ClinVar Miner

List of variants reported as benign by Eurofins NTD LLC (GA)

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7945
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000828.4(GRIA3):c.-2G= rs58044961 1.00000
NM_001042631.3(SDHAF1):c.269G>C (p.Cys90Ser) rs7249826 1.00000
NM_001845.6(COL4A1):c.1663= (p.Pro555=) rs536174 0.99999
NM_080680.3(COL11A2):c.1360-7A>C rs3129201 0.99999
NM_000208.4(INSR):c.5C>G (p.Ala2Gly) rs7508518 0.99996
NM_001367624.2(ZNF469):c.3153T>C (p.Ile1051=) rs9924504 0.99996
NM_207361.6(FREM2):c.2233= (p.Pro745=) rs2496423 0.99994
NM_001492.6(GDF1):c.326-14T>C rs4808864 0.99989
NM_001367624.2(ZNF469):c.10990= (p.Ala3664=) rs904783 0.99962
NM_000283.4(PDE6B):c.958G>A (p.Val320Ile) rs10902758 0.99926
NM_001042413.2(GLIS3):c.1270T>C (p.Ser424Pro) rs806052 0.99890
NM_020297.4(ABCC9):c.2199-11= rs697250 0.99814
NM_005751.5(AKAP9):c.8935C>T (p.Pro2979Ser) rs1063242 0.99690
NM_018136.5(ASPM):c.7480T>C (p.Tyr2494His) rs964201 0.99668
NM_020436.5(SALL4):c.540T>C (p.Asn180=) rs6013281 0.99661
NM_001367624.2(ZNF469):c.8627A>G (p.His2876Arg) rs1983014 0.99622
NM_001111.5(ADAR):c.298A>G (p.Arg100Gly) rs1466731 0.99604
NM_001267550.2(TTN):c.67246G>C (p.Ala22416Pro) rs4145333 0.99572
NM_031885.5(BBS2):c.209G>A (p.Ser70Asn) rs4784677 0.99534
NM_000090.4(COL3A1):c.4059T>G (p.His1353Gln) rs1516446 0.99509
NM_000263.4(NAGLU):c.423T>C (p.Ser141=) rs659497 0.99480
NM_031407.7(HUWE1):c.12177T>C (p.Gly4059=) rs426298 0.99420
NM_001363.5(DKC1):c.369G>T (p.Thr123=) rs2728532 0.99384
NM_003283.6(TNNT1):c.795= (p.Arg265=) rs890868 0.99361
NM_000387.6(SLC25A20):c.536-18T>C rs6414612 0.99352
NM_001368397.1(FRMPD4):c.1197+12C>G rs4469660 0.99321
NM_000112.4(SLC26A2):c.1721T>C (p.Ile574Thr) rs30832 0.99306
NM_145239.3(PRRT2):c.751T>C (p.Leu251=) rs11150573 0.99277
NM_001289104.2(PRKCSH):c.850-14T>C rs186375 0.99255
NM_005422.4(TECTA):c.5171G>A (p.Ser1724Asn) rs526433 0.99235
NM_201548.5(CERKL):c.1506C>T (p.Asp502=) rs10180793 0.99229
NM_153252.5(BRWD3):c.3863A>G (p.Lys1288Arg) rs3122407 0.99173
NM_024596.5(MCPH1):c.1175A>G (p.Asp392Gly) rs2515569 0.99154
NM_001458.5(FLNC):c.4404T>C (p.Asp1468=) rs2249128 0.99086
NM_152419.3(HGSNAT):c.1749T>C (p.Tyr583=) rs1126058 0.99080
NM_004304.5(ALK):c.4381A>G (p.Ile1461Val) rs1670283 0.99030
NM_001369268.1(ACAN):c.1809T>C (p.Ala603=) rs1568116 0.98973
NM_005045.4(RELN):c.8843+7G>C rs2711885 0.98938
NM_004260.4(RECQL4):c.3127T>C (p.Leu1043=) rs4925828 0.98841
NM_004977.3(KCNC3):c.188A>G (p.Asp63Gly) rs375912738 0.98789
NM_006946.4(SPTBN2):c.2473A>G (p.Ser825Gly) rs4930388 0.98751
NM_000350.3(ABCA4):c.141A>G (p.Pro47=) rs4847281 0.98746
NM_017950.4(CCDC40):c.207G>C (p.Val69=) rs2289527 0.98631
NM_003923.3(FOXH1):c.*20A>G rs2721176 0.98630
NM_000318.3(PEX2):c.550T>C (p.Cys184Arg) rs10087163 0.98578
NM_198859.4(PRICKLE2):c.816T>C (p.Asp272=) rs27673 0.98545
NM_006790.3(MYOT):c.220= (p.Gln74=) rs6890689 0.98540
NM_004260.4(RECQL4):c.274T>C (p.Ser92Pro) rs2721190 0.98532
NM_000144.5(FXN):c.54A>G (p.Pro18=) rs2481598 0.98511
NM_000399.5(EGR2):c.627= (p.Pro209=) rs224083 0.98414
NM_006907.4(PYCR1):c.903A>G (p.Ser301=) rs61747618 0.98394
NM_001035.3(RYR2):c.10935+18C>T rs2797445 0.98361
NM_000843.4(GRM6):c.1308T>C (p.Thr436=) rs4701014 0.98353
NM_001267550.2(TTN):c.23223G>A (p.Gln7741=) rs2562831 0.98238
NM_001267550.2(TTN):c.14610C>T (p.Ser4870=) rs2742348 0.98231
NM_001201543.2(FAM161A):c.1212T>C (p.Cys404=) rs4672457 0.98181
NM_001201543.2(FAM161A):c.165T>G (p.Ala55=) rs4270331 0.98177
NM_022489.4(INF2):c.105C>T (p.Pro35=) rs4983530 0.98049
NM_000059.4(BRCA2):c.4563A>G (p.Leu1521=) rs206075 0.97986
NM_032575.3(GLIS2):c.864T>C (p.Tyr288=) rs669561 0.97986
NM_024577.4(SH3TC2):c.1587T>G (p.Arg529=) rs1432794 0.97933
NM_018249.6(CDK5RAP2):c.-3G>T rs932975 0.97921
NM_000059.4(BRCA2):c.7397T>C (p.Val2466Ala) rs169547 0.97902
NM_006662.3(SRCAP):c.4218C>A (p.Ser1406=) rs4889502 0.97867
NM_000070.3(CAPN3):c.*134C>T rs3098423 0.97772
NM_020549.5(CHAT):c.-10T>G rs7923716 0.97663
NM_006019.4(TCIRG1):c.1245G>C (p.Leu415=) rs2471829 0.97643
NM_001370259.2(MEN1):c.1299T>C (p.His433=) rs540012 0.97595
NM_014989.7(RIMS1):c.1083A>G (p.Leu361=) rs2463730 0.97497
NM_018979.4(WNK1):c.258T>C (p.Cys86=) rs3168640 0.97485
NM_000388.4(CASR):c.2244G>C (p.Pro748=) rs2036400 0.97432
NM_001267550.2(TTN):c.9879A>G (p.Glu3293=) rs4894043 0.97302
NM_000088.4(COL1A1):c.3223= (p.Ala1075=) rs1800215 0.97286
NM_000521.4(HEXB):c.185T>C (p.Leu62Ser) rs820878 0.97243
NM_000168.6(GLI3):c.1356+11G>C rs846273 0.97240
NM_025074.7(FRAS1):c.7132A>G (p.Lys2378Glu) rs7684722 0.97162
NM_032119.4(ADGRV1):c.16279G>A (p.Val5427Met) rs2438378 0.97114
NM_000451.4(SHOX):c.277+17T>G rs2239402 0.97040
NM_006214.4(PHYH):c.153C>T (p.Asn51=) rs1747682 0.96869
NM_020779.4(WDR35):c.2824-14G>T rs1191779 0.96807
NM_194318.4(B3GLCT):c.348T>C (p.His116=) rs4943266 0.96681
NM_001429.4(EP300):c.2053+8G>T rs6002267 0.96326
NM_002225.5(IVD):c.550+57A>G rs4924466 0.96250
NM_138694.4(PKHD1):c.1185T>C (p.Asp395=) rs1896976 0.96234
NM_012213.3(MLYCD):c.528+19T>C rs446036 0.96188
NM_018249.6(CDK5RAP2):c.-19T>C rs932974 0.96160
NM_001035.3(RYR2):c.6906T>C (p.Leu2302=) rs707189 0.96110
NM_001035.3(RYR2):c.10776C>T (p.Ser3592=) rs2685301 0.95962
NM_001035.3(RYR2):c.10503C>T (p.Thr3501=) rs2797441 0.95950
NM_033028.5(BBS4):c.906T>C (p.Phe302=) rs12914333 0.95849
NM_138694.4(PKHD1):c.5608T>G (p.Leu1870Val) rs2435322 0.95778
NM_000153.4(GALC):c.1698A>T (p.Val566=) rs421466 0.95773
NM_153717.3(EVC):c.769C>T (p.Leu257=) rs6446393 0.95639
NM_000153.4(GALC):c.1620A>G (p.Thr540=) rs367327 0.95611
NM_000153.4(GALC):c.1834+5C>G rs448805 0.95475
NM_002025.4(AFF2):c.3404+7A>G rs5980615 0.95464
NM_000153.4(GALC):c.1921A>G (p.Thr641Ala) rs421262 0.95462
NM_015386.3(COG4):c.485C>T (p.Thr162Ile) rs3931036 0.95397
NM_003000.3(SDHB):c.18C>A (p.Ala6=) rs2746462 0.95374
NM_001173467.3(SP7):c.1128T>C (p.His376=) rs7138938 0.95333
NM_000702.4(ATP1A2):c.381+16C>T rs2820581 0.95274
NM_000426.4(LAMA2):c.381C>A (p.Thr127=) rs4404787 0.95273
NM_004006.3(DMD):c.8810G>A (p.Arg2937Gln) rs1800280 0.95243
NM_016180.5(SLC45A2):c.987A>G (p.Thr329=) rs2287949 0.95123
NM_017739.4(POMGNT1):c.1867A>G (p.Met623Val) rs6659553 0.94881
NM_001377.3(DYNC2H1):c.5718C>A (p.Thr1906=) rs585692 0.94841
NM_005104.4(BRD2):c.1330-4G>C rs3097644 0.94820
NM_001267550.2(TTN):c.3884C>T (p.Ser1295Leu) rs1552280 0.94745
NM_001349338.3(FOXP1):c.1889+20C>A rs7638391 0.94569
NM_004795.4(KL):c.273T>C (p.Asp91=) rs2772364 0.94529
NM_001876.4(CPT1A):c.556-16C>T rs3019603 0.94412
NM_033028.5(BBS4):c.76+19G>T rs4777527 0.94399
NM_053025.4(MYLK):c.3402C>T (p.Asn1134=) rs865358 0.94358
NM_001267550.2(TTN):c.4480+6C>T rs719201 0.94227
NM_005413.4(SIX3):c.942A>G (p.Ala314=) rs338074 0.93956
NM_000327.4(ROM1):c.353G>C (p.Gly118Ala) rs1799959 0.93846
NM_032119.4(ADGRV1):c.16031A>G (p.Glu5344Gly) rs2438374 0.93517
NM_005027.4(PIK3R2):c.700A>C (p.Ser234Arg) rs2241088 0.93443
NM_006514.4(SCN10A):c.4866T>C (p.Ser1622=) rs6599242 0.93283
NM_000404.4(GLB1):c.1561T>C (p.Cys521Arg) rs4302331 0.93112
NM_002546.4(TNFRSF11B):c.401-5T>C rs3134046 0.93049
NM_000466.3(PEX1):c.2331C>A (p.Gly777=) rs10278857 0.93013
NM_174912.4(FAAH2):c.1229-14A>T rs1821118 0.92912
NM_000322.5(PRPH2):c.929G>A (p.Arg310Lys) rs425876 0.92861
NM_000027.4(AGA):c.446C>G (p.Thr149Ser) rs2228119 0.92759
NM_000191.3(HMGCL):c.654A>G (p.Leu218=) rs719400 0.92712
NM_201253.3(CRB1):c.1410A>G (p.Leu470=) rs3902057 0.92528
NM_000282.4(PCCA):c.914+19A>G rs4306370 0.92464
NM_000478.6(ALPL):c.330T>C (p.Ser110=) rs1780316 0.92311
NM_000443.4(ABCB4):c.2211+16C>T rs31668 0.92183
NM_016032.4(ZDHHC9):c.487+15A>G rs2275605 0.92100
NM_001876.4(CPT1A):c.1251T>C (p.Phe417=) rs2228502 0.92020
NM_031433.4(MFRP):c.540T>C (p.His180=) rs2510143 0.91859
NM_006363.6(SEC23B):c.1233+9A>G rs6081189 0.91788
NM_000388.4(CASR):c.3031G>C (p.Glu1011Gln) rs1801726 0.91749
NM_001130987.2(DYSF):c.5885-16T>C rs1863812 0.91575
NM_001853.4(COL9A3):c.1603+14G>C rs910152 0.91538
NM_001235.5(SERPINH1):c.234A>G (p.Leu78=) rs584961 0.91533
NM_018714.3(COG1):c.2383-17T>C rs3829571 0.91491
NM_000334.4(SCN4A):c.1570A>G (p.Ser524Gly) rs6504191 0.91477
NM_001123385.2(BCOR):c.1260T>C (p.Asp420=) rs5917933 0.91469
NM_000388.4(CASR):c.492+19G>A rs9869985 0.91296
NM_174936.4(PCSK9):c.207+15A>G rs2495482 0.91171
NM_000023.4(SGCA):c.*6T>C rs2696288 0.91073
NM_001080414.4(CCDC88C):c.5975T>C (p.Leu1992Pro) rs941920 0.90936
NM_198525.3(KIF7):c.1102A>G (p.Thr368Ala) rs8037349 0.90740
NM_001360.3(DHCR7):c.438T>C (p.Asn146=) rs949177 0.90629
NM_000540.3(RYR1):c.1077T>C (p.Ala359=) rs10406027 0.90489
NM_001360.3(DHCR7):c.207T>C (p.Thr69=) rs1790334 0.90380
NM_004817.4(TJP2):c.239+19T>C rs2498417 0.90366
NM_001173467.3(SP7):c.1098C>T (p.Ser366=) rs7139272 0.90326
NM_005957.5(MTHFR):c.1305C>T (p.Phe435=) rs4846051 0.90165
NM_005751.5(AKAP9):c.3075C>T (p.Thr1025=) rs1989779 0.90157
NM_001927.4(DES):c.75A>G (p.Pro25=) rs1318299 0.89847
NM_015192.4(PLCB1):c.3188+8C>T rs2327089 0.89617
NM_207346.3(TSEN54):c.1122G>C (p.Arg374=) rs6501820 0.89534
NM_001848.3(COL6A1):c.1525-60A>G rs3737437 0.89527
NM_001370259.2(MEN1):c.1621A>G (p.Thr541Ala) rs2959656 0.89377
NM_001367624.2(ZNF469):c.3522G>A (p.Pro1174=) rs9938800 0.89252
NM_020166.5(MCCC1):c.396C>T (p.Leu132=) rs7622479 0.89165
NM_002739.5(PRKCG):c.72C>T (p.Ala24=) rs2547362 0.89099
NM_003322.6(TULP1):c.200C>G (p.Thr67Arg) rs7764472 0.88862
NM_053025.4(MYLK):c.439C>T (p.Pro147Ser) rs9840993 0.88650
NM_001184.4(ATR):c.7875G>A (p.Gln2625=) rs1802904 0.88595
NM_001177316.2(SLC34A3):c.1538A>T (p.Glu513Val) rs28542318 0.88574
NM_000404.4(GLB1):c.34T>C (p.Leu12=) rs7614776 0.88431
NM_001848.3(COL6A1):c.1822+88A>G rs7276782 0.88358
NM_130837.3(OPA1):c.1035+4T>C rs166850 0.88294
NM_001077365.2(POMT1):c.876T>C (p.Thr292=) rs10901065 0.88277
NM_001077365.2(POMT1):c.1047T>C (p.Asp349=) rs3739494 0.88273
NM_001077365.2(POMT1):c.*226T>C rs3824395 0.88255
NM_005477.3(HCN4):c.3600A>G (p.Pro1200=) rs529004 0.88237
NM_001848.3(COL6A1):c.1335+27A>C rs2850173 0.88231
NM_001927.4(DES):c.93T>C (p.Ser31=) rs2017800 0.88201
NM_000520.6(HEXA):c.1306A>G (p.Ile436Val) rs1800431 0.87890
NM_000520.6(HEXA):c.1518A>G (p.Glu506=) rs4777502 0.87885
NM_014208.3(DSPP):c.*17G>A rs2615489 0.87779
NM_001267550.2(TTN):c.10256G>A (p.Ser3419Asn) rs2291310 0.87769
NM_025114.4(CEP290):c.853-12_853-11insG rs71082425 0.87640
NM_001848.3(COL6A1):c.2434+15A>G rs2236485 0.87616
NM_006031.6(PCNT):c.3113T>C (p.Val1038Ala) rs6518289 0.87478
NM_006031.6(PCNT):c.2928C>G (p.Leu976=) rs2839228 0.87375
NM_005902.4(SMAD3):c.309A>G (p.Leu103=) rs1065080 0.87365
NM_001267550.2(TTN):c.9781G>A (p.Val3261Met) rs2291311 0.87338
NM_001367624.2(ZNF469):c.4343C>T (p.Pro1448Leu) rs4782300 0.87223
NM_001918.5(DBT):c.1150A>G (p.Ser384Gly) rs12021720 0.87100
NM_001848.3(COL6A1):c.428+14A>G rs3746993 0.87078
NM_007214.5(SEC63):c.564C>T (p.Asn188=) rs675117 0.87051
NM_001848.3(COL6A1):c.859-19A>G rs2277814 0.86865
NM_000096.4(CP):c.1632A>T (p.Glu544Asp) rs701753 0.86852
NM_005327.7(HADH):c.257T>C (p.Leu86Pro) rs4956145 0.86661
NM_000466.3(PEX1):c.358-15G>A rs38809 0.86650
NM_000744.7(CHRNA4):c.1227T>C (p.Cys409=) rs2229960 0.86626
NM_002098.6(GUCA1B):c.-17T>C rs1474867 0.86573
NM_000535.7(PMS2):c.1621A>G (p.Lys541Glu) rs2228006 0.86482
NM_001849.4(COL6A2):c.1671+10A>G rs915786 0.86241
NM_024079.4(ALG8):c.*20A>G rs1263505 0.86211
NM_153747.2(PIGC):c.267T>C (p.Gly89=) rs2230471 0.85989
NM_002181.4(IHH):c.1128T>C (p.Thr376=) rs394452 0.85910
NM_001360.3(DHCR7):c.1158T>C (p.Asp386=) rs760241 0.85831
NM_001367624.2(ZNF469):c.4419T>G (p.Ser1473=) rs12445417 0.85761
NM_021098.3(CACNA1H):c.6417T>C (p.Asp2139=) rs4247094 0.85388
NM_198525.3(KIF7):c.2658A>C (p.Ala886=) rs3803531 0.85312
NM_021098.3(CACNA1H):c.3957T>C (p.Asp1319=) rs8063574 0.85136
NM_000203.5(IDUA):c.99T>G (p.His33Gln) rs10794537 0.85085
NM_181458.4(PAX3):c.129T>C (p.Gly43=) rs12623857 0.84982
NM_001035.3(RYR2):c.2973A>G (p.Ser991=) rs2253273 0.84980
NM_000277.3(PAH):c.1155C>G (p.Leu385=) rs772897 0.84953
NM_022455.5(NSD1):c.6829T>C (p.Leu2277=) rs28580074 0.84910
NM_015102.5(NPHP4):c.2818-2= rs1217117155 0.84829
NM_004937.3(CTNS):c.779C>T (p.Thr260Ile) rs161400 0.84806
NM_003322.6(TULP1):c.783G>C (p.Lys261Asn) rs2064318 0.84569
NM_001122769.3(LCA5):c.71T>C (p.Leu24Ser) rs2655655 0.84544
NM_001845.6(COL4A1):c.616-11G>C rs645114 0.84459
NM_001367624.2(ZNF469):c.1098A>C (p.Arg366Ser) rs11640794 0.84448
NM_004006.3(DMD):c.9649+15T>C rs2293668 0.84201
NM_001077365.2(POMT1):c.2003+13C>T rs4740165 0.84044
NM_001173990.3(TMEM216):c.432-11_432-10insA rs11382548 0.83974
NM_144508.5(KNL1):c.259A>G (p.Thr87Ala) rs12911738 0.83758
NM_000231.3(SGCG):c.860A>G (p.Asn287Ser) rs1800354 0.83747
NM_015922.3(NSDHL):c.132T>G (p.Gly44=) rs5969919 0.83345
NM_020754.4(ARHGAP31):c.2407G>A (p.Gly803Ser) rs3732413 0.83326
NM_213599.3(ANO5):c.267T>C (p.Asp89=) rs4312063 0.83210
NM_213599.3(ANO5):c.-136G>C rs12792259 0.83191
NM_021101.5(CLDN1):c.369T>C (p.Gly123=) rs9869263 0.83180
NM_001364905.1(LRBA):c.4569+9C>T rs186080 0.83135
NM_013382.7(POMT2):c.1383G>A (p.Arg461=) rs2270419 0.82874
NM_007373.4(SHOC2):c.1161+42T>C rs1980869 0.82744
NM_000518.5(HBB):c.9T>C (p.His3=) rs713040 0.82706
NM_022132.5(MCCC2):c.1368A>G (p.Ala456=) rs10064079 0.82429
NM_020549.5(CHAT):c.1641T>C (p.His547=) rs8178992 0.82309
NM_001849.4(COL6A2):c.1332+26A>G rs3737362 0.82158
NM_013382.7(POMT2):c.1911T>G (p.Leu637=) rs3209079 0.82113
NM_000038.6(APC):c.5465T>A (p.Val1822Asp) rs459552 0.82099
NM_000535.7(PMS2):c.780C>G (p.Ser260=) rs1805319 0.82058
NM_152594.3(SPRED1):c.291G>A (p.Lys97=) rs7182445 0.82029
NM_003282.4(TNNI2):c.60T>C (p.Ser20=) rs907610 0.82025
NM_152594.3(SPRED1):c.424-8C>A rs7180446 0.82015
NM_000274.4(OAT):c.648+14A>G rs9422807 0.81973
NM_152594.3(SPRED1):c.1044T>C (p.Val348=) rs3751526 0.81965
NM_001195263.2(PDZD7):c.2319T>C (p.Arg773=) rs807022 0.81877
NM_005989.4(AKR1D1):c.*5A>C rs1872929 0.81870
NM_004187.5(KDM5C):c.2243+11G>T rs1977364 0.81756
NM_018297.4(NGLY1):c.1260+7T>G rs6550987 0.81668
NM_004369.4(COL6A3):c.9034G>C (p.Ala3012Pro) rs2270669 0.81638
NM_001195263.2(PDZD7):c.2564A>C (p.Asn855Thr) rs807023 0.81454
NM_004473.4(FOXE1):c.387T>C (p.Leu129=) rs3021523 0.81281
NM_000089.4(COL1A2):c.937-3C>T rs42519 0.81243
NM_001330260.2(SCN8A):c.576C>T (p.Asp192=) rs4761829 0.81114
NM_001164508.2(NEB):c.3901T>C (p.Tyr1301His) rs6711382 0.81103
NM_001849.4(COL6A2):c.1771-25A>G rs2839113 0.81072
NM_015311.3(OBSL1):c.921T>C (p.Leu307=) rs10180675 0.80936
NM_182961.4(SYNE1):c.13786T>A (p.Ser4596Thr) rs6911096 0.80856
NM_001008212.2(OPTN):c.553-5C>T rs2244380 0.80823
NM_182914.3(SYNE2):c.6481C>T (p.Leu2161=) rs10151127 0.80823
NM_018451.5(CENPJ):c.3216+7A>G rs9318917 0.80822
NM_000744.7(CHRNA4):c.678T>C (p.Cys226=) rs1044394 0.80763
NM_182961.4(SYNE1):c.12362A>G (p.Lys4121Arg) rs9479297 0.80638
NM_000335.5(SCN5A):c.87A>G (p.Ala29=) rs6599230 0.80621
NM_003701.4(TNFSF11):c.387+14G>A rs2277439 0.80621
NM_006912.6(RIT1):c.430-7C>T rs1749409 0.80479
NM_004360.5(CDH1):c.48+6C>T rs3743674 0.80384
NM_003863.4(DPM2):c.213T>C (p.Tyr71=) rs6781 0.80380
NM_001034850.3(RETREG1):c.-19T>C rs35003 0.80227
NM_018136.5(ASPM):c.7566A>G (p.Leu2522=) rs1412640 0.80210
NM_006005.3(WFS1):c.997G>A (p.Val333Ile) rs1801212 0.80149
NM_001367624.2(ZNF469):c.3568A>G (p.Lys1190Glu) rs7197071 0.80067
NM_000152.5(GAA):c.2331+20G>A rs2304832 0.80041
NM_022124.6(CDH23):c.4051A>G (p.Asn1351Asp) rs1227065 0.79969
NM_001252024.2(TRPM1):c.161G>A (p.Ser54Asn) rs2241493 0.79957
NM_001199397.3(NEK1):c.2765-20G>A rs7680152 0.79844
NM_000501.4(ELN):c.1315+17C>T rs2856728 0.79828
NM_020921.4(NIN):c.3374A>C (p.Gln1125Pro) rs12882191 0.79682
NM_020975.6(RET):c.2307G>T (p.Leu769=) rs1800861 0.79547
NM_020975.6(RET):c.135A>G (p.Ala45=) rs1800858 0.79274
NM_016239.4(MYO15A):c.5929T>C (p.Cys1977Arg) rs854777 0.79149
NM_025074.7(FRAS1):c.1947T>C (p.His649=) rs345514 0.79008
NM_020451.3(SELENON):c.425G>A (p.Cys142Tyr) rs7349185 0.78899
NM_000350.3(ABCA4):c.6069T>C (p.Ile2023=) rs1762114 0.78856
NM_003477.3(PDHX):c.63C>T (p.Pro21=) rs2956109 0.78720
NM_080680.3(COL11A2):c.2700T>C (p.Asp900=) rs2229785 0.78559
NM_000744.7(CHRNA4):c.639T>C (p.Asp213=) rs1044393 0.78554
NM_000322.5(PRPH2):c.910C>G (p.Gln304Glu) rs390659 0.78498
NM_020921.4(NIN):c.3959G>A (p.Gly1320Glu) rs2073347 0.78250
NM_182943.3(PLOD2):c.338+4G>A rs4681297 0.77857
NM_001297.5(CNGB1):c.2635-10C>T rs437920 0.77649
NM_054012.4(ASS1):c.597+18A>G rs652313 0.77461
NM_023036.6(DNAI2):c.1672G>A (p.Ala558Thr) rs1979370 0.77449
NM_000322.5(PRPH2):c.1013A>G (p.Asp338Gly) rs434102 0.77412
NM_018136.5(ASPM):c.10331+8A>G rs10754213 0.77181
NM_001142800.2(EYS):c.4256T>C (p.Leu1419Ser) rs624851 0.77065
NM_000487.6(ARSA):c.1210+20C>G rs762674 0.76867
NM_001292063.2(OTOG):c.4087G>C (p.Ala1363Pro) rs7934079 0.76845
NM_032119.4(ADGRV1):c.10411G>A (p.Glu3471Lys) rs2366928 0.76700
NM_015046.7(SETX):c.3576T>G (p.Asp1192Glu) rs1185193 0.76694
NM_000070.3(CAPN3):c.1537-48T>C rs2241827 0.76381
NM_006329.4(FBLN5):c.945T>C (p.Ile315=) rs2430347 0.76291
NM_032119.4(ADGRV1):c.2367+8C>T rs2366773 0.76285
NM_015404.4(WHRN):c.1353T>C (p.Gly451=) rs4979387 0.76260
NM_000642.3(AGL):c.894C>T (p.Leu298=) rs2230306 0.76251
NM_002180.3(IGHMBP2):c.57T>C (p.Leu19=) rs1249463 0.76080
NM_004281.4(BAG3):c.1296A>G (p.Val432=) rs196295 0.75935
NM_001844.5(COL2A1):c.25A>T (p.Thr9Ser) rs3803183 0.75794
NM_015046.7(SETX):c.1077T>C (p.Tyr359=) rs9411449 0.75774
NM_001844.5(COL2A1):c.85+18C>G rs3803184 0.75547
NM_021957.4(GYS2):c.1229+11G>A rs1871137 0.75356
NM_013339.4(ALG6):c.911C>T (p.Ser304Phe) rs4630153 0.75355
NM_001083961.2(WDR62):c.4170A>C (p.Leu1390Phe) rs1008328 0.75234
NM_001038.6(SCNN1A):c.1987A>G (p.Thr663Ala) rs2228576 0.75229
NM_000217.3(KCNA1):c.1440T>A (p.Thr480=) rs4766309 0.75219
NM_206933.4(USH2A):c.12612A>G (p.Thr4204=) rs2797235 0.74921
NM_000263.4(NAGLU):c.531+50G>C rs2071046 0.74899
NM_018136.5(ASPM):c.441+14C>T rs1571964 0.74895
NM_018136.5(ASPM):c.849C>T (p.Ser283=) rs6677082 0.74886
NM_030662.4(MAP2K2):c.919+12A>G rs350911 0.74641
NM_001286445.3(RIPOR2):c.2811T>C (p.Ser937=) rs9358804 0.74640
NM_001385875.1(ZFYVE27):c.413G>T (p.Gly138Val) rs10882993 0.74523
NM_000843.4(GRM6):c.1131C>T (p.Asp377=) rs2071246 0.74455
NM_020975.6(RET):c.1296A>G (p.Ala432=) rs1800860 0.74268
NM_032119.4(ADGRV1):c.3279G>T (p.Leu1093Phe) rs2366777 0.74245
NM_001849.4(COL6A2):c.1196G>A (p.Ser399Asn) rs2839110 0.74122
NM_004320.6(ATP2A1):c.*64G>A rs10499 0.74014
NM_000271.5(NPC1):c.1926G>C (p.Met642Ile) rs1788799 0.73957
NM_020451.3(SELENON):c.1173T>C (p.Pro391=) rs760597 0.73933
NM_001165963.4(SCN1A):c.2292T>C (p.Val764=) rs6432860 0.73885
NM_005422.4(TECTA):c.2805T>C (p.Tyr935=) rs586473 0.73877
NM_001165963.4(SCN1A):c.3199G>A (p.Ala1067Thr) rs2298771 0.73872
NM_000405.5(GM2A):c.205A>G (p.Met69Val) rs153478 0.73795
NM_001199799.2(ILDR1):c.1545T>G (p.Leu515=) rs2877561 0.73781
NM_032119.4(ADGRV1):c.5851G>A (p.Val1951Ile) rs4916684 0.73682
NM_080680.3(COL11A2):c.3313-11C>T rs2855437 0.73560
NM_173630.4(RTTN):c.376T>G (p.Ser126Ala) rs3911730 0.73528
NM_000429.3(MAT1A):c.870A>G (p.Val290=) rs10788546 0.73313
NM_000429.3(MAT1A):c.882T>C (p.Ala294=) rs10887711 0.73311
NM_138694.4(PKHD1):c.8798-19A>C rs1326605 0.73187
NM_004560.4(ROR2):c.*16G>A rs2230578 0.73170
NM_206933.4(USH2A):c.373G>A (p.Ala125Thr) rs10779261 0.73169
NM_003850.3(SUCLA2):c.371+9C>T rs6561424 0.73019
NM_001200.4(BMP2):c.570A>T (p.Arg190Ser) rs235768 0.72782
NM_022336.4(EDAR):c.1056C>T (p.Cys352=) rs12623957 0.72397
NM_153717.3(EVC):c.772T>C (p.Tyr258His) rs6414624 0.72068
NM_000525.4(KCNJ11):c.67A>G (p.Lys23Glu) rs5219 0.72048
NM_020822.3(KCNT1):c.1769+16A>G rs10776844 0.72033
NM_000152.5(GAA):c.2040+20A>G rs2304836 0.72004
NM_000240.4(MAOA):c.891G>T (p.Arg297=) rs6323 0.71997
NM_000152.5(GAA):c.324T>C (p.Cys108=) rs1800300 0.71989
NM_000352.6(ABCC8):c.4105G>T (p.Ala1369Ser) rs757110 0.71935
NM_000152.5(GAA):c.2338G>A (p.Val780Ile) rs1126690 0.71839
NM_000152.5(GAA):c.1327-18A>G rs2278619 0.71811
NM_178138.6(LHX3):c.79+2007T>C rs2274115 0.71807
NM_000275.3(OCA2):c.1183-4A>G rs10852218 0.71746
NM_006005.3(WFS1):c.*47T>C rs1046317 0.71708
NM_018475.5(TMEM165):c.18A>G (p.Pro6=) rs1128141 0.71708
NM_004560.4(ROR2):c.2455G>A (p.Val819Ile) rs10761129 0.71630
NM_001384140.1(PCDH15):c.706-8C>T rs10740579 0.71606
NM_000179.3(MSH6):c.3557-144G>A rs7562367 0.71536
NM_004836.7(EIF2AK3):c.497A>G (p.Gln166Arg) rs13045 0.71334
NM_000214.3(JAG1):c.3417T>C (p.Tyr1139=) rs1051419 0.71278
NM_001130987.2(DYSF):c.1881T>C (p.Asp627=) rs2303596 0.71202
NM_003019.5(SFTPD):c.538A>G (p.Thr180Ala) rs2243639 0.71180
NM_012463.4(ATP6V0A2):c.1515T>C (p.Asn505=) rs7135542 0.71178
NM_001200.4(BMP2):c.261A>G (p.Ser87=) rs1049007 0.70846
NM_002076.4(GNS):c.198G>A (p.Pro66=) rs1147096 0.70681
NM_025136.4(OPA3):c.231T>C (p.Ala77=) rs3826860 0.70508
NM_006005.3(WFS1):c.2565A>G (p.Ser855=) rs1046316 0.70506
NM_005529.7(HSPG2):c.4508C>T (p.Ala1503Val) rs897471 0.70428
NM_018139.3(DNAAF2):c.1185G>C (p.Ala395=) rs2985686 0.70412
NM_000033.4(ABCD1):c.*8G>C rs2229539 0.70012
NM_001267550.2(TTN):c.3601A>G (p.Lys1201Glu) rs10497520 0.69988
NM_001848.3(COL6A1):c.588+13C>A rs754507 0.69697
NM_001010892.3(RSPH4A):c.1766T>C (p.Leu589Pro) rs784133 0.69639
NM_004006.3(DMD):c.2645A>G (p.Asp882Gly) rs228406 0.69509
NM_001130987.2(DYSF):c.2637A>T (p.Ser879=) rs2288355 0.69367
NM_003361.4(UMOD):c.522C>T (p.Cys174=) rs7193058 0.69325
NM_001164508.2(NEB):c.3081A>T (p.Lys1027Asn) rs6735208 0.69255
NM_006013.5(RPL10):c.605= (p.Ser202=) rs4909 0.69154
NM_000435.3(NOTCH3):c.6668C>T (p.Ala2223Val) rs1044009 0.69087
NM_002615.7(SERPINF1):c.215C>T (p.Thr72Met) rs1136287 0.69033
NM_006941.4(SOX10):c.927T>C (p.His309=) rs139884 0.68861
NM_000101.4(CYBA):c.521T>C (p.Val174Ala) rs1049254 0.68722
NM_004415.4(DSP):c.8472G>C (p.Gly2824=) rs2744380 0.68624
NM_004369.4(COL6A3):c.8780T>C (p.Met2927Thr) rs6728818 0.68552
NM_015046.7(SETX):c.3754G>A (p.Gly1252Arg) rs1183768 0.68476
NM_006005.3(WFS1):c.684C>G (p.Arg228=) rs1801213 0.68223
NM_032638.5(GATA2):c.15C>G (p.Pro5=) rs1573858 0.68160
NM_015046.7(SETX):c.4156A>G (p.Ile1386Val) rs543573 0.68049
NM_001164508.2(NEB):c.771T>C (p.Ala257=) rs4611637 0.68008
NM_006796.3(AFG3L2):c.1389G>A (p.Leu463=) rs11080572 0.67857
NM_001083961.2(WDR62):c.3929A>T (p.Gln1310Leu) rs2074435 0.67813
NM_206933.4(USH2A):c.6317T>C (p.Ile2106Thr) rs6657250 0.67783
NM_004385.5(VCAN):c.4323G>A (p.Gln1441=) rs2548541 0.67722
NM_006796.3(AFG3L2):c.752+6C>T rs8097342 0.67671
NM_173495.3(PTCHD1):c.858T>C (p.Cys286=) rs5926304 0.67668
NM_016180.5(SLC45A2):c.1122G>C (p.Leu374Phe) rs16891982 0.67617
NM_006031.6(PCNT):c.8375A>G (p.Gln2792Arg) rs2073376 0.67500
NM_006031.6(PCNT):c.7914-16C>T rs2839257 0.67468
NM_025074.7(FRAS1):c.6468C>T (p.His2156=) rs753752 0.67410
NM_001127222.2(CACNA1A):c.6657T>C (p.His2219=) rs16051 0.67380
NM_001142800.2(EYS):c.2555T>C (p.Leu852Pro) rs9294631 0.67363
NM_170682.4(P2RX2):c.468T>C (p.Thr156=) rs7964634 0.67274
NM_006031.6(PCNT):c.720+17T>C rs9982233 0.67221
NM_033100.4(CDHR1):c.*4A>G rs3814212 0.67129
NM_153717.3(EVC):c.939+10A>G rs2286342 0.67122
NM_004453.4(ETFDH):c.92C>T (p.Thr31Ile) rs11559290 0.67086
NM_001035.3(RYR2):c.13783-6A>G rs790901 0.66919
NM_001377.3(DYNC2H1):c.4238A>G (p.Lys1413Arg) rs688906 0.66697
NM_000709.4(BCKDHA):c.1221A>G (p.Leu407=) rs4674 0.66668
NM_005029.4(PITX3):c.285C>T (p.Ile95=) rs2281983 0.66644
NM_001035.3(RYR2):c.13913+12A>C rs790900 0.66578
NM_001374353.1(GLI2):c.3865G>A (p.Asp1289Asn) rs12711538 0.66550
NM_000709.4(BCKDHA):c.972C>T (p.Phe324=) rs284652 0.66509
NM_004560.4(ROR2):c.733A>G (p.Thr245Ala) rs10820900 0.66416
NM_001164508.2(NEB):c.18305G>C (p.Arg6102Thr) rs2288210 0.66332
NM_001164508.2(NEB):c.4471G>A (p.Val1491Met) rs7426114 0.66326
NM_182760.4(SUMF1):c.1116T>C (p.Thr372=) rs2633852 0.66322
NM_012463.4(ATP6V0A2):c.426T>C (p.Asn142=) rs1139789 0.66312
NM_000282.4(PCCA):c.1644-31A>G rs9518061 0.66246
NM_182914.3(SYNE2):c.20062-119G>C rs1152588 0.66235
NM_201384.3(PLEC):c.2457+6C>T rs11780911 0.66214
NM_000108.5(DLD):c.439-7T>C rs10263341 0.66181
NM_001165963.4(SCN1A):c.1212A>G (p.Val404=) rs7580482 0.66162
NM_194318.4(B3GLCT):c.1108G>A (p.Glu370Lys) rs1041073 0.66142
NM_000336.3(SCNN1B):c.279T>C (p.Pro93=) rs238547 0.66128
NM_012463.4(ATP6V0A2):c.471T>C (p.Ser157=) rs1399961 0.66054
NM_001008216.2(GALE):c.873+13G>A rs760941 0.65959
NM_018139.3(DNAAF2):c.186G>C (p.Glu62Asp) rs2985684 0.65918
NM_012463.4(ATP6V0A2):c.432+14C>T rs11837144 0.65907
NM_001244710.2(GFPT1):c.1105+7A>G rs6722492 0.65895
NM_018139.3(DNAAF2):c.498C>T (p.Ala166=) rs2985685 0.65889
NM_022437.3(ABCG8):c.1412-8C>T rs28517482 0.65816
NM_000152.5(GAA):c.547-39T>G rs12452721 0.65696
NM_000152.5(GAA):c.596A>G (p.His199Arg) rs1042393 0.65667
NM_000152.5(GAA):c.547-4C>G rs3816256 0.65665
NM_000152.5(GAA):c.668G>A (p.Arg223His) rs1042395 0.65662
NM_014000.3(VCL):c.875-24T>A rs1908339 0.65590
NM_018139.3(DNAAF2):c.1482A>G (p.Thr494=) rs2985687 0.65543
NM_000152.5(GAA):c.1438-19G>C rs2304844 0.65495
NM_000152.5(GAA):c.955+12G>A rs2252455 0.65487
NM_000152.5(GAA):c.1203G>A (p.Gln401=) rs1800304 0.65453
NM_000240.4(MAOA):c.1410T>C (p.Asp470=) rs1137070 0.65298
NM_006096.4(NDRG1):c.64-6T>C rs2272653 0.65276
NM_001277313.2(FMN1):c.3714+12T>C rs173224 0.65169
NM_207391.3(RGS9BP):c.*2G>A rs259291 0.65138
NM_153704.6(TMEM67):c.1066-3C>T rs3097427 0.65135
NM_000152.5(GAA):c.858+30T>C rs2304845 0.65092
NM_000277.3(PAH):c.696G>A (p.Gln232=) rs1126758 0.64991
NM_021098.3(CACNA1H):c.6230G>A (p.Arg2077His) rs1054645 0.64981
NM_000262.3(NAGA):c.279G>A (p.Pro93=) rs133369 0.64950
NM_001164508.2(NEB):c.24766-18C>T rs2288195 0.64910
NM_001023570.4(IQCB1):c.574C>T (p.Leu192=) rs4543051 0.64838
NM_016247.4(IMPG2):c.2021C>T (p.Thr674Ile) rs571391 0.64801
NM_006348.5(COG5):c.895T>C (p.Phe299Leu) rs2269970 0.64619
NM_000168.6(GLI3):c.547A>G (p.Thr183Ala) rs846266 0.64495
NM_000631.5(NCF4):c.528+16A>G rs2072708 0.64364
NM_019098.5(CNGB3):c.892A>C (p.Thr298Pro) rs4961206 0.64246
NM_000540.3(RYR1):c.1668G>A (p.Ser556=) rs2288888 0.64200
NM_001378964.1(CDON):c.223G>A (p.Val75Ile) rs3740912 0.64193
NM_001377.3(DYNC2H1):c.6951C>T (p.His2317=) rs586592 0.64171
NM_000163.5(GHR):c.558A>G (p.Gly186=) rs6179 0.64137
NM_001164508.2(NEB):c.24433G>C (p.Ala8145Pro) rs7575451 0.64120
NM_020451.3(SELENON):c.1506C>A (p.Asn502Lys) rs2294228 0.64022
NM_001127222.2(CACNA1A):c.1182G>A (p.Glu394=) rs2248069 0.64010
NM_006005.3(WFS1):c.1500C>T (p.Asn500=) rs1801214 0.63787
NM_015910.7(WDPCP):c.1915+13G>A rs992214 0.63738
NM_001184.4(ATR):c.1776T>A (p.Gly592=) rs2227930 0.63717
NM_005670.4(EPM2A):c.159C>G (p.Ala53=) rs2235482 0.63686
NM_004715.5(CTDP1):c.181T>G (p.Ser61Ala) rs17855830 0.63679
NM_001184.4(ATR):c.632T>C (p.Met211Thr) rs2227928 0.63625
NM_000709.4(BCKDHA):c.995+49G>A rs284654 0.63462
NM_001701.4(BAAT):c.59G>A (p.Arg20Gln) rs1572983 0.63259
NM_006005.3(WFS1):c.461-9A>G rs10010131 0.63169
NM_001348946.2(ABCB1):c.1236T>C (p.Gly412=) rs1128503 0.63165
NM_004473.4(FOXE1):c.825C>T (p.Ser275=) rs3021526 0.63054
NM_000426.4(LAMA2):c.7830G>C (p.Val2610=) rs2229849 0.63028
NM_000426.4(LAMA2):c.7760C>T (p.Ala2587Val) rs2229848 0.62946
NM_000540.3(RYR1):c.2286C>T (p.Pro762=) rs3745847 0.62871
NM_001127644.2(GABRA1):c.1059+15G>A rs2279020 0.62825
NM_000350.3(ABCA4):c.4773+48C>T rs472908 0.62724
NM_017617.5(NOTCH1):c.312T>C (p.Asn104=) rs4489420 0.62688
NM_000546.6(TP53):c.215C>G (p.Pro72Arg) rs1042522 0.62654
NM_002225.5(IVD):c.234+14T>C rs2289331 0.62561
NM_001358921.2(COQ2):c.46G>T (p.Val16Leu) rs6818847 0.62431
NM_207352.4(CYP4V2):c.810T>G (p.Ala270=) rs3736455 0.62273
NM_000405.5(GM2A):c.175A>G (p.Ile59Val) rs153477 0.62259
NM_006005.3(WFS1):c.461-15C>T rs9998519 0.62200
NM_003793.4(CTSF):c.1401T>C (p.Arg467=) rs572846 0.62182
NM_001042413.2(GLIS3):c.1367C>A (p.Pro456Gln) rs6415788 0.62075
NM_001012720.2(RGR):c.27T>C (p.Thr9=) rs2279227 0.62051
NM_001111.5(ADAR):c.1151A>G (p.Lys384Arg) rs2229857 0.61729
NM_018344.6(SLC29A3):c.473C>T (p.Ser158Phe) rs780668 0.61569
NM_014271.4(IL1RAPL1):c.-19G>A rs6526806 0.61514
NM_001374353.1(GLI2):c.3888A>G (p.Pro1296=) rs10167980 0.61468
NM_003673.4(TCAP):c.453A>C (p.Ala151=) rs1053651 0.61044
NM_001374353.1(GLI2):c.3415G>T (p.Ala1139Ser) rs3738880 0.61025
NM_000540.3(RYR1):c.594A>G (p.Leu198=) rs2229139 0.60966
NM_024312.5(GNPTAB):c.3135+5T>C rs759935 0.60955
NM_014336.5(AIPL1):c.300A>G (p.Leu100=) rs8075035 0.60839
NM_001035.3(RYR2):c.13476+16A>G rs2256242 0.60593
NM_001130987.2(DYSF):c.1449+13C>T rs4852801 0.60553
NM_001848.3(COL6A1):c.1095T>C (p.Gly365=) rs1980982 0.60426
NM_207346.3(TSEN54):c.12G>T (p.Glu4Asp) rs7216673 0.60248
NM_000540.3(RYR1):c.2943G>A (p.Thr981=) rs2228069 0.60233
NM_002546.4(TNFRSF11B):c.9C>G (p.Asn3Lys) rs2073618 0.60108
NM_183050.4(BCKDHB):c.841-73C>T rs3828753 0.60052
NM_000231.3(SGCG):c.705T>C (p.Leu235=) rs1800353 0.60006
NM_001429.4(EP300):c.3183T>A (p.Thr1061=) rs20552 0.59984
NM_198525.3(KIF7):c.1788+13T>C rs1110060 0.59982
NM_133497.4(KCNV2):c.183C>G (p.Gly61=) rs10967705 0.59972
NM_001287.6(CLCN7):c.126T>C (p.Pro42=) rs3751884 0.59955
NM_000260.4(MYO7A):c.4996A>T (p.Ser1666Cys) rs2276288 0.59864
NM_000322.5(PRPH2):c.318T>C (p.Val106=) rs7764439 0.59853
NM_001364171.2(ODAD1):c.2019T>C (p.Ser673=) rs7252988 0.59744
NM_000334.4(SCN4A):c.4126A>G (p.Asn1376Asp) rs2058194 0.59717
NM_006416.5(SLC35A1):c.-18G>C rs9450704 0.59575
NM_001875.5(CPS1):c.1032C>T (p.Thr344=) rs2229589 0.59558
NM_000038.6(APC):c.5034G>A (p.Gly1678=) rs42427 0.59504
NM_001189.4(NKX3-2):c.247C>A (p.Arg83=) rs9684692 0.59492
NM_000038.6(APC):c.5880G>A (p.Pro1960=) rs465899 0.59308
NM_172107.4(KCNQ2):c.2339A>C (p.Asn780Thr) rs1801475 0.59301
NM_000038.6(APC):c.5268T>G (p.Ser1756=) rs866006 0.59230
NM_000038.6(APC):c.4479G>A (p.Thr1493=) rs41115 0.59177
NM_000038.6(APC):c.1635G>A (p.Ala545=) rs351771 0.59150
NM_000709.4(BCKDHA):c.376-10A>C rs3213861 0.59120
NM_001134831.2(AHI1):c.3426+13G>A rs6914831 0.59084
NM_001360.3(DHCR7):c.189G>A (p.Gln63=) rs1044482 0.59041
NM_000275.3(OCA2):c.1065G>A (p.Ala355=) rs1800404 0.59023
NM_000255.4(MMUT):c.2011A>G (p.Ile671Val) rs8589 0.58978
NM_001039141.3(TRIOBP):c.3899A>G (p.His1300Arg) rs739138 0.58971
NM_002206.3(ITGA7):c.1282-11T>C rs2293412 0.58963
NM_000742.4(CHRNA2):c.373A>G (p.Thr125Ala) rs891398 0.58886
NM_005908.4(MANBA):c.850-31T>C rs227365 0.58834
NM_006846.4(SPINK5):c.1659C>T (p.Val553=) rs2303071 0.58781
NM_014049.5(ACAD9):c.347-20C>T rs1683791 0.58733
NM_024312.5(GNPTAB):c.1932A>G (p.Thr644=) rs10778148 0.58708
NM_017617.5(NOTCH1):c.6555C>T (p.Asp2185=) rs2229974 0.58641
NM_002181.4(IHH):c.753T>C (p.Pro251=) rs3731881 0.58582
NM_000255.4(MMUT):c.636G>A (p.Lys212=) rs2229384 0.58567
NM_000252.3(MTM1):c.1260+3G>A rs222410 0.58566
NM_207346.3(TSEN54):c.1041G>C (p.Lys347Asn) rs9911502 0.58492
NM_001848.3(COL6A1):c.1461+18C>A rs2276254 0.58488
NM_201548.5(CERKL):c.896-18T>A rs13003064 0.58461
NM_206933.4(USH2A):c.10232A>C (p.Glu3411Ala) rs10864198 0.58403
NM_033100.4(CDHR1):c.2439T>C (p.Thr813=) rs3814213 0.58250
NM_030665.4(RAI1):c.1992G>A (p.Pro664=) rs8067439 0.58185
NM_001080413.3(NOBOX):c.1549T>C (p.Phe517Leu) rs2699503 0.58167
NM_006080.3(SEMA3A):c.2151A>G (p.Thr717=) rs797821 0.58113
NM_020166.5(MCCC1):c.1391A>C (p.His464Pro) rs2270968 0.58081
NM_006005.3(WFS1):c.2433G>A (p.Lys811=) rs1046314 0.57941
NM_080680.3(COL11A2):c.2628+3G>A rs970901 0.57903
NM_000152.5(GAA):c.2553G>A (p.Gly851=) rs1042397 0.57872
NM_052845.4(MMAB):c.716T>A (p.Met239Lys) rs9593 0.57816
NM_000542.5(SFTPB):c.392C>T (p.Thr131Ile) rs1130866 0.57811
NM_001032382.2(PQBP1):c.180-3C>T rs741932 0.57792
NM_080916.3(DGUOK):c.*13A>T rs4777 0.57593
NM_014141.6(CNTNAP2):c.3723G>A (p.Ala1241=) rs9648691 0.57506
NM_000843.4(GRM6):c.176A>C (p.Gln59Pro) rs2645329 0.57334
NM_000053.4(ATP7B):c.3419T>C (p.Val1140Ala) rs1801249 0.57256
NM_000843.4(GRM6):c.1392A>G (p.Gly464=) rs11746675 0.57251
NM_198525.3(KIF7):c.3112-11_3112-10insCT rs35820949 0.57089
NM_003742.4(ABCB11):c.1331T>C (p.Val444Ala) rs2287622 0.57004
NM_000719.7(CACNA1C):c.5361G>A (p.Thr1787=) rs1051375 0.57002
NM_000516.7(GNAS):c.393C>T (p.Ile131=) rs7121 0.56988
NM_006059.4(LAMC3):c.219T>G (p.His73Gln) rs3739512 0.56936
NM_000287.4(PEX6):c.1961+20G>A rs2274514 0.56870
NM_000287.4(PEX6):c.2814G>A (p.Glu938=) rs1129186 0.56758
NM_000492.4(CFTR):c.1408G>A (p.Val470Met) rs213950 0.56732
NM_001365536.1(SCN9A):c.1287T>A (p.Arg429=) rs6747673 0.56670
NM_000260.4(MYO7A):c.5857-7A>T rs1320703 0.56654
NM_006005.3(WFS1):c.1185C>T (p.Val395=) rs1801206 0.56648
NM_000018.4(ACADVL):c.1605+6T>C rs17671352 0.56622
NM_004369.4(COL6A3):c.6855G>C (p.Gly2285=) rs3790993 0.56512
NM_000053.4(ATP7B):c.2855G>A (p.Arg952Lys) rs732774 0.56484
NM_001365536.1(SCN9A):c.2105-14C>T rs6432893 0.56480
NM_031935.3(HMCN1):c.8678A>G (p.Glu2893Gly) rs10798035 0.56453
NM_001360.3(DHCR7):c.1272C>T (p.Gly424=) rs909217 0.56172
NM_018055.5(NODAL):c.494A>G (p.His165Arg) rs1904589 0.56006
NM_016239.4(MYO15A):c.7857G>A (p.Gly2619=) rs854772 0.55976
NM_198506.5(LRIT3):c.524G>A (p.Ser175Asn) rs4698797 0.55919
NM_001164508.2(NEB):c.21585A>G (p.Thr7195=) rs4664475 0.55659
NM_201384.3(PLEC):c.11886A>G (p.Thr3962=) rs6558406 0.55590
NM_198506.5(LRIT3):c.1006A>T (p.Met336Leu) rs764205 0.55477
NM_000251.3(MSH2):c.211+9C>G rs2303426 0.55454
NM_005908.4(MANBA):c.2015-28G>A rs4547797 0.55331
NM_005908.4(MANBA):c.2368T>C (p.Leu790=) rs2272697 0.55313
NM_004260.4(RECQL4):c.132A>G (p.Glu44=) rs2306386 0.54741
NM_000053.4(ATP7B):c.2495A>G (p.Lys832Arg) rs1061472 0.54674
NM_207391.3(RGS9BP):c.286G>T (p.Ala96Ser) rs259290 0.54611
NM_000275.3(OCA2):c.1551C>T (p.Cys517=) rs1800411 0.54427
NM_001849.4(COL6A2):c.2462-35C>T rs7279622 0.54180
NM_201384.3(PLEC):c.12813A>G (p.Ser4271=) rs6558405 0.54173
NM_201384.3(PLEC):c.13461T>C (p.Ala4487=) rs7014582 0.54076
NM_006517.5(SLC16A2):c.97T>C (p.Ser33Pro) rs6647476 0.54054
NM_000059.4(BRCA2):c.7806-14T>C rs9534262 0.53977
NM_201384.3(PLEC):c.11628A>G (p.Pro3876=) rs7822511 0.53938
NM_001018113.3(FANCB):c.1327-10T>C rs2905223 0.53797
NM_000053.4(ATP7B):c.3903+6C>T rs2282057 0.53754
NM_020661.4(AICDA):c.465C>T (p.His155=) rs2028373 0.53597
NM_198525.3(KIF7):c.3048G>A (p.Ser1016=) rs9672286 0.53592
NM_198525.3(KIF7):c.2896-14G>A rs9672296 0.53577
NM_004994.3(MMP9):c.1821A>C (p.Gly607=) rs13969 0.53502
NM_001159699.2(FHL1):c.737-8C>T rs2076705 0.53498
NM_201384.3(PLEC):c.7960T>C (p.Ser2654Pro) rs7833924 0.53335
NM_001035.3(RYR2):c.677-11T>A rs10754602 0.53281
NM_001793.6(CDH3):c.2239C>A (p.Arg747=) rs17715450 0.53279
NM_174912.4(FAAH2):c.1404T>C (p.Pro468=) rs1367830 0.53243
NM_014425.5(INVS):c.2412T>C (p.Ser804=) rs2787374 0.53208
NM_020223.4(FAM20C):c.1659G>T (p.Val553=) rs36170987 0.52970
NM_025193.4(HSD3B7):c.748A>G (p.Thr250Ala) rs9938550 0.52796
NM_025193.4(HSD3B7):c.1068T>C (p.Arg356=) rs2305880 0.52781
NM_001985.3(ETFB):c.461C>T (p.Thr154Met) rs1130426 0.52772
NM_138694.4(PKHD1):c.12143A>G (p.Gln4048Arg) rs9381994 0.52715
NM_033028.5(BBS4):c.1061T>C (p.Ile354Thr) rs2277598 0.52665
NM_198525.3(KIF7):c.3013G>A (p.Gly1005Arg) rs12900805 0.52523
NM_032119.4(ADGRV1):c.11682C>T (p.Pro3894=) rs2438349 0.52519
NM_198525.3(KIF7):c.2873G>T (p.Ser958Ile) rs3803530 0.52464
NM_138694.4(PKHD1):c.11696A>G (p.Gln3899Arg) rs4715227 0.52431
NM_014336.5(AIPL1):c.277-10A>C rs12453262 0.52383
NM_000088.4(COL1A1):c.4249-12G>A rs2249492 0.52233
NM_000181.4(GUSB):c.1065+27C>G rs781143 0.52153
NM_000017.4(ACADS):c.321T>C (p.Arg107=) rs3914 0.51709
NM_001035.3(RYR2):c.1359C>T (p.Ser453=) rs3765097 0.51474
NM_001848.3(COL6A1):c.1822+80G>A rs7283989 0.51414
NM_000135.4(FANCA):c.1501G>A (p.Gly501Ser) rs2239359 0.51262
NM_000275.3(OCA2):c.1365-15C>T rs12910433 0.51222
NM_001953.5(TYMP):c.972C>T (p.Ala324=) rs131804 0.51130
NM_002485.5(NBN):c.1197T>C (p.Asp399=) rs709816 0.51063
NM_003630.3(PEX3):c.942-13A>G rs161058 0.51037
NM_018714.3(COG1):c.1175A>G (p.Asn392Ser) rs1026128 0.50958
NM_001042545.2(LTBP4):c.379G>A (p.Val127Ile) rs2303729 0.50929
NM_000088.4(COL1A1):c.2560-18C>G rs2075559 0.50861
NM_001012720.2(RGR):c.459C>T (p.Tyr153=) rs1042454 0.50840
NM_000426.4(LAMA2):c.5466A>G (p.Glu1822=) rs3749877 0.50817
NM_031220.4(PITPNM3):c.705C>T (p.Thr235=) rs938288 0.50749
NM_182914.3(SYNE2):c.19333+5C>T rs1152590 0.50736
NM_000426.4(LAMA2):c.5502G>A (p.Glu1834=) rs3749878 0.50693
NM_001033859.2(ACADVL):c.-63_-49dup rs6145976 0.50677
NM_000181.4(GUSB):c.1946T>C (p.Leu649Pro) rs9530 0.50676
NM_002334.4(LRP4):c.3256A>G (p.Ile1086Val) rs6485702 0.50674
NM_021098.3(CACNA1H):c.1809A>G (p.Arg603=) rs9934839 0.50649
NM_000843.4(GRM6):c.1353T>C (p.Asn451=) rs2067011 0.50613
NM_014008.5(CCDC22):c.1540-18T>C rs2294021 0.50585
NM_004385.5(VCAN):c.4547A>G (p.Lys1516Arg) rs309559 0.50554
NM_001142800.2(EYS):c.1809C>T (p.Val603=) rs9345601 0.50550
NM_001142800.2(EYS):c.1891G>A (p.Gly631Ser) rs9342464 0.50535
NM_005529.7(HSPG2):c.3897G>A (p.Val1299=) rs2229482 0.50526
NM_004385.5(VCAN):c.5808T>C (p.Gly1936=) rs309557 0.50487
NM_001848.3(COL6A1):c.2251-29C>T rs35796750 0.50435
NM_004385.5(VCAN):c.6723A>G (p.Arg2241=) rs160279 0.50384
NM_201384.3(PLEC):c.11127T>C (p.Ala3709=) rs7819099 0.50384
NM_002968.3(SALL1):c.2574C>T (p.Leu858=) rs1965024 0.50381
NM_182961.4(SYNE1):c.1047+4T>A rs9397106 0.50379
NM_022464.5(SIL1):c.153A>G (p.Thr51=) rs3088052 0.50252
NM_130837.3(OPA1):c.473G>A (p.Ser158Asn) rs7624750 0.50224
NM_001277115.2(DNAH11):c.4377+15A>G rs57208694 0.50202
NM_130837.3(OPA1):c.2274T>C (p.Ala758=) rs9851685 0.50117
NM_000260.4(MYO7A):c.783T>C (p.Gly261=) rs762667 0.50077
NM_001854.4(COL11A1):c.3968C>T (p.Pro1323Leu) rs3753841 0.50032
NM_206933.4(USH2A):c.6506T>C (p.Ile2169Thr) rs10864219 0.50009
NM_005045.4(RELN):c.8046T>C (p.His2682=) rs2229864 0.49951
NM_138694.4(PKHD1):c.7587G>A (p.Gly2529=) rs12210295 0.49949
NM_000153.4(GALC):c.1685T>C (p.Ile562Thr) rs398607 0.49946
NM_000271.5(NPC1):c.2572A>G (p.Ile858Val) rs1805082 0.49943
NM_000843.4(GRM6):c.1227C>T (p.Tyr409=) rs2645339 0.49941
NM_024757.5(EHMT1):c.1089T>C (p.Gly363=) rs1129768 0.49865
NM_001848.3(COL6A1):c.1399-32T>C rs2839077 0.49659
NM_005045.4(RELN):c.578-3T>C rs607755 0.49658
NM_002206.3(ITGA7):c.334+19A>G rs2293413 0.49590
NM_000104.4(CYP1B1):c.1347T>C (p.Asp449=) rs1056837 0.49486
NM_017950.4(CCDC40):c.3417A>G (p.Pro1139=) rs2304854 0.49481
NM_001605.3(AARS1):c.903C>T (p.His301=) rs2070203 0.49332
NM_000875.5(IGF1R):c.1590-20T>C rs2272037 0.49319
NM_001297.5(CNGB1):c.2218-12C>T rs483053 0.49292
NM_014845.6(FIG4):c.1948+3A>G rs10499054 0.49269
NM_001849.4(COL6A2):c.1116+32G>A rs7279347 0.49217
NM_000489.6(ATRX):c.2785= (p.Glu929=) rs3088074 0.49116
NM_017617.5(NOTCH1):c.2588-4G>A rs3125001 0.48926
NM_024577.4(SH3TC2):c.1194T>C (p.Gly398=) rs1432793 0.48793
NM_001848.3(COL6A1):c.1956+15C>T rs11701124 0.48762
NM_000104.4(CYP1B1):c.1294= (p.Leu432=) rs1056836 0.48746
NM_001130987.2(DYSF):c.1034-20G>A rs12713756 0.48623
NM_000243.3(MEFV):c.306T>C (p.Asp102=) rs224225 0.48544
NM_002206.3(ITGA7):c.1952G>A (p.Arg651His) rs1800974 0.48530
NM_006031.6(PCNT):c.7977G>C (p.Gln2659His) rs2070426 0.48521
NM_000243.3(MEFV):c.495C>A (p.Ala165=) rs224223 0.48450
NM_002335.4(LRP5):c.884-4T>C rs314776 0.48379
NM_000487.6(ARSA):c.1178C>G (p.Thr393Ser) rs743616 0.48362
NM_004183.4(BEST1):c.109T>C (p.Leu37=) rs1800007 0.48331
NM_001035.3(RYR2):c.1612+14T>C rs2045955 0.48321
NM_019109.5(ALG1):c.1149C>T (p.Phe383=) rs1047732 0.48295
NM_000404.4(GLB1):c.29C>T (p.Pro10Leu) rs7637099 0.48281
NM_017617.5(NOTCH1):c.1555+10A>G rs11145767 0.47945
NM_015404.4(WHRN):c.1838T>C (p.Met613Thr) rs942519 0.47944
NM_001130987.2(DYSF):c.4062C>A (p.Ile1354=) rs2303606 0.47852
NM_001035.3(RYR2):c.7806C>T (p.His2602=) rs684923 0.47802
NM_018451.5(CENPJ):c.3042A>G (p.Glu1014=) rs3742165 0.47759
NM_052859.4(RFT1):c.1623A>G (p.Thr541=) rs11242 0.47740
NM_000260.4(MYO7A):c.4755C>T (p.Ser1585=) rs7927472 0.47702
NM_000352.6(ABCC8):c.207T>C (p.Pro69=) rs1048099 0.47531
NM_001386140.1(MTTP):c.453T>C (p.Gly151=) rs991811 0.47516
NM_000275.3(OCA2):c.2328T>C (p.Ala776=) rs1800419 0.47440
NM_002206.3(ITGA7):c.3184-12G>C rs3852533 0.47439
NM_173500.4(TTBK2):c.23T>C (p.Leu8Pro) rs6493068 0.47359
NM_000231.3(SGCG):c.312T>G (p.Leu104=) rs1800351 0.47318
NM_002206.3(ITGA7):c.2004-19G>A rs2293410 0.47288
NM_003701.4(TNFSF11):c.126T>C (p.Pro42=) rs2296533 0.47237
NM_000260.4(MYO7A):c.47T>C (p.Leu16Ser) rs1052030 0.47208
NM_000350.3(ABCA4):c.1240-14C>T rs4147830 0.47169
NM_017617.5(NOTCH1):c.1670-9A>G rs3124603 0.47096
NM_144997.7(FLCN):c.1062+6C>T rs8065832 0.47076
NM_001252024.2(TRPM1):c.1305G>A (p.Thr435=) rs1035705 0.47013
NM_000038.6(APC):c.1458T>C (p.Tyr486=) rs2229992 0.46792
NM_002381.5(MATN3):c.447C>T (p.Ala149=) rs28598872 0.46576
NM_000199.5(SGSH):c.663+17T>C rs6565647 0.46516
NM_001848.3(COL6A1):c.-5C>G rs7671 0.46506
NM_002381.5(MATN3):c.615G>A (p.Glu205=) rs28401180 0.46446
NM_001297.5(CNGB1):c.1122-15C>T rs2303778 0.46316
NM_207352.4(CYP4V2):c.64C>G (p.Leu22Val) rs1055138 0.46276
NM_003742.4(ABCB11):c.3084A>G (p.Ala1028=) rs497692 0.46166
NM_005751.5(AKAP9):c.5163-20G>A rs9785013 0.46162
NM_000243.3(MEFV):c.1588-69G>A rs224205 0.46073
NM_000098.3(CPT2):c.1102G>A (p.Val368Ile) rs1799821 0.46024
NM_001277115.2(DNAH11):c.705C>T (p.Asn235=) rs10950854 0.45869
NM_000271.5(NPC1):c.2793C>T (p.Asn931=) rs1140458 0.45824
NM_014053.4(FLVCR1):c.154G>C (p.Ala52Pro) rs11120047 0.45814
NM_002435.3(MPI):c.1131A>G (p.Val377=) rs1130741 0.45813
NM_000751.3(CHRND):c.12A>G (p.Pro4=) rs2245601 0.45730
NM_006009.4(TUBA1A):c.288A>G (p.Lys96=) rs1056875 0.45696
NM_005751.5(AKAP9):c.4004_4006dup (p.Lys1335_Leu1336insGln) rs10644111 0.45670
NM_138694.4(PKHD1):c.8302+12T>A rs1571084 0.45597
NM_001844.5(COL2A1):c.2400T>C (p.Asn800=) rs1635553 0.45566
NM_024596.5(MCPH1):c.2215-19A>G rs2936531 0.45478
NM_001849.4(COL6A2):c.2039G>A (p.Arg680His) rs1042917 0.45419
NM_001849.4(COL6A2):c.928-19C>T rs762438 0.45414
NM_153026.3(PRICKLE1):c.1902T>C (p.Ser634=) rs3747562 0.45408
NM_014049.5(ACAD9):c.379A>C (p.Arg127=) rs1680778 0.45398
NM_000217.3(KCNA1):c.*9G>A rs4766310 0.45248
NM_001244008.2(KIF1A):c.991T>C (p.Leu331=) rs1063353 0.45235
NM_133497.4(KCNV2):c.795C>G (p.Ala265=) rs12237048 0.45225
NM_001042472.3(ABHD12):c.1068T>C (p.Asp356=) rs10966 0.45223
NM_001399.5(EDA):c.706+11_706+12del rs10579679 0.45223
NM_033109.5(PNPT1):c.1074-19A>G rs782637 0.45197
NM_015311.3(OBSL1):c.5309-4C>G rs34490902 0.45189
NM_000137.4(FAH):c.82-13G>A rs1370275 0.45099
NM_004525.3(LRP2):c.10503G>A (p.Gln3501=) rs2229265 0.45093
NM_032119.4(ADGRV1):c.17626G>A (p.Val5876Ile) rs2247870 0.45079
NM_000153.4(GALC):c.1671-15C>T rs12432149 0.45011
NM_001277115.2(DNAH11):c.2454A>G (p.Ala818=) rs4615458 0.44959
NM_000492.4(CFTR):c.2562T>G (p.Thr854=) rs1042077 0.44737
NM_001277115.2(DNAH11):c.101A>T (p.Glu34Val) rs2285944 0.44667
NM_001277115.2(DNAH11):c.100G>T (p.Glu34Ter) rs2285943 0.44658
NM_006949.4(STXBP2):c.1356+18A>G rs889187 0.44557
NM_015046.7(SETX):c.7759A>G (p.Ile2587Val) rs1056899 0.44536
NM_001849.4(COL6A2):c.2097C>T (p.Gly699=) rs13046639 0.44460
NM_001849.4(COL6A2):c.2094G>A (p.Ala698=) rs13052956 0.44458
NM_000543.5(SMPD1):c.107T>C (p.Val36Ala) rs1050228 0.44445
NM_001202.6(BMP4):c.455T>C (p.Val152Ala) rs17563 0.44424
NM_130837.3(OPA1):c.1035+32T>C rs10451941 0.44363
NM_004560.4(ROR2):c.2088C>T (p.Tyr696=) rs10992063 0.44353
NM_000335.5(SCN5A):c.5454T>C (p.Asp1818=) rs1805126 0.44288
NM_006846.4(SPINK5):c.1258A>G (p.Lys420Glu) rs2303067 0.44148
NM_000101.4(CYBA):c.203+8T>C rs4782393 0.44118
NM_021098.3(CACNA1H):c.1107T>C (p.Ile369=) rs8044363 0.44103
NM_004387.4(NKX2-5):c.63A>G (p.Glu21=) rs2277923 0.44081
NM_024596.5(MCPH1):c.2282C>T (p.Ala761Val) rs1057090 0.44044
NM_002880.4(RAF1):c.1669-36C>T rs3729931 0.43953
NM_018714.3(COG1):c.543A>G (p.Ala181=) rs11544800 0.43890
NM_018714.3(COG1):c.333G>A (p.Gln111=) rs1052706 0.43844
NM_015311.3(OBSL1):c.5300G>A (p.Arg1767Gln) rs59332477 0.43789
NM_000523.4(HOXD13):c.204G>A (p.Ala68=) rs2518053 0.43768
NM_030665.4(RAI1):c.269G>C (p.Gly90Ala) rs3803763 0.43727
NM_001614.5(ACTG1):c.363+13C>A rs9910792 0.43644
NM_001367624.2(ZNF469):c.8604C>T (p.Arg2868=) rs3812953 0.43642
NM_014049.5(ACAD9):c.1279-7A>G rs1683787 0.43618
NM_030803.7(ATG16L1):c.898A>G (p.Thr300Ala) rs2241880 0.43552
NM_207361.6(FREM2):c.3209T>C (p.Phe1070Ser) rs2496425 0.43515
NM_001161352.2(KCNMA1):c.687C>T (p.Phe229=) rs1131824 0.43499
NM_020751.3(COG6):c.94T>A (p.Cys32Ser) rs3812883 0.43470
NM_000334.4(SCN4A):c.4869A>G (p.Thr1623=) rs2070720 0.43390
NM_001025295.3(IFITM5):c.80G>C (p.Gly27Ala) rs57285449 0.43349
NM_000492.4(CFTR):c.1408= (p.Val470=) rs213950 0.43268
NM_015506.3(MMACHC):c.321G>A (p.Val107=) rs2275276 0.43226
NM_006005.3(WFS1):c.1832G>A (p.Arg611His) rs734312 0.43085
NM_003482.4(KMT2D):c.7479G>T (p.Gly2493=) rs10747559 0.42978
NM_001305581.2(LRMDA):c.364T>C (p.Leu122=) rs1898071 0.42882
NM_015884.4(MBTPS2):c.222A>G (p.Gln74=) rs3213451 0.42789
NM_006306.4(SMC1A):c.-19C>T rs1264011 0.42752
NM_017534.6(MYH2):c.324A>G (p.Glu108=) rs12600539 0.42634
NM_000163.5(GHR):c.1630A>C (p.Ile544Leu) rs6180 0.42616
NM_003482.4(KMT2D):c.10836G>A (p.Gln3612=) rs3782357 0.42594
NM_183050.4(BCKDHB):c.197-11G>T rs9448894 0.42545
NM_030665.4(RAI1):c.5601T>C (p.Ile1867=) rs3818717 0.42485
NM_014141.6(CNTNAP2):c.551-11_551-10insG rs35167289 0.42413
NM_001177316.2(SLC34A3):c.757T>C (p.Leu253=) rs28407527 0.42407
NM_177924.5(ASAH1):c.277A>G (p.Ile93Val) rs1049874 0.42365
NM_182760.4(SUMF1):c.*10A>G rs35083095 0.42363
NM_177924.5(ASAH1):c.303+7G>A rs4921834 0.42285
NM_003060.4(SLC22A5):c.285T>C (p.Leu95=) rs2631365 0.42203
NM_001277115.2(DNAH11):c.7290C>T (p.Phe2430=) rs12536928 0.42173
NM_005334.3(HCFC1):c.5859C>T (p.Cys1953=) rs3027875 0.42119
NM_152618.3(BBS12):c.1157G>A (p.Arg386Gln) rs309370 0.42071
NM_005751.5(AKAP9):c.8665C>T (p.Leu2889=) rs10228334 0.42044
NM_005751.5(AKAP9):c.3504A>G (p.Glu1168=) rs13245393 0.42036
NM_014324.6(AMACR):c.25G>A (p.Val9Met) rs3195676 0.42007
NM_000834.5(GRIN2B):c.366C>G (p.Pro122=) rs7301328 0.41972
NM_004260.4(RECQL4):c.801G>C (p.Glu267Asp) rs4244612 0.41942
NM_000053.4(ATP7B):c.1366G>C (p.Val456Leu) rs1801244 0.41941
NM_004183.4(BEST1):c.1608T>C (p.Thr536=) rs1800009 0.41922
NM_005751.5(AKAP9):c.1389G>T (p.Met463Ile) rs6964587 0.41920
NM_000900.5(MGP):c.304A>G (p.Thr102Ala) rs4236 0.41895
NM_001048166.1(STIL):c.3486T>C (p.Pro1162=) rs2758735 0.41846
NM_153676.4(USH1C):c.105-16C>T rs2041027 0.41822
NM_000249.4(MLH1):c.1668-19A>G rs9876116 0.41821
NM_001034116.2(EIF2B4):c.1014-7A>G rs2280737 0.41637
NM_000053.4(ATP7B):c.1216T>G (p.Ser406Ala) rs1801243 0.41549
NM_001174147.2(LMX1B):c.726G>C (p.Ser242=) rs13295990 0.41484
NM_138694.4(PKHD1):c.2278C>T (p.Arg760Cys) rs9370096 0.41404
NM_001034116.2(EIF2B4):c.76-7G>A rs7602534 0.41365
NM_016239.4(MYO15A):c.1899A>G (p.Pro633=) rs2955366 0.41355
NM_000443.4(ABCB4):c.504C>T (p.Asn168=) rs1202283 0.41352
NM_000243.3(MEFV):c.1764G>A (p.Pro588=) rs1231122 0.41230
NM_004260.4(RECQL4):c.3236+13C>T rs4244610 0.41215
NM_000642.3(AGL):c.-10A>G rs2307130 0.41188
NM_000414.4(HSD17B4):c.1675A>G (p.Ile559Val) rs11205 0.41131
NM_138694.4(PKHD1):c.3785C>T (p.Ala1262Val) rs9296669 0.41087
NM_012179.4(FBXO7):c.345G>A (p.Met115Ile) rs11107 0.40992
NM_022089.4(ATP13A2):c.3516G>A (p.Pro1172=) rs3170740 0.40860
NM_000512.5(GALNS):c.1431G>A (p.Glu477=) rs2303271 0.40780
NM_005751.5(AKAP9):c.6945+8C>T rs733957 0.40759
NM_201548.5(CERKL):c.156C>T (p.Phe52=) rs1473295 0.40745
NM_022124.6(CDH23):c.5996C>G (p.Thr1999Ser) rs11592462 0.40744
NM_004320.6(ATP2A1):c.678T>C (p.Thr226=) rs6565259 0.40633
NM_001164508.2(NEB):c.25204A>G (p.Ile8402Val) rs1061305 0.40617
NM_000287.4(PEX6):c.399G>T (p.Val133=) rs9462858 0.40569
NM_000744.7(CHRNA4):c.1659G>A (p.Ala553=) rs1044397 0.40553
NM_000287.4(PEX6):c.2816C>A (p.Pro939Gln) rs1129187 0.40479
NM_000744.7(CHRNA4):c.1629C>T (p.Ser543=) rs1044396 0.40465
NM_144997.7(FLCN):c.397-14C>T rs1736219 0.40309
NM_000251.3(MSH2):c.1661+12G>A rs3732183 0.40290
NM_001377.3(DYNC2H1):c.10043-15G>T rs648387 0.39966
NM_016239.4(MYO15A):c.1783G>A (p.Ala595Thr) rs2955365 0.39950
NM_014141.6(CNTNAP2):c.3381+17A>C rs3779032 0.39925
NM_000153.4(GALC):c.1350C>T (p.Ser450=) rs398076 0.39907
NM_017875.4(SLC25A38):c.165G>A (p.Leu55=) rs2270770 0.39870
NM_000203.5(IDUA):c.60G>A (p.Ala20=) rs10902762 0.39819
NM_133642.5(LARGE1):c.435C>T (p.Ala145=) rs86487 0.39804
NM_000352.6(ABCC8):c.3819G>A (p.Arg1273=) rs1799859 0.39734
NM_000203.5(IDUA):c.24C>A (p.Ala8=) rs11248061 0.39731
NM_001232.4(CASQ2):c.1185C>T (p.Asp395=) rs7413162 0.39681
NM_024596.5(MCPH1):c.2226C>T (p.Ser742=) rs2912010 0.39666
NM_000337.6(SGCD):c.84T>C (p.Tyr28=) rs1801193 0.39558
NM_001277115.2(DNAH11):c.4449T>C (p.Ile1483=) rs56029521 0.39493
NM_003060.4(SLC22A5):c.807A>G (p.Leu269=) rs274558 0.39440
NM_003060.4(SLC22A5):c.824+13T>C rs274557 0.39418
NM_006950.3(SYN1):c.510T>C (p.Asn170=) rs1142636 0.39391
NM_000875.5(IGF1R):c.3129G>A (p.Glu1043=) rs2229765 0.39376
NM_138694.4(PKHD1):c.7734-4T>C rs7452724 0.39369
NM_002294.3(LAMP2):c.156A>T (p.Val52=) rs12097 0.39324
NM_138694.4(PKHD1):c.7764A>G (p.Leu2588=) rs9349603 0.39323
NM_201384.3(PLEC):c.1815+13A>G rs10866916 0.39200
NM_003482.4(KMT2D):c.2826C>T (p.Ile942=) rs2241726 0.39054
NM_018418.5(SPATA7):c.220G>A (p.Val74Met) rs3179969 0.39047
NM_001167.4(XIAP):c.1268A>C (p.Gln423Pro) rs5956583 0.38953
NM_004369.4(COL6A3):c.7929G>A (p.Ala2643=) rs4433949 0.38748
NM_014324.6(AMACR):c.524G>A (p.Gly175Asp) rs10941112 0.38660
NM_004260.4(RECQL4):c.1258+18G>A rs4251689 0.38613
NM_005876.5(SPEG):c.9236A>G (p.His3079Arg) rs12464085 0.38593
NM_005216.5(DDOST):c.646-16C>T rs607254 0.38527
NM_194318.4(B3GLCT):c.347+20C>G rs9542307 0.38493
NM_004385.5(VCAN):c.5477G>A (p.Arg1826His) rs188703 0.38473
NM_182894.3(VSX2):c.471C>T (p.Ser157=) rs35435463 0.38441
NM_000414.4(HSD17B4):c.317G>A (p.Arg106His) rs25640 0.38375
NM_025074.7(FRAS1):c.7110C>T (p.His2370=) rs7660664 0.38360
NM_001365536.1(SCN9A):c.1266A>G (p.Glu422=) rs13402180 0.38348
NM_001365536.1(SCN9A):c.1119T>C (p.Ala373=) rs13414203 0.38341
NM_000540.3(RYR1):c.7835+5A>G rs1469695 0.38217
NM_001382.4(DPAGT1):c.1177A>G (p.Ile393Val) rs643788 0.38193
NM_000541.5(SAG):c.436-18G>C rs2304774 0.38156
NM_000540.3(RYR1):c.3456C>T (p.Ile1152=) rs11083462 0.38131
NM_015386.3(COG4):c.646C>T (p.Leu216=) rs3762171 0.38086
NM_001277115.2(DNAH11):c.10399G>A (p.Ala3467Thr) rs2214326 0.38066
NM_001128178.3(NPHP1):c.654G>A (p.Glu218=) rs11675767 0.38033
NM_001853.4(COL9A3):c.1288-5T>C rs741758 0.38028
NM_005334.3(HCFC1):c.2841A>G (p.Pro947=) rs730106 0.37791
NM_005334.3(HCFC1):c.3490T>C (p.Ser1164Pro) rs1051152 0.37778
NM_000709.4(BCKDHA):c.995+26C>T rs284653 0.37723
NM_017791.3(FLVCR2):c.648C>G (p.Ser216=) rs2287017 0.37676
NM_000795.4(DRD2):c.957C>T (p.Pro319=) rs6277 0.37659
NM_017791.3(FLVCR2):c.47T>C (p.Val16Ala) rs2287015 0.37653
NM_004260.4(RECQL4):c.3393+8C>T rs756627 0.37589
NM_030665.4(RAI1):c.837_838del (p.Gln280fs) rs35068024 0.37587
NM_004260.4(RECQL4):c.1621-15C>T rs4244611 0.37577
NM_001369.3(DNAH5):c.7609+19C>T rs35732567 0.37414
NM_153717.3(EVC):c.1099-19T>C rs899691 0.37351
NM_024596.5(MCPH1):c.2418C>A (p.Ala806=) rs2912016 0.37333
NM_001083962.2(TCF4):c.1941A>G (p.Ser647=) rs8766 0.37317
NM_000535.7(PMS2):c.1408C>T (p.Pro470Ser) rs1805321 0.37107
NM_000057.4(BLM):c.2555+7T>C rs3815003 0.37072
NM_001927.4(DES):c.1014G>C (p.Leu338=) rs12920 0.37027
NM_130384.3(ATRIP):c.*1632= rs11797 0.37009
NM_182961.4(SYNE1):c.24968G>C (p.Gly8323Ala) rs2252755 0.36980
NM_015102.5(NPHP4):c.2802C>T (p.Arg934=) rs3747992 0.36928
NM_004369.4(COL6A3):c.9206C>T (p.Thr3069Ile) rs1131296 0.36920
NM_004006.3(DMD):c.5234G>A (p.Arg1745His) rs1801187 0.36912
NM_031220.4(PITPNM3):c.1625-9G>A rs11654175 0.36838
NM_001927.4(DES):c.828C>T (p.Asp276=) rs1058261 0.36815
NM_001927.4(DES):c.1104G>A (p.Ala368=) rs1058284 0.36806
NM_000352.6(ABCC8):c.2117-3C>T rs1799854 0.36733
NM_004273.5(CHST3):c.1070G>A (p.Arg357Gln) rs3740129 0.36709
NM_004260.4(RECQL4):c.3014G>A (p.Arg1005Gln) rs4251691 0.36660
NM_003322.6(TULP1):c.776T>C (p.Ile259Thr) rs2064317 0.36637
NM_022437.3(ABCG8):c.-19T>G rs3806471 0.36621
NM_005591.4(MRE11):c.1225+19T>C rs641936 0.36577
G6PD:c.1455-13T>C rs2071429 0.36538
NM_012463.4(ATP6V0A2):c.-14C>T rs1139320 0.36505
NM_024105.4(ALG12):c.885A>G (p.Ala295=) rs8135963 0.36465
NM_000277.3(PAH):c.969+43G>T rs1522306 0.36369
NM_022455.5(NSD1):c.1482C>T (p.Cys494=) rs1363405 0.36334
NM_000104.4(CYP1B1):c.142C>G (p.Arg48Gly) rs10012 0.36324
NM_207352.4(CYP4V2):c.802-7C>T rs3817184 0.36293
NM_001845.6(COL4A1):c.19G>C (p.Val7Leu) rs9515185 0.36168
NM_001122769.3(LCA5):c.1967G>A (p.Gly656Asp) rs1875845 0.36167
NM_024809.5(TCTN2):c.1393+7C>T rs7298440 0.36136
NM_000287.4(PEX6):c.883-3T>C rs9986447 0.36088
NM_004260.4(RECQL4):c.738C>T (p.Ser246=) rs4244613 0.36043
NM_000410.4(HFE):c.340+4T>C rs2071303 0.35994
NM_006302.3(MOGS):c.877C>T (p.Pro293Ser) rs2268416 0.35953
NM_194318.4(B3GLCT):c.347+4C>T rs9564692 0.35942
NM_002435.3(MPI):c.345+15G>A rs11638130 0.35866
NM_001267550.2(TTN):c.65682A>G (p.Thr21894=) rs4894029 0.35796
NM_183050.4(BCKDHB):c.197-25A>G rs9448893 0.35785
NM_001235.5(SERPINH1):c.363C>G (p.Ser121=) rs650241 0.35781
NM_033337.3(CAV3):c.99C>T (p.Asn33=) rs1008642 0.35756
NM_030665.4(RAI1):c.493C>A (p.Pro165Thr) rs11649804 0.35747
NM_000428.3(LTBP2):c.2406T>C (p.Thr802=) rs699374 0.35704
NM_015311.3(OBSL1):c.580C>T (p.Leu194=) rs1061399 0.35689
NM_001267550.2(TTN):c.105384A>G (p.Ala35128=) rs3813250 0.35546
NM_001267550.2(TTN):c.83673T>C (p.Gly27891=) rs2366751 0.35531
NM_001267550.2(TTN):c.83323A>G (p.Ile27775Val) rs3829746 0.35516
NM_001080.3(ALDH5A1):c.538C>T (p.His180Tyr) rs2760118 0.35507
NM_017950.4(CCDC40):c.*15T>C rs2304853 0.35502
NM_000545.8(HNF1A):c.79A>C (p.Ile27Leu) rs1169288 0.35489
NM_001039141.3(TRIOBP):c.3885C>T (p.Ser1295=) rs739137 0.35439
NM_001035.3(RYR2):c.11963-11T>C rs790889 0.35417
NM_018055.5(NODAL):c.193+12C>T rs10999338 0.35409
NM_001267550.2(TTN):c.88187T>C (p.Ile29396Thr) rs9808377 0.35383
NM_017950.4(CCDC40):c.3210A>G (p.Thr1070=) rs56407805 0.35335
NM_198586.3(NHLRC1):c.332C>T (p.Pro111Leu) rs10949483 0.35277
NM_001369.3(DNAH5):c.9721-12A>T rs12655133 0.35219
NM_000104.4(CYP1B1):c.355G>T (p.Ala119Ser) rs1056827 0.35167
NM_000426.4(LAMA2):c.7845G>A (p.Pro2615=) rs2229850 0.35164
NM_001142800.2(EYS):c.6977G>A (p.Arg2326Gln) rs4710457 0.35152
NM_001267550.2(TTN):c.97795+6G>T rs3731750 0.35139
NM_001848.3(COL6A1):c.1462-36A>G rs2276255 0.35129
NM_024334.3(TMEM43):c.536T>C (p.Met179Thr) rs2340917 0.35127
NM_015102.5(NPHP4):c.3570A>G (p.Glu1190=) rs555164 0.35094
NM_001267550.2(TTN):c.64208C>T (p.Thr21403Ile) rs2042996 0.34979
NM_017739.4(POMGNT1):c.681A>G (p.Lys227=) rs2292487 0.34915
NM_000814.6(GABRB3):c.1080+15A>G rs3751582 0.34839
NM_001164508.2(NEB):c.7839G>C (p.Lys2613Asn) rs13013209 0.34676
NM_005343.4(HRAS):c.81T>C (p.His27=) rs12628 0.34645
NM_022124.6(CDH23):c.7055-16A>G rs4747193 0.34615
NM_022437.3(ABCG8):c.161A>G (p.Tyr54Cys) rs4148211 0.34608
NM_001848.3(COL6A1):c.1675-55C>T rs4819179 0.34598
NM_000528.4(MAN2B1):c.1010G>A (p.Arg337Gln) rs1133330 0.34583
NM_006017.3(PROM1):c.2374-6T>C rs6449209 0.34571
NM_001159773.2(CANT1):c.159T>C (p.Ala53=) rs8077024 0.34524
NM_002778.4(PSAP):c.1351-14A>G rs4747203 0.34512
NM_000046.5(ARSB):c.1072G>A (p.Val358Met) rs1065757 0.34419
NM_001123385.2(BCOR):c.1692A>G (p.Ala564=) rs6520618 0.34271
NM_016239.4(MYO15A):c.2152T>G (p.Trp718Gly) rs2955367 0.34123
NM_000245.4(MET):c.4092G>A (p.Pro1364=) rs41737 0.34093
NM_000245.4(MET):c.4017G>A (p.Ala1339=) rs2023748 0.34017
NM_206933.4(USH2A):c.12666A>G (p.Thr4222=) rs2797234 0.33929
NM_006302.3(MOGS):c.715G>A (p.Asp239Asn) rs1063588 0.33895
NM_001035.3(RYR2):c.464-8A>C rs10925391 0.33866
NM_201253.3(CRB1):c.71-12A>T rs12042179 0.33853
NM_000245.4(MET):c.3858C>T (p.Asp1286=) rs41736 0.33828
NM_001845.6(COL4A1):c.3183G>A (p.Gly1061=) rs874204 0.33827
NM_001845.6(COL4A1):c.3189A>T (p.Arg1063=) rs874203 0.33819
NM_000535.7(PMS2):c.705+17A>G rs62456182 0.33782
NM_001184.4(ATR):c.1815T>C (p.Asp605=) rs2227929 0.33689
NM_000169.3(GLA):c.1000-22C>T rs2071228 0.33579
NM_006363.6(SEC23B):c.1744-20T>A rs3736775 0.33572
NM_000540.3(RYR1):c.8190T>C (p.Asp2730=) rs2915951 0.33482
NM_153717.3(EVC):c.939+4C>T rs2286343 0.33466
NM_001134407.3(GRIN2A):c.2085G>C (p.Arg695=) rs9806806 0.33435
NM_000096.4(CP):c.2662-12T>C rs16861582 0.33387
NM_001457.4(FLNB):c.3469G>A (p.Asp1157Asn) rs1131356 0.33365
NM_024306.5(FA2H):c.229C>T (p.Leu77=) rs929881 0.33281
NM_000540.3(RYR1):c.7977G>A (p.Thr2659=) rs2229144 0.33092
NM_000540.3(RYR1):c.8118T>C (p.Ile2706=) rs2960340 0.33086
NM_004006.3(DMD):c.8027+11C>T rs2270672 0.33026
NM_015404.4(WHRN):c.117G>A (p.Val39=) rs2297815 0.33019
NM_006269.2(RP1):c.2953A>T (p.Asn985Tyr) rs2293869 0.33006
NM_001848.3(COL6A1):c.739-51C>T rs62215498 0.32957
NM_001848.3(COL6A1):c.2549G>A (p.Arg850His) rs1053312 0.32867
NM_002693.3(POLG):c.3105-11T>C rs2302084 0.32855
NM_001367624.2(ZNF469):c.8093T>A (p.Leu2698Gln) rs3812956 0.32763
NM_001044.5(SLC6A3):c.1215A>G (p.Ser405=) rs6347 0.32752
NM_000302.4(PLOD1):c.1206C>T (p.Asn402=) rs1130529 0.32745
NM_003907.3(EIF2B5):c.1759A>G (p.Ile587Val) rs843358 0.32719
NM_006019.4(TCIRG1):c.417+11A>G rs3808974 0.32688
NM_001848.3(COL6A1):c.2667G>A (p.Ala889=) rs1053315 0.32659
NM_004287.5(GOSR2):c.200G>A (p.Arg67Lys) rs197922 0.32616
NM_000540.3(RYR1):c.8589T>C (p.Ser2863=) rs2229146 0.32548
NM_001849.4(COL6A2):c.2184G>A (p.Val728=) rs2839114 0.32526
NM_032119.4(ADGRV1):c.5960C>T (p.Pro1987Leu) rs4916685 0.32486
NM_000540.3(RYR1):c.9186A>G (p.Pro3062=) rs2071089 0.32394
NM_001025389.2(AMPD3):c.1689T>C (p.Tyr563=) rs3741041 0.32346
NM_000179.3(MSH6):c.3438+14A>T rs2020911 0.32279
NM_006031.6(PCNT):c.721-7G>A rs2839217 0.32249
NM_004006.3(DMD):c.2168+13T>C rs228373 0.32216
NM_003630.3(PEX3):c.332-20C>G rs3762000 0.32211
NM_000540.3(RYR1):c.8816+17T>A rs2915959 0.32203
NM_006208.3(ENPP1):c.517A>C (p.Lys173Gln) rs1044498 0.32168
NM_000540.3(RYR1):c.8693-10G>C rs2915958 0.32159
NM_000540.3(RYR1):c.8337G>A (p.Glu2779=) rs2915952 0.32150
NM_022095.4(ZNF335):c.642C>T (p.Ser214=) rs3848719 0.32130
NM_001353108.3(CEP63):c.1067+7A>G rs11927068 0.32111
NM_000202.8(IDS):c.438C>T (p.Thr146=) rs1141608 0.32051
NM_153026.3(PRICKLE1):c.1899T>C (p.Phe633=) rs3747563 0.32044
NM_006031.6(PCNT):c.4197C>T (p.Asp1399=) rs3737438 0.32038
NM_001848.3(COL6A1):c.2796C>T (p.Ser932=) rs1053320 0.32005
NM_024426.6(WT1):c.213G>T (p.Pro71=) rs2234582 0.31689
NM_198904.4(GABRG2):c.588C>T (p.Asn196=) rs211037 0.31659
NM_015046.7(SETX):c.5563A>G (p.Thr1855Ala) rs2296871 0.31596
NM_015046.7(SETX):c.5811T>C (p.Asp1937=) rs2296869 0.31585
NM_080680.3(COL11A2):c.877-4T>A rs1799907 0.31476
NM_000168.6(GLI3):c.2993C>T (p.Pro998Leu) rs929387 0.31467
NM_020779.4(WDR35):c.2915A>G (p.Glu972Gly) rs1191778 0.31383
NM_003383.5(VLDLR):c.82+7G>A rs2219143 0.31376
NM_001848.3(COL6A1):c.2434+20G>A rs2236486 0.31361
NM_052845.4(MMAB):c.57C>A (p.Arg19=) rs10774774 0.31358
NM_052845.4(MMAB):c.56G>A (p.Arg19His) rs10774775 0.31347
NM_020436.5(SALL4):c.1860A>G (p.Thr620=) rs6021437 0.31314
NM_001848.3(COL6A1):c.1822+42G>C rs13053065 0.31288
NM_001127701.1(SERPINA1):c.710T>C (p.Val237Ala) rs6647 0.31278
NM_001267550.2(TTN):c.23099-3T>C rs2562830 0.31174
NM_000231.3(SGCG):c.*254G>A rs3751371 0.31172
NM_006765.4(TUSC3):c.309-6T>C rs1035972 0.31124
NM_001918.5(DBT):c.1210-9A>T rs34229137 0.31080
NM_000199.5(SGSH):c.1367G>A (p.Arg456His) rs7503034 0.31021
NM_025074.7(FRAS1):c.5366+13T>G rs2170899 0.31001
NM_000535.7(PMS2):c.2570G>C (p.Gly857Ala) rs1802683 0.30966
NM_032382.5(COG8):c.42A>G (p.Thr14=) rs11542583 0.30947
NM_018418.5(SPATA7):c.4G>A (p.Asp2Asn) rs4904448 0.30943
NM_000071.3(CBS):c.1080C>T (p.Ala360=) rs1801181 0.30942
NM_000541.5(SAG):c.1207G>A (p.Val403Ile) rs1046974 0.30851
NM_000159.4(GCDH):c.1173G>T (p.Gly391=) rs1060218 0.30844
NM_001370259.2(MEN1):c.1254C>T (p.Asp418=) rs2071313 0.30843
NM_007294.4(BRCA1):c.2082C>T (p.Ser694=) rs1799949 0.30810
NM_000528.4(MAN2B1):c.832C>G (p.Leu278Val) rs1054486 0.30800
NM_004333.6(BRAF):c.1929A>G (p.Gly643=) rs9648696 0.30796
NM_007294.4(BRCA1):c.3548A>G (p.Lys1183Arg) rs16942 0.30784
NM_014112.5(TRPS1):c.-9dup rs35329862 0.30691
NM_022132.5(MCCC2):c.904-12A>G rs277984 0.30658
NM_001297.5(CNGB1):c.1958-14A>C rs3991715 0.30656
NM_000016.6(ACADM):c.216+10T>C rs2275378 0.30596
NM_138694.4(PKHD1):c.9237G>A (p.Ala3079=) rs765525 0.30589
NM_020223.4(FAM20C):c.885A>G (p.Thr295=) rs141256626 0.30568
NM_201384.3(PLEC):c.*10C>T rs1065837 0.30524
NM_001360.3(DHCR7):c.626+15G>A rs736894 0.30458
NM_018136.5(ASPM):c.4449A>G (p.Lys1483=) rs2878749 0.30404
NM_002485.5(NBN):c.553G>C (p.Glu185Gln) rs1805794 0.30329
NM_007294.4(BRCA1):c.5152+66G>A rs3092994 0.30314
NM_014425.5(INVS):c.1235-5T>C rs2245216 0.30271
NM_001492.6(GDF1):c.353C>T (p.Ala118Val) rs4808863 0.30267
NM_001029883.3(PCARE):c.2112T>C (p.Asn704=) rs10200693 0.30236
NM_201384.3(PLEC):c.4413T>C (p.Ala1471=) rs35916068 0.30160
NM_012186.3(FOXE3):c.510C>T (p.Ala170=) rs34082359 0.30139
NM_032119.4(ADGRV1):c.9927T>G (p.Pro3309=) rs16869042 0.30112
NM_000255.4(MMUT):c.1595G>A (p.Arg532His) rs1141321 0.30110
NM_002485.5(NBN):c.1124+18C>T rs2234744 0.30095
NM_201400.4(EEF2KMT):c.*733_*734dup rs59332251 0.30086
NM_201384.3(PLEC):c.5907T>C (p.Ala1969=) rs2857829 0.29968
NM_201384.3(PLEC):c.4045-4A>G rs7002152 0.29962
NM_201384.3(PLEC):c.8495G>A (p.Arg2832His) rs6558407 0.29956
NM_201384.3(PLEC):c.3757-6A>G rs11136333 0.29944
NM_201384.3(PLEC):c.6441G>A (p.Ala2147=) rs7016416 0.29943
NM_201384.3(PLEC):c.3550T>C (p.Leu1184=) rs3135109 0.29936
NM_201384.3(PLEC):c.3746G>A (p.Arg1249Gln) rs11136334 0.29922
NM_201384.3(PLEC):c.4680G>A (p.Ala1560=) rs55836855 0.29922
NM_020822.3(KCNT1):c.1749G>A (p.Ala583=) rs17038714 0.29915
NM_201384.3(PLEC):c.7581A>C (p.Ala2527=) rs11778026 0.29910
NM_201384.3(PLEC):c.6170C>T (p.Ala2057Val) rs7002002 0.29901
NM_201384.3(PLEC):c.8253C>T (p.Asn2751=) rs11777402 0.29844
NM_001164508.2(NEB):c.6807+6T>G rs10930723 0.29833
NM_001267550.2(TTN):c.26091A>T (p.Leu8697=) rs2562836 0.29823
NM_001291867.2(NHS):c.4018T>C (p.Phe1340Leu) rs3747295 0.29823
NM_201384.3(PLEC):c.4455T>G (p.Ala1485=) rs56117011 0.29823
NM_000153.4(GALC):c.984G>A (p.Gln328=) rs12888666 0.29819
NM_201384.3(PLEC):c.5928G>A (p.Ala1976=) rs1140522 0.29794
NM_201384.3(PLEC):c.10665G>A (p.Thr3555=) rs6984820 0.29792
NM_001848.3(COL6A1):c.2434+55G>A rs2236487 0.29790
NM_182961.4(SYNE1):c.24825G>A (p.Pro8275=) rs2252748 0.29787
NM_138694.4(PKHD1):c.234C>T (p.Asp78=) rs9474143 0.29769
NM_001267550.2(TTN):c.26655C>T (p.Ser8885=) rs2562839 0.29759
NM_021098.3(CACNA1H):c.1919C>T (p.Pro640Leu) rs61734410 0.29755
NM_000158.4(GBE1):c.568A>G (p.Arg190Gly) rs2229519 0.29724
NM_001101426.4(CRPPA):c.55A>C (p.Ser19Arg) rs7782939 0.29616
NM_203486.3(DLL3):c.515T>G (p.Phe172Cys) rs8107127 0.29570
NM_000180.4(GUCY2D):c.154G>T (p.Ala52Ser) rs61749665 0.29501
NM_000271.5(NPC1):c.644A>G (p.His215Arg) rs1805081 0.29390
NM_020717.5(SHROOM4):c.3468A>G (p.Glu1156=) rs3747282 0.29345
NM_004239.4(TRIP11):c.5479G>A (p.Gly1827Ser) rs1051340 0.29281
NM_020365.5(EIF2B3):c.243C>T (p.Asp81=) rs11556200 0.29252
NM_201384.3(PLEC):c.1095T>C (p.Asp365=) rs11783799 0.29245
NM_012301.4(MAGI2):c.4329C>G (p.Pro1443=) rs13438302 0.29174
NM_007294.4(BRCA1):c.4308T>C (p.Ser1436=) rs1060915 0.29170
NM_201384.3(PLEC):c.4476G>A (p.Ala1492=) rs55646585 0.29155
NM_007294.4(BRCA1):c.3113A>G (p.Glu1038Gly) rs16941 0.29115
NM_001267550.2(TTN):c.25064C>A (p.Ala8355Glu) rs2627043 0.29094
NM_020436.5(SALL4):c.1520T>G (p.Leu507Arg) rs6126344 0.29053
NM_024334.3(TMEM43):c.504A>T (p.Lys168Asn) rs4685076 0.29043
NM_007294.4(BRCA1):c.2311T>C (p.Leu771=) rs16940 0.29035
NM_020631.6(PLEKHG5):c.713C>G (p.Thr238Ser) rs61741379 0.28900
NM_021120.4(DLG3):c.1145+586G>C rs12850410 0.28867
NM_006214.4(PHYH):c.636A>G (p.Thr212=) rs473407 0.28866
NM_000071.3(CBS):c.699C>T (p.Tyr233=) rs234706 0.28613
NM_001458.5(FLNC):c.3973C>T (p.Leu1325=) rs34373805 0.28610
NM_003839.4(TNFRSF11A):c.-9T>C rs1805033 0.28610
NM_005122.5(NR1I3):c.540C>T (p.Pro180=) rs2307424 0.28602
NM_000284.4(PDHA1):c.795A>G (p.Ala265=) rs1126565 0.28594
NM_147127.5(EVC2):c.3507C>T (p.His1169=) rs12511039 0.28547
NM_022124.6(CDH23):c.7073G>A (p.Arg2358Gln) rs4747194 0.28536
NM_001848.3(COL6A1):c.1957-11C>T rs8132521 0.28523
NM_022124.6(CDH23):c.6130G>A (p.Glu2044Lys) rs10466026 0.28442
NM_000059.4(BRCA2):c.3396A>G (p.Lys1132=) rs1801406 0.28273
NM_006059.4(LAMC3):c.1564C>T (p.Pro522Ser) rs869457 0.28273
NM_000104.4(CYP1B1):c.-1-12C>T rs2617266 0.28114
NM_003611.3(OFD1):c.1129+16A>G rs3815049 0.28069
NM_001111.5(ADAR):c.15+10G>T rs58655370 0.27999
NM_014989.7(RIMS1):c.1209G>A (p.Ala403=) rs114505309 0.27986
NM_001244008.2(KIF1A):c.864+16C>T rs2288750 0.27959
NM_000019.4(ACAT1):c.13G>C (p.Ala5Pro) rs3741056 0.27945
NM_147127.5(EVC2):c.1437A>G (p.Glu479=) rs13131655 0.27893
NM_000350.3(ABCA4):c.6285T>C (p.Asp2095=) rs1801555 0.27862
NM_012301.4(MAGI2):c.4269G>C (p.Pro1423=) rs2960452 0.27858
NM_020822.3(KCNT1):c.254+20T>C rs2385007 0.27844
NM_022124.6(CDH23):c.7139C>T (p.Pro2380Leu) rs4747195 0.27841
NM_001079802.2(FKTN):c.1026C>A (p.Leu342=) rs17309806 0.27837
NM_000090.4(COL3A1):c.2244T>C (p.Gly748=) rs1801184 0.27758
NM_032575.3(GLIS2):c.1311A>C (p.Ala437=) rs3810817 0.27719
NM_000322.5(PRPH2):c.*13C>T rs361524 0.27666
NM_000360.4(TH):c.977+8C>G rs12419447 0.27597
NM_032119.4(ADGRV1):c.11599G>A (p.Glu3867Lys) rs10062026 0.27574
NM_001079.4(ZAP70):c.1677G>A (p.Glu559=) rs3192177 0.27555
NM_138694.4(PKHD1):c.527+19T>C rs9474140 0.27509
NM_032409.3(PINK1):c.1562A>C (p.Asn521Thr) rs1043424 0.27338
NM_020631.6(PLEKHG5):c.2001T>C (p.Ser667=) rs730600 0.27319
NM_000719.7(CACNA1C):c.617+19T>C rs1544516 0.27158
NM_001128228.3(TPRN):c.559G>T (p.Ala187Ser) rs9411313 0.27092
NM_206965.2(FTCD):c.54+12G>A rs2277820 0.27049
NM_000046.5(ARSB):c.1191G>A (p.Pro397=) rs25413 0.27041
NM_000719.7(CACNA1C):c.617+17G>A rs1544515 0.27035
NM_018389.5(SLC35C1):c.-3A>G rs3808976 0.27016
NM_001100.4(ACTA1):c.130-5T>C rs11803533 0.26938
NM_001003722.2(GLE1):c.727A>G (p.Ile243Val) rs2275260 0.26894
NM_001122630.2(CDKN1C):c.522T>C (p.Ala174=) rs191294997 0.26852
NM_000334.4(SCN4A):c.3318+12C>A rs13341114 0.26769
NM_001048174.2(MUTYH):c.930G>C (p.Gln310His) rs3219489 0.26720
NM_000426.4(LAMA2):c.2799A>G (p.Gln933=) rs1027199 0.26612
NM_001009944.3(PKD1):c.8949-17A>G rs9928278 0.26586
NM_000531.6(OTC):c.137A>G (p.Lys46Arg) rs1800321 0.26575
NM_000302.4(PLOD1):c.295G>A (p.Ala99Thr) rs7551175 0.26545
NM_001164508.2(NEB):c.16705-18C>T rs61254943 0.26527
NM_004608.4(TBX6):c.1227G>A (p.Pro409=) rs2289292 0.26284
NM_003640.5(ELP1):c.2294G>A (p.Gly765Glu) rs2230792 0.26279
NM_006031.6(PCNT):c.2635A>G (p.Thr879Ala) rs2839227 0.26258
NM_001164508.2(NEB):c.10809G>C (p.Trp3603Cys) rs10172023 0.26237
NM_000545.8(HNF1A):c.1460G>A (p.Ser487Asn) rs2464196 0.26206
NM_024596.5(MCPH1):c.2215-15C>G rs11137040 0.26204
NM_024596.5(MCPH1):c.2482C>T (p.Pro828Ser) rs1057091 0.26146
NM_207122.2(EXT2):c.1080-18T>A rs11037882 0.26140
NM_001349206.2(LPIN1):c.192+17C>T rs10209969 0.26135
NM_000019.4(ACAT1):c.-9T>A rs3741055 0.26111
NM_001386140.1(MTTP):c.383T>C (p.Ile128Thr) rs3816873 0.26064
NM_000350.3(ABCA4):c.1268A>G (p.His423Arg) rs3112831 0.25928
NM_005422.4(TECTA):c.2256C>T (p.Ile752=) rs10502247 0.25910
NM_020361.5(CPA6):c.133T>C (p.Phe45Leu) rs10957393 0.25907
NM_000552.5(VWF):c.2880G>A (p.Arg960=) rs1800380 0.25897
NM_000195.5(HPS1):c.636C>T (p.Leu212=) rs1801287 0.25851
NM_003482.4(KMT2D):c.12510A>G (p.Pro4170=) rs3741622 0.25778
NM_004369.4(COL6A3):c.9494-26C>T rs13032404 0.25759
NM_001429.4(EP300):c.4618-18C>T rs2076578 0.25729
NM_000426.4(LAMA2):c.1856G>A (p.Arg619His) rs3816665 0.25723
NM_001194998.2(CEP152):c.3466+8G>C rs2306187 0.25704
NM_178510.2(ANKK1):c.2137G>A (p.Glu713Lys) rs1800497 0.25693
NM_001048166.1(STIL):c.2954A>G (p.His985Arg) rs13376679 0.25624
NM_001330078.2(NRXN1):c.3364+20T>C rs3213756 0.25608
NM_000052.7(ATP7A):c.2782-29C>A rs113968994 0.25602
NM_006642.5(SDCCAG8):c.1134A>T (p.Glu378Asp) rs2275155 0.25552
NM_020366.4(RPGRIP1):c.3097G>C (p.Glu1033Gln) rs3748361 0.25511
NM_000426.4(LAMA2):c.3411+13G>A rs3798663 0.25503
NM_004369.4(COL6A3):c.6369G>A (p.Leu2123=) rs2646254 0.25503
NM_198525.3(KIF7):c.3517+6C>T rs74251725 0.25419
NM_001853.4(COL9A3):c.1304C>A (p.Ala435Glu) rs751557 0.25404
NM_000235.4(LIPA):c.46A>C (p.Thr16Pro) rs1051338 0.25399
NM_001079802.2(FKTN):c.608G>A (p.Arg203Gln) rs34787999 0.25357
NM_005876.5(SPEG):c.6566C>T (p.Pro2189Leu) rs10755037 0.25298
NM_000089.4(COL1A2):c.246T>C (p.Asp82=) rs1800222 0.25224
NM_000138.5(FBN1):c.1875T>C (p.Asn625=) rs25458 0.25074
NM_006269.2(RP1):c.5071T>C (p.Ser1691Pro) rs414352 0.25064
NM_000545.8(HNF1A):c.864G>C (p.Gly288=) rs56348580 0.25042
NM_000512.5(GALNS):c.708C>T (p.His236=) rs1064315 0.24874
NM_004586.3(RPS6KA3):c.798C>A (p.Leu266=) rs2230488 0.24795
NM_000335.5(SCN5A):c.1673A>G (p.His558Arg) rs1805124 0.24768
NM_001164508.2(NEB):c.18294T>C (p.Tyr6098=) rs2288211 0.24726
NM_002653.5(PITX1):c.896G>C (p.Gly299Ala) rs479632 0.24653
NM_001004334.4(GPR179):c.909= (p.Val303=) rs9894059 0.24635
NM_000372.5(TYR):c.575C>A (p.Ser192Tyr) rs1042602 0.24593
NM_006269.2(RP1):c.2615G>A (p.Arg872His) rs444772 0.24558
NM_000052.7(ATP7A):c.2299G>C (p.Val767Leu) rs2227291 0.24533
NM_031433.4(MFRP):c.406G>A (p.Val136Met) rs3814762 0.24523
NM_001429.4(EP300):c.4452+20C>T rs6002271 0.24366
NM_053025.4(MYLK):c.4317T>C (p.Asp1439=) rs1254392 0.24353
NM_015046.7(SETX):c.5374+16C>T rs2296872 0.24325
NM_015046.7(SETX):c.5781+12dup rs3831154 0.24271
NM_000533.5(PLP1):c.609T>C (p.Asp203=) rs1126707 0.24238
NM_025074.7(FRAS1):c.3406G>A (p.Glu1136Lys) rs12512164 0.24213
NM_002180.3(IGHMBP2):c.2316C>T (p.Ser772=) rs546382 0.24174
NM_024649.5(BBS1):c.724-8G>C rs10896125 0.24158
NM_152419.3(HGSNAT):c.1377+20G>A rs17603428 0.24049
NM_198859.4(PRICKLE2):c.579G>A (p.Pro193=) rs17720698 0.24032
NM_001267550.2(TTN):c.79862C>T (p.Thr26621Met) rs3731746 0.24029
NM_182943.3(PLOD2):c.1500+12A>G rs73010484 0.23989
NM_000405.5(GM2A):c.582A>G (p.Ter194=) rs1048723 0.23979
NM_032119.4(ADGRV1):c.6012G>T (p.Leu2004Phe) rs16868972 0.23938
NM_133261.3(GIPC3):c.276G>A (p.Leu92=) rs8113232 0.23935
NM_000439.5(PCSK1):c.1993C>G (p.Gln665Glu) rs6234 0.23916
NM_001267550.2(TTN):c.67075G>A (p.Val22359Ile) rs2303838 0.23912
NM_152594.3(SPRED1):c.424-18G>A rs7179118 0.23890
NM_033337.3(CAV3):c.123T>C (p.Phe41=) rs13087941 0.23875
NM_000179.3(MSH6):c.540T>C (p.Asp180=) rs1800935 0.23857
NM_024105.4(ALG12):c.664+9G>C rs9616368 0.23841
NM_024105.4(ALG12):c.664+12A>G rs9616204 0.23839
NM_000016.6(ACADM):c.1161A>G (p.Val387=) rs1061337 0.23824
NM_000350.3(ABCA4):c.5682G>C (p.Leu1894=) rs1801574 0.23813
NM_170707.4(LMNA):c.1338T>C (p.Asp446=) rs505058 0.23806
NM_000297.4(PKD2):c.83G>C (p.Arg28Pro) rs1805044 0.23760
NM_024757.5(EHMT1):c.444T>C (p.Pro148=) rs3812497 0.23632
NM_000127.3(EXT1):c.1065C>T (p.Cys355=) rs11546829 0.23625
NM_000152.5(GAA):c.2133A>G (p.Thr711=) rs1800310 0.23591
NM_001130987.2(DYSF):c.5976A>C (p.Pro1992=) rs17718530 0.23571
NM_001127644.2(GABRA1):c.156T>C (p.Gly52=) rs1129647 0.23538
NM_031433.4(MFRP):c.492C>T (p.Tyr164=) rs36015759 0.23503
NM_004369.4(COL6A3):c.4533G>T (p.Gly1511=) rs2645774 0.23421
NM_000492.4(CFTR):c.4389G>A (p.Gln1463=) rs1800136 0.23407
NM_001267550.2(TTN):c.70830C>T (p.Ser23610=) rs12464787 0.23390
NM_001277115.2(DNAH11):c.5621+11A>T rs59447021 0.23311
NM_000540.3(RYR1):c.7614+10C>G rs2960323 0.23284
NM_015404.4(WHRN):c.1627-12G>A rs2274160 0.23283
NM_000070.3(CAPN3):c.706G>A (p.Ala236Thr) rs1801449 0.23274
NM_178138.6(LHX3):c.79+1975G>A rs2274116 0.23265
NM_000059.4(BRCA2):c.1114A>C (p.Asn372His) rs144848 0.23116
NM_002458.3(MUC5B):c.4797T>C (p.Ser1599=) rs2037089 0.23114
NM_000249.4(MLH1):c.655A>G (p.Ile219Val) rs1799977 0.23048
NM_001110556.2(FLNA):c.5850T>C (p.Ala1950=) rs2070825 0.22980
NM_201548.5(CERKL):c.239-12T>A rs6433923 0.22971
NM_000284.4(PDHA1):c.760-15C>A rs7058209 0.22904
NM_001384140.1(PCDH15):c.1138G>A (p.Gly380Ser) rs10825269 0.22813
NM_000439.5(PCSK1):c.2069G>C (p.Ser690Thr) rs6235 0.22796
NM_001291415.2(KDM6A):c.4161+14T>C rs5952682 0.22765
NM_004817.4(TJP2):c.2715C>T (p.Thr905=) rs2282336 0.22650
NM_004817.4(TJP2):c.2727G>A (p.Ala909=) rs2095876 0.22643
NM_000133.4(F9):c.580A>G (p.Thr194Ala) rs6048 0.22614
NM_006261.5(PROP1):c.424G>A (p.Ala142Thr) rs1800197 0.22589
NM_172364.5(CACNA2D4):c.1515A>G (p.Thr505=) rs60945277 0.22589
NM_000553.6(WRN):c.4099T>C (p.Cys1367Arg) rs1346044 0.22492
NM_020433.5(JPH2):c.1728C>G (p.Pro576=) rs74352869 0.22485
NM_006031.6(PCNT):c.5522A>G (p.Asn1841Ser) rs35940413 0.22440
NM_001429.4(EP300):c.2989A>G (p.Ile997Val) rs20551 0.22427
NM_005120.3(MED12):c.736-8A>C rs62609586 0.22423
NM_002180.3(IGHMBP2):c.2636C>A (p.Thr879Lys) rs17612126 0.22387
NM_152415.3(VPS37A):c.202T>C (p.Leu68=) rs11555738 0.22377
NM_000203.5(IDUA):c.352C>T (p.Leu118=) rs3755954 0.22368
NM_024577.4(SH3TC2):c.1402G>T (p.Ala468Ser) rs6875902 0.22262
NM_000443.4(ABCB4):c.711A>T (p.Ile237=) rs2109505 0.22260
NM_001382430.1(AKT1):c.726G>A (p.Glu242=) rs1130233 0.22241
NM_014141.6(CNTNAP2):c.2280A>G (p.Ser760=) rs10240503 0.22240
NM_004183.4(BEST1):c.1410G>A (p.Thr470=) rs149698 0.22214
NM_002471.4(MYH6):c.411G>A (p.Glu137=) rs2277474 0.22054
NM_006922.4(SCN3A):c.1441C>T (p.Leu481=) rs16850131 0.21998
NM_005120.3(MED12):c.3930A>C (p.Pro1310=) rs5030619 0.21992
NM_000440.3(PDE6A):c.331A>C (p.Arg111=) rs2277925 0.21963
NM_000276.4(OCRL):c.199+16C>G rs5977104 0.21795
NM_020366.4(RPGRIP1):c.1639G>T (p.Ala547Ser) rs10151259 0.21790
NM_014363.6(SACS):c.8853T>C (p.Val2951=) rs9552929 0.21755
NM_000255.4(MMUT):c.1676+77A>C rs9381786 0.21722
NM_001004311.3(FIGLA):c.*5T>A rs56135050 0.21715
NM_000548.5(TSC2):c.2546-12C>T rs13331451 0.21707
NM_133261.3(GIPC3):c.593-6C>T rs10426399 0.21701
NM_001004311.3(FIGLA):c.*7A>G rs56316086 0.21698
NM_014244.5(ADAMTS2):c.2959-17C>T rs2303641 0.21622
NM_006516.4(SLC2A1):c.45C>T (p.Ala15=) rs1385129 0.21537
NM_000195.5(HPS1):c.1599-15A>G rs2296435 0.21496
NM_001267550.2(TTN):c.78674T>C (p.Ile26225Thr) rs12463674 0.21485
NM_001034853.2(RPGR):c.29-15G>A rs6651585 0.21451
NM_006269.2(RP1):c.5008G>A (p.Ala1670Thr) rs446227 0.21425
NM_000262.3(NAGA):c.598-15C>T rs2854827 0.21339
NM_000404.4(GLB1):c.1233+8T>C rs13093698 0.21250
NM_198253.3(TERT):c.915G>A (p.Ala305=) rs2736098 0.21206
NM_000277.3(PAH):c.168+19T>C rs17842947 0.21168
NM_022436.3(ABCG5):c.1810C>G (p.Gln604Glu) rs6720173 0.21159
NM_004006.3(DMD):c.7096A>C (p.Lys2366Gln) rs1800275 0.21153
NM_000090.4(COL3A1):c.2092G>A (p.Ala698Thr) rs1800255 0.21080
NM_002653.5(PITX1):c.418C>A (p.Arg140=) rs1131611 0.20977
NM_000243.3(MEFV):c.605G>A (p.Arg202Gln) rs224222 0.20976
NM_000195.5(HPS1):c.1397+7G>C rs2296432 0.20947
NM_000195.5(HPS1):c.1397+8G>T rs2296433 0.20935
NM_000512.5(GALNS):c.634-19G>A rs12934499 0.20916
NM_001134363.3(RBM20):c.90G>A (p.Arg30=) rs35141404 0.20903
NM_000521.4(HEXB):c.362A>G (p.Lys121Arg) rs11556045 0.20835
NM_001100.4(ACTA1):c.809-35del rs59228224 0.20823
NM_006514.4(SCN10A):c.2884A>G (p.Ile962Val) rs57326399 0.20797
NM_020751.3(COG6):c.1074+18T>C rs9548882 0.20795
NM_004304.5(ALK):c.4165-6C>T rs17007646 0.20768
NM_006269.2(RP1):c.5175A>G (p.Gln1725=) rs441800 0.20759
NM_017636.4(TRPM4):c.-12G>A rs3760663 0.20754
NM_170707.4(LMNA):c.1698C>T (p.His566=) rs4641 0.20715
NM_000719.7(CACNA1C):c.3786C>T (p.Phe1262=) rs216008 0.20673
NM_001100.4(ACTA1):c.130-10G>C rs41271481 0.20670
NM_173660.5(DOK7):c.1382G>A (p.Gly461Asp) rs9684786 0.20663
NM_002180.3(IGHMBP2):c.2080C>T (p.Arg694Trp) rs2236654 0.20662
NM_020975.6(RET):c.337+9G>A rs2435351 0.20641
NM_001035.3(RYR2):c.8873A>G (p.Gln2958Arg) rs34967813 0.20632
NM_000017.4(ACADS):c.625G>A (p.Gly209Ser) rs1799958 0.20617
NM_198525.3(KIF7):c.154G>A (p.Asp52Asn) rs8179065 0.20556
NM_001145809.2(MYH14):c.3680+9C>T rs76579307 0.20534
NM_004369.4(COL6A3):c.3129C>T (p.Gly1043=) rs12622093 0.20507
NM_006343.3(MERTK):c.353G>A (p.Ser118Asn) rs13027171 0.20460
NM_000142.5(FGFR3):c.882T>C (p.Asn294=) rs2234909 0.20412
NM_006017.3(PROM1):c.2281-6C>G rs3815344 0.20394
NM_020975.6(RET):c.2608-24G>A rs2472737 0.20380
NM_005422.4(TECTA):c.2795T>C (p.Val932Ala) rs520805 0.20376
NM_014141.6(CNTNAP2):c.1777+10A>G rs2286127 0.20355
NM_001146079.2(CLDN14):c.687G>A (p.Thr229=) rs219780 0.20318
NM_000350.3(ABCA4):c.5836-11G>A rs1800739 0.20309
NM_000208.4(INSR):c.3255C>T (p.His1085=) rs1799817 0.20288
NM_014244.5(ADAMTS2):c.1238+18G>A rs2278222 0.20277
NM_021098.3(CACNA1H):c.1991T>C (p.Val664Ala) rs4984636 0.20272
NM_139343.3(BIN1):c.858-12C>A rs6720741 0.20254
NM_014244.5(ADAMTS2):c.1194C>T (p.Asp398=) rs2278221 0.20236
NM_000152.5(GAA):c.1581G>A (p.Arg527=) rs1042396 0.20175
NM_025009.5(CEP135):c.2305A>C (p.Ile769Leu) rs3214045 0.20167
NM_000430.4(PAFAH1B1):c.*17C>T rs6628 0.20094
NM_001844.5(COL2A1):c.504C>A (p.Gly168=) rs3737548 0.20086
NM_000368.5(TSC1):c.2392-35T>C rs11243931 0.20073
NM_005199.5(CHRNG):c.507-13C>T rs2853462 0.20012
NM_001037.5(SCN1B):c.40+15G>T rs72556351 0.19938
NM_000112.4(SLC26A2):c.2065A>T (p.Thr689Ser) rs3776070 0.19906
NM_022124.6(CDH23):c.5100C>T (p.Tyr1700=) rs10762480 0.19882
NM_000321.3(RB1):c.2664-10T>A rs3092904 0.19833
NM_001374385.1(ATP8B1):c.3532-15C>T rs12958967 0.19806
NM_000277.3(PAH):c.735G>A (p.Val245=) rs1042503 0.19782
NM_000543.5(SMPD1):c.1522G>A (p.Gly508Arg) rs1050239 0.19762
NM_000540.3(RYR1):c.2979C>T (p.Asn993=) rs2228070 0.19758
NM_000082.4(ERCC8):c.435T>C (p.Tyr145=) rs4647100 0.19656
NM_000350.3(ABCA4):c.5844A>G (p.Pro1948=) rs2275029 0.19626
NM_003477.3(PDHX):c.108T>C (p.Ser36=) rs1049307 0.19592
NM_003477.3(PDHX):c.67C>T (p.Arg23Cys) rs1049306 0.19588
NM_015404.4(WHRN):c.1318G>A (p.Ala440Thr) rs4978584 0.19569
NM_000124.4(ERCC6):c.3637A>G (p.Arg1213Gly) rs2228527 0.19565
NM_004985.5(KRAS):c.519T>C (p.Asp173=) rs1137282 0.19563
NM_006493.4(CLN5):c.956A>G (p.Lys319Arg) rs1800209 0.19521
NM_001008212.2(OPTN):c.102G>A (p.Thr34=) rs2234968 0.19474
NM_001130987.2(DYSF):c.6321+15C>T rs2559082 0.19470
NM_000744.7(CHRNA4):c.1758+14A>G rs3827020 0.19437
NM_000027.4(AGA):c.281+13T>G rs34241758 0.19395
NM_004565.3(PEX14):c.384+14A>T rs284238 0.19360
NM_005334.3(HCFC1):c.713-13C>T rs59607260 0.19358
NM_001414.4(EIF2B1):c.370-20A>G rs7298287 0.19278
NM_207346.3(TSEN54):c.114T>G (p.His38Gln) rs8079373 0.19277
NM_005334.3(HCFC1):c.4185G>A (p.Ala1395=) rs2071133 0.19260
NM_001378609.3(OTOGL):c.3451-20T>A rs11114396 0.19252
NM_004369.4(COL6A3):c.7092+26G>A rs2270656 0.19247
NM_000540.3(RYR1):c.4161-6T>C rs55845760 0.19230
NM_032634.4(PIGO):c.2004G>A (p.Leu668=) rs10814196 0.19210
NM_001184880.2(PCDH19):c.1627C>T (p.Leu543=) rs1953337 0.19198
NM_005802.5(TOPORS):c.2991T>C (p.Asp997=) rs12348918 0.19195
NM_016239.4(MYO15A):c.9486C>T (p.Asp3162=) rs8077577 0.19129
NM_000124.4(ERCC6):c.3289A>G (p.Met1097Val) rs2228526 0.19072
NM_152618.3(BBS12):c.1410C>T (p.Cys470=) rs13135445 0.19015
NM_001167.4(XIAP):c.*12A>G rs28382740 0.18976
NM_001130987.2(DYSF):c.3086-17G>A rs3764971 0.18932
NM_000124.4(ERCC6):c.4238A>G (p.Gln1413Arg) rs2228529 0.18890
NM_006859.4(LIAS):c.45+15G>A rs2687959 0.18886
NM_000440.3(PDE6A):c.465C>T (p.Asn155=) rs2277926 0.18879
NM_002180.3(IGHMBP2):c.-2C>T rs4930624 0.18778
NM_000478.6(ALPL):c.876A>G (p.Pro292=) rs3200255 0.18763
NM_000179.3(MSH6):c.116G>A (p.Gly39Glu) rs1042821 0.18742
NM_000110.4(DPYD):c.1627A>G (p.Ile543Val) rs1801159 0.18679
NM_001130987.2(DYSF):c.4026C>T (p.Asn1342=) rs11558179 0.18595
NM_173660.5(DOK7):c.1185C>T (p.Tyr395=) rs6850908 0.18472
NM_000478.6(ALPL):c.863-12C>G rs75829132 0.18464
NM_170784.3(MKKS):c.117C>T (p.Pro39=) rs16991547 0.18435
NM_001458.5(FLNC):c.5763T>C (p.Thr1921=) rs3816884 0.18399
NM_000392.5(ABCC2):c.1249G>A (p.Val417Ile) rs2273697 0.18388
NM_000059.4(BRCA2):c.3807T>C (p.Val1269=) rs543304 0.18381
NM_001010892.3(RSPH4A):c.1667G>A (p.Arg556His) rs6927567 0.18378
NM_000702.4(ATP1A2):c.1119G>A (p.Ser373=) rs1063125 0.18359
NM_170707.4(LMNA):c.861T>C (p.Ala287=) rs538089 0.18331
NM_170707.4(LMNA):c.1157+16G>A rs534807 0.18318
NM_004715.5(CTDP1):c.1461G>A (p.Pro487=) rs2126082 0.18278
NM_006031.6(PCNT):c.5631C>T (p.Ile1877=) rs16979162 0.18249
NM_173660.5(DOK7):c.887A>G (p.Gln296Arg) rs6811423 0.18249
NM_001039348.3(EFEMP1):c.518-13A>G rs3748959 0.18234
NM_207361.6(FREM2):c.1542C>T (p.Ala514=) rs12874397 0.18215
NM_014141.6(CNTNAP2):c.3248-4A>G rs3779031 0.18203
NM_173660.5(DOK7):c.1113A>C (p.Ser371=) rs6811856 0.18181
NM_006371.5(CRTAP):c.534C>T (p.Asp178=) rs4076086 0.18059
NM_002207.3(ITGA9):c.1839+49G>C rs2282485 0.17925
NM_147127.5(EVC2):c.52C>T (p.Leu18Phe) rs6820907 0.17921
NM_000478.6(ALPL):c.862+20G>T rs2275377 0.17895
NM_032638.5(GATA2):c.1018-19C>T rs11708606 0.17884
NM_000478.6(ALPL):c.787T>C (p.Tyr263His) rs3200254 0.17878
NM_032551.5(KISS1R):c.24A>G (p.Gly8=) rs10407968 0.17826
NM_001848.3(COL6A1):c.903+14C>A rs34495634 0.17795
NM_000240.4(MAOA):c.385A>C (p.Arg129=) rs1800464 0.17743
NM_012254.3(SLC27A5):c.149T>C (p.Met50Thr) rs35350976 0.17724
NM_001379200.1(TBX1):c.960A>G (p.Ala320=) rs41298840 0.17709
NM_001379200.1(TBX1):c.1216A>C (p.Asn406His) rs72646967 0.17704
NM_014425.5(INVS):c.-110T>G rs7024375 0.17693
NM_001379200.1(TBX1):c.447T>C (p.Phe149=) rs41298814 0.17676
NM_024079.5(ALG8):c.665A>G (p.Asn222Ser) rs665278 0.17617
NM_005199.5(CHRNG):c.1422C>T (p.Arg474=) rs2099489 0.17611
NM_000124.4(ERCC6):c.1196G>A (p.Gly399Asp) rs2228528 0.17598
NM_000350.3(ABCA4):c.6764G>T (p.Ser2255Ile) rs6666652 0.17582
NM_000057.4(BLM):c.3102G>A (p.Thr1034=) rs2227933 0.17570
NM_173660.5(DOK7):c.1134G>A (p.Ala378=) rs6831659 0.17563
NM_004369.4(COL6A3):c.6880-47T>C rs2646263 0.17514
NM_001849.4(COL6A2):c.1333-8T>C rs73159701 0.17496
NM_001164508.2(NEB):c.3879+20G>T rs12618063 0.17493
NM_000742.4(CHRNA2):c.351C>T (p.Asp117=) rs2565061 0.17492
NM_001164508.2(NEB):c.16911A>G (p.Pro5637=) rs33988153 0.17490
NM_015102.5(NPHP4):c.1441+13A>G rs7520105 0.17476
NM_014141.6(CNTNAP2):c.1659G>A (p.Ala553=) rs34592169 0.17471
NM_017791.3(FLVCR2):c.376C>T (p.Leu126=) rs8011292 0.17455
NM_001330078.2(NRXN1):c.511C>T (p.Leu171=) rs1045874 0.17452
NM_005045.4(RELN):c.10074A>G (p.Ala3358=) rs1062831 0.17444
NM_001384140.1(PCDH15):c.4671+1344A>C rs11003863 0.17427
NM_024301.5(FKRP):c.-34C>T rs3201779 0.17414
NM_020549.5(CHAT):c.358G>A (p.Ala120Thr) rs3810950 0.17408
NM_004463.3(FGD1):c.2091T>C (p.Thr697=) rs12011120 0.17397
NM_017866.6(TMEM70):c.100G>C (p.Ala34Pro) rs8075 0.17369
NM_017534.6(MYH2):c.5034C>T (p.Ala1678=) rs1042236 0.17365
NM_002473.6(MYH9):c.4876A>G (p.Ile1626Val) rs2269529 0.17342
NM_000540.3(RYR1):c.7872C>T (p.Arg2624=) rs1469698 0.17268
NM_206933.4(USH2A):c.11946G>A (p.Leu3982=) rs2820718 0.17214
NM_001289104.2(PRKCSH):c.871G>A (p.Ala291Thr) rs11557488 0.17152
NM_024408.4(NOTCH2):c.7341T>A (p.Gly2447=) rs6685892 0.17147
NM_000478.6(ALPL):c.863-7T>C rs74063111 0.17114
NM_020975.6(RET):c.2712C>G (p.Ser904=) rs1800863 0.17043
NM_001123385.2(BCOR):c.4977-4G>T rs5963725 0.16998
NM_006073.4(TRDN):c.1370-11C>A rs9401658 0.16989
NM_000182.5(HADHA):c.474C>T (p.Tyr158=) rs11552518 0.16973
NM_000203.5(IDUA):c.543T>C (p.Asn181=) rs6815946 0.16952
NM_000719.7(CACNA1C):c.522G>A (p.Ala174=) rs1544514 0.16949
NM_006516.4(SLC2A1):c.399C>T (p.Cys133=) rs11537641 0.16943
NM_012254.3(SLC27A5):c.157C>T (p.Arg53Trp) rs34415062 0.16909
NM_206933.4(USH2A):c.5013C>A (p.Gly1671=) rs56110889 0.16907
NM_001353214.3(DYM):c.-54+34G>C rs60901553 0.16905
NM_000203.5(IDUA):c.1360G>A (p.Val454Ile) rs73066479 0.16867
NM_005802.5(TOPORS):c.2319T>C (p.Ser773=) rs10971019 0.16858
NM_000203.5(IDUA):c.1467C>T (p.Arg489=) rs115929690 0.16835
NM_000203.5(IDUA):c.942G>C (p.Ala314=) rs6830825 0.16834
NM_000335.5(SCN5A):c.1141-3C>A rs41312433 0.16821
NM_000019.4(ACAT1):c.471C>A (p.Ser157=) rs35188041 0.16806
NM_000334.4(SCN4A):c.4539C>A (p.Ile1513=) rs56342400 0.16783
NM_000203.5(IDUA):c.1081G>A (p.Ala361Thr) rs6831280 0.16782
NM_000245.4(MET):c.1944A>G (p.Gln648=) rs13223756 0.16754
NM_022455.5(NSD1):c.6903G>C (p.Gly2301=) rs11740250 0.16701
NM_001692.4(ATP6V1B1):c.89C>T (p.Thr30Ile) rs17720303 0.16644
NM_020975.6(RET):c.2071G>A (p.Gly691Ser) rs1799939 0.16640
NM_024426.6(WT1):c.1122A>G (p.Arg374=) rs16754 0.16617
NM_000742.4(CHRNA2):c.65C>T (p.Thr22Ile) rs2472553 0.16614
NM_000152.5(GAA):c.642C>T (p.Ser214=) rs1800301 0.16610
NM_001377.3(DYNC2H1):c.11256+18C>T rs11225674 0.16562
NM_001376.5(DYNC1H1):c.624G>A (p.Pro208=) rs3818188 0.16558
NM_000203.5(IDUA):c.1164G>C (p.Thr388=) rs6836258 0.16540
NM_001142800.2(EYS):c.1922A>T (p.Glu641Val) rs17411795 0.16501
NM_001267550.2(TTN):c.104988C>T (p.Val34996=) rs3829748 0.16457
NM_000540.3(RYR1):c.7863C>T (p.His2621=) rs2229142 0.16420
NM_020247.5(COQ8A):c.117G>A (p.Ala39=) rs11549708 0.16388
NM_000289.6(PFKM):c.299G>A (p.Arg100Gln) rs2228500 0.16379
NM_000455.5(STK11):c.920+7G>C rs2075607 0.16357
NM_000346.4(SOX9):c.507C>T (p.His169=) rs2229989 0.16350
NM_006922.4(SCN3A):c.2547A>C (p.Val849=) rs62174900 0.16330
NM_000138.5(FBN1):c.3464-5G>A rs11853943 0.16287
NM_203288.2(RP9):c.629A>G (p.Lys210Arg) rs150987618 0.16255
NM_018136.5(ASPM):c.2174-20T>C rs4915344 0.16253
NM_000352.6(ABCC8):c.1947G>A (p.Lys649=) rs1799858 0.16150
NM_000426.4(LAMA2):c.6237G>A (p.Thr2079=) rs2297738 0.16113
NM_152618.3(BBS12):c.1380G>C (p.Val460=) rs13135766 0.16051
NM_001291415.2(KDM6A):c.3267G>A (p.Gln1089=) rs20539 0.16047
NM_005334.3(HCFC1):c.2283C>G (p.Thr761=) rs2071134 0.15977
NM_000368.5(TSC1):c.1335A>G (p.Glu445=) rs7862221 0.15974
NM_001386393.1(PANK2):c.1083-14_1083-9dup rs10679953 0.15963
NM_001384140.1(PCDH15):c.1304A>C (p.Asp435Ala) rs4935502 0.15952
NM_002878.4(RAD51D):c.234C>T (p.Ser78=) rs9901455 0.15951
NM_001136472.2(LITAF):c.274A>G (p.Ile92Val) rs4280262 0.15945
NM_152564.5(VPS13B):c.9492T>C (p.Ser3164=) rs36074608 0.15932
NM_152618.3(BBS12):c.1399G>A (p.Asp467Asn) rs13135778 0.15902
NM_004006.3(DMD):c.7728T>C (p.Asn2576=) rs1801188 0.15883
NM_001029883.3(PCARE):c.2374C>G (p.Leu792Val) rs17744093 0.15871
NM_152618.3(BBS12):c.1872A>G (p.Gln624=) rs13102440 0.15807
NM_000443.4(ABCB4):c.1954A>G (p.Arg652Gly) rs2230028 0.15795
NM_004183.4(BEST1):c.1557C>T (p.Ser519=) rs1800008 0.15775
NM_001378615.1(CC2D2A):c.124-6C>T rs1861049 0.15686
NM_000535.7(PMS2):c.903+144G>T rs12702462 0.15665
NM_001029883.3(PCARE):c.2499G>A (p.Pro833=) rs34253433 0.15556
NM_003361.4(UMOD):c.792G>A (p.Val264=) rs13335818 0.15554
NM_001267550.2(TTN):c.102519C>T (p.Gly34173=) rs2857265 0.15539
NM_001267550.2(TTN):c.93243C>T (p.Ala31081=) rs3731748 0.15537
NM_000532.5(PCCB):c.654+20T>C rs3821445 0.15527
NM_000057.4(BLM):c.3945C>T (p.Leu1315=) rs1063147 0.15526
NM_000057.4(BLM):c.3531C>A (p.Ala1177=) rs2227934 0.15517
NM_001458.5(FLNC):c.4431G>A (p.Leu1477=) rs2291568 0.15512
NM_001848.3(COL6A1):c.2669C>T (p.Ser890Leu) rs13051496 0.15479
NM_006371.5(CRTAP):c.213G>A (p.Leu71=) rs11558338 0.15448
NM_032409.3(PINK1):c.189C>T (p.Leu63=) rs45530340 0.15436
NM_022726.4(ELOVL4):c.895A>G (p.Met299Val) rs3812153 0.15428
NM_004380.3(CREBBP):c.3837-8C>T rs3025684 0.15427
NM_000030.3(AGXT):c.1020A>G (p.Ile340Met) rs4426527 0.15412
NM_022039.4(FBXW4):c.461T>A (p.Val154Glu) rs61382490 0.15406
NM_000368.5(TSC1):c.965T>C (p.Met322Thr) rs1073123 0.15387
NM_024426.6(WT1):c.345C>T (p.Pro115=) rs1799925 0.15374
NM_000392.5(ABCC2):c.-24C>T rs717620 0.15338
NM_000552.5(VWF):c.954T>A (p.Asn318Lys) rs1800387 0.15296
NM_022455.5(NSD1):c.2176T>C (p.Ser726Pro) rs28932178 0.15259
NM_000098.3(CPT2):c.1939A>G (p.Met647Val) rs1799822 0.15237
NM_004994.3(MMP9):c.2003G>A (p.Arg668Gln) rs17577 0.15237
NM_001319074.4(RAX2):c.217-8C>T rs79588413 0.15214
NM_000231.3(SGCG):c.228T>C (p.Asp76=) rs1800350 0.15152
NM_022124.6(CDH23):c.3009T>C (p.Ser1003=) rs10823829 0.15109
NM_001849.4(COL6A2):c.1734+35A>G rs55933135 0.15106
NM_000350.3(ABCA4):c.6730-3T>C rs1800717 0.15096
NM_001130987.2(DYSF):c.1276+11C>T rs35982795 0.15096
NM_000543.5(SMPD1):c.636T>C (p.Asp212=) rs7951904 0.15081
NM_003361.4(UMOD):c.885G>A (p.Gly295=) rs28544423 0.15053
NM_000531.6(OTC):c.299-8T>A rs73196229 0.15031
NM_206933.4(USH2A):c.13191G>A (p.Glu4397=) rs2009923 0.15011
NM_006214.4(PHYH):c.85C>T (p.Pro29Ser) rs28938169 0.15001
NM_004994.3(MMP9):c.649+3G>T rs2274755 0.14987
NM_004870.4(MPDU1):c.685G>A (p.Ala229Thr) rs10852891 0.14975
NM_201596.3(CACNB2):c.1965T>G (p.Asp655Glu) rs58225473 0.14908
NM_001354712.2(THRB):c.735C>T (p.Phe245=) rs3752874 0.14868
NM_002025.4(AFF2):c.1488G>A (p.Ser496=) rs12011040 0.14855
NM_001122769.3(LCA5):c.77A>C (p.Asp26Ala) rs34068461 0.14840
NM_001379270.1(CNGA1):c.340G>A (p.Asp114Asn) rs28642966 0.14829
NM_033109.5(PNPT1):c.1768A>G (p.Asn590Asp) rs7594497 0.14820
NM_004937.3(CTNS):c.504G>A (p.Thr168=) rs1800528 0.14800
NM_024757.5(EHMT1):c.1044G>A (p.Ser348=) rs1129767 0.14787
NM_024596.5(MCPH1):c.1428C>T (p.Phe476=) rs2920676 0.14726
NM_000179.3(MSH6):c.276A>G (p.Pro92=) rs1800932 0.14697
NM_201384.3(PLEC):c.3757-9A>G rs57461687 0.14687
NM_004463.3(FGD1):c.2136A>G (p.Pro712=) rs1126744 0.14669
NM_001363.5(DKC1):c.*6G>A rs1800533 0.14655
NM_001009944.3(PKD1):c.3372C>T (p.Ala1124=) rs75510884 0.14645
NM_017780.4(CHD7):c.6103+8C>T rs3763592 0.14641
NM_004369.4(COL6A3):c.*7G>C rs4663722 0.14594
NM_182961.4(SYNE1):c.17745C>T (p.His5915=) rs12664753 0.14557
NM_001009944.3(PKD1):c.3375C>T (p.Ser1125=) rs74331768 0.14545
NM_014254.3(RXYLT1):c.*18C>G rs1876465 0.14533
NM_004281.4(BAG3):c.451T>C (p.Cys151Arg) rs2234962 0.14532
NM_014208.3(DSPP):c.202A>T (p.Arg68Trp) rs36094464 0.14530
NM_001849.4(COL6A2):c.2979C>T (p.Arg993=) rs6652 0.14487
NM_001165967.2(HES7):c.402A>G (p.Lys134=) rs56066045 0.14472
NM_001025389.2(AMPD3):c.573G>A (p.Pro191=) rs16907852 0.14463
NM_000083.3(CLCN1):c.1401+17T>C rs7794560 0.14458
NM_001077365.2(POMT1):c.1082+16G>A rs59515295 0.14451
NM_001267550.2(TTN):c.97613G>A (p.Arg32538His) rs3731749 0.14445
NM_001130987.2(DYSF):c.396C>T (p.Pro132=) rs34603128 0.14353
NM_013382.7(POMT2):c.1654-6A>G rs4540995 0.14330
NM_015272.5(RPGRIP1L):c.3428C>G (p.Thr1143Ser) rs111775292 0.14328
NM_000126.4(ETFA):c.39+12C>G rs62027051 0.14273
NM_000282.4(PCCA):c.627A>G (p.Ala209=) rs538229 0.14245
NM_016335.6(PRODH):c.88C>T (p.Pro30Ser) rs3815655 0.14238
NM_170784.3(MKKS):c.1549C>T (p.Arg517Cys) rs1547 0.14159
NM_170784.3(MKKS):c.1595G>T (p.Gly532Val) rs1545 0.14147
NM_024757.5(EHMT1):c.3375-9A>C rs73578877 0.14146
NM_001127222.2(CACNA1A):c.3057G>A (p.Arg1019=) rs16025 0.14118
NM_020203.6(MEPE):c.988G>A (p.Val330Ile) rs17013285 0.14103
NM_170784.3(MKKS):c.534C>T (p.Ile178=) rs17852625 0.14082
NM_170784.3(MKKS):c.985+16T>G rs6133917 0.14080
NM_001297.5(CNGB1):c.2233C>A (p.Leu745Ile) rs10459809 0.14066
NM_024301.5(FKRP):c.135C>T (p.Ala45=) rs2287717 0.14031
NM_001369268.1(ACAN):c.3351C>T (p.Thr1117=) rs530742363 0.13982
NM_001849.4(COL6A2):c.2724A>G (p.Thr908=) rs9977394 0.13855
NM_139343.3(BIN1):c.957C>T (p.Ala319=) rs2276579 0.13837
NM_000436.4(OXCT1):c.414+7A>C rs7723992 0.13820
NM_001845.6(COL4A1):c.234+8C>T rs9521650 0.13807
NM_001127255.2(NLRP7):c.1460G>A (p.Gly487Glu) rs775881 0.13795
NM_002778.4(PSAP):c.1005+18C>T rs55829339 0.13764
NM_001130987.2(DYSF):c.888+11T>C rs13428076 0.13574
NM_001377.3(DYNC2H1):c.11649+12C>A rs79978663 0.13559
NM_018006.5(TRMU):c.28G>T (p.Ala10Ser) rs11090865 0.13476
NM_001845.6(COL4A1):c.4800C>T (p.Ser1600=) rs650724 0.13448
NM_000088.4(COL1A1):c.1930-14T>C rs2696247 0.13425
NM_018714.3(COG1):c.1473C>T (p.Ser491=) rs1551036 0.13412
NM_000512.5(GALNS):c.244+19C>T rs35137494 0.13406
NM_001267550.2(TTN):c.58436G>A (p.Arg19479His) rs2288569 0.13356
NM_001127222.2(CACNA1A):c.2975A>T (p.Glu992Val) rs16023 0.13336
NM_004565.3(PEX14):c.1032G>T (p.Gly344=) rs11539794 0.13336
NM_024757.5(EHMT1):c.1501+13G>T rs3125794 0.13335
NM_014846.4(WASHC5):c.417+11A>G rs2384917 0.13320
NM_212550.5(BLOC1S3):c.270G>A (p.Ala90=) rs758506 0.13313
NM_000350.3(ABCA4):c.6249C>T (p.Ile2083=) rs1801359 0.13311
NM_000350.3(ABCA4):c.6282+7G>A rs17110761 0.13306
NM_182961.4(SYNE1):c.22671C>T (p.Ile7557=) rs3798756 0.13297
NM_001267550.2(TTN):c.103781G>A (p.Arg34594His) rs3829747 0.13294
NM_024426.6(WT1):c.609C>T (p.Asn203=) rs2234583 0.13287
NM_001267550.2(TTN):c.74839C>T (p.Arg24947Cys) rs744426 0.13213
NM_000271.5(NPC1):c.387T>C (p.Tyr129=) rs12970899 0.13133
NM_181332.3(NLGN4X):c.933C>T (p.Thr311=) rs7049300 0.13090
NM_133433.4(NIPBL):c.5874C>T (p.Ser1958=) rs61748200 0.13068
NM_015386.3(COG4):c.171+18T>C rs16970260 0.13009
NM_018389.5(SLC35C1):c.718A>G (p.Ile240Val) rs7130656 0.12992
NM_001365536.1(SCN9A):c.2105-15G>A rs4525717 0.12980
NM_024675.4(PALB2):c.1676A>G (p.Gln559Arg) rs152451 0.12980
NM_004369.4(COL6A3):c.7596G>A (p.Lys2532=) rs2291795 0.12954
NM_138694.4(PKHD1):c.1234-10T>A rs4715272 0.12902
NM_004006.3(DMD):c.837G>A (p.Thr279=) rs1800265 0.12849
NM_006493.4(CLN5):c.-144C>T rs77416795 0.12832
NM_001853.4(COL9A3):c.50G>A (p.Gly17Glu) rs2294984 0.12823
NM_000179.3(MSH6):c.186C>A (p.Arg62=) rs1042820 0.12806
NM_022455.5(NSD1):c.1749G>A (p.Glu583=) rs3733874 0.12785
NM_001379081.2(FREM1):c.2587C>G (p.Leu863Val) rs7041710 0.12780
NM_003477.3(PDHX):c.-4C>G rs3818401 0.12767
NM_004006.3(DMD):c.1635A>G (p.Arg545=) rs5927083 0.12751
NM_006363.6(SEC23B):c.1467C>G (p.His489Gln) rs2273526 0.12707
NM_021625.5(TRPV4):c.789T>C (p.Asp263=) rs3742034 0.12664
NM_000030.3(AGXT):c.654G>A (p.Ser218=) rs33958047 0.12652
NM_000521.4(HEXB):c.619A>G (p.Ile207Val) rs10805890 0.12644
NM_022455.5(NSD1):c.1840G>T (p.Val614Leu) rs3733875 0.12636
NM_001025389.2(AMPD3):c.222-17T>C rs73409951 0.12537
NM_017780.4(CHD7):c.6276G>A (p.Glu2092=) rs2068096 0.12528
NM_000071.3(CBS):c.828+23A>G rs73220911 0.12482
NM_000169.3(GLA):c.640-16A>G rs2071397 0.12447
NM_033056.4(PCDH15):c.4581C>A (p.Pro1527=) rs10825114 0.12444
NM_004281.4(BAG3):c.1220C>T (p.Pro407Leu) rs3858340 0.12393
NM_000540.3(RYR1):c.10687-7C>T rs2960354 0.12378
NM_004281.4(BAG3):c.1002T>G (p.Pro334=) rs3858339 0.12375
NM_001849.4(COL6A2):c.1522-36T>C rs9976026 0.12352
NM_000535.7(PMS2):c.2007-4G>A rs1805326 0.12350
NM_000046.5(ARSB):c.1126G>A (p.Val376Met) rs1071598 0.12316
NM_030777.4(SLC2A10):c.616G>A (p.Ala206Thr) rs2235491 0.12316
NM_000089.4(COL1A2):c.87T>C (p.Thr29=) rs1801182 0.12315
NM_001364905.1(LRBA):c.3269C>G (p.Ala1090Gly) rs1782360 0.12249
NM_001077365.2(POMT1):c.699+52C>T rs3887873 0.12205
NM_001297.5(CNGB1):c.1644T>C (p.Asp548=) rs2161703 0.12201
NM_015046.7(SETX):c.1979C>G (p.Ala660Gly) rs882709 0.12168
NM_054012.4(ASS1):c.501C>T (p.His167=) rs10901072 0.12154
NM_023067.4(FOXL2):c.536C>G (p.Ala179Gly) rs7432551 0.12148
NM_000535.7(PMS2):c.2007-7C>T rs55954143 0.12135
NM_133433.4(NIPBL):c.2021A>G (p.Asn674Ser) rs3822471 0.12117
NM_001079802.2(FKTN):c.*2280T>C rs1024366 0.12115
NM_133433.4(NIPBL):c.3575-17A>G rs78827246 0.12109
NM_016579.4(CD320):c.268+19T>G rs2232780 0.12049
NM_000823.4(GHRHR):c.169G>A (p.Ala57Thr) rs4988496 0.12048
NM_019066.5(MAGEL2):c.1387G>C (p.Ala463Pro) rs2233063 0.12004
NM_000153.4(GALC):c.328+19T>A rs74337989 0.12002
NM_000104.4(CYP1B1):c.1358A>G (p.Asn453Ser) rs1800440 0.11965
NM_025114.4(CEP290):c.2055T>C (p.Ala685=) rs45465996 0.11965
NM_001352514.2(HLCS):c.1275C>T (p.Ser425=) rs1065758 0.11920
NM_152564.5(VPS13B):c.10219G>A (p.Gly3407Arg) rs6468694 0.11916
NM_001849.4(COL6A2):c.1521+21A>G rs1077182 0.11912
NM_181332.3(NLGN4X):c.-306+359G>A rs73457060 0.11893
NM_001849.4(COL6A2):c.1609-10C>T rs17357592 0.11879
NM_000208.4(INSR):c.783C>T (p.Asp261=) rs891087 0.11869
NM_001127222.2(CACNA1A):c.2751G>C (p.Glu917Asp) rs16022 0.11855
NM_001034853.2(RPGR):c.1164G>A (p.Ala388=) rs1801686 0.11812
NM_001127701.1(SERPINA1):c.374G>A (p.Arg125His) rs709932 0.11804
NM_001130987.2(DYSF):c.760-17C>T rs61104194 0.11792
NM_019109.5(ALG1):c.1287T>A (p.Asp429Glu) rs9745522 0.11789
NM_006031.6(PCNT):c.3487C>T (p.Arg1163Cys) rs7279204 0.11770
NM_023067.4(FOXL2):c.501C>T (p.Phe167=) rs61750361 0.11764
NM_015102.5(NPHP4):c.2643G>A (p.Ala881=) rs3747990 0.11763
NM_002225.5(IVD):c.723C>T (p.Asp241=) rs2229312 0.11757
NM_001077365.2(POMT1):c.699+53= rs2296949 0.11752
NM_015102.5(NPHP4):c.1926G>A (p.Glu642=) rs12120967 0.11732
NM_004544.4(NDUFA10):c.5C>G (p.Ala2Gly) rs11541494 0.11689
NM_002335.4(LRP5):c.2220C>T (p.Asn740=) rs2306862 0.11683
NM_001277115.2(DNAH11):c.5490G>A (p.Leu1830=) rs55666134 0.11626
NM_005765.3(ATP6AP2):c.765T>C (p.Tyr255=) rs7691 0.11555
NM_003283.6(TNNT1):c.47-13C>T rs11669534 0.11553
NM_001267550.2(TTN):c.92131G>A (p.Val30711Met) rs747122 0.11550
NM_006265.3(RAD21):c.688+8G>A rs2921787 0.11506
NM_030665.4(RAI1):c.4311T>C (p.Pro1437=) rs4925112 0.11504
NM_001853.4(COL9A3):c.93C>A (p.Pro31=) rs2273078 0.11502
NM_013382.7(POMT2):c.1117-20C>T rs7153929 0.11460
NM_005122.5(NR1I3):c.917+17A>C rs2307418 0.11459
NM_017617.5(NOTCH1):c.2740+12C>T rs36119806 0.11457
NM_000535.7(PMS2):c.2466T>C (p.Leu822=) rs10000 0.11447
NM_000153.4(GALC):c.742G>A (p.Asp248Asn) rs34362748 0.11424
NM_001287.6(CLCN7):c.1252G>A (p.Val418Met) rs12926089 0.11417
NM_000147.4(FUCA1):c.-12T>C rs2070954 0.11405
NM_002024.6(FMR1):c.990+14C>T rs25714 0.11379
NM_001267550.2(TTN):c.14525G>A (p.Arg4842Lys) rs2742347 0.11354
NM_006031.6(PCNT):c.8811A>G (p.Thr2937=) rs17371795 0.11349
NM_001164508.2(NEB):c.11077-4G>T rs878924060 0.11336
NM_001558.4(IL10RA):c.475A>G (p.Ser159Gly) rs3135932 0.11335
NM_153212.3(GJB4):c.*17A>G rs755931 0.11332
NM_020361.5(CPA6):c.746A>G (p.Asn249Ser) rs17343819 0.11318
NM_006031.6(PCNT):c.8418G>A (p.Ala2806=) rs9983522 0.11315
NM_000152.5(GAA):c.921A>T (p.Ala307=) rs1800303 0.11304
NM_000153.4(GALC):c.42G>C (p.Ala14=) rs112992946 0.11300
NM_000153.4(GALC):c.61G>C (p.Ala21Pro) rs111887056 0.11296
NM_000153.4(GALC):c.75C>A (p.Gly25=) rs111976362 0.11287
NM_001127255.2(NLRP7):c.1441G>A (p.Ala481Thr) rs61747414 0.11267
NM_014324.6(AMACR):c.717G>T (p.Gln239His) rs34677 0.11264
NM_001177316.2(SLC34A3):c.1094-10T>A rs35535797 0.11228
NM_001164277.2(SLC37A4):c.626+19C>T rs741811 0.11102
NM_003859.3(DPM1):c.679-7A>T rs60224379 0.11090
NM_001854.4(COL11A1):c.660T>C (p.Ile220=) rs71664966 0.11088
NM_033380.3(COL4A5):c.1331T>G (p.Ile444Ser) rs2272946 0.11020
NM_022124.6(CDH23):c.8895C>T (p.Pro2965=) rs11000009 0.10990
NM_033380.3(COL4A5):c.2055T>C (p.Leu685=) rs7884085 0.10905
NM_198586.3(NHLRC1):c.312T>C (p.His104=) rs115931931 0.10897
NM_001142800.2(EYS):c.3906C>T (p.His1302=) rs12663916 0.10887
NM_004817.4(TJP2):c.382C>A (p.Gln128Lys) rs41305539 0.10827
NM_000051.4(ATM):c.5557G>A (p.Asp1853Asn) rs1801516 0.10783
NM_021098.3(CACNA1H):c.2603+12C>T rs2745150 0.10774
NM_006416.5(SLC35A1):c.887-14T>C rs56136150 0.10768
NM_004369.4(COL6A3):c.6930+43G>C rs2646264 0.10764
NM_172364.5(CACNA2D4):c.3330C>T (p.Gly1110=) rs33912216 0.10702
NM_002335.4(LRP5):c.3989C>T (p.Ala1330Val) rs3736228 0.10701
NM_012434.5(SLC17A5):c.246G>A (p.Ala82=) rs472294 0.10691
NM_004646.4(NPHS1):c.3230A>G (p.Asn1077Ser) rs4806213 0.10689
NM_000388.4(CASR):c.2956G>T (p.Ala986Ser) rs1801725 0.10682
NM_054012.4(ASS1):c.876T>C (p.His292=) rs1057484 0.10667
NM_000180.4(GUCY2D):c.741C>T (p.His247=) rs3829789 0.10665
NM_000053.4(ATP7B):c.2866-13G>C rs7325983 0.10642
NM_014141.6(CNTNAP2):c.2256-6A>T rs10240482 0.10641
NM_001370259.2(MEN1):c.1621= (p.Thr541=) rs2959656 0.10623
NM_004369.4(COL6A3):c.6945C>T (p.Phe2315=) rs2646265 0.10608
NM_001142800.2(EYS):c.5244A>C (p.Leu1748Phe) rs57312007 0.10595
NM_000404.4(GLB1):c.458-11T>C rs34204221 0.10591
NM_001130823.3(DNMT1):c.979A>G (p.Ile327Val) rs2228612 0.10575
NM_012210.4(TRIM32):c.1254G>A (p.Val418=) rs1661300 0.10569
NM_021167.5(GATAD1):c.160G>A (p.Gly54Ser) rs10281879 0.10561
NM_005609.4(PYGM):c.1827+7A>G rs532747 0.10554
NM_000141.5(FGFR2):c.557T>C (p.Met186Thr) rs755793 0.10553
NM_000383.4(AIRE):c.1095+6G>A rs1800525 0.10544
NM_024757.5(EHMT1):c.3000C>T (p.Pro1000=) rs35943616 0.10540
NM_004369.4(COL6A3):c.7512C>T (p.Asn2504=) rs2646258 0.10531
NM_002024.6(FMR1):c.414G>A (p.Arg138=) rs25707 0.10515
NM_022455.5(NSD1):c.3705T>C (p.Asn1235=) rs28932181 0.10490
NM_000255.4(MMUT):c.1495G>A (p.Ala499Thr) rs2229385 0.10476
NM_000181.4(GUSB):c.1740C>T (p.Tyr580=) rs1061361 0.10447
NM_002529.4(NTRK1):c.2047-16T>C rs12076232 0.10434
NM_001848.3(COL6A1):c.1002+43A>G rs11702175 0.10415
NM_001267550.2(TTN):c.982C>T (p.Arg328Cys) rs16866538 0.10360
NM_006363.6(SEC23B):c.1298C>T (p.Pro433Leu) rs17807673 0.10334
NM_000113.3(TOR1A):c.646G>C (p.Asp216His) rs1801968 0.10301
NM_004183.4(BEST1):c.219C>A (p.Ile73=) rs1109748 0.10271
NM_000540.3(RYR1):c.7098C>T (p.Pro2366=) rs2229147 0.10248
NM_133497.4(KCNV2):c.759A>G (p.Pro253=) rs10967709 0.10241
NM_000271.5(NPC1):c.3797G>A (p.Arg1266Gln) rs1805084 0.10225
NM_006059.4(LAMC3):c.75C>T (p.Cys25=) rs13286358 0.10217
NM_005529.7(HSPG2):c.11340T>C (p.Asn3780=) rs2229488 0.10195
NM_020631.6(PLEKHG5):c.2163G>A (p.Glu721=) rs62639695 0.10172
NM_001142800.2(EYS):c.3936A>G (p.Thr1312=) rs12662610 0.10143
NM_005105.5(RBM8A):c.128-61C>A rs59285351 0.10136
NM_005045.4(RELN):c.2989C>G (p.Leu997Val) rs362691 0.10133
NM_000512.5(GALNS):c.199C>A (p.Leu67Met) rs11862754 0.10099
NM_000152.5(GAA):c.1374C>T (p.Tyr458=) rs1800305 0.10079
NM_018451.5(CENPJ):c.253C>A (p.Pro85Thr) rs9511510 0.10060
NM_005247.4(FGF3):c.69G>T (p.Ala23=) rs41538178 0.10055
NM_000147.5(FUCA1):c.4C>T (p.Arg2Trp) rs2070955 0.10031
NM_004369.4(COL6A3):c.9213C>T (p.His3071=) rs2270671 0.10029
NM_080605.4(B3GALT6):c.522G>C (p.Glu174Asp) rs12085009 0.10007
NM_001848.3(COL6A1):c.1002+43_1002+52del rs398123629 0.09993
NM_000231.3(SGCG):c.347G>A (p.Arg116His) rs17314986 0.09986
NM_000261.2(MYOC):c.227G>A (p.Arg76Lys) rs2234926 0.09970
NM_001130987.2(DYSF):c.951+4T>C rs11903960 0.09951
NM_021098.3(CACNA1H):c.1353C>T (p.Ser451=) rs9922076 0.09939
NM_021098.3(CACNA1H):c.1668C>T (p.Pro556=) rs2407083 0.09922
NM_001844.5(COL2A1):c.4213G>A (p.Gly1405Ser) rs2070739 0.09896
NM_000180.4(GUCY2D):c.61T>C (p.Trp21Arg) rs9905402 0.09880
NM_001142800.2(EYS):c.4352T>C (p.Ile1451Thr) rs62415828 0.09865
NM_001035.3(RYR2):c.849-8T>C rs16835237 0.09863
NM_001142800.2(EYS):c.4026C>T (p.Ser1342=) rs12663619 0.09859
NM_001849.4(COL6A2):c.663C>T (p.Pro221=) rs59531343 0.09859
NM_001142800.2(EYS):c.4593G>A (p.Glu1531=) rs62415825 0.09856
NM_000142.5(FGFR3):c.603T>C (p.Ile201=) rs2305181 0.09854
NM_001142800.2(EYS):c.4081A>G (p.Ile1361Val) rs17403955 0.09853
NM_001142800.2(EYS):c.3973C>G (p.Gln1325Glu) rs12663622 0.09847
NM_001142800.2(EYS):c.4543C>T (p.Arg1515Trp) rs62415827 0.09842
NM_001142800.2(EYS):c.4549A>G (p.Ser1517Gly) rs62415826 0.09832
NM_000492.4(CFTR):c.1210-13G>T rs10229820 0.09791
NM_080680.3(COL11A2):c.2681C>T (p.Pro894Leu) rs2855430 0.09772
NM_000540.3(RYR1):c.7500G>A (p.Ala2500=) rs2228072 0.09736
NM_004839.4(HOMER2):c.651+9G>A rs2306428 0.09727
NM_001287.6(CLCN7):c.1245T>C (p.Ile415=) rs12926669 0.09695
NM_201384.3(PLEC):c.9777T>A (p.Ser3259=) rs34644439 0.09690
NM_001378615.1(CC2D2A):c.2003+19C>T rs17476642 0.09677
NM_025193.4(HSD3B7):c.1040T>C (p.Leu347Pro) rs34212827 0.09674
NM_000256.3(MYBPC3):c.706A>G (p.Ser236Gly) rs3729989 0.09621
NM_003482.4(KMT2D):c.1426G>A (p.Ala476Thr) rs1064210 0.09584
NM_001384140.1(PCDH15):c.157+3A>G rs41274636 0.09581
NM_001142800.2(EYS):c.5617C>G (p.Leu1873Val) rs16895517 0.09577
NM_207346.3(TSEN54):c.1166A>C (p.Gln389Pro) rs77247739 0.09564
NM_000070.3(CAPN3):c.96T>C (p.Thr32=) rs1801496 0.09551
NM_024312.5(GNPTAB):c.18G>A (p.Leu6=) rs4764655 0.09551
NM_001034853.2(RPGR):c.1697G>A (p.Gly566Glu) rs1801688 0.09526
NM_001349206.2(LPIN1):c.552C>T (p.Ile184=) rs11538448 0.09460
NM_004817.4(TJP2):c.1672-20C>G rs80014470 0.09453
NM_000350.3(ABCA4):c.1269C>T (p.His423=) rs4147831 0.09402
NM_030665.4(RAI1):c.4530C>T (p.Pro1510=) rs35686634 0.09361
NM_024741.3(ZNF408):c.366C>G (p.Ala122=) rs4297419 0.09357
NM_001034853.2(RPGR):c.1572+11A>G rs62635008 0.09352
NM_138694.4(PKHD1):c.214C>T (p.Leu72=) rs6901799 0.09338
NM_001849.4(COL6A2):c.714+45C>T rs2070957 0.09326
NM_033380.3(COL4A5):c.2768-11A>G rs1006269 0.09324
NM_000393.5(COL5A2):c.3690A>C (p.Thr1230=) rs10197596 0.09320
NM_152564.5(VPS13B):c.7676T>C (p.Val2559Ala) rs7833870 0.09284
NM_000393.5(COL5A2):c.3720T>C (p.Tyr1240=) rs10208525 0.09281
NM_001034853.2(RPGR):c.1274G>A (p.Arg425Lys) rs1801687 0.09261
NM_153603.4(COG7):c.2103T>C (p.Pro701=) rs8057712 0.09257
NM_001367721.1(CASK):c.1034-6C>T rs73470569 0.09241
NM_001267550.2(TTN):c.7545C>T (p.Tyr2515=) rs2291306 0.09235
NM_001023570.4(IQCB1):c.1178T>A (p.Ile393Asn) rs1141528 0.09226
NM_001849.4(COL6A2):c.1735-30A>G rs73382466 0.09173
NM_002076.4(GNS):c.363G>A (p.Lys121=) rs2230291 0.09139
NM_000426.4(LAMA2):c.3412G>A (p.Val1138Met) rs2306942 0.09135
NM_000251.3(MSH2):c.1511-9A>T rs12998837 0.09123
NM_006363.6(SEC23B):c.1405-7C>T rs2273525 0.09089
NM_024105.4(ALG12):c.1177A>G (p.Ile393Val) rs3922872 0.09076
NM_024009.3(GJB3):c.798C>T (p.Asn266=) rs35983826 0.09056
NM_006073.4(TRDN):c.1408C>A (p.Leu470Met) rs6569336 0.09024
NM_000251.3(MSH2):c.367-168C>T rs17217758 0.08993
NM_001370658.1(BTD):c.1353T>C (p.Cys451=) rs3817641 0.08986
NM_001267550.2(TTN):c.24516C>T (p.Thr8172=) rs72648978 0.08958
NM_021098.3(CACNA1H):c.6179G>A (p.Arg2060His) rs1054644 0.08945
NM_000528.4(MAN2B1):c.1238A>G (p.Asn413Ser) rs35836657 0.08930
NM_000023.4(SGCA):c.933C>T (p.Val311=) rs1801191 0.08920
NM_001297.5(CNGB1):c.2732A>G (p.Lys911Arg) rs2303785 0.08900
NM_182914.3(SYNE2):c.1721T>C (p.Ile574Thr) rs9944035 0.08879
NM_001142800.2(EYS):c.7666A>T (p.Ser2556Cys) rs66462731 0.08861
NM_000512.5(GALNS):c.634-20C>T rs17603837 0.08794
NM_182914.3(SYNE2):c.12001T>C (p.Trp4001Arg) rs2792205 0.08782
NM_000540.3(RYR1):c.7527G>A (p.Val2509=) rs2071088 0.08780
NM_000719.7(CACNA1C):c.2436C>T (p.Asp812=) rs215976 0.08744
NM_182914.3(SYNE2):c.12002G>A (p.Trp4001Ter) rs2781377 0.08740
NM_000183.3(HADHB):c.1149+4A>T rs2303893 0.08727
NM_173500.4(TTBK2):c.-8G>A rs16957250 0.08720
NM_022124.6(CDH23):c.9873G>A (p.Thr3291=) rs2290021 0.08719
NM_000069.3(CACNA1S):c.4615C>T (p.Arg1539Cys) rs3850625 0.08709
NM_000388.4(CASR):c.2968A>G (p.Arg990Gly) rs1042636 0.08688
NM_001360.3(DHCR7):c.231C>T (p.Thr77=) rs4316537 0.08662
NM_153033.5(KCTD7):c.267G>A (p.Thr89=) rs3764904 0.08655
NM_000426.4(LAMA2):c.7906A>G (p.Thr2636Ala) rs2244008 0.08650
NM_201384.3(PLEC):c.3261-13G>A rs11991798 0.08644
NM_000297.4(PKD2):c.420G>A (p.Gly140=) rs2728118 0.08616
NM_201384.3(PLEC):c.12561C>T (p.Asp4187=) rs11998271 0.08588
NM_004380.3(CREBBP):c.939T>C (p.Asp313=) rs3025702 0.08570
NM_001876.4(CPT1A):c.963G>A (p.Glu321=) rs2229737 0.08543
NM_004985.5(KRAS):c.451-9G>A rs12313763 0.08467
NM_000334.4(SCN4A):c.2631T>C (p.Asp877=) rs79893125 0.08466
NM_033337.3(CAV3):c.27C>T (p.Leu9=) rs1974763 0.08452
NM_001876.4(CPT1A):c.968-8C>T rs2305507 0.08414
NM_012418.4(FSCN2):c.738T>C (p.Pro246=) rs34567655 0.08398
NM_006343.3(MERTK):c.2608G>A (p.Val870Ile) rs2230517 0.08379
NM_000426.4(LAMA2):c.156C>T (p.Ile52=) rs1140366 0.08370
NM_000251.3(MSH2):c.2006-6T>C rs2303428 0.08349
NM_000368.5(TSC1):c.2829C>T (p.Ala943=) rs4962081 0.08329
NM_006158.5(NEFL):c.1170-13T>C rs76347846 0.08329
NM_015046.7(SETX):c.7834A>G (p.Ser2612Gly) rs3739927 0.08329
NM_000033.4(ABCD1):c.1548G>A (p.Leu516=) rs41314153 0.08321
NM_001077418.3(TMEM231):c.813G>A (p.Val271=) rs2242406 0.08287
NM_019098.5(CNGB3):c.2264A>G (p.Glu755Gly) rs3735972 0.08214
NM_019098.5(CNGB3):c.2214A>G (p.Glu738=) rs3735970 0.08211
NM_003919.3(SGCE):c.391-3T>C rs17166384 0.08209
NM_001849.4(COL6A2):c.2803G>A (p.Gly935Arg) rs35548026 0.08193
NM_000426.4(LAMA2):c.4523+19C>T rs17057158 0.08168
NM_001110556.2(FLNA):c.4920G>A (p.Gly1640=) rs61741041 0.08115
NM_000110.4(DPYD):c.496A>G (p.Met166Val) rs2297595 0.08071
NM_001130987.2(DYSF):c.239+20G>A rs12470028 0.08061
NM_000091.5(COL4A3):c.1352A>G (p.His451Arg) rs11677877 0.08050
NM_004380.3(CREBBP):c.1676+18A>T rs130018 0.08039
NM_003001.5(SDHC):c.*123C>G rs3813632 0.08037
NM_000548.5(TSC2):c.2580T>C (p.Phe860=) rs13337626 0.08017
NM_001854.4(COL11A1):c.1308+19A>G rs34587338 0.08015
NM_001173990.3(TMEM216):c.-2G>T rs7107543 0.08005
NM_000426.4(LAMA2):c.4956C>G (p.Thr1652=) rs17057184 0.07998
NM_018100.4(EFHC1):c.1343T>C (p.Met448Thr) rs1266787 0.07947
NM_024105.4(ALG12):c.163-19C>A rs11705497 0.07946
NM_000199.5(SGSH):c.1081G>A (p.Val361Ile) rs9894254 0.07931
NM_024747.6(HPS6):c.516G>A (p.Gly172=) rs3737243 0.07919
NM_000709.4(BCKDHA):c.116C>A (p.Pro39His) rs11549936 0.07892
NM_020458.4(TTC7A):c.300C>T (p.Ser100=) rs61738825 0.07874
NM_007129.5(ZIC2):c.1059C>T (p.His353=) rs1831992 0.07872
NM_004463.3(FGD1):c.*36C>T rs2230265 0.07863
NM_000193.4(SHH):c.-125G>A rs9333594 0.07860
NM_000478.6(ALPL):c.1565T>C (p.Val522Ala) rs34605986 0.07856
NM_207352.4(CYP4V2):c.846T>C (p.Cys282=) rs3736456 0.07854
NM_006493.4(CLN5):c.-76A>G rs7987664 0.07840
NM_001845.6(COL4A1):c.1815T>C (p.Pro605=) rs61749897 0.07832
NM_000466.3(PEX1):c.-53C>G rs12386703 0.07798
NM_000553.6(WRN):c.340G>A (p.Val114Ile) rs2230009 0.07797
NM_201384.3(PLEC):c.9073G>A (p.Val3025Ile) rs35027700 0.07759
NM_005876.5(SPEG):c.1800G>C (p.Arg600=) rs60593157 0.07755
NM_001127222.2(CACNA1A):c.3310G>A (p.Gly1104Ser) rs16027 0.07737
NM_000748.3(CHRNB2):c.1338+14G>T rs4845378 0.07732
NM_206933.4(USH2A):c.7506G>A (p.Pro2502=) rs12404427 0.07727
NM_138694.4(PKHD1):c.2046A>C (p.Pro682=) rs4715271 0.07716
NM_000275.3(OCA2):c.913C>T (p.Arg305Trp) rs1800401 0.07659
NM_130837.3(OPA1):c.1935+16T>G rs9831772 0.07649
NM_153212.3(GJB4):c.611A>C (p.Glu204Ala) rs3738346 0.07637
NM_207361.6(FREM2):c.2250C>T (p.Asp750=) rs41292755 0.07615
NM_001024630.4(RUNX2):c.240G>A (p.Ala80=) rs6921145 0.07604
NM_000492.4(CFTR):c.869+11C>T rs1800503 0.07590
NM_003865.3(HESX1):c.374A>G (p.Asn125Ser) rs9878928 0.07568
NM_001849.4(COL6A2):c.2423-35C>A rs16978878 0.07566
NM_000179.3(MSH6):c.3557-185C>T rs3136357 0.07557
NM_001363.5(DKC1):c.1461C>T (p.Ala487=) rs1127051 0.07549
NM_004369.4(COL6A3):c.6653C>T (p.Pro2218Leu) rs36117715 0.07538
NM_000137.4(FAH):c.267G>C (p.Leu89=) rs33929922 0.07529
NM_015046.7(SETX):c.3147C>T (p.His1049=) rs3739921 0.07515
NM_021098.3(CACNA1H):c.2362C>T (p.Arg788Cys) rs3751664 0.07491
NM_004006.3(DMD):c.9225-603T>G rs111482252 0.07490
NM_004004.6(GJB2):c.-22-12C>T rs9578260 0.07478
NM_000492.4(CFTR):c.3870A>G (p.Pro1290=) rs1800130 0.07467
NM_000179.3(MSH6):c.642C>T (p.Tyr214=) rs1800937 0.07457
NM_000535.7(PMS2):c.59G>A (p.Arg20Gln) rs10254120 0.07445
NM_014365.3(HSPB8):c.582C>T (p.Thr194=) rs4628742 0.07444
NM_206965.2(FTCD):c.417G>A (p.Pro139=) rs61729391 0.07442
NM_012213.3(MLYCD):c.642-5C>T rs2278037 0.07436
NM_012213.3(MLYCD):c.642-12A>T rs2278036 0.07434
NM_005857.5(ZMPSTE24):c.651T>C (p.Asp217=) rs2076697 0.07398
NM_153603.4(COG7):c.1814C>T (p.Thr605Met) rs16940094 0.07374
NM_001386140.1(MTTP):c.1151A>C (p.Asp384Ala) rs17029215 0.07361
NM_000287.4(PEX6):c.2426C>T (p.Ala809Val) rs35830695 0.07353
NM_201384.3(PLEC):c.3378G>A (p.Glu1126=) rs11991764 0.07344
NM_000046.5(ARSB):c.1214-32T>C rs7721866 0.07298
NM_004369.4(COL6A3):c.8962A>G (p.Met2988Val) rs11690358 0.07295
NM_153717.3(EVC):c.1328G>A (p.Arg443Gln) rs35953626 0.07232
NM_000245.4(MET):c.534C>T (p.Ser178=) rs35775721 0.07211
NM_005670.4(EPM2A):c.-15C>A rs7771112 0.07210
NM_000528.4(MAN2B1):c.1441G>T (p.Ala481Ser) rs34544747 0.07202
NM_024757.5(EHMT1):c.1368C>T (p.Leu456=) rs45450992 0.07198
NM_152564.5(VPS13B):c.6963A>G (p.Val2321=) rs61753724 0.07191
NM_001111125.3(IQSEC2):c.4104G>A (p.Leu1368=) rs184087864 0.07175
NM_019109.5(ALG1):c.723C>T (p.His241=) rs7195893 0.07135
NM_002863.5(PYGL):c.153C>T (p.Asp51=) rs77316189 0.07133
NM_024009.3(GJB3):c.357C>T (p.Asn119=) rs41310442 0.07121
NM_001277115.2(DNAH11):c.2835A>G (p.Gln945=) rs17144747 0.07116
NM_025265.4(TSEN2):c.377G>A (p.Arg126His) rs33955793 0.07115
NM_147127.5(EVC2):c.-15G>A rs76269601 0.07112
NM_004369.4(COL6A3):c.7175-32G>A rs6725567 0.07108
NM_001852.4(COL9A2):c.1368+16A>G rs6684531 0.07104
NM_201384.3(PLEC):c.10920C>T (p.Tyr3640=) rs28455570 0.07092
NM_001194998.2(CEP152):c.691+9C>T rs77732888 0.07084
NM_000540.3(RYR1):c.6039A>G (p.Lys2013=) rs2228068 0.07074
NM_182961.4(SYNE1):c.12363G>T (p.Lys4121Asn) rs28385621 0.07062
NM_006204.4(PDE6C):c.282C>T (p.Asp94=) rs12781149 0.07060
NM_000168.6(GLI3):c.4071C>T (p.Tyr1357=) rs34089404 0.07043
NM_001287.6(CLCN7):c.822+17T>C rs12933110 0.07041
NM_001009944.3(PKD1):c.4195T>C (p.Trp1399Arg) rs116092985 0.07036
NM_000516.7(GNAS):c.433-18T>C rs3730170 0.07025
NM_001429.4(EP300):c.4026-17C>A rs2294976 0.07014
NM_144997.7(FLCN):c.397-13G>A rs3744123 0.07012
NM_172107.4(KCNQ2):c.2238T>A (p.Pro746=) rs1801471 0.07011
NM_025193.4(HSD3B7):c.804C>T (p.Tyr268=) rs17849880 0.07001
NM_001029883.3(PCARE):c.3668+14T>C rs72861052 0.06996
NM_001386393.1(PANK2):c.2T>A rs71647828 0.06976
NM_020365.5(EIF2B3):c.149-4A>G rs72887005 0.06955
NM_002471.4(MYH6):c.166G>A (p.Gly56Arg) rs28711516 0.06950
NM_206965.2(FTCD):c.*19C>T rs79622089 0.06920
NM_001184880.2(PCDH19):c.402C>A (p.Ile134=) rs41300169 0.06912
NM_019109.5(ALG1):c.800G>A (p.Ser267Asn) rs17849848 0.06910
NM_004369.4(COL6A3):c.8451A>G (p.Pro2817=) rs61729844 0.06907
NM_000875.5(IGF1R):c.4038C>T (p.Tyr1346=) rs17847203 0.06905
NM_004369.4(COL6A3):c.7842C>T (p.Ser2614=) rs34558385 0.06903
NM_022436.3(ABCG5):c.148C>T (p.Arg50Cys) rs6756629 0.06901
NM_004369.4(COL6A3):c.8820G>A (p.Thr2940=) rs11683438 0.06890
NM_021969.3(NR0B2):c.512G>C (p.Gly171Ala) rs6659176 0.06885
NM_000104.4(CYP1B1):c.729G>C (p.Val243=) rs9341249 0.06879
NM_022437.3(ABCG8):c.453G>A (p.Val151=) rs56132765 0.06877
NM_020717.5(SHROOM4):c.3414A>G (p.Glu1138=) rs6614552 0.06860
NM_014319.5(LEMD3):c.336C>T (p.Ala112=) rs61736594 0.06852
NM_033028.5(BBS4):c.-17C>T rs56368716 0.06844
NM_018006.5(TRMU):c.1176G>A (p.Thr392=) rs34591580 0.06826
NM_006005.3(WFS1):c.2322G>A (p.Lys774=) rs2230721 0.06809
NM_000521.4(HEXB):c.772-4A>G rs17561000 0.06806
NM_003283.6(TNNT1):c.35A>G (p.Glu12Gly) rs112562759 0.06801
NM_001852.4(COL9A2):c.1741G>A (p.Val581Ile) rs3737821 0.06797
NM_206965.2(FTCD):c.1313C>T (p.Ala438Val) rs61735841 0.06786
NM_057176.3(BSND):c.177+11G>A rs78904893 0.06761
NM_001365536.1(SCN9A):c.3802-4A>G rs75230218 0.06754
NM_203486.3(DLL3):c.425T>A (p.Leu142Gln) rs55741253 0.06752
NM_000057.4(BLM):c.2603C>T (p.Pro868Leu) rs2227935 0.06742
NM_000335.5(SCN5A):c.5841C>T (p.Ile1947=) rs13324293 0.06728
NM_004320.6(ATP2A1):c.1764+6del rs66716803 0.06704
NM_004369.4(COL6A3):c.7329C>T (p.Ala2443=) rs10084221 0.06701
NM_021101.5(CLDN1):c.-13G>C rs17429833 0.06682
NM_004369.4(COL6A3):c.9129C>T (p.Arg3043=) rs10201909 0.06660
NM_018714.3(COG1):c.1357G>C (p.Glu453Gln) rs62621249 0.06636
NM_002979.5(SCP2):c.609A>G (p.Glu203=) rs41294530 0.06615
NM_138694.4(PKHD1):c.10521C>T (p.His3507=) rs34460237 0.06613
NM_004369.4(COL6A3):c.7669-35C>T rs59232721 0.06612
NM_001012720.2(RGR):c.19C>T (p.Leu7=) rs11200938 0.06594
NM_001330078.2(NRXN1):c.3365-109930G>T rs13413205 0.06571
NM_000540.3(RYR1):c.5334G>T (p.Ser1778=) rs35566549 0.06569
NM_183050.4(BCKDHB):c.344-24C>T rs73479953 0.06567
NM_022437.3(ABCG8):c.55G>C (p.Asp19His) rs11887534 0.06566
NM_000540.3(RYR1):c.7323+20C>A rs2234709 0.06555
NM_000169.3(GLA):c.-12G>A rs3027585 0.06554
NM_006516.4(SLC2A1):c.966C>T (p.Val322=) rs2229680 0.06553
NM_020361.5(CPA6):c.518C>G (p.Ser173Cys) rs17853192 0.06550
NM_000540.3(RYR1):c.7089C>T (p.Cys2363=) rs2228071 0.06536
NM_201384.3(PLEC):c.4644G>A (p.Ala1548=) rs62642470 0.06519
NM_001291867.2(NHS):c.1714C>T (p.Pro572Ser) rs150688899 0.06491
NM_032575.3(GLIS2):c.1474A>G (p.Thr492Ala) rs8057701 0.06483
NM_002206.3(ITGA7):c.415-10C>T rs11171661 0.06475
NM_001130987.2(DYSF):c.1038C>T (p.His346=) rs36122356 0.06463
NM_181332.3(NLGN4X):c.1251G>C (p.Arg417=) rs61741754 0.06453
NM_000169.3(GLA):c.-10C>T rs2071225 0.06441
NM_213599.3(ANO5):c.879-18T>C rs7104758 0.06440
NM_021728.4(OTX2):c.*10G>A rs171978 0.06420
NM_000126.4(ETFA):c.512C>T (p.Thr171Ile) rs1801591 0.06414
NM_012233.3(RAB3GAP1):c.2290-17C>T rs56786863 0.06414
NM_000152.5(GAA):c.1754+12G>A rs2304840 0.06396
NM_000335.5(SCN5A):c.274-24C>T rs7627488 0.06378
NM_025074.7(FRAS1):c.3312T>C (p.Ser1104=) rs35774552 0.06352
NM_017617.5(NOTCH1):c.5639-12C>T rs11574908 0.06332
NM_003482.4(KMT2D):c.13689C>T (p.Pro4563=) rs11168830 0.06301
NM_173660.5(DOK7):c.1243C>T (p.Pro415Ser) rs16844464 0.06297
NM_002693.3(POLG):c.3708G>T (p.Gln1236His) rs3087374 0.06272
NM_000051.4(ATM):c.378T>A (p.Asp126Glu) rs2234997 0.06244
NM_003289.4(TPM2):c.*8G>A rs56249943 0.06243
NM_001191061.2(SLC25A22):c.448C>G (p.Leu150Val) rs111277421 0.06224
NM_000371.4(TTR):c.337-18G>C rs36204272 0.06198
NM_000381.4(MID1):c.1230C>T (p.Ser410=) rs16986145 0.06185
NM_206933.4(USH2A):c.2137G>C (p.Gly713Arg) rs696723 0.06184
NM_000287.4(PEX6):c.2364G>A (p.Val788=) rs2274515 0.06152
NM_001909.5(CTSD):c.173C>T (p.Ala58Val) rs17571 0.06134
NM_001927.4(DES):c.578+11G>A rs111548596 0.06130
NM_001849.4(COL6A2):c.1817-33C>T rs2276101 0.06112
NM_001035.3(RYR2):c.5656G>A (p.Gly1886Ser) rs3766871 0.06110
NM_001849.4(COL6A2):c.1770+4G>A rs9981981 0.06098
NM_001853.4(COL9A3):c.129C>T (p.Pro43=) rs2273079 0.06051
NM_000520.6(HEXA):c.806-48G>T rs73440586 0.06050
NM_000137.4(FAH):c.1056C>T (p.Ser352=) rs1801374 0.06041
NM_000520.6(HEXA):c.1074-43C>G rs16956759 0.06040
NM_001267550.2(TTN):c.71993G>A (p.Arg23998His) rs10164753 0.06031
NM_001367624.2(ZNF469):c.3516T>C (p.Arg1172=) rs111557381 0.06017
NM_001256715.2(DNAAF3):c.510A>G (p.Val170=) rs56726774 0.06016
NM_006343.3(MERTK):c.2916G>A (p.Ser972=) rs10205793 0.06012
NM_001267550.2(TTN):c.29042-16G>A rs10203085 0.05999
NM_004006.3(DMD):c.960+50del rs72470512 0.05999
NM_004456.5(EZH2):c.553G>C (p.Asp185His) rs2302427 0.05998
NM_000744.7(CHRNA4):c.51G>A (p.Leu17=) rs79739740 0.05992
NM_004715.5(CTDP1):c.186G>C (p.Gly62=) rs79644263 0.05976
NM_001008212.2(OPTN):c.293T>A (p.Met98Lys) rs11258194 0.05969
NM_022336.4(EDAR):c.1109T>C (p.Val370Ala) rs3827760 0.05968
NM_005045.4(RELN):c.6702T>C (p.Cys2234=) rs2075043 0.05938
NM_000487.6(ARSA):c.459C>T (p.His153=) rs6151412 0.05937
NM_001368894.2(PAX6):c.808-12C>T rs667773 0.05916
NM_006031.6(PCNT):c.5634C>T (p.Asp1878=) rs61735811 0.05866
NM_000531.6(OTC):c.718-14T>C rs55722856 0.05854
NM_001199397.3(NEK1):c.1830A>G (p.Glu610=) rs17544885 0.05849
NM_000489.6(ATRX):c.4659T>C (p.His1553=) rs25641 0.05840
NM_004560.4(ROR2):c.2154C>T (p.Pro718=) rs2230577 0.05836
NM_000540.3(RYR1):c.9690G>A (p.Leu3230=) rs2304151 0.05835
NM_001497.4(B4GALT1):c.597C>T (p.His199=) rs1065765 0.05834
NM_002206.3(ITGA7):c.810G>A (p.Gly270=) rs3847675 0.05834
NM_201384.3(PLEC):c.7726C>T (p.Leu2576=) rs11988293 0.05812
NM_006493.4(CLN5):c.173+18C>T rs112141862 0.05807
NM_201384.3(PLEC):c.5865G>A (p.Ala1955=) rs62642469 0.05798
NM_001267550.2(TTN):c.79062T>A (p.Gly26354=) rs3731744 0.05786
NM_007294.4(BRCA1):c.2077G>A (p.Asp693Asn) rs4986850 0.05782
NM_005219.5(DIAPH1):c.117+14C>T rs2074913 0.05773
NM_000152.5(GAA):c.2446G>A (p.Val816Ile) rs1800314 0.05752
NM_004369.4(COL6A3):c.3262A>C (p.Lys1088Gln) rs11896521 0.05751
NM_000535.7(PMS2):c.1454C>A (p.Thr485Lys) rs1805323 0.05742
NM_020631.6(PLEKHG5):c.2307G>A (p.Thr769=) rs3138150 0.05741
NM_201384.3(PLEC):c.7878G>A (p.Leu2626=) rs34803322 0.05741
NM_001278116.2(L1CAM):c.2209-6C>T rs7885771 0.05725
NM_001849.4(COL6A2):c.1672-37G>T rs79205686 0.05715
NM_000552.5(VWF):c.2220G>A (p.Met740Ile) rs2228317 0.05696
NM_001814.6(CTSC):c.1357A>G (p.Ile453Val) rs3888798 0.05696
NM_001876.4(CPT1A):c.823G>A (p.Ala275Thr) rs2229738 0.05682
NM_001849.4(COL6A2):c.1573-32C>T rs17272651 0.05679
NM_001267550.2(TTN):c.19301G>A (p.Ser6434Asn) rs11888217 0.05644
NM_001025389.2(AMPD3):c.553C>T (p.Arg185Trp) rs11042836 0.05626
NM_001256715.2(DNAAF3):c.327A>G (p.Arg109=) rs3848618 0.05626
NM_001256715.2(DNAAF3):c.529G>A (p.Gly177Ser) rs58824375 0.05620
NM_001849.4(COL6A2):c.1970-23G>C rs78764604 0.05599
NM_000245.4(MET):c.1131C>T (p.Ile377=) rs28444388 0.05590
NM_054012.4(ASS1):c.174+21A>G rs73541961 0.05590
NM_001039348.3(EFEMP1):c.1001-14C>T rs45535043 0.05588
NM_020631.6(PLEKHG5):c.2428G>A (p.Gly810Ser) rs76625876 0.05582
NM_000249.4(MLH1):c.1558+14G>A rs41562513 0.05554
NM_000152.5(GAA):c.*3G>A rs1800317 0.05534
NM_013382.7(POMT2):c.162G>T (p.Ala54=) rs2270420 0.05519
NM_001110556.2(FLNA):c.6642G>C (p.Val2214=) rs1064822 0.05512
NM_001379110.1(SLC9A6):c.1306+8G>A rs6654310 0.05510
NM_018979.4(WNK1):c.1994C>T (p.Thr665Ile) rs2286007 0.05498
NM_000046.5(ARSB):c.972A>G (p.Gly324=) rs72762973 0.05483
NM_001943.5(DSG2):c.2137G>A (p.Glu713Lys) rs79241126 0.05477
NM_001004334.4(GPR179):c.5605C>G (p.Gln1869Glu) rs4399578 0.05465
NM_000875.5(IGF1R):c.2298C>T (p.Thr766=) rs3743262 0.05461
NM_033087.4(ALG2):c.31T>C (p.Ser11Pro) rs11545137 0.05446
NM_033087.4(ALG2):c.1100T>C (p.Val367Ala) rs35626507 0.05444
NM_024757.5(EHMT1):c.1648-20C>T rs12341990 0.05440
NM_000528.4(MAN2B1):c.747C>T (p.Thr249=) rs61737536 0.05436
NM_024685.4(BBS10):c.1616C>T (p.Pro539Leu) rs35676114 0.05430
NM_000231.3(SGCG):c.*13C>T rs9510701 0.05421
NM_021098.3(CACNA1H):c.6123T>C (p.Gly2041=) rs3751889 0.05412
NM_001042631.3(SDHAF1):c.333C>G (p.Arg111=) rs76336581 0.05399
NM_025114.4(CEP290):c.5709+18C>A rs7973969 0.05367
NM_001205019.2(GK):c.1357+20T>C rs41311819 0.05349
NM_001848.3(COL6A1):c.1002+37A>G rs11702174 0.05344
NM_052845.4(MMAB):c.135-23T>C rs66580225 0.05340
NM_025114.4(CEP290):c.442-19T>A rs113132803 0.05334
NM_207361.6(FREM2):c.303C>A (p.Pro101=) rs8002488 0.05332
NM_004006.3(DMD):c.4234-13A>G rs41303181 0.05327
NM_170707.4(LMNA):c.810+13G>T rs11264444 0.05317
NM_000371.4(TTR):c.76G>A (p.Gly26Ser) rs1800458 0.05309
NM_002834.5(PTPN11):c.854-21C>T rs41279090 0.05308
NM_005876.5(SPEG):c.4566G>A (p.Glu1522=) rs45519033 0.05308
NM_000487.6(ARSA):c.585G>T (p.Trp195Cys) rs6151415 0.05295
NM_000070.3(CAPN3):c.606T>C (p.Ser202=) rs17593 0.05293
NM_001848.3(COL6A1):c.347G>A (p.Ser116Asn) rs11553519 0.05277
NM_006218.4(PIK3CA):c.1747-13T>C rs41273619 0.05277
NM_207361.6(FREM2):c.5003G>A (p.Arg1668His) rs1868463 0.05268
NM_201384.3(PLEC):c.9101C>T (p.Ala3034Val) rs35858667 0.05256
NM_001256789.3(CACNA1F):c.41C>T (p.Pro14Leu) rs6520408 0.05244
NM_201384.3(PLEC):c.8025C>T (p.Gly2675=) rs35139934 0.05241
NM_138694.4(PKHD1):c.8302+18A>G rs12529717 0.05228
NM_000016.6(ACADM):c.-34T>C rs59932454 0.05213
NM_000016.6(ACADM):c.119-20T>C rs74090724 0.05208
NM_000016.6(ACADM):c.351A>C (p.Thr117=) rs74090726 0.05204
NM_000283.4(PDE6B):c.915G>A (p.Thr305=) rs75695239 0.05186
NM_000512.5(GALNS):c.1177G>T (p.Ala393Ser) rs2303269 0.05170
NM_000512.5(GALNS):c.244+49C>T rs13334220 0.05168
NM_000404.4(GLB1):c.1594A>G (p.Ser532Gly) rs73826339 0.05158
NM_001848.3(COL6A1):c.428+40G>A rs71324475 0.05102
NM_207352.4(CYP4V2):c.327+11G>C rs62350517 0.05079
NM_006031.6(PCNT):c.5858G>A (p.Arg1953His) rs34268261 0.05068
NM_014384.3(ACAD8):c.1093-22T>C rs111405246 0.05027
NM_138694.4(PKHD1):c.1587T>C (p.Asn529=) rs62406036 0.05014
NM_138694.4(PKHD1):c.2489A>G (p.Asn830Ser) rs62406032 0.05010
NM_001999.4(FBN2):c.5675-9del rs112666443 0.05000
NM_004463.3(FGD1):c.-4G>C rs147035080 0.04998
NM_006005.3(WFS1):c.1367G>A (p.Arg456His) rs1801208 0.04977
NM_015272.5(RPGRIP1L):c.685G>A (p.Ala229Thr) rs61747071 0.04969
NM_001386140.1(MTTP):c.285G>C (p.Gln95His) rs61733139 0.04959
NM_014384.3(ACAD8):c.706-21G>A rs75844584 0.04957
NM_138694.4(PKHD1):c.11509G>A (p.Val3837Ile) rs9474034 0.04948
NM_018129.4(PNPO):c.347G>A (p.Arg116Gln) rs17679445 0.04944
NM_014384.3(ACAD8):c.841+7T>C rs77368661 0.04943
NM_000350.3(ABCA4):c.635G>A (p.Arg212His) rs6657239 0.04939
NM_021072.4(HCN1):c.1783+7dup rs56154381 0.04936
NM_006005.3(WFS1):c.1023C>T (p.Phe341=) rs56072215 0.04932
NM_000275.3(OCA2):c.1256G>A (p.Arg419Gln) rs1800407 0.04917
NM_004456.5(EZH2):c.2110+6T>G rs41277434 0.04917
NM_001004334.4(GPR179):c.1478= (p.His493=) rs4550493 0.04915
NM_054012.4(ASS1):c.597+8C>T rs77343702 0.04911
NM_024757.5(EHMT1):c.1869C>T (p.Asn623=) rs7868455 0.04901
NM_172250.3(MMAA):c.1089G>C (p.Gln363His) rs2270655 0.04892
NM_005477.3(HCN4):c.2556G>A (p.Pro852=) rs117819825 0.04888
NM_000535.7(PMS2):c.903+100T>G rs12534423 0.04879
NM_000535.7(PMS2):c.903+84C>T rs3815383 0.04877
NM_000203.5(IDUA):c.891C>T (p.Asn297=) rs114806891 0.04874
NM_001039958.2(MESP2):c.531G>A (p.Ala177=) rs75049807 0.04869
NM_000321.3(RB1):c.1390-14A>T rs9535023 0.04866
NM_000053.4(ATP7B):c.2973G>A (p.Thr991=) rs1801246 0.04852
NM_019109.5(ALG1):c.840G>C (p.Leu280=) rs12921879 0.04852
NM_005334.3(HCFC1):c.1085-12G>A rs3027893 0.04847
NM_000260.4(MYO7A):c.5156A>G (p.Tyr1719Cys) rs77625410 0.04825
NM_014384.3(ACAD8):c.1195+12C>T rs75333832 0.04799
NM_001267550.2(TTN):c.7830G>C (p.Met2610Ile) rs56142888 0.04798
NM_000214.3(JAG1):c.2612C>G (p.Pro871Arg) rs35761929 0.04795
NM_001048174.2(MUTYH):c.22G>A (p.Val8Met) rs3219484 0.04794
NM_022455.5(NSD1):c.6750G>A (p.Met2250Ile) rs35848863 0.04785
NM_022455.5(NSD1):c.6782T>C (p.Met2261Thr) rs34165241 0.04781
NM_002241.5(KCNJ10):c.811C>T (p.Arg271Cys) rs1130183 0.04770
NM_206933.4(USH2A):c.8656C>T (p.Leu2886Phe) rs41277200 0.04760
NM_001918.5(DBT):c.1210-10T>A rs183058253 0.04736
NM_001374353.1(GLI2):c.2889C>T (p.Ser963=) rs146811565 0.04735
NM_133642.5(LARGE1):c.2100C>T (p.Asn700=) rs17722172 0.04733
NM_000540.3(RYR1):c.6178G>T (p.Gly2060Cys) rs35364374 0.04719
NM_000540.3(RYR1):c.4024A>G (p.Ser1342Gly) rs34694816 0.04715
NM_000487.6(ARSA):c.1493G>A (p.Arg498His) rs6151428 0.04709
NM_015046.7(SETX):c.3455T>G (p.Phe1152Cys) rs3739922 0.04708
NM_007294.4(BRCA1):c.1067A>G (p.Gln356Arg) rs1799950 0.04695
NM_032638.5(GATA2):c.564G>C (p.Thr188=) rs34870876 0.04681
NM_031220.4(PITPNM3):c.1773+19C>T rs9913373 0.04671
NM_201384.3(PLEC):c.3717C>T (p.Ala1239=) rs112173070 0.04668
NM_000540.3(RYR1):c.3858T>C (p.Leu1286=) rs16972636 0.04660
NM_000264.5(PTCH1):c.3583A>T (p.Thr1195Ser) rs2236405 0.04656
NM_000540.3(RYR1):c.13317C>T (p.Ala4439=) rs113579185 0.04642
NM_000070.3(CAPN3):c.2380+12del rs28364538 0.04623
NM_021830.5(TWNK):c.1102G>A (p.Val368Ile) rs17113613 0.04615
NM_022124.6(CDH23):c.3625A>G (p.Thr1209Ala) rs41281314 0.04612
NM_053025.4(MYLK):c.3027G>A (p.Glu1009=) rs12172926 0.04612
NM_001114753.3(ENG):c.14C>T (p.Thr5Met) rs35400405 0.04608
NM_002863.5(PYGL):c.93T>C (p.Ser31=) rs17123244 0.04608
NM_001244008.2(KIF1A):c.4319-8C>T rs1529663 0.04602
NM_057176.3(BSND):c.127G>A (p.Val43Ile) rs34561376 0.04587
NM_012418.4(FSCN2):c.1446C>T (p.Asp482=) rs143561119 0.04578
NM_001853.4(COL9A3):c.307C>T (p.Arg103Trp) rs61734651 0.04577
NM_201384.3(PLEC):c.11601C>T (p.Asp3867=) rs75833626 0.04561
NM_173660.5(DOK7):c.753G>A (p.Ala251=) rs59932476 0.04559
NM_000512.5(GALNS):c.898+25C>G rs113936280 0.04554
NM_006516.4(SLC2A1):c.1065A>G (p.Leu355=) rs2228490 0.04552
NM_001367624.2(ZNF469):c.1285G>A (p.Ala429Thr) rs113937803 0.04541
NM_020717.5(SHROOM4):c.3168T>C (p.Arg1056=) rs61753881 0.04533
NM_005045.4(RELN):c.8136A>G (p.Leu2712=) rs3808039 0.04529
NM_000719.7(CACNA1C):c.5292C>T (p.Asn1764=) rs72552065 0.04512
NM_001146079.2(CLDN14):c.11C>T (p.Thr4Met) rs113831133 0.04508
NM_018136.5(ASPM):c.3269C>T (p.Ser1090Phe) rs16841081 0.04499
NM_000512.5(GALNS):c.599C>T (p.Thr200Met) rs7187889 0.04495
NM_138694.4(PKHD1):c.11714T>A (p.Ile3905Asn) rs2661488 0.04490
NM_024757.5(EHMT1):c.129A>T (p.Ala43=) rs76684726 0.04476
NM_000540.3(RYR1):c.10687-10C>T rs77592501 0.04475
NM_005477.3(HCN4):c.107G>A (p.Gly36Glu) rs143090627 0.04452
NM_018297.4(NGLY1):c.132-14T>C rs77109827 0.04444
NM_000277.3(PAH):c.1278T>C (p.Asn426=) rs59326968 0.04425
NM_000152.5(GAA):c.2780C>T (p.Thr927Ile) rs1800315 0.04402
NM_000441.2(SLC26A4):c.1826T>G (p.Val609Gly) rs17154335 0.04399
NM_001267550.2(TTN):c.26200+19A>T rs2562837 0.04396
NM_001365536.1(SCN9A):c.1469G>A (p.Ser490Asn) rs58022607 0.04393
NM_000535.7(PMS2):c.2006+6G>A rs111905775 0.04390
NM_001365536.1(SCN9A):c.1155G>T (p.Val385=) rs58465962 0.04390
NM_001267550.2(TTN):c.28662G>A (p.Arg9554=) rs2742332 0.04384
NM_000492.4(CFTR):c.-8G>C rs1800501 0.04368
NM_005343.4(HRAS):c.111+15G>A rs41258054 0.04363
NM_201384.3(PLEC):c.*19C>T rs11997227 0.04358
NM_000059.4(BRCA2):c.2971A>G (p.Asn991Asp) rs1799944 0.04357
NM_000512.5(GALNS):c.692C>G (p.Ala231Gly) rs34745339 0.04350
NM_000744.7(CHRNA4):c.1758+11C>T rs45442394 0.04350
NM_001130987.2(DYSF):c.2554A>G (p.Ile852Val) rs34671418 0.04349
NM_001164508.2(NEB):c.20467-4T>A rs199791504 0.04348
NM_001130987.2(DYSF):c.3575-17C>T rs13421969 0.04340
NM_003482.4(KMT2D):c.10671A>G (p.Pro3557=) rs61942218 0.04331
NM_000601.6(HGF):c.910G>A (p.Glu304Lys) rs5745687 0.04328
NM_013382.7(POMT2):c.1891+49C>T rs61990292 0.04323
NM_153240.5(NPHP3):c.2610G>A (p.Pro870=) rs16839515 0.04323
NM_000048.4(ASL):c.602+13C>T rs12536292 0.04315
NM_000942.4(PPIB):c.-171C>T rs112481305 0.04313
NM_003482.4(KMT2D):c.2438C>T (p.Pro813Leu) rs75226229 0.04312
NM_014140.4(SMARCAL1):c.945C>G (p.Ser315Arg) rs2066522 0.04294
NM_000337.6(SGCD):c.290G>A (p.Arg97Gln) rs45559835 0.04292
NM_004565.3(PEX14):c.1014C>T (p.Asp338=) rs2128414 0.04291
NM_001077365.2(POMT1):c.913G>A (p.Val305Ile) rs4740164 0.04243
NM_006363.6(SEC23B):c.1276G>A (p.Val426Ile) rs41309927 0.04225
NM_024757.5(EHMT1):c.642+38A>G rs72766927 0.04225
NM_000719.7(CACNA1C):c.4485T>C (p.Asp1495=) rs41276710 0.04216
NM_001083961.2(WDR62):c.180G>A (p.Val60=) rs61742664 0.04216
NM_052845.4(MMAB):c.288T>C (p.Ile96=) rs62000414 0.04206
NM_000540.3(RYR1):c.13671C>G (p.Ser4557=) rs35959206 0.04188
NM_032119.4(ADGRV1):c.18475A>G (p.Met6159Val) rs77469944 0.04185
NM_004820.5(CYP7B1):c.56T>C (p.Leu19Pro) rs72554624 0.04177
NM_001127511.3(APC):c.166-29015A>T rs75581138 0.04169
NM_206933.4(USH2A):c.9296A>G (p.Asn3099Ser) rs41277194 0.04165
NM_001110556.2(FLNA):c.374-19G>A rs2070817 0.04163
NM_001029896.2(WDR45):c.235+18G>T rs55727094 0.04158
NM_002834.5(PTPN11):c.1093-9C>A rs12301915 0.04151
NM_001367624.2(ZNF469):c.1143C>A (p.Pro381=) rs74032864 0.04134
NM_000282.4(PCCA):c.1423A>G (p.Ile475Val) rs35719359 0.04130
NM_000350.3(ABCA4):c.5603A>T (p.Asn1868Ile) rs1801466 0.04126
NM_003482.4(KMT2D):c.14251+18T>C rs74830946 0.04121
NM_033343.4(LHX4):c.450C>T (p.Asn150=) rs16855642 0.04109
NM_001256789.3(CACNA1F):c.2673+3G>A rs41312124 0.04106
NM_003482.4(KMT2D):c.14238G>A (p.Arg4746=) rs75340924 0.04096
NM_001849.4(COL6A2):c.714+29G>A rs11089047 0.04085
NM_153704.6(TMEM67):c.2892A>C (p.Thr964=) rs16916221 0.04084
NM_017780.4(CHD7):c.7356A>G (p.Thr2452=) rs2272727 0.04082
NM_001110556.2(FLNA):c.3035C>T (p.Ser1012Leu) rs17091204 0.04081
NM_004552.3(NDUFS5):c.*18G>A rs6981 0.04078
NM_005045.4(RELN):c.1596G>A (p.Gln532=) rs41276154 0.04078
NM_001267550.2(TTN):c.28313G>A (p.Arg9438Gln) rs72648998 0.04075
NM_001267550.2(TTN):c.76343G>A (p.Ser25448Asn) rs3813243 0.04071
NM_001077365.2(POMT1):c.1233C>A (p.Asp411Glu) rs11243406 0.04069
NM_206933.4(USH2A):c.6587G>C (p.Ser2196Thr) rs79444516 0.04057
NM_003816.3(ADAM9):c.78C>A (p.Val26=) rs148707472 0.04055
NM_014208.3(DSPP):c.727G>A (p.Asp243Asn) rs3750025 0.04053
NM_020223.4(FAM20C):c.1672C>T (p.Arg558Trp) rs62644536 0.04053
NM_000152.3(GAA):c.2065G>A (p.Glu689Lys) rs1800309 0.04051
NM_001110556.2(FLNA):c.5290G>A (p.Ala1764Thr) rs57108893 0.04049
NM_006302.3(MOGS):c.184G>A (p.Val62Met) rs79181168 0.04027
NM_000053.4(ATP7B):c.3009G>A (p.Ala1003=) rs1801247 0.04023
NM_000487.6(ARSA):c.1149C>T (p.Asp383=) rs6151425 0.04013
NM_018965.4(TREM2):c.632T>C (p.Leu211Pro) rs2234256 0.04010
NM_000231.3(SGCG):c.703-18T>C rs9580603 0.04002
NM_001191061.2(SLC25A22):c.561C>T (p.Tyr187=) rs77117049 0.03987
NM_198525.3(KIF7):c.-5T>G rs62021460 0.03972
NM_006343.3(MERTK):c.61+19G>A rs115821982 0.03962
NM_201384.3(PLEC):c.5583G>A (p.Ala1861=) rs75586449 0.03960
NM_139343.3(BIN1):c.894G>A (p.Ser298=) rs2228955 0.03955
NM_000046.5(ARSB):c.1151G>A (p.Ser384Asn) rs25414 0.03947
NM_012186.3(FOXE3):c.-14G>A rs181190356 0.03946
NM_000336.3(SCNN1B):c.1325G>T (p.Gly442Val) rs1799980 0.03941
NM_001378615.1(CC2D2A):c.1127A>C (p.Glu376Ala) rs16892095 0.03933
NM_001267550.2(TTN):c.102833G>T (p.Gly34278Val) rs3731752 0.03923
NM_000154.2(GALK1):c.189G>A (p.Leu63=) rs7211385 0.03914
NM_002230.4(JUP):c.425G>A (p.Arg142His) rs41283425 0.03910
NM_138694.4(PKHD1):c.3756G>C (p.Leu1252=) rs9689306 0.03897
NM_000153.4(GALC):c.550C>T (p.Arg184Cys) rs1805078 0.03877
NM_000540.3(RYR1):c.10218C>T (p.Tyr3406=) rs41274330 0.03876
NM_000059.4(BRCA2):c.10234A>G (p.Ile3412Val) rs1801426 0.03864
NM_133379.5(TTN):c.15252T>C (p.Tyr5084=) rs61233923 0.03860
NM_000525.4(KCNJ11):c.808C>G (p.Leu270Val) rs1800467 0.03859
NM_001035.3(RYR2):c.13564-41A>G rs114289907 0.03849
NM_001165963.4(SCN1A):c.2176+17A>G rs59251406 0.03846
NM_022124.6(CDH23):c.6847G>A (p.Val2283Ile) rs41281334 0.03832
NM_207391.3(RGS9BP):c.39C>G (p.Leu13=) rs3826926 0.03826
NM_000334.4(SCN4A):c.1167T>C (p.Tyr389=) rs16947296 0.03818
NM_005529.7(HSPG2):c.6402G>A (p.Val2134=) rs12742444 0.03814
NM_005422.4(TECTA):c.624+11C>G rs73599492 0.03810
NM_005633.4(SOS1):c.195A>C (p.Arg65=) rs7609455 0.03809
NM_033056.4(PCDH15):c.5707A>G (p.Ile1903Val) rs79854148 0.03803
NM_000110.4(DPYD):c.2194G>A (p.Val732Ile) rs1801160 0.03794
NM_020975.6(RET):c.2508C>T (p.Ser836=) rs1800862 0.03791
NM_001165963.4(SCN1A):c.3723T>C (p.Tyr1241=) rs36031496 0.03789
NM_000275.3(OCA2):c.2244+18A>G rs41304383 0.03776
NM_130837.3(OPA1):c.2778+11C>G rs111688935 0.03759
NM_005045.4(RELN):c.8508C>T (p.Phe2836=) rs2229862 0.03751
NM_001195263.2(PDZD7):c.3092G>A (p.Arg1031His) rs72838683 0.03743
NM_000512.5(GALNS):c.846C>T (p.Phe282=) rs35232749 0.03726
NM_201384.3(PLEC):c.718+10C>T rs12545876 0.03717
NM_004715.5(CTDP1):c.1995G>A (p.Ala665=) rs11549119 0.03715
NM_201384.3(PLEC):c.11599G>C (p.Asp3867His) rs62642465 0.03714
NM_003923.3(FOXH1):c.363G>C (p.Arg121=) rs80356380 0.03705
NM_000295.5(SERPINA1):c.840T>C (p.Asp280=) rs1049800 0.03703
NM_001267550.2(TTN):c.51482C>T (p.Ala17161Val) rs16866412 0.03700
NM_000059.4(BRCA2):c.2229T>C (p.His743=) rs1801499 0.03698
NM_002529.4(NTRK1):c.1838G>T (p.Gly613Val) rs6339 0.03698
NM_201384.3(PLEC):c.6314C>T (p.Ala2105Val) rs74772299 0.03697
NM_002529.4(NTRK1):c.1810C>T (p.His604Tyr) rs6336 0.03696
NM_000512.5(GALNS):c.510T>C (p.Tyr170=) rs3743544 0.03694
NM_000059.4(BRCA2):c.865A>C (p.Asn289His) rs766173 0.03693
NM_000059.4(BRCA2):c.1365A>G (p.Ser455=) rs1801439 0.03688
NM_002890.3(RASA1):c.1777-14T>A rs36000817 0.03681
NM_001122630.2(CDKN1C):c.567A>G (p.Pro189=) rs529326848 0.03671
NM_000543.5(SMPD1):c.714A>G (p.Ala238=) rs2682091 0.03664
NM_201384.3(PLEC):c.2548G>A (p.Ala850Thr) rs58836306 0.03656
NM_006493.4(CLN5):c.173+8C>T rs9565308 0.03653
NM_005765.3(ATP6AP2):c.268C>G (p.Pro90Ala) rs9014 0.03641
NM_001267550.2(TTN):c.30952G>A (p.Glu10318Lys) rs73038324 0.03639
NM_006765.4(TUSC3):c.798+36T>G rs17474327 0.03638
NM_152419.3(HGSNAT):c.1567A>C (p.Lys523Gln) rs73569592 0.03631
NM_014141.6(CNTNAP2):c.1710G>A (p.Ser570=) rs2286128 0.03626
NM_000433.4(NCF2):c.606G>A (p.Ala202=) rs17849501 0.03621
NM_152564.5(VPS13B):c.3667-7C>T rs35543295 0.03607
NM_000433.4(NCF2):c.1167C>A (p.His389Gln) rs17849502 0.03605
NM_000405.5(GM2A):c.55G>A (p.Ala19Thr) rs1048719 0.03595
NM_017668.3(NDE1):c.948-5739G>A rs34839877 0.03595
NM_005609.4(PYGM):c.1494C>T (p.Pro498=) rs11231865 0.03592
NM_002292.4(LAMB2):c.2740G>A (p.Gly914Arg) rs35713889 0.03588
NM_006017.3(PROM1):c.228G>A (p.Leu76=) rs76963591 0.03578
NM_000541.5(SAG):c.375+11C>T rs74356516 0.03568
NM_012213.3(MLYCD):c.444C>T (p.Asp148=) rs62640904 0.03566
NM_001849.4(COL6A2):c.714+9C>T rs78822624 0.03565
NM_019066.5(MAGEL2):c.3151C>A (p.Leu1051Ile) rs2233070 0.03565
NM_033337.3(CAV3):c.166G>A (p.Gly56Ser) rs72546667 0.03558
NM_144997.7(FLCN):c.1233G>A (p.Glu411=) rs61750032 0.03557
NM_014028.4(OSTM1):c.207G>T (p.Gly69=) rs80219951 0.03550
NM_004544.4(NDUFA10):c.24G>A (p.Leu8=) rs113012830 0.03541
NM_133642.5(LARGE1):c.1731-24T>C rs73399532 0.03540
NM_007317.3(KIF22):c.-3G>A rs144408025 0.03536
NM_133433.4(NIPBL):c.2469A>G (p.Lys823=) rs293756 0.03533
NM_133433.4(NIPBL):c.3015A>G (p.Leu1005=) rs1669445 0.03530
NM_001378964.1(CDON):c.330T>C (p.Pro110=) rs35131477 0.03518
NM_000180.4(GUCY2D):c.2101C>T (p.Pro701Ser) rs34598902 0.03505
NM_006031.6(PCNT):c.498A>G (p.Pro166=) rs61735824 0.03505
NM_001277313.2(FMN1):c.2717C>T (p.Pro906Leu) rs117804335 0.03499
NM_153676.4(USH1C):c.1770C>T (p.Ala590=) rs17776775 0.03494
NM_173495.3(PTCHD1):c.93G>A (p.Ala31=) rs12014412 0.03486
NM_001189.4(NKX3-2):c.-10C>A rs138460070 0.03470
NM_021625.5(TRPV4):c.55C>T (p.Pro19Ser) rs3742030 0.03470
NM_001278116.2(L1CAM):c.1268-10C>T rs112841948 0.03467
NM_017775.4(TTC19):c.-15G>A rs73276080 0.03466
NM_000018.4(ACADVL):c.194C>T (p.Pro65Leu) rs28934585 0.03462
NM_001042697.2(ZSWIM7):c.76+17G>T rs60636875 0.03461
NM_032119.4(ADGRV1):c.6289C>T (p.Arg2097Cys) rs16868974 0.03455
NM_001130987.2(DYSF):c.460+17G>C rs115170960 0.03446
NM_003924.4(PHOX2B):c.762A>C (p.Ala254=) rs17884724 0.03446
NM_001918.5(DBT):c.715A>G (p.Ile239Val) rs72973763 0.03442
NM_152618.3(BBS12):c.1286G>C (p.Ser429Thr) rs7665271 0.03441
NM_002206.3(ITGA7):c.824G>A (p.Arg275His) rs74867235 0.03438
NM_024312.5(GNPTAB):c.*43C>T rs79089208 0.03438
NM_001849.4(COL6A2):c.2163G>A (p.Gln721=) rs16978875 0.03433
NM_022489.4(INF2):c.1227G>T (p.Ser409=) rs3809455 0.03433
NM_133379.5(TTN):c.15276G>A (p.Leu5092=) rs72648910 0.03419
NM_001267550.2(TTN):c.105180G>C (p.Glu35060Asp) rs56308529 0.03418
NM_031885.5(BBS2):c.1659+3A>G rs6499838 0.03415
NM_005902.4(SMAD3):c.508A>G (p.Ile170Val) rs35874463 0.03414
NM_001287.6(CLCN7):c.900G>A (p.Ala300=) rs41286695 0.03405
NM_000245.4(MET):c.144G>A (p.Ala48=) rs11762213 0.03399
NM_000071.3(CBS):c.317-46G>C rs75873792 0.03396
NM_152419.3(HGSNAT):c.493+46G>T rs72647302 0.03382
NM_001061.7(TBXAS1):c.1066C>G (p.Leu356Val) rs4529 0.03380
NM_001360016.2(G6PD):c.1116G>A (p.Gln372=) rs2230036 0.03373
NM_000520.6(HEXA):c.1195A>G (p.Asn399Asp) rs1800430 0.03370
NM_004360.5(CDH1):c.48+5C>G rs77312180 0.03370
NM_001034853.2(RPGR):c.223A>G (p.Ile75Val) rs111631988 0.03363
NM_005334.3(HCFC1):c.4545G>A (p.Pro1515=) rs1051153 0.03363
NM_001079802.2(FKTN):c.373G>A (p.Gly125Ser) rs34006675 0.03359
NM_002458.3(MUC5B):c.15817G>C (p.Ala5273Pro) rs56123928 0.03357
NM_006343.3(MERTK):c.60A>T (p.Arg20Ser) rs35898499 0.03355
NM_001256317.3(TMPRSS3):c.268G>A (p.Ala90Thr) rs45598239 0.03352
NM_000466.3(PEX1):c.473-18G>A rs2066743 0.03344
NM_001349338.3(FOXP1):c.1147-19G>A rs75214049 0.03317
NM_001130987.2(DYSF):c.951+39T>C rs74384941 0.03312
NM_000155.4(GALT):c.945T>C (p.His315=) rs61735982 0.03311
NM_001999.4(FBN2):c.203C>T (p.Ala68Val) rs62390671 0.03303
NM_014140.4(SMARCAL1):c.1129G>C (p.Glu377Gln) rs2066518 0.03294
NM_000070.3(CAPN3):c.1029+3A>G rs28364442 0.03285
NM_001130987.2(DYSF):c.1914C>T (p.Tyr638=) rs35721373 0.03282
NM_001128178.3(NPHP1):c.771+39C>T rs73954628 0.03266
NM_001848.3(COL6A1):c.1773G>A (p.Pro591=) rs74852641 0.03265
NM_004369.4(COL6A3):c.1914G>A (p.Arg638=) rs34904623 0.03265
NM_001323289.2(CDKL5):c.2372A>C (p.Gln791Pro) rs35478150 0.03249
NM_001130987.2(DYSF):c.666T>C (p.Pro222=) rs35392229 0.03244
NM_003924.4(PHOX2B):c.870C>A (p.Pro290=) rs17885864 0.03243
NM_006363.6(SEC23B):c.2061G>T (p.Leu687=) rs7262532 0.03235
NM_033100.4(CDHR1):c.2434C>T (p.Pro812Ser) rs45584033 0.03229
NM_002207.3(ITGA9):c.2667+32G>A rs76424398 0.03226
NM_000540.3(RYR1):c.9555-13C>T rs2960328 0.03214
NM_024649.5(BBS1):c.700G>A (p.Glu234Lys) rs35520756 0.03206
NM_001189.4(NKX3-2):c.429G>A (p.Ala143=) rs10032202 0.03205
NM_002739.5(PRKCG):c.1497T>C (p.Phe499=) rs2242244 0.03204
NM_138694.4(PKHD1):c.5896C>T (p.Leu1966=) rs1266923 0.03202
NM_000439.5(PCSK1):c.661A>G (p.Asn221Asp) rs6232 0.03201
NM_000051.4(ATM):c.4578C>T (p.Pro1526=) rs1800889 0.03196
NM_001123385.2(BCOR):c.1791C>T (p.His597=) rs144606152 0.03194
NM_000350.3(ABCA4):c.5843C>T (p.Pro1948Leu) rs56142141 0.03191
NM_178452.6(DNAAF1):c.919C>G (p.Gln307Glu) rs111472069 0.03191
NM_130837.3(OPA1):c.1773A>C (p.Ala591=) rs78767626 0.03184
NM_000092.5(COL4A4):c.1634G>C (p.Gly545Ala) rs1800516 0.03182
NM_001127255.2(NLRP7):c.1532A>G (p.Lys511Arg) rs61743949 0.03179
NM_000051.4(ATM):c.1899-55T>G rs4987951 0.03178
NM_022367.4(SEMA4A):c.2138G>A (p.Arg713Gln) rs41265017 0.03176
NM_000036.3(AMPD1):c.215+10G>A rs6683173 0.03175
NM_001453.3(FOXC1):c.1563T>G (p.Ser521=) rs73406891 0.03175
NM_000153.4(GALC):c.330C>T (p.Asp110=) rs11552556 0.03162
NM_003361.4(UMOD):c.-47T>C rs75645968 0.03162
NM_006269.2(RP1):c.3699C>T (p.Ser1233=) rs114557304 0.03129
NM_000142.5(FGFR3):c.588C>T (p.Arg196=) rs2305180 0.03125
NM_013382.7(POMT2):c.161C>A (p.Ala54Glu) rs8177536 0.03119
NM_000093.5(COL5A1):c.1588G>A (p.Gly530Ser) rs61735045 0.03116
NM_000260.4(MYO7A):c.468C>T (p.Ile156=) rs12420129 0.03116
NM_001291867.2(NHS):c.211C>T (p.Pro71Ser) rs398124605 0.03116
NM_000540.3(RYR1):c.2871-5C>T rs45585535 0.03110
NM_001453.3(FOXC1):c.889C>T (p.Pro297Ser) rs79691946 0.03108
NM_001453.3(FOXC1):c.405C>T (p.Cys135=) rs2230096 0.03096
NM_022039.4(FBXW4):c.534C>G (p.Ala178=) rs61761937 0.03084
NM_020751.3(COG6):c.1693-6A>T rs78336861 0.03077
NM_000260.4(MYO7A):c.6424G>A (p.Asp2142Asn) rs1132036 0.03072
NM_017780.4(CHD7):c.6135G>A (p.Pro2045=) rs6999971 0.03071
NM_000520.6(HEXA):c.9C>T (p.Ser3=) rs1800428 0.03048
NM_001918.5(DBT):c.1281+31T>G rs115696850 0.03046
NM_144672.4(OTOA):c.2229C>T (p.Ala743=) rs461179 0.03046
NM_015102.5(NPHP4):c.2724G>A (p.Ser908=) rs114545322 0.03032
NM_000540.3(RYR1):c.7260C>T (p.His2420=) rs12973632 0.03031
NM_001130987.2(DYSF):c.1577-1635C>G rs76402294 0.03029
NM_001165963.4(SCN1A):c.345T>C (p.Asn115=) rs61741123 0.03029
NM_031433.4(MFRP):c.770G>A (p.Arg257His) rs61736238 0.03023
NM_130839.5(UBE3A):c.477A>T (p.Ala159=) rs28528079 0.03018
NM_000489.6(ATRX):c.228G>A (p.Ser76=) rs5959371 0.03016
NM_005996.4(TBX3):c.1126T>A (p.Ser376Thr) rs78115331 0.03014
NM_014009.4(FOXP3):c.543C>T (p.Ser181=) rs2232367 0.03006
NM_001848.3(COL6A1):c.2435-19C>T rs115181427 0.03003
NM_212550.5(BLOC1S3):c.322C>G (p.Leu108Val) rs75792246 0.02993
NM_000038.6(APC):c.7704A>G (p.Gly2568=) rs35043160 0.02992
NM_024312.5(GNPTAB):c.3602+8C>A rs79493678 0.02992
NM_206933.4(USH2A):c.10836C>A (p.Val3612=) rs61276761 0.02977
NM_004006.3(DMD):c.8734A>G (p.Asn2912Asp) rs1800278 0.02976
NM_153240.5(NPHP3):c.2571-7T>C rs62292468 0.02974
NM_000540.3(RYR1):c.4107C>T (p.Pro1369=) rs11882640 0.02972
NM_018006.5(TRMU):c.10T>G (p.Leu4Val) rs114302881 0.02970
NM_001369268.1(ACAN):c.1515G>A (p.Ala505=) rs34957282 0.02963
NM_004369.4(COL6A3):c.6282+50C>T rs73998889 0.02963
NM_001369268.1(ACAN):c.1850G>A (p.Arg617His) rs34616796 0.02960
NM_001369268.1(ACAN):c.1530G>A (p.Pro510=) rs34637731 0.02958
NM_001369268.1(ACAN):c.1866C>T (p.Cys622=) rs35652696 0.02956
NM_001038.6(SCNN1A):c.1853G>T (p.Cys618Phe) rs3741913 0.02955
NM_000330.4(RS1):c.184+3207C>T rs35693326 0.02951
NM_000350.3(ABCA4):c.2828G>A (p.Arg943Gln) rs1801581 0.02951
NM_182914.3(SYNE2):c.7690A>G (p.Ile2564Val) rs11628107 0.02936
NM_013339.4(ALG6):c.391T>C (p.Tyr131His) rs35383149 0.02935
NM_001035.3(RYR2):c.1776A>T (p.Gly592=) rs72549414 0.02926
NM_001044.5(SLC6A3):c.1731C>T (p.Ala577=) rs6349 0.02926
NM_144997.7(FLCN):c.726A>T (p.Thr242=) rs113938514 0.02907
NM_005476.7(GNE):c.600C>T (p.Ile200=) rs7047950 0.02902
NM_000096.4(CP):c.2554+17G>A rs35593818 0.02896
NM_000350.3(ABCA4):c.3602T>G (p.Leu1201Arg) rs61750126 0.02895
NM_000709.4(BCKDHA):c.1260C>T (p.Leu420=) rs34492894 0.02893
NM_006005.3(WFS1):c.1805C>T (p.Ala602Val) rs2230720 0.02889
NM_003060.4(SLC22A5):c.393+17G>A rs11568522 0.02888
NM_001927.4(DES):c.669T>C (p.Ile223=) rs75882680 0.02876
NM_004006.3(DMD):c.8729A>T (p.Glu2910Val) rs41305353 0.02876
NM_017617.5(NOTCH1):c.7233A>G (p.Pro2411=) rs11574911 0.02871
NM_000277.3(PAH):c.707-7A>T rs62508624 0.02868
NM_182894.3(VSX2):c.831G>A (p.Leu277=) rs62006815 0.02860
NM_001848.3(COL6A1):c.2781C>T (p.Tyr927=) rs61735853 0.02858
NM_014425.5(INVS):c.2402G>A (p.Gly801Glu) rs76868679 0.02854
NM_000295.5(SERPINA1):c.-10T>C rs11558258 0.02837
NM_004183.4(BEST1):c.1023C>T (p.Pro341=) rs1801390 0.02837
NM_000540.3(RYR1):c.5112C>T (p.Gly1704=) rs35352076 0.02832
NM_000053.4(ATP7B):c.3620A>G (p.His1207Arg) rs7334118 0.02828
NM_006208.3(ENPP1):c.2320C>T (p.Arg774Cys) rs28933977 0.02826
NM_002458.3(MUC5B):c.757G>A (p.Gly253Ser) rs56179538 0.02825
NM_000452.3(SLC10A2):c.292G>A (p.Val98Ile) rs55971546 0.02814
NM_000823.4(GHRHR):c.1265T>C (p.Met422Thr) rs2228078 0.02812
NM_001122630.2(CDKN1C):c.-11+60G>A rs143992355 0.02792
NM_000074.2(CD40LG):c.-191A>C rs36206512 0.02791
NM_000155.4(GALT):c.876G>A (p.Thr292=) rs1055607 0.02790
NM_020451.3(SELENON):c.981C>T (p.Arg327=) rs147587542 0.02788
NM_001370259.2(MEN1):c.435C>T (p.Ser145=) rs61736636 0.02784
NM_002024.6(FMR1):c.271-19A>G rs29279 0.02783
NM_004006.3(DMD):c.6463C>T (p.Arg2155Trp) rs1800273 0.02767
NM_000018.4(ACADVL):c.128G>A (p.Gly43Asp) rs2230178 0.02763
NM_194248.3(OTOF):c.158C>T (p.Ala53Val) rs1879761 0.02762
NM_002024.6(FMR1):c.433G>T (p.Ala145Ser) rs29281 0.02758
NM_003240.5(LEFTY2):c.774C>T (p.Thr258=) rs149969900 0.02758
NM_001365536.1(SCN9A):c.5756A>G (p.Asp1919Gly) rs3750904 0.02756
NM_020975.6(RET):c.1264-5C>T rs9282835 0.02749
NM_004006.3(DMD):c.4162T>G (p.Phe1388Val) rs28715870 0.02748
NM_015272.5(RPGRIP1L):c.2231G>A (p.Arg744Gln) rs2302677 0.02738
NM_004369.4(COL6A3):c.1976G>A (p.Arg659His) rs36092870 0.02734
NM_001128178.3(NPHP1):c.115C>A (p.Pro39Thr) rs33958626 0.02731
NM_018006.5(TRMU):c.9C>G (p.Ala3=) rs75417986 0.02729
NM_000391.4(TPP1):c.381-10dup rs146315473 0.02726
NM_001385875.1(ZFYVE27):c.572G>T (p.Gly191Val) rs35077384 0.02717
NM_000709.4(BCKDHA):c.996-6G>A rs74586298 0.02713
NM_002637.4(PHKA1):c.429C>T (p.Leu143=) rs138066694 0.02710
NM_006765.4(TUSC3):c.912G>A (p.Ser304=) rs17121892 0.02710
NM_001848.3(COL6A1):c.1823-31C>T rs117330552 0.02707
NM_002693.3(POLG):c.3428A>G (p.Glu1143Gly) rs2307441 0.02704
NM_002294.3(LAMP2):c.927C>T (p.Ser309=) rs73219144 0.02702
NM_001927.4(DES):c.408C>T (p.Leu136=) rs111828114 0.02697
NM_000108.5(DLD):c.685-14T>A rs80111449 0.02691
NM_000452.3(SLC10A2):c.505C>T (p.Leu169=) rs41281678 0.02689
NM_000466.3(PEX1):c.2584-20T>A rs111535201 0.02687
NM_001849.4(COL6A2):c.679G>A (p.Asp227Asn) rs35881321 0.02685
NM_004369.4(COL6A3):c.9123G>A (p.Thr3041=) rs61729843 0.02678
NM_001001548.3(CD36):c.975T>G (p.Tyr325Ter) rs3211938 0.02669
NM_003240.5(LEFTY2):c.857C>T (p.Pro286Leu) rs2295418 0.02669
NM_004369.4(COL6A3):c.882C>T (p.Phe294=) rs7561625 0.02665
NM_001277313.2(FMN1):c.2826T>G (p.Pro942=) rs74012406 0.02663
NM_004260.4(RECQL4):c.1772C>T (p.Pro591Leu) rs2721191 0.02663
NM_213599.3(ANO5):c.2521-13A>G rs76850415 0.02660
NM_001252024.2(TRPM1):c.234T>C (p.Tyr78=) rs74010762 0.02659
NM_001142800.2(EYS):c.5977A>G (p.Thr1993Ala) rs115066356 0.02657
NM_020366.4(RPGRIP1):c.3341A>G (p.Asp1114Gly) rs17103671 0.02649
NM_001042702.5(PJVK):c.874G>A (p.Gly292Arg) rs79399438 0.02648
NM_006031.6(PCNT):c.8988C>T (p.Ala2996=) rs61735826 0.02642
NM_130837.3(OPA1):c.449-21A>G rs75213840 0.02640
NM_018451.5(CENPJ):c.163C>G (p.Pro55Ala) rs17081389 0.02639
NM_001130987.2(DYSF):c.239+31C>G rs78958249 0.02626
NM_004369.4(COL6A3):c.6930+28C>T rs72986111 0.02626
NM_004369.4(COL6A3):c.1313-17A>G rs7579816 0.02624
NM_130837.3(OPA1):c.1035+37A>C rs76253392 0.02623
NM_014244.5(ADAMTS2):c.1281C>T (p.Asp427=) rs34424371 0.02621
NM_020631.6(PLEKHG5):c.2576G>A (p.Arg859His) rs61737997 0.02621
NM_130839.5(UBE3A):c.1773A>G (p.Glu591=) rs34670662 0.02620
NM_001348946.2(ABCB1):c.1199G>A (p.Ser400Asn) rs2229109 0.02618
NM_001374353.1(GLI2):c.2997C>T (p.Asp999=) rs140479803 0.02616
NM_000618.5(IGF1):c.*263T>A rs70961704 0.02615
NM_001130987.2(DYSF):c.3119G>A (p.Arg1040Gln) rs34211915 0.02614
NM_000071.3(CBS):c.1467+38A>G rs139077204 0.02609
NM_001206979.2(NR1H4):c.-1G>T rs56163822 0.02608
NM_133642.5(LARGE1):c.1548C>T (p.Tyr516=) rs34292743 0.02604
NM_022455.5(NSD1):c.3106G>C (p.Ala1036Pro) rs28932179 0.02602
NM_000554.6(CRX):c.472G>A (p.Ala158Thr) rs61748445 0.02598
NM_004369.4(COL6A3):c.5917+28G>C rs73093737 0.02596
NM_000443.4(ABCB4):c.2363G>A (p.Arg788Gln) rs8187801 0.02594
NM_007254.4(PNKP):c.1189-10del rs3739205 0.02593
NM_004006.3(DMD):c.31+292A>C rs114046794 0.02592
NM_001372044.2(SHANK3):c.2386G>A (p.Ala796Thr) rs61729471 0.02583
NM_000101.4(CYBA):c.381T>C (p.Arg127=) rs12123 0.02582
NM_001852.4(COL9A2):c.1288-12C>T rs77695700 0.02575
NM_000350.3(ABCA4):c.6732G>A (p.Val2244=) rs77293072 0.02574
NM_004562.3(PRKN):c.1180G>A (p.Asp394Asn) rs1801334 0.02570
NM_000283.4(PDE6B):c.373C>G (p.Pro125Ala) rs28414606 0.02568
NM_000283.4(PDE6B):c.384C>T (p.Ser128=) rs28510278 0.02567
NM_004006.3(DMD):c.2623-11C>G rs1028360 0.02567
NM_024740.2(ALG9):c.406-7C>T rs45574638 0.02566
NM_000153.4(GALC):c.397T>C (p.Leu133=) rs56194647 0.02565
NM_001848.3(COL6A1):c.1273-8C>T rs7280215 0.02565
NM_012301.4(MAGI2):c.3915G>A (p.Gln1305=) rs117054456 0.02550
NM_014956.5(CEP164):c.1430A>G (p.His477Arg) rs117083334 0.02549
NM_020223.4(FAM20C):c.1652G>A (p.Arg551His) rs150231592 0.02546
NM_001278116.2(L1CAM):c.197+17G>A rs5987174 0.02545
NM_001035.3(RYR2):c.8437-7dup rs148246251 0.02544
NM_012448.4(STAT5B):c.1101C>A (p.Pro367=) rs61749920 0.02543
NM_206965.2(FTCD):c.452A>T (p.Lys151Met) rs116089237 0.02538
NM_022464.5(SIL1):c.1029+6T>C rs57028146 0.02536
NM_001323289.2(CDKL5):c.555-19C>G rs75057928 0.02527
NM_012463.4(ATP6V0A2):c.2438C>T (p.Ala813Val) rs17883456 0.02527
NM_152618.3(BBS12):c.1381A>C (p.Asn461His) rs10027479 0.02523
NM_001267550.2(TTN):c.25398T>A (p.Asp8466Glu) rs72648986 0.02522
NM_001080.3(ALDH5A1):c.545C>T (p.Pro182Leu) rs3765310 0.02518
NM_003482.4(KMT2D):c.15978T>G (p.Leu5326=) rs55776396 0.02513
NM_001232.4(CASQ2):c.731A>G (p.His244Arg) rs28730716 0.02511
NM_006790.3(MYOT):c.149A>G (p.Gln50Arg) rs34717730 0.02506
NM_020631.6(PLEKHG5):c.2827G>C (p.Gly943Arg) rs114619322 0.02505
NM_001692.4(ATP6V1B1):c.481G>A (p.Glu161Lys) rs114234874 0.02502
NM_000535.7(PMS2):c.1532C>T (p.Thr511Met) rs74902811 0.02492
NM_152419.3(HGSNAT):c.1840G>A (p.Val614Ile) rs73675469 0.02491
NM_000214.3(JAG1):c.270G>T (p.Gly90=) rs114048678 0.02490
NM_001130987.2(DYSF):c.2856G>A (p.Pro952=) rs34836829 0.02488
NM_201384.3(PLEC):c.5229G>A (p.Ala1743=) rs140406501 0.02486
NM_006493.4(CLN5):c.87C>G (p.Ala29=) rs138037471 0.02484
NM_014249.4(NR2E3):c.488T>C (p.Met163Thr) rs1805021 0.02481
NM_004606.5(TAF1):c.808C>G (p.Leu270Val) rs28382158 0.02479
NM_002335.4(LRP5):c.4000+10T>A rs116068042 0.02476
NM_001277313.2(FMN1):c.2652A>G (p.Gly884=) rs61739379 0.02473
NM_004380.3(CREBBP):c.6711C>T (p.Pro2237=) rs3751845 0.02471
NM_005634.3(SOX3):c.609T>C (p.Tyr203=) rs45586631 0.02470
NM_006208.3(ENPP1):c.-10C>T rs750410843 0.02463
NM_000030.3(AGXT):c.65A>G (p.Asn22Ser) rs34885252 0.02454
NM_004006.3(DMD):c.-8T>A rs113726961 0.02450
NM_003482.4(KMT2D):c.12028T>C (p.Ser4010Pro) rs80132640 0.02449
NM_005634.3(SOX3):c.127G>A (p.Ala43Thr) rs73637709 0.02446
NM_001130987.2(DYSF):c.4222-20G>A rs111935215 0.02442
NM_001367624.2(ZNF469):c.1827G>A (p.Ser609=) rs148616993 0.02438
NM_003477.3(PDHX):c.70C>G (p.Arg24Gly) rs11539201 0.02438
NM_138694.4(PKHD1):c.1736C>T (p.Thr579Met) rs45500692 0.02436
NM_181507.2(HPS5):c.3293C>T (p.Thr1098Ile) rs61884288 0.02435
NM_000441.2(SLC26A4):c.1708-18T>A rs55701254 0.02432
NM_000143.4(FH):c.927G>A (p.Pro309=) rs61737760 0.02428
NM_003482.4(KMT2D):c.5467+19A>C rs78764337 0.02428
NM_004369.4(COL6A3):c.7509G>A (p.Arg2503=) rs34181055 0.02427
NM_000487.6(ARSA):c.243C>T (p.Gly81=) rs6151410 0.02425
NM_001360016.2(G6PD):c.1431C>T (p.Pro477=) rs77214077 0.02424
NM_003482.4(KMT2D):c.248G>A (p.Arg83Gln) rs55865069 0.02422
NM_001080.3(ALDH5A1):c.106G>C (p.Gly36Arg) rs4646832 0.02421
NM_000018.4(ACADVL):c.1038G>A (p.Ala346=) rs8064573 0.02419
NM_001429.4(EP300):c.6668A>C (p.Gln2223Pro) rs1046088 0.02418
NM_001854.4(COL11A1):c.1872A>G (p.Pro624=) rs111841420 0.02418
NM_000434.4(NEU1):c.263G>C (p.Gly88Ala) rs34712643 0.02415
NM_000104.4(CYP1B1):c.564C>A (p.Gly188=) rs9341247 0.02411
NM_130837.3(OPA1):c.629C>T (p.Ala210Val) rs34307082 0.02411
NM_003839.4(TNFRSF11A):c.75+5G>A rs146553439 0.02406
NM_022095.4(ZNF335):c.3187C>A (p.Arg1063=) rs11905235 0.02405
NM_000329.3(RPE65):c.1301C>T (p.Ala434Val) rs34627040 0.02403
NM_001429.4(EP300):c.2131+18T>A rs9611506 0.02398
NM_000297.4(PKD2):c.568G>A (p.Ala190Thr) rs117078377 0.02396
NM_000157.4(GBA1):c.38A>G (p.Lys13Arg) rs150466109 0.02394
NM_003923.3(FOXH1):c.373A>T (p.Thr125Ser) rs112028242 0.02391
NM_014249.4(NR2E3):c.419A>G (p.Glu140Gly) rs1805020 0.02391
NM_018297.4(NGLY1):c.-8G>A rs1488996 0.02385
NM_000260.4(MYO7A):c.4589C>T (p.Ser1530Leu) rs111033183 0.02384
NM_206933.4(USH2A):c.15377T>C (p.Ile5126Thr) rs111033266 0.02380
NM_003383.5(VLDLR):c.24G>A (p.Ala8=) rs34336270 0.02372
NM_020436.5(SALL4):c.2182G>C (p.Ala728Pro) rs61737142 0.02370
NM_001277313.2(FMN1):c.2462A>G (p.Lys821Arg) rs61732708 0.02366
NM_001200.4(BMP2):c.109T>G (p.Ser37Ala) rs2273073 0.02358
NM_001371986.1(UNC80):c.672C>T (p.Pro224=) rs76851741 0.02348
NM_000249.4(MLH1):c.2152C>T (p.His718Tyr) rs2020873 0.02345
NM_003060.4(SLC22A5):c.430C>T (p.Leu144Phe) rs10040427 0.02340
NM_001211.6(BUB1B):c.119C>T (p.Thr40Met) rs56079734 0.02335
NM_001297.5(CNGB1):c.3556C>T (p.Pro1186Ser) rs7190372 0.02335
NM_133642.5(LARGE1):c.576C>T (p.Pro192=) rs36002910 0.02334
NM_032119.4(ADGRV1):c.10577T>C (p.Met3526Thr) rs41311343 0.02332
NM_201384.3(PLEC):c.5316G>A (p.Ala1772=) rs62642466 0.02329
NM_012463.4(ATP6V0A2):c.1121A>G (p.Lys374Arg) rs79134187 0.02323
NM_000251.3(MSH2):c.380A>G (p.Asn127Ser) rs17217772 0.02317
NM_182914.3(SYNE2):c.12840+8T>C rs145218296 0.02317
NM_207391.3(RGS9BP):c.668C>T (p.Ala223Val) rs35413309 0.02313
NM_130839.5(UBE3A):c.373T>C (p.Leu125=) rs61734190 0.02311
NM_000535.7(PMS2):c.1488C>T (p.His496=) rs1805320 0.02307
NM_001146079.2(CLDN14):c.63G>A (p.Thr21=) rs117560775 0.02306
NM_145861.4(EDARADD):c.60G>A (p.Glu20=) rs60808129 0.02304
NM_000455.5(STK11):c.264C>A (p.Ile88=) rs56354945 0.02303
NM_020451.3(SELENON):c.42C>T (p.Pro14=) rs187960531 0.02295
NM_000088.3(COL1A1):c.-161C>T rs113647555 0.02290
NM_024577.4(SH3TC2):c.1350G>A (p.Pro450=) rs17722227 0.02289
NM_001199107.2(TBC1D24):c.1440G>A (p.Ser480=) rs12373107 0.02286
NM_000142.5(FGFR3):c.615+8C>G rs17878375 0.02283
NM_203475.3(PORCN):c.633C>T (p.Gly211=) rs35018140 0.02273
NM_153676.4(USH1C):c.1859G>T (p.Arg620Leu) rs139996942 0.02272
NM_002834.5(PTPN11):c.255C>T (p.His85=) rs61736914 0.02271
NM_001367624.2(ZNF469):c.10975G>A (p.Gly3659Arg) rs3812951 0.02265
NM_024312.5(GNPTAB):c.1931C>T (p.Thr644Ile) rs76889468 0.02262
NM_000455.5(STK11):c.734+41T>C rs115624397 0.02258
NM_198253.3(TERT):c.835G>A (p.Ala279Thr) rs61748181 0.02258
NM_203475.3(PORCN):c.1158G>A (p.Ser386=) rs34252975 0.02254
NM_001029883.3(PCARE):c.2889C>T (p.Ser963=) rs144569618 0.02252
NM_000540.3(RYR1):c.5622A>G (p.Glu1874=) rs35021937 0.02251
NM_024312.5(GNPTAB):c.1612+28T>C rs74389509 0.02246
NM_024312.5(GNPTAB):c.3693+10A>T rs76021817 0.02246
NM_000017.4(ACADS):c.*5G>A rs2229533 0.02244
NM_025136.4(OPA3):c.-38A>G rs45527139 0.02241
NM_015340.4(LARS2):c.972C>A (p.His324Gln) rs71645922 0.02237
NM_001111125.3(IQSEC2):c.477G>A (p.Leu159=) rs185512321 0.02235
NM_001854.4(COL11A1):c.1944+11T>C rs71664954 0.02235
NM_001130987.2(DYSF):c.661C>G (p.Leu221Val) rs13407355 0.02232
NM_000337.6(SGCD):c.700-19T>C rs80086857 0.02231
NM_206933.4(USH2A):c.14481C>T (p.Ala4827=) rs41304083 0.02229
NM_133378.4(TTN):c.93062-10T>C rs202214630 0.02222
NM_004004.6(GJB2):c.79G>A (p.Val27Ile) rs2274084 0.02218
NM_000335.5(SCN5A):c.3305C>A (p.Ser1102Tyr) rs7626962 0.02208
NM_198525.3(KIF7):c.1444-4A>G rs112333674 0.02204
NM_133642.5(LARGE1):c.1827A>G (p.Ser609=) rs11913417 0.02196
NM_000182.5(HADHA):c.1072C>A (p.Gln358Lys) rs2229420 0.02193
NM_000019.4(ACAT1):c.-15C>G rs113348145 0.02192
NM_004006.3(DMD):c.8762A>G (p.His2921Arg) rs1800279 0.02191
NM_000101.4(CYBA):c.480G>A (p.Pro160=) rs72547284 0.02182
NM_022455.5(NSD1):c.7636G>A (p.Ala2546Thr) rs78247455 0.02182
NM_024079.5(ALG8):c.1316T>C (p.Ile439Thr) rs17825668 0.02180
NM_024009.3(GJB3):c.94C>T (p.Arg32Trp) rs1805063 0.02177
NM_024757.5(EHMT1):c.128C>G (p.Ala43Gly) rs79514677 0.02177
NM_000535.7(PMS2):c.1531A>G (p.Thr511Ala) rs2228007 0.02174
NM_001848.3(COL6A1):c.1314G>A (p.Thr438=) rs7279254 0.02172
NM_030665.4(RAI1):c.264G>A (p.Gln88=) rs61999281 0.02170
NM_000051.4(ATM):c.4138C>T (p.His1380Tyr) rs3092856 0.02156
NM_000096.4(CP):c.1652C>T (p.Thr551Ile) rs61733458 0.02154
NM_000540.3(RYR1):c.11754T>A (p.Thr3918=) rs45613041 0.02154
NM_001849.4(COL6A2):c.3043A>C (p.Ile1015Leu) rs11910483 0.02152
NM_020549.5(CHAT):c.141C>G (p.Asp47Glu) rs3810948 0.02150
NM_000540.3(RYR1):c.11908-14A>G rs2292799 0.02149
NM_024649.5(BBS1):c.1349G>A (p.Arg450Gln) rs77298332 0.02147
NM_000540.3(RYR1):c.11266C>G (p.Gln3756Glu) rs4802584 0.02143
NM_000287.4(PEX6):c.207C>T (p.Pro69=) rs11539736 0.02141
NM_000540.3(RYR1):c.11260-19T>G rs4802583 0.02140
NM_147127.5(EVC2):c.3557+10G>A rs116218656 0.02138
NM_000016.6(ACADM):c.489T>G (p.Pro163=) rs78392995 0.02136
NM_002024.6(FMR1):c.801+31C>T rs150724379 0.02121
NM_004006.3(DMD):c.4878G>T (p.Val1626=) rs61733574 0.02120
NM_000098.3(CPT2):c.511C>T (p.Leu171=) rs2229292 0.02118
NM_000186.4(CFH):c.3176T>C (p.Ile1059Thr) rs35343172 0.02118
NM_001164508.2(NEB):c.7310G>A (p.Arg2437Gln) rs61730780 0.02113
NM_005634.3(SOX3):c.732A>C (p.Ala244=) rs45451393 0.02113
NM_133433.4(NIPBL):c.4421+7A>G rs76297333 0.02109
NM_032119.4(ADGRV1):c.10039T>C (p.Phe3347Leu) rs10067636 0.02108
NM_004369.4(COL6A3):c.5100G>A (p.Arg1700=) rs34340053 0.02105
NM_020433.5(JPH2):c.1289-7C>T rs116986535 0.02105
NM_133433.4(NIPBL):c.4561-9T>A rs79924167 0.02103
NM_000144.5(FXN):c.-7G>A rs145006100 0.02101
NM_024675.4(PALB2):c.629C>T (p.Pro210Leu) rs57605939 0.02101
NM_001127222.2(CACNA1A):c.6378C>T (p.Ser2126=) rs16050 0.02098
NM_001079802.2(FKTN):c.166C>T (p.Arg56Cys) rs41277797 0.02093
NM_000303.3(PMM2):c.590A>C (p.Glu197Ala) rs34258285 0.02088
NM_000551.4(VHL):c.341-37G>A rs115744107 0.02087
NM_004006.3(DMD):c.5016T>A (p.Asn1672Lys) rs16990264 0.02084
NM_016239.4(MYO15A):c.2462A>C (p.Gln821Pro) rs372125621 0.02081
NM_001130987.2(DYSF):c.4122C>T (p.Ser1374=) rs2303607 0.02075
NM_012418.4(FSCN2):c.453C>T (p.Tyr151=) rs73367596 0.02072
NM_001849.4(COL6A2):c.116-34G>A rs117154313 0.02070
NM_000018.4(ACADVL):c.49C>T (p.Leu17Phe) rs2230179 0.02069
NM_002206.3(ITGA7):c.2433-5G>A rs79745402 0.02069
NM_000350.3(ABCA4):c.3899G>A (p.Arg1300Gln) rs61750129 0.02065
NM_000545.8(HNF1A):c.293C>T (p.Ala98Val) rs1800574 0.02065
NM_007129.5(ZIC2):c.1326C>T (p.Ser442=) rs182192729 0.02065
NM_001848.3(COL6A1):c.2736C>T (p.Asp912=) rs13879 0.02053
NM_025114.4(CEP290):c.251-10A>T rs190383141 0.02052
NM_002890.3(RASA1):c.296C>T (p.Ala99Val) rs111840875 0.02050
NM_006059.4(LAMC3):c.92G>T (p.Arg31Leu) rs116259120 0.02047
NM_000180.4(GUCY2D):c.3225-7C>T rs79887212 0.02045
NM_013382.7(POMT2):c.1007-32G>A rs79509556 0.02044
NM_005045.4(RELN):c.26A>C (p.Gln9Pro) rs115165703 0.02037
NM_054012.4(ASS1):c.688+4T>C rs78432485 0.02036
NM_001134831.2(AHI1):c.2488C>T (p.Arg830Trp) rs13312995 0.02035
NM_004369.4(COL6A3):c.1786G>T (p.Ala596Ser) rs34934127 0.02035
NM_000180.4(GUCY2D):c.3297G>A (p.Pro1099=) rs142351773 0.02033
NM_001165963.4(SCN1A):c.1662+9C>A rs7559148 0.02030
NM_001177316.2(SLC34A3):c.756+9G>A rs4076685 0.02016
NM_001034853.2(RPGR):c.1598C>T (p.Thr533Met) rs41312104 0.02014
NM_000077.5(CDKN2A):c.442G>A (p.Ala148Thr) rs3731249 0.02007
NM_007137.5(ZNF81):c.181+8C>T rs11091216 0.02004
NM_000179.3(MSH6):c.2253T>C (p.Asn751=) rs2020913 0.02003
NM_001035.3(RYR2):c.11557+19C>T rs113408406 0.01994
NM_001267550.2(TTN):c.76720T>C (p.Tyr25574His) rs3813245 0.01993
NM_139058.3(ARX):c.1347C>T (p.Gly449=) rs75489697 0.01993
NM_001267550.2(TTN):c.77638A>G (p.Thr25880Ala) rs56018860 0.01992
NM_001267550.2(TTN):c.91852+8T>A rs56145100 0.01992
NM_001267550.2(TTN):c.79265T>C (p.Ile26422Thr) rs3731745 0.01991
NM_206933.4(USH2A):c.6713A>C (p.Glu2238Ala) rs41277212 0.01991
NM_001267550.2(TTN):c.77279A>G (p.Asn25760Ser) rs3813246 0.01989
NM_001267550.2(TTN):c.80799C>A (p.Thr26933=) rs3813247 0.01986
NM_001267550.2(TTN):c.83056G>A (p.Val27686Ile) rs56309296 0.01985
NM_002435.3(MPI):c.684C>T (p.Asn228=) rs139190144 0.01985
NM_001267550.2(TTN):c.81958G>A (p.Ala27320Thr) rs56365600 0.01984
NM_001267550.2(TTN):c.84352C>T (p.Arg28118Cys) rs56057221 0.01984
NM_001110556.2(FLNA):c.7553-18A>G rs112682871 0.01979
NM_001267550.2(TTN):c.81855C>T (p.Ile27285=) rs56214710 0.01979
NM_000203.5(IDUA):c.1225G>C (p.Gly409Arg) rs11934801 0.01974
NM_003482.4(KMT2D):c.5217C>T (p.Gly1739=) rs111924728 0.01973
NM_000512.5(GALNS):c.318C>T (p.Asn106=) rs34278797 0.01971
NM_000709.4(BCKDHA):c.639C>T (p.Ile213=) rs10404506 0.01970
NM_006514.4(SCN10A):c.4710G>A (p.Thr1570=) rs78425180 0.01966
NM_000540.3(RYR1):c.13503G>A (p.Pro4501=) rs2960319 0.01964
NM_004172.5(SLC1A3):c.657G>C (p.Glu219Asp) rs2032892 0.01962
NM_004369.4(COL6A3):c.7086A>C (p.Gly2362=) rs35902696 0.01962
NM_006915.3(RP2):c.844C>T (p.Arg282Trp) rs1805147 0.01957
NM_001267550.2(TTN):c.18903C>T (p.Thr6301=) rs72648950 0.01956
NM_000154.2(GALK1):c.611+34G>A rs76743658 0.01955
NM_000337.6(SGCD):c.295-40T>A rs74571343 0.01950
NM_001927.4(DES):c.372G>A (p.Glu124=) rs34365369 0.01950
NM_005802.5(TOPORS):c.58C>T (p.Pro20Ser) rs112527210 0.01946
NM_000426.4(LAMA2):c.4750G>A (p.Gly1584Ser) rs117781224 0.01941
NM_003482.4(KMT2D):c.8091C>T (p.Arg2697=) rs116686402 0.01940
NM_001098671.2(RASGRP2):c.1592-3C>A rs75902820 0.01934
NM_000138.5(FBN1):c.1960+30G>A rs25459 0.01932
NM_000391.4(TPP1):c.1266+5G>A rs1800753 0.01932
NM_005045.4(RELN):c.7110T>C (p.Val2370=) rs362746 0.01926
NM_001100.4(ACTA1):c.996C>A (p.Ile332=) rs74897770 0.01920
NM_133642.5(LARGE1):c.309C>T (p.Ser103=) rs59349720 0.01920
NM_001429.4(EP300):c.1283-8T>C rs76827562 0.01914
NM_001429.4(EP300):c.942C>T (p.Gly314=) rs20553 0.01913
NM_138694.4(PKHD1):c.5236+14A>G rs12210725 0.01912
NM_017780.4(CHD7):c.2124T>C (p.Ser708=) rs79302359 0.01911
NM_017780.4(CHD7):c.5307C>T (p.Ala1769=) rs16926499 0.01905
NM_133433.4(NIPBL):c.4240-14T>G rs298972 0.01903
NM_001385875.1(ZFYVE27):c.378G>A (p.Lys126=) rs75060573 0.01901
NM_001005242.3(PKP2):c.209G>T (p.Ser70Ile) rs75909145 0.01900
NM_002617.4(PEX10):c.820A>G (p.Thr274Ala) rs34154371 0.01899
NM_001849.4(COL6A2):c.2160C>G (p.Arg720=) rs61735829 0.01898
NM_019892.6(INPP5E):c.603C>G (p.Ile201Met) rs36064831 0.01896
NM_206933.4(USH2A):c.13297G>T (p.Val4433Leu) rs111033381 0.01895
NM_000335.5(SCN5A):c.482+16G>C rs41312949 0.01894
NM_001017995.3(SH3PXD2B):c.1712C>T (p.Pro571Leu) rs111230322 0.01893
NM_002381.5(MATN3):c.187T>G (p.Ser63Ala) rs3816644 0.01892
NM_000051.4(ATM):c.1541G>A (p.Gly514Asp) rs2235000 0.01889
NM_001038.6(SCNN1A):c.540G>T (p.Leu180=) rs55859427 0.01886
NM_001145809.2(MYH14):c.3749C>A (p.Ala1250Glu) rs11669191 0.01884
NM_000260.4(MYO7A):c.2035G>A (p.Val679Ile) rs35641839 0.01879
NM_153252.5(BRWD3):c.813+10G>C rs55824836 0.01875
NM_194318.4(B3GLCT):c.271-12T>C rs117111131 0.01874
NM_002381.5(MATN3):c.754G>A (p.Glu252Lys) rs52826764 0.01868
NM_017617.5(NOTCH1):c.711C>T (p.Gly237=) rs61751557 0.01860
NM_000168.6(GLI3):c.2835G>C (p.Leu945=) rs61758978 0.01858
NM_133642.5(LARGE1):c.1949G>A (p.Arg650Gln) rs73399520 0.01853
NM_004183.4(BEST1):c.201G>C (p.Leu67=) rs1801393 0.01850
NM_004562.3(PRKN):c.574A>C (p.Met192Leu) rs9456735 0.01850
NM_017617.5(NOTCH1):c.6853G>A (p.Val2285Ile) rs61751489 0.01849
NM_001330078.2(NRXN1):c.900C>T (p.Pro300=) rs2303298 0.01844
NM_000095.3(COMP):c.511G>A (p.Ala171Thr) rs115338183 0.01840
NM_020451.3(SELENON):c.1387+11C>T rs59653066 0.01839
NM_001039348.3(EFEMP1):c.387A>G (p.Glu129=) rs14282 0.01837
NM_000059.4(BRCA2):c.5744C>T (p.Thr1915Met) rs4987117 0.01834
NM_030973.4(MED25):c.165G>A (p.Thr55=) rs77400039 0.01828
NM_004369.4(COL6A3):c.6981A>G (p.Glu2327=) rs35993209 0.01827
NM_000100.4(CSTB):c.15G>T (p.Ala5=) rs4533 0.01826
NM_153240.5(NPHP3):c.864T>A (p.Thr288=) rs147932449 0.01825
NM_004369.4(COL6A3):c.3071-16G>A rs73998896 0.01822
NM_004369.4(COL6A3):c.7668+21G>C rs11897148 0.01818
NM_014028.4(OSTM1):c.221C>G (p.Pro74Arg) rs141735624 0.01817
NM_000346.4(SOX9):c.1113G>A (p.Ala371=) rs929651 0.01816
NM_004369.4(COL6A3):c.8145A>G (p.Leu2715=) rs35763271 0.01816
NM_004369.4(COL6A3):c.7995A>C (p.Ala2665=) rs80193928 0.01815
NM_001034116.2(EIF2B4):c.916C>G (p.Arg306Gly) rs78599355 0.01806
NM_005334.3(HCFC1):c.3568G>A (p.Gly1190Ser) rs185987427 0.01804
NM_004380.3(CREBBP):c.7212A>G (p.Glu2404=) rs55916120 0.01802
NM_012463.4(ATP6V0A2):c.1016G>A (p.Arg339His) rs74922060 0.01800
NM_014249.4(NR2E3):c.1095C>T (p.Pro365=) rs35004053 0.01800
NM_001848.3(COL6A1):c.1957-5C>T rs78224483 0.01793
NM_004260.4(RECQL4):c.2395G>A (p.Val799Met) rs34293591 0.01793
NM_002529.4(NTRK1):c.710C>T (p.Thr237Met) rs55909005 0.01791
NM_173660.5(DOK7):c.-6C>G rs191800156 0.01785
NM_000181.4(GUSB):c.-12G>A rs2279903 0.01784
NM_000719.7(CACNA1C):c.5680+15C>T rs114036394 0.01782
NM_014336.5(AIPL1):c.341C>T (p.Thr114Ile) rs8069375 0.01781
NM_005609.4(PYGM):c.1184C>T (p.Thr395Met) rs71581787 0.01778
NM_006486.3(FBLN1):c.2084A>G (p.His695Arg) rs13268 0.01778
NM_024753.5(TTC21B):c.1417C>T (p.Leu473Phe) rs2163649 0.01776
NM_000430.4(PAFAH1B1):c.672-10A>C rs77153143 0.01770
NM_001035.3(RYR2):c.5654G>A (p.Gly1885Glu) rs41315858 0.01767
NM_001008216.2(GALE):c.709+14C>G rs6692104 0.01759
NM_000440.3(PDE6A):c.998+11C>T rs75319698 0.01758
NM_001256789.3(CACNA1F):c.1523G>A (p.Arg508Gln) rs34162630 0.01756
NM_000142.5(FGFR3):c.348C>T (p.Arg116=) rs2305179 0.01752
NM_001127222.2(CACNA1A):c.3546C>T (p.Val1182=) rs16029 0.01749
NM_001130987.2(DYSF):c.1465G>A (p.Glu489Lys) rs61740288 0.01748
NM_022124.6(CDH23):c.2424G>A (p.Gly808=) rs76601590 0.01745
NM_000116.5(TAFAZZIN):c.383T>C (p.Phe128Ser) rs146934311 0.01744
NM_020549.5(CHAT):c.-17G>A rs77152496 0.01739
NM_000089.4(COL1A2):c.82-12A>G rs143689469 0.01736
NM_001370658.1(BTD):c.-94C>T rs114567021 0.01730
NM_000426.4(LAMA2):c.8124T>A (p.Gly2708=) rs34997144 0.01727
NM_001110792.2(MECP2):c.1269C>T (p.Ser423=) rs3027928 0.01726
NM_001145809.2(MYH14):c.3468-3C>T rs78192108 0.01724
NM_022124.6(CDH23):c.4299T>A (p.Pro1433=) rs12218559 0.01724
NM_000245.4(MET):c.1124A>G (p.Asn375Ser) rs33917957 0.01723
NM_012418.4(FSCN2):c.381G>A (p.Pro127=) rs34454351 0.01717
NM_000393.5(COL5A2):c.1081A>C (p.Met361Leu) rs76148000 0.01714
NM_005996.4(TBX3):c.1173G>C (p.Ala391=) rs146589414 0.01711
NM_003482.4(KMT2D):c.7188T>C (p.Cys2396=) rs111305262 0.01710
NM_018451.5(CENPJ):c.1881G>A (p.Pro627=) rs75985315 0.01708
NM_004183.4(BEST1):c.618G>A (p.Leu206=) rs62641693 0.01704
NM_004183.4(BEST1):c.619C>A (p.Leu207Ile) rs74653691 0.01704
NM_001429.4(EP300):c.2499G>A (p.Ser833=) rs35560602 0.01700
NM_001278116.2(L1CAM):c.2307C>T (p.Ser769=) rs5987173 0.01697
NM_000795.4(DRD2):c.932C>G (p.Ser311Cys) rs1801028 0.01696
NM_032119.4(ADGRV1):c.-98G>A rs7706355 0.01695
NM_000038.6(APC):c.7504G>A (p.Gly2502Ser) rs2229995 0.01693
NM_005476.7(GNE):c.1770C>T (p.Tyr590=) rs111302956 0.01688
NM_001130987.2(DYSF):c.1785G>A (p.Ala595=) rs35984374 0.01679
NM_004006.3(DMD):c.832-17C>A rs72470514 0.01678
NM_000719.7(CACNA1C):c.5649G>A (p.Pro1883=) rs56270948 0.01676
NM_000548.5(TSC2):c.3986G>A (p.Arg1329His) rs45517323 0.01675
NM_006201.5(CDK16):c.793-5C>T rs41305363 0.01675
NM_002076.4(GNS):c.459+14T>C rs78614637 0.01673
NM_000492.4(CFTR):c.1584G>A (p.Glu528=) rs1800095 0.01670
NM_001039141.3(TRIOBP):c.1740C>A (p.Ala580=) rs79945262 0.01670
NM_006201.5(CDK16):c.-6-279C>T rs17550472 0.01668
NM_000271.5(NPC1):c.1503C>T (p.Asp501=) rs116046557 0.01665
NM_207391.3(RGS9BP):c.696G>A (p.Ala232=) rs150936907 0.01663
NM_004473.4(FOXE1):c.846G>A (p.Ala282=) rs142235457 0.01662
NM_015102.5(NPHP4):c.3243G>C (p.Gly1081=) rs41280800 0.01658
NM_017617.5(NOTCH1):c.3836G>A (p.Arg1279His) rs61751543 0.01655
NM_001038.6(SCNN1A):c.1477T>C (p.Trp493Arg) rs5742912 0.01653
NM_001374353.1(GLI2):c.3892C>T (p.Pro1298Ser) rs114376238 0.01651
NM_144997.7(FLCN):c.872-13A>G rs114970273 0.01651
NM_000440.3(PDE6A):c.1963C>T (p.His655Tyr) rs78775072 0.01647
NM_001042413.2(GLIS3):c.1536C>A (p.Asp512Glu) rs148199056 0.01645
NM_000112.4(SLC26A2):c.1474C>T (p.Arg492Trp) rs78676079 0.01642
NM_001130987.2(DYSF):c.4848G>A (p.Glu1616=) rs62145939 0.01642
NM_015102.5(NPHP4):c.1611+9C>T rs114900019 0.01637
NM_201384.3(PLEC):c.9945C>T (p.Ser3315=) rs28657061 0.01636
NM_003923.3(FOXH1):c.1077G>A (p.Leu359=) rs7833404 0.01634
NM_001100.4(ACTA1):c.129+31C>A rs144658220 0.01631
NM_004006.3(DMD):c.5724T>C (p.Asp1908=) rs143159113 0.01630
NM_020631.6(PLEKHG5):c.2594A>G (p.Gln865Arg) rs3007419 0.01628
NM_033337.3(CAV3):c.171G>A (p.Val57=) rs61147808 0.01628
NM_005634.3(SOX3):c.307C>A (p.Pro103Thr) rs201101913 0.01624
NM_001876.4(CPT1A):c.967+3G>A rs75677837 0.01623
NM_004586.3(RPS6KA3):c.113T>G (p.Ile38Ser) rs56218010 0.01619
NM_182894.3(VSX2):c.871G>A (p.Asp291Asn) rs75395981 0.01619
NM_000404.4(GLB1):c.325C>T (p.Arg109Trp) rs35289681 0.01618
NM_001145809.2(MYH14):c.483G>A (p.Met161Ile) rs34773557 0.01615
NM_000546.6(TP53):c.993+12T>C rs1800899 0.01614
NM_000104.4(CYP1B1):c.1328C>G (p.Ala443Gly) rs4986888 0.01612
NM_015102.5(NPHP4):c.279+47T>G rs115690090 0.01612
NM_031433.4(MFRP):c.355A>G (p.Ile119Val) rs4639950 0.01611
NM_002458.3(MUC5B):c.4389C>T (p.Thr1463=) rs139153751 0.01608
NM_012418.4(FSCN2):c.333C>T (p.Phe111=) rs117946784 0.01608
NM_025114.4(CEP290):c.829G>C (p.Glu277Gln) rs45502896 0.01608
NM_015102.5(NPHP4):c.2542C>T (p.Arg848Trp) rs17472401 0.01606
NM_016239.4(MYO15A):c.2238G>T (p.Arg746Ser) rs79760961 0.01604
NM_000543.5(SMPD1):c.807C>T (p.Ala269=) rs35933246 0.01598
NM_000275.3(OCA2):c.1113C>T (p.Gly371=) rs1800405 0.01593
NM_004004.6(GJB2):c.-15C>T rs72561725 0.01589
NM_020365.5(EIF2B3):c.1202+8T>G rs77068026 0.01589
NM_000719.7(CACNA1C):c.171C>T (p.Asp57=) rs34419050 0.01584
NM_194318.4(B3GLCT):c.672C>T (p.Tyr224=) rs35019745 0.01584
NM_033056.4(PCDH15):c.5359C>T (p.Pro1787Ser) rs61862390 0.01583
NM_001848.3(COL6A1):c.1524+15G>A rs116000285 0.01582
NM_000543.5(SMPD1):c.559C>T (p.Pro187Ser) rs74053349 0.01580
NM_000070.3(CAPN3):c.479C>G (p.Ala160Gly) rs17592 0.01574
NM_000271.5(NPC1):c.1947+14G>T rs3745024 0.01574
NM_001368397.1(FRMPD4):c.3765C>T (p.Gly1255=) rs112904131 0.01569
NM_014384.3(ACAD8):c.512C>G (p.Ser171Cys) rs113488591 0.01568
NM_001614.5(ACTG1):c.399C>T (p.Tyr133=) rs2230158 0.01567
NM_020975.6(RET):c.2944C>T (p.Arg982Cys) rs17158558 0.01567
NM_001614.5(ACTG1):c.729C>T (p.Pro243=) rs2230159 0.01563
NM_000334.4(SCN4A):c.968C>T (p.Thr323Met) rs80338952 0.01562
NM_001004127.3(ALG11):c.323A>G (p.Asn108Ser) rs17480245 0.01560
NM_004380.3(CREBBP):c.5670C>T (p.Pro1890=) rs115594471 0.01560
NM_194248.3(OTOF):c.3751T>G (p.Cys1251Gly) rs41288773 0.01560
NM_001370658.1(BTD):c.1111C>T (p.Pro371Ser) rs35034250 0.01555
NM_012301.4(MAGI2):c.1755C>T (p.Pro585=) rs34937835 0.01550
NM_006031.6(PCNT):c.7652C>T (p.Ala2551Val) rs12481791 0.01548
NM_194248.3(OTOF):c.4767C>T (p.Arg1589=) rs80356578 0.01544
NM_001267550.2(TTN):c.74972T>C (p.Ile24991Thr) rs744427 0.01542
NM_000051.4(ATM):c.1636C>G (p.Leu546Val) rs2227924 0.01541
NM_017780.4(CHD7):c.6738G>A (p.Glu2246=) rs61729627 0.01533
NM_000843.4(GRM6):c.1956C>T (p.Ala652=) rs62638621 0.01532
NM_021098.3(CACNA1H):c.1664C>T (p.Ala555Val) rs9924241 0.01528
NM_000642.3(AGL):c.112A>G (p.Thr38Ala) rs35278779 0.01527
NM_012448.4(STAT5B):c.993G>A (p.Thr331=) rs59491077 0.01527
NM_004369.4(COL6A3):c.6157-16G>A rs112637114 0.01524
NM_000525.4(KCNJ11):c.801C>G (p.Leu267=) rs5216 0.01521
NM_194248.3(OTOF):c.2464C>T (p.Arg822Trp) rs80356570 0.01518
NM_001171.6(ABCC6):c.3507-3C>T rs41278172 0.01517
NM_033087.4(ALG2):c.30C>G (p.Asp10Glu) rs7023652 0.01515
NM_021098.3(CACNA1H):c.5897C>T (p.Ala1966Val) rs72552054 0.01514
NM_006306.4(SMC1A):c.412-10C>T rs149219651 0.01511
NM_017617.5(NOTCH1):c.4129C>T (p.Pro1377Ser) rs61751542 0.01511
NM_004006.3(DMD):c.3705C>T (p.Ala1235=) rs143628111 0.01510
NM_022124.6(CDH23):c.4341T>C (p.Asp1447=) rs12218564 0.01509
NM_004006.3(DMD):c.832-18C>G rs72470515 0.01505
NM_020366.4(RPGRIP1):c.1793G>A (p.Arg598Gln) rs74034910 0.01504
NM_014927.5(CNKSR2):c.651A>G (p.Gln217=) rs77732468 0.01503
NM_023110.3(FGFR1):c.2187-6C>T rs4647904 0.01503
NM_000271.5(NPC1):c.2514+6C>T rs73392120 0.01501
NM_001110556.2(FLNA):c.1286C>T (p.Thr429Met) rs36051194 0.01499
NM_004380.3(CREBBP):c.1953T>C (p.Tyr651=) rs130003 0.01499
NM_000021.4(PSEN1):c.953A>G (p.Glu318Gly) rs17125721 0.01497
NM_000180.4(GUCY2D):c.1724C>T (p.Pro575Leu) rs28743021 0.01496
NM_004006.3(DMD):c.4344+17A>T rs72468646 0.01496
NM_006208.3(ENPP1):c.2002G>A (p.Glu668Lys) rs115371819 0.01496
NM_153240.5(NPHP3):c.1986G>A (p.Arg662=) rs77533254 0.01496
NM_000520.6(HEXA):c.672+30T>G rs117160567 0.01494
NM_001379081.2(FREM1):c.4466G>A (p.Arg1489Gln) rs61732355 0.01493
NM_000202.8(IDS):c.641C>T (p.Thr214Met) rs61736892 0.01492
NM_003482.4(KMT2D):c.11610G>A (p.Met3870Ile) rs73302195 0.01486
NM_001319074.4(RAX2):c.155C>T (p.Pro52Leu) rs76076446 0.01485
NM_032322.4(RNF135):c.344G>A (p.Arg115Lys) rs111902263 0.01483
NM_000523.4(HOXD13):c.393C>T (p.Phe131=) rs847195 0.01482
NM_000290.4(PGAM2):c.216C>T (p.Asp72=) rs111656877 0.01481
NM_000124.4(ERCC6):c.528A>G (p.Arg176=) rs4253027 0.01480
NM_017617.5(NOTCH1):c.*6G>A rs73668310 0.01480
NM_005802.5(TOPORS):c.2245A>G (p.Asn749Asp) rs17857515 0.01479
NM_000784.4(CYP27A1):c.1151C>T (p.Pro384Leu) rs41272687 0.01478
NM_002693.3(POLG):c.128A>G (p.Gln43Arg) rs28567406 0.01478
NM_001277313.2(FMN1):c.2374G>A (p.Asp792Asn) rs61736694 0.01476
NM_004977.3(KCNC3):c.1929C>T (p.Gly643=) rs111744086 0.01476
NM_024079.5(ALG8):c.803G>A (p.Arg268Gln) rs61995925 0.01476
NM_001278116.2(L1CAM):c.1704-14C>T rs140240430 0.01472
NM_080916.3(DGUOK):c.509A>G (p.Gln170Arg) rs74874677 0.01472
NM_000098.3(CPT2):c.1055T>G (p.Phe352Cys) rs2229291 0.01469
NM_005676.5(RBM10):c.1269T>C (p.Gly423=) rs143203694 0.01463
NM_005957.5(MTHFR):c.1958C>T (p.Thr653Met) rs35737219 0.01462
NM_006950.3(SYN1):c.1699A>G (p.Thr567Ala) rs200533370 0.01462
NM_006208.3(ENPP1):c.1831C>G (p.Leu611Val) rs79079368 0.01455
NM_201384.3(PLEC):c.13205C>T (p.Thr4402Met) rs113513807 0.01455
NM_000051.4(ATM):c.3161C>G (p.Pro1054Arg) rs1800057 0.01452
NM_000492.4(CFTR):c.*1043A>C rs10234329 0.01452
NM_001384732.1(CPLANE1):c.1125A>G (p.Pro375=) rs61745362 0.01450
NM_000441.2(SLC26A4):c.2218G>A (p.Gly740Ser) rs17154353 0.01449
NM_144997.7(FLCN):c.1176+31G>A rs41340844 0.01448
NM_000642.3(AGL):c.1160G>A (p.Arg387Gln) rs17121464 0.01447
NM_004380.3(CREBBP):c.2974G>A (p.Val992Ile) rs61731383 0.01447
NM_020822.3(KCNT1):c.3502+16G>A rs112116686 0.01447
NM_144773.4(PROKR2):c.802C>T (p.Arg268Cys) rs78861628 0.01447
NM_001379270.1(CNGA1):c.300A>G (p.Glu100=) rs76061451 0.01445
NM_015046.7(SETX):c.2975A>G (p.Lys992Arg) rs61742937 0.01445
NM_001277313.2(FMN1):c.2929G>A (p.Glu977Lys) rs150962800 0.01444
NM_000404.4(GLB1):c.1824G>C (p.Leu608=) rs77226678 0.01441
NM_001330260.2(SCN8A):c.1833G>T (p.Arg611=) rs35242963 0.01438
NM_000388.4(CASR):c.1333A>G (p.Thr445Ala) rs12493789 0.01436
NM_002206.3(ITGA7):c.1965T>C (p.Cys655=) rs7971022 0.01436
NM_006005.3(WFS1):c.9C>T (p.Ser3=) rs71524363 0.01435
NM_173660.5(DOK7):c.1351C>T (p.Arg451Trp) rs16844470 0.01433
NM_000275.3(OCA2):c.1844A>G (p.His615Arg) rs1800414 0.01432
NM_000251.3(MSH2):c.1077-10T>C rs17224360 0.01428
NM_001267550.2(TTN):c.92191A>G (p.Ile30731Val) rs16866391 0.01426
NM_001297.5(CNGB1):c.712G>A (p.Gly238Ser) rs61745888 0.01420
NM_153717.3(EVC):c.2279G>A (p.Arg760Gln) rs2279252 0.01416
NM_031885.5(BBS2):c.1413A>C (p.Val471=) rs35294865 0.01415
NM_173660.5(DOK7):c.1143C>T (p.Pro381=) rs56769879 0.01415
NM_139343.3(BIN1):c.1362G>T (p.Gly454=) rs61748155 0.01414
NM_004360.5(CDH1):c.1849G>A (p.Ala617Thr) rs33935154 0.01412
NM_001377.3(DYNC2H1):c.1233A>G (p.Gln411=) rs116888435 0.01403
NM_001267550.2(TTN):c.58933C>T (p.Leu19645=) rs2303836 0.01401
NM_002471.4(MYH6):c.3979-7del rs397516766 0.01401
NM_012186.3(FOXE3):c.146G>C (p.Gly49Ala) rs566961335 0.01396
NM_000051.4(ATM):c.2614C>T (p.Pro872Ser) rs3218673 0.01393
NM_001029883.3(PCARE):c.1844T>A (p.Val615Asp) rs140776870 0.01391
NM_000543.5(SMPD1):c.1763C>T (p.Thr588Met) rs35785620 0.01390
NM_020247.5(COQ8A):c.993C>T (p.Phe331=) rs41303129 0.01390
NM_004560.4(ROR2):c.75G>A (p.Leu25=) rs148237260 0.01389
NM_201384.3(PLEC):c.4557G>A (p.Ser1519=) rs79705634 0.01389
NM_000543.5(SMPD1):c.887G>A (p.Arg296Gln) rs35824453 0.01388
NM_004369.4(COL6A3):c.3054C>T (p.Asn1018=) rs34367758 0.01387
NM_004369.4(COL6A3):c.9411T>C (p.Cys3137=) rs112290343 0.01385
NM_000179.3(MSH6):c.1164C>T (p.His388=) rs55708305 0.01384
NM_000048.4(ASL):c.978+46G>T rs117651205 0.01383
NM_000048.4(ASL):c.1164C>T (p.His388=) rs75300185 0.01380
NM_000110.4(DPYD):c.1601G>A (p.Ser534Asn) rs1801158 0.01380
NM_001297.5(CNGB1):c.606A>G (p.Glu202=) rs76788887 0.01379
NM_001848.3(COL6A1):c.1443G>A (p.Glu481=) rs80244281 0.01378
NM_004369.4(COL6A3):c.3420G>A (p.Thr1140=) rs35489467 0.01378
NM_024753.5(TTC21B):c.2385G>C (p.Leu795=) rs80225158 0.01377
NM_206933.4(USH2A):c.15091C>T (p.Arg5031Trp) rs56038610 0.01377
NM_201384.3(PLEC):c.6577C>T (p.Leu2193=) rs28610521 0.01376
NM_000540.3(RYR1):c.7835+7C>T rs114522234 0.01374
NM_003923.3(FOXH1):c.450C>T (p.His150=) rs2721177 0.01374
NM_001082971.2(DDC):c.629C>T (p.Pro210Leu) rs6262 0.01372
NM_198253.3(TERT):c.3184G>A (p.Ala1062Thr) rs35719940 0.01370
NM_002103.5(GYS1):c.1246A>G (p.Met416Val) rs5447 0.01369
NM_001164508.2(NEB):c.195G>A (p.Pro65=) rs79524813 0.01367
NM_003036.4(SKI):c.99C>G (p.Gly33=) rs200019352 0.01364
NM_000179.3(MSH6):c.2272C>T (p.Leu758=) rs56371757 0.01363
NM_022039.4(FBXW4):c.472G>C (p.Ala158Pro) rs111600818 0.01363
NM_153676.4(USH1C):c.388G>A (p.Val130Ile) rs55843567 0.01363
NM_003482.4(KMT2D):c.6807C>T (p.Ser2269=) rs73302197 0.01361
NM_017780.4(CHD7):c.307T>A (p.Ser103Thr) rs41272435 0.01358
NM_000282.4(PCCA):c.1429+7A>G rs16957276 0.01356
NM_001122630.2(CDKN1C):c.495G>C (p.Ala165=) rs533485167 0.01351
NM_020751.3(COG6):c.898C>T (p.His300Tyr) rs34555836 0.01351
NM_138694.4(PKHD1):c.11174+11A>G rs115072237 0.01349
NM_007294.4(BRCA1):c.4956G>A (p.Met1652Ile) rs1799967 0.01348
NM_000368.5(TSC1):c.1760A>G (p.Lys587Arg) rs118203576 0.01347
NM_000017.4(ACADS):c.360C>T (p.Asn120=) rs76543640 0.01346
NM_012434.5(SLC17A5):c.886G>A (p.Val296Ile) rs16883930 0.01342
NM_025219.3(DNAJC5):c.144C>T (p.Pro48=) rs113987077 0.01342
NM_001195553.2(DCX):c.947-46T>C rs113181679 0.01340
NM_001365536.1(SCN9A):c.2827A>C (p.Met943Leu) rs12478318 0.01339
NM_017882.3(CLN6):c.486+8C>T rs149692285 0.01339
NM_170682.4(P2RX2):c.554+14C>A rs151253585 0.01337
NM_004369.4(COL6A3):c.8822C>T (p.Ala2941Val) rs11903206 0.01334
NM_153033.5(KCTD7):c.654C>T (p.Asp218=) rs117194263 0.01331
NM_001015880.2(PAPSS2):c.28G>A (p.Glu10Lys) rs17173698 0.01330
NM_001365536.1(SCN9A):c.3004G>T (p.Val1002Leu) rs4369876 0.01322
NM_006950.3(SYN1):c.152C>G (p.Ala51Gly) rs187134574 0.01317
NM_206933.4(USH2A):c.11677C>A (p.Pro3893Thr) rs41303285 0.01316
NM_000138.5(FBN1):c.3442C>G (p.Pro1148Ala) rs140598 0.01315
NM_206933.4(USH2A):c.1434G>C (p.Glu478Asp) rs35730265 0.01315
NM_001370259.2(MEN1):c.512G>A (p.Arg171Gln) rs607969 0.01309
NM_003000.3(SDHB):c.8C>G (p.Ala3Gly) rs11203289 0.01309
NM_023110.3(FGFR1):c.2314C>T (p.Pro772Ser) rs56234888 0.01307
NM_000263.4(NAGLU):c.764+19C>G rs77738617 0.01306
NM_001061.7(TBXAS1):c.1345G>A (p.Glu449Lys) rs8192868 0.01306
NM_000271.5(NPC1):c.1300C>T (p.Pro434Ser) rs61731962 0.01305
NM_000352.6(ABCC8):c.3329+6C>T rs113873225 0.01304
NM_012448.4(STAT5B):c.2237+15T>C rs113762956 0.01303
NM_201384.3(PLEC):c.7110C>T (p.Ala2370=) rs80143277 0.01298
NM_024753.5(TTC21B):c.665A>T (p.Gln222Leu) rs80026831 0.01296
NM_016156.6(MTMR2):c.1634A>G (p.Asn545Ser) rs558018 0.01295
NM_024753.5(TTC21B):c.838A>G (p.Met280Val) rs112868646 0.01295
NM_001164277.2(SLC37A4):c.626+14C>T rs56394886 0.01293
NM_138694.4(PKHD1):c.8673C>G (p.Arg2891=) rs116098879 0.01291
NM_005249.5(FOXG1):c.*13C>A rs151157846 0.01290
NM_000209.4(PDX1):c.162G>A (p.Leu54=) rs28509441 0.01287
NM_001029883.3(PCARE):c.3291G>A (p.Gln1097=) rs183536545 0.01287
NM_014336.5(AIPL1):c.286G>A (p.Val96Ile) rs62619924 0.01285
NM_000433.4(NCF2):c.890T>C (p.Val297Ala) rs35937854 0.01284
NM_014251.3(SLC25A13):c.1671C>T (p.Thr557=) rs79886797 0.01284
NM_000059.4(BRCA2):c.8830A>T (p.Ile2944Phe) rs4987047 0.01281
NM_001848.3(COL6A1):c.2042T>C (p.Ile681Thr) rs138884734 0.01280
NM_002047.4(GARS1):c.11C>T (p.Pro4Leu) rs62636572 0.01280
NM_019066.5(MAGEL2):c.901C>T (p.Pro301Ser) rs138154793 0.01279
NM_000174.5(GP9):c.466G>A (p.Ala156Thr) rs3796130 0.01277
NM_001142800.2(EYS):c.9030A>G (p.Ala3010=) rs61754905 0.01277
NM_000546.6(TP53):c.639A>G (p.Arg213=) rs1800372 0.01275
NM_206965.2(FTCD):c.906+15C>T rs76474184 0.01274
NM_000077.5(CDKN2A):c.-25C>T rs144481587 0.01273
NM_004553.4(NDUFS6):c.-12C>T rs145747389 0.01272
NM_031900.4(AGXT2):c.1188+1G>A rs114286107 0.01270
NM_000352.6(ABCC8):c.3612C>T (p.Ala1204=) rs149861153 0.01269
NM_001159699.2(FHL1):c.737-13T>C rs11798700 0.01269
NM_001017995.3(SH3PXD2B):c.1063-8C>T rs76931006 0.01268
NM_001164508.2(NEB):c.8592T>C (p.Asp2864=) rs61730772 0.01264
NM_001267550.2(TTN):c.23001G>A (p.Thr7667=) rs16866467 0.01263
NM_002282.3(KRT83):c.601G>T (p.Glu201Ter) rs146753414 0.01263
NM_022089.4(ATP13A2):c.1617G>T (p.Leu539=) rs61739752 0.01259
NM_001110556.2(FLNA):c.2433C>T (p.Ala811=) rs35986650 0.01258
NM_001110556.2(FLNA):c.4598+8G>C rs112379782 0.01252
NM_000271.5(NPC1):c.2103C>T (p.Asn701=) rs7227375 0.01251
NM_000426.4(LAMA2):c.1798G>A (p.Gly600Arg) rs36044314 0.01250
NM_004560.4(ROR2):c.2727G>A (p.Val909=) rs56091954 0.01249
NM_020822.3(KCNT1):c.2210C>T (p.Thr737Met) rs61744696 0.01246
NM_001127649.3(PEX26):c.*10C>T rs117472525 0.01244
NM_001128228.3(TPRN):c.1138G>T (p.Ala380Ser) rs190167940 0.01244
NM_000383.4(AIRE):c.652+14C>T rs41277546 0.01242
NM_001371623.1(TCOF1):c.1229C>T (p.Ser410Leu) rs114326915 0.01242
NM_001128225.3(SLC39A13):c.119G>A (p.Arg40Gln) rs35741412 0.01241
NM_022132.5(MCCC2):c.1574+37C>G rs138725621 0.01241
NM_001017995.3(SH3PXD2B):c.1063-9T>C rs189684298 0.01238
NM_004385.5(VCAN):c.8622G>A (p.Ala2874=) rs3096171 0.01237
NM_012193.4(FZD4):c.97C>T (p.Pro33Ser) rs61735304 0.01236
NM_015102.5(NPHP4):c.2808G>A (p.Thr936=) rs17028857 0.01235
NM_000108.5(DLD):c.675T>C (p.Gly225=) rs73726765 0.01233
NM_024740.2(ALG9):c.764C>T (p.Ser255Leu) rs17113312 0.01232
NM_001848.3(COL6A1):c.97+20G>A rs114178849 0.01230
NM_000540.3(RYR1):c.10747G>C (p.Glu3583Gln) rs55876273 0.01228
NM_201384.3(PLEC):c.2305-10del rs142120912 0.01228
NM_024408.4(NOTCH2):c.4305G>A (p.Arg1435=) rs6692009 0.01225
NM_002435.3(MPI):c.345+16C>T rs143242949 0.01224
NM_032409.3(PINK1):c.1426G>A (p.Glu476Lys) rs115477764 0.01222
NM_000059.4(BRCA2):c.8460A>C (p.Val2820=) rs9590940 0.01220
NM_001034116.2(EIF2B4):c.1233C>T (p.Asn411=) rs1058065 0.01220
NM_005609.4(PYGM):c.1569C>G (p.Leu523=) rs114138772 0.01217
NM_000686.5(AGTR2):c.743G>A (p.Arg248Lys) rs5191 0.01214
NM_001267550.2(TTN):c.70696G>C (p.Gly23566Arg) rs55801134 0.01212
NM_004006.3(DMD):c.3021G>A (p.Ser1007=) rs1800268 0.01212
NM_000436.4(OXCT1):c.480G>T (p.Gly160=) rs78432029 0.01211
NM_024312.5(GNPTAB):c.2611G>A (p.Gly871Ser) rs56212569 0.01207
NM_002863.5(PYGL):c.2416A>T (p.Ile806Leu) rs34313873 0.01205
NM_015340.4(LARS2):c.2493G>T (p.Glu831Asp) rs9827689 0.01205
NM_020166.5(MCCC1):c.1614G>A (p.Ser538=) rs34749281 0.01204
NM_000548.5(TSC2):c.1100G>A (p.Arg367Gln) rs1800725 0.01203
NM_004369.4(COL6A3):c.1389C>T (p.Ala463=) rs112896869 0.01203
NM_020223.4(FAM20C):c.46G>T (p.Val16Leu) rs150401144 0.01203
NM_022089.4(ATP13A2):c.881G>A (p.Arg294Gln) rs56367069 0.01203
NM_000271.5(NPC1):c.3246-20G>A rs6507717 0.01199
NM_001848.3(COL6A1):c.2061C>A (p.Leu687=) rs8132678 0.01197
NM_006949.4(STXBP2):c.795-4C>T rs151257815 0.01197
NM_022168.4(IFIH1):c.2767A>G (p.Ile923Val) rs35667974 0.01195
NM_000070.3(CAPN3):c.62G>A (p.Gly21Glu) rs28364364 0.01193
NM_000033.4(ABCD1):c.2019C>T (p.Phe673=) rs76637913 0.01192
NM_016239.4(MYO15A):c.3023C>G (p.Thr1008Ser) rs143316414 0.01192
NM_206933.4(USH2A):c.688G>A (p.Val230Met) rs45500891 0.01191
NM_138694.4(PKHD1):c.10585G>C (p.Glu3529Gln) rs145184792 0.01187
NM_001370658.1(BTD):c.1224C>T (p.Tyr408=) rs35145938 0.01185
NM_000335.5(SCN5A):c.1571C>A (p.Ser524Tyr) rs41313691 0.01184
NM_003835.4(RGS9):c.1502G>A (p.Arg501His) rs34797451 0.01184
NM_001848.3(COL6A1):c.859-20C>T rs78884675 0.01182
NM_001851.6(COL9A1):c.2271G>A (p.Pro757=) rs2072650 0.01180
NM_001848.3(COL6A1):c.717+32C>T rs114454809 0.01179
NM_000489.6(ATRX):c.4557+33G>A rs5912716 0.01177
NM_005045.4(RELN):c.3839G>A (p.Gly1280Glu) rs55689103 0.01176
NM_001159699.2(FHL1):c.871G>A (p.Asp291Asn) rs151315725 0.01175
NM_004727.3(SLC24A1):c.931G>C (p.Val311Leu) rs34363823 0.01175
NM_000038.6(APC):c.3732A>G (p.Gln1244=) rs74380081 0.01174
NM_001184.4(ATR):c.5739-7_5739-6del rs72371423 0.01173
NM_006516.4(SLC2A1):c.19-207T>C rs41310434 0.01173
NM_022124.6(CDH23):c.1423G>A (p.Val475Met) rs62622410 0.01173
NM_001267550.2(TTN):c.20602G>A (p.Gly6868Arg) rs17355460 0.01172
NM_020717.5(SHROOM4):c.3734C>T (p.Ser1245Leu) rs12689863 0.01172
NM_000193.4(SHH):c.630C>T (p.Gly210=) rs9333634 0.01171
NM_000038.6(APC):c.1695A>G (p.Glu565=) rs77921116 0.01170
NM_198525.3(KIF7):c.1895C>T (p.Pro632Leu) rs115857753 0.01168
NM_001177316.2(SLC34A3):c.539G>C (p.Gly180Ala) rs35643193 0.01167
NM_012463.4(ATP6V0A2):c.2549A>G (p.Asn850Ser) rs75279884 0.01166
NM_001848.3(COL6A1):c.958-17G>A rs79364611 0.01165
NM_033028.5(BBS4):c.*1G>C rs113678046 0.01165
NM_006736.6(DNAJB2):c.808G>C (p.Gly270Arg) rs34127289 0.01163
NM_017617.5(NOTCH1):c.2664C>T (p.His888=) rs61751548 0.01162
NM_000249.4(MLH1):c.474C>T (p.Asn158=) rs4647256 0.01161
NM_138694.4(PKHD1):c.11878G>A (p.Val3960Ile) rs34548196 0.01161
NM_152419.3(HGSNAT):c.1727-9C>G rs76750342 0.01160
NM_000512.5(GALNS):c.1413C>T (p.Val471=) rs73251084 0.01159
NM_001166114.2(PNPLA6):c.2706C>T (p.Gly902=) rs113264142 0.01159
NM_000070.3(CAPN3):c.2433T>C (p.Val811=) rs28364543 0.01154
NM_138694.4(PKHD1):c.8174-18T>A rs111383080 0.01154
NM_000249.4(MLH1):c.1039-8T>A rs193922367 0.01153
NM_000051.4(ATM):c.4258C>T (p.Leu1420Phe) rs1800058 0.01150
NM_001122659.3(EDNRB):c.561C>T (p.Ile187=) rs5349 0.01149
NM_001849.4(COL6A2):c.2592G>A (p.Thr864=) rs1042930 0.01149
NM_004369.4(COL6A3):c.768C>T (p.Val256=) rs79606264 0.01148
NM_012463.4(ATP6V0A2):c.1606-12G>A rs112415338 0.01148
NM_000038.6(APC):c.730-29A>T rs75083764 0.01144
NM_000070.3(CAPN3):c.1116-5A>G rs28364467 0.01144
NM_000550.3(TYRP1):c.1557T>G (p.Tyr519Ter) rs41302073 0.01144
NM_153704.6(TMEM67):c.781G>A (p.Asp261Asn) rs35793208 0.01141
NM_003482.4(KMT2D):c.8047-15C>T rs202244933 0.01140
NM_000203.5(IDUA):c.1174C>T (p.Leu392=) rs201682298 0.01139
NM_000071.3(CBS):c.304A>C (p.Lys102Gln) rs34040148 0.01138
NM_018941.4(CLN8):c.274C>T (p.His92Tyr) rs34030778 0.01138
NM_000632.4(ITGAM):c.2999C>A (p.Thr1000Asn) rs41321249 0.01137
NM_003482.4(KMT2D):c.5976G>A (p.Glu1992=) rs77794669 0.01137
NM_017617.5(NOTCH1):c.2691C>T (p.Ala897=) rs11574895 0.01135
NM_000038.6(APC):c.7201C>T (p.Leu2401=) rs2229994 0.01134
NM_001374623.1(PNPLA1):c.1464T>A (p.Tyr488Ter) rs45621032 0.01134
NM_002381.5(MATN3):c.908C>T (p.Thr303Met) rs77245812 0.01128
NM_014491.4(FOXP2):c.741C>T (p.Gly247=) rs61732741 0.01128
NM_153240.5(NPHP3):c.57G>C (p.Thr19=) rs192633696 0.01128
NM_000489.6(ATRX):c.288A>G (p.Lys96=) rs45574238 0.01127
NM_018668.5(VPS33B):c.-8C>T rs11542639 0.01125
NM_000163.5(GHR):c.1319G>T (p.Cys440Phe) rs6182 0.01122
NM_004380.3(CREBBP):c.6621A>G (p.Gln2207=) rs55960450 0.01121
NM_000163.5(GHR):c.1735C>A (p.Pro579Thr) rs6184 0.01120
NM_001848.3(COL6A1):c.645G>A (p.Ala215=) rs115292913 0.01120
NM_000550.3(TYRP1):c.278G>A (p.Arg93His) rs61752937 0.01118
NM_201384.3(PLEC):c.7266C>T (p.Leu2422=) rs117306121 0.01118
NM_004333.6(BRAF):c.-19C>T rs71645935 0.01115
NM_014491.4(FOXP2):c.531A>G (p.Gln177=) rs111801240 0.01115
NM_201384.3(PLEC):c.3192C>T (p.Arg1064=) rs73377210 0.01114
NM_000392.5(ABCC2):c.3872C>T (p.Pro1291Leu) rs17216317 0.01113
NM_181303.2(NLGN3):c.2250C>T (p.Ala750=) rs5981083 0.01113
NM_001199107.2(TBC1D24):c.1509C>T (p.Ser503=) rs189089167 0.01110
NM_017534.6(MYH2):c.2967A>G (p.Ala989=) rs113190032 0.01110
NM_001122659.3(EDNRB):c.914G>A (p.Ser305Asn) rs5352 0.01109
NM_007294.4(BRCA1):c.3119G>A (p.Ser1040Asn) rs4986852 0.01109
NM_005477.3(HCN4):c.1839C>T (p.Phe613=) rs117731813 0.01108
NM_201599.3(ZMYM3):c.1008G>A (p.Ser336=) rs36002370 0.01108
NM_001256715.2(DNAAF3):c.323-17T>G rs10407660 0.01106
NM_001377.3(DYNC2H1):c.6478-6C>T rs114254215 0.01103
NM_014795.4(ZEB2):c.930C>T (p.Tyr310=) rs6711223 0.01102
NM_001164688.2(RD3):c.584A>T (p.Asp195Val) rs143207434 0.01101
NM_005670.4(EPM2A):c.163C>A (p.Gln55Lys) rs187930476 0.01101
NM_004006.3(DMD):c.1554T>A (p.Asp518Glu) rs61733587 0.01098
NM_175914.5(HNF4A):c.*167T>A rs11574744 0.01097
NM_001127649.3(PEX26):c.457C>G (p.Leu153Val) rs12484657 0.01096
NM_002241.5(KCNJ10):c.53G>A (p.Arg18Gln) rs115466046 0.01096
NM_017780.4(CHD7):c.4534-13T>G rs114996731 0.01094
NM_001048174.2(MUTYH):c.1517G>A (p.Arg506Gln) rs3219497 0.01092
NM_178452.6(DNAAF1):c.1769C>T (p.Thr590Met) rs34777958 0.01090
NM_001371596.2(MFSD8):c.1153G>C (p.Gly385Arg) rs11098943 0.01088
NM_004333.6(BRAF):c.78G>T (p.Glu26Asp) rs371877084 0.01088
NM_004380.3(CREBBP):c.3128C>T (p.Ser1043Leu) rs61731376 0.01088
NM_000321.3(RB1):c.380+12T>C rs3092881 0.01087
NM_022489.4(INF2):c.391+17G>A rs4074531 0.01087
NM_001278116.2(L1CAM):c.2872C>G (p.Leu958Val) rs35902890 0.01086
NM_014384.3(ACAD8):c.20G>C (p.Arg7Pro) rs35181923 0.01086
NM_004369.4(COL6A3):c.4727G>A (p.Arg1576Gln) rs61729839 0.01085
NM_001110556.2(FLNA):c.869-7C>T rs143311779 0.01084
NM_201384.3(PLEC):c.5477G>A (p.Arg1826Gln) rs147838690 0.01083
NM_017882.3(CLN6):c.34G>A (p.Ala12Thr) rs112239768 0.01081
NM_024301.5(FKRP):c.585C>T (p.Asp195=) rs75079578 0.01080
NM_000489.6(ATRX):c.-14G>A rs45472092 0.01079
NM_001267550.2(TTN):c.4034G>A (p.Gly1345Asp) rs36021856 0.01079
NM_002180.3(IGHMBP2):c.2439G>A (p.Ala813=) rs624147 0.01079
NM_004006.3(DMD):c.1225A>T (p.Thr409Ser) rs34155804 0.01079
NM_138694.4(PKHD1):c.7298A>T (p.Asp2433Val) rs76895755 0.01078
NM_004187.5(KDM5C):c.564G>A (p.Lys188=) rs61751437 0.01076
NM_001267550.2(TTN):c.104769A>C (p.Thr34923=) rs56375087 0.01075
NM_001184880.2(PCDH19):c.1137C>T (p.Gly379=) rs56277715 0.01073
NM_001267550.2(TTN):c.106787C>T (p.Thr35596Ile) rs55842557 0.01073
NM_000717.5(CA4):c.700G>A (p.Val234Ile) rs117704637 0.01071
NM_001128228.3(TPRN):c.858C>T (p.Cys286=) rs375619082 0.01068
NM_006005.3(WFS1):c.1726G>A (p.Gly576Ser) rs1805069 0.01068
NM_022367.4(SEMA4A):c.2044C>T (p.Pro682Ser) rs76381440 0.01066
NM_138694.4(PKHD1):c.3686G>C (p.Trp1229Ser) rs2499481 0.01066
NM_000152.5(GAA):c.1075+13C>T rs41292402 0.01065
NM_000535.7(PMS2):c.1557T>C (p.Tyr519=) rs6972869 0.01065
NM_005045.4(RELN):c.1799C>T (p.Ser600Phe) rs78008536 0.01065
NM_018139.3(DNAAF2):c.144C>A (p.Asn48Lys) rs116185352 0.01062
NM_000157.4(GBA1):c.1093G>A (p.Glu365Lys) rs2230288 0.01061
NM_004369.4(COL6A3):c.2419G>A (p.Ala807Thr) rs113155945 0.01061
NM_001130987.2(DYSF):c.2216+16C>T rs111389127 0.01060
NM_020451.3(SELENON):c.583G>A (p.Ala195Thr) rs115852080 0.01060
NM_003839.4(TNFRSF11A):c.6C>G (p.Ala2=) rs35589394 0.01059
NM_000441.2(SLC26A4):c.970A>T (p.Asn324Tyr) rs36039758 0.01056
NM_000059.4(BRCA2):c.8487+19A>G rs11571743 0.01055
NM_000271.5(NPC1):c.709C>T (p.Pro237Ser) rs80358251 0.01055
NM_007294.4(BRCA1):c.3418A>G (p.Ser1140Gly) rs2227945 0.01054
NM_000138.5(FBN1):c.3294C>T (p.Asp1098=) rs140587 0.01051
NM_001145809.2(MYH14):c.2841C>T (p.Arg947=) rs138987081 0.01050
NM_001189.4(NKX3-2):c.351C>G (p.Gly117=) rs145908097 0.01047
NM_138694.4(PKHD1):c.8606C>A (p.Thr2869Lys) rs142522748 0.01047
NM_001111.5(ADAR):c.1760A>G (p.Tyr587Cys) rs17843865 0.01046
NM_000036.3(AMPD1):c.1224+8G>A rs140176911 0.01045
NM_001105206.3(LAMA4):c.3239G>A (p.Arg1080Gln) rs41289902 0.01045
NM_004006.3(DMD):c.7310-36C>T rs72466586 0.01045
NM_001004334.4(GPR179):c.2392G>A (p.Ala798Thr) rs78470373 0.01044
NM_004260.4(RECQL4):c.161A>G (p.Gln54Arg) rs35198096 0.01041
NM_153427.3(PITX2):c.46+8C>G rs199896960 0.01041
NM_001278116.2(L1CAM):c.720G>A (p.Pro240=) rs35151382 0.01040
NM_005045.4(RELN):c.5284G>A (p.Val1762Ile) rs79499902 0.01040
NM_022124.6(CDH23):c.4858G>A (p.Val1620Met) rs41281330 0.01037
NM_153240.5(NPHP3):c.154G>A (p.Ala52Thr) rs145643112 0.01037
NM_003659.4(AGPS):c.147C>T (p.Pro49=) rs34442536 0.01033
NM_000098.3(CPT2):c.1767G>A (p.Thr589=) rs77565483 0.01032
NM_053025.4(MYLK):c.1327C>T (p.Pro443Ser) rs35156360 0.01032
NM_000350.3(ABCA4):c.6529G>A (p.Asp2177Asn) rs1800555 0.01028
NM_006517.5(SLC16A2):c.123C>T (p.Pro41=) rs369603991 0.01028
NM_006949.4(STXBP2):c.1034C>T (p.Thr345Met) rs117761837 0.01028
NM_020975.6(RET):c.868-18G>A rs57098408 0.01028
NM_003863.4(DPM2):c.183G>A (p.Leu61=) rs11552794 0.01027
NM_000070.3(CAPN3):c.551C>T (p.Thr184Met) rs35889956 0.01026
NM_004643.4(PABPN1):c.186G>A (p.Leu62=) rs188436762 0.01026
NM_000293.3(PHKB):c.555G>T (p.Met185Ile) rs56257827 0.01025
NM_003482.4(KMT2D):c.7670C>T (p.Pro2557Leu) rs189888707 0.01025
NM_004380.3(CREBBP):c.6609A>G (p.Gln2203=) rs62636220 0.01025
NM_006516.4(SLC2A1):c.973-17A>G rs111596088 0.01025
NM_012186.3(FOXE3):c.423G>A (p.Lys141=) rs145081583 0.01025
NM_000046.5(ARSB):c.98C>T (p.Ala33Val) rs201168448 0.01022
NM_020366.4(RPGRIP1):c.2417C>T (p.Thr806Ile) rs142796310 0.01022
NM_000512.5(GALNS):c.1002+17C>T rs78494153 0.01020
NM_001849.4(COL6A2):c.2983G>A (p.Ala995Thr) rs35139588 0.01019
NM_007317.3(KIF22):c.1951-13_1951-10del rs201550112 0.01016
NM_000074.3(CD40LG):c.655G>A (p.Gly219Arg) rs148594123 0.01015
NM_001927.4(DES):c.638C>T (p.Ala213Val) rs41272699 0.01015
NM_004369.4(COL6A3):c.4005C>T (p.Gly1335=) rs34503558 0.01014
NM_001267550.2(TTN):c.39082G>A (p.Val13028Met) rs73038314 0.01013
NM_014491.4(FOXP2):c.570A>G (p.Gln190=) rs61758964 0.01012
NM_007214.5(SEC63):c.340-12del rs58827902 0.01010
NM_004006.3(DMD):c.3734C>T (p.Thr1245Ile) rs1800269 0.01009
NM_020549.5(CHAT):c.2067C>T (p.Ile689=) rs3793801 0.01009
NM_001848.3(COL6A1):c.2441A>G (p.Lys814Arg) rs11553518 0.01008
NM_000535.7(PMS2):c.1789A>T (p.Thr597Ser) rs1805318 0.01006
NM_153426.3(PITX2):c.46+8_46+9insTT rs571056388 0.01006
NM_206933.4(USH2A):c.11928G>A (p.Thr3976=) rs55961436 0.01005
NM_004260.4(RECQL4):c.2238G>A (p.Ala746=) rs35215952 0.01004
NM_000334.4(SCN4A):c.2717G>C (p.Ser906Thr) rs41280102 0.01003
NM_002335.4(LRP5):c.4574C>T (p.Ala1525Val) rs1127291 0.01003
NM_014384.3(ACAD8):c.210+6C>T rs148089913 0.01003
NM_020433.5(JPH2):c.1513G>A (p.Gly505Ser) rs140740776 0.01003
NM_000388.4(CASR):c.2610G>A (p.Glu870=) rs143738711 0.01002
NM_000441.2(SLC26A4):c.1002-9A>C rs10234822 0.01002
NM_001079802.2(FKTN):c.42G>A (p.Thr14=) rs78794935 0.01002
NM_005120.3(MED12):c.5535C>T (p.Asn1845=) rs34784349 0.01002
NM_000071.3(CBS):c.531+34G>T rs149674796 0.01001
NM_001079802.2(FKTN):c.106-40A>G rs79175958 0.01001
NM_004006.3(DMD):c.8668+19A>G rs148241865 0.01001
NM_001079802.2(FKTN):c.106-10G>A rs148384394 0.01000
NM_001114753.3(ENG):c.572G>A (p.Gly191Asp) rs41322046 0.01000
NM_004369.4(COL6A3):c.4184G>A (p.Arg1395Gln) rs80272723 0.01000
NM_004380.3(CREBBP):c.459G>A (p.Pro153=) rs56388626 0.01000
NM_017617.5(NOTCH1):c.6648G>A (p.Pro2216=) rs3812596 0.01000
NM_198506.5(LRIT3):c.565C>T (p.Leu189Phe) rs75301950 0.01000
NM_000452.3(SLC10A2):c.868C>T (p.Pro290Ser) rs56398830 0.00998
NM_001849.4(COL6A2):c.832G>A (p.Glu278Lys) rs61735835 0.00998
NM_001048174.2(MUTYH):c.1460C>T (p.Ser487Phe) rs140118273 0.00997
NM_001184880.2(PCDH19):c.6G>A (p.Glu2=) rs184883626 0.00997
NM_000500.9(CYP21A2):c.188A>T (p.His63Leu) rs9378252 0.00995
NM_017739.4(POMGNT1):c.1666G>A (p.Asp556Asn) rs74374973 0.00994
NM_000249.4(MLH1):c.588+11G>C rs4647258 0.00993
NM_001371623.1(TCOF1):c.2245C>T (p.Pro749Ser) rs73270846 0.00993
NM_001034116.2(EIF2B4):c.1372+13A>C rs78914478 0.00992
NM_213599.3(ANO5):c.1029C>T (p.Asp343=) rs78899595 0.00992
NM_003361.4(UMOD):c.538C>G (p.Leu180Val) rs187555378 0.00991
NM_001360.3(DHCR7):c.99-4G>A rs140748737 0.00988
NM_004385.5(VCAN):c.899C>T (p.Ser300Leu) rs2652098 0.00988
NM_005199.5(CHRNG):c.951C>A (p.Ile317=) rs75369104 0.00988
NM_000297.4(PKD2):c.1359A>G (p.Pro453=) rs17013754 0.00985
NM_000515.5(GH1):c.116C>T (p.Ala39Val) rs151263636 0.00985
NM_006269.2(RP1):c.1118C>T (p.Thr373Ile) rs77775126 0.00985
NM_000059.4(BRCA2):c.7319A>G (p.His2440Arg) rs4986860 0.00984
NM_001876.4(CPT1A):c.556-19T>G rs117610994 0.00984
NM_004456.5(EZH2):c.485-7G>A rs112932272 0.00984
NM_005477.3(HCN4):c.3337A>G (p.Met1113Val) rs142735148 0.00983
NM_001077365.2(POMT1):c.2137C>T (p.Arg713Cys) rs147266709 0.00982
NM_001849.4(COL6A2):c.1552C>T (p.Pro518Ser) rs141166141 0.00982
NM_015102.5(NPHP4):c.3876C>T (p.Gly1292=) rs115526767 0.00982
NM_001927.4(DES):c.1375G>A (p.Val459Ile) rs73991549 0.00981
NM_001077365.2(POMT1):c.78G>A (p.Gly26=) rs149554732 0.00980
NM_024740.2(ALG9):c.132-13T>G rs72994380 0.00979
NM_198428.3(BBS9):c.1646C>T (p.Thr549Ile) rs59252892 0.00979
NM_000052.7(ATP7A):c.327G>A (p.Lys109=) rs61747968 0.00978
NM_005529.7(HSPG2):c.5702-5G>A rs2290498 0.00977
NM_000540.3(RYR1):c.7737G>A (p.Val2579=) rs114975624 0.00971
NM_015311.3(OBSL1):c.119C>G (p.Pro40Arg) rs191256186 0.00971
NM_213599.3(ANO5):c.604G>A (p.Glu202Lys) rs115750596 0.00971
NM_001278116.2(L1CAM):c.28C>T (p.Pro10Ser) rs144605615 0.00970
NM_001374353.1(GLI2):c.4003A>G (p.Met1335Val) rs149140724 0.00970
NM_000026.4(ADSL):c.124C>T (p.Leu42=) rs2228415 0.00969
NM_201384.3(PLEC):c.2832C>T (p.Gly944=) rs145050858 0.00969
NM_001267550.2(TTN):c.43603C>T (p.Arg14535Cys) rs12471771 0.00967
NM_001374353.1(GLI2):c.4507G>A (p.Asp1503Asn) rs114814747 0.00964
NM_007294.4(BRCA1):c.2458A>G (p.Lys820Glu) rs56082113 0.00964
NM_000719.7(CACNA1C):c.5604A>G (p.Gln1868=) rs11062316 0.00963
NM_001130823.3(DNMT1):c.290A>G (p.His97Arg) rs16999593 0.00959
NM_025137.4(SPG11):c.3037A>G (p.Lys1013Glu) rs111347025 0.00958
NM_002529.4(NTRK1):c.53G>A (p.Gly18Glu) rs1007211 0.00957
NM_015295.3(SMCHD1):c.873+7T>C rs114242799 0.00957
NM_206933.4(USH2A):c.12445T>C (p.Trp4149Arg) rs115884084 0.00956
NM_004385.5(VCAN):c.9104C>T (p.Ala3035Val) rs111512368 0.00955
NM_001324144.2(ZNF41):c.945T>G (p.Asp315Glu) rs2498170 0.00954
NM_001083961.2(WDR62):c.2975C>T (p.Ser992Leu) rs74518295 0.00953
NM_004944.4(DNASE1L3):c.244G>C (p.Gly82Arg) rs74350392 0.00953
NM_000404.4(GLB1):c.1306C>T (p.Leu436Phe) rs34421970 0.00952
NM_012418.4(FSCN2):c.309G>A (p.Arg103=) rs34126129 0.00952
NM_022124.6(CDH23):c.1038G>A (p.Pro346=) rs74608315 0.00950
NM_147127.5(EVC2):c.-19T>C rs188508515 0.00949
NM_000548.5(TSC2):c.5321G>C (p.Ser1774Thr) rs9209 0.00948
NM_021098.3(CACNA1H):c.6234C>T (p.Cys2078=) rs59844753 0.00947
NM_007254.4(PNKP):c.58C>T (p.Pro20Ser) rs3739168 0.00946
NM_001130987.2(DYSF):c.3757-12C>T rs114968209 0.00943
NM_001184880.2(PCDH19):c.81C>T (p.Tyr27=) rs56307810 0.00942
NM_001277115.2(DNAH11):c.10739G>A (p.Arg3580His) rs34879202 0.00942
NM_001367624.2(ZNF469):c.1697C>T (p.Ala566Val) rs181785233 0.00939
NM_021625.5(TRPV4):c.33G>T (p.Gly11=) rs56092423 0.00939
NM_001136193.2(FASTKD2):c.-51A>G rs116297724 0.00938
NM_002225.5(IVD):c.88C>T (p.His30Tyr) rs73383128 0.00938
NM_003701.4(TNFSF11):c.147C>T (p.Phe49=) rs61735535 0.00938
NM_002076.4(GNS):c.21C>G (p.Ala7=) rs61743823 0.00937
NM_005876.5(SPEG):c.984C>T (p.Pro328=) rs187565836 0.00937
NM_001177316.2(SLC34A3):c.1009G>A (p.Gly337Ser) rs35699762 0.00936
NM_003482.4(KMT2D):c.5868-8C>T rs75783546 0.00934
NM_031433.4(MFRP):c.160C>G (p.Arg54Gly) rs139436396 0.00934
NM_001367624.2(ZNF469):c.2814G>A (p.Ala938=) rs140480823 0.00931
NM_005477.3(HCN4):c.3033T>G (p.Ser1011=) rs186728422 0.00931
NM_201384.3(PLEC):c.887G>A (p.Arg296Gln) rs138924815 0.00931
NM_000255.4(MMUT):c.711A>G (p.Pro237=) rs138085432 0.00930
NM_004260.4(RECQL4):c.1879-15C>A rs35126141 0.00929
NM_170707.4(LMNA):c.1158-44C>T rs141879453 0.00929
NM_006017.3(PROM1):c.55T>G (p.Ser19Ala) rs189108830 0.00928
NM_020822.3(KCNT1):c.3388G>A (p.Ala1130Thr) rs138421850 0.00928
NM_031220.4(PITPNM3):c.901-10G>C rs77580616 0.00927
NM_001848.3(COL6A1):c.1740+50C>T rs148205490 0.00926
NM_031471.6(FERMT3):c.405C>T (p.His135=) rs78810429 0.00926
NM_022042.4(SLC26A1):c.*878G>A rs147498923 0.00924
NM_000249.4(MLH1):c.1732-19T>A rs77120160 0.00923
NM_000521.4(HEXB):c.1258A>G (p.Ile420Val) rs77499935 0.00923
NM_001848.3(COL6A1):c.2424G>T (p.Gln808His) rs140547835 0.00922
NM_213599.3(ANO5):c.616A>G (p.Thr206Ala) rs78266558 0.00922
NM_003000.3(SDHB):c.487T>C (p.Ser163Pro) rs33927012 0.00921
NM_000018.4(ACADVL):c.1600G>A (p.Glu534Lys) rs2230180 0.00920
NM_138694.4(PKHD1):c.391-43T>A rs116414807 0.00920
NM_000018.4(ACADVL):c.623-8C>T rs144996066 0.00919
NM_020366.4(RPGRIP1):c.256C>T (p.Arg86Trp) rs62646879 0.00919
NM_033087.4(ALG2):c.17G>C (p.Gly6Ala) rs180849348 0.00918
NM_000038.6(APC):c.2608C>T (p.Pro870Ser) rs33974176 0.00917
NM_001360016.2(G6PD):c.645-17C>T rs5986875 0.00915
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_000552.5(VWF):c.5313G>T (p.Gly1771=) rs2229448 0.00914
NM_000249.4(MLH1):c.1959G>T (p.Leu653=) rs1800146 0.00913
NM_004260.4(RECQL4):c.2636C>A (p.Pro879His) rs137975310 0.00913
NM_000245.4(MET):c.2975C>T (p.Thr992Ile) rs56391007 0.00911
NM_006493.4(CLN5):c.579C>A (p.Asn193Lys) rs138611001 0.00910
NM_024301.5(FKRP):c.341C>G (p.Ala114Gly) rs143793528 0.00910
NM_000181.4(GUSB):c.162C>T (p.Asn54=) rs74975849 0.00909
NM_002834.5(PTPN11):c.854-30T>C rs144391508 0.00909
NM_000070.3(CAPN3):c.2332G>A (p.Asp778Asn) rs115311625 0.00908
NM_000719.7(CACNA1C):c.771C>T (p.Val257=) rs112315742 0.00908
NM_004415.4(DSP):c.5498A>T (p.Glu1833Val) rs78652302 0.00908
NM_005677.4(COLQ):c.291G>A (p.Ser97=) rs115201284 0.00908
NM_000492.4(CFTR):c.2898G>A (p.Thr966=) rs1800109 0.00907
NM_005413.4(SIX3):c.525G>A (p.Gln175=) rs116680477 0.00907
NM_001854.4(COL11A1):c.4140+10A>T rs187171126 0.00906
NM_004273.5(CHST3):c.1160G>A (p.Arg387His) rs145384892 0.00906
NM_153240.5(NPHP3):c.450G>A (p.Ala150=) rs78527322 0.00906
NM_000152.5(GAA):c.1551+42G>A rs115427918 0.00904
NM_007254.4(PNKP):c.1127-8C>T rs3739203 0.00901
NM_004369.4(COL6A3):c.6408+44A>G rs78398512 0.00900
NM_000744.7(CHRNA4):c.24G>C (p.Ala8=) rs6089898 0.00898
NM_182961.4(SYNE1):c.26209G>A (p.Gly8737Ser) rs2295191 0.00898
NM_003361.4(UMOD):c.1740+38C>T rs116674896 0.00897
NM_024301.5(FKRP):c.249C>T (p.Ala83=) rs149030303 0.00897
NM_198525.3(KIF7):c.2271C>T (p.Ala757=) rs35451920 0.00897
NM_000157.4(GBA1):c.762-18T>A rs140335079 0.00896
NM_001111125.3(IQSEC2):c.4408G>A (p.Ala1470Thr) rs191886831 0.00894
NM_001128227.3(GNE):c.-10G>A rs73449614 0.00894
NM_000709.4(BCKDHA):c.34C>A (p.Arg12=) rs34541442 0.00893
NM_018941.4(CLN8):c.685C>G (p.Pro229Ala) rs150047904 0.00893
NM_018136.5(ASPM):c.223G>A (p.Ala75Thr) rs61995747 0.00892
NM_000523.4(HOXD13):c.41C>T (p.Ala14Val) rs555136684 0.00891
NM_002693.3(POLG):c.1586-5del rs2307434 0.00891
NM_003560.4(PLA2G6):c.1027G>A (p.Ala343Thr) rs11570680 0.00890
NM_000391.4(TPP1):c.299A>G (p.Gln100Arg) rs1800746 0.00889
NM_000443.4(ABCB4):c.1584G>C (p.Glu528Asp) rs8187797 0.00888
NM_198525.3(KIF7):c.1189G>A (p.Ala397Thr) rs535621809 0.00887
NM_138694.4(PKHD1):c.3407A>G (p.Tyr1136Cys) rs41273726 0.00885
NM_004369.4(COL6A3):c.6156+4C>T rs111228504 0.00884
NM_001202.6(BMP4):c.370+28G>A rs72680532 0.00883
NM_017780.4(CHD7):c.657C>T (p.Gly219=) rs113483301 0.00881
NM_001114753.3(ENG):c.1374A>G (p.Pro458=) rs34828244 0.00879
NM_001876.4(CPT1A):c.1941C>G (p.Ala647=) rs115731492 0.00879
NM_000326.5(RLBP1):c.346+3_346+8del rs56307321 0.00878
NM_004260.4(RECQL4):c.1564C>T (p.Arg522Cys) rs35407712 0.00877
NM_020975.6(RET):c.375C>A (p.Val125=) rs1800859 0.00877
NM_001165963.4(SCN1A):c.5864T>C (p.Ile1955Thr) rs35735053 0.00876
NM_001277115.2(DNAH11):c.576A>G (p.Ile192Met) rs72655972 0.00876
NM_004260.4(RECQL4):c.275C>T (p.Ser92Phe) rs200516441 0.00876
NM_000540.3(RYR1):c.10259+7G>A rs143752962 0.00875
NM_001127671.2(LIFR):c.1937C>A (p.Thr646Asn) rs79040751 0.00875
NM_000334.4(SCN4A):c.2341G>A (p.Val781Ile) rs62070884 0.00873
NM_001384140.1(PCDH15):c.1360G>A (p.Val454Ile) rs61735473 0.00870
NM_000179.3(MSH6):c.3306T>A (p.Thr1102=) rs2020910 0.00869
NM_000059.4(BRCA2):c.7469T>C (p.Ile2490Thr) rs11571707 0.00868
NM_022437.3(ABCG8):c.51C>A (p.Pro17=) rs72647316 0.00868
NM_000142.5(FGFR3):c.1345C>T (p.Pro449Ser) rs61735104 0.00867
NM_002834.5(PTPN11):c.854-32A>C rs187389813 0.00867
NM_004183.4(BEST1):c.1474G>A (p.Val492Ile) rs111326315 0.00867
NM_004977.3(KCNC3):c.1641G>A (p.Ser547=) rs2301357 0.00867
NM_006949.4(STXBP2):c.1298C>T (p.Ala433Val) rs141309384 0.00866
NM_019066.5(MAGEL2):c.1446T>C (p.Ala482=) rs2233065 0.00866
NM_032575.3(GLIS2):c.70C>A (p.Arg24=) rs34543395 0.00866
NM_000426.4(LAMA2):c.8548-10T>C rs113644365 0.00865
NM_001371623.1(TCOF1):c.4007A>G (p.Lys1336Arg) rs55980697 0.00865
NM_018136.5(ASPM):c.8820+7C>G rs115045814 0.00865
NM_001918.5(DBT):c.724T>C (p.Ser242Pro) rs146249007 0.00864
NM_012418.4(FSCN2):c.732G>A (p.Thr244=) rs34797307 0.00864
NM_001015880.2(PAPSS2):c.886G>A (p.Val296Met) rs45467596 0.00863
NM_004646.4(NPHS1):c.881C>T (p.Thr294Ile) rs113825926 0.00863
NM_000051.4(ATM):c.2572T>C (p.Phe858Leu) rs1800056 0.00861
NM_000257.4(MYH7):c.4472C>G (p.Ser1491Cys) rs3729823 0.00861
NM_024757.5(EHMT1):c.526C>T (p.Pro176Ser) rs34704821 0.00856
NM_000512.5(GALNS):c.723C>T (p.Ala241=) rs117053987 0.00855
NM_001165963.4(SCN1A):c.5418G>A (p.Glu1806=) rs140237315 0.00855
NM_002435.3(MPI):c.762C>T (p.Ile254=) rs12440159 0.00855
NM_001164688.2(RD3):c.139C>T (p.Arg47Cys) rs34049451 0.00854
NM_001278116.2(L1CAM):c.1977T>C (p.Pro659=) rs143382184 0.00854
NM_015272.5(RPGRIP1L):c.3548C>G (p.Ala1183Gly) rs139974543 0.00854
NM_006009.4(TUBA1A):c.1008G>A (p.Lys336=) rs11829764 0.00853
NM_006306.4(SMC1A):c.2197-5T>C rs2297104 0.00852
NM_201384.3(PLEC):c.1752C>T (p.Pro584=) rs185978075 0.00852
NM_003850.3(SUCLA2):c.1099G>A (p.Asp367Asn) rs117412559 0.00851
NM_000404.4(GLB1):c.552+21G>A rs76275661 0.00847
NM_001853.4(COL9A3):c.308G>A (p.Arg103Gln) rs142639450 0.00847
NM_003482.4(KMT2D):c.10192A>G (p.Met3398Val) rs75937132 0.00847
NM_000088.4(COL1A1):c.1615-4C>A rs41316657 0.00846
NM_017433.5(MYO3A):c.3094G>A (p.Ala1032Thr) rs34918608 0.00845
NM_181426.2(CCDC39):c.2660dup (p.Ser888fs) rs200353947 0.00844
NM_006393.3(NEBL):c.2182A>G (p.Thr728Ala) rs71535732 0.00843
NM_000219.6(KCNE1):c.253G>A (p.Asp85Asn) rs1805128 0.00841
NM_015338.6(ASXL1):c.3692C>T (p.Ser1231Phe) rs74638057 0.00841
NM_019066.5(MAGEL2):c.383T>C (p.Leu128Pro) rs191559595 0.00841
NM_139343.3(BIN1):c.1625A>G (p.Lys542Arg) rs138047593 0.00841
NM_000033.4(ABCD1):c.901-16C>T rs41302176 0.00840
NM_000255.4(MMUT):c.1992G>A (p.Ala664=) rs144146728 0.00839
NM_015338.6(ASXL1):c.3519G>A (p.Leu1173=) rs117901891 0.00839
NM_001195553.2(DCX):c.705+48A>G rs201805884 0.00836
NM_001298.3(CNGA3):c.458C>T (p.Thr153Met) rs34314205 0.00836
NM_017950.4(CCDC40):c.3340G>A (p.Val1114Met) rs61740509 0.00831
NM_002024.6(FMR1):c.18G>T (p.Val6=) rs111485627 0.00830
NM_000186.4(CFH):c.2634C>T (p.His878=) rs35292876 0.00829
NM_001267550.2(TTN):c.79318C>T (p.Arg26440Cys) rs55861600 0.00828
NM_001267550.2(TTN):c.71940G>A (p.Leu23980=) rs72646893 0.00826
NM_002335.4(LRP5):c.266A>G (p.Gln89Arg) rs41494349 0.00826
NM_005220.3(DLX3):c.582G>A (p.Pro194=) rs11868203 0.00824
NM_004006.3(DMD):c.-419A>G rs150939177 0.00821
NM_004715.5(CTDP1):c.213G>C (p.Gly71=) rs201234471 0.00821
NM_002755.4(MAP2K1):c.-2A>G rs77796976 0.00820
NM_152564.5(VPS13B):c.2485G>A (p.Ala829Thr) rs61753721 0.00820
NM_000249.4(MLH1):c.637G>A (p.Val213Met) rs2308317 0.00818
NM_001845.6(COL4A1):c.3996C>T (p.Gly1332=) rs150857429 0.00816
NM_000478.6(ALPL):c.455G>A (p.Arg152His) rs149344982 0.00814
NM_001371623.1(TCOF1):c.1783G>A (p.Val595Ile) rs75583421 0.00814
NM_003482.4(KMT2D):c.5016T>C (p.Pro1672=) rs114731584 0.00814
NM_003673.4(TCAP):c.316C>T (p.Arg106Cys) rs45578741 0.00813
NM_003332.4(TYROBP):c.163G>T (p.Val55Leu) rs77782321 0.00810
NM_006005.3(WFS1):c.1495C>T (p.Leu499Phe) rs114152068 0.00810
NM_000059.4(BRCA2):c.8851G>A (p.Ala2951Thr) rs11571769 0.00809
NM_001079802.2(FKTN):c.1336A>G (p.Asn446Asp) rs41313301 0.00809
NM_001079802.2(FKTN):c.166-6A>G rs41277795 0.00808
NM_004369.4(COL6A3):c.5261A>G (p.Lys1754Arg) rs77632596 0.00808
NM_018136.5(ASPM):c.5185C>T (p.Arg1729Trp) rs41299623 0.00808
NM_020451.3(SELENON):c.747+39C>T rs114458946 0.00808
NM_000327.4(ROM1):c.868del (p.Gln290fs) rs548233813 0.00807
NM_001034853.2(RPGR):c.1367A>G (p.Gln456Arg) rs144635565 0.00806
NM_001079802.2(FKTN):c.910+14G>A rs76180538 0.00806
NM_001123385.2(BCOR):c.1650C>T (p.Thr550=) rs17145653 0.00806
NM_004006.3(DMD):c.1332-18C>T rs193153078 0.00806
NM_006019.4(TCIRG1):c.1672G>C (p.Val558Leu) rs35089741 0.00806
NM_001083961.2(WDR62):c.2991C>T (p.Ala997=) rs77898819 0.00804
NM_213599.3(ANO5):c.2387C>T (p.Ser796Leu) rs61910685 0.00804
NM_000275.3(OCA2):c.1752C>T (p.His584=) rs151225947 0.00803
NM_005249.5(FOXG1):c.1233G>A (p.Ala411=) rs34654108 0.00801
NM_133497.4(KCNV2):c.849G>A (p.Glu283=) rs17656693 0.00801
NM_152564.5(VPS13B):c.11181A>G (p.Arg3727=) rs138667007 0.00801
NM_000540.3(RYR1):c.13464G>A (p.Pro4488=) rs10405232 0.00800
NM_001184880.2(PCDH19):c.2469G>A (p.Leu823=) rs61744561 0.00798
NM_170707.4(LMNA):c.51C>T (p.Ser17=) rs11549668 0.00797
NM_005477.3(HCN4):c.2979G>A (p.Thr993=) rs75307879 0.00796
NM_001083961.2(WDR62):c.142C>T (p.Leu48Phe) rs62109744 0.00795
NM_024757.5(EHMT1):c.1369+9C>T rs146125583 0.00794
NM_000059.4(BRCA2):c.3264T>C (p.Pro1088=) rs36060526 0.00793
NM_000540.3(RYR1):c.12741C>T (p.Ala4247=) rs80039127 0.00793
NM_000059.4(BRCA2):c.7017G>C (p.Lys2339Asn) rs45574331 0.00792
NM_000059.4(BRCA2):c.9730G>A (p.Val3244Ile) rs11571831 0.00792
NM_000466.3(PEX1):c.2901G>A (p.Gln967=) rs111704518 0.00792
NM_001130987.2(DYSF):c.4621C>T (p.Leu1541=) rs7573406 0.00792
NM_000059.4(BRCA2):c.5418A>G (p.Glu1806=) rs34351119 0.00791
NM_013339.4(ALG6):c.1323T>C (p.Tyr441=) rs116660078 0.00791
NM_016239.4(MYO15A):c.6796G>A (p.Val2266Met) rs114274755 0.00791
NM_032575.3(GLIS2):c.894C>T (p.Pro298=) rs112926217 0.00791
NM_000709.4(BCKDHA):c.452C>T (p.Thr151Met) rs34442879 0.00790
NM_000320.3(QDPR):c.96C>T (p.Ala32=) rs2518608 0.00789
NM_018100.4(EFHC1):c.229C>A (p.Pro77Thr) rs149055334 0.00789
NM_000088.4(COL1A1):c.1803C>T (p.Pro601=) rs148275339 0.00788
NM_005633.4(SOS1):c.1964C>T (p.Pro655Leu) rs56219475 0.00787
NM_201384.3(PLEC):c.11720C>T (p.Thr3907Met) rs78461695 0.00787
NM_004380.3(CREBBP):c.5454G>A (p.Val1818=) rs61754523 0.00785
NM_001277313.2(FMN1):c.2044-1818A>G rs74655292 0.00784
NM_000051.4(ATM):c.2119T>C (p.Ser707Pro) rs4986761 0.00782
NM_170707.4(LMNA):c.438C>T (p.Ala146=) rs80356805 0.00782
NM_022489.4(INF2):c.1281_1286del (p.Pro428_Leu429del) rs751555478 0.00781
NM_000277.3(PAH):c.1242C>T (p.Tyr414=) rs1801152 0.00779
NM_001145809.2(MYH14):c.3663C>T (p.Asn1221=) rs78573213 0.00779
NM_003119.4(SPG7):c.120G>A (p.Gly40=) rs187330648 0.00779
NM_022489.4(INF2):c.1547C>T (p.Pro516Leu) rs111589086 0.00779
NM_018100.4(EFHC1):c.662G>A (p.Arg221His) rs79761183 0.00778
NM_006158.5(NEFL):c.1407G>A (p.Glu469=) rs543609297 0.00777
NM_000141.5(FGFR2):c.294G>A (p.Thr98=) rs1047101 0.00776
NM_001009944.3(PKD1):c.1710C>T (p.His570=) rs367983387 0.00775
NM_001848.3(COL6A1):c.1316G>A (p.Arg439Gln) rs35059000 0.00775
NM_001267550.2(TTN):c.101766G>C (p.Gln33922His) rs55886356 0.00774
NM_138694.4(PKHD1):c.7921A>G (p.Thr2641Ala) rs7766366 0.00773
NM_203288.2(RP9):c.664del (p.Ter222AspextTer?) rs553265417 0.00773
NM_000875.5(IGF1R):c.1914C>T (p.Asn638=) rs45506098 0.00771
NM_138694.4(PKHD1):c.7110-7T>A rs113034899 0.00770
NM_206933.4(USH2A):c.6240G>T (p.Lys2080Asn) rs114402911 0.00770
NM_000532.5(PCCB):c.967-42G>C rs77495412 0.00769
NM_138694.4(PKHD1):c.4035C>A (p.Gly1345=) rs140791735 0.00769
NM_000059.4(BRCA2):c.1788T>C (p.Asp596=) rs11571642 0.00768
NM_002485.5(NBN):c.37+5G>A rs116735828 0.00767
NM_000843.4(GRM6):c.1307C>T (p.Thr436Ile) rs5019554 0.00766
NM_000458.4(HNF1B):c.345-19C>T rs59527848 0.00765
NM_016239.4(MYO15A):c.2680C>T (p.Pro894Ser) rs76707172 0.00765
NM_001044385.3(TMEM237):c.75-13T>C rs116829037 0.00764
NM_004273.5(CHST3):c.1173C>A (p.Ile391=) rs115579748 0.00763
NM_006005.3(WFS1):c.2611G>A (p.Val871Met) rs71532874 0.00761
NM_000218.3(KCNQ1):c.1927G>A (p.Gly643Ser) rs1800172 0.00760
NM_001080.3(ALDH5A1):c.10T>G (p.Cys4Gly) rs200793796 0.00760
NM_020800.3(IFT80):c.1076C>T (p.Ser359Phe) rs144099135 0.00760
NM_021625.5(TRPV4):c.1684G>A (p.Val562Ile) rs56177950 0.00760
NM_006912.6(RIT1):c.375C>T (p.Asp125=) rs34831194 0.00759
NM_130837.3(OPA1):c.2961C>T (p.Arg987=) rs35540805 0.00758
NM_000051.4(ATM):c.544G>C (p.Val182Leu) rs3218707 0.00757
NM_015311.3(OBSL1):c.5202C>A (p.Asp1734Glu) rs181520135 0.00757
NM_000256.3(MYBPC3):c.2498C>T (p.Ala833Val) rs3729952 0.00756
NM_181332.3(NLGN4X):c.1777C>T (p.Leu593Phe) rs3747333 0.00756
NM_005138.3(SCO2):c.763C>A (p.Arg255=) rs112793292 0.00755
NM_000282.4(PCCA):c.2119-43T>C rs150390822 0.00754
NM_001195263.2(PDZD7):c.2144C>T (p.Pro715Leu) rs143414291 0.00754
NM_004447.6(EPS8):c.2283T>G (p.Asp761Glu) rs7137185 0.00754
NM_130837.3(OPA1):c.2049A>G (p.Val683=) rs73069703 0.00753
NM_001384474.1(LOXHD1):c.4526G>A (p.Gly1509Glu) rs187587197 0.00751
NM_000088.4(COL1A1):c.1821C>T (p.Val607=) rs41316667 0.00750
NM_000709.4(BCKDHA):c.995+9C>T rs13343330 0.00750
NM_001039141.3(TRIOBP):c.4178C>T (p.Pro1393Leu) rs28450766 0.00750
NM_000875.5(IGF1R):c.2700C>T (p.Asn900=) rs56400113 0.00749
NM_198999.3(SLC26A5):c.-53-2A>G rs116900495 0.00748
NM_015338.6(ASXL1):c.1954G>A (p.Gly652Ser) rs3746609 0.00747
NM_053025.4(MYLK):c.383C>T (p.Ala128Val) rs143896146 0.00747
NM_000443.4(ABCB4):c.81-16A>G rs45552835 0.00746
NM_001384140.1(PCDH15):c.4672-1637G>A rs139441645 0.00746
NM_001083961.2(WDR62):c.*5G>A rs61740165 0.00745
NM_001166114.2(PNPLA6):c.2133G>A (p.Leu711=) rs113335442 0.00745
NM_153240.5(NPHP3):c.3550G>A (p.Ala1184Thr) rs34391943 0.00744
NM_000642.3(AGL):c.1481G>A (p.Arg494His) rs141043166 0.00743
NM_001393500.2(TOMT):c.524G>A (p.Arg175Gln) rs61741195 0.00743
NM_001458.5(FLNC):c.4289-4A>C rs140031589 0.00743
NM_001876.4(CPT1A):c.1908G>A (p.Ala636=) rs111407620 0.00743
NM_004006.3(DMD):c.3603+8A>G rs193249735 0.00743
NM_000245.4(MET):c.1085T>C (p.Met362Thr) rs77523018 0.00742
NM_006432.5(NPC2):c.442-4A>C rs114950106 0.00742
NM_015311.3(OBSL1):c.3649G>A (p.Glu1217Lys) rs72957510 0.00742
NM_000245.4(MET):c.390C>T (p.Leu130=) rs150588908 0.00740
NM_000260.4(MYO7A):c.5215C>A (p.Arg1739=) rs111033477 0.00740
NM_022124.6(CDH23):c.8907C>T (p.Arg2969=) rs11000010 0.00740
NM_001457.4(FLNB):c.6956T>C (p.Ile2319Thr) rs116826041 0.00739
NM_020297.4(ABCC9):c.3409G>A (p.Val1137Ile) rs147895473 0.00739
NM_001286074.1(TAF1):c.32C>T (p.Thr11Ile) rs139510844 0.00738
NM_004999.4(MYO6):c.1120T>C (p.Tyr374His) rs61732664 0.00738
NM_024685.4(BBS10):c.424G>A (p.Asp142Asn) rs142863601 0.00738
NM_000138.5(FBN1):c.986T>C (p.Ile329Thr) rs12324002 0.00737
NM_001035.3(RYR2):c.3407C>T (p.Ala1136Val) rs72549415 0.00737
NM_001114748.2(TMEM240):c.453C>T (p.Ala151=) rs199556012 0.00737
NM_005477.3(HCN4):c.2648C>G (p.Pro883Arg) rs148398509 0.00737
NM_012186.3(FOXE3):c.618C>G (p.Ala206=) rs189628587 0.00737
NM_015311.3(OBSL1):c.4361G>A (p.Arg1454Gln) rs183329050 0.00737
NM_000218.3(KCNQ1):c.1942G>A (p.Val648Ile) rs34150427 0.00734
NM_001164508.2(NEB):c.20078C>T (p.Thr6693Ile) rs35707762 0.00734
NM_006031.6(PCNT):c.8671G>A (p.Ala2891Thr) rs33956783 0.00733
NM_024408.4(NOTCH2):c.4311C>T (p.Gly1437=) rs34561092 0.00733
NM_052845.3(MMAB):c.-180C>T rs66486014 0.00733
NM_153717.3(EVC):c.1320T>A (p.Phe440Leu) rs60582583 0.00733
NM_000053.4(ATP7B):c.4311G>A (p.Lys1437=) rs73202048 0.00732
NM_003640.5(ELP1):c.1230G>A (p.Pro410=) rs41278359 0.00732
NM_001844.5(COL2A1):c.213C>T (p.Asp71=) rs112469769 0.00730
NM_004715.5(CTDP1):c.150C>G (p.Ala50=) rs564311662 0.00730
NM_015192.4(PLCB1):c.2967G>A (p.Thr989=) rs45464693 0.00730
NM_000843.4(GRM6):c.1566C>T (p.Cys522=) rs62638209 0.00729
NM_001008212.2(OPTN):c.123G>A (p.Leu41=) rs11591687 0.00729
NM_001267550.2(TTN):c.14984C>G (p.Pro4995Arg) rs72648927 0.00729
NM_001458.5(FLNC):c.3721C>T (p.Arg1241Cys) rs146953558 0.00728
NM_014780.5(CUL7):c.4762C>A (p.Leu1588Ile) rs147493246 0.00727
NM_213599.3(ANO5):c.800C>G (p.Thr267Ser) rs138144479 0.00727
NM_000152.5(GAA):c.2400C>T (p.Ser800=) rs115705591 0.00724
NM_001082538.3(TCTN1):c.1234A>G (p.Ile412Val) rs75714509 0.00723
NM_001042545.2(LTBP4):c.4298A>T (p.Tyr1433Phe) rs35809725 0.00722
NM_138694.4(PKHD1):c.10515C>A (p.Ser3505Arg) rs139014478 0.00721
NM_144997.7(FLCN):c.1538+14T>G rs112111994 0.00721
NM_001844.5(COL2A1):c.708+8C>T rs41317893 0.00720
NM_000030.3(AGXT):c.26C>A (p.Thr9Asn) rs115014558 0.00719
NM_000070.3(CAPN3):c.319G>A (p.Glu107Lys) rs1801505 0.00719
NM_000271.5(NPC1):c.3246-46C>T rs117851153 0.00718
NM_002335.4(LRP5):c.687-8G>A rs190810239 0.00718
NM_021625.5(TRPV4):c.2518G>A (p.Glu840Lys) rs55728855 0.00718
NM_000048.4(ASL):c.576G>A (p.Lys192=) rs115468878 0.00717
NM_001849.4(COL6A2):c.316G>A (p.Glu106Lys) rs141703710 0.00717
NM_000284.4(PDHA1):c.844A>C (p.Met282Leu) rs2229137 0.00715
NM_004380.3(CREBBP):c.1651C>A (p.Leu551Ile) rs61753381 0.00715
NM_001164508.2(NEB):c.2832C>T (p.Ser944=) rs114076205 0.00714
NM_001848.3(COL6A1):c.1612-10G>A rs141892165 0.00714
NM_004006.3(DMD):c.2391T>G (p.Asn797Lys) rs72468681 0.00714
NM_018965.4(TREM2):c.185G>A (p.Arg62His) rs143332484 0.00714
NM_201384.3(PLEC):c.4635G>A (p.Ala1545=) rs76426116 0.00714
NM_000051.4(ATM):c.146C>G (p.Ser49Cys) rs1800054 0.00712
NM_001848.3(COL6A1):c.1823-8G>A rs184666690 0.00711
NM_006662.3(SRCAP):c.7571C>G (p.Ser2524Cys) rs75125670 0.00711
NM_000719.7(CACNA1C):c.5097C>T (p.Ala1699=) rs113595214 0.00709
NM_133497.4(KCNV2):c.1083A>G (p.Gln361=) rs142744007 0.00709
NM_201384.3(PLEC):c.9435C>T (p.Asp3145=) rs60091617 0.00708
NM_000512.5(GALNS):c.775C>A (p.Arg259=) rs61742258 0.00707
NM_007294.4(BRCA1):c.1971A>G (p.Gln657=) rs28897679 0.00707
NM_014244.5(ADAMTS2):c.68T>C (p.Leu23Pro) rs565885690 0.00707
NM_000360.4(TH):c.684G>A (p.Glu228=) rs11564716 0.00706
NM_001378477.3(NYX):c.1202C>G (p.Ala401Gly) rs34169326 0.00706
NM_003002.4(SDHD):c.34G>A (p.Gly12Ser) rs34677591 0.00706
NM_001080.3(ALDH5A1):c.1389T>C (p.Asp463=) rs58747567 0.00705
NM_014043.4(CHMP2B):c.560G>A (p.Ser187Asn) rs78268395 0.00705
NM_014363.6(SACS):c.4118C>T (p.Ala1373Val) rs61548169 0.00705
NM_000368.5(TSC1):c.3324C>T (p.Gly1108=) rs35593170 0.00704
NM_001101426.4(CRPPA):c.947C>A (p.Thr316Lys) rs114363936 0.00703
NM_001379110.1(SLC9A6):c.1662-4G>A rs188072063 0.00703
NM_004369.4(COL6A3):c.5059C>T (p.Pro1687Ser) rs35273032 0.00703
NM_001127671.2(LIFR):c.1899A>G (p.Ile633Met) rs2303743 0.00702
NM_004316.4(ASCL1):c.123A>G (p.Ala41=) rs558732328 0.00702
NM_015272.5(RPGRIP1L):c.3372C>T (p.Ser1124=) rs146902870 0.00702
NM_138694.4(PKHD1):c.8521A>G (p.Met2841Val) rs113562492 0.00702
NM_001267550.2(TTN):c.23177C>T (p.Ser7726Leu) rs17452588 0.00701
NM_001292063.2(OTOG):c.5235C>A (p.Leu1745=) rs193083374 0.00701
NM_153026.3(PRICKLE1):c.2236C>T (p.Pro746Ser) rs3827522 0.00701
NM_001025389.2(AMPD3):c.931G>T (p.Val311Leu) rs117706710 0.00700
NM_000363.5(TNNI3):c.244C>T (p.Pro82Ser) rs77615401 0.00699
NM_001384140.1(PCDH15):c.4024C>A (p.Gln1342Lys) rs61731387 0.00699
NM_006363.6(SEC23B):c.1503C>T (p.Ile501=) rs147036760 0.00699
NM_033109.5(PNPT1):c.2070-5T>C rs145739483 0.00699
NM_213599.3(ANO5):c.1545A>G (p.Ser515=) rs35843353 0.00699
NM_001110556.2(FLNA):c.6742C>T (p.Leu2248=) rs113510895 0.00698
NM_001267550.2(TTN):c.45328G>A (p.Asp15110Asn) rs17354992 0.00698
NM_001267550.2(TTN):c.39183T>A (p.Pro13061=) rs12474306 0.00697
NM_001853.4(COL9A3):c.901-9T>C rs74506912 0.00695
NM_014714.4(IFT140):c.322G>A (p.Val108Met) rs146128830 0.00695
NM_000540.3(RYR1):c.7281C>T (p.Ala2427=) rs77310009 0.00694
NM_004541.4(NDUFA1):c.94G>C (p.Gly32Arg) rs1801316 0.00694
NM_022455.5(NSD1):c.1515T>C (p.Asn505=) rs114747882 0.00694
NM_133642.5(LARGE1):c.-31G>A rs117199378 0.00694
NM_000059.4(BRCA2):c.517-19C>T rs11571623 0.00693
NM_001277313.2(FMN1):c.2752A>G (p.Ser918Gly) rs57378148 0.00693
NM_000540.3(RYR1):c.6498C>T (p.Leu2166=) rs151313865 0.00691
NM_001267550.2(TTN):c.43596T>C (p.Asn14532=) rs16866423 0.00691
NM_004727.3(SLC24A1):c.2594A>G (p.Glu865Gly) rs142249570 0.00691
NM_005148.4(UNC119):c.65G>T (p.Gly22Val) rs199714731 0.00691
NM_006214.4(PHYH):c.734G>A (p.Arg245Gln) rs62619919 0.00690
NM_152564.5(VPS13B):c.3203C>T (p.Thr1068Ile) rs61753722 0.00690
NM_001004334.4(GPR179):c.3454T>C (p.Ser1152Pro) rs149252987 0.00689
NM_004006.2(DMD):c.-128771C>T rs190028670 0.00689
NM_001378454.1(ALMS1):c.10628C>G (p.Thr3543Ser) rs45501594 0.00688
NM_014363.6(SACS):c.4188C>T (p.His1396=) rs61754477 0.00688
NM_014363.6(SACS):c.6267G>A (p.Ser2089=) rs9550956 0.00688
NM_000252.3(MTM1):c.1260+17A>G rs185258809 0.00687
NM_000287.4(PEX6):c.1646C>T (p.Ala549Val) rs115960224 0.00687
NM_033028.5(BBS4):c.137A>G (p.Lys46Arg) rs75295839 0.00687
NM_018668.5(VPS33B):c.1671A>G (p.Glu557=) rs148071246 0.00686
NM_080680.3(COL11A2):c.1782C>T (p.Asp594=) rs41266697 0.00686
NM_000460.4(THPO):c.1030A>G (p.Thr344Ala) rs35794435 0.00685
NM_005708.5(GPC6):c.256C>T (p.Leu86Phe) rs143872144 0.00684
NM_001127649.3(PEX26):c.130C>T (p.Leu44Phe) rs150895887 0.00683
NM_000036.3(AMPD1):c.1464G>A (p.Glu488=) rs80266556 0.00682
NM_033100.4(CDHR1):c.-1C>T rs114273269 0.00682
NM_001164508.2(NEB):c.3191A>G (p.Tyr1064Cys) rs187343008 0.00681
NM_004387.4(NKX2-5):c.861C>T (p.Ala287=) rs77612903 0.00681
NM_138694.4(PKHD1):c.2027C>G (p.Pro676Arg) rs115045643 0.00681
NM_000088.4(COL1A1):c.904-9G>T rs141726413 0.00680
NM_001848.3(COL6A1):c.3054C>T (p.His1018=) rs141237809 0.00680
NM_002024.6(FMR1):c.104+42A>G rs141796490 0.00680
NM_022124.6(CDH23):c.1096G>A (p.Ala366Thr) rs143282422 0.00680
NM_001010892.3(RSPH4A):c.1731A>G (p.Lys577=) rs73765819 0.00679
NM_003002.4(SDHD):c.149A>G (p.His50Arg) rs11214077 0.00679
NM_000264.5(PTCH1):c.2183C>T (p.Thr728Met) rs115556836 0.00678
NM_000287.4(PEX6):c.210G>A (p.Gly70=) rs398123304 0.00678
NM_001005242.3(PKP2):c.174G>T (p.Glu58Asp) rs146708884 0.00677
NM_002334.4(LRP4):c.997G>A (p.Gly333Arg) rs61744209 0.00677
NM_000219.6(KCNE1):c.84G>A (p.Ser28=) rs17173510 0.00676
NM_153717.3(EVC):c.780G>A (p.Lys260=) rs41269555 0.00676
NM_182961.4(SYNE1):c.8164G>A (p.Val2722Ile) rs151091241 0.00676
NM_000038.6(APC):c.5265G>A (p.Ala1755=) rs34506289 0.00675
NM_000098.3(CPT2):c.302C>T (p.Ala101Val) rs75939866 0.00675
NM_001267550.2(TTN):c.16303G>A (p.Val5435Met) rs72648937 0.00675
NM_000306.4(POU1F1):c.666-5G>A rs76296626 0.00674
NM_001999.4(FBN2):c.728T>C (p.Ile243Thr) rs117524265 0.00674
NM_201384.3(PLEC):c.11940C>T (p.Ile3980=) rs148865812 0.00674
NM_000784.4(CYP27A1):c.-6C>T rs199891090 0.00673
NM_001164508.2(NEB):c.6069G>A (p.Met2023Ile) rs184262608 0.00672
NM_001848.3(COL6A1):c.588+37A>G rs117470181 0.00672
NM_005422.4(TECTA):c.5012C>T (p.Ser1671Leu) rs142948530 0.00672
NM_006005.3(WFS1):c.2335G>A (p.Val779Met) rs141328044 0.00672
NM_020822.3(KCNT1):c.3312G>A (p.Leu1104=) rs149416418 0.00671
NM_000441.2(SLC26A4):c.15C>A (p.Gly5=) rs7811324 0.00669
NM_001370658.1(BTD):c.585C>T (p.Leu195=) rs145388314 0.00669
NM_133497.4(KCNV2):c.676G>A (p.Val226Ile) rs74587818 0.00669
NM_000543.5(SMPD1):c.719G>A (p.Arg240Gln) rs2634197 0.00668
NM_032119.4(ADGRV1):c.746G>A (p.Arg249Lys) rs41303344 0.00668
NM_001267550.2(TTN):c.21044C>T (p.Ala7015Val) rs72648960 0.00666
NM_005477.3(HCN4):c.2673G>A (p.Ser891=) rs191092709 0.00666
NM_000440.3(PDE6A):c.1476A>C (p.Gln492His) rs17711594 0.00665
NM_016239.4(MYO15A):c.10182G>A (p.Ala3394=) rs79230542 0.00665
NM_018136.5(ASPM):c.3742-10T>G rs41299587 0.00665
NM_000489.6(ATRX):c.5579A>G (p.Asn1860Ser) rs45439799 0.00663
NM_001985.3(ETFB):c.438+20C>T rs114985874 0.00662
NM_000051.4(ATM):c.6995T>C (p.Leu2332Pro) rs4988111 0.00660
NM_000492.4(CFTR):c.4272C>T (p.Tyr1424=) rs1800135 0.00660
NM_001035.3(RYR2):c.8448C>T (p.Asp2816=) rs144876996 0.00659
NM_030957.4(ADAMTS10):c.3193G>A (p.Gly1065Ser) rs80046653 0.00659
NM_014000.3(VCL):c.2801C>T (p.Ala934Val) rs16931179 0.00658
NM_016239.4(MYO15A):c.9478C>T (p.Leu3160Phe) rs140029076 0.00658
NM_153240.5(NPHP3):c.3941G>C (p.Ser1314Thr) rs75316802 0.00658
NM_005529.7(HSPG2):c.5755C>T (p.Arg1919Cys) rs2229474 0.00657
NM_014140.4(SMARCAL1):c.341G>A (p.Arg114His) rs11555797 0.00657
NM_001384474.1(LOXHD1):c.4714C>A (p.Arg1572=) rs75949023 0.00656
NM_018136.5(ASPM):c.3741+3A>G rs138558822 0.00656
NM_000059.3(BRCA2):c.5704G>A (p.Asp1902Asn) rs4987048 0.00655
NM_005633.4(SOS1):c.1074+5G>C rs145155424 0.00655
NM_001267550.2(TTN):c.22074A>G (p.Lys7358=) rs34562585 0.00654
NM_001999.4(FBN2):c.976C>T (p.Pro326Ser) rs28763954 0.00654
NM_000152.5(GAA):c.1726G>A (p.Gly576Ser) rs1800307 0.00653
NM_058216.3(RAD51C):c.859A>G (p.Thr287Ala) rs28363317 0.00653
NM_198506.5(LRIT3):c.1509G>A (p.Thr503=) rs76587489 0.00652
NM_001039141.3(TRIOBP):c.1158C>T (p.Asp386=) rs116964444 0.00651
NM_001195263.2(PDZD7):c.1008C>T (p.Pro336=) rs144469613 0.00650
NM_001909.5(CTSD):c.844G>A (p.Gly282Arg) rs147278302 0.00650
NM_018714.3(COG1):c.1049C>T (p.Thr350Met) rs117344829 0.00650
NM_003482.4(KMT2D):c.7144C>T (p.Pro2382Ser) rs3741626 0.00649
NM_005677.4(COLQ):c.1108G>A (p.Asp370Asn) rs116373583 0.00649
NM_201384.3(PLEC):c.4223C>T (p.Ala1408Val) rs111851716 0.00648
NM_000260.4(MYO7A):c.2236G>A (p.Asp746Asn) rs36090425 0.00646
NM_001164508.2(NEB):c.8189A>G (p.Asp2730Gly) rs76767949 0.00646
NM_001429.4(EP300):c.631G>A (p.Gly211Ser) rs142030651 0.00646
NM_001605.3(AARS1):c.1404C>T (p.Tyr468=) rs117598688 0.00646
NM_022089.4(ATP13A2):c.3430G>A (p.Ala1144Thr) rs151181674 0.00646
NM_032601.4(MCEE):c.102C>G (p.Pro34=) rs146573280 0.00646
NM_138694.4(PKHD1):c.6245C>T (p.Thr2082Ile) rs147487242 0.00646
NM_001384732.1(CPLANE1):c.6957A>G (p.Gln2319=) rs143147192 0.00645
NM_017617.5(NOTCH1):c.5168-10G>A rs199903655 0.00645
NM_000550.3(TYRP1):c.1500G>A (p.Leu500=) rs34060600 0.00644
NM_001029896.2(WDR45):c.838G>A (p.Val280Met) rs149509552 0.00644
NM_001378615.1(CC2D2A):c.1519A>G (p.Lys507Glu) rs144439937 0.00644
NM_004082.5(DCTN1):c.3529+5G>A rs72466494 0.00644
NM_006031.6(PCNT):c.7656C>T (p.Arg2552=) rs61735819 0.00644
NM_031935.3(HMCN1):c.8815G>A (p.Gly2939Ser) rs74967568 0.00644
NM_006302.3(MOGS):c.1838G>A (p.Arg613Gln) rs142032474 0.00643
NM_000245.4(MET):c.948A>G (p.Ile316Met) rs35225896 0.00641
NM_000426.4(LAMA2):c.1701C>T (p.Ile567=) rs111381107 0.00641
NM_001267550.2(TTN):c.48727C>T (p.Pro16243Ser) rs72677242 0.00641
NM_000337.6(SGCD):c.294+8T>C rs11748588 0.00640
NM_001267550.2(TTN):c.33063A>G (p.Glu11021=) rs115744476 0.00640
NM_003482.4(KMT2D):c.8046+11A>G rs145186737 0.00640
NM_000430.4(PAFAH1B1):c.474C>T (p.Phe158=) rs116237011 0.00638
NM_017617.5(NOTCH1):c.6777T>C (p.Gly2259=) rs61751490 0.00638
NM_032119.4(ADGRV1):c.14654A>G (p.Asn4885Ser) rs61731030 0.00638
NM_170707.4(LMNA):c.612G>A (p.Leu204=) rs12117552 0.00637
NM_000051.4(ATM):c.3383A>G (p.Gln1128Arg) rs2229020 0.00636
NM_000489.6(ATRX):c.1633C>G (p.Gln545Glu) rs35738915 0.00636
NM_022726.4(ELOVL4):c.800T>C (p.Ile267Thr) rs148594713 0.00636
NM_001165963.4(SCN1A):c.384-20G>C rs192956852 0.00635
NM_002087.3(GRN):c.-72G>T rs76783532 0.00635
NM_005477.3(HCN4):c.36C>G (p.Leu12=) rs201193660 0.00635
NM_005751.5(AKAP9):c.3827G>A (p.Arg1276Gln) rs146797353 0.00635
NM_172107.4(KCNQ2):c.2106G>A (p.Ser702=) rs187252584 0.00635
NM_004447.6(EPS8):c.2113G>A (p.Ala705Thr) rs78763451 0.00634
NM_015311.3(OBSL1):c.3003C>T (p.Ala1001=) rs150691758 0.00634
NM_030665.4(RAI1):c.1044C>T (p.Arg348=) rs142316059 0.00634
NM_002764.4(PRPS1):c.456A>G (p.Leu152=) rs61735617 0.00632
NM_020717.5(SHROOM4):c.4101G>T (p.Leu1367Phe) rs28362302 0.00632
NM_138694.4(PKHD1):c.4343A>G (p.Glu1448Gly) rs116809571 0.00632
NM_004447.6(EPS8):c.104A>G (p.His35Arg) rs71532816 0.00631
NM_031433.4(MFRP):c.1635G>A (p.Ala545=) rs138370910 0.00631
NM_033056.4(PCDH15):c.4850A>G (p.Asn1617Ser) rs111033362 0.00631
NM_153026.3(PRICKLE1):c.374T>C (p.Val125Ala) rs34837068 0.00631
NM_020433.5(JPH2):c.661T>C (p.Phe221Leu) rs558770240 0.00630
NM_194248.3(OTOF):c.145C>T (p.Arg49Trp) rs61746568 0.00630
NM_001377.3(DYNC2H1):c.10834G>C (p.Asp3612His) rs116872934 0.00628
NM_031220.4(PITPNM3):c.541G>A (p.Val181Ile) rs61755430 0.00628
NM_000157.4(GBA1):c.1223C>T (p.Thr408Met) rs75548401 0.00627
NM_001031710.3(KLHL7):c.1440A>G (p.Lys480=) rs118185564 0.00627
NM_004006.3(DMD):c.7476T>C (p.Val2492=) rs142153424 0.00626
NM_005529.7(HSPG2):c.3056C>T (p.Pro1019Leu) rs62642528 0.00626
NM_000036.3(AMPD1):c.1975-23T>A rs148592763 0.00625
NM_001267550.2(TTN):c.91573A>G (p.Ile30525Val) rs72648244 0.00625
NM_001379286.1(ZNF423):c.3164C>T (p.Ala1055Val) rs111229124 0.00625
NM_017780.4(CHD7):c.6111C>T (p.Pro2037=) rs41312170 0.00625
NM_152384.3(BBS5):c.620G>A (p.Arg207His) rs35487251 0.00625
NM_175875.5(SIX5):c.213G>T (p.Gly71=) rs570333735 0.00625
NM_000091.5(COL4A3):c.71C>G (p.Ala24Gly) rs184704920 0.00624
NM_003850.3(SUCLA2):c.45C>T (p.Thr15=) rs35899901 0.00624
NM_003036.4(SKI):c.1974C>T (p.Arg658=) rs201895384 0.00623
NM_172364.5(CACNA2D4):c.3065C>T (p.Pro1022Leu) rs61741336 0.00623
NM_004006.3(DMD):c.3787-18T>C rs72468656 0.00621
NM_014874.4(MFN2):c.2113G>A (p.Val705Ile) rs142271930 0.00621
NM_000061.3(BTK):c.141+11C>T rs138411530 0.00620
NM_000071.3(CBS):c.1145+7C>T rs201158177 0.00620
NM_000266.4(NDP):c.*10C>G rs140653237 0.00620
NM_001379081.2(FREM1):c.4727A>T (p.Asn1576Ile) rs2101770 0.00620
NM_000260.4(MYO7A):c.4461C>T (p.Asn1487=) rs56174006 0.00618
NM_004415.4(DSP):c.1481A>T (p.Tyr494Phe) rs28763961 0.00618
NM_014846.4(WASHC5):c.3319G>A (p.Val1107Met) rs138407503 0.00618
NM_024685.4(BBS10):c.1631A>G (p.Asn544Ser) rs34737974 0.00618
NM_025243.4(SLC19A3):c.309G>A (p.Val103=) rs142837989 0.00618
NM_198129.4(LAMA3):c.9353G>A (p.Ser3118Asn) rs61749943 0.00618
NM_000726.5(CACNB4):c.1303-3T>C rs143442080 0.00617
NM_006180.6(NTRK2):c.2113C>T (p.Leu705=) rs75380746 0.00617
NM_133642.5(LARGE1):c.1994G>A (p.Arg665His) rs1046166 0.00617
NM_201384.3(PLEC):c.13110C>T (p.Ala4370=) rs187810163 0.00617
NM_001077365.2(POMT1):c.891G>A (p.Leu297=) rs76109289 0.00616
NM_001127222.2(CACNA1A):c.2737C>T (p.Pro913Ser) rs16020 0.00616
NM_001127222.2(CACNA1A):c.3237C>T (p.Ala1079=) rs16026 0.00616
NM_001999.4(FBN2):c.629-9A>G rs56025995 0.00616
NM_000071.3(CBS):c.573G>A (p.Thr191=) rs73906420 0.00615
NM_001267550.2(TTN):c.81558T>C (p.Asn27186=) rs56181243 0.00615
NM_182961.4(SYNE1):c.1964A>G (p.Gln655Arg) rs9397509 0.00615
NM_000554.6(CRX):c.365G>A (p.Gly122Asp) rs61748441 0.00614
NM_000070.3(CAPN3):c.495C>T (p.Phe165=) rs1801324 0.00613
NM_001267550.2(TTN):c.101212C>T (p.Arg33738Cys) rs56273463 0.00613
NM_001267550.2(TTN):c.12580A>T (p.Ile4194Phe) rs34618570 0.00613
NM_002863.5(PYGL):c.1093-6C>A rs147211684 0.00613
NM_004369.4(COL6A3):c.4285+9G>A rs75780727 0.00613
NM_015404.4(WHRN):c.229A>T (p.Thr77Ser) rs56204273 0.00613
NM_004380.3(CREBBP):c.5988C>T (p.Ala1996=) rs181646656 0.00612
NM_006416.5(SLC35A1):c.19A>C (p.Asn7His) rs114156788 0.00612
NM_015634.4(KIFBP):c.518T>C (p.Met173Thr) rs62625033 0.00610
NM_000059.4(BRCA2):c.4258G>T (p.Asp1420Tyr) rs28897727 0.00609
NM_001199107.2(TBC1D24):c.885C>G (p.Phe295Leu) rs72768728 0.00609
NM_012418.4(FSCN2):c.412C>T (p.His138Tyr) rs143796236 0.00609
NM_014141.6(CNTNAP2):c.3633G>A (p.Glu1211=) rs138477292 0.00609
NM_181332.3(NLGN4X):c.2271G>A (p.Pro757=) rs4999056 0.00609
NM_000051.4(ATM):c.5793T>C (p.Ala1931=) rs3092910 0.00608
NM_001267550.2(TTN):c.83063G>A (p.Arg27688His) rs185002960 0.00608
NM_001360.3(DHCR7):c.1092G>A (p.Thr364=) rs35946774 0.00608
NM_152564.5(VPS13B):c.9349A>G (p.Ser3117Gly) rs113671330 0.00608
NM_000540.3(RYR1):c.4719G>A (p.Pro1573=) rs35480887 0.00607
NM_000540.3(RYR1):c.573C>T (p.Asp191=) rs892054 0.00607
NM_001277115.2(DNAH11):c.1426-9T>C rs72655983 0.00607
NM_206933.4(USH2A):c.9262G>A (p.Glu3088Lys) rs56056328 0.00606
NM_001037.5(SCN1B):c.*76G>T rs367768639 0.00605
NM_001161352.2(KCNMA1):c.34A>G (p.Ser12Gly) rs77602559 0.00605
NM_001367624.2(ZNF469):c.4421C>T (p.Ala1474Val) rs199897247 0.00605
NM_006765.4(TUSC3):c.193A>G (p.Ile65Val) rs11545035 0.00605
NM_001378414.1(HDAC4):c.1692G>A (p.Lys564=) rs114495208 0.00604
NM_005120.3(MED12):c.2886C>T (p.Ser962=) rs34761462 0.00604
NM_006031.6(PCNT):c.5771C>T (p.Ala1924Val) rs184420466 0.00604
NM_001037.5(SCN1B):c.-9C>A rs66671189 0.00603
NM_201384.3(PLEC):c.2961C>T (p.Ser987=) rs149932255 0.00603
NM_001135022.2(ELMOD3):c.865G>A (p.Ala289Thr) rs34973107 0.00602
NM_004369.4(COL6A3):c.4156G>A (p.Glu1386Lys) rs146092501 0.00602
NM_006363.6(SEC23B):c.490G>T (p.Val164Leu) rs36023150 0.00602
NM_014008.5(CCDC22):c.1288G>A (p.Ala430Thr) rs144632022 0.00602
NM_000540.3(RYR1):c.13502C>T (p.Pro4501Leu) rs73933023 0.00601
NM_001130987.2(DYSF):c.3337C>T (p.Arg1113Cys) rs141536854 0.00601
NM_006019.4(TCIRG1):c.479G>A (p.Gly160Glu) rs186758849 0.00601
NM_000070.3(CAPN3):c.984C>T (p.Cys328=) rs28364441 0.00600
NM_002180.3(IGHMBP2):c.256+9G>A rs118015540 0.00600
NM_004260.4(RECQL4):c.2415C>T (p.Ala805=) rs34735741 0.00600
NM_000540.3(RYR1):c.6384C>T (p.Tyr2128=) rs75181912 0.00599
NM_006662.3(SRCAP):c.4603C>G (p.Pro1535Ala) rs117804715 0.00599
NM_015102.5(NPHP4):c.1442-7C>T rs146078470 0.00599
NM_016239.4(MYO15A):c.6614C>T (p.Thr2205Ile) rs121908970 0.00599
NM_130839.5(UBE3A):c.1185A>G (p.Glu395=) rs114056442 0.00599
NM_198428.3(BBS9):c.1280C>T (p.Ala427Val) rs138072724 0.00599
NM_000093.5(COL5A1):c.4135C>T (p.Pro1379Ser) rs61739195 0.00598
NM_004646.4(NPHS1):c.563A>T (p.Asn188Ile) rs145125791 0.00598
NM_153026.3(PRICKLE1):c.2304C>G (p.Ser768=) rs35854729 0.00598
NM_000059.4(BRCA2):c.9257-16T>C rs11571818 0.00597
NM_000059.4(BRCA2):c.9976A>T (p.Lys3326Ter) rs11571833 0.00597
NM_012301.4(MAGI2):c.276C>G (p.Pro92=) rs146012909 0.00597
NM_000195.5(HPS1):c.1698G>A (p.Ser566=) rs148450315 0.00596
NM_000203.5(IDUA):c.296C>T (p.Thr99Ile) rs147490060 0.00596
NM_000440.3(PDE6A):c.908C>G (p.Ser303Cys) rs61733363 0.00596
NM_000512.5(GALNS):c.1438G>T (p.Val480Phe) rs151296605 0.00596
NM_001048174.2(MUTYH):c.1347G>C (p.Thr449=) rs74318065 0.00596
NM_001077365.2(POMT1):c.1826-40G>A rs187443595 0.00596
NM_001277115.2(DNAH11):c.8266T>C (p.Cys2756Arg) rs74667361 0.00596
NM_002764.4(PRPS1):c.477C>T (p.Ile159=) rs61752962 0.00596
NM_001277115.2(DNAH11):c.640A>G (p.Ile214Val) rs117064287 0.00595
NM_004006.3(DMD):c.2143A>T (p.Thr715Ser) rs16998350 0.00594
NM_014014.5(SNRNP200):c.5933G>C (p.Gly1978Ala) rs75956769 0.00593
NM_054012.4(ASS1):c.106-10T>G rs73541957 0.00593
NM_024747.6(HPS6):c.698T>G (p.Leu233Arg) rs36078476 0.00592
NM_025074.7(FRAS1):c.9806G>A (p.Arg3269Gln) rs61729366 0.00592
NM_001367721.1(CASK):c.363T>C (p.Tyr121=) rs41431245 0.00591
NM_001849.4(COL6A2):c.2769C>T (p.His923=) rs140419176 0.00591
NM_020223.4(FAM20C):c.1228T>A (p.Ser410Thr) rs148276213 0.00591
NM_182961.4(SYNE1):c.4757C>A (p.Thr1586Lys) rs77675624 0.00591
NM_000492.4(CFTR):c.164+28A>G rs34010645 0.00589
NM_001130987.2(DYSF):c.2642A>C (p.Asp881Ala) rs35884879 0.00589
NM_001384732.1(CPLANE1):c.8286C>T (p.Asp2762=) rs114126795 0.00589
NM_130837.3(OPA1):c.679-8C>T rs114348597 0.00589
NM_000548.5(TSC2):c.3422C>T (p.Ala1141Val) rs34870424 0.00587
NM_004415.4(DSP):c.105G>A (p.Gly35=) rs77445784 0.00587
NM_001111067.4(ACVR1):c.44C>G (p.Ala15Gly) rs13406336 0.00586
NM_017780.4(CHD7):c.309G>A (p.Ser103=) rs115293759 0.00586
NM_206933.4(USH2A):c.7685T>C (p.Val2562Ala) rs56385601 0.00586
NM_000318.3(PEX2):c.748T>C (p.Trp250Arg) rs142645936 0.00585
NM_022089.4(ATP13A2):c.1195+10G>A rs55689004 0.00585
NM_001368067.1(LDB3):c.349G>A (p.Asp117Asn) rs121908338 0.00584
NM_000287.4(PEX6):c.813G>T (p.Ala271=) rs35503676 0.00583
NM_000249.4(MLH1):c.1038+51C>T rs55986674 0.00582
NM_024009.3(GJB3):c.529T>G (p.Tyr177Asp) rs80297119 0.00582
NM_001130987.2(DYSF):c.1216G>C (p.Val406Leu) rs150724610 0.00580
NM_032119.4(ADGRV1):c.2553+11T>A rs73181640 0.00580
NM_182961.4(SYNE1):c.4789-13G>A rs142900784 0.00579
NM_001161352.2(KCNMA1):c.3195C>T (p.Thr1065=) rs45527834 0.00578
NM_002256.4(KISS1):c.268C>G (p.His90Asp) rs201073751 0.00578
NM_004387.4(NKX2-5):c.543G>A (p.Gln181=) rs72554028 0.00578
NM_031471.6(FERMT3):c.130G>A (p.Gly44Arg) rs149000560 0.00578
NM_000283.4(PDE6B):c.615C>T (p.Asp205=) rs149293844 0.00577
NM_002435.3(MPI):c.982C>T (p.Arg328Trp) rs117089191 0.00577
NM_017780.4(CHD7):c.5051-4C>T rs71640288 0.00577
NM_024105.4(ALG12):c.645G>A (p.Pro215=) rs12167668 0.00577
NM_025114.4(CEP290):c.5237G>A (p.Arg1746Gln) rs61941020 0.00577
NM_025243.4(SLC19A3):c.421G>A (p.Gly141Ser) rs148144444 0.00577
NM_130837.3(OPA1):c.420G>T (p.Val140=) rs35801538 0.00577
NM_152618.3(BBS12):c.116T>C (p.Ile39Thr) rs138036823 0.00577
NM_000254.3(MTR):c.858C>T (p.Pro286=) rs146019467 0.00576
NM_015102.5(NPHP4):c.3674C>T (p.Thr1225Met) rs144624477 0.00576
NM_001134363.3(RBM20):c.1881-3C>T rs138436392 0.00575
NM_001558.4(IL10RA):c.21G>C (p.Val7=) rs4252301 0.00575
NM_022039.4(FBXW4):c.1410T>C (p.Tyr470=) rs35614606 0.00575
NM_003477.3(PDHX):c.976G>C (p.Val326Leu) rs35560997 0.00574
NM_000492.4(CFTR):c.3705T>G (p.Ser1235Arg) rs34911792 0.00573
NM_006031.6(PCNT):c.8752-5A>C rs149444205 0.00573
NM_014908.4(DOLK):c.1dup (p.Met1fs) rs531969689 0.00573
NM_015910.7(WDPCP):c.1333G>C (p.Ala445Pro) rs61734466 0.00572
NM_016120.4(RLIM):c.777G>A (p.Thr259=) rs148132680 0.00572
NM_000543.5(SMPD1):c.1071C>T (p.Ala357=) rs72896268 0.00571
NM_006662.3(SRCAP):c.3302C>A (p.Thr1101Lys) rs149248373 0.00571
NM_000038.6(APC):c.3949G>C (p.Glu1317Gln) rs1801166 0.00570
NM_000492.4(CFTR):c.3285A>T (p.Thr1095=) rs1800118 0.00570
NM_001999.4(FBN2):c.3762C>T (p.Asp1254=) rs2279582 0.00570
NM_003036.4(SKI):c.1446G>A (p.Ala482=) rs114345135 0.00570
NM_182961.4(SYNE1):c.24952C>T (p.Leu8318Phe) rs141716975 0.00570
NM_000109.4(DMD):c.7+126819G>A rs183089962 0.00569
NM_181882.3(PRX):c.133C>G (p.Arg45Gly) rs115090201 0.00569
NM_201384.3(PLEC):c.9961G>A (p.Gly3321Arg) rs34132016 0.00569
NM_206933.4(USH2A):c.2522C>A (p.Ser841Tyr) rs111033282 0.00569
NM_001195248.2(APTX):c.431C>A (p.Ser144Tyr) rs34778324 0.00568
NM_001039141.3(TRIOBP):c.504C>A (p.Asp168Glu) rs116448422 0.00567
NM_001909.5(CTSD):c.846G>A (p.Gly282=) rs112021026 0.00567
NM_023110.3(FGFR1):c.345C>T (p.Ser115=) rs2915665 0.00567
NM_000089.4(COL1A2):c.948C>T (p.Gly316=) rs34511999 0.00566
NM_004273.5(CHST3):c.417C>T (p.Ala139=) rs144287889 0.00564
NM_007373.4(SHOC2):c.1423-7C>T rs180671383 0.00563
NM_000138.5(FBN1):c.5343G>A (p.Val1781=) rs140649 0.00561
NM_001848.3(COL6A1):c.739-18C>T rs144843800 0.00561
NM_005802.5(TOPORS):c.2160C>T (p.Tyr720=) rs74328058 0.00561
NM_153717.3(EVC):c.284A>G (p.Asp95Gly) rs41269547 0.00561
NM_000018.4(ACADVL):c.636C>T (p.Ala212=) rs76547988 0.00560
NM_000515.5(GH1):c.406G>A (p.Val136Ile) rs5388 0.00560
NM_000535.7(PMS2):c.1569C>G (p.Ser523=) rs141458772 0.00560
NM_014244.5(ADAMTS2):c.1629+9G>A rs115550684 0.00560
NM_025184.4(EFHC2):c.1519G>C (p.Glu507Gln) rs3747354 0.00560
NM_145239.3(PRRT2):c.412C>G (p.Pro138Ala) rs79182085 0.00560
NM_000260.4(MYO7A):c.4074C>T (p.Ser1358=) rs78996818 0.00559
NM_001040142.2(SCN2A):c.5326C>T (p.Leu1776=) rs138123155 0.00559
NM_001267550.2(TTN):c.82740G>A (p.Thr27580=) rs56345408 0.00559
NM_016239.4(MYO15A):c.2790C>T (p.Asp930=) rs185688918 0.00559
NM_030665.4(RAI1):c.4512G>T (p.Leu1504=) rs117995220 0.00559
NM_000432.4(MYL2):c.381G>A (p.Ala127=) rs2233261 0.00558
NM_005709.4(USH1C):c.1266G>A (p.Thr422=) rs35188020 0.00558
NM_000036.3(AMPD1):c.1947T>C (p.Asp649=) rs34287100 0.00557
NM_000426.4(LAMA2):c.4437-5T>A rs41285288 0.00557
NM_004260.4(RECQL4):c.1395G>A (p.Thr465=) rs34948955 0.00557
NM_000719.7(CACNA1C):c.5139C>T (p.Asp1713=) rs115216455 0.00556
NM_001029883.3(PCARE):c.2063G>A (p.Cys688Tyr) rs149601594 0.00556
NM_000023.4(SGCA):c.1120C>T (p.Arg374Cys) rs35495899 0.00555
NM_007194.4(CHEK2):c.1343T>G (p.Ile448Ser) rs17886163 0.00555
NM_001457.4(FLNB):c.720C>T (p.Ala240=) rs111433950 0.00554
NM_002473.6(MYH9):c.136C>T (p.Leu46Phe) rs147122501 0.00554
NM_001267550.2(TTN):c.69676A>G (p.Ser23226Gly) rs72646885 0.00553
NM_001267550.2(TTN):c.1079G>C (p.Arg360Thr) rs56128843 0.00552
NM_198525.3(KIF7):c.1266C>G (p.Leu422=) rs8030837 0.00552
NM_001379081.2(FREM1):c.3575G>A (p.Arg1192His) rs79023327 0.00551
NM_003119.4(SPG7):c.1457G>A (p.Arg486Gln) rs111475461 0.00551
NM_138694.4(PKHD1):c.5725C>T (p.Arg1909Trp) rs115338476 0.00551
NM_031935.3(HMCN1):c.4586A>G (p.Asn1529Ser) rs41317471 0.00550
NM_000426.4(LAMA2):c.2476C>T (p.Arg826Trp) rs118147866 0.00549
NM_004369.4(COL6A3):c.4107C>T (p.Ile1369=) rs35114079 0.00549
NM_012254.3(SLC27A5):c.336G>A (p.Pro112=) rs145284710 0.00549
NM_014425.5(INVS):c.102C>T (p.Ile34=) rs115640267 0.00549
NM_017882.3(CLN6):c.298-6C>T rs117038427 0.00549
NM_001243133.2(NLRP3):c.1020C>T (p.Pro340=) rs41311573 0.00548
NM_001371623.1(TCOF1):c.2762C>T (p.Pro921Leu) rs150515843 0.00548
NM_000426.4(LAMA2):c.4470C>T (p.Asp1490=) rs35089085 0.00547
NM_002693.3(POLG):c.1984G>A (p.Glu662Lys) rs2307450 0.00547
NM_021625.5(TRPV4):c.1153-10C>T rs149541389 0.00547
NM_001845.6(COL4A1):c.393G>A (p.Glu131=) rs34458255 0.00546
NM_004006.3(DMD):c.2622+33A>G rs72468678 0.00546
NM_005518.4(HMGCS2):c.858C>T (p.Ser286=) rs1992376 0.00546
NM_182961.4(SYNE1):c.12000G>A (p.Ala4000=) rs148493518 0.00546
NM_000441.2(SLC26A4):c.1790T>C (p.Leu597Ser) rs55638457 0.00545
NM_001267550.2(TTN):c.29178C>A (p.Ile9726=) rs72650003 0.00545
NM_024740.2(ALG9):c.1383C>T (p.Thr461=) rs45516107 0.00545
NM_176824.3(BBS7):c.1512-7A>T rs115987385 0.00545
NM_001267550.2(TTN):c.32624C>T (p.Pro10875Leu) rs72650031 0.00544
NM_015631.6(TCTN3):c.630T>C (p.Ala210=) rs41299157 0.00543
NM_006201.5(CDK16):c.-6-335C>G rs727503843 0.00542
NM_014714.4(IFT140):c.4040+10C>T rs138364426 0.00542
NM_178012.5(TUBB2B):c.330C>T (p.Ala110=) rs141251993 0.00541
NM_006420.3(ARFGEF2):c.169C>T (p.Pro57Ser) rs73113975 0.00540
NM_000059.4(BRCA2):c.-11C>T rs76874770 0.00539
NM_001037.5(SCN1B):c.300C>T (p.Asp100=) rs16969927 0.00539
NM_138694.4(PKHD1):c.2407+42T>G rs78918693 0.00539
NM_000266.4(NDP):c.69C>G (p.Asp23Glu) rs5952410 0.00538
NM_001061.7(TBXAS1):c.357G>A (p.Ser119=) rs41275018 0.00538
NM_001201543.2(FAM161A):c.2122G>A (p.Glu708Lys) rs77562614 0.00538
NM_004273.5(CHST3):c.1347C>T (p.Arg449=) rs200249458 0.00538
NM_016203.4(PRKAG2):c.207G>A (p.Pro69=) rs144384573 0.00538
NM_001134831.2(AHI1):c.3579T>C (p.Thr1193=) rs115338154 0.00537
NM_001365088.1(SLC12A6):c.1412G>C (p.Ser471Thr) rs140916001 0.00537
NM_024753.5(TTC21B):c.3004C>G (p.Leu1002Val) rs146496725 0.00537
NM_001458.5(FLNC):c.5578C>T (p.Arg1860Cys) rs181067717 0.00536
NM_006204.4(PDE6C):c.1936-9A>G rs182445749 0.00536
NM_001330078.2(NRXN1):c.2421C>T (p.Asn807=) rs115211871 0.00535
NM_003124.5(SPR):c.112G>A (p.Val38Ile) rs146099322 0.00535
NM_017890.5(VPS13B):c.4197T>C (p.Gly1399=) rs149796549 0.00535
NM_000843.4(GRM6):c.19G>A (p.Ala7Thr) rs62642053 0.00533
NM_001267550.2(TTN):c.39709+6C>T rs72650067 0.00533
NM_198525.3(KIF7):c.1885G>A (p.Glu629Lys) rs149814240 0.00533
NM_001267550.2(TTN):c.104560G>C (p.Val34854Leu) rs55866005 0.00531
NM_002863.5(PYGL):c.2112T>C (p.Ala704=) rs35110875 0.00531
NM_000541.5(SAG):c.250C>T (p.Arg84Cys) rs115857633 0.00530
NM_001267550.2(TTN):c.10242C>T (p.Tyr3414=) rs45447891 0.00530
NM_005609.4(PYGM):c.645G>A (p.Lys215=) rs116315896 0.00530
NM_016204.4(GDF2):c.911C>T (p.Thr304Met) rs75024165 0.00530
NM_139315.3(TAF6):c.1722C>T (p.Thr574=) rs145939245 0.00530
NM_172364.5(CACNA2D4):c.2987T>C (p.Phe996Ser) rs55971855 0.00530
NM_152564.5(VPS13B):c.7338T>C (p.Phe2446=) rs150771329 0.00528
NM_182914.3(SYNE2):c.17561T>C (p.Leu5854Pro) rs117070973 0.00528
NM_001848.3(COL6A1):c.1119+39C>T rs74982956 0.00527
NM_001370298.3(FGD4):c.1971C>T (p.Ile657=) rs61748364 0.00526
NM_014425.5(INVS):c.740A>G (p.Asn247Ser) rs41312220 0.00526
NM_000393.5(COL5A2):c.3689C>G (p.Thr1230Arg) rs62184175 0.00525
NM_000719.7(CACNA1C):c.3387G>A (p.Thr1129=) rs188224114 0.00525
NM_001365951.3(KIF1B):c.2115+6956A>G rs148481786 0.00525
NM_012418.4(FSCN2):c.1106-6C>T rs11870517 0.00525
NM_024296.5(CCDC28B):c.463G>A (p.Gly155Arg) rs140234450 0.00525
NM_001493.3(GDI1):c.154-3C>T rs113696246 0.00524
NM_015272.5(RPGRIP1L):c.2925A>G (p.Val975=) rs144313291 0.00524
NM_015386.3(COG4):c.1759C>A (p.Gln587Lys) rs113455884 0.00524
NM_182914.3(SYNE2):c.12378C>T (p.Ser4126=) rs36007735 0.00524
NM_002617.4(PEX10):c.6C>G (p.Ala2=) rs112471479 0.00523
NM_001277115.2(DNAH11):c.939C>T (p.Ser313=) rs72655977 0.00522
NM_001374353.1(GLI2):c.3539G>A (p.Gly1180Asp) rs114823319 0.00522
NM_000554.6(CRX):c.724G>A (p.Val242Met) rs61748459 0.00521
NM_014363.6(SACS):c.4466A>G (p.Asn1489Ser) rs147099630 0.00521
NM_014946.4(SPAST):c.131C>T (p.Ser44Leu) rs121908515 0.00521
NM_024577.4(SH3TC2):c.2087A>G (p.His696Arg) rs17109261 0.00521
NM_000433.4(NCF2):c.1256A>T (p.Asn419Ile) rs35012521 0.00520
NM_000436.4(OXCT1):c.112C>T (p.Arg38Cys) rs76956231 0.00520
NM_002180.3(IGHMBP2):c.741C>T (p.Ala247=) rs76707931 0.00520
NM_001267550.2(TTN):c.47723G>A (p.Arg15908His) rs72677237 0.00519
NM_003383.5(VLDLR):c.2041C>T (p.Leu681=) rs79720897 0.00518
NM_004380.3(CREBBP):c.6685G>A (p.Gly2229Ser) rs139688311 0.00518
NM_138694.4(PKHD1):c.9829+10T>G rs143526199 0.00518
NM_000051.4(ATM):c.6088A>G (p.Ile2030Val) rs145847315 0.00517
NM_000540.3(RYR1):c.5565C>T (p.Gly1855=) rs61750975 0.00517
NM_002180.3(IGHMBP2):c.1104C>T (p.Tyr368=) rs148157556 0.00517
NM_006516.4(SLC2A1):c.417C>T (p.Phe139=) rs144538918 0.00517
NM_138694.4(PKHD1):c.1964+17G>T rs201349527 0.00517
NM_001377295.2(GNAT2):c.933T>C (p.Asn311=) rs34723289 0.00516
NM_002693.3(POLG):c.1550G>T (p.Gly517Val) rs61752783 0.00516
NM_006031.6(PCNT):c.6634C>T (p.Arg2212Trp) rs144471022 0.00516
NM_024105.4(ALG12):c.698G>A (p.Arg233Gln) rs114264124 0.00516
NM_005045.4(RELN):c.5156C>T (p.Ser1719Leu) rs115913736 0.00515
NM_007294.4(BRCA1):c.5406+8T>C rs55946644 0.00514
NM_000110.4(DPYD):c.775A>G (p.Lys259Glu) rs45589337 0.00513
NM_201384.3(PLEC):c.3351C>T (p.Ala1117=) rs145376880 0.00513
NM_000033.4(ABCD1):c.901-10C>T rs2269365 0.00512
NM_000260.4(MYO7A):c.4697C>T (p.Thr1566Met) rs41298747 0.00512
NM_001267550.2(TTN):c.45408G>T (p.Lys15136Asn) rs72677225 0.00512
NM_012254.3(SLC27A5):c.110T>G (p.Leu37Arg) rs146147877 0.00512
NM_000136.3(FANCC):c.77C>T (p.Ser26Phe) rs1800361 0.00511
NM_000168.6(GLI3):c.2179G>A (p.Gly727Arg) rs121917710 0.00511
NM_032634.4(PIGO):c.2040G>C (p.Leu680=) rs41274877 0.00511
NM_133497.4(KCNV2):c.312T>C (p.Gly104=) rs150685794 0.00511
NM_152564.5(VPS13B):c.9592C>T (p.Arg3198Trp) rs149842139 0.00511
NM_000038.6(APC):c.1958+8T>C rs62626346 0.00510
NM_000335.5(SCN5A):c.3508+10C>T rs41258454 0.00510
NM_014639.4(SKIC3):c.585G>A (p.Lys195=) rs73147944 0.00510
NM_002206.3(ITGA7):c.3384C>T (p.Pro1128=) rs148170949 0.00509
NM_001385875.1(ZFYVE27):c.126C>T (p.Leu42=) rs17419023 0.00508
NM_002863.5(PYGL):c.176C>T (p.Thr59Met) rs150483902 0.00507
NM_005045.4(RELN):c.6084C>T (p.Gly2028=) rs114019779 0.00507
NM_000052.7(ATP7A):c.610+8G>A rs144616937 0.00506
NM_002180.3(IGHMBP2):c.151C>G (p.Gln51Glu) rs117061430 0.00506
NM_005379.4(MYO1A):c.2390C>T (p.Ser797Phe) rs113470661 0.00506
NM_012254.3(SLC27A5):c.2006C>G (p.Ala669Gly) rs145618122 0.00506
NM_172107.4(KCNQ2):c.2235G>A (p.Pro745=) rs139587368 0.00506
NM_000038.6(APC):c.532-32T>C rs112108777 0.00505
NM_000257.4(MYH7):c.3153G>A (p.Ala1051=) rs45540831 0.00505
NM_000369.5(TSHR):c.106G>C (p.Asp36His) rs61747482 0.00505
NM_017780.4(CHD7):c.1018A>G (p.Met340Val) rs41305525 0.00505
NM_000744.7(CHRNA4):c.76+18G>T rs199908363 0.00504
NM_001267550.2(TTN):c.98390A>G (p.Asn32797Ser) rs149001703 0.00504
NM_032578.4(MYPN):c.1134C>T (p.Ile378=) rs145701607 0.00504
NM_001330078.2(NRXN1):c.3933A>G (p.Ala1311=) rs79970751 0.00503
NM_004369.4(COL6A3):c.1471G>C (p.Asp491His) rs112010940 0.00503
NM_004369.4(COL6A3):c.1475C>G (p.Thr492Ser) rs113897824 0.00503
NM_201384.3(PLEC):c.9925C>T (p.Arg3309Cys) rs77303974 0.00503
NM_001134407.3(GRIN2A):c.2899G>C (p.Val967Leu) rs61731465 0.00502
NM_005445.4(SMC3):c.2007T>C (p.Tyr669=) rs147404470 0.00501
NM_006393.3(NEBL):c.11C>T (p.Pro4Leu) rs114918858 0.00501
NM_000208.4(INSR):c.3034G>A (p.Val1012Met) rs1799816 0.00500
NM_000543.5(SMPD1):c.813T>C (p.Pro271=) rs61876771 0.00500
NM_032119.4(ADGRV1):c.4939A>G (p.Ile1647Val) rs72782753 0.00500
NM_003476.5(CSRP3):c.213C>T (p.Ile71=) rs45476991 0.00499
NM_004004.6(GJB2):c.341A>G (p.Glu114Gly) rs2274083 0.00499
NM_020223.4(FAM20C):c.646G>A (p.Gly216Arg) rs61734970 0.00499
NM_053025.4(MYLK):c.4764G>A (p.Pro1588=) rs56056823 0.00499
NM_001854.4(COL11A1):c.2578T>A (p.Phe860Ile) rs141548164 0.00498
NM_153026.3(PRICKLE1):c.370G>A (p.Ala124Thr) rs79087668 0.00498
NM_001134831.2(AHI1):c.3368C>T (p.Ser1123Phe) rs117447608 0.00497
NM_001379081.2(FREM1):c.2274C>A (p.Gly758=) rs12235714 0.00497
NM_006915.3(RP2):c.260C>T (p.Thr87Ile) rs147783915 0.00496
NM_013382.7(POMT2):c.652G>A (p.Asp218Asn) rs140785104 0.00496
NM_000070.3(CAPN3):c.318C>T (p.Cys106=) rs117609395 0.00495
NM_001384732.1(CPLANE1):c.5421G>A (p.Lys1807=) rs149313666 0.00495
NM_003742.4(ABCB11):c.2093G>A (p.Arg698His) rs138642043 0.00495
NM_000392.5(ABCC2):c.3107T>C (p.Ile1036Thr) rs45441199 0.00494
NM_006158.5(NEFL):c.667C>T (p.Leu223=) rs60156239 0.00494
NM_000286.3(PEX12):c.102A>T (p.Arg34Ser) rs147530802 0.00493
NM_001267550.2(TTN):c.24973A>G (p.Lys8325Glu) rs72648984 0.00493
NM_001851.6(COL9A1):c.1656T>C (p.Pro552=) rs80251646 0.00493
NM_021098.3(CACNA1H):c.4817C>T (p.Thr1606Met) rs59286323 0.00493
NM_024408.4(NOTCH2):c.7075C>G (p.Pro2359Ala) rs75831573 0.00493
NM_000541.5(SAG):c.301G>A (p.Ala101Thr) rs141521563 0.00492
NM_000798.5(DRD5):c.262C>T (p.Leu88Phe) rs148402761 0.00492
NM_001972.4(ELANE):c.785C>T (p.Pro262Leu) rs17216670 0.00492
NM_000350.3(ABCA4):c.1927G>A (p.Val643Met) rs61749417 0.00491
NM_001130987.2(DYSF):c.3946A>G (p.Ile1316Val) rs121908954 0.00491
NM_001267550.2(TTN):c.21019A>T (p.Ile7007Phe) rs114626713 0.00491
NM_003106.4(SOX2):c.453G>A (p.Ala151=) rs74480245 0.00491
NM_003839.4(TNFRSF11A):c.327C>T (p.Pro109=) rs35003467 0.00491
NM_006420.3(ARFGEF2):c.423+3A>G rs2295029 0.00491
NM_020822.3(KCNT1):c.3295C>T (p.Pro1099Ser) rs200642629 0.00491
NM_022124.6(CDH23):c.6852G>C (p.Leu2284=) rs56013867 0.00491
NM_000443.4(ABCB4):c.1314G>A (p.Thr438=) rs45624933 0.00490
NM_001166114.2(PNPLA6):c.4078G>A (p.Gly1360Ser) rs145178162 0.00490
NM_005477.3(HCN4):c.3288C>T (p.Asp1096=) rs116042117 0.00490
NM_024105.4(ALG12):c.631C>T (p.Arg211Cys) rs144665682 0.00490
NM_000377.3(WAS):c.995T>C (p.Val332Ala) rs2737799 0.00489
NM_000059.4(BRCA2):c.5199C>T (p.Ser1733=) rs28897734 0.00488
NM_000202.8(IDS):c.925A>G (p.Thr309Ala) rs145807417 0.00488
NM_001242957.3(MAK):c.1715T>C (p.Ile572Thr) rs79544660 0.00488
NM_006306.4(SMC1A):c.699G>A (p.Val233=) rs145319852 0.00488
NM_006445.4(PRPF8):c.4467C>T (p.Leu1489=) rs113849788 0.00488
NM_012418.4(FSCN2):c.1425C>A (p.Gly475=) rs398123553 0.00488
NM_020247.5(COQ8A):c.1185C>T (p.Ile395=) rs17849927 0.00488
NM_194318.4(B3GLCT):c.733G>A (p.Val245Met) rs34830061 0.00488
NM_206933.4(USH2A):c.13440G>A (p.Arg4480=) rs111033378 0.00488
NM_000080.4(CHRNE):c.*6A>G rs55806270 0.00487
NM_001698.3(AUH):c.182C>A (p.Pro61His) rs181327211 0.00487
NM_004999.4(MYO6):c.2982G>A (p.Glu994=) rs55905349 0.00487
NM_000287.4(PEX6):c.330C>G (p.Thr110=) rs140486558 0.00486
NM_001040142.2(SCN2A):c.2034A>G (p.Thr678=) rs147891446 0.00486
NM_001297.5(CNGB1):c.634A>T (p.Thr212Ser) rs192628905 0.00486
NM_004006.3(DMD):c.10789C>T (p.Leu3597=) rs1800281 0.00486
NM_005529.7(HSPG2):c.12004C>G (p.Leu4002Val) rs140403186 0.00485
NM_014425.5(INVS):c.725C>T (p.Ser242Leu) rs2491097 0.00485
NM_032119.4(ADGRV1):c.6133G>A (p.Gly2045Arg) rs41308846 0.00484
NM_000153.4(GALC):c.1403C>G (p.Thr468Ser) rs34134328 0.00483
NM_001039141.3(TRIOBP):c.6736G>A (p.Glu2246Lys) rs138139146 0.00483
NM_001374353.1(GLI2):c.720C>T (p.Asp240=) rs142793481 0.00483
NM_004369.4(COL6A3):c.8010G>A (p.Ala2670=) rs79313758 0.00483
NM_021120.4(DLG3):c.357+16G>A rs72549425 0.00482
NM_138694.4(PKHD1):c.6777C>T (p.Phe2259=) rs140065359 0.00482
NM_001277115.2(DNAH11):c.8362C>G (p.His2788Asp) rs147478795 0.00481
NM_001365951.3(KIF1B):c.4158G>A (p.Ser1386=) rs116302604 0.00481
NM_017950.4(CCDC40):c.630C>T (p.Ser210=) rs117419007 0.00481
NM_001399.5(EDA):c.381C>T (p.Ser127=) rs148738342 0.00480
NM_004273.5(CHST3):c.561G>C (p.Val187=) rs147804585 0.00480
NM_021098.3(CACNA1H):c.2265C>T (p.Gly755=) rs61073355 0.00480
NM_000092.5(COL4A4):c.1833T>C (p.Gly611=) rs145806603 0.00479
NM_000255.4(MMUT):c.1629C>T (p.Ser543=) rs150642856 0.00479
NM_000540.3(RYR1):c.5634G>C (p.Glu1878Asp) rs114203198 0.00479
NM_005709.4(USH1C):c.1243G>A (p.Ala415Thr) rs116996553 0.00479
NM_207352.4(CYP4V2):c.*4T>C rs76978024 0.00479
NM_000540.3(RYR1):c.9414G>A (p.Pro3138=) rs116130182 0.00478
NM_001048166.1(STIL):c.3378A>G (p.Arg1126=) rs142315727 0.00478
NM_001844.5(COL2A1):c.4104C>T (p.Pro1368=) rs12721379 0.00478
NM_018006.5(TRMU):c.387A>G (p.Ala129=) rs144586525 0.00478
NM_006946.4(SPTBN2):c.3282G>A (p.Pro1094=) rs114241603 0.00477
NM_022455.5(NSD1):c.1792T>C (p.Leu598=) rs28932176 0.00477
NM_024408.4(NOTCH2):c.3980A>G (p.Asp1327Gly) rs61752484 0.00477
NM_025136.4(OPA3):c.412G>A (p.Ala138Thr) rs201574732 0.00477
NM_001377.3(DYNC2H1):c.3097-4A>G rs368802969 0.00476
NM_001122659.3(EDNRB):c.169G>A (p.Gly57Ser) rs1801710 0.00475
NM_014336.5(AIPL1):c.1126C>T (p.Pro376Ser) rs61757484 0.00475
NM_017882.3(CLN6):c.769A>G (p.Ser257Gly) rs151295143 0.00475
NM_000152.5(GAA):c.546+18G>A rs190153982 0.00474
NM_001849.4(COL6A2):c.2980G>A (p.Ala994Thr) rs117931394 0.00474
NM_001190417.2(ZNF674):c.884G>A (p.Arg295Gln) rs187237351 0.00473
NM_006019.4(TCIRG1):c.1515C>T (p.Thr505=) rs34211419 0.00473
NM_015295.3(SMCHD1):c.2147-7C>T rs113524119 0.00473
NM_000451.4(SHOX):c.63C>T (p.Gly21=) rs142306835 0.00472
NM_000501.4(ELN):c.493G>T (p.Val165Leu) rs61734581 0.00472
NM_001134407.3(GRIN2A):c.3228C>A (p.Asn1076Lys) rs61758995 0.00472
NM_001330078.2(NRXN1):c.1760-16C>T rs79422704 0.00472
NM_020822.3(KCNT1):c.59G>C (p.Gly20Ala) rs146292575 0.00472
NM_000251.3(MSH2):c.1666T>C (p.Leu556=) rs61756466 0.00471
NM_001267550.2(TTN):c.17048A>G (p.Tyr5683Cys) rs72648942 0.00471
NM_003923.3(FOXH1):c.338G>C (p.Ser113Thr) rs144830740 0.00471
NM_133642.5(LARGE1):c.892+50C>T rs62225294 0.00471
NM_017780.4(CHD7):c.2230G>A (p.Gly744Ser) rs141947938 0.00470
NM_022464.5(SIL1):c.368C>T (p.Thr123Ile) rs115800498 0.00470
NM_001379286.1(ZNF423):c.1986C>T (p.His662=) rs75294107 0.00469
NM_000548.5(TSC2):c.4316G>A (p.Gly1439Asp) rs150397923 0.00468
NM_001267550.2(TTN):c.64032C>T (p.Asn21344=) rs72646857 0.00468
NM_005045.4(RELN):c.3712A>C (p.Asn1238His) rs114003896 0.00468
NM_001127222.2(CACNA1A):c.6342C>G (p.Thr2114=) rs16049 0.00467
NM_032119.4(ADGRV1):c.10936T>C (p.Ser3646Pro) rs13171868 0.00467
NM_000124.4(ERCC6):c.3010C>T (p.Leu1004=) rs2274097 0.00466
NM_001134831.2(AHI1):c.2798A>G (p.Tyr933Cys) rs41288013 0.00466
NM_015311.3(OBSL1):c.4192G>A (p.Val1398Ile) rs147543583 0.00466
NM_000088.4(COL1A1):c.3243T>C (p.Val1081=) rs1800217 0.00465
NM_000271.5(NPC1):c.2073G>A (p.Pro691=) rs113013085 0.00465
NM_000283.4(PDE6B):c.655T>C (p.Tyr219His) rs62295357 0.00465
NM_001374353.1(GLI2):c.4281G>A (p.Met1427Ile) rs146467786 0.00465
NM_001374353.1(GLI2):c.4282C>T (p.Leu1428Phe) rs146207623 0.00465
NM_017534.6(MYH2):c.4329C>T (p.Ala1443=) rs61739663 0.00465
NM_001038603.3(MARVELD2):c.500A>G (p.Gln167Arg) rs139854607 0.00464
NM_001130987.2(DYSF):c.777C>T (p.Ile259=) rs138054675 0.00464
NM_001142800.2(EYS):c.5601T>C (p.Ser1867=) rs182322608 0.00464
NM_007294.4(BRCA1):c.5468-10C>A rs8176316 0.00464
NM_000336.3(SCNN1B):c.245C>G (p.Ser82Cys) rs35731153 0.00463
NM_006013.5(RPL10):c.23+9T>A rs2070820 0.00463
NM_020631.6(PLEKHG5):c.691G>A (p.Gly231Ser) rs146651455 0.00463
NM_025114.4(CEP290):c.5506A>G (p.Ile1836Val) rs11104729 0.00463
NM_025152.3(NUBPL):c.77G>T (p.Gly26Val) rs77539990 0.00463
NM_014845.6(FIG4):c.66+10C>T rs200063827 0.00462
NM_182914.3(SYNE2):c.7162G>A (p.Glu2388Lys) rs200842904 0.00462
NM_000108.5(DLD):c.543A>T (p.Ile181=) rs61749952 0.00461
NM_000180.4(GUCY2D):c.2577G>T (p.Pro859=) rs112372281 0.00461
NM_000823.4(GHRHR):c.741C>T (p.Leu247=) rs151019928 0.00461
NM_001035.3(RYR2):c.1863C>T (p.His621=) rs17686573 0.00461
NM_001267550.2(TTN):c.32350C>G (p.Leu10784Val) rs72650029 0.00461
NM_001367624.2(ZNF469):c.9125G>A (p.Arg3042His) rs150598363 0.00461
NM_001048166.1(STIL):c.3786G>A (p.Thr1262=) rs146387723 0.00460
NM_001145809.2(MYH14):c.2792G>A (p.Arg931His) rs200351672 0.00460
NM_001164508.2(NEB):c.9865G>A (p.Gly3289Ser) rs75639119 0.00460
NM_002693.3(POLG):c.3198G>A (p.Thr1066=) rs61752780 0.00460
NM_004006.3(DMD):c.1997C>T (p.Ser666Leu) rs34563188 0.00460
NM_015102.5(NPHP4):c.2812G>A (p.Val938Met) rs184961418 0.00460
NM_000152.5(GAA):c.2580C>T (p.Asp860=) rs61736894 0.00459
NM_000271.5(NPC1):c.3535A>G (p.Met1179Val) rs61731969 0.00459
NM_001386795.1(DTNA):c.210G>A (p.Leu70=) rs117571555 0.00459
NM_001844.5(COL2A1):c.4327G>A (p.Gly1443Ser) rs78690642 0.00459
NM_001330078.2(NRXN1):c.2122C>A (p.Leu708Ile) rs56086732 0.00458
NM_006269.2(RP1):c.616-6T>C rs186571865 0.00458
NM_000083.3(CLCN1):c.899G>A (p.Arg300Gln) rs118066140 0.00457
NM_004369.4(COL6A3):c.6592-27del rs60436236 0.00457
NM_000540.3(RYR1):c.11034+20G>T rs186460831 0.00456
NM_001257180.2(SLC20A2):c.1812C>T (p.Ala604=) rs116401889 0.00456
NM_017534.6(MYH2):c.2908G>A (p.Val970Ile) rs143872329 0.00456
NM_000263.4(NAGLU):c.1788C>T (p.Gly596=) rs115166595 0.00455
NM_014141.6(CNTNAP2):c.3382-7C>T rs189589051 0.00454
NM_130839.5(UBE3A):c.2124+9T>C rs79328837 0.00454
NM_001193315.2(VIPAS39):c.1242G>A (p.Leu414=) rs45447095 0.00453
NM_006445.4(PRPF8):c.101-3C>T rs75670228 0.00453
NM_018718.3(CEP41):c.208-5A>G rs11765434 0.00453
NM_001110219.3(GJB6):c.595T>A (p.Ser199Thr) rs111033338 0.00452
NM_001110556.2(FLNA):c.663C>T (p.Pro221=) rs2073470 0.00452
NM_000528.4(MAN2B1):c.2006C>T (p.Pro669Leu) rs75029862 0.00451
NM_001127222.2(CACNA1A):c.1357G>A (p.Ala453Thr) rs41276886 0.00451
NM_001323289.2(CDKL5):c.1797C>G (p.Thr599=) rs141478957 0.00451
NM_006279.5(ST3GAL3):c.636C>T (p.Gly212=) rs12140044 0.00451
NM_152564.5(VPS13B):c.3386A>G (p.Lys1129Arg) rs61759485 0.00451
NM_000182.5(HADHA):c.1981C>T (p.Leu661=) rs142348718 0.00450
NM_024675.4(PALB2):c.2794G>A (p.Val932Met) rs45624036 0.00449
NM_031935.3(HMCN1):c.15011C>T (p.Thr5004Ile) rs114629728 0.00449
NM_194318.4(B3GLCT):c.1134C>T (p.Tyr378=) rs34854594 0.00449
NM_001164508.2(NEB):c.18693G>C (p.Ala6231=) rs141338915 0.00448
NM_006019.4(TCIRG1):c.247A>G (p.Lys83Glu) rs142855299 0.00448
NM_031935.3(HMCN1):c.15010A>T (p.Thr5004Ser) rs114364265 0.00448
NM_182894.3(VSX2):c.299C>A (p.Pro100Gln) rs35214083 0.00448
NM_001360.3(DHCR7):c.1008C>T (p.His336=) rs75225632 0.00447
NM_022124.6(CDH23):c.9758A>C (p.Asp3253Ala) rs140463385 0.00447
NM_001035.3(RYR2):c.14029C>T (p.Leu4677=) rs112864477 0.00446
NM_001110556.2(FLNA):c.1176G>A (p.Glu392=) rs201173693 0.00446
NM_000440.3(PDE6A):c.1086G>A (p.Ala362=) rs142259966 0.00445
NM_000492.4(CFTR):c.3718-2530A>G rs213990 0.00445
NM_001278116.2(L1CAM):c.1002C>T (p.Tyr334=) rs73640833 0.00445
NM_002381.5(MATN3):c.62T>G (p.Leu21Arg) rs573907581 0.00445
NM_172107.4(KCNQ2):c.2031G>A (p.Arg677=) rs35647984 0.00445
NM_015922.3(NSDHL):c.1054C>T (p.Leu352=) rs142351862 0.00444
NM_016341.4(PLCE1):c.1729G>A (p.Ala577Thr) rs141639885 0.00444
NM_017534.6(MYH2):c.5780G>A (p.Arg1927Gln) rs34161789 0.00444
NM_001142800.2(EYS):c.8429C>T (p.Thr2810Ile) rs144513453 0.00443
NM_138959.3(VANGL1):c.435T>C (p.Cys145=) rs34768472 0.00443
NM_198586.3(NHLRC1):c.303G>T (p.Pro101=) rs187783545 0.00443
NM_014000.3(VCL):c.1317T>C (p.Ser439=) rs71579355 0.00442
NM_139125.4(MASP1):c.1746G>A (p.Pro582=) rs3821805 0.00442
NM_172364.5(CACNA2D4):c.2189C>T (p.Ala730Val) rs181994120 0.00442
NM_000051.4(ATM):c.5558A>T (p.Asp1853Val) rs1801673 0.00441
NM_001033855.3(DCLRE1C):c.1893C>T (p.Pro631=) rs41300676 0.00441
NM_001164508.2(NEB):c.12147G>A (p.Lys4049=) rs149639365 0.00441
NM_201384.3(PLEC):c.5165C>T (p.Thr1722Met) rs377665141 0.00440
NM_000059.4(BRCA2):c.7008-62A>G rs76584943 0.00439
NM_000138.5(FBN1):c.6594C>T (p.Pro2198=) rs111844882 0.00439
NM_001943.5(DSG2):c.2759T>G (p.Val920Gly) rs142841727 0.00439
NM_201384.3(PLEC):c.854G>A (p.Arg285Gln) rs188076386 0.00439
NM_000493.4(COL10A1):c.150T>A (p.Ser50Arg) rs142411445 0.00438
NM_001384140.1(PCDH15):c.4671+1087C>T rs12359240 0.00438
NM_004369.4(COL6A3):c.4895G>A (p.Arg1632Gln) rs111231885 0.00438
NM_004380.3(CREBBP):c.5933A>G (p.Asn1978Ser) rs112906840 0.00438
NM_007214.5(SEC63):c.340-12G>T rs2064201 0.00438
NM_006031.6(PCNT):c.4285C>T (p.Arg1429Cys) rs62224222 0.00437
NM_019066.5(MAGEL2):c.3017C>G (p.Thr1006Ser) rs138628273 0.00437
NM_000057.4(BLM):c.4076+4T>G rs183176301 0.00436
NM_000138.5(FBN1):c.1746C>T (p.Cys582=) rs112366266 0.00436
NM_000390.4(CHM):c.1488G>A (p.Thr496=) rs74349919 0.00436
NM_001170629.2(CHD8):c.27C>T (p.Phe9=) rs75191413 0.00436
NM_001457.4(FLNB):c.4872C>T (p.Ile1624=) rs147426569 0.00436
NM_002473.6(MYH9):c.1083C>T (p.Asp361=) rs56001030 0.00436
NM_000138.5(FBN1):c.4905C>G (p.Thr1635=) rs113115949 0.00435
NM_001189.4(NKX3-2):c.942G>C (p.Pro314=) rs111283169 0.00435
NM_001319074.4(RAX2):c.45T>G (p.Gly15=) rs139127905 0.00435
NM_024301.5(FKRP):c.235G>A (p.Val79Met) rs104894683 0.00435
NM_000057.4(BLM):c.410A>G (p.Lys137Arg) rs28384988 0.00434
NM_005562.3(LAMC2):c.2754+9T>C rs113467864 0.00434
NM_182914.3(SYNE2):c.6321C>T (p.Ser2107=) rs143410137 0.00434
NM_194248.3(OTOF):c.2215-19C>G rs111033427 0.00434
NM_003482.4(KMT2D):c.13045C>G (p.Pro4349Ala) rs181733689 0.00433
NM_000088.4(COL1A1):c.1168G>A (p.Ala390Thr) rs116794104 0.00432
NM_004369.4(COL6A3):c.1182C>T (p.Thr394=) rs114750216 0.00432
NM_001966.4(EHHADH):c.2117A>T (p.Asn706Ile) rs56056620 0.00431
NM_004369.4(COL6A3):c.9069C>T (p.Thr3023=) rs111234422 0.00431
NM_001164508.2(NEB):c.19455G>A (p.Lys6485=) rs182847302 0.00430
NM_182961.4(SYNE1):c.5341A>T (p.Ile1781Phe) rs141796889 0.00430
NM_000179.3(MSH6):c.1345C>T (p.Leu449=) rs3136333 0.00429
NM_001134831.2(AHI1):c.2972G>A (p.Arg991His) rs35851478 0.00429
NM_002857.4(PEX19):c.771+3A>G rs141133579 0.00429
NM_032119.4(ADGRV1):c.5525-7C>T rs137853919 0.00429
NM_001127644.2(GABRA1):c.1323G>A (p.Thr441=) rs138259457 0.00428
NM_000256.3(MYBPC3):c.833G>A (p.Gly278Glu) rs147315081 0.00427
NM_001999.4(FBN2):c.1040G>A (p.Arg347His) rs112428886 0.00427
NM_007078.3(LDB3):c.690-4A>G rs45529531 0.00427
NM_001291415.2(KDM6A):c.3834T>C (p.His1278=) rs138989066 0.00426
NM_001848.3(COL6A1):c.1056C>T (p.Asp352=) rs116343553 0.00426
NM_014780.5(CUL7):c.5088C>T (p.Thr1696=) rs73733789 0.00426
NM_015295.3(SMCHD1):c.1419A>G (p.Glu473=) rs117771893 0.00426
NM_004999.4(MYO6):c.3824A>G (p.Tyr1275Cys) rs146461956 0.00424
NM_015404.4(WHRN):c.2586C>A (p.His862Gln) rs117592152 0.00424
NM_206933.4(USH2A):c.2546G>A (p.Cys849Tyr) rs111033481 0.00424
NM_031885.5(BBS2):c.805-20A>G rs41280892 0.00423
NM_033056.4(PCDH15):c.5603C>T (p.Thr1868Met) rs191736346 0.00423
NM_198525.3(KIF7):c.49C>T (p.Arg17Trp) rs141865394 0.00423
NM_000540.3(RYR1):c.3972G>A (p.Ala1324=) rs200451188 0.00422
NM_000540.3(RYR1):c.5493G>T (p.Gly1831=) rs140004449 0.00422
NM_001354768.3(NRL):c.711C>G (p.Leu237=) rs8009051 0.00422
NM_001378454.1(ALMS1):c.11821G>A (p.Gly3941Ser) rs61741524 0.00422
NM_022773.4(LMF1):c.302G>C (p.Arg101Thr) rs147688306 0.00422
NM_153252.5(BRWD3):c.33G>A (p.Glu11=) rs139071237 0.00422
NM_000057.4(BLM):c.3128C>A (p.Ala1043Asp) rs2229035 0.00421
NM_004369.4(COL6A3):c.8735C>T (p.Pro2912Leu) rs112928650 0.00421
NM_201384.3(PLEC):c.9423C>T (p.Gly3141=) rs61529674 0.00421
NM_000245.4(MET):c.504G>T (p.Glu168Asp) rs55985569 0.00420
NM_002437.5(MPV17):c.27G>T (p.Arg9=) rs35244252 0.00420
NM_002768.5(CHMP1A):c.27+10G>A rs140547967 0.00420
NM_015102.5(NPHP4):c.2293G>A (p.Val765Ile) rs149244006 0.00420
NM_000036.3(AMPD1):c.1845C>T (p.Ile615=) rs34257411 0.00419
NM_007294.4(BRCA1):c.4039A>G (p.Arg1347Gly) rs28897689 0.00419
NM_020822.3(KCNT1):c.30G>A (p.Pro10=) rs139034501 0.00419
NM_021072.4(HCN1):c.1797A>G (p.Ser599=) rs148932124 0.00419
NM_206933.4(USH2A):c.14074G>A (p.Gly4692Arg) rs45549044 0.00419
NM_003036.4(SKI):c.1834C>T (p.Leu612=) rs35833638 0.00418
NM_000036.3(AMPD1):c.1911C>T (p.Phe637=) rs34778674 0.00417
NM_000540.3(RYR1):c.7209C>T (p.Arg2403=) rs78795178 0.00417
NM_001029883.3(PCARE):c.3789G>A (p.Leu1263=) rs199689791 0.00417
NM_001367624.2(ZNF469):c.10795G>T (p.Ala3599Ser) rs199760004 0.00417
NM_001083961.2(WDR62):c.3946C>G (p.Gln1316Glu) rs35811023 0.00416
NM_005477.3(HCN4):c.2831C>T (p.Ala944Val) rs144450232 0.00416
NM_000540.3(RYR1):c.8949T>C (p.Ser2983=) rs116537677 0.00415
NM_001256789.3(CACNA1F):c.5829C>T (p.Asp1943=) rs138189763 0.00415
NM_001365951.3(KIF1B):c.5250A>G (p.Ala1750=) rs75413741 0.00415
NM_012448.4(STAT5B):c.247C>T (p.Leu83=) rs146176992 0.00415
NM_000141.5(FGFR2):c.159G>A (p.Ala53=) rs1047102 0.00414
NM_000426.4(LAMA2):c.3556-15T>G rs17741922 0.00414
NM_000515.5(GH1):c.152T>A (p.Phe51Tyr) rs61735357 0.00414
NM_001369.3(DNAH5):c.2253C>A (p.Asn751Lys) rs115004914 0.00414
NM_001458.5(FLNC):c.1902G>A (p.Glu634=) rs12536635 0.00414
NM_031448.6(C19orf12):c.69G>A (p.Ala23=) rs201118405 0.00414
NM_032119.4(ADGRV1):c.4254T>C (p.Tyr1418=) rs149459739 0.00414
NM_181332.3(NLGN4X):c.558C>T (p.Asp186=) rs145911431 0.00414
NM_206933.4(USH2A):c.6270A>G (p.Leu2090=) rs56245532 0.00414
NM_001035.3(RYR2):c.7365C>T (p.Asp2455=) rs72549416 0.00413
NM_000520.6(HEXA):c.759G>A (p.Val253=) rs117513345 0.00412
NM_152564.5(VPS13B):c.7152G>A (p.Pro2384=) rs61753725 0.00412
NM_001130987.2(DYSF):c.386G>A (p.Gly129Glu) rs34997054 0.00411
NM_001384140.1(PCDH15):c.3502-8C>T rs184144118 0.00411
NM_020631.6(PLEKHG5):c.1254C>G (p.Pro418=) rs139904931 0.00411
NM_001128205.2(SULF1):c.1111A>G (p.Ile371Val) rs118056333 0.00410
NM_001429.4(EP300):c.2773C>A (p.Pro925Thr) rs148884710 0.00410
NM_000540.3(RYR1):c.11941C>T (p.His3981Tyr) rs148772854 0.00409
NM_014249.4(NR2E3):c.245+8C>T rs9920371 0.00409
NM_201384.3(PLEC):c.13402G>A (p.Ala4468Thr) rs112322162 0.00409
NM_000260.4(MYO7A):c.5835C>T (p.Leu1945=) rs111033476 0.00408
NM_001379286.1(ZNF423):c.3291C>T (p.Tyr1097=) rs150027129 0.00408
NM_018100.4(EFHC1):c.629A>T (p.Asp210Val) rs73740379 0.00408
NM_004006.3(DMD):c.7542+13A>G rs72466585 0.00407
NM_001457.4(FLNB):c.3090C>T (p.Tyr1030=) rs112968165 0.00406
NM_007254.4(PNKP):c.1032G>A (p.Arg344=) rs185452809 0.00406
NM_147127.5(EVC2):c.1364C>G (p.Thr455Arg) rs141287105 0.00406
NM_014141.6(CNTNAP2):c.854G>C (p.Gly285Ala) rs150918383 0.00405
NM_000117.3(EMD):c.465C>T (p.Tyr155=) rs143447675 0.00404
NM_001145809.2(MYH14):c.2763A>G (p.Lys921=) rs191788683 0.00404
NM_004840.3(ARHGEF6):c.362G>A (p.Arg121His) rs35106300 0.00404
NM_033100.4(CDHR1):c.1868A>G (p.Asn623Ser) rs137876961 0.00404
NM_201384.3(PLEC):c.5712C>T (p.Ser1904=) rs115735672 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_206933.4(USH2A):c.8937A>G (p.Val2979=) rs139100097 0.00404
NM_001367624.2(ZNF469):c.7675A>G (p.Lys2559Glu) rs146789160 0.00403
NM_201384.3(PLEC):c.3682C>T (p.Arg1228Trp) rs144610086 0.00403
NM_001199799.2(ILDR1):c.1581G>A (p.Gly527=) rs142243054 0.00402
NM_003482.4(KMT2D):c.6076A>G (p.Ile2026Val) rs190995850 0.00402
NM_006662.3(SRCAP):c.5705A>G (p.Glu1902Gly) rs117480926 0.00402
NM_020184.4(CNNM4):c.399G>A (p.Val133=) rs34147094 0.00402
NM_000203.5(IDUA):c.1190-17_1190-16insA rs201559436 0.00401
NM_001848.3(COL6A1):c.1335+20G>C rs9306146 0.00401
NM_003742.4(ABCB11):c.2134T>C (p.Leu712=) rs191649793 0.00401
NM_021120.4(DLG3):c.304G>A (p.Gly102Ser) rs11797456 0.00401
NM_201384.3(PLEC):c.6757G>A (p.Ala2253Thr) rs62641756 0.00401
NM_001190417.2(ZNF674):c.692A>G (p.Lys231Arg) rs201621696 0.00400
NM_001267550.2(TTN):c.72132T>C (p.Gly24044=) rs56169243 0.00400
NM_030665.4(RAI1):c.1142C>T (p.Ala381Val) rs113208290 0.00400
NM_001035.3(RYR2):c.7038A>C (p.Ala2346=) rs116601686 0.00399
NM_004333.6(BRAF):c.1383A>G (p.Gln461=) rs56216404 0.00399
NM_004595.5(SMS):c.1026A>C (p.Ser342=) rs61732077 0.00399
NM_005592.4(MUSK):c.398T>C (p.Ile133Thr) rs55980069 0.00399
NM_020822.3(KCNT1):c.116C>T (p.Pro39Leu) rs201051863 0.00399
NM_000515.5(GH1):c.150C>A (p.Ala50=) rs61735359 0.00398
NM_004360.5(CDH1):c.532-18C>T rs200673941 0.00398
NM_014845.6(FIG4):c.27C>T (p.Ile9=) rs141040807 0.00398
NM_015910.7(WDPCP):c.68C>A (p.Pro23Gln) rs141340867 0.00398
NM_001035.3(RYR2):c.7488C>T (p.Leu2496=) rs143906555 0.00397
NM_145167.3(PIGM):c.6C>T (p.Gly2=) rs61757715 0.00397
NM_000059.4(BRCA2):c.6347A>G (p.His2116Arg) rs55953736 0.00396
NM_004369.4(COL6A3):c.1231C>G (p.Leu411Val) rs113716915 0.00396
NM_006005.3(WFS1):c.1675G>A (p.Ala559Thr) rs55814513 0.00396
NM_018136.5(ASPM):c.4213C>T (p.Arg1405Cys) rs139367209 0.00396
NM_031471.6(FERMT3):c.1917G>A (p.Thr639=) rs150686744 0.00396
NM_152564.5(VPS13B):c.8903A>G (p.Asn2968Ser) rs28940272 0.00396
NM_182961.4(SYNE1):c.10037C>A (p.Ser3346Tyr) rs150170988 0.00396
NM_001177316.2(SLC34A3):c.273C>T (p.Asp91=) rs145677050 0.00395
NM_001701.4(BAAT):c.951G>A (p.Gln317=) rs61756326 0.00395
NM_152617.4(RNF168):c.1237G>A (p.Glu413Lys) rs6790173 0.00395
NM_182961.4(SYNE1):c.10056T>C (p.Ser3352=) rs140861713 0.00395
NM_001848.3(COL6A1):c.1813+25T>G rs191946565 0.00394
NM_003482.4(KMT2D):c.8064G>A (p.Glu2688=) rs148457961 0.00394
NM_004984.4(KIF5A):c.2769G>A (p.Arg923=) rs35225609 0.00394
NM_014425.5(INVS):c.1948G>C (p.Ala650Pro) rs147452898 0.00394
NM_000440.3(PDE6A):c.933+4C>T rs12109444 0.00393
NM_018136.5(ASPM):c.7554A>G (p.Arg2518=) rs140248383 0.00393
NM_001032386.2(SUOX):c.1358G>A (p.Gly453Asp) rs76537761 0.00392
NM_004369.4(COL6A3):c.4285+17G>A rs3791000 0.00392
NM_004369.4(COL6A3):c.4683G>A (p.Gln1561=) rs113074898 0.00392
NM_198428.3(BBS9):c.1993C>T (p.Leu665Phe) rs116262072 0.00392
NM_001378414.1(HDAC4):c.955G>A (p.Ala319Thr) rs76224543 0.00391
NM_020549.5(CHAT):c.1372C>T (p.Leu458Phe) rs76014951 0.00391
NM_001379110.1(SLC9A6):c.1029A>C (p.Ala343=) rs142049079 0.00390
NM_004260.4(RECQL4):c.3133G>A (p.Ala1045Thr) rs35348691 0.00390
NM_000443.4(ABCB4):c.2800G>A (p.Ala934Thr) rs61730509 0.00389
NM_001079668.3(NKX2-1):c.1093G>T (p.Ala365Ser) rs147542347 0.00389
NM_001853.4(COL9A3):c.410T>C (p.Leu137Pro) rs147947060 0.00389
NM_004369.4(COL6A3):c.2030G>A (p.Arg677His) rs35227432 0.00389
NM_005476.7(GNE):c.624T>G (p.Asp208Glu) rs35224402 0.00389
NM_006005.3(WFS1):c.917T>C (p.Met306Thr) rs146114074 0.00389
NM_006348.5(COG5):c.1247A>G (p.Tyr416Cys) rs41276187 0.00389
NM_031885.5(BBS2):c.1110T>C (p.Ala370=) rs148990271 0.00389
NM_173630.4(RTTN):c.4889G>C (p.Arg1630Thr) rs182595458 0.00389
NM_000158.4(GBE1):c.839G>A (p.Gly280Asp) rs28763902 0.00388
NM_001385875.1(ZFYVE27):c.62C>T (p.Ala21Val) rs140812293 0.00388
NM_001999.4(FBN2):c.5496C>T (p.Arg1832=) rs35346129 0.00388
NM_004369.4(COL6A3):c.8572G>A (p.Val2858Ile) rs111859552 0.00388
NM_004369.4(COL6A3):c.8745G>A (p.Ala2915=) rs112382351 0.00388
NM_006899.5(IDH3B):c.117+6C>A rs191680997 0.00388
NM_015311.3(OBSL1):c.3283G>A (p.Ala1095Thr) rs186692362 0.00388
NM_001372044.2(SHANK3):c.3588C>T (p.Ser1196=) rs200077311 0.00387
NM_001384910.1(GUCA1A):c.9C>T (p.Asn3=) rs116114043 0.00387
NM_002546.4(TNFRSF11B):c.885T>A (p.Leu295=) rs11573942 0.00387
NM_004369.4(COL6A3):c.6211-3C>T rs139622600 0.00387
NM_000260.4(MYO7A):c.5866G>A (p.Val1956Ile) rs142293185 0.00386
NM_001291867.2(NHS):c.2831A>T (p.His944Leu) rs149244552 0.00386
NM_001365536.1(SCN9A):c.1398C>T (p.Ser466=) rs201531206 0.00386
NM_000091.5(COL4A3):c.3258G>A (p.Gly1086=) rs147085074 0.00385
NM_181332.3(NLGN4X):c.2280C>T (p.Tyr760=) rs75350246 0.00384
NM_000052.7(ATP7A):c.4226+11T>C rs200009243 0.00383
NM_000550.3(TYRP1):c.977G>A (p.Arg326His) rs16929374 0.00383
NM_001134831.2(AHI1):c.2505G>A (p.Arg835=) rs41288017 0.00383
NM_001379110.1(SLC9A6):c.-57+50G>T rs201523857 0.00383
NM_003392.7(WNT5A):c.588C>T (p.Phe196=) rs200868061 0.00383
NM_016616.5(NME8):c.739G>A (p.Glu247Lys) rs139516225 0.00383
NM_000195.5(HPS1):c.597C>T (p.Pro199=) rs113520308 0.00382
NM_181486.4(TBX5):c.331G>T (p.Asp111Tyr) rs77357563 0.00382
NM_000381.4(MID1):c.861G>A (p.Gly287=) rs147909430 0.00381
NM_006790.3(MYOT):c.1008G>T (p.Val336=) rs142828368 0.00381
NM_032119.4(ADGRV1):c.6318G>A (p.Ala2106=) rs190981860 0.00381
NM_182961.4(SYNE1):c.1794A>C (p.Ser598=) rs141424852 0.00381
NM_000052.7(ATP7A):c.1823A>G (p.Tyr608Cys) rs61742278 0.00380
NM_001194998.2(CEP152):c.4094-9A>T rs80090788 0.00380
NM_000169.3(GLA):c.194+17A>G rs2071226 0.00379
NM_001039141.3(TRIOBP):c.265C>G (p.Pro89Ala) rs199646135 0.00379
NM_001429.4(EP300):c.2091T>G (p.Ser697Arg) rs61756764 0.00379
NM_014008.5(CCDC22):c.1163G>A (p.Arg388His) rs113045747 0.00379
NM_022124.6(CDH23):c.9015G>A (p.Ala3005=) rs376497158 0.00379
NM_133433.4(NIPBL):c.1965G>T (p.Glu655Asp) rs80358350 0.00379
NM_206933.4(USH2A):c.15433G>A (p.Val5145Ile) rs111033269 0.00379
NM_207361.6(FREM2):c.8902G>A (p.Val2968Ile) rs116099212 0.00379
NM_000441.2(SLC26A4):c.565G>T (p.Ala189Ser) rs35045430 0.00378
NM_000875.5(IGF1R):c.1950G>T (p.Arg650=) rs56294552 0.00378
NM_032119.4(ADGRV1):c.14309G>A (p.Arg4770His) rs41304892 0.00378
NM_206933.4(USH2A):c.7130A>G (p.Asn2377Ser) rs111033394 0.00378
NM_000631.5(NCF4):c.254C>A (p.Thr85Asn) rs112306225 0.00377
NM_000193.4(SHH):c.897G>C (p.Leu299=) rs9333635 0.00376
NM_000288.4(PEX7):c.377A>C (p.Gln126Pro) rs113268723 0.00376
NM_000381.4(MID1):c.498G>A (p.Pro166=) rs7391874 0.00376
NM_153026.3(PRICKLE1):c.108C>T (p.Val36=) rs147268650 0.00376
NM_000327.4(ROM1):c.686G>A (p.Arg229His) rs150168119 0.00375
NM_017534.6(MYH2):c.4989G>A (p.Leu1663=) rs61736461 0.00375
NM_024408.4(NOTCH2):c.4238T>A (p.Leu1413His) rs41313282 0.00375
NM_198428.3(BBS9):c.1246G>A (p.Val416Met) rs61764067 0.00375
NM_000381.4(MID1):c.1299G>A (p.Ser433=) rs143673869 0.00374
NM_000543.5(SMPD1):c.901G>A (p.Val301Ile) rs2723669 0.00374
NM_201384.3(PLEC):c.6513G>A (p.Lys2171=) rs184102912 0.00374
NM_001110556.2(FLNA):c.882A>G (p.Thr294=) rs184864998 0.00373
NM_001194998.2(CEP152):c.3325G>C (p.Ala1109Pro) rs115832709 0.00373
NM_002529.4(NTRK1):c.16C>T (p.Arg6Trp) rs201472270 0.00373
NM_004463.3(FGD1):c.110C>T (p.Ala37Val) rs75659311 0.00373
NM_005529.7(HSPG2):c.3269G>A (p.Arg1090Gln) rs78889849 0.00373
NM_000138.5(FBN1):c.306C>T (p.Cys102=) rs25388 0.00372
NM_000335.5(SCN5A):c.1441C>T (p.Arg481Trp) rs144511230 0.00372
NM_001161352.2(KCNMA1):c.3240C>T (p.Asn1080=) rs45586138 0.00372
NM_001201543.2(FAM161A):c.197C>T (p.Thr66Ile) rs145199539 0.00372
NM_001267550.2(TTN):c.25978G>A (p.Val8660Ile) rs141856116 0.00372
NM_000147.5(FUCA1):c.402G>C (p.Leu134Phe) rs143691289 0.00371
NM_000397.4(CYBB):c.1090G>C (p.Gly364Arg) rs141756032 0.00371
NM_000543.5(SMPD1):c.99G>A (p.Met33Ile) rs142178073 0.00371
NM_004260.4(RECQL4):c.3314G>A (p.Gly1105Asp) rs36078464 0.00371
NM_015311.3(OBSL1):c.1245G>A (p.Arg415=) rs61732788 0.00371
NM_025114.4(CEP290):c.1522+6C>T rs148446546 0.00371
NM_000535.7(PMS2):c.1609G>A (p.Glu537Lys) rs115052399 0.00370
NM_004836.7(EIF2AK3):c.154G>A (p.Ala52Thr) rs201593811 0.00370
NM_024915.4(GRHL2):c.1098+9C>T rs189993760 0.00370
NM_001244008.2(KIF1A):c.3259C>T (p.Pro1087Ser) rs143037290 0.00369
NM_014014.5(SNRNP200):c.1159A>G (p.Met387Val) rs142729495 0.00369
NM_206933.4(USH2A):c.6257C>A (p.Thr2086Asn) rs149202379 0.00369
NM_002471.4(MYH6):c.4395G>A (p.Ser1465=) rs74039310 0.00368
NM_022124.6(CDH23):c.6596T>A (p.Ile2199Asn) rs111033494 0.00368
NM_005122.5(NR1I3):c.930G>A (p.Ala310=) rs36017137 0.00367
NM_001128178.3(NPHP1):c.14G>T (p.Arg5Leu) rs190983114 0.00366
NM_004064.5(CDKN1B):c.426G>A (p.Thr142=) rs149775942 0.00366
NM_014336.5(AIPL1):c.267C>T (p.Cys89=) rs62653020 0.00366
NM_017950.4(CCDC40):c.3424T>C (p.Ser1142Pro) rs148900528 0.00366
NM_147127.5(EVC2):c.2047-9A>T rs73198154 0.00366
NM_153676.4(USH1C):c.946G>C (p.Glu316Gln) rs35336155 0.00366
NM_000709.4(BCKDHA):c.975C>T (p.Leu325=) rs55940366 0.00365
NM_001029883.3(PCARE):c.3739G>A (p.Gly1247Ser) rs187333111 0.00365
NM_001040142.2(SCN2A):c.2723A>G (p.Lys908Arg) rs2228980 0.00365
NM_001849.4(COL6A2):c.2886C>T (p.His962=) rs115970356 0.00365
NM_017950.4(CCDC40):c.3349G>A (p.Glu1117Lys) rs145595957 0.00365
NM_133433.4(NIPBL):c.535G>A (p.Ala179Thr) rs142923613 0.00365
NM_001005361.3(DNM2):c.2543+7C>G rs201979143 0.00364
NM_015404.4(WHRN):c.1454C>T (p.Pro485Leu) rs79572315 0.00364
NM_207361.6(FREM2):c.6925+7G>T rs79530106 0.00364
NM_000271.5(NPC1):c.3598A>G (p.Ser1200Gly) rs35248744 0.00363
NM_000287.4(PEX6):c.1071A>G (p.Leu357=) rs116318004 0.00363
NM_001164508.2(NEB):c.1413C>T (p.Phe471=) rs112958786 0.00363
NM_001277313.2(FMN1):c.2614C>T (p.Pro872Ser) rs77531455 0.00363
NM_001453.3(FOXC1):c.502C>T (p.Leu168=) rs148739656 0.00363
NM_001999.4(FBN2):c.6511+5G>A rs200608284 0.00363
NM_004369.4(COL6A3):c.6972C>T (p.Asn2324=) rs113961575 0.00363
NM_000053.4(ATP7B):c.3369G>A (p.Pro1123=) rs61733679 0.00362
NM_000104.4(CYP1B1):c.241T>A (p.Tyr81Asn) rs9282671 0.00362
NM_000152.5(GAA):c.447G>A (p.Thr149=) rs2289536 0.00362
NM_001852.4(COL9A2):c.31C>T (p.Leu11Phe) rs74506933 0.00361
NM_005045.4(RELN):c.5108C>G (p.Pro1703Arg) rs2229860 0.00361
NM_015311.3(OBSL1):c.569C>G (p.Ala190Gly) rs148433261 0.00361
NM_152419.3(HGSNAT):c.1843G>A (p.Ala615Thr) rs112029032 0.00361
NM_001015877.2(PHF6):c.374+8T>C rs142596708 0.00360
NM_001457.4(FLNB):c.2382C>T (p.Asp794=) rs146159035 0.00360
NM_004369.4(COL6A3):c.1638C>T (p.Ala546=) rs112040282 0.00360
NM_000138.5(FBN1):c.3082+8del rs193922196 0.00359
NM_000199.5(SGSH):c.701C>G (p.Ala234Gly) rs113641837 0.00359
NM_000360.4(TH):c.267G>A (p.Arg89=) rs76240471 0.00359
NM_000426.4(LAMA2):c.1634T>A (p.Leu545Gln) rs118083923 0.00359
NM_001010892.3(RSPH4A):c.144G>A (p.Gly48=) rs112350099 0.00359
NM_001267550.2(TTN):c.101665G>A (p.Val33889Ile) rs34924609 0.00359
NM_003238.6(TGFB2):c.1239C>T (p.Cys413=) rs141225367 0.00359
NM_024301.5(FKRP):c.427C>A (p.Arg143Ser) rs148206382 0.00359
NM_000038.6(APC):c.7862C>G (p.Ser2621Cys) rs72541816 0.00358
NM_000487.6(ARSA):c.1002C>T (p.Ser334=) rs147027229 0.00358
NM_017780.4(CHD7):c.8950C>T (p.Leu2984Phe) rs184814820 0.00358
NM_022124.6(CDH23):c.3074G>A (p.Gly1025Asp) rs143179070 0.00358
NM_001376.5(DYNC1H1):c.4533G>A (p.Pro1511=) rs150900416 0.00357
NM_002047.4(GARS1):c.803C>T (p.Thr268Ile) rs2230310 0.00357
NM_005529.7(HSPG2):c.1082C>A (p.Thr361Asn) rs75467696 0.00357
NM_014874.4(MFN2):c.975C>T (p.Gly325=) rs141475476 0.00357
NM_030665.4(RAI1):c.837G>A (p.Gln279=) rs11078398 0.00357
NM_147127.5(EVC2):c.2601C>T (p.Ala867=) rs116514447 0.00357
NM_000059.4(BRCA2):c.2960A>T (p.Asn987Ile) rs2227944 0.00356
NM_000548.5(TSC2):c.2545+26G>A rs45517242 0.00356
NM_004006.3(DMD):c.3406A>T (p.Thr1136Ser) rs3827462 0.00356
NM_024753.5(TTC21B):c.724G>A (p.Asp242Asn) rs74447004 0.00356
NM_025074.7(FRAS1):c.776T>G (p.Leu259Arg) rs148509395 0.00356
NM_000059.4(BRCA2):c.2786T>C (p.Leu929Ser) rs2227943 0.00355
NM_000392.5(ABCC2):c.1483A>G (p.Lys495Glu) rs17222561 0.00355
NM_001323289.2(CDKL5):c.145+17A>G rs199814742 0.00355
NM_004004.6(GJB2):c.-6T>A rs148136545 0.00355
NM_004453.4(ETFDH):c.381C>T (p.Leu127=) rs149278633 0.00355
NM_201596.3(CACNB2):c.873G>A (p.Leu291=) rs138423466 0.00355
NM_000101.4(CYBA):c.179A>C (p.Lys60Thr) rs11547387 0.00354
NM_000271.5(NPC1):c.2731G>A (p.Gly911Ser) rs34302553 0.00354
NM_000540.3(RYR1):c.4071C>T (p.Pro1357=) rs375709463 0.00354
NM_001164508.2(NEB):c.19056G>T (p.Thr6352=) rs115631125 0.00354
NM_001267550.2(TTN):c.21173G>A (p.Gly7058Asp) rs72648964 0.00354
NM_001379180.1(ESRRB):c.*1474T>C rs188462546 0.00354
NM_003896.4(ST3GAL5):c.37C>T (p.Pro13Ser) rs559756386 0.00354
NM_006005.3(WFS1):c.2327A>T (p.Glu776Val) rs56002719 0.00354
NM_017668.3(NDE1):c.486C>T (p.Leu162=) rs140251634 0.00354
NM_017780.4(CHD7):c.6282A>G (p.Gly2094=) rs41312172 0.00354
NM_133433.4(NIPBL):c.6109-3T>C rs145778995 0.00354
NM_153717.3(EVC):c.1855G>A (p.Val619Ile) rs111293777 0.00354
NM_206933.4(USH2A):c.14543G>A (p.Arg4848Gln) rs77211159 0.00354
NM_001384732.1(CPLANE1):c.9138C>G (p.Pro3046=) rs16903511 0.00353
NM_004260.4(RECQL4):c.543G>A (p.Gln181=) rs34159914 0.00353
NM_004369.4(COL6A3):c.3087C>T (p.Asp1029=) rs113066678 0.00353
NM_007254.4(PNKP):c.783G>A (p.Pro261=) rs145307985 0.00353
NM_014014.5(SNRNP200):c.3654C>T (p.Ser1218=) rs3214060 0.00353
NM_000195.5(HPS1):c.*12C>T rs112544050 0.00352
NM_000271.5(NPC1):c.2882A>G (p.Asn961Ser) rs34084984 0.00352
NM_000330.4(RS1):c.184+3118C>T rs139155110 0.00352
NM_000335.5(SCN5A):c.1381T>G (p.Leu461Val) rs41313697 0.00352
NM_001374353.1(GLI2):c.4612T>C (p.Ser1538Pro) rs144372453 0.00352
NM_001384732.1(CPLANE1):c.8769A>G (p.Thr2923=) rs16903514 0.00352
NM_001845.6(COL4A1):c.3776C>G (p.Pro1259Arg) rs146329532 0.00352
NM_003835.4(RGS9):c.773C>T (p.Ser258Leu) rs12452285 0.00352
NM_005477.3(HCN4):c.2601C>A (p.Ala867=) rs143188160 0.00352
NM_005477.3(HCN4):c.2657C>T (p.Ala886Val) rs200575377 0.00352
NM_198506.5(LRIT3):c.1442C>T (p.Thr481Met) rs116570736 0.00352
NM_000414.4(HSD17B4):c.666C>G (p.Val222=) rs150677536 0.00351
NM_000540.3(RYR1):c.3042G>A (p.Ala1014=) rs2228074 0.00351
NM_001164508.2(NEB):c.22904G>A (p.Gly7635Glu) rs3732309 0.00351
NM_020822.3(KCNT1):c.2376C>T (p.Asp792=) rs149028586 0.00351
NM_000335.5(SCN5A):c.4506C>T (p.Ser1502=) rs45548237 0.00350
NM_000489.6(ATRX):c.4635C>A (p.Thr1545=) rs148975763 0.00350
NM_021939.4(FKBP10):c.504C>T (p.Pro168=) rs113640022 0.00350
NM_000543.5(SMPD1):c.1561C>T (p.Leu521=) rs147258619 0.00349
NM_001130987.2(DYSF):c.2817G>A (p.Ser939=) rs148902254 0.00349
NM_001364905.1(LRBA):c.5030A>G (p.Asn1677Ser) rs17027133 0.00349
NM_001848.3(COL6A1):c.2742C>T (p.Thr914=) rs115163637 0.00349
NM_058216.3(RAD51C):c.376G>A (p.Ala126Thr) rs61758784 0.00349
NM_139058.3(ARX):c.1671G>A (p.Thr557=) rs190910161 0.00349
NM_000455.5(STK11):c.1062C>G (p.Phe354Leu) rs59912467 0.00348
NM_000535.7(PMS2):c.1266G>A (p.Glu422=) rs138049175 0.00348
NM_001134831.2(AHI1):c.517G>A (p.Ala173Thr) rs146416468 0.00348
NM_001164508.2(NEB):c.5102T>C (p.Val1701Ala) rs117271684 0.00348
NM_001851.6(COL9A1):c.1349A>G (p.Glu450Gly) rs77706858 0.00348
NM_000048.4(ASL):c.556C>A (p.Arg186=) rs111407265 0.00347
NM_000430.4(PAFAH1B1):c.1059T>C (p.Ile353=) rs1803915 0.00347
NM_000501.4(ELN):c.892G>A (p.Val298Ile) rs41526244 0.00347
NM_000540.3(RYR1):c.10941C>G (p.His3647Gln) rs114351116 0.00347
NM_001849.4(COL6A2):c.2136C>T (p.Asp712=) rs114554195 0.00347
NM_002206.3(ITGA7):c.2644G>A (p.Glu882Lys) rs144983062 0.00347
NM_002693.3(POLG):c.1126C>T (p.Leu376=) rs116165908 0.00347
NM_005529.7(HSPG2):c.11294G>A (p.Ser3765Asn) rs114223739 0.00347
NM_000057.4(BLM):c.893C>T (p.Thr298Met) rs28384991 0.00346
NM_000059.4(BRCA2):c.6412G>T (p.Val2138Phe) rs11571659 0.00346
NM_001164508.2(NEB):c.3412A>G (p.Asn1138Asp) rs117048449 0.00346
NM_206933.4(USH2A):c.15076A>G (p.Lys5026Glu) rs41308435 0.00346
NM_000156.6(GAMT):c.79T>C (p.Tyr27His) rs200833152 0.00345
NM_000330.4(RS1):c.184+3199G>A rs36022183 0.00345
NM_000666.3(ACY1):c.1178G>A (p.Arg393His) rs121912701 0.00345
NM_025009.5(CEP135):c.2990C>T (p.Ser997Leu) rs146076380 0.00345
NM_080680.3(COL11A2):c.2520G>A (p.Arg840=) rs117237998 0.00345
NM_000261.2(MYOC):c.855G>T (p.Thr285=) rs146606638 0.00344
NM_000426.4(LAMA2):c.8982T>C (p.Asp2994=) rs79374915 0.00344
NM_001377.3(DYNC2H1):c.3012T>C (p.Gly1004=) rs202082545 0.00344
NM_020366.4(RPGRIP1):c.1767G>T (p.Gln589His) rs34067949 0.00344
NM_025074.7(FRAS1):c.5046C>G (p.Asp1682Glu) rs35219594 0.00344
NM_031433.4(MFRP):c.629G>T (p.Gly210Val) rs150902999 0.00344
NM_182943.3(PLOD2):c.652A>G (p.Ile218Val) rs145809663 0.00344
NM_000368.5(TSC1):c.2194C>T (p.His732Tyr) rs118203657 0.00343
NM_001267550.2(TTN):c.75441A>G (p.Lys25147=) rs56151652 0.00343
NM_001849.4(COL6A2):c.510C>T (p.Cys170=) rs142328765 0.00343
NM_206933.4(USH2A):c.15562A>G (p.Ser5188Gly) rs58257972 0.00343
NM_000053.4(ATP7B):c.1607T>C (p.Val536Ala) rs138427376 0.00342
NM_000142.5(FGFR3):c.1150T>C (p.Phe384Leu) rs17881656 0.00342
NM_000271.5(NPC1):c.2795+19T>C rs200103695 0.00342
NM_001130987.2(DYSF):c.1145C>T (p.Ala382Val) rs115279465 0.00342
NM_178452.6(DNAAF1):c.1227T>G (p.Gly409=) rs148674729 0.00342
NM_001849.4(COL6A2):c.1116+22C>T rs111592472 0.00341
NM_017617.5(NOTCH1):c.5073G>A (p.Gln1691=) rs61751538 0.00341
NM_022356.4(P3H1):c.1322A>G (p.Asp441Gly) rs113593896 0.00341
NM_147127.5(EVC2):c.2029C>A (p.Arg677=) rs73198165 0.00341
NM_194248.3(OTOF):c.2215-77T>G rs76130130 0.00341
NM_000180.4(GUCY2D):c.1371C>T (p.Cys457=) rs55916957 0.00340
NM_000252.3(MTM1):c.64-14T>C rs184956219 0.00340
NM_012254.3(SLC27A5):c.641C>T (p.Ala214Val) rs113904799 0.00340
NM_138694.4(PKHD1):c.8581A>G (p.Ser2861Gly) rs150925674 0.00340
NM_000243.3(MEFV):c.333G>A (p.Gly111=) rs61732425 0.00339
NM_000426.4(LAMA2):c.6150T>C (p.Asp2050=) rs114766691 0.00339
NM_002241.5(KCNJ10):c.1092A>G (p.Gln364=) rs145588542 0.00339
NM_004369.4(COL6A3):c.8346G>A (p.Glu2782=) rs35911211 0.00339
NM_021101.5(CLDN1):c.15G>A (p.Gly5=) rs78025997 0.00339
NM_024757.5(EHMT1):c.1743C>T (p.Arg581=) rs144513373 0.00339
NM_001611.5(ACP5):c.814C>T (p.Arg272Cys) rs147025508 0.00338
NM_016492.5(RANGRF):c.268T>C (p.Leu90=) rs138959557 0.00338
NM_022095.4(ZNF335):c.3488-6G>A rs201983124 0.00338
NM_001378120.1(MBD5):c.1638C>T (p.Ala546=) rs116413446 0.00337
NM_020754.4(ARHGAP31):c.820C>T (p.Pro274Ser) rs139600783 0.00337
NM_031935.3(HMCN1):c.114G>T (p.Gly38=) rs115169621 0.00337
NM_000260.4(MYO7A):c.1605C>T (p.Asn535=) rs111033228 0.00336
NM_001130987.2(DYSF):c.2334C>T (p.Leu778=) rs116204385 0.00336
NM_004586.3(RPS6KA3):c.213A>G (p.Leu71=) rs56338023 0.00336
NM_153676.4(USH1C):c.2611G>A (p.Ala871Thr) rs56165709 0.00336
NM_000059.4(BRCA2):c.1275A>G (p.Glu425=) rs34355306 0.00335
NM_021116.4(ADCY1):c.2327+6T>A rs75860455 0.00335
NM_175875.5(SIX5):c.732G>A (p.Gln244=) rs141944211 0.00335
NM_001101.5(ACTB):c.-6-4G>T rs13447394 0.00334
NM_001199107.2(TBC1D24):c.1500G>A (p.Ala500=) rs201059992 0.00334
NM_001267550.2(TTN):c.10114+5G>A rs115985443 0.00334
NM_001369.3(DNAH5):c.8757G>C (p.Glu2919Asp) rs115776799 0.00334
NM_014008.5(CCDC22):c.536-7C>T rs191605685 0.00334
NM_024596.5(MCPH1):c.989A>G (p.Tyr330Cys) rs115088000 0.00334
NM_203288.2(RP9):c.459G>A (p.Lys153=) rs145025032 0.00334
NM_001035.3(RYR2):c.13740G>A (p.Thr4580=) rs115854664 0.00333
NM_001164508.2(NEB):c.3636C>T (p.Asp1212=) rs144376972 0.00333
NM_013382.7(POMT2):c.1262G>A (p.Arg421Gln) rs151078549 0.00333
NM_018136.5(ASPM):c.6775T>C (p.Leu2259=) rs140922974 0.00333
NM_001077365.2(POMT1):c.1585-14C>T rs78529026 0.00332
NM_001267550.2(TTN):c.14698G>A (p.Ala4900Thr) rs72648923 0.00332
NM_006412.4(AGPAT2):c.716C>T (p.Ala239Val) rs145975461 0.00332
NM_020686.6(ABAT):c.816+7C>A rs376046736 0.00332
NM_000088.4(COL1A1):c.613C>G (p.Pro205Ala) rs72667032 0.00331
NM_000245.4(MET):c.-14-4G>A rs144126521 0.00331
NM_152564.5(VPS13B):c.2275G>C (p.Val759Leu) rs140848350 0.00331
NM_000748.3(CHRNB2):c.1233G>A (p.Ala411=) rs55857552 0.00330
NM_014141.6(CNTNAP2):c.2892G>A (p.Ser964=) rs148104020 0.00330
NM_015102.5(NPHP4):c.2914A>G (p.Ser972Gly) rs187947581 0.00330
NM_024301.5(FKRP):c.1020C>T (p.Tyr340=) rs77351928 0.00330
NM_201384.3(PLEC):c.7880C>G (p.Pro2627Arg) rs184879368 0.00330
NM_000493.4(COL10A1):c.23T>G (p.Leu8Trp) rs34539681 0.00329
NM_000514.4(GDNF):c.540A>G (p.Arg180=) rs112417561 0.00329
NM_000900.5(MGP):c.157A>G (p.Lys53Glu) rs1801716 0.00329
NM_001127222.2(CACNA1A):c.2130C>G (p.Ala710=) rs16017 0.00329
NM_001966.4(EHHADH):c.1805G>A (p.Arg602Gln) rs35200935 0.00329
NM_004006.3(DMD):c.3276+17A>T rs184220727 0.00329
NM_025114.4(CEP290):c.5322C>T (p.Leu1774=) rs117370446 0.00329
NM_054027.6(ANKH):c.560G>A (p.Arg187Gln) rs146886108 0.00329
NM_172107.4(KCNQ2):c.1719C>T (p.Ala573=) rs61737409 0.00329
NM_201384.3(PLEC):c.8445T>C (p.Val2815=) rs371421350 0.00329
NM_000142.5(FGFR3):c.1014C>T (p.Thr338=) rs4647928 0.00328
NM_001374385.1(ATP8B1):c.2442G>T (p.Lys814Asn) rs34018300 0.00328
NM_002396.5(ME2):c.1404T>A (p.Val468=) rs142847061 0.00328
NM_014014.5(SNRNP200):c.4165G>A (p.Val1389Ile) rs143898031 0.00328
NM_022350.5(ERAP2):c.1232T>G (p.Leu411Arg) rs34261036 0.00328
NM_001127898.4(CLCN5):c.1257C>T (p.Thr419=) rs144901347 0.00327
NM_004281.4(BAG3):c.1138C>T (p.Pro380Ser) rs144692954 0.00327
NM_004817.4(TJP2):c.2992-8C>T rs143965233 0.00327
NM_206933.4(USH2A):c.15297+3A>G rs57754754 0.00327
NM_001267550.2(TTN):c.9150A>G (p.Thr3050=) rs72647886 0.00326
NM_201384.3(PLEC):c.10759C>T (p.Leu3587=) rs200006106 0.00326
NM_201384.3(PLEC):c.5476C>T (p.Arg1826Trp) rs200575795 0.00326
NM_000540.3(RYR1):c.8827G>A (p.Asp2943Asn) rs79294840 0.00325
NM_001032221.6(STXBP1):c.247-8A>G rs199827018 0.00325
NM_001374353.1(GLI2):c.2037A>G (p.Ala679=) rs146059306 0.00325
NM_001384140.1(PCDH15):c.2435T>C (p.Ile812Thr) rs61731363 0.00325
NM_020822.3(KCNT1):c.1533G>A (p.Glu511=) rs151080601 0.00325
NM_207361.6(FREM2):c.8460C>G (p.Ala2820=) rs138775857 0.00325
NM_000153.4(GALC):c.96G>T (p.Leu32=) rs113719127 0.00324
NM_001077365.2(POMT1):c.1698C>T (p.Ser566=) rs150814269 0.00324
NM_001134363.3(RBM20):c.2318A>G (p.Lys773Arg) rs181769913 0.00324
NM_001164508.2(NEB):c.1675-9T>G rs75118047 0.00324
NM_001199107.2(TBC1D24):c.1326C>T (p.Tyr442=) rs184639841 0.00324
NM_004565.3(PEX14):c.349G>T (p.Ala117Ser) rs12061667 0.00324
NM_024884.3(L2HGDH):c.6G>T (p.Val2=) rs113626637 0.00324
NM_000702.4(ATP1A2):c.1125G>A (p.Lys375=) rs61734526 0.00323
NM_001017420.3(ESCO2):c.1076A>C (p.Gln359Pro) rs57479434 0.00323
NM_001048166.1(STIL):c.1055G>A (p.Arg352His) rs141678367 0.00323
NM_001130969.3(NSMF):c.1467C>T (p.Phe489=) rs139341268 0.00323
NM_001330078.2(NRXN1):c.1285C>T (p.Pro429Ser) rs78540316 0.00323
NM_001165963.4(SCN1A):c.1131A>C (p.Arg377=) rs114137271 0.00322
NM_001267550.2(TTN):c.70832C>T (p.Ala23611Val) rs72646891 0.00322
NM_001457.4(FLNB):c.3264C>T (p.Ser1088=) rs112864468 0.00322
NM_003839.4(TNFRSF11A):c.570C>T (p.Ser190=) rs12721430 0.00322
NM_004817.4(TJP2):c.644G>A (p.Arg215His) rs201977617 0.00322
NM_006017.3(PROM1):c.1497C>T (p.Ile499=) rs113895168 0.00322
NM_007317.3(KIF22):c.98T>C (p.Ile33Thr) rs113256823 0.00322
NM_212550.5(BLOC1S3):c.609G>A (p.Ter203=) rs142688123 0.00322
NM_000243.3(MEFV):c.1759+8C>T rs77380520 0.00321
NM_001017420.3(ESCO2):c.1647T>C (p.Ile549=) rs73568217 0.00321
NM_001165963.4(SCN1A):c.2889T>C (p.Ala963=) rs144679294 0.00321
NM_001369268.1(ACAN):c.186C>T (p.Thr62=) rs191648646 0.00321
NM_201384.3(PLEC):c.7267G>A (p.Ala2423Thr) rs193257576 0.00321
NM_000168.6(GLI3):c.1393G>C (p.Gly465Arg) rs35488756 0.00320
NM_001365951.3(KIF1B):c.2115+7031T>C rs149267056 0.00320
NM_004380.3(CREBBP):c.333C>T (p.Asn111=) rs150229705 0.00320
NM_001128205.2(SULF1):c.1483C>G (p.Arg495Gly) rs142971465 0.00319
NM_005045.4(RELN):c.565C>T (p.His189Tyr) rs115806540 0.00319
NM_024596.5(MCPH1):c.1781C>T (p.Thr594Met) rs115033462 0.00319
NM_182914.3(SYNE2):c.11379T>C (p.Leu3793=) rs149391344 0.00319
NM_000310.4(PPT1):c.363-4G>A rs117284255 0.00318
NM_001384140.1(PCDH15):c.1039C>T (p.Leu347Phe) rs111033436 0.00318
NM_004333.6(BRAF):c.1227A>G (p.Ser409=) rs145035762 0.00318
NM_006514.4(SCN10A):c.5657C>T (p.Ala1886Val) rs142653846 0.00318
NM_001267550.2(TTN):c.26466C>G (p.Ala8822=) rs140003804 0.00317
NM_001267550.2(TTN):c.32743G>C (p.Ala10915Pro) rs72650032 0.00317
NM_001267550.2(TTN):c.73825G>C (p.Glu24609Gln) rs55762754 0.00317
NM_004281.4(BAG3):c.181-9T>A rs139232658 0.00317
NM_015311.3(OBSL1):c.3159C>T (p.Pro1053=) rs115417324 0.00317
NM_017534.6(MYH2):c.2295G>A (p.Gly765=) rs79757188 0.00317
NM_203486.3(DLL3):c.1307G>A (p.Arg436His) rs199831437 0.00317
NM_001267550.2(TTN):c.87808G>A (p.Val29270Ile) rs141624266 0.00316
NM_002968.3(SALL1):c.472A>G (p.Ser158Gly) rs139646526 0.00316
NM_004369.4(COL6A3):c.7162+48G>A rs112563876 0.00316
NM_032119.4(ADGRV1):c.18273A>G (p.Ala6091=) rs137853918 0.00316
NM_000117.3(EMD):c.144C>T (p.Leu48=) rs200537612 0.00315
NM_000843.4(GRM6):c.1779C>T (p.Ala593=) rs75667861 0.00315
NM_001365536.1(SCN9A):c.5779C>T (p.Leu1927Phe) rs111558968 0.00315
NM_001849.4(COL6A2):c.2351G>A (p.Arg784His) rs75120695 0.00315
NM_001851.6(COL9A1):c.1288-4T>A rs142431834 0.00315
NM_003482.4(KMT2D):c.6180C>T (p.Tyr2060=) rs186577948 0.00315
NM_004385.5(VCAN):c.4604A>G (p.Glu1535Gly) rs61749614 0.00315
NM_020533.3(MCOLN1):c.782C>T (p.Thr261Met) rs73003348 0.00315
NM_024884.3(L2HGDH):c.1100A>G (p.Tyr367Cys) rs115954396 0.00315
NM_172364.5(CACNA2D4):c.3310-8G>A rs186998620 0.00315
NM_000138.5(FBN1):c.8283A>T (p.Thr2761=) rs146120912 0.00314
NM_004393.6(DAG1):c.258G>C (p.Leu86Phe) rs145403829 0.00314
NM_006662.3(SRCAP):c.2589G>A (p.Lys863=) rs151062043 0.00314
NM_017617.5(NOTCH1):c.2769A>G (p.Thr923=) rs201985795 0.00314
NM_181426.2(CCDC39):c.1433A>G (p.Gln478Arg) rs115545935 0.00314
NM_182961.4(SYNE1):c.2882G>A (p.Arg961Gln) rs76646638 0.00314
NM_000109.4(DMD):c.7+127140A>T rs181626656 0.00313
NM_000251.3(MSH2):c.339G>A (p.Lys113=) rs35898375 0.00313
NM_001110556.2(FLNA):c.1582G>A (p.Val528Met) rs143873938 0.00313
NM_001848.3(COL6A1):c.1518T>C (p.Gly506=) rs35134265 0.00313
NM_002979.5(SCP2):c.675-6T>C rs115815213 0.00313
NM_004260.4(RECQL4):c.3337G>C (p.Gly1113Arg) rs35101495 0.00313
NM_005529.7(HSPG2):c.10498G>A (p.Val3500Met) rs143543800 0.00313
NM_014956.5(CEP164):c.1639G>A (p.Glu547Lys) rs116343381 0.00313
NM_031220.4(PITPNM3):c.432C>T (p.Ala144=) rs149039090 0.00313
NM_130839.5(UBE3A):c.2618A>G (p.Ter873=) rs76794400 0.00313
NM_138694.4(PKHD1):c.2715+7del rs551015414 0.00313
NM_000093.5(COL5A1):c.573C>T (p.Leu191=) rs116715381 0.00312
NM_000297.4(PKD2):c.2420G>A (p.Arg807Gln) rs147654263 0.00312
NM_001042432.2(CLN3):c.313A>G (p.Ile105Val) rs11552531 0.00312
NM_152564.5(VPS13B):c.11071G>A (p.Ala3691Thr) rs142476821 0.00312
NM_001114753.3(ENG):c.1510G>A (p.Val504Met) rs116330805 0.00311
NM_003383.5(VLDLR):c.464G>C (p.Ser155Thr) rs34080096 0.00311
NM_006790.3(MYOT):c.1190+7T>C rs192405601 0.00311
NM_000036.3(AMPD1):c.99A>G (p.Gly33=) rs61752480 0.00310
NM_000553.6(WRN):c.95A>G (p.Lys32Arg) rs34477820 0.00310
NM_001032221.6(STXBP1):c.325+8C>T rs117372398 0.00310
NM_001267550.2(TTN):c.30231A>G (p.Pro10077=) rs74324101 0.00310
NM_001277313.2(FMN1):c.2697T>C (p.Ala899=) rs377621176 0.00310
NM_001378454.1(ALMS1):c.10751A>T (p.Gln3584Leu) rs144486524 0.00310
NM_001848.3(COL6A1):c.1182+3G>A rs62215499 0.00310
NM_004560.4(ROR2):c.937+10C>T rs201083970 0.00310
NM_020975.6(RET):c.166C>A (p.Leu56Met) rs145633958 0.00310
NM_000440.3(PDE6A):c.878C>T (p.Pro293Leu) rs114973968 0.00309
NM_002471.4(MYH6):c.1071C>T (p.Ile357=) rs58131640 0.00309
NM_017950.4(CCDC40):c.3408C>T (p.Leu1136=) rs186591691 0.00309
NM_153717.3(EVC):c.1127C>T (p.Ala376Val) rs142535134 0.00309
NM_182914.3(SYNE2):c.20117G>A (p.Arg6706Gln) rs35831865 0.00309
NM_000038.6(APC):c.3471G>A (p.Glu1157=) rs143927847 0.00308
NM_000350.3(ABCA4):c.6148G>C (p.Val2050Leu) rs41292677 0.00308
NM_001110792.2(MECP2):c.1225G>A (p.Glu409Lys) rs56268439 0.00308
NM_001267550.2(TTN):c.32750C>T (p.Pro10917Leu) rs73973137 0.00308
NM_205861.3(DHDDS):c.324-10C>T rs144459149 0.00308
NM_000059.4(BRCA2):c.3869G>A (p.Cys1290Tyr) rs41293485 0.00307
NM_001134831.2(AHI1):c.1791C>T (p.Ile597=) rs150425546 0.00307
NM_002334.4(LRP4):c.1551T>C (p.Ala517=) rs150777198 0.00307
NM_004006.3(DMD):c.802T>C (p.Leu268=) rs1800264 0.00307
NM_004260.4(RECQL4):c.2377C>T (p.Pro793Ser) rs35098923 0.00307
NM_004380.3(CREBBP):c.2941G>A (p.Ala981Thr) rs61753380 0.00307
NM_005562.3(LAMC2):c.880C>T (p.Leu294=) rs144572936 0.00307
NM_019032.6(ADAMTSL4):c.2969C>T (p.Thr990Met) rs139784416 0.00307
NM_000393.5(COL5A2):c.198T>C (p.Asn66=) rs76511879 0.00306
NM_000426.4(LAMA2):c.4935C>A (p.Thr1645=) rs35579821 0.00306
NM_001127671.2(LIFR):c.2498-7G>A rs113078097 0.00306
NM_001177316.2(SLC34A3):c.1512C>T (p.Phe504=) rs146854507 0.00306
NM_001199107.2(TBC1D24):c.1196C>T (p.Thr399Met) rs61731477 0.00306
NM_004369.4(COL6A3):c.3191G>A (p.Arg1064Gln) rs112638391 0.00306
NM_022081.6(HPS4):c.250A>G (p.Ile84Val) rs149830675 0.00306
NM_207352.4(CYP4V2):c.1328G>A (p.Arg443Gln) rs72646291 0.00306
NM_000751.3(CHRND):c.1105C>T (p.Pro369Ser) rs2229194 0.00305
NM_001384140.1(PCDH15):c.3717+8G>C rs200556301 0.00305
NM_025114.4(CEP290):c.6960+10G>A rs75011402 0.00305
NM_001365536.1(SCN9A):c.3361C>T (p.Arg1121Trp) rs190664764 0.00304
NM_005529.7(HSPG2):c.3336C>T (p.Pro1112=) rs2228348 0.00304
NM_006343.3(MERTK):c.2851G>A (p.Ala951Thr) rs148261231 0.00304
NM_152564.5(VPS13B):c.7678G>A (p.Glu2560Lys) rs111751379 0.00304
NM_000057.4(BLM):c.2160C>T (p.Ile720=) rs28385028 0.00303
NM_000397.4(CYBB):c.654C>A (p.Gly218=) rs35080474 0.00303
NM_005559.4(LAMA1):c.9067+4T>C rs8091658 0.00303
NM_015295.3(SMCHD1):c.4808C>T (p.Thr1603Ile) rs147034750 0.00303
NM_000035.4(ALDOB):c.156T>G (p.Thr52=) rs149671008 0.00302
NM_000235.4(LIPA):c.1113A>G (p.Glu371=) rs116827211 0.00302
NM_001371596.2(MFSD8):c.1041A>G (p.Val347=) rs148291156 0.00302
NM_001918.5(DBT):c.76T>C (p.Cys26Arg) rs145674833 0.00302
NM_004385.5(VCAN):c.5187G>A (p.Glu1729=) rs35648048 0.00302
NM_024596.5(MCPH1):c.1495G>A (p.Val499Met) rs146586991 0.00302
NM_030777.4(SLC2A10):c.674G>A (p.Arg225His) rs34295241 0.00302
NM_153026.3(PRICKLE1):c.114G>A (p.Pro38=) rs141743294 0.00302
NM_000276.4(OCRL):c.897G>A (p.Met299Ile) rs138260625 0.00301
NM_001267550.2(TTN):c.30426C>T (p.Asp10142=) rs147524531 0.00301
NM_005591.4(MRE11):c.771A>G (p.Glu257=) rs13447632 0.00301
NM_007294.4(BRCA1):c.557C>A (p.Ser186Tyr) rs55688530 0.00301
NM_172364.5(CACNA2D4):c.2187C>T (p.Asp729=) rs78335326 0.00301
NM_000515.5(GH1):c.363T>A (p.Ser121Arg) rs137882374 0.00300
NM_000751.3(CHRND):c.117C>G (p.Asn39Lys) rs77084550 0.00300
NM_001039213.4(CEACAM16):c.738G>A (p.Thr246=) rs199779296 0.00300
NM_005045.4(RELN):c.5923G>A (p.Gly1975Ser) rs114807343 0.00300
NM_000217.3(KCNA1):c.1296C>G (p.Ser432=) rs76066681 0.00299
NM_001277115.2(DNAH11):c.9468T>C (p.Asp3156=) rs201207627 0.00299
NM_001848.3(COL6A1):c.2067-10T>C rs200727020 0.00299
NM_001849.4(COL6A2):c.499G>A (p.Gly167Ser) rs115957676 0.00299
NM_006208.3(ENPP1):c.2657G>C (p.Arg886Thr) rs8192683 0.00299
NM_014908.4(DOLK):c.186G>A (p.Arg62=) rs148171062 0.00299
NM_020361.5(CPA6):c.975A>G (p.Ala325=) rs138313759 0.00299
NM_032119.4(ADGRV1):c.6095C>T (p.Ala2032Val) rs142013761 0.00299
NM_032119.4(ADGRV1):c.8133C>T (p.Ser2711=) rs116446814 0.00299
NM_000141.5(FGFR2):c.1572A>G (p.Thr524=) rs74160613 0.00298
NM_000144.5(FXN):c.626A>G (p.Asp209Gly) rs74621026 0.00298
NM_000426.4(LAMA2):c.675C>T (p.Ala225=) rs139665175 0.00298
NM_000709.4(BCKDHA):c.484+5G>A rs149899007 0.00298
NM_003611.3(OFD1):c.1923G>A (p.Glu641=) rs145300245 0.00298
NM_000195.5(HPS1):c.1683C>T (p.Cys561=) rs112337765 0.00297
NM_000249.4(MLH1):c.1963A>G (p.Ile655Val) rs55907433 0.00297
NM_000548.5(TSC2):c.228C>T (p.His76=) rs45517097 0.00297
NM_001458.5(FLNC):c.1425C>T (p.Asn475=) rs143610360 0.00297
NM_001458.5(FLNC):c.2078A>C (p.Asp693Ala) rs34972246 0.00297
NM_002900.3(RBP3):c.1631G>A (p.Arg544His) rs41284962 0.00297
NM_003193.5(TBCE):c.214C>T (p.Pro72Ser) rs62620041 0.00297
NM_003482.4(KMT2D):c.13644C>T (p.Ser4548=) rs201119371 0.00297
NM_003742.4(ABCB11):c.616A>G (p.Ile206Val) rs11568357 0.00297
NM_006996.3(SLC19A2):c.1080T>C (p.Thr360=) rs3737682 0.00297
NM_014714.4(IFT140):c.1541T>A (p.Leu514His) rs150903791 0.00297
NM_014714.4(IFT140):c.1542C>A (p.Leu514=) rs141542834 0.00297
NM_020066.5(FMN2):c.1352T>A (p.Leu451Gln) rs145379416 0.00297
NM_024577.4(SH3TC2):c.238G>A (p.Ala80Thr) rs112507765 0.00297
NM_133497.4(KCNV2):c.144G>A (p.Glu48=) rs79889344 0.00297
NM_194248.3(OTOF):c.3734-10A>C rs73920284 0.00297
NM_001184880.2(PCDH19):c.*8T>C rs145987305 0.00296
NM_001324144.2(ZNF41):c.590A>G (p.Lys197Arg) rs148585367 0.00296
NM_001353214.3(DYM):c.500T>A (p.Ile167Asn) rs75854087 0.00296
NM_001360.3(DHCR7):c.1341C>T (p.Asp447=) rs139721775 0.00296
NM_001378454.1(ALMS1):c.9886A>G (p.Thr3296Ala) rs58806616 0.00296
NM_001848.3(COL6A1):c.1612-6C>T rs143812383 0.00296
NM_020549.5(CHAT):c.1135G>C (p.Asp379His) rs115212829 0.00296
NM_033641.4(COL4A6):c.528T>G (p.Pro176=) rs12390371 0.00296
NM_000059.4(BRCA2):c.4068G>A (p.Leu1356=) rs28897724 0.00295
NM_000166.6(GJB1):c.704T>G (p.Phe235Cys) rs104894825 0.00295
NM_000492.4(CFTR):c.4242+13A>G rs76179227 0.00295
NM_001110556.2(FLNA):c.4233G>A (p.Ser1411=) rs34439033 0.00295
NM_001267550.2(TTN):c.2765G>A (p.Arg922His) rs56046320 0.00295
NM_002206.3(ITGA7):c.2701A>G (p.Ile901Val) rs113651939 0.00295
NM_003482.4(KMT2D):c.2074C>A (p.Pro692Thr) rs202076833 0.00295
NM_005477.3(HCN4):c.1371+8C>T rs199838832 0.00295
NM_000392.5(ABCC2):c.4509-9T>C rs180717330 0.00294
NM_001844.5(COL2A1):c.1433C>T (p.Pro478Leu) rs201823490 0.00294
NM_001852.4(COL9A2):c.95G>A (p.Arg32Gln) rs200424850 0.00294
NM_003482.4(KMT2D):c.12867C>T (p.Leu4289=) rs202082835 0.00294
NM_014491.4(FOXP2):c.1468+9T>C rs75753538 0.00294
NM_014762.4(DHCR24):c.81C>T (p.Leu27=) rs140995590 0.00294
NM_020754.4(ARHGAP31):c.654C>T (p.Asn218=) rs145326425 0.00294
NM_022356.4(P3H1):c.1473+5G>T rs114044880 0.00294
NM_000238.4(KCNH2):c.3152+12C>A rs72549420 0.00293
NM_001142800.2(EYS):c.2500G>A (p.Val834Ile) rs112464110 0.00293
NM_001267550.2(TTN):c.23301C>T (p.Ser7767=) rs73038337 0.00293
NM_001384474.1(LOXHD1):c.2264G>T (p.Gly755Val) rs188517529 0.00293
NM_004187.5(KDM5C):c.1764G>A (p.Gln588=) rs61733871 0.00293
NM_004482.4(GALNT3):c.132A>G (p.Gln44=) rs149809222 0.00293
NM_005529.7(HSPG2):c.4877G>A (p.Arg1626His) rs41311989 0.00293
NM_005591.4(MRE11):c.121G>A (p.Asp41Asn) rs116679717 0.00293
NM_005732.4(RAD50):c.3879C>T (p.Ile1293=) rs28903094 0.00293
NM_012208.4(HARS2):c.1105G>C (p.Gly369Arg) rs61736946 0.00293
NM_000059.4(BRCA2):c.4681C>A (p.His1561Asn) rs2219594 0.00292
NM_000142.5(FGFR3):c.393G>A (p.Ser131=) rs55662109 0.00292
NM_000152.5(GAA):c.917C>T (p.Ser306Leu) rs138097673 0.00292
NM_000271.5(NPC1):c.3477+4A>G rs114073738 0.00292
NM_001164508.2(NEB):c.7514C>A (p.Ala2505Glu) rs35292878 0.00292
NM_006182.4(DDR2):c.1513G>A (p.Gly505Ser) rs115169993 0.00292
NM_000540.3(RYR1):c.8360C>G (p.Thr2787Ser) rs35180584 0.00291
NM_001110792.2(MECP2):c.719C>G (p.Thr240Ser) rs61749738 0.00291
NM_001256317.3(TMPRSS3):c.1119C>T (p.Asp373=) rs113747896 0.00291
NM_001378414.1(HDAC4):c.1095+10C>G rs11896634 0.00291
NM_005529.7(HSPG2):c.9514-3C>T rs114851424 0.00291
NM_006579.3(EBP):c.382C>T (p.Leu128=) rs142881014 0.00291
NM_015346.4(ZFYVE26):c.5121A>C (p.Gly1707=) rs143981992 0.00291
NM_178170.3(NEK8):c.2052G>A (p.Ser684=) rs145898152 0.00291
NM_000059.4(BRCA2):c.7805+6C>G rs81002819 0.00290
NM_000155.4(GALT):c.510C>A (p.Ile170=) rs61735984 0.00290
NM_000325.6(PITX2):c.63C>T (p.Ala21=) rs61756183 0.00290
NM_001267550.2(TTN):c.69716-5C>G rs72646886 0.00290
NM_001378120.1(MBD5):c.3942T>A (p.Gly1314=) rs115816749 0.00290
NM_001386140.1(MTTP):c.1731C>T (p.Ala577=) rs112506924 0.00290
NM_002691.4(POLD1):c.1977C>T (p.Ile659=) rs45605236 0.00290
NM_006662.3(SRCAP):c.3388C>T (p.Pro1130Ser) rs143519723 0.00290
NM_007254.4(PNKP):c.939T>C (p.Phe313=) rs149731642 0.00290
NM_017780.4(CHD7):c.856A>G (p.Arg286Gly) rs61995713 0.00290
NM_153676.4(USH1C):c.381G>T (p.Gly127=) rs41282942 0.00290
NM_182961.4(SYNE1):c.11541G>A (p.Met3847Ile) rs74463786 0.00290
NM_002335.4(LRP5):c.16C>A (p.Pro6Thr) rs771718186 0.00289
NM_000059.4(BRCA2):c.5640T>G (p.Asn1880Lys) rs11571657 0.00288
NM_000093.5(COL5A1):c.240C>T (p.Asp80=) rs79724538 0.00288
NM_000548.5(TSC2):c.4536C>T (p.Asp1512=) rs35986575 0.00288
NM_004612.4(TGFBR1):c.1125A>C (p.Thr375=) rs7861780 0.00288
NM_007078.3(LDB3):c.2016C>T (p.Cys672=) rs45578640 0.00288
NM_022436.3(ABCG5):c.1763-7T>G rs114780578 0.00288
NM_001267550.2(TTN):c.7061G>A (p.Arg2354His) rs75031300 0.00287
NM_002609.4(PDGFRB):c.946G>A (p.Val316Met) rs41287112 0.00287
NM_004187.5(KDM5C):c.3540G>A (p.Thr1180=) rs76525703 0.00287
NM_004260.4(RECQL4):c.3058G>A (p.Val1020Met) rs114149451 0.00287
NM_004380.3(CREBBP):c.2572C>T (p.Pro858Ser) rs145733598 0.00287
NM_005045.4(RELN):c.906C>T (p.Ala302=) rs114494558 0.00287
NM_005445.4(SMC3):c.255A>G (p.Ser85=) rs146433240 0.00287
NM_138694.4(PKHD1):c.9866G>T (p.Ser3289Ile) rs148932323 0.00287
NM_201548.5(CERKL):c.66C>G (p.Pro22=) rs199762900 0.00287
NM_000503.6(EYA1):c.840C>A (p.Ile280=) rs55972891 0.00286
NM_001164508.2(NEB):c.18861C>T (p.Arg6287=) rs146294986 0.00286
NM_001458.5(FLNC):c.4928-7T>C rs201957008 0.00286
NM_016356.5(DCDC2):c.1044C>T (p.Asp348=) rs143313706 0.00286
NM_001161352.2(KCNMA1):c.2565C>T (p.Ile855=) rs2229009 0.00285
NM_001235.5(SERPINH1):c.744C>T (p.Asp248=) rs61733248 0.00285
NM_001278116.2(L1CAM):c.3081G>A (p.Ala1027=) rs139393266 0.00285
NM_001374353.1(GLI2):c.2967C>T (p.Gly989=) rs373880077 0.00285
NM_003923.3(FOXH1):c.783T>C (p.Pro261=) rs151147114 0.00285
NM_004260.4(RECQL4):c.1954G>A (p.Val652Met) rs61754061 0.00285
NM_022124.6(CDH23):c.4045C>T (p.Arg1349Cys) rs41281318 0.00285
NM_024649.5(BBS1):c.831-5C>T rs56177555 0.00285
NM_001079802.2(FKTN):c.1045-40C>A rs145883833 0.00284
NM_019066.5(MAGEL2):c.2784C>T (p.Ile928=) rs189752384 0.00284
NM_182961.4(SYNE1):c.12170C>T (p.Pro4057Leu) rs150179494 0.00284
NM_000271.5(NPC1):c.1532C>T (p.Thr511Met) rs13381670 0.00283
NM_001008216.2(GALE):c.772C>T (p.Leu258=) rs147618796 0.00283
NM_001008216.2(GALE):c.873+20C>T rs141022680 0.00283
NM_001035.3(RYR2):c.1218G>A (p.Ser406=) rs147389346 0.00283
NM_001458.5(FLNC):c.3006G>A (p.Arg1002=) rs61737781 0.00283
NM_003482.4(KMT2D):c.4020+13C>G rs184377216 0.00283
NM_003919.3(SGCE):c.769A>C (p.Thr257Pro) rs116105264 0.00283
NM_005045.4(RELN):c.416C>G (p.Thr139Ser) rs79471015 0.00283
NM_006269.2(RP1):c.382C>A (p.Leu128Ile) rs147116231 0.00283
NM_015102.5(NPHP4):c.3036C>T (p.Pro1012=) rs34265978 0.00283
NM_020800.3(IFT80):c.1076+9C>G rs139408398 0.00283
NM_182961.4(SYNE1):c.2995G>A (p.Glu999Lys) rs148346599 0.00283
NM_000271.5(NPC1):c.1071G>A (p.Ser357=) rs61731964 0.00282
NM_000543.5(SMPD1):c.1460C>T (p.Ala487Val) rs141641266 0.00282
NM_001035.3(RYR2):c.3849A>G (p.Leu1283=) rs143603583 0.00282
NM_001364905.1(LRBA):c.3568A>G (p.Met1190Val) rs138173151 0.00282
NM_001429.4(EP300):c.2064A>G (p.Leu688=) rs61756763 0.00282
NM_025193.4(HSD3B7):c.103C>G (p.Arg35Gly) rs150464212 0.00282
NM_000088.4(COL1A1):c.4179C>T (p.Ser1393=) rs1800219 0.00281
NM_014795.4(ZEB2):c.2141C>T (p.Pro714Leu) rs112581563 0.00281
NM_000018.4(ACADVL):c.1066A>G (p.Ile356Val) rs150140386 0.00280
NM_000217.3(KCNA1):c.237G>A (p.Glu79=) rs149110871 0.00280
NM_000297.4(PKD2):c.2411G>A (p.Ser804Asn) rs145343957 0.00280
NM_001203.3(BMPR1B):c.418G>A (p.Val140Ile) rs138801821 0.00280
NM_005633.4(SOS1):c.2122G>A (p.Ala708Thr) rs140811086 0.00280
NM_015340.4(LARS2):c.2307C>T (p.Ser769=) rs143838895 0.00280
NM_016203.4(PRKAG2):c.1296G>A (p.Thr432=) rs114079815 0.00280
NM_017739.4(POMGNT1):c.1298C>T (p.Thr433Met) rs146097254 0.00280
NM_133433.4(NIPBL):c.3897T>C (p.Leu1299=) rs80358354 0.00280
NM_000426.4(LAMA2):c.5633C>T (p.Ser1878Phe) rs139586720 0.00279
NM_004006.3(DMD):c.4529A>G (p.Lys1510Arg) rs72468638 0.00279
NM_004304.5(ALK):c.3837-9_3837-7dup rs373764155 0.00279
NM_004541.4(NDUFA1):c.-4A>G rs201240353 0.00279
NM_006005.3(WFS1):c.353A>C (p.Asp118Ala) rs71524349 0.00279
NM_006383.4(CIB2):c.448G>A (p.Asp150Asn) rs141932061 0.00279
NM_001844.5(COL2A1):c.2334C>T (p.Ala778=) rs35504014 0.00278
NM_001844.5(COL2A1):c.2574C>T (p.Gly858=) rs141423593 0.00278
NM_002181.4(IHH):c.315+8C>T rs186249490 0.00278
NM_006922.4(SCN3A):c.171T>C (p.Ala57=) rs111389453 0.00278
NM_018136.5(ASPM):c.9444+8T>G rs140150599 0.00278
NM_153704.6(TMEM67):c.2161C>T (p.Pro721Ser) rs116445698 0.00278
NM_000257.4(MYH7):c.4788G>A (p.Ser1596=) rs146858930 0.00277
NM_000843.4(GRM6):c.1875C>T (p.Tyr625=) rs62638215 0.00277
NM_001017420.3(ESCO2):c.1094G>A (p.Arg365Lys) rs144288263 0.00277
NM_001040142.2(SCN2A):c.387-10G>A rs2304015 0.00277
NM_014795.4(ZEB2):c.489C>T (p.Ile163=) rs138859323 0.00277
NM_053025.4(MYLK):c.984G>A (p.Ser328=) rs115018449 0.00277
NM_000257.4(MYH7):c.2162+4G>A rs145738465 0.00276
NM_000553.6(WRN):c.3785C>G (p.Thr1262Arg) rs78488552 0.00276
NM_004727.3(SLC24A1):c.1859C>T (p.Ala620Val) rs35398714 0.00276
NM_012280.4(FTSJ1):c.270G>T (p.Gly90=) rs138008946 0.00276
NM_015346.4(ZFYVE26):c.4264G>A (p.Val1422Met) rs148552744 0.00276
NM_020297.4(ABCC9):c.1056C>T (p.Tyr352=) rs149408382 0.00276
NM_182961.4(SYNE1):c.10281G>T (p.Thr3427=) rs147402839 0.00276
NM_207361.6(FREM2):c.7335T>C (p.Gly2445=) rs141921562 0.00276
NM_000136.3(FANCC):c.584A>T (p.Asp195Val) rs1800365 0.00275
NM_000257.4(MYH7):c.4452C>T (p.Leu1484=) rs61737803 0.00275
NM_000548.5(TSC2):c.4006-8C>T rs45517325 0.00275
NM_001193315.2(VIPAS39):c.861C>T (p.Ser287=) rs148698913 0.00275
NM_001371333.1(DIABLO):c.670G>A (p.Gly224Arg) rs150199226 0.00275
NM_001692.4(ATP6V1B1):c.1394G>A (p.Arg465His) rs142905621 0.00275
NM_006012.4(CLPP):c.555+3G>A rs200101759 0.00275
NM_182961.4(SYNE1):c.5101G>T (p.Ala1701Ser) rs149758808 0.00275
NM_206933.4(USH2A):c.10858A>G (p.Ile3620Val) rs145207584 0.00275
NM_000257.4(MYH7):c.4353+10G>A rs202205780 0.00274
NM_001083962.2(TCF4):c.1905G>A (p.Ala635=) rs151150677 0.00274
NM_001267550.2(TTN):c.103147G>C (p.Glu34383Gln) rs148525155 0.00274
NM_001267550.2(TTN):c.26863A>G (p.Ile8955Val) rs72648994 0.00274
NM_001267550.2(TTN):c.59315C>T (p.Pro19772Leu) rs72646840 0.00274
NM_001854.4(COL11A1):c.4468A>G (p.Ile1490Val) rs145901197 0.00274
NM_004260.4(RECQL4):c.3392G>A (p.Arg1131Lys) rs201369291 0.00274
NM_005529.7(HSPG2):c.3528+10G>T rs367678569 0.00274
NM_006005.3(WFS1):c.2205C>T (p.Tyr735=) rs71530911 0.00274
NM_016729.3(FOLR1):c.292C>T (p.Arg98Trp) rs76191655 0.00274
NM_020631.6(PLEKHG5):c.88C>T (p.Arg30Cys) rs111400494 0.00274
NM_080669.6(SLC46A1):c.756C>G (p.Val252=) rs185900287 0.00274
NM_001267550.2(TTN):c.24652A>G (p.Ser8218Gly) rs72648980 0.00273
NM_003742.4(ABCB11):c.2943C>T (p.Tyr981=) rs145720664 0.00273
NM_004817.4(TJP2):c.2636A>G (p.Gln879Arg) rs75450131 0.00273
NM_031220.4(PITPNM3):c.226+9C>G rs145880642 0.00273
NM_000059.4(BRCA2):c.4241C>T (p.Thr1414Met) rs70953664 0.00272
NM_000326.5(RLBP1):c.29T>A (p.Met10Lys) rs77384282 0.00272
NM_000540.3(RYR1):c.8376G>A (p.Arg2792=) rs150388417 0.00272
NM_001184880.2(PCDH19):c.1683G>A (p.Pro561=) rs192354176 0.00272
NM_004369.4(COL6A3):c.5820C>T (p.Ser1940=) rs113542401 0.00272
NM_006415.4(SPTLC1):c.1411G>A (p.Val471Ile) rs141292904 0.00272
NM_015909.4(NBAS):c.6790G>C (p.Asp2264His) rs145372749 0.00272
NM_025074.7(FRAS1):c.11907C>G (p.His3969Gln) rs140492803 0.00272
NM_144596.4(TTC8):c.284A>G (p.Lys95Arg) rs150880478 0.00272
NM_206933.4(USH2A):c.2510G>A (p.Arg837Gln) rs148594393 0.00272
NM_000141.5(FGFR2):c.170C>T (p.Ser57Leu) rs56226109 0.00271
NM_000426.4(LAMA2):c.5247C>T (p.Ala1749=) rs149951387 0.00271
NM_005592.4(MUSK):c.1062G>A (p.Thr354=) rs139945437 0.00271
NM_032119.4(ADGRV1):c.6317C>T (p.Ala2106Val) rs186999408 0.00271
NM_138694.4(PKHD1):c.6184C>T (p.Leu2062=) rs116156469 0.00271
NM_138694.4(PKHD1):c.6211A>C (p.Asn2071His) rs143832120 0.00271
NM_000153.4(GALC):c.913A>G (p.Ile305Val) rs74887188 0.00270
NM_000466.3(PEX1):c.2271G>C (p.Leu757Phe) rs142838522 0.00270
NM_001277313.2(FMN1):c.2044-1683C>T rs73378526 0.00270
NM_004562.3(PRKN):c.48G>A (p.Glu16=) rs143477190 0.00270
NM_007126.5(VCP):c.927C>T (p.Ile309=) rs34097935 0.00270
NM_018979.4(WNK1):c.5583+3A>G rs72650758 0.00270
NM_147127.5(EVC2):c.3659+8T>C rs200119306 0.00270
NM_000368.5(TSC1):c.2646C>T (p.Ala882=) rs118203720 0.00269
NM_000392.5(ABCC2):c.4527C>T (p.Asn1509=) rs8187709 0.00269
NM_001457.4(FLNB):c.362A>T (p.Tyr121Phe) rs147846832 0.00269
NM_002900.3(RBP3):c.2650G>A (p.Val884Met) rs11204213 0.00269
NM_005359.6(SMAD4):c.455-6A>G rs181178864 0.00269
NM_006005.3(WFS1):c.1674C>T (p.Arg558=) rs61735402 0.00269
NM_014141.6(CNTNAP2):c.1083G>A (p.Val361=) rs139180845 0.00269
NM_194248.3(OTOF):c.366C>T (p.Asp122=) rs61747283 0.00269
NM_000059.4(BRCA2):c.6100C>T (p.Arg2034Cys) rs1799954 0.00268
NM_000271.5(NPC1):c.3343G>T (p.Val1115Phe) rs34226296 0.00268
NM_004208.4(AIFM1):c.1416T>C (p.Ala472=) rs141324245 0.00268
NM_033087.4(ALG2):c.84C>G (p.Gly28=) rs61744789 0.00268
NM_182961.4(SYNE1):c.8400C>T (p.Leu2800=) rs114747836 0.00268
NM_000168.6(GLI3):c.2373G>A (p.Pro791=) rs61754622 0.00267
NM_001029883.3(PCARE):c.184C>G (p.Pro62Ala) rs76346220 0.00267
NM_001267550.2(TTN):c.55547T>C (p.Ile18516Thr) rs146608896 0.00267
NM_001384140.1(PCDH15):c.1362C>T (p.Val454=) rs61735479 0.00267
NM_001854.4(COL11A1):c.2766A>G (p.Gly922=) rs139911745 0.00267
NM_004380.3(CREBBP):c.6849C>T (p.Ser2283=) rs148904096 0.00267
NM_006516.4(SLC2A1):c.1296C>T (p.Tyr432=) rs75485205 0.00267
NM_014927.5(CNKSR2):c.2449C>T (p.Leu817=) rs150659246 0.00267
NM_017780.4(CHD7):c.7579A>C (p.Met2527Leu) rs192129249 0.00267
NM_020717.5(SHROOM4):c.839G>A (p.Arg280Gln) rs146093347 0.00267
NM_024649.5(BBS1):c.24T>C (p.Asp8=) rs55848325 0.00267
NM_030962.4(SBF2):c.2323G>A (p.Gly775Ser) rs141330687 0.00267
NM_182914.3(SYNE2):c.15781G>A (p.Val5261Ile) rs144605670 0.00267
NM_002485.5(NBN):c.381T>C (p.Ala127=) rs61754795 0.00266
NM_004999.4(MYO6):c.3563A>G (p.Lys1188Arg) rs61734891 0.00266
NM_024408.4(NOTCH2):c.2585C>T (p.Ala862Val) rs35656321 0.00266
NM_000051.4(ATM):c.2362A>C (p.Ser788Arg) rs641252 0.00265
NM_001035.3(RYR2):c.5613C>T (p.Asp1871=) rs116774472 0.00265
NM_001267550.2(TTN):c.76113A>G (p.Glu25371=) rs140350441 0.00265
NM_001267550.2(TTN):c.970C>T (p.Pro324Ser) rs72647845 0.00265
NM_002734.5(PRKAR1A):c.1029C>T (p.Gly343=) rs1803241 0.00265
NM_004369.4(COL6A3):c.730A>G (p.Ile244Val) rs116729313 0.00265
NM_012213.3(MLYCD):c.776G>C (p.Gly259Ala) rs77493891 0.00265
NM_015102.5(NPHP4):c.1622C>T (p.Pro541Leu) rs145255635 0.00265
NM_015311.3(OBSL1):c.903C>T (p.Gly301=) rs201632798 0.00265
NM_017775.4(TTC19):c.1041A>G (p.Gln347=) rs77955179 0.00265
NM_000059.4(BRCA2):c.6220C>A (p.His2074Asn) rs34309943 0.00264
NM_000325.6(PITX2):c.562G>A (p.Ala188Thr) rs77144743 0.00264
NM_000717.5(CA4):c.492G>A (p.Ala164=) rs139119204 0.00264
NM_001035.3(RYR2):c.10254C>T (p.Asn3418=) rs138073811 0.00264
NM_001077365.2(POMT1):c.1126G>A (p.Gly376Arg) rs146869947 0.00264
NM_015311.3(OBSL1):c.751G>T (p.Ala251Ser) rs201338267 0.00264
NM_016239.4(MYO15A):c.10242C>T (p.Phe3414=) rs188485743 0.00264
NM_017739.4(POMGNT1):c.1510G>A (p.Val504Ile) rs17102066 0.00264
NM_018451.5(CENPJ):c.68A>G (p.Asn23Ser) rs116981543 0.00264
NM_025074.7(FRAS1):c.11724T>C (p.Ser3908=) rs151307846 0.00264
NM_078470.6(COX15):c.1026C>T (p.Phe342=) rs147724430 0.00264
NM_172107.4(KCNQ2):c.2544G>A (p.Pro848=) rs147274045 0.00264
NM_001365536.1(SCN9A):c.4356C>T (p.Phe1452=) rs201145311 0.00263
NM_020779.4(WDR35):c.318T>C (p.Ile106=) rs115963122 0.00263
NM_000232.5(SGCB):c.92G>T (p.Ser31Ile) rs115928999 0.00262
NM_000744.7(CHRNA4):c.1352C>T (p.Pro451Leu) rs55915440 0.00262
NM_000744.7(CHRNA4):c.1401C>T (p.Ser467=) rs45569837 0.00262
NM_001017420.3(ESCO2):c.764T>C (p.Phe255Ser) rs141631911 0.00262
NM_001126049.2(KLLN):c.-898G>A rs538728843 0.00262
NM_001127222.2(CACNA1A):c.2678G>A (p.Arg893Gln) rs374664760 0.00262
NM_001257180.2(SLC20A2):c.58T>C (p.Leu20=) rs115993270 0.00262
NM_001267550.2(TTN):c.92537T>C (p.Val30846Ala) rs77968867 0.00262
NM_001369268.1(ACAN):c.7524C>T (p.Ser2508=) rs190361551 0.00262
NM_003701.4(TNFSF11):c.80A>G (p.Glu27Gly) rs200788562 0.00262
NM_018668.5(VPS33B):c.842C>G (p.Ala281Gly) rs115308854 0.00262
NM_022124.6(CDH23):c.8808C>T (p.Asp2936=) rs148743086 0.00262
NM_144573.4(NEXN):c.995A>C (p.Glu332Ala) rs201763096 0.00262
NM_000551.4(VHL):c.74C>T (p.Pro25Leu) rs35460768 0.00261
NM_001267550.2(TTN):c.5388T>C (p.Asp1796=) rs72647878 0.00261
NM_001267550.2(TTN):c.64762G>A (p.Gly21588Arg) rs181717727 0.00261
NM_004260.4(RECQL4):c.3435G>C (p.Gln1145His) rs61755066 0.00261
NM_004360.5(CDH1):c.1680G>C (p.Thr560=) rs35741240 0.00261
NM_139319.3(SLC17A8):c.858T>C (p.Tyr286=) rs148882860 0.00261
NM_152564.5(VPS13B):c.9330+9A>G rs184381851 0.00261
NM_198525.3(KIF7):c.3111+9C>A rs147996726 0.00261
NM_207361.6(FREM2):c.9071A>G (p.Asn3024Ser) rs115149211 0.00261
NM_000059.4(BRCA2):c.6323G>A (p.Arg2108His) rs35029074 0.00260
NM_004369.4(COL6A3):c.8458G>A (p.Val2820Ile) rs115171119 0.00260
NM_032174.6(TOMM40L):c.*694G>A rs147849659 0.00260
NM_206933.4(USH2A):c.6236A>C (p.Lys2079Thr) rs147039836 0.00260
NM_000070.3(CAPN3):c.930T>C (p.Asp310=) rs150356488 0.00259
NM_002693.3(POLG):c.948G>A (p.Lys316=) rs61756401 0.00259
NM_004463.3(FGD1):c.676G>A (p.Ala226Thr) rs138723423 0.00259
NM_004937.3(CTNS):c.462-7C>A rs189632527 0.00259
NM_016203.4(PRKAG2):c.111T>A (p.Ile37=) rs144426409 0.00259
NM_181882.3(PRX):c.2043C>T (p.Pro681=) rs56743160 0.00259
NM_182914.3(SYNE2):c.20410G>A (p.Asp6804Asn) rs150644129 0.00259
NM_001048166.1(STIL):c.1136C>T (p.Ser379Phe) rs149185431 0.00258
NM_001267550.2(TTN):c.70677T>C (p.Asp23559=) rs72646890 0.00258
NM_001429.4(EP300):c.5814G>A (p.Thr1938=) rs112948044 0.00258
NM_005477.3(HCN4):c.2275G>A (p.Val759Ile) rs62641689 0.00258
NM_005591.4(MRE11):c.969A>G (p.Pro323=) rs13447633 0.00258
NM_012463.4(ATP6V0A2):c.1258G>T (p.Val420Leu) rs138716143 0.00258
NM_013382.7(POMT2):c.924-10C>T rs142122657 0.00258
NM_024408.4(NOTCH2):c.3625T>G (p.Phe1209Val) rs147223770 0.00258
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_001297.5(CNGB1):c.1580C>T (p.Ala527Val) rs78292723 0.00257
NM_004329.3(BMPR1A):c.618A>G (p.Leu206=) rs55992440 0.00257
NM_022081.6(HPS4):c.1883G>A (p.Arg628His) rs78892693 0.00257
NM_000168.6(GLI3):c.1357-17C>G rs190600888 0.00256
NM_001110792.2(MECP2):c.1371G>A (p.Thr457=) rs3027927 0.00256
NM_002547.3(OPHN1):c.2324+10G>T rs144475530 0.00256
NM_000542.5(SFTPB):c.291G>A (p.Glu97=) rs34682912 0.00255
NM_001267550.2(TTN):c.84893G>A (p.Arg28298Gln) rs187270666 0.00255
NM_001267550.2(TTN):c.88708A>G (p.Ile29570Val) rs139506970 0.00255
NM_004360.5(CDH1):c.324A>G (p.Arg108=) rs116542018 0.00255
NM_015311.3(OBSL1):c.2238G>A (p.Pro746=) rs142650279 0.00255
NM_017780.4(CHD7):c.7209G>A (p.Arg2403=) rs61746518 0.00255
NM_182914.3(SYNE2):c.12984A>G (p.Lys4328=) rs151314114 0.00255
NM_133497.4(KCNV2):c.58G>A (p.Glu20Lys) rs76776637 0.00254
NM_201253.3(CRB1):c.600A>G (p.Thr200=) rs77713666 0.00254
NM_001369.3(DNAH5):c.7752+10T>C rs149460805 0.00253
NM_003839.4(TNFRSF11A):c.625G>A (p.Val209Ile) rs146793660 0.00253
NM_005379.4(MYO1A):c.2032A>T (p.Ile678Phe) rs151269703 0.00253
NM_005765.3(ATP6AP2):c.189C>T (p.Leu63=) rs150392503 0.00253
NM_005802.5(TOPORS):c.2643C>G (p.His881Gln) rs41302222 0.00253
NM_014141.6(CNTNAP2):c.1220A>G (p.Asn407Ser) rs143877693 0.00253
NM_015294.6(TRIM37):c.2049C>T (p.Ala683=) rs35871562 0.00253
NM_016616.5(NME8):c.1405A>C (p.Ile469Leu) rs147791304 0.00253
NM_018136.5(ASPM):c.9996T>C (p.Thr3332=) rs139927527 0.00253
NM_001134363.3(RBM20):c.3265C>G (p.Pro1089Ala) rs147356378 0.00252
NM_001267550.2(TTN):c.69383C>A (p.Ser23128Tyr) rs72646882 0.00252
NM_001457.4(FLNB):c.1044C>T (p.Asp348=) rs111996979 0.00252
NM_001848.3(COL6A1):c.2130G>A (p.Thr710=) rs147219060 0.00252
NM_004380.3(CREBBP):c.5052C>T (p.Ser1684=) rs2072381 0.00252
NM_007294.4(BRCA1):c.4987-20A>G rs80358035 0.00252
NM_152415.3(VPS37A):c.637A>G (p.Ile213Val) rs17687375 0.00252
NM_001130823.3(DNMT1):c.4428T>G (p.His1476Gln) rs142647321 0.00251
NM_001173990.3(TMEM216):c.211G>T (p.Val71Leu) rs57932685 0.00251
NM_001267550.2(TTN):c.96501T>C (p.Ser32167=) rs139223781 0.00251
NM_001267550.2(TTN):c.97490T>C (p.Ile32497Thr) rs55660660 0.00251
NM_003049.4(SLC10A1):c.800C>T (p.Ser267Phe) rs2296651 0.00251
NM_015192.4(PLCB1):c.3116T>C (p.Ile1039Thr) rs75820839 0.00251
NM_024301.5(FKRP):c.822C>G (p.Ile274Met) rs77138370 0.00251
NM_000038.6(APC):c.3386T>C (p.Leu1129Ser) rs143638171 0.00250
NM_000141.5(FGFR2):c.17G>C (p.Arg6Pro) rs3750819 0.00250
NM_001182.5(ALDH7A1):c.1234A>G (p.Thr412Ala) rs2306618 0.00250
NM_001267550.2(TTN):c.83740A>G (p.Thr27914Ala) rs188370772 0.00250
NM_017739.4(POMGNT1):c.301G>A (p.Val101Ile) rs150576537 0.00250
NM_031885.5(BBS2):c.1422G>A (p.Ser474=) rs117033008 0.00250
NM_000088.4(COL1A1):c.1984-5C>A rs66592376 0.00249
NM_182914.3(SYNE2):c.10835A>G (p.Gln3612Arg) rs78110192 0.00249
NM_000023.4(SGCA):c.-8G>A rs149296410 0.00248
NM_001165963.4(SCN1A):c.1377+10C>T rs56112036 0.00248
NM_001378452.1(ITPR1):c.3894C>T (p.Asn1298=) rs182840163 0.00248
NM_025009.5(CEP135):c.3265T>A (p.Leu1089Ile) rs76659072 0.00248
NM_000256.3(MYBPC3):c.2992C>G (p.Gln998Glu) rs11570112 0.00247
NM_001099922.3(ALG13):c.2898T>C (p.Tyr966=) rs368002375 0.00247
NM_001267550.2(TTN):c.41103C>T (p.Gly13701=) rs72650077 0.00247
NM_002087.4(GRN):c.1298G>A (p.Arg433Gln) rs114248177 0.00247
NM_002180.3(IGHMBP2):c.2091G>A (p.Pro697=) rs113615425 0.00247
NM_003282.4(TNNI2):c.354G>A (p.Ser118=) rs141400587 0.00247
NM_004004.6(GJB2):c.457G>A (p.Val153Ile) rs111033186 0.00247
NM_201384.3(PLEC):c.1956C>T (p.Thr652=) rs201835507 0.00247
NM_206933.4(USH2A):c.12608A>G (p.Gln4203Arg) rs148556640 0.00247
NM_000124.4(ERCC6):c.4065T>G (p.Asp1355Glu) rs34917815 0.00246
NM_000540.3(RYR1):c.4443C>T (p.Asn1481=) rs141317474 0.00246
NM_000337.6(SGCD):c.699+71G>A rs187204080 0.00245
NM_000393.5(COL5A2):c.2562C>T (p.Asp854=) rs148430780 0.00245
NM_001082538.3(TCTN1):c.1379G>C (p.Ser460Thr) rs190390987 0.00245
NM_005159.5(ACTC1):c.454+9G>A rs148695567 0.00245
NM_020436.5(SALL4):c.2290T>C (p.Ser764Pro) rs150549656 0.00245
NM_024408.4(NOTCH2):c.3519C>T (p.Cys1173=) rs115325955 0.00245
NM_032119.4(ADGRV1):c.3295A>G (p.Thr1099Ala) rs61754947 0.00245
NM_000090.4(COL3A1):c.1927T>C (p.Leu643=) rs41263757 0.00244
NM_001008216.2(GALE):c.912G>A (p.Val304=) rs143694860 0.00244
NM_001379081.2(FREM1):c.4711G>A (p.Asp1571Asn) rs115421185 0.00244
NM_003240.5(LEFTY2):c.1035C>T (p.Asn345=) rs112610798 0.00244
NM_005529.7(HSPG2):c.2462C>T (p.Ala821Val) rs141901178 0.00244
NM_014251.3(SLC25A13):c.1680C>T (p.Ser560=) rs150082469 0.00244
NM_016032.4(ZDHHC9):c.167+10G>A rs140526450 0.00244
NM_001232.4(CASQ2):c.198G>A (p.Thr66=) rs74114618 0.00243
NM_005529.7(HSPG2):c.3945T>C (p.Ser1315=) rs72866991 0.00243
NM_006432.5(NPC2):c.*9T>C rs80216539 0.00243
NM_020822.3(KCNT1):c.2430C>T (p.Ala810=) rs139114208 0.00243
NM_152564.5(VPS13B):c.2643A>T (p.Lys881Asn) rs148777544 0.00243
NM_173660.5(DOK7):c.1295G>A (p.Arg432Lys) rs145419117 0.00243
NM_000540.3(RYR1):c.14130-8C>G rs140808099 0.00242
NM_001164508.2(NEB):c.4980C>T (p.Pro1660=) rs142074817 0.00242
NM_001292063.2(OTOG):c.7867G>A (p.Asp2623Asn) rs183470913 0.00242
NM_001849.4(COL6A2):c.2332G>A (p.Asp778Asn) rs28562813 0.00242
NM_001852.4(COL9A2):c.1007C>A (p.Ala336Glu) rs150075912 0.00242
NM_002381.5(MATN3):c.1169-10G>A rs149849256 0.00242
NM_002474.3(MYH11):c.453G>A (p.Pro151=) rs61734199 0.00242
NM_004006.3(DMD):c.10087-24A>G rs72466541 0.00242
NM_006031.6(PCNT):c.9274-3C>T rs200348425 0.00242
NM_032119.4(ADGRV1):c.7284T>C (p.Asn2428=) rs148932387 0.00242
NM_182914.3(SYNE2):c.19415C>T (p.Ser6472Leu) rs150955173 0.00242
NM_000137.4(FAH):c.1259G>A (p.Ter420=) rs61747586 0.00241
NM_000337.6(SGCD):c.*2A>C rs200757725 0.00241
NM_000381.4(MID1):c.1698A>G (p.Glu566=) rs34554583 0.00241
NM_000543.5(SMPD1):c.441G>A (p.Val147=) rs148944108 0.00241
NM_001793.6(CDH3):c.1500C>T (p.Thr500=) rs35232945 0.00241
NM_020800.3(IFT80):c.1864G>A (p.Ala622Thr) rs138161346 0.00241
NM_024408.4(NOTCH2):c.7042T>C (p.Leu2348=) rs61734328 0.00241
NM_000260.4(MYO7A):c.4992C>T (p.Thr1664=) rs181573957 0.00240
NM_000381.4(MID1):c.2000C>T (p.Pro667Leu) rs147106995 0.00240
NM_000557.5(GDF5):c.652A>C (p.Arg218=) rs116467702 0.00240
NM_001267550.2(TTN):c.26682G>A (p.Pro8894=) rs142812510 0.00240
NM_002474.3(MYH11):c.3828G>A (p.Ala1276=) rs113154524 0.00240
NM_004924.6(ACTN4):c.1770C>T (p.Ile590=) rs140707871 0.00240
NM_007294.4(BRCA1):c.4535G>T (p.Ser1512Ile) rs1800744 0.00240
NM_020366.4(RPGRIP1):c.2284C>T (p.Leu762=) rs145896974 0.00240
NM_024757.5(EHMT1):c.581C>T (p.Pro194Leu) rs35570782 0.00240
NM_025074.7(FRAS1):c.11718T>C (p.Ile3906=) rs142389362 0.00240
NM_000059.4(BRCA2):c.8182G>A (p.Val2728Ile) rs28897749 0.00239
NM_000318.3(PEX2):c.209A>G (p.Tyr70Cys) rs35689779 0.00239
NM_000370.3(TTPA):c.48G>A (p.Ala16=) rs562202164 0.00239
NM_000726.5(CACNB4):c.655A>G (p.Met219Val) rs201870832 0.00239
NM_001379110.1(SLC9A6):c.1460+4A>G rs180727016 0.00239
NM_005378.6(MYCN):c.207G>A (p.Glu69=) rs41264199 0.00239
NM_006005.3(WFS1):c.2356G>A (p.Gly786Ser) rs71578980 0.00239
NM_017780.4(CHD7):c.3697G>A (p.Gly1233Ser) rs190548814 0.00239
NM_032273.4(TMEM126A):c.154A>G (p.Ser52Gly) rs140047528 0.00239
NM_001267550.2(TTN):c.103363C>T (p.Arg34455Cys) rs72629785 0.00238
NM_001267550.2(TTN):c.84461C>T (p.Pro28154Leu) rs200350579 0.00238
NM_001365902.3(NFIX):c.1140G>A (p.Ser380=) rs201174259 0.00238
NM_003383.5(VLDLR):c.982A>G (p.Ser328Gly) rs116306908 0.00238
NM_003482.4(KMT2D):c.6573G>A (p.Thr2191=) rs202085637 0.00238
NM_004999.4(MYO6):c.1224-4A>G rs144031818 0.00238
NM_020975.6(RET):c.1336G>C (p.Gly446Arg) rs115423919 0.00238
NM_000017.4(ACADS):c.423G>A (p.Thr141=) rs2239686 0.00237
NM_000179.3(MSH6):c.3439-16C>T rs192614006 0.00237
NM_000283.4(PDE6B):c.711+10C>T rs201100689 0.00237
NM_001023570.4(IQCB1):c.1549A>T (p.Asn517Tyr) rs139468837 0.00237
NM_014989.7(RIMS1):c.4983G>A (p.Pro1661=) rs377743730 0.00237
NM_133497.4(KCNV2):c.291C>T (p.Ser97=) rs113456345 0.00237
NM_182961.4(SYNE1):c.18185C>T (p.Ser6062Leu) rs139790539 0.00237
NM_000557.5(GDF5):c.462C>A (p.Pro154=) rs150686636 0.00236
NM_000742.4(CHRNA2):c.449+12T>C rs202012980 0.00236
NM_001605.3(AARS1):c.1672-4T>A rs187509039 0.00236
NM_004360.5(CDH1):c.345G>A (p.Thr115=) rs1801023 0.00236
NM_014141.6(CNTNAP2):c.681C>T (p.His227=) rs142984073 0.00236
NM_018941.4(CLN8):c.290G>A (p.Arg97His) rs116605307 0.00236
NM_022124.6(CDH23):c.4842G>C (p.Leu1614=) rs368377560 0.00236
NM_025009.5(CEP135):c.638T>C (p.Val213Ala) rs150331261 0.00236
NM_025074.7(FRAS1):c.11605A>G (p.Ile3869Val) rs145035489 0.00236
NM_080916.3(DGUOK):c.123C>G (p.Leu41=) rs145252858 0.00236
NM_207122.2(EXT2):c.710C>T (p.Ser237Leu) rs139525250 0.00236
NM_000162.5(GCK):c.333C>T (p.Pro111=) rs61736250 0.00235
NM_000702.4(ATP1A2):c.2967C>T (p.Phe989=) rs138826759 0.00235
NM_000875.5(IGF1R):c.1474G>A (p.Val492Ile) rs61740877 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_015102.5(NPHP4):c.453-27G>A rs200754878 0.00235
NM_000124.4(ERCC6):c.3745G>A (p.Asp1249Asn) rs114234514 0.00234
NM_000441.2(SLC26A4):c.1545-5T>G rs77944876 0.00234
NM_001128840.3(CACNA1D):c.1407C>T (p.Ser469=) rs146730044 0.00234
NM_001267550.2(TTN):c.96108G>A (p.Val32036=) rs372773283 0.00234
NM_001844.5(COL2A1):c.3151G>A (p.Ala1051Thr) rs41272041 0.00234
NM_004541.4(NDUFA1):c.141G>C (p.Leu47=) rs140064980 0.00234
NM_017534.6(MYH2):c.4860C>G (p.Leu1620=) rs148538539 0.00234
NM_024747.6(HPS6):c.99A>G (p.Arg33=) rs139591041 0.00234
NM_000030.3(AGXT):c.590G>A (p.Arg197Gln) rs34664134 0.00233
NM_004380.3(CREBBP):c.2973C>T (p.Asp991=) rs142528559 0.00233
NM_005633.4(SOS1):c.570C>T (p.Asp190=) rs55980502 0.00233
NM_006662.3(SRCAP):c.5631C>G (p.Pro1877=) rs147477244 0.00233
NM_000329.3(RPE65):c.881A>C (p.Lys294Thr) rs61752901 0.00232
NM_001037.5(SCN1B):c.267C>T (p.Arg89=) rs140949982 0.00232
NM_001173467.3(SP7):c.864G>A (p.Leu288=) rs113295055 0.00232
NM_001384140.1(PCDH15):c.4672-1640A>G rs145178582 0.00232
NM_004287.5(GOSR2):c.40G>A (p.Glu14Lys) rs113817924 0.00232
NM_004560.4(ROR2):c.1686C>T (p.His562=) rs56048121 0.00232
NM_022437.3(ABCG8):c.491G>A (p.Arg164Gln) rs74358901 0.00232
NM_025074.7(FRAS1):c.10594A>G (p.Ile3532Val) rs144715071 0.00232
NM_080669.6(SLC46A1):c.1366C>T (p.Pro456Ser) rs186143284 0.00232
NM_000030.3(AGXT):c.557C>T (p.Ala186Val) rs117195882 0.00231
NM_000330.4(RS1):c.184+3208G>A rs150900695 0.00231
NM_000548.5(TSC2):c.1747G>A (p.Ala583Thr) rs1800729 0.00231
NM_000554.6(CRX):c.196G>A (p.Val66Ile) rs61748438 0.00231
NM_001033855.3(DCLRE1C):c.2001A>G (p.Leu667=) rs61749163 0.00231
NM_001378414.1(HDAC4):c.1809G>A (p.Glu603=) rs148813865 0.00231
NM_002615.7(SERPINF1):c.555G>A (p.Gln185=) rs34063250 0.00231
NM_001370298.3(FGD4):c.1296C>T (p.Phe432=) rs151083690 0.00230
NM_001852.4(COL9A2):c.1981C>A (p.Pro661Thr) rs140041506 0.00230
NM_003242.6(TGFBR2):c.1525-8C>T rs11466530 0.00230
NM_018714.3(COG1):c.1893C>T (p.Cys631=) rs80232475 0.00230
NM_138694.4(PKHD1):c.2853C>T (p.Thr951=) rs139815340 0.00230
NM_182914.3(SYNE2):c.20382+9A>G rs116394628 0.00230
NM_201384.3(PLEC):c.3778C>G (p.Arg1260Gly) rs151022876 0.00230
NM_001277115.2(DNAH11):c.4430T>C (p.Val1477Ala) rs72657320 0.00229
NM_017780.4(CHD7):c.8790C>T (p.Ala2930=) rs61736186 0.00229
NM_130837.3(OPA1):c.1342A>C (p.Arg448=) rs149752576 0.00229
NM_130837.3(OPA1):c.43C>A (p.Gln15Lys) rs75414918 0.00229
NM_172364.5(CACNA2D4):c.2921+7G>C rs202022529 0.00229
NM_198525.3(KIF7):c.2335G>C (p.Glu779Gln) rs116823950 0.00229
NM_000059.4(BRCA2):c.3516G>A (p.Ser1172=) rs1799952 0.00228
NM_000059.4(BRCA2):c.7626G>A (p.Thr2542=) rs61754138 0.00228
NM_001035.3(RYR2):c.6555+6G>A rs372661934 0.00228
NM_001184880.2(PCDH19):c.2796C>T (p.Asn932=) rs193148631 0.00228
NM_006059.4(LAMC3):c.3927+8C>G rs148008251 0.00228
NM_006363.6(SEC23B):c.2298C>T (p.Ala766=) rs77945587 0.00228
NM_024747.6(HPS6):c.1779G>A (p.Pro593=) rs77529785 0.00228
NM_032119.4(ADGRV1):c.7582C>T (p.Pro2528Ser) rs201733037 0.00228
NM_000540.3(RYR1):c.216G>T (p.Leu72=) rs113389877 0.00227
NM_001110556.2(FLNA):c.5972C>T (p.Ser1991Leu) rs187029309 0.00227
NM_003611.3(OFD1):c.2044A>C (p.Ile682Leu) rs148239437 0.00227
NM_004260.4(RECQL4):c.891C>T (p.Asp297=) rs34700133 0.00227
NM_002335.4(LRP5):c.4209C>G (p.Val1403=) rs147671915 0.00226
NM_002474.3(MYH11):c.4239C>T (p.Ala1413=) rs138573101 0.00226
NM_005045.4(RELN):c.8811G>A (p.Ala2937=) rs144728023 0.00226
NM_006059.4(LAMC3):c.3347C>G (p.Ala1116Gly) rs36028197 0.00226
NM_000784.4(CYP27A1):c.243G>A (p.Leu81=) rs75897848 0.00225
NM_000823.4(GHRHR):c.673G>A (p.Val225Ile) rs28371560 0.00225
NM_001267550.2(TTN):c.101245G>A (p.Val33749Met) rs201554140 0.00225
NM_001429.4(EP300):c.6636G>A (p.Gln2212=) rs142673005 0.00225
NM_001793.6(CDH3):c.1087C>T (p.Arg363Cys) rs74026937 0.00225
NM_004369.4(COL6A3):c.7400C>T (p.Ser2467Leu) rs111803773 0.00225
NM_005120.3(MED12):c.384A>G (p.Gln128=) rs201566660 0.00225
NM_006180.6(NTRK2):c.2430C>T (p.Pro810=) rs56142442 0.00225
NM_021625.5(TRPV4):c.1824+4C>T rs147259744 0.00225
NM_153704.6(TMEM67):c.25G>A (p.Val9Met) rs199961375 0.00225
NM_201384.3(PLEC):c.11994C>T (p.Pro3998=) rs113137721 0.00225
NM_000426.4(LAMA2):c.8755C>T (p.Pro2919Ser) rs143026295 0.00224
NM_001079802.2(FKTN):c.668C>T (p.Thr223Ile) rs116105846 0.00224
NM_014319.5(LEMD3):c.2388-7C>T rs184015447 0.00224
NM_025193.4(HSD3B7):c.357C>T (p.Thr119=) rs117645456 0.00224
NM_133642.5(LARGE1):c.1788G>A (p.Ala596=) rs74550830 0.00224
NM_001943.5(DSG2):c.3209C>T (p.Thr1070Met) rs149617776 0.00223
NM_003482.4(KMT2D):c.8774C>T (p.Ala2925Val) rs199547661 0.00223
NM_004380.3(CREBBP):c.6003T>C (p.Asn2001=) rs200998860 0.00223
NM_006005.3(WFS1):c.2124C>T (p.Arg708=) rs61735401 0.00223
NM_018418.5(SPATA7):c.366A>T (p.Leu122Phe) rs150093878 0.00223
NM_000163.5(GHR):c.99C>G (p.Pro33=) rs76183160 0.00222
NM_000295.5(SERPINA1):c.922G>T (p.Ala308Ser) rs141620200 0.00222
NM_000744.7(CHRNA4):c.1353G>A (p.Pro451=) rs113168860 0.00222
NM_001077365.2(POMT1):c.1416C>T (p.Val472=) rs139687326 0.00222
NM_001267550.2(TTN):c.47737C>T (p.Leu15913Phe) rs138576504 0.00222
NM_001374353.1(GLI2):c.3298G>T (p.Val1100Leu) rs147580961 0.00222
NM_006017.3(PROM1):c.1977C>T (p.Asn659=) rs149028760 0.00222
NM_014795.4(ZEB2):c.2887-4G>A rs147972125 0.00222
NM_030662.4(MAP2K2):c.1162C>T (p.Arg388Trp) rs144383241 0.00222
NM_133261.3(GIPC3):c.706-12G>A rs112949777 0.00222
NM_001039213.4(CEACAM16):c.352G>A (p.Glu118Lys) rs183860695 0.00221
NM_002334.4(LRP4):c.1494C>T (p.Asn498=) rs61749083 0.00221
NM_020779.4(WDR35):c.355C>T (p.Arg119Cys) rs140308808 0.00221
NM_198999.3(SLC26A5):c.1813A>G (p.Thr605Ala) rs142849754 0.00221
NM_000089.4(COL1A2):c.594+5A>T rs200744314 0.00220
NM_001044385.3(TMEM237):c.136+8G>A rs200618675 0.00220
NM_001101426.4(CRPPA):c.79A>C (p.Thr27Pro) rs558064127 0.00220
NM_002529.4(NTRK1):c.254G>A (p.Arg85His) rs79678945 0.00220
NM_003664.5(AP3B1):c.2730T>C (p.Thr910=) rs143527588 0.00220
NM_005529.7(HSPG2):c.9789C>A (p.Leu3263=) rs137921473 0.00220
NM_005802.5(TOPORS):c.1560A>G (p.Gln520=) rs61756347 0.00220
NM_006662.3(SRCAP):c.9444T>C (p.Ser3148=) rs142948420 0.00220
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_033056.4(PCDH15):c.5286T>A (p.Pro1762=) rs58461416 0.00220
NM_172107.4(KCNQ2):c.1545G>C (p.Glu515Asp) rs117067974 0.00220
NM_000548.5(TSC2):c.3889G>A (p.Ala1297Thr) rs45517319 0.00219
NM_001110556.2(FLNA):c.7686C>T (p.Ala2562=) rs76337075 0.00219
NM_001267550.2(TTN):c.4199G>C (p.Ser1400Thr) rs138506461 0.00219
NM_198428.3(BBS9):c.1648A>G (p.Ile550Val) rs150399299 0.00219
NM_000466.3(PEX1):c.330C>G (p.Pro110=) rs71560821 0.00218
NM_001267550.2(TTN):c.57683G>A (p.Arg19228His) rs114711705 0.00218
NM_001384474.1(LOXHD1):c.5689C>T (p.Leu1897=) rs202043044 0.00218
NM_003680.4(YARS1):c.52C>T (p.Leu18=) rs147538442 0.00218
NM_005045.4(RELN):c.9321C>T (p.Leu3107=) rs150387973 0.00218
NM_017780.4(CHD7):c.1536A>G (p.Pro512=) rs148577619 0.00218
NM_201384.3(PLEC):c.6069C>G (p.Arg2023=) rs376365984 0.00218
NM_000243.3(MEFV):c.329T>C (p.Leu110Pro) rs11466018 0.00217
NM_001128225.3(SLC39A13):c.439C>G (p.Gln147Glu) rs148291843 0.00217
NM_001142800.2(EYS):c.988G>A (p.Glu330Lys) rs144803840 0.00217
NM_001164508.2(NEB):c.3348C>T (p.Asn1116=) rs149162847 0.00217
NM_004380.3(CREBBP):c.4822C>A (p.Pro1608Thr) rs73491901 0.00217
NM_004380.3(CREBBP):c.6564G>A (p.Gln2188=) rs73491896 0.00217
NM_004463.3(FGD1):c.2268C>T (p.Cys756=) rs61734178 0.00217
NM_005633.4(SOS1):c.1230G>A (p.Gln410=) rs141390073 0.00217
NM_006514.4(SCN10A):c.1453C>T (p.Arg485Cys) rs151153639 0.00217
NM_017780.4(CHD7):c.216T>C (p.Tyr72=) rs16926453 0.00217
NM_024596.5(MCPH1):c.2401A>G (p.Ser801Gly) rs45540031 0.00217
NM_000466.3(PEX1):c.2442C>T (p.Phe814=) rs145430946 0.00216
NM_001177316.2(SLC34A3):c.1585A>T (p.Ile529Phe) rs140639805 0.00216
NM_001267550.2(TTN):c.65092C>T (p.Arg21698Cys) rs72646861 0.00216
NM_001365536.1(SCN9A):c.3506A>C (p.Asn1169Thr) rs151241025 0.00216
NM_003482.4(KMT2D):c.11141G>A (p.Arg3714Lys) rs186696516 0.00216
NM_004463.3(FGD1):c.1617G>A (p.Pro539=) rs151184308 0.00216
NM_005120.3(MED12):c.1386G>T (p.Val462=) rs186153976 0.00216
NM_000784.4(CYP27A1):c.1505C>A (p.Ala502Asp) rs140842830 0.00215
NM_001126121.2(SLC25A19):c.483C>T (p.Ala161=) rs142281464 0.00215
NM_001166114.2(PNPLA6):c.173T>C (p.Val58Ala) rs188353745 0.00215
NM_001177316.2(SLC34A3):c.1454G>A (p.Arg485His) rs138872455 0.00215
NM_001267550.2(TTN):c.32367G>A (p.Lys10789=) rs79232842 0.00215
NM_001493.3(GDI1):c.324C>T (p.Ser108=) rs2230286 0.00215
NM_004082.5(DCTN1):c.1617A>G (p.Glu539=) rs139061654 0.00215
NM_005957.5(MTHFR):c.276C>T (p.Asp92=) rs45546035 0.00215
NM_012434.5(SLC17A5):c.1324G>A (p.Val442Ile) rs74360232 0.00215
NM_000112.4(SLC26A2):c.2087A>G (p.Asn696Ser) rs34351171 0.00214
NM_001025389.2(AMPD3):c.1503C>T (p.Phe501=) rs78473994 0.00214
NM_001851.6(COL9A1):c.138G>A (p.Lys46=) rs139361722 0.00214
NM_002547.3(OPHN1):c.2056C>T (p.Pro686Ser) rs139691746 0.00214
NM_206933.4(USH2A):c.14960C>T (p.Ala4987Val) rs111033498 0.00214
NM_000038.6(APC):c.705A>G (p.Leu235=) rs147036141 0.00213
NM_000466.3(PEX1):c.473-3C>T rs150576000 0.00213
NM_006005.3(WFS1):c.712+16G>A rs71524367 0.00213
NM_015192.4(PLCB1):c.3120A>G (p.Gln1040=) rs61755436 0.00213
NM_020223.4(FAM20C):c.1681G>A (p.Val561Met) rs145750007 0.00213
NM_024301.5(FKRP):c.1440C>T (p.Asn480=) rs115365212 0.00213
NM_152564.5(VPS13B):c.5501C>T (p.Ser1834Leu) rs144257406 0.00213
NM_000492.4(CFTR):c.2620-15C>G rs139379077 0.00212
NM_001277115.2(DNAH11):c.13076G>A (p.Arg4359Gln) rs113653972 0.00212
NM_001377.3(DYNC2H1):c.9297T>C (p.Tyr3099=) rs180787556 0.00212
NM_005045.4(RELN):c.5618C>T (p.Thr1873Ile) rs41275239 0.00212
NM_130837.3(OPA1):c.321G>A (p.Ser107=) rs117888848 0.00212
NM_000702.4(ATP1A2):c.25T>A (p.Tyr9Asn) rs55858252 0.00211
NM_001035.3(RYR2):c.6555+8C>T rs1759122 0.00211
NM_001044385.3(TMEM237):c.1134T>C (p.Tyr378=) rs77570029 0.00211
NM_001044385.3(TMEM237):c.194A>G (p.Asn65Ser) rs141817764 0.00211
NM_001128178.3(NPHP1):c.133A>C (p.Ile45Leu) rs145479679 0.00211
NM_004006.3(DMD):c.31+36946C>T rs186833917 0.00211
NM_004817.4(TJP2):c.698G>A (p.Arg233Gln) rs150883816 0.00211
NM_017946.4(FKBP14):c.495G>A (p.Lys165=) rs142474407 0.00211
NM_018979.4(WNK1):c.2490G>A (p.Pro830=) rs79816263 0.00211
NM_001145809.2(MYH14):c.3079C>T (p.Leu1027=) rs113152264 0.00210
NM_001323289.2(CDKL5):c.1332C>T (p.Arg444=) rs150844616 0.00210
NM_001849.4(COL6A2):c.1671+9C>T rs186428044 0.00210
NM_004369.4(COL6A3):c.8465-34C>T rs113165742 0.00210
NM_004637.6(RAB7A):c.423C>G (p.Ala141=) rs61758751 0.00210
NM_006204.4(PDE6C):c.471T>G (p.Asp157Glu) rs76999928 0.00210
NM_014141.6(CNTNAP2):c.551-11T>G rs78223661 0.00210
NM_000548.5(TSC2):c.4908C>T (p.Asp1636=) rs115200071 0.00209
NM_000719.7(CACNA1C):c.1176G>T (p.Gly392=) rs1051360 0.00209
NM_001267550.2(TTN):c.54208A>C (p.Arg18070=) rs138240658 0.00209
NM_005609.4(PYGM):c.577G>T (p.Ala193Ser) rs77656150 0.00209
NM_014491.4(FOXP2):c.552A>G (p.Gln184=) rs146945410 0.00209
NM_000744.7(CHRNA4):c.1143C>T (p.Ala381=) rs75221202 0.00208
NM_006445.4(PRPF8):c.1666C>T (p.Leu556=) rs139305061 0.00208
NM_006493.4(CLN5):c.-99G>C rs202118652 0.00208
NM_201253.3(CRB1):c.2306G>A (p.Arg769His) rs62636287 0.00208
NM_001378452.1(ITPR1):c.1886+7C>T rs181465598 0.00207
NM_001851.6(COL9A1):c.904G>A (p.Gly302Ser) rs151129325 0.00207
NM_005422.4(TECTA):c.1812C>T (p.Ser604=) rs138914618 0.00207
NM_006445.4(PRPF8):c.1929C>T (p.Gly643=) rs140040625 0.00207
NM_172107.4(KCNQ2):c.*4G>A rs1801508 0.00207
NM_000540.3(RYR1):c.12283-7C>T rs143861818 0.00206
NM_002878.4(RAD51D):c.771C>T (p.Ser257=) rs146212490 0.00206
NM_004380.3(CREBBP):c.293G>T (p.Gly98Val) rs141982003 0.00206
NM_014795.4(ZEB2):c.1480C>T (p.Pro494Ser) rs144952836 0.00206
NM_021101.5(CLDN1):c.147G>A (p.Gly49=) rs142242567 0.00206
NM_022455.5(NSD1):c.4520C>T (p.Thr1507Met) rs144900277 0.00206
NM_001042545.2(LTBP4):c.3129C>T (p.Val1043=) rs78745792 0.00205
NM_001369.3(DNAH5):c.9355A>G (p.Lys3119Glu) rs76690956 0.00205
NM_001371623.1(TCOF1):c.3712G>A (p.Ala1238Thr) rs137960641 0.00205
NM_001852.4(COL9A2):c.1551C>T (p.Gly517=) rs140697524 0.00205
NM_003072.5(SMARCA4):c.*1G>T rs76118382 0.00205
NM_005559.4(LAMA1):c.2989C>T (p.Pro997Ser) rs148593258 0.00205
NM_007254.4(PNKP):c.579G>A (p.Arg193=) rs145904995 0.00205
NM_014319.5(LEMD3):c.1560+10C>T rs144815611 0.00205
NM_000271.5(NPC1):c.1232G>A (p.Arg411Gln) rs77080672 0.00204
NM_004260.4(RECQL4):c.565G>A (p.Gly189Ser) rs34371341 0.00204
NM_032119.4(ADGRV1):c.17735C>G (p.Ser5912Cys) rs146120983 0.00204
NM_000059.4(BRCA2):c.7150C>A (p.Gln2384Lys) rs55977008 0.00203
NM_000255.4(MMUT):c.1084-50A>G rs141825870 0.00203
NM_000539.3(RHO):c.558G>A (p.Ser186=) rs145549270 0.00203
NM_001128178.3(NPHP1):c.771+59G>A rs143174377 0.00203
NM_001194998.2(CEP152):c.4072C>G (p.Gln1358Glu) rs149478199 0.00203
NM_014639.4(SKIC3):c.3940G>A (p.Glu1314Lys) rs74664147 0.00203
NM_022124.6(CDH23):c.6705C>T (p.Ile2235=) rs114827737 0.00203
NM_000059.4(BRCA2):c.8503T>C (p.Ser2835Pro) rs11571746 0.00202
NM_001267550.2(TTN):c.5231C>T (p.Pro1744Leu) rs75686037 0.00202
NM_000860.6(HPGD):c.93+1_93+3dup rs70947447 0.00201
NM_001374385.1(ATP8B1):c.1286A>C (p.Glu429Ala) rs34018205 0.00201
NM_015295.3(SMCHD1):c.1956+7C>T rs145755468 0.00201
NM_033337.3(CAV3):c.-1G>A rs74377241 0.00201
NM_000744.7(CHRNA4):c.1047G>A (p.Leu349=) rs75593857 0.00200
NM_001110792.2(MECP2):c.933C>T (p.Thr311=) rs61748423 0.00200
NM_001130987.2(DYSF):c.3968C>A (p.Thr1323Lys) rs116426399 0.00200
NM_001164508.2(NEB):c.3593A>G (p.Asn1198Ser) rs146616621 0.00200
NM_001199107.2(TBC1D24):c.441C>T (p.Asp147=) rs149371169 0.00200
NM_001848.3(COL6A1):c.1298G>A (p.Arg433Gln) rs151158105 0.00200
NM_003072.5(SMARCA4):c.4768+10G>A rs201665695 0.00200
NM_003482.4(KMT2D):c.6752C>T (p.Ser2251Leu) rs189199944 0.00200
NM_015102.5(NPHP4):c.2882G>A (p.Arg961His) rs183885357 0.00200
NM_201384.3(PLEC):c.5653G>A (p.Ala1885Thr) rs201070741 0.00200
NM_000329.3(RPE65):c.675C>G (p.Ile225Met) rs114379164 0.00199
NM_133379.5(TTN):c.10917C>T (p.Gly3639=) rs140804168 0.00199
NM_000363.5(TNNI3):c.273G>A (p.Ala91=) rs75491697 0.00198
NM_001374385.1(ATP8B1):c.189A>G (p.Thr63=) rs35377845 0.00198
NM_001378120.1(MBD5):c.2030G>A (p.Ser677Asn) rs114314967 0.00198
NM_001844.5(COL2A1):c.2046C>T (p.Asp682=) rs41263851 0.00198
NM_002976.4(SCN7A):c.2048G>A (p.Arg683Gln) rs116825611 0.00198
NM_004006.3(DMD):c.10087-20C>T rs41303187 0.00198
NM_004958.4(MTOR):c.663C>G (p.Thr221=) rs112439072 0.00198
NM_006129.5(BMP1):c.1170G>T (p.Ala390=) rs76021885 0.00198
NM_000080.4(CHRNE):c.1425C>T (p.Leu475=) rs151193377 0.00197
NM_001267550.2(TTN):c.105127C>T (p.Arg35043Cys) rs200378865 0.00197
NM_001371623.1(TCOF1):c.3426C>T (p.Ser1142=) rs138291748 0.00197
NM_004813.4(PEX16):c.*10C>T rs201127195 0.00197
NM_181303.2(NLGN3):c.1954A>G (p.Thr652Ala) rs144914894 0.00197
NM_000053.4(ATP7B):c.3060+16G>T rs76163470 0.00196
NM_001015880.2(PAPSS2):c.861A>G (p.Leu287=) rs150727538 0.00196
NM_001330260.2(SCN8A):c.141C>T (p.Asp47=) rs149013279 0.00196
NM_003722.5(TP63):c.399C>T (p.Pro133=) rs145730343 0.00196
NM_017739.4(POMGNT1):c.236-13T>C rs150578902 0.00196
NM_054027.6(ANKH):c.102G>A (p.Leu34=) rs116591972 0.00196
NM_001848.3(COL6A1):c.2250+6G>C rs202212586 0.00195
NM_001852.4(COL9A2):c.312C>T (p.Pro104=) rs144072834 0.00195
NM_003482.4(KMT2D):c.12913G>A (p.Val4305Ile) rs199895011 0.00195
NM_003482.4(KMT2D):c.5220C>T (p.Ala1740=) rs200369026 0.00195
NM_004006.3(DMD):c.2380+11G>A rs183120304 0.00195
NM_006790.3(MYOT):c.822T>C (p.Ser274=) rs138678049 0.00195
NM_032119.4(ADGRV1):c.10126A>G (p.Ile3376Val) rs200528472 0.00195
NM_000168.6(GLI3):c.2424A>G (p.Ile808Met) rs62622373 0.00194
NM_000388.4(CASR):c.2730C>A (p.Pro910=) rs34200949 0.00194
NM_000719.7(CACNA1C):c.4829-7G>A rs137904817 0.00194
NM_001134831.2(AHI1):c.3039G>A (p.Gln1013=) rs142381345 0.00194
NM_001364905.1(LRBA):c.*9G>T rs150102345 0.00194
NM_001848.3(COL6A1):c.324C>T (p.Gly108=) rs138646508 0.00194
NM_002335.4(LRP5):c.1968C>T (p.His656=) rs144847027 0.00194
NM_014795.4(ZEB2):c.807+3G>C rs144925893 0.00194
NM_152564.5(VPS13B):c.11619G>C (p.Val3873=) rs113454700 0.00194
NM_181486.4(TBX5):c.114C>T (p.Ser38=) rs34014008 0.00194
NM_182961.4(SYNE1):c.23461-6A>C rs145098375 0.00194
NM_207361.6(FREM2):c.84C>G (p.Pro28=) rs141718695 0.00194
NM_000429.3(MAT1A):c.789C>T (p.Gly263=) rs61734475 0.00193
NM_000642.3(AGL):c.3203A>G (p.Tyr1068Cys) rs147165298 0.00193
NM_001128225.3(SLC39A13):c.539C>G (p.Ala180Gly) rs147227015 0.00193
NM_001142800.2(EYS):c.1985G>T (p.Arg662Met) rs144430026 0.00193
NM_001267550.2(TTN):c.98439G>A (p.Val32813=) rs368487246 0.00193
NM_002473.6(MYH9):c.3485+8C>T rs149559551 0.00193
NM_024757.5(EHMT1):c.480C>T (p.Gly160=) rs150135875 0.00193
NM_000053.4(ATP7B):c.3889G>A (p.Val1297Ile) rs148399850 0.00192
NM_000093.5(COL5A1):c.378G>T (p.Gln126His) rs145178917 0.00192
NM_001267550.2(TTN):c.34769A>G (p.Glu11590Gly) rs201167067 0.00192
NM_004813.4(PEX16):c.204G>T (p.Glu68Asp) rs149348130 0.00192
NM_000059.4(BRCA2):c.231T>G (p.Thr77=) rs114446594 0.00191
NM_000392.5(ABCC2):c.159A>G (p.Lys53=) rs17222596 0.00191
NM_001034853.2(RPGR):c.732G>A (p.Lys244=) rs62638654 0.00191
NM_005477.3(HCN4):c.3587G>A (p.Arg1196His) rs147181577 0.00191
NM_015909.4(NBAS):c.5090G>T (p.Arg1697Leu) rs145318018 0.00191
NM_021072.4(HCN1):c.2172C>T (p.Ala724=) rs56217199 0.00191
NM_058246.4(DNAJB6):c.279C>T (p.Phe93=) rs149278319 0.00191
NM_000318.3(PEX2):c.91C>G (p.Gln31Glu) rs149287302 0.00190
NM_000363.5(TNNI3):c.550-10C>T rs201240150 0.00190
NM_000551.4(VHL):c.340+5G>C rs61758376 0.00190
NM_001127649.3(PEX26):c.325T>C (p.Tyr109His) rs45567240 0.00190
NM_001164508.2(NEB):c.10452+9A>G rs117270796 0.00190
NM_001164508.2(NEB):c.11004G>A (p.Thr3668=) rs117018177 0.00190
NM_005045.4(RELN):c.8120-9T>C rs74952625 0.00190
NM_022436.3(ABCG5):c.293C>G (p.Ala98Gly) rs145164937 0.00190
NM_022455.5(NSD1):c.1149C>T (p.Ile383=) rs34921128 0.00190
NM_024757.5(EHMT1):c.3735C>T (p.Arg1245=) rs141797498 0.00190
NM_170682.4(P2RX2):c.831G>A (p.Ser277=) rs114365804 0.00190
NM_206933.4(USH2A):c.3621C>T (p.Ile1207=) rs146462407 0.00190
NM_000414.4(HSD17B4):c.281-7A>G rs35201279 0.00189
NM_001110792.2(MECP2):c.618C>T (p.Ser206=) rs61749711 0.00189
NM_001291867.2(NHS):c.3545C>T (p.Pro1182Leu) rs145977627 0.00189
NM_001360.3(DHCR7):c.321+10C>T rs377108406 0.00189
NM_001927.4(DES):c.324G>A (p.Glu108=) rs138677215 0.00189
NM_000071.3(CBS):c.954+8G>A rs76292057 0.00188
NM_001267550.2(TTN):c.19738C>T (p.Pro6580Ser) rs116572520 0.00188
NM_001267550.2(TTN):c.4328T>C (p.Leu1443Pro) rs142317580 0.00188
NM_001278116.2(L1CAM):c.3519C>T (p.Phe1173=) rs142277193 0.00188
NM_001371623.1(TCOF1):c.1028G>A (p.Ser343Asn) rs144327167 0.00188
NM_001854.4(COL11A1):c.3979-3T>C rs138464908 0.00188
NM_005122.5(NR1I3):c.289C>T (p.Arg97Trp) rs34161743 0.00188
NM_015102.5(NPHP4):c.2868C>T (p.Ala956=) rs138025088 0.00188
NM_020779.4(WDR35):c.2566G>T (p.Val856Phe) rs149667250 0.00188
NM_022455.5(NSD1):c.7850T>C (p.Leu2617Ser) rs77618751 0.00188
NM_024426.6(WT1):c.123G>C (p.Pro41=) rs555140661 0.00188
NM_152296.5(ATP1A3):c.154-5C>G rs191645384 0.00188
NM_152384.3(BBS5):c.750C>T (p.Ile250=) rs76138485 0.00188
NM_002473.6(MYH9):c.165C>T (p.Ile55=) rs141948797 0.00187
NM_005957.5(MTHFR):c.1959G>A (p.Thr653=) rs45572531 0.00187
NM_017780.4(CHD7):c.8439C>T (p.Gly2813=) rs201132710 0.00187
NM_018965.4(TREM2):c.469C>T (p.His157Tyr) rs2234255 0.00187
NM_152384.3(BBS5):c.584A>G (p.Asp195Gly) rs143191074 0.00187
NM_000334.4(SCN4A):c.2722G>A (p.Glu908Lys) rs117664682 0.00186
NM_001384732.1(CPLANE1):c.5738-6C>T rs148634159 0.00186
NM_014795.4(ZEB2):c.3471C>T (p.Asp1157=) rs149526010 0.00186
NM_024740.2(ALG9):c.1538C>T (p.Pro513Leu) rs185149177 0.00186
NM_133433.4(NIPBL):c.7830G>C (p.Val2610=) rs115668015 0.00186
NM_000350.3(ABCA4):c.3626T>C (p.Met1209Thr) rs76258939 0.00185
NM_000390.4(CHM):c.311C>G (p.Ala104Gly) rs11539374 0.00185
NM_000532.5(PCCB):c.184-12G>T rs181283691 0.00185
NM_001330260.2(SCN8A):c.2632C>T (p.Leu878=) rs372582842 0.00185
NM_001349338.3(FOXP1):c.1702C>T (p.Pro568Ser) rs147674680 0.00185
NM_005477.3(HCN4):c.3350C>T (p.Pro1117Leu) rs140402087 0.00185
NM_005529.7(HSPG2):c.2326G>A (p.Val776Met) rs145476116 0.00185
NM_006005.3(WFS1):c.2596G>A (p.Asp866Asn) rs3821945 0.00185
NM_020822.3(KCNT1):c.3690C>T (p.Arg1230=) rs141521745 0.00185
NM_022124.6(CDH23):c.10026C>T (p.Asp3342=) rs377118941 0.00185
NM_080680.3(COL11A2):c.2115+7T>C rs186051366 0.00185
NM_001267550.2(TTN):c.18856G>A (p.Val6286Ile) rs149131555 0.00184
NM_003611.3(OFD1):c.1654+8A>G rs200767363 0.00184
NM_001083961.2(WDR62):c.4338C>T (p.Thr1446=) rs149289227 0.00183
NM_001164508.2(NEB):c.25542C>T (p.Thr8514=) rs3821324 0.00183
NM_001330260.2(SCN8A):c.4278G>A (p.Arg1426=) rs143867796 0.00183
NM_001378414.1(HDAC4):c.684G>A (p.Pro228=) rs144387989 0.00183
NM_006306.4(SMC1A):c.3450C>T (p.Ala1150=) rs142611198 0.00183
NM_007294.4(BRCA1):c.2814A>G (p.Pro938=) rs80356851 0.00183
NM_017950.4(CCDC40):c.180G>A (p.Ala60=) rs185006459 0.00183
NM_024757.5(EHMT1):c.3016G>A (p.Val1006Met) rs33999936 0.00183
NM_032119.4(ADGRV1):c.15343C>T (p.Leu5115=) rs41304886 0.00183
NM_201384.3(PLEC):c.4873G>A (p.Glu1625Lys) rs187338487 0.00183
NM_000059.4(BRCA2):c.1792A>G (p.Thr598Ala) rs28897710 0.00182
NM_000719.7(CACNA1C):c.5665C>T (p.Arg1889Cys) rs185788586 0.00182
NM_001083962.2(TCF4):c.73-3T>C rs148658897 0.00182
NM_002335.4(LRP5):c.4380C>T (p.Ser1460=) rs11574420 0.00182
NM_006796.3(AFG3L2):c.1664-9T>C rs200476229 0.00182
NM_000443.4(ABCB4):c.-1G>A rs45449704 0.00181
NM_001164508.2(NEB):c.19285G>A (p.Ala6429Thr) rs149752325 0.00181
NM_001267550.2(TTN):c.14765G>A (p.Ser4922Asn) rs184740744 0.00181
NM_001374353.1(GLI2):c.3477G>T (p.Gln1159His) rs139686081 0.00181
NM_001378414.1(HDAC4):c.2371G>A (p.Ala791Thr) rs61754648 0.00181
NM_007254.4(PNKP):c.1433T>G (p.Val478Gly) rs3739206 0.00181
NM_015295.3(SMCHD1):c.4104C>T (p.Pro1368=) rs117794949 0.00181
NM_182914.3(SYNE2):c.20197G>A (p.Glu6733Lys) rs150172232 0.00181
NM_000286.3(PEX12):c.451C>T (p.Arg151Cys) rs138731505 0.00180
NM_001853.4(COL9A3):c.1726G>A (p.Ala576Thr) rs116005499 0.00180
NM_005529.7(HSPG2):c.4437G>A (p.Glu1479=) rs141463803 0.00180
NM_006662.3(SRCAP):c.132C>T (p.Gly44=) rs149628651 0.00180
NM_000088.4(COL1A1):c.3531+10C>A rs41316721 0.00179
NM_001127453.2(GSDME):c.658G>A (p.Gly220Ser) rs140666247 0.00179
NM_001369.3(DNAH5):c.3363T>G (p.Ser1121=) rs58266192 0.00179
NM_001918.5(DBT):c.753C>T (p.Asp251=) rs79292123 0.00179
NM_130837.3(OPA1):c.1236A>G (p.Ala412=) rs150807064 0.00179
NM_153638.4(PANK2):c.-11G>A rs71647826 0.00179
NM_000327.4(ROM1):c.812T>C (p.Met271Thr) rs137950927 0.00178
NM_001083962.2(TCF4):c.1419G>C (p.Pro473=) rs143944746 0.00178
NM_001161352.2(KCNMA1):c.413C>T (p.Ala138Val) rs144215383 0.00178
NM_001164508.2(NEB):c.19286C>A (p.Ala6429Asp) rs139636644 0.00178
NM_005787.6(ALG3):c.1271C>T (p.Pro424Leu) rs79144888 0.00178
NM_006059.4(LAMC3):c.1630+5C>G rs184221540 0.00178
NM_032119.4(ADGRV1):c.14515C>G (p.Gln4839Glu) rs79464236 0.00178
NM_182914.3(SYNE2):c.8041G>A (p.Val2681Ile) rs150946074 0.00178
NM_000256.3(MYBPC3):c.1519G>A (p.Gly507Arg) rs35736435 0.00177
NM_001369268.1(ACAN):c.4347C>T (p.Ser1449=) rs60790354 0.00177
NM_001374353.1(GLI2):c.1935G>A (p.Ser645=) rs114259687 0.00177
NM_004380.3(CREBBP):c.1149G>A (p.Pro383=) rs61759495 0.00177
NM_016239.4(MYO15A):c.9754A>G (p.Asn3252Asp) rs147458358 0.00177
NM_017780.4(CHD7):c.1179A>G (p.Pro393=) rs111238892 0.00177
NM_000093.5(COL5A1):c.2695G>A (p.Gly899Ser) rs149964491 0.00176
NM_000297.4(PKD2):c.1445T>G (p.Phe482Cys) rs75762896 0.00176
NM_001161352.2(KCNMA1):c.2484+7G>A rs13377017 0.00176
NM_001614.5(ACTG1):c.985-5T>C rs370546734 0.00176
NM_006516.4(SLC2A1):c.27G>A (p.Thr9=) rs34025424 0.00176
NM_018418.5(SPATA7):c.729C>T (p.Arg243=) rs151338404 0.00176
NM_022124.6(CDH23):c.6713-8G>A rs369946986 0.00176
NM_031433.4(MFRP):c.773-9C>T rs187321874 0.00176
NM_000443.4(ABCB4):c.1893+6T>C rs8187798 0.00175
NM_001130438.3(SPTAN1):c.3051G>A (p.Pro1017=) rs140279996 0.00175
NM_001130438.3(SPTAN1):c.6234C>T (p.Ala2078=) rs147132904 0.00175
NM_001165963.4(SCN1A):c.4548G>A (p.Ser1516=) rs78041051 0.00175
NM_001368894.2(PAX6):c.130C>A (p.Arg44=) rs141873759 0.00175
NM_001384732.1(CPLANE1):c.1411C>G (p.Leu471Val) rs139940282 0.00175
NM_004999.4(MYO6):c.2635G>A (p.Asp879Asn) rs60970824 0.00175
NM_005529.7(HSPG2):c.959-5C>T rs149574138 0.00175
NM_018941.4(CLN8):c.11C>T (p.Ala4Val) rs147181589 0.00175
NM_000093.5(COL5A1):c.277+6T>G rs201910803 0.00174
NM_001854.4(COL11A1):c.52A>T (p.Thr18Ser) rs114630202 0.00174
NM_004560.4(ROR2):c.2083G>A (p.Gly695Arg) rs34431454 0.00174
NM_133642.5(LARGE1):c.1644C>T (p.Asn548=) rs113253213 0.00174
NM_000726.5(CACNB4):c.324C>T (p.Asp108=) rs147647355 0.00173
NM_001458.5(FLNC):c.7091G>A (p.Arg2364His) rs201672146 0.00173
NM_001849.4(COL6A2):c.3017C>T (p.Ala1006Val) rs113169531 0.00173
NM_004086.3(COCH):c.1026C>T (p.Tyr342=) rs28362777 0.00173
NM_006486.3(FBLN1):c.1209C>T (p.Cys403=) rs140586412 0.00173
NM_018979.4(WNK1):c.3582G>A (p.Glu1194=) rs72650721 0.00173
NM_144508.5(KNL1):c.5271C>T (p.Cys1757=) rs191249840 0.00173
NM_182961.4(SYNE1):c.20646G>A (p.Ser6882=) rs138628147 0.00173
NM_000370.3(TTPA):c.24C>G (p.Pro8=) rs140010311 0.00172
NM_000532.5(PCCB):c.49C>A (p.Leu17Met) rs200185747 0.00172
NM_001267550.2(TTN):c.35264A>C (p.Lys11755Thr) rs189966800 0.00172
NM_001429.4(EP300):c.5259C>T (p.Cys1753=) rs148040990 0.00172
NM_020754.4(ARHGAP31):c.1618A>G (p.Lys540Glu) rs61744410 0.00172
NM_021625.5(TRPV4):c.649G>T (p.Ala217Ser) rs187864727 0.00172
NM_207361.6(FREM2):c.4686T>C (p.Asp1562=) rs17058435 0.00172
NM_000030.3(AGXT):c.836T>C (p.Ile279Thr) rs140992177 0.00171
NM_000900.5(MGP):c.23C>T (p.Ala8Val) rs142330429 0.00171
NM_001164508.2(NEB):c.23599A>C (p.Lys7867Gln) rs118191309 0.00171
NM_153252.5(BRWD3):c.769G>A (p.Val257Ile) rs112829587 0.00171
NM_201384.3(PLEC):c.1042-4A>G rs112966803 0.00171
NM_000059.4(BRCA2):c.1798T>C (p.Tyr600His) rs75419644 0.00170
NM_000152.5(GAA):c.258C>A (p.Pro86=) rs146615896 0.00170
NM_000194.3(HPRT1):c.480C>T (p.Val160=) rs148780933 0.00170
NM_000235.4(LIPA):c.756A>C (p.Ile252=) rs145037134 0.00170
NM_001083961.2(WDR62):c.2016C>T (p.Asp672=) rs114968951 0.00170
NM_001457.4(FLNB):c.6684C>T (p.Ile2228=) rs138416613 0.00170
NM_022124.6(CDH23):c.5753G>A (p.Arg1918Gln) rs115113440 0.00170
NM_022367.4(SEMA4A):c.1529G>A (p.Arg510Gln) rs2075164 0.00170
NM_080632.3(UPF3B):c.1121G>A (p.Arg374His) rs143538947 0.00170
NM_152564.5(VPS13B):c.10052A>T (p.Asn3351Ile) rs111353525 0.00170
NM_000051.4(ATM):c.5071A>C (p.Ser1691Arg) rs1800059 0.00169
NM_000282.4(PCCA):c.1284+16G>A rs113610934 0.00169
NM_001853.4(COL9A3):c.468C>T (p.Pro156=) rs137979802 0.00169
NM_006996.3(SLC19A2):c.1322T>C (p.Ile441Thr) rs17847484 0.00169
NM_020717.5(SHROOM4):c.2192A>G (p.Glu731Gly) rs144727288 0.00169
NM_133379.5(TTN):c.14820G>A (p.Val4940=) rs145029589 0.00169
NM_000314.8(PTEN):c.132C>T (p.Gly44=) rs150651961 0.00168
NM_001927.4(DES):c.792C>T (p.Asp264=) rs150370918 0.00168
NM_005634.3(SOX3):c.77T>C (p.Ile26Thr) rs142709662 0.00168
NM_012254.3(SLC27A5):c.1125C>T (p.Gly375=) rs144295671 0.00168
NM_177965.4(CFAP418):c.126G>C (p.Arg42=) rs115853053 0.00168
NM_001848.3(COL6A1):c.1833C>T (p.Cys611=) rs142554239 0.00167
NM_017780.4(CHD7):c.5754T>C (p.Thr1918=) rs61746542 0.00167
NM_001040142.2(SCN2A):c.3453C>T (p.Pro1151=) rs145662546 0.00166
NM_001077365.2(POMT1):c.2115G>A (p.Ser705=) rs76092524 0.00166
NM_001164508.2(NEB):c.4466G>A (p.Gly1489Asp) rs74482326 0.00166
NM_001277115.2(DNAH11):c.10976C>T (p.Ala3659Val) rs150631721 0.00166
NM_001330078.2(NRXN1):c.2385C>G (p.Pro795=) rs147984237 0.00166
NM_001379110.1(SLC9A6):c.1637G>A (p.Arg546Gln) rs146263125 0.00166
NM_001379286.1(ZNF423):c.87C>T (p.Ser29=) rs116537749 0.00166
NM_002693.3(POLG):c.1837C>T (p.His613Tyr) rs147407423 0.00166
NM_003106.4(SOX2):c.834C>T (p.Leu278=) rs144530684 0.00166
NM_005477.3(HCN4):c.1978+3G>T rs113112855 0.00166
NM_172107.4(KCNQ2):c.303C>G (p.Leu101=) rs145415996 0.00166
NM_000368.5(TSC1):c.1726T>C (p.Leu576=) rs118203567 0.00165
NM_001164508.2(NEB):c.21720C>T (p.Tyr7240=) rs34718443 0.00165
NM_001164508.2(NEB):c.4206T>A (p.Asn1402Lys) rs201169452 0.00165
NM_007294.4(BRCA1):c.21C>T (p.Arg7=) rs149402012 0.00165
NM_001101426.4(CRPPA):c.1220T>C (p.Leu407Ser) rs141625803 0.00164
NM_001164508.2(NEB):c.3639C>T (p.Val1213=) rs74320183 0.00164
NM_005633.4(SOS1):c.3032A>G (p.Asn1011Ser) rs8192671 0.00164
NM_033337.2(CAV3):c.216C>G (p.Cys72Trp) rs116840776 0.00164
NM_000388.4(CASR):c.748G>A (p.Glu250Lys) rs62269092 0.00163
NM_000719.7(CACNA1C):c.4624-9C>T rs377568567 0.00163
NM_001848.3(COL6A1):c.2517C>T (p.Ser839=) rs141463437 0.00163
NM_002181.4(IHH):c.618C>T (p.Ala206=) rs3731879 0.00163
NM_005477.3(HCN4):c.1518C>T (p.Tyr506=) rs139590882 0.00163
NM_014112.5(TRPS1):c.1195C>T (p.Leu399Phe) rs147432147 0.00163
NM_015102.5(NPHP4):c.4179T>A (p.Phe1393Leu) rs35641267 0.00163
NM_182961.4(SYNE1):c.23002C>G (p.Leu7668Val) rs150589796 0.00163
NM_000036.3(AMPD1):c.334G>A (p.Val112Met) rs61741025 0.00162
NM_001159699.2(FHL1):c.489C>T (p.Asp163=) rs149670651 0.00162
NM_004006.3(DMD):c.1483-7C>G rs112463388 0.00162
NM_001130987.2(DYSF):c.429C>T (p.Ser143=) rs115390288 0.00161
NM_001457.4(FLNB):c.6642C>T (p.Phe2214=) rs140786324 0.00161
NM_000350.3(ABCA4):c.4283C>T (p.Thr1428Met) rs1800549 0.00160
NM_001159773.2(CANT1):c.1134G>A (p.Thr378=) rs35324359 0.00160
NM_005422.4(TECTA):c.1834G>A (p.Asp612Asn) rs143730090 0.00160
NM_006201.5(CDK16):c.1376-10C>T rs200767933 0.00160
NM_006922.4(SCN3A):c.2118G>A (p.Val706=) rs143450450 0.00160
NM_017780.4(CHD7):c.5757C>G (p.Ala1919=) rs79203206 0.00160
NM_000251.3(MSH2):c.1277-8T>C rs145400590 0.00159
NM_001165963.4(SCN1A):c.3804T>C (p.Leu1268=) rs143980709 0.00159
NM_001378615.1(CC2D2A):c.2050T>A (p.Leu684Ile) rs190698163 0.00159
NM_001844.5(COL2A1):c.3003+9G>A rs200403247 0.00159
NM_003482.4(KMT2D):c.10993C>G (p.Pro3665Ala) rs112170602 0.00159
NM_020822.3(KCNT1):c.3239G>T (p.Gly1080Val) rs200250181 0.00159
NM_000179.3(MSH6):c.431G>T (p.Ser144Ile) rs3211299 0.00158
NM_000314.8(PTEN):c.1104T>C (p.Asp368=) rs35979531 0.00158
NM_000321.3(RB1):c.380+10C>G rs187110786 0.00158
NM_000383.4(AIRE):c.1567-5C>T rs192215705 0.00158
NM_001130987.2(DYSF):c.1626C>T (p.Asn542=) rs139495331 0.00158
NM_001235.5(SERPINH1):c.721+9T>C rs138193444 0.00158
NM_001367624.2(ZNF469):c.8076G>A (p.Pro2692=) rs149200506 0.00158
NM_001999.4(FBN2):c.2940C>T (p.Cys980=) rs143255082 0.00158
NM_001999.4(FBN2):c.5448A>G (p.Pro1816=) rs138022198 0.00158
NM_005122.5(NR1I3):c.978C>T (p.Tyr326=) rs79799851 0.00158
NM_007294.4(BRCA1):c.1137T>G (p.Ile379Met) rs56128296 0.00158
NM_013382.7(POMT2):c.1881G>A (p.Ala627=) rs146588608 0.00158
NM_138694.4(PKHD1):c.7942G>A (p.Gly2648Ser) rs139555370 0.00158
NM_170707.4(LMNA):c.1851C>T (p.Ala617=) rs143189394 0.00158
NM_201384.3(PLEC):c.3210G>A (p.Thr1070=) rs375699173 0.00158
NM_001110792.2(MECP2):c.1071A>G (p.Lys357=) rs61752362 0.00157
NM_001297.5(CNGB1):c.1204G>A (p.Asp402Asn) rs140907154 0.00157
NM_002900.3(RBP3):c.2168C>T (p.Pro723Leu) rs148247227 0.00157
NM_003995.4(NPR2):c.64G>T (p.Ala22Ser) rs140014632 0.00157
NM_004817.4(TJP2):c.3342T>C (p.His1114=) rs61753629 0.00157
NM_015272.5(RPGRIP1L):c.2643T>A (p.Asn881Lys) rs139503476 0.00157
NM_182914.3(SYNE2):c.7898A>G (p.Asn2633Ser) rs190582637 0.00157
NM_201384.3(PLEC):c.6507G>A (p.Lys2169=) rs199866902 0.00157
NM_001110556.2(FLNA):c.1429+8C>T rs202181557 0.00156
NM_002335.4(LRP5):c.2295G>A (p.Ser765=) rs140955013 0.00156
NM_005633.4(SOS1):c.2988G>A (p.Pro996=) rs35462677 0.00156
NM_020800.3(IFT80):c.897G>A (p.Val299=) rs145776235 0.00156
NM_053025.4(MYLK):c.4289-4C>G rs376670657 0.00156
NM_182961.4(SYNE1):c.7433C>G (p.Ser2478Cys) rs149030452 0.00156
NM_000095.3(COMP):c.2262G>A (p.Leu754=) rs150428337 0.00155
NM_000368.5(TSC1):c.1701G>A (p.Ala567=) rs35478675 0.00155
NM_001235.5(SERPINH1):c.267G>A (p.Thr89=) rs139127426 0.00155
NM_005450.6(NOG):c.68C>T (p.Thr23Ile) rs138776675 0.00155
NM_018136.5(ASPM):c.1385A>G (p.Tyr462Cys) rs143294539 0.00155
NM_033380.3(COL4A5):c.3148C>T (p.Pro1050Ser) rs143945573 0.00155
NM_001848.3(COL6A1):c.2635A>G (p.Ser879Gly) rs140534207 0.00154
NM_001918.5(DBT):c.175+37G>A rs76902654 0.00154
NM_007254.4(PNKP):c.636+7G>A rs3739187 0.00154
NM_020754.4(ARHGAP31):c.2344C>A (p.Pro782Thr) rs139659618 0.00154
NM_152564.5(VPS13B):c.5905A>G (p.Ile1969Val) rs139640224 0.00154
NM_000245.4(MET):c.654G>A (p.Arg218=) rs35284565 0.00153
NM_000744.7(CHRNA4):c.1758+16G>A rs113109615 0.00153
NM_001077365.2(POMT1):c.2168G>A (p.Arg723Gln) rs144051476 0.00153
NM_001127222.2(CACNA1A):c.1614C>T (p.Tyr538=) rs182505786 0.00153
NM_001540.5(HSPB1):c.178C>T (p.Pro60Ser) rs61751217 0.00153
NM_004006.3(DMD):c.8571T>C (p.Thr2857=) rs72466570 0.00153
NM_017780.4(CHD7):c.712G>A (p.Val238Met) rs200898742 0.00153
NM_023110.3(FGFR1):c.336C>T (p.Thr112=) rs148480919 0.00153
NM_000744.7(CHRNA4):c.1460G>A (p.Arg487Gln) rs121912280 0.00152
NM_001032221.6(STXBP1):c.1548C>T (p.Ser516=) rs145304925 0.00152
NM_003049.4(SLC10A1):c.453G>A (p.Lys151=) rs61329727 0.00152
NM_003482.4(KMT2D):c.10256A>G (p.Asp3419Gly) rs146044282 0.00152
NM_017780.4(CHD7):c.7278G>A (p.Gln2426=) rs187311127 0.00152
NM_001184880.2(PCDH19):c.3280C>G (p.Leu1094Val) rs184545774 0.00151
NM_001377.3(DYNC2H1):c.9749A>G (p.Gln3250Arg) rs140830294 0.00151
NM_007126.5(VCP):c.79A>G (p.Ile27Val) rs140913250 0.00151
NM_007317.3(KIF22):c.1506G>A (p.Glu502=) rs111981375 0.00151
NM_016239.4(MYO15A):c.10573A>G (p.Ser3525Gly) rs182332665 0.00151
NM_133379.5(TTN):c.15228C>A (p.Pro5076=) rs143135505 0.00151
NM_198859.4(PRICKLE2):c.1035C>G (p.Gly345=) rs34084584 0.00151
NM_000271.5(NPC1):c.3331C>T (p.Leu1111=) rs151125564 0.00150
NM_000742.4(CHRNA2):c.1500C>T (p.Ile500=) rs143223159 0.00150
NM_001035.3(RYR2):c.2301G>T (p.Ser767=) rs117588730 0.00150
NM_001101.5(ACTB):c.168C>T (p.Asp56=) rs13447398 0.00150
NM_001110792.2(MECP2):c.638C>T (p.Ala213Val) rs61748381 0.00150
NM_001134407.3(GRIN2A):c.1251C>T (p.Val417=) rs139329447 0.00150
NM_001365951.3(KIF1B):c.4596C>T (p.Pro1532=) rs147066476 0.00150
NM_001551.3(IGBP1):c.317G>A (p.Arg106Gln) rs143163513 0.00150
NM_004004.6(GJB2):c.249C>G (p.Phe83Leu) rs111033218 0.00150
NM_024757.5(EHMT1):c.354T>G (p.Ser118=) rs142271310 0.00150
NM_001371623.1(TCOF1):c.2088T>G (p.Ser696Arg) rs140334121 0.00149
NM_001384140.1(PCDH15):c.3018G>T (p.Val1006=) rs41307518 0.00149
NM_006031.6(PCNT):c.4354G>A (p.Gly1452Arg) rs143796569 0.00149
NM_014363.6(SACS):c.810T>G (p.Phe270Leu) rs116907814 0.00149
NM_153026.3(PRICKLE1):c.177C>T (p.Tyr59=) rs144843013 0.00149
NM_000492.4(CFTR):c.1393-42G>A rs34906874 0.00148
NM_000726.5(CACNB4):c.1413G>A (p.Arg471=) rs1805029 0.00148
NM_001164508.2(NEB):c.914A>G (p.Asp305Gly) rs36105240 0.00148
NM_001378452.1(ITPR1):c.2007-3T>C rs200335594 0.00148
NM_001849.4(COL6A2):c.2558G>A (p.Arg853Gln) rs144830948 0.00148
NM_006182.4(DDR2):c.1509C>T (p.Cys503=) rs144293078 0.00148
NM_013382.7(POMT2):c.1683T>C (p.Asn561=) rs146307965 0.00148
NM_017617.5(NOTCH1):c.1122C>T (p.Asp374=) rs192683347 0.00148
NM_001298.3(CNGA3):c.198C>T (p.Thr66=) rs139544302 0.00147
NM_001966.4(EHHADH):c.302G>A (p.Gly101Glu) rs142339349 0.00147
NM_007294.4(BRCA1):c.2109A>G (p.Thr703=) rs4986844 0.00147
NM_133433.4(NIPBL):c.294C>T (p.Ala98=) rs142184978 0.00147
NM_000059.4(BRCA2):c.3515C>T (p.Ser1172Leu) rs80358600 0.00146
NM_000843.4(GRM6):c.1732C>T (p.Arg578Cys) rs62638210 0.00146
NM_001164508.2(NEB):c.2318A>G (p.Tyr773Cys) rs77151072 0.00146
NM_006031.6(PCNT):c.467A>G (p.His156Arg) rs61735825 0.00146
NM_024757.5(EHMT1):c.148G>A (p.Ala50Thr) rs78104547 0.00146
NM_024757.5(EHMT1):c.2040G>A (p.Ser680=) rs150451099 0.00146
NM_201384.3(PLEC):c.12817C>T (p.Pro4273Ser) rs202040785 0.00146
NM_001101.5(ACTB):c.420A>G (p.Leu140=) rs13447405 0.00145
NM_001267550.2(TTN):c.23232C>G (p.Asn7744Lys) rs72648972 0.00145
NM_003742.4(ABCB11):c.1791G>T (p.Val597=) rs11568371 0.00145
NM_007294.4(BRCA1):c.4600G>A (p.Val1534Met) rs55815649 0.00145
NM_018006.5(TRMU):c.238G>A (p.Asp80Asn) rs55952751 0.00145
NM_022455.5(NSD1):c.760C>T (p.Leu254Phe) rs149334244 0.00145
NM_172107.4(KCNQ2):c.570C>T (p.Asn190=) rs116087798 0.00145
NM_000156.6(GAMT):c.392-7C>T rs192416474 0.00144
NM_000335.5(SCN5A):c.3919C>T (p.Leu1307Phe) rs41313031 0.00144
NM_001182.5(ALDH7A1):c.373A>G (p.Ile125Val) rs117295656 0.00144
NM_001267550.2(TTN):c.85406C>G (p.Ser28469Cys) rs202040332 0.00144
NM_004281.4(BAG3):c.1587C>T (p.Ala529=) rs149358702 0.00144
NM_016203.4(PRKAG2):c.298G>A (p.Gly100Ser) rs79474211 0.00144
NM_017780.4(CHD7):c.1419G>C (p.Gly473=) rs186394299 0.00144
NM_152564.5(VPS13B):c.2760A>G (p.Leu920=) rs138661755 0.00144
NM_001130987.2(DYSF):c.6180C>T (p.Pro2060=) rs147263499 0.00143
NM_001267550.2(TTN):c.37432C>T (p.Pro12478Ser) rs200992277 0.00143
NM_004004.6(GJB2):c.380G>A (p.Arg127His) rs111033196 0.00143
NM_004187.5(KDM5C):c.2823A>G (p.Ser941=) rs143955805 0.00143
NM_020822.3(KCNT1):c.2892C>T (p.Phe964=) rs146904895 0.00143
NM_000142.5(FGFR3):c.678C>T (p.Tyr226=) rs141575580 0.00142
NM_000548.5(TSC2):c.1276C>T (p.Leu426=) rs45478593 0.00142
NM_004385.5(VCAN):c.1864T>C (p.Trp622Arg) rs147152203 0.00142
NM_019066.5(MAGEL2):c.2074G>A (p.Val692Ile) rs200926181 0.00142
NM_001110556.2(FLNA):c.7506C>T (p.Gly2502=) rs200195310 0.00141
NM_001127255.2(NLRP7):c.2095G>A (p.Val699Ile) rs77072552 0.00141
NM_001365536.1(SCN9A):c.3675C>A (p.Ile1225=) rs77144869 0.00141
NM_005765.3(ATP6AP2):c.1050T>C (p.Asp350=) rs79790275 0.00141
NM_000512.5(GALNS):c.1462G>A (p.Val488Met) rs78127134 0.00140
NM_000540.3(RYR1):c.11141+7A>G rs78350770 0.00140
NM_000719.7(CACNA1C):c.5918G>A (p.Arg1973Gln) rs112414325 0.00140
NM_001029883.3(PCARE):c.2875G>A (p.Ala959Thr) rs192350796 0.00140
NM_007255.3(B4GALT7):c.411C>T (p.Phe137=) rs142951817 0.00140
NM_012470.4(TNPO3):c.2652C>T (p.Thr884=) rs149434536 0.00140
NM_014425.5(INVS):c.913G>A (p.Val305Ile) rs116438342 0.00140
NM_018100.4(EFHC1):c.1820A>G (p.Asn607Ser) rs115475262 0.00140
NM_133642.5(LARGE1):c.1008T>C (p.Asp336=) rs115076367 0.00140
NM_000089.4(COL1A2):c.3139G>A (p.Val1047Met) rs35820023 0.00139
NM_000314.8(PTEN):c.-9C>G rs11202592 0.00139
NM_000492.4(CFTR):c.4243-5C>T rs114402068 0.00138
NM_001330260.2(SCN8A):c.2098A>T (p.Ile700Leu) rs187153231 0.00138
NM_001458.5(FLNC):c.1577G>A (p.Arg526Gln) rs34932223 0.00138
NM_005634.3(SOX3):c.603G>A (p.Lys201=) rs138530785 0.00138
NM_182961.4(SYNE1):c.23713G>A (p.Glu7905Lys) rs148997223 0.00138
NM_000428.3(LTBP2):c.4905G>C (p.Leu1635=) rs144520047 0.00137
NM_001145809.2(MYH14):c.5573G>A (p.Arg1858His) rs11882073 0.00137
NM_001267550.2(TTN):c.48460+8C>T rs2288565 0.00137
NM_001374385.1(ATP8B1):c.3477C>T (p.Pro1159=) rs117182648 0.00137
NM_001374385.1(ATP8B1):c.3744C>A (p.Thr1248=) rs2271771 0.00137
NM_001379180.1(ESRRB):c.79A>G (p.Arg27Gly) rs143477571 0.00137
NM_005802.5(TOPORS):c.1730C>A (p.Ser577Tyr) rs79708790 0.00137
NM_007294.4(BRCA1):c.2521C>T (p.Arg841Trp) rs1800709 0.00137
NM_001458.5(FLNC):c.2501C>T (p.Thr834Met) rs75133741 0.00136
NM_004329.3(BMPR1A):c.1560G>A (p.Thr520=) rs142775086 0.00136
NM_203288.2(RP9):c.463G>A (p.Val155Ile) rs58377403 0.00136
NM_000137.4(FAH):c.921A>G (p.Gly307=) rs76338717 0.00135
NM_000292.3(PHKA2):c.742A>C (p.Arg248=) rs149219369 0.00135
NM_000325.6(PITX2):c.819G>A (p.Pro273=) rs148191851 0.00135
NM_001110556.2(FLNA):c.7222G>A (p.Gly2408Ser) rs201168500 0.00135
NM_001374385.1(ATP8B1):c.1729A>G (p.Ile577Val) rs3745078 0.00135
NM_001458.5(FLNC):c.6459C>T (p.Thr2153=) rs113618587 0.00135
NM_006019.4(TCIRG1):c.528C>A (p.Pro176=) rs538805960 0.00135
NM_014639.4(SKIC3):c.1427C>G (p.Thr476Arg) rs148648401 0.00135
NM_000088.4(COL1A1):c.1873G>A (p.Ala625Thr) rs149561221 0.00134
NM_000553.6(WRN):c.2950T>A (p.Leu984Ile) rs146443310 0.00134
NM_001267550.2(TTN):c.66702C>T (p.Ala22234=) rs371802557 0.00134
NM_025074.7(FRAS1):c.4958C>T (p.Pro1653Leu) rs6813102 0.00134
NM_182961.4(SYNE1):c.23480C>G (p.Ala7827Gly) rs141315921 0.00134
NM_000082.4(ERCC8):c.77+16C>T rs4647039 0.00133
NM_001267550.2(TTN):c.16621+7A>T rs10200398 0.00133
NM_001458.5(FLNC):c.6005-9T>C rs118124743 0.00133
NM_002133.3(HMOX1):c.330C>T (p.Ala110=) rs150515195 0.00133
NM_004586.3(RPS6KA3):c.2168G>A (p.Arg723His) rs144984628 0.00133
NM_022455.5(NSD1):c.2835T>C (p.Ser945=) rs145987330 0.00133
NM_032119.4(ADGRV1):c.3303A>G (p.Val1101=) rs80069610 0.00133
NM_052989.3(IFT122):c.1103G>A (p.Ser368Asn) rs150550701 0.00133
NM_182961.4(SYNE1):c.9489A>G (p.Gln3163=) rs35379711 0.00133
NM_019066.5(MAGEL2):c.1304C>T (p.Pro435Leu) rs2233062 0.00132
NM_020361.5(CPA6):c.1077G>A (p.Gln359=) rs143536122 0.00132
NM_001278116.2(L1CAM):c.396C>T (p.Ala132=) rs144708625 0.00131
NM_001848.3(COL6A1):c.2865C>T (p.Ile955=) rs138062080 0.00131
NM_004519.4(KCNQ3):c.1917C>T (p.Leu639=) rs78731303 0.00131
NM_024408.4(NOTCH2):c.6094C>A (p.His2032Asn) rs143236410 0.00131
NM_194318.4(B3GLCT):c.1064+10C>T rs143013995 0.00131
NM_002180.3(IGHMBP2):c.132C>T (p.Gly44=) rs78807992 0.00130
NM_020366.4(RPGRIP1):c.450C>G (p.Leu150=) rs144585562 0.00130
NM_000392.5(ABCC2):c.3026T>C (p.Ile1009Thr) rs57351269 0.00129
NM_000489.6(ATRX):c.4239A>G (p.Glu1413=) rs141974120 0.00129
NM_001267550.2(TTN):c.1137A>G (p.Arg379=) rs55972547 0.00129
NM_001267550.2(TTN):c.1938+10G>C rs190935632 0.00129
NM_002547.3(OPHN1):c.1839A>G (p.Glu613=) rs146588152 0.00129
NM_004004.6(GJB2):c.608T>C (p.Ile203Thr) rs76838169 0.00129
NM_006306.4(SMC1A):c.1545+4A>C rs377270943 0.00129
NM_000138.5(FBN1):c.3463+3A>G rs80344206 0.00128
NM_001110556.2(FLNA):c.1813G>A (p.Asp605Asn) rs201093148 0.00128
NM_001848.3(COL6A1):c.2866G>A (p.Glu956Lys) rs149534094 0.00128
NM_002180.3(IGHMBP2):c.2730C>G (p.Gly910=) rs139416105 0.00128
NM_003630.3(PEX3):c.1008T>C (p.Val336=) rs141932856 0.00128
NM_003630.3(PEX3):c.856C>A (p.Arg286=) rs147556993 0.00128
NM_006017.3(PROM1):c.868A>C (p.Ser290Arg) rs182096110 0.00128
NM_145167.3(PIGM):c.819G>A (p.Pro273=) rs138151842 0.00128
NM_000059.4(BRCA2):c.8149G>T (p.Ala2717Ser) rs28897747 0.00127
NM_000392.5(ABCC2):c.867+8T>C rs74152764 0.00127
NM_000492.4(CFTR):c.4242+10T>C rs138642693 0.00127
NM_001110556.2(FLNA):c.6023-10C>G rs72616474 0.00127
NM_001130438.3(SPTAN1):c.1330G>A (p.Val444Ile) rs77358650 0.00127
NM_002025.4(AFF2):c.2656C>G (p.Pro886Ala) rs151043891 0.00127
NM_003482.4(KMT2D):c.2156C>T (p.Pro719Leu) rs185660524 0.00127
NM_020366.4(RPGRIP1):c.542C>G (p.Ala181Gly) rs186266220 0.00127
NM_000287.4(PEX6):c.1480-5C>T rs376473597 0.00126
NM_004006.3(DMD):c.7183G>A (p.Ala2395Thr) rs72466590 0.00126
NM_005476.7(GNE):c.1872G>A (p.Ala624=) rs145361930 0.00126
NM_032119.4(ADGRV1):c.1086A>G (p.Leu362=) rs186639101 0.00126
NM_000051.4(ATM):c.4473C>T (p.Phe1491=) rs4988008 0.00125
NM_001170629.2(CHD8):c.6650G>A (p.Arg2217Gln) rs149307240 0.00125
NM_001267550.2(TTN):c.426C>T (p.Ala142=) rs56137037 0.00125
NM_002024.6(FMR1):c.1572C>T (p.Ser524=) rs143889976 0.00125
NM_018714.3(COG1):c.401C>T (p.Ser134Leu) rs146066919 0.00125
NM_057176.3(BSND):c.189C>T (p.Val63=) rs144505461 0.00125
NM_000093.5(COL5A1):c.1077G>A (p.Glu359=) rs201166370 0.00124
NM_001130987.2(DYSF):c.4937T>C (p.Ile1646Thr) rs146384562 0.00124
NM_001374353.1(GLI2):c.1243G>A (p.Val415Met) rs142296407 0.00124
NM_001374385.1(ATP8B1):c.234C>G (p.His78Gln) rs3745079 0.00124
NM_001378615.1(CC2D2A):c.2181+7A>C rs143681243 0.00124
NM_001458.5(FLNC):c.597C>T (p.Ala199=) rs143942649 0.00124
NM_004006.3(DMD):c.1888A>G (p.Thr630Ala) rs72468692 0.00124
NM_004369.4(COL6A3):c.6751C>T (p.Arg2251Trp) rs116690555 0.00124
NM_004380.3(CREBBP):c.4133+4A>G rs372126168 0.00124
NM_004380.3(CREBBP):c.5436C>G (p.Thr1812=) rs61731405 0.00124
NM_198253.3(TERT):c.534C>T (p.Leu178=) rs370420108 0.00124
NM_000546.6(TP53):c.139C>T (p.Pro47Ser) rs1800371 0.00123
NM_001005361.3(DNM2):c.238C>T (p.His80Tyr) rs148790687 0.00123
NM_004273.5(CHST3):c.*7C>T rs202242499 0.00123
NM_030665.4(RAI1):c.840G>A (p.Gln280=) rs398124421 0.00123
NM_032119.4(ADGRV1):c.6608T>C (p.Val2203Ala) rs200055351 0.00123
NM_133497.4(KCNV2):c.612G>A (p.Glu204=) rs186159326 0.00123
NM_000271.5(NPC1):c.612C>T (p.Thr204=) rs151084683 0.00122
NM_000744.7(CHRNA4):c.978C>T (p.Phe326=) rs76270730 0.00122
NM_004369.4(COL6A3):c.4090G>A (p.Val1364Met) rs35524572 0.00122
NM_005477.3(HCN4):c.546C>G (p.Pro182=) rs571671463 0.00122
NM_006432.5(NPC2):c.88G>A (p.Val30Met) rs151220873 0.00122
NM_015404.4(WHRN):c.668G>A (p.Arg223His) rs146273185 0.00122
NM_001165963.4(SCN1A):c.4393A>G (p.Ile1465Val) rs138231868 0.00121
NM_001374385.1(ATP8B1):c.2021T>C (p.Met674Thr) rs35470719 0.00121
NM_001378454.1(ALMS1):c.11745C>T (p.Ser3915=) rs147831309 0.00121
NM_005188.4(CBL):c.1858C>T (p.Leu620Phe) rs2227988 0.00121
NM_005343.4(HRAS):c.357C>T (p.Asp119=) rs111352454 0.00121
NM_000082.4(ERCC8):c.1080T>C (p.Ala360=) rs4647130 0.00120
NM_004463.3(FGD1):c.2568C>T (p.Tyr856=) rs61734179 0.00120
NM_020436.5(SALL4):c.1353C>T (p.Ala451=) rs140110863 0.00120
NM_024596.5(MCPH1):c.1236T>C (p.Tyr412=) rs142858644 0.00120
NM_052989.3(IFT122):c.3244A>G (p.Ile1082Val) rs143490747 0.00120
NM_000492.4(CFTR):c.1666A>G (p.Ile556Val) rs75789129 0.00119
NM_001035.3(RYR2):c.4740G>A (p.Pro1580=) rs79811945 0.00119
NM_001110792.2(MECP2):c.246C>T (p.Ser82=) rs61754439 0.00119
NM_001367916.1(MAGT1):c.932T>G (p.Val311Gly) rs145245774 0.00119
NM_033380.3(COL4A5):c.2858G>T (p.Gly953Val) rs78972735 0.00119
NM_000553.6(WRN):c.4216C>T (p.Arg1406Ter) rs11574410 0.00118
NM_001110556.2(FLNA):c.1029C>T (p.Ser343=) rs199853721 0.00118
NM_001184880.2(PCDH19):c.2938C>T (p.Arg980Cys) rs3764758 0.00118
NM_001191061.2(SLC25A22):c.618G>A (p.Pro206=) rs150544061 0.00118
NM_001267550.2(TTN):c.21779C>A (p.Ser7260Tyr) rs187925021 0.00118
NM_005333.5(HCCS):c.5G>A (p.Gly2Asp) rs144641429 0.00118
NM_178452.6(DNAAF1):c.1031-5A>T rs79772571 0.00118
NM_000535.7(PMS2):c.2340C>T (p.Pro780=) rs142230276 0.00117
NM_001037.5(SCN1B):c.588T>C (p.Asn196=) rs77244433 0.00117
NM_004463.3(FGD1):c.395G>A (p.Arg132Gln) rs145644275 0.00117
NM_007294.4(BRCA1):c.591C>T (p.Cys197=) rs1799965 0.00117
NM_130839.5(UBE3A):c.1269C>T (p.Asp423=) rs149506027 0.00117
NM_201384.3(PLEC):c.12784G>A (p.Val4262Ile) rs142946078 0.00117
NM_000133.4(F9):c.391+10T>G rs375734226 0.00116
NM_000138.5(FBN1):c.6073G>T (p.Ala2025Ser) rs113577372 0.00115
NM_000335.5(SCN5A):c.1967C>T (p.Pro656Leu) rs41313681 0.00115
NM_001134831.2(AHI1):c.3257A>G (p.Glu1086Gly) rs148000791 0.00115
NM_001287.6(CLCN7):c.1806C>T (p.Tyr602=) rs112753643 0.00115
NM_001377295.2(GNAT2):c.147C>T (p.Ile49=) rs146945932 0.00115
NM_001378120.1(MBD5):c.1368G>T (p.Ser456=) rs146020786 0.00115
NM_002024.6(FMR1):c.1857C>T (p.Asp619=) rs45540244 0.00115
NM_003242.6(TGFBR2):c.1657T>A (p.Ser553Thr) rs112215250 0.00115
NM_003383.5(VLDLR):c.242A>G (p.Asn81Ser) rs140526335 0.00115
NM_001127222.2(CACNA1A):c.1518T>C (p.Val506=) rs16009 0.00114
NM_001267550.2(TTN):c.98499C>T (p.Leu32833=) rs138968178 0.00114
NM_024577.4(SH3TC2):c.137A>C (p.Gln46Pro) rs146162276 0.00114
NM_001267550.2(TTN):c.34566A>C (p.Glu11522Asp) rs140640738 0.00113
NM_001267550.2(TTN):c.90536G>A (p.Arg30179His) rs149567378 0.00113
NM_004006.3(DMD):c.1513G>C (p.Val505Leu) rs140340626 0.00113
NM_004380.3(CREBBP):c.5719G>A (p.Ala1907Thr) rs199990883 0.00113
NM_020754.4(ARHGAP31):c.936T>C (p.Arg312=) rs200813566 0.00113
NM_030665.4(RAI1):c.972G>A (p.Pro324=) rs138675466 0.00113
NM_000093.5(COL5A1):c.3204+3G>A rs202054108 0.00112
NM_012254.3(SLC27A5):c.1686G>A (p.Val562=) rs201217575 0.00112
NM_201384.3(PLEC):c.4556C>T (p.Ser1519Leu) rs182120395 0.00112
NM_000252.3(MTM1):c.339T>C (p.Cys113=) rs147644722 0.00111
NM_001267550.2(TTN):c.13859G>A (p.Gly4620Asp) rs55857742 0.00111
NM_001267550.2(TTN):c.18824A>G (p.Asn6275Ser) rs184412722 0.00111
NM_001267550.2(TTN):c.89994G>A (p.Ser29998=) rs142891278 0.00111
NM_024408.4(NOTCH2):c.6479A>G (p.Tyr2160Cys) rs35216058 0.00111
NM_198506.5(LRIT3):c.1182A>G (p.Thr394=) rs184650144 0.00111
NM_000726.5(CACNB4):c.792T>C (p.Ser264=) rs139448267 0.00110
NM_001267550.2(TTN):c.49371A>T (p.Leu16457=) rs146163169 0.00110
NM_001267550.2(TTN):c.49919G>C (p.Ser16640Thr) rs55663050 0.00110
NM_000059.4(BRCA2):c.1911T>C (p.Gly637=) rs11571652 0.00109
NM_000162.5(GCK):c.660C>T (p.Cys220=) rs142952813 0.00109
NM_001267550.2(TTN):c.107700A>G (p.Glu35900=) rs55832587 0.00109
NM_001267550.2(TTN):c.57648C>T (p.Ile19216=) rs55956577 0.00109
NM_001384732.1(CPLANE1):c.6905C>T (p.Thr2302Met) rs34737149 0.00109
NM_024301.5(FKRP):c.520A>T (p.Ser174Cys) rs200990647 0.00109
NM_001061.7(TBXAS1):c.208C>T (p.Leu70Phe) rs140463378 0.00108
NM_001110792.2(MECP2):c.1162C>T (p.Pro388Ser) rs61752387 0.00108
NM_001130823.3(DNMT1):c.2676C>T (p.Phe892=) rs139861062 0.00108
NM_001267550.2(TTN):c.91565-13C>T rs200847757 0.00108
NM_001267550.2(TTN):c.91765G>A (p.Ala30589Thr) rs148617456 0.00108
NM_001267550.2(TTN):c.95148C>T (p.Thr31716=) rs140663434 0.00108
NM_001267550.2(TTN):c.95297C>T (p.Ser31766Phe) rs191484894 0.00108
NM_002335.4(LRP5):c.2193C>T (p.Asn731=) rs147388442 0.00108
NM_003482.4(KMT2D):c.4401C>T (p.Gly1467=) rs192659833 0.00108
NM_022455.5(NSD1):c.339C>T (p.Cys113=) rs77093936 0.00108
NM_000141.5(FGFR2):c.23T>G (p.Ile8Ser) rs147307031 0.00107
NM_001134363.3(RBM20):c.3170G>A (p.Arg1057Gln) rs188054898 0.00107
NM_001159699.2(FHL1):c.498C>T (p.Cys166=) rs145445372 0.00107
NM_001267550.2(TTN):c.64789G>A (p.Val21597Met) rs150661999 0.00107
NM_003482.4(KMT2D):c.1938C>G (p.Pro646=) rs147212187 0.00107
NM_004004.6(GJB2):c.478G>A (p.Gly160Ser) rs34988750 0.00107
NM_001267550.2(TTN):c.101891G>A (p.Arg33964His) rs55669553 0.00106
NM_001267550.2(TTN):c.25490G>A (p.Arg8497His) rs149855485 0.00106
NM_001267550.2(TTN):c.47545C>A (p.Pro15849Thr) rs146181477 0.00106
NM_001365536.1(SCN9A):c.2409T>C (p.Tyr803=) rs142219317 0.00106
NM_001370298.3(FGD4):c.2070C>G (p.Ala690=) rs188104446 0.00106
NM_005333.5(HCCS):c.216G>C (p.Ala72=) rs144152239 0.00106
NM_005957.5(MTHFR):c.417G>A (p.Thr139=) rs2066466 0.00106
NM_053025.4(MYLK):c.1007C>T (p.Pro336Leu) rs35912339 0.00106
NM_182961.4(SYNE1):c.13636G>A (p.Val4546Ile) rs4870093 0.00106
NM_182961.4(SYNE1):c.21523-8T>G rs187773880 0.00106
NM_000368.5(TSC1):c.-7C>T rs62621221 0.00105
NM_001453.3(FOXC1):c.921C>T (p.Gly307=) rs369300819 0.00105
NM_020717.5(SHROOM4):c.266G>A (p.Arg89Lys) rs148911180 0.00105
NM_000321.3(RB1):c.1961-12T>C rs201697122 0.00104
NM_001267550.2(TTN):c.20175A>G (p.Ile6725Met) rs146627500 0.00104
NM_001267550.2(TTN):c.24150C>T (p.Ser8050=) rs185062935 0.00104
NM_001267550.2(TTN):c.30384T>C (p.Asp10128=) rs188584219 0.00104
NM_001267550.2(TTN):c.45175G>A (p.Ala15059Thr) rs144668626 0.00104
NM_001267550.2(TTN):c.82560C>A (p.Asn27520Lys) rs56264840 0.00104
NM_005120.3(MED12):c.3204C>T (p.Pro1068=) rs201807437 0.00104
NM_000035.4(ALDOB):c.324+8C>G rs118168553 0.00103
NM_000631.5(NCF4):c.172C>T (p.Arg58Cys) rs143532979 0.00103
NM_001267550.2(TTN):c.101406C>G (p.Val33802=) rs55802460 0.00103
NM_001267550.2(TTN):c.106638G>A (p.Arg35546=) rs56324602 0.00103
NM_001267550.2(TTN):c.72624A>G (p.Pro24208=) rs56293906 0.00103
NM_001267550.2(TTN):c.90826T>G (p.Cys30276Gly) rs150430592 0.00103
NM_001369.3(DNAH5):c.3021G>T (p.Leu1007Phe) rs188638970 0.00103
NM_004415.4(DSP):c.8455A>C (p.Met2819Leu) rs138329459 0.00103
NM_022124.6(CDH23):c.198G>A (p.Val66=) rs111033288 0.00103
NM_022437.3(ABCG8):c.1645G>A (p.Ala549Thr) rs140690030 0.00103
NM_000059.4(BRCA2):c.6057C>T (p.Asn2019=) rs147961615 0.00102
NM_001083961.2(WDR62):c.3231C>T (p.Pro1077=) rs187029707 0.00102
NM_001267550.2(TTN):c.102595A>G (p.Ile34199Val) rs56347248 0.00102
NM_001267550.2(TTN):c.80701A>G (p.Ile26901Val) rs201562505 0.00102
NM_004380.3(CREBBP):c.2678C>T (p.Ser893Leu) rs142047649 0.00102
NM_014780.5(CUL7):c.3490C>T (p.Arg1164Trp) rs201135654 0.00102
NM_000548.5(TSC2):c.275A>T (p.Glu92Val) rs137853994 0.00101
NM_014467.3(SRPX2):c.481C>A (p.Arg161=) rs150552508 0.00101
NM_017780.4(CHD7):c.1565G>T (p.Gly522Val) rs142962579 0.00101
NM_021615.5(CHST6):c.993G>T (p.Gln331His) rs140699573 0.00101
NM_181332.3(NLGN4X):c.591C>T (p.Ile197=) rs149003627 0.00101
NM_000169.3(GLA):c.978G>A (p.Lys326=) rs151195362 0.00100
NM_005120.3(MED12):c.438A>G (p.Leu146=) rs35068602 0.00100
NM_182961.4(SYNE1):c.4031G>A (p.Arg1344Gln) rs144566713 0.00100
NM_001267550.2(TTN):c.100059T>A (p.Ile33353=) rs56026369 0.00099
NM_001323289.2(CDKL5):c.2409G>A (p.Thr803=) rs145401225 0.00099
NM_001374353.1(GLI2):c.1808C>T (p.Thr603Met) rs142775128 0.00099
NM_005216.5(DDOST):c.711C>T (p.Arg237=) rs34189097 0.00099
NM_182961.4(SYNE1):c.7156A>G (p.Ile2386Val) rs147947903 0.00099
NM_001199397.3(NEK1):c.3213C>T (p.Asn1071=) rs184324310 0.00098
NM_001267550.2(TTN):c.59835C>T (p.Asn19945=) rs72646842 0.00098
NM_004006.3(DMD):c.2261G>T (p.Gly754Val) rs151242451 0.00098
NM_025074.7(FRAS1):c.10539A>G (p.Thr3513=) rs199921300 0.00098
NM_000059.4(BRCA2):c.1938C>T (p.Ser646=) rs28897711 0.00096
NM_000751.3(CHRND):c.1400G>A (p.Arg467His) rs148939701 0.00096
NM_001267550.2(TTN):c.104251G>C (p.Ala34751Pro) rs185683410 0.00096
NM_002618.4(PEX13):c.229T>A (p.Ser77Thr) rs150161574 0.00096
NM_020436.5(SALL4):c.1497G>T (p.Thr499=) rs148435082 0.00096
NM_130839.5(UBE3A):c.1767C>T (p.Tyr589=) rs139082033 0.00096
NM_002435.3(MPI):c.1049C>T (p.Thr350Met) rs116933453 0.00095
NM_004369.4(COL6A3):c.4169C>T (p.Ser1390Leu) rs115548605 0.00095
NM_020779.4(WDR35):c.770T>C (p.Val257Ala) rs142955097 0.00095
NM_001267550.2(TTN):c.80322C>T (p.Ala26774=) rs55892928 0.00094
NM_014780.5(CUL7):c.465A>T (p.Gly155=) rs150212051 0.00094
NM_182914.3(SYNE2):c.9347A>G (p.Lys3116Arg) rs138689053 0.00094
NM_000159.4(GCDH):c.1011A>G (p.Ala337=) rs2229460 0.00093
NM_000426.4(LAMA2):c.6649G>A (p.Val2217Ile) rs147857398 0.00093
NM_001145809.2(MYH14):c.2432C>T (p.Ala811Val) rs201337011 0.00093
NM_012470.4(TNPO3):c.2280T>C (p.Ile760=) rs142359170 0.00093
NM_024685.4(BBS10):c.1545T>C (p.Asp515=) rs77565309 0.00093
NM_001267550.2(TTN):c.16529A>G (p.Tyr5510Cys) rs72648939 0.00092
NM_001267550.2(TTN):c.60821C>T (p.Pro20274Leu) rs72646845 0.00091
NM_003036.4(SKI):c.1851G>A (p.Glu617=) rs146789646 0.00091
NM_003482.4(KMT2D):c.510+45T>G rs370735843 0.00091
NM_005334.3(HCFC1):c.2872A>G (p.Thr958Ala) rs3027884 0.00091
NM_017534.6(MYH2):c.3432C>T (p.Asp1144=) rs184725551 0.00091
NM_182914.3(SYNE2):c.7124T>C (p.Leu2375Pro) rs111902869 0.00091
NM_000492.4(CFTR):c.1523T>G (p.Phe508Cys) rs74571530 0.00090
NM_006662.3(SRCAP):c.1559G>A (p.Ser520Asn) rs139339184 0.00090
NM_000553.6(WRN):c.2500C>T (p.Arg834Cys) rs3087425 0.00089
NM_005068.3(SIM1):c.1082C>T (p.Thr361Ile) rs145479047 0.00089
NM_014780.5(CUL7):c.3695G>A (p.Arg1232Gln) rs36004037 0.00089
NM_020779.4(WDR35):c.2149A>G (p.Ile717Val) rs144493712 0.00089
NM_182961.4(SYNE1):c.24481A>C (p.Asn8161His) rs36215251 0.00089
NM_207352.4(CYP4V2):c.1446G>A (p.Ser482=) rs141950964 0.00089
NM_001170629.2(CHD8):c.7036G>A (p.Glu2346Lys) rs200465274 0.00088
NM_002025.4(AFF2):c.496C>T (p.Pro166Ser) rs150996735 0.00088
NM_002880.4(RAF1):c.1830A>G (p.Gln610=) rs141791080 0.00088
NM_000023.4(SGCA):c.329G>A (p.Arg110Gln) rs145697858 0.00087
NM_001083614.2(EARS2):c.670G>A (p.Gly224Ser) rs141129877 0.00087
NM_001165963.4(SCN1A):c.1811G>A (p.Arg604His) rs121918769 0.00087
NM_002206.3(ITGA7):c.791-7C>T rs144699549 0.00087
NM_014795.4(ZEB2):c.2230A>G (p.Ile744Val) rs112005830 0.00087
NM_000071.3(CBS):c.52C>T (p.Arg18Cys) rs201827340 0.00086
NM_001370658.1(BTD):c.1041C>T (p.Gly347=) rs142421934 0.00086
NM_001849.4(COL6A2):c.2796G>A (p.Pro932=) rs373274913 0.00086
NM_022455.5(NSD1):c.2450C>T (p.Ser817Phe) rs115722008 0.00086
NM_178335.3(CCDC50):c.617C>T (p.Ser206Phe) rs138153104 0.00086
NM_201384.3(PLEC):c.3620G>T (p.Arg1207Leu) rs146685404 0.00086
NM_000238.4(KCNH2):c.1528C>T (p.Leu510=) rs75648145 0.00085
NM_000288.4(PEX7):c.615C>T (p.Asp205=) rs147298444 0.00085
NM_001367624.2(ZNF469):c.946G>A (p.Glu316Lys) rs368772806 0.00085
NM_002024.6(FMR1):c.419+43T>C rs191290706 0.00085
NM_017534.6(MYH2):c.2106C>T (p.Asn702=) rs145039915 0.00085
NM_152415.3(VPS37A):c.-19G>A rs59276128 0.00085
NM_000709.4(BCKDHA):c.376-4C>T rs199725420 0.00084
NM_001367721.1(CASK):c.1077G>A (p.Ala359=) rs145641295 0.00084
NM_005045.4(RELN):c.7111G>A (p.Ala2371Thr) rs79377093 0.00084
NM_014795.4(ZEB2):c.1161A>G (p.Leu387=) rs146673563 0.00084
NM_138694.4(PKHD1):c.9492C>T (p.Ser3164=) rs17752991 0.00084
NM_000142.5(FGFR3):c.1349C>T (p.Thr450Met) rs56240927 0.00083
NM_000492.4(CFTR):c.443T>C (p.Ile148Thr) rs35516286 0.00083
NM_003482.4(KMT2D):c.10045A>G (p.Met3349Val) rs80149580 0.00083
NM_004086.3(COCH):c.1348A>G (p.Ile450Val) rs139503327 0.00083
NM_014249.4(NR2E3):c.900G>A (p.Thr300=) rs184906734 0.00083
NM_000228.3(LAMB3):c.1188C>T (p.Thr396=) rs115883756 0.00082
NM_001037.5(SCN1B):c.351C>T (p.Gly117=) rs3746255 0.00082
NM_001267550.2(TTN):c.29128G>A (p.Val9710Ile) rs72649002 0.00082
NM_000393.5(COL5A2):c.2376A>C (p.Gly792=) rs35860166 0.00081
NM_001110556.2(FLNA):c.4451A>G (p.Gln1484Arg) rs200130356 0.00081
NM_001110792.2(MECP2):c.1233C>T (p.Pro411=) rs61753012 0.00081
NM_001164508.2(NEB):c.18783G>A (p.Gln6261=) rs148095660 0.00081
NM_001267550.2(TTN):c.13976A>G (p.Tyr4659Cys) rs34706803 0.00081
NM_006516.4(SLC2A1):c.1170C>T (p.Ile390=) rs2236574 0.00081
NM_006662.3(SRCAP):c.3868A>G (p.Ser1290Gly) rs150246733 0.00081
NM_182961.4(SYNE1):c.11196T>C (p.Ala3732=) rs138528119 0.00081
NM_201384.3(PLEC):c.6311C>T (p.Ala2104Val) rs201959200 0.00081
NM_001110792.2(MECP2):c.*9G>A rs144008995 0.00080
NM_001110792.2(MECP2):c.1366G>A (p.Ala456Thr) rs61753975 0.00080
NM_138694.4(PKHD1):c.1877A>G (p.Lys626Arg) rs117122807 0.00080
NM_000036.3(AMPD1):c.1122G>A (p.Lys374=) rs138993729 0.00079
NM_001164508.2(NEB):c.17887G>A (p.Val5963Ile) rs138217960 0.00079
NM_001267550.2(TTN):c.1537-4G>A rs56006378 0.00079
NM_003742.4(ABCB11):c.2101T>C (p.Ser701Pro) rs150572999 0.00079
NM_004463.3(FGD1):c.482-10G>A rs146783766 0.00079
NM_000271.5(NPC1):c.1947+8G>C rs66620415 0.00078
NM_001042702.5(PJVK):c.766+8T>C rs185220846 0.00078
NM_001130438.3(SPTAN1):c.6960-8T>C rs140241053 0.00078
NM_001267550.2(TTN):c.102103G>A (p.Asp34035Asn) rs144963736 0.00078
NM_014795.4(ZEB2):c.798G>C (p.Gly266=) rs34961586 0.00078
NM_016616.5(NME8):c.271-3T>C rs191137504 0.00078
NM_017433.5(MYO3A):c.2133G>A (p.Leu711=) rs56147819 0.00078
NM_201253.3(CRB1):c.3992G>A (p.Arg1331His) rs62636285 0.00078
NM_000051.4(ATM):c.2096A>G (p.Glu699Gly) rs147934285 0.00077
NM_000117.3(EMD):c.396C>T (p.His132=) rs145985318 0.00077
NM_000157.4(GBA1):c.1483G>C (p.Ala495Pro) rs368060 0.00077
NM_000283.4(PDE6B):c.1401+4C>T rs113246945 0.00077
NM_000548.5(TSC2):c.255C>T (p.Val85=) rs45517098 0.00077
NM_001114753.3(ENG):c.392C>T (p.Pro131Leu) rs139398993 0.00077
NM_001277313.2(FMN1):c.2718G>A (p.Pro906=) rs370019638 0.00077
NM_004187.5(KDM5C):c.108C>T (p.Pro36=) rs139309563 0.00077
NM_133433.4(NIPBL):c.6057C>T (p.Leu2019=) rs140907869 0.00077
NM_006208.3(ENPP1):c.2335A>C (p.Thr779Pro) rs1805138 0.00076
NM_014254.3(RXYLT1):c.603C>T (p.Leu201=) rs146732392 0.00076
NM_017780.4(CHD7):c.3202-5T>C rs147994149 0.00076
NM_030665.4(RAI1):c.3357C>T (p.Ser1119=) rs139448147 0.00076
NM_201384.3(PLEC):c.8182A>G (p.Ile2728Val) rs200061415 0.00076
NM_000489.6(ATRX):c.2540T>C (p.Phe847Ser) rs45624939 0.00075
NM_001267550.2(TTN):c.65775C>T (p.Ser21925=) rs72646867 0.00075
NM_003482.4(KMT2D):c.1120C>A (p.Pro374Thr) rs202013880 0.00075
NM_004369.4(COL6A3):c.5610C>A (p.Ser1870Arg) rs113153193 0.00075
NM_206933.4(USH2A):c.12046G>A (p.Val4016Met) rs138803855 0.00075
NM_207346.3(TSEN54):c.1368C>T (p.Asp456=) rs138560086 0.00075
NM_000283.4(PDE6B):c.1401+7_1401+8insA rs537010934 0.00074
NM_004369.4(COL6A3):c.775G>A (p.Ala259Thr) rs141609058 0.00074
NM_015102.5(NPHP4):c.2257G>A (p.Asp753Asn) rs148424288 0.00074
NM_017617.5(NOTCH1):c.368C>T (p.Thr123Met) rs187473846 0.00074
NM_000388.4(CASR):c.1285C>T (p.His429Tyr) rs142818334 0.00073
NM_001083961.2(WDR62):c.2529C>T (p.Asp843=) rs144697999 0.00073
NM_001291415.2(KDM6A):c.3335A>T (p.His1112Leu) rs141303384 0.00073
NM_014425.5(INVS):c.1704G>A (p.Gly568=) rs114645869 0.00073
NM_022039.4(FBXW4):c.1380C>T (p.Phe460=) rs145250200 0.00073
NM_022726.4(ELOVL4):c.699G>A (p.Thr233=) rs17853840 0.00073
NM_138694.4(PKHD1):c.9215C>T (p.Ala3072Val) rs139306706 0.00073
NM_182961.4(SYNE1):c.14163C>T (p.Asp4721=) rs3734366 0.00073
NM_182961.4(SYNE1):c.17797G>A (p.Ala5933Thr) rs113962905 0.00073
NM_001429.4(EP300):c.2576T>C (p.Ile859Thr) rs145714752 0.00072
NM_004393.6(DAG1):c.331G>A (p.Asp111Asn) rs117209107 0.00072
NM_005562.3(LAMC2):c.3206C>T (p.Thr1069Met) rs139043074 0.00072
NM_000702.4(ATP1A2):c.340G>A (p.Gly114Ser) rs116711766 0.00071
NM_001035.3(RYR2):c.3030T>C (p.Asp1010=) rs138064129 0.00071
NM_001184880.2(PCDH19):c.1294A>G (p.Met432Val) rs200728466 0.00071
NM_001267550.2(TTN):c.44529C>T (p.His14843=) rs55973744 0.00071
NM_001384474.1(LOXHD1):c.1815C>T (p.Asp605=) rs201388780 0.00071
NM_002206.3(ITGA7):c.1828G>A (p.Gly610Arg) rs150583010 0.00071
NM_003336.4(UBE2A):c.321A>G (p.Thr107=) rs61757566 0.00071
NM_004006.3(DMD):c.5476G>C (p.Glu1826Gln) rs140913030 0.00071
NM_005045.4(RELN):c.8944G>A (p.Asp2982Asn) rs148509350 0.00071
NM_012418.4(FSCN2):c.984-7C>T rs139335460 0.00071
NM_000124.4(ERCC6):c.1158C>G (p.Asp386Glu) rs141391984 0.00070
NM_001110792.2(MECP2):c.644C>T (p.Thr215Met) rs61749720 0.00070
NM_001267550.2(TTN):c.30224-8T>G rs72650010 0.00070
NM_006516.4(SLC2A1):c.1372C>A (p.Arg458=) rs13306758 0.00070
NM_024312.5(GNPTAB):c.323+36A>G rs182910639 0.00070
NM_000393.5(COL5A2):c.2787G>A (p.Ala929=) rs151027388 0.00069
NM_001110556.2(FLNA):c.5251C>T (p.Pro1751Ser) rs56102764 0.00069
NM_001384474.1(LOXHD1):c.5853G>A (p.Lys1951=) rs201366522 0.00069
NM_022124.6(CDH23):c.5541C>T (p.Asn1847=) rs148632119 0.00069
NM_201384.3(PLEC):c.11208G>A (p.Pro3736=) rs200273549 0.00069
NM_001378120.1(MBD5):c.3743A>G (p.Gln1248Arg) rs143028540 0.00068
NM_004333.6(BRAF):c.1332G>A (p.Arg444=) rs56101602 0.00068
NM_130837.3(OPA1):c.254G>A (p.Arg85His) rs35630194 0.00068
NM_000875.5(IGF1R):c.2570A>G (p.Asn857Ser) rs45611935 0.00067
NM_001083962.2(TCF4):c.1923G>A (p.Glu641=) rs76956936 0.00067
NM_001605.3(AARS1):c.1044G>C (p.Thr348=) rs181264712 0.00067
NM_004646.4(NPHS1):c.1339G>A (p.Glu447Lys) rs28939695 0.00067
NM_012470.4(TNPO3):c.-9G>A rs201636723 0.00067
NM_014336.5(AIPL1):c.905G>T (p.Arg302Leu) rs62637015 0.00067
NM_014795.4(ZEB2):c.2206A>G (p.Met736Val) rs139191491 0.00067
NM_000052.7(ATP7A):c.4390A>G (p.Ile1464Val) rs2234938 0.00066
NM_001083962.2(TCF4):c.944C>T (p.Ala315Val) rs147445499 0.00066
NM_003482.4(KMT2D):c.11380C>T (p.Pro3794Ser) rs113997424 0.00066
NM_004006.3(DMD):c.1812C>T (p.Ala604=) rs140919039 0.00066
NM_018136.5(ASPM):c.1007C>A (p.Thr336Lys) rs112113370 0.00066
NM_018136.5(ASPM):c.844A>C (p.Asn282His) rs113777932 0.00066
NM_018136.5(ASPM):c.905G>A (p.Cys302Tyr) rs77736715 0.00066
NM_001184880.2(PCDH19):c.769G>C (p.Val257Leu) rs201713027 0.00065
NM_018006.5(TRMU):c.75G>T (p.Arg25Ser) rs2272938 0.00065
NM_000443.4(ABCB4):c.833+6G>A rs202146217 0.00064
NM_001110792.2(MECP2):c.626C>T (p.Thr209Met) rs61749714 0.00064
NM_002834.5(PTPN11):c.526-8C>A rs184804143 0.00064
NM_004006.3(DMD):c.2199C>T (p.Ser733=) rs149882431 0.00064
NM_006662.3(SRCAP):c.4563T>A (p.Pro1521=) rs138541811 0.00064
NM_012186.3(FOXE3):c.929G>A (p.Gly310Asp) rs571095192 0.00064
NM_015102.5(NPHP4):c.2557G>T (p.Asp853Tyr) rs199875059 0.00064
NM_000235.4(LIPA):c.112-6C>T rs141302830 0.00063
NM_000336.3(SCNN1B):c.1782G>A (p.Thr594=) rs13306628 0.00063
NM_001277313.2(FMN1):c.2044-1461G>A rs183013008 0.00063
NM_007325.5(GRIA3):c.1181G>A (p.Arg394Gln) rs138817389 0.00063
NM_014249.4(NR2E3):c.904G>A (p.Val302Ile) rs1805025 0.00063
NM_014780.5(CUL7):c.4898C>T (p.Thr1633Met) rs139249497 0.00063
NM_022124.6(CDH23):c.6918G>A (p.Leu2306=) rs146819206 0.00063
NM_022436.3(ABCG5):c.1251G>A (p.Gln417=) rs146801512 0.00063
NM_033028.5(BBS4):c.1236A>T (p.Glu412Asp) rs147202164 0.00063
NM_206933.4(USH2A):c.4714C>T (p.Leu1572Phe) rs111033333 0.00063
NM_005249.5(FOXG1):c.489C>T (p.Gly163=) rs375378714 0.00062
NM_014795.4(ZEB2):c.2205T>C (p.Pro735=) rs149964599 0.00062
NM_001277115.2(DNAH11):c.11402C>G (p.Pro3801Arg) rs146362213 0.00061
NM_001330260.2(SCN8A):c.2371-6A>G rs187002252 0.00061
NM_001378615.1(CC2D2A):c.2161C>T (p.Pro721Ser) rs199768782 0.00061
NM_003482.4(KMT2D):c.7046C>T (p.Pro2349Leu) rs201581582 0.00061
NM_006371.5(CRTAP):c.641T>C (p.Val214Ala) rs146124454 0.00061
NM_022455.5(NSD1):c.480C>T (p.Asp160=) rs79427433 0.00061
NM_182961.4(SYNE1):c.24349C>T (p.Arg8117Trp) rs144056525 0.00061
NM_001110556.2(FLNA):c.3876C>T (p.His1292=) rs199917719 0.00060
NM_205861.3(DHDDS):c.542+8G>A rs149948788 0.00060
NM_000179.3(MSH6):c.1508C>G (p.Ser503Cys) rs63750897 0.00059
NM_001110792.2(MECP2):c.411C>A (p.Ile137=) rs146107517 0.00059
NM_001374353.1(GLI2):c.4577G>A (p.Arg1526His) rs138987487 0.00059
NM_001849.4(COL6A2):c.2610C>T (p.Asp870=) rs116817879 0.00059
NM_000157.4(GBA1):c.1497G>C (p.Val499=) rs1135675 0.00058
NM_000492.4(CFTR):c.3717+45G>A rs145743767 0.00058
NM_000531.6(OTC):c.298+5G>C rs72554348 0.00058
NM_000552.5(VWF):c.1329C>T (p.Ser443=) rs142404899 0.00058
NM_001267550.2(TTN):c.79700A>G (p.Asn26567Ser) rs183844833 0.00058
NM_002764.4(PRPS1):c.942C>T (p.Ser314=) rs147731055 0.00058
NM_002968.3(SALL1):c.809C>T (p.Pro270Leu) rs140827311 0.00058
NM_005609.4(PYGM):c.182G>A (p.Arg61His) rs145514333 0.00058
NM_012254.3(SLC27A5):c.743G>A (p.Arg248His) rs138318343 0.00058
NM_000548.5(TSC2):c.272C>T (p.Pro91Leu) rs45482691 0.00057
NM_001267550.2(TTN):c.87877C>T (p.Arg29293Cys) rs191482653 0.00057
NM_001386140.1(MTTP):c.1401A>G (p.Lys467=) rs148469697 0.00057
NM_014491.4(FOXP2):c.483A>G (p.Gln161=) rs62640396 0.00057
NM_001267550.2(TTN):c.32011+10C>G rs192002980 0.00056
NM_001365536.1(SCN9A):c.2392A>G (p.Met798Val) rs149707354 0.00056
NM_014946.4(SPAST):c.683-9C>T rs202209866 0.00056
NM_000152.5(GAA):c.858+8G>A rs5822325 0.00055
NM_001291867.2(NHS):c.4666T>A (p.Ser1556Thr) rs2071848 0.00055
NM_005027.4(PIK3R2):c.817A>T (p.Ser273Cys) rs147990742 0.00055
NM_000214.3(JAG1):c.133G>T (p.Val45Leu) rs183974372 0.00054
NM_000329.3(RPE65):c.963T>G (p.Asn321Lys) rs149916178 0.00054
NM_003742.4(ABCB11):c.1772A>G (p.Asn591Ser) rs11568367 0.00054
NM_004369.4(COL6A3):c.3879T>G (p.Asp1293Glu) rs74425496 0.00054
NM_022455.5(NSD1):c.4473G>T (p.Ser1491=) rs150920473 0.00054
NM_080680.3(COL11A2):c.688G>T (p.Gly230Trp) rs141430703 0.00054
NM_130839.5(UBE3A):c.1404A>G (p.Thr468=) rs150331504 0.00054
NM_000417.3(IL2RA):c.711A>G (p.Thr237=) rs11256354 0.00053
NM_001267550.2(TTN):c.99031T>A (p.Ser33011Thr) rs78814506 0.00053
NM_001291867.2(NHS):c.3374C>T (p.Ser1125Leu) rs145005596 0.00053
NM_001614.5(ACTG1):c.1017G>C (p.Val339=) rs111305526 0.00053
NM_002207.3(ITGA9):c.897+50T>A rs77438539 0.00053
NM_005633.4(SOS1):c.2371C>A (p.Leu791Ile) rs142004123 0.00053
NM_022124.6(CDH23):c.9077+7C>T rs76114420 0.00053
NM_030665.4(RAI1):c.4438A>G (p.Arg1480Gly) rs139684843 0.00053
NM_181303.2(NLGN3):c.594T>C (p.Gly198=) rs144247281 0.00053
NM_182961.4(SYNE1):c.2697A>G (p.Arg899=) rs75817012 0.00053
NM_207346.3(TSEN54):c.325C>G (p.Arg109Gly) rs148146916 0.00053
NM_022436.3(ABCG5):c.1806C>T (p.Phe602=) rs150716811 0.00052
NM_080680.3(COL11A2):c.3699C>T (p.Arg1233=) rs151098305 0.00052
NM_172107.4(KCNQ2):c.1185G>A (p.Arg395=) rs35430888 0.00052
NM_207361.6(FREM2):c.2133G>A (p.Met711Ile) rs115446826 0.00052
NM_001077446.4(TSEN34):c.394G>A (p.Gly132Arg) rs201506921 0.00051
NM_004380.3(CREBBP):c.760G>A (p.Ala254Thr) rs148781922 0.00051
NM_006306.4(SMC1A):c.3591C>T (p.Ala1197=) rs146216425 0.00051
NM_201253.3(CRB1):c.1533C>T (p.Ala511=) rs142224492 0.00051
NM_000257.4(MYH7):c.3036C>T (p.Ala1012=) rs145379951 0.00050
NM_000883.4(IMPDH1):c.1405+9A>G rs11562030 0.00050
NM_001110792.2(MECP2):c.879C>T (p.Ala293=) rs61750252 0.00050
NM_002103.5(GYS1):c.492+9C>T rs191213443 0.00050
NM_014714.4(IFT140):c.3988G>A (p.Ala1330Thr) rs200699325 0.00050
NM_015102.5(NPHP4):c.1966G>A (p.Asp656Asn) rs191602135 0.00050
NM_206933.4(USH2A):c.15427C>T (p.Arg5143Cys) rs145771342 0.00050
NM_144969.3(ZDHHC15):c.747C>T (p.Cys249=) rs147278537 0.00049
NM_001130987.2(DYSF):c.4560C>T (p.Phe1520=) rs544993852 0.00048
NM_001170629.2(CHD8):c.6119A>G (p.Asp2040Gly) rs148494847 0.00048
NM_001267550.2(TTN):c.67542T>G (p.Thr22514=) rs72646876 0.00048
NM_001458.5(FLNC):c.5592C>T (p.Ala1864=) rs117517372 0.00048
NM_002495.4(NDUFS4):c.10G>C (p.Val4Leu) rs185711494 0.00048
NM_004006.3(DMD):c.2381-3T>C rs147931243 0.00048
NM_020800.3(IFT80):c.937A>G (p.Thr313Ala) rs146065418 0.00048
NM_022124.6(CDH23):c.1078C>T (p.Leu360=) rs185917383 0.00048
NM_173495.3(PTCHD1):c.1494C>T (p.Thr498=) rs138676073 0.00048
NM_001165963.4(SCN1A):c.4945C>T (p.Leu1649=) rs148546224 0.00047
NM_001267550.2(TTN):c.59943C>A (p.Pro19981=) rs202017608 0.00047
NM_001111125.3(IQSEC2):c.2571C>A (p.Ile857=) rs146979083 0.00046
NM_001844.5(COL2A1):c.3736G>A (p.Gly1246Ser) rs147569641 0.00046
NM_001849.4(COL6A2):c.1706G>A (p.Arg569Gln) rs147158850 0.00046
NM_002180.3(IGHMBP2):c.344C>T (p.Thr115Met) rs181657861 0.00046
NM_018136.5(ASPM):c.8166T>C (p.Tyr2722=) rs78315399 0.00046
NM_000292.3(PHKA2):c.1396G>A (p.Ala466Thr) rs144591812 0.00045
NM_005257.6(GATA6):c.1605A>G (p.Gln535=) rs117646477 0.00045
NM_001291867.2(NHS):c.1596G>A (p.Glu532=) rs146437542 0.00044
NM_004646.4(NPHS1):c.2869G>C (p.Val957Leu) rs114849139 0.00044
NM_145239.3(PRRT2):c.439G>C (p.Asp147His) rs79568162 0.00044
NM_198999.3(SLC26A5):c.1572C>T (p.Asp524=) rs191358470 0.00044
NM_001048174.2(MUTYH):c.1365C>T (p.Thr455=) rs150269172 0.00043
NM_023110.3(FGFR1):c.320C>T (p.Ser107Leu) rs140382957 0.00043
NM_024312.5(GNPTAB):c.3598G>A (p.Glu1200Lys) rs137853825 0.00043
NM_000088.4(COL1A1):c.3123C>T (p.Pro1041=) rs145608939 0.00042
NM_014014.5(SNRNP200):c.2800A>G (p.Thr934Ala) rs149616320 0.00042
NM_014780.5(CUL7):c.1030G>A (p.Ala344Thr) rs183119565 0.00042
NM_001127222.2(CACNA1A):c.5732-6T>C rs16043 0.00041
NM_001177316.2(SLC34A3):c.929G>A (p.Arg310His) rs200477567 0.00041
NM_004380.3(CREBBP):c.879G>A (p.Val293=) rs144344016 0.00041
NM_005027.4(PIK3R2):c.1023C>T (p.Asn341=) rs201900751 0.00041
NM_005670.4(EPM2A):c.376A>G (p.Ile126Val) rs150452237 0.00041
NM_014639.4(SKIC3):c.3079G>A (p.Gly1027Ser) rs188952987 0.00041
NM_001458.5(FLNC):c.5764G>A (p.Ala1922Thr) rs202128602 0.00040
NM_004006.3(DMD):c.2490C>T (p.Asn830=) rs72468679 0.00040
NM_016239.4(MYO15A):c.3999C>T (p.Ala1333=) rs192570479 0.00040
NM_033028.5(BBS4):c.24+8C>T rs200055760 0.00040
NM_000251.3(MSH2):c.1168C>T (p.Leu390Phe) rs17224367 0.00039
NM_001127222.2(CACNA1A):c.5897G>A (p.Arg1966Gln) rs199886234 0.00039
NM_003742.4(ABCB11):c.1605C>T (p.Ala535=) rs144848376 0.00039
NM_004006.3(DMD):c.6828C>T (p.Pro2276=) rs72466595 0.00039
NM_004369.4(COL6A3):c.1248G>A (p.Leu416=) rs150219857 0.00039
NM_004369.4(COL6A3):c.9017A>G (p.Lys3006Arg) rs2270668 0.00039
NM_006306.4(SMC1A):c.2824C>T (p.Leu942=) rs139654605 0.00039
NM_182961.4(SYNE1):c.12411C>T (p.His4137=) rs751325537 0.00039
NM_182961.4(SYNE1):c.19692+3G>A rs150304757 0.00039
NM_000053.4(ATP7B):c.2785A>G (p.Ile929Val) rs534960245 0.00038
NM_000152.5(GAA):c.257C>G (p.Pro86Arg) rs2229222 0.00038
NM_000209.4(PDX1):c.336C>G (p.Pro112=) rs149275902 0.00038
NM_000492.4(CFTR):c.3080T>C (p.Ile1027Thr) rs1800112 0.00038
NM_000520.6(HEXA):c.1435G>A (p.Ala479Thr) rs145012038 0.00038
NM_001184880.2(PCDH19):c.3400A>C (p.Asn1134His) rs141816797 0.00038
NM_001184880.2(PCDH19):c.531G>A (p.Glu177=) rs192122222 0.00038
NM_001199107.2(TBC1D24):c.204G>A (p.Thr68=) rs201374999 0.00038
NM_004380.3(CREBBP):c.3158C>T (p.Pro1053Leu) rs142008620 0.00038
NM_004984.4(KIF5A):c.2412C>T (p.Asp804=) rs145062338 0.00038
NM_018136.5(ASPM):c.581C>A (p.Ala194Asp) rs141532484 0.00038
NM_004369.4(COL6A3):c.5609G>A (p.Ser1870Asn) rs114804083 0.00037
NM_018136.5(ASPM):c.7475G>A (p.Arg2492Lys) rs118010078 0.00037
NM_000368.5(TSC1):c.250G>A (p.Ala84Thr) rs118203357 0.00036
NM_001378615.1(CC2D2A):c.4438-9C>A rs117667651 0.00036
NM_005629.4(SLC6A8):c.1516G>A (p.Asp506Asn) rs201526436 0.00036
NM_014780.5(CUL7):c.1542G>T (p.Gln514His) rs146808129 0.00036
NM_133379.5(TTN):c.10646G>A (p.Arg3549His) rs148115514 0.00036
NM_001034853.2(RPGR):c.785C>G (p.Ala262Gly) rs138018739 0.00035
NM_001267550.2(TTN):c.70907G>A (p.Arg23636His) rs56071233 0.00035
NM_001278116.2(L1CAM):c.2211G>A (p.Pro737=) rs146782397 0.00035
NM_004006.3(DMD):c.1095A>C (p.Gln365His) rs1800266 0.00035
NM_133497.4(KCNV2):c.645G>C (p.Lys215Asn) rs201327014 0.00035
NM_138694.4(PKHD1):c.325G>A (p.Ala109Thr) rs143979330 0.00035
NM_182961.4(SYNE1):c.22137C>T (p.Asp7379=) rs148556501 0.00035
NM_000414.4(HSD17B4):c.948A>G (p.Ala316=) rs192301957 0.00034
NM_000492.4(CFTR):c.1516A>G (p.Ile506Val) rs1800091 0.00034
NM_001110792.2(MECP2):c.623C>G (p.Thr208Ser) rs61749713 0.00034
NM_004369.4(COL6A3):c.3088G>A (p.Val1030Met) rs116238578 0.00034
NM_004525.3(LRP2):c.2511C>T (p.Ala837=) rs375313914 0.00034
NM_017534.6(MYH2):c.2304+7T>G rs370223713 0.00034
NM_194318.4(B3GLCT):c.902A>T (p.Tyr301Phe) rs114184584 0.00034
NM_201384.3(PLEC):c.6162C>T (p.His2054=) rs563719398 0.00034
NM_201525.4(ADGRG1):c.132C>T (p.Ser44=) rs12599906 0.00034
NM_000368.5(TSC1):c.1079C>A (p.Thr360Asn) rs118203493 0.00033
NM_001128178.3(NPHP1):c.836C>T (p.Thr279Met) rs200201945 0.00033
NM_001267550.2(TTN):c.45599C>G (p.Ala15200Gly) rs201057307 0.00033
NM_001323289.2(CDKL5):c.1338A>T (p.Ser446=) rs139329419 0.00033
NM_001849.4(COL6A2):c.2944A>G (p.Met982Val) rs190664941 0.00033
NM_002206.3(ITGA7):c.999-4A>G rs370741662 0.00033
NM_007254.4(PNKP):c.876A>G (p.Gly292=) rs3739199 0.00033
NM_014795.4(ZEB2):c.759C>T (p.Arg253=) rs150853991 0.00033
NM_032382.5(COG8):c.1741C>A (p.Pro581Thr) rs548002506 0.00033
NM_022367.4(SEMA4A):c.2167C>T (p.Arg723Cys) rs199933282 0.00032
NM_025114.4(CEP290):c.6452T>C (p.Leu2151Ser) rs191613017 0.00032
NM_000088.4(COL1A1):c.1002+10G>T rs368316440 0.00031
NM_001360.3(DHCR7):c.126C>T (p.Ser42=) rs150928869 0.00031
NM_001371623.1(TCOF1):c.4099A>C (p.Lys1367Gln) rs201234047 0.00031
NM_001849.4(COL6A2):c.528G>A (p.Gln176=) rs377585812 0.00031
NM_002206.3(ITGA7):c.2710C>T (p.Leu904=) rs200149396 0.00031
NM_004006.3(DMD):c.5586+18A>G rs189522063 0.00031
NM_004369.4(COL6A3):c.4912G>A (p.Ala1638Thr) rs114322958 0.00031
NM_020754.4(ARHGAP31):c.4096G>A (p.Val1366Met) rs3796360 0.00031
NM_000051.4(ATM):c.4949A>G (p.Asn1650Ser) rs55870064 0.00030
NM_001110556.2(FLNA):c.5589C>T (p.Val1863=) rs200787122 0.00030
NM_001127222.2(CACNA1A):c.1572T>A (p.Ile524=) rs16010 0.00030
NM_001128205.2(SULF1):c.2440G>A (p.Val814Met) rs117639561 0.00030
NM_001267550.2(TTN):c.80271C>T (p.Val26757=) rs199875474 0.00030
NM_001278116.2(L1CAM):c.1547-4T>A rs200148275 0.00030
NM_001297.5(CNGB1):c.412+8C>A rs185727761 0.00030
NM_003839.4(TNFRSF11A):c.1644G>C (p.Val548=) rs35114461 0.00030
NM_004333.6(BRAF):c.2235A>G (p.Leu745=) rs56046546 0.00030
NM_004385.5(VCAN):c.1895C>T (p.Thr632Met) rs143729093 0.00030
NM_020686.6(ABAT):c.684G>A (p.Thr228=) rs148143485 0.00030
NM_000273.3(GPR143):c.371A>G (p.Gln124Arg) rs62635032 0.00029
NM_001323289.2(CDKL5):c.1431T>C (p.Ser477=) rs143992148 0.00029
NM_001366722.1(GRIP1):c.692C>T (p.Ala231Val) rs150958775 0.00029
NM_002609.4(PDGFRB):c.2463C>T (p.Asn821=) rs78336563 0.00029
NM_002951.5(RPN2):c.265T>C (p.Tyr89His) rs146315738 0.00029
NM_003742.4(ABCB11):c.2594C>T (p.Ala865Val) rs118109635 0.00029
NM_004369.4(COL6A3):c.6618C>T (p.Pro2206=) rs201814201 0.00029
NM_138694.4(PKHD1):c.2168G>T (p.Arg723Leu) rs150597050 0.00029
NM_152564.5(VPS13B):c.3751A>G (p.Thr1251Ala) rs184693266 0.00029
NM_182914.3(SYNE2):c.12043T>C (p.Tyr4015His) rs75665958 0.00029
NM_182914.3(SYNE2):c.7128A>G (p.Pro2376=) rs117423703 0.00029
NM_001110792.2(MECP2):c.813C>T (p.Ala271=) rs1042870 0.00028
NM_001170629.2(CHD8):c.6232C>T (p.Leu2078=) rs188900504 0.00028
NM_006790.3(MYOT):c.617G>A (p.Gly206Asp) rs151094883 0.00028
NM_001384474.1(LOXHD1):c.4031G>T (p.Cys1344Phe) rs368870055 0.00027
NM_004006.3(DMD):c.9804A>G (p.Gln3268=) rs12690372 0.00027
NM_004369.4(COL6A3):c.7359G>A (p.Glu2453=) rs114199044 0.00027
NM_144672.4(OTOA):c.921G>A (p.Ala307=) rs12051473 0.00027
NM_000059.4(BRCA2):c.516+14C>T rs182828913 0.00026
NM_000152.5(GAA):c.1286A>G (p.Gln429Arg) rs200294882 0.00026
NM_001127649.3(PEX26):c.198C>T (p.Ala66=) rs374290931 0.00026
NM_001267550.2(TTN):c.50719A>G (p.Ile16907Val) rs750610895 0.00026
NM_001378615.1(CC2D2A):c.501G>T (p.Lys167Asn) rs190694237 0.00026
NM_002180.3(IGHMBP2):c.1581C>T (p.Asp527=) rs149736203 0.00026
NM_014795.4(ZEB2):c.1438G>T (p.Ala480Ser) rs143854197 0.00026
NM_015102.5(NPHP4):c.1089G>T (p.Val363=) rs201464887 0.00026
NM_024408.4(NOTCH2):c.2042T>A (p.Ile681Asn) rs74882029 0.00026
NM_182914.3(SYNE2):c.990+10A>G rs145924910 0.00026
NM_182961.4(SYNE1):c.25146C>T (p.Ser8382=) rs151034170 0.00026
NM_000112.4(SLC26A2):c.229A>C (p.Asn77His) rs76784312 0.00025
NM_000535.7(PMS2):c.2324A>G (p.Asn775Ser) rs17420802 0.00025
NM_002025.4(AFF2):c.1121C>A (p.Ser374Tyr) rs200306870 0.00025
NM_019098.5(CNGB3):c.2415A>C (p.Glu805Asp) rs186448979 0.00025
NM_022455.5(NSD1):c.3187A>G (p.Thr1063Ala) rs193290006 0.00025
NM_022455.5(NSD1):c.7908C>T (p.Leu2636=) rs143159630 0.00025
NM_152564.5(VPS13B):c.11884C>G (p.Pro3962Ala) rs201483764 0.00025
NM_182961.4(SYNE1):c.1838C>T (p.Ser613Phe) rs140135976 0.00025
NM_000823.4(GHRHR):c.660G>A (p.Leu220=) rs145466944 0.00024
NM_001199107.2(TBC1D24):c.22T>C (p.Cys8Arg) rs77585883 0.00024
NM_001360.3(DHCR7):c.987C>T (p.Pro329=) rs145901607 0.00024
NM_015311.3(OBSL1):c.423G>A (p.Arg141=) rs79796143 0.00024
NM_015404.4(WHRN):c.1608C>G (p.Thr536=) rs139337135 0.00024
NM_171998.4(RAB39B):c.543A>G (p.Thr181=) rs369970931 0.00024
NM_000368.5(TSC1):c.615T>C (p.Ser205=) rs118203414 0.00023
NM_001164508.2(NEB):c.2343G>A (p.Lys781=) rs191610670 0.00023
NM_001278182.2(EOMES):c.359C>G (p.Ala120Gly) rs1874198 0.00023
NM_002578.5(PAK3):c.601-10G>T rs185674324 0.00023
NM_002968.3(SALL1):c.3915C>T (p.Asn1305=) rs140524372 0.00023
NM_003919.3(SGCE):c.1072C>T (p.Leu358=) rs139062360 0.00023
NM_000214.3(JAG1):c.3507G>C (p.Arg1169=) rs138452567 0.00022
NM_001042432.2(CLN3):c.45G>A (p.Glu15=) rs201824641 0.00022
NM_001386393.1(PANK2):c.50G>T (p.Gly17Val) rs528149001 0.00022
NM_004183.4(BEST1):c.495G>A (p.Pro165=) rs182941675 0.00022
NM_000441.2(SLC26A4):c.1544+9C>T rs368970459 0.00021
NM_000487.6(ARSA):c.636C>T (p.Ala212=) rs200182983 0.00021
NM_001110792.2(MECP2):c.1020C>T (p.Leu340=) rs61751442 0.00021
NM_001184880.2(PCDH19):c.1725C>T (p.Val575=) rs200471732 0.00021
NM_001244008.2(KIF1A):c.2475C>T (p.Tyr825=) rs199996308 0.00021
NM_001267550.2(TTN):c.18745G>A (p.Asp6249Asn) rs201263441 0.00021
NM_004006.3(DMD):c.2827C>T (p.Arg943Cys) rs199986217 0.00021
NM_007294.4(BRCA1):c.2477C>A (p.Thr826Lys) rs28897683 0.00021
NM_015294.6(TRIM37):c.2577-7C>G rs199694001 0.00021
NM_182961.4(SYNE1):c.26298A>G (p.Pro8766=) rs200880341 0.00021
NM_000059.4(BRCA2):c.1385A>G (p.Glu462Gly) rs56403624 0.00020
NM_001039141.3(TRIOBP):c.3074G>A (p.Arg1025Gln) rs368593552 0.00020
NM_001110556.2(FLNA):c.732C>T (p.Pro244=) rs371092631 0.00020
NM_001110792.2(MECP2):c.1173C>T (p.Pro391=) rs61752980 0.00020
NM_001110792.2(MECP2):c.462C>T (p.Phe154=) rs61748397 0.00020
NM_003482.4(KMT2D):c.6836G>A (p.Gly2279Glu) rs200578414 0.00020
NM_004006.3(DMD):c.1666G>A (p.Asp556Asn) rs182708940 0.00020
NM_004006.3(DMD):c.1809G>A (p.Leu603=) rs192176661 0.00020
NM_004006.3(DMD):c.6571C>T (p.Arg2191Trp) rs149322279 0.00020
NM_020800.3(IFT80):c.933A>G (p.Thr311=) rs138798955 0.00020
NM_022436.3(ABCG5):c.897C>T (p.Asp299=) rs373237261 0.00020
NM_025074.7(FRAS1):c.6530T>C (p.Val2177Ala) rs76345011 0.00020
NM_133379.5(TTN):c.14327T>C (p.Leu4776Ser) rs142132973 0.00020
NM_206933.4(USH2A):c.10510C>G (p.Pro3504Ala) rs200372118 0.00020
NM_000117.3(EMD):c.445G>C (p.Asp149His) rs2070818 0.00019
NM_000214.3(JAG1):c.2073T>C (p.Cys691=) rs200648035 0.00019
NM_000219.6(KCNE1):c.112A>G (p.Ser38Gly) rs1805127 0.00019
NM_000287.4(PEX6):c.2531T>C (p.Val844Ala) rs187435179 0.00019
NM_000521.4(HEXB):c.1614-14C>A rs201448394 0.00019
NM_001134793.2(HYLS1):c.24A>G (p.Gly8=) rs145001537 0.00019
NM_001267550.2(TTN):c.39127+10A>C rs397517554 0.00019
NM_001267550.2(TTN):c.68437G>A (p.Glu22813Lys) rs200797552 0.00019
NM_001267550.2(TTN):c.8069C>T (p.Thr2690Ile) rs374620001 0.00019
NM_001267550.2(TTN):c.86052T>C (p.Thr28684=) rs76928874 0.00019
NM_003482.4(KMT2D):c.2838G>A (p.Ala946=) rs376753331 0.00019
NM_018136.5(ASPM):c.5224T>C (p.Tyr1742His) rs143733126 0.00019
NM_021625.5(TRPV4):c.2289C>T (p.Thr763=) rs202036871 0.00019
NM_133379.5(TTN):c.13614A>C (p.Gln4538His) rs139344272 0.00019
NM_000152.5(GAA):c.1285C>G (p.Gln429Glu) rs528369909 0.00018
NM_000169.3(GLA):c.129C>T (p.Gly43=) rs146177035 0.00018
NM_000535.7(PMS2):c.2253T>C (p.Phe751=) rs1805325 0.00018
NM_001032382.2(PQBP1):c.264G>A (p.Ser88=) rs398124212 0.00018
NM_001323289.2(CDKL5):c.180G>A (p.Glu60=) rs148697943 0.00018
NM_004006.3(DMD):c.2096C>G (p.Ala699Gly) rs202008454 0.00018
NM_012301.4(MAGI2):c.528G>A (p.Gly176=) rs140651421 0.00018
NM_024757.5(EHMT1):c.2970G>T (p.Gln990His) rs143669310 0.00018
NM_000112.4(SLC26A2):c.1410A>G (p.Val470=) rs115777661 0.00017
NM_001111.5(ADAR):c.2496+9G>A rs199698434 0.00017
NM_001368397.1(FRMPD4):c.3379G>A (p.Glu1127Lys) rs143423231 0.00017
NM_004369.4(COL6A3):c.4006G>A (p.Val1336Ile) rs144051775 0.00017
NM_007078.3(LDB3):c.1335C>T (p.Tyr445=) rs587781024 0.00017
NM_012210.4(TRIM32):c.770C>G (p.Thr257Arg) rs3747834 0.00017
NM_133379.5(TTN):c.15981G>A (p.Gln5327=) rs186841908 0.00017
NM_000088.4(COL1A1):c.1005T>A (p.Gly335=) rs375914028 0.00016
NM_000334.4(SCN4A):c.963C>T (p.Asn321=) rs748863960 0.00016
NM_000709.4(BCKDHA):c.1211A>G (p.Asn404Ser) rs148090804 0.00016
NM_001032221.6(STXBP1):c.902+9C>A rs200737004 0.00016
NM_001291867.2(NHS):c.3310C>T (p.His1104Tyr) rs201263814 0.00016
NM_002880.4(RAF1):c.119G>A (p.Arg40His) rs192632236 0.00016
NM_003482.4(KMT2D):c.9343C>T (p.Leu3115Phe) rs587778471 0.00016
NM_000152.5(GAA):c.1332T>C (p.Pro444=) rs200007324 0.00015
NM_000271.5(NPC1):c.445G>A (p.Gly149Arg) rs143205855 0.00015
NM_000458.4(HNF1B):c.73G>T (p.Val25Leu) rs139107479 0.00015
NM_001083962.2(TCF4):c.208-8A>G rs184943897 0.00015
NM_001110792.2(MECP2):c.1409G>A (p.Arg470His) rs185957513 0.00015
NM_001849.4(COL6A2):c.2331C>T (p.Cys777=) rs181711180 0.00015
NM_004369.4(COL6A3):c.1264G>A (p.Val422Met) rs114511558 0.00015
NM_004380.3(CREBBP):c.833A>C (p.Gln278Pro) rs577305576 0.00015
NM_000414.4(HSD17B4):c.1767+8T>C rs190659146 0.00014
NM_001017420.3(ESCO2):c.147C>G (p.Cys49Trp) rs201989984 0.00014
NM_001061.7(TBXAS1):c.183+5G>A rs368506589 0.00014
NM_001267550.2(TTN):c.103053C>T (p.Thr34351=) rs3731753 0.00014
NM_001267550.2(TTN):c.59282A>G (p.Asn19761Ser) rs563969986 0.00014
NM_001378615.1(CC2D2A):c.1830G>A (p.Pro610=) rs185072004 0.00014
NM_004006.3(DMD):c.7151C>A (p.Ser2384Tyr) rs185706283 0.00014
NM_004385.5(VCAN):c.4546A>G (p.Lys1516Glu) rs144610900 0.00014
NM_004817.4(TJP2):c.375C>T (p.Ala125=) rs181450555 0.00014
NM_182914.3(SYNE2):c.2013G>A (p.Leu671=) rs371320284 0.00014
NM_001039958.2(MESP2):c.306C>A (p.His102Gln) rs77473319 0.00013
NM_001110792.2(MECP2):c.897C>T (p.Ala299=) rs139378224 0.00013
NM_001267550.2(TTN):c.72906T>A (p.Ala24302=) rs773886758 0.00013
NM_001267550.2(TTN):c.82810G>A (p.Gly27604Ser) rs199929362 0.00013
NM_001378414.1(HDAC4):c.1101G>A (p.Thr367=) rs371792033 0.00013
NM_002968.3(SALL1):c.235G>C (p.Ala79Pro) rs536108231 0.00013
NM_004369.4(COL6A3):c.6064-6C>T rs202091342 0.00013
NM_213599.3(ANO5):c.2256G>A (p.Thr752=) rs144048656 0.00013
NM_000232.5(SGCB):c.799C>T (p.Arg267Cys) rs200761715 0.00012
NM_000784.4(CYP27A1):c.578G>A (p.Arg193Gln) rs181649030 0.00012
NM_001136193.2(FASTKD2):c.911T>C (p.Ile304Thr) rs144499152 0.00012
NM_001267550.2(TTN):c.18816T>C (p.Ile6272=) rs146219199 0.00012
NM_001267550.2(TTN):c.39045G>C (p.Val13015=) rs192464868 0.00012
NM_001429.4(EP300):c.4026-7T>C rs187388966 0.00012
NM_000257.4(MYH7):c.4974C>T (p.Asp1658=) rs374289523 0.00011
NM_001195248.2(APTX):c.762G>A (p.Pro254=) rs571475924 0.00011
NM_001267550.2(TTN):c.32954G>C (p.Arg10985Pro) rs181395238 0.00011
NM_001369268.1(ACAN):c.2037G>A (p.Ala679=) rs372553119 0.00011
NM_003482.4(KMT2D):c.4143G>A (p.Val1381=) rs398123745 0.00011
NM_004369.4(COL6A3):c.3205G>A (p.Val1069Met) rs115297652 0.00011
NM_004560.4(ROR2):c.2466C>T (p.Asn822=) rs146432734 0.00011
NM_007294.4(BRCA1):c.2596C>T (p.Arg866Cys) rs41286300 0.00011
NM_138694.4(PKHD1):c.7091T>A (p.Ile2364Asn) rs76260483 0.00011
NM_153717.3(EVC):c.473C>G (p.Ser158Cys) rs150284356 0.00011
NM_000784.4(CYP27A1):c.256G>A (p.Val86Met) rs200604732 0.00010
NM_000784.4(CYP27A1):c.792G>A (p.Val264=) rs144018609 0.00010
NM_001040142.2(SCN2A):c.24G>A (p.Pro8=) rs149534277 0.00010
NM_001080.3(ALDH5A1):c.1479C>T (p.Asn493=) rs200661931 0.00010
NM_001110792.2(MECP2):c.731G>C (p.Gly244Ala) rs61748422 0.00010
NM_001164508.2(NEB):c.23055G>A (p.Gly7685=) rs563896790 0.00010
NM_004006.3(DMD):c.1318G>A (p.Glu440Lys) rs189143447 0.00010
NM_005633.4(SOS1):c.553A>G (p.Ile185Val) rs143962515 0.00010
NM_015506.3(MMACHC):c.165G>A (p.Thr55=) rs369883781 0.00010
NM_022124.6(CDH23):c.6197G>A (p.Arg2066Gln) rs201887949 0.00010
NM_182961.4(SYNE1):c.19534G>T (p.Ala6512Ser) rs149272010 0.00010
NM_201384.3(PLEC):c.1815+10G>A rs398123396 0.00010
NM_000137.4(FAH):c.1209C>T (p.Ile403=) rs111345782 0.00009
NM_000152.5(GAA):c.664G>A (p.Val222Met) rs374569672 0.00009
NM_000157.4(GBA1):c.605G>A (p.Arg202Gln) rs398123531 0.00009
NM_000257.4(MYH7):c.5361A>G (p.Glu1787=) rs201171029 0.00009
NM_000417.3(IL2RA):c.457G>A (p.Val153Ile) rs201188114 0.00009
NM_000489.6(ATRX):c.570T>G (p.Pro190=) rs188831993 0.00009
NM_001039.4(SCNN1G):c.699C>T (p.His233=) rs192839222 0.00009
NM_001110792.2(MECP2):c.1270G>A (p.Val424Ile) rs61753966 0.00009
NM_001110792.2(MECP2):c.851C>T (p.Pro284Leu) rs61750243 0.00009
NM_001267550.2(TTN):c.83059C>T (p.Leu27687=) rs200992636 0.00009
NM_004369.4(COL6A3):c.6053C>T (p.Ala2018Val) rs200239695 0.00009
NM_004380.3(CREBBP):c.681T>C (p.Pro227=) rs201193684 0.00009
NM_005506.4(SCARB2):c.1385G>A (p.Gly462Glu) rs117157204 0.00009
NM_018136.5(ASPM):c.9539A>C (p.Gln3180Pro) rs193251130 0.00009
NM_022124.6(CDH23):c.9238G>A (p.Ala3080Thr) rs369395479 0.00009
NM_133433.4(NIPBL):c.1151A>G (p.Asn384Ser) rs2291703 0.00009
NM_201548.5(CERKL):c.677+578T>C rs200512836 0.00009
NM_000744.7(CHRNA4):c.402G>A (p.Ala134=) rs201488442 0.00008
NM_001110792.2(MECP2):c.1473G>A (p.Thr491=) rs587781033 0.00008
NM_001267550.2(TTN):c.34216C>A (p.Pro11406Thr) rs532102837 0.00008
NM_001429.4(EP300):c.6729C>T (p.Gly2243=) rs765194008 0.00008
NM_004937.3(CTNS):c.356G>A (p.Arg119His) rs375970075 0.00008
NM_006031.6(PCNT):c.8895G>A (p.Ala2965=) rs572222540 0.00008
NM_006059.4(LAMC3):c.4068G>A (p.Ala1356=) rs377618961 0.00008
NM_015295.3(SMCHD1):c.2147-5C>T rs184984483 0.00008
NM_021167.5(GATAD1):c.558G>A (p.Thr186=) rs141932124 0.00008
NM_024408.4(NOTCH2):c.1315G>A (p.Ala439Thr) rs199565938 0.00008
NM_001110792.2(MECP2):c.1197C>T (p.Pro399=) rs61750246 0.00007
NM_014780.5(CUL7):c.2603A>G (p.Asn868Ser) rs149360738 0.00007
NM_201384.3(PLEC):c.2978G>A (p.Arg993Gln) rs534045685 0.00007
NM_000070.3(CAPN3):c.1017G>A (p.Thr339=) rs141934227 0.00006
NM_000181.4(GUSB):c.678C>T (p.Thr226=) rs537957979 0.00006
NM_001032221.6(STXBP1):c.888C>T (p.Ile296=) rs201302013 0.00006
NM_001267550.2(TTN):c.22077A>T (p.Gly7359=) rs202102237 0.00006
NM_002025.4(AFF2):c.2196C>T (p.Val732=) rs202015083 0.00006
NM_004595.5(SMS):c.569C>T (p.Thr190Ile) rs201275730 0.00006
NM_017780.4(CHD7):c.2680A>G (p.Thr894Ala) rs377662366 0.00006
NM_018100.4(EFHC1):c.1812A>C (p.Glu604Asp) rs369503191 0.00006
NM_018136.5(ASPM):c.2914T>G (p.Leu972Val) rs552158003 0.00006
NM_025193.4(HSD3B7):c.71A>G (p.His24Arg) rs201796375 0.00006
NM_025265.4(TSEN2):c.870A>G (p.Pro290=) rs542708828 0.00006
NM_032119.4(ADGRV1):c.9366A>G (p.Thr3122=) rs200412477 0.00006
NM_181486.4(TBX5):c.786C>T (p.Thr262=) rs375955080 0.00006
NM_201384.3(PLEC):c.6059A>C (p.Glu2020Ala) rs367662560 0.00006
NM_000053.4(ATP7B):c.2310C>G (p.Leu770=) rs398123136 0.00005
NM_000219.6(KCNE1):c.30G>A (p.Thr10=) rs187686559 0.00005
NM_000492.4(CFTR):c.3469-20T>C rs373002889 0.00005
NM_001164508.2(NEB):c.10463G>A (p.Arg3488His) rs371605774 0.00005
NM_001164508.2(NEB):c.863A>G (p.Lys288Arg) rs202035863 0.00005
NM_001267550.2(TTN):c.72113C>T (p.Thr24038Met) rs370375696 0.00005
NM_004260.4(RECQL4):c.755C>T (p.Pro252Leu) rs199773279 0.00005
NM_004560.4(ROR2):c.1712A>G (p.His571Arg) rs376970201 0.00005
NM_012470.4(TNPO3):c.2431-6A>C rs190759031 0.00005
NM_015272.5(RPGRIP1L):c.255A>G (p.Leu85=) rs143189638 0.00005
NM_145239.3(PRRT2):c.773G>A (p.Gly258Glu) rs560303559 0.00005
NM_182961.4(SYNE1):c.1113A>G (p.Pro371=) rs374376301 0.00005
NM_000337.6(SGCD):c.15G>C (p.Glu5Asp) rs549319429 0.00004
NM_000535.7(PMS2):c.*17G>C rs556089649 0.00004
NM_000744.7(CHRNA4):c.383+7C>T rs200690355 0.00004
NM_001039213.4(CEACAM16):c.51T>C (p.Asn17=) rs202230938 0.00004
NM_001098671.2(RASGRP2):c.240-6C>T rs201340963 0.00004
NM_001110556.2(FLNA):c.4232C>T (p.Ser1411Leu) rs782426283 0.00004
NM_001918.5(DBT):c.1210-10_1210-9del rs794726986 0.00004
NM_004006.3(DMD):c.4275A>G (p.Glu1425=) rs72468647 0.00004
NM_014141.6(CNTNAP2):c.3716-6C>G rs77025884 0.00004
NM_015272.5(RPGRIP1L):c.3395A>G (p.Gln1132Arg) rs561414163 0.00004
NM_015295.3(SMCHD1):c.321A>G (p.Leu107=) rs567120742 0.00004
NM_015404.4(WHRN):c.933A>C (p.Pro311=) rs569159249 0.00004
NM_023036.6(DNAI2):c.933G>A (p.Lys311=) rs570168701 0.00004
NM_182961.4(SYNE1):c.4610G>A (p.Arg1537Gln) rs369775705 0.00004
NM_000256.3(MYBPC3):c.1790+7G>A rs374852831 0.00003
NM_000283.4(PDE6B):c.132C>G (p.Cys44Trp) rs199974771 0.00003
NM_000426.4(LAMA2):c.5688C>T (p.His1896=) rs573779258 0.00003
NM_000441.2(SLC26A4):c.1363A>T (p.Ile455Phe) rs375576481 0.00003
NM_001367721.1(CASK):c.1669-9C>A rs562152407 0.00003
NM_001614.5(ACTG1):c.693A>G (p.Ala231=) rs534061526 0.00003
NM_002547.3(OPHN1):c.1008C>T (p.Asp336=) rs780149034 0.00003
NM_004380.3(CREBBP):c.5115C>T (p.Tyr1705=) rs200287696 0.00003
NM_004562.3(PRKN):c.1017G>A (p.Ala339=) rs546676036 0.00003
NM_014795.4(ZEB2):c.2255C>T (p.Thr752Met) rs143438888 0.00003
NM_022124.6(CDH23):c.9014C>G (p.Ala3005Gly) rs188966938 0.00003
NM_032578.4(MYPN):c.3417C>T (p.Arg1139=) rs144488384 0.00003
NM_130837.3(OPA1):c.448+50A>G rs377239493 0.00003
NM_139343.3(BIN1):c.1003-16C>T rs547659375 0.00003
NM_201384.3(PLEC):c.13575G>A (p.Ser4525=) rs549882307 0.00003
NM_201384.3(PLEC):c.3191G>A (p.Arg1064His) rs571362398 0.00003
NM_201384.3(PLEC):c.4083G>A (p.Arg1361=) rs377619355 0.00003
NM_000152.5(GAA):c.2668G>C (p.Val890Leu) rs377286472 0.00002
NM_000214.3(JAG1):c.388-4G>C rs567027490 0.00002
NM_000452.3(SLC10A2):c.190C>T (p.Arg64Trp) rs142620512 0.00002
NM_001042432.2(CLN3):c.240G>A (p.Thr80=) rs373911322 0.00002
NM_001110556.2(FLNA):c.4420G>A (p.Asp1474Asn) rs782129236 0.00002
NM_001164508.2(NEB):c.11181T>A (p.Asp3727Glu) rs551261559 0.00002
NM_001267550.2(TTN):c.24075T>G (p.Ile8025Met) rs371496970 0.00002
NM_001267550.2(TTN):c.67809G>A (p.Ala22603=) rs548223512 0.00002
NM_001267550.2(TTN):c.75745C>T (p.Arg25249Cys) rs397517702 0.00002
NM_001278116.2(L1CAM):c.3015C>T (p.Ile1005=) rs202082978 0.00002
NM_001849.4(COL6A2):c.1945G>A (p.Ala649Thr) rs142002945 0.00002
NM_001853.4(COL9A3):c.325C>T (p.Pro109Ser) rs774823793 0.00002
NM_003482.4(KMT2D):c.5477G>T (p.Gly1826Val) rs574989512 0.00002
NM_006059.4(LAMC3):c.3624G>A (p.Glu1208=) rs569440839 0.00002
NM_007126.5(VCP):c.2214A>G (p.Glu738=) rs374391034 0.00002
NM_020631.6(PLEKHG5):c.440-10C>T rs201656051 0.00002
NM_024408.4(NOTCH2):c.6924G>A (p.Gln2308=) rs376191548 0.00002
NM_000052.7(ATP7A):c.3416A>G (p.Asp1139Gly) rs782154314 0.00001
NM_000138.5(FBN1):c.75G>A (p.Ala25=) rs543230518 0.00001
NM_000203.5(IDUA):c.1771G>A (p.Ala591Thr) rs398123257 0.00001
NM_000214.3(JAG1):c.2559C>T (p.Ala853=) rs201234393 0.00001
NM_000742.4(CHRNA2):c.489C>T (p.Ala163=) rs535699325 0.00001
NM_001029883.3(PCARE):c.1882G>A (p.Ala628Thr) rs571059484 0.00001
NM_001035.3(RYR2):c.3537T>C (p.Gly1179=) rs397516526 0.00001
NM_001128178.3(NPHP1):c.859+5T>C rs374379957 0.00001
NM_001130987.2(DYSF):c.1134T>C (p.Pro378=) rs571559303 0.00001
NM_001193315.2(VIPAS39):c.1014C>T (p.Phe338=) rs199839422 0.00001
NM_001203.3(BMPR1B):c.247-4A>G rs570808649 0.00001
NM_001267550.2(TTN):c.104347C>T (p.Leu34783Phe) rs539735520 0.00001
NM_001267550.2(TTN):c.61224G>A (p.Val20408=) rs566188777 0.00001
NM_001267550.2(TTN):c.72105T>C (p.Phe24035=) rs397517691 0.00001
NM_001267550.2(TTN):c.89989T>A (p.Leu29997Met) rs369855092 0.00001
NM_001267550.2(TTN):c.91643C>T (p.Ala30548Val) rs553668520 0.00001
NM_001277313.2(FMN1):c.3708T>C (p.Tyr1236=) rs370853923 0.00001
NM_001360.3(DHCR7):c.226G>A (p.Val76Ile) rs368473756 0.00001
NM_001367721.1(CASK):c.2019T>G (p.Pro673=) rs546044640 0.00001
NM_001374353.1(GLI2):c.2657C>G (p.Thr886Ser) rs572826436 0.00001
NM_001458.5(FLNC):c.3506A>G (p.Lys1169Arg) rs530742766 0.00001
NM_004006.3(DMD):c.6140A>G (p.Gln2047Arg) rs773782786 0.00001
NM_004006.3(DMD):c.8945G>A (p.Arg2982Gln) rs750579766 0.00001
NM_004369.4(COL6A3):c.1587A>G (p.Leu529=) rs574912582 0.00001
NM_006790.3(MYOT):c.630G>A (p.Ser210=) rs375308029 0.00001
NM_014425.5(INVS):c.1980A>G (p.Gly660=) rs139314036 0.00001
NM_014795.4(ZEB2):c.2203C>T (p.Pro735Ser) rs144154908 0.00001
NM_015295.3(SMCHD1):c.3519A>G (p.Ile1173Met) rs536643888 0.00001
NM_015311.3(OBSL1):c.600G>A (p.Arg200=) rs373739744 0.00001
NM_022437.3(ABCG8):c.1117T>C (p.Cys373Arg) rs554680915 0.00001
NM_024408.4(NOTCH2):c.2026+6G>T rs587731563 0.00001
NM_024757.5(EHMT1):c.3687C>T (p.Thr1229=) rs201655114 0.00001
NM_032119.4(ADGRV1):c.13654-5C>T rs367554300 0.00001
NM_032119.4(ADGRV1):c.8730+9C>T rs886043931 0.00001
NM_133642.5(LARGE1):c.251G>C (p.Ser84Thr) rs398124184 0.00001
NM_152564.5(VPS13B):c.8171A>G (p.Tyr2724Cys) rs138453594 0.00001
NM_153026.3(PRICKLE1):c.1176T>C (p.Phe392=) rs571386763 0.00001
NM_170699.3(GPBAR1):c.505G>A (p.Glu169Lys) rs200096596 0.00001
NM_181332.3(NLGN4X):c.2223C>T (p.His741=) rs541646409 0.00001
NM_182914.3(SYNE2):c.5608A>C (p.Ser1870Arg) rs368227332 0.00001
NM_182914.3(SYNE2):c.9974C>T (p.Ala3325Val) rs377173620 0.00001
NM_182961.4(SYNE1):c.11238A>G (p.Lys3746=) rs149393972 0.00001
NM_182961.4(SYNE1):c.4889C>T (p.Ala1630Val) rs566004273 0.00001
NM_182961.4(SYNE1):c.7611G>T (p.Arg2537Ser) rs568309673 0.00001
NM_201384.3(PLEC):c.12549C>T (p.Ile4183=) rs199512865 0.00001
NM_201384.3(PLEC):c.465G>A (p.Ser155=) rs398123399 0.00001
NC_000012.12:g.121626879_121626884delACCGCC
NM_000019.4(ACAT1):c.*6dup rs111390656
NM_000019.4(ACAT1):c.436-4G>A rs3741050
NM_000019.4(ACAT1):c.941-15_941-14del rs5794588
NM_000023.4(SGCA):c.38-46G>C rs142537375
NM_000026.4(ADSL):c.216C>T (p.Ile72=) rs145786986
NM_000030.3(AGXT):c.32C>T (p.Pro11Leu) rs34116584
NM_000033.4(ABCD1):c.1489-24C>G rs149185761
NM_000033.4(ABCD1):c.1489-6del rs398123101
NM_000035.4(ALDOB):c.759C>T (p.Thr253=) rs146360505
NM_000036.3(AMPD1):c.224G>A (p.Arg75His) rs61738827
NM_000036.3(AMPD1):c.382-6del rs727503806
NM_000038.6(APC):c.3462AGA[2] (p.Glu1157del) rs386833391
NM_000044.6(AR):c.171GCA[25] (p.Gln79_Gln80dup) rs3032358
NM_000049.4(ASPA):c.693C>T (p.Tyr231=) rs12948217
NM_000049.4(ASPA):c.831C>T (p.Thr277=) rs78677072
NM_000051.4(ATM):c.5948= (p.Ser1983=) rs659243
NM_000052.7(ATP7A):c.4048= (p.Lys1350=) rs4826245
NM_000059.4(BRCA2):c.4090A>C (p.Ile1364Leu) rs56248502
NM_000059.4(BRCA2):c.6513G>C (p.Val2171=) rs206076
NM_000059.4(BRCA2):c.7242A>G (p.Ser2414=) rs1799955
NM_000071.3(CBS):c.*10C>A rs9978104
NM_000071.3(CBS):c.845_846insGAAGGGTCCATCCTCGCAGAGCCGGAGGAGCTGAACCAGACGGAGCAGACAACCTACGAGGTGGAACC (p.Pro282_Glu283insLysGlyProSerSerGlnSerArgArgSerTer) rs786200967
NM_000080.4(CHRNE):c.1219+17_1219+22del rs148340961
NM_000080.4(CHRNE):c.1402G>C (p.Val468Leu) rs139171143
NM_000088.4(COL1A1):c.1300-8C>T rs41317361
NM_000089.4(COL1A2):c.1252-7dup rs35587403
NM_000089.4(COL1A2):c.226-11dup rs199593359
NM_000089.4(COL1A2):c.71-7del rs144776919
NM_000090.4(COL3A1):c.1348-4dup rs758567906
NM_000092.5(COL4A4):c.2367A>T (p.Gly789=) rs56247709
NM_000093.5(COL5A1):c.4482G>A (p.Pro1494=) rs2228560
NM_000095.3(COMP):c.218-14C>T rs150008764
NM_000096.4(CP):c.2286-15G>T rs34861155
NM_000124.4(ERCC6):c.3284C>G (p.Pro1095Arg) rs4253208
NM_000138.5(FBN1):c.6832C>T (p.Pro2278Ser) rs363835
NM_000147.5(FUCA1):c.29C>G (p.Pro10Arg) rs2070956
NM_000152.5(GAA):c.858+6GCGGCGG[3] rs1555599723
NM_000152.5(GAA):c.858+7_858+8insAGCAGGC rs3071247
NM_000152.5(GAA):c.858+7_858+8insAGCGGGC rs3071247
NM_000153.4(GALC):c.1162-4del rs11300320
NM_000155.4(GALT):c.414G>T (p.Thr138=) rs116479817
NM_000155.4(GALT):c.508-17G>A rs12000481
NM_000168.6(GLI3):c.2826G>C (p.Pro942=) rs34245321
NM_000168.6(GLI3):c.3083_3084delinsTT (p.Ser1028Ile) rs886043721
NM_000169.3(GLA):c.370-81_370-77del rs5903184
NM_000179.3(MSH6):c.3246G>T (p.Pro1082=) rs3136351
NM_000179.3(MSH6):c.3646+35_3646+38del rs1805181
NM_000179.3(MSH6):c.3646+91T>C rs3136359
NM_000179.3(MSH6):c.4001+2TAAC[2] rs267608132
NM_000181.4(GUSB):c.724+23TC[3] rs3830444
NM_000183.3(HADHB):c.5_7dup (p.Thr2dup) rs3839049
NM_000194.3(HPRT1):c.319-7del rs371480320
NM_000199.5(SGSH):c.1159G>A (p.Val387Met) rs62620232
NM_000199.5(SGSH):c.664-39_664-36delinsGC rs386799751
NM_000203.5(IDUA):c.1190-10del rs150523349
NM_000203.5(IDUA):c.1190-10dup rs150523349
NM_000203.5(IDUA):c.1230C>G (p.Thr410=) rs115790973
NM_000203.5(IDUA):c.314G>A (p.Arg105Gln) rs3755955
NM_000203.5(IDUA):c.590-8C>T rs6848974
NM_000208.4(INSR):c.1650G>A (p.Ala550=) rs2059806
NM_000208.4(INSR):c.653-23TC[11] rs3835070
NM_000208.4(INSR):c.653-23TC[9] rs3835070
NM_000208.4(INSR):c.653-9_653-7delinsC rs1568470641
NM_000209.4(PDX1):c.714GCC[6] (p.Pro244_Gly245insPro) rs193922357
NM_000214.3(JAG1):c.294C>T (p.Ser98=) rs79338570
NM_000218.3(KCNQ1):c.1343C>G (p.Pro448Arg) rs12720449
NM_000218.3(KCNQ1):c.160_168dup (p.Ile54_Pro56dup) rs397515877
NM_000231.3(SGCG):c.196-6del rs568365779
NM_000231.3(SGCG):c.196-6dup rs568365779
NM_000232.5(SGCB):c.-20del rs398123261
NM_000233.4(LHCGR):c.50_55dup (p.Leu17_Gln18dup) rs71245621
NM_000243.3(MEFV):c.414A>G (p.Gly138=) rs224224
NM_000243.3(MEFV):c.585G>A (p.Glu195=) rs200766991
NM_000243.3(MEFV):c.586G>T (p.Gly196Trp) rs104895179
NM_000249.4(MLH1):c.885-21TC[2] rs267607804
NM_000256.3(MYBPC3):c.506-12del rs11570050
NM_000256.3(MYBPC3):c.530G>C (p.Arg177Pro) rs201012766
NM_000257.4(MYH7):c.3337-4dup rs45504498
NM_000260.4(MYO7A):c.133-7C>T rs111033221
NM_000260.4(MYO7A):c.3503+12_3503+33del rs111033223
NM_000260.4(MYO7A):c.5860C>A (p.Leu1954Ile) rs948962
NM_000263.4(NAGLU):c.2209C>A (p.Arg737Ser) rs86312
NM_000263.4(NAGLU):c.2209C>G (p.Arg737Gly) rs86312
NM_000263.4(NAGLU):c.933C>G (p.Ala311=) rs115888189
NM_000264.5(PTCH1):c.-24GGC[8] rs71366293
NM_000264.5(PTCH1):c.3944C>T (p.Pro1315Leu) rs357564
NM_000264.5(PTCH1):c.4080C>T (p.Ser1360=) rs62637631
NM_000271.5(NPC1):c.1947+10G>A rs71534236
NM_000271.5(NPC1):c.1947+10G>C rs71534236
NM_000271.5(NPC1):c.1947+6dup rs1555634619
NM_000271.5(NPC1):c.1947+8_1947+11dup rs3837910
NM_000271.5(NPC1):c.1947+8dup rs3837910
NM_000271.5(NPC1):c.1947+9_1947+10insC rs1555634683
NM_000271.5(NPC1):c.2131-6_2131-4del rs11299077
NM_000275.3(OCA2):c.722C>G (p.Pro241Arg) rs2305253
NM_000277.3(PAH):c.510-20_510-18dup rs398123293
NM_000278.5(PAX2):c.43+10G>C rs4472867
NM_000282.4(PCCA):c.184-17_184-16del rs111778723
NM_000282.4(PCCA):c.231+47_231+50del rs147037340
NM_000286.3(PEX12):c.681-3_681-2del rs138568975
NM_000287.4(PEX6):c.*438TAAA[1] rs144286892
NM_000287.4(PEX6):c.1234-8_1234-7dup rs200121485
NM_000287.4(PEX6):c.235G>C (p.Ala79Pro) rs61752141
NM_000288.4(PEX7):c.748-5del rs563675060
NM_000288.4(PEX7):c.748-5dup rs563675060
NM_000303.3(PMM2):c.179-15dup rs145496357
NM_000303.3(PMM2):c.447+19T>C rs11074924
NM_000308.4(CTSA):c.33GCT[7] (p.Leu19del) rs72555383
NM_000314.8(PTEN):c.254-30dup rs77494260
NM_000314.8(PTEN):c.802-3dup rs34003473
NM_000314.8(PTEN):c.802-4_802-3dup rs34003473
NM_000321.3(RB1):c.1422-8del rs747048469
NM_000321.3(RB1):c.45_53del (p.Ala16_Ala18del) rs572454921
NM_000334.4(SCN4A):c.1845+7A>G rs141021600
NM_000334.4(SCN4A):c.612-17del rs542836462
NM_000335.5(SCN5A):c.5848G>T (p.Val1950Leu) rs41315493
NM_000337.6(SGCD):c.699+13_699+15del rs397517924
NM_000350.3(ABCA4):c.1356+10dup rs281865386
NM_000350.3(ABCA4):c.1356+5_1356+6insC rs1553193877
NM_000350.3(ABCA4):c.4203C>T (p.Pro1401=) rs1801666
NM_000350.3(ABCA4):c.6006-16G>A rs4147863
NM_000350.3(ABCA4):c.618C>G (p.Ser206Arg) rs61748536
NM_000363.5(TNNI3):c.12-7del rs370714315
NM_000368.5(TSC1):c.2626-4dup rs5901000
NM_000368.5(TSC1):c.2626-5_2626-4del rs5901000
NM_000370.3(TTPA):c.359-3del rs398123340
NM_000381.4(MID1):c.661-22_661-21dup rs375668839
NM_000381.4(MID1):c.661-7dup rs375668839
NM_000381.4(MID1):c.661-8_661-7del rs375668839
NM_000383.4(AIRE):c.834C>G (p.Ser278Arg) rs1800520
NM_000384.3(APOB):c.12940A>G (p.Ile4314Val)
NM_000384.3(APOB):c.13451C>T (p.Thr4484Met)
NM_000388.4(CASR):c.78C>G (p.Ala26=) rs77852524
NM_000390.4(CHM):c.1100G>T (p.Arg367Leu) rs76191025
NM_000392.5(ABCC2):c.3542G>T (p.Arg1181Leu) rs8187692
NM_000392.5(ABCC2):c.3972C>T (p.Ile1324=) rs3740066
NM_000393.5(COL5A2):c.1455+6G>T rs113512079
NM_000404.4(GLB1):c.792+10G>T rs79518579
NM_000426.4(LAMA2):c.2756G>T (p.Arg919Leu) rs35277491
NM_000426.4(LAMA2):c.3175-32_3175-31del rs372962551
NM_000426.4(LAMA2):c.5072-6del rs398123376
NM_000426.4(LAMA2):c.5530C>A (p.Arg1844Ser) rs56173620
NM_000428.3(LTBP2):c.110G>T (p.Arg37Met) rs934996
NM_000433.4(NCF2):c.1183C>T (p.Arg395Trp) rs13306575
NM_000436.4(OXCT1):c.480G>A (p.Gly160=) rs78432029
NM_000443.4(ABCB4):c.3486+10dup rs8187809
NM_000458.4(HNF1B):c.684C>G (p.Asn228Lys)
NM_000466.3(PEX1):c.1142C>A (p.Ala381Asp) rs73404416
NM_000466.3(PEX1):c.2584-21dup rs5885806
NM_000489.6(ATRX):c.2595C>G (p.His865Gln) rs61752455
NM_000489.6(ATRX):c.4365GGA[4] (p.Glu1464del) rs398123423
NM_000492.3(CFTR):c.1210-12T[9] rs1805177
NM_000492.4(CFTR):c.1210-14_1210-13insTG rs796065326
NM_000492.4(CFTR):c.1251C>A (p.Asn417Lys) rs4727853
NM_000492.4(CFTR):c.1254T>C (p.Asn418=) rs62469440
NM_000492.4(CFTR):c.744-33GATT[8] rs1805171
NM_000493.4(COL10A1):c.*6_*7insCCC rs140722
NM_000500.9(CYP21A2):c.1481G>A (p.Ser494Asn) rs6473
NM_000500.9(CYP21A2):c.17TGC[4] (p.Leu10del) rs61338903
NM_000500.9(CYP21A2):c.293-13C>A rs6467
NM_000501.4(ELN):c.1264G>A (p.Gly422Ser) rs2071307
NM_000501.4(ELN):c.1269C>T (p.Val423=) rs61734583
NM_000515.5(GH1):c.7A>G (p.Thr3Ala) rs2001345
NM_000521.4(HEXB):c.902-48del rs78084621
NM_000523.4(HOXD13):c.183_191del (p.Ala69_Ala71del) rs749930395
NM_000528.4(MAN2B1):c.935C>T (p.Thr312Ile) rs1054487
NM_000531.6(OTC):c.299-8del rs764551624
NM_000535.7(PMS2):c.1437C>G (p.His479Gln) rs63750685
NM_000535.7(PMS2):c.1688G>T (p.Arg563Leu) rs63750668
NM_000535.7(PMS2):c.706-4dup rs60794673
NM_000535.7(PMS2):c.706-6_706-4del rs60794673
NM_000540.3(RYR1):c.10188C>T (p.Asp3396=) rs2229145
NM_000540.3(RYR1):c.12990C>T (p.Thr4330=) rs184450380
NM_000540.3(RYR1):c.14256A>C (p.Thr4752=) rs1468571
NM_000540.3(RYR1):c.7584C>T (p.Pro2528=) rs1465698
NM_000543.4(SMPD1):c.126_143del (p.Ala44_Leu49del) rs3838786
NM_000543.5(SMPD1):c.107_118del (p.Val36_Leu39del) rs550365194
NM_000543.5(SMPD1):c.107_124del (p.Val36_Leu41del) rs794726889
NM_000543.5(SMPD1):c.108GCTGGC[5] (p.38AL[5]) rs3838786
NM_000548.5(TSC2):c.1869C>T (p.Ala623=) rs111244727
NM_000548.5(TSC2):c.4524CTT[1] (p.Phe1510del) rs137854239
NM_000548.5(TSC2):c.5106C>A (p.Ile1702=) rs45483700
NM_000660.7(TGFB1):c.1010G>C (p.Ser337Thr) rs199699574
NM_000660.7(TGFB1):c.713-8del rs55659002
NM_000702.4(ATP1A2):c.13-11_13-8del rs373796693
NM_000709.4(BCKDHA):c.114C>G (p.Pro38=) rs11549935
NM_000709.4(BCKDHA):c.114C>T (p.Pro38=) rs11549935
NM_000709.4(BCKDHA):c.376-8A>C rs398123501
NM_000709.4(BCKDHA):c.996-33dup rs3217385
NM_000719.7(CACNA1C):c.5680+11C>T rs66611965
NM_000744.7(CHRNA4):c.1209G>T (p.Pro403=) rs2229959
NM_000784.4(CYP27A1):c.1471G>T (p.Ala491Ser) rs72551323
NM_000843.4(GRM6):c.1307_1308delinsTC (p.Thr436Ile) rs797044771
NM_000843.4(GRM6):c.2054C>G (p.Ser685Trp) rs144657366
NM_000843.4(GRM6):c.727G>T (p.Val243Phe) rs17078894
NM_000939.4(POMC):c.280AGCAGCGGC[3] (p.94SSG[3]) rs10654394
NM_001003722.2(GLE1):c.433-12_433-10del rs60154464
NM_001003722.2(GLE1):c.433-13_433-10del rs60154464
NM_001005242.3(PKP2):c.1557-8dup rs200009796
NM_001005361.3(DNM2):c.162-7C>A rs148318860
NM_001017995.3(SH3PXD2B):c.1612GAGCGG[2] (p.538ER[2]) rs534091900
NM_001018113.3(FANCB):c.1105-26TATT[7] rs398123537
NM_001018113.3(FANCB):c.1327-3del rs202067682
NM_001024630.4(RUNX2):c.225GGCGGCTGCGGCGGCGGC[1] (p.Ala84_Ala89del) rs11498192
NM_001025295.3(IFITM5):c.120G>T (p.Ser40=) rs79625057
NM_001029883.3(PCARE):c.3058_3059delinsAG (p.Gln1020Arg) rs796065322
NM_001029883.3(PCARE):c.3264_3266del (p.Pro1089del) rs138020654
NM_001029883.3(PCARE):c.3673_3675dupAGC
NM_001032382.2(PQBP1):c.334_354del (p.Gly113_Arg119del) rs606231198
NM_001034853.2(RPGR):c.1576CAA[1] (p.Gln527del) rs62653033
NM_001035.3(RYR2):c.14481C>A (p.Ile4827=) rs114303476
NM_001035.3(RYR2):c.3599-9del rs11331089
NM_001035.3(RYR2):c.5154G>A (p.Arg1718=) rs114534505
NM_001035.3(RYR2):c.9318T>G (p.Ser3106=) rs2797436
NM_001038.6(SCNN1A):c.541C>T (p.Arg181Trp) rs55797039
NM_001039141.3(TRIOBP):c.1193_1195del (p.Gln398del) rs55745992
NM_001039141.3(TRIOBP):c.6472+13_6472+14insT rs541980281
NM_001039141.3(TRIOBP):c.6472+15_6472+16insC rs149021782
NM_001039141.3(TRIOBP):c.6472+19dup rs3833924
NM_001039348.3(EFEMP1):c.*6del rs200536754
NM_001039770.3(TMPPE):c.-512C>G rs115554377
NM_001039958.2(MESP2):c.534GGGGCAGGGGCAAGGGCAGGGGCA[1] (p.180QG[9]) rs200021459
NM_001039958.2(MESP2):c.552GGGGCA[1] (p.180QG[11]) rs56192595
NM_001042432.2(CLN3):c.270T>C (p.Phe90=) rs145520962
NM_001042697.2(ZSWIM7):c.-86G>C rs73276077
NM_001048174.2(MUTYH):c.228C>T (p.Tyr76=) rs121908380
NM_001077365.2(POMT1):c.123-5dup rs148086540
NM_001077365.2(POMT1):c.123-6_123-5dup rs148086540
NM_001079802.2(FKTN):c.-45G>T rs77013649
NM_001079872.2(CUL4B):c.1257-9dup rs746854249
NM_001080.3(ALDH5A1):c.709G>T (p.Ala237Ser) rs62621664
NM_001080442.3(SLC38A8):c.189+11G>T rs1105355
NM_001082538.3(TCTN1):c.473-6_473-4del rs10577377
NM_001083961.2(WDR62):c.1233+15dup rs373693641
NM_001083961.2(WDR62):c.1641G>A (p.Thr547=) rs2301734
NM_001083961.2(WDR62):c.2112G>C (p.Ser704=) rs115453534
NM_001083961.2(WDR62):c.3271_3273del (p.His1091del) rs794727435
NM_001100.4(ACTA1):c.809-13dup rs201427429
NM_001100.4(ACTA1):c.809-14G>C rs6673359
NM_001100.4(ACTA1):c.809-18dup rs398123565
NM_001101426.4(CRPPA):c.685-25GTT[6] rs142647500
NM_001101426.4(CRPPA):c.836-19dup rs3839757
NM_001110556.2(FLNA):c.4737G>C (p.Leu1579=) rs201904661
NM_001110556.2(FLNA):c.7756+11= rs7063300
NM_001110792.2(MECP2):c.1169C>T (p.Ala390Val) rs201314910
NM_001110792.2(MECP2):c.33AGG[6] (p.Gly16dup) rs587783744
NM_001110792.2(MECP2):c.414-17del rs61753982
NM_001122630.2(CDKN1C):c.455CTCCGGTCGCGG[2] (p.152APVA[2]) rs565544512
NM_001122630.2(CDKN1C):c.573GGCCCC[2] (p.186AP[8]) rs759134767
NM_001122630.2(CDKN1C):c.573GGCCCC[3] (p.186AP[9]) rs759134767
NM_001127222.2(CACNA1A):c.2739C>T (p.Pro913=) rs16021
NM_001127222.2(CACNA1A):c.3601AAG[1] (p.Lys1202del) rs772989979
NM_001127222.2(CACNA1A):c.6658_6659insACC (p.His2219dup) rs768950814
NM_001127644.2(GABRA1):c.857-9del rs3214859
NM_001127671.2(LIFR):c.143-37GT[11] rs10637374
NM_001127671.2(LIFR):c.143-37GT[15] rs10637374
NM_001127671.2(LIFR):c.3288C>T (p.Asn1096=) rs3729751
NM_001128228.3(TPRN):c.894G>A (p.Glu298=) rs539737661
NM_001130987.2(DYSF):c.1944G>A (p.Pro648=) rs115849497
NM_001130987.2(DYSF):c.2421C>T (p.Ser807=) rs560856407
NM_001130987.2(DYSF):c.3239CGGAGG[3] (p.1080AE[3]) rs398123779
NM_001130987.2(DYSF):c.3588C>T (p.Ile1196=) rs79899601
NM_001130987.2(DYSF):c.4046G>T (p.Arg1349Leu) rs61742872
NM_001130987.2(DYSF):c.460+2T>G rs750356247
NM_001130987.2(DYSF):c.605C>A (p.Ala202Glu) rs34999029
NM_001130987.2(DYSF):c.605C>T (p.Ala202Val) rs34999029
NM_001134363.3(RBM20):c.2303= (p.Ser768=) rs1417635
NM_001142800.2(EYS):c.334G>A (p.Val112Ile) rs112609906
NM_001142800.2(EYS):c.359C>T (p.Thr120Met) rs12193967
NM_001142800.2(EYS):c.6079-24TC[10] rs35395170
NM_001142800.2(EYS):c.9342TGT[1] (p.Val3116del) rs536788112
NM_001145809.2(MYH14):c.192G>T (p.Gly64=) rs181055215
NM_001145809.2(MYH14):c.33G>C (p.Arg11=) rs8106196
NM_001145809.2(MYH14):c.660G>T (p.Ser220=) rs201835322
NM_001159699.2(FHL1):c.737-9dup rs374867802
NM_001161352.2(KCNMA1):c.117CTC[8] (p.Ser60dup) rs572827902
NM_001161352.2(KCNMA1):c.144TTC[3] (p.Ser60del) rs751901610
NM_001164277.2(SLC37A4):c.1067G>C (p.Ser356Thr) rs547488738
NM_001164508.2(NEB):c.11077-35CT[9] rs369065019
NM_001164508.2(NEB):c.11077-5del rs749915004
NM_001164508.2(NEB):c.154CTGGCACAGCCAGCA[1] (p.52LAQPA[1]) rs377452683
NM_001164508.2(NEB):c.17635-3del rs3214503
NM_001164508.2(NEB):c.19285_19286delinsAA (p.Ala6429Asn) rs796065338
NM_001164508.2(NEB):c.21418-6del rs56026241
NM_001164508.2(NEB):c.21546C>T (p.Asn7182=) rs149510427
NM_001164508.2(NEB):c.22161+18G>C rs6721666
NM_001165963.4(SCN1A):c.1171-10_1171-9del rs372840031
NM_001165963.4(SCN1A):c.2416-4T>G rs398123587
NM_001173467.3(SP7):c.*4G>A rs115168998
NM_001173990.3(TMEM216):c.253C>A (p.Arg85=) rs11230683
NM_001173990.3(TMEM216):c.432-1G>C rs10897158
NM_001177316.2(SLC34A3):c.*14A>C rs28591989
NM_001184.4(ATR):c.4153-21dup rs112116713
NM_001184.4(ATR):c.5739-14_5739-9del rs72272981
NM_001195248.2(APTX):c.484-25_484-4del rs778542759
NM_001195248.2(APTX):c.484-25_484-5del rs200922655
NM_001195248.2(APTX):c.484-3del rs373304582
NM_001195263.2(PDZD7):c.2335CGCAGC[4] (p.773RS[7]) rs200896335
NM_001244008.2(KIF1A):c.2721GGA[10] (p.Glu917del) rs10594016
NM_001244008.2(KIF1A):c.3072C>T (p.Ser1024=) rs73102625
NM_001252024.2(TRPM1):c.2149G>C (p.Ala717Pro) rs138944426
NM_001252024.2(TRPM1):c.4330C>T (p.Arg1444Cys) rs3784587
NM_001256789.3(CACNA1F):c.2391GGA[8] (p.Glu814dup) rs112450928
NM_001256789.3(CACNA1F):c.4180G>A (p.Gly1394Ser) rs35212576
NM_001256789.3(CACNA1F):c.5017G>T (p.Gly1673Trp) rs139409733
NM_001267550.2(TTN):c.100766-11_100766-10del rs749872538
NM_001267550.2(TTN):c.12780G>T (p.Ala4260=) rs746578
NM_001267550.2(TTN):c.15178G>C (p.Val5060Leu) rs72648929
NM_001267550.2(TTN):c.23023G>T (p.Asp7675Tyr) rs552951988
NM_001267550.2(TTN):c.23538C>G (p.Phe7846Leu) rs149523263
NM_001267550.2(TTN):c.23853C>A (p.Ala7951=) rs201766927
NM_001267550.2(TTN):c.25626G>A (p.Gln8542=) rs2562832
NM_001267550.2(TTN):c.26762-39TTTGT[10] rs71393436
NM_001267550.2(TTN):c.26762-39TTTGT[5] rs71393436
NM_001267550.2(TTN):c.26762-39TTTGT[7] rs71393436
NM_001267550.2(TTN):c.26762-39TTTGT[8] rs71393436
NM_001267550.2(TTN):c.30683-17dup rs368277751
NM_001267550.2(TTN):c.33501AGA[6] (p.Glu11172dup) rs368327166
NM_001267550.2(TTN):c.34140A>G (p.Glu11380=) rs147418835
NM_001267550.2(TTN):c.39704C>G (p.Pro13235Arg) rs72650066
NM_001267550.2(TTN):c.39731TTGCTCCTGAAGAGGAAA[1] (p.13244IAPEEE[1]) rs139512154
NM_001267550.2(TTN):c.4322G>C (p.Arg1441Pro) rs72647876
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.72033A>G (p.Pro24011=) rs72646894
NM_001267550.2(TTN):c.76739C>T (p.Thr25580Met) rs56372592
NM_001267550.2(TTN):c.86683G>A (p.Val28895Met) rs201290358
NM_001267550.2(TTN):c.8902+14_8902+16delinsA rs786200994
NM_001267550.2(TTN):c.90968G>A (p.Arg30323Lys) rs11887722
NM_001267550.2(TTN):c.91071T>G (p.Thr30357=) rs11897366
NM_001276345.2(TNNT2):c.53-11_53-7del rs45533739
NM_001277115.2(DNAH11):c.100_101delinsTT (p.Glu34Leu) rs398123604
NM_001277115.2(DNAH11):c.4378-17_4378-16insATTTA rs57952953
NM_001277313.2(FMN1):c.4030_4032del (p.Lys1344del) rs145013933
NM_001278182.2(EOMES):c.358_359insGCGCCG (p.Ala119_Ala120insGlyAla) rs1553745484
NM_001278431.2(C1QTNF5):c.583dup (p.Ala195fs) rs369839371
NM_001289.6(CLIC2):c.*19= rs559165
NM_001289104.2(PRKCSH):c.79+10_79+12del rs143936796
NM_001289104.2(PRKCSH):c.939GGA[8] (p.Glu324_Glu325del) rs3217229
NM_001289104.2(PRKCSH):c.939GGA[9] (p.Glu325del) rs3217229
NM_001291415.2(KDM6A):c.2333C>A (p.Thr778Lys) rs2230018
NM_001291415.2(KDM6A):c.2859-5del rs10605935
NM_001291415.2(KDM6A):c.2859-7_2859-5del rs10605935
NM_001291415.2(KDM6A):c.3893-6del rs748438075
NM_001291415.2(KDM6A):c.42CGC[4] (p.Ala17dup) rs797044622
NM_001291867.2(NHS):c.207GCC[3] (p.Pro73del) rs10590816
NM_001291867.2(NHS):c.566-10dup rs5901624
NM_001297.5(CNGB1):c.1089GGA[6] (p.Glu371dup) rs141566950
NM_001297.5(CNGB1):c.2664C>A (p.Ala888=) rs413562
NM_001297.5(CNGB1):c.2664C>G (p.Ala888=) rs413562
NM_001330260.2(SCN8A):c.5472C>A (p.Pro1824=) rs60637
NM_001330677.2(TBX15):c.1697T>G (p.Met566Arg) rs61730011
NM_001348946.2(ABCB1):c.2677T>A (p.Ser893Thr) rs2032582
NM_001348946.2(ABCB1):c.2677T>G (p.Ser893Ala) rs2032582
NM_001349338.3(FOXP1):c.1146+10_1146+12del rs199543140
NM_001352514.2(HLCS):c.1620+7del rs140568778
NM_001360.3(DHCR7):c.70G>T (p.Ala24Ser) rs146867923
NM_001360016.2(G6PD):c.1288-14TC[2] rs199586268
NM_001360016.2(G6PD):c.1311= (p.Tyr437=) rs2230037
NM_001365536.1(SCN9A):c.1828C>A (p.Pro610Thr) rs41268673
NM_001365536.1(SCN9A):c.1975-3del rs35888674
NM_001365536.1(SCN9A):c.1975-3dup rs35888674
NM_001365536.1(SCN9A):c.4399-10_4399-7del rs77944059
NM_001365951.3(KIF1B):c.2043-9dup rs58344165
NM_001366722.1(GRIP1):c.1355-10_1355-8del rs148083271
NM_001367624.2(ZNF469):c.10326G>C (p.Arg3442Ser) rs56236932
NM_001367624.2(ZNF469):c.1069T>C (p.Ser357Pro) rs11648572
NM_001367721.1(CASK):c.1504-6dup rs749321162
NM_001368397.1(FRMPD4):c.42-10del rs111618469
NM_001368397.1(FRMPD4):c.42-10dup rs111618469
NM_001369268.1(ACAN):c.4523A>C (p.Glu1508Ala) rs2882676
NM_001370298.3(FGD4):c.846C>G (p.Asp282Glu) rs904582
NM_001371596.2(MFSD8):c.1351-9C>A rs75039907
NM_001374353.1(GLI2):c.2136C>A (p.Phe712Leu) rs151179617
NM_001377.3(DYNC2H1):c.3574-9_3574-8del rs5794210
NM_001378120.1(MBD5):c.2605G>A (p.Val869Ile) rs116207524
NM_001378454.1(ALMS1):c.36GGA[12] (p.Glu28del) rs55889738
NM_001378454.1(ALMS1):c.36GGA[16] (p.Glu26_Glu28dup) rs55889738
NM_001378615.1(CC2D2A):c.676GAA[3] (p.Glu229del) rs386833764
NM_001379081.2(FREM1):c.5335-11dup rs140882884
NM_001379110.1(SLC9A6):c.*5_*8delinsTT rs797044655
NM_001379110.1(SLC9A6):c.448-6del rs375038684
NM_001384140.1(PCDH15):c.2885G>A (p.Arg962His) rs45483395
NM_001384140.1(PCDH15):c.4651GAA[1] (p.Glu1552del) rs561144747
NM_001384474.1(LOXHD1):c.2816AGA[3] (p.Lys942del) rs142960762
NM_001384474.1(LOXHD1):c.4148C>G (p.Thr1383Arg) rs7244681
NM_001384732.1(CPLANE1):c.4190-10_4190-9del rs111508546
NM_001384732.1(CPLANE1):c.8633-3del rs34646696
NM_001386393.1(PANK2):c.47G>C (p.Gly16Ala) rs3737084
NM_001429.4(EP300):c.*10GTA[1] rs35508493
NM_001429.4(EP300):c.3030C>G (p.Thr1010=) rs148414681
NM_001429.4(EP300):c.3143-4del rs757931697
NM_001429.4(EP300):c.3143-4dup rs757931697
NM_001429.4(EP300):c.3354C>T (p.Val1118=) rs11704815
NM_001429.4(EP300):c.730-18_730-9del rs61120041
NM_001453.3(FOXC1):c.1124GCG[7] (p.Gly380dup) rs76840944
NM_001453.3(FOXC1):c.1142_1144dup (p.Ala381dup) rs796065323
NM_001453.3(FOXC1):c.1338CGG[7] (p.Gly456del) rs398123612
NM_001453.3(FOXC1):c.1338CGG[9] (p.Gly456dup) rs398123612
NM_001458.5(FLNC):c.4737+9_4737+10del rs794727437
NM_001458.5(FLNC):c.5042C>G (p.Thr1681Arg) rs193159707
NM_001492.6(GDF1):c.456GGC[6] (p.Ala158dup) rs571387097
NM_001701.4(BAAT):c.602G>A (p.Arg201His) rs41281027
NM_001844.5(COL2A1):c.1649G>T (p.Arg550Leu) rs186233557
NM_001844.5(COL2A1):c.2673C>G (p.Gly891=) rs41272029
NM_001845.6(COL4A1):c.4002A>C (p.Gln1334His) rs3742207
NM_001848.3(COL6A1):c.1002+42_1002+43insGACGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGAGGACGGGGAGGGACGGGGAGG rs1556425767
NM_001848.3(COL6A1):c.1002+44_1002+82del rs72435610
NM_001848.3(COL6A1):c.1002+45T>C rs368643049
NM_001848.3(COL6A1):c.1002+50C>A rs11702079
NM_001848.3(COL6A1):c.1002+50C>T rs11702079
NM_001848.3(COL6A1):c.1120-12G>A rs115107397
NM_001848.3(COL6A1):c.1461+41dup rs3216137
NM_001848.3(COL6A1):c.1524+19G>C rs2276256
NM_001848.3(COL6A1):c.1814-6C>G rs182804464
NM_001848.3(COL6A1):c.1822+45C>G rs7276098
NM_001848.3(COL6A1):c.1822+45C>T rs7276098
NM_001848.3(COL6A1):c.2783G>A (p.Arg928His) rs144671871
NM_001848.3(COL6A1):c.428+39C>G rs148766287
NM_001848.3(COL6A1):c.429-19G>A rs741956
NM_001848.3(COL6A1):c.588+19dup rs111710378
NM_001849.4(COL6A2):c.1251C>T (p.Arg417=) rs61735827
NM_001849.4(COL6A2):c.1572+3G>A rs372414400
NM_001849.4(COL6A2):c.1672-24C>G rs3746995
NM_001849.4(COL6A2):c.1816+18del rs150275851
NM_001849.4(COL6A2):c.1817-3dup rs149954350
NM_001849.4(COL6A2):c.2605G>A (p.Asp869Asn) rs141021828
NM_001849.4(COL6A2):c.2697G>C (p.Thr899=) rs11554669
NM_001849.4(COL6A2):c.2697G>T (p.Thr899=) rs11554669
NM_001849.4(COL6A2):c.2871G>A (p.Leu957=) rs548194162
NM_001851.6(COL9A1):c.1728T>G (p.Pro576=) rs9346373
NM_001851.6(COL9A1):c.2034+19T>C rs13202029
NM_001852.4(COL9A2):c.1604-26CTCC[4] rs3831927
NM_001853.4(COL9A3):c.685-4G>T rs57739618
NM_001853.4(COL9A3):c.93CGGCCCCCC[1] (p.33PPG[2]) rs544133282
NM_001854.4(COL11A1):c.1792-39ATG[9] rs71752747
NM_001854.4(COL11A1):c.2143-10dup rs747240373
NM_001854.4(COL11A1):c.652-6dup rs36076089
NM_001854.4(COL11A1):c.652-7_652-6del rs36076089
NM_001875.4(CPS1):c.1030_1032delinsGCT (p.Thr344Ala) rs386654705
NM_001875.5(CPS1):c.1030A>G (p.Thr344Ala) rs1047883
NM_001875.5(CPS1):c.1030A>T (p.Thr344Ser) rs1047883
NM_001875.5(CPS1):c.1030_1032delinsTCT (p.Thr344Ser) rs386654705
NM_001876.4(CPT1A):c.556-12del rs113037606
NM_001918.5(DBT):c.1210-10del rs398123658
NM_001918.5(DBT):c.1210-4del rs201117345
NM_001918.5(DBT):c.1282-14_1282-10del rs752915898
NM_001918.5(DBT):c.251+19dup rs201469612
NM_001927.4(DES):c.114G>A (p.Ala38=) rs368901105
NM_001943.5(DSG2):c.877A>G (p.Ile293Val) rs2230234
NM_002024.6(FMR1):c.348T>C (p.Asn116=) rs782717020
NM_002024.6(FMR1):c.420-11dup rs782218323
NM_002206.3(ITGA7):c.1410-3del rs773251917
NM_002206.3(ITGA7):c.671-5C>A rs180841797
NM_002303.6(LEPR):c.1968G>C (p.Lys656Asn) rs1805094
NM_002335.4(LRP5):c.1392C>T (p.Ile464=) rs569443429
NM_002335.4(LRP5):c.34CTG[10] (p.Leu20dup) rs72555376
NM_002335.4(LRP5):c.4458G>T (p.Ser1486=) rs75571306
NM_002435.3(MPI):c.670+9A>G rs7495739
NM_002471.4(MYH6):c.3979-8C>T rs555976716
NM_002473.6(MYH9):c.5275-10del rs552643559
NM_002474.3(MYH11):c.5796C>T (p.Asn1932=) rs149529195
NM_002693.3(POLG):c.126GCA[10] (p.Gln55del) rs41550117
NM_002693.3(POLG):c.126GCA[12] (p.Gln55dup) rs41550117
NM_002693.3(POLG):c.126GCA[14] (p.Gln53_Gln55dup) rs41550117
NM_002693.3(POLG):c.126GCA[9] (p.Gln54_Gln55del) rs41550117
NM_002693.3(POLG):c.159A>G (p.Gln53=) rs587781118
NM_002693.3(POLG):c.3700C>A (p.Arg1234=) rs144346886
NM_002693.3(POLG):c.856-17CTC[4] rs200056162
NM_002755.4(MAP2K1):c.694-12TC[4] rs113913469
NM_002863.5(PYGL):c.*11del rs3216001
NM_002863.5(PYGL):c.1828-2del rs11356035
NM_002900.3(RBP3):c.837G>A (p.Thr279=) rs2376635
NM_002968.2(SALL1):c.466_477dup (p.Ser159_Gly160insSerSerSerSer) rs113614842
NM_002968.3(SALL1):c.448AGC[12] (p.Ser158_Ser159dup) rs113614842
NM_002968.3(SALL1):c.448AGC[7] (p.Ser157_Ser159del) rs113614842
NM_002968.3(SALL1):c.448AGC[9] (p.Ser159del) rs113614842
NM_002968.3(SALL1):c.478GGC[5] (p.Gly163dup) rs1555475414
NM_003019.5(SFTPD):c.199+9G>A rs6413522
NM_003036.4(SKI):c.1311C>T (p.Ala437=) rs140889128
NM_003060.4(SLC22A5):c.652+6= rs4551059
NM_003238.6(TGFB2):c.933-8_933-6del rs11285412
NM_003289.4(TPM2):c.*7C>T rs79882576
NM_003289.4(TPM2):c.300C>T (p.Asp100=) rs532190742
NM_003289.4(TPM2):c.564-19dup rs3215700
NM_003289.4(TPM2):c.773-3dup rs35401252
NM_003289.4(TPM2):c.773-4_773-3dup rs35401252
NM_003322.6(TULP1):c.371_394del (p.Asp124_Glu131del) rs281865169
NM_003361.4(UMOD):c.1372G>T (p.Val458Leu) rs55772253
NM_003361.4(UMOD):c.1458C>T (p.Tyr486=) rs141800038
NM_003361.4(UMOD):c.840C>T (p.Pro280=) rs78691203
NM_003383.5(VLDLR):c.-42GGC[5] rs71329437
NM_003482.4(KMT2D):c.11202GCA[8] (p.Gln3745dup) rs398123707
NM_003482.4(KMT2D):c.11723AGCAAC[1] (p.Gln3910_Gln3911del) rs398123709
NM_003482.4(KMT2D):c.13671+10dup rs147210845
NM_003482.4(KMT2D):c.16412+16del rs34546217
NM_003482.4(KMT2D):c.2088_2114del (p.Thr698_Pro706del) rs780334086
NM_003482.4(KMT2D):c.2250_2276del (p.746RPEEPHLSP[1]) rs587778449
NM_003482.4(KMT2D):c.2283_2309del (p.Ala765_Gln773del) rs375538882
NM_003482.4(KMT2D):c.2798-7del rs112620957
NM_003482.4(KMT2D):c.4021-15CT[2] rs55776244
NM_003482.4(KMT2D):c.8047-7dup rs200754433
NM_003611.3(OFD1):c.2052C>G (p.Ser684=) rs61742891
NM_003722.5(TP63):c.192-9_192-8del rs794727498
NM_003742.4(ABCB11):c.399C>T (p.Asn133=) rs537575091
NM_003742.4(ABCB11):c.957A>G (p.Gly319=) rs7563233
NM_004006.3(DMD):c.-114dup rs72470542
NM_004006.3(DMD):c.1869C>T (p.Leu623=) rs1800267
NM_004006.3(DMD):c.2173G>T (p.Asp725Tyr) rs398123879
NM_004006.3(DMD):c.923C>T (p.Thr308Ile) rs145064612
NM_004006.3(DMD):c.94-9dup rs3834997
NM_004183.4(BEST1):c.153-22CCACCC[2] rs398124110
NM_004183.4(BEST1):c.715-18TCC[8] rs1805182
NM_004187.5(KDM5C):c.2517-9_2517-7dup rs398124111
NM_004260.4(RECQL4):c.212A>G (p.Glu71Gly) rs34642881
NM_004281.4(BAG3):c.212G>A (p.Arg71Gln) rs35434411
NM_004281.4(BAG3):c.468GGC[4] (p.Ala160dup) rs139438727
NM_004287.5(GOSR2):c.-12G>C rs183199
NM_004287.5(GOSR2):c.7C>A (p.Pro3Thr) rs12944167
NM_004304.5(ALK):c.4297GAG[2] (p.Glu1435del) rs138827116
NM_004316.4(ASCL1):c.151CAG[13] (p.Gln62_Ala63insGln) rs3832799
NM_004316.4(ASCL1):c.151CAG[16] (p.Gln62_Ala63insGlnGlnGlnGln) rs3832799
NM_004320.6(ATP2A1):c.1614G>A (p.Thr538=) rs12596913
NM_004333.6(BRAF):c.1992+16G>C rs3789806
NM_004333.6(BRAF):c.2128-5del rs373442098
NM_004333.6(BRAF):c.2128-5dup rs373442098
NM_004369.4(COL6A3):c.1228G>A (p.Asp410Asn) rs35914491
NM_004369.4(COL6A3):c.2488G>T (p.Ala830Ser) rs77181645
NM_004369.4(COL6A3):c.4311T>C (p.Ile1437=) rs2646260
NM_004369.4(COL6A3):c.6063+13dup rs11385011
NM_004369.4(COL6A3):c.7645C>T (p.Arg2549Trp) rs151079701
NM_004369.4(COL6A3):c.8465-7del rs111494366
NM_004369.4(COL6A3):c.8491G>C (p.Asp2831His) rs36104025
NM_004369.4(COL6A3):c.8868TGC[3] (p.Ala2960del) rs35879189
NM_004380.3(CREBBP):c.2355_2366del (p.Ala787_Gln790del) rs755265819
NM_004380.3(CREBBP):c.2728A>G (p.Thr910Ala) rs143247685
NM_004380.3(CREBBP):c.2728A>T (p.Thr910Ser) rs143247685
NM_004380.3(CREBBP):c.3370-5_3370-4del rs75459669
NM_004380.3(CREBBP):c.4729-14G>C rs130008
NM_004380.3(CREBBP):c.6600GCAGCAGCAACA[1] (p.Gln2213_Gln2216del) rs750150018
NM_004380.3(CREBBP):c.6621_6629del (p.Gln2214_Gln2216del) rs727503890
NM_004380.3(CREBBP):c.6624A>C (p.Gln2208His) rs142545779
NM_004380.3(CREBBP):c.6624A>G (p.Gln2208=) rs142545779
NM_004380.3(CREBBP):c.753T>G (p.Thr251=) rs142403441
NM_004385.5(VCAN):c.6902T>A (p.Phe2301Tyr) rs160278
NM_004385.5(VCAN):c.8809G>T (p.Asp2937Tyr) rs160277
NM_004473.4(FOXE1):c.505GCC[9] (p.Ala178_Ala179del) rs71369530
NM_004519.4(KCNQ3):c.1720C>T (p.Pro574Ser) rs74582884
NM_004560.4(ROR2):c.2805C>G (p.Asp935Glu) rs41277835
NM_004562.3(PRKN):c.1138G>C (p.Val380Leu) rs1801582
NM_004612.4(TGFBR1):c.52GCG[6] (p.Ala24_Ala26del) rs11466445
NM_004615.3(TSPAN7):c.-33_-31CCG[6] rs398124180
NM_004646.4(NPHS1):c.791C>G (p.Pro264Arg) rs34982899
NM_004715.5(CTDP1):c.1728GGA[8] (p.Glu582dup) rs3833180
NM_004750.5(CRLF1):c.66GCT[3] (p.Leu26del) rs34503316
NM_004820.5(CYP7B1):c.123-9del rs8192895
NM_004820.5(CYP7B1):c.260-15dup rs8192896
NM_004836.7(EIF2AK3):c.40CTG[7] (p.Leu21del) rs1805190
NM_004870.4(MPDU1):c.403G>C (p.Ala135Pro) rs137983973
NM_004994.3(MMP9):c.1721G>C (p.Arg574Pro) rs2250889
NM_005006.7(NDUFS1):c.154-11_154-9del rs568965659
NM_005045.4(RELN):c.-24GGC[4] rs55656324
NM_005045.4(RELN):c.1290-3dup rs146986040
NM_005045.4(RELN):c.2466-7dup rs571882672
NM_005045.4(RELN):c.4937-4del rs35268159
NM_005045.4(RELN):c.4937-5_4937-4dup rs35268159
NM_005045.4(RELN):c.5211-7dup rs34125550
NM_005045.4(RELN):c.5211-9_5211-7del rs34125550
NM_005045.4(RELN):c.9370-13_9370-8del rs141397961
NM_005055.5(RAPSN):c.691-11del rs34729771
NM_005104.4(BRD2):c.1579-8del rs2066761
NM_005120.3(MED12):c.4416-77CTCTT[11] rs56658066
NM_005120.3(MED12):c.4416-77CTCTT[6] rs56658066
NM_005120.3(MED12):c.6177ACAGCA[3] (p.Gln2075_Gln2076dup) rs753370104
NM_005120.3(MED12):c.6208CAG[8] (p.Gln2076dup) rs757160341
NM_005120.3(MED12):c.6241CAG[7] (p.Gln2086dup) rs786200971
NM_005120.3(MED12):c.6321_6335del (p.Gln2111_Gln2115del) rs727503869
NM_005120.3(MED12):c.6348_6359dup (p.His2116_Gln2119dup) rs398124200
NM_005219.5(DIAPH1):c.1821TCC[10] (p.Pro620del) rs3075570
NM_005219.5(DIAPH1):c.1821TCC[12] (p.Pro620dup) rs3075570
NM_005219.5(DIAPH1):c.1821TCC[13] (p.Pro619_Pro620dup) rs3075570
NM_005445.4(SMC3):c.548-5_548-4dup rs199906378
NM_005529.7(HSPG2):c.11717G>A (p.Arg3906Gln) rs78944354
NM_005609.4(PYGM):c.1240C>G (p.Arg414Gly) rs11231866
NM_005609.4(PYGM):c.661-5C>G rs75633423
NM_005634.3(SOX3):c.711_731del (p.Ala242_Ala248del) rs776775669
NM_005670.4(EPM2A):c.136G>C (p.Ala46Pro) rs374338349
NM_005670.4(EPM2A):c.903G>C (p.Pro301=) rs141361861
NM_005802.5(TOPORS):c.74C>G (p.Ser25Trp) rs61758066
NM_005908.4(MANBA):c.2102C>T (p.Thr701Met) rs2866413
NM_006005.3(WFS1):c.1294C>G (p.Leu432Val) rs35031397
NM_006005.3(WFS1):c.1725C>T (p.Ala575=) rs2230719
NM_006005.3(WFS1):c.2158A>G (p.Ile720Val) rs1805070
NM_006005.3(WFS1):c.2370G>A (p.Ser790=) rs150936382
NM_006017.3(PROM1):c.2374-5dup rs34269395
NM_006019.4(TCIRG1):c.384C>T (p.His128=) rs3808973
NM_006059.4(LAMC3):c.2438_2439delinsAG (p.Ser813Lys) rs386738959
NM_006059.4(LAMC3):c.521_522delinsAG (p.Pro174Gln) rs386738954
NM_006086.4(TUBB3):c.167-5C>G rs147928399
NM_006204.4(PDE6C):c.252G>A (p.Leu84=) rs1131978
NM_006208.3(ENPP1):c.1437+9_1437+12del rs376640801
NM_006208.3(ENPP1):c.313+9del rs377330284
NM_006214.4(PHYH):c.415-11dup rs140309981
NM_006261.5(PROP1):c.152G>C (p.Gly51Ala) rs2233783
NM_006269.2(RP1):c.6098G>A (p.Cys2033Tyr) rs61739567
NM_006363.6(SEC23B):c.*9_*10del rs142180765
NM_006371.5(CRTAP):c.558A>G (p.Ala186=) rs35357409
NM_006516.4(SLC2A1):c.1011C>T (p.His337=) rs2229681
NM_006516.4(SLC2A1):c.588G>A (p.Pro196=) rs2229682
NM_006516.4(SLC2A1):c.679+7G>C rs13306757
NM_006516.4(SLC2A1):c.679+7G>T rs13306757
NM_006517.5(SLC16A2):c.-114GGCAGC[2] rs760787234
NM_006580.4(CLDN16):c.-45del rs368234054
NM_006790.3(MYOT):c.240C>T (p.Asn80=) rs529067126
NM_006790.3(MYOT):c.343G>A (p.Ala115Thr) rs114194130
NM_006883.2(SHOX):c.-432-96G>A rs188327789
NM_006922.4(SCN3A):c.127_129del (p.Asn43del) rs72471101
NM_006950.3(SYN1):c.1056-14_1056-8del rs377385507
NM_007078.3(LDB3):c.896+6669TC[12] rs71019410
NM_007126.5(VCP):c.1082-18_1082-8dup rs11272867
NM_007129.5(ZIC2):c.1497C>G (p.Gly499=) rs186543347
NM_007129.5(ZIC2):c.692ACC[10] (p.His239dup) rs398124241
NM_007214.5(SEC63):c.340-12_340-7delinsCCC rs1554237221
NM_007214.5(SEC63):c.340-12_340-7delinsCCCC rs1554237221
NM_007254.4(PNKP):c.538C>A (p.Arg180Ser) rs3739185
NM_007294.4(BRCA1):c.2612C>T (p.Pro871Leu) rs799917
NM_007294.4(BRCA1):c.4837A>G (p.Ser1613Gly) rs1799966
NM_007317.3(KIF22):c.267-21TTTC[2] rs794727510
NM_007317.3(KIF22):c.71-12_71-10del rs552303501
NM_012338.4(TSPAN12):c.469-12dup rs34396874
NM_012463.4(ATP6V0A2):c.2466-4_2466-3del rs370511382
NM_012470.4(TNPO3):c.2274-10del rs539653012
NM_012470.4(TNPO3):c.2655G>A (p.Val885=) rs548382251
NM_014008.5(CCDC22):c.1150C>T (p.Arg384Cys) rs143790434
NM_014008.5(CCDC22):c.747= (p.Gln249=) rs2294020
NM_014014.5(SNRNP200):c.732C>T (p.Leu244=) rs199688602
NM_014140.4(SMARCAL1):c.960C>T (p.Ala320=) rs2066513
NM_014141.6(CNTNAP2):c.2356G>T (p.Val786Leu) rs138517537
NM_014141.6(CNTNAP2):c.3716-17TCTT[3] rs142426153
NM_014208.3(DSPP):c.1063G>A (p.Val355Ile) rs61738515
NM_014244.5(ADAMTS2):c.1308G>A (p.Ala436=) rs41285549
NM_014244.5(ADAMTS2):c.47TGC[9] (p.Leu23dup) rs568040559
NM_014363.6(SACS):c.4117_4118delinsCT (p.Ala1373Leu) rs797045938
NM_014363.6(SACS):c.8873A>G (p.Lys2958Arg) rs11839380
NM_014491.3(FOXP2):c.618_620dupGCA
NM_014491.4(FOXP2):c.1770-4dup rs398005923
NM_014491.4(FOXP2):c.510ACA[4] (p.Gln191del) rs398124272
NM_014491.4(FOXP2):c.597+17T>G rs10227893
NM_014714.4(IFT140):c.1541_1542delinsAA (p.Leu514Gln) rs886043802
NM_014795.4(ZEB2):c.1410T>A (p.Thr470=) rs34890427
NM_014795.4(ZEB2):c.3067+6A>T rs143450927
NM_014846.4(WASHC5):c.333-19A>G rs2384916
NM_014920.5(CILK1):c.1106_1117del (p.Pro369_Leu372del) rs201964851
NM_014920.5(CILK1):c.534C>T (p.Ser178=) rs543243399
NM_014920.5(CILK1):c.831+5del rs200780900
NM_015139.3(SLC35D1):c.393-3del rs199880356
NM_015294.6(TRIM37):c.398C>T (p.Ala133Val) rs61758100
NM_015295.3(SMCHD1):c.174G>C (p.Ala58=) rs2430853
NM_015295.3(SMCHD1):c.4847-6del rs763328487
NM_015346.4(ZFYVE26):c.4370G>A (p.Cys1457Tyr) rs2235967
NM_015629.4(PRPF31):c.1147-9= rs655240
NM_015697.9(COQ2):c.64A>T (p.Arg22Ter) rs112033303
NM_017534.6(MYH2):c.399T>A (p.Pro133=) rs11078850
NM_017780.4(CHD7):c.2053_2058dup (p.Ala685_Lys686dup) rs377139749
NM_017780.4(CHD7):c.2377-3dup rs752271550
NM_017791.3(FLVCR2):c.543G>A (p.Val181=) rs2287016
NM_017882.3(CLN6):c.64G>T (p.Ala22Ser) rs527373013
NM_018100.4(EFHC1):c.475C>G (p.Arg159Gly) rs3804506
NM_018297.4(NGLY1):c.493-9del rs746574174
NM_018451.5(CENPJ):c.3704-14_3704-12del rs34991318
NM_018451.5(CENPJ):c.61A>G (p.Met21Val) rs35498994
NM_018451.5(CENPJ):c.61A>T (p.Met21Leu) rs35498994
NM_018714.3(COG1):c.1782G>A (p.Glu594=) rs1037256
NM_018714.3(COG1):c.903G>C (p.Gln301His) rs117208167
NM_018965.4(TREM2):c.287C>A (p.Thr96Lys) rs2234253
NM_018979.4(WNK1):c.6624C>A (p.Ser2208Arg) rs72650768
NM_019109.5(ALG1):c.208+16_208+19dup rs35400794
NM_019109.5(ALG1):c.390+13C>A rs62036244
NM_019109.5(ALG1):c.390+13C>T rs62036244
NM_019892.6(INPP5E):c.812+7_812+10del rs5901103
NM_020223.4(FAM20C):c.1690A>G (p.Asn564Asp) rs36139924
NM_020366.4(RPGRIP1):c.907-25AAT[3] rs398099213
NM_020436.5(SALL4):c.1779G>T (p.Pro593=) rs147254025
NM_020436.5(SALL4):c.2051ATG[2] (p.Asp686del) rs557068877
NM_020549.5(CHAT):c.1381G>A (p.Val461Met) rs4838544
NM_020631.6(PLEKHG5):c.2145GGA[6] (p.Glu722_Glu723del) rs113541584
NM_020631.6(PLEKHG5):c.2145GGA[7] (p.Glu723del) rs113541584
NM_020631.6(PLEKHG5):c.2319C>T (p.Pro773=) rs80031446
NM_020717.5(SHROOM4):c.3372_3383dup (p.Gln1125_Gln1128dup) rs201922875
NM_020717.5(SHROOM4):c.3393GGA[8] (p.Glu1151dup) rs143151534
NM_020717.5(SHROOM4):c.3414delinsGGAG (p.Glu1151dup) rs886044870
NM_020751.3(COG6):c.1693-4del rs66629036
NM_020751.3(COG6):c.28G>A (p.Ala10Thr) rs3812882
NM_020751.3(COG6):c.624-3dup rs397756552
NM_020822.3(KCNT1):c.2944-52CTCC[10] rs55843930
NM_020822.3(KCNT1):c.2944-52CTCC[6] rs55843930
NM_020822.3(KCNT1):c.2944-52CTCC[7] rs55843930
NM_020822.3(KCNT1):c.2944-52CTCC[8] rs55843930
NM_020822.3(KCNT1):c.2944-52CTCC[9] rs55843930
NM_020822.3(KCNT1):c.3178-26GCCCT[3] rs757968008
NM_020822.3(KCNT1):c.3178-26GCCCT[5] rs757968008
NM_021072.4(HCN1):c.192TGGCGGCGG[1] (p.Gly72_Gly74del) rs56064803
NM_021072.4(HCN1):c.203GCG[4] (p.Gly72_Gly74del) rs747975797
NM_021072.4(HCN1):c.203GCG[5] (p.Gly73_Gly74del) rs747975797
NM_021625.5(TRPV4):c.1584+18G>C rs10850750
NM_021625.5(TRPV4):c.396G>A (p.Pro132=) rs114101785
NM_022124.6(CDH23):c.5418C>G (p.Asp1806Glu) rs74145660
NM_022124.6(CDH23):c.8120_8121delinsTT (p.Pro2707Leu) rs876657422
NM_022436.3(ABCG5):c.501+11dup rs200655485
NM_022437.3(ABCG8):c.1199C>A (p.Thr400Lys) rs4148217
NM_022437.3(ABCG8):c.1412-8dup rs1553383723
NM_022437.3(ABCG8):c.1895T>C (p.Val632Ala) rs6544718
NM_022455.5(NSD1):c.4498-10del rs200890017
NM_022455.5(NSD1):c.5781C>G (p.Ala1927=) rs61749654
NM_022458.4(LMBR1):c.528C>G (p.Ala176=) rs138255184
NM_022489.4(INF2):c.1262CACCCC[2] (p.Pro425_Pro428del) rs573567814
NM_022489.4(INF2):c.1262CACCCC[3] (p.Pro427_Pro428del) rs573567814
NM_024022.2(TMPRSS3):c.617-3_617-2dup rs34966432
NM_024312.5(GNPTAB):c.1931_1932inv (p.Thr644Met)
NM_024312.5(GNPTAB):c.27G>A (p.Gln9=) rs222504
NM_024422.6(DSC2):c.2686_2687dup (p.Ala897fs) rs200056085
NM_024529.5(CDC73):c.-4dup rs545666726
NM_024570.4(RNASEH2B):c.925dup (p.Ile309fs) rs75254367
NM_024596.5(MCPH1):c.1781C>G (p.Thr594Arg) rs115033462
NM_024747.6(HPS6):c.444C>G (p.Ala148=) rs533784966
NM_024753.5(TTC21B):c.2569-10dup rs144600502
NM_024753.5(TTC21B):c.3519T>G (p.Thr1173=) rs115504901
NM_024757.5(EHMT1):c.3011G>A (p.Ser1004Asn) rs138283222
NM_024757.5(EHMT1):c.3180+10G>T rs113676865
NM_024757.5(EHMT1):c.3375-15CT[2] rs112664025
NM_024757.5(EHMT1):c.3541-13TC[3] rs10667884
NM_024757.5(EHMT1):c.432C>T (p.Ala144=) rs139461232
NM_024757.5(EHMT1):c.824-5_824-3del rs34385417
NM_025114.4(CEP290):c.3574-9del rs10717563
NM_025114.4(CEP290):c.6522+5dup rs11405846
NM_025243.4(SLC19A3):c.980-4del rs11334205
NM_030665.4(RAI1):c.3778GAG[1] (p.Glu1261del) rs149716029
NM_030665.4(RAI1):c.834GCA[10] (p.Gln289_Gln291del) rs371983878
NM_030665.4(RAI1):c.834GCA[11] (p.Gln290_Gln291del) rs371983878
NM_030665.4(RAI1):c.834GCA[12] (p.Gln291del) rs371983878
NM_030665.4(RAI1):c.834GCA[14] (p.Gln291dup) rs371983878
NM_030665.4(RAI1):c.834GCA[9] (p.Gln288_Gln291del) rs371983878
NM_031220.4(PITPNM3):c.2620-34CCTGCCCTCC[2] rs759362748
NM_031935.3(HMCN1):c.15010_15011delinsTT (p.Thr5004Phe) rs794728017
NM_032119.4(ADGRV1):c.11581-3dup rs34894132
NM_032119.4(ADGRV1):c.17017A>G (p.Lys5673Glu) rs41303350
NM_032119.4(ADGRV1):c.18311-9dup rs140911567
NM_032119.4(ADGRV1):c.18433-5del rs35858094
NM_032119.4(ADGRV1):c.5830G>A (p.Asp1944Asn) rs41302834
NM_032119.4(ADGRV1):c.5953A>G (p.Asn1985Asp) rs41303352
NM_033056.3(PCDH15):c.4368-13_4368-10dup rs530804327
NM_033056.4(PCDH15):c.4831_4834dup (p.Thr1612fs) rs545191822
NM_033056.4(PCDH15):c.5294_5302del (p.Leu1765_Pro1767del) rs557936064
NM_033056.4(PCDH15):c.5598AAC[1] (p.Thr1869del) rs113363047
NM_033641.4(COL4A6):c.1379G>A (p.Arg460Gln) rs34740537
NM_052989.3(IFT122):c.1993-7G>C rs2285354
NM_053013.4(ENO3):c.789delinsATCC (p.Ser263dup) rs1567672833
NM_053025.4(MYLK):c.3193GAA[1] (p.Glu1066del) rs75967604
NM_080680.3(COL11A2):c.2431-18del rs9280359
NM_080680.3(COL11A2):c.2484+13del rs55730247
NM_080680.3(COL11A2):c.2899-9del rs397517477
NM_080680.3(COL11A2):c.3111G>T (p.Pro1037=) rs146093235
NM_080680.3(COL11A2):c.826G>A (p.Glu276Lys) rs9277934
NM_130837.3(OPA1):c.1935+3A>G rs398124300
NM_130837.3(OPA1):c.611-19T>C rs3772393
NM_130839.5(UBE3A):c.592G>A (p.Ala198Thr) rs147145506
NM_133433.4(NIPBL):c.1495+8_1495+10del rs398124464
NM_133433.4(NIPBL):c.5863-31TA[12] rs10554564
NM_133433.4(NIPBL):c.5863-31TA[9] rs10554564
NM_133433.4(NIPBL):c.6955-9del rs757731487
NM_133642.5(LARGE1):c.1452-28C>T rs76647066
NM_138691.3(TMC1):c.238GAA[3] (p.Glu83del) rs376040866
NM_138694.4(PKHD1):c.11525G>T (p.Arg3842Leu) rs76572975
NM_138694.4(PKHD1):c.11665+40dup rs35521028
NM_138694.4(PKHD1):c.449-15TTC[2] rs545812620
NM_138694.4(PKHD1):c.5199C>A (p.Thr1733=) rs148790132
NM_138694.4(PKHD1):c.6333-8_6333-7del rs138161138
NM_138694.4(PKHD1):c.733C>T (p.Leu245=) rs111809699
NM_138694.4(PKHD1):c.8798-23del rs756671608
NM_138735.4(NRXN1):c.49GGC[7] (p.Gly17[7]) rs750165040
NM_138735.4(NRXN1):c.49[5] (p.Gly17[5]) rs750165040
NM_139058.3(ARX):c.441_464del (p.Ala148_Ala155del) rs398124510
NM_144596.4(TTC8):c.1464G>C (p.Ala488=) rs142073418
NM_144599.5(NIPA1):c.24GGC[10] (p.Ala15_Ala16dup) rs531550505
NM_144599.5(NIPA1):c.24GGC[7] (p.Ala16del) rs531550505
NM_144969.3(ZDHHC15):c.380-5dup rs751518520
NM_145200.5(CABP4):c.192C>T (p.Pro64=) rs1790765
NM_145239.3(PRRT2):c.564G>A (p.Gln188=) rs545201760
NM_145239.3(PRRT2):c.647C>T (p.Pro216Leu) rs76335820
NM_147127.5(EVC2):c.1711-11_1711-10del rs35103377
NM_147127.5(EVC2):c.3272+8G>A rs201800139
NM_147196.3(TMIE):c.367AAG[8] (p.Lys131del) rs10578999
NM_152296.5(ATP1A3):c.1323G>A (p.Ala441=) rs34578730
NM_152419.3(HGSNAT):c.710C>A (p.Pro237Gln) rs727503962
NM_152564.5(VPS13B):c.6455-4dup rs398124337
NM_152594.3(SPRED1):c.208-18G>A rs398122371
NM_153026.3(PRICKLE1):c.954C>G (p.Ser318=) rs139421676
NM_153212.3(GJB4):c.153del (p.Phe51fs) rs139849901
NM_153240.5(NPHP3):c.3126-4del rs398124547
NM_153252.5(BRWD3):c.814-16dup rs751020595
NM_153426.3(PITX2):c.46+8delinsGTT rs72554074
NM_153676.4(USH1C):c.225T>C (p.Asp75=) rs111033279
NM_153704.6(TMEM67):c.224-5_224-3del rs587779735
NM_153717.3(EVC):c.1346C>A (p.Thr449Lys) rs2302075
NM_172107.4(KCNQ2):c.1302-29TGTC[5] rs112006486
NM_172107.4(KCNQ2):c.714C>T (p.Ile238=) rs147882199
NM_172364.5(CACNA2D4):c.1359C>T (p.Tyr453=) rs573565912
NM_172364.5(CACNA2D4):c.2046C>G (p.Ala682=) rs116214586
NM_172364.5(CACNA2D4):c.76G>A (p.Ala26Thr) rs199570994
NM_173660.5(DOK7):c.220= (p.Leu74=) rs4325970
NM_178012.5(TUBB2B):c.564G>T (p.Ser188=) rs2259136
NM_181332.3(NLGN4X):c.1779C>G (p.Leu593=) rs3747334
NM_181882.3(PRX):c.4059GGA[6] (p.Glu1361del) rs139624657
NM_182760.4(SUMF1):c.*11A>T rs2633851
NM_182914.3(SYNE2):c.1129-4dup rs34440267
NM_182914.3(SYNE2):c.11944A>G (p.Asn3982Asp) rs10137972
NM_182914.3(SYNE2):c.20339G>A (p.Arg6780Gln) rs202240664
NM_182914.3(SYNE2):c.2070A>G (p.Leu690=) rs79037871
NM_182914.3(SYNE2):c.2647-4_2647-3dup rs397726340
NM_182961.4(SYNE1):c.16476A>G (p.Gln5492=) rs141380170
NM_182961.4(SYNE1):c.17203-6del rs55633181
NM_182961.4(SYNE1):c.17203-6dup rs55633181
NM_182961.4(SYNE1):c.17203-7_17203-6del rs55633181
NM_182961.4(SYNE1):c.17203-7_17203-6dup rs55633181
NM_182961.4(SYNE1):c.9495A>G (p.Glu3165=) rs6913579
NM_183050.4(BCKDHB):c.197-30A>C rs398124569
NM_183050.4(BCKDHB):c.951+48C>T rs3749896
NM_194248.3(OTOF):c.2580C>G (p.Val860=) rs2272069
NM_194248.3(OTOF):c.4936C>T (p.Pro1646Ser) rs17005371
NM_194248.3(OTOF):c.51C>T (p.Gly17=) rs142333075
NM_194318.4(B3GLCT):c.161-8dup rs757600274
NM_198506.5(LRIT3):c.1184CTT[1] (p.Ser396del) rs794727660
NM_198506.5(LRIT3):c.331C>G (p.Arg111Gly) rs79039619
NM_198525.3(KIF7):c.195G>C (p.Ala65=) rs8179066
NM_198525.3(KIF7):c.3345C>G (p.His1115Gln) rs142032413
NM_201384.3(PLEC):c.10296C>A (p.Ala3432=) rs201848957
NM_201384.3(PLEC):c.10612T>C (p.Leu3538=) rs6992333
NM_201384.3(PLEC):c.2178+9C>G rs114256617
NM_201384.3(PLEC):c.3745C>A (p.Arg1249=) rs201552166
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.5082G>A (p.Leu1694=) rs182961574
NM_201384.3(PLEC):c.5922G>C (p.Gln1974His) rs202190540
NM_201384.3(PLEC):c.8430C>G (p.Ile2810Met) rs62641758
NM_201384.3(PLEC):c.8445T>A (p.Val2815=) rs371421350
NM_201384.3(PLEC):c.8593C>G (p.Leu2865Val) rs201422698
NM_201525.4(ADGRG1):c.843C>G (p.Ser281Arg) rs1801257
NM_203486.3(DLL3):c.546C>G (p.Ala182=) rs8106337
NM_206883.2(SLC26A5):c.292+8_292+9dup rs112791865
NM_206933.4(USH2A):c.11549-5del rs34565443
NM_206933.4(USH2A):c.11549-5dup rs34565443
NM_206933.4(USH2A):c.11602A>G (p.Met3868Val) rs35309576
NM_206933.4(USH2A):c.14513G>A (p.Gly4838Glu) rs41315587
NM_206933.4(USH2A):c.15428G>A (p.Arg5143His) rs111033435
NM_206933.4(USH2A):c.6510T>G (p.Ser2170Arg) rs373604102
NM_206965.2(FTCD):c.1392C>G (p.Ala464=) rs1047179
NM_207122.2(EXT2):c.28C>A (p.Arg10=) rs4755228
NM_207122.2(EXT2):c.520A>C (p.Met174Leu) rs111589746
NM_207346.3(TSEN54):c.1120C>G (p.Arg374Gly) rs201351319
NM_207346.3(TSEN54):c.1120_1122delinsGGC (p.Arg374Gly) rs1555644694
NM_207361.6(FREM2):c.7520-5dup rs36084034
NM_207361.6(FREM2):c.7520-6_7520-5dup rs36084034
NM_213599.3(ANO5):c.2236-10dup rs72105710
NM_213599.3(ANO5):c.2236-11_2236-10dup rs72105710
NM_213599.3(ANO5):c.2236-12_2236-10del rs72105710
NM_213599.3(ANO5):c.2236-13_2236-10del rs72105710
NM_213599.3(ANO5):c.2646C>G (p.Asn882Lys) rs34969327
NM_213599.3(ANO5):c.364-8del rs146983312
NM_213599.3(ANO5):c.364-8dup rs146983312
NM_213599.3(ANO5):c.966A>T (p.Leu322Phe) rs7481951
Single allele

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.