NM_001111.5(ADAR):c.298A>G (p.Arg100Gly)
|
rs1466731
|
0.99604
|
NM_016239.4(MYO15A):c.7185T>C (p.Phe2395=)
|
rs2955379
|
0.99481
|
NM_001122659.3(EDNRB):c.552T>C (p.Ser184=)
|
rs5348
|
0.98435
|
NM_001171.6(ABCC6):c.2542A>G (p.Met848Val)
|
rs6416668
|
0.96848
|
NM_001814.6(CTSC):c.458T>C (p.Ile153Thr)
|
rs217086
|
0.87257
|
NM_000518.5(HBB):c.9T>C (p.His3=)
|
rs713040
|
0.82706
|
NM_006005.3(WFS1):c.997G>A (p.Val333Ile)
|
rs1801212
|
0.80149
|
NM_000271.5(NPC1):c.1926G>C (p.Met642Ile)
|
rs1788799
|
0.73957
|
NM_138694.4(PKHD1):c.12143A>G (p.Gln4048Arg)
|
rs9381994
|
0.52715
|
NM_000260.4(MYO7A):c.783T>C (p.Gly261=)
|
rs762667
|
0.50077
|
NM_000092.5(COL4A4):c.4080G>A (p.Pro1360=)
|
rs2228556
|
0.46753
|
NM_004393.6(DAG1):c.*250T>C
|
rs1050088
|
0.39364
|
NM_000506.5(F2):c.1726-59G>A
|
rs3136516
|
0.38221
|
NM_001378454.1(ALMS1):c.6854G>C (p.Arg2285Pro)
|
rs6546839
|
0.38002
|
NM_004100.5(EYA4):c.829G>A (p.Gly277Ser)
|
rs9493627
|
0.37885
|
NM_000287.4(PEX6):c.883-3T>C
|
rs9986447
|
0.36088
|
NM_015311.3(OBSL1):c.580C>T (p.Leu194=)
|
rs1061399
|
0.35689
|
NM_022124.6(CDH23):c.7055-16A>G
|
rs4747193
|
0.34615
|
NM_032119.4(ADGRV1):c.6695A>G (p.Tyr2232Cys)
|
rs10037067
|
0.33642
|
NM_032119.4(ADGRV1):c.5960C>T (p.Pro1987Leu)
|
rs4916685
|
0.32486
|
NM_032119.4(ADGRV1):c.7206G>A (p.Glu2402=)
|
rs16876822
|
0.31193
|
NM_032119.4(ADGRV1):c.7034A>G (p.Asn2345Ser)
|
rs2366926
|
0.31179
|
NM_032119.4(ADGRV1):c.6952-10G>A
|
rs10040165
|
0.31172
|
NM_001171.6(ABCC6):c.1245G>A (p.Val415=)
|
rs9940825
|
0.30255
|
NM_032119.4(ADGRV1):c.9927T>G (p.Pro3309=)
|
rs16869042
|
0.30112
|
NM_000180.4(GUCY2D):c.154G>T (p.Ala52Ser)
|
rs61749665
|
0.29501
|
NM_024596.5(MCPH1):c.2482C>T (p.Pro828Ser)
|
rs1057091
|
0.26146
|
NM_001386140.1(MTTP):c.383T>C (p.Ile128Thr)
|
rs3816873
|
0.26064
|
NM_001079802.2(FKTN):c.608G>A (p.Arg203Gln)
|
rs34787999
|
0.25357
|
NM_001384140.1(PCDH15):c.1263T>C (p.Thr421=)
|
rs7921598
|
0.23801
|
NM_000277.3(PAH):c.353-22C>T
|
rs2037639
|
0.23047
|
NM_001171.6(ABCC6):c.3803G>A (p.Arg1268Gln)
|
rs2238472
|
0.22903
|
NM_004999.4(MYO6):c.2658+17C>T
|
rs2295936
|
0.22603
|
NM_000320.2(QDPR):c.-81delC
|
rs67496406
|
0.22322
|
NM_000277.3(PAH):c.168+19T>C
|
rs17842947
|
0.21168
|
NM_022124.6(CDH23):c.1469G>C (p.Gly490Ala)
|
rs1227049
|
0.20047
|
NM_000277.3(PAH):c.735G>A (p.Val245=)
|
rs1042503
|
0.19782
|
NM_206933.4(USH2A):c.11504C>T (p.Thr3835Ile)
|
rs11120616
|
0.19146
|
NM_001171.6(ABCC6):c.2490C>T (p.Ala830=)
|
rs9924755
|
0.17690
|
NM_002473.6(MYH9):c.4876A>G (p.Ile1626Val)
|
rs2269529
|
0.17342
|
NM_000019.4(ACAT1):c.471C>A (p.Ser157=)
|
rs35188041
|
0.16806
|
NM_001267550.2(TTN):c.8902+14del
|
rs573000455
|
0.16798
|
NM_001267550.2(TTN):c.8902+16del
|
rs570467105
|
0.16737
|
NM_032119.4(ADGRV1):c.13599A>G (p.Thr4533=)
|
rs17554631
|
0.15645
|
NM_022124.6(CDH23):c.1449+130T>C
|
rs2305209
|
0.14152
|
NM_004999.4(MYO6):c.553+11T>C
|
rs12210963
|
0.13246
|
NM_002335.4(LRP5):c.1015+15C>T
|
rs201268200
|
0.11677
|
NM_032119.4(ADGRV1):c.18741G>A (p.Gly6247=)
|
rs13158963
|
0.11513
|
NM_153717.3(EVC):c.802-15del
|
rs369153323
|
0.10885
|
NM_000492.4(CFTR):c.1210-13G>T
|
rs10229820
|
0.09791
|
NM_032119.4(ADGRV1):c.8730+10_8730+11insC
|
rs377585302
|
0.06843
|
NM_001171.6(ABCC6):c.793A>G (p.Arg265Gly)
|
rs72657698
|
0.06836
|
NM_004004.6(GJB2):c.*111C>T
|
rs7329857
|
0.06802
|
NM_213599.3(ANO5):c.879-18T>C
|
rs7104758
|
0.06440
|
NM_002693.3(POLG):c.3708G>T (p.Gln1236His)
|
rs3087374
|
0.06272
|
NM_032119.4(ADGRV1):c.4506C>T (p.Pro1502=)
|
rs17543819
|
0.05741
|
NM_170707.4(LMNA):c.810+13G>T
|
rs11264444
|
0.05317
|
NM_000260.4(MYO7A):c.5156A>G (p.Tyr1719Cys)
|
rs77625410
|
0.04825
|
NM_206933.4(USH2A):c.8656C>T (p.Leu2886Phe)
|
rs41277200
|
0.04760
|
NM_022124.6(CDH23):c.3625A>G (p.Thr1209Ala)
|
rs41281314
|
0.04612
|
NM_206933.4(USH2A):c.15522T>C (p.Tyr5174=)
|
rs77792891
|
0.04524
|
NM_018136.5(ASPM):c.3269C>T (p.Ser1090Phe)
|
rs16841081
|
0.04499
|
NM_002454.3(MTRR):c.1155G>A (p.Leu385=)
|
rs2287779
|
0.04224
|
NM_173477.5(USH1G):c.388A>G (p.Lys130Glu)
|
rs111033465
|
0.03966
|
NM_000180.4(GUCY2D):c.2101C>T (p.Pro701Ser)
|
rs34598902
|
0.03505
|
NM_002335.4(LRP5):c.1999G>A (p.Val667Met)
|
rs4988321
|
0.03472
|
NM_001256317.3(TMPRSS3):c.268G>A (p.Ala90Thr)
|
rs45598239
|
0.03352
|
NM_002109.6(HARS1):c.951+19G>A
|
rs73271581
|
0.03048
|
NM_000277.3(PAH):c.707-7A>T
|
rs62508624
|
0.02868
|
NM_000067.3(CA2):c.754A>G (p.Asn252Asp)
|
rs2228063
|
0.02817
|
NM_194248.3(OTOF):c.158C>T (p.Ala53Val)
|
rs1879761
|
0.02762
|
NM_002693.3(POLG):c.3428A>G (p.Glu1143Gly)
|
rs2307441
|
0.02704
|
NM_004525.3(LRP2):c.12151+4T>C
|
rs17848192
|
0.02665
|
NM_004618.5(TOP3A):c.315-4C>G
|
rs7217776
|
0.02640
|
NM_000329.3(RPE65):c.1301C>T (p.Ala434Val)
|
rs34627040
|
0.02403
|
NM_000337.6(SGCD):c.*7596A>G
|
rs80115276
|
0.02244
|
NM_032119.4(ADGRV1):c.7229A>G (p.Tyr2410Cys)
|
rs111033430
|
0.02235
|
NM_001351132.2(PEX5):c.815T>C (p.Met272Thr)
|
rs76708142
|
0.02223
|
NM_000260.4(MYO7A):c.2035G>A (p.Val679Ile)
|
rs35641839
|
0.01879
|
NM_000243.3(MEFV):c.-614C>G
|
rs11466012
|
0.01850
|
NM_001267550.2(TTN):c.49648+16T>C
|
rs57677875
|
0.01831
|
NM_001171.6(ABCC6):c.2836C>A (p.Leu946Ile)
|
rs61340537
|
0.01730
|
NM_031885.5(BBS2):c.612+12C>A
|
rs77019529
|
0.01713
|
NM_194248.3(OTOF):c.3608A>G (p.Asn1203Ser)
|
rs61740776
|
0.01706
|
NM_032119.4(ADGRV1):c.1652T>C (p.Val551Ala)
|
rs6889939
|
0.01679
|
NM_002292.4(LAMB2):c.1764C>T (p.Pro588=)
|
rs33942096
|
0.01677
|
NM_021252.5(RAB18):c.260-7dup
|
rs142609338
|
0.01674
|
NM_000271.5(NPC1):c.1503C>T (p.Asp501=)
|
rs116046557
|
0.01665
|
NM_198428.3(BBS9):c.1546C>A (p.Pro516Thr)
|
rs73688160
|
0.01649
|
NM_000426.4(LAMA2):c.8691A>G (p.Arg2897=)
|
rs2228599
|
0.01648
|
NM_005529.7(HSPG2):c.2869A>C (p.Asn957His)
|
rs62618730
|
0.01621
|
NM_001199799.2(ILDR1):c.1162T>C (p.Trp388Arg)
|
rs35661993
|
0.01612
|
NM_000360.4(TH):c.1035G>T (p.Ala345=)
|
rs11826260
|
0.01611
|
NM_004715.5(CTDP1):c.492+7C>T
|
rs115851227
|
0.01593
|
NM_001171.6(ABCC6):c.1344G>A (p.Leu448=)
|
rs58703366
|
0.01571
|
NM_001267550.2(TTN):c.4246C>T (p.Arg1416Cys)
|
rs72647875
|
0.01559
|
NM_001267550.2(TTN):c.106476T>C (p.Cys35492=)
|
rs6725673
|
0.01548
|
NM_194248.3(OTOF):c.2464C>T (p.Arg822Trp)
|
rs80356570
|
0.01518
|
NM_147127.5(EVC2):c.3040C>G (p.Leu1014Val)
|
rs75829835
|
0.01478
|
NM_000441.2(SLC26A4):c.2218G>A (p.Gly740Ser)
|
rs17154353
|
0.01449
|
NM_002860.4(ALDH18A1):c.1115C>A (p.Ser372Tyr)
|
rs3765571
|
0.01418
|
NM_020247.5(COQ8A):c.993C>T (p.Phe331=)
|
rs41303129
|
0.01390
|
NM_003052.5(SLC34A1):c.389-5C>T
|
rs189794265
|
0.01364
|
NM_153676.4(USH1C):c.388G>A (p.Val130Ile)
|
rs55843567
|
0.01363
|
NM_001267550.2(TTN):c.65516C>T (p.Ala21839Val)
|
rs55948748
|
0.01336
|
NM_004525.3(LRP2):c.3452C>T (p.Pro1151Leu)
|
rs150552608
|
0.01319
|
NM_024753.5(TTC21B):c.665A>T (p.Gln222Leu)
|
rs80026831
|
0.01296
|
NM_024753.5(TTC21B):c.838A>G (p.Met280Val)
|
rs112868646
|
0.01295
|
NM_004525.3(LRP2):c.7253A>G (p.Glu2418Gly)
|
rs61995915
|
0.01278
|
NM_001267550.2(TTN):c.104576G>A (p.Arg34859Gln)
|
rs68080670
|
0.01276
|
NM_000271.5(NPC1):c.2103C>T (p.Asn701=)
|
rs7227375
|
0.01251
|
NM_206933.4(USH2A):c.5572+15G>A
|
rs17026052
|
0.01200
|
NM_001098484.3(SLC4A4):c.2176C>T (p.Leu726=)
|
rs16846517
|
0.01187
|
NM_024301.5(FKRP):c.585C>T (p.Asp195=)
|
rs75079578
|
0.01080
|
NM_001376256.1(CRYM):c.741C>T (p.Tyr247=)
|
rs34045013
|
0.01064
|
NM_004525.3(LRP2):c.13134C>G (p.Pro4378=)
|
rs73970129
|
0.01063
|
NM_001256317.3(TMPRSS3):c.952+17A>G
|
rs115489719
|
0.01047
|
NM_022124.6(CDH23):c.4858G>A (p.Val1620Met)
|
rs41281330
|
0.01037
|
NM_198999.3(SLC26A5):c.989A>G (p.Asn330Ser)
|
rs117444825
|
0.00990
|
NM_139319.3(SLC17A8):c.54G>A (p.Lys18=)
|
rs11568528
|
0.00987
|
NM_001083961.2(WDR62):c.2975C>T (p.Ser992Leu)
|
rs74518295
|
0.00953
|
NM_004415.4(DSP):c.4609C>T (p.Arg1537Cys)
|
rs28763967
|
0.00925
|
NM_004415.4(DSP):c.5498A>T (p.Glu1833Val)
|
rs78652302
|
0.00908
|
NM_002693.3(POLG):c.1586-5del
|
rs2307434
|
0.00891
|
NM_000391.4(TPP1):c.299A>G (p.Gln100Arg)
|
rs1800746
|
0.00889
|
NM_000466.3(PEX1):c.812A>G (p.Asn271Ser)
|
rs138183109
|
0.00874
|
NM_006005.3(WFS1):c.930A>G (p.Ala310=)
|
rs115561278
|
0.00845
|
NM_004560.4(ROR2):c.471G>A (p.Thr157=)
|
rs78781083
|
0.00812
|
NM_213599.3(ANO5):c.2387C>T (p.Ser796Leu)
|
rs61910685
|
0.00804
|
NM_170707.4(LMNA):c.51C>T (p.Ser17=)
|
rs11549668
|
0.00797
|
NM_032119.4(ADGRV1):c.7079G>A (p.Arg2360His)
|
rs111033470
|
0.00784
|
NM_001195263.2(PDZD7):c.1011C>T (p.Tyr337=)
|
rs34705415
|
0.00775
|
NM_001267550.2(TTN):c.49443A>C (p.Pro16481=)
|
rs74321406
|
0.00774
|
NM_001367624.2(ZNF469):c.10361G>A (p.Arg3454Gln)
|
rs75288466
|
0.00769
|
NM_015311.3(OBSL1):c.5202C>A (p.Asp1734Glu)
|
rs181520135
|
0.00757
|
NM_002335.4(LRP5):c.687-17C>T
|
rs186410639
|
0.00751
|
NM_198999.3(SLC26A5):c.-53-2A>G
|
rs116900495
|
0.00748
|
NM_000334.4(SCN4A):c.3441+7G>A
|
rs142270113
|
0.00738
|
NM_004999.4(MYO6):c.1120T>C (p.Tyr374His)
|
rs61732664
|
0.00738
|
NM_001267550.2(TTN):c.14984C>G (p.Pro4995Arg)
|
rs72648927
|
0.00729
|
NM_004525.3(LRP2):c.13545G>A (p.Gly4515=)
|
rs34029982
|
0.00725
|
NM_000426.4(LAMA2):c.1403C>G (p.Ala468Gly)
|
rs111695726
|
0.00720
|
NM_000070.3(CAPN3):c.319G>A (p.Glu107Lys)
|
rs1801505
|
0.00719
|
NM_032119.4(ADGRV1):c.13037C>T (p.Pro4346Leu)
|
rs74632023
|
0.00712
|
NM_004415.4(DSP):c.8300C>A (p.Thr2767Asn)
|
rs34884895
|
0.00701
|
NM_139319.3(SLC17A8):c.355-4C>A
|
rs11568531
|
0.00670
|
NM_017721.5(CC2D1A):c.980C>T (p.Ser327Leu)
|
rs200121704
|
0.00665
|
NM_000286.3(PEX12):c.867C>T (p.Asp289=)
|
rs138720627
|
0.00647
|
NM_020632.3(ATP6V0A4):c.816+19C>T
|
rs80076422
|
0.00643
|
NM_206933.4(USH2A):c.848+5G>C
|
rs74329863
|
0.00641
|
NM_001145026.2(PTPRQ):c.1233G>A (p.Thr411=)
|
rs185755490
|
0.00640
|
NM_000553.6(WRN):c.1953C>T (p.Gly651=)
|
rs11574263
|
0.00627
|
NM_000070.3(CAPN3):c.984C>T (p.Cys328=)
|
rs28364441
|
0.00600
|
NM_001048174.2(MUTYH):c.1347G>C (p.Thr449=)
|
rs74318065
|
0.00596
|
NM_001145026.2(PTPRQ):c.5061T>C (p.Pro1687=)
|
rs186848048
|
0.00581
|
NM_024753.5(TTC21B):c.2322+3A>G
|
rs79037278
|
0.00575
|
NM_001292063.2(OTOG):c.385+7C>T
|
rs139222878
|
0.00540
|
NM_002485.5(NBN):c.37+11A>G
|
rs115032431
|
0.00540
|
NM_001081.4(CUBN):c.4696-16G>T
|
rs140260072
|
0.00504
|
NM_001160372.4(TRAPPC9):c.7G>A (p.Val3Ile)
|
rs76033442
|
0.00489
|
NM_001267550.2(TTN):c.95035G>A (p.Asp31679Asn)
|
rs116567963
|
0.00481
|
NM_000092.5(COL4A4):c.1833T>C (p.Gly611=)
|
rs145806603
|
0.00479
|
NM_033028.5(BBS4):c.1106+20T>C
|
rs145968663
|
0.00461
|
NM_004525.3(LRP2):c.79+7G>A
|
rs376136995
|
0.00460
|
NM_052989.3(IFT122):c.2349C>A (p.Ile783=)
|
rs114357746
|
0.00442
|
NM_022773.4(LMF1):c.302G>C (p.Arg101Thr)
|
rs147688306
|
0.00422
|
NM_014425.5(INVS):c.1948G>C (p.Ala650Pro)
|
rs147452898
|
0.00394
|
NM_138395.4(MARS2):c.1580T>C (p.Val527Ala)
|
rs141544058
|
0.00387
|
NM_002473.6(MYH9):c.2229+13G>T
|
rs139146113
|
0.00377
|
NM_003896.4(ST3GAL5):c.37C>T (p.Pro13Ser)
|
rs559756386
|
0.00354
|
NM_206933.4(USH2A):c.14543G>A (p.Arg4848Gln)
|
rs77211159
|
0.00354
|
NM_001098484.3(SLC4A4):c.2436A>G (p.Lys812=)
|
rs34772799
|
0.00346
|
NM_206933.4(USH2A):c.15562A>G (p.Ser5188Gly)
|
rs58257972
|
0.00343
|
NM_000271.5(NPC1):c.2795+19T>C
|
rs200103695
|
0.00342
|
NM_052989.3(IFT122):c.1908T>C (p.Ile636=)
|
rs139722192
|
0.00334
|
NM_024301.5(FKRP):c.1020C>T (p.Tyr340=)
|
rs77351928
|
0.00330
|
NM_001199107.2(TBC1D24):c.1326C>T (p.Tyr442=)
|
rs184639841
|
0.00324
|
NM_032575.3(GLIS2):c.775+20C>T
|
rs116598071
|
0.00297
|
NM_025074.7(FRAS1):c.8832C>T (p.Ser2944=)
|
rs114854941
|
0.00296
|
NM_002485.5(NBN):c.381T>C (p.Ala127=)
|
rs61754795
|
0.00266
|
NM_000414.4(HSD17B4):c.2060C>T (p.Thr687Ile)
|
rs28943592
|
0.00265
|
NM_000141.5(FGFR2):c.17G>C (p.Arg6Pro)
|
rs3750819
|
0.00250
|
NM_006005.3(WFS1):c.577A>C (p.Lys193Gln)
|
rs41264699
|
0.00249
|
NM_004004.6(GJB2):c.457G>A (p.Val153Ile)
|
rs111033186
|
0.00247
|
NM_022168.4(IFIH1):c.2946C>T (p.Leu982=)
|
rs74162089
|
0.00240
|
NM_000441.2(SLC26A4):c.1545-5T>G
|
rs77944876
|
0.00234
|
NM_001145809.2(MYH14):c.1329+15C>T
|
rs200176028
|
0.00227
|
NM_022089.4(ATP13A2):c.1195+9C>T
|
rs117758987
|
0.00227
|
NM_025074.7(FRAS1):c.4969+9A>C
|
rs147019759
|
0.00213
|
NM_007254.4(PNKP):c.579G>A (p.Arg193=)
|
rs145904995
|
0.00205
|
NM_012448.4(STAT5B):c.375+17G>A
|
rs148509105
|
0.00198
|
NM_000441.2(SLC26A4):c.416-7T>C
|
rs111033387
|
0.00178
|
NM_207361.6(FREM2):c.4686T>C (p.Asp1562=)
|
rs17058435
|
0.00172
|
NM_006208.3(ENPP1):c.313+11_313+15del
|
rs771304080
|
0.00163
|
NM_030943.4(AMN):c.1137G>T (p.Ala379=)
|
rs533317064
|
0.00159
|
NM_001367624.2(ZNF469):c.8076G>A (p.Pro2692=)
|
rs149200506
|
0.00158
|
NM_138694.4(PKHD1):c.7942G>A (p.Gly2648Ser)
|
rs139555370
|
0.00158
|
NM_004525.3(LRP2):c.9147C>T (p.Phe3049=)
|
rs146115458
|
0.00154
|
NM_194248.3(OTOF):c.5026C>T (p.Arg1676Cys)
|
rs139767460
|
0.00144
|
NM_020247.5(COQ8A):c.238C>T (p.His80Tyr)
|
rs76249490
|
0.00140
|
NM_004004.6(GJB2):c.608T>C (p.Ile203Thr)
|
rs76838169
|
0.00129
|
NM_004525.3(LRP2):c.9033-9A>G
|
rs143892351
|
0.00119
|
NM_000162.5(GCK):c.364-18A>G
|
rs191255582
|
0.00118
|
NM_002473.6(MYH9):c.2913G>A (p.Ala971=)
|
rs200763055
|
0.00116
|
NM_003052.5(SLC34A1):c.260-4C>A
|
rs200580283
|
0.00109
|
NM_004525.3(LRP2):c.5395-12C>G
|
rs141206999
|
0.00108
|
NM_001102564.3(IFT43):c.54+15G>T
|
rs372505367
|
0.00105
|
NM_004560.4(ROR2):c.937+16C>T
|
rs112054737
|
0.00101
|
NM_025074.7(FRAS1):c.3010+14_3010+29del
|
rs112289727
|
0.00091
|
NM_000243.3(MEFV):c.37C>G (p.Leu13Val)
|
rs139448379
|
0.00090
|
NM_178335.3(CCDC50):c.883G>T (p.Asp295Tyr)
|
rs75123867
|
0.00089
|
NM_000123.4(ERCC5):c.640C>T (p.Arg214Cys)
|
rs56255799
|
0.00086
|
NM_002335.4(LRP5):c.2544G>A (p.Pro848=)
|
rs148271293
|
0.00083
|
NM_014425.5(INVS):c.1704G>A (p.Gly568=)
|
rs114645869
|
0.00073
|
NM_001267550.2(TTN):c.6041C>T (p.Thr2014Ile)
|
rs189149543
|
0.00070
|
NM_014956.5(CEP164):c.194+20G>A
|
rs184566454
|
0.00070
|
NM_014994.3(MAPKBP1):c.4030G>T (p.Gly1344Cys)
|
rs75437827
|
0.00065
|
NM_025132.4(WDR19):c.3416A>G (p.Gln1139Arg)
|
rs75621037
|
0.00065
|
NM_001267550.2(TTN):c.87877C>T (p.Arg29293Cys)
|
rs191482653
|
0.00057
|
NM_033056.4(PCDH15):c.5398G>A (p.Val1800Ile)
|
rs111033463
|
0.00056
|
NM_080680.3(COL11A2):c.4799G>A (p.Arg1600Gln)
|
rs1799912
|
0.00052
|
NM_001102564.3(IFT43):c.486G>A (p.Ala162=)
|
rs143729954
|
0.00049
|
NM_014797.3(ZBTB24):c.14C>T (p.Ser5Leu)
|
rs192918926
|
0.00037
|
NM_004525.3(LRP2):c.2511C>T (p.Ala837=)
|
rs375313914
|
0.00034
|
NM_030943.4(AMN):c.321T>C (p.Ser107=)
|
rs563004567
|
0.00034
|
NM_001366722.1(GRIP1):c.1199-7C>G
|
rs200313638
|
0.00029
|
NM_006014.5(LAGE3):c.362T>C (p.Ile121Thr)
|
rs146063259
|
0.00026
|
NM_018294.6(CWF19L1):c.940C>T (p.His314Tyr)
|
rs151250620
|
0.00024
|
NM_001102564.3(IFT43):c.55-17T>C
|
rs200685248
|
0.00006
|
NM_004415.4(DSP):c.4320G>A (p.Val1440=)
|
rs571103583
|
0.00006
|
NM_001267550.2(TTN):c.82692G>A (p.Ala27564=)
|
rs557628408
|
0.00004
|
NM_015272.5(RPGRIP1L):c.3395A>G (p.Gln1132Arg)
|
rs561414163
|
0.00004
|
NM_001267550.2(TTN):c.39085C>A (p.Pro13029Thr)
|
rs397517553
|
0.00002
|
NM_004415.4(DSP):c.6655G>A (p.Val2219Ile)
|
rs397516953
|
0.00002
|
NM_001267550.2(TTN):c.67637-9A>G
|
rs2047164551
|
0.00001
|
NM_000019.4(ACAT1):c.239-8del
|
rs201199156
|
|
NM_000208.4(INSR):c.653-23TC[9]
|
rs3835070
|
|
NM_000260.4(MYO7A):c.3503+12_3503+33del
|
rs111033223
|
|
NM_000271.5(NPC1):c.1947+10G>C
|
rs71534236
|
|
NM_000337.6(SGCD):c.699+13_699+15del
|
rs397517924
|
|
NM_000426.4(LAMA2):c.3296A>G (p.Asn1099Ser)
|
rs35065563
|
|
NM_000492.4(CFTR):c.*133del
|
rs145697705
|
|
NM_000492.4(CFTR):c.1210-34TG[12]
|
rs3832534
|
|
NM_000543.5(SMPD1):c.108GCTGGC[5] (p.38AL[5])
|
rs3838786
|
|
NM_001080449.3(DNA2):c.1057+19del
|
rs34922453
|
|
NM_001080449.3(DNA2):c.2697+13del
|
rs370068890
|
|
NM_001081.4(CUBN):c.5305G>A (p.Val1769Ile)
|
rs74116778
|
|
NM_001110219.3(GJB6):c.*227dup
|
rs368264636
|
|
NM_001127671.2(LIFR):c.143-37GT[16]
|
rs10637374
|
|
NM_001267550.2(TTN):c.12780G>A (p.Ala4260=)
|
rs746578
|
|
NM_001267550.2(TTN):c.12780G>T (p.Ala4260=)
|
rs746578
|
|
NM_001267550.2(TTN):c.82385C>A (p.Thr27462Lys)
|
rs55933739
|
|
NM_001366722.1(GRIP1):c.418+14C>A
|
rs79994510
|
|
NM_001371333.1(DIABLO):c.51-318dup
|
rs5801478
|
|
NM_001378454.1(ALMS1):c.12362+16_12362+27delinsTGAGTTTGTG
|
rs1064795877
|
|
NM_001378454.1(ALMS1):c.2535C>T (p.Asp845=)
|
rs77517267
|
|
NM_001614.5(ACTG1):c.-55G>A
|
rs7503278
|
|
NM_002160.4(TNC):c.6099C>T (p.Arg2033=)
|
rs58547879
|
|
NM_002292.4(LAMB2):c.261G>A (p.Lys87=)
|
rs149408554
|
|
NM_002292.4(LAMB2):c.4224+19G>A
|
rs114913744
|
|
NM_002470.4(MYH3):c.3138A>C (p.Arg1046=)
|
rs2285475
|
|
NM_004407.4(DMP1):c.844C>A (p.Leu282Ile)
|
rs141979823
|
|
NM_004525.3(LRP2):c.11498-13del
|
rs143342962
|
|
NM_004525.3(LRP2):c.13519-40CT[12]
|
rs138614485
|
|
NM_004525.3(LRP2):c.13519-40CT[13]
|
rs138614485
|
|
NM_004525.3(LRP2):c.428-11_428-8del
|
rs370823033
|
|
NM_004525.3(LRP2):c.428-9_428-8del
|
rs370823033
|
|
NM_004999.4(MYO6):c.1546+7_1546+8del
|
rs3831003
|
|
NM_005219.5(DIAPH1):c.3149-25dup
|
rs79558427
|
|
NM_005219.5(DIAPH1):c.3149-3del
|
rs79558427
|
|
NM_015278.5(SASH1):c.45CGAGCC[3] (p.12EP[7])
|
rs76317765
|
|
NM_016373.4(WWOX):c.535G>A (p.Ala179Thr)
|
rs11545029
|
|
NM_022124.6(CDH23):c.5418C>G (p.Asp1806Glu)
|
rs74145660
|
|
NM_024570.4(RNASEH2B):c.925dup (p.Ile309fs)
|
rs75254367
|
|
NM_024989.4(PGAP1):c.1273-17dup
|
rs3835877
|
|
NM_032193.4(RNASEH2C):c.*948dup
|
rs142614068
|
|
NM_033056.4(PCDH15):c.5598AAC[1] (p.Thr1869del)
|
rs113363047
|
|
NM_079420.3(MYL1):c.1dup (p.Met1fs)
|
rs544557603
|
|
NM_138694.4(PKHD1):c.1088G>A (p.Gly363Glu)
|
rs573293029
|
|
NM_153717.3(EVC):c.802-12_802-11del
|
rs372546602
|
|
NM_178170.3(NEK8):c.1732+8_1732+10del
|
rs3833163
|
|
NM_181741.4(ORC4):c.763-9del
|
rs66919703
|
|
NM_206933.4(USH2A):c.11602A>G (p.Met3868Val)
|
rs35309576
|
|
NM_207361.6(FREM2):c.7520-6_7520-5dup
|
rs36084034
|
|