NM_000051.4(ATM):c.2193C>T (p.Tyr731=)
|
rs2229019
|
0.01543
|
NM_006005.3(WFS1):c.2469C>T (p.Ile823=)
|
rs1801215
|
0.01494
|
NM_000110.4(DPYD):c.1236G>A (p.Glu412=)
|
rs56038477
|
0.01297
|
NM_000388.4(CASR):c.2610G>A (p.Glu870=)
|
rs143738711
|
0.01002
|
NM_016373.4(WWOX):c.885G>A (p.Arg295=)
|
rs79771882
|
0.00946
|
NM_004070.4(CLCNKA):c.2055T>C (p.Ala685=)
|
rs371202740
|
0.00922
|
NM_001378454.1(ALMS1):c.5463G>A (p.Pro1821=)
|
rs62151609
|
0.00915
|
NM_000426.4(LAMA2):c.7431A>T (p.Arg2477Ser)
|
rs34367843
|
0.00914
|
NM_000142.5(FGFR3):c.1345C>T (p.Pro449Ser)
|
rs61735104
|
0.00867
|
NM_025137.4(SPG11):c.808G>A (p.Val270Ile)
|
rs80338868
|
0.00845
|
NM_025137.4(SPG11):c.6258G>T (p.Leu2086=)
|
rs150761878
|
0.00781
|
NM_000141.5(FGFR2):c.294G>A (p.Thr98=)
|
rs1047101
|
0.00776
|
NM_006005.3(WFS1):c.2611G>A (p.Val871Met)
|
rs71532874
|
0.00761
|
NM_001267550.2(TTN):c.14984C>G (p.Pro4995Arg)
|
rs72648927
|
0.00729
|
NM_000497.4(CYP11B1):c.243C>T (p.Tyr81=)
|
rs9657022
|
0.00726
|
NM_001009944.3(PKD1):c.3513C>G (p.Thr1171=)
|
rs143784787
|
0.00720
|
NM_001195263.2(PDZD7):c.1613G>A (p.Gly538Glu)
|
rs112571971
|
0.00706
|
NM_024411.5(PDYN):c.436A>C (p.Met146Leu)
|
rs77155664
|
0.00698
|
NM_001039.4(SCNN1G):c.435C>T (p.Ser145=)
|
rs62639702
|
0.00695
|
NM_015559.3(SETBP1):c.3618T>C (p.His1206=)
|
rs34882016
|
0.00689
|
NM_080680.3(COL11A2):c.1782C>T (p.Asp594=)
|
rs41266697
|
0.00686
|
NM_022124.6(CDH23):c.1096G>A (p.Ala366Thr)
|
rs143282422
|
0.00680
|
NM_182961.4(SYNE1):c.8164G>A (p.Val2722Ile)
|
rs151091241
|
0.00676
|
NM_005422.4(TECTA):c.5012C>T (p.Ser1671Leu)
|
rs142948530
|
0.00672
|
NM_005529.7(HSPG2):c.5755C>T (p.Arg1919Cys)
|
rs2229474
|
0.00657
|
NM_031844.3(HNRNPU):c.2169C>T (p.Ala723=)
|
rs11537737
|
0.00657
|
NM_198576.4(AGRN):c.3465T>C (p.Ala1155=)
|
rs146358566
|
0.00657
|
NM_018136.5(ASPM):c.3741+3A>G
|
rs138558822
|
0.00656
|
NM_004082.5(DCTN1):c.3529+5G>A
|
rs72466494
|
0.00644
|
NM_000337.6(SGCD):c.294+8T>C
|
rs11748588
|
0.00640
|
NM_001292063.2(OTOG):c.3351G>A (p.Pro1117=)
|
rs146781877
|
0.00639
|
NM_001009944.3(PKD1):c.4071G>T (p.Leu1357=)
|
rs145737766
|
0.00637
|
NM_198576.4(AGRN):c.3866C>T (p.Pro1289Leu)
|
rs139294803
|
0.00637
|
NM_024665.7(TBL1XR1):c.669A>G (p.Pro223=)
|
rs61750378
|
0.00631
|
NM_000540.3(RYR1):c.14589C>T (p.Phe4863=)
|
rs146072491
|
0.00628
|
NM_001267550.2(TTN):c.91573A>G (p.Ile30525Val)
|
rs72648244
|
0.00625
|
NM_014874.4(MFN2):c.2113G>A (p.Val705Ile)
|
rs142271930
|
0.00621
|
NM_001009944.3(PKD1):c.8964G>A (p.Ala2988=)
|
rs76184385
|
0.00619
|
NM_014846.4(WASHC5):c.3319G>A (p.Val1107Met)
|
rs138407503
|
0.00618
|
NM_025243.4(SLC19A3):c.309G>A (p.Val103=)
|
rs142837989
|
0.00618
|
NM_182961.4(SYNE1):c.1964A>G (p.Gln655Arg)
|
rs9397509
|
0.00615
|
NM_000089.4(COL1A2):c.1036-12A>G
|
rs41316929
|
0.00613
|
NM_001267550.2(TTN):c.101212C>T (p.Arg33738Cys)
|
rs56273463
|
0.00613
|
NM_015634.4(KIFBP):c.518T>C (p.Met173Thr)
|
rs62625033
|
0.00610
|
NM_001267550.2(TTN):c.83063G>A (p.Arg27688His)
|
rs185002960
|
0.00608
|
NM_021098.3(CACNA1H):c.2881C>T (p.Leu961=)
|
rs58615599
|
0.00607
|
NM_001378609.3(OTOGL):c.5710G>A (p.Asp1904Asn)
|
rs145653077
|
0.00603
|
NM_201384.3(PLEC):c.2961C>T (p.Ser987=)
|
rs149932255
|
0.00603
|
NM_152743.4(BRAT1):c.866G>C (p.Cys289Ser)
|
rs140451075
|
0.00598
|
NM_001365999.1(SZT2):c.6543A>G (p.Leu2181=)
|
rs112461557
|
0.00596
|
NM_206933.4(USH2A):c.7685T>C (p.Val2562Ala)
|
rs56385601
|
0.00586
|
NM_006012.4(CLPP):c.368-8G>A
|
rs143053584
|
0.00583
|
NM_021625.5(TRPV4):c.810G>A (p.Gly270=)
|
rs147558344
|
0.00582
|
NM_001145026.2(PTPRQ):c.5061T>C (p.Pro1687=)
|
rs186848048
|
0.00581
|
NM_001130987.2(DYSF):c.1216G>C (p.Val406Leu)
|
rs150724610
|
0.00580
|
NM_001161352.2(KCNMA1):c.3195C>T (p.Thr1065=)
|
rs45527834
|
0.00578
|
NM_025243.4(SLC19A3):c.421G>A (p.Gly141Ser)
|
rs148144444
|
0.00577
|
NM_000335.5(SCN5A):c.1587T>C (p.Ile529=)
|
rs45624133
|
0.00575
|
NM_173354.5(SIK1):c.1463-7C>T
|
rs142866662
|
0.00575
|
NM_005619.5(RTN2):c.1143G>A (p.Ala381=)
|
rs45532933
|
0.00572
|
NM_182961.4(SYNE1):c.24952C>T (p.Leu8318Phe)
|
rs141716975
|
0.00570
|
NM_022173.4(TIA1):c.1070A>G (p.Asn357Ser)
|
rs116621885
|
0.00569
|
NM_201384.3(PLEC):c.9961G>A (p.Gly3321Arg)
|
rs34132016
|
0.00569
|
NM_001195248.2(APTX):c.431C>A (p.Ser144Tyr)
|
rs34778324
|
0.00568
|
NM_020247.5(COQ8A):c.291C>T (p.Ser97=)
|
rs111529228
|
0.00567
|
NM_001292063.2(OTOG):c.8542-8C>T
|
rs182750732
|
0.00565
|
NM_000260.4(MYO7A):c.4074C>T (p.Ser1358=)
|
rs78996818
|
0.00559
|
NM_030665.4(RAI1):c.4512G>T (p.Leu1504=)
|
rs117995220
|
0.00559
|
NM_000426.4(LAMA2):c.4437-5T>A
|
rs41285288
|
0.00557
|
NM_032634.4(PIGO):c.1473G>C (p.Leu491=)
|
rs76932500
|
0.00557
|
NM_014208.3(DSPP):c.1259T>C (p.Val420Ala)
|
rs191967636
|
0.00555
|
NM_003119.4(SPG7):c.1457G>A (p.Arg486Gln)
|
rs111475461
|
0.00551
|
NM_005619.5(RTN2):c.444C>G (p.Gly148=)
|
rs139232850
|
0.00550
|
NM_001039.4(SCNN1G):c.589G>A (p.Glu197Lys)
|
rs5738
|
0.00548
|
NM_024589.3(ROGDI):c.713G>A (p.Arg238His)
|
rs138409264
|
0.00548
|
NM_000426.4(LAMA2):c.4470C>T (p.Asp1490=)
|
rs35089085
|
0.00547
|
NM_182961.4(SYNE1):c.12000G>A (p.Ala4000=)
|
rs148493518
|
0.00546
|
NM_001267550.2(TTN):c.32624C>T (p.Pro10875Leu)
|
rs72650031
|
0.00544
|
NM_153638.4(PANK2):c.276G>A (p.Arg92=)
|
rs142832849
|
0.00544
|
NM_006420.3(ARFGEF2):c.169C>T (p.Pro57Ser)
|
rs73113975
|
0.00540
|
NM_032229.3(SLITRK6):c.2195G>A (p.Gly732Glu)
|
rs74591375
|
0.00539
|
NM_000834.5(GRIN2B):c.3498C>T (p.Ser1166=)
|
rs45600931
|
0.00538
|
NM_198576.4(AGRN):c.5025C>T (p.Gly1675=)
|
rs147990356
|
0.00536
|
NM_001267550.2(TTN):c.39709+6C>T
|
rs72650067
|
0.00533
|
NM_022489.4(INF2):c.3108T>C (p.Leu1036=)
|
rs186075307
|
0.00532
|
NM_001267550.2(TTN):c.104560G>C (p.Val34854Leu)
|
rs55866005
|
0.00531
|
NM_001267550.2(TTN):c.10242C>T (p.Tyr3414=)
|
rs45447891
|
0.00530
|
NM_000400.4(ERCC2):c.1238-1155C>G
|
rs41275762
|
0.00529
|
NM_001370298.3(FGD4):c.1971C>T (p.Ile657=)
|
rs61748364
|
0.00526
|
NM_003919.3(SGCE):c.391-79G>T
|
rs545885131
|
0.00525
|
NM_002180.3(IGHMBP2):c.741C>T (p.Ala247=)
|
rs76707931
|
0.00520
|
NM_006922.4(SCN3A):c.3250G>A (p.Val1084Ile)
|
rs140990288
|
0.00518
|
NM_022124.6(CDH23):c.1449+76C>A
|
rs41281304
|
0.00518
|
NM_002180.3(IGHMBP2):c.1104C>T (p.Tyr368=)
|
rs148157556
|
0.00517
|
NM_198576.4(AGRN):c.1123G>T (p.Ala375Ser)
|
rs138031468
|
0.00517
|
NM_002693.3(POLG):c.1550G>T (p.Gly517Val)
|
rs61752783
|
0.00516
|
NM_001009944.3(PKD1):c.5682C>T (p.Ala1894=)
|
rs144634185
|
0.00512
|
NM_001267550.2(TTN):c.45408G>T (p.Lys15136Asn)
|
rs72677225
|
0.00512
|
NM_031475.3(ESPN):c.2070G>A (p.Ser690=)
|
rs142850918
|
0.00511
|
NM_001009944.3(PKD1):c.4546G>A (p.Ala1516Thr)
|
rs148164067
|
0.00508
|
NM_001009944.3(PKD1):c.8439C>T (p.Ser2813=)
|
rs117856830
|
0.00507
|
NM_005045.4(RELN):c.6084C>T (p.Gly2028=)
|
rs114019779
|
0.00507
|
NM_033109.5(PNPT1):c.1251G>A (p.Gly417=)
|
rs146111948
|
0.00507
|
NM_014363.6(SACS):c.6781C>A (p.Leu2261Ile)
|
rs146722795
|
0.00506
|
NM_000257.4(MYH7):c.3153G>A (p.Ala1051=)
|
rs45540831
|
0.00505
|
NM_001267550.2(TTN):c.98390A>G (p.Asn32797Ser)
|
rs149001703
|
0.00504
|
NM_201384.3(PLEC):c.9925C>T (p.Arg3309Cys)
|
rs77303974
|
0.00503
|
NM_001365536.1(SCN9A):c.3767A>G (p.Asn1256Ser)
|
rs141268327
|
0.00496
|
NM_000070.3(CAPN3):c.318C>T (p.Cys106=)
|
rs117609395
|
0.00495
|
NM_001009944.3(PKD1):c.8293C>T (p.Arg2765Cys)
|
rs144979397
|
0.00495
|
NM_014625.4(NPHS2):c.87C>G (p.Ala29=)
|
rs12123397
|
0.00495
|
NM_006158.5(NEFL):c.667C>T (p.Leu223=)
|
rs60156239
|
0.00494
|
NM_001267550.2(TTN):c.24973A>G (p.Lys8325Glu)
|
rs72648984
|
0.00493
|
NM_001130987.2(DYSF):c.3946A>G (p.Ile1316Val)
|
rs121908954
|
0.00491
|
NM_020822.3(KCNT1):c.3295C>T (p.Pro1099Ser)
|
rs200642629
|
0.00491
|
NM_001166114.2(PNPLA6):c.4078G>A (p.Gly1360Ser)
|
rs145178162
|
0.00490
|
NM_020247.5(COQ8A):c.1185C>T (p.Ile395=)
|
rs17849927
|
0.00488
|
NM_022124.6(CDH23):c.5544C>T (p.Asp1848=)
|
rs142131750
|
0.00488
|
NM_004999.4(MYO6):c.2982G>A (p.Glu994=)
|
rs55905349
|
0.00487
|
NM_033305.3(VPS13A):c.5979C>T (p.Arg1993=)
|
rs41289971
|
0.00487
|
NM_000091.5(COL4A3):c.346C>A (p.Pro116Thr)
|
rs115324397
|
0.00485
|
NM_002156.5(HSPD1):c.27C>G (p.Arg9=)
|
rs11551349
|
0.00481
|
NM_000092.5(COL4A4):c.1833T>C (p.Gly611=)
|
rs145806603
|
0.00479
|
NM_001122659.3(EDNRB):c.169G>A (p.Gly57Ser)
|
rs1801710
|
0.00475
|
NM_182961.4(SYNE1):c.1878A>G (p.Gln626=)
|
rs62427038
|
0.00474
|
NM_001267550.2(TTN):c.17048A>G (p.Tyr5683Cys)
|
rs72648942
|
0.00471
|
NM_022089.4(ATP13A2):c.132A>G (p.Pro44=)
|
rs200816691
|
0.00471
|
NM_001244008.2(KIF1A):c.4604C>T (p.Ala1535Val)
|
rs141441058
|
0.00470
|
NM_001378452.1(ITPR1):c.2226G>A (p.Ala742=)
|
rs41289636
|
0.00470
|
NM_004320.6(ATP2A1):c.663C>G (p.Gly221=)
|
rs113803159
|
0.00468
|
NM_032119.4(ADGRV1):c.10936T>C (p.Ser3646Pro)
|
rs13171868
|
0.00467
|
NM_001166114.2(PNPLA6):c.1457C>T (p.Pro486Leu)
|
rs145191932
|
0.00466
|
NM_001130987.2(DYSF):c.777C>T (p.Ile259=)
|
rs138054675
|
0.00464
|
NM_000336.3(SCNN1B):c.245C>G (p.Ser82Cys)
|
rs35731153
|
0.00463
|
NM_000360.4(TH):c.16G>A (p.Ala6Thr)
|
rs74555599
|
0.00462
|
NM_004082.5(DCTN1):c.586A>G (p.Ile196Val)
|
rs55862001
|
0.00462
|
NM_182914.3(SYNE2):c.7162G>A (p.Glu2388Lys)
|
rs200842904
|
0.00462
|
NM_001330078.2(NRXN1):c.2122C>A (p.Leu708Ile)
|
rs56086732
|
0.00458
|
NM_000083.3(CLCN1):c.899G>A (p.Arg300Gln)
|
rs118066140
|
0.00457
|
NM_001039141.3(TRIOBP):c.391G>A (p.Gly131Ser)
|
rs144634857
|
0.00455
|
NM_130839.5(UBE3A):c.2124+9T>C
|
rs79328837
|
0.00454
|
NM_003672.4(CDC14A):c.819C>G (p.Ala273=)
|
rs28364884
|
0.00453
|
NM_203446.3(SYNJ1):c.6G>A (p.Ala2=)
|
rs61750221
|
0.00452
|
NM_006279.5(ST3GAL3):c.636C>T (p.Gly212=)
|
rs12140044
|
0.00451
|
NM_015340.4(LARS2):c.1552G>A (p.Asp518Asn)
|
rs116826217
|
0.00451
|
NM_003119.4(SPG7):c.1032C>T (p.Gly344=)
|
rs116319889
|
0.00450
|
NM_005619.5(RTN2):c.351A>G (p.Gln117=)
|
rs144028452
|
0.00450
|
NM_001042517.2(DIAPH3):c.2317T>C (p.Phe773Leu)
|
rs35579086
|
0.00443
|
NM_000051.4(ATM):c.5558A>T (p.Asp1853Val)
|
rs1801673
|
0.00441
|
NM_001003800.2(BICD2):c.269A>G (p.Lys90Arg)
|
rs61754130
|
0.00437
|
NM_000352.6(ABCC8):c.354C>T (p.Val118=)
|
rs137873871
|
0.00434
|
NM_004369.4(COL6A3):c.1182C>T (p.Thr394=)
|
rs114750216
|
0.00432
|
NM_182961.4(SYNE1):c.23315G>A (p.Arg7772Gln)
|
rs138787771
|
0.00432
|
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_032119.4(ADGRV1):c.5525-7C>T
|
rs137853919
|
0.00429
|
NM_201384.3(PLEC):c.4366G>A (p.Val1456Met)
|
rs186848953
|
0.00427
|
NM_015295.3(SMCHD1):c.1419A>G (p.Glu473=)
|
rs117771893
|
0.00426
|
NM_198576.4(AGRN):c.4352C>T (p.Pro1451Leu)
|
rs144620006
|
0.00426
|
NM_014625.4(NPHS2):c.59C>T (p.Pro20Leu)
|
rs74315344
|
0.00425
|
NM_000170.3(GLDC):c.1705G>A (p.Ala569Thr)
|
rs151268759
|
0.00419
|
NM_001083961.2(WDR62):c.3946C>G (p.Gln1316Glu)
|
rs35811023
|
0.00416
|
NM_012233.3(RAB3GAP1):c.1006C>T (p.Arg336Cys)
|
rs150478342
|
0.00415
|
NM_182961.4(SYNE1):c.11187G>T (p.Lys3729Asn)
|
rs143070183
|
0.00415
|
NM_152564.5(VPS13B):c.7152G>A (p.Pro2384=)
|
rs61753725
|
0.00412
|
NM_001384140.1(PCDH15):c.3502-8C>T
|
rs184144118
|
0.00411
|
NM_000335.5(SCN5A):c.717C>T (p.Ile239=)
|
rs41285129
|
0.00407
|
NM_203446.3(SYNJ1):c.573A>G (p.Thr191=)
|
rs61756694
|
0.00406
|
NM_000170.3(GLDC):c.2113G>A (p.Val705Met)
|
rs147275962
|
0.00405
|
NM_001267550.2(TTN):c.9359G>A (p.Arg3120Gln)
|
rs72647894
|
0.00404
|
NM_201384.3(PLEC):c.7074G>A (p.Ala2358=)
|
rs146381488
|
0.00404
|
NM_201525.4(ADGRG1):c.844G>C (p.Gly282Arg)
|
rs146704802
|
0.00404
|
NM_001267550.2(TTN):c.72132T>C (p.Gly24044=)
|
rs56169243
|
0.00400
|
NM_004646.4(NPHS1):c.1170+8G>A
|
rs140808195
|
0.00400
|
NM_201384.3(PLEC):c.5304G>A (p.Leu1768=)
|
rs186670912
|
0.00400
|
NM_001034116.2(EIF2B4):c.1392A>G (p.Gln464=)
|
rs148810263
|
0.00399
|
NM_005591.4(MRE11):c.1475C>A (p.Ala492Asp)
|
rs61749249
|
0.00399
|
NM_005592.4(MUSK):c.398T>C (p.Ile133Thr)
|
rs55980069
|
0.00399
|
NM_001376256.1(CRYM):c.807T>C (p.Phe269=)
|
rs144588424
|
0.00398
|
NM_014845.6(FIG4):c.27C>T (p.Ile9=)
|
rs141040807
|
0.00398
|
NM_182961.4(SYNE1):c.10037C>A (p.Ser3346Tyr)
|
rs150170988
|
0.00396
|
NM_182961.4(SYNE1):c.10056T>C (p.Ser3352=)
|
rs140861713
|
0.00395
|
NM_001128840.3(CACNA1D):c.954G>A (p.Ala318=)
|
rs147336902
|
0.00391
|
NM_001378452.1(ITPR1):c.1480G>A (p.Val494Ile)
|
rs41289628
|
0.00391
|
NM_032119.4(ADGRV1):c.8691A>C (p.Glu2897Asp)
|
rs201586455
|
0.00391
|
NM_001127222.2(CACNA1A):c.3040G>A (p.Glu1014Lys)
|
rs16024
|
0.00390
|
NM_000161.3(GCH1):c.68C>T (p.Pro23Leu)
|
rs41298432
|
0.00389
|
NM_001009944.3(PKD1):c.5611G>A (p.Ala1871Thr)
|
rs144137200
|
0.00389
|
NM_182961.4(SYNE1):c.1983C>T (p.Asn661=)
|
rs149670417
|
0.00388
|
NM_004172.5(SLC1A3):c.792G>A (p.Gly264=)
|
rs139659178
|
0.00387
|
NM_001365536.1(SCN9A):c.1398C>T (p.Ser466=)
|
rs201531206
|
0.00386
|
NM_175914.5(HNF4A):c.1137C>T (p.Asn379=)
|
rs61737145
|
0.00384
|
NM_006790.3(MYOT):c.1008G>T (p.Val336=)
|
rs142828368
|
0.00381
|
NM_014231.5(VAMP1):c.*1630C>T
|
rs71584837
|
0.00380
|
NM_182961.4(SYNE1):c.6135T>G (p.Ile2045Met)
|
rs116600265
|
0.00379
|
NM_001077365.2(POMT1):c.2060C>T (p.Ala687Val)
|
rs138171526
|
0.00378
|
NM_001267550.2(TTN):c.30274C>T (p.His10092Tyr)
|
rs72650011
|
0.00378
|
NM_001286445.3(RIPOR2):c.1764T>C (p.Asn588=)
|
rs145837095
|
0.00378
|
NM_000548.5(TSC2):c.4638C>T (p.Ala1546=)
|
rs45517354
|
0.00377
|
NM_001267550.2(TTN):c.98242C>T (p.Arg32748Cys)
|
rs72648272
|
0.00377
|
NM_153026.3(PRICKLE1):c.108C>T (p.Val36=)
|
rs147268650
|
0.00376
|
NM_003900.5(SQSTM1):c.984G>A (p.Ser328=)
|
rs146164139
|
0.00374
|
NM_005529.7(HSPG2):c.3269G>A (p.Arg1090Gln)
|
rs78889849
|
0.00373
|
NM_001161352.2(KCNMA1):c.3240C>T (p.Asn1080=)
|
rs45586138
|
0.00372
|
NM_001267550.2(TTN):c.69130C>T (p.Pro23044Ser)
|
rs55980498
|
0.00372
|
NM_001244008.2(KIF1A):c.3259C>T (p.Pro1087Ser)
|
rs143037290
|
0.00369
|
NM_003896.4(ST3GAL5):c.648C>T (p.Phe216=)
|
rs149309844
|
0.00369
|
NM_018451.5(CENPJ):c.1233G>A (p.Pro411=)
|
rs112133852
|
0.00368
|
NM_001005361.3(DNM2):c.2543+7C>G
|
rs201979143
|
0.00364
|
NM_001009944.3(PKD1):c.4845C>T (p.Asn1615=)
|
rs141557400
|
0.00364
|
NM_001267550.2(TTN):c.72931A>G (p.Thr24311Ala)
|
rs56201325
|
0.00364
|
NM_021072.4(HCN1):c.140G>T (p.Gly47Val)
|
rs544994462
|
0.00362
|
NM_005045.4(RELN):c.5108C>G (p.Pro1703Arg)
|
rs2229860
|
0.00361
|
NM_001267550.2(TTN):c.101665G>A (p.Val33889Ile)
|
rs34924609
|
0.00359
|
NM_182961.4(SYNE1):c.3188T>C (p.Val1063Ala)
|
rs141464488
|
0.00359
|
NM_005529.7(HSPG2):c.1082C>A (p.Thr361Asn)
|
rs75467696
|
0.00357
|
NM_001243133.2(NLRP3):c.1389C>T (p.His463=)
|
rs111400208
|
0.00354
|
NM_017668.3(NDE1):c.486C>T (p.Leu162=)
|
rs140251634
|
0.00354
|
NM_020822.3(KCNT1):c.2376C>T (p.Asp792=)
|
rs149028586
|
0.00351
|
NM_000484.4(APP):c.2124C>T (p.Gly708=)
|
rs148888161
|
0.00348
|
NM_015046.7(SETX):c.472T>G (p.Leu158Val)
|
rs145438764
|
0.00347
|
NM_000156.6(GAMT):c.79T>C (p.Tyr27His)
|
rs200833152
|
0.00345
|
NM_014208.3(DSPP):c.1060C>T (p.Arg354Cys)
|
rs61731011
|
0.00345
|
NM_001267550.2(TTN):c.88394C>T (p.Ser29465Phe)
|
rs146181116
|
0.00343
|
NM_000142.5(FGFR3):c.1150T>C (p.Phe384Leu)
|
rs17881656
|
0.00342
|
NM_194248.3(OTOF):c.2215-77T>G
|
rs76130130
|
0.00341
|
NM_014141.6(CNTNAP2):c.1311C>T (p.Ile437=)
|
rs56356283
|
0.00340
|
NM_001080476.3(GRXCR1):c.272G>T (p.Gly91Val)
|
rs113203706
|
0.00339
|
NM_000170.3(GLDC):c.678C>T (p.His226=)
|
rs12006003
|
0.00338
|
NM_000426.4(LAMA2):c.4487C>T (p.Ala1496Val)
|
rs147077184
|
0.00338
|
NM_001365999.1(SZT2):c.7562T>C (p.Val2521Ala)
|
rs150113647
|
0.00337
|
NM_175875.5(SIX5):c.732G>A (p.Gln244=)
|
rs141944211
|
0.00335
|
NM_001199107.2(TBC1D24):c.1500G>A (p.Ala500=)
|
rs201059992
|
0.00334
|
NM_001267550.2(TTN):c.10114+5G>A
|
rs115985443
|
0.00334
|
NM_001376.5(DYNC1H1):c.10293C>T (p.Asn3431=)
|
rs75075497
|
0.00332
|
NM_014363.6(SACS):c.8339T>G (p.Phe2780Cys)
|
rs111540787
|
0.00332
|
NM_004977.3(KCNC3):c.1771A>G (p.Ser591Gly)
|
rs549394447
|
0.00331
|
NM_000748.3(CHRNB2):c.1233G>A (p.Ala411=)
|
rs55857552
|
0.00330
|
NM_001080414.4(CCDC88C):c.4265C>T (p.Ser1422Leu)
|
rs202217944
|
0.00330
|
NM_001009944.3(PKD1):c.11976C>G (p.Ala3992=)
|
rs112387277
|
0.00329
|
NM_024596.5(MCPH1):c.477A>T (p.Ser159=)
|
rs41313948
|
0.00328
|
NM_057176.3(BSND):c.459C>T (p.Asp153=)
|
rs138974602
|
0.00328
|
NM_201384.3(PLEC):c.10759C>T (p.Leu3587=)
|
rs200006106
|
0.00326
|
NM_001032221.6(STXBP1):c.247-8A>G
|
rs199827018
|
0.00325
|
NM_001271.4(CHD2):c.4138-6T>C
|
rs182330071
|
0.00325
|
NM_001077365.2(POMT1):c.1698C>T (p.Ser566=)
|
rs150814269
|
0.00324
|
NM_001199107.2(TBC1D24):c.1326C>T (p.Tyr442=)
|
rs184639841
|
0.00324
|
NM_001244008.2(KIF1A):c.183+7C>T
|
rs74469870
|
0.00324
|
NM_022089.4(ATP13A2):c.1614C>T (p.Pro538=)
|
rs56351817
|
0.00324
|
NM_001330078.2(NRXN1):c.1285C>T (p.Pro429Ser)
|
rs78540316
|
0.00323
|
NM_000162.5(GCK):c.1019+18G>A
|
rs150914617
|
0.00322
|
NM_001165963.4(SCN1A):c.1131A>C (p.Arg377=)
|
rs114137271
|
0.00322
|
NM_005529.7(HSPG2):c.11475C>T (p.Ile3825=)
|
rs111866498
|
0.00321
|
NM_201384.3(PLEC):c.7267G>A (p.Ala2423Thr)
|
rs193257576
|
0.00321
|
NM_001164508.2(NEB):c.5968G>A (p.Glu1990Lys)
|
rs146310692
|
0.00320
|
NM_021098.3(CACNA1H):c.2967C>T (p.Ser989=)
|
rs59090452
|
0.00320
|
NM_015346.4(ZFYVE26):c.7055C>T (p.Thr2352Ile)
|
rs151166497
|
0.00319
|
NM_001384140.1(PCDH15):c.1039C>T (p.Leu347Phe)
|
rs111033436
|
0.00318
|
NM_001267550.2(TTN):c.26466C>G (p.Ala8822=)
|
rs140003804
|
0.00317
|
NM_033337.3(CAV3):c.233C>T (p.Thr78Met)
|
rs72546668
|
0.00317
|
NM_032119.4(ADGRV1):c.18273A>G (p.Ala6091=)
|
rs137853918
|
0.00316
|
NM_001127222.2(CACNA1A):c.1698C>T (p.Ile566=)
|
rs190603219
|
0.00314
|
NM_001958.5(EEF1A2):c.1030-8G>A
|
rs112283537
|
0.00314
|
NM_182961.4(SYNE1):c.2882G>A (p.Arg961Gln)
|
rs76646638
|
0.00314
|
NM_005529.7(HSPG2):c.10498G>A (p.Val3500Met)
|
rs143543800
|
0.00313
|
NM_002292.4(LAMB2):c.3858G>T (p.Val1286=)
|
rs34967349
|
0.00312
|
NM_001083961.2(WDR62):c.3812C>T (p.Ala1271Val)
|
rs111294536
|
0.00310
|
NM_001110792.2(MECP2):c.1225G>A (p.Glu409Lys)
|
rs56268439
|
0.00308
|
NM_002693.3(POLG):c.2481-7C>T
|
rs2307448
|
0.00307
|
NM_000426.4(LAMA2):c.4935C>A (p.Thr1645=)
|
rs35579821
|
0.00306
|
NM_001199107.2(TBC1D24):c.1196C>T (p.Thr399Met)
|
rs61731477
|
0.00306
|
NM_024577.4(SH3TC2):c.3686A>T (p.Asp1229Val)
|
rs146920285
|
0.00306
|
NM_005529.7(HSPG2):c.10937G>A (p.Arg3646His)
|
rs112062179
|
0.00305
|
NM_001371596.2(MFSD8):c.1041A>G (p.Val347=)
|
rs148291156
|
0.00302
|
NM_001376.5(DYNC1H1):c.1587C>T (p.Asn529=)
|
rs138418906
|
0.00302
|
NM_153026.3(PRICKLE1):c.114G>A (p.Pro38=)
|
rs141743294
|
0.00302
|
NM_198576.4(AGRN):c.4839C>T (p.Cys1613=)
|
rs113020870
|
0.00302
|
NM_001122955.4(BSCL2):c.1280T>C (p.Leu427Pro)
|
rs145649423
|
0.00301
|
NM_001267550.2(TTN):c.61100G>A (p.Arg20367Gln)
|
rs141973925
|
0.00301
|
NM_014043.4(CHMP2B):c.34+8C>T
|
rs35413339
|
0.00300
|
NM_001958.5(EEF1A2):c.1296G>A (p.Thr432=)
|
rs200259257
|
0.00299
|
NM_022124.6(CDH23):c.2878G>A (p.Glu960Lys)
|
rs111033458
|
0.00299
|
NM_022124.6(CDH23):c.7722C>T (p.Tyr2574=)
|
rs111033483
|
0.00295
|
NM_015046.7(SETX):c.2216G>A (p.Gly739Glu)
|
rs36024203
|
0.00293
|
NM_000142.5(FGFR3):c.393G>A (p.Ser131=)
|
rs55662109
|
0.00292
|
NM_014363.6(SACS):c.3129A>G (p.Ser1043=)
|
rs148878361
|
0.00292
|
NM_001371623.1(TCOF1):c.1281G>A (p.Ala427=)
|
rs113299143
|
0.00291
|
NM_001009944.3(PKD1):c.6488G>A (p.Arg2163Gln)
|
rs145217118
|
0.00290
|
NM_001267550.2(TTN):c.69716-5C>G
|
rs72646886
|
0.00290
|
NM_001267550.2(TTN):c.94851T>A (p.Asp31617Glu)
|
rs72648256
|
0.00290
|
NM_001367561.1(DOCK7):c.1047C>T (p.Val349=)
|
rs139793443
|
0.00290
|
NM_007254.4(PNKP):c.939T>C (p.Phe313=)
|
rs149731642
|
0.00290
|
NM_001112741.2(KCNC1):c.1236C>T (p.Ser412=)
|
rs73424033
|
0.00289
|
NM_014625.4(NPHS2):c.447C>T (p.Gly149=)
|
rs139111416
|
0.00289
|
NM_022124.6(CDH23):c.2970C>T (p.Asp990=)
|
rs56216952
|
0.00289
|
NM_001267550.2(TTN):c.34864G>A (p.Val11622Ile)
|
rs202014478
|
0.00288
|
NM_181882.3(PRX):c.3846G>A (p.Ser1282=)
|
rs143289108
|
0.00288
|
NM_198576.4(AGRN):c.2067G>A (p.Gln689=)
|
rs139886237
|
0.00288
|
NM_000051.4(ATM):c.3993+5G>T
|
rs3092842
|
0.00287
|
NM_001267550.2(TTN):c.47315G>A (p.Arg15772Gln)
|
rs72677233
|
0.00287
|
NM_001614.5(ACTG1):c.714G>A (p.Lys238=)
|
rs11549173
|
0.00287
|
NM_004082.5(DCTN1):c.3746C>T (p.Thr1249Ile)
|
rs72466496
|
0.00287
|
NM_004977.3(KCNC3):c.1404C>T (p.Tyr468=)
|
rs35578310
|
0.00287
|
NM_005045.4(RELN):c.3651C>G (p.Ile1217Met)
|
rs56342240
|
0.00287
|
NM_021098.3(CACNA1H):c.4039-4G>A
|
rs57315342
|
0.00287
|
NM_000503.6(EYA1):c.840C>A (p.Ile280=)
|
rs55972891
|
0.00286
|
NM_001376.5(DYNC1H1):c.5298G>T (p.Leu1766=)
|
rs149395439
|
0.00286
|
NM_006883.2(SHOX):c.676T>C (p.Ter226Arg)
|
rs778160013
|
0.00286
|
NM_016356.5(DCDC2):c.1044C>T (p.Asp348=)
|
rs143313706
|
0.00286
|
NM_001378454.1(ALMS1):c.1267G>A (p.Val423Ile)
|
rs45630557
|
0.00285
|
NM_001267550.2(TTN):c.38336T>C (p.Val12779Ala)
|
rs2099130
|
0.00284
|
NM_182961.4(SYNE1):c.2995G>A (p.Glu999Lys)
|
rs148346599
|
0.00283
|
NM_001267550.2(TTN):c.94046G>A (p.Arg31349His)
|
rs181104321
|
0.00282
|
NM_176787.5(PIGN):c.1617T>C (p.Tyr539=)
|
rs147306123
|
0.00282
|
NM_014363.6(SACS):c.9846A>G (p.Pro3282=)
|
rs61753111
|
0.00281
|
NM_198576.4(AGRN):c.1434G>A (p.Thr478=)
|
rs147346337
|
0.00281
|
NM_000217.3(KCNA1):c.237G>A (p.Glu79=)
|
rs149110871
|
0.00280
|
NM_133433.4(NIPBL):c.3897T>C (p.Leu1299=)
|
rs80358354
|
0.00280
|
NM_001384140.1(PCDH15):c.4860G>A (p.Thr1620=)
|
rs148772706
|
0.00278
|
NM_018136.5(ASPM):c.9444+8T>G
|
rs140150599
|
0.00278
|
NM_182961.4(SYNE1):c.4162C>T (p.Arg1388Trp)
|
rs34028822
|
0.00278
|
NM_001278064.2(GRM1):c.922G>A (p.Val308Ile)
|
rs112915383
|
0.00277
|
NM_001958.5(EEF1A2):c.1266C>A (p.Gly422=)
|
rs202102758
|
0.00277
|
NM_003793.4(CTSF):c.676C>T (p.Arg226Cys)
|
rs143313688
|
0.00277
|
NM_006946.4(SPTBN2):c.5950-8G>A
|
rs201759431
|
0.00277
|
NM_014795.4(ZEB2):c.489C>T (p.Ile163=)
|
rs138859323
|
0.00277
|
NM_182961.4(SYNE1):c.5101G>T (p.Ala1701Ser)
|
rs149758808
|
0.00275
|
NM_001267550.2(TTN):c.103147G>C (p.Glu34383Gln)
|
rs148525155
|
0.00274
|
NM_182961.4(SYNE1):c.13863G>A (p.Thr4621=)
|
rs112266645
|
0.00274
|
NM_001009944.3(PKD1):c.4495C>T (p.Leu1499=)
|
rs142002333
|
0.00272
|
NM_004924.6(ACTN4):c.536C>T (p.Pro179Leu)
|
rs149027682
|
0.00270
|
NM_007126.5(VCP):c.927C>T (p.Ile309=)
|
rs34097935
|
0.00270
|
NM_025137.4(SPG11):c.6224A>G (p.Asn2075Ser)
|
rs140824939
|
0.00270
|
NM_020919.4(ALS2):c.4119A>G (p.Ile1373Met)
|
rs61757691
|
0.00269
|
NM_000257.4(MYH7):c.4239G>A (p.Ser1413=)
|
rs3729821
|
0.00267
|
NM_030962.4(SBF2):c.2323G>A (p.Gly775Ser)
|
rs141330687
|
0.00267
|
NM_005529.7(HSPG2):c.7086C>T (p.Cys2362=)
|
rs139001173
|
0.00265
|
NM_014254.3(RXYLT1):c.825G>A (p.Thr275=)
|
rs115076664
|
0.00264
|
NM_016239.4(MYO15A):c.10242C>T (p.Phe3414=)
|
rs188485743
|
0.00264
|
NM_000744.7(CHRNA4):c.1401C>T (p.Ser467=)
|
rs45569837
|
0.00262
|
NM_001127222.2(CACNA1A):c.2678G>A (p.Arg893Gln)
|
rs374664760
|
0.00262
|
NM_001267550.2(TTN):c.18776C>G (p.Thr6259Ser)
|
rs72648949
|
0.00262
|
NM_005477.3(HCN4):c.2275G>A (p.Val759Ile)
|
rs62641689
|
0.00258
|
NM_012463.4(ATP6V0A2):c.1258G>T (p.Val420Leu)
|
rs138716143
|
0.00258
|
NM_015346.4(ZFYVE26):c.3722G>A (p.Arg1241Gln)
|
rs140756827
|
0.00258
|
NM_000092.5(COL4A4):c.4731G>A (p.Ala1577=)
|
rs200639109
|
0.00257
|
NM_000391.4(TPP1):c.840G>C (p.Leu280=)
|
rs140349036
|
0.00257
|
NM_000744.7(CHRNA4):c.9A>G (p.Leu3=)
|
rs80075498
|
0.00257
|
NM_001130987.2(DYSF):c.5743G>A (p.Asp1915Asn)
|
rs115013641
|
0.00257
|
NM_001110792.2(MECP2):c.1371G>A (p.Thr457=)
|
rs3027927
|
0.00256
|
NM_004320.6(ATP2A1):c.1167C>T (p.Tyr389=)
|
rs41292388
|
0.00255
|
NM_014363.6(SACS):c.2721G>A (p.Leu907=)
|
rs140118958
|
0.00255
|
NM_005529.7(HSPG2):c.12982G>A (p.Ala4328Thr)
|
rs114015043
|
0.00254
|
NM_001267550.2(TTN):c.98294C>G (p.Ala32765Gly)
|
rs72648273
|
0.00253
|
NM_001244008.2(KIF1A):c.4917G>A (p.Leu1639=)
|
rs187810230
|
0.00252
|
NM_001267550.2(TTN):c.97490T>C (p.Ile32497Thr)
|
rs55660660
|
0.00251
|
NM_014053.4(FLVCR1):c.937G>A (p.Asp313Asn)
|
rs139175550
|
0.00251
|
NM_015346.4(ZFYVE26):c.1184G>T (p.Gly395Val)
|
rs35512910
|
0.00250
|
NM_017739.4(POMGNT1):c.301G>A (p.Val101Ile)
|
rs150576537
|
0.00250
|
NM_020247.5(COQ8A):c.384C>T (p.Ala128=)
|
rs139970507
|
0.00250
|
NM_000162.5(GCK):c.209-8G>A
|
rs144798843
|
0.00249
|
NM_001378452.1(ITPR1):c.3894C>T (p.Asn1298=)
|
rs182840163
|
0.00248
|
NM_006009.4(TUBA1A):c.966C>T (p.Asp322=)
|
rs142641191
|
0.00248
|
NM_032806.6(POMGNT2):c.450A>G (p.Pro150=)
|
rs142190930
|
0.00248
|
NM_000257.4(MYH7):c.3853+7C>T
|
rs45467397
|
0.00247
|
NM_001267550.2(TTN):c.41103C>T (p.Gly13701=)
|
rs72650077
|
0.00247
|
NM_015346.4(ZFYVE26):c.4854C>T (p.Leu1618=)
|
rs151287975
|
0.00246
|
NM_144991.3(TSPEAR):c.1915G>A (p.Asp639Asn)
|
rs138480801
|
0.00244
|
NM_001267550.2(TTN):c.61922G>A (p.Arg20641Gln)
|
rs199895260
|
0.00243
|
NM_005529.7(HSPG2):c.10677C>T (p.Asn3559=)
|
rs138049720
|
0.00243
|
NM_001164508.2(NEB):c.4980C>T (p.Pro1660=)
|
rs142074817
|
0.00242
|
NM_002292.4(LAMB2):c.109C>G (p.Pro37Ala)
|
rs144765752
|
0.00242
|
NM_005619.5(RTN2):c.1168G>A (p.Gly390Ser)
|
rs143937661
|
0.00242
|
NM_000751.3(CHRND):c.862C>G (p.Gln288Glu)
|
rs41265127
|
0.00239
|
NM_006946.4(SPTBN2):c.1068G>A (p.Pro356=)
|
rs150080880
|
0.00239
|
NM_000426.4(LAMA2):c.6429+8C>A
|
rs199773264
|
0.00238
|
NM_001042492.3(NF1):c.4269A>G (p.Glu1423=)
|
rs17886566
|
0.00238
|
NM_001267550.2(TTN):c.103363C>T (p.Arg34455Cys)
|
rs72629785
|
0.00238
|
NM_003482.4(KMT2D):c.6573G>A (p.Thr2191=)
|
rs202085637
|
0.00238
|
NM_001009944.3(PKD1):c.9795C>T (p.Ser3265=)
|
rs150949575
|
0.00237
|
NM_001164508.2(NEB):c.4272G>C (p.Thr1424=)
|
rs35654397
|
0.00236
|
NM_000702.4(ATP1A2):c.2967C>T (p.Phe989=)
|
rs138826759
|
0.00235
|
NM_001267550.2(TTN):c.101064T>C (p.Asp33688=)
|
rs368168812
|
0.00235
|
NM_001267550.2(TTN):c.106857C>T (p.Asn35619=)
|
rs116604145
|
0.00235
|
NM_001267550.2(TTN):c.96108G>A (p.Val32036=)
|
rs372773283
|
0.00234
|
NM_206933.4(USH2A):c.4560C>T (p.Ile1520=)
|
rs148000219
|
0.00234
|
NM_001267550.2(TTN):c.19150C>A (p.Pro6384Thr)
|
rs72648953
|
0.00233
|
NM_020822.3(KCNT1):c.2543A>G (p.Glu848Gly)
|
rs149804567
|
0.00233
|
NM_001037.5(SCN1B):c.267C>T (p.Arg89=)
|
rs140949982
|
0.00232
|
NM_004924.6(ACTN4):c.1608C>T (p.Arg536=)
|
rs139575917
|
0.00232
|
NM_000083.3(CLCN1):c.86A>C (p.His29Pro)
|
rs146160029
|
0.00231
|
NM_001853.4(COL9A3):c.755G>A (p.Arg252Gln)
|
rs139573483
|
0.00231
|
NM_032119.4(ADGRV1):c.9213C>T (p.Asp3071=)
|
rs56329646
|
0.00231
|
NM_006420.3(ARFGEF2):c.807C>T (p.Asp269=)
|
rs149172723
|
0.00230
|
NM_001267550.2(TTN):c.47191C>T (p.Arg15731Cys)
|
rs72677231
|
0.00229
|
NM_003900.5(SQSTM1):c.712A>G (p.Lys238Glu)
|
rs11548633
|
0.00229
|
NM_020247.5(COQ8A):c.948C>T (p.Leu316=)
|
rs55637780
|
0.00229
|
NM_001267550.2(TTN):c.70815G>A (p.Val23605=)
|
rs55847238
|
0.00228
|
NM_198859.4(PRICKLE2):c.1527G>A (p.Glu509=)
|
rs144455095
|
0.00228
|
NM_000540.3(RYR1):c.216G>T (p.Leu72=)
|
rs113389877
|
0.00227
|
NM_001009944.3(PKD1):c.3316C>G (p.Leu1106Val)
|
rs141625744
|
0.00226
|
NM_201384.3(PLEC):c.12642C>T (p.Ile4214=)
|
rs111227648
|
0.00226
|
NM_198576.4(AGRN):c.4131C>T (p.Phe1377=)
|
rs368555478
|
0.00225
|
NM_001101362.3(KBTBD13):c.1077A>G (p.Gly359=)
|
rs199526404
|
0.00224
|
NM_001267550.2(TTN):c.36509A>T (p.Glu12170Val)
|
rs200840285
|
0.00224
|
NM_133642.5(LARGE1):c.1788G>A (p.Ala596=)
|
rs74550830
|
0.00224
|
NM_001267550.2(TTN):c.14870C>G (p.Thr4957Ser)
|
rs72648925
|
0.00223
|
NM_003482.4(KMT2D):c.8774C>T (p.Ala2925Val)
|
rs199547661
|
0.00223
|
NM_005670.4(EPM2A):c.393G>A (p.Glu131=)
|
rs61758155
|
0.00223
|
NM_006005.3(WFS1):c.2124C>T (p.Arg708=)
|
rs61735401
|
0.00223
|
NM_006158.5(NEFL):c.855C>T (p.Thr285=)
|
rs1065083
|
0.00221
|
NM_020247.5(COQ8A):c.618G>A (p.Val206=)
|
rs115855910
|
0.00220
|
NM_030665.4(RAI1):c.725C>T (p.Pro242Leu)
|
rs150563155
|
0.00220
|
NM_001384474.1(LOXHD1):c.5689C>T (p.Leu1897=)
|
rs202043044
|
0.00218
|
NM_201384.3(PLEC):c.6069C>G (p.Arg2023=)
|
rs376365984
|
0.00218
|
NM_001113491.2(SEPTIN9):c.201C>T (p.Gly67=)
|
rs61744333
|
0.00217
|
NM_018136.5(ASPM):c.1717C>T (p.Arg573Trp)
|
rs144049904
|
0.00217
|
NM_001378452.1(ITPR1):c.5265C>T (p.Asn1755=)
|
rs61757111
|
0.00215
|
NM_001378454.1(ALMS1):c.8445A>G (p.Ser2815=)
|
rs137932254
|
0.00215
|
NM_001843.4(CNTN1):c.1401T>C (p.Gly467=)
|
rs61759480
|
0.00215
|
NM_020822.3(KCNT1):c.2235C>T (p.Ser745=)
|
rs146810749
|
0.00215
|
NM_001244008.2(KIF1A):c.3345C>G (p.Ala1115=)
|
rs370286749
|
0.00214
|
NM_001377265.1(MAPT):c.2091+29G>A
|
rs63751443
|
0.00213
|
NM_001378452.1(ITPR1):c.5621T>G (p.Val1874Gly)
|
rs143093165
|
0.00213
|
NM_001267550.2(TTN):c.1068G>A (p.Glu356=)
|
rs144716589
|
0.00212
|
NM_001244008.2(KIF1A):c.3888C>T (p.Arg1296=)
|
rs144520412
|
0.00211
|
NM_000091.5(COL4A3):c.4665G>A (p.Ala1555=)
|
rs200858199
|
0.00210
|
NM_170707.4(LMNA):c.1761G>A (p.Leu587=)
|
rs80356813
|
0.00210
|
NM_000170.3(GLDC):c.1156-7C>G
|
rs150095531
|
0.00208
|
NM_005866.4(SIGMAR1):c.6G>A (p.Gln2=)
|
rs541251697
|
0.00208
|
NM_002775.5(HTRA1):c.879C>T (p.Thr293=)
|
rs149294320
|
0.00207
|
NM_000426.4(LAMA2):c.411G>A (p.Ala137=)
|
rs149347601
|
0.00206
|
NM_000834.5(GRIN2B):c.3552C>T (p.Gly1184=)
|
rs141886903
|
0.00206
|
NM_001267550.2(TTN):c.31399G>A (p.Val10467Ile)
|
rs72650019
|
0.00206
|
NM_004526.4(MCM2):c.759G>A (p.Ala253=)
|
rs35749886
|
0.00206
|
NM_014795.4(ZEB2):c.1480C>T (p.Pro494Ser)
|
rs144952836
|
0.00206
|
NM_152743.4(BRAT1):c.1659C>T (p.Leu553=)
|
rs61746940
|
0.00205
|
NM_002968.3(SALL1):c.379G>C (p.Val127Leu)
|
rs138635817
|
0.00203
|
NM_015340.4(LARS2):c.1692C>T (p.Ala564=)
|
rs149911756
|
0.00203
|
NM_016373.4(WWOX):c.1197G>A (p.Ala399=)
|
rs376935572
|
0.00203
|
NM_001267550.2(TTN):c.47248G>A (p.Val15750Ile)
|
rs72677232
|
0.00202
|
NM_001354604.2(MITF):c.366C>T (p.His122=)
|
rs140663277
|
0.00201
|
NM_001378452.1(ITPR1):c.930G>A (p.Thr310=)
|
rs28565126
|
0.00201
|
NM_014855.3(AP5Z1):c.481G>A (p.Val161Met)
|
rs191971593
|
0.00201
|
NM_015295.3(SMCHD1):c.1956+7C>T
|
rs145755468
|
0.00201
|
NM_000051.4(ATM):c.162T>C (p.Tyr54=)
|
rs3218690
|
0.00200
|
NM_001242896.3(DEPDC5):c.3683T>C (p.Ile1228Thr)
|
rs200653339
|
0.00200
|
NM_000722.4(CACNA2D1):c.1983G>A (p.Ser661=)
|
rs75158917
|
0.00199
|
NM_033305.3(VPS13A):c.1758T>C (p.Ala586=)
|
rs149037185
|
0.00199
|
NM_001009944.3(PKD1):c.10406-4C>T
|
rs151095649
|
0.00198
|
NM_001145026.2(PTPRQ):c.1710C>T (p.Ser570=)
|
rs140978858
|
0.00198
|
NM_002529.4(NTRK1):c.1908G>A (p.Ala636=)
|
rs17838192
|
0.00198
|
NM_152743.4(BRAT1):c.1862G>A (p.Arg621Gln)
|
rs138077616
|
0.00198
|
NM_014363.6(SACS):c.4076T>C (p.Met1359Thr)
|
rs146451611
|
0.00197
|
NM_021072.4(HCN1):c.1783+4C>T
|
rs188586020
|
0.00196
|
NM_001267550.2(TTN):c.67099T>C (p.Ser22367Pro)
|
rs72646873
|
0.00195
|
NM_005529.7(HSPG2):c.4627-3del
|
rs368983547
|
0.00195
|
NM_002693.3(POLG):c.1174C>G (p.Leu392Val)
|
rs145289229
|
0.00194
|
NM_001048166.1(STIL):c.1455G>C (p.Leu485Phe)
|
rs139912214
|
0.00193
|
NM_014363.6(SACS):c.7737G>A (p.Lys2579=)
|
rs139279302
|
0.00192
|
NM_004115.4(FGF14):c.124G>T (p.Gly42Cys)
|
rs141304687
|
0.00191
|
NM_021072.4(HCN1):c.2172C>T (p.Ala724=)
|
rs56217199
|
0.00191
|
NM_181882.3(PRX):c.3373G>A (p.Gly1125Ser)
|
rs148939995
|
0.00191
|
NM_194248.3(OTOF):c.5742G>A (p.Leu1914=)
|
rs141235641
|
0.00191
|
NM_004733.4(SLC33A1):c.136G>A (p.Glu46Lys)
|
rs149571533
|
0.00190
|
NM_016239.4(MYO15A):c.8811C>T (p.His2937=)
|
rs200583193
|
0.00190
|
NM_001127222.2(CACNA1A):c.4632C>T (p.Thr1544=)
|
rs150378053
|
0.00188
|
NM_001371623.1(TCOF1):c.1028G>A (p.Ser343Asn)
|
rs144327167
|
0.00188
|
NM_005529.7(HSPG2):c.1238G>A (p.Arg413Gln)
|
rs140621959
|
0.00188
|
NM_000051.4(ATM):c.1229T>C (p.Val410Ala)
|
rs56128736
|
0.00186
|
NM_133433.4(NIPBL):c.7830G>C (p.Val2610=)
|
rs115668015
|
0.00186
|
NM_005045.4(RELN):c.1377G>A (p.Arg459=)
|
rs73712207
|
0.00185
|
NM_014874.4(MFN2):c.663T>C (p.Asp221=)
|
rs116504054
|
0.00184
|
NM_020919.4(ALS2):c.3309T>C (p.His1103=)
|
rs201920363
|
0.00184
|
NM_021625.5(TRPV4):c.2498A>G (p.Asn833Ser)
|
rs116035946
|
0.00184
|
NM_203446.3(SYNJ1):c.3369A>G (p.Pro1123=)
|
rs368850131
|
0.00183
|
NM_173660.5(DOK7):c.1278C>T (p.Pro426=)
|
rs139468087
|
0.00181
|
NM_198586.3(NHLRC1):c.32C>A (p.Ala11Glu)
|
rs139029314
|
0.00181
|
NM_001130438.3(SPTAN1):c.3720-5T>G
|
rs200543425
|
0.00180
|
NM_001365536.1(SCN9A):c.1997A>G (p.Lys666Arg)
|
rs121908919
|
0.00180
|
NM_130837.3(OPA1):c.1236A>G (p.Ala412=)
|
rs150807064
|
0.00179
|
NM_001083962.2(TCF4):c.1419G>C (p.Pro473=)
|
rs143944746
|
0.00178
|
NM_182961.4(SYNE1):c.5999G>A (p.Arg2000Lys)
|
rs149146258
|
0.00178
|
NM_000089.4(COL1A2):c.808G>A (p.Val270Ile)
|
rs368468
|
0.00177
|
NM_000371.4(TTR):c.416C>T (p.Thr139Met)
|
rs28933981
|
0.00177
|
NM_006516.4(SLC2A1):c.27G>A (p.Thr9=)
|
rs34025424
|
0.00176
|
NM_001146262.4(SYT14):c.408T>C (p.Tyr136=)
|
rs71515148
|
0.00175
|
NM_001267550.2(TTN):c.103974C>T (p.Ile34658=)
|
rs199714102
|
0.00175
|
NM_198994.3(TGM6):c.502G>A (p.Val168Met)
|
rs147494925
|
0.00175
|
NM_015443.4(KANSL1):c.727C>A (p.Gln243Lys)
|
rs142096969
|
0.00174
|
NM_133642.5(LARGE1):c.1644C>T (p.Asn548=)
|
rs113253213
|
0.00174
|
NM_201384.3(PLEC):c.3171G>A (p.Ser1057=)
|
rs371271326
|
0.00174
|
NM_001365999.1(SZT2):c.7245C>T (p.Ser2415=)
|
rs142822908
|
0.00173
|
NM_001458.5(FLNC):c.7091G>A (p.Arg2364His)
|
rs201672146
|
0.00173
|
NM_006946.4(SPTBN2):c.2526C>T (p.Gly842=)
|
rs144939155
|
0.00173
|
NM_173500.4(TTBK2):c.1059C>T (p.Ser353=)
|
rs200405805
|
0.00172
|
NM_018723.4(RBFOX1):c.282C>T (p.Asp94=)
|
rs145861898
|
0.00171
|
NM_021098.3(CACNA1H):c.6195C>T (p.Ala2065=)
|
rs375589233
|
0.00171
|
NM_182961.4(SYNE1):c.20292T>C (p.Asp6764=)
|
rs73619386
|
0.00171
|
NM_000391.4(TPP1):c.1497T>C (p.Pro499=)
|
rs142672910
|
0.00170
|
NM_014363.6(SACS):c.2988A>G (p.Leu996=)
|
rs111846884
|
0.00170
|
NM_182961.4(SYNE1):c.9148C>G (p.Leu3050Val)
|
rs117360770
|
0.00170
|
NM_001005361.3(DNM2):c.643G>A (p.Asp215Asn)
|
rs145478270
|
0.00168
|
NM_001130987.2(DYSF):c.5058C>A (p.Leu1686=)
|
rs141476432
|
0.00168
|
NM_001384474.1(LOXHD1):c.5313C>T (p.Gly1771=)
|
rs373924055
|
0.00168
|
NM_001458.5(FLNC):c.2390-9T>C
|
rs368068407
|
0.00168
|
NM_004817.4(TJP2):c.185C>T (p.Thr62Met)
|
rs138241615
|
0.00168
|
NM_006946.4(SPTBN2):c.3429A>G (p.Leu1143=)
|
rs35370566
|
0.00168
|
NM_000051.4(ATM):c.609C>T (p.Asp203=)
|
rs144709948
|
0.00166
|
NM_024577.4(SH3TC2):c.3813C>T (p.Ser1271=)
|
rs140985600
|
0.00166
|
NM_182961.4(SYNE1):c.7976C>A (p.Thr2659Asn)
|
rs117480635
|
0.00166
|
NM_001164508.2(NEB):c.21720C>T (p.Tyr7240=)
|
rs34718443
|
0.00165
|
NM_015087.5(SPART):c.1155T>G (p.Arg385=)
|
rs140222511
|
0.00165
|
NM_020919.4(ALS2):c.1816-8C>T
|
rs185911369
|
0.00165
|
NM_201384.3(PLEC):c.2551G>A (p.Val851Met)
|
rs200647397
|
0.00164
|
NM_000388.4(CASR):c.748G>A (p.Glu250Lys)
|
rs62269092
|
0.00163
|
NM_005477.3(HCN4):c.1518C>T (p.Tyr506=)
|
rs139590882
|
0.00163
|
NM_018429.3(BDP1):c.4578A>G (p.Ser1526=)
|
rs199669834
|
0.00163
|
NM_020822.3(KCNT1):c.2729G>A (p.Arg910Gln)
|
rs151272083
|
0.00162
|
NM_001009944.3(PKD1):c.4917C>T (p.Gly1639=)
|
rs148852027
|
0.00161
|
NM_021625.5(TRPV4):c.57C>T (p.Pro19=)
|
rs112408790
|
0.00161
|
NM_001293298.2(CEMIP):c.3625C>T (p.His1209Tyr)
|
rs140790232
|
0.00160
|
NM_001458.5(FLNC):c.5644A>G (p.Ile1882Val)
|
rs184018403
|
0.00160
|
NM_003042.4(SLC6A1):c.912C>T (p.Ile304=)
|
rs35450949
|
0.00159
|
NM_003482.4(KMT2D):c.10993C>G (p.Pro3665Ala)
|
rs112170602
|
0.00159
|
NM_152743.4(BRAT1):c.2208G>T (p.Leu736=)
|
rs61753093
|
0.00159
|
NM_000435.3(NOTCH3):c.3314G>C (p.Gly1105Ala)
|
rs143764521
|
0.00158
|
NM_013382.7(POMT2):c.1881G>A (p.Ala627=)
|
rs146588608
|
0.00158
|
NM_022489.4(INF2):c.558C>T (p.Ser186=)
|
rs150714865
|
0.00158
|
NM_015340.4(LARS2):c.255C>T (p.Tyr85=)
|
rs114881088
|
0.00157
|
NM_015443.4(KANSL1):c.1826G>A (p.Ser609Asn)
|
rs138698439
|
0.00157
|
NM_000548.5(TSC2):c.5383C>T (p.Arg1795Cys)
|
rs45517423
|
0.00156
|
NM_015443.4(KANSL1):c.607G>C (p.Gly203Arg)
|
rs138175526
|
0.00156
|
NM_013275.6(ANKRD11):c.6725C>T (p.Ala2242Val)
|
rs372632879
|
0.00155
|
NM_018136.5(ASPM):c.9254T>C (p.Ile3085Thr)
|
rs138138436
|
0.00155
|
NM_001130438.3(SPTAN1):c.6111C>T (p.Gly2037=)
|
rs139799727
|
0.00154
|
NM_013275.6(ANKRD11):c.6746G>A (p.Arg2249His)
|
rs201043388
|
0.00154
|
NM_182961.4(SYNE1):c.25617G>A (p.Glu8539=)
|
rs118187988
|
0.00154
|
NM_000334.4(SCN4A):c.4215C>T (p.Leu1405=)
|
rs141215137
|
0.00153
|
NM_001127222.2(CACNA1A):c.1614C>T (p.Tyr538=)
|
rs182505786
|
0.00153
|
NM_001267550.2(TTN):c.30718G>T (p.Val10240Phe)
|
rs111671438
|
0.00153
|
NM_001540.5(HSPB1):c.178C>T (p.Pro60Ser)
|
rs61751217
|
0.00153
|
NM_014874.4(MFN2):c.1179G>A (p.Met393Ile)
|
rs12069578
|
0.00153
|
NM_020247.5(COQ8A):c.298G>T (p.Asp100Tyr)
|
rs150696959
|
0.00153
|
NM_201384.3(PLEC):c.9351C>T (p.Phe3117=)
|
rs200895343
|
0.00153
|
NM_005591.4(MRE11):c.822T>C (p.Leu274=)
|
rs137868143
|
0.00152
|
NM_001101426.4(CRPPA):c.1059G>A (p.Lys353=)
|
rs181099904
|
0.00151
|
NM_001161352.2(KCNMA1):c.1320C>T (p.Ile440=)
|
rs45617636
|
0.00151
|
NM_012463.4(ATP6V0A2):c.2238C>T (p.Cys746=)
|
rs138886791
|
0.00150
|
NM_201384.3(PLEC):c.3543C>T (p.Val1181=)
|
rs202185399
|
0.00150
|
NM_001005361.3(DNM2):c.1902C>T (p.Asn634=)
|
rs2229919
|
0.00149
|
NM_198994.3(TGM6):c.1523G>A (p.Gly508Asp)
|
rs140719871
|
0.00149
|
NM_001378452.1(ITPR1):c.2007-3T>C
|
rs200335594
|
0.00148
|
NM_013382.7(POMT2):c.1683T>C (p.Asn561=)
|
rs146307965
|
0.00148
|
NM_001267550.2(TTN):c.11254+2T>C
|
rs199565715
|
0.00147
|
NM_015346.4(ZFYVE26):c.677G>A (p.Arg226His)
|
rs147919567
|
0.00147
|
NM_182961.4(SYNE1):c.1141G>A (p.Asp381Asn)
|
rs146366996
|
0.00147
|
NM_001267550.2(TTN):c.73336C>T (p.Leu24446=)
|
rs189768015
|
0.00146
|
NM_016239.4(MYO15A):c.4719G>A (p.Ala1573=)
|
rs186426892
|
0.00146
|
NM_201384.3(PLEC):c.8509G>A (p.Glu2837Lys)
|
rs199661077
|
0.00146
|
NM_001267550.2(TTN):c.10104T>G (p.Val3368=)
|
rs142460433
|
0.00145
|
NM_025137.4(SPG11):c.16G>A (p.Gly6Arg)
|
rs200573434
|
0.00145
|
NM_001009944.3(PKD1):c.2235C>G (p.Ala745=)
|
rs533569454
|
0.00144
|
NM_001040142.2(SCN2A):c.5229A>G (p.Lys1743=)
|
rs2227898
|
0.00144
|
NM_152564.5(VPS13B):c.2760A>G (p.Leu920=)
|
rs138661755
|
0.00144
|
NM_001378452.1(ITPR1):c.3207C>T (p.Thr1069=)
|
rs186541002
|
0.00143
|
NM_012301.4(MAGI2):c.219C>T (p.Pro73=)
|
rs148240352
|
0.00143
|
NM_001267550.2(TTN):c.82489G>A (p.Gly27497Arg)
|
rs201158906
|
0.00141
|
NM_015046.7(SETX):c.7101A>G (p.Gly2367=)
|
rs79233884
|
0.00141
|
NM_001164508.2(NEB):c.19626T>C (p.Asp6542=)
|
rs190336010
|
0.00140
|
NM_005045.4(RELN):c.3477C>A (p.Asn1159Lys)
|
rs114684479
|
0.00140
|
NM_152296.5(ATP1A3):c.816G>A (p.Thr272=)
|
rs149898088
|
0.00140
|
NM_182961.4(SYNE1):c.23259C>T (p.Arg7753=)
|
rs139590550
|
0.00140
|
NM_000051.4(ATM):c.1066-6T>G
|
rs201686625
|
0.00139
|
NM_004646.4(NPHS1):c.1638T>G (p.Thr546=)
|
rs115444936
|
0.00138
|
NM_000088.4(COL1A1):c.2236-17C>G
|
rs193922146
|
0.00137
|
NM_001376.5(DYNC1H1):c.5001C>T (p.Asn1667=)
|
rs117199211
|
0.00137
|
NM_018136.5(ASPM):c.646G>A (p.Glu216Lys)
|
rs151050191
|
0.00137
|
NM_181882.3(PRX):c.1574T>C (p.Val525Ala)
|
rs149715830
|
0.00136
|
NM_032119.4(ADGRV1):c.3255T>C (p.Asp1085=)
|
rs183447491
|
0.00135
|
NM_198994.3(TGM6):c.1216G>A (p.Glu406Lys)
|
rs144338465
|
0.00135
|
NM_001267550.2(TTN):c.8938G>A (p.Ala2980Thr)
|
rs72647885
|
0.00134
|
NM_014363.6(SACS):c.2983G>T (p.Val995Phe)
|
rs142967124
|
0.00134
|
NM_000334.4(SCN4A):c.2854-5C>T
|
rs374039266
|
0.00133
|
NM_000748.3(CHRNB2):c.1235G>A (p.Gly412Asp)
|
rs112585933
|
0.00133
|
NM_001267550.2(TTN):c.16621+7A>T
|
rs10200398
|
0.00133
|
NM_006790.3(MYOT):c.981T>C (p.Asn327=)
|
rs148479015
|
0.00133
|
NM_182961.4(SYNE1):c.9489A>G (p.Gln3163=)
|
rs35379711
|
0.00133
|
NM_001330260.2(SCN8A):c.3822C>T (p.Val1274=)
|
rs187327463
|
0.00132
|
NM_005445.4(SMC3):c.2329T>C (p.Leu777=)
|
rs76625999
|
0.00132
|
NM_001127222.2(CACNA1A):c.1623G>A (p.Gly541=)
|
rs375628894
|
0.00131
|
NM_001130438.3(SPTAN1):c.5775C>T (p.Thr1925=)
|
rs140353002
|
0.00130
|
NM_002055.5(GFAP):c.675C>T (p.Asp225=)
|
rs146443487
|
0.00130
|
NM_001267550.2(TTN):c.1002C>T (p.Thr334=)
|
rs148094198
|
0.00128
|
NM_000540.3(RYR1):c.7923C>G (p.Leu2641=)
|
rs142558977
|
0.00126
|
NM_003900.5(SQSTM1):c.350C>T (p.Ala117Val)
|
rs147810437
|
0.00126
|
NM_000051.4(ATM):c.4473C>T (p.Phe1491=)
|
rs4988008
|
0.00125
|
NM_001009944.3(PKD1):c.12816C>T (p.Ser4272=)
|
rs199569478
|
0.00125
|
NM_001304438.2(TMEM132E):c.915C>T (p.Pro305=)
|
rs140315218
|
0.00124
|
NM_001458.5(FLNC):c.597C>T (p.Ala199=)
|
rs143942649
|
0.00124
|
NM_001845.6(COL4A1):c.3877-8G>A
|
rs370539477
|
0.00124
|
NM_004006.3(DMD):c.5265C>T (p.Pro1755=)
|
rs145515413
|
0.00124
|
NM_005445.4(SMC3):c.1671-6A>G
|
rs200848781
|
0.00124
|
NM_153700.2(STRC):c.5200T>C (p.Trp1734Arg)
|
rs200770543
|
0.00124
|
NM_001378120.1(MBD5):c.3978C>T (p.Val1326=)
|
rs35692977
|
0.00123
|
NM_006996.3(SLC19A2):c.639G>A (p.Lys213=)
|
rs137970656
|
0.00123
|
NM_170707.4(LMNA):c.1566C>T (p.Cys522=)
|
rs149339264
|
0.00123
|
NM_000744.7(CHRNA4):c.978C>T (p.Phe326=)
|
rs76270730
|
0.00122
|
NM_001271.4(CHD2):c.5049C>T (p.Ala1683=)
|
rs139534358
|
0.00121
|
NM_018105.3(THAP1):c.71+9C>A
|
rs200209986
|
0.00121
|
NM_001009944.3(PKD1):c.1281G>A (p.Ala427=)
|
rs141553109
|
0.00120
|
NM_002047.4(GARS1):c.1962C>T (p.Ile654=)
|
rs201927627
|
0.00120
|
NM_001267550.2(TTN):c.26439C>T (p.Asn8813=)
|
rs200088963
|
0.00119
|
NM_001378452.1(ITPR1):c.4843-8C>T
|
rs41304179
|
0.00119
|
NM_001110556.2(FLNA):c.1029C>T (p.Ser343=)
|
rs199853721
|
0.00118
|
NM_001278064.2(GRM1):c.2991A>G (p.Ala997=)
|
rs140244084
|
0.00118
|
NM_005529.7(HSPG2):c.5160C>T (p.Ser1720=)
|
rs138980184
|
0.00118
|
NM_201384.3(PLEC):c.3885G>A (p.Pro1295=)
|
rs148465219
|
0.00118
|
NM_001037.5(SCN1B):c.588T>C (p.Asn196=)
|
rs77244433
|
0.00117
|
NM_001267550.2(TTN):c.94846C>T (p.Leu31616=)
|
rs72648255
|
0.00117
|
NM_032737.4(LMNB2):c.255C>G (p.Thr85=)
|
rs201524951
|
0.00117
|
NM_130839.5(UBE3A):c.1269C>T (p.Asp423=)
|
rs149506027
|
0.00117
|
NM_182961.4(SYNE1):c.8973G>A (p.Thr2991=)
|
rs146424389
|
0.00116
|
NM_000430.4(PAFAH1B1):c.780A>G (p.Val260=)
|
rs150380620
|
0.00115
|
NM_001267550.2(TTN):c.52852C>T (p.Arg17618Cys)
|
rs201213901
|
0.00115
|
NM_000069.3(CACNA1S):c.3795+3G>A
|
rs191758096
|
0.00113
|
NM_001130438.3(SPTAN1):c.1737C>T (p.Phe579=)
|
rs143941068
|
0.00113
|
NM_015087.5(SPART):c.75A>G (p.Leu25=)
|
rs148399669
|
0.00113
|
NM_001849.4(COL6A2):c.2599C>T (p.Arg867Trp)
|
rs144484744
|
0.00112
|
NM_002087.4(GRN):c.970G>A (p.Ala324Thr)
|
rs63750541
|
0.00112
|
NM_020919.4(ALS2):c.3741T>G (p.Gly1247=)
|
rs3219166
|
0.00112
|
NM_153700.2(STRC):c.4917A>C (p.Leu1639=)
|
rs2860666
|
0.00112
|
NM_000304.4(PMP22):c.178+7C>A
|
rs147885521
|
0.00111
|
NM_013275.6(ANKRD11):c.6730G>A (p.Val2244Ile)
|
rs200852197
|
0.00111
|
NM_000170.3(GLDC):c.498T>C (p.Pro166=)
|
rs150193069
|
0.00110
|
NM_145207.3(AFG2A):c.1131G>A (p.Glu377=)
|
rs139089747
|
0.00110
|
NM_145239.3(PRRT2):c.67G>A (p.Glu23Lys)
|
rs140383655
|
0.00110
|
NM_000548.5(TSC2):c.4293G>A (p.Ser1431=)
|
rs45487992
|
0.00109
|
NM_001330078.2(NRXN1):c.3045C>T (p.Ala1015=)
|
rs56402642
|
0.00109
|
NM_004977.3(KCNC3):c.1215C>T (p.Ala405=)
|
rs116590290
|
0.00109
|
NM_005591.4(MRE11):c.426C>T (p.Asp142=)
|
rs3218740
|
0.00109
|
NM_000334.4(SCN4A):c.4690G>A (p.Val1564Ile)
|
rs202106192
|
0.00108
|
NM_001008212.2(OPTN):c.489A>G (p.Glu163=)
|
rs113811959
|
0.00108
|
NM_001127222.2(CACNA1A):c.1914-4G>A
|
rs191026552
|
0.00108
|
NM_001164508.2(NEB):c.23267T>C (p.Met7756Thr)
|
rs201767727
|
0.00108
|
NM_001267550.2(TTN):c.13287T>C (p.Ala4429=)
|
rs370604524
|
0.00108
|
NM_001267550.2(TTN):c.16422A>G (p.Gln5474=)
|
rs371026448
|
0.00108
|
NM_001961.4(EEF2):c.1677G>A (p.Lys559=)
|
rs146823249
|
0.00108
|
NM_002335.4(LRP5):c.2193C>T (p.Asn731=)
|
rs147388442
|
0.00108
|
NM_001378452.1(ITPR1):c.4254G>T (p.Val1418=)
|
rs142527379
|
0.00107
|
NM_001614.5(ACTG1):c.72C>T (p.Asp24=)
|
rs139517777
|
0.00107
|
NM_000478.6(ALPL):c.818C>T (p.Thr273Met)
|
rs148405563
|
0.00106
|
NM_001134407.3(GRIN2A):c.1354G>A (p.Val452Met)
|
rs145956175
|
0.00105
|
NM_001845.6(COL4A1):c.3506-7C>G
|
rs377592935
|
0.00105
|
NM_005045.4(RELN):c.474-7T>C
|
rs55693709
|
0.00105
|
NM_015046.7(SETX):c.3229G>A (p.Asp1077Asn)
|
rs145097270
|
0.00105
|
NM_201384.3(PLEC):c.2844C>T (p.Pro948=)
|
rs200482255
|
0.00105
|
NM_004977.3(KCNC3):c.315G>C (p.Thr105=)
|
rs368049323
|
0.00104
|
NM_000051.4(ATM):c.4388T>G (p.Phe1463Cys)
|
rs138327406
|
0.00103
|
NM_001371727.1(GABRB2):c.747A>T (p.Thr249=)
|
rs145570974
|
0.00103
|
NM_182961.4(SYNE1):c.13101C>T (p.Ile4367=)
|
rs140136749
|
0.00103
|
NM_006796.3(AFG3L2):c.1319-7C>T
|
rs182327153
|
0.00102
|
NM_006946.4(SPTBN2):c.1972C>T (p.Arg658Trp)
|
rs199968321
|
0.00102
|
NM_001267550.2(TTN):c.26818G>A (p.Gly8940Ser)
|
rs201005813
|
0.00101
|
NM_004839.4(HOMER2):c.234C>T (p.Ala78=)
|
rs200280749
|
0.00101
|
NM_005529.7(HSPG2):c.4488G>A (p.Thr1496=)
|
rs372318754
|
0.00101
|
NM_016341.4(PLCE1):c.513G>A (p.Val171=)
|
rs61749239
|
0.00101
|
NM_020919.4(ALS2):c.1115C>G (p.Pro372Arg)
|
rs190369242
|
0.00100
|
NM_182961.4(SYNE1):c.14263C>T (p.Leu4755Phe)
|
rs41301343
|
0.00100
|
NM_182961.4(SYNE1):c.4031G>A (p.Arg1344Gln)
|
rs144566713
|
0.00100
|
NM_182961.4(SYNE1):c.7156A>G (p.Ile2386Val)
|
rs147947903
|
0.00099
|
NM_001365999.1(SZT2):c.4983T>C (p.Asp1661=)
|
rs139810154
|
0.00098
|
NM_000069.3(CACNA1S):c.1452C>T (p.Tyr484=)
|
rs144206959
|
0.00097
|
NM_001130438.3(SPTAN1):c.1511C>T (p.Ala504Val)
|
rs148727077
|
0.00097
|
NM_001267550.2(TTN):c.107397C>T (p.Ser35799=)
|
rs371480338
|
0.00097
|
NM_018075.5(ANO10):c.963C>T (p.Phe321=)
|
rs149196477
|
0.00097
|
NM_000051.4(ATM):c.2289T>A (p.Phe763Leu)
|
rs34231402
|
0.00096
|
NM_000091.5(COL4A3):c.222G>T (p.Pro74=)
|
rs187950806
|
0.00096
|
NM_001122955.4(BSCL2):c.845C>T (p.Ala282Val)
|
rs185341934
|
0.00096
|
NM_001267550.2(TTN):c.104251G>C (p.Ala34751Pro)
|
rs185683410
|
0.00096
|
NM_130839.5(UBE3A):c.1767C>T (p.Tyr589=)
|
rs139082033
|
0.00096
|
NM_004960.4(FUS):c.1566G>A (p.Arg522=)
|
rs138901914
|
0.00095
|
NM_001267550.2(TTN):c.29079G>A (p.Ala9693=)
|
rs372997298
|
0.00094
|
NM_001267550.2(TTN):c.33053G>A (p.Arg11018Gln)
|
rs72650034
|
0.00093
|
NM_001267550.2(TTN):c.38311A>G (p.Lys12771Glu)
|
rs551811137
|
0.00093
|
NM_004287.5(GOSR2):c.*1823C>T
|
rs142261376
|
0.00093
|
NM_201384.3(PLEC):c.6594C>T (p.Thr2198=)
|
rs144242254
|
0.00093
|
NM_014855.3(AP5Z1):c.558C>T (p.Tyr186=)
|
rs371534878
|
0.00092
|
NM_000297.4(PKD2):c.1830G>A (p.Ala610=)
|
rs144968710
|
0.00091
|
NM_032409.3(PINK1):c.936G>A (p.Arg312=)
|
rs56200357
|
0.00091
|
NM_182961.4(SYNE1):c.6826-6A>G
|
rs183683592
|
0.00091
|
NM_001267550.2(TTN):c.105228G>A (p.Ser35076=)
|
rs55938627
|
0.00090
|
NM_001378452.1(ITPR1):c.3057A>G (p.Ser1019=)
|
rs200705345
|
0.00090
|
NM_006946.4(SPTBN2):c.6797C>T (p.Ala2266Val)
|
rs145891813
|
0.00089
|
NM_020247.5(COQ8A):c.1876C>T (p.Arg626Cys)
|
rs141725964
|
0.00089
|
NM_182961.4(SYNE1):c.11127A>G (p.Glu3709=)
|
rs149260051
|
0.00089
|
NM_182961.4(SYNE1):c.22554G>A (p.Gly7518=)
|
rs148240825
|
0.00089
|
NM_000748.3(CHRNB2):c.1485C>T (p.Asp495=)
|
rs144813907
|
0.00088
|
NM_012463.4(ATP6V0A2):c.2229T>C (p.Cys743=)
|
rs150508296
|
0.00088
|
NM_001267550.2(TTN):c.95205C>T (p.Asp31735=)
|
rs373182578
|
0.00087
|
NM_001376.5(DYNC1H1):c.10065T>C (p.Ser3355=)
|
rs80096622
|
0.00087
|
NM_014363.6(SACS):c.12813T>G (p.Pro4271=)
|
rs146376949
|
0.00087
|
NM_014874.4(MFN2):c.891C>T (p.Ala297=)
|
rs11554508
|
0.00087
|
NM_000548.5(TSC2):c.2784C>T (p.Pro928=)
|
rs45517267
|
0.00086
|
NM_001267550.2(TTN):c.12748G>A (p.Val4250Met)
|
rs201437752
|
0.00086
|
NM_001371623.1(TCOF1):c.3339G>A (p.Gln1113=)
|
rs147074393
|
0.00086
|
NM_014845.6(FIG4):c.1584-8T>A
|
rs199522051
|
0.00086
|
NM_182914.3(SYNE2):c.15248A>G (p.Asp5083Gly)
|
rs149617373
|
0.00086
|
NM_201384.3(PLEC):c.4860C>T (p.Ala1620=)
|
rs144880376
|
0.00085
|
NM_014795.4(ZEB2):c.1161A>G (p.Leu387=)
|
rs146673563
|
0.00084
|
NM_201384.3(PLEC):c.5471C>T (p.Ala1824Val)
|
rs542642242
|
0.00084
|
NM_000142.5(FGFR3):c.1349C>T (p.Thr450Met)
|
rs56240927
|
0.00083
|
NM_014874.4(MFN2):c.1452G>A (p.Thr484=)
|
rs150043585
|
0.00083
|
NM_000548.5(TSC2):c.3723C>T (p.Phe1241=)
|
rs45486193
|
0.00082
|
NM_006772.3(SYNGAP1):c.1776A>G (p.Ser592=)
|
rs150153477
|
0.00082
|
NM_182961.4(SYNE1):c.21486C>T (p.Ser7162=)
|
rs139078338
|
0.00082
|
NM_000051.4(ATM):c.3925G>A (p.Ala1309Thr)
|
rs149711770
|
0.00081
|
NM_001267550.2(TTN):c.13976A>G (p.Tyr4659Cys)
|
rs34706803
|
0.00081
|
NM_001267550.2(TTN):c.91347T>C (p.Asp30449=)
|
rs193022702
|
0.00081
|
NM_005548.3(KARS1):c.612A>G (p.Thr204=)
|
rs141539149
|
0.00081
|
NM_006946.4(SPTBN2):c.2904G>A (p.Thr968=)
|
rs143948660
|
0.00081
|
NM_201384.3(PLEC):c.8331C>T (p.Tyr2777=)
|
rs141673192
|
0.00081
|
NM_001009944.3(PKD1):c.8247G>A (p.Ala2749=)
|
rs143265128
|
0.00080
|
NM_005097.4(LGI1):c.1A>G (p.Met1Val)
|
rs202204627
|
0.00080
|
NM_182961.4(SYNE1):c.11430G>A (p.Thr3810=)
|
rs137919524
|
0.00080
|
NM_201384.3(PLEC):c.2478C>T (p.Asp826=)
|
rs202135215
|
0.00080
|
NM_014855.3(AP5Z1):c.999C>T (p.Asp333=)
|
rs201196622
|
0.00079
|
NM_000217.3(KCNA1):c.1327C>G (p.Arg443Gly)
|
rs150849316
|
0.00078
|
NM_001271.4(CHD2):c.960A>T (p.Thr320=)
|
rs149632554
|
0.00078
|
NM_001376.5(DYNC1H1):c.2719-6C>T
|
rs199763298
|
0.00078
|
NM_001378452.1(ITPR1):c.5466C>T (p.Asn1822=)
|
rs113368815
|
0.00078
|
NM_005529.7(HSPG2):c.11827G>A (p.Ala3943Thr)
|
rs116630187
|
0.00078
|
NM_015046.7(SETX):c.192A>G (p.Leu64=)
|
rs117326462
|
0.00078
|
NM_000122.2(ERCC3):c.618C>T (p.Ala206=)
|
rs145830873
|
0.00077
|
NM_001378969.1(KCND3):c.1456A>G (p.Thr486Ala)
|
rs149008060
|
0.00077
|
NM_005670.4(EPM2A):c.24G>A (p.Val8=)
|
rs587780938
|
0.00077
|
NM_006946.4(SPTBN2):c.1456G>A (p.Ala486Thr)
|
rs143155918
|
0.00077
|
NM_000069.3(CACNA1S):c.4114-8T>C
|
rs373675720
|
0.00076
|
NM_001243133.2(NLRP3):c.930C>T (p.Asp310=)
|
rs143840033
|
0.00076
|
NM_001267550.2(TTN):c.27702T>C (p.Ile9234=)
|
rs143368674
|
0.00076
|
NM_001267550.2(TTN):c.63942G>A (p.Ser21314=)
|
rs201285872
|
0.00076
|
NM_001458.5(FLNC):c.6175G>A (p.Val2059Met)
|
rs201333104
|
0.00076
|
NM_002087.4(GRN):c.359C>A (p.Ser120Tyr)
|
rs63750043
|
0.00076
|
NM_002473.6(MYH9):c.3192C>T (p.Ile1064=)
|
rs144807538
|
0.00076
|
NM_015046.7(SETX):c.81C>T (p.Ser27=)
|
rs149229231
|
0.00076
|
NM_001009944.3(PKD1):c.11376G>C (p.Ser3792=)
|
rs201509188
|
0.00075
|
NM_014363.6(SACS):c.2146C>T (p.His716Tyr)
|
rs146852400
|
0.00075
|
NM_022089.4(ATP13A2):c.106-8G>A
|
rs200587951
|
0.00075
|
NM_001267550.2(TTN):c.54903C>G (p.Gly18301=)
|
rs190830121
|
0.00074
|
NM_004984.4(KIF5A):c.2272G>A (p.Glu758Lys)
|
rs140281678
|
0.00074
|
NM_001009944.3(PKD1):c.1533C>T (p.Leu511=)
|
rs570750726
|
0.00073
|
NM_015559.3(SETBP1):c.4234C>A (p.Arg1412=)
|
rs145996171
|
0.00073
|
NM_030665.4(RAI1):c.4526A>G (p.Gln1509Arg)
|
rs140063274
|
0.00073
|
NM_006922.4(SCN3A):c.2304T>C (p.Ile768=)
|
rs72870766
|
0.00072
|
NM_015087.5(SPART):c.363C>T (p.Asp121=)
|
rs149393698
|
0.00072
|
NM_021098.3(CACNA1H):c.4584C>T (p.Asn1528=)
|
rs200542719
|
0.00072
|
NM_152564.5(VPS13B):c.11613C>T (p.Phe3871=)
|
rs139436386
|
0.00072
|
NM_000051.4(ATM):c.1744T>C (p.Phe582Leu)
|
rs2235006
|
0.00071
|
NM_000702.4(ATP1A2):c.340G>A (p.Gly114Ser)
|
rs116711766
|
0.00071
|
NM_001267550.2(TTN):c.106578T>A (p.Ser35526=)
|
rs55838839
|
0.00071
|
NM_001278064.2(GRM1):c.444C>G (p.Pro148=)
|
rs138794480
|
0.00071
|
NM_000834.5(GRIN2B):c.228C>T (p.Thr76=)
|
rs77299791
|
0.00070
|
NM_013275.6(ANKRD11):c.2519G>A (p.Arg840Gln)
|
rs149776253
|
0.00070
|
NM_000702.4(ATP1A2):c.2751G>A (p.Thr917=)
|
rs146839867
|
0.00069
|
NM_001267550.2(TTN):c.93900C>T (p.Ser31300=)
|
rs200173934
|
0.00069
|
NM_001330078.2(NRXN1):c.1158+26A>T
|
rs201802152
|
0.00069
|
NM_001330078.2(NRXN1):c.3201C>T (p.Ser1067=)
|
rs75275592
|
0.00069
|
NM_005413.4(SIX3):c.348C>T (p.Pro116=)
|
rs573768953
|
0.00069
|
NM_001134407.3(GRIN2A):c.4307A>G (p.Asn1436Ser)
|
rs77029288
|
0.00068
|
NM_004172.5(SLC1A3):c.1074C>T (p.Thr358=)
|
rs147973032
|
0.00068
|
NM_006516.4(SLC2A1):c.777C>T (p.Ile259=)
|
rs78388808
|
0.00068
|
NM_000548.5(TSC2):c.1387A>G (p.Ile463Val)
|
rs45517171
|
0.00067
|
NM_001083962.2(TCF4):c.1923G>A (p.Glu641=)
|
rs76956936
|
0.00067
|
NM_001134407.3(GRIN2A):c.3827C>G (p.Ala1276Gly)
|
rs145063086
|
0.00067
|
NM_016373.4(WWOX):c.807C>T (p.Asn269=)
|
rs62034095
|
0.00067
|
NM_001378969.1(KCND3):c.5C>A (p.Ala2Glu)
|
rs201340369
|
0.00066
|
NM_004006.3(DMD):c.4233+2C>T
|
rs147474070
|
0.00066
|
NM_005591.4(MRE11):c.120C>T (p.Leu40=)
|
rs1805364
|
0.00066
|
NM_025137.4(SPG11):c.4026A>G (p.Gln1342=)
|
rs139887370
|
0.00066
|
NM_173500.4(TTBK2):c.1929T>C (p.Ala643=)
|
rs376543555
|
0.00066
|
NM_001099922.3(ALG13):c.3093A>G (p.Gln1031=)
|
rs372260338
|
0.00065
|
NM_001278064.2(GRM1):c.2922T>C (p.Pro974=)
|
rs142409803
|
0.00065
|
NM_006516.4(SLC2A1):c.1437C>T (p.Pro479=)
|
rs146879902
|
0.00065
|
NM_014855.3(AP5Z1):c.1964C>T (p.Ser655Leu)
|
rs61750324
|
0.00065
|
NM_021098.3(CACNA1H):c.918C>T (p.Pro306=)
|
rs57468015
|
0.00065
|
NM_001166114.2(PNPLA6):c.3495C>T (p.Ser1165=)
|
rs138837774
|
0.00064
|
NM_004977.3(KCNC3):c.1875G>T (p.Arg625Ser)
|
rs537912602
|
0.00064
|
NM_007126.5(VCP):c.1584C>T (p.Ala528=)
|
rs147623367
|
0.00064
|
NM_001040142.2(SCN2A):c.100G>A (p.Ala34Thr)
|
rs144814658
|
0.00063
|
NM_001267550.2(TTN):c.54710T>C (p.Leu18237Pro)
|
rs201412693
|
0.00063
|
NM_001267550.2(TTN):c.62385C>A (p.Gly20795=)
|
rs72646848
|
0.00063
|
NM_001378452.1(ITPR1):c.3660G>A (p.Ala1220=)
|
rs199960483
|
0.00063
|
NM_001378452.1(ITPR1):c.6912G>A (p.Pro2304=)
|
rs200426774
|
0.00063
|
NM_003900.5(SQSTM1):c.924G>A (p.Ala308=)
|
rs139482113
|
0.00063
|
NM_016239.4(MYO15A):c.3979C>T (p.Leu1327=)
|
rs146245515
|
0.00063
|
NM_182961.4(SYNE1):c.14769A>G (p.Glu4923=)
|
rs141057568
|
0.00063
|
NM_000338.3(SLC12A1):c.3096+7A>T
|
rs200662267
|
0.00062
|
NM_005529.7(HSPG2):c.732A>G (p.Thr244=)
|
rs139842104
|
0.00062
|
NM_201384.3(PLEC):c.7951C>T (p.Arg2651Trp)
|
rs145977158
|
0.00062
|
NM_001244008.2(KIF1A):c.4749C>T (p.Ser1583=)
|
rs371737085
|
0.00061
|
NM_001267550.2(TTN):c.75738A>G (p.Glu25246=)
|
rs371344165
|
0.00061
|
NM_001365536.1(SCN9A):c.4315G>A (p.Val1439Ile)
|
rs149346064
|
0.00061
|
NM_002578.5(PAK3):c.483A>G (p.Ala161=)
|
rs146801179
|
0.00061
|
NM_004172.5(SLC1A3):c.15T>C (p.Asn5=)
|
rs143791614
|
0.00061
|
NM_018136.5(ASPM):c.6717G>C (p.Leu2239=)
|
rs147100928
|
0.00061
|
NM_014855.3(AP5Z1):c.849C>T (p.Ala283=)
|
rs572271008
|
0.00060
|
NM_024301.5(FKRP):c.636G>A (p.Ala212=)
|
rs370099812
|
0.00060
|
NM_000334.4(SCN4A):c.1462G>A (p.Ala488Thr)
|
rs185941768
|
0.00059
|
NM_000334.4(SCN4A):c.952T>C (p.Trp318Arg)
|
rs199676994
|
0.00059
|
NM_001009944.3(PKD1):c.8111C>T (p.Ala2704Val)
|
rs200509641
|
0.00059
|
NM_001267550.2(TTN):c.77205G>A (p.Val25735=)
|
rs55857909
|
0.00059
|
NM_002739.5(PRKCG):c.1836C>T (p.Gly612=)
|
rs56211557
|
0.00059
|
NM_015915.5(ATL1):c.669C>T (p.Tyr223=)
|
rs146975855
|
0.00059
|
NM_001191061.2(SLC25A22):c.876G>A (p.Ala292=)
|
rs146300431
|
0.00058
|
NM_014365.3(HSPB8):c.233G>T (p.Arg78Met)
|
rs55826713
|
0.00058
|
NM_000548.5(TSC2):c.272C>T (p.Pro91Leu)
|
rs45482691
|
0.00057
|
NM_001127222.2(CACNA1A):c.3309C>T (p.Pro1103=)
|
rs374749004
|
0.00057
|
NM_001127222.2(CACNA1A):c.3409C>G (p.Pro1137Ala)
|
rs199793367
|
0.00057
|
NM_003900.5(SQSTM1):c.1245G>A (p.Arg415=)
|
rs148278350
|
0.00057
|
NM_013275.6(ANKRD11):c.2240C>T (p.Ser747Leu)
|
rs138898373
|
0.00057
|
NM_206933.4(USH2A):c.3531T>C (p.Gly1177=)
|
rs149570469
|
0.00057
|
NM_000334.4(SCN4A):c.999C>T (p.Asn333=)
|
rs149726115
|
0.00056
|
NM_001376.5(DYNC1H1):c.8784A>G (p.Gln2928=)
|
rs149753029
|
0.00056
|
NM_005529.7(HSPG2):c.12786C>T (p.Leu4262=)
|
rs141936971
|
0.00056
|
NM_006946.4(SPTBN2):c.3722A>G (p.Glu1241Gly)
|
rs141683210
|
0.00056
|
NM_020919.4(ALS2):c.4416G>A (p.Thr1472=)
|
rs200202953
|
0.00056
|
NM_198994.3(TGM6):c.1011G>A (p.Glu337=)
|
rs142832802
|
0.00056
|
NM_000069.3(CACNA1S):c.369T>C (p.Asn123=)
|
rs148680317
|
0.00055
|
NM_000069.3(CACNA1S):c.345C>T (p.Asp115=)
|
rs144218745
|
0.00054
|
NM_001458.5(FLNC):c.2125G>A (p.Ala709Thr)
|
rs192725607
|
0.00053
|
NM_006946.4(SPTBN2):c.3885C>T (p.Asp1295=)
|
rs146526805
|
0.00053
|
NM_015046.7(SETX):c.3336T>C (p.Ala1112=)
|
rs150687078
|
0.00053
|
NM_020988.3(GNAO1):c.414A>G (p.Gln138=)
|
rs141057479
|
0.00053
|
NM_021625.5(TRPV4):c.2304G>C (p.Ser768=)
|
rs138986228
|
0.00053
|
NM_201384.3(PLEC):c.8040C>T (p.Asp2680=)
|
rs373341589
|
0.00053
|
NM_001267550.2(TTN):c.97386C>T (p.Thr32462=)
|
rs376810671
|
0.00052
|
NM_007126.5(VCP):c.*4G>T
|
rs201091341
|
0.00052
|
NM_000051.4(ATM):c.8592C>T (p.Tyr2864=)
|
rs56025670
|
0.00051
|
NM_004187.5(KDM5C):c.4637G>A (p.Arg1546Gln)
|
rs139569882
|
0.00051
|
NM_015046.7(SETX):c.7914C>T (p.Phe2638=)
|
rs80296256
|
0.00051
|
NM_025219.3(DNAJC5):c.282C>T (p.Asn94=)
|
rs113207069
|
0.00051
|
NM_182961.4(SYNE1):c.24827C>G (p.Ala8276Gly)
|
rs142985368
|
0.00051
|
NM_000447.3(PSEN2):c.336C>T (p.Tyr112=)
|
rs200610057
|
0.00050
|
NM_001267550.2(TTN):c.65604T>C (p.Ala21868=)
|
rs200825430
|
0.00050
|
NM_005529.7(HSPG2):c.11072C>T (p.Thr3691Ile)
|
rs149159881
|
0.00049
|
NM_000142.5(FGFR3):c.1959+8C>T
|
rs371666188
|
0.00048
|
NM_001267550.2(TTN):c.74895A>C (p.Gln24965His)
|
rs201512527
|
0.00048
|
NM_001378452.1(ITPR1):c.66G>A (p.Ser22=)
|
rs112944532
|
0.00048
|
NM_030962.4(SBF2):c.5037C>T (p.Arg1679=)
|
rs200784979
|
0.00048
|
NM_170707.4(LMNA):c.1911C>T (p.Phe637=)
|
rs117939448
|
0.00048
|
NM_024426.6(WT1):c.1131T>C (p.Pro377=)
|
rs151034312
|
0.00047
|
NM_001130438.3(SPTAN1):c.3912C>T (p.Pro1304=)
|
rs143844598
|
0.00046
|
NM_013275.6(ANKRD11):c.306G>C (p.Leu102=)
|
rs150497848
|
0.00046
|
NM_198994.3(TGM6):c.1452C>T (p.Asp484=)
|
rs142748417
|
0.00046
|
NM_001244008.2(KIF1A):c.3330G>A (p.Ala1110=)
|
rs200149062
|
0.00045
|
NM_001267550.2(TTN):c.11370A>G (p.Gln3790=)
|
rs72648918
|
0.00045
|
NM_012233.3(RAB3GAP1):c.411C>T (p.Asp137=)
|
rs140929274
|
0.00045
|
NM_025137.4(SPG11):c.1605C>T (p.Ala535=)
|
rs117683234
|
0.00045
|
NM_000051.4(ATM):c.3342G>A (p.Lys1114=)
|
rs138393322
|
0.00044
|
NM_000334.4(SCN4A):c.2697G>A (p.Leu899=)
|
rs199827271
|
0.00044
|
NM_000400.4(ERCC2):c.1866C>T (p.Gly622=)
|
rs16979773
|
0.00044
|
NM_000814.6(GABRB3):c.1293G>A (p.Arg431=)
|
rs75914945
|
0.00044
|
NM_002087.4(GRN):c.903G>A (p.Ser301=)
|
rs63750142
|
0.00044
|
NM_000435.3(NOTCH3):c.4639C>G (p.Leu1547Val)
|
rs150037063
|
0.00043
|
NM_004519.4(KCNQ3):c.2349G>A (p.Thr783=)
|
rs145063831
|
0.00043
|
NM_013382.7(POMT2):c.1404A>G (p.Lys468=)
|
rs150491326
|
0.00043
|
NM_020247.5(COQ8A):c.258A>C (p.Ala86=)
|
rs137872711
|
0.00043
|
NM_201384.3(PLEC):c.12615C>T (p.Ile4205=)
|
rs202116866
|
0.00043
|
NM_001267550.2(TTN):c.23121G>A (p.Lys7707=)
|
rs72648971
|
0.00042
|
NM_182914.3(SYNE2):c.14528T>A (p.Phe4843Tyr)
|
rs141488398
|
0.00042
|
NM_000368.5(TSC1):c.2285A>G (p.Asn762Ser)
|
rs118203670
|
0.00041
|
NM_001267550.2(TTN):c.81105C>A (p.Thr27035=)
|
rs72648212
|
0.00041
|
NM_002473.6(MYH9):c.4878C>T (p.Ile1626=)
|
rs143947828
|
0.00041
|
NM_005660.3(SLC35A2):c.30C>G (p.Thr10=)
|
rs373480204
|
0.00041
|
NM_198578.4(LRRK2):c.825T>C (p.His275=)
|
rs72546315
|
0.00041
|
NM_017780.4(CHD7):c.2751G>A (p.Thr917=)
|
rs369429961
|
0.00040
|
NM_022464.5(SIL1):c.933G>A (p.Gly311=)
|
rs61744666
|
0.00040
|
NM_201384.3(PLEC):c.8613C>T (p.Cys2871=)
|
rs35821434
|
0.00040
|
NM_001009944.3(PKD1):c.6606G>A (p.Ala2202=)
|
rs367600795
|
0.00039
|
NM_006306.4(SMC1A):c.2824C>T (p.Leu942=)
|
rs139654605
|
0.00039
|
NM_014874.4(MFN2):c.1827C>T (p.Ser609=)
|
rs138724074
|
0.00039
|
NM_015046.7(SETX):c.3345C>G (p.Ala1115=)
|
rs142020270
|
0.00039
|
NM_130837.3(OPA1):c.2984-4A>G
|
rs184273607
|
0.00039
|
NM_001199107.2(TBC1D24):c.204G>A (p.Thr68=)
|
rs201374999
|
0.00038
|
NM_001244008.2(KIF1A):c.2813G>A (p.Arg938Gln)
|
rs192102667
|
0.00038
|
NM_001267550.2(TTN):c.26694G>T (p.Gly8898=)
|
rs199525540
|
0.00038
|
NM_201384.3(PLEC):c.3733C>A (p.Arg1245=)
|
rs367688739
|
0.00038
|
NM_000545.8(HNF1A):c.336G>A (p.Pro112=)
|
rs371365341
|
0.00036
|
NM_015046.7(SETX):c.5283A>G (p.Gln1761=)
|
rs139063885
|
0.00036
|
NM_198994.3(TGM6):c.115A>T (p.Ser39Cys)
|
rs144201778
|
0.00036
|
NM_001267550.2(TTN):c.32049A>G (p.Lys10683=)
|
rs375408527
|
0.00035
|
NM_006946.4(SPTBN2):c.3671A>G (p.Asn1224Ser)
|
rs139077453
|
0.00035
|
NM_182961.4(SYNE1):c.22137C>T (p.Asp7379=)
|
rs148556501
|
0.00035
|
NM_000051.4(ATM):c.2932T>C (p.Ser978Pro)
|
rs139552233
|
0.00034
|
NM_000454.5(SOD1):c.423T>A (p.Ala141=)
|
rs143100660
|
0.00034
|
NM_001083962.2(TCF4):c.966T>C (p.Asp322=)
|
rs142998298
|
0.00034
|
NM_001127222.2(CACNA1A):c.4221C>T (p.Asp1407=)
|
rs201200430
|
0.00034
|
NM_001378452.1(ITPR1):c.7098C>T (p.Gly2366=)
|
rs41290672
|
0.00034
|
NM_022089.4(ATP13A2):c.1926G>A (p.Ala642=)
|
rs200916673
|
0.00034
|
NM_004115.4(FGF14):c.123C>T (p.Asn41=)
|
rs372705140
|
0.00033
|
NM_004281.4(BAG3):c.230C>T (p.Pro77Leu)
|
rs141355480
|
0.00033
|
NM_001161352.2(KCNMA1):c.90C>T (p.His30=)
|
rs75040504
|
0.00032
|
NM_001267550.2(TTN):c.62943T>C (p.Thr20981=)
|
rs184863287
|
0.00032
|
NM_001330260.2(SCN8A):c.4764C>T (p.Phe1588=)
|
rs200728478
|
0.00032
|
NM_001376.5(DYNC1H1):c.7203A>C (p.Lys2401Asn)
|
rs150888094
|
0.00032
|
NM_014363.6(SACS):c.7725A>T (p.Ile2575=)
|
rs200735789
|
0.00032
|
NM_001267550.2(TTN):c.26019C>T (p.His8673=)
|
rs370266918
|
0.00031
|
NM_001267550.2(TTN):c.78855T>C (p.Asp26285=)
|
rs139953862
|
0.00031
|
NM_001378452.1(ITPR1):c.4854C>T (p.Ser1618=)
|
rs373127487
|
0.00031
|
NM_014363.6(SACS):c.2580A>G (p.Gln860=)
|
rs41283958
|
0.00031
|
NM_000092.5(COL4A4):c.3108T>C (p.Gly1036=)
|
rs201962241
|
0.00030
|
NM_000548.5(TSC2):c.1292C>T (p.Ala431Val)
|
rs202187148
|
0.00030
|
NM_001127222.2(CACNA1A):c.1572T>A (p.Ile524=)
|
rs16010
|
0.00030
|
NM_014855.3(AP5Z1):c.2400G>A (p.Arg800=)
|
rs368571200
|
0.00030
|
NM_015340.4(LARS2):c.1622+8G>A
|
rs202009605
|
0.00030
|
NM_000368.5(TSC1):c.1960C>G (p.Gln654Glu)
|
rs75820036
|
0.00029
|
NM_000525.4(KCNJ11):c.843C>T (p.Leu281=)
|
rs116392938
|
0.00029
|
NM_000834.5(GRIN2B):c.4113C>T (p.Tyr1371=)
|
rs146792012
|
0.00029
|
NM_001378452.1(ITPR1):c.3921C>T (p.His1307=)
|
rs61757108
|
0.00029
|
NM_001614.5(ACTG1):c.126C>T (p.Gly42=)
|
rs11549197
|
0.00029
|
NM_003482.4(KMT2D):c.11670C>T (p.Ser3890=)
|
rs376471354
|
0.00029
|
NM_021625.5(TRPV4):c.1464C>T (p.Thr488=)
|
rs146841400
|
0.00029
|
NM_173500.4(TTBK2):c.1555G>C (p.Ala519Pro)
|
rs200124857
|
0.00029
|
NM_001110792.2(MECP2):c.813C>T (p.Ala271=)
|
rs1042870
|
0.00028
|
NM_001267550.2(TTN):c.45273C>T (p.Asn15091=)
|
rs72677223
|
0.00028
|
NM_001267550.2(TTN):c.75762G>T (p.Val25254=)
|
rs374003257
|
0.00028
|
NM_022464.5(SIL1):c.1167C>T (p.Pro389=)
|
rs199890503
|
0.00028
|
NM_173500.4(TTBK2):c.1949C>T (p.Ala650Val)
|
rs369045579
|
0.00028
|
NM_001378452.1(ITPR1):c.5766T>C (p.Asp1922=)
|
rs201311531
|
0.00027
|
NM_001378969.1(KCND3):c.1959C>T (p.Ser653=)
|
rs147087785
|
0.00027
|
NM_006030.4(CACNA2D2):c.669T>C (p.Asn223=)
|
rs141327265
|
0.00027
|
NM_000334.4(SCN4A):c.1653C>T (p.Cys551=)
|
rs201199086
|
0.00026
|
NM_001127222.2(CACNA1A):c.888C>T (p.Asn296=)
|
rs372812865
|
0.00026
|
NM_001267550.2(TTN):c.14535C>T (p.Asp4845=)
|
rs184307461
|
0.00026
|
NM_001267550.2(TTN):c.34845C>T (p.Pro11615=)
|
rs368781863
|
0.00026
|
NM_001267550.2(TTN):c.50719A>G (p.Ile16907Val)
|
rs750610895
|
0.00026
|
NM_001267550.2(TTN):c.79941A>G (p.Gln26647=)
|
rs72648208
|
0.00026
|
NM_004172.5(SLC1A3):c.68G>A (p.Arg23His)
|
rs199774340
|
0.00026
|
NM_020247.5(COQ8A):c.1188C>T (p.Asp396=)
|
rs139133094
|
0.00026
|
NM_000399.5(EGR2):c.174C>T (p.Gly58=)
|
rs143793213
|
0.00024
|
NM_000435.3(NOTCH3):c.5129G>A (p.Gly1710Asp)
|
rs143411026
|
0.00024
|
NM_001244008.2(KIF1A):c.4744-5C>T
|
rs117815481
|
0.00024
|
NM_001267550.2(TTN):c.1050C>T (p.Tyr350=)
|
rs375448572
|
0.00024
|
NM_004977.3(KCNC3):c.579C>G (p.Arg193=)
|
rs138237939
|
0.00024
|
NM_173500.4(TTBK2):c.1618C>T (p.Leu540=)
|
rs369686818
|
0.00024
|
NM_000702.4(ATP1A2):c.339C>T (p.Tyr113=)
|
rs148929192
|
0.00023
|
NM_001040142.2(SCN2A):c.5397T>C (p.Tyr1799=)
|
rs200603552
|
0.00023
|
NM_001127222.2(CACNA1A):c.4311G>A (p.Lys1437=)
|
rs572036869
|
0.00023
|
NM_001267550.2(TTN):c.51678C>T (p.Asn17226=)
|
rs372635204
|
0.00023
|
NM_005249.5(FOXG1):c.1323C>T (p.Ser441=)
|
rs144434028
|
0.00023
|
NM_000069.3(CACNA1S):c.1890G>A (p.Pro630=)
|
rs141717649
|
0.00022
|
NM_001127222.2(CACNA1A):c.1395G>A (p.Ser465=)
|
rs374307014
|
0.00022
|
NM_001378452.1(ITPR1):c.7491C>T (p.Ser2497=)
|
rs371986594
|
0.00022
|
NM_000702.4(ATP1A2):c.2130C>T (p.Ala710=)
|
rs374749325
|
0.00021
|
NM_001184880.2(PCDH19):c.1725C>T (p.Val575=)
|
rs200471732
|
0.00021
|
NM_001267550.2(TTN):c.12195T>C (p.Leu4065=)
|
rs201129413
|
0.00021
|
NM_001378452.1(ITPR1):c.7389C>T (p.Phe2463=)
|
rs200487406
|
0.00021
|
NM_003560.4(PLA2G6):c.2417C>G (p.Pro806Arg)
|
rs140758033
|
0.00021
|
NM_006946.4(SPTBN2):c.2064C>T (p.Gly688=)
|
rs376219874
|
0.00021
|
NM_024306.5(FA2H):c.271-8C>A
|
rs199610820
|
0.00021
|
NM_152296.5(ATP1A3):c.1695C>T (p.Asp565=)
|
rs375255226
|
0.00021
|
NM_182961.4(SYNE1):c.26298A>G (p.Pro8766=)
|
rs200880341
|
0.00021
|
NM_201384.3(PLEC):c.2140A>G (p.Ile714Val)
|
rs189137260
|
0.00021
|
NM_000702.4(ATP1A2):c.2273G>C (p.Gly758Ala)
|
rs147183887
|
0.00020
|
NM_001182.5(ALDH7A1):c.39A>G (p.Ala13=)
|
rs201566142
|
0.00020
|
NM_004006.3(DMD):c.6571C>T (p.Arg2191Trp)
|
rs149322279
|
0.00020
|
NM_130837.3(OPA1):c.2592T>C (p.Leu864=)
|
rs145999595
|
0.00020
|
NM_000051.4(ATM):c.1272T>C (p.Pro424=)
|
rs35578748
|
0.00019
|
NM_001009944.3(PKD1):c.3600G>A (p.Ala1200=)
|
rs372882189
|
0.00019
|
NM_001034116.2(EIF2B4):c.372A>G (p.Gly124=)
|
rs141872864
|
0.00019
|
NM_001127222.2(CACNA1A):c.1995G>A (p.Thr665=)
|
rs376641545
|
0.00019
|
NM_001127222.2(CACNA1A):c.2955G>C (p.Pro985=)
|
rs749357610
|
0.00019
|
NM_001267550.2(TTN):c.8069C>T (p.Thr2690Ile)
|
rs374620001
|
0.00019
|
NM_014363.6(SACS):c.99T>C (p.Asp33=)
|
rs775206528
|
0.00019
|
NM_020822.3(KCNT1):c.474G>A (p.Ser158=)
|
rs139076605
|
0.00019
|
NM_130837.3(OPA1):c.88C>T (p.Leu30=)
|
rs185976555
|
0.00019
|
NM_145239.3(PRRT2):c.225G>A (p.Pro75=)
|
rs199662641
|
0.00019
|
NM_201384.3(PLEC):c.8742C>T (p.Phe2914=)
|
rs201211875
|
0.00019
|
NM_001267550.2(TTN):c.25209T>C (p.Asp8403=)
|
rs569860898
|
0.00018
|
NM_001267550.2(TTN):c.63439G>A (p.Ala21147Thr)
|
rs72646853
|
0.00018
|
NM_005045.4(RELN):c.10093G>A (p.Val3365Ile)
|
rs115035120
|
0.00018
|
NM_020822.3(KCNT1):c.3001A>G (p.Thr1001Ala)
|
rs143780942
|
0.00018
|
NM_000545.8(HNF1A):c.1500C>T (p.His500=)
|
rs201694197
|
0.00017
|
NM_001376.5(DYNC1H1):c.2025T>C (p.Asn675=)
|
rs140154194
|
0.00017
|
NM_014363.6(SACS):c.11928T>C (p.Ser3976=)
|
rs145680118
|
0.00017
|
NM_000069.3(CACNA1S):c.1143C>T (p.Phe381=)
|
rs144883479
|
0.00016
|
NM_001009944.3(PKD1):c.9009G>A (p.Ala3003=)
|
rs374619113
|
0.00016
|
NM_001127222.2(CACNA1A):c.1983T>C (p.Phe661=)
|
rs368033271
|
0.00016
|
NM_001127222.2(CACNA1A):c.3384G>A (p.Pro1128=)
|
rs370541345
|
0.00016
|
NM_001127222.2(CACNA1A):c.4410C>T (p.Asp1470=)
|
rs374555263
|
0.00016
|
NM_004172.5(SLC1A3):c.1425-8G>C
|
rs202233020
|
0.00016
|
NM_004172.5(SLC1A3):c.676C>G (p.Arg226Gly)
|
rs201069745
|
0.00016
|
NM_006946.4(SPTBN2):c.6798G>A (p.Ala2266=)
|
rs140748364
|
0.00016
|
NM_006946.4(SPTBN2):c.768C>T (p.Pro256=)
|
rs201821131
|
0.00016
|
NM_020919.4(ALS2):c.1578A>G (p.Thr526=)
|
rs147284131
|
0.00016
|
NM_152296.5(ATP1A3):c.6+3A>G
|
rs369853936
|
0.00016
|
NM_198578.4(LRRK2):c.3342A>G (p.Leu1114=)
|
rs35808389
|
0.00016
|
NM_000217.3(KCNA1):c.114C>T (p.Arg38=)
|
rs146308797
|
0.00015
|
NM_001267550.2(TTN):c.104414G>A (p.Arg34805Gln)
|
rs115150240
|
0.00015
|
NM_001378452.1(ITPR1):c.2727G>A (p.Lys909=)
|
rs187516662
|
0.00015
|
NM_021625.5(TRPV4):c.1278G>A (p.Thr426=)
|
rs139179261
|
0.00015
|
NM_182961.4(SYNE1):c.25120-6A>G
|
rs201898019
|
0.00015
|
NM_001122955.4(BSCL2):c.133G>A (p.Gly45Ser)
|
rs3763853
|
0.00014
|
NM_001127222.2(CACNA1A):c.6483C>T (p.Arg2161=)
|
rs745609731
|
0.00014
|
NM_001267550.2(TTN):c.25758C>T (p.Asp8586=)
|
rs372802604
|
0.00014
|
NM_006946.4(SPTBN2):c.3963A>G (p.Ala1321=)
|
rs142480868
|
0.00014
|
NM_000089.4(COL1A2):c.2904C>T (p.Pro968=)
|
rs142352627
|
0.00013
|
NM_001009944.3(PKD1):c.7848C>T (p.Val2616=)
|
rs143124196
|
0.00013
|
NM_015915.5(ATL1):c.1173C>T (p.His391=)
|
rs149340140
|
0.00013
|
NM_000257.4(MYH7):c.240C>T (p.Asn80=)
|
rs200493975
|
0.00012
|
NM_000548.5(TSC2):c.2451C>T (p.Asp817=)
|
rs201442542
|
0.00012
|
NM_001127222.2(CACNA1A):c.3618A>G (p.Glu1206=)
|
rs201236364
|
0.00012
|
NM_001267550.2(TTN):c.102156G>T (p.Arg34052=)
|
rs376894729
|
0.00012
|
NM_001376.5(DYNC1H1):c.10887C>T (p.Phe3629=)
|
rs141133453
|
0.00012
|
NM_006946.4(SPTBN2):c.2022C>T (p.Thr674=)
|
rs377439463
|
0.00012
|
NM_000748.3(CHRNB2):c.109C>T (p.Leu37=)
|
rs71651693
|
0.00011
|
NM_001267550.2(TTN):c.16716A>G (p.Pro5572=)
|
rs367821526
|
0.00011
|
NM_001378452.1(ITPR1):c.7506C>T (p.Ser2502=)
|
rs375227391
|
0.00011
|
NM_004977.3(KCNC3):c.23C>G (p.Ser8Trp)
|
rs761806977
|
0.00011
|
NM_152296.5(ATP1A3):c.2226C>T (p.Asp742=)
|
rs146600566
|
0.00011
|
NM_005045.4(RELN):c.1344C>G (p.Gly448=)
|
rs144150588
|
0.00010
|
NM_014159.7(SETD2):c.2798G>T (p.Gly933Val)
|
rs202209141
|
0.00010
|
NM_182961.4(SYNE1):c.21924G>A (p.Glu7308=)
|
rs371017408
|
0.00010
|
NM_198994.3(TGM6):c.951C>T (p.Phe317=)
|
rs201333931
|
0.00010
|
NM_000051.4(ATM):c.5005+7_5005+8del
|
rs587780626
|
0.00009
|
NM_001077365.2(POMT1):c.1149C>T (p.His383=)
|
rs202121299
|
0.00009
|
NM_001267550.2(TTN):c.17183-7C>T
|
rs371785683
|
0.00009
|
NM_001165963.4(SCN1A):c.4557G>A (p.Pro1519=)
|
rs368785509
|
0.00008
|
NM_001244008.2(KIF1A):c.5070G>A (p.Thr1690=)
|
rs201733233
|
0.00008
|
NM_001267550.2(TTN):c.33742+8C>T
|
rs375939001
|
0.00008
|
NM_001267550.2(TTN):c.77913T>C (p.Tyr25971=)
|
rs72648203
|
0.00008
|
NM_001376.5(DYNC1H1):c.6795C>T (p.Tyr2265=)
|
rs200339812
|
0.00008
|
NM_170707.4(LMNA):c.471G>A (p.Thr157=)
|
rs150645079
|
0.00008
|
NM_001009944.3(PKD1):c.5453C>T (p.Ala1818Val)
|
rs746910149
|
0.00007
|
NM_001097577.3(ANG):c.132C>T (p.Gly44=)
|
rs147701713
|
0.00007
|
NM_001267550.2(TTN):c.561G>A (p.Ser187=)
|
rs141444282
|
0.00007
|
NM_001267550.2(TTN):c.70506G>T (p.Gly23502=)
|
rs181702963
|
0.00007
|
NM_001267550.2(TTN):c.77073T>C (p.Asp25691=)
|
rs375398118
|
0.00007
|
NM_002693.3(POLG):c.3559C>T (p.Arg1187Trp)
|
rs369544574
|
0.00007
|
NM_201384.3(PLEC):c.5508G>A (p.Ala1836=)
|
rs782631413
|
0.00007
|
NM_000021.4(PSEN1):c.96T>C (p.Asn32=)
|
rs201759335
|
0.00006
|
NM_001002295.2(GATA3):c.216G>T (p.Val72=)
|
rs560531559
|
0.00006
|
NM_001032221.6(STXBP1):c.1320C>T (p.Ile440=)
|
rs370249358
|
0.00006
|
NM_001267550.2(TTN):c.107089G>C (p.Glu35697Gln)
|
rs199531140
|
0.00006
|
NM_001267550.2(TTN):c.49758T>C (p.Tyr16586=)
|
rs72677247
|
0.00006
|
NM_001267550.2(TTN):c.95406A>G (p.Arg31802=)
|
rs199652273
|
0.00006
|
NM_001961.4(EEF2):c.522C>T (p.Leu174=)
|
rs555068664
|
0.00006
|
NM_006516.4(SLC2A1):c.19-5C>T
|
rs376653618
|
0.00006
|
NM_152296.5(ATP1A3):c.2886C>T (p.Pro962=)
|
rs141412861
|
0.00006
|
NM_000334.4(SCN4A):c.1710C>T (p.Ile570=)
|
rs760067411
|
0.00005
|
NM_001032221.6(STXBP1):c.281C>T (p.Pro94Leu)
|
rs200802985
|
0.00005
|
NM_201384.3(PLEC):c.4326G>A (p.Ala1442=)
|
rs369943756
|
0.00005
|
NM_000334.4(SCN4A):c.5367G>A (p.Ser1789=)
|
rs189230866
|
0.00004
|
NM_000435.3(NOTCH3):c.963C>T (p.Ala321=)
|
rs538938551
|
0.00004
|
NM_001111125.3(IQSEC2):c.3364C>T (p.Arg1122Cys)
|
rs782697291
|
0.00004
|
NM_001376.5(DYNC1H1):c.5970C>T (p.Tyr1990=)
|
rs751526144
|
0.00004
|
NM_005629.4(SLC6A8):c.975A>C (p.Thr325=)
|
rs782517934
|
0.00004
|
NM_014363.6(SACS):c.5461T>C (p.Cys1821Arg)
|
rs376680832
|
0.00004
|
NM_015046.7(SETX):c.2502A>G (p.Gly834=)
|
rs762818441
|
0.00004
|
NM_182961.4(SYNE1):c.15451G>A (p.Val5151Met)
|
rs199996504
|
0.00004
|
NM_000834.5(GRIN2B):c.3837T>G (p.Thr1279=)
|
rs1806200
|
0.00003
|
NM_201384.3(PLEC):c.13575G>A (p.Ser4525=)
|
rs549882307
|
0.00003
|
NM_015046.7(SETX):c.5535C>T (p.Arg1845=)
|
rs200433173
|
0.00002
|
NM_001005361.3(DNM2):c.2201A>G (p.Asn734Ser)
|
rs577767034
|
0.00001
|
NM_001134407.3(GRIN2A):c.990G>A (p.Pro330=)
|
rs149902963
|
0.00001
|
NM_006946.4(SPTBN2):c.4279-8G>A
|
rs369614446
|
0.00001
|
NM_006946.4(SPTBN2):c.963C>T (p.Ile321=)
|
rs1456985458
|
0.00001
|
NM_175914.5(HNF4A):c.123C>T (p.Cys41=)
|
rs147552575
|
0.00001
|
NM_000051.4(ATM):c.2805G>C (p.Thr935=)
|
rs55934812
|
|
NM_000069.3(CACNA1S):c.2454G>T (p.Ala818=)
|
rs141619541
|
|
NM_000092.5(COL4A4):c.2367A>T (p.Gly789=)
|
rs56247709
|
|
NM_000238.4(KCNH2):c.551GCGCGGGCG[1] (p.184GAG[1])
|
rs551056698
|
|
NM_000260.4(MYO7A):c.133-7C>T
|
rs111033221
|
|
NM_000297.4(PKD2):c.290AGG[7] (p.Glu102dup)
|
rs750077647
|
|
NM_000334.4(SCN4A):c.483-5C>A
|
rs191547933
|
|
NM_000435.3(NOTCH3):c.4869G>C (p.Pro1623=)
|
rs148574670
|
|
NM_000458.4(HNF1B):c.244G>A (p.Asp82Asn)
|
|
|
NM_000458.4(HNF1B):c.657C>T (p.Ser219=)
|
rs148713761
|
|
NM_000500.9(CYP21A2):c.552C>G (p.Asp184Glu)
|
rs397515531
|
|
NM_000548.5(TSC2):c.5094C>A (p.Ser1698Arg)
|
rs45514196
|
|
NM_000702.4(ATP1A2):c.1652-7C>A
|
rs200102433
|
|
NM_000784.4(CYP27A1):c.1471G>T (p.Ala491Ser)
|
rs72551323
|
|
NM_001009944.3(PKD1):c.4452G>A (p.Pro1484=)
|
rs201988915
|
|
NM_001032382.2(PQBP1):c.334_354del (p.Gly113_Arg119del)
|
rs606231198
|
|
NM_001099922.3(ALG13):c.2380GAA[1] (p.Glu795del)
|
rs772766102
|
|
NM_001127222.2(CACNA1A):c.3601AAG[1] (p.Lys1202del)
|
rs772989979
|
|
NM_001127222.2(CACNA1A):c.7440C>G (p.His2480Gln)
|
rs539546830
|
|
NM_001128840.3(CACNA1D):c.3279G>A (p.Ala1093=)
|
rs36061665
|
|
NM_001128840.3(CACNA1D):c.5767_5769del (p.Phe1923del)
|
rs72556363
|
|
NM_001134407.3(GRIN2A):c.422C>T (p.Thr141Met)
|
rs78631453
|
|
NM_001145809.2(MYH14):c.192G>T (p.Gly64=)
|
rs181055215
|
|
NM_001244008.2(KIF1A):c.204G>T (p.Ala68=)
|
rs141052770
|
|
NM_001267550.2(TTN):c.13194A>G (p.Gln4398=)
|
rs375347596
|
|
NM_001267550.2(TTN):c.15178G>C (p.Val5060Leu)
|
rs72648929
|
|
NM_001267550.2(TTN):c.3241G>A (p.Ala1081Thr)
|
rs55914517
|
|
NM_001267550.2(TTN):c.38708-4T>C
|
rs200819643
|
|
NM_001267550.2(TTN):c.40408+8del
|
rs727504922
|
|
NM_001267550.2(TTN):c.45053C>T (p.Ala15018Val)
|
rs72677221
|
|
NM_001267550.2(TTN):c.45120T>G (p.Ile15040Met)
|
rs74580375
|
|
NM_001267550.2(TTN):c.5993G>A (p.Arg1998His)
|
rs144135510
|
|
NM_001267550.2(TTN):c.97760G>A (p.Arg32587His)
|
rs55704830
|
|
NM_001278064.2(GRM1):c.3213T>C (p.Pro1071=)
|
rs1047006
|
|
NM_001286445.3(RIPOR2):c.368C>A (p.Thr123Lys)
|
rs145166802
|
|
NM_001370298.3(FGD4):c.2122C>A (p.Pro708Thr)
|
rs144693221
|
|
NM_001371623.1(TCOF1):c.827_844del (p.Gly276_Glu281del)
|
rs528897827
|
|
NM_001378452.1(ITPR1):c.3705C>T (p.Ala1235=)
|
rs34635052
|
|
NM_001845.6(COL4A1):c.2705C>G (p.Pro902Arg)
|
rs146134172
|
|
NM_001845.6(COL4A1):c.3326-13dup
|
rs139122216
|
|
NM_002206.3(ITGA7):c.1410-3del
|
rs773251917
|
|
NM_002693.3(POLG):c.264C>T (p.Phe88=)
|
rs144439703
|
|
NM_003482.4(KMT2D):c.15555C>T (p.Phe5185=)
|
rs575965702
|
|
NM_004082.5(DCTN1):c.2432C>G (p.Pro811Arg)
|
rs150928856
|
|
NM_005529.7(HSPG2):c.3707C>A (p.Ala1236Glu)
|
rs113652076
|
|
NM_005529.7(HSPG2):c.6141T>C (p.Asp2047=)
|
rs150129885
|
|
NM_005529.7(HSPG2):c.8545G>T (p.Val2849Leu)
|
rs147114700
|
|
NM_007078.3(LDB3):c.465C>T (p.Leu155=)
|
rs45516997
|
|
NM_013275.6(ANKRD11):c.3045C>G (p.Pro1015=)
|
rs150652124
|
|
NM_013275.6(ANKRD11):c.6597C>G (p.Leu2199=)
|
rs762643863
|
|
NM_014363.6(SACS):c.3427C>A (p.Gln1143Lys)
|
rs144267558
|
|
NM_014363.6(SACS):c.8022T>C (p.Phe2674=)
|
rs34928783
|
|
NM_015046.7(SETX):c.3057TGA[7] (p.Asp1024dup)
|
rs572772837
|
|
NM_015346.4(ZFYVE26):c.4197C>T (p.Thr1399=)
|
rs35018134
|
|
NM_015443.4(KANSL1):c.680G>A (p.Ser227Asn)
|
rs150345690
|
|
NM_016373.4(WWOX):c.1239C>T (p.Ser413=)
|
rs199576434
|
|
NM_017780.4(CHD7):c.2053_2058dup (p.Ala685_Lys686dup)
|
rs377139749
|
|
NM_020247.5(COQ8A):c.697G>A (p.Ala233Thr)
|
rs376462712
|
|
NM_021625.5(TRPV4):c.396G>A (p.Pro132=)
|
rs114101785
|
|
NM_022489.4(INF2):c.1582C>T (p.Pro528Ser)
|
rs181694819
|
|
NM_030665.4(RAI1):c.3778GAG[1] (p.Glu1261del)
|
rs149716029
|
|
NM_032119.4(ADGRV1):c.5830G>A (p.Asp1944Asn)
|
rs41302834
|
|
NM_032634.4(PIGO):c.714C>T (p.Gly238=)
|
rs148186264
|
|
NM_032737.4(LMNB2):c.402C>T (p.Ser134=)
|
rs148213507
|
|
NM_145239.3(PRRT2):c.647C>T (p.Pro216Leu)
|
rs76335820
|
|
NM_152743.4(BRAT1):c.2169T>A (p.Leu723=)
|
rs150300694
|
|
NM_153026.3(PRICKLE1):c.954C>T (p.Ser318=)
|
rs139421676
|
|
NM_170707.4(LMNA):c.1551G>A (p.Gln517=)
|
rs41314035
|
|
NM_182961.4(SYNE1):c.5070C>G (p.Val1690=)
|
rs146789107
|
|
NM_198994.3(TGM6):c.1953_1955dup (p.Gln652dup)
|
rs557817405
|
|
NM_201378.4(PLEC):c.71-3797C>G
|
rs190108480
|
|
NM_201384.3(PLEC):c.378T>G (p.Ala126=)
|
rs6993938
|
|
NM_201384.3(PLEC):c.4598G>A (p.Arg1533Gln)
|
rs201430180
|
|
NM_201384.3(PLEC):c.7830G>A (p.Ala2610=)
|
rs376112916
|
|