(KCNMA1):c.3650A>G (p.Asn1217Ser)
|
rs563967757
|
0.00003
|
NM_001164508.2(NEB):c.11361G>A (p.Pro3787=)
|
rs200043736
|
0.00003
|
NM_001164508.2(NEB):c.11915T>G (p.Leu3972Arg)
|
rs769145449
|
0.00003
|
NM_001164508.2(NEB):c.1365+14C>A
|
rs750849844
|
0.00003
|
NM_001164508.2(NEB):c.18737A>G (p.His6246Arg)
|
rs760552939
|
0.00003
|
NM_001164508.2(NEB):c.18786C>T (p.Tyr6262=)
|
rs374874999
|
0.00003
|
NM_001164508.2(NEB):c.20367+15G>C
|
rs886054931
|
0.00003
|
NM_001164508.2(NEB):c.20578-8A>G
|
rs368526624
|
0.00003
|
NM_001164508.2(NEB):c.21779A>G (p.Lys7260Arg)
|
rs200250294
|
0.00003
|
NM_001164508.2(NEB):c.22110A>G (p.Pro7370=)
|
rs539800267
|
0.00003
|
NM_001164508.2(NEB):c.23149G>C (p.Glu7717Gln)
|
rs766321668
|
0.00003
|
NM_001164508.2(NEB):c.24640A>G (p.Arg8214Gly)
|
rs772803200
|
0.00003
|
NM_001164508.2(NEB):c.475C>T (p.His159Tyr)
|
rs776746330
|
0.00003
|
NM_001164508.2(NEB):c.5854A>G (p.Met1952Val)
|
rs200649387
|
0.00003
|
NM_001164508.2(NEB):c.6135T>C (p.Asp2045=)
|
rs886042654
|
0.00003
|
NM_001164508.2(NEB):c.6449C>T (p.Ala2150Val)
|
rs375256600
|
0.00003
|
NM_001164508.2(NEB):c.7623C>T (p.Ala2541=)
|
rs371570995
|
0.00003
|
NM_001164508.2(NEB):c.9743A>G (p.Asn3248Ser)
|
rs139548702
|
0.00003
|
NM_001164688.2(RD3):c.150G>A (p.Ala50=)
|
rs751609154
|
0.00003
|
NM_001166114.2(PNPLA6):c.1962C>T (p.Ser654=)
|
rs757870828
|
0.00003
|
NM_001166114.2(PNPLA6):c.2185-15C>T
|
rs780822241
|
0.00003
|
NM_001166114.2(PNPLA6):c.3397+11G>T
|
rs370597983
|
0.00003
|
NM_001166114.2(PNPLA6):c.3990C>T (p.Pro1330=)
|
rs535388759
|
0.00003
|
NM_001174089.2(SLC4A11):c.1668G>A (p.Ala556=)
|
rs368073003
|
0.00003
|
NM_001182.5(ALDH7A1):c.394-15G>A
|
rs766287925
|
0.00003
|
NM_001199397.3(NEK1):c.1500T>C (p.Ala500=)
|
rs776664093
|
0.00003
|
NM_001199397.3(NEK1):c.2136C>T (p.Gly712=)
|
rs760404694
|
0.00003
|
NM_001256545.2(MEGF10):c.781-15T>C
|
rs767842462
|
0.00003
|
NM_001352514.2(HLCS):c.1821G>A (p.Leu607=)
|
rs147495853
|
0.00003
|
NM_001355436.2(SPTB):c.5810C>G (p.Ser1937Cys)
|
rs764560431
|
0.00003
|
NM_001358530.2(MOCS1):c.1362C>T (p.Asp454=)
|
rs771259156
|
0.00003
|
NM_001360.3(DHCR7):c.1389C>T (p.Thr463=)
|
rs200477386
|
0.00003
|
NM_001365536.1(SCN9A):c.829C>A (p.Arg277=)
|
rs121908916
|
0.00003
|
NM_001369369.1(FOXN1):c.1203C>A (p.Pro401=)
|
rs375002692
|
0.00003
|
NM_001369369.1(FOXN1):c.1815C>T (p.Ser605=)
|
rs369425799
|
0.00003
|
NM_001376.5(DYNC1H1):c.1296A>G (p.Val432=)
|
rs767564445
|
0.00003
|
NM_001376.5(DYNC1H1):c.161C>T (p.Ala54Val)
|
rs772070566
|
0.00003
|
NM_001376.5(DYNC1H1):c.1861G>A (p.Asp621Asn)
|
rs755333803
|
0.00003
|
NM_001376.5(DYNC1H1):c.2672A>G (p.His891Arg)
|
rs774004189
|
0.00003
|
NM_001378964.1(CDON):c.2763C>T (p.Cys921=)
|
rs146413034
|
0.00003
|
NM_001395413.1(POR):c.1176C>T (p.Tyr392=)
|
rs782192787
|
0.00003
|
NM_001395413.1(POR):c.315C>T (p.Tyr105=)
|
rs782376709
|
0.00003
|
NM_001457.4(FLNB):c.3289G>A (p.Val1097Ile)
|
rs144874876
|
0.00003
|
NM_001457.4(FLNB):c.3652G>A (p.Ala1218Thr)
|
rs370716086
|
0.00003
|
NM_001457.4(FLNB):c.3792C>A (p.Asp1264Glu)
|
rs200622119
|
0.00003
|
NM_001457.4(FLNB):c.4062-8C>T
|
rs369254062
|
0.00003
|
NM_001457.4(FLNB):c.4170C>T (p.Phe1390=)
|
rs374070003
|
0.00003
|
NM_001457.4(FLNB):c.4185C>T (p.Tyr1395=)
|
rs373754367
|
0.00003
|
NM_001482.3(GATM):c.1159+14A>G
|
rs368974196
|
0.00003
|
NM_001609.4(ACADSB):c.675T>C (p.Pro225=)
|
rs770933347
|
0.00003
|
NM_001613.4(ACTA2):c.390T>C (p.Asn130=)
|
rs141933412
|
0.00003
|
NM_001754.5(RUNX1):c.585C>T (p.Ile195=)
|
rs2057541413
|
0.00003
|
NM_001844.5(COL2A1):c.1498G>A (p.Val500Ile)
|
rs768110640
|
0.00003
|
NM_001844.5(COL2A1):c.708+14C>T
|
rs769173275
|
0.00003
|
NM_001943.5(DSG2):c.2162A>G (p.His721Arg)
|
rs756912703
|
0.00003
|
NM_001943.5(DSG2):c.2234C>T (p.Thr745Met)
|
rs727504783
|
0.00003
|
NM_001943.5(DSG2):c.706A>G (p.Thr236Ala)
|
rs727502985
|
0.00003
|
NM_001999.4(FBN2):c.2214A>T (p.Gly738=)
|
rs201548788
|
0.00003
|
NM_001999.4(FBN2):c.3980A>G (p.Asn1327Ser)
|
rs762567430
|
0.00003
|
NM_001999.4(FBN2):c.4914C>T (p.Gly1638=)
|
rs1482008222
|
0.00003
|
NM_001999.4(FBN2):c.7338T>C (p.Asp2446=)
|
rs751824761
|
0.00003
|
NM_002103.5(GYS1):c.222G>A (p.Arg74=)
|
rs748174034
|
0.00003
|
NM_002103.5(GYS1):c.741G>A (p.Ala247=)
|
rs3745692
|
0.00003
|
NM_002225.5(IVD):c.1139-8G>C
|
rs755640305
|
0.00003
|
NM_002292.4(LAMB2):c.76+10C>T
|
rs370554848
|
0.00003
|
NM_002474.3(MYH11):c.1402-14C>T
|
rs375973110
|
0.00003
|
NM_002474.3(MYH11):c.5421C>T (p.Ala1807=)
|
rs145857508
|
0.00003
|
NM_002474.3(MYH11):c.546C>T (p.Ala182=)
|
rs113577450
|
0.00003
|
NM_002485.5(NBN):c.702+9G>A
|
rs748373099
|
0.00003
|
NM_002529.4(NTRK1):c.2355C>T (p.Ala785=)
|
rs772156529
|
0.00003
|
NM_002617.4(PEX10):c.280G>A (p.Val94Met)
|
rs142626035
|
0.00003
|
NM_002617.4(PEX10):c.601-75G>A
|
rs369211467
|
0.00003
|
NM_002633.3(PGM1):c.1144+10A>G
|
rs886046482
|
0.00003
|
NM_002778.4(PSAP):c.798G>A (p.Ala266=)
|
rs199672678
|
0.00003
|
NM_002900.3(RBP3):c.717C>T (p.Ala239=)
|
rs146269396
|
0.00003
|
NM_003060.4(SLC22A5):c.1587-11T>G
|
rs772775759
|
0.00003
|
NM_003119.4(SPG7):c.663G>A (p.Lys221=)
|
rs575421836
|
0.00003
|
NM_003240.5(LEFTY2):c.810T>C (p.Ile270=)
|
rs751370455
|
0.00003
|
NM_003242.6(TGFBR2):c.1470C>T (p.Asn490=)
|
rs141113059
|
0.00003
|
NM_003242.6(TGFBR2):c.690G>A (p.Thr230=)
|
rs201560560
|
0.00003
|
NM_003283.6(TNNT1):c.47-6C>G
|
rs375682055
|
0.00003
|
NM_003331.5(TYK2):c.2646G>C (p.Pro882=)
|
rs184567726
|
0.00003
|
NM_003334.4(UBA1):c.1683T>C (p.Asp561=)
|
rs781873529
|
0.00003
|
NM_003384.3(VRK1):c.1069-9A>G
|
rs767585930
|
0.00003
|
NM_003560.4(PLA2G6):c.1983G>A (p.Thr661=)
|
rs150572286
|
0.00003
|
NM_003560.4(PLA2G6):c.895-5C>T
|
rs372128546
|
0.00003
|
NM_003664.5(AP3B1):c.519A>G (p.Ala173=)
|
rs747459337
|
0.00003
|
NM_003690.5(PRKRA):c.654G>A (p.Leu218=)
|
rs763093482
|
0.00003
|
NM_003721.4(RFXANK):c.501C>A (p.Gly167=)
|
rs145457604
|
0.00003
|
NM_003896.4(ST3GAL5):c.849+15T>G
|
rs768216151
|
0.00003
|
NM_003907.3(EIF2B5):c.1914C>T (p.Arg638=)
|
rs751446315
|
0.00003
|
NM_003919.3(SGCE):c.471G>A (p.Pro157=)
|
rs747531940
|
0.00003
|
NM_003982.4(SLC7A7):c.1494T>C (p.Asp498=)
|
rs765682604
|
0.00003
|
NM_004035.7(ACOX1):c.825C>T (p.Tyr275=)
|
rs542159010
|
0.00003
|
NM_004239.4(TRIP11):c.4128G>T (p.Ser1376=)
|
rs373454645
|
0.00003
|
NM_004239.4(TRIP11):c.4206A>G (p.Gln1402=)
|
rs746081059
|
0.00003
|
NM_004239.4(TRIP11):c.4443G>A (p.Ala1481=)
|
rs372272441
|
0.00003
|
NM_004304.5(ALK):c.4425C>T (p.His1475=)
|
rs139039449
|
0.00003
|
NM_004304.5(ALK):c.615C>G (p.Ser205=)
|
rs567498111
|
0.00003
|
NM_004320.6(ATP2A1):c.1962G>A (p.Thr654=)
|
rs773807881
|
0.00003
|
NM_004415.4(DSP):c.1743C>T (p.Ala581=)
|
rs139095230
|
0.00003
|
NM_004415.4(DSP):c.1840G>A (p.Asp614Asn)
|
rs764951792
|
0.00003
|
NM_004415.4(DSP):c.4373G>A (p.Arg1458Gln)
|
rs370063434
|
0.00003
|
NM_004415.4(DSP):c.6935T>C (p.Val2312Ala)
|
rs886061748
|
0.00003
|
NM_004453.4(ETFDH):c.142A>G (p.Ile48Val)
|
rs201823591
|
0.00003
|
NM_004519.4(KCNQ3):c.2079G>A (p.Pro693=)
|
rs145204452
|
0.00003
|
NM_004525.3(LRP2):c.13002C>T (p.Cys4334=)
|
rs774133574
|
0.00003
|
NM_004655.4(AXIN2):c.2196G>A (p.Thr732=)
|
rs878854725
|
0.00003
|
NM_004656.4(BAP1):c.2175G>A (p.Lys725=)
|
rs760537008
|
0.00003
|
NM_004820.5(CYP7B1):c.1323G>A (p.Pro441=)
|
rs201281307
|
0.00003
|
NM_005198.5(CHKB):c.927+10C>G
|
rs549171476
|
0.00003
|
NM_005267.5(GJA8):c.183C>T (p.Cys61=)
|
rs782213276
|
0.00003
|
NM_005546.4(ITK):c.1563G>A (p.Pro521=)
|
rs767821181
|
0.00003
|
NM_005609.4(PYGM):c.2412G>A (p.Arg804=)
|
rs199927544
|
0.00003
|
NM_005726.6(TSFM):c.816C>T (p.Asp272=)
|
rs183575246
|
0.00003
|
NM_006005.3(WFS1):c.1263C>T (p.Ile421=)
|
rs748103155
|
0.00003
|
NM_006371.5(CRTAP):c.376C>T (p.Leu126=)
|
rs756961672
|
0.00003
|
NM_006790.3(MYOT):c.817-11T>C
|
rs377759571
|
0.00003
|
NM_006892.4(DNMT3B):c.102G>A (p.Ser34=)
|
rs564154904
|
0.00003
|
NM_006892.4(DNMT3B):c.684C>T (p.Leu228=)
|
rs373811098
|
0.00003
|
NM_006949.4(STXBP2):c.1362G>A (p.Ser454=)
|
rs980486322
|
0.00003
|
NM_006949.4(STXBP2):c.1620C>T (p.Gly540=)
|
rs374131788
|
0.00003
|
NM_006949.4(STXBP2):c.321C>T (p.Thr107=)
|
rs886054703
|
0.00003
|
NM_006996.3(SLC19A2):c.-12C>G
|
rs772886076
|
0.00003
|
NM_007055.4(POLR3A):c.3697C>A (p.Arg1233=)
|
rs576629157
|
0.00003
|
NM_007272.3(CTRC):c.174G>A (p.Thr58=)
|
rs746721892
|
0.00003
|
NM_007294.4(BRCA1):c.5333-8C>T
|
rs80358084
|
0.00003
|
NM_007294.4(BRCA1):c.671-10A>G
|
rs398122707
|
0.00003
|
NM_012092.4(ICOS):c.42C>A (p.Arg14=)
|
rs765158675
|
0.00003
|
NM_012092.4(ICOS):c.510A>G (p.Ser170=)
|
rs148435889
|
0.00003
|
NM_012213.3(MLYCD):c.1344C>T (p.Cys448=)
|
rs534173407
|
0.00003
|
NM_012213.3(MLYCD):c.505C>T (p.Leu169=)
|
rs771885443
|
0.00003
|
NM_012213.3(MLYCD):c.762C>T (p.His254=)
|
rs773274796
|
0.00003
|
NM_012472.6(DNAAF11):c.408A>G (p.Val136=)
|
rs762081490
|
0.00003
|
NM_014140.4(SMARCAL1):c.1407C>T (p.Ile469=)
|
rs750621192
|
0.00003
|
NM_014140.4(SMARCAL1):c.1414G>A (p.Ala472Thr)
|
rs571392819
|
0.00003
|
NM_014141.6(CNTNAP2):c.2241G>A (p.Ala747=)
|
rs758102050
|
0.00003
|
NM_014141.6(CNTNAP2):c.2460C>T (p.Ser820=)
|
rs144496909
|
0.00003
|
NM_014141.6(CNTNAP2):c.3797-5G>A
|
rs745770134
|
0.00003
|
NM_014249.4(NR2E3):c.245+9G>A
|
rs538864090
|
0.00003
|
NM_014336.5(AIPL1):c.785-11G>A
|
rs199772097
|
0.00003
|
NM_014339.7(IL17RA):c.1728C>T (p.Asp576=)
|
rs767714232
|
0.00003
|
NM_014339.7(IL17RA):c.1986G>A (p.Pro662=)
|
rs990617336
|
0.00003
|
NM_014363.6(SACS):c.5169A>G (p.Ala1723=)
|
rs200699984
|
0.00003
|
NM_014363.6(SACS):c.7101G>A (p.Ala2367=)
|
rs764702321
|
0.00003
|
NM_014363.6(SACS):c.7497C>T (p.Val2499=)
|
rs774558627
|
0.00003
|
NM_014384.3(ACAD8):c.1233C>T (p.Ser411=)
|
rs146145710
|
0.00003
|
NM_014714.4(IFT140):c.1306G>T (p.Val436Phe)
|
rs764912104
|
0.00003
|
NM_014714.4(IFT140):c.2650C>T (p.Arg884Trp)
|
rs554196965
|
0.00003
|
NM_014714.4(IFT140):c.2692G>A (p.Val898Met)
|
rs369457143
|
0.00003
|
NM_014714.4(IFT140):c.2781G>A (p.Ser927=)
|
rs773225207
|
0.00003
|
NM_014714.4(IFT140):c.657G>A (p.Glu219=)
|
rs757028149
|
0.00003
|
NM_014855.3(AP5Z1):c.1455-12C>T
|
rs1038026978
|
0.00003
|
NM_014874.4(MFN2):c.2145C>T (p.Ala715=)
|
rs571011689
|
0.00003
|
NM_015272.5(RPGRIP1L):c.3331G>A (p.Ala1111Thr)
|
rs973841786
|
0.00003
|
NM_015474.4(SAMHD1):c.990T>C (p.Asp330=)
|
rs756532676
|
0.00003
|
NM_016219.5(MAN1B1):c.792C>T (p.Tyr264=)
|
rs777042053
|
0.00003
|
NM_017534.6(MYH2):c.2655G>A (p.Thr885=)
|
rs141764966
|
0.00003
|
NM_017739.4(POMGNT1):c.698C>T (p.Ser233Phe)
|
rs569061665
|
0.00003
|
NM_017882.3(CLN6):c.831C>T (p.Val277=)
|
rs753344266
|
0.00003
|
NM_018368.4(LMBRD1):c.417G>A (p.Thr139=)
|
rs934259733
|
0.00003
|
NM_018718.3(CEP41):c.757+11T>C
|
rs1050676312
|
0.00003
|
NM_020376.4(PNPLA2):c.487-7G>C
|
rs372342635
|
0.00003
|
NM_020451.3(SELENON):c.1704G>A (p.Pro568=)
|
rs754350384
|
0.00003
|
NM_020529.3(NFKBIA):c.547+10C>T
|
rs201614038
|
0.00003
|
NM_020686.6(ABAT):c.1123-15C>T
|
rs376574278
|
0.00003
|
NM_020686.6(ABAT):c.168+13C>T
|
rs759610129
|
0.00003
|
NM_020686.6(ABAT):c.708C>T (p.Ile236=)
|
rs778110660
|
0.00003
|
NM_020975.6(RET):c.1760-12G>A
|
rs377767392
|
0.00003
|
NM_021625.5(TRPV4):c.1038C>T (p.Tyr346=)
|
rs750086412
|
0.00003
|
NM_021728.4(OTX2):c.270G>T (p.Val90=)
|
rs747916036
|
0.00003
|
NM_021957.4(GYS2):c.627T>A (p.Leu209=)
|
rs767838400
|
0.00003
|
NM_022041.4(GAN):c.283-15A>G
|
rs754182168
|
0.00003
|
NM_022098.4(XPNPEP3):c.1188T>C (p.Leu396=)
|
rs146309087
|
0.00003
|
NM_022132.5(MCCC2):c.864G>A (p.Arg288=)
|
rs368236133
|
0.00003
|
NM_022464.5(SIL1):c.930C>T (p.Leu310=)
|
rs147797471
|
0.00003
|
NM_024105.4(ALG12):c.183C>T (p.Pro61=)
|
rs749156618
|
0.00003
|
NM_024422.6(DSC2):c.2250+12G>T
|
rs201039801
|
0.00003
|
NM_024422.6(DSC2):c.802A>G (p.Thr268Ala)
|
rs201015785
|
0.00003
|
NM_024649.5(BBS1):c.1338C>T (p.Thr446=)
|
rs368302072
|
0.00003
|
NM_024685.4(BBS10):c.462G>A (p.Leu154=)
|
rs764687344
|
0.00003
|
NM_025099.6(CTC1):c.3504C>T (p.Ile1168=)
|
rs760547081
|
0.00003
|
NM_025137.4(SPG11):c.4137A>G (p.Gln1379=)
|
rs748617459
|
0.00003
|
NM_030777.4(SLC2A10):c.1596C>T (p.Tyr532=)
|
rs886056727
|
0.00003
|
NM_031433.4(MFRP):c.1461C>A (p.Ile487=)
|
rs202139926
|
0.00003
|
NM_031433.4(MFRP):c.1506C>T (p.Ser502=)
|
rs773497972
|
0.00003
|
NM_032409.3(PINK1):c.960-11C>T
|
rs371943401
|
0.00003
|
NM_032520.5(GNPTG):c.234-8G>T
|
rs369333639
|
0.00003
|
NM_032520.5(GNPTG):c.42C>T (p.Leu14=)
|
rs776361173
|
0.00003
|
NM_032634.4(PIGO):c.2854+7C>A
|
rs768338180
|
0.00003
|
NM_032634.4(PIGO):c.3118G>A (p.Val1040Ile)
|
rs149439295
|
0.00003
|
NM_033305.3(VPS13A):c.5725T>C (p.Leu1909=)
|
rs139817600
|
0.00003
|
NM_052845.4(MMAB):c.732G>A (p.Ser244=)
|
rs186864802
|
0.00003
|
NM_052859.4(RFT1):c.23G>A (p.Gly8Asp)
|
rs151322409
|
0.00003
|
NM_052872.4(IL17F):c.427T>C (p.Leu143=)
|
rs1015495067
|
0.00003
|
NM_053013.4(ENO3):c.1047G>A (p.Ser349=)
|
rs527864393
|
0.00003
|
NM_053025.4(MYLK):c.2781C>T (p.Ala927=)
|
rs12172928
|
0.00003
|
NM_053025.4(MYLK):c.4104C>T (p.Ile1368=)
|
rs376676607
|
0.00003
|
NM_053025.4(MYLK):c.4743C>T (p.Ile1581=)
|
rs371814184
|
0.00003
|
NM_054012.4(ASS1):c.786C>T (p.Gly262=)
|
rs536799104
|
0.00003
|
NM_080911.3(UNG):c.36C>A (p.Ser12=)
|
rs772832695
|
0.00003
|
NM_133642.5(LARGE1):c.2208G>A (p.Gln736=)
|
rs759427879
|
0.00003
|
NM_138387.4(G6PC3):c.219-13T>C
|
rs773122600
|
0.00003
|
NM_138694.4(PKHD1):c.11507-8C>T
|
rs755710579
|
0.00003
|
NM_138694.4(PKHD1):c.1913T>C (p.Met638Thr)
|
rs181546197
|
0.00003
|
NM_138694.4(PKHD1):c.3835G>A (p.Ala1279Thr)
|
rs201611688
|
0.00003
|
NM_138694.4(PKHD1):c.708-4G>A
|
rs748018742
|
0.00003
|
NM_138711.6(PPARG):c.145G>A (p.Glu49Lys)
|
rs777334819
|
0.00003
|
NM_139343.3(BIN1):c.1473T>C (p.Pro491=)
|
rs779756862
|
0.00003
|
NM_139343.3(BIN1):c.675G>A (p.Glu225=)
|
rs148179522
|
0.00003
|
NM_144687.4(NLRP12):c.3003C>T (p.Thr1001=)
|
rs556001110
|
0.00003
|
NM_144687.4(NLRP12):c.858C>T (p.Pro286=)
|
rs145171629
|
0.00003
|
NM_145649.5(GCNT2):c.1018+15C>G
|
rs78667015
|
0.00003
|
NM_145861.4(EDARADD):c.600C>T (p.Asp200=)
|
rs74942492
|
0.00003
|
NM_152296.5(ATP1A3):c.3013+12C>T
|
rs782424595
|
0.00003
|
NM_152383.5(DIS3L2):c.453G>A (p.Pro151=)
|
rs567611268
|
0.00003
|
NM_152564.5(VPS13B):c.2885C>T (p.Thr962Met)
|
rs547184348
|
0.00003
|
NM_152564.5(VPS13B):c.8751G>A (p.Ser2917=)
|
rs775883776
|
0.00003
|
NM_152783.5(D2HGDH):c.1083G>A (p.Ala361=)
|
rs183342534
|
0.00003
|
NM_152783.5(D2HGDH):c.1141-12C>T
|
rs753825335
|
0.00003
|
NM_152783.5(D2HGDH):c.324G>A (p.Thr108=)
|
rs371102955
|
0.00003
|
NM_153603.4(COG7):c.1167G>A (p.Gln389=)
|
rs201313774
|
0.00003
|
NM_153603.4(COG7):c.1410-6G>C
|
rs369925503
|
0.00003
|
NM_153603.4(COG7):c.1629T>C (p.Tyr543=)
|
rs760342154
|
0.00003
|
NM_153603.4(COG7):c.1804-13G>A
|
rs759680428
|
0.00003
|
NM_170707.4(LMNA):c.1227A>G (p.Thr409=)
|
rs762130433
|
0.00003
|
NM_170707.4(LMNA):c.937-8C>A
|
rs751707982
|
0.00003
|
NM_173842.3(IL1RN):c.414T>C (p.Ser138=)
|
rs146491054
|
0.00003
|
NM_174936.4(PCSK9):c.1954A>G (p.Asn652Asp)
|
rs201280059
|
0.00003
|
NM_177438.3(DICER1):c.2133T>C (p.His711=)
|
rs878855248
|
0.00003
|
NM_178170.3(NEK8):c.48-10G>A
|
rs769058088
|
0.00003
|
NM_182894.3(VSX2):c.777G>A (p.Ser259=)
|
rs371707151
|
0.00003
|
NM_182914.3(SYNE2):c.18963G>T (p.Leu6321=)
|
rs757232346
|
0.00003
|
NM_182914.3(SYNE2):c.6880-4G>A
|
rs776756586
|
0.00003
|
NM_183235.3(RAB27A):c.344-10A>G
|
rs199702031
|
0.00003
|
NM_198578.4(LRRK2):c.1446A>G (p.Ala482=)
|
rs757454147
|
0.00003
|
NM_206937.2(LIG4):c.2274T>C (p.Tyr758=)
|
rs529756815
|
0.00003
|
NM_000016.6(ACADM):c.276A>G (p.Pro92=)
|
rs1212443202
|
0.00002
|
NM_000016.6(ACADM):c.927C>T (p.Phe309=)
|
rs771550655
|
0.00002
|
NM_000018.4(ACADVL):c.963C>T (p.Asn321=)
|
rs568118142
|
0.00002
|
NM_000020.3(ACVRL1):c.270C>T (p.Cys90=)
|
rs556168617
|
0.00002
|
NM_000020.3(ACVRL1):c.429C>T (p.Val143=)
|
rs762047618
|
0.00002
|
NM_000022.4(ADA):c.282C>T (p.Gly94=)
|
rs771207375
|
0.00002
|
NM_000030.3(AGXT):c.942+14T>G
|
rs886055843
|
0.00002
|
NM_000035.4(ALDOB):c.954T>C (p.Ala318=)
|
rs572044496
|
0.00002
|
NM_000037.4(ANK1):c.1563C>T (p.Ala521=)
|
rs762615459
|
0.00002
|
NM_000037.4(ANK1):c.1824C>T (p.Ile608=)
|
rs144904116
|
0.00002
|
NM_000037.4(ANK1):c.5520C>T (p.Ala1840=)
|
rs116148295
|
0.00002
|
NM_000038.6(APC):c.5363G>A (p.Arg1788His)
|
rs201472075
|
0.00002
|
NM_000038.6(APC):c.5424C>T (p.Asn1808=)
|
rs747721259
|
0.00002
|
NM_000048.4(ASL):c.243G>C (p.Leu81=)
|
rs774204716
|
0.00002
|
NM_000051.4(ATM):c.5002C>T (p.Leu1668=)
|
rs747317946
|
0.00002
|
NM_000051.4(ATM):c.660G>A (p.Ala220=)
|
rs763669136
|
0.00002
|
NM_000053.4(ATP7B):c.1122C>G (p.Val374=)
|
rs201254466
|
0.00002
|
NM_000053.4(ATP7B):c.1230A>G (p.Pro410=)
|
rs772843652
|
0.00002
|
NM_000053.4(ATP7B):c.3582C>T (p.Ile1194=)
|
rs761183334
|
0.00002
|
NM_000090.4(COL3A1):c.4020C>T (p.Tyr1340=)
|
rs766750333
|
0.00002
|
NM_000092.5(COL4A4):c.1893A>G (p.Gly631=)
|
rs370886041
|
0.00002
|
NM_000096.4(CP):c.229G>C (p.Asp77His)
|
rs200683433
|
0.00002
|
NM_000096.4(CP):c.2310G>A (p.Lys770=)
|
rs553883583
|
0.00002
|
NM_000108.5(DLD):c.1503G>A (p.Ala501=)
|
rs766286119
|
0.00002
|
NM_000116.5(TAFAZZIN):c.351G>A (p.Lys117=)
|
rs782564325
|
0.00002
|
NM_000123.4(ERCC5):c.3428C>T (p.Ala1143Val)
|
rs376411022
|
0.00002
|
NM_000127.3(EXT1):c.210A>G (p.Gln70=)
|
rs367543871
|
0.00002
|
NM_000130.5(F5):c.3402C>A (p.Asp1134Glu)
|
rs373880789
|
0.00002
|
NM_000135.4(FANCA):c.1226-12G>C
|
rs36011345
|
0.00002
|
NM_000135.4(FANCA):c.1567-11C>A
|
rs34353618
|
0.00002
|
NM_000135.4(FANCA):c.2395C>T (p.Pro799Ser)
|
rs762439008
|
0.00002
|
NM_000135.4(FANCA):c.3429G>A (p.Leu1143=)
|
rs146062039
|
0.00002
|
NM_000135.4(FANCA):c.386C>T (p.Ala129Val)
|
rs577625130
|
0.00002
|
NM_000135.4(FANCA):c.837C>T (p.Asp279=)
|
rs752311383
|
0.00002
|
NM_000135.4(FANCA):c.87G>A (p.Arg29=)
|
rs760787108
|
0.00002
|
NM_000137.4(FAH):c.391C>T (p.Arg131Trp)
|
rs147946196
|
0.00002
|
NM_000147.5(FUCA1):c.1260+7A>C
|
rs771229488
|
0.00002
|
NM_000152.5(GAA):c.687C>T (p.Arg229=)
|
rs149814041
|
0.00002
|
NM_000152.5(GAA):c.705G>A (p.Thr235=)
|
rs2304846
|
0.00002
|
NM_000153.4(GALC):c.318G>A (p.Gly106=)
|
rs886050867
|
0.00002
|
NM_000156.6(GAMT):c.225G>A (p.Ala75=)
|
rs202151546
|
0.00002
|
NM_000158.4(GBE1):c.556-6C>T
|
rs754051144
|
0.00002
|
NM_000159.4(GCDH):c.1083-10C>T
|
rs756372984
|
0.00002
|
NM_000169.3(GLA):c.196G>C (p.Glu66Gln)
|
rs104894833
|
0.00002
|
NM_000179.3(MSH6):c.2664G>C (p.Lys888Asn)
|
rs730881798
|
0.00002
|
NM_000182.5(HADHA):c.1794T>C (p.His598=)
|
rs149021400
|
0.00002
|
NM_000186.4(CFH):c.3156C>T (p.Pro1052=)
|
rs764539113
|
0.00002
|
NM_000191.3(HMGCL):c.828G>A (p.Leu276=)
|
rs771024022
|
0.00002
|
NM_000203.5(IDUA):c.1093C>G (p.Leu365Val)
|
rs527336882
|
0.00002
|
NM_000211.5(ITGB2):c.1125C>T (p.Pro375=)
|
rs754762370
|
0.00002
|
NM_000211.5(ITGB2):c.59-9G>A
|
rs141780263
|
0.00002
|
NM_000214.3(JAG1):c.2199C>T (p.Gly733=)
|
rs756062969
|
0.00002
|
NM_000214.3(JAG1):c.2739C>T (p.Ser913=)
|
rs766479402
|
0.00002
|
NM_000215.4(JAK3):c.1653A>G (p.Thr551=)
|
rs201698409
|
0.00002
|
NM_000215.4(JAK3):c.2692C>T (p.Leu898=)
|
rs202043320
|
0.00002
|
NM_000243.3(MEFV):c.344C>G (p.Pro115Arg)
|
rs201766654
|
0.00002
|
NM_000246.4(CIITA):c.3318-8C>G
|
rs201115726
|
0.00002
|
NM_000249.4(MLH1):c.928A>G (p.Thr310Ala)
|
rs779581111
|
0.00002
|
NM_000256.3(MYBPC3):c.1812C>T (p.Asp604=)
|
rs397515929
|
0.00002
|
NM_000257.4(MYH7):c.4908C>T (p.Ala1636=)
|
rs150241539
|
0.00002
|
NM_000258.3(MYL3):c.532G>A (p.Asp178Asn)
|
rs145520567
|
0.00002
|
NM_000260.4(MYO7A):c.4851C>T (p.Pro1617=)
|
rs372535399
|
0.00002
|
NM_000264.5(PTCH1):c.1120G>A (p.Glu374Lys)
|
rs144323077
|
0.00002
|
NM_000264.5(PTCH1):c.3066C>T (p.Ile1022=)
|
rs755755175
|
0.00002
|
NM_000268.4(NF2):c.600-13G>A
|
rs374509697
|
0.00002
|
NM_000271.5(NPC1):c.2337C>T (p.Phe779=)
|
rs367654655
|
0.00002
|
NM_000274.4(OAT):c.1245G>A (p.Ala415=)
|
rs751449034
|
0.00002
|
NM_000274.4(OAT):c.477C>T (p.Thr159=)
|
rs575839041
|
0.00002
|
NM_000282.4(PCCA):c.638-5G>A
|
rs764316702
|
0.00002
|
NM_000290.4(PGAM2):c.252T>C (p.Thr84=)
|
rs755125202
|
0.00002
|
NM_000302.4(PLOD1):c.1902+9G>T
|
rs200395169
|
0.00002
|
NM_000302.4(PLOD1):c.742-6C>T
|
rs569632202
|
0.00002
|
NM_000310.4(PPT1):c.537-12T>C
|
rs1057515556
|
0.00002
|
NM_000335.5(SCN5A):c.2001C>T (p.Ser667=)
|
rs587781161
|
0.00002
|
NM_000335.5(SCN5A):c.3381C>T (p.Cys1127=)
|
rs561922849
|
0.00002
|
NM_000335.5(SCN5A):c.3795C>T (p.Tyr1265=)
|
rs371610895
|
0.00002
|
NM_000335.5(SCN5A):c.495C>T (p.Thr165=)
|
rs62242804
|
0.00002
|
NM_000343.4(SLC5A1):c.1725G>A (p.Ala575=)
|
rs368853644
|
0.00002
|
NM_000350.3(ABCA4):c.3063T>G (p.Ala1021=)
|
rs886046565
|
0.00002
|
NM_000350.3(ABCA4):c.3540G>A (p.Ser1180=)
|
rs767212006
|
0.00002
|
NM_000350.3(ABCA4):c.3867C>T (p.Gly1289=)
|
rs573418899
|
0.00002
|
NM_000350.3(ABCA4):c.4194C>T (p.Gly1398=)
|
rs763857670
|
0.00002
|
NM_000360.4(TH):c.1422C>T (p.Ala474=)
|
rs375735482
|
0.00002
|
NM_000360.4(TH):c.360G>A (p.Arg120=)
|
rs761868828
|
0.00002
|
NM_000365.6(TPI1):c.543+5C>G
|
rs782153322
|
0.00002
|
NM_000368.5(TSC1):c.2323C>T (p.Leu775Phe)
|
rs868755168
|
0.00002
|
NM_000387.6(SLC25A20):c.719-10T>C
|
rs769684089
|
0.00002
|
NM_000387.6(SLC25A20):c.894C>A (p.Thr298=)
|
rs766966542
|
0.00002
|
NM_000391.4(TPP1):c.1281G>A (p.Thr427=)
|
rs577520250
|
0.00002
|
NM_000391.4(TPP1):c.1552-9C>T
|
rs369699167
|
0.00002
|
NM_000417.3(IL2RA):c.669G>A (p.Gln223=)
|
rs539966138
|
0.00002
|
NM_000419.5(ITGA2B):c.3061-4C>T
|
rs530669664
|
0.00002
|
NM_000426.4(LAMA2):c.5072-10C>A
|
rs552989582
|
0.00002
|
NM_000426.4(LAMA2):c.6567C>T (p.Ala2189=)
|
rs748650667
|
0.00002
|
NM_000426.4(LAMA2):c.7231G>A (p.Val2411Ile)
|
rs199814707
|
0.00002
|
NM_000429.3(MAT1A):c.1059C>T (p.Phe353=)
|
rs777896485
|
0.00002
|
NM_000429.3(MAT1A):c.1074C>T (p.Gly358=)
|
rs373567910
|
0.00002
|
NM_000429.3(MAT1A):c.642G>A (p.Thr214=)
|
rs539772339
|
0.00002
|
NM_000433.4(NCF2):c.196C>A (p.Arg66=)
|
rs750782115
|
0.00002
|
NM_000454.5(SOD1):c.66G>A (p.Glu22=)
|
rs756458346
|
0.00002
|
NM_000492.4(CFTR):c.2259C>T (p.Ser753=)
|
rs201888075
|
0.00002
|
NM_000492.4(CFTR):c.3024C>T (p.Val1008=)
|
rs774643457
|
0.00002
|
NM_000492.4(CFTR):c.627A>G (p.Ala209=)
|
rs397508773
|
0.00002
|
NM_000501.4(ELN):c.2131+14C>T
|
rs782790041
|
0.00002
|
NM_000506.5(F2):c.882C>T (p.Ala294=)
|
rs370819135
|
0.00002
|
NM_000512.5(GALNS):c.1059G>A (p.Ala353=)
|
rs768334388
|
0.00002
|
NM_000512.5(GALNS):c.256C>T (p.Leu86=)
|
rs190707335
|
0.00002
|
NM_000521.4(HEXB):c.1083-14A>C
|
rs776536464
|
0.00002
|
NM_000527.5(LDLR):c.2100C>T (p.Asp700=)
|
rs759858813
|
0.00002
|
NM_000528.4(MAN2B1):c.1587G>T (p.Pro529=)
|
rs771761940
|
0.00002
|
NM_000528.4(MAN2B1):c.2469C>T (p.Arg823=)
|
rs561895292
|
0.00002
|
NM_000532.5(PCCB):c.45C>T (p.Ser15=)
|
rs754664563
|
0.00002
|
NM_000532.5(PCCB):c.889C>T (p.Arg297Cys)
|
rs549397464
|
0.00002
|
NM_000535.7(PMS2):c.1170G>A (p.Ala390=)
|
rs755578413
|
0.00002
|
NM_000540.3(RYR1):c.10230G>A (p.Pro3410=)
|
rs774663618
|
0.00002
|
NM_000540.3(RYR1):c.11385C>T (p.Ser3795=)
|
rs757745087
|
0.00002
|
NM_000540.3(RYR1):c.12624+9A>G
|
rs548515798
|
0.00002
|
NM_000540.3(RYR1):c.13617C>T (p.Gly4539=)
|
rs2302296
|
0.00002
|
NM_000540.3(RYR1):c.14697G>A (p.Gly4899=)
|
rs770698609
|
0.00002
|
NM_000540.3(RYR1):c.3123C>T (p.Ala1041=)
|
rs569565316
|
0.00002
|
NM_000540.3(RYR1):c.3252C>T (p.Ser1084=)
|
rs144164620
|
0.00002
|
NM_000540.3(RYR1):c.4980C>T (p.Arg1660=)
|
rs374115286
|
0.00002
|
NM_000540.3(RYR1):c.7488G>A (p.Pro2496=)
|
rs375997435
|
0.00002
|
NM_000540.3(RYR1):c.7855C>T (p.Leu2619=)
|
rs762212220
|
0.00002
|
NM_000540.3(RYR1):c.8466G>A (p.Thr2822=)
|
rs761622550
|
0.00002
|
NM_000540.3(RYR1):c.9122+8G>A
|
rs772116480
|
0.00002
|
NM_000540.3(RYR1):c.9555-14G>A
|
rs763353979
|
0.00002
|
NM_000540.3(RYR1):c.9825C>T (p.Pro3275=)
|
rs753425281
|
0.00002
|
NM_000553.6(WRN):c.3417T>C (p.Ser1139=)
|
rs752542644
|
0.00002
|
NM_000642.3(AGL):c.2682-7T>C
|
rs375256646
|
0.00002
|
NM_000751.3(CHRND):c.893G>A (p.Arg298His)
|
rs139722128
|
0.00002
|
NM_000784.4(CYP27A1):c.322C>T (p.Leu108=)
|
rs192344487
|
0.00002
|
NM_000784.4(CYP27A1):c.507G>A (p.Ala169=)
|
rs776260288
|
0.00002
|
NM_000784.4(CYP27A1):c.525G>A (p.Thr175=)
|
rs200506778
|
0.00002
|
NM_000784.4(CYP27A1):c.666C>T (p.Phe222=)
|
rs751692931
|
0.00002
|
NM_000784.4(CYP27A1):c.747G>A (p.Gln249=)
|
rs764766872
|
0.00002
|
NM_001005242.3(PKP2):c.1887C>T (p.Gly629=)
|
rs368325383
|
0.00002
|
NM_001005242.3(PKP2):c.387G>A (p.Gln129=)
|
rs768974835
|
0.00002
|
NM_001005373.4(LRSAM1):c.1159+13A>T
|
rs756667241
|
0.00002
|
NM_001025603.2(RFX5):c.1236A>G (p.Thr412=)
|
rs771403545
|
0.00002
|
NM_001025603.2(RFX5):c.1797G>A (p.Val599=)
|
rs772352167
|
0.00002
|
NM_001025603.2(RFX5):c.807T>G (p.Gly269=)
|
rs147137349
|
0.00002
|
NM_001025603.2(RFX5):c.858+13G>A
|
rs778371620
|
0.00002
|
NM_001032386.2(SUOX):c.192C>T (p.Leu64=)
|
rs577360771
|
0.00002
|
NM_001035.3(RYR2):c.10517G>A (p.Arg3506Gln)
|
rs748805290
|
0.00002
|
NM_001035.3(RYR2):c.1404G>A (p.Glu468=)
|
rs768538183
|
0.00002
|
NM_001035.3(RYR2):c.4899T>C (p.Pro1633=)
|
rs1060503853
|
0.00002
|
NM_001035.3(RYR2):c.5428G>C (p.Val1810Leu)
|
rs754364233
|
0.00002
|
NM_001040108.2(MLH3):c.3020A>G (p.Asn1007Ser)
|
rs776639203
|
0.00002
|
NM_001040436.3(YARS2):c.626A>G (p.Lys209Arg)
|
rs541554381
|
0.00002
|
NM_001040716.2(PC):c.1377C>T (p.Ile459=)
|
rs201776268
|
0.00002
|
NM_001040716.2(PC):c.1514-13G>A
|
rs773976056
|
0.00002
|
NM_001040716.2(PC):c.1664G>A (p.Arg555Gln)
|
rs148613404
|
0.00002
|
NM_001040716.2(PC):c.3213C>T (p.Ala1071=)
|
rs774982916
|
0.00002
|
NM_001040716.2(PC):c.543C>T (p.His181=)
|
rs139717038
|
0.00002
|
NM_001042492.3(NF1):c.2023G>A (p.Gly675Arg)
|
rs779546178
|
0.00002
|
NM_001042492.3(NF1):c.7457+8G>T
|
rs376147282
|
0.00002
|
NM_001065.4(TNFRSF1A):c.228G>A (p.Gly76=)
|
rs104895274
|
0.00002
|
NM_001080.3(ALDH5A1):c.1320C>T (p.Phe440=)
|
rs771829991
|
0.00002
|
NM_001083116.3(PRF1):c.1305G>A (p.Thr435=)
|
rs200167080
|
0.00002
|
NM_001114753.3(ENG):c.1806C>T (p.Ile602=)
|
rs373002544
|
0.00002
|
NM_001130823.3(DNMT1):c.867C>T (p.Asp289=)
|
rs750916721
|
0.00002
|
NM_001130987.2(DYSF):c.1255C>T (p.Arg419Trp)
|
rs527435707
|
0.00002
|
NM_001130987.2(DYSF):c.1917G>A (p.Gly639=)
|
rs769518034
|
0.00002
|
NM_001130987.2(DYSF):c.3321C>T (p.Phe1107=)
|
rs945602962
|
0.00002
|
NM_001130987.2(DYSF):c.4932C>T (p.Ile1644=)
|
rs763309812
|
0.00002
|
NM_001130987.2(DYSF):c.6254C>A (p.Ala2085Asp)
|
rs1271141178
|
0.00002
|
NM_001134363.3(RBM20):c.1135G>A (p.Gly379Arg)
|
rs199842148
|
0.00002
|
NM_001134363.3(RBM20):c.1748G>A (p.Gly583Asp)
|
rs767827357
|
0.00002
|
NM_001134363.3(RBM20):c.954A>G (p.Gln318=)
|
rs766779254
|
0.00002
|
NM_001134407.3(GRIN2A):c.1380C>T (p.Cys460=)
|
rs375291296
|
0.00002
|
NM_001148.6(ANK2):c.11652A>G (p.Glu3884=)
|
rs752145926
|
0.00002
|
NM_001160372.4(TRAPPC9):c.2988G>A (p.Glu996=)
|
rs142048892
|
0.00002
|
NM_001161352.2(KCNMA1):c.3138C>G (p.Leu1046=)
|
rs766964098
|
0.00002
|
NM_001164508.2(NEB):c.12258G>C (p.Leu4086=)
|
rs371771414
|
0.00002
|
NM_001164508.2(NEB):c.16735C>T (p.Arg5579Cys)
|
rs762876022
|
0.00002
|
NM_001164508.2(NEB):c.17161G>A (p.Val5721Met)
|
rs746737604
|
0.00002
|
NM_001164508.2(NEB):c.19385C>T (p.Pro6462Leu)
|
rs369054525
|
0.00002
|
NM_001164508.2(NEB):c.25028G>A (p.Arg8343Gln)
|
rs886054926
|
0.00002
|
NM_001164508.2(NEB):c.25414C>T (p.Arg8472Cys)
|
rs542706227
|
0.00002
|
NM_001164508.2(NEB):c.2940T>C (p.Asn980=)
|
rs1472489170
|
0.00002
|
NM_001164508.2(NEB):c.3094C>T (p.Pro1032Ser)
|
rs544334101
|
0.00002
|
NM_001164508.2(NEB):c.4548T>C (p.Tyr1516=)
|
rs748479655
|
0.00002
|
NM_001164508.2(NEB):c.4666C>T (p.Pro1556Ser)
|
rs756692621
|
0.00002
|
NM_001164508.2(NEB):c.7233A>G (p.Leu2411=)
|
rs1023030953
|
0.00002
|
NM_001164688.2(RD3):c.102G>A (p.Thr34=)
|
rs199511076
|
0.00002
|
NM_001166114.2(PNPLA6):c.2028G>A (p.Lys676=)
|
rs779751590
|
0.00002
|
NM_001256545.2(MEGF10):c.2919G>A (p.Val973=)
|
rs770936974
|
0.00002
|
NM_001267550.2(TTN):c.21800G>A (p.Gly7267Asp)
|
rs375627540
|
0.00002
|
NM_001267550.2(TTN):c.74549A>G (p.Asp24850Gly)
|
rs573415766
|
0.00002
|
NM_001277115.2(DNAH11):c.1053G>A (p.Glu351=)
|
rs201475447
|
0.00002
|
NM_001297.5(CNGB1):c.1482T>C (p.Ser494=)
|
rs769840807
|
0.00002
|
NM_001355436.2(SPTB):c.3311C>G (p.Ala1104Gly)
|
rs374648585
|
0.00002
|
NM_001360.3(DHCR7):c.99-11C>T
|
rs371964662
|
0.00002
|
NM_001365088.1(SLC12A6):c.2385C>T (p.Val795=)
|
rs562984167
|
0.00002
|
NM_001365088.1(SLC12A6):c.576C>T (p.Tyr192=)
|
rs774081365
|
0.00002
|
NM_001365088.1(SLC12A6):c.849C>T (p.Tyr283=)
|
rs753466496
|
0.00002
|
NM_001365536.1(SCN9A):c.2496A>C (p.Ser832=)
|
rs200185692
|
0.00002
|
NM_001368067.1(LDB3):c.456G>A (p.Ala152=)
|
rs371708921
|
0.00002
|
NM_001369.3(DNAH5):c.13005C>T (p.Thr4335=)
|
rs755271975
|
0.00002
|
NM_001369369.1(FOXN1):c.147G>A (p.Ser49=)
|
rs148006498
|
0.00002
|
NM_001370658.1(BTD):c.1425C>A (p.Ile475=)
|
rs780182371
|
0.00002
|
NM_001372051.1(CASP8):c.843C>A (p.Ile281=)
|
rs199934929
|
0.00002
|
NM_001376.5(DYNC1H1):c.10575T>C (p.Arg3525=)
|
rs763119040
|
0.00002
|
NM_001376.5(DYNC1H1):c.10833G>C (p.Arg3611=)
|
rs35143882
|
0.00002
|
NM_001376.5(DYNC1H1):c.11056-10A>G
|
rs751676054
|
0.00002
|
NM_001376.5(DYNC1H1):c.2352C>T (p.Ser784=)
|
rs149028205
|
0.00002
|
NM_001376.5(DYNC1H1):c.3033A>G (p.Glu1011=)
|
rs755543897
|
0.00002
|
NM_001376.5(DYNC1H1):c.5424A>G (p.Leu1808=)
|
rs770425304
|
0.00002
|
NM_001376.5(DYNC1H1):c.6339G>A (p.Arg2113=)
|
rs776544497
|
0.00002
|
NM_001376.5(DYNC1H1):c.7077C>T (p.Cys2359=)
|
rs200885538
|
0.00002
|
NM_001377.3(DYNC2H1):c.4127+10A>G
|
rs369188420
|
0.00002
|
NM_001377.3(DYNC2H1):c.5212G>A (p.Gly1738Ser)
|
rs370669724
|
0.00002
|
NM_001378964.1(CDON):c.2159-14G>A
|
rs752818698
|
0.00002
|
NM_001384474.1(LOXHD1):c.6333C>T (p.Tyr2111=)
|
rs374858340
|
0.00002
|
NM_001386393.1(PANK2):c.694T>C (p.Leu232=)
|
rs143090515
|
0.00002
|
NM_001395413.1(POR):c.1143G>A (p.Pro381=)
|
rs375444057
|
0.00002
|
NM_001395413.1(POR):c.1389+10G>A
|
rs782345141
|
0.00002
|
NM_001395413.1(POR):c.1926C>T (p.Thr642=)
|
rs557596726
|
0.00002
|
NM_001457.4(FLNB):c.1628T>C (p.Val543Ala)
|
rs773177128
|
0.00002
|
NM_001457.4(FLNB):c.2529C>T (p.His843=)
|
rs762942290
|
0.00002
|
NM_001457.4(FLNB):c.6108C>T (p.Ser2036=)
|
rs767210448
|
0.00002
|
NM_001457.4(FLNB):c.7167C>T (p.Ala2389=)
|
rs781119139
|
0.00002
|
NM_001540.5(HSPB1):c.216C>T (p.Ala72=)
|
rs11547168
|
0.00002
|
NM_001698.3(AUH):c.655+7G>A
|
rs748099966
|
0.00002
|
NM_001844.5(COL2A1):c.1138A>G (p.Thr380Ala)
|
rs748511528
|
0.00002
|
NM_001844.5(COL2A1):c.4250A>G (p.Asn1417Ser)
|
rs537186508
|
0.00002
|
NM_001999.4(FBN2):c.1253T>C (p.Met418Thr)
|
rs769840338
|
0.00002
|
NM_001999.4(FBN2):c.1685C>T (p.Ala562Val)
|
rs886059902
|
0.00002
|
NM_001999.4(FBN2):c.1961G>A (p.Arg654His)
|
rs780589159
|
0.00002
|
NM_001999.4(FBN2):c.2036C>T (p.Ser679Phe)
|
rs760483684
|
0.00002
|
NM_001999.4(FBN2):c.2902A>G (p.Asn968Asp)
|
rs774248421
|
0.00002
|
NM_001999.4(FBN2):c.4489T>G (p.Phe1497Val)
|
rs150986564
|
0.00002
|
NM_001999.4(FBN2):c.7137T>G (p.Leu2379=)
|
rs765676702
|
0.00002
|
NM_002185.5(IL7R):c.111C>T (p.Asp37=)
|
rs763937095
|
0.00002
|
NM_002185.5(IL7R):c.990G>A (p.Gln330=)
|
rs201093124
|
0.00002
|
NM_002225.5(IVD):c.1138+13C>T
|
rs770658726
|
0.00002
|
NM_002292.4(LAMB2):c.3273T>C (p.Gly1091=)
|
rs369406683
|
0.00002
|
NM_002474.3(MYH11):c.1401+10G>A
|
rs375209947
|
0.00002
|
NM_002474.3(MYH11):c.1879G>A (p.Gly627Ser)
|
rs563865467
|
0.00002
|
NM_002474.3(MYH11):c.2010C>T (p.Asn670=)
|
rs774336703
|
0.00002
|
NM_002474.3(MYH11):c.5772C>G (p.Leu1924=)
|
rs774511118
|
0.00002
|
NM_002485.5(NBN):c.1125-3C>T
|
rs587781326
|
0.00002
|
NM_002529.4(NTRK1):c.1917G>A (p.Val639=)
|
rs760171782
|
0.00002
|
NM_002529.4(NTRK1):c.2047-8C>T
|
rs769308621
|
0.00002
|
NM_002529.4(NTRK1):c.2169C>T (p.Tyr723=)
|
rs140852621
|
0.00002
|
NM_002693.3(POLG):c.3549C>T (p.Val1183=)
|
rs777231247
|
0.00002
|
NM_002778.4(PSAP):c.112A>T (p.Thr38Ser)
|
rs535525554
|
0.00002
|
NM_002778.4(PSAP):c.1197C>T (p.His399=)
|
rs748761213
|
0.00002
|
NM_002778.4(PSAP):c.40+12G>A
|
rs886047153
|
0.00002
|
NM_003060.4(SLC22A5):c.522C>T (p.Phe174=)
|
rs145350949
|
0.00002
|
NM_003119.4(SPG7):c.619-7C>A
|
rs779835775
|
0.00002
|
NM_003238.6(TGFB2):c.1087-13T>G
|
rs374394434
|
0.00002
|
NM_003283.6(TNNT1):c.73+15T>G
|
rs759885491
|
0.00002
|
NM_003331.5(TYK2):c.3201-15C>T
|
rs766488790
|
0.00002
|
NM_003331.5(TYK2):c.3555C>T (p.Ser1185=)
|
rs372903125
|
0.00002
|
NM_003334.4(UBA1):c.954G>A (p.Thr318=)
|
rs368506746
|
0.00002
|
NM_003560.4(PLA2G6):c.1348+10G>A
|
rs761202760
|
0.00002
|
NM_003721.4(RFXANK):c.240C>T (p.Asn80=)
|
rs754519730
|
0.00002
|
NM_003722.5(TP63):c.1761G>A (p.Leu587=)
|
rs573105911
|
0.00002
|
NM_003764.4(STX11):c.585C>A (p.Ala195=)
|
rs147525157
|
0.00002
|
NM_003896.4(ST3GAL5):c.1059C>T (p.Cys353=)
|
rs149801673
|
0.00002
|
NM_003896.4(ST3GAL5):c.852A>G (p.Pro284=)
|
rs534535305
|
0.00002
|
NM_003982.4(SLC7A7):c.342C>T (p.Phe114=)
|
rs777682875
|
0.00002
|
NM_004004.6(GJB2):c.510C>T (p.Asn170=)
|
rs763068053
|
0.00002
|
NM_004035.7(ACOX1):c.510G>A (p.Val170=)
|
rs752375436
|
0.00002
|
NM_004100.5(EYA4):c.1107+10C>G
|
rs752586864
|
0.00002
|
NM_004181.5(UCHL1):c.412-4G>A
|
rs765745344
|
0.00002
|
NM_004239.4(TRIP11):c.477C>T (p.Asp159=)
|
rs147932068
|
0.00002
|
NM_004239.4(TRIP11):c.657+9A>C
|
rs182914589
|
0.00002
|
NM_004304.5(ALK):c.3939-9C>T
|
rs749848775
|
0.00002
|
NM_004320.6(ATP2A1):c.1314C>T (p.Gly438=)
|
rs757274362
|
0.00002
|
NM_004320.6(ATP2A1):c.2082C>T (p.Tyr694=)
|
rs749931257
|
0.00002
|
NM_004415.4(DSP):c.1149A>G (p.Glu383=)
|
rs572980966
|
0.00002
|
NM_004415.4(DSP):c.2719C>T (p.Arg907Cys)
|
rs749051278
|
0.00002
|
NM_004415.4(DSP):c.3147G>A (p.Ser1049=)
|
rs756341143
|
0.00002
|
NM_004415.4(DSP):c.3303C>T (p.Tyr1101=)
|
rs372440854
|
0.00002
|
NM_004415.4(DSP):c.4478A>C (p.Glu1493Ala)
|
rs760433367
|
0.00002
|
NM_004415.4(DSP):c.7622G>A (p.Arg2541Lys)
|
rs142078450
|
0.00002
|
NM_004415.4(DSP):c.7883T>C (p.Leu2628Pro)
|
rs147484870
|
0.00002
|
NM_004415.4(DSP):c.8374T>A (p.Ser2792Thr)
|
rs727504570
|
0.00002
|
NM_004655.4(AXIN2):c.897C>T (p.Asp299=)
|
rs748143308
|
0.00002
|
NM_004870.4(MPDU1):c.121C>G (p.Leu41Val)
|
rs199498675
|
0.00002
|
NM_005159.5(ACTC1):c.-36C>G
|
rs886051091
|
0.00002
|
NM_005198.5(CHKB):c.745T>C (p.Leu249=)
|
rs760310819
|
0.00002
|
NM_005271.5(GLUD1):c.330G>A (p.Lys110=)
|
rs199752396
|
0.00002
|
NM_005518.4(HMGCS2):c.1236T>C (p.Tyr412=)
|
rs773364048
|
0.00002
|
NM_005535.3(IL12RB1):c.1173G>A (p.Pro391=)
|
rs772239442
|
0.00002
|
NM_005535.3(IL12RB1):c.1746C>T (p.Pro582=)
|
rs759839534
|
0.00002
|
NM_005535.3(IL12RB1):c.1818C>T (p.Asp606=)
|
rs886054300
|
0.00002
|
NM_005535.3(IL12RB1):c.561A>T (p.Gly187=)
|
rs200542111
|
0.00002
|
NM_005566.4(LDHA):c.249T>C (p.Tyr83=)
|
rs199653952
|
0.00002
|
NM_005591.4(MRE11):c.1233G>A (p.Glu411=)
|
rs748756180
|
0.00002
|
NM_005591.4(MRE11):c.1404T>C (p.Asp468=)
|
rs368144567
|
0.00002
|
NM_005591.4(MRE11):c.1758G>A (p.Ser586=)
|
rs766372720
|
0.00002
|
NM_005609.4(PYGM):c.1239+8C>T
|
rs886048461
|
0.00002
|
NM_005609.4(PYGM):c.346-9C>T
|
rs368998655
|
0.00002
|
NM_005677.4(COLQ):c.942G>A (p.Pro314=)
|
rs771944316
|
0.00002
|
NM_005787.6(ALG3):c.606-10C>T
|
rs372141050
|
0.00002
|
NM_005908.4(MANBA):c.1317+14C>A
|
rs200935345
|
0.00002
|
NM_006005.3(WFS1):c.1290G>A (p.Ser430=)
|
rs752100338
|
0.00002
|
NM_006005.3(WFS1):c.2157C>T (p.Ala719=)
|
rs766900991
|
0.00002
|
NM_006005.3(WFS1):c.2453G>A (p.Arg818His)
|
rs575851859
|
0.00002
|
NM_006005.3(WFS1):c.345C>T (p.Gly115=)
|
rs200385504
|
0.00002
|
NM_006087.4(TUBB4A):c.666C>T (p.Tyr222=)
|
rs146906606
|
0.00002
|
NM_006206.6(PDGFRA):c.2811G>A (p.Pro937=)
|
rs190260215
|
0.00002
|
NM_006371.5(CRTAP):c.1068+11T>C
|
rs761750861
|
0.00002
|
NM_006371.5(CRTAP):c.282C>T (p.Pro94=)
|
rs540998437
|
0.00002
|
NM_006892.4(DNMT3B):c.516C>T (p.Asp172=)
|
rs202113400
|
0.00002
|
NM_006892.4(DNMT3B):c.810C>T (p.Ser270=)
|
rs140518698
|
0.00002
|
NM_007294.4(BRCA1):c.4245A>G (p.Glu1415=)
|
rs41293453
|
0.00002
|
NM_007375.4(TARDBP):c.963C>T (p.Ala321=)
|
rs547979470
|
0.00002
|
NM_013247.5(HTRA2):c.873T>C (p.Asn291=)
|
rs775948550
|
0.00002
|
NM_014000.3(VCL):c.1404G>A (p.Thr468=)
|
rs772104870
|
0.00002
|
NM_014000.3(VCL):c.808T>C (p.Leu270=)
|
rs727505339
|
0.00002
|
NM_014140.4(SMARCAL1):c.600G>A (p.Ser200=)
|
rs530505647
|
0.00002
|
NM_014141.6(CNTNAP2):c.1248G>A (p.Ala416=)
|
rs779901891
|
0.00002
|
NM_014141.6(CNTNAP2):c.2255+12C>T
|
rs749270618
|
0.00002
|
NM_014141.6(CNTNAP2):c.2340A>G (p.Ser780=)
|
rs778124698
|
0.00002
|
NM_014244.5(ADAMTS2):c.2172G>C (p.Val724=)
|
rs150587776
|
0.00002
|
NM_014244.5(ADAMTS2):c.3423G>A (p.Glu1141=)
|
rs886060490
|
0.00002
|
NM_014249.4(NR2E3):c.572-13C>T
|
rs376114936
|
0.00002
|
NM_014290.3(TDRD7):c.1032A>G (p.Lys344=)
|
rs111320552
|
0.00002
|
NM_014336.5(AIPL1):c.414C>T (p.Asp138=)
|
rs565896898
|
0.00002
|
NM_014339.7(IL17RA):c.1167C>G (p.Pro389=)
|
rs139412425
|
0.00002
|
NM_014363.6(SACS):c.10485G>A (p.Glu3495=)
|
rs757255802
|
0.00002
|
NM_014363.6(SACS):c.5222C>T (p.Thr1741Ile)
|
rs201724656
|
0.00002
|
NM_014363.6(SACS):c.6240T>C (p.Val2080=)
|
rs550680855
|
0.00002
|
NM_014363.6(SACS):c.8958C>T (p.His2986=)
|
rs758029668
|
0.00002
|
NM_014384.3(ACAD8):c.491-6C>T
|
rs772337149
|
0.00002
|
NM_014585.6(SLC40A1):c.272-14C>T
|
rs771203234
|
0.00002
|
NM_014714.4(IFT140):c.1155+15G>A
|
rs764275810
|
0.00002
|
NM_014714.4(IFT140):c.1944C>T (p.Pro648=)
|
rs763449097
|
0.00002
|
NM_014714.4(IFT140):c.3390C>T (p.Ser1130=)
|
rs765923171
|
0.00002
|
NM_014714.4(IFT140):c.3602G>A (p.Arg1201His)
|
rs147292597
|
0.00002
|
NM_014855.3(AP5Z1):c.702C>T (p.Asp234=)
|
rs370728528
|
0.00002
|
NM_014946.4(SPAST):c.*11T>C
|
rs753913367
|
0.00002
|
NM_015192.4(PLCB1):c.3477C>T (p.Leu1159=)
|
rs774970817
|
0.00002
|
NM_015272.5(RPGRIP1L):c.2658G>A (p.Ser886=)
|
rs775153934
|
0.00002
|
NM_015915.5(ATL1):c.756C>T (p.Asn252=)
|
rs771031586
|
0.00002
|
NM_016042.4(EXOSC3):c.324+15C>T
|
rs775818894
|
0.00002
|
NM_016123.4(IRAK4):c.1191A>G (p.Leu397=)
|
rs773095217
|
0.00002
|
NM_016219.5(MAN1B1):c.1255-13C>T
|
rs765403325
|
0.00002
|
NM_016219.5(MAN1B1):c.657C>T (p.Thr219=)
|
rs564784943
|
0.00002
|
NM_016219.5(MAN1B1):c.975C>T (p.Asp325=)
|
rs202157161
|
0.00002
|
NM_017534.6(MYH2):c.5115A>G (p.Arg1705=)
|
rs1042270
|
0.00002
|
NM_017636.4(TRPM4):c.3377C>G (p.Ser1126Trp)
|
rs567938424
|
0.00002
|
NM_017866.6(TMEM70):c.210+11C>G
|
rs928358741
|
0.00002
|
NM_018100.4(EFHC1):c.43A>G (p.Thr15Ala)
|
rs750899949
|
0.00002
|
NM_018129.4(PNPO):c.16C>A (p.Arg6=)
|
rs765997859
|
0.00002
|
NM_018206.6(VPS35):c.1809A>T (p.Ala603=)
|
rs142063738
|
0.00002
|
NM_018206.6(VPS35):c.648G>A (p.Leu216=)
|
rs763697798
|
0.00002
|
NM_018368.4(LMBRD1):c.897C>T (p.Gly299=)
|
rs757392138
|
0.00002
|
NM_018389.5(SLC35C1):c.51C>T (p.Thr17=)
|
rs768517924
|
0.00002
|
NM_018714.3(COG1):c.1890G>A (p.Gln630=)
|
rs146046236
|
0.00002
|
NM_018834.6(MATR3):c.2114G>T (p.Ser705Ile)
|
rs201970174
|
0.00002
|
NM_019892.6(INPP5E):c.1407C>T (p.Phe469=)
|
rs377483407
|
0.00002
|
NM_020166.5(MCCC1):c.144C>T (p.Asn48=)
|
rs77681010
|
0.00002
|
NM_020366.4(RPGRIP1):c.1401A>G (p.Gln467=)
|
rs184853466
|
0.00002
|
NM_020376.4(PNPLA2):c.1090C>T (p.Arg364Trp)
|
rs577421006
|
0.00002
|
NM_020376.4(PNPLA2):c.36C>T (p.Phe12=)
|
rs750233571
|
0.00002
|
NM_020533.3(MCOLN1):c.1237-12G>A
|
rs763017059
|
0.00002
|
NM_020533.3(MCOLN1):c.815C>G (p.Pro272Arg)
|
rs183077397
|
0.00002
|
NM_020661.4(AICDA):c.376C>T (p.Leu126=)
|
rs999930122
|
0.00002
|
NM_020975.6(RET):c.1920C>T (p.Ala640=)
|
rs149768519
|
0.00002
|
NM_021625.5(TRPV4):c.651G>A (p.Ala217=)
|
rs371280831
|
0.00002
|
NM_022041.4(GAN):c.1518C>T (p.Asn506=)
|
rs886052333
|
0.00002
|
NM_022051.3(EGLN1):c.522C>T (p.Ser174=)
|
rs767045832
|
0.00002
|
NM_022124.6(CDH23):c.1062C>T (p.Ser354=)
|
rs775091135
|
0.00002
|
NM_022124.6(CDH23):c.1472C>T (p.Thr491Ile)
|
rs397517307
|
0.00002
|
NM_022124.6(CDH23):c.321C>G (p.Val107=)
|
rs761122371
|
0.00002
|
NM_022124.6(CDH23):c.4589C>T (p.Pro1530Leu)
|
rs554938323
|
0.00002
|
NM_022356.4(P3H1):c.1620C>T (p.Asn540=)
|
rs140334418
|
0.00002
|
NM_022356.4(P3H1):c.1944C>T (p.Ala648=)
|
rs760909376
|
0.00002
|
NM_022436.3(ABCG5):c.511G>A (p.Val171Ile)
|
rs777411661
|
0.00002
|
NM_022436.3(ABCG5):c.804C>T (p.Phe268=)
|
rs554183818
|
0.00002
|
NM_024105.4(ALG12):c.163-4G>A
|
rs776043296
|
0.00002
|
NM_024105.4(ALG12):c.57C>T (p.Ala19=)
|
rs763942380
|
0.00002
|
NM_024312.5(GNPTAB):c.513A>G (p.Ala171=)
|
rs371813268
|
0.00002
|
NM_024422.6(DSC2):c.1401G>A (p.Glu467=)
|
rs977781359
|
0.00002
|
NM_024513.4(FYCO1):c.3825G>A (p.Pro1275=)
|
rs748985200
|
0.00002
|
NM_024570.4(RNASEH2B):c.360C>T (p.Asn120=)
|
rs759273327
|
0.00002
|
NM_024675.4(PALB2):c.1379A>G (p.Gln460Arg)
|
rs749494645
|
0.00002
|
NM_024675.4(PALB2):c.1955G>A (p.Ser652Asn)
|
rs587781818
|
0.00002
|
NM_024757.5(EHMT1):c.183C>T (p.Ser61=)
|
rs774448433
|
0.00002
|
NM_025000.4(DCAF17):c.230+15A>G
|
rs778241115
|
0.00002
|
NM_025137.4(SPG11):c.1182G>A (p.Gly394=)
|
rs199968487
|
0.00002
|
NM_025137.4(SPG11):c.176C>T (p.Ala59Val)
|
rs552320263
|
0.00002
|
NM_025137.4(SPG11):c.3146-6T>G
|
rs777849932
|
0.00002
|
NM_025137.4(SPG11):c.5040G>T (p.Leu1680=)
|
rs748057725
|
0.00002
|
NM_025137.4(SPG11):c.5407C>T (p.Leu1803=)
|
rs200102584
|
0.00002
|
NM_025215.6(PUS1):c.216T>C (p.Gly72=)
|
rs766451588
|
0.00002
|
NM_025219.3(DNAJC5):c.444C>T (p.Phe148=)
|
rs772254851
|
0.00002
|
NM_031433.4(MFRP):c.303C>T (p.Ser101=)
|
rs530322096
|
0.00002
|
NM_031885.5(BBS2):c.1910+9T>G
|
rs751604858
|
0.00002
|
NM_031885.5(BBS2):c.2088T>C (p.Thr696=)
|
rs886052144
|
0.00002
|
NM_032409.3(PINK1):c.414G>A (p.Pro138=)
|
rs773637957
|
0.00002
|
NM_033305.3(VPS13A):c.7078G>A (p.Glu2360Lys)
|
rs370401336
|
0.00002
|
NM_053013.4(ENO3):c.555C>T (p.Gly185=)
|
rs757606682
|
0.00002
|
NM_053025.4(MYLK):c.1023T>G (p.Thr341=)
|
rs201619646
|
0.00002
|
NM_053025.4(MYLK):c.1359C>T (p.Pro453=)
|
rs200973568
|
0.00002
|
NM_058246.4(DNAJB6):c.885C>G (p.Leu295=)
|
rs758663546
|
0.00002
|
NM_080680.3(COL11A2):c.2848C>T (p.Pro950Ser)
|
rs768902062
|
0.00002
|
NM_133259.4(LRPPRC):c.96C>T (p.Gly32=)
|
rs886056064
|
0.00002
|
NM_133642.5(LARGE1):c.1320C>T (p.Asp440=)
|
rs772615481
|
0.00002
|
NM_138387.4(G6PC3):c.201C>T (p.Leu67=)
|
rs375273894
|
0.00002
|
NM_138694.4(PKHD1):c.2265G>A (p.Pro755=)
|
rs375603741
|
0.00002
|
NM_138694.4(PKHD1):c.2726G>A (p.Arg909Gln)
|
rs201753421
|
0.00002
|
NM_138694.4(PKHD1):c.5301T>C (p.Ala1767=)
|
rs886061618
|
0.00002
|
NM_138694.4(PKHD1):c.8503G>A (p.Gly2835Arg)
|
rs771108371
|
0.00002
|
NM_138711.6(PPARG):c.393T>C (p.Gly131=)
|
rs201126401
|
0.00002
|
NM_144687.4(NLRP12):c.2574A>G (p.Leu858=)
|
rs750552324
|
0.00002
|
NM_152263.4(TPM3):c.378-13C>T
|
rs367548433
|
0.00002
|
NM_152383.5(DIS3L2):c.2207C>T (p.Ala736Val)
|
rs780625125
|
0.00002
|
NM_152383.5(DIS3L2):c.519C>T (p.Ser173=)
|
rs143680532
|
0.00002
|
NM_152564.5(VPS13B):c.2583C>T (p.Cys861=)
|
rs199868590
|
0.00002
|
NM_152564.5(VPS13B):c.3813A>G (p.Thr1271=)
|
rs775071483
|
0.00002
|
NM_152564.5(VPS13B):c.3865A>G (p.Thr1289Ala)
|
rs752808333
|
0.00002
|
NM_152564.5(VPS13B):c.9831G>A (p.Pro3277=)
|
rs775601813
|
0.00002
|
NM_170707.4(LMNA):c.1698+57G>A
|
rs557334569
|
0.00002
|
NM_170707.4(LMNA):c.294G>A (p.Glu98=)
|
rs886045363
|
0.00002
|
NM_174936.4(PCSK9):c.10G>A (p.Val4Ile)
|
rs186669805
|
0.00002
|
NM_174936.4(PCSK9):c.1733T>A (p.Val578Glu)
|
rs765583923
|
0.00002
|
NM_174936.4(PCSK9):c.2022C>T (p.Ala674=)
|
rs886046436
|
0.00002
|
NM_177438.3(DICER1):c.406G>C (p.Glu136Gln)
|
rs768445477
|
0.00002
|
NM_177438.3(DICER1):c.5516G>A (p.Arg1839Gln)
|
rs587778233
|
0.00002
|
NM_182760.4(SUMF1):c.1014+12C>T
|
rs776947608
|
0.00002
|
NM_182914.3(SYNE2):c.12942G>A (p.Ala4314=)
|
rs762957203
|
0.00002
|
NM_182914.3(SYNE2):c.17691A>G (p.Gln5897=)
|
rs971473774
|
0.00002
|
NM_182914.3(SYNE2):c.18660C>T (p.His6220=)
|
rs757875136
|
0.00002
|
NM_182914.3(SYNE2):c.8991G>A (p.Gln2997=)
|
rs773209564
|
0.00002
|
NM_183050.4(BCKDHB):c.732C>T (p.Tyr244=)
|
rs537988425
|
0.00002
|
NM_198578.4(LRRK2):c.2070+9T>A
|
rs201389324
|
0.00002
|
NM_198578.4(LRRK2):c.6582T>C (p.Val2194=)
|
rs773085638
|
0.00002
|
NM_198578.4(LRRK2):c.839-4T>G
|
rs748213808
|
0.00002
|
NM_198904.4(GABRG2):c.759G>A (p.Lys253=)
|
rs202124575
|
0.00002
|
NM_199242.3(UNC13D):c.1890G>A (p.Ala630=)
|
rs753021453
|
0.00002
|
NM_206933.4(USH2A):c.1789C>A (p.His597Asn)
|
rs201127450
|
0.00002
|
NM_206937.2(LIG4):c.1252T>C (p.Leu418=)
|
rs147181971
|
0.00002
|
NM_206937.2(LIG4):c.1971T>C (p.Asn657=)
|
rs764483419
|
0.00002
|
NM_000017.4(ACADS):c.473-9T>G
|
rs751507296
|
0.00001
|
NM_000018.4(ACADVL):c.201G>A (p.Lys67=)
|
rs753577095
|
0.00001
|
NM_000018.4(ACADVL):c.216C>T (p.Ser72=)
|
rs761492981
|
0.00001
|
NM_000018.4(ACADVL):c.51C>T (p.Leu17=)
|
rs376733533
|
0.00001
|
NM_000018.4(ACADVL):c.867G>T (p.Gly289=)
|
rs745557512
|
0.00001
|
NM_000018.4(ACADVL):c.969G>A (p.Leu323=)
|
rs749734276
|
0.00001
|
NM_000019.4(ACAT1):c.1191T>C (p.His397=)
|
rs1439617035
|
0.00001
|
NM_000019.4(ACAT1):c.378T>C (p.Cys126=)
|
rs536301499
|
0.00001
|
NM_000019.4(ACAT1):c.532T>C (p.Leu178=)
|
rs370063325
|
0.00001
|
NM_000022.4(ADA):c.672A>G (p.Val224=)
|
rs753855163
|
0.00001
|
NM_000022.4(ADA):c.679-8C>T
|
rs886056707
|
0.00001
|
NM_000022.4(ADA):c.941A>G (p.Asp314Gly)
|
rs547569818
|
0.00001
|
NM_000026.4(ADSL):c.579G>C (p.Leu193=)
|
rs751928831
|
0.00001
|
NM_000027.4(AGA):c.657T>C (p.Ala219=)
|
rs886059261
|
0.00001
|
NM_000035.4(ALDOB):c.243C>T (p.His81=)
|
rs182003715
|
0.00001
|
NM_000035.4(ALDOB):c.270G>A (p.Gln90=)
|
rs1176960115
|
0.00001
|
NM_000035.4(ALDOB):c.309C>T (p.Ile103=)
|
rs747019279
|
0.00001
|
NM_000037.4(ANK1):c.237C>T (p.Asn79=)
|
rs372696694
|
0.00001
|
NM_000037.4(ANK1):c.711+13C>T
|
rs763737257
|
0.00001
|
NM_000038.6(APC):c.1722A>G (p.Glu574=)
|
rs786201277
|
0.00001
|
NM_000038.6(APC):c.2958T>C (p.Tyr986=)
|
rs746581330
|
0.00001
|
NM_000038.6(APC):c.3653C>T (p.Thr1218Met)
|
rs377640390
|
0.00001
|
NM_000038.6(APC):c.5712A>G (p.Gln1904=)
|
rs755851369
|
0.00001
|
NM_000038.6(APC):c.5952T>C (p.Asn1984=)
|
rs142019870
|
0.00001
|
NM_000038.6(APC):c.6492C>T (p.Gly2164=)
|
rs765332758
|
0.00001
|
NM_000038.6(APC):c.6624A>G (p.Glu2208=)
|
rs886059798
|
0.00001
|
NM_000038.6(APC):c.8100T>C (p.Asn2700=)
|
rs761326128
|
0.00001
|
NM_000045.4(ARG1):c.305+7T>C
|
rs886061060
|
0.00001
|
NM_000046.5(ARSB):c.1224C>T (p.Asn408=)
|
rs762454192
|
0.00001
|
NM_000048.4(ASL):c.1026G>C (p.Val342=)
|
rs768461888
|
0.00001
|
NM_000048.4(ASL):c.1230G>C (p.Leu410=)
|
rs1397223617
|
0.00001
|
NM_000048.4(ASL):c.474C>T (p.Tyr158=)
|
rs1361999742
|
0.00001
|
NM_000048.4(ASL):c.720C>T (p.Ala240=)
|
rs764072757
|
0.00001
|
NM_000049.4(ASPA):c.807G>A (p.Thr269=)
|
rs759106494
|
0.00001
|
NM_000051.4(ATM):c.1748A>G (p.Tyr583Cys)
|
rs587780614
|
0.00001
|
NM_000051.4(ATM):c.3256C>T (p.Arg1086Cys)
|
rs201780199
|
0.00001
|
NM_000051.4(ATM):c.3899A>G (p.Tyr1300Cys)
|
rs183263185
|
0.00001
|
NM_000051.4(ATM):c.3982T>C (p.Leu1328=)
|
rs876658204
|
0.00001
|
NM_000051.4(ATM):c.411C>T (p.Tyr137=)
|
rs756160533
|
0.00001
|
NM_000051.4(ATM):c.4365T>A (p.Ser1455Arg)
|
rs527471560
|
0.00001
|
NM_000051.4(ATM):c.4436+10A>G
|
rs878853509
|
0.00001
|
NM_000051.4(ATM):c.4977A>T (p.Ile1659=)
|
rs199888434
|
0.00001
|
NM_000051.4(ATM):c.6318T>C (p.Asn2106=)
|
rs864622730
|
0.00001
|
NM_000051.4(ATM):c.7502A>G (p.Asn2501Ser)
|
rs531617441
|
0.00001
|
NM_000051.4(ATM):c.7542T>C (p.Tyr2514=)
|
rs777925486
|
0.00001
|
NM_000053.4(ATP7B):c.2436T>C (p.Asn812=)
|
rs533967323
|
0.00001
|
NM_000053.4(ATP7B):c.3114G>A (p.Arg1038=)
|
rs761888880
|
0.00001
|
NM_000053.4(ATP7B):c.3151C>T (p.Leu1051=)
|
rs534622837
|
0.00001
|
NM_000053.4(ATP7B):c.3498T>C (p.Ser1166=)
|
rs587783314
|
0.00001
|
NM_000053.4(ATP7B):c.3625C>T (p.Leu1209=)
|
rs61957448
|
0.00001
|
NM_000053.4(ATP7B):c.363C>T (p.Phe121=)
|
rs370199412
|
0.00001
|
NM_000053.4(ATP7B):c.51+13C>T
|
rs770273498
|
0.00001
|
NM_000053.4(ATP7B):c.609C>T (p.Asp203=)
|
rs781140058
|
0.00001
|
NM_000057.4(BLM):c.1785A>T (p.Ser595=)
|
rs79871543
|
0.00001
|
NM_000057.4(BLM):c.2211G>C (p.Leu737=)
|
rs933356579
|
0.00001
|
NM_000057.4(BLM):c.2490G>A (p.Thr830=)
|
rs765233032
|
0.00001
|
NM_000057.4(BLM):c.3933C>T (p.Ala1311=)
|
rs756451802
|
0.00001
|
NM_000057.4(BLM):c.696C>A (p.Ser232Arg)
|
rs201845548
|
0.00001
|
NM_000059.4(BRCA2):c.1144A>C (p.Lys382Gln)
|
rs371454630
|
0.00001
|
NM_000059.4(BRCA2):c.2416G>C (p.Asp806His)
|
rs56404215
|
0.00001
|
NM_000059.4(BRCA2):c.4599A>C (p.Lys1533Asn)
|
rs80358694
|
0.00001
|
NM_000059.4(BRCA2):c.6706G>A (p.Glu2236Lys)
|
rs41293503
|
0.00001
|
NM_000059.4(BRCA2):c.6785T>G (p.Met2262Arg)
|
rs80358904
|
0.00001
|
NM_000059.4(BRCA2):c.7104G>A (p.Leu2368=)
|
rs764698623
|
0.00001
|
NM_000059.4(BRCA2):c.847A>G (p.Ile283Val)
|
rs80359097
|
0.00001
|
NM_000059.4(BRCA2):c.9032T>C (p.Leu3011Pro)
|
rs80359155
|
0.00001
|
NM_000059.4(BRCA2):c.909T>G (p.Ser303=)
|
rs757430441
|
0.00001
|
NM_000059.4(BRCA2):c.963A>G (p.Gln321=)
|
rs276174927
|
0.00001
|
NM_000061.3(BTK):c.852A>G (p.Lys284=)
|
rs1057515724
|
0.00001
|
NM_000070.3(CAPN3):c.1947G>A (p.Glu649=)
|
rs79440238
|
0.00001
|
NM_000070.3(CAPN3):c.2051-8C>T
|
rs754375124
|
0.00001
|
NM_000071.3(CBS):c.1065G>A (p.Ala355=)
|
rs748552493
|
0.00001
|
NM_000079.4(CHRNA1):c.1332C>T (p.Ala444=)
|
rs771587252
|
0.00001
|
NM_000079.4(CHRNA1):c.711C>T (p.Asn237=)
|
rs137852798
|
0.00001
|
NM_000081.4(LYST):c.2724C>T (p.Cys908=)
|
rs201440611
|
0.00001
|
NM_000090.4(COL3A1):c.183C>T (p.Leu61=)
|
rs753474870
|
0.00001
|
NM_000090.4(COL3A1):c.267A>G (p.Pro89=)
|
rs998965783
|
0.00001
|
NM_000096.4(CP):c.1380C>T (p.Thr460=)
|
rs149790356
|
0.00001
|
NM_000096.4(CP):c.2697T>C (p.Val899=)
|
rs17847022
|
0.00001
|
NM_000098.3(CPT2):c.1476C>T (p.Ala492=)
|
rs548364005
|
0.00001
|
NM_000103.4(CYP19A1):c.501C>A (p.Ser167=)
|
rs35900050
|
0.00001
|
NM_000108.5(DLD):c.375G>A (p.Glu125=)
|
rs559057715
|
0.00001
|
NM_000126.4(ETFA):c.78T>C (p.Ala26=)
|
rs773298687
|
0.00001
|
NM_000127.3(EXT1):c.1266T>A (p.Ile422=)
|
rs899395870
|
0.00001
|
NM_000130.5(F5):c.1545C>T (p.Ile515=)
|
rs886045551
|
0.00001
|
NM_000130.5(F5):c.3255A>C (p.Thr1085=)
|
rs6006
|
0.00001
|
NM_000130.5(F5):c.3810C>G (p.Ala1270=)
|
rs781657137
|
0.00001
|
NM_000130.5(F5):c.5001G>A (p.Pro1667=)
|
rs747456938
|
0.00001
|
NM_000130.5(F5):c.5788+4A>T
|
rs759428783
|
0.00001
|
NM_000130.5(F5):c.6360G>A (p.Lys2120=)
|
rs757104503
|
0.00001
|
NM_000133.4(F9):c.60A>G (p.Leu20=)
|
rs762082146
|
0.00001
|
NM_000135.4(FANCA):c.1007-7C>G
|
rs111271660
|
0.00001
|
NM_000135.4(FANCA):c.1632C>A (p.His544Gln)
|
rs553129361
|
0.00001
|
NM_000135.4(FANCA):c.1737C>T (p.Tyr579=)
|
rs529199293
|
0.00001
|
NM_000135.4(FANCA):c.1990A>G (p.Met664Val)
|
rs748579719
|
0.00001
|
NM_000135.4(FANCA):c.3274G>A (p.Gly1092Ser)
|
rs772828870
|
0.00001
|
NM_000135.4(FANCA):c.3525G>A (p.Pro1175=)
|
rs765106818
|
0.00001
|
NM_000135.4(FANCA):c.3626+7G>A
|
rs933657325
|
0.00001
|
NM_000135.4(FANCA):c.3733C>A (p.Gln1245Lys)
|
rs745665658
|
0.00001
|
NM_000135.4(FANCA):c.3843G>A (p.Leu1281=)
|
rs768380959
|
0.00001
|
NM_000135.4(FANCA):c.59G>A (p.Arg20Lys)
|
rs376307136
|
0.00001
|
NM_000135.4(FANCA):c.695G>A (p.Arg232Lys)
|
rs886052487
|
0.00001
|
NM_000136.3(FANCC):c.1281C>T (p.Ala427=)
|
rs754604606
|
0.00001
|
NM_000137.4(FAH):c.1180+10G>A
|
rs758464032
|
0.00001
|
NM_000137.4(FAH):c.296A>G (p.Asp99Gly)
|
rs547847694
|
0.00001
|
NM_000138.5(FBN1):c.2979C>T (p.Cys993=)
|
rs150126098
|
0.00001
|
NM_000138.5(FBN1):c.3089A>G (p.Asn1030Ser)
|
rs375996640
|
0.00001
|
NM_000138.5(FBN1):c.3740A>T (p.Asn1247Ile)
|
rs568625812
|
0.00001
|
NM_000141.5(FGFR2):c.1239G>A (p.Pro413=)
|
rs147674677
|
0.00001
|
NM_000147.5(FUCA1):c.30G>C (p.Pro10=)
|
rs886046326
|
0.00001
|
NM_000151.4(G6PC1):c.1056G>A (p.Pro352=)
|
rs779263877
|
0.00001
|
NM_000151.4(G6PC1):c.231-12G>A
|
rs373908549
|
0.00001
|
NM_000151.4(G6PC1):c.879A>G (p.Pro293=)
|
rs529957748
|
0.00001
|
NM_000152.5(GAA):c.36C>T (p.Leu12=)
|
rs200548806
|
0.00001
|
NM_000152.5(GAA):c.630C>T (p.Ser210=)
|
rs775568949
|
0.00001
|
NM_000153.4(GALC):c.1443A>G (p.Pro481=)
|
rs1359281521
|
0.00001
|
NM_000153.4(GALC):c.2001A>C (p.Gly667=)
|
rs769902280
|
0.00001
|
NM_000153.4(GALC):c.450A>T (p.Pro150=)
|
rs886050866
|
0.00001
|
NM_000153.4(GALC):c.81C>T (p.Ala27=)
|
rs759433028
|
0.00001
|
NM_000154.2(GALK1):c.786G>A (p.Glu262=)
|
rs756263074
|
0.00001
|
NM_000155.4(GALT):c.378-7C>T
|
rs751084584
|
0.00001
|
NM_000155.4(GALT):c.843G>A (p.Lys281=)
|
rs368298966
|
0.00001
|
NM_000158.4(GBE1):c.1581G>A (p.Thr527=)
|
rs140571802
|
0.00001
|
NM_000158.4(GBE1):c.692-6A>G
|
rs757655010
|
0.00001
|
NM_000170.3(GLDC):c.1402-14T>G
|
rs376719104
|
0.00001
|
NM_000170.3(GLDC):c.1665+7A>T
|
rs759573888
|
0.00001
|
NM_000170.3(GLDC):c.1830G>A (p.Gln610=)
|
rs765268971
|
0.00001
|
NM_000170.3(GLDC):c.2145C>T (p.Asp715=)
|
rs769158507
|
0.00001
|
NM_000170.3(GLDC):c.2742A>T (p.Ala914=)
|
rs374022098
|
0.00001
|
NM_000170.3(GLDC):c.2925C>T (p.Phe975=)
|
rs1052505781
|
0.00001
|
NM_000170.3(GLDC):c.96G>T (p.Pro32=)
|
rs1430526811
|
0.00001
|
NM_000179.3(MSH6):c.1170T>C (p.Asp390=)
|
rs55882234
|
0.00001
|
NM_000181.4(GUSB):c.1050G>A (p.Lys350=)
|
rs121918182
|
0.00001
|
NM_000181.4(GUSB):c.1245-4G>A
|
rs548368848
|
0.00001
|
NM_000181.4(GUSB):c.210+11G>C
|
rs886062403
|
0.00001
|
NM_000181.4(GUSB):c.988G>T (p.Ala330Ser)
|
rs561880652
|
0.00001
|
NM_000186.4(CFH):c.2784C>A (p.Gly928=)
|
rs755926856
|
0.00001
|
NM_000187.4(HGD):c.307C>A (p.Pro103Thr)
|
rs559502955
|
0.00001
|
NM_000191.3(HMGCL):c.501C>T (p.Tyr167=)
|
rs200189529
|
0.00001
|
NM_000199.5(SGSH):c.681C>A (p.Pro227=)
|
rs2041774244
|
0.00001
|
NM_000199.5(SGSH):c.798A>G (p.Thr266=)
|
rs199562202
|
0.00001
|
NM_000199.5(SGSH):c.88+8C>T
|
rs75720127
|
0.00001
|
NM_000199.5(SGSH):c.942C>T (p.Ser314=)
|
rs759810426
|
0.00001
|
NM_000203.5(IDUA):c.249C>T (p.Arg83=)
|
rs765563471
|
0.00001
|
NM_000211.5(ITGB2):c.1688G>A (p.Arg563His)
|
rs550704811
|
0.00001
|
NM_000211.5(ITGB2):c.2247+10C>T
|
rs147248229
|
0.00001
|
NM_000211.5(ITGB2):c.328+14C>T
|
rs780089604
|
0.00001
|
NM_000211.5(ITGB2):c.432G>A (p.Arg144=)
|
rs886057119
|
0.00001
|
NM_000212.3(ITGB3):c.201G>A (p.Lys67=)
|
rs780479441
|
0.00001
|
NM_000214.3(JAG1):c.2817C>T (p.Ser939=)
|
rs1180418350
|
0.00001
|
NM_000214.3(JAG1):c.3297G>A (p.Pro1099=)
|
rs748849177
|
0.00001
|
NM_000214.3(JAG1):c.74G>A (p.Arg25Gln)
|
rs1265642949
|
0.00001
|
NM_000217.3(KCNA1):c.1086T>C (p.Ala362=)
|
rs1264032724
|
0.00001
|
NM_000222.3(KIT):c.2118T>G (p.Leu706=)
|
rs766840704
|
0.00001
|
NM_000222.3(KIT):c.2562C>G (p.Ser854=)
|
rs750039813
|
0.00001
|
NM_000222.3(KIT):c.2670C>T (p.Leu890=)
|
rs745967881
|
0.00001
|
NM_000235.4(LIPA):c.1026G>A (p.Gly342=)
|
rs550415126
|
0.00001
|
NM_000235.4(LIPA):c.318C>T (p.Phe106=)
|
rs1438679981
|
0.00001
|
NM_000243.3(MEFV):c.651G>C (p.Ala217=)
|
rs886051971
|
0.00001
|
NM_000243.3(MEFV):c.66G>A (p.Glu22=)
|
rs569040282
|
0.00001
|
NM_000243.3(MEFV):c.688G>A (p.Glu230Lys)
|
rs104895080
|
0.00001
|
NM_000243.3(MEFV):c.801A>G (p.Thr267=)
|
rs141455838
|
0.00001
|
NM_000246.4(CIITA):c.1635C>G (p.Leu545=)
|
rs748330320
|
0.00001
|
NM_000246.4(CIITA):c.2139G>A (p.Leu713=)
|
rs1319022837
|
0.00001
|
NM_000246.4(CIITA):c.2709G>A (p.Gly903=)
|
rs755515727
|
0.00001
|
NM_000246.4(CIITA):c.3149+11C>T
|
rs371453398
|
0.00001
|
NM_000249.4(MLH1):c.1541A>G (p.Asn514Ser)
|
rs772245091
|
0.00001
|
NM_000251.3(MSH2):c.1804C>G (p.Leu602Val)
|
rs748797209
|
0.00001
|
NM_000251.3(MSH2):c.972G>A (p.Gln324=)
|
rs63750505
|
0.00001
|
NM_000254.3(MTR):c.181A>C (p.Arg61=)
|
rs886046217
|
0.00001
|
NM_000254.3(MTR):c.34+10C>T
|
rs376679817
|
0.00001
|
NM_000257.4(MYH7):c.1749C>T (p.Ala583=)
|
rs758665829
|
0.00001
|
NM_000257.4(MYH7):c.2692C>T (p.Leu898=)
|
rs727504407
|
0.00001
|
NM_000257.4(MYH7):c.3934C>T (p.Leu1312=)
|
rs886050419
|
0.00001
|
NM_000260.4(MYO7A):c.2697G>A (p.Glu899=)
|
rs782531164
|
0.00001
|
NM_000260.4(MYO7A):c.759C>T (p.His253=)
|
rs182220009
|
0.00001
|
NM_000262.3(NAGA):c.12G>A (p.Lys4=)
|
rs776865602
|
0.00001
|
NM_000262.3(NAGA):c.549C>T (p.Ile183=)
|
rs374984089
|
0.00001
|
NM_000264.5(PTCH1):c.1653G>A (p.Thr551=)
|
rs766039170
|
0.00001
|
NM_000264.5(PTCH1):c.1712G>A (p.Arg571Gln)
|
rs377566861
|
0.00001
|
NM_000264.5(PTCH1):c.2176C>T (p.Pro726Ser)
|
rs758811078
|
0.00001
|
NM_000264.5(PTCH1):c.2460C>T (p.Tyr820=)
|
rs766227557
|
0.00001
|
NM_000264.5(PTCH1):c.777C>T (p.Phe259=)
|
rs750313305
|
0.00001
|
NM_000268.4(NF2):c.903C>T (p.Ile301=)
|
rs199957176
|
0.00001
|
NM_000271.5(NPC1):c.2304C>T (p.Val768=)
|
rs183935795
|
0.00001
|
NM_000271.5(NPC1):c.2373+14A>G
|
rs771523995
|
0.00001
|
NM_000271.5(NPC1):c.2514+7G>A
|
rs764548800
|
0.00001
|
NM_000271.5(NPC1):c.3312G>A (p.Val1104=)
|
rs746476066
|
0.00001
|
NM_000271.5(NPC1):c.699G>A (p.Glu233=)
|
rs769468514
|
0.00001
|
NM_000274.4(OAT):c.639C>T (p.Pro213=)
|
rs773314783
|
0.00001
|
NM_000277.3(PAH):c.786C>T (p.Val262=)
|
rs776860902
|
0.00001
|
NM_000282.4(PCCA):c.432A>G (p.Gly144=)
|
rs768756825
|
0.00001
|
NM_000282.4(PCCA):c.762C>T (p.Gly254=)
|
rs758211858
|
0.00001
|
NM_000288.4(PEX7):c.748-10T>C
|
rs886061122
|
0.00001
|
NM_000288.4(PEX7):c.843A>G (p.Thr281=)
|
rs767903764
|
0.00001
|
NM_000289.6(PFKM):c.1242C>G (p.Gly414=)
|
rs886049454
|
0.00001
|
NM_000289.6(PFKM):c.864A>G (p.Gly288=)
|
rs1313998695
|
0.00001
|
NM_000293.3(PHKB):c.1797+9G>A
|
rs746001808
|
0.00001
|
NM_000293.3(PHKB):c.2106C>T (p.Thr702=)
|
rs1248967430
|
0.00001
|
NM_000293.3(PHKB):c.2186A>C (p.Gln729Pro)
|
rs573384357
|
0.00001
|
NM_000293.3(PHKB):c.2196+14A>G
|
rs751084282
|
0.00001
|
NM_000294.3(PHKG2):c.95+11G>A
|
rs886051910
|
0.00001
|
NM_000295.5(SERPINA1):c.1104G>A (p.Gly368=)
|
rs1378794678
|
0.00001
|
NM_000295.5(SERPINA1):c.587T>C (p.Leu196Ser)
|
rs368433503
|
0.00001
|
NM_000302.4(PLOD1):c.1581C>T (p.Pro527=)
|
rs142934642
|
0.00001
|
NM_000302.4(PLOD1):c.2160C>T (p.Ile720=)
|
rs140513387
|
0.00001
|
NM_000302.4(PLOD1):c.742-9C>G
|
rs771746998
|
0.00001
|
NM_000302.4(PLOD1):c.948A>G (p.Lys316=)
|
rs746354303
|
0.00001
|
NM_000303.3(PMM2):c.126A>G (p.Gly42=)
|
rs766984518
|
0.00001
|
NM_000312.4(PROC):c.1326C>T (p.Leu442=)
|
rs748650244
|
0.00001
|
NM_000312.4(PROC):c.660G>A (p.Arg220=)
|
rs1688487502
|
0.00001
|
NM_000312.4(PROC):c.70+13C>G
|
rs200660332
|
0.00001
|
NM_000318.3(PEX2):c.524C>G (p.Ser175Cys)
|
rs770427885
|
0.00001
|
NM_000320.3(QDPR):c.147C>T (p.Ser49=)
|
rs758659025
|
0.00001
|
NM_000320.3(QDPR):c.444C>T (p.Ile148=)
|
rs754982401
|
0.00001
|
NM_000321.3(RB1):c.1667G>A (p.Arg556Gln)
|
rs773116120
|
0.00001
|
NM_000321.3(RB1):c.1696-4A>G
|
rs143685082
|
0.00001
|
NM_000321.3(RB1):c.2091C>G (p.Asp697Glu)
|
rs3092903
|
0.00001
|
NM_000321.3(RB1):c.2289A>T (p.Arg763Ser)
|
rs1167280920
|
0.00001
|
NM_000334.4(SCN4A):c.1575C>T (p.Ser525=)
|
rs376538198
|
0.00001
|
NM_000334.4(SCN4A):c.219G>A (p.Pro73=)
|
rs779890709
|
0.00001
|
NM_000334.4(SCN4A):c.4863C>T (p.Tyr1621=)
|
rs769625349
|
0.00001
|
NM_000334.4(SCN4A):c.5148G>A (p.Glu1716=)
|
rs1244264430
|
0.00001
|
NM_000334.4(SCN4A):c.5457C>T (p.Pro1819=)
|
rs761023866
|
0.00001
|
NM_000334.4(SCN4A):c.858G>A (p.Pro286=)
|
rs560230431
|
0.00001
|
NM_000335.5(SCN5A):c.2988C>T (p.Ala996=)
|
rs781529391
|
0.00001
|
NM_000335.5(SCN5A):c.687T>C (p.Thr229=)
|
rs770390440
|
0.00001
|
NM_000341.4(SLC3A1):c.1269C>T (p.Ser423=)
|
rs557669708
|
0.00001
|
NM_000343.4(SLC5A1):c.1314C>T (p.Ile438=)
|
rs1229387697
|
0.00001
|
NM_000343.4(SLC5A1):c.1716C>T (p.Asp572=)
|
rs1475148938
|
0.00001
|
NM_000343.4(SLC5A1):c.208-13T>A
|
rs200261297
|
0.00001
|
NM_000350.3(ABCA4):c.1099+12G>T
|
rs756258615
|
0.00001
|
NM_000350.3(ABCA4):c.1821G>A (p.Gly607=)
|
rs201059645
|
0.00001
|
NM_000350.3(ABCA4):c.3096A>G (p.Gly1032=)
|
rs778400379
|
0.00001
|
NM_000350.3(ABCA4):c.3576C>T (p.Val1192=)
|
rs187965758
|
0.00001
|
NM_000350.3(ABCA4):c.4329C>T (p.Arg1443=)
|
rs374344839
|
0.00001
|
NM_000350.3(ABCA4):c.4518C>T (p.Ala1506=)
|
rs146011912
|
0.00001
|
NM_000350.3(ABCA4):c.4573C>T (p.Leu1525=)
|
rs774957381
|
0.00001
|
NM_000350.3(ABCA4):c.4593C>T (p.Ser1531=)
|
rs746070443
|
0.00001
|
NM_000350.3(ABCA4):c.5593C>T (p.His1865Tyr)
|
rs201707267
|
0.00001
|
NM_000353.3(TAT):c.1042-12C>T
|
rs748571289
|
0.00001
|
NM_000353.3(TAT):c.1146T>C (p.His382=)
|
rs141534499
|
0.00001
|
NM_000353.3(TAT):c.1290G>A (p.Ala430=)
|
rs767563000
|
0.00001
|
NM_000355.4(TCN2):c.459C>T (p.Ser153=)
|
rs201344377
|
0.00001
|
NM_000360.4(TH):c.393C>T (p.Phe131=)
|
rs1239693053
|
0.00001
|
NM_000360.4(TH):c.648C>T (p.Gly216=)
|
rs774810612
|
0.00001
|
NM_000360.4(TH):c.675C>T (p.Thr225=)
|
rs1437906953
|
0.00001
|
NM_000360.4(TH):c.841+12C>T
|
rs368489295
|
0.00001
|
NM_000368.5(TSC1):c.168G>A (p.Pro56=)
|
rs781483110
|
0.00001
|
NM_000368.5(TSC1):c.1745C>T (p.Thr582Ile)
|
rs886063623
|
0.00001
|
NM_000368.5(TSC1):c.1882T>C (p.Leu628=)
|
rs375534013
|
0.00001
|
NM_000368.5(TSC1):c.2556G>C (p.Leu852=)
|
rs770381040
|
0.00001
|
NM_000368.5(TSC1):c.2994C>T (p.Asp998=)
|
rs923543734
|
0.00001
|
NM_000368.5(TSC1):c.598G>A (p.Val200Ile)
|
rs118203410
|
0.00001
|
NM_000368.5(TSC1):c.738-10C>A
|
rs768158324
|
0.00001
|
NM_000368.5(TSC1):c.819T>G (p.Asp273Glu)
|
rs148756522
|
0.00001
|
NM_000414.4(HSD17B4):c.1596T>C (p.His532=)
|
rs758045328
|
0.00001
|
NM_000417.3(IL2RA):c.252C>T (p.Ser84=)
|
rs1034684102
|
0.00001
|
NM_000419.5(ITGA2B):c.1389C>T (p.Tyr463=)
|
rs148618973
|
0.00001
|
NM_000426.4(LAMA2):c.4749C>T (p.Leu1583=)
|
rs754850670
|
0.00001
|
NM_000432.4(MYL2):c.275-12G>A
|
rs750937792
|
0.00001
|
NM_000436.4(OXCT1):c.956-15A>G
|
rs886060636
|
0.00001
|
NM_000441.2(SLC26A4):c.1050G>A (p.Leu350=)
|
rs727504993
|
0.00001
|
NM_000441.2(SLC26A4):c.678T>C (p.Ala226=)
|
rs773602319
|
0.00001
|
NM_000455.5(STK11):c.846C>G (p.Leu282=)
|
rs777872290
|
0.00001
|
NM_000465.4(BARD1):c.123C>A (p.Leu41=)
|
rs764410072
|
0.00001
|
NM_000465.4(BARD1):c.735A>G (p.Gln245=)
|
rs763378916
|
0.00001
|
NM_000466.3(PEX1):c.1671-13A>G
|
rs757960956
|
0.00001
|
NM_000466.3(PEX1):c.2927-8T>C
|
rs778618662
|
0.00001
|
NM_000466.3(PEX1):c.3195G>A (p.Ser1065=)
|
rs768417678
|
0.00001
|
NM_000466.3(PEX1):c.3543A>G (p.Ser1181=)
|
rs374673391
|
0.00001
|
NM_000466.3(PEX1):c.3642C>T (p.Asp1214=)
|
rs777384403
|
0.00001
|
NM_000481.4(AMT):c.153G>A (p.Ala51=)
|
rs768510463
|
0.00001
|
NM_000481.4(AMT):c.750C>T (p.Asn250=)
|
rs141324034
|
0.00001
|
NM_000481.4(AMT):c.84C>T (p.Cys28=)
|
rs763223038
|
0.00001
|
NM_000484.4(APP):c.1224+12T>C
|
rs200725014
|
0.00001
|
NM_000484.4(APP):c.618G>A (p.Ser206=)
|
rs201022619
|
0.00001
|
NM_000487.6(ARSA):c.1211-15T>C
|
rs374150980
|
0.00001
|
NM_000487.6(ARSA):c.663C>T (p.Phe221=)
|
rs754484249
|
0.00001
|
NM_000488.4(SERPINC1):c.408+4C>T
|
rs201551398
|
0.00001
|
NM_000492.4(CFTR):c.164+12T>C
|
rs121908790
|
0.00001
|
NM_000492.4(CFTR):c.2835G>A (p.Ser945=)
|
rs193922513
|
0.00001
|
NM_000492.4(CFTR):c.3759G>A (p.Leu1253=)
|
rs117400534
|
0.00001
|
NM_000492.4(CFTR):c.3969G>A (p.Gly1323=)
|
rs886061952
|
0.00001
|
NM_000501.4(ELN):c.1281C>T (p.Pro427=)
|
rs376496267
|
0.00001
|
NM_000501.4(ELN):c.163+13A>G
|
rs782388951
|
0.00001
|
NM_000512.5(GALNS):c.1003-10T>C
|
rs753249472
|
0.00001
|
NM_000512.5(GALNS):c.1008C>T (p.Ser336=)
|
rs886052456
|
0.00001
|
NM_000512.5(GALNS):c.993T>C (p.Thr331=)
|
rs762154863
|
0.00001
|
NM_000518.5(HBB):c.274C>T (p.Leu92=)
|
rs769583496
|
0.00001
|
NM_000521.4(HEXB):c.156G>A (p.Pro52=)
|
rs758965664
|
0.00001
|
NM_000525.4(KCNJ11):c.819C>T (p.Ser273=)
|
rs202238153
|
0.00001
|
NM_000527.5(LDLR):c.2391G>C (p.Val797=)
|
rs752846235
|
0.00001
|
NM_000527.5(LDLR):c.543G>A (p.Pro181=)
|
rs766577671
|
0.00001
|
NM_000528.4(MAN2B1):c.1026+8C>T
|
rs199908179
|
0.00001
|
NM_000528.4(MAN2B1):c.1713C>T (p.Pro571=)
|
rs747081586
|
0.00001
|
NM_000528.4(MAN2B1):c.2437-5C>G
|
rs200695002
|
0.00001
|
NM_000528.4(MAN2B1):c.2661G>A (p.Thr887=)
|
rs775212002
|
0.00001
|
NM_000528.4(MAN2B1):c.3006C>A (p.Ala1002=)
|
rs2023694204
|
0.00001
|
NM_000528.4(MAN2B1):c.597C>T (p.Gly199=)
|
rs200872797
|
0.00001
|
NM_000528.4(MAN2B1):c.855C>T (p.Pro285=)
|
rs139218045
|
0.00001
|
NM_000531.6(OTC):c.896C>T (p.Thr299Ile)
|
rs756772340
|
0.00001
|
NM_000532.5(PCCB):c.1199-8A>G
|
rs886058019
|
0.00001
|
NM_000532.5(PCCB):c.654+14G>T
|
rs1457950469
|
0.00001
|
NM_000536.4(RAG2):c.63G>A (p.Leu21=)
|
rs142797325
|
0.00001
|
NM_000538.4(RFXAP):c.15T>C (p.Gly5=)
|
rs772887500
|
0.00001
|
NM_000540.3(RYR1):c.10441-8T>C
|
rs755330618
|
0.00001
|
NM_000540.3(RYR1):c.11706A>G (p.Leu3902=)
|
rs776123178
|
0.00001
|
NM_000540.3(RYR1):c.1218C>T (p.Thr406=)
|
rs3745846
|
0.00001
|
NM_000540.3(RYR1):c.14129+10C>A
|
rs546280470
|
0.00001
|
NM_000540.3(RYR1):c.14706C>T (p.Ile4902=)
|
rs886054411
|
0.00001
|
NM_000540.3(RYR1):c.199G>A (p.Val67Ile)
|
rs761182247
|
0.00001
|
NM_000540.3(RYR1):c.255G>T (p.Val85=)
|
rs532101469
|
0.00001
|
NM_000540.3(RYR1):c.2646G>A (p.Ala882=)
|
rs375163703
|
0.00001
|
NM_000540.3(RYR1):c.2682+13C>T
|
rs745844424
|
0.00001
|
NM_000540.3(RYR1):c.2823G>A (p.Ala941=)
|
rs750305530
|
0.00001
|
NM_000540.3(RYR1):c.3981C>G (p.Pro1327=)
|
rs763082630
|
0.00001
|
NM_000540.3(RYR1):c.4056G>A (p.Ala1352=)
|
rs915321867
|
0.00001
|
NM_000540.3(RYR1):c.4488C>T (p.Gly1496=)
|
rs886038331
|
0.00001
|
NM_000540.3(RYR1):c.4533G>A (p.Thr1511=)
|
rs147901772
|
0.00001
|
NM_000540.3(RYR1):c.4650C>T (p.Ala1550=)
|
rs200600174
|
0.00001
|
NM_000540.3(RYR1):c.5548-9G>T
|
rs776320867
|
0.00001
|
NM_000540.3(RYR1):c.6407G>A (p.Arg2136His)
|
rs530885842
|
0.00001
|
NM_000540.3(RYR1):c.6549-8G>A
|
rs756593088
|
0.00001
|
NM_000540.3(RYR1):c.7422G>A (p.Leu2474=)
|
rs758872814
|
0.00001
|
NM_000540.3(RYR1):c.7842C>T (p.Ile2614=)
|
rs777420696
|
0.00001
|
NM_000540.3(RYR1):c.7857G>A (p.Leu2619=)
|
rs547048377
|
0.00001
|
NM_000540.3(RYR1):c.8082G>A (p.Glu2694=)
|
rs745619519
|
0.00001
|
NM_000540.3(RYR1):c.9001-8G>A
|
rs768611849
|
0.00001
|
NM_000540.3(RYR1):c.9096T>A (p.Ser3032=)
|
rs144067910
|
0.00001
|
NM_000540.3(RYR1):c.9685+8G>T
|
rs752615788
|
0.00001
|
NM_000540.3(RYR1):c.9732G>A (p.Pro3244=)
|
rs764290955
|
0.00001
|
NM_000546.6(TP53):c.145G>A (p.Asp49Asn)
|
rs587780728
|
0.00001
|
NM_000546.6(TP53):c.74+9A>C
|
rs1057517593
|
0.00001
|
NM_000546.6(TP53):c.96+15T>C
|
rs200053580
|
0.00001
|
NM_000553.6(WRN):c.2088+6C>T
|
rs886062888
|
0.00001
|
NM_000553.6(WRN):c.219A>G (p.Leu73=)
|
rs566693857
|
0.00001
|
NM_000553.6(WRN):c.2985C>T (p.Ala995=)
|
rs150095039
|
0.00001
|
NM_000553.6(WRN):c.3162T>C (p.Ala1054=)
|
rs111426441
|
0.00001
|
NM_000553.6(WRN):c.3483A>T (p.Val1161=)
|
rs1292940121
|
0.00001
|
NM_000639.3(FASLG):c.452-12G>A
|
rs759351686
|
0.00001
|
NM_000642.3(AGL):c.1284-12A>C
|
rs886044918
|
0.00001
|
NM_000642.3(AGL):c.318C>T (p.Tyr106=)
|
rs376885398
|
0.00001
|
NM_000642.3(AGL):c.4362T>C (p.Pro1454=)
|
rs886044922
|
0.00001
|
NM_000642.3(AGL):c.958+12A>G
|
rs1227779911
|
0.00001
|
NM_000687.4(AHCY):c.219+8C>T
|
rs768480898
|
0.00001
|
NM_000687.4(AHCY):c.936C>T (p.Asn312=)
|
rs528770765
|
0.00001
|
NM_000709.4(BCKDHA):c.435C>T (p.Ala145=)
|
rs369278165
|
0.00001
|
NM_000751.3(CHRND):c.932+9C>T
|
rs367837942
|
0.00001
|
NM_000781.3(CYP11A1):c.567G>A (p.Ala189=)
|
rs770022852
|
0.00001
|
NM_000787.4(DBH):c.921+8C>T
|
rs886063659
|
0.00001
|
NM_000824.5(GLRB):c.210G>A (p.Arg70=)
|
rs1440659826
|
0.00001
|
NM_000891.3(KCNJ2):c.303T>C (p.Cys101=)
|
rs376921497
|
0.00001
|
NM_000925.4(PDHB):c.1069T>C (p.Leu357=)
|
rs768436316
|
0.00001
|
NM_000925.4(PDHB):c.45C>G (p.Val15=)
|
rs747916943
|
0.00001
|
NM_001005242.3(PKP2):c.1236G>A (p.Gln412=)
|
rs779749104
|
0.00001
|
NM_001005242.3(PKP2):c.837C>T (p.Pro279=)
|
rs572938229
|
0.00001
|
NM_001005242.3(PKP2):c.921T>C (p.Ser307=)
|
rs941328238
|
0.00001
|
NM_001005361.3(DNM2):c.1782-6C>T
|
rs963604980
|
0.00001
|
NM_001005373.4(LRSAM1):c.972G>A (p.Leu324=)
|
rs940085400
|
0.00001
|
NM_001008216.2(GALE):c.192G>A (p.Glu64=)
|
rs748354696
|
0.00001
|
NM_001008216.2(GALE):c.238-6C>T
|
rs751079525
|
0.00001
|
NM_001008216.2(GALE):c.648G>A (p.Ala216=)
|
rs144723215
|
0.00001
|
NM_001032386.2(SUOX):c.279C>T (p.His93=)
|
rs763253683
|
0.00001
|
NM_001032386.2(SUOX):c.507C>T (p.Thr169=)
|
rs765012855
|
0.00001
|
NM_001035.3(RYR2):c.10008G>A (p.Glu3336=)
|
rs753175584
|
0.00001
|
NM_001035.3(RYR2):c.10200T>C (p.Ala3400=)
|
rs779316628
|
0.00001
|
NM_001035.3(RYR2):c.10551C>A (p.Gly3517=)
|
rs768797598
|
0.00001
|
NM_001035.3(RYR2):c.11146-6G>A
|
rs886046277
|
0.00001
|
NM_001035.3(RYR2):c.12315C>T (p.Leu4105=)
|
rs184625125
|
0.00001
|
NM_001035.3(RYR2):c.12627G>A (p.Ser4209=)
|
rs3753631
|
0.00001
|
NM_001035.3(RYR2):c.13220G>A (p.Ser4407Asn)
|
rs755585430
|
0.00001
|
NM_001035.3(RYR2):c.13410C>T (p.Tyr4470=)
|
rs183933829
|
0.00001
|
NM_001035.3(RYR2):c.13482T>C (p.Tyr4494=)
|
rs886046279
|
0.00001
|
NM_001035.3(RYR2):c.13665C>T (p.Ile4555=)
|
rs375213838
|
0.00001
|
NM_001035.3(RYR2):c.14085A>C (p.Ser4695=)
|
rs758566439
|
0.00001
|
NM_001035.3(RYR2):c.1444C>T (p.Leu482=)
|
rs117903753
|
0.00001
|
NM_001035.3(RYR2):c.14808+12A>C
|
rs886046281
|
0.00001
|
NM_001035.3(RYR2):c.2175T>C (p.Tyr725=)
|
rs758813812
|
0.00001
|
NM_001035.3(RYR2):c.2223A>G (p.Val741=)
|
rs117242563
|
0.00001
|
NM_001035.3(RYR2):c.2808G>A (p.Ser936=)
|
rs1057521205
|
0.00001
|
NM_001035.3(RYR2):c.3067-14G>C
|
rs757471501
|
0.00001
|
NM_001035.3(RYR2):c.3105C>T (p.Tyr1035=)
|
rs747358776
|
0.00001
|
NM_001035.3(RYR2):c.3729A>C (p.Thr1243=)
|
rs536080941
|
0.00001
|
NM_001035.3(RYR2):c.5763G>A (p.Arg1921=)
|
rs886046270
|
0.00001
|
NM_001035.3(RYR2):c.6688+13C>A
|
rs1262322008
|
0.00001
|
NM_001035.3(RYR2):c.9927A>G (p.Lys3309=)
|
rs184937795
|
0.00001
|
NM_001035.3(RYR2):c.9995C>T (p.Thr3332Met)
|
rs774437805
|
0.00001
|
NM_001037.5(SCN1B):c.150C>T (p.Asn50=)
|
rs147073518
|
0.00001
|
NM_001038603.3(MARVELD2):c.1059A>G (p.Ile353Met)
|
rs727503158
|
0.00001
|
NM_001040108.2(MLH3):c.1125T>C (p.Asp375=)
|
rs781394261
|
0.00001
|
NM_001040108.2(MLH3):c.3384T>C (p.Thr1128=)
|
rs370951929
|
0.00001
|
NM_001040436.3(YARS2):c.*230A>G
|
rs371690622
|
0.00001
|
NM_001040436.3(YARS2):c.234T>C (p.Cys78=)
|
rs565102282
|
0.00001
|
NM_001040716.2(PC):c.3148-14C>T
|
rs773784306
|
0.00001
|
NM_001040716.2(PC):c.78C>A (p.Ser26=)
|
rs1161512784
|
0.00001
|
NM_001040716.2(PC):c.927C>T (p.Thr309=)
|
rs373717650
|
0.00001
|
NM_001042492.3(NF1):c.3303G>A (p.Gln1101=)
|
rs876659944
|
0.00001
|
NM_001042492.3(NF1):c.3891A>G (p.Leu1297=)
|
rs753036396
|
0.00001
|
NM_001042492.3(NF1):c.5160G>T (p.Glu1720Asp)
|
rs773378630
|
0.00001
|
NM_001042492.3(NF1):c.6006+4T>C
|
rs754909198
|
0.00001
|
NM_001042492.3(NF1):c.681T>C (p.Tyr227=)
|
rs745804540
|
0.00001
|
NM_001042492.3(NF1):c.7110C>T (p.His2370=)
|
rs201881479
|
0.00001
|
NM_001042492.3(NF1):c.7616-15A>C
|
rs952554990
|
0.00001
|
NM_001044385.3(TMEM237):c.807G>A (p.Ala269=)
|
rs763452347
|
0.00001
|
NM_001048174.2(MUTYH):c.305-7C>A
|
rs863224698
|
0.00001
|
NM_001065.4(TNFRSF1A):c.1058-8C>G
|
rs764636915
|
0.00001
|
NM_001065.4(TNFRSF1A):c.269C>T (p.Thr90Ile)
|
rs34751757
|
0.00001
|
NM_001065.4(TNFRSF1A):c.753G>A (p.Ser251=)
|
rs201358363
|
0.00001
|
NM_001079866.2(BCS1L):c.258T>C (p.His86=)
|
rs886055627
|
0.00001
|
NM_001079866.2(BCS1L):c.768C>G (p.Leu256=)
|
rs781666793
|
0.00001
|
NM_001082971.2(DDC):c.564C>T (p.Ser188=)
|
rs371336321
|
0.00001
|
NM_001100.4(ACTA1):c.888T>C (p.Tyr296=)
|
rs770931836
|
0.00001
|
NM_001101362.3(KBTBD13):c.252C>T (p.Cys84=)
|
rs886051334
|
0.00001
|
NM_001113378.2(FANCI):c.1311A>G (p.Arg437=)
|
rs772846275
|
0.00001
|
NM_001113525.2(ZNF276):c.*1220G>A
|
rs1445940471
|
0.00001
|
NM_001114753.3(ENG):c.111C>T (p.Pro37=)
|
rs755626994
|
0.00001
|
NM_001114753.3(ENG):c.1273-5C>T
|
rs779103881
|
0.00001
|
NM_001122659.3(EDNRB):c.1194+15C>T
|
rs886050325
|
0.00001
|
NM_001122659.3(EDNRB):c.483+15C>T
|
rs936183003
|
0.00001
|
NM_001126108.2(SLC12A3):c.1545C>T (p.Ile515=)
|
rs764801122
|
0.00001
|
NM_001126108.2(SLC12A3):c.2244G>A (p.Ser748=)
|
rs150633177
|
0.00001
|
NM_001127671.2(LIFR):c.3060G>A (p.Glu1020=)
|
rs537706381
|
0.00001
|
NM_001127671.2(LIFR):c.819T>C (p.Ser273=)
|
rs756161883
|
0.00001
|
NM_001130823.3(DNMT1):c.3117-8G>A
|
rs769623856
|
0.00001
|
NM_001130823.3(DNMT1):c.3537G>A (p.Thr1179=)
|
rs761140414
|
0.00001
|
NM_001130823.3(DNMT1):c.4164C>T (p.Ser1388=)
|
rs779701784
|
0.00001
|
NM_001130823.3(DNMT1):c.720A>G (p.Arg240=)
|
rs760733624
|
0.00001
|
NM_001130987.2(DYSF):c.1276+13C>T
|
rs373530549
|
0.00001
|
NM_001130987.2(DYSF):c.1493+13T>C
|
rs886056279
|
0.00001
|
NM_001130987.2(DYSF):c.1577-1639G>C
|
rs767550929
|
0.00001
|
NM_001130987.2(DYSF):c.1807-13T>C
|
rs756387775
|
0.00001
|
NM_001130987.2(DYSF):c.1926C>T (p.Phe642=)
|
rs550180529
|
0.00001
|
NM_001130987.2(DYSF):c.2400G>A (p.Leu800=)
|
rs757613811
|
0.00001
|
NM_001130987.2(DYSF):c.3161C>T (p.Thr1054Ile)
|
rs770883682
|
0.00001
|
NM_001130987.2(DYSF):c.4341G>A (p.Leu1447=)
|
rs144072850
|
0.00001
|
NM_001130987.2(DYSF):c.4356G>A (p.Ser1452=)
|
rs368451006
|
0.00001
|
NM_001130987.2(DYSF):c.554-8C>T
|
rs1257627361
|
0.00001
|
NM_001130987.2(DYSF):c.5614G>A (p.Glu1872Lys)
|
rs201592500
|
0.00001
|
NM_001134363.3(RBM20):c.1139G>A (p.Arg380Gln)
|
rs777080028
|
0.00001
|
NM_001134363.3(RBM20):c.1338-4C>G
|
rs753677364
|
0.00001
|
NM_001134363.3(RBM20):c.2174A>C (p.Glu725Ala)
|
rs967504449
|
0.00001
|
NM_001134363.3(RBM20):c.2464C>A (p.Gln822Lys)
|
rs377259044
|
0.00001
|
NM_001134363.3(RBM20):c.3317-10T>C
|
rs772243422
|
0.00001
|
NM_001134363.3(RBM20):c.3609G>A (p.Lys1203=)
|
rs892459274
|
0.00001
|
NM_001134363.3(RBM20):c.717A>T (p.Thr239=)
|
rs886046700
|
0.00001
|
NM_001134407.3(GRIN2A):c.3636G>A (p.Thr1212=)
|
rs765614514
|
0.00001
|
NM_001134407.3(GRIN2A):c.3809A>T (p.Asp1270Val)
|
rs750649530
|
0.00001
|
NM_001134407.3(GRIN2A):c.687C>T (p.Leu229=)
|
rs372649219
|
0.00001
|
NM_001134407.3(GRIN2A):c.843C>T (p.Tyr281=)
|
rs554338361
|
0.00001
|
NM_001134407.3(GRIN2A):c.979C>G (p.Pro327Ala)
|
rs771168389
|
0.00001
|
NM_001142800.2(EYS):c.6025A>G (p.Lys2009Glu)
|
rs559078881
|
0.00001
|
NM_001160372.4(TRAPPC9):c.1560C>T (p.Pro520=)
|
rs886062724
|
0.00001
|
NM_001161352.2(KCNMA1):c.1209G>A (p.Ala403=)
|
rs199572145
|
0.00001
|
NM_001161352.2(KCNMA1):c.1860-4G>T
|
rs763267420
|
0.00001
|
NM_001161352.2(KCNMA1):c.2511C>T (p.Val837=)
|
rs200166976
|
0.00001
|
NM_001161352.2(KCNMA1):c.3333G>A (p.Ala1111=)
|
rs200045097
|
0.00001
|
NM_001161352.2(KCNMA1):c.3588G>A (p.Ser1196=)
|
rs75138661
|
0.00001
|
NM_001161352.2(KCNMA1):c.3654G>A (p.Arg1218=)
|
rs1445232499
|
0.00001
|
NM_001161352.2(KCNMA1):c.602+12A>G
|
rs199818612
|
0.00001
|
NM_001164508.2(NEB):c.11165G>A (p.Arg3722Gln)
|
rs757027644
|
0.00001
|
NM_001164508.2(NEB):c.1227C>T (p.Leu409=)
|
rs371658494
|
0.00001
|
NM_001164508.2(NEB):c.16750A>G (p.Met5584Val)
|
rs761807814
|
0.00001
|
NM_001164508.2(NEB):c.1698G>A (p.Glu566=)
|
rs1242070276
|
0.00001
|
NM_001164508.2(NEB):c.17645G>A (p.Arg5882Gln)
|
rs558345996
|
0.00001
|
NM_001164508.2(NEB):c.185C>T (p.Ser62Leu)
|
rs764417105
|
0.00001
|
NM_001164508.2(NEB):c.18613G>A (p.Gly6205Ser)
|
rs1292580496
|
0.00001
|
NM_001164508.2(NEB):c.19597G>A (p.Val6533Ile)
|
rs368484176
|
0.00001
|
NM_001164508.2(NEB):c.19894A>G (p.Lys6632Glu)
|
rs765189771
|
0.00001
|
NM_001164508.2(NEB):c.20155G>A (p.Glu6719Lys)
|
rs767886794
|
0.00001
|
NM_001164508.2(NEB):c.20218C>A (p.Pro6740Thr)
|
rs199722285
|
0.00001
|
NM_001164508.2(NEB):c.20290A>G (p.Met6764Val)
|
rs372042301
|
0.00001
|
NM_001164508.2(NEB):c.2099A>G (p.Asn700Ser)
|
rs770240346
|
0.00001
|
NM_001164508.2(NEB):c.22272+7T>C
|
rs762551492
|
0.00001
|
NM_001164508.2(NEB):c.22801-7T>C
|
rs368298970
|
0.00001
|
NM_001164508.2(NEB):c.22986T>C (p.His7662=)
|
rs149606244
|
0.00001
|
NM_001164508.2(NEB):c.24743G>A (p.Arg8248His)
|
rs781388562
|
0.00001
|
NM_001164508.2(NEB):c.25107A>G (p.Pro8369=)
|
rs763433145
|
0.00001
|
NM_001164508.2(NEB):c.25219G>A (p.Glu8407Lys)
|
rs766943894
|
0.00001
|
NM_001164508.2(NEB):c.4413G>A (p.Lys1471=)
|
rs755877926
|
0.00001
|
NM_001164508.2(NEB):c.5853C>A (p.Ala1951=)
|
rs757546480
|
0.00001
|
NM_001164508.2(NEB):c.6020T>C (p.Met2007Thr)
|
rs199862790
|
0.00001
|
NM_001164508.2(NEB):c.7228-5C>T
|
rs773213959
|
0.00001
|
NM_001166114.2(PNPLA6):c.1212T>C (p.Pro404=)
|
rs748049105
|
0.00001
|
NM_001166114.2(PNPLA6):c.131C>T (p.Pro44Leu)
|
rs372169542
|
0.00001
|
NM_001166114.2(PNPLA6):c.2277G>A (p.Val759=)
|
rs1030480370
|
0.00001
|
NM_001166114.2(PNPLA6):c.2402-11C>A
|
rs756209420
|
0.00001
|
NM_001166114.2(PNPLA6):c.2958A>G (p.Val986=)
|
rs752794292
|
0.00001
|
NM_001166114.2(PNPLA6):c.3339G>A (p.Leu1113=)
|
rs770303471
|
0.00001
|
NM_001166114.2(PNPLA6):c.621G>A (p.Leu207=)
|
rs200521839
|
0.00001
|
NM_001166114.2(PNPLA6):c.684C>T (p.Asp228=)
|
rs375424103
|
0.00001
|
NM_001182.5(ALDH7A1):c.1008+11C>T
|
rs367574304
|
0.00001
|
NM_001182.5(ALDH7A1):c.1415+15A>G
|
rs370757950
|
0.00001
|
NM_001182.5(ALDH7A1):c.222C>T (p.Asn74=)
|
rs1007871645
|
0.00001
|
NM_001199397.3(NEK1):c.3075C>T (p.Asn1025=)
|
rs886059227
|
0.00001
|
NM_001199397.3(NEK1):c.3405A>G (p.Gln1135=)
|
rs774338352
|
0.00001
|
NM_001242957.3(MAK):c.968C>G (p.Pro323Arg)
|
rs200641218
|
0.00001
|
NM_001243177.4(ALDOA):c.1134G>A (p.Ala378=)
|
rs530089317
|
0.00001
|
NM_001244710.2(GFPT1):c.1010-10A>G
|
rs753072061
|
0.00001
|
NM_001244710.2(GFPT1):c.2001C>T (p.Ser667=)
|
rs765856240
|
0.00001
|
NM_001256545.2(MEGF10):c.1008C>T (p.Ser336=)
|
rs145815113
|
0.00001
|
NM_001256545.2(MEGF10):c.1215C>T (p.Tyr405=)
|
rs781762135
|
0.00001
|
NM_001256545.2(MEGF10):c.789G>A (p.Val263=)
|
rs1188804374
|
0.00001
|
NM_001256545.2(MEGF10):c.951C>T (p.Gly317=)
|
rs145870973
|
0.00001
|
NM_001267550.2(TTN):c.40408+7_40408+10dup
|
rs397517560
|
0.00001
|
NM_001277115.2(DNAH11):c.11546G>T (p.Gly3849Val)
|
rs145735492
|
0.00001
|
NM_001277115.2(DNAH11):c.13035T>C (p.Tyr4345=)
|
rs545264816
|
0.00001
|
NM_001277115.2(DNAH11):c.1995C>T (p.His665=)
|
rs752831166
|
0.00001
|
NM_001277115.2(DNAH11):c.4713T>C (p.Asp1571=)
|
rs72657324
|
0.00001
|
NM_001277115.2(DNAH11):c.891A>G (p.Ala297=)
|
rs201934527
|
0.00001
|
NM_001277115.2(DNAH11):c.982+12G>A
|
rs546259810
|
0.00001
|
NM_001330078.2(NRXN1):c.1760-13C>G
|
rs886056171
|
0.00001
|
NM_001330078.2(NRXN1):c.2698A>C (p.Arg900=)
|
rs574531814
|
0.00001
|
NM_001330078.2(NRXN1):c.3012G>A (p.Lys1004=)
|
rs201118246
|
0.00001
|
NM_001330078.2(NRXN1):c.3237A>G (p.Gly1079=)
|
rs886056170
|
0.00001
|
NM_001352514.2(HLCS):c.609C>T (p.Asp203=)
|
rs370118884
|
0.00001
|
NM_001352514.2(HLCS):c.723C>A (p.Gly241=)
|
rs886057077
|
0.00001
|
NM_001352514.2(HLCS):c.840C>T (p.Tyr280=)
|
rs779907293
|
0.00001
|
NM_001355436.2(SPTB):c.5319C>T (p.Asp1773=)
|
rs767020547
|
0.00001
|
NM_001355436.2(SPTB):c.6324G>A (p.Ala2108=)
|
rs756164746
|
0.00001
|
NM_001358530.2(MOCS1):c.1788T>G (p.Ser596=)
|
rs200764011
|
0.00001
|
NM_001358530.2(MOCS1):c.426C>T (p.Leu142=)
|
rs375882259
|
0.00001
|
NM_001360.3(DHCR7):c.226G>A (p.Val76Ile)
|
rs368473756
|
0.00001
|
NM_001360.3(DHCR7):c.322-7G>A
|
rs1359774813
|
0.00001
|
NM_001365088.1(SLC12A6):c.1707A>G (p.Pro569=)
|
rs764272139
|
0.00001
|
NM_001365088.1(SLC12A6):c.964G>A (p.Gly322Ser)
|
rs75235010
|
0.00001
|
NM_001365536.1(SCN9A):c.*669A>G
|
rs538508619
|
0.00001
|
NM_001365536.1(SCN9A):c.1347T>C (p.Ser449=)
|
rs201990547
|
0.00001
|
NM_001365536.1(SCN9A):c.1482G>T (p.Lys494Asn)
|
rs777699798
|
0.00001
|
NM_001365536.1(SCN9A):c.1713C>T (p.Ala571=)
|
rs200876333
|
0.00001
|
NM_001365951.3(KIF1B):c.1038-5del
|
rs886044976
|
0.00001
|
NM_001367721.1(CASK):c.2155+4G>A
|
rs749155089
|
0.00001
|
NM_001369369.1(FOXN1):c.1554C>T (p.Thr518=)
|
rs146694795
|
0.00001
|
NM_001369369.1(FOXN1):c.42G>A (p.Pro14=)
|
rs553583507
|
0.00001
|
NM_001369369.1(FOXN1):c.589-12C>A
|
rs185748978
|
0.00001
|
NM_001370259.2(MEN1):c.570G>A (p.Gly190=)
|
rs547249181
|
0.00001
|
NM_001371596.2(MFSD8):c.288A>G (p.Leu96=)
|
rs1008821019
|
0.00001
|
NM_001371596.2(MFSD8):c.421T>C (p.Leu141=)
|
rs778330834
|
0.00001
|
NM_001372051.1(CASP8):c.1038T>C (p.Pro346=)
|
rs768360449
|
0.00001
|
NM_001375808.2(LPIN2):c.1404C>T (p.Asp468=)
|
rs376147435
|
0.00001
|
NM_001375808.2(LPIN2):c.54C>A (p.Leu18=)
|
rs753729438
|
0.00001
|
NM_001375808.2(LPIN2):c.590+8T>G
|
rs760846327
|
0.00001
|
NM_001375808.2(LPIN2):c.756G>A (p.Ala252=)
|
rs570485374
|
0.00001
|
NM_001376.5(DYNC1H1):c.12705G>A (p.Pro4235=)
|
rs199792795
|
0.00001
|
NM_001376.5(DYNC1H1):c.13719C>T (p.Asn4573=)
|
rs886050377
|
0.00001
|
NM_001376.5(DYNC1H1):c.249G>C (p.Thr83=)
|
rs1024563256
|
0.00001
|
NM_001376.5(DYNC1H1):c.2719-15T>C
|
rs748772899
|
0.00001
|
NM_001376.5(DYNC1H1):c.366T>C (p.Thr122=)
|
rs527943422
|
0.00001
|
NM_001376.5(DYNC1H1):c.390C>T (p.Pro130=)
|
rs2273439
|
0.00001
|
NM_001376.5(DYNC1H1):c.4959C>T (p.His1653=)
|
rs773425996
|
0.00001
|
NM_001376.5(DYNC1H1):c.5427A>G (p.Glu1809=)
|
rs2048183675
|
0.00001
|
NM_001376.5(DYNC1H1):c.579C>T (p.Leu193=)
|
rs1184080545
|
0.00001
|
NM_001376.5(DYNC1H1):c.9210G>A (p.Pro3070=)
|
rs201817995
|
0.00001
|
NM_001377.3(DYNC2H1):c.1000-7A>G
|
rs745325616
|
0.00001
|
NM_001377.3(DYNC2H1):c.10848T>G (p.Ser3616=)
|
rs199958495
|
0.00001
|
NM_001377.3(DYNC2H1):c.4611+14C>T
|
rs766124250
|
0.00001
|
NM_001377.3(DYNC2H1):c.5472T>C (p.Leu1824=)
|
rs886047564
|
0.00001
|
NM_001377.3(DYNC2H1):c.7782A>G (p.Pro2594=)
|
rs886047566
|
0.00001
|
NM_001377265.1(MAPT):c.2173+9G>C
|
rs979650971
|
0.00001
|
NM_001377265.1(MAPT):c.220+2538C>G
|
rs368845248
|
0.00001
|
NM_001378120.1(MBD5):c.1111C>G (p.Gln371Glu)
|
rs536900412
|
0.00001
|
NM_001378615.1(CC2D2A):c.4675-14T>A
|
rs766203266
|
0.00001
|
NM_001378615.1(CC2D2A):c.541-5G>A
|
rs369022150
|
0.00001
|
NM_001379610.1(SPINK1):c.38C>T (p.Ala13Val)
|
rs770387107
|
0.00001
|
NM_001386393.1(PANK2):c.-10G>A
|
rs771710781
|
0.00001
|
NM_001386393.1(PANK2):c.258C>G (p.Val86=)
|
rs746054643
|
0.00001
|
NM_001386393.1(PANK2):c.298+10C>T
|
rs755815669
|
0.00001
|
NM_001386393.1(PANK2):c.54G>C (p.Arg18=)
|
rs930563925
|
0.00001
|
NM_001395413.1(POR):c.1152C>T (p.Asn384=)
|
rs1554558784
|
0.00001
|
NM_001395413.1(POR):c.1706C>T (p.Ser569Leu)
|
rs370645073
|
0.00001
|
NM_001395413.1(POR):c.821+15C>T
|
rs540000393
|
0.00001
|
NM_001457.4(FLNB):c.1148-8T>G
|
rs376416099
|
0.00001
|
NM_001457.4(FLNB):c.1384C>T (p.Leu462=)
|
rs139725835
|
0.00001
|
NM_001457.4(FLNB):c.2136G>A (p.Lys712=)
|
rs777288340
|
0.00001
|
NM_001457.4(FLNB):c.2187C>T (p.His729=)
|
rs751586969
|
0.00001
|
NM_001457.4(FLNB):c.2297C>T (p.Thr766Met)
|
rs758045039
|
0.00001
|
NM_001457.4(FLNB):c.2643C>T (p.Asn881=)
|
rs774413686
|
0.00001
|
NM_001457.4(FLNB):c.4766T>A (p.Met1589Lys)
|
rs780225340
|
0.00001
|
NM_001457.4(FLNB):c.5729-4C>T
|
rs116142791
|
0.00001
|
NM_001457.4(FLNB):c.5916C>T (p.Gly1972=)
|
rs112942586
|
0.00001
|
NM_001457.4(FLNB):c.6226G>A (p.Ala2076Thr)
|
rs141559684
|
0.00001
|
NM_001457.4(FLNB):c.6237C>T (p.His2079=)
|
rs767109451
|
0.00001
|
NM_001457.4(FLNB):c.7176G>A (p.Thr2392=)
|
rs770144367
|
0.00001
|
NM_001457.4(FLNB):c.852C>T (p.Ala284=)
|
rs765017696
|
0.00001
|
NM_001457.4(FLNB):c.9A>G (p.Val3=)
|
rs199846967
|
0.00001
|
NM_001558.4(IL10RA):c.1323G>A (p.Val441=)
|
rs746663189
|
0.00001
|
NM_001609.4(ACADSB):c.219G>A (p.Gln73=)
|
rs756256851
|
0.00001
|
NM_001609.4(ACADSB):c.681+14C>T
|
rs748185849
|
0.00001
|
NM_001613.4(ACTA2):c.808+14G>A
|
rs774120023
|
0.00001
|
NM_001698.3(AUH):c.894+9C>A
|
rs1388023086
|
0.00001
|
NM_001754.5(RUNX1):c.981G>C (p.Leu327=)
|
rs376269814
|
0.00001
|
NM_001844.5(COL2A1):c.1938T>C (p.Pro646=)
|
rs368641858
|
0.00001
|
NM_001844.5(COL2A1):c.2286G>A (p.Gly762=)
|
rs371835359
|
0.00001
|
NM_001844.5(COL2A1):c.2410-11C>T
|
rs886049447
|
0.00001
|
NM_001844.5(COL2A1):c.2805C>T (p.Ser935=)
|
rs948633441
|
0.00001
|
NM_001844.5(COL2A1):c.2909C>T (p.Pro970Leu)
|
rs371268468
|
0.00001
|
NM_001844.5(COL2A1):c.711T>A (p.Gly237=)
|
rs764487245
|
0.00001
|
NM_001844.5(COL2A1):c.778C>T (p.Pro260Ser)
|
rs1470645150
|
0.00001
|
NM_001845.6(COL4A1):c.4271C>T (p.Pro1424Leu)
|
rs760889798
|
0.00001
|
NM_001875.5(CPS1):c.2454A>G (p.Pro818=)
|
rs765712117
|
0.00001
|
NM_001875.5(CPS1):c.3174C>T (p.Gly1058=)
|
rs369030433
|
0.00001
|
NM_001875.5(CPS1):c.3286T>C (p.Leu1096=)
|
rs749825961
|
0.00001
|
NM_001875.5(CPS1):c.3558+7G>A
|
rs764456030
|
0.00001
|
NM_001875.5(CPS1):c.3683G>A (p.Arg1228Gln)
|
rs778117194
|
0.00001
|
NM_001887.4(CRYBB1):c.384G>A (p.Ser128=)
|
rs370514627
|
0.00001
|
NM_001918.5(DBT):c.198G>A (p.Gln66=)
|
rs201714436
|
0.00001
|
NM_001943.5(DSG2):c.1479C>T (p.Asn493=)
|
rs778100657
|
0.00001
|
NM_001943.5(DSG2):c.1758T>C (p.Leu586=)
|
rs773812422
|
0.00001
|
NM_001943.5(DSG2):c.2335-9T>C
|
rs757355636
|
0.00001
|
NM_001943.5(DSG2):c.269C>T (p.Thr90Ile)
|
rs772744115
|
0.00001
|
NM_001943.5(DSG2):c.447T>C (p.Val149=)
|
rs1389484271
|
0.00001
|
NM_001943.5(DSG2):c.990C>T (p.Asn330=)
|
rs140575919
|
0.00001
|
NM_001999.4(FBN2):c.1143G>T (p.Gly381=)
|
rs749428195
|
0.00001
|
NM_001999.4(FBN2):c.2099C>T (p.Thr700Ile)
|
rs773667668
|
0.00001
|
NM_001999.4(FBN2):c.3277A>G (p.Ile1093Val)
|
rs747248488
|
0.00001
|
NM_001999.4(FBN2):c.4608T>C (p.Cys1536=)
|
rs1176811808
|
0.00001
|
NM_001999.4(FBN2):c.5587C>T (p.Arg1863Trp)
|
rs1192632165
|
0.00001
|
NM_001999.4(FBN2):c.6033C>G (p.Gly2011=)
|
rs749647897
|
0.00001
|
NM_001999.4(FBN2):c.6438C>T (p.Asp2146=)
|
rs772832233
|
0.00001
|
NM_001999.4(FBN2):c.680G>A (p.Gly227Glu)
|
rs760247833
|
0.00001
|
NM_002076.4(GNS):c.1104G>T (p.Leu368=)
|
rs766168524
|
0.00001
|
NM_002103.5(GYS1):c.1242C>T (p.Pro414=)
|
rs751382433
|
0.00001
|
NM_002103.5(GYS1):c.216C>T (p.Gly72=)
|
rs773065230
|
0.00001
|
NM_002187.3(IL12B):c.105G>A (p.Leu35=)
|
rs1562113724
|
0.00001
|
NM_002187.3(IL12B):c.822C>T (p.Cys274=)
|
rs764163895
|
0.00001
|
NM_002225.5(IVD):c.150T>A (p.Arg50=)
|
rs762440985
|
0.00001
|
NM_002234.4(KCNA5):c.1210C>T (p.Leu404=)
|
rs886049576
|
0.00001
|
NM_002234.4(KCNA5):c.1701G>A (p.Gly567=)
|
rs771735295
|
0.00001
|
NM_002241.5(KCNJ10):c.21G>A (p.Val7=)
|
rs750227861
|
0.00001
|
NM_002292.4(LAMB2):c.2720+13C>A
|
rs369359244
|
0.00001
|
NM_002303.6(LEPR):c.921G>C (p.Gln307His)
|
rs531183918
|
0.00001
|
NM_002386.4(MC1R):c.66C>T (p.Pro22=)
|
rs773395822
|
0.00001
|
NM_002435.3(MPI):c.145-11T>C
|
rs768029221
|
0.00001
|
NM_002474.3(MYH11):c.1356T>A (p.Ala452=)
|
rs778073237
|
0.00001
|
NM_002474.3(MYH11):c.1576-4A>G
|
rs189193825
|
0.00001
|
NM_002474.3(MYH11):c.2997+10G>T
|
rs886051760
|
0.00001
|
NM_002474.3(MYH11):c.3831G>A (p.Glu1277=)
|
rs752821481
|
0.00001
|
NM_002474.3(MYH11):c.3910A>C (p.Ile1304Leu)
|
rs200737737
|
0.00001
|
NM_002474.3(MYH11):c.4074C>T (p.Ala1358=)
|
rs370519992
|
0.00001
|
NM_002474.3(MYH11):c.465C>T (p.Tyr155=)
|
rs145810355
|
0.00001
|
NM_002474.3(MYH11):c.4660G>A (p.Glu1554Lys)
|
rs372598970
|
0.00001
|
NM_002474.3(MYH11):c.4899C>T (p.Ala1633=)
|
rs760584464
|
0.00001
|
NM_002474.3(MYH11):c.540T>C (p.Ser180=)
|
rs182700462
|
0.00001
|
NM_002474.3(MYH11):c.720A>T (p.Ser240=)
|
rs143160789
|
0.00001
|
NM_002485.5(NBN):c.1383G>A (p.Pro461=)
|
rs886063169
|
0.00001
|
NM_002485.5(NBN):c.567G>A (p.Gln189=)
|
rs1203807404
|
0.00001
|
NM_002506.3(NGF):c.174G>A (p.Ala58=)
|
rs147326889
|
0.00001
|
NM_002506.3(NGF):c.93C>G (p.Thr31=)
|
rs1014644520
|
0.00001
|
NM_002529.4(NTRK1):c.1005G>A (p.Pro335=)
|
rs780334454
|
0.00001
|
NM_002529.4(NTRK1):c.1196-11T>C
|
rs1024148691
|
0.00001
|
NM_002529.4(NTRK1):c.1646C>T (p.Ala549Val)
|
rs763247367
|
0.00001
|
NM_002529.4(NTRK1):c.326A>G (p.Asp109Gly)
|
rs141592864
|
0.00001
|
NM_002617.4(PEX10):c.112+11G>T
|
rs1322541651
|
0.00001
|
NM_002617.4(PEX10):c.194-5C>T
|
rs375032738
|
0.00001
|
NM_002618.4(PEX13):c.1158G>A (p.Lys386=)
|
rs371789976
|
0.00001
|
NM_002633.3(PGM1):c.327T>C (p.Ile109=)
|
rs770271653
|
0.00001
|
NM_002637.4(PHKA1):c.1698C>A (p.Ile566=)
|
rs369728544
|
0.00001
|
NM_002693.3(POLG):c.1599C>G (p.Cys533Trp)
|
rs754246294
|
0.00001
|
NM_002693.3(POLG):c.1887C>T (p.Asp629=)
|
rs886051524
|
0.00001
|
NM_002693.3(POLG):c.1898A>C (p.Lys633Thr)
|
rs568913937
|
0.00001
|
NM_002693.3(POLG):c.2040G>A (p.Leu680=)
|
rs367740265
|
0.00001
|
NM_002700.3(POU4F3):c.798A>G (p.Pro266=)
|
rs572492254
|
0.00001
|
NM_002734.5(PRKAR1A):c.-11C>T
|
rs1021510770
|
0.00001
|
NM_002734.5(PRKAR1A):c.309G>A (p.Glu103=)
|
rs746113372
|
0.00001
|
NM_002778.4(PSAP):c.1146C>T (p.Cys382=)
|
rs573095617
|
0.00001
|
NM_002778.4(PSAP):c.1432-4A>G
|
rs775086571
|
0.00001
|
NM_002778.4(PSAP):c.250-12G>A
|
rs886047152
|
0.00001
|
NM_002778.4(PSAP):c.423C>T (p.Leu141=)
|
rs780891597
|
0.00001
|
NM_002890.3(RASA1):c.2139T>C (p.Ser713=)
|
rs202220195
|
0.00001
|
NM_002890.3(RASA1):c.2926-14C>T
|
rs886060843
|
0.00001
|
NM_002890.3(RASA1):c.567G>A (p.Thr189=)
|
rs139174054
|
0.00001
|
NM_003119.4(SPG7):c.2373G>A (p.Pro791=)
|
rs768453376
|
0.00001
|
NM_003119.4(SPG7):c.618+14C>T
|
rs574361328
|
0.00001
|
NM_003172.4(SURF1):c.106+15C>G
|
rs781892153
|
0.00001
|
NM_003172.4(SURF1):c.366C>T (p.Val122=)
|
rs886063630
|
0.00001
|
NM_003172.4(SURF1):c.801G>A (p.Leu267=)
|
rs782120692
|
0.00001
|
NM_003238.6(TGFB2):c.918G>A (p.Ala306=)
|
rs767936611
|
0.00001
|
NM_003242.6(TGFBR2):c.621G>A (p.Arg207=)
|
rs886058304
|
0.00001
|
NM_003283.6(TNNT1):c.366C>T (p.Arg122=)
|
rs375999352
|
0.00001
|
NM_003289.4(TPM2):c.558C>T (p.Ala186=)
|
rs746177794
|
0.00001
|
NM_003289.4(TPM2):c.564-9C>T
|
rs763429317
|
0.00001
|
NM_003331.5(TYK2):c.2658G>A (p.Ala886=)
|
rs761205319
|
0.00001
|
NM_003331.5(TYK2):c.879C>T (p.Ile293=)
|
rs375414145
|
0.00001
|
NM_003384.3(VRK1):c.828T>C (p.Ile276=)
|
rs1334577291
|
0.00001
|
NM_003413.4(ZIC3):c.668A>G (p.Asn223Ser)
|
rs1034877221
|
0.00001
|
NM_003482.4(KMT2D):c.14057A>C (p.Asn4686Thr)
|
rs1188206999
|
0.00001
|
NM_003560.4(PLA2G6):c.2028C>T (p.Ile676=)
|
rs561645994
|
0.00001
|
NM_003640.5(ELP1):c.2370A>G (p.Glu790=)
|
rs772114554
|
0.00001
|
NM_003640.5(ELP1):c.2598C>T (p.Pro866=)
|
rs773218149
|
0.00001
|
NM_003640.5(ELP1):c.3931+14C>G
|
rs555520875
|
0.00001
|
NM_003640.5(ELP1):c.959-8C>T
|
rs766511916
|
0.00001
|
NM_003664.5(AP3B1):c.1364-11A>G
|
rs759174401
|
0.00001
|
NM_003664.5(AP3B1):c.1890T>C (p.Ala630=)
|
rs774196917
|
0.00001
|
NM_003664.5(AP3B1):c.537-7T>A
|
rs773657171
|
0.00001
|
NM_003680.4(YARS1):c.391C>T (p.Leu131=)
|
rs759430430
|
0.00001
|
NM_003722.5(TP63):c.1644C>T (p.Ser548=)
|
rs763019843
|
0.00001
|
NM_003748.4(ALDH4A1):c.876A>G (p.Lys292=)
|
rs775591571
|
0.00001
|
NM_003764.4(STX11):c.570C>T (p.Ser190=)
|
rs148354227
|
0.00001
|
NM_003849.4(SUCLG1):c.201+8T>A
|
rs764185628
|
0.00001
|
NM_003850.3(SUCLA2):c.1318-15G>A
|
rs369590382
|
0.00001
|
NM_003850.3(SUCLA2):c.535-13C>T
|
rs372847680
|
0.00001
|
NM_003859.3(DPM1):c.295+7C>T
|
rs775797102
|
0.00001
|
NM_003859.3(DPM1):c.295+8G>A
|
rs758553918
|
0.00001
|
NM_003978.5(PSTPIP1):c.1248T>C (p.Leu416=)
|
rs556322755
|
0.00001
|
NM_004035.7(ACOX1):c.1821T>C (p.Val607=)
|
rs762221413
|
0.00001
|
NM_004035.7(ACOX1):c.408T>C (p.Tyr136=)
|
rs779313800
|
0.00001
|
NM_004035.7(ACOX1):c.659-4G>A
|
rs746563980
|
0.00001
|
NM_004064.5(CDKN1B):c.279G>A (p.Arg93=)
|
rs766901538
|
0.00001
|
NM_004100.5(EYA4):c.438-15T>C
|
rs752763979
|
0.00001
|
NM_004100.5(EYA4):c.888G>A (p.Ser296=)
|
rs768010410
|
0.00001
|
NM_004211.5(SLC6A5):c.4-11T>C
|
rs774039277
|
0.00001
|
NM_004239.4(TRIP11):c.5571T>C (p.Asn1857=)
|
rs369316409
|
0.00001
|
NM_004239.4(TRIP11):c.5607A>G (p.Glu1869=)
|
rs764596712
|
0.00001
|
NM_004239.4(TRIP11):c.5811A>C (p.Gly1937=)
|
rs748645116
|
0.00001
|
NM_004281.4(BAG3):c.1571T>C (p.Ile524Thr)
|
rs752390475
|
0.00001
|
NM_004304.5(ALK):c.1908C>G (p.Leu636=)
|
rs1268649558
|
0.00001
|
NM_004304.5(ALK):c.2304T>C (p.Asp768=)
|
rs758649392
|
0.00001
|
NM_004304.5(ALK):c.4344C>T (p.Ser1448=)
|
rs886055929
|
0.00001
|
NM_004304.5(ALK):c.4608G>A (p.Glu1536=)
|
rs147241767
|
0.00001
|
NM_004304.5(ALK):c.4809T>C (p.His1603=)
|
rs758502850
|
0.00001
|
NM_004320.6(ATP2A1):c.450C>T (p.Ile150=)
|
rs781369773
|
0.00001
|
NM_004360.5(CDH1):c.150C>A (p.Arg50=)
|
rs786201262
|
0.00001
|
NM_004360.5(CDH1):c.2505T>C (p.Tyr835=)
|
rs786202613
|
0.00001
|
NM_004360.5(CDH1):c.462A>G (p.Arg154=)
|
rs1057520261
|
0.00001
|
NM_004415.4(DSP):c.1468C>T (p.Arg490Cys)
|
rs781084693
|
0.00001
|
NM_004415.4(DSP):c.2071C>T (p.Leu691Phe)
|
rs1363445022
|
0.00001
|
NM_004415.4(DSP):c.2131-5G>C
|
rs767939332
|
0.00001
|
NM_004415.4(DSP):c.2377G>A (p.Glu793Lys)
|
rs755067397
|
0.00001
|
NM_004415.4(DSP):c.2878-4G>A
|
rs758303966
|
0.00001
|
NM_004415.4(DSP):c.314G>A (p.Arg105Gln)
|
rs762238621
|
0.00001
|
NM_004415.4(DSP):c.3601G>A (p.Glu1201Lys)
|
rs751566392
|
0.00001
|
NM_004415.4(DSP):c.4671G>A (p.Thr1557=)
|
rs367767551
|
0.00001
|
NM_004415.4(DSP):c.5062G>A (p.Ala1688Thr)
|
rs757753880
|
0.00001
|
NM_004415.4(DSP):c.5217C>T (p.Ser1739=)
|
rs748263306
|
0.00001
|
NM_004415.4(DSP):c.5283C>T (p.Asn1761=)
|
rs763355815
|
0.00001
|
NM_004415.4(DSP):c.5649G>A (p.Ser1883=)
|
rs760974941
|
0.00001
|
NM_004415.4(DSP):c.5820T>C (p.Asp1940=)
|
rs763026647
|
0.00001
|
NM_004415.4(DSP):c.6038G>A (p.Arg2013Gln)
|
rs557263443
|
0.00001
|
NM_004415.4(DSP):c.6968T>C (p.Ile2323Thr)
|
rs777901747
|
0.00001
|
NM_004415.4(DSP):c.7551G>A (p.Val2517=)
|
rs754127386
|
0.00001
|
NM_004415.4(DSP):c.8278G>A (p.Ala2760Thr)
|
rs991726607
|
0.00001
|
NM_004415.4(DSP):c.8529T>C (p.Ser2843=)
|
rs780005300
|
0.00001
|
NM_004415.4(DSP):c.9C>T (p.Cys3=)
|
rs769032973
|
0.00001
|
NM_004453.4(ETFDH):c.12G>A (p.Pro4=)
|
rs373776053
|
0.00001
|
NM_004453.4(ETFDH):c.1530C>T (p.Pro510=)
|
rs754795292
|
0.00001
|
NM_004453.4(ETFDH):c.1653G>A (p.Ser551=)
|
rs1408118210
|
0.00001
|
NM_004453.4(ETFDH):c.414T>G (p.Leu138=)
|
rs751256504
|
0.00001
|
NM_004612.4(TGFBR1):c.666A>G (p.Gly222=)
|
rs886063223
|
0.00001
|
NM_004655.4(AXIN2):c.1713C>T (p.Gly571=)
|
rs761978806
|
0.00001
|
NM_004655.4(AXIN2):c.2100C>T (p.Ala700=)
|
rs1057522521
|
0.00001
|
NM_004656.4(BAP1):c.177G>A (p.Arg59=)
|
rs770446947
|
0.00001
|
NM_004656.4(BAP1):c.581-4C>T
|
rs1578225974
|
0.00001
|
NM_004656.4(BAP1):c.581-6C>T
|
rs754576458
|
0.00001
|
NM_005198.5(CHKB):c.1031+12G>A
|
rs777277938
|
0.00001
|
NM_005198.5(CHKB):c.1114-6C>T
|
rs151123092
|
0.00001
|
NM_005198.5(CHKB):c.234C>G (p.Leu78=)
|
rs929019284
|
0.00001
|
NM_005198.5(CHKB):c.678-12A>G
|
rs749813559
|
0.00001
|
NM_005271.5(GLUD1):c.1515C>T (p.Ile505=)
|
rs774771496
|
0.00001
|
NM_005327.7(HADH):c.*383G>C
|
rs550706321
|
0.00001
|
NM_005327.7(HADH):c.159A>G (p.Val53=)
|
rs148846625
|
0.00001
|
NM_005327.7(HADH):c.72G>A (p.Lys24=)
|
rs781319494
|
0.00001
|
NM_005359.6(SMAD4):c.249+10A>C
|
rs752243771
|
0.00001
|
NM_005379.4(MYO1A):c.522C>T (p.Leu174=)
|
rs561295735
|
0.00001
|
NM_005445.4(SMC3):c.2163C>T (p.Ile721=)
|
rs1193209124
|
0.00001
|
NM_005535.3(IL12RB1):c.1197C>T (p.Tyr399=)
|
rs761731702
|
0.00001
|
NM_005546.4(ITK):c.1060+12A>C
|
rs765303299
|
0.00001
|
NM_005566.4(LDHA):c.222A>G (p.Thr74=)
|
rs201254300
|
0.00001
|
NM_005566.4(LDHA):c.285G>A (p.Thr95=)
|
rs202160072
|
0.00001
|
NM_005591.4(MRE11):c.1225+10T>G
|
rs863224734
|
0.00001
|
NM_005591.4(MRE11):c.1275A>C (p.Thr425=)
|
rs749712745
|
0.00001
|
NM_005591.4(MRE11):c.1783+10G>C
|
rs864622589
|
0.00001
|
NM_005591.4(MRE11):c.20+8C>A
|
rs766581183
|
0.00001
|
NM_005609.4(PYGM):c.1011G>A (p.Gln337=)
|
rs767039732
|
0.00001
|
NM_005609.4(PYGM):c.1092+15C>T
|
rs1319046232
|
0.00001
|
NM_005609.4(PYGM):c.2082C>T (p.Asp694=)
|
rs773543072
|
0.00001
|
NM_005609.4(PYGM):c.2322C>T (p.Val774=)
|
rs1045215677
|
0.00001
|
NM_005609.4(PYGM):c.256C>T (p.Leu86=)
|
rs541817643
|
0.00001
|
NM_005787.6(ALG3):c.66G>A (p.Lys22=)
|
rs778269575
|
0.00001
|
NM_005787.6(ALG3):c.696C>T (p.Leu232=)
|
rs1174962210
|
0.00001
|
NM_005902.4(SMAD3):c.1010-12T>C
|
rs773629535
|
0.00001
|
NM_005908.4(MANBA):c.1112+8A>C
|
rs752741187
|
0.00001
|
NM_005908.4(MANBA):c.111G>T (p.Ser37=)
|
rs927918838
|
0.00001
|
NM_005908.4(MANBA):c.1746A>T (p.Ser582=)
|
rs1730293546
|
0.00001
|
NM_005908.4(MANBA):c.2115T>C (p.Tyr705=)
|
rs180816849
|
0.00001
|
NM_006005.3(WFS1):c.1234G>C (p.Val412Leu)
|
rs149865710
|
0.00001
|
NM_006005.3(WFS1):c.2454C>T (p.Arg818=)
|
rs139223980
|
0.00001
|
NM_006005.3(WFS1):c.804C>T (p.Asp268=)
|
rs199741678
|
0.00001
|
NM_006096.4(NDRG1):c.855+14_855+15del
|
rs780070007
|
0.00001
|
NM_006118.4(HAX1):c.798C>T (p.Ser266=)
|
rs762492730
|
0.00001
|
NM_006206.6(PDGFRA):c.1122-6T>A
|
rs754623338
|
0.00001
|
NM_006206.6(PDGFRA):c.1794C>T (p.Val598=)
|
rs1218651787
|
0.00001
|
NM_006206.6(PDGFRA):c.2003-7C>T
|
rs886059447
|
0.00001
|
NM_006206.6(PDGFRA):c.2232C>T (p.Pro744=)
|
rs1060504254
|
0.00001
|
NM_006206.6(PDGFRA):c.2881-8G>A
|
rs778161572
|
0.00001
|
NM_006206.6(PDGFRA):c.345G>A (p.Arg115=)
|
rs778510648
|
0.00001
|
NM_006306.4(SMC1A):c.1917G>A (p.Val639=)
|
rs782292864
|
0.00001
|
NM_006348.5(COG5):c.538+10T>G
|
rs769195866
|
0.00001
|
NM_006348.5(COG5):c.836-9C>T
|
rs757452204
|
0.00001
|
NM_006371.5(CRTAP):c.528T>G (p.Pro176=)
|
rs774680682
|
0.00001
|
NM_006397.3(RNASEH2A):c.285G>A (p.Val95=)
|
rs374650162
|
0.00001
|
NM_006397.3(RNASEH2A):c.516C>T (p.Tyr172=)
|
rs1415211346
|
0.00001
|
NM_006397.3(RNASEH2A):c.637+8G>A
|
rs757139110
|
0.00001
|
NM_006397.3(RNASEH2A):c.762-13C>G
|
rs781591228
|
0.00001
|
NM_006757.4(TNNT3):c.690G>A (p.Thr230=)
|
rs753756081
|
0.00001
|
NM_006790.3(MYOT):c.1222T>C (p.Leu408=)
|
rs886059968
|
0.00001
|
NM_006892.4(DNMT3B):c.132G>A (p.Pro44=)
|
rs138805251
|
0.00001
|
NM_006892.4(DNMT3B):c.895C>A (p.Arg299=)
|
rs201067137
|
0.00001
|
NM_006949.4(STXBP2):c.1230C>T (p.Tyr410=)
|
rs771186417
|
0.00001
|
NM_006949.4(STXBP2):c.169+11G>C
|
rs756350869
|
0.00001
|
NM_007078.3(LDB3):c.723C>T (p.Ser241=)
|
rs200580597
|
0.00001
|
NM_007194.4(CHEK2):c.1452G>A (p.Pro484=)
|
rs749156425
|
0.00001
|
NM_007194.4(CHEK2):c.1593G>A (p.Glu531=)
|
rs758555487
|
0.00001
|
NM_007194.4(CHEK2):c.573G>C (p.Leu191=)
|
rs786201267
|
0.00001
|
NM_007272.3(CTRC):c.230+7G>A
|
rs754126755
|
0.00001
|
NM_007294.4(BRCA1):c.2613G>A (p.Pro871=)
|
rs587782608
|
0.00001
|
NM_007294.4(BRCA1):c.3082C>T (p.Arg1028Cys)
|
rs80357049
|
0.00001
|
NM_007294.4(BRCA1):c.4347A>G (p.Thr1449=)
|
rs80356840
|
0.00001
|
NM_007294.4(BRCA1):c.5153-13A>G
|
rs45471406
|
0.00001
|
NM_007294.4(BRCA1):c.5586C>T (p.His1862=)
|
rs774127304
|
0.00001
|
NM_012179.4(FBXO7):c.1527C>A (p.Pro509=)
|
rs758609287
|
0.00001
|
NM_012179.4(FBXO7):c.447G>A (p.Glu149=)
|
rs1012166328
|
0.00001
|
NM_012275.3(IL36RN):c.333C>T (p.Phe111=)
|
rs199824136
|
0.00001
|
NM_012434.5(SLC17A5):c.1272C>A (p.Ile424=)
|
rs374241516
|
0.00001
|
NM_012434.5(SLC17A5):c.573C>G (p.Pro191=)
|
rs924683894
|
0.00001
|
NM_013339.4(ALG6):c.430-9T>G
|
rs769256352
|
0.00001
|
NM_013339.4(ALG6):c.648C>G (p.Gly216=)
|
rs1270440540
|
0.00001
|
NM_013444.4(UBQLN2):c.243A>G (p.Leu81=)
|
rs778382794
|
0.00001
|
NM_014000.3(VCL):c.1543+8C>G
|
rs886047218
|
0.00001
|
NM_014000.3(VCL):c.3186G>A (p.Gln1062=)
|
rs761534024
|
0.00001
|
NM_014000.3(VCL):c.36C>T (p.Ile12=)
|
rs774195260
|
0.00001
|
NM_014049.5(ACAD9):c.1062C>T (p.Tyr354=)
|
rs886057957
|
0.00001
|
NM_014049.5(ACAD9):c.1398C>T (p.Thr466=)
|
rs772732061
|
0.00001
|
NM_014049.5(ACAD9):c.284A>C (p.Asp95Ala)
|
rs761565265
|
0.00001
|
NM_014140.4(SMARCAL1):c.1944C>T (p.Ser648=)
|
rs752241342
|
0.00001
|
NM_014140.4(SMARCAL1):c.2316A>G (p.Gln772=)
|
rs1322248626
|
0.00001
|
NM_014141.6(CNTNAP2):c.3651G>A (p.Ser1217=)
|
rs377455159
|
0.00001
|
NM_014141.6(CNTNAP2):c.687A>G (p.Glu229=)
|
rs767033703
|
0.00001
|
NM_014141.6(CNTNAP2):c.87C>T (p.Pro29=)
|
rs886062049
|
0.00001
|
NM_014244.5(ADAMTS2):c.1428G>A (p.Pro476=)
|
rs374288519
|
0.00001
|
NM_014244.5(ADAMTS2):c.2290+15C>T
|
rs764259203
|
0.00001
|
NM_014244.5(ADAMTS2):c.2688C>T (p.Ala896=)
|
rs370747086
|
0.00001
|
NM_014244.5(ADAMTS2):c.2727C>T (p.Asn909=)
|
rs151261888
|
0.00001
|
NM_014244.5(ADAMTS2):c.2811G>A (p.Val937=)
|
rs557019144
|
0.00001
|
NM_014244.5(ADAMTS2):c.2958+14C>T
|
rs755961602
|
0.00001
|
NM_014244.5(ADAMTS2):c.3089-7C>A
|
rs760424301
|
0.00001
|
NM_014244.5(ADAMTS2):c.3351C>T (p.Asp1117=)
|
rs777279065
|
0.00001
|
NM_014244.5(ADAMTS2):c.661C>G (p.Leu221Val)
|
rs756807336
|
0.00001
|
NM_014244.5(ADAMTS2):c.669G>T (p.Gly223=)
|
rs886060495
|
0.00001
|
NM_014244.5(ADAMTS2):c.819C>T (p.Gly273=)
|
rs751895494
|
0.00001
|
NM_014252.4(SLC25A15):c.225C>T (p.Ile75=)
|
rs765380976
|
0.00001
|
NM_014290.3(TDRD7):c.2955A>G (p.Gly985=)
|
rs201216195
|
0.00001
|
NM_014297.5(ETHE1):c.489G>A (p.Arg163=)
|
rs533076307
|
0.00001
|
NM_014324.6(AMACR):c.366C>T (p.His122=)
|
rs775128044
|
0.00001
|
NM_014324.6(AMACR):c.48G>A (p.Pro16=)
|
rs144271819
|
0.00001
|
NM_014336.5(AIPL1):c.33G>C (p.Gly11=)
|
rs369223841
|
0.00001
|
NM_014336.5(AIPL1):c.939G>A (p.Ala313=)
|
rs200401166
|
0.00001
|
NM_014339.7(IL17RA):c.1045+7G>A
|
rs572837622
|
0.00001
|
NM_014339.7(IL17RA):c.1347C>T (p.Arg449=)
|
rs781731675
|
0.00001
|
NM_014339.7(IL17RA):c.1928G>A (p.Gly643Glu)
|
rs559058243
|
0.00001
|
NM_014339.7(IL17RA):c.36G>T (p.Pro12=)
|
rs886057200
|
0.00001
|
NM_014363.6(SACS):c.1728C>T (p.Tyr576=)
|
rs750748828
|
0.00001
|
NM_014363.6(SACS):c.3417C>T (p.His1139=)
|
rs758862765
|
0.00001
|
NM_014363.6(SACS):c.60C>T (p.Cys20=)
|
rs932552006
|
0.00001
|
NM_014363.6(SACS):c.861C>T (p.Tyr287=)
|
rs200877272
|
0.00001
|
NM_014425.5(INVS):c.1317C>T (p.Cys439=)
|
rs886063266
|
0.00001
|
NM_014585.6(SLC40A1):c.546G>A (p.Gln182=)
|
rs104893670
|
0.00001
|
NM_014714.4(IFT140):c.1452G>A (p.Thr484=)
|
rs914258252
|
0.00001
|
NM_014714.4(IFT140):c.1872G>A (p.Thr624=)
|
rs775156902
|
0.00001
|
NM_014714.4(IFT140):c.298C>G (p.Leu100Val)
|
rs546498421
|
0.00001
|
NM_014714.4(IFT140):c.3402C>T (p.Ile1134=)
|
rs761692949
|
0.00001
|
NM_014714.4(IFT140):c.3501C>T (p.Thr1167=)
|
rs377319314
|
0.00001
|
NM_014714.4(IFT140):c.3525C>G (p.Thr1175=)
|
rs752664070
|
0.00001
|
NM_014714.4(IFT140):c.36G>A (p.Pro12=)
|
rs574028286
|
0.00001
|
NM_014714.4(IFT140):c.4026C>T (p.Phe1342=)
|
rs776522454
|
0.00001
|
NM_014714.4(IFT140):c.4251G>A (p.Pro1417=)
|
rs773095902
|
0.00001
|
NM_014714.4(IFT140):c.4278G>T (p.Gly1426=)
|
rs200161877
|
0.00001
|
NM_014714.4(IFT140):c.850G>A (p.Ala284Thr)
|
rs778404277
|
0.00001
|
NM_014855.3(AP5Z1):c.1119C>T (p.Phe373=)
|
rs886062353
|
0.00001
|
NM_014855.3(AP5Z1):c.1597T>C (p.Leu533=)
|
rs775572689
|
0.00001
|
NM_014855.3(AP5Z1):c.1707+14C>T
|
rs759055397
|
0.00001
|
NM_014855.3(AP5Z1):c.1863G>A (p.Glu621=)
|
rs780422345
|
0.00001
|
NM_014874.4(MFN2):c.2204+13C>T
|
rs200441797
|
0.00001
|
NM_015192.4(PLCB1):c.1668A>G (p.Glu556=)
|
rs886056963
|
0.00001
|
NM_015192.4(PLCB1):c.3447A>G (p.Glu1149=)
|
rs142432676
|
0.00001
|
NM_015192.4(PLCB1):c.456G>A (p.Leu152=)
|
rs200598979
|
0.00001
|
NM_015272.5(RPGRIP1L):c.3451A>C (p.Ile1151Leu)
|
rs886038619
|
0.00001
|
NM_015474.4(SAMHD1):c.1725C>T (p.Asp575=)
|
rs1448113794
|
0.00001
|
NM_015474.4(SAMHD1):c.840C>T (p.Val280=)
|
rs17853622
|
0.00001
|
NM_015627.3(LDLRAP1):c.88+8T>A
|
rs2043860268
|
0.00001
|
NM_015915.5(ATL1):c.1623T>G (p.Ala541=)
|
rs777479928
|
0.00001
|
NM_015915.5(ATL1):c.300T>G (p.Val100=)
|
rs863224772
|
0.00001
|
NM_016042.4(EXOSC3):c.325-6T>C
|
rs375827861
|
0.00001
|
NM_016203.4(PRKAG2):c.186+7C>T
|
rs886062102
|
0.00001
|
NM_016203.4(PRKAG2):c.202G>A (p.Gly68Ser)
|
rs730880970
|
0.00001
|
NM_016219.5(MAN1B1):c.1110C>G (p.Ser370=)
|
rs776601946
|
0.00001
|
NM_016219.5(MAN1B1):c.1626C>T (p.Pro542=)
|
rs754107444
|
0.00001
|
NM_016219.5(MAN1B1):c.1998G>A (p.Lys666=)
|
rs150436630
|
0.00001
|
NM_016219.5(MAN1B1):c.2016C>T (p.Phe672=)
|
rs746212127
|
0.00001
|
NM_016219.5(MAN1B1):c.882G>A (p.Ala294=)
|
rs750236367
|
0.00001
|
NM_016277.5(RAB23):c.93A>G (p.Lys31=)
|
rs201735614
|
0.00001
|
NM_016464.5(TMEM138):c.420A>G (p.Arg140=)
|
rs548368196
|
0.00001
|
NM_016464.5(TMEM138):c.482G>A (p.Arg161Gln)
|
rs569659022
|
0.00001
|
NM_016729.3(FOLR1):c.57A>G (p.Val19=)
|
rs769589754
|
0.00001
|
NM_016729.3(FOLR1):c.588C>T (p.Ser196=)
|
rs755278391
|
0.00001
|
NM_016729.3(FOLR1):c.678G>A (p.Ala226=)
|
rs531930335
|
0.00001
|
NM_016938.5(EFEMP2):c.639C>T (p.Cys213=)
|
rs199606204
|
0.00001
|
NM_017534.6(MYH2):c.1251C>A (p.Gly417=)
|
rs746987085
|
0.00001
|
NM_017534.6(MYH2):c.2305-11T>G
|
rs369500791
|
0.00001
|
NM_017534.6(MYH2):c.3263+11A>G
|
rs890845570
|
0.00001
|
NM_017534.6(MYH2):c.688C>T (p.Leu230=)
|
rs375063863
|
0.00001
|
NM_017636.4(TRPM4):c.1473A>G (p.Leu491=)
|
rs142739227
|
0.00001
|
NM_017636.4(TRPM4):c.2229G>A (p.Glu743=)
|
rs745667706
|
0.00001
|
NM_017636.4(TRPM4):c.2231A>T (p.Lys744Met)
|
rs569301210
|
0.00001
|
NM_017636.4(TRPM4):c.2403G>T (p.Leu801=)
|
rs1455410186
|
0.00001
|
NM_017636.4(TRPM4):c.291G>A (p.Thr97=)
|
rs886054576
|
0.00001
|
NM_017636.4(TRPM4):c.3489A>G (p.Gly1163=)
|
rs760190293
|
0.00001
|
NM_017636.4(TRPM4):c.837T>C (p.Asp279=)
|
rs373391017
|
0.00001
|
NM_017780.4(CHD7):c.6321C>T (p.His2107=)
|
rs778800676
|
0.00001
|
NM_017875.4(SLC25A38):c.288A>G (p.Arg96=)
|
rs765578993
|
0.00001
|
NM_018100.4(EFHC1):c.1194T>C (p.Phe398=)
|
rs201946033
|
0.00001
|
NM_018344.6(SLC29A3):c.138C>T (p.Pro46=)
|
rs374417695
|
0.00001
|
NM_018344.6(SLC29A3):c.624C>T (p.Gly208=)
|
rs757865136
|
0.00001
|
NM_018344.6(SLC29A3):c.804T>C (p.His268=)
|
rs896755457
|
0.00001
|
NM_018368.4(LMBRD1):c.867T>A (p.Ile289=)
|
rs747318789
|
0.00001
|
NM_018389.5(SLC35C1):c.666G>A (p.Ala222=)
|
rs754930082
|
0.00001
|
NM_018389.5(SLC35C1):c.837C>T (p.Ala279=)
|
rs371692301
|
0.00001
|
NM_018418.5(SPATA7):c.19+7G>A
|
rs199560035
|
0.00001
|
NM_018418.5(SPATA7):c.372+11A>G
|
rs757636745
|
0.00001
|
NM_018714.3(COG1):c.2682C>T (p.Asn894=)
|
rs781686684
|
0.00001
|
NM_019892.6(INPP5E):c.1530C>T (p.Leu510=)
|
rs780119172
|
0.00001
|
NM_019892.6(INPP5E):c.1686C>T (p.Ser562=)
|
rs760729838
|
0.00001
|
NM_020166.5(MCCC1):c.1281C>T (p.Ser427=)
|
rs763713221
|
0.00001
|
NM_020166.5(MCCC1):c.1722T>C (p.Tyr574=)
|
rs747015041
|
0.00001
|
NM_020166.5(MCCC1):c.1839C>A (p.Ile613=)
|
rs201782543
|
0.00001
|
NM_020166.5(MCCC1):c.9G>A (p.Ala3=)
|
rs1191355416
|
0.00001
|
NM_020297.4(ABCC9):c.1659+10T>C
|
rs201753781
|
0.00001
|
NM_020297.4(ABCC9):c.1875G>A (p.Ser625=)
|
rs727502873
|
0.00001
|
NM_020297.4(ABCC9):c.2199-6T>C
|
rs535477725
|
0.00001
|
NM_020297.4(ABCC9):c.3669+10T>C
|
rs199640712
|
0.00001
|
NM_020297.4(ABCC9):c.4103-14T>C
|
rs1462468885
|
0.00001
|
NM_020366.4(RPGRIP1):c.3239-14C>T
|
rs542859849
|
0.00001
|
NM_020376.4(PNPLA2):c.1491C>T (p.Pro497=)
|
rs1434319423
|
0.00001
|
NM_020376.4(PNPLA2):c.781T>C (p.Leu261=)
|
rs758918583
|
0.00001
|
NM_020376.4(PNPLA2):c.912C>A (p.Leu304=)
|
rs886048710
|
0.00001
|
NM_020533.3(MCOLN1):c.1458C>A (p.Arg486=)
|
rs1453967813
|
0.00001
|
NM_020533.3(MCOLN1):c.1707-7C>T
|
rs371588106
|
0.00001
|
NM_020533.3(MCOLN1):c.189C>T (p.Pro63=)
|
rs1182165362
|
0.00001
|
NM_020533.3(MCOLN1):c.32-12C>A
|
rs1372906524
|
0.00001
|
NM_020533.3(MCOLN1):c.429A>G (p.Ser143=)
|
rs777036069
|
0.00001
|
NM_020533.3(MCOLN1):c.558G>A (p.Pro186=)
|
rs773903184
|
0.00001
|
NM_020533.3(MCOLN1):c.777+13G>A
|
rs775042317
|
0.00001
|
NM_020533.3(MCOLN1):c.78G>A (p.Ala26=)
|
rs746629838
|
0.00001
|
NM_020686.6(ABAT):c.1431G>A (p.Thr477=)
|
rs573157071
|
0.00001
|
NM_020686.6(ABAT):c.285T>C (p.Asp95=)
|
rs917180192
|
0.00001
|
NM_020686.6(ABAT):c.387C>T (p.Pro129=)
|
rs759203240
|
0.00001
|
NM_020686.6(ABAT):c.978C>T (p.Asp326=)
|
rs201727625
|
0.00001
|
NM_020919.4(ALS2):c.1640+10A>G
|
rs755148474
|
0.00001
|
NM_020975.6(RET):c.1264-8C>T
|
rs769595884
|
0.00001
|
NM_020975.6(RET):c.1890C>T (p.Cys630=)
|
rs781145070
|
0.00001
|
NM_020975.6(RET):c.2538C>T (p.Leu846=)
|
rs201816539
|
0.00001
|
NM_021625.5(TRPV4):c.2439C>T (p.Thr813=)
|
rs545589086
|
0.00001
|
NM_021922.3(FANCE):c.216G>T (p.Pro72=)
|
rs886061328
|
0.00001
|
NM_021957.4(GYS2):c.1230-5T>G
|
rs777032042
|
0.00001
|
NM_022041.4(GAN):c.1017G>A (p.Gln339=)
|
rs201451382
|
0.00001
|
NM_022041.4(GAN):c.471G>A (p.Leu157=)
|
rs143704621
|
0.00001
|
NM_022041.4(GAN):c.634-6C>T
|
rs199874705
|
0.00001
|
NM_022041.4(GAN):c.801A>G (p.Lys267=)
|
rs746799355
|
0.00001
|
NM_022041.4(GAN):c.806G>A (p.Arg269Gln)
|
rs759581558
|
0.00001
|
NM_022042.4(SLC26A1):c.*876C>T
|
rs546988577
|
0.00001
|
NM_022124.6(CDH23):c.2310C>T (p.Asp770=)
|
rs886047131
|
0.00001
|
NM_022124.6(CDH23):c.4179C>T (p.Asp1393=)
|
rs571668370
|
0.00001
|
NM_022124.6(CDH23):c.9108G>A (p.Glu3036=)
|
rs768198017
|
0.00001
|
NM_022124.6(CDH23):c.960C>T (p.Asn320=)
|
rs756644736
|
0.00001
|
NM_022124.6(CDH23):c.9860G>A (p.Gly3287Asp)
|
rs562590210
|
0.00001
|
NM_022132.5(MCCC2):c.330C>T (p.Asp110=)
|
rs201872484
|
0.00001
|
NM_022367.4(SEMA4A):c.2106C>T (p.Leu702=)
|
rs772147085
|
0.00001
|
NM_024079.5(ALG8):c.1460A>G (p.Tyr487Cys)
|
rs777557874
|
0.00001
|
NM_024105.4(ALG12):c.117G>A (p.Leu39=)
|
rs371814322
|
0.00001
|
NM_024105.4(ALG12):c.933C>T (p.Arg311=)
|
rs779215527
|
0.00001
|
NM_024422.6(DSC2):c.2126-11T>C
|
rs1283105269
|
0.00001
|
NM_024422.6(DSC2):c.2430G>A (p.Arg810=)
|
rs755276378
|
0.00001
|
NM_024529.5(CDC73):c.1011C>T (p.Ala337=)
|
rs372567546
|
0.00001
|
NM_024570.4(RNASEH2B):c.897C>A (p.Thr299=)
|
rs886050291
|
0.00001
|
NM_024589.3(ROGDI):c.507C>T (p.Pro169=)
|
rs767771299
|
0.00001
|
NM_024589.3(ROGDI):c.753C>T (p.Ile251=)
|
rs144581570
|
0.00001
|
NM_025099.6(CTC1):c.1500C>T (p.Pro500=)
|
rs761750183
|
0.00001
|
NM_025099.6(CTC1):c.1548G>A (p.Pro516=)
|
rs781000475
|
0.00001
|
NM_025099.6(CTC1):c.2439G>A (p.Pro813=)
|
rs200759730
|
0.00001
|
NM_025099.6(CTC1):c.3190A>G (p.Thr1064Ala)
|
rs777357385
|
0.00001
|
NM_025137.4(SPG11):c.39C>T (p.Ala13=)
|
rs759646328
|
0.00001
|
NM_025137.4(SPG11):c.5595A>G (p.Thr1865=)
|
rs375403626
|
0.00001
|
NM_025137.4(SPG11):c.5598C>T (p.Cys1866=)
|
rs570599267
|
0.00001
|
NM_025137.4(SPG11):c.581C>T (p.Pro194Leu)
|
rs573482671
|
0.00001
|
NM_025137.4(SPG11):c.6726A>G (p.Gln2242=)
|
rs376245210
|
0.00001
|
NM_025137.4(SPG11):c.7258T>A (p.Phe2420Ile)
|
rs779900397
|
0.00001
|
NM_025243.4(SLC19A3):c.861C>T (p.Phe287=)
|
rs764867524
|
0.00001
|
NM_030777.4(SLC2A10):c.1032C>T (p.Asp344=)
|
rs1301992983
|
0.00001
|
NM_030777.4(SLC2A10):c.1305C>T (p.Leu435=)
|
rs201159437
|
0.00001
|
NM_030777.4(SLC2A10):c.432C>T (p.Thr144=)
|
rs371344477
|
0.00001
|
NM_030777.4(SLC2A10):c.810G>C (p.Val270=)
|
rs774452914
|
0.00001
|
NM_031885.5(BBS2):c.327G>A (p.Ser109=)
|
rs770497817
|
0.00001
|
NM_031885.5(BBS2):c.534+7G>C
|
rs886052149
|
0.00001
|
NM_032043.3(BRIP1):c.612C>G (p.Ser204=)
|
rs587780832
|
0.00001
|
NM_032193.4(RNASEH2C):c.173-14G>A
|
rs886048502
|
0.00001
|
NM_032520.5(GNPTG):c.297C>T (p.Asn99=)
|
rs201045559
|
0.00001
|
NM_032634.4(PIGO):c.1416A>T (p.Ala472=)
|
rs749630366
|
0.00001
|
NM_032634.4(PIGO):c.2874G>C (p.Leu958=)
|
rs1269359376
|
0.00001
|
NM_032977.4(CASP10):c.442-14T>G
|
rs755555484
|
0.00001
|
NM_032977.4(CASP10):c.81T>C (p.Ile27=)
|
rs751728796
|
0.00001
|
NM_033159.4(HYAL1):c.630T>C (p.Tyr210=)
|
rs781838448
|
0.00001
|
NM_033305.3(VPS13A):c.927A>G (p.Ala309=)
|
rs749004984
|
0.00001
|
NM_052813.5(CARD9):c.549C>T (p.Tyr183=)
|
rs528585158
|
0.00001
|
NM_052845.4(MMAB):c.522G>A (p.Ser174=)
|
rs545625368
|
0.00001
|
NM_052859.4(RFT1):c.201C>T (p.Arg67=)
|
rs954135080
|
0.00001
|
NM_053013.4(ENO3):c.363G>A (p.Ala121=)
|
rs201872558
|
0.00001
|
NM_053025.4(MYLK):c.1630C>T (p.Arg544Trp)
|
rs552998417
|
0.00001
|
NM_053025.4(MYLK):c.1745C>A (p.Thr582Asn)
|
rs749069560
|
0.00001
|
NM_053025.4(MYLK):c.2604C>T (p.Asp868=)
|
rs372924929
|
0.00001
|
NM_053025.4(MYLK):c.3336C>A (p.Gly1112=)
|
rs1060504648
|
0.00001
|
NM_053025.4(MYLK):c.3372C>T (p.Asp1124=)
|
rs774568740
|
0.00001
|
NM_053025.4(MYLK):c.3900G>A (p.Ala1300=)
|
rs563116446
|
0.00001
|
NM_053025.4(MYLK):c.5703G>A (p.Thr1901=)
|
rs540804249
|
0.00001
|
NM_054012.4(ASS1):c.1083C>T (p.Leu361=)
|
rs78564724
|
0.00001
|
NM_058216.3(RAD51C):c.404+7T>C
|
rs1350153132
|
0.00001
|
NM_058216.3(RAD51C):c.435A>G (p.Pro145=)
|
rs555235745
|
0.00001
|
NM_058246.4(DNAJB6):c.723G>A (p.Glu241=)
|
rs886062129
|
0.00001
|
NM_080424.4(SP110):c.711C>T (p.Asp237=)
|
rs1167489264
|
0.00001
|
NM_080680.3(COL11A2):c.2416C>T (p.Arg806Cys)
|
rs376355040
|
0.00001
|
NM_080680.3(COL11A2):c.453T>C (p.Arg151=)
|
rs147115504
|
0.00001
|
NM_080680.3(COL11A2):c.4951G>A (p.Val1651Ile)
|
rs766589324
|
0.00001
|
NM_133259.4(LRPPRC):c.2385C>T (p.Gly795=)
|
rs886056056
|
0.00001
|
NM_133259.4(LRPPRC):c.3641A>G (p.Gln1214Arg)
|
rs140482502
|
0.00001
|
NM_133433.4(NIPBL):c.3660G>A (p.Ala1220=)
|
rs143252734
|
0.00001
|
NM_133433.4(NIPBL):c.7411-15G>A
|
rs374348403
|
0.00001
|
NM_133642.5(LARGE1):c.1005+15T>G
|
rs1414312676
|
0.00001
|
NM_133642.5(LARGE1):c.492-6C>G
|
rs762612242
|
0.00001
|
NM_138694.4(PKHD1):c.1693+10G>A
|
rs886061621
|
0.00001
|
NM_138694.4(PKHD1):c.192C>T (p.Asn64=)
|
rs148089143
|
0.00001
|
NM_138694.4(PKHD1):c.5160C>T (p.Asp1720=)
|
rs754333450
|
0.00001
|
NM_138694.4(PKHD1):c.5601-8C>T
|
rs578030952
|
0.00001
|
NM_138694.4(PKHD1):c.6054C>T (p.Tyr2018=)
|
rs774944622
|
0.00001
|
NM_138694.4(PKHD1):c.7733+15C>A
|
rs771759749
|
0.00001
|
NM_138694.4(PKHD1):c.8181C>G (p.Thr2727=)
|
rs759658629
|
0.00001
|
NM_139276.3(STAT3):c.657T>C (p.Ser219=)
|
rs886052943
|
0.00001
|
NM_139343.3(BIN1):c.1092C>T (p.Asp364=)
|
rs745647728
|
0.00001
|
NM_139343.3(BIN1):c.1675-7C>T
|
rs372449622
|
0.00001
|
NM_139343.3(BIN1):c.698+15G>A
|
rs535176915
|
0.00001
|
NM_144599.5(NIPA1):c.267G>A (p.Ala89=)
|
rs751391752
|
0.00001
|
NM_144687.4(NLRP12):c.2244-14C>T
|
rs866055657
|
0.00001
|
NM_144687.4(NLRP12):c.654G>A (p.Ala218=)
|
rs745766441
|
0.00001
|
NM_144687.4(NLRP12):c.861G>A (p.Glu287=)
|
rs765562062
|
0.00001
|
NM_148919.4(PSMB8):c.686G>A (p.Arg229His)
|
rs547653681
|
0.00001
|
NM_152269.5(MTRFR):c.90G>A (p.Thr30=)
|
rs775127232
|
0.00001
|
NM_152296.5(ATP1A3):c.1303-15C>A
|
rs782749835
|
0.00001
|
NM_152296.5(ATP1A3):c.2307C>T (p.Thr769=)
|
rs886054473
|
0.00001
|
NM_152296.5(ATP1A3):c.2418+9T>A
|
rs950336124
|
0.00001
|
NM_152296.5(ATP1A3):c.936C>A (p.Ile312=)
|
rs782140994
|
0.00001
|
NM_152383.5(DIS3L2):c.1425+13A>G
|
rs565049855
|
0.00001
|
NM_152383.5(DIS3L2):c.1809G>A (p.Glu603=)
|
rs748787779
|
0.00001
|
NM_152383.5(DIS3L2):c.2151C>T (p.Ala717=)
|
rs747739911
|
0.00001
|
NM_152383.5(DIS3L2):c.2394C>T (p.Asn798=)
|
rs773602107
|
0.00001
|
NM_152383.5(DIS3L2):c.2637C>T (p.Pro879=)
|
rs376299829
|
0.00001
|
NM_152564.5(VPS13B):c.10237G>T (p.Ala3413Ser)
|
rs79324124
|
0.00001
|
NM_152564.5(VPS13B):c.2244T>C (p.Asp748=)
|
rs146450992
|
0.00001
|
NM_152564.5(VPS13B):c.5472G>A (p.Met1824Ile)
|
rs771916272
|
0.00001
|
NM_152564.5(VPS13B):c.6591C>T (p.Ser2197=)
|
rs774730061
|
0.00001
|
NM_152564.5(VPS13B):c.6866-14C>A
|
rs1277958075
|
0.00001
|
NM_152564.5(VPS13B):c.7716A>G (p.Val2572=)
|
rs981350121
|
0.00001
|
NM_152564.5(VPS13B):c.8361+12C>T
|
rs886062546
|
0.00001
|
NM_152564.5(VPS13B):c.8958T>G (p.Val2986=)
|
rs753530965
|
0.00001
|
NM_152564.5(VPS13B):c.9339T>A (p.Arg3113=)
|
rs78277780
|
0.00001
|
NM_152564.5(VPS13B):c.9603A>G (p.Gly3201=)
|
rs564362618
|
0.00001
|
NM_152783.5(D2HGDH):c.1446G>A (p.Lys482=)
|
rs763276027
|
0.00001
|
NM_152783.5(D2HGDH):c.963C>T (p.Val321=)
|
rs141524359
|
0.00001
|
NM_153603.4(COG7):c.687+14C>T
|
rs139853094
|
0.00001
|
NM_170707.4(LMNA):c.514-11C>T
|
rs886045365
|
0.00001
|
NM_177438.3(DICER1):c.5010A>G (p.Glu1670=)
|
rs886050940
|
0.00001
|
NM_177438.3(DICER1):c.5365-9C>T
|
rs778669119
|
0.00001
|
NM_182760.4(SUMF1):c.30T>C (p.Cys10=)
|
rs746169425
|
0.00001
|
NM_182760.4(SUMF1):c.447T>C (p.Ala149=)
|
rs750372409
|
0.00001
|
NM_182760.4(SUMF1):c.45G>A (p.Glu15=)
|
rs1460272243
|
0.00001
|
NM_182894.3(VSX2):c.371-14C>T
|
rs750778630
|
0.00001
|
NM_182914.3(SYNE2):c.16605+10A>G
|
rs761193543
|
0.00001
|
NM_182914.3(SYNE2):c.16854G>A (p.Val5618=)
|
rs1490325276
|
0.00001
|
NM_182914.3(SYNE2):c.17832G>A (p.Ala5944=)
|
rs886050596
|
0.00001
|
NM_182914.3(SYNE2):c.18015T>C (p.His6005=)
|
rs1323946751
|
0.00001
|
NM_182914.3(SYNE2):c.3102C>T (p.Ser1034=)
|
rs886050580
|
0.00001
|
NM_182914.3(SYNE2):c.5835A>G (p.Leu1945=)
|
rs766666230
|
0.00001
|
NM_198525.3(KIF7):c.1218C>G (p.Gly406=)
|
rs886051536
|
0.00001
|
NM_198525.3(KIF7):c.3112-10G>A
|
rs370548253
|
0.00001
|
NM_198525.3(KIF7):c.3477G>A (p.Glu1159=)
|
rs886192389
|
0.00001
|
NM_198525.3(KIF7):c.3894G>A (p.Ala1298=)
|
rs370333561
|
0.00001
|
NM_198525.3(KIF7):c.3957G>T (p.Gly1319=)
|
rs886051529
|
0.00001
|
NM_198904.4(GABRG2):c.1172G>A (p.Arg391His)
|
rs528036202
|
0.00001
|
NM_198904.4(GABRG2):c.1389G>A (p.Leu463=)
|
rs765904792
|
0.00001
|
NM_198904.4(GABRG2):c.769+10A>G
|
rs765703079
|
0.00001
|
NM_199242.3(UNC13D):c.156G>T (p.Arg52=)
|
rs111728477
|
0.00001
|
NM_199242.3(UNC13D):c.3141C>A (p.Pro1047=)
|
rs866899109
|
0.00001
|
NM_206937.2(LIG4):c.1020A>G (p.Gln340=)
|
rs535025599
|
0.00001
|
NM_206937.2(LIG4):c.1239A>G (p.Glu413=)
|
rs1342090676
|
0.00001
|
NM_206937.2(LIG4):c.1710T>C (p.Tyr570=)
|
rs763222026
|
0.00001
|
NM_206937.2(LIG4):c.713T>C (p.Ile238Thr)
|
rs201289944
|
0.00001
|
NM_213599.3(ANO5):c.1801-9T>C
|
rs202034123
|
0.00001
|
NM_213599.3(ANO5):c.2139C>T (p.Thr713=)
|
rs767479331
|
0.00001
|
NM_000016.6(ACADM):c.624T>C (p.Asp208=)
|
rs886046523
|
|
NM_000018.4(ACADVL):c.1215C>T (p.Asp405=)
|
rs2071338251
|
|
NM_000018.4(ACADVL):c.1434+14T>A
|
rs202217537
|
|
NM_000018.4(ACADVL):c.180G>C (p.Leu60=)
|
rs886053372
|
|
NM_000019.4(ACAT1):c.15G>C (p.Ala5=)
|
rs886047594
|
|
NM_000019.4(ACAT1):c.436-4G>C
|
rs3741050
|
|
NM_000019.4(ACAT1):c.941-13T>C
|
rs760991373
|
|
NM_000022.4(ADA):c.445C>A (p.Arg149=)
|
rs121908733
|
|
NM_000027.4(AGA):c.34G>T (p.Val12Leu)
|
rs74626221
|
|
NM_000033.4(ABCD1):c.1092C>G (p.Ala364=)
|
rs782250326
|
|
NM_000033.4(ABCD1):c.1428C>T (p.Cys476=)
|
rs141446687
|
|
NM_000035.4(ALDOB):c.178C>A (p.Arg60=)
|
rs118204429
|
|
NM_000035.4(ALDOB):c.282C>T (p.Phe94=)
|
rs549682194
|
|
NM_000035.4(ALDOB):c.375T>C (p.Ile125=)
|
rs886063292
|
|
NM_000035.4(ALDOB):c.486C>G (p.Leu162=)
|
rs773334784
|
|
NM_000035.4(ALDOB):c.486C>T (p.Leu162=)
|
rs773334784
|
|
NM_000037.4(ANK1):c.3829G>A (p.Val1277Met)
|
rs148942046
|
|
NM_000037.4(ANK1):c.4974C>T (p.Asp1658=)
|
rs149859024
|
|
NM_000037.4(ANK1):c.965G>T (p.Arg322Leu)
|
rs183864227
|
|
NM_000038.6(APC):c.*210_*213del
|
rs763673039
|
|
NM_000038.6(APC):c.2547T>C (p.Asp849=)
|
rs766086010
|
|
NM_000038.6(APC):c.4765C>G (p.Arg1589Gly)
|
rs72541813
|
|
NM_000038.6(APC):c.777G>T (p.Arg259=)
|
rs147704593
|
|
NM_000043.6(FAS):c.432C>T (p.Asp144=)
|
rs574338716
|
|
NM_000045.4(ARG1):c.804G>C (p.Gly268=)
|
rs747275658
|
|
NM_000045.4(ARG1):c.936C>T (p.His312=)
|
rs776119677
|
|
NM_000046.5(ARSB):c.1214-15A>T
|
rs1353542088
|
|
NM_000048.4(ASL):c.1395G>A (p.Ter465=)
|
rs1339615185
|
|
NM_000048.4(ASL):c.486G>A (p.Gln162=)
|
rs1786669549
|
|
NM_000051.4(ATM):c.2251-14T>A
|
rs751677125
|
|
NM_000051.4(ATM):c.2805G>C (p.Thr935=)
|
rs55934812
|
|
NM_000051.4(ATM):c.2945G>A (p.Arg982His)
|
rs749471737
|
|
NM_000051.4(ATM):c.3284+8dup
|
rs886047611
|
|
NM_000051.4(ATM):c.3352A>G (p.Thr1118Ala)
|
rs572564322
|
|
NM_000051.4(ATM):c.4299T>C (p.Tyr1433=)
|
rs886047612
|
|
NM_000051.4(ATM):c.5005+15T>A
|
rs377355762
|
|
NM_000051.4(ATM):c.6453-15C>T
|
rs763296454
|
|
NM_000053.4(ATP7B):c.2286A>T (p.Thr762=)
|
rs750477816
|
|
NM_000053.4(ATP7B):c.2976C>A (p.Pro992=)
|
rs746358240
|
|
NM_000053.4(ATP7B):c.2997C>T (p.Thr999=)
|
rs199581971
|
|
NM_000053.4(ATP7B):c.406A>G (p.Arg136Gly)
|
rs557577836
|
|
NM_000053.4(ATP7B):c.4185G>C (p.Leu1395=)
|
rs368801566
|
|
NM_000057.4(BLM):c.4251A>C (p.Ser1417=)
|
rs886051553
|
|
NM_000059.4(BRCA2):c.1247T>G (p.Ile416Ser)
|
rs80358418
|
|
NM_000059.4(BRCA2):c.1460C>A (p.Ala487Glu)
|
rs56390402
|
|
NM_000059.4(BRCA2):c.2526A>G (p.Val842=)
|
rs770778164
|
|
NM_000059.4(BRCA2):c.6237G>A (p.Val2079=)
|
rs864622516
|
|
NM_000059.4(BRCA2):c.7188G>A (p.Leu2396=)
|
rs587780871
|
|
NM_000059.4(BRCA2):c.956A>G (p.Asn319Ser)
|
rs55939572
|
|
NM_000059.4(BRCA2):c.9606G>A (p.Pro3202=)
|
rs755890067
|
|
NM_000070.3(CAPN3):c.1002C>T (p.His334=)
|
rs374833797
|
|
NM_000070.3(CAPN3):c.1227A>T (p.Thr409=)
|
rs111806046
|
|
NM_000070.3(CAPN3):c.1251G>A (p.Thr417=)
|
rs151090625
|
|
NM_000070.3(CAPN3):c.1902G>A (p.Lys634=)
|
rs2054086848
|
|
NM_000070.3(CAPN3):c.2088C>T (p.Ser696=)
|
rs867628179
|
|
NM_000070.3(CAPN3):c.618G>A (p.Glu206=)
|
rs541597520
|
|
NM_000071.3(CBS):c.1017C>T (p.Ile339=)
|
rs773933333
|
|
NM_000071.3(CBS):c.1146-6C>T
|
rs1981696579
|
|
NM_000071.3(CBS):c.612G>T (p.Val204=)
|
rs539670390
|
|
NM_000073.3(CD3G):c.243T>C (p.Pro81=)
|
rs200028255
|
|
NM_000079.4(CHRNA1):c.1248G>A (p.Ala416=)
|
rs17838545
|
|
NM_000081.4(LYST):c.10341G>A (p.Glu3447=)
|
|
|
NM_000081.4(LYST):c.10740G>A (p.Leu3580=)
|
|
|
NM_000081.4(LYST):c.11076C>T (p.Asn3692=)
|
|
|
NM_000081.4(LYST):c.11229A>G (p.Arg3743=)
|
|
|
NM_000081.4(LYST):c.1722A>G (p.Leu574=)
|
|
|
NM_000081.4(LYST):c.1725G>A (p.Ser575=)
|
|
|
NM_000081.4(LYST):c.244C>T (p.Leu82=)
|
|
|
NM_000081.4(LYST):c.3712+12T>C
|
|
|
NM_000081.4(LYST):c.372A>G (p.Leu124=)
|
|
|
NM_000081.4(LYST):c.4053A>G (p.Ser1351=)
|
|
|
NM_000081.4(LYST):c.5461-14A>T
|
|
|
NM_000081.4(LYST):c.5583T>C (p.Ile1861=)
|
|
|
NM_000081.4(LYST):c.5634+11A>G
|
|
|
NM_000081.4(LYST):c.6673C>T (p.Arg2225Cys)
|
|
|
NM_000081.4(LYST):c.6744A>G (p.Leu2248=)
|
|
|
NM_000081.4(LYST):c.8152-8G>A
|
|
|
NM_000081.4(LYST):c.8742A>G (p.Lys2914=)
|
|
|
NM_000081.4(LYST):c.9162+15A>G
|
|
|
NM_000081.4(LYST):c.9244T>C (p.Leu3082=)
|
|
|
NM_000081.4(LYST):c.9969C>T (p.His3323=)
|
|
|
NM_000081.4(LYST):c.9990G>A (p.Ala3330=)
|
|
|
NM_000088.4(COL1A1):c.*1026_*1028del
|
rs751268781
|
|
NM_000088.4(COL1A1):c.*242_*244dup
|
rs56302025
|
|
NM_000088.4(COL1A1):c.*243_*244dup
|
rs56302025
|
|
NM_000090.4(COL3A1):c.2364A>G (p.Pro788=)
|
rs886055332
|
|
NM_000090.4(COL3A1):c.2490G>A (p.Pro830=)
|
rs777361888
|
|
NM_000090.4(COL3A1):c.3165C>T (p.Val1055=)
|
rs1576471851
|
|
NM_000090.4(COL3A1):c.583-7T>C
|
rs886055330
|
|
NM_000092.5(COL4A4):c.4760C>G (p.Pro1587Arg)
|
rs190148408
|
|
NM_000098.3(CPT2):c.448A>G (p.Thr150Ala)
|
rs141505320
|
|
NM_000108.5(DLD):c.1465-7C>G
|
rs886061908
|
|
NM_000108.5(DLD):c.30C>A (p.Ser10=)
|
rs779166996
|
|
NM_000116.5(TAFAZZIN):c.504G>A (p.Lys168=)
|
rs1057515818
|
|
NM_000126.4(ETFA):c.351+12G>A
|
rs2039773989
|
|
NM_000126.4(ETFA):c.366A>G (p.Arg122=)
|
rs2039718120
|
|
NM_000126.4(ETFA):c.66C>T (p.Thr22=)
|
rs370375322
|
|
NM_000126.4(ETFA):c.882+10C>T
|
rs2039064081
|
|
NM_000130.5(F5):c.111T>A (p.Ala37=)
|
rs537081933
|
|
NM_000135.4(FANCA):c.1143G>A (p.Thr381=)
|
rs1800331
|
|
NM_000135.4(FANCA):c.1471-10C>G
|
rs368356709
|
|
NM_000135.4(FANCA):c.1518C>T (p.Leu506=)
|
rs781524409
|
|
NM_000135.4(FANCA):c.1901-9T>G
|
rs886052486
|
|
NM_000135.4(FANCA):c.2015-4G>T
|
rs373954227
|
|
NM_000135.4(FANCA):c.2316+9C>T
|
rs776301232
|
|
NM_000135.4(FANCA):c.284-9G>C
|
rs367672895
|
|
NM_000135.4(FANCA):c.3267C>T (p.Val1089=)
|
rs994416299
|
|
NM_000135.4(FANCA):c.3531G>A (p.Leu1177=)
|
rs886052482
|
|
NM_000135.4(FANCA):c.356C>G (p.Ser119Cys)
|
rs751309143
|
|
NM_000135.4(FANCA):c.377C>G (p.Thr126Arg)
|
rs139160837
|
|
NM_000135.4(FANCA):c.3825A>G (p.Ser1275=)
|
rs886052480
|
|
NM_000135.4(FANCA):c.402T>C (p.Pro134=)
|
rs745666586
|
|
NM_000135.4(FANCA):c.4056C>T (p.Ala1352=)
|
rs2062057880
|
|
NM_000135.4(FANCA):c.4128T>C (p.Val1376=)
|
rs1209384219
|
|
NM_000137.4(FAH):c.1152G>T (p.Leu384=)
|
rs886051497
|
|
NM_000137.4(FAH):c.147C>G (p.Leu49=)
|
rs886051496
|
|
NM_000137.4(FAH):c.249G>A (p.Val83=)
|
rs370095143
|
|
NM_000137.4(FAH):c.455+9T>C
|
rs531129429
|
|
NM_000137.4(FAH):c.90G>C (p.Pro30=)
|
rs202195651
|
|
NM_000138.5(FBN1):c.2031T>A (p.Ala677=)
|
rs762312642
|
|
NM_000138.5(FBN1):c.4998C>T (p.Thr1666=)
|
rs141925790
|
|
NM_000138.5(FBN1):c.5788+4C>A
|
rs577301285
|
|
NM_000138.5(FBN1):c.6801C>T (p.Asn2267=)
|
rs886051245
|
|
NM_000138.5(FBN1):c.723G>A (p.Thr241=)
|
rs757264206
|
|
NM_000138.5(FBN1):c.8011C>T (p.Leu2671=)
|
rs886051244
|
|
NM_000138.5(FBN1):c.8185A>C (p.Lys2729Gln)
|
rs370096856
|
|
NM_000141.5(FGFR2):c.110-22TC[3]
|
rs773932794
|
|
NM_000141.5(FGFR2):c.714G>A (p.Gly238=)
|
rs1276387170
|
|
NM_000143.4(FH):c.1237-50TC[21]
|
rs144131869
|
|
NM_000147.5(FUCA1):c.389+15G>C
|
rs1395597191
|
|
NM_000147.5(FUCA1):c.489T>C (p.Asp163=)
|
rs1639604269
|
|
NM_000147.5(FUCA1):c.4C>A (p.Arg2=)
|
rs2070955
|
|
NM_000151.4(G6PC1):c.230+11T>C
|
rs756151664
|
|
NM_000151.4(G6PC1):c.993G>C (p.Ala331=)
|
rs369238258
|
|
NM_000152.5(GAA):c.1076-15G>C
|
rs370414054
|
|
NM_000152.5(GAA):c.1638G>A (p.Gly546=)
|
rs1260256483
|
|
NM_000152.5(GAA):c.1734C>T (p.Thr578=)
|
rs149384771
|
|
NM_000152.5(GAA):c.1889-5C>T
|
rs794727115
|
|
NM_000152.5(GAA):c.2064C>T (p.Ser688=)
|
rs140996643
|
|
NM_000152.5(GAA):c.2790C>T (p.Pro930=)
|
rs2039418269
|
|
NM_000152.5(GAA):c.2800-9C>G
|
rs886053547
|
|
NM_000152.5(GAA):c.531C>T (p.Asn177=)
|
rs886053544
|
|
NM_000152.5(GAA):c.858+10C>T
|
rs758283022
|
|
NM_000153.4(GALC):c.329-10_329-8del
|
rs770389075
|
|
NM_000153.4(GALC):c.41C>G (p.Ala14Gly)
|
rs373587692
|
|
NM_000154.2(GALK1):c.396A>G (p.Ser132=)
|
rs766401384
|
|
NM_000154.2(GALK1):c.787C>T (p.Leu263=)
|
rs886053420
|
|
NM_000155.4(GALT):c.450T>A (p.Val150=)
|
rs886063884
|
|
NM_000158.4(GBE1):c.1842T>A (p.Ile614=)
|
rs774354874
|
|
NM_000158.4(GBE1):c.969T>C (p.Asp323=)
|
rs555689284
|
|
NM_000161.3(GCH1):c.507G>C (p.Ala169=)
|
rs150158277
|
|
NM_000162.5(GCK):c.680-14G>C
|
rs577968084
|
|
NM_000170.3(GLDC):c.1554G>C (p.Pro518=)
|
rs377219563
|
|
NM_000170.3(GLDC):c.190G>T (p.Ala64Ser)
|
rs141601131
|
|
NM_000170.3(GLDC):c.2148C>T (p.Leu716=)
|
rs367750112
|
|
NM_000170.3(GLDC):c.861+11C>G
|
rs757254927
|
|
NM_000178.4(GSS):c.1260C>G (p.Val420=)
|
rs369657861
|
|
NM_000179.3(MSH6):c.249T>G (p.Ala83=)
|
rs876658308
|
|
NM_000179.3(MSH6):c.3259C>A (p.Pro1087Thr)
|
rs63750998
|
|
NM_000181.4(GUSB):c.45G>A (p.Leu15=)
|
rs886062404
|
|
NM_000186.4(CFH):c.2956+13G>A
|
rs572034879
|
|
NM_000186.4(CFH):c.3134-5T>C
|
rs513699
|
|
NM_000186.4(CFH):c.7C>G (p.Leu3Val)
|
rs139254423
|
|
NM_000187.4(HGD):c.474G>A (p.Pro158=)
|
rs2293734
|
|
NM_000187.4(HGD):c.880-4A>G
|
rs781667761
|
|
NM_000191.3(HMGCL):c.630C>T (p.Thr210=)
|
rs886046313
|
|
NM_000191.3(HMGCL):c.708C>T (p.Asp236=)
|
rs886046312
|
|
NM_000191.3(HMGCL):c.750+14T>A
|
rs778868742
|
|
NM_000198.4(HSD3B2):c.1056C>G (p.Thr352=)
|
rs781770416
|
|
NM_000198.4(HSD3B2):c.465G>A (p.Pro155=)
|
rs114527791
|
|
NM_000199.5(SGSH):c.506+13G>T
|
rs201177560
|
|
NM_000199.5(SGSH):c.658G>T (p.Val220Leu)
|
rs150508741
|
|
NM_000199.5(SGSH):c.981G>A (p.Ser327=)
|
rs143223388
|
|
NM_000203.5(IDUA):c.1650+12T>C
|
rs1715248390
|
|
NM_000203.5(IDUA):c.1651-10C>T
|
rs548878643
|
|
NM_000203.5(IDUA):c.1651-7C>A
|
rs934115207
|
|
NM_000203.5(IDUA):c.1727+9G>T
|
rs771420258
|
|
NM_000203.5(IDUA):c.793-9C>T
|
rs375798875
|
|
NM_000203.5(IDUA):c.837C>T (p.Val279=)
|
rs758749484
|
|
NM_000211.5(ITGB2):c.1084-5C>T
|
rs781696813
|
|
NM_000211.5(ITGB2):c.1464G>A (p.Arg488=)
|
rs202051683
|
|
NM_000211.5(ITGB2):c.1944G>A (p.Pro648=)
|
rs139840790
|
|
NM_000211.5(ITGB2):c.1968C>T (p.Pro656=)
|
rs766106686
|
|
NM_000211.5(ITGB2):c.591G>A (p.Glu197=)
|
rs768833543
|
|
NM_000212.3(ITGB3):c.2328C>T (p.Ala776=)
|
rs563420692
|
|
NM_000214.3(JAG1):c.*1531TG[1]
|
rs765273169
|
|
NM_000214.3(JAG1):c.*959GTTT[2]
|
rs748163677
|
|
NM_000214.3(JAG1):c.294C>G (p.Ser98=)
|
rs79338570
|
|
NM_000215.4(JAK3):c.1786+13C>T
|
rs781208496
|
|
NM_000215.4(JAK3):c.2773C>A (p.Arg925Ser)
|
rs149452625
|
|
NM_000215.4(JAK3):c.297G>A (p.Leu99=)
|
rs3212716
|
|
NM_000215.4(JAK3):c.648G>T (p.Thr216=)
|
rs200376035
|
|
NM_000215.4(JAK3):c.938G>A (p.Gly313Glu)
|
rs200319694
|
|
NM_000218.3(KCNQ1):c.1251+13C>T
|
rs201364493
|
|
NM_000218.3(KCNQ1):c.1394-8C>T
|
rs371488379
|
|
NM_000218.3(KCNQ1):c.1986C>G (p.Tyr662Ter)
|
rs11601907
|
|
NM_000222.3(KIT):c.1185C>A (p.Ser395=)
|
rs755864184
|
|
NM_000231.3(SGCG):c.*136T>A
|
rs3751372
|
|
NM_000235.4(LIPA):c.230-15A>G
|
rs199978109
|
|
NM_000235.4(LIPA):c.615C>T (p.Ser205=)
|
rs143930279
|
|
NM_000235.4(LIPA):c.676-14T>A
|
rs886047471
|
|
NM_000243.3(MEFV):c.1522C>T (p.Leu508=)
|
rs199937453
|
|
NM_000243.3(MEFV):c.330G>A (p.Leu110=)
|
rs104895177
|
|
NM_000243.3(MEFV):c.343C>A (p.Pro115Thr)
|
rs147557169
|
|
NM_000243.3(MEFV):c.548C>T (p.Pro183Leu)
|
rs777009752
|
|
NM_000243.3(MEFV):c.564C>T (p.Pro188=)
|
rs775755423
|
|
NM_000243.3(MEFV):c.585G>A (p.Glu195=)
|
rs200766991
|
|
NM_000246.4(CIITA):c.2148C>T (p.Phe716=)
|
rs762483007
|
|
NM_000246.4(CIITA):c.2832G>T (p.Ser944=)
|
rs766538754
|
|
NM_000246.4(CIITA):c.3123G>C (p.Ser1041=)
|
rs138925894
|
|
NM_000246.4(CIITA):c.366A>T (p.Ile122=)
|
rs535705691
|
|
NM_000246.4(CIITA):c.492C>G (p.Pro164=)
|
rs142478532
|
|
NM_000249.3(MLH1):c.-107C>G
|
rs587778886
|
|
NM_000249.4(MLH1):c.1266C>T (p.Gly422=)
|
rs63750791
|
|
NM_000249.4(MLH1):c.1853A>C (p.Lys618Thr)
|
rs63750449
|
|
NM_000251.2(MSH2):c.-68G>A
|
rs576303132
|
|
NM_000254.3(MTR):c.742G>A (p.Val248Met)
|
rs142648132
|
|
NM_000257.4(MYH7):c.5394C>T (p.Asp1798=)
|
rs777053791
|
|
NM_000257.4(MYH7):c.895+12C>A
|
rs186276057
|
|
NM_000260.4(MYO7A):c.2617C>T (p.Arg873Trp)
|
rs200454015
|
|
NM_000262.3(NAGA):c.486C>G (p.Pro162=)
|
rs760003063
|
|
NM_000263.4(NAGLU):c.933C>G (p.Ala311=)
|
rs115888189
|
|
NM_000264.5(PTCH1):c.247T>C (p.Phe83Leu)
|
rs1263611523
|
|
NM_000264.5(PTCH1):c.2703+12G>A
|
rs1295275193
|
|
NM_000264.5(PTCH1):c.3765C>A (p.Ile1255=)
|
rs758229027
|
|
NM_000264.5(PTCH1):c.63C>T (p.Ile21=)
|
rs1284183739
|
|
NM_000268.4(NF2):c.150G>A (p.Val50=)
|
rs1601578932
|
|
NM_000270.4(PNP):c.159C>A (p.Ile53=)
|
rs367991537
|
|
NM_000271.5(NPC1):c.180+13T>C
|
rs556162692
|
|
NM_000271.5(NPC1):c.1947+11_1947+12insGGC
|
rs547107514
|
|
NM_000271.5(NPC1):c.1947+12G>C
|
rs886053666
|
|
NM_000271.5(NPC1):c.1947+13G>T
|
rs568769965
|
|
NM_000271.5(NPC1):c.2428G>T (p.Val810Phe)
|
rs145362908
|
|
NM_000271.5(NPC1):c.2973G>A (p.Gln991=)
|
rs201118975
|
|
NM_000271.5(NPC1):c.3321C>A (p.Gly1107=)
|
rs376210355
|
|
NM_000271.5(NPC1):c.3561G>T (p.Ala1187=)
|
rs55724504
|
|
NM_000271.5(NPC1):c.984C>T (p.Ser328=)
|
rs760861487
|
|
NM_000274.4(OAT):c.123T>C (p.Asp41=)
|
rs376051303
|
|
NM_000275.3(OCA2):c.2208G>T (p.Ser736=)
|
rs1800418
|
|
NM_000282.4(PCCA):c.1953G>A (p.Leu651=)
|
rs765771203
|
|
NM_000282.4(PCCA):c.2017G>C (p.Val673Leu)
|
rs142646074
|
|
NM_000282.4(PCCA):c.42C>T (p.Ala14=)
|
rs200714802
|
|
NM_000282.4(PCCA):c.929C>G (p.Ala310Gly)
|
rs146927771
|
|
NM_000288.4(PEX7):c.130+11G>T
|
rs886061119
|
|
NM_000288.4(PEX7):c.130+13C>A
|
rs886061120
|
|
NM_000289.6(PFKM):c.1063-7C>T
|
rs776228408
|
|
NM_000290.4(PGAM2):c.455C>T (p.Thr152Ile)
|
rs199869174
|
|
NM_000294.3(PHKG2):c.271+14C>T
|
rs572169140
|
|
NM_000294.3(PHKG2):c.556+11C>G
|
rs2053379816
|
|
NM_000294.3(PHKG2):c.96-7C>G
|
rs898984695
|
|
NM_000295.5(SERPINA1):c.1095C>T (p.Asp365=)
|
rs201774333
|
|
NM_000295.5(SERPINA1):c.514G>A (p.Gly172Arg)
|
rs112030253
|
|
NM_000295.5(SERPINA1):c.514G>T (p.Gly172Trp)
|
rs112030253
|
|
NM_000295.5(SERPINA1):c.552C>T (p.Tyr184=)
|
rs199422210
|
|
NM_000302.4(PLOD1):c.1686G>A (p.Thr562=)
|
rs565216977
|
|
NM_000302.4(PLOD1):c.169-11T>C
|
rs760584840
|
|
NM_000303.3(PMM2):c.347+15A>C
|
rs751222355
|
|
NM_000303.3(PMM2):c.552T>C (p.Pro184=)
|
rs560182098
|
|
NM_000308.4(CTSA):c.54G>C (p.Leu18=)
|
rs181943893
|
|
NM_000310.4(PPT1):c.234+8G>A
|
rs746750426
|
|
NM_000310.4(PPT1):c.690C>T (p.Phe230=)
|
rs1648754113
|
|
NM_000310.4(PPT1):c.705T>C (p.Ile235=)
|
rs1057515448
|
|
NM_000310.4(PPT1):c.894T>C (p.Tyr298=)
|
rs781759073
|
|
NM_000314.8(PTEN):c.-735G>A
|
rs886047384
|
|
NM_000314.8(PTEN):c.210-7_210-3del
|
rs587780544
|
|
NM_000320.3(QDPR):c.296-15G>T
|
rs776479029
|
|
NM_000320.3(QDPR):c.297T>C (p.Ser99=)
|
rs1309099253
|
|
NM_000321.3(RB1):c.1422-4T>G
|
rs201554179
|
|
NM_000321.3(RB1):c.616T>C (p.Leu206=)
|
rs886050270
|
|
NM_000334.4(SCN4A):c.1560G>C (p.Pro520=)
|
rs373819078
|
|
NM_000340.2(SLC2A2):c.593C>T (p.Thr198Met)
|
rs149460434
|
|
NM_000341.4(SLC3A1):c.1200A>G (p.Pro400=)
|
rs886056069
|
|
NM_000349.3(STAR):c.120G>A (p.Leu40=)
|
rs138786388
|
|
NM_000350.3(ABCA4):c.1356+14dup
|
rs886046567
|
|
NM_000350.3(ABCA4):c.1460G>A (p.Arg487Gln)
|
rs145614671
|
|
NM_000350.3(ABCA4):c.4611G>A (p.Thr1537=)
|
rs138475920
|
|
NM_000350.3(ABCA4):c.468C>T (p.Ile156=)
|
rs148091207
|
|
NM_000350.3(ABCA4):c.5640T>A (p.Phe1880Leu)
|
rs374811709
|
|
NM_000350.3(ABCA4):c.618C>T (p.Ser206=)
|
rs61748536
|
|
NM_000350.3(ABCA4):c.6498C>T (p.Ile2166=)
|
rs61751379
|
|
NM_000350.3(ABCA4):c.6693C>T (p.Ile2231=)
|
rs1801626
|
|
NM_000350.3(ABCA4):c.677G>A (p.Arg226His)
|
rs144310835
|
|
NM_000350.3(ABCA4):c.791G>A (p.Arg264His)
|
rs567985213
|
|
NM_000353.3(TAT):c.558C>T (p.Tyr186=)
|
rs886052274
|
|
NM_000355.4(TCN2):c.1092G>A (p.Glu364=)
|
rs886057397
|
|
NM_000355.4(TCN2):c.581-8A>G
|
rs7290898
|
|
NM_000355.4(TCN2):c.810G>T (p.Ala270=)
|
rs61748898
|
|
NM_000360.4(TH):c.1105-5C>G
|
rs535794692
|
|
NM_000360.4(TH):c.1119G>A (p.Thr373=)
|
rs143405115
|
|
NM_000360.4(TH):c.1170C>G (p.Ala390=)
|
rs199839852
|
|
NM_000360.4(TH):c.1287A>C (p.Ser429=)
|
rs1590165106
|
|
NM_000360.4(TH):c.202C>T (p.Leu68=)
|
rs372393199
|
|
NM_000360.4(TH):c.81G>T (p.Glu27Asp)
|
rs139742336
|
|
NM_000363.5(TNNI3):c.12-7del
|
rs370714315
|
|
NM_000363.5(TNNI3):c.157C>T (p.Leu53=)
|
rs763981651
|
|
NM_000368.5(TSC1):c.1734C>T (p.Thr578=)
|
rs1251871091
|
|
NM_000368.5(TSC1):c.1751G>C (p.Ser584Thr)
|
rs786203799
|
|
NM_000368.5(TSC1):c.2459A>G (p.Lys820Arg)
|
rs1369700443
|
|
NM_000368.5(TSC1):c.2626-21_2626-19dup
|
rs5901000
|
|
NM_000368.5(TSC1):c.519G>A (p.Ala173=)
|
rs768999400
|
|
NM_000370.3(TTPA):c.36G>T (p.Pro12=)
|
rs773911591
|
|
NM_000387.6(SLC25A20):c.105+7_105+10dup
|
rs775942451
|
|
NM_000391.3(TPP1):c.-33C>G
|
rs757508432
|
|
NM_000391.4(TPP1):c.*1216dup
|
rs575737269
|
|
NM_000391.4(TPP1):c.887-6_887-5del
|
rs886048541
|
|
NM_000391.4(TPP1):c.887-6del
|
rs35039601
|
|
NM_000417.3(IL2RA):c.257-11A>G
|
rs929482812
|
|
NM_000417.3(IL2RA):c.777C>A (p.Leu259=)
|
rs554680869
|
|
NM_000419.5(ITGA2B):c.1014G>A (p.Leu338=)
|
rs886053007
|
|
NM_000426.4(LAMA2):c.4222C>G (p.Arg1408Gly)
|
rs780127363
|
|
NM_000426.4(LAMA2):c.9340G>A (p.Val3114Ile)
|
rs200796753
|
|
NM_000432.4(MYL2):c.402+8G>T
|
rs886048959
|
|
NM_000433.4(NCF2):c.1291-15C>G
|
rs886045654
|
|
NM_000435.3(NOTCH3):c.120C>T (p.Ala40=)
|
rs146904189
|
|
NM_000439.5(PCSK1):c.-96C>T
|
rs35753085
|
|
NM_000441.2(SLC26A4):c.2320-4A>G
|
rs727503432
|
|
NM_000441.2(SLC26A4):c.486C>T (p.Leu162=)
|
rs370020280
|
|
NM_000455.5(STK11):c.464+14G>A
|
rs587782421
|
|
NM_000455.5(STK11):c.618G>C (p.Ala206=)
|
rs370976710
|
|
NM_000455.5(STK11):c.69C>T (p.Asp23=)
|
rs1599914867
|
|
NM_000455.5(STK11):c.942T>C (p.Pro314=)
|
rs1256260277
|
|
NM_000465.4(BARD1):c.*135_*138dup
|
rs113789798
|
|
NM_000465.4(BARD1):c.215+13G>A
|
rs886055601
|
|
NM_000465.4(BARD1):c.216-14T>C
|
rs775103922
|
|
NM_000465.4(BARD1):c.45C>A (p.Arg15=)
|
rs786201402
|
|
NM_000465.4(BARD1):c.903G>A (p.Glu301=)
|
rs1694982551
|
|
NM_000465.4(BARD1):c.93C>G (p.Arg31=)
|
rs778803692
|
|
NM_000466.3(PEX1):c.129+10C>T
|
rs886062508
|
|
NM_000466.3(PEX1):c.1380A>C (p.Glu460Asp)
|
rs565049190
|
|
NM_000466.3(PEX1):c.1804-12A>G
|
rs143041528
|
|
NM_000466.3(PEX1):c.1901-14T>C
|
rs1792111444
|
|
NM_000466.3(PEX1):c.3627C>T (p.Ser1209=)
|
rs886062501
|
|
NM_000466.3(PEX1):c.468A>G (p.Gln156=)
|
rs149729088
|
|
NM_000466.3(PEX1):c.96G>A (p.Pro32=)
|
rs1445565547
|
|
NM_000478.6(ALPL):c.1557C>A (p.Pro519=)
|
rs376020180
|
|
NM_000481.4(AMT):c.1112G>A (p.Arg371His)
|
rs147006017
|
|
NM_000484.4(APP):c.819CAC[8] (p.Thr280dup)
|
rs527890624
|
|
NM_000487.6(ARSA):c.1210+13C>T
|
rs6151426
|
|
NM_000492.4(CFTR):c.1265C>T (p.Ser422Phe)
|
rs201880593
|
|
NM_000492.4(CFTR):c.1365G>T (p.Ala455=)
|
rs79074685
|
|
NM_000492.4(CFTR):c.1684G>A (p.Val562Ile)
|
rs1800097
|
|
NM_000492.4(CFTR):c.3485G>T (p.Arg1162Leu)
|
rs1800120
|
|
NM_000501.4(ELN):c.483C>A (p.Pro161=)
|
rs150690195
|
|
NM_000506.5(F2):c.45G>A (p.Leu15=)
|
rs886048333
|
|
NM_000507.4(FBP1):c.826-15G>T
|
rs148942437
|
|
NM_000507.4(FBP1):c.826-7T>C
|
rs1827646865
|
|
NM_000507.4(FBP1):c.835C>T (p.Leu279=)
|
rs760291471
|
|
NM_000512.5(GALNS):c.1140-15C>T
|
rs1910644710
|
|
NM_000512.5(GALNS):c.1410G>A (p.Ser470=)
|
rs763263800
|
|
NM_000515.5(GH1):c.16C>A (p.Arg6=)
|
rs140576665
|
|
NM_000515.5(GH1):c.363T>C (p.Ser121=)
|
rs137882374
|
|
NM_000518.5(HBB):c.402G>C (p.Val134=)
|
rs113082294
|
|
NM_000520.6(HEXA):c.1421+15G>C
|
rs185764548
|
|
NM_000521.4(HEXB):c.1613+14del
|
rs754704434
|
|
NM_000521.4(HEXB):c.670-14_670-13del
|
rs886060751
|
|
NM_000525.4(KCNJ11):c.-559G>C
|
rs547932593
|
|
NM_000527.4(LDLR):c.-97G>T
|
rs944580031
|
|
NM_000527.5(LDLR):c.1706-10G>A
|
|
|
NM_000527.5(LDLR):c.1836C>T (p.Ala612=)
|
rs143872778
|
|
NM_000527.5(LDLR):c.1863A>G (p.Thr621=)
|
rs768509914
|
|
NM_000527.5(LDLR):c.1876G>A (p.Glu626Lys)
|
|
|
NM_000527.5(LDLR):c.191-15C>G
|
rs749245318
|
|
NM_000527.5(LDLR):c.2140+14C>T
|
rs756150298
|
|
NM_000527.5(LDLR):c.2242G>A (p.Asp748Asn)
|
rs150104358
|
|
NM_000527.5(LDLR):c.2389+7G>A
|
|
|
NM_000527.5(LDLR):c.2479G>A (p.Val827Ile)
|
rs137853964
|
|
NM_000527.5(LDLR):c.806G>A (p.Gly269Asp)
|
|
|
NM_000527.5(LDLR):c.817+9T>C
|
|
|
NM_000528.4(MAN2B1):c.1068C>T (p.Pro356=)
|
rs117880912
|
|
NM_000528.4(MAN2B1):c.1167C>T (p.Thr389=)
|
rs762375074
|
|
NM_000528.4(MAN2B1):c.1383C>T (p.Tyr461=)
|
rs775200333
|
|
NM_000528.4(MAN2B1):c.1398G>A (p.Ala466=)
|
rs774396746
|
|
NM_000528.4(MAN2B1):c.2267+8dup
|
rs572289342
|
|
NM_000528.4(MAN2B1):c.285C>T (p.Ala95=)
|
rs750997069
|
|
NM_000528.4(MAN2B1):c.2865G>A (p.Thr955=)
|
rs148108322
|
|
NM_000528.4(MAN2B1):c.2883C>A (p.Leu961=)
|
rs1376771729
|
|
NM_000528.4(MAN2B1):c.2991C>T (p.Ile997=)
|
rs886054228
|
|
NM_000528.4(MAN2B1):c.639C>T (p.Phe213=)
|
rs886054233
|
|
NM_000532.5(PCCB):c.1452A>G (p.Ala484=)
|
rs781556055
|
|
NM_000532.5(PCCB):c.555G>C (p.Thr185=)
|
rs543691110
|
|
NM_000536.4(RAG2):c.1391G>A (p.Arg464His)
|
rs147748696
|
|
NM_000540.3(RYR1):c.10263G>A (p.Ala3421=)
|
rs778171066
|
|
NM_000540.3(RYR1):c.10803C>A (p.Ala3601=)
|
rs141542477
|
|
NM_000540.3(RYR1):c.10824+13G>A
|
rs756468318
|
|
NM_000540.3(RYR1):c.11292C>T (p.Tyr3764=)
|
rs886054401
|
|
NM_000540.3(RYR1):c.11907+8G>A
|
rs886054402
|
|
NM_000540.3(RYR1):c.12084G>T (p.Ser4028=)
|
rs571477269
|
|
NM_000540.3(RYR1):c.12860_12869delinsT (p.Ala4287_Ala4290delinsVal)
|
rs796065337
|
|
NM_000540.3(RYR1):c.12954G>A (p.Arg4318=)
|
rs886054405
|
|
NM_000540.3(RYR1):c.13038T>C (p.Ala4346=)
|
rs758223017
|
|
NM_000540.3(RYR1):c.13551C>T (p.Pro4517=)
|
rs886054410
|
|
NM_000540.3(RYR1):c.1441-12T>C
|
rs760987340
|
|
NM_000540.3(RYR1):c.3420C>G (p.Arg1140=)
|
rs201599911
|
|
NM_000540.3(RYR1):c.3420C>T (p.Arg1140=)
|
rs201599911
|
|
NM_000540.3(RYR1):c.4266C>T (p.Asp1422=)
|
rs886054385
|
|
NM_000540.3(RYR1):c.4269C>G (p.Pro1423=)
|
rs2229141
|
|
NM_000540.3(RYR1):c.4269C>T (p.Pro1423=)
|
rs2229141
|
|
NM_000540.3(RYR1):c.4878C>T (p.Ala1626=)
|
rs369466056
|
|
NM_000540.3(RYR1):c.5025G>C (p.Leu1675=)
|
rs886054388
|
|
NM_000540.3(RYR1):c.537+12C>A
|
rs779869638
|
|
NM_000540.3(RYR1):c.6023T>C (p.Met2008Thr)
|
rs199947661
|
|
NM_000540.3(RYR1):c.7028-11C>G
|
rs369342449
|
|
NM_000540.3(RYR1):c.7053T>C (p.Asn2351=)
|
rs748167551
|
|
NM_000540.3(RYR1):c.7140C>T (p.Ile2380=)
|
rs573431795
|
|
NM_000540.3(RYR1):c.7743T>C (p.Ser2581=)
|
rs1477392994
|
|
NM_000540.3(RYR1):c.7836-6C>T
|
rs780269941
|
|
NM_000540.3(RYR1):c.7878G>C (p.Leu2626=)
|
rs148907377
|
|
NM_000540.3(RYR1):c.7927-7C>T
|
rs886054395
|
|
NM_000540.3(RYR1):c.9513T>C (p.Ser3171=)
|
rs1568524980
|
|
NM_000540.3(RYR1):c.9885C>G (p.Ala3295=)
|
rs776468955
|
|
NM_000546.6(TP53):c.1093C>T (p.His365Tyr)
|
rs267605075
|
|
NM_000546.6(TP53):c.145G>C (p.Asp49His)
|
rs587780728
|
|
NM_000546.6(TP53):c.31G>C (p.Glu11Gln)
|
rs201382018
|
|
NM_000546.6(TP53):c.993+8G>A
|
rs1060504163
|
|
NM_000553.6(WRN):c.210-8C>T
|
rs1812609160
|
|
NM_000553.6(WRN):c.2166T>C (p.Asn722=)
|
rs1334120731
|
|
NM_000553.6(WRN):c.2338G>A (p.Val780Ile)
|
rs574787451
|
|
NM_000553.6(WRN):c.3078A>G (p.Gly1026=)
|
rs886062892
|
|
NM_000553.6(WRN):c.3582G>A (p.Thr1194=)
|
rs762685242
|
|
NM_000553.6(WRN):c.3819+14T>C
|
rs886062894
|
|
NM_000553.6(WRN):c.3972C>T (p.Pro1324=)
|
rs370253199
|
|
NM_000628.5(IL10RB):c.332-11C>T
|
rs531765635
|
|
NM_000642.3(AGL):c.1326A>G (p.Glu442=)
|
rs886044919
|
|
NM_000642.3(AGL):c.344T>C (p.Val115Ala)
|
rs567992352
|
|
NM_000709.4(BCKDHA):c.441C>G (p.Ala147=)
|
rs2039284438
|
|
NM_000709.4(BCKDHA):c.995+8C>T
|
rs886054462
|
|
NM_000732.6(CD3D):c.450+7G>T
|
rs201810356
|
|
NM_000733.4(CD3E):c.211G>C (p.Asp71His)
|
rs148647954
|
|
NM_000751.3(CHRND):c.1455A>G (p.Thr485=)
|
rs756537437
|
|
NM_000784.4(CYP27A1):c.309G>A (p.Gln103=)
|
rs1306558952
|
|
NM_000784.4(CYP27A1):c.491G>A (p.Arg164Gln)
|
rs148417330
|
|
NM_000806.5(GABRA1):c.-438del
|
rs112361424
|
|
NM_000806.5(GABRA1):c.-442dup
|
rs201310567
|
|
NM_000925.4(PDHB):c.249T>C (p.Ile83=)
|
rs886058779
|
|
NM_000925.4(PDHB):c.96+12G>A
|
rs773433623
|
|
NM_001005242.3(PKP2):c.2299C>A (p.Arg767Ser)
|
rs139734328
|
|
NM_001005242.3(PKP2):c.2445+11G>T
|
rs1356336963
|
|
NM_001005361.3(DNM2):c.1372C>A (p.Arg458=)
|
rs745748213
|
|
NM_001005361.3(DNM2):c.625C>T (p.Leu209=)
|
rs927749691
|
|
NM_001005373.4(LRSAM1):c.1035C>T (p.Asp345=)
|
rs766701971
|
|
NM_001005373.4(LRSAM1):c.2115C>T (p.Thr705=)
|
rs1410005477
|
|
NM_001008216.2(GALE):c.330C>T (p.Thr110=)
|
rs377557637
|
|
NM_001008216.2(GALE):c.450G>A (p.Thr150=)
|
rs566884215
|
|
NM_001008216.2(GALE):c.989-13C>T
|
rs199622680
|
|
NM_001015878.2(AURKC):c.-99dup
|
rs74179426
|
|
NM_001025603.2(RFX5):c.859-15C>T
|
rs377295214
|
|
NM_001029896.2(WDR45):c.5C>T (p.Thr2Ile)
|
rs2147817901
|
|
NM_001031710.3(KLHL7):c.443-10_443-9del
|
rs774048435
|
|
NM_001035.3(RYR2):c.11427G>A (p.Glu3809=)
|
rs553350678
|
|
NM_001035.3(RYR2):c.2910C>T (p.Tyr970=)
|
rs575899061
|
|
NM_001035.3(RYR2):c.3766C>A (p.Pro1256Thr)
|
rs769729405
|
|
NM_001035.3(RYR2):c.4734C>T (p.Pro1578=)
|
rs201880756
|
|
NM_001035.3(RYR2):c.7035A>T (p.Ala2345=)
|
rs1681182291
|
|
NM_001035.3(RYR2):c.7233C>A (p.Ala2411=)
|
rs367994477
|
|
NM_001035.3(RYR2):c.7599T>C (p.Pro2533=)
|
rs886046274
|
|
NM_001035.3(RYR2):c.9129-7T>C
|
rs1466669135
|
|
NM_001035.3(RYR2):c.9318T>A (p.Ser3106=)
|
rs2797436
|
|
NM_001035.3(RYR2):c.9601G>A (p.Val3201Met)
|
rs762549821
|
|
NM_001039958.2(MESP2):c.957G>A (p.Ser319=)
|
rs752665246
|
|
NM_001040108.2(MLH3):c.4239A>G (p.Lys1413=)
|
rs975447813
|
|
NM_001040436.3(YARS2):c.*62G>A
|
rs527443669
|
|
NM_001040436.3(YARS2):c.930G>A (p.Pro310=)
|
rs147551647
|
|
NM_001040716.2(PC):c.1023-14C>A
|
rs111858832
|
|
NM_001040716.2(PC):c.2019C>A (p.Val673=)
|
rs1591119887
|
|
NM_001040716.2(PC):c.2719-5_2719-3del
|
rs566558597
|
|
NM_001040716.2(PC):c.3399G>A (p.Lys1133=)
|
rs776825183
|
|
NM_001040716.2(PC):c.3531C>T (p.Ile1177=)
|
rs144982348
|
|
NM_001042432.2(CLN3):c.1210C>A (p.His404Asn)
|
rs146610181
|
|
NM_001042492.3(NF1):c.1846-8T>A
|
rs886052799
|
|
NM_001042492.3(NF1):c.1866T>C (p.Cys622=)
|
rs753245823
|
|
NM_001042492.3(NF1):c.2409+15T>C
|
rs2067039946
|
|
NM_001042492.3(NF1):c.3213A>G (p.Ala1071=)
|
rs786202077
|
|
NM_001042492.3(NF1):c.4530A>G (p.Leu1510=)
|
rs876660089
|
|
NM_001042492.3(NF1):c.6555G>A (p.Arg2185=)
|
rs786203189
|
|
NM_001042492.3(NF1):c.6630G>A (p.Leu2210=)
|
rs886052801
|
|
NM_001042492.3(NF1):c.7246C>T (p.Leu2416=)
|
rs786201310
|
|
NM_001048174.2(MUTYH):c.1053G>A (p.Gln351=)
|
rs886046366
|
|
NM_001048174.2(MUTYH):c.1393-11T>G
|
rs868701952
|
|
NM_001048174.2(MUTYH):c.305-4C>G
|
rs767717597
|
|
NM_001065.4(TNFRSF1A):c.1083C>T (p.Ala361=)
|
rs746923911
|
|
NM_001065.4(TNFRSF1A):c.472+7G>T
|
rs200194581
|
|
NM_001079802.2(FKTN):c.*5303dup
|
rs879263714
|
|
NM_001080467.3(MYO5B):c.2004-11_2004-10del
|
rs771242570
|
|
NM_001082971.2(DDC):c.1041+12A>T
|
rs2042651349
|
|
NM_001082971.2(DDC):c.316-5G>C
|
rs2044474558
|
|
NM_001082971.2(DDC):c.436-6A>G
|
rs770694855
|
|
NM_001083116.3(PRF1):c.132C>A (p.Ala44=)
|
rs181323749
|
|
NM_001083116.3(PRF1):c.519G>A (p.Thr173=)
|
rs112883709
|
|
NM_001083961.2(WDR62):c.1233+15del
|
rs373693641
|
|
NM_001083961.2(WDR62):c.1233+15dup
|
rs373693641
|
|
NM_001083962.2(TCF4):c.939G>A (p.Gly313=)
|
rs1470608351
|
|
NM_001083962.2(TCF4):c.990+12T>A
|
rs144346949
|
|
NM_001089.3(ABCA3):c.1465A>T (p.Met489Leu)
|
rs150543946
|
|
NM_001089.3(ABCA3):c.1502C>A (p.Ala501Glu)
|
rs141621969
|
|
NM_001100.4(ACTA1):c.108C>T (p.Ile36=)
|
rs143948837
|
|
NM_001100.4(ACTA1):c.1128C>T (p.Cys376=)
|
rs1659932688
|
|
NM_001101362.3(KBTBD13):c.162C>T (p.Ser54=)
|
rs1162054356
|
|
NM_001101362.3(KBTBD13):c.309G>C (p.Ser103=)
|
rs760134475
|
|
NM_001101426.4(CRPPA):c.360C>G (p.Val120=)
|
rs183141256
|
|
NM_001101426.4(CRPPA):c.360C>T (p.Val120=)
|
rs183141256
|
|
NM_001113378.2(FANCI):c.669+17_669+18del
|
rs751881445
|
|
NM_001114753.3(ENG):c.220-6C>A
|
rs756342212
|
|
NM_001122659.3(EDNRB):c.778G>A (p.Val260Ile)
|
rs77132068
|
|
NM_001122752.2(SERPINI1):c.1067-6C>T
|
rs759360650
|
|
NM_001122769.3(LCA5):c.1769A>G (p.Asp590Gly)
|
rs771460783
|
|
NM_001126108.2(SLC12A3):c.1176C>A (p.Thr392=)
|
rs117440321
|
|
NM_001126108.2(SLC12A3):c.2563A>C (p.Arg855=)
|
rs191194366
|
|
NM_001126108.2(SLC12A3):c.741+8C>T
|
rs200257610
|
|
NM_001127453.2(GSDME):c.1274ATG[1] (p.Asp426del)
|
rs374353052
|
|
NM_001127644.2(GABRA1):c.*304del
|
rs547262225
|
|
NM_001127644.2(GABRA1):c.-117GACTCG[3]
|
rs527890421
|
|
NM_001127671.2(LIFR):c.1245G>A (p.Pro415=)
|
rs139809889
|
|
NM_001128425.2(MUTYH):c.192C>T (p.Ala64=)
|
rs760321509
|
|
NM_001130823.3(DNMT1):c.1171-7C>T
|
rs1168540279
|
|
NM_001130987.2(DYSF):c.1215C>T (p.Gly405=)
|
rs754820811
|
|
NM_001130987.2(DYSF):c.1374G>T (p.Gly458=)
|
rs771092045
|
|
NM_001130987.2(DYSF):c.1799G>T (p.Arg600Leu)
|
rs546679270
|
|
NM_001130987.2(DYSF):c.1944G>A (p.Pro648=)
|
rs115849497
|
|
NM_001130987.2(DYSF):c.1985-15G>A
|
rs146407633
|
|
NM_001130987.2(DYSF):c.2093G>T (p.Gly698Val)
|
rs770228554
|
|
NM_001130987.2(DYSF):c.3072T>A (p.Ala1024=)
|
rs2092344930
|
|
NM_001130987.2(DYSF):c.3588C>T (p.Ile1196=)
|
rs79899601
|
|
NM_001130987.2(DYSF):c.3678C>G (p.Ile1226Met)
|
rs148858485
|
|
NM_001130987.2(DYSF):c.3678C>T (p.Ile1226=)
|
rs148858485
|
|
NM_001130987.2(DYSF):c.378G>T (p.Pro126=)
|
rs377056951
|
|
NM_001130987.2(DYSF):c.431C>A (p.Pro144Gln)
|
rs139654844
|
|
NM_001130987.2(DYSF):c.4461C>T (p.Ile1487=)
|
rs751456837
|
|
NM_001130987.2(DYSF):c.5784+10C>T
|
rs758268866
|
|
NM_001130987.2(DYSF):c.603G>A (p.Glu201=)
|
rs765064954
|
|
NM_001130987.2(DYSF):c.605C>T (p.Ala202Val)
|
rs34999029
|
|
NM_001134363.3(RBM20):c.125AGC[3] (p.Gln43dup)
|
rs397516593
|
|
NM_001134363.3(RBM20):c.1356A>T (p.Ile452=)
|
rs745544964
|
|
NM_001134363.3(RBM20):c.1880+4_1880+6dup
|
rs397516597
|
|
NM_001134363.3(RBM20):c.201G>A (p.Lys67=)
|
rs752370319
|
|
NM_001134363.3(RBM20):c.2213C>T (p.Pro738Leu)
|
rs397516601
|
|
NM_001134363.3(RBM20):c.3584C>A (p.Ser1195Tyr)
|
rs753102653
|
|
NM_001134363.3(RBM20):c.785C>G (p.Thr262Ser)
|
rs758718732
|
|
NM_001134407.3(GRIN2A):c.2049G>C (p.Gly683=)
|
rs1057523027
|
|
NM_001134407.3(GRIN2A):c.3668C>G (p.Thr1223Ser)
|
rs770966136
|
|
NM_001134407.3(GRIN2A):c.3854G>T (p.Arg1285Met)
|
rs367543132
|
|
NM_001143979.2(NDE1):c.-165-12_-165-9del
|
rs757466932
|
|
NM_001160372.4(TRAPPC9):c.1326G>A (p.Ser442=)
|
rs145960296
|
|
NM_001160372.4(TRAPPC9):c.2279-11del
|
rs758850777
|
|
NM_001160372.4(TRAPPC9):c.2475G>A (p.Arg825=)
|
rs756688439
|
|
NM_001164508.2(NEB):c.11563G>A (p.Val3855Ile)
|
rs542092706
|
|
NM_001164508.2(NEB):c.11602-13A>T
|
rs886054941
|
|
NM_001164508.2(NEB):c.1227C>G (p.Leu409=)
|
rs371658494
|
|
NM_001164508.2(NEB):c.17931T>C (p.Phe5977=)
|
rs886054938
|
|
NM_001164508.2(NEB):c.18064A>G (p.Ile6022Val)
|
rs574746662
|
|
NM_001164508.2(NEB):c.18579+15T>C
|
rs2096234308
|
|
NM_001164508.2(NEB):c.19137C>T (p.Asp6379=)
|
rs778962225
|
|
NM_001164508.2(NEB):c.19397G>A (p.Arg6466Gln)
|
rs747425038
|
|
NM_001164508.2(NEB):c.19428+8C>A
|
rs773614835
|
|
NM_001164508.2(NEB):c.20467-5_20467-4dup
|
rs10687343
|
|
NM_001164508.2(NEB):c.20467-6_20467-4dup
|
rs10687343
|
|
NM_001164508.2(NEB):c.20578-6G>A
|
rs376710012
|
|
NM_001164508.2(NEB):c.2155C>T (p.Pro719Ser)
|
rs376503299
|
|
NM_001164508.2(NEB):c.21588C>T (p.Pro7196=)
|
rs2090436424
|
|
NM_001164508.2(NEB):c.22677A>T (p.Thr7559=)
|
rs778662915
|
|
NM_001164508.2(NEB):c.426T>A (p.Asp142Glu)
|
rs200590080
|
|
NM_001164508.2(NEB):c.5680A>G (p.Arg1894Gly)
|
rs150961139
|
|
NM_001164508.2(NEB):c.585C>G (p.Ala195=)
|
rs374538366
|
|
NM_001164508.2(NEB):c.7176T>C (p.Pro2392=)
|
rs1042667385
|
|
NM_001164508.2(NEB):c.7865T>G (p.Val2622Gly)
|
rs563691738
|
|
NM_001164688.2(RD3):c.468C>T (p.Arg156=)
|
rs148189077
|
|
NM_001166114.2(PNPLA6):c.1608+11C>T
|
rs368627125
|
|
NM_001166114.2(PNPLA6):c.1770A>G (p.Gln590=)
|
rs780340075
|
|
NM_001166114.2(PNPLA6):c.2937-4G>A
|
rs1178206789
|
|
NM_001166114.2(PNPLA6):c.306T>A (p.Ile102=)
|
rs554346890
|
|
NM_001166114.2(PNPLA6):c.3726G>A (p.Ala1242=)
|
rs146121276
|
|
NM_001166114.2(PNPLA6):c.3882C>G (p.Pro1294=)
|
rs202070445
|
|
NM_001182.5(ALDH7A1):c.1536C>T (p.Ala512=)
|
rs1015790945
|
|
NM_001182.5(ALDH7A1):c.201G>T (p.Thr67=)
|
rs747643987
|
|
NM_001182.5(ALDH7A1):c.423G>C (p.Val141=)
|
rs199653162
|
|
NM_001191061.2(SLC25A22):c.-72TCCACC[4]
|
rs145401722
|
|
NM_001199397.3(NEK1):c.2161C>T (p.Arg721Trp)
|
rs201726561
|
|
NM_001199397.3(NEK1):c.2974+11T>C
|
rs886059229
|
|
NM_001199397.3(NEK1):c.3141G>A (p.Ser1047=)
|
rs190807750
|
|
NM_001199397.3(NEK1):c.3289G>A (p.Val1097Ile)
|
rs374890006
|
|
NM_001232.4(CASQ2):c.421-15C>G
|
rs199939582
|
|
NM_001235.5(SERPINH1):c.346C>A (p.Arg116Ser)
|
rs200265134
|
|
NM_001242957.3(MAK):c.1815T>C (p.Thr605=)
|
rs570463236
|
|
NM_001244008.2(KIF1A):c.5064G>A (p.Pro1688=)
|
rs527977882
|
|
NM_001256317.3(TMPRSS3):c.1192-8T>C
|
rs751114709
|
|
NM_001256317.3(TMPRSS3):c.497G>T (p.Arg166Leu)
|
rs150397427
|
|
NM_001256545.2(MEGF10):c.1673G>T (p.Arg558Leu)
|
rs182243856
|
|
NM_001256545.2(MEGF10):c.954T>C (p.Val318=)
|
rs1580833127
|
|
NM_001267550.2(TTN):c.100172-17dup
|
rs397517782
|
|
NM_001267550.2(TTN):c.26762-39TTTGT[11]
|
rs71393436
|
|
NM_001267550.2(TTN):c.26762-39TTTGT[9]
|
rs71393436
|
|
NM_001267550.2(TTN):c.34241AAG[2] (p.Glu11416del)
|
rs397517549
|
|
NM_001267550.2(TTN):c.40408+8del
|
rs727504922
|
|
NM_001267550.2(TTN):c.40576GAA[3] (p.Glu13529del)
|
rs727504199
|
|
NM_001267550.2(TTN):c.46065G>C (p.Lys15355Asn)
|
rs397517583
|
|
NM_001267550.2(TTN):c.915-7dup
|
rs730880351
|
|
NM_001267550.2(TTN):c.99830G>A (p.Gly33277Glu)
|
rs397517781
|
|
NM_001276345.2(TNNT2):c.270C>G (p.Pro90=)
|
rs140245123
|
|
NM_001277115.2(DNAH11):c.10573T>C (p.Leu3525=)
|
rs886062182
|
|
NM_001277115.2(DNAH11):c.13176G>A (p.Thr4392=)
|
rs79449551
|
|
NM_001277115.2(DNAH11):c.180C>T (p.Arg60=)
|
rs781089233
|
|
NM_001277115.2(DNAH11):c.447A>G (p.Gly149=)
|
rs886062170
|
|
NM_001277115.2(DNAH11):c.5157A>G (p.Thr1719=)
|
rs149538783
|
|
NM_001277115.2(DNAH11):c.6273+9A>G
|
rs192777767
|
|
NM_001277115.2(DNAH11):c.6594G>A (p.Pro2198=)
|
rs200894470
|
|
NM_001277115.2(DNAH11):c.8023A>G (p.Ile2675Val)
|
rs72657364
|
|
NM_001277115.2(DNAH11):c.8511-15G>A
|
rs111471486
|
|
NM_001277115.2(DNAH11):c.9312A>G (p.Gln3104=)
|
rs886062181
|
|
NM_001330078.2(NRXN1):c.543G>A (p.Lys181=)
|
rs1670775186
|
|
NM_001349338.3(FOXP1):c.*1669dup
|
rs886058842
|
|
NM_001349338.3(FOXP1):c.*3192del
|
rs535202716
|
|
NM_001349338.3(FOXP1):c.*3391TG[10]
|
rs143202281
|
|
NM_001352514.2(HLCS):c.1977G>A (p.Val659=)
|
rs886057075
|
|
NM_001352514.2(HLCS):c.2418C>T (p.Val806=)
|
rs759416272
|
|
NM_001355436.2(SPTB):c.228C>G (p.Thr76=)
|
rs748108358
|
|
NM_001355436.2(SPTB):c.2656G>T (p.Val886Leu)
|
rs146031194
|
|
NM_001358530.2(MOCS1):c.301C>T (p.Leu101=)
|
rs111640560
|
|
NM_001358530.2(MOCS1):c.339C>T (p.Leu113=)
|
rs762810343
|
|
NM_001360.3(DHCR7):c.1273G>A (p.Gly425Ser)
|
rs760242
|
|
NM_001360.3(DHCR7):c.231C>G (p.Thr77=)
|
rs4316537
|
|
NM_001360.3(DHCR7):c.70G>T (p.Ala24Ser)
|
rs146867923
|
|
NM_001360.3(DHCR7):c.906C>T (p.Phe302=)
|
rs80338858
|
|
NM_001365088.1(SLC12A6):c.1551G>A (p.Pro517=)
|
rs17236798
|
|
NM_001365088.1(SLC12A6):c.411+10del
|
rs377536268
|
|
NM_001365951.3(KIF1B):c.883-10_883-7del
|
rs886044975
|
|
NM_001366722.1(GRIP1):c.*1261dup
|
rs35499444
|
|
NM_001367624.2(ZNF469):c.4529TGC[1] (p.Leu1511del)
|
rs555544144
|
|
NM_001368067.1(LDB3):c.456G>T (p.Ala152=)
|
rs371708921
|
|
NM_001369.3(DNAH5):c.5272-15dup
|
rs35337694
|
|
NM_001369369.1(FOXN1):c.123+10C>T
|
rs575898161
|
|
NM_001370259.2(MEN1):c.1186-10C>T
|
rs762303621
|
|
NM_001370259.2(MEN1):c.655-6C>G
|
rs77461664
|
|
NM_001371596.2(MFSD8):c.1470A>G (p.Gly490=)
|
rs1477527807
|
|
NM_001375808.2(LPIN2):c.1169-7del
|
rs746626720
|
|
NM_001375808.2(LPIN2):c.1716A>G (p.Pro572=)
|
rs2077138820
|
|
NM_001375808.2(LPIN2):c.1939-2del
|
rs745529823
|
|
NM_001375808.2(LPIN2):c.2211C>T (p.Ala737=)
|
rs886053765
|
|
NM_001376.5(DYNC1H1):c.10754+11G>A
|
rs886050372
|
|
NM_001376.5(DYNC1H1):c.1158A>G (p.Arg386=)
|
rs567247522
|
|
NM_001376.5(DYNC1H1):c.11898G>A (p.Pro3966=)
|
rs777166781
|
|
NM_001376.5(DYNC1H1):c.13350G>A (p.Thr4450=)
|
rs961375016
|
|
NM_001376.5(DYNC1H1):c.13707G>C (p.Thr4569=)
|
rs138571942
|
|
NM_001376.5(DYNC1H1):c.2462C>T (p.Ala821Val)
|
rs1391196036
|
|
NM_001376.5(DYNC1H1):c.5049+15G>A
|
rs975753572
|
|
NM_001376.5(DYNC1H1):c.5217C>T (p.Ile1739=)
|
rs886050368
|
|
NM_001376.5(DYNC1H1):c.5422C>A (p.Leu1808Ile)
|
rs879253937
|
|
NM_001376.5(DYNC1H1):c.6210C>G (p.Val2070=)
|
rs898083162
|
|
NM_001376.5(DYNC1H1):c.7014+11T>A
|
rs748466861
|
|
NM_001376.5(DYNC1H1):c.8177+12C>T
|
rs367551573
|
|
NM_001376.5(DYNC1H1):c.8178-12A>T
|
rs538986139
|
|
NM_001376.5(DYNC1H1):c.9138G>A (p.Ser3046=)
|
rs34338935
|
|
NM_001377.3(DYNC2H1):c.10152T>G (p.Ala3384=)
|
rs886047574
|
|
NM_001377.3(DYNC2H1):c.9846T>C (p.Asp3282=)
|
rs886047572
|
|
NM_001378454.1(ALMS1):c.36GGA[16] (p.Glu26_Glu28dup)
|
rs55889738
|
|
NM_001378454.1(ALMS1):c.8439A>G (p.Glu2813=)
|
rs886038617
|
|
NM_001378615.1(CC2D2A):c.762A>G (p.Leu254=)
|
rs116198081
|
|
NM_001384140.1(PCDH15):c.3502-10del
|
rs750835578
|
|
NM_001384140.1(PCDH15):c.706-17_706-14del
|
rs886047068
|
|
NM_001386393.1(PANK2):c.-28C>T
|
rs544239478
|
|
NM_001386393.1(PANK2):c.255G>A (p.Ser85=)
|
rs375741383
|
|
NM_001386393.1(PANK2):c.717T>C (p.Ile239=)
|
rs1742717583
|
|
NM_001395413.1(POR):c.1092T>A (p.Pro364=)
|
rs782729580
|
|
NM_001395413.1(POR):c.1405G>C (p.Val469Leu)
|
rs72557946
|
|
NM_001395413.1(POR):c.562G>A (p.Val188Met)
|
rs201513102
|
|
NM_001395413.1(POR):c.615G>A (p.Leu205=)
|
rs782714107
|
|
NM_001429.4(EP300):c.2876G>T (p.Ser959Ile)
|
rs1308182502
|
|
NM_001457.4(FLNB):c.1327G>A (p.Val443Ile)
|
rs200902568
|
|
NM_001457.4(FLNB):c.1327G>C (p.Val443Leu)
|
rs200902568
|
|
NM_001457.4(FLNB):c.1367G>A (p.Arg456Gln)
|
rs377737248
|
|
NM_001457.4(FLNB):c.1409G>A (p.Arg470Gln)
|
rs750354519
|
|
NM_001457.4(FLNB):c.2130G>C (p.Pro710=)
|
rs371850879
|
|
NM_001457.4(FLNB):c.3409G>A (p.Val1137Met)
|
rs150475174
|
|
NM_001457.4(FLNB):c.4362G>C (p.Pro1454=)
|
rs150844992
|
|
NM_001457.4(FLNB):c.7065C>T (p.His2355=)
|
rs886058766
|
|
NM_001457.4(FLNB):c.7662C>A (p.Thr2554=)
|
rs200328630
|
|
NM_001457.4(FLNB):c.798C>T (p.Pro266=)
|
rs1341441238
|
|
NM_001457.4(FLNB):c.825C>T (p.Ala275=)
|
rs749545528
|
|
NM_001482.3(GATM):c.222C>T (p.Pro74=)
|
rs774485349
|
|
NM_001558.4(IL10RA):c.67+11G>A
|
rs376956484
|
|
NM_001558.4(IL10RA):c.67+13G>A
|
rs886047707
|
|
NM_001609.4(ACADSB):c.1062T>C (p.Ala354=)
|
rs886046780
|
|
NM_001613.4(ACTA2):c.456C>T (p.Gly152=)
|
rs1845848773
|
|
NM_001613.4(ACTA2):c.645G>A (p.Lys215=)
|
rs1053760032
|
|
NM_001643.2(APOA2):c.53-43TG[17]
|
rs17244502
|
|
NM_001643.2(APOA2):c.53-43TG[21]
|
rs17244502
|
|
NM_001698.3(AUH):c.951A>T (p.Pro317=)
|
rs530710210
|
|
NM_001844.5(COL2A1):c.1004C>G (p.Thr335Ser)
|
rs755043901
|
|
NM_001844.5(COL2A1):c.3308C>G (p.Ala1103Gly)
|
rs1180226091
|
|
NM_001844.5(COL2A1):c.3561T>G (p.Pro1187=)
|
rs536885536
|
|
NM_001844.5(COL2A1):c.970-5T>C
|
rs2136605096
|
|
NM_001854.4(COL11A1):c.1792-39ATG[11]
|
rs71752747
|
|
NM_001854.4(COL11A1):c.1792-39ATG[12]
|
rs71752747
|
|
NM_001854.4(COL11A1):c.4303-13dup
|
rs35232764
|
|
NM_001854.4(COL11A1):c.652-6dup
|
rs36076089
|
|
NM_001854.4(COL11A1):c.652-7_652-6dup
|
rs36076089
|
|
NM_001875.5(CPS1):c.1982-8A>T
|
rs563304664
|
|
NM_001875.5(CPS1):c.2688-12A>G
|
rs376699772
|
|
NM_001875.5(CPS1):c.3313C>T (p.Pro1105Ser)
|
rs761921978
|
|
NM_001875.5(CPS1):c.3481-7G>C
|
rs368909569
|
|
NM_001918.5(DBT):c.1282-14_1282-10del
|
rs752915898
|
|
NM_001918.5(DBT):c.1389C>T (p.Phe463=)
|
rs886044964
|
|
NM_001927.4(DES):c.735+11G>A
|
rs1559352868
|
|
NM_001943.5(DSG2):c.1280+4AG[3]
|
rs876657791
|
|
NM_001943.5(DSG2):c.1932T>C (p.Phe644=)
|
rs2073265410
|
|
NM_001943.5(DSG2):c.2178T>C (p.Ser726=)
|
rs749897373
|
|
NM_001943.5(DSG2):c.45+10G>T
|
rs776975980
|
|
NM_001943.5(DSG2):c.828+13C>A
|
rs180926981
|
|
NM_001953.5(TYMP):c.1044G>A (p.Ala348=)
|
rs886057633
|
|
NM_001999.4(FBN2):c.3062G>A (p.Arg1021His)
|
rs139620380
|
|
NM_001999.4(FBN2):c.3218-13A>T
|
rs200543836
|
|
NM_001999.4(FBN2):c.6167-4G>A
|
rs370981323
|
|
NM_001999.4(FBN2):c.645G>T (p.Pro215=)
|
rs764473594
|
|
NM_002076.4(GNS):c.939T>G (p.Thr313=)
|
rs1869657867
|
|
NM_002103.5(GYS1):c.235C>T (p.Leu79=)
|
rs886054573
|
|
NM_002103.5(GYS1):c.417C>T (p.Ile139=)
|
rs758550328
|
|
NM_002156.5(HSPD1):c.*18dup
|
rs777031722
|
|
NM_002185.5(IL7R):c.221+7G>A
|
rs200937717
|
|
NM_002234.4(KCNA5):c.186G>C (p.Ser62=)
|
rs760015626
|
|
NM_002292.4(LAMB2):c.916-4A>G
|
rs886058677
|
|
NM_002435.3(MPI):c.1212C>T (p.Val404=)
|
rs2064843052
|
|
NM_002454.3(MTRR):c.1875G>T (p.Val625=)
|
rs12347
|
|
NM_002470.4(MYH3):c.1960-17dup
|
rs3216884
|
|
NM_002471.4(MYH6):c.3979-8del
|
rs193922652
|
|
NM_002473.6(MYH9):c.2632-8_2632-6del
|
rs773975934
|
|
NM_002474.3(MYH11):c.1249-15G>T
|
rs886051765
|
|
NM_002474.3(MYH11):c.1341C>A (p.Thr447=)
|
rs200660016
|
|
NM_002474.3(MYH11):c.2665A>C (p.Lys889Gln)
|
rs762308378
|
|
NM_002474.3(MYH11):c.3255G>A (p.Leu1085=)
|
rs768298662
|
|
NM_002474.3(MYH11):c.3651+6_3651+11del
|
rs371843272
|
|
NM_002474.3(MYH11):c.4821C>T (p.Asp1607=)
|
rs749424185
|
|
NM_002474.3(MYH11):c.5336C>T (p.Thr1779Met)
|
rs201960644
|
|
NM_002474.3(MYH11):c.727-11C>T
|
rs886051766
|
|
NM_002485.5(NBN):c.1417C>A (p.Gln473Lys)
|
rs755805461
|
|
NM_002529.4(NTRK1):c.213-5C>G
|
rs757323460
|
|
NM_002529.4(NTRK1):c.2205+13C>A
|
rs1648175536
|
|
NM_002529.4(NTRK1):c.2214C>T (p.Asp738=)
|
rs1648253157
|
|
NM_002529.4(NTRK1):c.468G>C (p.Leu156=)
|
rs991397214
|
|
NM_002618.4(PEX13):c.417A>G (p.Ala139=)
|
rs886056197
|
|
NM_002633.3(PGM1):c.1029-8C>G
|
rs752232600
|
|
NM_002633.3(PGM1):c.1065C>A (p.Thr355=)
|
rs773677629
|
|
NM_002633.3(PGM1):c.741G>A (p.Ser247=)
|
rs142222746
|
|
NM_002667.5(PLN):c.90T>C (p.Asn30=)
|
rs868301643
|
|
NM_002693.3(POLG):c.*49G>A
|
rs758880377
|
|
NM_002693.3(POLG):c.1629C>T (p.Val543=)
|
rs56349446
|
|
NM_002693.3(POLG):c.1905G>A (p.Pro635=)
|
rs550592814
|
|
NM_002693.3(POLG):c.2109C>T (p.Ala703=)
|
rs2307429
|
|
NM_002693.3(POLG):c.2481-10A>C
|
rs555280530
|
|
NM_002693.3(POLG):c.264C>T (p.Phe88=)
|
rs144439703
|
|
NM_002693.3(POLG):c.3482+6C>T
|
rs55779802
|
|
NM_002693.3(POLG):c.830A>T (p.His277Leu)
|
rs138929605
|
|
NM_002693.3(POLG):c.970C>T (p.Pro324Ser)
|
rs2307437
|
|
NM_002734.5(PRKAR1A):c.770-8T>G
|
rs182841147
|
|
NM_002778.4(PSAP):c.1278C>T (p.Asn426=)
|
rs777227555
|
|
NM_002857.4(PEX19):c.181-4G>T
|
rs747572423
|
|
NM_002863.5(PYGL):c.1768+10C>T
|
rs780893472
|
|
NM_002890.3(RASA1):c.1611-15G>A
|
rs1760796647
|
|
NM_002890.3(RASA1):c.2049G>C (p.Gly683=)
|
rs886060841
|
|
NM_002890.3(RASA1):c.75G>A (p.Ala25=)
|
rs529924262
|
|
NM_002890.3(RASA1):c.899+8A>G
|
rs781285667
|
|
NM_002906.4(RDX):c.-64-6dup
|
rs61003001
|
|
NM_002906.4(RDX):c.468-12dup
|
rs368429159
|
|
NM_003051.4(SLC16A1):c.362-58TATT[9]
|
rs149491709
|
|
NM_003060.4(SLC22A5):c.760C>A (p.Arg254=)
|
rs121908893
|
|
NM_003119.4(SPG7):c.763C>T (p.Leu255=)
|
rs2058311848
|
|
NM_003126.4(SPTA1):c.5911-17_5911-8del
|
rs554241455
|
|
NM_003172.4(SURF1):c.226T>C (p.Leu76=)
|
rs782036327
|
|
NM_003238.6(TGFB2):c.510+9C>T
|
rs1481374757
|
|
NM_003283.6(TNNT1):c.611+12G>A
|
rs376456377
|
|
NM_003283.6(TNNT1):c.611+12G>T
|
rs376456377
|
|
NM_003289.4(TPM2):c.773-5_773-3dup
|
rs35401252
|
|
NM_003331.5(TYK2):c.2618-14C>G
|
rs532521303
|
|
NM_003331.5(TYK2):c.2715+9C>T
|
rs886054132
|
|
NM_003334.4(UBA1):c.105G>A (p.Ser35=)
|
rs782781187
|
|
NM_003482.4(KMT2D):c.11162TGCAGC[3] (p.3721LQ[3])
|
rs771711980
|
|
NM_003482.4(KMT2D):c.11850GCA[1] (p.Gln3954del)
|
rs886049475
|
|
NM_003494.4(DYSF):c.4C>T (p.Leu2=)
|
rs772536111
|
|
NM_003560.4(PLA2G6):c.266C>A (p.Ser89Tyr)
|
rs142715413
|
|
NM_003640.5(ELP1):c.169T>C (p.Leu57=)
|
rs886063349
|
|
NM_003640.5(ELP1):c.1957T>C (p.Leu653=)
|
rs542412132
|
|
NM_003640.5(ELP1):c.3441A>G (p.Gln1147=)
|
rs779796058
|
|
NM_003742.4(ABCB11):c.2298G>A (p.Gly766=)
|
rs200087122
|
|
NM_003748.4(ALDH4A1):c.1086G>C (p.Pro362=)
|
rs41310410
|
|
NM_003748.4(ALDH4A1):c.1460+15C>T
|
rs371777923
|
|
NM_003764.4(STX11):c.221C>T (p.Thr74Met)
|
rs540150447
|
|
NM_003764.4(STX11):c.264C>T (p.Ser88=)
|
rs774895225
|
|
NM_003764.4(STX11):c.63C>T (p.Asp21=)
|
rs149176821
|
|
NM_003859.3(DPM1):c.161+10C>T
|
rs779869066
|
|
NM_003859.3(DPM1):c.84G>A (p.Ser28=)
|
rs16995639
|
|
NM_003924.4(PHOX2B):c.741C>G (p.Ala247=)
|
rs764470906
|
|
NM_003982.4(SLC7A7):c.1095+6T>C
|
rs531862402
|
|
NM_003982.4(SLC7A7):c.1263G>A (p.Pro421=)
|
rs1043886041
|
|
NM_003982.4(SLC7A7):c.591G>A (p.Ala197=)
|
rs750720946
|
|
NM_003982.4(SLC7A7):c.931A>G (p.Ile311Val)
|
rs539843065
|
|
NM_004035.7(ACOX1):c.1479-12A>G
|
rs2065755060
|
|
NM_004035.7(ACOX1):c.1866C>A (p.Gly622=)
|
rs886053456
|
|
NM_004035.7(ACOX1):c.270-8C>G
|
rs751892262
|
|
NM_004100.5(EYA4):c.*1142del
|
rs886061091
|
|
NM_004100.5(EYA4):c.899C>A (p.Ala300Asp)
|
rs757252384
|
|
NM_004239.4(TRIP11):c.5829C>T (p.Pro1943=)
|
rs748903681
|
|
NM_004273.5(CHST3):c.195C>T (p.Thr65=)
|
rs759935618
|
|
NM_004273.5(CHST3):c.306C>T (p.Gly102=)
|
rs776007496
|
|
NM_004287.5(GOSR2):c.363C>T (p.Asp121=)
|
rs886053078
|
|
NM_004304.5(ALK):c.1890C>T (p.Ile630=)
|
rs1278070199
|
|
NM_004304.5(ALK):c.2073C>T (p.Ser691=)
|
rs370435082
|
|
NM_004304.5(ALK):c.2901C>A (p.Thr967=)
|
rs886055930
|
|
NM_004304.5(ALK):c.310C>A (p.Pro104Thr)
|
rs576431612
|
|
NM_004304.5(ALK):c.510C>T (p.Leu170=)
|
rs886055933
|
|
NM_004304.5(ALK):c.615C>A (p.Ser205=)
|
rs567498111
|
|
NM_004304.5(ALK):c.660C>T (p.Phe220=)
|
rs1667944556
|
|
NM_004304.5(ALK):c.822G>A (p.Leu274=)
|
rs1265006535
|
|
NM_004360.5(CDH1):c.1170C>T (p.Asn390=)
|
rs766505270
|
|
NM_004360.5(CDH1):c.1716T>C (p.Ser572=)
|
rs876660176
|
|
NM_004360.5(CDH1):c.1887A>G (p.Glu629=)
|
rs886052236
|
|
NM_004415.4(DSP):c.5064G>A (p.Ala1688=)
|
rs886061747
|
|
NM_004415.4(DSP):c.5391G>A (p.Arg1797=)
|
rs778745098
|
|
NM_004415.4(DSP):c.5544G>A (p.Arg1848=)
|
rs727503004
|
|
NM_004415.4(DSP):c.7817G>A (p.Ser2606Asn)
|
rs199597935
|
|
NM_004415.4(DSP):c.8199G>A (p.Thr2733=)
|
rs145085696
|
|
NM_004453.4(ETFDH):c.1116+7C>T
|
rs748640706
|
|
NM_004453.4(ETFDH):c.1117-11T>C
|
rs917132143
|
|
NM_004453.4(ETFDH):c.63T>C (p.Ile21=)
|
rs566605780
|
|
NM_004519.4(KCNQ3):c.-141_-139dup
|
rs879019805
|
|
NM_004519.4(KCNQ3):c.1809A>G (p.Pro603=)
|
rs886062691
|
|
NM_004519.4(KCNQ3):c.1995G>T (p.Ser665=)
|
rs759776061
|
|
NM_004525.3(LRP2):c.11568G>A (p.Pro3856=)
|
rs745949029
|
|
NM_004525.3(LRP2):c.3932G>A (p.Arg1311His)
|
rs140748929
|
|
NM_004525.3(LRP2):c.5648+7A>C
|
rs775694684
|
|
NM_004612.4(TGFBR1):c.828C>G (p.Leu276=)
|
rs886063224
|
|
NM_004612.4(TGFBR1):c.97+15GGCG[4]
|
rs886063221
|
|
NM_004628.5(XPC):c.1185G>A (p.Lys395=)
|
rs886058051
|
|
NM_004629.2(FANCG):c.957G>A (p.Pro319=)
|
rs145092954
|
|
NM_004655.4(AXIN2):c.1347C>T (p.Thr449=)
|
rs762279806
|
|
NM_004655.4(AXIN2):c.1443C>T (p.Leu481=)
|
rs886053272
|
|
NM_004655.4(AXIN2):c.174C>T (p.Asn58=)
|
rs763012548
|
|
NM_004655.4(AXIN2):c.2124G>A (p.Ser708=)
|
rs143243661
|
|
NM_004655.4(AXIN2):c.2405+4A>C
|
rs377423720
|
|
NM_004656.4(BAP1):c.783+11T>C
|
rs1705153387
|
|
NM_004817.4(TJP2):c.3408-6dup
|
rs778863371
|
|
NM_004820.5(CYP7B1):c.957T>C (p.Arg319=)
|
rs886063073
|
|
NM_004984.4(KIF5A):c.1603C>T (p.Arg535Trp)
|
rs1055742325
|
|
NM_005045.4(RELN):c.-24GGC[15] (p.Met1_Glu2insGlyGlyGlyGlyGlyGlyGly)
|
rs55656324
|
|
NM_005045.4(RELN):c.-24GGC[6]
|
rs55656324
|
|
NM_005045.4(RELN):c.-24GGC[9] (p.Met1_Glu2insGly)
|
rs55656324
|
|
NM_005045.4(RELN):c.5211-7dup
|
rs34125550
|
|
NM_005045.4(RELN):c.5211-8_5211-7dup
|
rs34125550
|
|
NM_005142.3(CBLIF):c.138G>A (p.Ser46=)
|
rs200472519
|
|
NM_005159.5(ACTC1):c.809-58TG[17]
|
rs59431308
|
|
NM_005159.5(ACTC1):c.809-58TG[21]
|
rs59431308
|
|
NM_005159.5(ACTC1):c.809-58TG[22]
|
rs59431308
|
|
NM_005159.5(ACTC1):c.809-58TG[24]
|
rs59431308
|
|
NM_005159.5(ACTC1):c.809-58TG[26]
|
rs59431308
|
|
NM_005198.5(CHKB):c.447+12G>A
|
rs749454476
|
|
NM_005198.5(CHKB):c.582-13_582-11del
|
rs766816072
|
|
NM_005219.5(DIAPH1):c.402+12del
|
rs555848272
|
|
NM_005271.5(GLUD1):c.1403-11dup
|
rs550609501
|
|
NM_005271.5(GLUD1):c.1557+12G>A
|
rs201872390
|
|
NM_005327.7(HADH):c.264C>T (p.Ala88=)
|
rs201324954
|
|
NM_005327.7(HADH):c.291G>T (p.Leu97=)
|
rs552317372
|
|
NM_005518.4(HMGCS2):c.621C>T (p.Pro207=)
|
rs886045207
|
|
NM_005535.3(IL12RB1):c.1461T>C (p.Asp487=)
|
rs542734526
|
|
NM_005535.3(IL12RB1):c.1650C>T (p.Phe550=)
|
rs2034193297
|
|
NM_005535.3(IL12RB1):c.732G>T (p.Ser244=)
|
rs145487261
|
|
NM_005546.4(ITK):c.150G>A (p.Thr50=)
|
rs61743239
|
|
NM_005546.4(ITK):c.396C>T (p.Cys132=)
|
rs1459993484
|
|
NM_005591.4(MRE11):c.154-11C>G
|
rs751354326
|
|
NM_005591.4(MRE11):c.1545A>G (p.Glu515=)
|
rs886048759
|
|
NM_005591.4(MRE11):c.1868-4C>A
|
rs768257868
|
|
NM_005609.4(PYGM):c.1769-7T>C
|
rs2058357396
|
|
NM_005609.4(PYGM):c.177C>T (p.Thr59=)
|
rs753355735
|
|
NM_005609.4(PYGM):c.537G>A (p.Glu179=)
|
rs886048462
|
|
NM_005633.4(SOS1):c.*1694del
|
rs767903412
|
|
NM_005633.4(SOS1):c.*3189_*3192del
|
rs572584074
|
|
NM_005633.4(SOS1):c.1989A>C (p.Ile663=)
|
rs587781172
|
|
NM_005677.4(COLQ):c.718-9C>T
|
rs756975517
|
|
NM_005709.4(USH1C):c.1220G>A (p.Gly407Glu)
|
rs143923730
|
|
NM_005726.6(TSFM):c.408G>A (p.Leu136=)
|
rs144109380
|
|
NM_005908.4(MANBA):c.1953G>A (p.Thr651=)
|
rs886058968
|
|
NM_005908.4(MANBA):c.2269T>C (p.Leu757=)
|
rs774068992
|
|
NM_005908.4(MANBA):c.2358C>T (p.Asn786=)
|
rs767182713
|
|
NM_006005.3(WFS1):c.1134C>G (p.Thr378=)
|
rs71530904
|
|
NM_006005.3(WFS1):c.114C>T (p.Ser38=)
|
rs531593902
|
|
NM_006005.3(WFS1):c.132C>T (p.Pro44=)
|
rs754346893
|
|
NM_006005.3(WFS1):c.1333C>G (p.Leu445Val)
|
rs764932308
|
|
NM_006005.3(WFS1):c.2466C>T (p.Leu822=)
|
rs141669724
|
|
NM_006005.3(WFS1):c.2481C>T (p.Thr827=)
|
rs886059532
|
|
NM_006005.3(WFS1):c.2514T>C (p.Pro838=)
|
rs773643250
|
|
NM_006005.3(WFS1):c.2580C>T (p.His860=)
|
rs754802246
|
|
NM_006005.3(WFS1):c.468G>T (p.Thr156=)
|
rs201145164
|
|
NM_006005.3(WFS1):c.654C>T (p.Pro218=)
|
rs727504666
|
|
NM_006031.6(PCNT):c.1083A>G (p.Leu361=)
|
rs758561093
|
|
NM_006118.4(HAX1):c.713C>T (p.Thr238Ile)
|
rs377331781
|
|
NM_006186.4(NR4A2):c.*659_*661del
|
rs577936871
|
|
NM_006204.4(PDE6C):c.2208+13_2208+17del
|
rs886047483
|
|
NM_006204.4(PDE6C):c.252G>T (p.Leu84=)
|
rs1131978
|
|
NM_006206.6(PDGFRA):c.1596G>C (p.Leu532=)
|
rs1723603076
|
|
NM_006206.6(PDGFRA):c.1821G>C (p.Val607=)
|
rs886059446
|
|
NM_006206.6(PDGFRA):c.2040A>C (p.Gly680=)
|
rs773679384
|
|
NM_006206.6(PDGFRA):c.219T>C (p.Asn73=)
|
rs886059443
|
|
NM_006206.6(PDGFRA):c.2574C>A (p.Pro858=)
|
rs771421611
|
|
NM_006206.6(PDGFRA):c.3195G>A (p.Glu1065=)
|
rs1724822643
|
|
NM_006206.6(PDGFRA):c.480C>T (p.Thr160=)
|
rs1461385164
|
|
NM_006208.3(ENPP1):c.313+8_313+9insTT
|
rs879243445
|
|
NM_006208.3(ENPP1):c.313+8_313+9insTTGTGT
|
rs879243445
|
|
NM_006208.3(ENPP1):c.313+9GT[16]
|
rs59956343
|
|
NM_006208.3(ENPP1):c.313+9GT[17]
|
rs59956343
|
|
NM_006208.3(ENPP1):c.313+9GT[20]
|
rs59956343
|
|
NM_006208.3(ENPP1):c.313+9GT[22]
|
rs59956343
|
|
NM_006296.7(VRK2):c.*102_*105dup
|
rs759217526
|
|
NM_006306.4(SMC1A):c.2700C>T (p.Gly900=)
|
rs186510389
|
|
NM_006306.4(SMC1A):c.3534G>C (p.Ser1178=)
|
rs782763816
|
|
NM_006348.5(COG5):c.948+12A>T
|
rs763696416
|
|
NM_006371.5(CRTAP):c.930C>T (p.Asp310=)
|
rs762039541
|
|
NM_006397.3(RNASEH2A):c.550-13G>A
|
rs560268310
|
|
NM_006415.4(SPTLC1):c.1329-9T>C
|
rs778388513
|
|
NM_006493.4(CLN5):c.566-7A>G
|
rs772501269
|
|
NM_006502.3(POLH):c.1247CTC[2] (p.Pro418del)
|
rs747834463
|
|
NM_006623.4(PHGDH):c.1078+10G>T
|
rs374994783
|
|
NM_006623.4(PHGDH):c.1158G>A (p.Ala386=)
|
rs144484007
|
|
NM_006623.4(PHGDH):c.381G>A (p.Ser127=)
|
rs886045205
|
|
NM_006623.4(PHGDH):c.519G>A (p.Gly173=)
|
rs754326499
|
|
NM_006623.4(PHGDH):c.543G>A (p.Glu181=)
|
rs886045206
|
|
NM_006790.3(MYOT):c.343G>T (p.Ala115Ser)
|
rs114194130
|
|
NM_006892.4(DNMT3B):c.921+13G>A
|
rs1979990258
|
|
NM_006949.4(STXBP2):c.1134G>A (p.Glu378=)
|
rs755758613
|
|
NM_006996.3(SLC19A2):c.*1524C>T
|
rs79478264
|
|
NM_007194.4(CHEK2):c.1461+12A>G
|
rs886057328
|
|
NM_007194.4(CHEK2):c.417C>T (p.Tyr139=)
|
rs200917541
|
|
NM_007272.3(CTRC):c.615C>T (p.Gly205=)
|
rs756236720
|
|
NM_007272.3(CTRC):c.642G>A (p.Gly214=)
|
rs1265655451
|
|
NM_007294.4(BRCA1):c.*873del
|
rs59541324
|
|
NM_007294.4(BRCA1):c.1703C>T (p.Pro568Leu)
|
rs80356910
|
|
NM_007294.4(BRCA1):c.5466T>C (p.His1822=)
|
rs886052975
|
|
NM_007294.4(BRCA1):c.823G>A (p.Gly275Ser)
|
rs8176153
|
|
NM_007374.3(SIX6):c.18C>A (p.Ile6=)
|
rs150715226
|
|
NM_007374.3(SIX6):c.573-6C>G
|
rs770759922
|
|
NM_012062.5(DNM1L):c.*21_*22delinsCT
|
rs34421401
|
|
NM_012203.2(GRHPR):c.666C>G (p.Thr222=)
|
rs146227450
|
|
NM_012213.3(MLYCD):c.1424A>G (p.Lys475Arg)
|
rs200413924
|
|
NM_012213.3(MLYCD):c.984G>T (p.Leu328=)
|
rs765416276
|
|
NM_012434.5(SLC17A5):c.1176C>T (p.Ala392=)
|
rs372195490
|
|
NM_012472.6(DNAAF11):c.574C>G (p.Gln192Glu)
|
rs141945265
|
|
NM_013247.5(HTRA2):c.825T>C (p.Val275=)
|
rs777650346
|
|
NM_013339.4(ALG6):c.1127+8A>C
|
rs756307525
|
|
NM_013339.4(ALG6):c.450C>A (p.Ile150=)
|
rs1644492796
|
|
NM_013339.4(ALG6):c.495A>G (p.Gln165=)
|
rs886046471
|
|
NM_014000.3(VCL):c.1704G>A (p.Gln568=)
|
rs1839959715
|
|
NM_014000.3(VCL):c.789T>C (p.Thr263=)
|
rs538002543
|
|
NM_014043.4(CHMP2B):c.531+8C>T
|
rs374796686
|
|
NM_014140.4(SMARCAL1):c.1485+8G>A
|
rs886055617
|
|
NM_014140.4(SMARCAL1):c.2295G>A (p.Glu765=)
|
rs1301876154
|
|
NM_014140.4(SMARCAL1):c.863-4G>T
|
rs1693689203
|
|
NM_014140.4(SMARCAL1):c.961G>A (p.Gly321Ser)
|
rs371378288
|
|
NM_014141.6(CNTNAP2):c.1348+13T>G
|
rs200282837
|
|
NM_014141.6(CNTNAP2):c.286A>G (p.Ser96Gly)
|
rs540745201
|
|
NM_014141.6(CNTNAP2):c.550+10G>A
|
rs776175685
|
|
NM_014141.6(CNTNAP2):c.600C>T (p.Phe200=)
|
rs752019151
|
|
NM_014141.6(CNTNAP2):c.945C>G (p.Thr315=)
|
rs794727872
|
|
NM_014244.5(ADAMTS2):c.1308G>C (p.Ala436=)
|
rs41285549
|
|
NM_014244.5(ADAMTS2):c.1848C>G (p.Pro616=)
|
rs569510744
|
|
NM_014244.5(ADAMTS2):c.2015G>T (p.Arg672Leu)
|
rs200806292
|
|
NM_014244.5(ADAMTS2):c.2382G>A (p.Glu794=)
|
rs745407557
|
|
NM_014244.5(ADAMTS2):c.258C>G (p.Ala86=)
|
rs886060497
|
|
NM_014244.5(ADAMTS2):c.3078C>T (p.Gly1026=)
|
rs886060491
|
|
NM_014244.5(ADAMTS2):c.447G>A (p.Glu149=)
|
rs886060496
|
|
NM_014244.5(ADAMTS2):c.919T>C (p.Leu307=)
|
rs1764038673
|
|
NM_014252.4(SLC25A15):c.45G>A (p.Ala15=)
|
rs200958757
|
|
NM_014297.5(ETHE1):c.376-5G>C
|
rs886054479
|
|
NM_014324.6(AMACR):c.27G>A (p.Val9=)
|
rs780679627
|
|
NM_014324.6(AMACR):c.289C>A (p.Arg97=)
|
rs757072374
|
|
NM_014324.6(AMACR):c.553-5C>A
|
rs1753722683
|
|
NM_014336.5(AIPL1):c.970C>A (p.Arg324=)
|
rs375096209
|
|
NM_014336.5(AIPL1):c.98T>C (p.Val33Ala)
|
rs16955859
|
|
NM_014339.7(IL17RA):c.1233C>T (p.Ala411=)
|
rs552425210
|
|
NM_014339.7(IL17RA):c.1632G>C (p.Pro544=)
|
rs550947413
|
|
NM_014339.7(IL17RA):c.641C>T (p.Ala214Val)
|
rs558799480
|
|
NM_014339.7(IL17RA):c.894C>T (p.Ser298=)
|
rs374537654
|
|
NM_014363.6(SACS):c.10291G>C (p.Val3431Leu)
|
rs144179865
|
|
NM_014363.6(SACS):c.10716C>G (p.Pro3572=)
|
rs886050077
|
|
NM_014363.6(SACS):c.12829C>T (p.Pro4277Ser)
|
rs370655945
|
|
NM_014363.6(SACS):c.13563T>C (p.Asn4521=)
|
rs766497653
|
|
NM_014363.6(SACS):c.2926C>A (p.Arg976Ser)
|
rs139993038
|
|
NM_014363.6(SACS):c.3427C>A (p.Gln1143Lys)
|
rs144267558
|
|
NM_014363.6(SACS):c.3915T>C (p.His1305=)
|
rs767598017
|
|
NM_014363.6(SACS):c.4986G>A (p.Thr1662=)
|
rs755523201
|
|
NM_014363.6(SACS):c.6008A>T (p.Asp2003Val)
|
rs537408260
|
|
NM_014363.6(SACS):c.6634A>G (p.Thr2212Ala)
|
rs556248979
|
|
NM_014363.6(SACS):c.7713A>T (p.Pro2571=)
|
rs557113294
|
|
NM_014363.6(SACS):c.8022T>C (p.Phe2674=)
|
rs34928783
|
|
NM_014363.6(SACS):c.8853T>G (p.Val2951=)
|
rs9552929
|
|
NM_014363.6(SACS):c.972C>A (p.Asp324Glu)
|
rs546652936
|
|
NM_014365.3(HSPB8):c.*848TAA[9]
|
rs60924821
|
|
NM_014365.3(HSPB8):c.432-10T>A
|
rs368810689
|
|
NM_014391.3(ANKRD1):c.346-12_346-11insTATA
|
rs766545285
|
|
NM_014391.3(ANKRD1):c.346-15_346-14del
|
rs794728971
|
|
NM_014391.3(ANKRD1):c.346-17_346-10del
|
rs397517250
|
|
NM_014391.3(ANKRD1):c.346-21ATTT[2]
|
rs397517250
|
|
NM_014391.3(ANKRD1):c.346-29_346-12del
|
rs72003210
|
|
NM_014391.3(ANKRD1):c.346-43AT[13]
|
rs60406118
|
|
NM_014425.5(INVS):c.907-13dup
|
rs750082874
|
|
NM_014714.4(IFT140):c.2997+8C>G
|
rs372183503
|
|
NM_014714.4(IFT140):c.3215G>A (p.Arg1072Gln)
|
rs201884886
|
|
NM_014714.4(IFT140):c.3513G>A (p.Ala1171=)
|
rs763709094
|
|
NM_014714.4(IFT140):c.3660+13C>T
|
rs767836990
|
|
NM_014714.4(IFT140):c.481C>G (p.Pro161Ala)
|
rs148462329
|
|
NM_014714.4(IFT140):c.772A>T (p.Thr258Ser)
|
rs141254616
|
|
NM_014714.4(IFT140):c.867C>G (p.Ser289Arg)
|
rs145858131
|
|
NM_014714.4(IFT140):c.867C>T (p.Ser289=)
|
rs145858131
|
|
NM_014855.3(AP5Z1):c.1573A>C (p.Lys525Gln)
|
rs186003800
|
|
NM_014855.3(AP5Z1):c.1740G>A (p.Ala580=)
|
rs773950276
|
|
NM_014855.3(AP5Z1):c.1794C>T (p.Ala598=)
|
rs374673921
|
|
NM_014855.3(AP5Z1):c.2151C>T (p.Pro717=)
|
rs1781745482
|
|
NM_014874.4(MFN2):c.1716+8A>G
|
rs1639390139
|
|
NM_014946.4(SPAST):c.*372TTGT[2]
|
rs756347073
|
|
NM_014946.4(SPAST):c.1744T>C (p.Leu582=)
|
rs886055962
|
|
NM_015046.7(SETX):c.389-9del
|
rs534931548
|
|
NM_015046.7(SETX):c.6843-6_6843-5dup
|
rs34769225
|
|
NM_015046.7(SETX):c.7775C>T (p.Ala2592Val)
|
rs1842534708
|
|
NM_015192.4(PLCB1):c.1854T>C (p.Gly618=)
|
rs559952614
|
|
NM_015192.4(PLCB1):c.2571G>A (p.Thr857=)
|
rs995077080
|
|
NM_015192.4(PLCB1):c.3135C>A (p.Val1045=)
|
rs577076166
|
|
NM_015272.5(RPGRIP1L):c.3220+13T>C
|
rs376659273
|
|
NM_015346.4(ZFYVE26):c.4502C>T (p.Thr1501Met)
|
rs201034965
|
|
NM_015346.4(ZFYVE26):c.5622-10_5622-9del
|
rs768978705
|
|
NM_015474.4(SAMHD1):c.543A>T (p.Ala181=)
|
rs769968442
|
|
NM_015627.3(LDLRAP1):c.276G>A (p.Val92=)
|
rs1215026981
|
|
NM_015627.3(LDLRAP1):c.414C>T (p.Asn138=)
|
rs1057515536
|
|
NM_015627.3(LDLRAP1):c.45C>T (p.Pro15=)
|
rs1057515534
|
|
NM_015627.3(LDLRAP1):c.480C>T (p.Thr160=)
|
rs1057515463
|
|
NM_015702.3(MMADHC):c.759A>T (p.Gly253=)
|
rs886054920
|
|
NM_016042.4(EXOSC3):c.42C>T (p.Gly14=)
|
rs1828679645
|
|
NM_016123.4(IRAK4):c.1347+13del
|
rs751119487
|
|
NM_016156.6(MTMR2):c.184_186del (p.Arg62del)
|
rs141498429
|
|
NM_016203.4(PRKAG2):c.912G>A (p.Ala304=)
|
rs145029525
|
|
NM_016219.5(MAN1B1):c.159G>A (p.Thr53=)
|
rs774835139
|
|
NM_016247.4(IMPG2):c.534-13dup
|
rs567795716
|
|
NM_016630.7(SPG21):c.177T>C (p.Phe59=)
|
rs2085872082
|
|
NM_016630.7(SPG21):c.321C>T (p.Gly107=)
|
rs566278586
|
|
NM_016729.3(FOLR1):c.510A>G (p.Ala170=)
|
rs564331848
|
|
NM_016938.5(EFEMP2):c.321C>T (p.Asn107=)
|
rs762409753
|
|
NM_017534.6(MYH2):c.2478C>T (p.Ser826=)
|
rs2073428153
|
|
NM_017636.4(TRPM4):c.1908G>C (p.Val636=)
|
rs950364050
|
|
NM_017636.4(TRPM4):c.2154A>C (p.Thr718=)
|
rs370827464
|
|
NM_017636.4(TRPM4):c.2358C>T (p.Asn786=)
|
rs886054579
|
|
NM_017636.4(TRPM4):c.2529G>C (p.Gly843=)
|
rs754769591
|
|
NM_017668.3(NDE1):c.*367T>C
|
rs138543179
|
|
NM_017668.3(NDE1):c.948-3135C>T
|
rs759760029
|
|
NM_017755.5(NSUN2):c.-73C>T
|
rs139145592
|
|
NM_017882.3(CLN6):c.*141GT[12]
|
rs3837692
|
|
NM_017882.3(CLN6):c.213C>G (p.Leu71=)
|
rs146980624
|
|
NM_017882.3(CLN6):c.66C>T (p.Ala22=)
|
rs796052349
|
|
NM_017882.3(CLN6):c.83+11G>A
|
rs2093262385
|
|
NM_017950.4(CCDC40):c.2169C>T (p.Ile723=)
|
rs200641382
|
|
NM_018055.5(NODAL):c.819C>G (p.Ala273=)
|
rs749265748
|
|
NM_018100.4(EFHC1):c.*1025AT[12]
|
rs59794069
|
|
NM_018100.4(EFHC1):c.*140C>T
|
rs78906153
|
|
NM_018129.4(PNPO):c.549T>C (p.Tyr183=)
|
rs2036008214
|
|
NM_018136.5(ASPM):c.2936+11_2936+14del
|
rs745619939
|
|
NM_018206.6(VPS35):c.1035G>A (p.Glu345=)
|
rs563975281
|
|
NM_018368.4(LMBRD1):c.1611C>G (p.Val537=)
|
rs534280770
|
|
NM_018368.4(LMBRD1):c.582A>G (p.Ser194=)
|
rs1387756161
|
|
NM_018418.5(SPATA7):c.57G>A (p.Pro19=)
|
rs367830780
|
|
NM_018418.5(SPATA7):c.57G>T (p.Pro19=)
|
rs367830780
|
|
NM_018451.5(CENPJ):c.2992-17dup
|
rs35599563
|
|
NM_018451.5(CENPJ):c.2992-18_2992-17del
|
rs151246139
|
|
NM_018648.4(NOP10):c.*41dup
|
rs528879821
|
|
NM_018714.3(COG1):c.903G>C (p.Gln301His)
|
rs117208167
|
|
NM_018718.3(CEP41):c.278-15A>C
|
rs142452124
|
|
NM_018834.6(MATR3):c.1734+11T>G
|
rs886059990
|
|
NM_018834.6(MATR3):c.2031C>T (p.Asp677=)
|
rs557085910
|
|
NM_018834.6(MATR3):c.675A>G (p.Arg225=)
|
rs199711502
|
|
NM_019032.6(ADAMTSL4):c.1750-10_1750-6del
|
rs886045267
|
|
NM_019098.5(CNGB3):c.339-10dup
|
rs200792506
|
|
NM_019892.6(INPP5E):c.1074G>A (p.Pro358=)
|
rs746782404
|
|
NM_019892.6(INPP5E):c.1279+14T>C
|
rs886063711
|
|
NM_020166.5(MCCC1):c.231G>A (p.Ala77=)
|
rs144230304
|
|
NM_020166.5(MCCC1):c.768A>G (p.Val256=)
|
rs567236851
|
|
NM_020247.5(COQ8A):c.*761G>A
|
rs145779574
|
|
NM_020247.5(COQ8A):c.1256+11C>G
|
rs564593360
|
|
NM_020247.5(COQ8A):c.1398+12C>A
|
rs774158999
|
|
NM_020247.5(COQ8A):c.1713C>A (p.Ala571=)
|
rs886046069
|
|
NM_020247.5(COQ8A):c.521C>A (p.Thr174Lys)
|
rs181579601
|
|
NM_020247.5(COQ8A):c.697G>A (p.Ala233Thr)
|
rs376462712
|
|
NM_020297.4(ABCC9):c.1165-6dup
|
rs35857705
|
|
NM_020297.4(ABCC9):c.1165-7_1165-6del
|
rs35857705
|
|
NM_020297.4(ABCC9):c.133T>C (p.Leu45=)
|
rs1555125400
|
|
NM_020297.4(ABCC9):c.1992C>T (p.Pro664=)
|
rs780071007
|
|
NM_020297.4(ABCC9):c.366T>C (p.Tyr122=)
|
rs886049174
|
|
NM_020297.4(ABCC9):c.6C>T (p.Ser2=)
|
rs765382139
|
|
NM_020320.5(RARS2):c.888G>A (p.Thr296=)
|
rs145189950
|
|
NM_020320.5(RARS2):c.888G>C (p.Thr296=)
|
rs145189950
|
|
NM_020366.4(RPGRIP1):c.3571C>T (p.Arg1191Trp)
|
rs188660364
|
|
NM_020376.4(PNPLA2):c.165G>T (p.Ala55=)
|
rs761885395
|
|
NM_020376.4(PNPLA2):c.487-15T>G
|
rs749452055
|
|
NM_020376.4(PNPLA2):c.487-7G>A
|
rs372342635
|
|
NM_020451.3(SELENON):c.*267C>G
|
rs184807941
|
|
NM_020451.3(SELENON):c.1710G>A (p.Thr570=)
|
rs371398538
|
|
NM_020533.3(MCOLN1):c.1032G>A (p.Leu344=)
|
rs371345093
|
|
NM_020533.3(MCOLN1):c.1077C>T (p.Val359=)
|
rs200417975
|
|
NM_020533.3(MCOLN1):c.1135-14G>A
|
rs2022615978
|
|
NM_020533.3(MCOLN1):c.1590A>C (p.Ala530=)
|
rs2022699936
|
|
NM_020533.3(MCOLN1):c.1707-14C>T
|
rs541186661
|
|
NM_020533.3(MCOLN1):c.985-15G>C
|
rs199860642
|
|
NM_020686.6(ABAT):c.1123-14G>A
|
rs758870080
|
|
NM_020686.6(ABAT):c.1140C>T (p.Asn380=)
|
rs770156912
|
|
NM_020686.6(ABAT):c.1389G>A (p.Val463=)
|
rs2060432508
|
|
NM_020686.6(ABAT):c.317-5C>G
|
rs781499078
|
|
NM_020686.6(ABAT):c.540+14CA[14]
|
rs35745596
|
|
NM_020686.6(ABAT):c.645C>A (p.Gly215=)
|
rs1139522
|
|
NM_020686.6(ABAT):c.667+7_667+8dup
|
rs748783252
|
|
NM_020975.6(RET):c.2523G>T (p.Pro841=)
|
rs56195026
|
|
NM_021615.5(CHST6):c.573C>G (p.Pro191=)
|
rs1044185449
|
|
NM_021625.5(TRPV4):c.1825-15C>G
|
rs200602134
|
|
NM_021625.5(TRPV4):c.195A>G (p.Pro65=)
|
rs1891742510
|
|
NM_021625.5(TRPV4):c.2433G>A (p.Ser811=)
|
rs34071623
|
|
NM_021922.3(FANCE):c.1263T>C (p.Cys421=)
|
rs747692546
|
|
NM_021922.3(FANCE):c.1593G>A (p.Leu531=)
|
rs886061332
|
|
NM_021922.3(FANCE):c.937C>T (p.Leu313=)
|
rs557021652
|
|
NM_022051.3(EGLN1):c.432C>T (p.Pro144=)
|
rs886046110
|
|
NM_022051.3(EGLN1):c.597G>C (p.Val199=)
|
rs563998083
|
|
NM_022124.6(CDH23):c.*588del
|
rs148667421
|
|
NM_022124.6(CDH23):c.4005C>G (p.Val1335=)
|
rs886047136
|
|
NM_022124.6(CDH23):c.4984C>T (p.Leu1662=)
|
rs886047139
|
|
NM_022124.6(CDH23):c.5727T>C (p.Thr1909=)
|
rs756919394
|
|
NM_022124.6(CDH23):c.588G>A (p.Glu196=)
|
rs886047129
|
|
NM_022124.6(CDH23):c.7482+12C>A
|
rs370000472
|
|
NM_022124.6(CDH23):c.7551C>T (p.Ser2517=)
|
rs886047140
|
|
NM_022124.6(CDH23):c.9739-12G>A
|
rs200638595
|
|
NM_022132.5(MCCC2):c.1572A>T (p.Ala524=)
|
rs886060738
|
|
NM_022367.4(SEMA4A):c.810+7G>A
|
rs568949451
|
|
NM_022436.3(ABCG5):c.905-3dup
|
rs142037828
|
|
NM_022464.5(SIL1):c.1017G>C (p.Leu339=)
|
rs769587333
|
|
NM_022464.5(SIL1):c.132G>A (p.Glu44=)
|
|
|
NM_022464.5(SIL1):c.196G>A (p.Val66Ile)
|
|
|
NM_022464.5(SIL1):c.645+15C>T
|
|
|
NM_024079.5(ALG8):c.441A>T (p.Val147=)
|
rs112109685
|
|
NM_024105.4(ALG12):c.1452C>T (p.Leu484=)
|
rs772352960
|
|
NM_024105.4(ALG12):c.470-12A>T
|
rs191669043
|
|
NM_024105.4(ALG12):c.48G>A (p.Leu16=)
|
rs143508665
|
|
NM_024105.4(ALG12):c.493C>T (p.Leu165=)
|
rs778040010
|
|
NM_024312.5(GNPTAB):c.1155A>C (p.Ser385=)
|
rs754258764
|
|
NM_024312.5(GNPTAB):c.2904A>C (p.Glu968Asp)
|
rs555336070
|
|
NM_024422.6(DSC2):c.1077+9A>G
|
rs369381870
|
|
NM_024422.6(DSC2):c.475-13A>G
|
rs751631188
|
|
NM_024422.6(DSC2):c.588T>C (p.Tyr196=)
|
rs1987518239
|
|
NM_024529.5(CDC73):c.-4dup
|
rs545666726
|
|
NM_024529.5(CDC73):c.834C>T (p.Pro278=)
|
rs886045714
|
|
NM_024577.4(SH3TC2):c.*10051ACCA[16]
|
rs57301725
|
|
NM_024577.4(SH3TC2):c.*16856CA[22]
|
rs71957589
|
|
NM_024577.4(SH3TC2):c.*19563_*19564dup
|
rs5872105
|
|
NM_024685.4(BBS10):c.1158G>A (p.Leu386=)
|
rs138702315
|
|
NM_024685.4(BBS10):c.147G>A (p.Arg49=)
|
rs1592493118
|
|
NM_024996.7(GFM1):c.56C>T (p.Ala19Val)
|
rs567086019
|
|
NM_025000.4(DCAF17):c.95A>C (p.Asn32Thr)
|
rs748586810
|
|
NM_025099.6(CTC1):c.2060+12G>A
|
rs1987317835
|
|
NM_025099.6(CTC1):c.2253A>G (p.Gly751=)
|
rs1164794062
|
|
NM_025137.4(SPG11):c.1558C>T (p.Leu520Phe)
|
rs557277528
|
|
NM_025137.4(SPG11):c.3132C>G (p.Ala1044=)
|
rs770666794
|
|
NM_025137.4(SPG11):c.3138C>T (p.Asn1046=)
|
rs2083512162
|
|
NM_025137.4(SPG11):c.4052G>A (p.Arg1351Lys)
|
rs564171625
|
|
NM_025137.4(SPG11):c.4162-10T>C
|
rs765557765
|
|
NM_025137.4(SPG11):c.4162-4C>T
|
rs777010404
|
|
NM_025137.4(SPG11):c.437A>G (p.Asp146Gly)
|
rs182535774
|
|
NM_025137.4(SPG11):c.6007-6T>C
|
rs886051180
|
|
NM_025137.4(SPG11):c.60G>C (p.Ala20=)
|
rs544136842
|
|
NM_025137.4(SPG11):c.6283T>C (p.Leu2095=)
|
rs2082448894
|
|
NM_025137.4(SPG11):c.6477+13del
|
rs574960359
|
|
NM_025137.4(SPG11):c.7000-8C>T
|
rs886051177
|
|
NM_025137.4(SPG11):c.7151+11A>C
|
rs779150349
|
|
NM_025243.4(SLC19A3):c.1204C>T (p.Arg402Cys)
|
rs150523975
|
|
NM_025243.4(SLC19A3):c.390G>T (p.Val130=)
|
rs376187918
|
|
NM_025243.4(SLC19A3):c.399C>G (p.Pro133=)
|
rs138363524
|
|
NM_030777.4(SLC2A10):c.1057C>G (p.Leu353Val)
|
rs200196034
|
|
NM_030777.4(SLC2A10):c.625C>T (p.Leu209=)
|
rs748662135
|
|
NM_030787.4(CFHR5):c.647A>G (p.Asn216Ser)
|
rs147488267
|
|
NM_030787.4(CFHR5):c.903T>C (p.Tyr301=)
|
rs886045751
|
|
NM_030787.4(CFHR5):c.993C>A (p.Cys331Ter)
|
rs751010317
|
|
NM_031433.4(MFRP):c.909G>C (p.Gly303=)
|
rs777996384
|
|
NM_031885.5(BBS2):c.118-16_118-13del
|
rs758674101
|
|
NM_032193.4(RNASEH2C):c.468+8G>A
|
rs751767695
|
|
NM_032382.5(COG8):c.1413+12C>G
|
rs977274573
|
|
NM_032444.4(SLX4):c.426T>A (p.Gly142=)
|
rs377500336
|
|
NM_032520.5(GNPTG):c.6G>T (p.Ala2=)
|
rs886051658
|
|
NM_032520.5(GNPTG):c.798C>T (p.His266=)
|
rs375787769
|
|
NM_032581.4(HYCC1):c.930T>G (p.Ser310=)
|
rs762598890
|
|
NM_032634.4(PIGO):c.1758C>T (p.Val586=)
|
rs144103228
|
|
NM_032634.4(PIGO):c.3141-9T>A
|
rs374227554
|
|
NM_032634.4(PIGO):c.387C>A (p.Thr129=)
|
rs765968784
|
|
NM_032977.4(CASP10):c.534A>G (p.Val178=)
|
rs146233833
|
|
NM_033022.4(RPS24):c.280-11_280-10del
|
rs756756010
|
|
NM_033028.5(BBS4):c.1451-6dup
|
rs770389663
|
|
NM_033056.4(PCDH15):c.5245CCT[3] (p.Pro1752del)
|
rs397517462
|
|
NM_033056.4(PCDH15):c.5281GCTCCT[1] (p.1761AP[1])
|
rs397517465
|
|
NM_033056.4(PCDH15):c.5486del (p.Pro1829fs)
|
rs1564532058
|
|
NM_033100.4(CDHR1):c.152-12_152-11del
|
rs767478332
|
|
NM_033100.4(CDHR1):c.159C>T (p.His53=)
|
rs12781048
|
|
NM_033159.4(HYAL1):c.1047G>A (p.Leu349=)
|
rs782279681
|
|
NM_033159.4(HYAL1):c.1176G>A (p.Thr392=)
|
rs587680396
|
|
NM_033305.3(VPS13A):c.7044T>A (p.Pro2348=)
|
rs143259810
|
|
NM_052813.5(CARD9):c.1090C>A (p.Arg364=)
|
rs151211588
|
|
NM_052813.5(CARD9):c.1104C>T (p.His368=)
|
rs145052557
|
|
NM_052859.4(RFT1):c.477G>C (p.Ser159=)
|
rs750521781
|
|
NM_052872.4(IL17F):c.456C>T (p.Cys152=)
|
rs1345707985
|
|
NM_052945.4(TNFRSF13C):c.255G>C (p.Leu85=)
|
rs544076556
|
|
NM_052989.3(IFT122):c.132C>G (p.Thr44=)
|
rs371772807
|
|
NM_052989.3(IFT122):c.2181C>T (p.Thr727=)
|
rs545131069
|
|
NM_053025.4(MYLK):c.*1174_*1177dup
|
rs146691098
|
|
NM_053025.4(MYLK):c.1968G>T (p.Trp656Cys)
|
rs138172035
|
|
NM_053025.4(MYLK):c.2760C>G (p.Ala920=)
|
rs368080781
|
|
NM_053025.4(MYLK):c.3024G>A (p.Val1008=)
|
rs886057860
|
|
NM_053025.4(MYLK):c.999G>T (p.Pro333=)
|
rs13319347
|
|
NM_054012.4(ASS1):c.323G>T (p.Arg108Leu)
|
rs35269064
|
|
NM_058216.3(RAD51C):c.404+13G>A
|
rs547506164
|
|
NM_058216.3(RAD51C):c.87T>C (p.Ser29=)
|
rs786203249
|
|
NM_080424.4(SP110):c.2029-7_2029-6del
|
rs773164340
|
|
NM_080424.4(SP110):c.829+15T>C
|
rs372230531
|
|
NM_080911.3(UNG):c.204C>G (p.Ala68=)
|
rs777436497
|
|
NM_080911.3(UNG):c.435+15T>A
|
rs765672149
|
|
NM_080911.3(UNG):c.825G>A (p.Thr275=)
|
rs765151419
|
|
NM_133259.4(LRPPRC):c.135C>T (p.Ala45=)
|
rs886056061
|
|
NM_133259.4(LRPPRC):c.1419T>C (p.Asp473=)
|
rs886056057
|
|
NM_133259.4(LRPPRC):c.346+9A>C
|
rs754438818
|
|
NM_133433.4(NIPBL):c.5979C>T (p.Asp1993=)
|
rs761030463
|
|
NM_133433.4(NIPBL):c.6402A>G (p.Leu2134=)
|
rs777430704
|
|
NM_133642.5(LARGE1):c.909T>G (p.Leu303=)
|
rs563144239
|
|
NM_138387.4(G6PC3):c.417-14T>C
|
rs2050055854
|
|
NM_138694.4(PKHD1):c.10883C>T (p.Thr3628Ile)
|
rs147700643
|
|
NM_138694.4(PKHD1):c.11901G>A (p.Val3967=)
|
rs751385266
|
|
NM_138694.4(PKHD1):c.158A>G (p.Asn53Ser)
|
rs141790557
|
|
NM_138694.4(PKHD1):c.208C>A (p.Pro70Thr)
|
rs781485593
|
|
NM_138694.4(PKHD1):c.2463C>G (p.Ala821=)
|
rs9474136
|
|
NM_138694.4(PKHD1):c.2463C>T (p.Ala821=)
|
rs9474136
|
|
NM_138694.4(PKHD1):c.281+13G>A
|
rs1812167147
|
|
NM_138694.4(PKHD1):c.6641A>G (p.His2214Arg)
|
rs778124617
|
|
NM_138694.4(PKHD1):c.7635C>G (p.Thr2545=)
|
rs779757789
|
|
NM_138694.4(PKHD1):c.888A>G (p.Pro296=)
|
rs76012218
|
|
NM_138694.4(PKHD1):c.904G>A (p.Val302Met)
|
rs779418460
|
|
NM_138694.4(PKHD1):c.9369G>T (p.Ala3123=)
|
rs745523374
|
|
NM_138694.4(PKHD1):c.9705T>A (p.Asn3235Lys)
|
rs759568939
|
|
NM_139319.3(SLC17A8):c.1631AGA[1] (p.Lys545del)
|
rs141689561
|
|
NM_139343.3(BIN1):c.1395G>C (p.Ala465=)
|
rs765870974
|
|
NM_139343.3(BIN1):c.1515C>G (p.Thr505=)
|
rs375583449
|
|
NM_139343.3(BIN1):c.168G>A (p.Thr56=)
|
rs528828320
|
|
NM_144573.4(NEXN):c.*4CT[1]
|
rs553696163
|
|
NM_144687.4(NLRP12):c.2046A>G (p.Ala682=)
|
rs886054608
|
|
NM_144997.7(FLCN):c.1482C>T (p.Asn494=)
|
rs1597578831
|
|
NM_144997.7(FLCN):c.250-7T>C
|
rs748857550
|
|
NM_152296.5(ATP1A3):c.1011C>T (p.Thr337=)
|
rs782312004
|
|
NM_152296.5(ATP1A3):c.15A>G (p.Lys5=)
|
rs886054476
|
|
NM_152296.5(ATP1A3):c.270C>T (p.Phe90=)
|
rs782539594
|
|
NM_152383.5(DIS3L2):c.1836G>A (p.Pro612=)
|
rs202227137
|
|
NM_152383.5(DIS3L2):c.2497-14T>C
|
rs1283433476
|
|
NM_152383.5(DIS3L2):c.951-8A>G
|
rs886055770
|
|
NM_152564.5(VPS13B):c.10011C>G (p.Ile3337Met)
|
rs542986432
|
|
NM_152564.5(VPS13B):c.10129C>T (p.Leu3377Phe)
|
rs535553836
|
|
NM_152564.5(VPS13B):c.11244G>A (p.Pro3748=)
|
rs375229257
|
|
NM_152564.5(VPS13B):c.1371T>G (p.Leu457=)
|
rs1810005490
|
|
NM_152564.5(VPS13B):c.2433A>T (p.Ile811=)
|
rs540795071
|
|
NM_152564.5(VPS13B):c.4746-13G>A
|
rs561446691
|
|
NM_152564.5(VPS13B):c.4861C>T (p.Pro1621Ser)
|
rs563705133
|
|
NM_152564.5(VPS13B):c.5908+14A>C
|
rs886062543
|
|
NM_152564.5(VPS13B):c.7461C>T (p.Ser2487=)
|
rs751190453
|
|
NM_153006.3(NAGS):c.630C>T (p.Asn210=)
|
rs2049080644
|
|
NM_153006.3(NAGS):c.681C>G (p.Ala227=)
|
rs886052982
|
|
NM_153006.3(NAGS):c.807C>T (p.Ser269=)
|
rs767368629
|
|
NM_153033.5(KCTD7):c.291C>T (p.Ile97=)
|
rs769023482
|
|
NM_153240.5(NPHP3):c.1525-5del
|
rs762115717
|
|
NM_153603.4(COG7):c.1005C>T (p.His335=)
|
rs532636981
|
|
NM_153603.4(COG7):c.1305T>C (p.Asp435=)
|
rs1019861391
|
|
NM_153638.4(PANK2):c.54A>G (p.Ser18=)
|
rs886056650
|
|
NM_172201.2(KCNE2):c.*11A>C
|
rs558860396
|
|
NM_174878.3(CLRN1):c.*277GT[16]
|
rs34027634
|
|
NM_174889.5(NDUFAF2):c.491del (p.Gly164fs)
|
rs753595274
|
|
NM_174936.4(PCSK9):c.1099G>C (p.Asp367His)
|
rs141867978
|
|
NM_174936.4(PCSK9):c.1660C>G (p.Gln554Glu)
|
|
|
NM_175914.5(HNF4A):c.224+17dup
|
rs371937621
|
|
NM_177438.3(DICER1):c.1080A>G (p.Glu360=)
|
rs886050943
|
|
NM_177438.3(DICER1):c.1089C>T (p.Phe363=)
|
rs878855239
|
|
NM_177438.3(DICER1):c.3690G>A (p.Gln1230=)
|
rs1555369473
|
|
NM_177438.3(DICER1):c.4795C>T (p.Arg1599Trp)
|
rs587778230
|
|
NM_181426.2(CCDC39):c.654T>C (p.Asn218=)
|
rs886058199
|
|
NM_182760.4(SUMF1):c.16C>T (p.Leu6=)
|
rs774160105
|
|
NM_182760.4(SUMF1):c.177C>T (p.Gly59=)
|
rs774739457
|
|
NM_182760.4(SUMF1):c.955-6C>G
|
rs886058518
|
|
NM_182894.3(VSX2):c.760+11G>A
|
rs777886580
|
|
NM_182894.3(VSX2):c.777G>T (p.Ser259=)
|
rs371707151
|
|
NM_182894.3(VSX2):c.810C>G (p.Pro270=)
|
rs759166720
|
|
NM_182914.3(SYNE2):c.17784G>A (p.Glu5928=)
|
rs572217007
|
|
NM_182914.3(SYNE2):c.4398-11T>A
|
rs2096801796
|
|
NM_183050.4(BCKDHB):c.51A>C (p.Ala17=)
|
rs376293687
|
|
NM_183050.4(BCKDHB):c.51A>G (p.Ala17=)
|
rs376293687
|
|
NM_194454.3(KRIT1):c.845+10C>G
|
rs372125478
|
|
NM_198506.5(LRIT3):c.1752_1754del (p.Leu585del)
|
rs145776307
|
|
NM_198525.3(KIF7):c.2059C>A (p.Arg687=)
|
rs138736028
|
|
NM_198525.3(KIF7):c.2079C>T (p.Val693=)
|
rs113112856
|
|
NM_198525.3(KIF7):c.2337G>A (p.Glu779=)
|
rs202089770
|
|
NM_198525.3(KIF7):c.2421G>A (p.Thr807=)
|
rs141497185
|
|
NM_198525.3(KIF7):c.3319-13G>A
|
rs371154050
|
|
NM_198525.3(KIF7):c.3519C>T (p.Asp1173=)
|
rs778389919
|
|
NM_198525.3(KIF7):c.418C>T (p.Leu140=)
|
rs756117745
|
|
NM_198525.3(KIF7):c.960G>A (p.Thr320=)
|
rs886051538
|
|
NM_198578.4(LRRK2):c.606C>T (p.Asn202=)
|
rs199854074
|
|
NM_198578.4(LRRK2):c.7296C>G (p.Gly2432=)
|
rs199964631
|
|
NM_198586.3(NHLRC1):c.195C>A (p.Ala65=)
|
rs370573413
|
|
NM_198904.4(GABRG2):c.1425G>A (p.Leu475=)
|
rs886060383
|
|
NM_198904.4(GABRG2):c.402C>G (p.Val134=)
|
rs562384157
|
|
NM_199242.3(UNC13D):c.147C>G (p.Pro49=)
|
rs749672259
|
|
NM_199242.3(UNC13D):c.147C>T (p.Pro49=)
|
rs749672259
|
|
NM_199242.3(UNC13D):c.1758C>T (p.His586=)
|
rs759891490
|
|
NM_199242.3(UNC13D):c.629T>G (p.Val210Gly)
|
rs553365957
|
|
NM_206933.4(USH2A):c.4252-36CTTT[7]
|
rs372388546
|
|
NM_206965.2(FTCD):c.1540-17_1540-16del
|
rs747091513
|
|
NM_207034.3(EDN3):c.*148_*149del
|
rs11475273
|
|
NM_207122.2(EXT2):c.198G>C (p.Val66=)
|
rs775542605
|
|
NM_213599.3(ANO5):c.*3290G>C
|
rs142126223
|
|
NM_213599.3(ANO5):c.138+10G>A
|
rs78987921
|
|
NM_213599.3(ANO5):c.2688C>G (p.Ala896=)
|
rs377549896
|
|
NM_213653.4(HJV):c.345C>T (p.Ile115=)
|
rs142575526
|
|
Single allele
|
|
|