ClinVar Miner

List of variants reported as benign by Mendelics

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2092
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HGVS dbSNP gnomAD frequency
NM_006514.4(SCN10A):c.5137A>G (p.Met1713Val) rs6599241 1.00000
NM_014334.4(FRRS1L):c.-3C>G rs10979724 0.99999
NM_000208.4(INSR):c.5C>G (p.Ala2Gly) rs7508518 0.99996
NM_015330.6(SPECC1L):c.2851G>A (p.Val951Met) rs204718 0.99996
NM_000268.4(NF2):c.1575-67G>A rs140086 0.99995
NM_001278116.2(L1CAM):c.-109+1811dup rs77883713 0.99995
NM_004813.4(PEX16):c.346G>A (p.Val116Ile) rs10742772 0.99994
NM_030957.4(ADAMTS10):c.3303T>G (p.His1101Gln) rs7252299 0.99986
NM_030928.4(CDT1):c.700T>C (p.Cys234Arg) rs507329 0.99944
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_053025.4(MYLK):c.1486C>G (p.Leu496Val) rs9833275 0.99852
NM_000123.4(ERCC5):c.3157G>C (p.Gly1053Arg) rs9514066 0.99822
NM_001163435.3(TBCK):c.796C>G (p.Gln266Glu) rs3775091 0.99817
NM_198569.3(ADGRG6):c.3380A>G (p.Gln1127Arg) rs1262686 0.99767
NM_052844.4(DYNC2I2):c.178T>G (p.Trp60Gly) rs4837292 0.99672
NM_001367624.2(ZNF469):c.8627A>G (p.His2876Arg) rs1983014 0.99622
NM_003055.3(SLC18A3):c.1559C>A (p.Ala520Glu) rs8187730 0.99621
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_198569.3(ADGRG6):c.1476G>A (p.Leu492=) rs989946 0.99467
NM_001363118.2(SLC52A2):c.1001+45A>G rs116378047 0.99461
NM_004211.5(SLC6A5):c.485C>G (p.Ala162Gly) rs1443549 0.99417
NM_000392.5(ABCC2):c.116A>T (p.Tyr39Phe) rs927344 0.99331
NM_001291303.3(FAT4):c.11624G>A (p.Ser3875Asn) rs12650153 0.99272
NM_005422.4(TECTA):c.5171G>A (p.Ser1724Asn) rs526433 0.99235
NM_018051.5(DYNC2I1):c.675C>G (p.Asn225Lys) rs2709859 0.99194
NM_024915.4(GRHL2):c.-24C>G rs515622 0.98894
NM_000318.3(PEX2):c.550T>C (p.Cys184Arg) rs10087163 0.98578
NM_000083.3(CLCN1):c.352G>T (p.Gly118Trp) rs10282312 0.98349
NM_000288.4(PEX7):c.340-71G>A rs927181 0.98050
NM_000059.4(BRCA2):c.7397T>C (p.Val2466Ala) rs169547 0.97902
NM_001126108.2(SLC12A3):c.791C>G (p.Ala264Gly) rs1529927 0.97710
NM_001329943.3(KIAA0586):c.2528T>C (p.Leu843Pro) rs1748986 0.97574
NM_004393.6(DAG1):c.41C>G (p.Ser14Trp) rs2131107 0.97526
NM_198428.3(BBS9):c.1329+1606C>T rs6974593 0.97489
NM_000521.4(HEXB):c.185T>C (p.Leu62Ser) rs820878 0.97243
NM_001009944.3(PKD1):c.2216G>A (p.Arg739Gln) rs40433 0.96687
NM_002495.4(NDUFS4):c.198A>C (p.Gly66=) rs31304 0.96579
NM_138694.4(PKHD1):c.5608T>G (p.Leu1870Val) rs2435322 0.95778
NM_005027.4(PIK3R2):c.937T>C (p.Ser313Pro) rs1011320 0.95640
NM_015386.3(COG4):c.485C>T (p.Thr162Ile) rs3931036 0.95397
NM_004006.3(DMD):c.8810G>A (p.Arg2937Gln) rs1800280 0.95243
NM_017739.4(POMGNT1):c.1867A>G (p.Met623Val) rs6659553 0.94881
NM_001128225.3(SLC39A13):c.83A>G (p.Glu28Gly) rs2010519 0.94826
NM_003823.4(TNFRSF6B):c.255A>G (p.Leu85=) rs2738787 0.94528
NM_000327.4(ROM1):c.353G>C (p.Gly118Ala) rs1799959 0.93846
NM_198994.3(TGM6):c.172A>G (p.Met58Val) rs2076405 0.93204
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_001375834.1(WIPF1):c.593C>T (p.Pro198Leu) rs4972450 0.92386
NM_001160372.4(TRAPPC9):c.2799T>C (p.Gly933=) rs2614718 0.91935
NM_054012.4(ASS1):c.597+81A>G rs641510 0.91777
NM_172364.5(CACNA2D4):c.979A>G (p.Ile327Val) rs10735005 0.91686
NM_007317.3(KIF22):c.1425G>A (p.Val475=) rs2450399 0.91348
NM_182916.3(TRNT1):c.68C>T (p.Pro23Leu) rs334773 0.90803
NM_022153.2(VSIR):c.561T>G (p.Asp187Glu) rs3747869 0.90370
NM_002591.4(PCK1):c.550G>C (p.Val184Leu) rs707555 0.89165
NM_022114.4(PRDM16):c.1597T>C (p.Ser533Pro) rs870124 0.89071
NM_019098.5(CNGB3):c.702T>G (p.Cys234Trp) rs6471482 0.88912
NM_182746.3(MCM4):c.1948T>A (p.Leu650Met) rs762679 0.88261
NM_002150.3(HPD):c.97A>G (p.Thr33Ala) rs1154510 0.88222
NM_001366722.1(GRIP1):c.2461C>G (p.Gln821Glu) rs13277 0.87545
NM_005902.4(SMAD3):c.309A>G (p.Leu103=) rs1065080 0.87365
NM_000211.5(ITGB2):c.148-1089A>G rs760462 0.87259
NM_001367624.2(ZNF469):c.4343C>T (p.Pro1448Leu) rs4782300 0.87223
NM_198282.4(STING1):c.695A>G (p.His232Arg) rs1131769 0.87015
NM_001101362.3(KBTBD13):c.798A>G (p.Glu266=) rs2919359 0.86820
NM_000631.5(NCF4):c.758+57T>C rs2075939 0.86715
NM_000535.7(PMS2):c.1621A>G (p.Lys541Glu) rs2228006 0.86482
NM_203285.2(NECTIN1):c.1082T>G (p.Val361Gly) rs7940667 0.86377
NM_207581.4(DUOXA2):c.298C>G (p.Arg100Gly) rs2576090 0.86315
NM_001142864.4(PIEZO1):c.749T>C (p.Val250Ala) rs7184427 0.85861
NM_183357.3(ADCY5):c.1647-17T>C rs9855969 0.85751
NM_173354.5(SIK1):c.1844C>T (p.Ala615Val) rs430554 0.85362
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_001145026.2(PTPRQ):c.1934T>A (p.Val645Asp) rs10778752 0.84044
NM_001173990.3(TMEM216):c.432-11_432-10insA rs11382548 0.83974
NM_000231.3(SGCG):c.860A>G (p.Asn287Ser) rs1800354 0.83747
NM_001009944.3(PKD1):c.1119C>T (p.Leu373=) rs35842 0.83599
NM_000265.7(NCF1):c.153+14T>C rs707410 0.82549
NM_001330078.2(NRXN1):c.4129-30181T>C rs9636391 0.82006
NM_001374353.1(GLI2):c.149-274C>G rs6745937 0.82005
NM_001854.4(COL11A1):c.4603T>C (p.Ser1535Pro) rs1676486 0.81716
NM_001673.5(ASNS):c.629T>A (p.Val210Glu) rs1049674 0.81682
NM_000085.5(CLCNKB):c.641C>G (p.Ala214Gly) rs1889789 0.81589
NM_015272.5(RPGRIP1L):c.1104-82C>T rs4133017 0.80982
NM_000089.4(COL1A2):c.1645C>G (p.Pro549Ala) rs42524 0.80779
NM_022124.6(CDH23):c.4051A>G (p.Asn1351Asp) rs1227065 0.79969
NM_020921.4(NIN):c.3374A>C (p.Gln1125Pro) rs12882191 0.79682
NM_176787.5(PIGN):c.685C>G (p.His229Asp) rs9320001 0.79552
NM_004211.5(SLC6A5):c.371T>C (p.Phe124Ser) rs1443548 0.79432
NM_212482.4(FN1):c.44A>T (p.Gln15Leu) rs1250259 0.79353
NM_000322.5(PRPH2):c.910C>G (p.Gln304Glu) rs390659 0.78498
NM_001137601.3(ZBTB42):c.694G>A (p.Glu232Lys) rs4983387 0.78331
NM_002449.5(MSX2):c.386T>C (p.Met129Thr) rs4242182 0.78320
NM_020921.4(NIN):c.3959G>A (p.Gly1320Glu) rs2073347 0.78250
NM_000091.5(COL4A3):c.422T>C (p.Leu141Pro) rs10178458 0.77314
NM_024678.6(NARS2):c.260A>C (p.Asn87Thr) rs10501429 0.76474
NM_000379.4(XDH):c.3276+12A>G rs1366813 0.75380
NM_001377.3(DYNC2H1):c.8612G>A (p.Arg2871Gln) rs589623 0.75293
NM_001384474.1(LOXHD1):c.3463A>G (p.Arg1155Gly) rs1893566 0.75216
NM_001005373.4(LRSAM1):c.952A>G (p.Asn318Asp) rs1539567 0.75123
NM_014324.6(AMACR):c.829G>A (p.Glu277Lys) rs2278008 0.75062
NM_001378964.1(CDON):c.3662T>A (p.Ile1221Asn) rs684535 0.74435
NM_021957.4(GYS2):c.1087A>G (p.Met363Val) rs2306180 0.74398
NM_014000.3(VCL):c.2814C>G (p.Gly938=) rs2131956 0.74148
NM_001379081.2(FREM1):c.6428A>C (p.Gln2143Pro) rs10961689 0.74114
NM_001276345.2(TNNT2):c.601-32A>C rs1104859 0.73965
NM_000271.5(NPC1):c.1926G>C (p.Met642Ile) rs1788799 0.73957
NM_004553.6(NDUFS6):c.309+208T>C rs4147773 0.73596
NM_207361.6(FREM2):c.6977C>T (p.Thr2326Ile) rs9548509 0.73365
NM_020376.4(PNPLA2):c.1442T>C (p.Leu481Pro) rs1138693 0.73113
NM_022124.6(CDH23):c.4723G>A (p.Ala1575Thr) rs1227051 0.73017
NM_001200.4(BMP2):c.570A>T (p.Arg190Ser) rs235768 0.72782
NM_002185.5(IL7R):c.412G>A (p.Val138Ile) rs1494555 0.72524
NM_000152.5(GAA):c.1327-18A>G rs2278619 0.71811
NM_001363711.2(DUOX2):c.3200C>T (p.Ser1067Leu) rs269868 0.71631
NM_004560.4(ROR2):c.2455G>A (p.Val819Ile) rs10761129 0.71630
NM_004836.7(EIF2AK3):c.497A>G (p.Gln166Arg) rs13045 0.71334
NM_014751.6(MTSS1):c.1036-28C>T rs4870903 0.71134
NM_002047.4(GARS1):c.124C>G (p.Pro42Ala) rs1049402 0.70073
NM_020894.4(UVSSA):c.1859C>T (p.Pro620Leu) rs28522910 0.69466
NM_001365276.2(TNXB):c.7553G>A (p.Gly2518Glu) rs1009382 0.68787
NM_015046.7(SETX):c.3754G>A (p.Gly1252Arg) rs1183768 0.68476
NM_022168.4(IFIH1):c.2528A>G (p.His843Arg) rs3747517 0.68382
NM_002185.5(IL7R):c.197T>C (p.Ile66Thr) rs1494558 0.68368
NM_001378452.1(ITPR1):c.2007G>A (p.Lys669=) rs2306875 0.68068
NM_206933.4(USH2A):c.6317T>C (p.Ile2106Thr) rs6657250 0.67783
NM_002500.5(NEUROD1):c.133A>G (p.Thr45Ala) rs1801262 0.67693
NM_020745.4(AARS2):c.2607G>A (p.Lys869=) rs498512 0.67400
NM_001142800.2(EYS):c.2555T>C (p.Leu852Pro) rs9294631 0.67363
NM_014751.6(MTSS1):c.619-571G>A rs6470252 0.67255
NM_004453.4(ETFDH):c.92C>T (p.Thr31Ile) rs11559290 0.67086
NM_001377.3(DYNC2H1):c.4238A>G (p.Lys1413Arg) rs688906 0.66697
NM_001384474.1(LOXHD1):c.4530+107A>G rs1450425 0.66249
NM_000376.3(VDR):c.2T>C (p.Met1Thr) rs2228570 0.66221
NM_000108.5(DLD):c.439-7T>C rs10263341 0.66181
NM_022893.4(BCL11A):c.386-24278G>A rs11886868 0.65121
NM_000101.4(CYBA):c.214T>C (p.Tyr72His) rs4673 0.64973
NM_001018005.2(TPM1):c.453C>A (p.Ala151=) rs1071646 0.64628
NM_019098.5(CNGB3):c.892A>C (p.Thr298Pro) rs4961206 0.64246
NM_000159.4(GCDH):c.*165A>G rs8012 0.64188
NM_020451.3(SELENON):c.1506C>A (p.Asn502Lys) rs2294228 0.64022
NM_000355.4(TCN2):c.776G>C (p.Arg259Pro) rs1801198 0.63049
NM_002887.4(RARS1):c.7G>A (p.Val3Ile) rs244903 0.62998
NM_000426.4(LAMA2):c.7760C>T (p.Ala2587Val) rs2229848 0.62946
NM_003235.5(TG):c.6056-22G>T rs1554541 0.62843
NM_018723.4(RBFOX1):c.-64+166491C>A rs7187508 0.62707
NM_006005.3(WFS1):c.713-1075C>G rs6446482 0.62564
NM_015386.3(COG4):c.1314+86A>C rs2303791 0.62527
NM_001042413.2(GLIS3):c.1367C>A (p.Pro456Gln) rs6415788 0.62075
NM_000213.5(ITGB4):c.5336T>C (p.Leu1779Pro) rs871443 0.61836
NM_000557.5(GDF5):c.826G>T (p.Ala276Ser) rs224331 0.61510
NM_032043.3(BRIP1):c.2755T>C (p.Ser919Pro) rs4986764 0.61453
NM_001308093.3(GATA4):c.1000+56C>A rs804280 0.61291
NM_207352.4(CYP4V2):c.775C>A (p.Gln259Lys) rs13146272 0.60911
NM_004525.3(LRP2):c.12628A>C (p.Ile4210Leu) rs4667591 0.60691
NM_001615.4(ACTG2):c.354A>G (p.Glu118=) rs756128 0.60595
NM_017433.5(MYO3A):c.3937C>A (p.Arg1313Ser) rs1999240 0.60118
NM_003190.5(TAPBP):c.779C>G (p.Thr260Arg) rs2071888 0.59589
NM_000362.5(TIMP3):c.249T>C (p.His83=) rs9862 0.59578
NM_182961.4(SYNE1):c.11734-5T>G rs9478320 0.59305
NM_004070.4(CLCNKA):c.247A>G (p.Arg83Gly) rs10927887 0.59220
NM_002449.5(MSX2):c.380-164G>A rs4867776 0.58905
NM_003632.3(CNTNAP1):c.151A>C (p.Arg51=) rs2271029 0.58855
NM_000252.3(MTM1):c.1260+3G>A rs222410 0.58566
NM_207346.3(TSEN54):c.1041G>C (p.Lys347Asn) rs9911502 0.58492
NM_206933.4(USH2A):c.10232A>C (p.Glu3411Ala) rs10864198 0.58403
NM_001048166.1(STIL):c.257C>T (p.Ala86Val) rs3125630 0.58260
NM_024996.7(GFM1):c.643G>A (p.Val215Ile) rs2303909 0.58201
NM_018668.5(VPS33B):c.1540G>A (p.Gly514Ser) rs11073964 0.58143
NM_020166.5(MCCC1):c.1391A>C (p.His464Pro) rs2270968 0.58081
NM_052845.4(MMAB):c.716T>A (p.Met239Lys) rs9593 0.57816
NM_001270974.2(HYDIN):c.6917A>G (p.Glu2306Gly) rs2502726 0.57263
NM_001002255.2(SUMO4):c.163G>A (p.Val55Met) rs237025 0.57192
NM_020822.3(KCNT1):c.600+59A>C rs59909130 0.57178
NM_001278064.2(GRM1):c.2977T>C (p.Ser993Pro) rs6923492 0.56892
NM_000382.3(ALDH3A2):c.1446A>T (p.Ala482=) rs7216 0.56713
NM_031935.3(HMCN1):c.8678A>G (p.Glu2893Gly) rs10798035 0.56453
NM_003970.4(MYOM2):c.2606G>A (p.Ser869Asn) rs968381 0.56448
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_015559.3(SETBP1):c.540+7422_540+7423insTCTT rs3085861 0.54222
NM_020812.4(DOCK6):c.749C>T (p.Pro250Leu) rs12978266 0.53878
NM_030653.4(DDX11):c.2572G>A (p.Val858Ile) rs1046457 0.53816
NM_004035.7(ACOX1):c.936C>G (p.Ile312Met) rs1135640 0.53769
NM_152783.5(D2HGDH):c.854-1200C>T rs35386923 0.53647
NM_001303.4(COX10):c.504G>A (p.Leu168=) rs2159132 0.53492
NM_031935.3(HMCN1):c.7253T>C (p.Ile2418Thr) rs12129650 0.53397
NM_001793.6(CDH3):c.2239C>A (p.Arg747=) rs17715450 0.53279
NM_021828.5(HPSE2):c.1736A>T (p.Tyr579Phe) rs10883100 0.53113
NM_030653.4(DDX11):c.1699C>G (p.Gln567Glu) rs2075322 0.52892
NM_001985.3(ETFB):c.461C>T (p.Thr154Met) rs1130426 0.52772
NM_198525.3(KIF7):c.2873G>T (p.Ser958Ile) rs3803530 0.52464
NM_002470.4(MYH3):c.349-76T>C rs71360285 0.52372
NM_182961.4(SYNE1):c.3104T>C (p.Val1035Ala) rs214976 0.52364
NM_178161.3(PTF1A):c.787T>C (p.Ser263Pro) rs7918487 0.51842
NM_017433.5(MYO3A):c.2867G>A (p.Ser956Asn) rs3758449 0.51636
NM_005228.5(EGFR):c.2361G>A (p.Gln787=) rs1050171 0.51617
NM_000146.4(FTL):c.163T>C (p.Leu55=) rs2230267 0.51379
NM_020822.3(KCNT1):c.600+60G>A rs56375931 0.51258
NM_000104.4(CYP1B1):c.1294C>G (p.Leu432Val) rs1056836 0.51254
NM_001377142.1(PLCB4):c.61G>A (p.Ala21Thr) rs6077510 0.50724
NM_020442.6(VARS2):c.1345T>C (p.Trp449Arg) rs2249464 0.50569
NM_004208.4(AIFM1):c.273T>C (p.Asp91=) rs1139851 0.50355
NM_130837.3(OPA1):c.473G>A (p.Ser158Asn) rs7624750 0.50224
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_000153.4(GALC):c.1685T>C (p.Ile562Thr) rs398607 0.49946
NM_007348.4(ATF6):c.1434-3T>A rs2257107 0.48568
NM_153676.4(USH1C):c.2457G>C (p.Glu819Asp) rs1064074 0.48497
NM_025137.4(SPG11):c.1388T>C (p.Phe463Ser) rs3759871 0.48431
NM_000487.6(ARSA):c.1178C>G (p.Thr393Ser) rs743616 0.48362
NM_001946.4(DUSP6):c.340G>T (p.Val114Leu) rs2279574 0.48185
NM_005677.4(COLQ):c.718-1383G>C rs878945 0.47746
NM_000493.4(COL10A1):c.80T>C (p.Met27Thr) rs1064583 0.47609
NM_173500.4(TTBK2):c.23T>C (p.Leu8Pro) rs6493068 0.47359
NM_199242.3(UNC13D):c.2599A>G (p.Lys867Glu) rs1135688 0.47045
NM_001206744.2(TPO):c.2173A>C (p.Thr725Pro) rs732609 0.46998
NM_001851.6(COL9A1):c.1015T>C (p.Ser339Pro) rs592121 0.46927
NM_000092.5(COL4A4):c.3979G>A (p.Val1327Met) rs2229813 0.46716
NM_020964.3(EPG5):c.3173T>C (p.Val1058Ala) rs3744998 0.46686
NM_001101362.3(KBTBD13):c.242C>T (p.Ala81Val) rs2919358 0.46622
NM_207352.4(CYP4V2):c.64C>G (p.Leu22Val) rs1055138 0.46276
NM_001849.4(COL6A2):c.2039G>A (p.Arg680His) rs1042917 0.45419
NM_007374.3(SIX6):c.421C>A (p.His141Asn) rs33912345 0.45414
NM_014049.5(ACAD9):c.379A>C (p.Arg127=) rs1680778 0.45398
NM_001370298.3(FGD4):c.42C>G (p.Ile14Met) rs2651369 0.45332
NM_001482.3(GATM):c.330A>T (p.Gln110His) rs1288775 0.45330
NM_003070.5(SMARCA2):c.4253+40G>C rs3793511 0.45181
NM_005215.4(DCC):c.601C>G (p.Arg201Gly) rs2229080 0.45169
NM_032119.4(ADGRV1):c.17626G>A (p.Val5876Ile) rs2247870 0.45079
NM_001202.6(BMP4):c.455T>C (p.Val152Ala) rs17563 0.44424
NM_001031710.3(KLHL7):c.352C>T (p.Leu118=) rs15775 0.44258
NM_015311.3(OBSL1):c.5300G>A (p.Arg1767Gln) rs59332477 0.43789
NM_133459.4(CCBE1):c.266-104C>T rs650033 0.43621
NM_207361.6(FREM2):c.3209T>C (p.Phe1070Ser) rs2496425 0.43515
NM_007347.5(AP4E1):c.487T>C (p.Cys163Arg) rs2306331 0.43394
NM_001025295.3(IFITM5):c.80G>C (p.Gly27Ala) rs57285449 0.43349
NM_006005.3(WFS1):c.1832G>A (p.Arg611His) rs734312 0.43085
NM_001844.5(COL2A1):c.2194-55T>C rs3829737 0.43071
NM_002451.4(MTAP):c.166G>A (p.Val56Ile) rs7023954 0.42302
NM_001253852.3(AP4B1):c.1439T>C (p.Leu480Ser) rs1217401 0.42071
NM_000375.3(UROS):c.-219C>A rs4385801 0.41780
NM_001211.6(BUB1B):c.2679-97A>G rs2290551 0.41699
NM_000414.4(HSD17B4):c.1675A>G (p.Ile559Val) rs11205 0.41131
NM_004608.4(TBX6):c.-49+34G>T rs3809627 0.40816
NM_000186.4(CFH):c.184G>A (p.Val62Ile) rs800292 0.40446
NM_172095.4(CATSPER2):c.1179-2A>T rs7169097 0.39868
NM_172095.4(CATSPER2):c.1179-3A>C rs199882327 0.39865
NM_031935.3(HMCN1):c.13310A>G (p.Gln4437Arg) rs10911825 0.39391
NM_006204.4(PDE6C):c.808T>A (p.Ser270Thr) rs701865 0.39072
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_144508.5(KNL1):c.2583T>G (p.Thr861=) rs8041534 0.38951
NM_014324.6(AMACR):c.524G>A (p.Gly175Asp) rs10941112 0.38660
NM_000512.5(GALNS):c.120+1532G>C rs34150867 0.38226
NM_001080508.3(TBX18):c.142G>A (p.Gly48Arg) rs172562 0.38125
NM_001378454.1(ALMS1):c.6854G>C (p.Arg2285Pro) rs6546839 0.38002
NM_005076.5(CNTN2):c.1097C>T (p.Pro366Leu) rs2229866 0.36917
NM_003322.6(TULP1):c.776T>C (p.Ile259Thr) rs2064317 0.36637
NM_022153.2(VSIR):c.20T>C (p.Leu7Pro) rs3747862 0.36326
NM_001122769.3(LCA5):c.1967G>A (p.Gly656Asp) rs1875845 0.36167
NM_030665.4(RAI1):c.840del (p.Gln280fs) rs34083643 0.35741
NM_194248.3(OTOF):c.244C>T (p.Arg82Cys) rs13031859 0.35740
NM_000545.8(HNF1A):c.79A>C (p.Ile27Leu) rs1169288 0.35489
NM_024334.3(TMEM43):c.536T>C (p.Met179Thr) rs2340917 0.35127
NM_153700.2(STRC):c.179T>C (p.Phe60Ser) rs2729509 0.34286
NM_015443.4(KANSL1):c.3029C>T (p.Pro1010Leu) rs7220988 0.34127
NM_014845.6(FIG4):c.1961T>C (p.Val654Ala) rs9885672 0.33924
NM_001243133.2(NLRP3):c.277+83_277+85del rs368835809 0.33560
NM_000311.5(PRNP):c.385A>G (p.Met129Val) rs1799990 0.33516
NM_000159.4(GCDH):c.*288G>T rs9384 0.33464
NM_022167.4(XYLT2):c.2402C>G (p.Thr801Arg) rs6504649 0.33080
NM_144670.6(A2ML1):c.3364C>T (p.Arg1122Trp) rs1860967 0.33038
NM_177924.5(ASAH1):c.382+84C>A rs115973081 0.32897
NM_004287.5(GOSR2):c.200G>A (p.Arg67Lys) rs197922 0.32616
NM_181741.4(ORC4):c.233A>G (p.Asn78Ser) rs2307394 0.32301
NM_181503.3(EXOSC8):c.321G>A (p.Gln107=) rs1127446 0.32239
NM_001143992.2(WRAP53):c.202C>G (p.Arg68Gly) rs2287499 0.32078
NM_002693.3(POLG):c.3105-36A>G rs2246900 0.31986
NM_014270.5(SLC7A9):c.667C>A (p.Leu223Met) rs1007160 0.31956
NM_020779.4(WDR35):c.2915A>G (p.Glu972Gly) rs1191778 0.31383
NM_000535.7(PMS2):c.2570G>C (p.Gly857Ala) rs1802683 0.30966
NM_000159.4(GCDH):c.852+223C>T rs11085825 0.30906
NM_014112.5(TRPS1):c.-9dup rs35329862 0.30691
NM_005050.4(ABCD4):c.184T>C (p.Leu62=) rs2301345 0.29779
NM_001377.3(DYNC2H1):c.11039C>T (p.Ala3680Val) rs10895391 0.29753
NM_004407.4(DMP1):c.205A>T (p.Ser69Cys) rs10019009 0.29735
NM_000158.4(GBE1):c.568A>G (p.Arg190Gly) rs2229519 0.29724
NM_203486.3(DLL3):c.515T>G (p.Phe172Cys) rs8107127 0.29570
NM_018475.5(TMEM165):c.*2_*3del rs35154686 0.29449
NM_020436.5(SALL4):c.1520T>G (p.Leu507Arg) rs6126344 0.29053
NM_024740.2(ALG9):c.865G>A (p.Val289Ile) rs10502151 0.28588
NM_024666.5(AAGAB):c.394A>C (p.Ile132Leu) rs7173826 0.28536
NM_022124.6(CDH23):c.6130G>A (p.Glu2044Lys) rs10466026 0.28442
NM_001174147.2(LMX1B):c.326+7G>C rs1336980 0.28269
NM_014679.5(CEP57):c.1342A>G (p.Arg448Gly) rs644799 0.28044
NM_178857.6(RP1L1):c.4019A>G (p.Glu1340Gly) rs9657518 0.28032
NM_000110.4(DPYD):c.85T>C (p.Cys29Arg) rs1801265 0.27966
NM_020442.6(VARS2):c.2038G>T (p.Val680Leu) rs2074506 0.27888
NM_022124.6(CDH23):c.7139C>T (p.Pro2380Leu) rs4747195 0.27841
NM_199355.4(ADAMTS18):c.571T>C (p.Tyr191His) rs11643211 0.27809
NM_016156.6(MTMR2):c.8A>C (p.Lys3Thr) rs3824874 0.27654
NM_000140.5(FECH):c.68-23C>T rs2269219 0.27629
NM_018127.7(ELAC2):c.650C>T (p.Ser217Leu) rs4792311 0.27559
NM_144991.3(TSPEAR):c.303+9076A>G rs452472 0.27108
NM_001128228.3(TPRN):c.559G>T (p.Ala187Ser) rs9411313 0.27092
NM_001290043.2(TAP2):c.2059T>C (p.Ter687Gln) rs241448 0.26784
NM_001134793.2(HYLS1):c.91T>C (p.Cys31Arg) rs667782 0.26652
NM_000400.4(ERCC2):c.934G>A (p.Asp312Asn) rs1799793 0.26310
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_001164508.2(NEB):c.10809G>C (p.Trp3603Cys) rs10172023 0.26237
NM_139285.4(GAS2L2):c.1961C>T (p.Ala654Val) rs3744374 0.25886
NM_005957.5(MTHFR):c.1286A>C (p.Glu429Ala) rs1801131 0.25830
NM_001290043.2(TAP2):c.1993A>G (p.Thr665Ala) rs241447 0.25756
NM_001023570.4(IQCB1):c.1301G>A (p.Cys434Tyr) rs17849995 0.25469
NM_001853.4(COL9A3):c.1304C>A (p.Ala435Glu) rs751557 0.25404
NM_020702.5(MYORG):c.69C>G (p.Tyr23Ter) rs4879782 0.25379
NM_001079802.2(FKTN):c.608G>A (p.Arg203Gln) rs34787999 0.25357
NM_001003841.3(SLC6A19):c.1017-4G>A rs35329108 0.25295
NM_001365276.2(TNXB):c.12170A>T (p.Asn4057Ile) rs17421133 0.25264
NM_004168.4(SDHA):c.1908+90A>G rs6888536 0.25155
NM_004044.7(ATIC):c.347C>G (p.Thr116Ser) rs2372536 0.24863
NM_000335.5(SCN5A):c.1673A>G (p.His558Arg) rs1805124 0.24768
NM_014694.4(ADAMTSL2):c.1090G>A (p.Val364Ile) rs35767802 0.24762
NM_000747.3(CHRNB1):c.95A>G (p.Glu32Gly) rs17856697 0.24673
NM_000372.5(TYR):c.575C>A (p.Ser192Tyr) rs1042602 0.24593
NM_000052.7(ATP7A):c.2299G>C (p.Val767Leu) rs2227291 0.24533
NM_014625.4(NPHS2):c.-51G>T rs12406197 0.23878
NM_000127.3(EXT1):c.1065C>T (p.Cys355=) rs11546829 0.23625
NM_000070.3(CAPN3):c.706G>A (p.Ala236Thr) rs1801449 0.23274
NM_004285.4(H6PD):c.745+88T>A rs12032814 0.23253
NM_000340.2(SLC2A2):c.329C>T (p.Thr110Ile) rs5400 0.23124
NM_000059.4(BRCA2):c.1114A>C (p.Asn372His) rs144848 0.23116
NM_001171.6(ABCC6):c.3803G>A (p.Arg1268Gln) rs2238472 0.22903
NM_177438.3(DICER1):c.1907+105C>T rs2275182 0.22841
NM_001384140.1(PCDH15):c.1138G>A (p.Gly380Ser) rs10825269 0.22813
NM_020442.6(VARS2):c.2750G>A (p.Arg917Gln) rs9394021 0.22711
NM_001142864.4(PIEZO1):c.4193C>T (p.Pro1398Leu) rs11645197 0.22515
NM_001254.4(CDC6):c.1321G>A (p.Val441Ile) rs13706 0.22496
NM_000553.6(WRN):c.4099T>C (p.Cys1367Arg) rs1346044 0.22492
NM_001382430.1(AKT1):c.726G>A (p.Glu242=) rs1130233 0.22241
NM_004836.7(EIF2AK3):c.407C>G (p.Ser136Cys) rs867529 0.22211
NM_005559.4(LAMA1):c.4729T>G (p.Ser1577Ala) rs12961939 0.21927
NM_003640.5(ELP1):c.3214T>A (p.Cys1072Ser) rs3204145 0.21876
NM_020366.4(RPGRIP1):c.1639G>T (p.Ala547Ser) rs10151259 0.21790
NM_004168.4(SDHA):c.1908+85G>A rs6864807 0.21789
NM_001291303.3(FAT4):c.10577G>A (p.Gly3526Asp) rs1567047 0.21721
NM_007348.4(ATF6):c.199A>G (p.Met67Val) rs1058405 0.21366
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_173660.5(DOK7):c.1382G>A (p.Gly461Asp) rs9684786 0.20663
NM_030957.4(ADAMTS10):c.401G>C (p.Ser134Thr) rs7255721 0.20500
NM_005559.4(LAMA1):c.2021A>C (p.Asn674Thr) rs566655 0.20323
NM_025000.4(DCAF17):c.322-14C>T rs192861143 0.20151
NM_000180.4(GUCY2D):c.2345T>A (p.Leu782His) rs8069344 0.20071
NM_022124.6(CDH23):c.1469G>C (p.Gly490Ala) rs1227049 0.20047
NM_001384140.1(PCDH15):c.5156A>C (p.Gln1719Pro) rs17704703 0.20017
NM_001018115.3(FANCD2):c.1122A>G (p.Val374=) rs34046352 0.19892
NM_014336.5(AIPL1):c.268G>C (p.Asp90His) rs12449580 0.19586
NM_015404.4(WHRN):c.1318G>A (p.Ala440Thr) rs4978584 0.19569
NM_001018115.3(FANCD2):c.2141C>T (p.Pro714Leu) rs3864017 0.19295
NM_207346.3(TSEN54):c.114T>G (p.His38Gln) rs8079373 0.19277
NM_015404.4(WHRN):c.2388C>A (p.Asn796Lys) rs2274158 0.19185
NM_206933.4(USH2A):c.11504C>T (p.Thr3835Ile) rs11120616 0.19146
NM_170707.4(LMNA):c.357-739T>G rs513043 0.18886
NM_000179.3(MSH6):c.116G>A (p.Gly39Glu) rs1042821 0.18742
NM_170784.3(MKKS):c.986-29A>T rs764266 0.18492
NM_004168.4(SDHA):c.1969G>A (p.Val657Ile) rs6962 0.18133
NM_178857.6(RP1L1):c.665A>C (p.His222Pro) rs4388421 0.17875
NM_005866.4(SIGMAR1):c.5A>C (p.Gln2Pro) rs1800866 0.17661
NM_014215.3(INSRR):c.2783C>T (p.Pro928Leu) rs56252149 0.17587
NM_005708.5(GPC6):c.1234G>A (p.Val412Met) rs1535692 0.17412
NM_003896.4(ST3GAL5):c.311A>G (p.His104Arg) rs1138484 0.17151
NM_001999.4(FBN2):c.952+4177C>T rs13180243 0.16937
NM_000493.4(COL10A1):c.1633G>C (p.Gly545Arg) rs2228547 0.16401
NM_203288.2(RP9):c.629A>G (p.Lys210Arg) rs150987618 0.16255
NM_001384140.1(PCDH15):c.1304A>C (p.Asp435Ala) rs4935502 0.15952
NM_014236.4(GNPAT):c.1556A>G (p.Asp519Gly) rs11558492 0.15938
NM_000098.3(CPT2):c.1939A>G (p.Met647Val) rs1799822 0.15237
NM_001393392.1(AKR1C2):c.441A>G (p.Thr147=) rs3207909 0.15144
NM_006214.4(PHYH):c.85C>T (p.Pro29Ser) rs28938169 0.15001
NM_004994.3(MMP9):c.649+3G>T rs2274755 0.14987
NM_032119.4(ADGRV1):c.9743G>A (p.Gly3248Asp) rs16869032 0.14695
NM_001377265.1(MAPT):c.1564T>C (p.Ser522Pro) rs10445337 0.14666
NM_002843.4(PTPRJ):c.827A>C (p.Gln276Pro) rs1566734 0.14574
NM_014208.3(DSPP):c.202A>T (p.Arg68Trp) rs36094464 0.14530
NM_001377265.1(MAPT):c.1333C>T (p.Arg445Trp) rs17651549 0.14348
NM_001142864.4(PIEZO1):c.2992-23A>G rs76070043 0.14300
NM_139285.4(GAS2L2):c.491C>T (p.Ala164Val) rs11654604 0.14243
NM_002448.3(MSX1):c.119C>G (p.Ala40Gly) rs36059701 0.14189
NM_022124.6(CDH23):c.5411G>A (p.Arg1804Gln) rs3802711 0.14136
NM_201548.5(CERKL):c.895+3A>G rs12623687 0.13988
NM_001365304.2(LOC112694756):c.*1508+17G>T rs2071390 0.13976
NM_001098484.3(SLC4A4):c.1904-74_1904-73insGGTT rs773069537 0.12949
NM_005148.4(UNC119):c.*1C>T rs2070139 0.12907
NM_001853.4(COL9A3):c.50G>A (p.Gly17Glu) rs2294984 0.12823
NM_005548.3(KARS1):c.1784C>G (p.Thr595Ser) rs6834 0.12646
NM_004281.4(BAG3):c.1220C>T (p.Pro407Leu) rs3858340 0.12393
NM_001369268.1(ACAN):c.824G>A (p.Arg275Gln) rs34949187 0.11995
NM_001378183.1(PIEZO2):c.6488C>A (p.Ala2163Asp) rs113682091 0.11487
NM_001379500.1(COL18A1):c.2683+702G>A rs114832456 0.11163
NM_000051.4(ATM):c.5557G>A (p.Asp1853Asn) rs1801516 0.10783
NM_002335.4(LRP5):c.3989C>T (p.Ala1330Val) rs3736228 0.10701
NM_012210.4(TRIM32):c.1254G>A (p.Val418=) rs1661300 0.10569
NM_001077418.3(TMEM231):c.16C>G (p.Leu6Val) rs3743601 0.10494
NM_000251.2(MSH2):c.-118T>C rs2303425 0.10354
NM_004183.4(BEST1):c.219C>A (p.Ile73=) rs1109748 0.10271
NM_020921.4(NIN):c.5800C>G (p.Gln1934Glu) rs2295847 0.10087
NM_000492.4(CFTR):c.1210-13G>T rs10229820 0.09791
NM_001033855.3(DCLRE1C):c.512C>G (p.Pro171Arg) rs35441642 0.09351
NM_015404.4(WHRN):c.1684C>G (p.Pro562Ala) rs12339210 0.09351
NM_020632.3(ATP6V0A4):c.1739T>C (p.Met580Thr) rs3807153 0.09195
NM_000251.3(MSH2):c.1511-9A>T rs12998837 0.09123
NM_000388.4(CASR):c.2968A>G (p.Arg990Gly) rs1042636 0.08688
NM_000498.3(CYP11B2):c.1157T>C (p.Val386Ala) rs61757294 0.08654
NM_006063.3(KLHL41):c.811G>A (p.Ala271Thr) rs28763868 0.08132
NM_000602.5(SERPINE1):c.43G>A (p.Ala15Thr) rs6092 0.07905
NM_001379500.1(COL18A1):c.2117C>G (p.Pro706Arg) rs79980197 0.07777
NM_001378615.1(CC2D2A):c.156C>T (p.Ser52=) rs1861050 0.07770
NM_001395413.1(POR):c.6A>G (p.Gly2=) rs10262966 0.07713
NM_001605.3(AARS1):c.671+3A>G rs74024185 0.07668
NM_001605.3(AARS1):c.824G>A (p.Gly275Asp) rs11537667 0.07667
NM_139285.4(GAS2L2):c.1618G>A (p.Ala540Thr) rs12602590 0.07564
NM_020461.4(TUBGCP6):c.5287C>T (p.Arg1763Trp) rs35381394 0.07476
NM_000287.4(PEX6):c.2426C>T (p.Ala809Val) rs35830695 0.07353
NM_024675.4(PALB2):c.3113+1376C>G rs369444 0.07316
NM_005259.3(MSTN):c.458A>G (p.Lys153Arg) rs1805086 0.07270
NM_153717.3(EVC):c.1328G>A (p.Arg443Gln) rs35953626 0.07232
NM_000355.4(TCN2):c.643C>T (p.Arg215Trp) rs35838082 0.07162
NM_000155.4(GALT):c.940A>G (p.Asn314Asp) rs2070074 0.07150
NM_207346.3(TSEN54):c.3_8dup (p.2_3EP[4]) rs398124622 0.06994
NM_001386393.1(PANK2):c.2T>A rs71647828 0.06976
NM_020208.4(SLC6A20):c.596C>T (p.Thr199Met) rs17279437 0.06722
NM_003661.4(APOL1):c.1152T>G (p.Ile384Met) rs60910145 0.06710
NM_194277.3(FRMD7):c.842C>T (p.Ser281Leu) rs5977625 0.06625
NM_022437.3(ABCG8):c.55G>C (p.Asp19His) rs11887534 0.06566
NM_152564.5(VPS13B):c.9331-2A>T rs74485751 0.06492
NM_007144.3(PCGF2):c.210-8T>C rs72819704 0.06015
NM_000031.6(ALAD):c.177G>C (p.Lys59Asn) rs1800435 0.05916
NM_014915.3(ANKRD26):c.-140C>G rs41299222 0.05835
NM_004369.4(COL6A3):c.3262A>C (p.Lys1088Gln) rs11896521 0.05751
NM_005491.5(MAMLD1):c.1514T>C (p.Val505Ala) rs61740566 0.05698
NM_020779.4(WDR35):c.2599G>A (p.Ala867Thr) rs2293669 0.05563
NM_025114.4(CEP290):c.2512A>G (p.Lys838Glu) rs11104738 0.05247
NM_000325.6(PITX2):c.*454C>T rs6533526 0.05143
NM_000487.6(ARSA):c.*96A>G rs6151429 0.05120
NM_014714.4(IFT140):c.3209C>T (p.Ala1070Val) rs2235638 0.05119
NM_014855.3(AP5Z1):c.1124T>A (p.Leu375Gln) rs11772411 0.05021
NM_000342.4(SLC4A1):c.166A>G (p.Lys56Glu) rs5036 0.05002
NM_197947.3(CLEC7A):c.714T>G (p.Tyr238Ter) rs16910526 0.04986
NM_006343.3(MERTK):c.844G>A (p.Ala282Thr) rs7588635 0.04692
NM_024864.5(MRM1):c.359G>C (p.Cys120Ser) rs78943308 0.04685
NM_002661.5(PLCG2):c.802C>T (p.Arg268Trp) rs1143687 0.04677
NM_001142446.2(ANK1):c.127-39509T>C rs77173848 0.04675
NM_003690.5(PRKRA):c.1A>C (p.Met1Leu) rs9406386 0.04659
NM_000155.4(GALT):c.378-27G>C rs41274865 0.04615
NM_000155.4(GALT):c.508-24G>A rs41274867 0.04612
NM_012082.4(ZFPM2):c.1969A>G (p.Ser657Gly) rs28374544 0.04474
NM_001195129.2(PRSS56):c.1795C>G (p.Pro599Ala) rs61744404 0.04318
NM_000052.7(ATP7A):c.-21-2239C>T rs62621209 0.04187
NM_000022.2(ADA):c.22G>A (p.Asp8Asn) rs73598374 0.04175
NM_022124.6(CDH23):c.9373T>C (p.Phe3125Leu) rs45583140 0.04021
NM_001349232.2(ATG7):c.1412T>C (p.Val471Ala) rs36117895 0.03931
NM_139285.4(GAS2L2):c.2485C>T (p.Arg829Trp) rs56386706 0.03918
NM_002283.4(KRT85):c.233G>A (p.Arg78His) rs61630004 0.03613
NM_003872.3(NRP2):c.368A>G (p.Lys123Arg) rs849541 0.03492
NM_001126108.2(SLC12A3):c.2755C>T (p.Arg919Cys) rs12708965 0.03475
NM_001308.3(CPN1):c.533G>A (p.Gly178Asp) rs61751507 0.03433
NM_003126.4(SPTA1):c.2909C>A (p.Ala970Asp) rs35948326 0.03419
NM_001061.7(TBXAS1):c.1066C>G (p.Leu356Val) rs4529 0.03380
NM_001710.6(CFB):c.26T>A (p.Leu9His) rs4151667 0.03314
NM_000063.6(C2):c.954G>C (p.Glu318Asp) rs9332739 0.03307
NM_000017.4(ACADS):c.511C>T (p.Arg171Trp) rs1800556 0.03280
NM_000093.5(COL5A1):c.1588G>A (p.Gly530Ser) rs61735045 0.03116
NM_018127.7(ELAC2):c.1621G>A (p.Ala541Thr) rs5030739 0.02886
NM_000531.6(OTC):c.809A>G (p.Gln270Arg) rs1800328 0.02868
NM_000067.3(CA2):c.754A>G (p.Asn252Asp) rs2228063 0.02817
NM_000036.3(AMPD1):c.860A>T (p.Lys287Ile) rs34526199 0.02732
NM_001385875.1(ZFYVE27):c.572G>T (p.Gly191Val) rs35077384 0.02717
NM_001083116.3(PRF1):c.11G>A (p.Arg4His) rs35418374 0.02616
NM_000618.5(IGF1):c.*263T>A rs70961704 0.02615
NM_000053.4(ATP7B):c.3045G>A (p.Leu1015=) rs1801248 0.02598
NM_052867.4(NALCN):c.2637-10T>G rs16958350 0.02553
NM_005555.4(KRT6B):c.1495G>A (p.Gly499Ser) rs61746355 0.02504
NM_000051.4(ATM):c.6573-36C>T rs759869598 0.02433
NM_001080413.3(NOBOX):c.349C>T (p.Arg117Trp) rs7800847 0.02403
NM_173076.3(ABCA12):c.7093G>A (p.Asp2365Asn) rs726070 0.02339
NM_001211.6(BUB1B):c.119C>T (p.Thr40Met) rs56079734 0.02335
NM_000137.4(FAH):c.1021C>T (p.Arg341Trp) rs11555096 0.02131
NM_000186.4(CFH):c.3176T>C (p.Ile1059Thr) rs35343172 0.02118
NM_000243.3(MEFV):c.442G>C (p.Glu148Gln) rs3743930 0.02112
NM_001040108.2(MLH3):c.2221G>T (p.Val741Phe) rs28756990 0.02049
NM_000249.4(MLH1):c.1039-35A>T rs867680022 0.02046
NM_001031710.3(KLHL7):c.121-5814A>G rs17147682 0.02041
NM_001134831.2(AHI1):c.2488C>T (p.Arg830Trp) rs13312995 0.02035
NM_000237.3(LPL):c.106G>A (p.Asp36Asn) rs1801177 0.01951
NM_001393392.1(AKR1C2):c.666T>C (p.His222=) rs13222 0.01890
NM_000051.4(ATM):c.1541G>A (p.Gly514Asp) rs2235000 0.01889
NM_000453.3(SLC5A5):c.-54C>T rs112077649 0.01822
NM_000500.9(CYP21A2):c.*13G>A rs6447 0.01770
NM_014694.4(ADAMTSL2):c.1261G>A (p.Gly421Ser) rs752071055 0.01748
NM_000116.5(TAFAZZIN):c.383T>C (p.Phe128Ser) rs146934311 0.01744
NM_024675.4(PALB2):c.2993G>A (p.Gly998Glu) rs45551636 0.01717
NM_001171.6(ABCC6):c.3190C>T (p.Arg1064Trp) rs41278174 0.01708
NM_000176.3(NR3C1):c.66G>A (p.Glu22=) rs6189 0.01685
NM_001174096.2(ZEB1):c.233A>C (p.Asn78Thr) rs80194531 0.01629
NM_139027.6(ADAMTS13):c.1368G>T (p.Gln456His) rs36220239 0.01611
NM_000552.5(VWF):c.5049A>C (p.Ala1683=) rs79275181 0.01607
NM_015102.5(NPHP4):c.2542C>T (p.Arg848Trp) rs17472401 0.01606
NM_000275.3(OCA2):c.1113C>T (p.Gly371=) rs1800405 0.01593
NM_000070.3(CAPN3):c.479C>G (p.Ala160Gly) rs17592 0.01574
NM_020366.4(RPGRIP1):c.1793G>A (p.Arg598Gln) rs74034910 0.01504
NM_000136.3(FANCC):c.416G>A (p.Gly139Glu) rs1800362 0.01494
NM_006790.3(MYOT):c.220C>A (p.Gln74Lys) rs6890689 0.01460
NM_003105.6(SORL1):c.808G>A (p.Glu270Lys) rs117260922 0.01456
NM_000051.4(ATM):c.3161C>G (p.Pro1054Arg) rs1800057 0.01452
NM_001021.6(RPS17):c.327+80G>A rs990557809 0.01433
NM_012186.3(FOXE3):c.146G>C (p.Gly49Ala) rs566961335 0.01396
NM_007294.4(BRCA1):c.4956G>A (p.Met1652Ile) rs1799967 0.01348
NM_006950.3(SYN1):c.152C>G (p.Ala51Gly) rs187134574 0.01317
NM_018392.5(ZGRF1):c.4087G>A (p.Glu1363Lys) rs76187047 0.01292
NM_000077.5(CDKN2A):c.-25C>T rs144481587 0.01273
NM_001039.4(SCNN1G):c.547G>A (p.Gly183Ser) rs5736 0.01206
NM_001065.4(TNFRSF1A):c.362G>A (p.Arg121Gln) rs4149584 0.01206
NM_000335.5(SCN5A):c.1571C>A (p.Ser524Tyr) rs41313691 0.01184
NM_000342.3(SLC4A1):c.118G>A (p.Glu40Lys) rs45562031 0.01150
NM_000044.6(AR):c.1886-60G>A rs146283342 0.01144
NM_000550.3(TYRP1):c.1557T>G (p.Tyr519Ter) rs41302073 0.01144
NM_000458.4(HNF1B):c.-35A>C rs1261496299 0.01134
NM_007294.4(BRCA1):c.3119G>A (p.Ser1040Asn) rs4986852 0.01109
NM_001127649.3(PEX26):c.457C>G (p.Leu153Val) rs12484657 0.01096
NM_178452.6(DNAAF1):c.1769C>T (p.Thr590Met) rs34777958 0.01090
NM_001063.4(TF):c.1623-63del rs8177291 0.01085
NM_017882.3(CLN6):c.34G>A (p.Ala12Thr) rs112239768 0.01081
NM_001142800.2(EYS):c.5044G>T (p.Asp1682Tyr) rs75831552 0.01062
NM_000138.5(FBN1):c.3294C>T (p.Asp1098=) rs140587 0.01051
NM_172166.4(MSH5):c.1051C>G (p.Arg351Gly) rs28399976 0.01049
NM_153240.5(NPHP3):c.154G>A (p.Ala52Thr) rs145643112 0.01037
NM_001379610.1(SPINK1):c.200G>A (p.Arg67His) rs35523678 0.01028
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_001846.4(COL4A2):c.3368A>G (p.Glu1123Gly) rs117412802 0.01005
NM_032737.4(LMNB2):c.704G>A (p.Arg235Gln) rs121912497 0.01005
NM_000500.9(CYP21A2):c.188A>T (p.His63Leu) rs9378252 0.00995
NM_001360.3(DHCR7):c.99-4G>A rs140748737 0.00988
NM_000479.5(AMH):c.974A>G (p.Gln325Arg) rs140765565 0.00966
NM_001033855.3(DCLRE1C):c.457G>A (p.Gly153Arg) rs41297018 0.00964
NM_005138.3(SCO2):c.776C>T (p.Ala259Val) rs8139305 0.00949
NM_007254.4(PNKP):c.58C>T (p.Pro20Ser) rs3739168 0.00946
NM_001972.4(ELANE):c.655G>A (p.Val219Ile) rs17216656 0.00945
NM_201384.3(PLEC):c.887G>A (p.Arg296Gln) rs138924815 0.00931
NM_022042.4(SLC26A1):c.*878G>A rs147498923 0.00924
NM_213599.3(ANO5):c.616A>G (p.Thr206Ala) rs78266558 0.00922
NM_000018.4(ACADVL):c.1600G>A (p.Glu534Lys) rs2230180 0.00920
NM_000426.4(LAMA2):c.7431A>T (p.Arg2477Ser) rs34367843 0.00914
NM_000245.4(MET):c.2975C>T (p.Thr992Ile) rs56391007 0.00911
NM_000391.4(TPP1):c.299A>G (p.Gln100Arg) rs1800746 0.00889
NM_004369.4(COL6A3):c.6156+4C>T rs111228504 0.00884
NM_206997.1(GPR152):c.181G>A (p.Gly61Arg) rs79423227 0.00871
NM_001846.4(COL4A2):c.3448C>A (p.Gln1150Lys) rs62621875 0.00869
NM_004183.4(BEST1):c.1474G>A (p.Val492Ile) rs111326315 0.00867
NM_006949.4(STXBP2):c.1298C>T (p.Ala433Val) rs141309384 0.00866
NM_003482.4(KMT2D):c.10192A>G (p.Met3398Val) rs75937132 0.00847
NM_001162498.3(LPAR6):c.921G>T (p.Trp307Cys) rs17071686 0.00841
NM_001243133.2(NLRP3):c.592G>A (p.Val198Met) rs121908147 0.00835
NM_004369.4(COL6A3):c.5261A>G (p.Lys1754Arg) rs77632596 0.00808
NM_000327.4(ROM1):c.868del (p.Gln290fs) rs548233813 0.00807
NM_004628.5(XPC):c.1001C>A (p.Pro334His) rs74737358 0.00806
NM_213599.3(ANO5):c.2387C>T (p.Ser796Leu) rs61910685 0.00804
NM_002900.3(RBP3):c.1037G>A (p.Arg346His) rs111245635 0.00786
NM_203288.2(RP9):c.664del (p.Ter222AspextTer?) rs553265417 0.00773
NM_006346.4(PIBF1):c.1214G>A (p.Arg405Gln) rs17089782 0.00771
NM_206933.4(USH2A):c.6240G>T (p.Lys2080Asn) rs114402911 0.00770
NM_002485.5(NBN):c.37+5G>A rs116735828 0.00767
NM_000051.4(ATM):c.544G>C (p.Val182Leu) rs3218707 0.00757
NM_000435.3(NOTCH3):c.1490C>T (p.Ser497Leu) rs114207045 0.00755
NM_001384474.1(LOXHD1):c.4526G>A (p.Gly1509Glu) rs187587197 0.00751
NM_001393500.2(TOMT):c.524G>A (p.Arg175Gln) rs61741195 0.00743
NM_020297.4(ABCC9):c.3409G>A (p.Val1137Ile) rs147895473 0.00739
NM_000138.5(FBN1):c.986T>C (p.Ile329Thr) rs12324002 0.00737
NM_005477.3(HCN4):c.2648C>G (p.Pro883Arg) rs148398509 0.00737
NM_001267550.2(TTN):c.14984C>G (p.Pro4995Arg) rs72648927 0.00729
NM_001849.4(COL6A2):c.316G>A (p.Glu106Lys) rs141703710 0.00717
NM_001005242.3(PKP2):c.76G>A (p.Asp26Asn) rs143004808 0.00716
NM_002273.4(KRT8):c.160T>C (p.Tyr54His) rs57749775 0.00715
NM_002693.3(POLG):c.2492A>G (p.Tyr831Cys) rs41549716 0.00708
NM_001363711.2(DUOX2):c.2182G>A (p.Ala728Thr) rs138353181 0.00700
NM_001387430.1(SH2B1):c.1988C>T (p.Ala663Val) rs190981290 0.00699
NM_170665.4(ATP2A2):c.-10C>G rs201929640 0.00698
NM_170665.4(ATP2A2):c.327A>G (p.Glu109=) rs55984131 0.00696
NM_005148.4(UNC119):c.65G>T (p.Gly22Val) rs199714731 0.00691
NM_001329943.3(KIAA0586):c.257T>C (p.Met86Thr) rs74055693 0.00689
NM_000287.4(PEX6):c.1646C>T (p.Ala549Val) rs115960224 0.00687
NM_001099271.2(POC5):c.1286C>T (p.Ala429Val) rs146984380 0.00682
NM_138694.4(PKHD1):c.2027C>G (p.Pro676Arg) rs115045643 0.00681
NM_000098.3(CPT2):c.302C>T (p.Ala101Val) rs75939866 0.00675
NM_001395656.1(ROBO2):c.1556A>T (p.Asn519Ile) rs80051448 0.00662
NM_153240.5(NPHP3):c.3941G>C (p.Ser1314Thr) rs75316802 0.00658
NM_001999.4(FBN2):c.976C>T (p.Pro326Ser) rs28763954 0.00654
NM_058216.3(RAD51C):c.859A>G (p.Thr287Ala) rs28363317 0.00653
NM_139285.4(GAS2L2):c.1997T>C (p.Leu666Pro) rs137860977 0.00648
NM_004415.4(DSP):c.*9T>A rs11558732 0.00645
NM_152783.5(D2HGDH):c.1276G>A (p.Ala426Thr) rs146578303 0.00633
NM_000275.3(OCA2):c.1441G>A (p.Ala481Thr) rs74653330 0.00630
NM_199242.3(UNC13D):c.753+3G>A rs116229331 0.00627
NM_005529.7(HSPG2):c.3056C>T (p.Pro1019Leu) rs62642528 0.00626
NM_000492.4(CFTR):c.2002C>T (p.Arg668Cys) rs1800100 0.00625
NM_001204.7(BMPR2):c.-669G>A rs115604088 0.00624
NM_000132.4(F8):c.266-19G>A rs28370201 0.00623
NM_000321.3(RB1):c.1574C>G (p.Ala525Gly) rs4151539 0.00623
NM_000204.5(CFI):c.1217G>A (p.Arg406His) rs74817407 0.00599
NM_001195248.2(APTX):c.596G>A (p.Arg199His) rs150886026 0.00598
NM_000059.4(BRCA2):c.9976A>T (p.Lys3326Ter) rs11571833 0.00597
NM_000518.5(HBB):c.93-23T>C rs111851677 0.00593
NM_017693.4(BIVM):c.244A>G (p.Ile82Val) rs41281670 0.00583
NM_003506.4(FZD6):c.1214G>A (p.Arg405Gln) rs150760762 0.00581
NM_015102.5(NPHP4):c.3674C>T (p.Thr1225Met) rs144624477 0.00576
NM_024753.5(TTC21B):c.2322+3A>G rs79037278 0.00575
NM_001065.4(TNFRSF1A):c.224C>T (p.Pro75Leu) rs4149637 0.00574
NM_139027.6(ADAMTS13):c.3287G>A (p.Arg1096His) rs61751476 0.00571
NM_000038.6(APC):c.3949G>C (p.Glu1317Gln) rs1801166 0.00570
NM_000132.4(F8):c.1508G>A (p.Arg503His) rs35383156 0.00563
NM_032545.4(CFC1):c.484T>C (p.Phe162Leu) rs776829911 0.00561
NM_145239.3(PRRT2):c.412C>G (p.Pro138Ala) rs79182085 0.00560
NM_000296.4(PKD1):c.11534+3_11534+5dup rs201204878 0.00559
NM_003359.4(UGDH):c.421C>T (p.Arg141Cys) rs115137663 0.00554
NM_001009944.3(PKD1):c.4051C>T (p.Arg1351Trp) rs55840049 0.00551
NM_003119.4(SPG7):c.1457G>A (p.Arg486Gln) rs111475461 0.00551
NM_004960.4(FUS):c.*41G>A rs80301724 0.00551
NM_001039.4(SCNN1G):c.589G>A (p.Glu197Lys) rs5738 0.00548
NM_002273.4(KRT8):c.184G>T (p.Gly62Cys) rs11554495 0.00545
NM_001308093.3(GATA4):c.912+25G>A rs147860174 0.00539
NM_024753.5(TTC21B):c.3004C>G (p.Leu1002Val) rs146496725 0.00537
NM_000077.5(CDKN2A):c.379G>T (p.Ala127Ser) rs6413464 0.00527
NM_014946.4(SPAST):c.131C>T (p.Ser44Leu) rs121908515 0.00521
NM_000436.4(OXCT1):c.112C>T (p.Arg38Cys) rs76956231 0.00520
NM_000492.4(CFTR):c.1727G>C (p.Gly576Ala) rs1800098 0.00519
NM_000110.4(DPYD):c.775A>G (p.Lys259Glu) rs45589337 0.00513
NM_170784.3(MKKS):c.724G>T (p.Ala242Ser) rs74315394 0.00508
NM_000277.3(PAH):c.820A>G (p.Lys274Glu) rs142934616 0.00496
NM_006915.3(RP2):c.260C>T (p.Thr87Ile) rs147783915 0.00496
NM_001009944.3(PKD1):c.8293C>T (p.Arg2765Cys) rs144979397 0.00495
NM_001264.5(CDSN):c.1358G>A (p.Ser453Asn) rs117951780 0.00494
NM_000286.3(PEX12):c.102A>T (p.Arg34Ser) rs147530802 0.00493
NM_000350.3(ABCA4):c.1927G>A (p.Val643Met) rs61749417 0.00491
NM_000202.8(IDS):c.925A>G (p.Thr309Ala) rs145807417 0.00488
NM_174936.4(PCSK9):c.1274A>G (p.Asn425Ser) rs28362261 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_000104.4(CYP1B1):c.685G>A (p.Glu229Lys) rs57865060 0.00478
NM_015278.5(SASH1):c.3084C>A (p.Ser1028Arg) rs140316955 0.00478
NM_017780.4(CHD7):c.2230G>A (p.Gly744Ser) rs141947938 0.00470
NM_173660.5(DOK7):c.134C>T (p.Ser45Leu) rs62272670 0.00470
NM_170665.4(ATP2A2):c.464-70C>A rs183641769 0.00468
NM_172201.2(KCNE2):c.25C>G (p.Gln9Glu) rs16991652 0.00468
NM_000283.4(PDE6B):c.655T>C (p.Tyr219His) rs62295357 0.00465
NM_001061.7(TBXAS1):c.480C>A (p.Asp160Glu) rs5768 0.00465
NM_000336.3(SCNN1B):c.245C>G (p.Ser82Cys) rs35731153 0.00463
NM_003105.6(SORL1):c.2840C>T (p.Thr947Met) rs143571823 0.00461
NM_017534.6(MYH2):c.2908G>A (p.Val970Ile) rs143872329 0.00456
NM_005502.4(ABCA1):c.688C>T (p.Arg230Cys) rs9282541 0.00452
NM_000311.5(PRNP):c.424G>A (p.Gly142Ser) rs150351644 0.00451
NM_001127222.2(CACNA1A):c.1357G>A (p.Ala453Thr) rs41276886 0.00451
NM_001109878.2(TBX22):c.176-13C>A rs55760411 0.00447
NM_005609.4(PYGM):c.2009C>T (p.Ala670Val) rs113806080 0.00446
NM_030973.4(MED25):c.1004C>T (p.Ala335Val) rs145770066 0.00443
NM_002863.5(PYGL):c.1145C>T (p.Pro382Leu) rs143759519 0.00440
NM_000059.4(BRCA2):c.7008-62A>G rs76584943 0.00439
NM_000256.3(MYBPC3):c.833G>A (p.Gly278Glu) rs147315081 0.00427
NM_000312.4(PROC):c.399C>T (p.Arg133=) rs200045749 0.00427
NM_206933.4(USH2A):c.2546G>A (p.Cys849Tyr) rs111033481 0.00424
NM_181486.4(TBX5):c.787G>A (p.Val263Met) rs147405081 0.00423
NM_000051.4(ATM):c.2250+22A>C rs3218692 0.00419
NM_000051.4(ATM):c.2250+34A>C rs3218705 0.00419
NM_000132.4(F8):c.2994T>G (p.His998Gln) rs149853218 0.00419
NM_007294.4(BRCA1):c.4039A>G (p.Arg1347Gly) rs28897689 0.00419
NM_000540.3(RYR1):c.7209C>T (p.Arg2403=) rs78795178 0.00417
NM_032444.4(SLX4):c.1637A>G (p.Tyr546Cys) rs150547487 0.00416
NM_000515.5(GH1):c.152T>A (p.Phe51Tyr) rs61735357 0.00414
NM_001130987.2(DYSF):c.386G>A (p.Gly129Glu) rs34997054 0.00411
NM_182914.3(SYNE2):c.18632C>T (p.Thr6211Met) rs36215895 0.00411
NM_001097577.3(ANG):c.250A>G (p.Lys84Glu) rs17560 0.00410
NM_000256.3(MYBPC3):c.530G>A (p.Arg177His) rs201012766 0.00405
NM_001330360.2(POLA1):c.3622G>C (p.Asp1208His) rs41548013 0.00404
NM_017617.5(NOTCH1):c.4823G>A (p.Arg1608His) rs76371972 0.00404
NM_000022.4(ADA):c.425G>A (p.Arg142Gln) rs61732239 0.00399
NM_001005242.3(PKP2):c.1445C>T (p.Thr482Met) rs146882581 0.00396
NM_014425.5(INVS):c.1948G>C (p.Ala650Pro) rs147452898 0.00394
NM_144687.4(NLRP12):c.910C>T (p.His304Tyr) rs141245482 0.00392
NM_001710.6(CFB):c.1598A>G (p.Lys533Arg) rs149101394 0.00391
NM_006005.3(WFS1):c.2452C>T (p.Arg818Cys) rs35932623 0.00390
NM_022369.4(STRA6):c.1223G>A (p.Arg408Gln) rs150814749 0.00390
NM_000161.3(GCH1):c.68C>T (p.Pro23Leu) rs41298432 0.00389
NM_004369.4(COL6A3):c.2030G>A (p.Arg677His) rs35227432 0.00389
NM_005543.4(INSL3):c.52G>A (p.Val18Met) rs200056709 0.00389
NM_005560.6(LAMA5):c.7318G>A (p.Val2440Ile) rs150724688 0.00385
NM_181486.4(TBX5):c.331G>T (p.Asp111Tyr) rs77357563 0.00382
NM_207361.6(FREM2):c.8902G>A (p.Val2968Ile) rs116099212 0.00379
NM_000304.4(PMP22):c.353C>T (p.Thr118Met) rs104894619 0.00378
NM_001267550.2(TTN):c.30274C>T (p.His10092Tyr) rs72650011 0.00378
NM_032595.5(PPP1R9B):c.492G>C (p.Glu164Asp) rs199651216 0.00378
NM_022153.2(VSIR):c.839C>T (p.Ser280Leu) rs143240262 0.00376
NM_000327.4(ROM1):c.686G>A (p.Arg229His) rs150168119 0.00375
NM_020117.11(LARS1):c.245A>G (p.Lys82Arg) rs112954500 0.00374
NM_000190.4(HMBS):c.-28A>C rs201349602 0.00371
NM_001128178.3(NPHP1):c.14G>T (p.Arg5Leu) rs190983114 0.00366
NM_024301.5(FKRP):c.427C>A (p.Arg143Ser) rs148206382 0.00359
NM_170784.3(MKKS):c.1015A>G (p.Ile339Val) rs137853909 0.00359
NM_000384.3(APOB):c.3383G>A (p.Arg1128His) rs12713843 0.00356
NM_021912.5(GABRB3):c.31C>T (p.Pro11Ser) rs25409 0.00354
NM_000132.4(F8):c.2114-100A>G rs36044968 0.00349
NM_000447.3(PSEN2):c.211C>T (p.Arg71Trp) rs140501902 0.00349
NM_002206.3(ITGA7):c.2644G>A (p.Glu882Lys) rs144983062 0.00347
NM_000719.7(CACNA1C):c.109G>A (p.Gly37Arg) rs34534613 0.00346
NM_000051.4(ATM):c.6573-30C>T rs775413448 0.00345
NM_001134363.3(RBM20):c.2662G>A (p.Asp888Asn) rs201370621 0.00344
NM_004281.4(BAG3):c.249C>A (p.His83Gln) rs151331972 0.00344
NM_206933.4(USH2A):c.15562A>G (p.Ser5188Gly) rs58257972 0.00343
NM_015058.2(VWA8):c.2003G>A (p.Arg668Gln) rs138075452 0.00342
NM_138694.4(PKHD1):c.8581A>G (p.Ser2861Gly) rs150925674 0.00340
NM_000426.4(LAMA2):c.4487C>T (p.Ala1496Val) rs147077184 0.00338
NM_005472.5(KCNE3):c.248G>A (p.Arg83His) rs17215437 0.00338
NM_001009944.3(PKD1):c.12826C>T (p.Arg4276Trp) rs114251396 0.00335
NM_023067.4(FOXL2):c.*619C>A rs180829214 0.00335
NM_000313.4(PROS1):c.1528G>A (p.Val510Met) rs138925964 0.00331
NM_172364.5(CACNA2D4):c.2120G>A (p.Arg707His) rs76064926 0.00329
NM_004281.4(BAG3):c.1138C>T (p.Pro380Ser) rs144692954 0.00327
NM_000038.6(APC):c.4420G>A (p.Ala1474Thr) rs139387758 0.00324
NM_000501.4(ELN):c.2132G>A (p.Gly711Asp) rs41511151 0.00318
NM_032578.4(MYPN):c.3335C>T (p.Pro1112Leu) rs71534278 0.00318
NM_001849.4(COL6A2):c.2351G>A (p.Arg784His) rs75120695 0.00315
NM_024884.3(L2HGDH):c.1100A>G (p.Tyr367Cys) rs115954396 0.00315
NM_001013836.2(MAD1L1):c.175C>T (p.Arg59Cys) rs121908982 0.00314
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_001110792.2(MECP2):c.1225G>A (p.Glu409Lys) rs56268439 0.00308
NM_024577.4(SH3TC2):c.3686A>T (p.Asp1229Val) rs146920285 0.00306
NM_031307.4(PUS3):c.139G>A (p.Gly47Arg) rs148691077 0.00306
NM_001042492.3(NF1):c.5235G>A (p.Lys1745=) rs17887014 0.00305
NM_002273.4(KRT8):c.187A>G (p.Ile63Val) rs59536457 0.00302
NM_005912.3(MC4R):c.606C>A (p.Phe202Leu) rs138281308 0.00302
NM_007294.4(BRCA1):c.557C>A (p.Ser186Tyr) rs55688530 0.00301
NM_000249.4(MLH1):c.1963A>G (p.Ile655Val) rs55907433 0.00297
NM_000492.4(CFTR):c.4242+13A>G rs76179227 0.00295
NM_001142800.2(EYS):c.2500G>A (p.Val834Ile) rs112464110 0.00293
NM_001009944.3(PKD1):c.6496C>T (p.Arg2166Cys) rs146096401 0.00289
NM_000059.4(BRCA2):c.5640T>G (p.Asn1880Lys) rs11571657 0.00288
NM_004082.5(DCTN1):c.3746C>T (p.Thr1249Ile) rs72466496 0.00287
NM_005045.4(RELN):c.3651C>G (p.Ile1217Met) rs56342240 0.00287
NM_138694.4(PKHD1):c.9866G>T (p.Ser3289Ile) rs148932323 0.00287
NM_000939.4(POMC):c.706C>G (p.Arg236Gly) rs28932472 0.00286
NM_000342.4(SLC4A1):c.2561C>T (p.Pro854Leu) rs2285644 0.00284
NM_012213.3(MLYCD):c.206C>T (p.Ala69Val) rs200579941 0.00284
NM_000518.5(HBB):c.*96T>C rs34029390 0.00283
NM_000540.3(RYR1):c.4178A>G (p.Lys1393Arg) rs137933390 0.00282
NM_080916.3(DGUOK):c.4G>T (p.Ala2Ser) rs147551003 0.00280
NM_001365536.1(SCN9A):c.2248A>G (p.Ile750Val) rs182650126 0.00278
NM_006218.4(PIK3CA):c.2016-12C>T rs147286696 0.00275
NM_182925.5(FLT4):c.2860C>T (p.Pro954Ser) rs34255532 0.00275
NM_000352.6(ABCC8):c.1858C>T (p.Arg620Cys) rs58241708 0.00272
NM_000038.6(APC):c.4360A>G (p.Lys1454Glu) rs111866410 0.00271
NM_014141.6(CNTNAP2):c.1083G>A (p.Val361=) rs139180845 0.00269
NM_002024.6(FMR1):c.*746T>C rs183130936 0.00268
NM_012295.4(CABIN1):c.5821G>C (p.Val1941Leu) rs142219142 0.00267
NM_001126049.2(KLLN):c.-898G>A rs538728843 0.00262
NM_004360.5(CDH1):c.1680G>C (p.Thr560=) rs35741240 0.00261
NM_022124.6(CDH23):c.3293A>G (p.Asn1098Ser) rs41281310 0.00258
NM_004656.4(BAP1):c.1250+42G>A rs150454901 0.00257
NM_001005242.3(PKP2):c.1627G>A (p.Val543Ile) rs146102241 0.00255
NM_014874.4(MFN2):c.1403G>A (p.Arg468His) rs138382758 0.00255
NM_000077.5(CDKN2A):c.430C>T (p.Arg144Cys) rs116150891 0.00248
NM_000276.4(OCRL):c.439+3A>G rs61752971 0.00248
NM_000256.3(MYBPC3):c.2992C>G (p.Gln998Glu) rs11570112 0.00247
NM_000051.4(ATM):c.2921+19dup rs56112367 0.00245
NM_006218.4(PIK3CA):c.2016-29A>T rs374926790 0.00242
NM_005956.4(MTHFD1):c.878G>A (p.Arg293His) rs34181110 0.00241
NM_018706.7(DHTKD1):c.1832A>G (p.Gln611Arg) rs147938299 0.00240
NM_000751.3(CHRND):c.862C>G (p.Gln288Glu) rs41265127 0.00239
NM_001379110.1(SLC9A6):c.1460+4A>G rs180727016 0.00239
NM_213720.3(CHCHD10):c.100C>T (p.Pro34Ser) rs551521196 0.00237
NM_000170.3(GLDC):c.1229G>A (p.Arg410Lys) rs144090917 0.00234
NM_139027.6(ADAMTS13):c.1423C>T (p.Pro475Ser) rs11575933 0.00232
NM_001005242.3(PKP2):c.2260A>G (p.Thr754Ala) rs112592855 0.00231
NM_000514.4(GDNF):c.448G>A (p.Asp150Asn) rs76466003 0.00230
NM_001256789.3(CACNA1F):c.1870G>A (p.Val624Ile) rs141010716 0.00227
NM_017534.6(MYH2):c.3181C>G (p.Leu1061Val) rs142586585 0.00225
NM_153704.6(TMEM67):c.25G>A (p.Val9Met) rs199961375 0.00225
NM_000492.4(CFTR):c.1210-13del rs750294275 0.00222
NM_016932.5(SIX2):c.722C>T (p.Pro241Leu) rs147806994 0.00220
NM_000435.3(NOTCH3):c.4552C>A (p.Leu1518Met) rs141320511 0.00217
NM_003098.3(SNTA1):c.770C>G (p.Ala257Gly) rs56157422 0.00217
NM_001177316.2(SLC34A3):c.1585A>T (p.Ile529Phe) rs140639805 0.00216
NM_001177316.2(SLC34A3):c.1454G>A (p.Arg485His) rs138872455 0.00215
NM_032444.4(SLX4):c.4648C>T (p.Arg1550Trp) rs77021998 0.00214
NM_006005.3(WFS1):c.712+16G>A rs71524367 0.00213
NM_032444.4(SLX4):c.2103G>C (p.Glu701Asp) rs73505420 0.00210
NM_007294.4(BRCA1):c.2167A>G (p.Asn723Asp) rs4986845 0.00209
NM_058216.3(RAD51C):c.790G>A (p.Gly264Ser) rs147241704 0.00207
NM_003888.4(ALDH1A2):c.451G>T (p.Ala151Ser) rs115875978 0.00204
NM_000540.3(RYR1):c.2677G>A (p.Gly893Ser) rs147336515 0.00202
NM_015102.5(NPHP4):c.2882G>A (p.Arg961His) rs183885357 0.00200
NM_021175.4(HAMP):c.212G>A (p.Gly71Asp) rs104894696 0.00197
NM_000053.4(ATP7B):c.3889G>A (p.Val1297Ile) rs148399850 0.00192
NM_000535.7(PMS2):c.2350G>A (p.Asp784Asn) rs143340522 0.00192
NM_000059.4(BRCA2):c.231T>G (p.Thr77=) rs114446594 0.00191
NM_000088.4(COL1A1):c.4006-33G>A rs201920224 0.00190
NM_153704.6(TMEM67):c.1078A>G (p.Thr360Ala) rs140191346 0.00188
NM_000251.3(MSH2):c.23C>T (p.Thr8Met) rs17217716 0.00184
NM_001378418.1(TCF20):c.4670C>T (p.Pro1557Leu) rs199838890 0.00183
NM_000214.3(JAG1):c.2810G>A (p.Arg937Gln) rs145895196 0.00180
NM_004006.3(DMD):c.9682T>C (p.Phe3228Leu) rs141392048 0.00180
NM_000335.5(SCN5A):c.1852C>T (p.Leu618Phe) rs45488304 0.00178
NM_001009944.3(PKD1):c.12460C>T (p.Arg4154Cys) rs115538130 0.00178
NM_152564.5(VPS13B):c.3866C>G (p.Thr1289Ser) rs145569846 0.00178
NM_000256.3(MYBPC3):c.1519G>A (p.Gly507Arg) rs35736435 0.00177
NM_001105206.3(LAMA4):c.5443G>A (p.Val1815Ile) rs3734292 0.00174
NM_002474.3(MYH11):c.739C>T (p.Arg247Cys) rs150759461 0.00174
NM_001037.5(SCN1B):c.448+321G>A rs72558028 0.00173
NM_021625.5(TRPV4):c.649G>T (p.Ala217Ser) rs187864727 0.00172
NM_000030.3(AGXT):c.836T>C (p.Ile279Thr) rs140992177 0.00171
NM_000492.4(CFTR):c.2260G>A (p.Val754Met) rs150157202 0.00171
NM_000540.3(RYR1):c.10616G>A (p.Arg3539His) rs143987857 0.00171
NM_017617.5(NOTCH1):c.4028C>T (p.Ala1343Val) rs183156491 0.00171
NM_006231.4(POLE):c.4523G>A (p.Arg1508His) rs142508245 0.00170
NM_024675.4(PALB2):c.3351-48G>T rs201335445 0.00170
NM_000051.4(ATM):c.5071A>C (p.Ser1691Arg) rs1800059 0.00169
NM_000369.5(TSHR):c.357T>A (p.Pro119=) rs144084915 0.00168
NM_033337.2(CAV3):c.216C>G (p.Cys72Trp) rs116840776 0.00164
NM_000044.6(AR):c.1174C>T (p.Pro392Ser) rs201934623 0.00163
NM_000388.4(CASR):c.748G>A (p.Glu250Lys) rs62269092 0.00163
NM_000532.5(PCCB):c.1490C>T (p.Ala497Val) rs142403318 0.00162
NM_080680.3(COL11A2):c.1615C>T (p.Arg539Trp) rs145499142 0.00162
NM_000185.4(SERPIND1):c.623G>A (p.Arg208His) rs5907 0.00161
NM_001165963.4(SCN1A):c.3521C>G (p.Thr1174Ser) rs121918799 0.00159
NM_001943.5(DSG2):c.1174G>A (p.Val392Ile) rs193922639 0.00158
NM_000548.5(TSC2):c.5383C>T (p.Arg1795Cys) rs45517423 0.00156
NM_004315.6(ASAH1):c.35G>C (p.Arg12Pro) rs147896487 0.00155
NM_001165963.4(SCN1A):c.1625G>A (p.Arg542Gln) rs121918817 0.00154
NM_002471.4(MYH6):c.1763A>C (p.Asp588Ala) rs142992009 0.00153
NM_001846.4(COL4A2):c.5068G>A (p.Ala1690Thr) rs201105747 0.00151
NM_001943.5(DSG2):c.166G>A (p.Val56Met) rs121913013 0.00150
NM_007294.4(BRCA1):c.4682C>T (p.Thr1561Ile) rs56158747 0.00150
NM_024006.6(VKORC1):c.106G>T (p.Asp36Tyr) rs61742245 0.00150
NM_001379200.1(TBX1):c.955G>A (p.Gly319Ser) rs41298838 0.00148
NM_000051.4(ATM):c.2608A>G (p.Asn870Asp) rs61734354 0.00146
NM_000492.4(CFTR):c.853A>T (p.Ile285Phe) rs151073129 0.00145
NM_000512.5(GALNS):c.1462G>A (p.Val488Met) rs78127134 0.00140
NM_014425.5(INVS):c.913G>A (p.Val305Ile) rs116438342 0.00140
NM_000059.4(BRCA2):c.2138A>T (p.Gln713Leu) rs55816687 0.00138
NM_194454.3(KRIT1):c.*132T>G rs572414111 0.00138
NM_000540.3(RYR1):c.2797G>A (p.Ala933Thr) rs148623597 0.00137
NM_001198800.3(ASCC1):c.869A>G (p.Asn290Ser) rs146370051 0.00135
NM_001114753.3(ENG):c.1844C>T (p.Ser615Leu) rs148002300 0.00134
NM_001190880.3(HYI):c.167G>A (p.Gly56Glu) rs551641144 0.00133
NM_004586.3(RPS6KA3):c.2168G>A (p.Arg723His) rs144984628 0.00133
NM_015404.4(WHRN):c.33C>G (p.Ser11Arg) rs45527543 0.00130
NM_000256.3(MYBPC3):c.3106C>T (p.Arg1036Cys) rs61729664 0.00128
NM_003072.5(SMARCA4):c.1419+9C>T rs374635008 0.00128
NM_001130438.3(SPTAN1):c.1330G>A (p.Val444Ile) rs77358650 0.00127
NC_000004.12:g.1394562G>A rs77782813 0.00126
NM_004006.3(DMD):c.7183G>A (p.Ala2395Thr) rs72466590 0.00126
NM_000032.5(ALAS2):c.1559C>T (p.Pro520Leu) rs201062903 0.00124
NM_000051.4(ATM):c.6067G>A (p.Gly2023Arg) rs11212587 0.00124
NM_000443.4(ABCB4):c.101C>T (p.Thr34Met) rs142794414 0.00123
NM_198859.4(PRICKLE2):c.457G>A (p.Val153Ile) rs139747674 0.00120
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_000044.6(AR):c.1960G>A (p.Glu654Lys) rs200737258 0.00116
NM_002878.4(RAD51D):c.146C>T (p.Ala49Val) rs140317560 0.00116
NM_006493.4(CLN5):c.76T>C (p.Trp26Arg) rs199727787 0.00116
NM_130837.3(OPA1):c.239A>G (p.Tyr80Cys) rs151103940 0.00116
NM_000505.4(F12):c.1027G>C (p.Ala343Pro) rs183643295 0.00115
NM_003242.6(TGFBR2):c.1657T>A (p.Ser553Thr) rs112215250 0.00115
NM_001077365.2(POMT1):c.1545C>G (p.Ser515Arg) rs150367385 0.00114
NM_002907.4(RECQL):c.1215A>C (p.Ala405=) rs147610182 0.00110
NM_004006.3(DMD):c.7571G>A (p.Arg2524His) rs151244052 0.00109
NM_000336.3(SCNN1B):c.1152+10T>C rs72654341 0.00108
NM_015278.5(SASH1):c.2459G>A (p.Arg820Gln) rs144633784 0.00108
NM_000540.3(RYR1):c.4711A>G (p.Ile1571Val) rs146429605 0.00107
NM_001379081.2(FREM1):c.1493G>A (p.Arg498Gln) rs184394424 0.00107
NM_206933.4(USH2A):c.5624A>G (p.Asn1875Ser) rs141609561 0.00107
NM_000256.3(MYBPC3):c.3413G>A (p.Arg1138His) rs187705120 0.00106
NM_139027.6(ADAMTS13):c.2708C>T (p.Ser903Leu) rs78977446 0.00106
NM_000540.3(RYR1):c.7025A>G (p.Asn2342Ser) rs147213895 0.00104
NM_000329.3(RPE65):c.394G>A (p.Ala132Thr) rs61752878 0.00103
NM_004380.3(CREBBP):c.2678C>T (p.Ser893Leu) rs142047649 0.00102
NM_020708.5(SLC12A5):c.2855G>A (p.Arg952His) rs142740233 0.00102
NM_000540.3(RYR1):c.5036G>A (p.Arg1679His) rs146504767 0.00101
NM_001008212.2(OPTN):c.1634G>A (p.Arg545Gln) rs75654767 0.00101
NM_000059.4(BRCA2):c.7504C>T (p.Arg2502Cys) rs55716624 0.00100
NM_000455.5(STK11):c.894C>A (p.Phe298Leu) rs199681533 0.00100
NM_005245.4(FAT1):c.4358G>A (p.Arg1453His) rs186220887 0.00099
NM_007294.4(BRCA1):c.4883T>C (p.Met1628Thr) rs4986854 0.00098
NM_001009944.3(PKD1):c.10678G>A (p.Gly3560Arg) rs79000340 0.00097
NM_000051.4(ATM):c.6860G>C (p.Gly2287Ala) rs1800061 0.00096
NM_000059.4(BRCA2):c.6937+594T>G rs191253965 0.00096
NM_001005242.3(PKP2):c.505A>G (p.Ser169Gly) rs139139859 0.00096
NM_001283009.2(RTEL1):c.3049G>A (p.Asp1017Asn) rs61736617 0.00096
NM_007294.4(BRCA1):c.3022A>G (p.Met1008Val) rs56321129 0.00095
NM_000261.2(MYOC):c.1054G>A (p.Glu352Lys) rs61745146 0.00093
NM_024864.5(MRM1):c.504C>G (p.Phe168Leu) rs138258458 0.00093
NM_000441.2(SLC26A4):c.2190G>T (p.Gln730His) rs142723249 0.00092
NM_001005242.3(PKP2):c.156G>A (p.Lys52=) rs201210997 0.00092
NM_001127222.2(CACNA1A):c.2687C>G (p.Pro896Arg) rs121908242 0.00091
NM_000492.4(CFTR):c.1523T>G (p.Phe508Cys) rs74571530 0.00090
NM_000268.4(NF2):c.1386C>T (p.Arg462=) rs138354622 0.00086
NM_001110219.3(GJB6):c.607A>G (p.Met203Val) rs200674715 0.00086
NM_001146312.3(MYOCD):c.1252A>G (p.Ile418Val) rs137939966 0.00086
NM_004281.4(BAG3):c.280A>T (p.Ile94Phe) rs145393807 0.00085
NM_004963.4(GUCY2C):c.893C>T (p.Thr298Met) rs148946391 0.00085
NM_000492.4(CFTR):c.443T>C (p.Ile148Thr) rs35516286 0.00083
NM_000268.4(NF2):c.1451T>C (p.Met484Thr) rs141538143 0.00082
NM_001110556.2(FLNA):c.4451A>G (p.Gln1484Arg) rs200130356 0.00081
NM_004329.3(BMPR1A):c.1327C>T (p.Arg443Cys) rs35619497 0.00081
NM_000051.4(ATM):c.334G>A (p.Ala112Thr) rs146382972 0.00080
NM_000090.4(COL3A1):c.1550C>T (p.Pro517Leu) rs142085247 0.00080
NM_001110792.2(MECP2):c.1366G>A (p.Ala456Thr) rs61753975 0.00080
NM_007078.3(LDB3):c.1535A>C (p.Gln512Pro) rs138951890 0.00080
NM_000268.4(NF2):c.599+40C>T rs1292869497 0.00079
NM_000321.3(RB1):c.920C>T (p.Thr307Ile) rs183898408 0.00079
NM_017617.5(NOTCH1):c.2080G>A (p.Glu694Lys) rs79782048 0.00079
NC_000015.10:g.82540460G>A rs575115395 0.00078
NM_000138.5(FBN1):c.6700G>A (p.Val2234Met) rs112084407 0.00078
NM_005732.4(RAD50):c.3036+5G>A rs181016343 0.00078
NM_022124.6(CDH23):c.2263C>T (p.His755Tyr) rs181255269 0.00078
NM_201596.3(CACNB2):c.641G>C (p.Ser214Thr) rs149253719 0.00078
NM_002469.3(MYF6):c.269C>A (p.Ala90Asp) rs138296448 0.00077
NM_000545.8(HNF1A):c.92G>A (p.Gly31Asp) rs137853247 0.00076
NM_000321.3(RB1):c.2566G>A (p.Asp856Asn) rs149359120 0.00075
NM_000540.3(RYR1):c.10097G>A (p.Arg3366His) rs137932199 0.00073
NM_001126128.2(PROK2):c.-4C>A rs552496938 0.00073
NM_001165963.4(SCN1A):c.5782C>G (p.Arg1928Gly) rs121917956 0.00073
NM_001370259.2(MEN1):c.-22C>A rs374749001 0.00073
NM_004387.4(NKX2-5):c.61G>C (p.Glu21Gln) rs104893904 0.00073
NM_016333.4(SRRM2):c.1037C>T (p.Ser346Phe) rs149019598 0.00073
NM_004393.6(DAG1):c.331G>A (p.Asp111Asn) rs117209107 0.00072
NM_000038.6(APC):c.1604C>T (p.Ser535Phe) rs75870842 0.00071
NM_005245.4(FAT1):c.8991G>A (p.Thr2997=) rs138496810 0.00071
NM_005359.6(SMAD4):c.1573A>G (p.Ile525Val) rs149755320 0.00071
NM_001165963.4(SCN1A):c.3924A>T (p.Glu1308Asp) rs121917910 0.00070
NM_004176.5(SREBF1):c.332C>T (p.Pro111Leu) rs115855236 0.00070
NM_000503.6(EYA1):c.1460C>T (p.Ser487Leu) rs139717960 0.00069
NM_012295.4(CABIN1):c.45T>G (p.Asp15Glu) rs148623569 0.00069
NM_000475.5(NR0B1):c.376G>A (p.Val126Met) rs193205940 0.00068
NM_001199107.2(TBC1D24):c.641G>A (p.Arg214His) rs200324356 0.00068
NM_001371279.1(REEP1):c.837G>T (p.Ser279=) rs377637314 0.00068
NM_000179.3(MSH6):c.1526T>C (p.Val509Ala) rs63751005 0.00067
NM_017514.5(PLXNA3):c.56G>A (p.Gly19Asp) rs202070666 0.00066
NM_000540.3(RYR1):c.2122G>A (p.Asp708Asn) rs138874610 0.00065
NM_015375.3(DSTYK):c.86G>A (p.Arg29Gln) rs200780796 0.00065
NM_000251.3(MSH2):c.55T>C (p.Phe19Leu) rs141711342 0.00063
NM_000256.3(MYBPC3):c.3682C>T (p.Arg1228Cys) rs201312636 0.00063
NM_000335.5(SCN5A):c.5357G>A (p.Ser1786Asn) rs199473316 0.00063
NM_001035.3(RYR2):c.3038G>A (p.Arg1013Gln) rs149514924 0.00063
NM_001244008.2(KIF1A):c.3494T>C (p.Ile1165Thr) rs35698242 0.00063
NM_001267550.2(TTN):c.107576T>C (p.Met35859Thr) rs72629793 0.00063
NM_004807.3(HS6ST1):c.1144C>T (p.Arg382Trp) rs199538589 0.00063
NM_006348.5(COG5):c.1826T>C (p.Ile609Thr) rs142433421 0.00063
NM_030665.4(RAI1):c.3650G>A (p.Arg1217Gln) rs142415050 0.00063
NM_000051.4(ATM):c.320G>A (p.Cys107Tyr) rs142358238 0.00062
NM_000238.4(KCNH2):c.442C>T (p.Arg148Trp) rs139544114 0.00062
NM_012268.4(PLD3):c.851A>G (p.Asn284Ser) rs200274020 0.00062
NM_000238.4(KCNH2):c.1039C>T (p.Pro347Ser) rs138776684 0.00061
NM_000388.4(CASR):c.3091G>A (p.Gly1031Ser) rs142704083 0.00061
NM_001267550.2(TTN):c.3100G>A (p.Val1034Met) rs142951505 0.00061
NM_001378615.1(CC2D2A):c.2161C>T (p.Pro721Ser) rs199768782 0.00061
NM_001715.3(BLK):c.1075C>T (p.Arg359Cys) rs146505280 0.00059
NM_007294.4(BRCA1):c.4691T>C (p.Leu1564Pro) rs56119278 0.00059
NM_000531.6(OTC):c.298+5G>C rs72554348 0.00058
NM_000038.6(APC):c.4336G>A (p.Ala1446Thr) rs146572883 0.00056
NM_000051.4(ATM):c.7313C>T (p.Thr2438Ile) rs147604227 0.00056
NM_000313.4(PROS1):c.76+7A>G rs201928951 0.00056
NM_018451.5(CENPJ):c.2462C>T (p.Thr821Met) rs144938364 0.00056
NM_020975.6(RET):c.833C>A (p.Thr278Asn) rs35118262 0.00056
NM_206933.4(USH2A):c.12343C>T (p.Arg4115Cys) rs111033275 0.00056
NM_032409.3(PINK1):c.558G>C (p.Lys186Asn) rs143204084 0.00055
NM_000059.4(BRCA2):c.1964C>G (p.Pro655Arg) rs28897712 0.00054
NM_001366385.1(CARD14):c.1772C>T (p.Thr591Met) rs200102454 0.00054
NM_003742.4(ABCB11):c.1772A>G (p.Asn591Ser) rs11568367 0.00054
NM_000051.4(ATM):c.4424A>G (p.Tyr1475Cys) rs34640941 0.00053
NM_000251.3(MSH2):c.1563T>C (p.Tyr521=) rs63750330 0.00053
NM_000601.6(HGF):c.1891G>A (p.Val631Met) rs145494248 0.00053
NM_001374353.1(GLI2):c.2108G>A (p.Arg703His) rs149091975 0.00053
NM_012140.5(SLC25A10):c.763-37G>A rs200706742 0.00053
NM_004329.3(BMPR1A):c.1243G>A (p.Glu415Lys) rs140592056 0.00051
NM_007194.4(CHEK2):c.538C>T (p.Arg180Cys) rs77130927 0.00051
NM_024675.4(PALB2):c.23C>T (p.Pro8Leu) rs150390726 0.00051
NM_000122.2(ERCC3):c.1828-36C>T rs113416031 0.00050
NM_005245.4(FAT1):c.8963A>T (p.Lys2988Ile) rs74986565 0.00050
NM_206933.4(USH2A):c.15427C>T (p.Arg5143Cys) rs145771342 0.00050
NM_000335.5(SCN5A):c.553G>A (p.Ala185Thr) rs192113333 0.00049
NM_005429.5(VEGFC):c.553-15G>T rs370267488 0.00049
NM_206933.4(USH2A):c.11927C>T (p.Thr3976Met) rs142381713 0.00049
NM_000059.4(BRCA2):c.7994A>G (p.Asp2665Gly) rs28897745 0.00048
NM_000363.5(TNNI3):c.235C>T (p.Arg79Cys) rs3729712 0.00048
NM_002834.5(PTPN11):c.1658C>T (p.Thr553Met) rs148176616 0.00048
NM_006514.4(SCN10A):c.3674T>C (p.Ile1225Thr) rs139638446 0.00048
NM_174936.4(PCSK9):c.426C>G (p.Tyr142Ter) rs67608943 0.00048
NM_206933.4(USH2A):c.2052A>G (p.Gln684=) rs111033248 0.00048
NM_000180.4(GUCY2D):c.164C>T (p.Thr55Met) rs201414567 0.00047
NM_000261.2(MYOC):c.878C>A (p.Thr293Lys) rs139122673 0.00047
NM_000051.4(ATM):c.4709T>C (p.Val1570Ala) rs140856217 0.00046
NM_000052.7(ATP7A):c.2903A>G (p.Glu968Gly) rs138958687 0.00046
NM_000251.3(MSH2):c.815C>T (p.Ala272Val) rs34136999 0.00046
NM_000256.3(MYBPC3):c.1246G>A (p.Gly416Ser) rs371513491 0.00046
NM_000492.4(CFTR):c.274-6T>C rs371315549 0.00046
NM_000245.4(MET):c.959C>T (p.Ala320Val) rs35776110 0.00045
NM_000268.4(NF2):c.1387G>A (p.Glu463Lys) rs74315503 0.00044
NM_001048174.2(MUTYH):c.11C>T (p.Pro4Leu) rs79777494 0.00044
NM_001048174.2(MUTYH):c.32G>A (p.Gly11Asp) rs75321043 0.00044
NM_133497.4(KCNV2):c.80G>A (p.Arg27His) rs145731729 0.00044
NM_145239.3(PRRT2):c.439G>C (p.Asp147His) rs79568162 0.00044
NM_000169.3(GLA):c.376A>G (p.Ser126Gly) rs149391489 0.00043
NM_000891.3(KCNJ2):c.1229A>G (p.Asn410Ser) rs141069645 0.00042
NM_006013.5(RPL10):c.628C>T (p.Arg210Trp) rs979369776 0.00042
NM_000335.5(SCN5A):c.694G>A (p.Val232Ile) rs45471994 0.00041
NM_000545.8(HNF1A):c.965A>G (p.Tyr322Cys) rs140491072 0.00041
NM_012295.4(CABIN1):c.1468C>T (p.Arg490Cys) rs201606398 0.00041
NM_000321.3(RB1):c.411A>T (p.Glu137Asp) rs3092902 0.00040
NM_000335.5(SCN5A):c.5708C>T (p.Ser1903Leu) rs150264233 0.00040
NM_000371.4(TTR):c.328C>A (p.His110Asn) rs121918074 0.00040
NM_007294.4(BRCA1):c.4675+55A>G rs934064952 0.00040
NM_001127222.2(CACNA1A):c.5897G>A (p.Arg1966Gln) rs199886234 0.00039
NM_001384140.1(PCDH15):c.2884C>T (p.Arg962Cys) rs201816080 0.00039
NM_020975.6(RET):c.1946C>T (p.Ser649Leu) rs148935214 0.00039
NM_182961.4(SYNE1):c.19692+3G>A rs150304757 0.00039
NM_198578.4(LRRK2):c.2697A>C (p.Glu899Asp) rs148113070 0.00039
NM_000038.6(APC):c.5690A>C (p.His1897Pro) rs112610898 0.00038
NM_000051.4(ATM):c.3403-14A>T rs941737393 0.00038
NM_000251.3(MSH2):c.1511-41G>C rs202215396 0.00038
NM_000492.4(CFTR):c.3080T>C (p.Ile1027Thr) rs1800112 0.00038
NM_004360.5(CDH1):c.808T>G (p.Ser270Ala) rs587776399 0.00038
NM_022455.5(NSD1):c.4892A>G (p.Lys1631Arg) rs201857437 0.00038
NM_032119.4(ADGRV1):c.6559A>G (p.Ile2187Val) rs200512504 0.00037
NM_000179.3(MSH6):c.2561A>T (p.Lys854Met) rs34374438 0.00036
NM_000256.3(MYBPC3):c.1286C>T (p.Ala429Val) rs370412052 0.00036
NM_000256.3(MYBPC3):c.3535G>A (p.Glu1179Lys) rs199669878 0.00036
NM_000301.5(PLG):c.1858G>A (p.Ala620Thr) rs121918027 0.00036
NM_000719.7(CACNA1C):c.1468G>A (p.Gly490Arg) rs121912775 0.00036
NM_000742.4(CHRNA2):c.140C>T (p.Thr47Met) rs74772771 0.00036
NM_002471.4(MYH6):c.4136C>T (p.Thr1379Met) rs145611185 0.00036
NM_004281.3(BAG3):c.772C>T (p.Arg258Trp) rs117671123 0.00036
NM_004850.5(ROCK2):c.1802A>T (p.Asp601Val) rs35768389 0.00036
NM_000161.3(GCH1):c.206C>T (p.Pro69Leu) rs56127440 0.00035
NM_000256.3(MYBPC3):c.1855G>A (p.Glu619Lys) rs200352299 0.00035
NM_000059.4(BRCA2):c.322A>C (p.Asn108His) rs80358567 0.00034
NM_000249.4(MLH1):c.1321G>A (p.Ala441Thr) rs63750365 0.00034
NM_000257.4(MYH7):c.4909G>A (p.Ala1637Thr) rs141122361 0.00034
NM_001110792.2(MECP2):c.623C>G (p.Thr208Ser) rs61749713 0.00034
NM_003242.6(TGFBR2):c.944C>T (p.Thr315Met) rs34833812 0.00034
NM_003482.4(KMT2D):c.6811C>T (p.Pro2271Ser) rs199802471 0.00034
NM_032977.4(CASP10):c.-8+5G>A rs781551128 0.00034
NM_033028.5(BBS4):c.1414A>G (p.Met472Val) rs2277596 0.00034
NM_033380.3(COL4A5):c.2215C>G (p.Pro739Ala) rs104886164 0.00034
NM_206933.4(USH2A):c.5609G>A (p.Arg1870Gln) rs111033409 0.00034
NM_001267550.2(TTN):c.45599C>G (p.Ala15200Gly) rs201057307 0.00033
NM_032977.4(CASP10):c.1202_1208del (p.Cys401fs) rs747900630 0.00033
NM_000051.4(ATM):c.2494C>T (p.Arg832Cys) rs2229022 0.00032
NM_001042492.3(NF1):c.1933A>G (p.Met645Val) rs146051850 0.00032
NM_007294.4(BRCA1):c.1036C>T (p.Pro346Ser) rs80357015 0.00032
NM_000020.3(ACVRL1):c.88C>T (p.Pro30Ser) rs149664056 0.00031
NM_000038.6(APC):c.7490C>T (p.Ser2497Leu) rs141010008 0.00031
NM_000548.5(TSC2):c.3430G>A (p.Val1144Met) rs45517294 0.00031
NM_004004.6(GJB2):c.499G>A (p.Val167Met) rs111033360 0.00031
NM_004369.4(COL6A3):c.4912G>A (p.Ala1638Thr) rs114322958 0.00031
NM_005228.5(EGFR):c.241-8C>G rs138872748 0.00031
NM_005429.5(VEGFC):c.805G>A (p.Gly269Arg) rs200182587 0.00031
NM_018117.12(WDR11):c.3450T>G (p.Phe1150Leu) rs139007744 0.00031
NM_001110792.2(MECP2):c.1108G>A (p.Ala370Thr) rs147017239 0.00030
NM_015922.3(NSDHL):c.*129C>T rs145978994 0.00030
NM_000368.5(TSC1):c.1960C>G (p.Gln654Glu) rs75820036 0.00029
NM_000527.5(LDLR):c.507C>T (p.Asn169=) rs146354103 0.00029
NM_001089.3(ABCA3):c.367G>A (p.Asp123Asn) rs145087575 0.00029
NM_000138.5(FBN1):c.7072G>A (p.Val2358Ile) rs140537304 0.00028
NM_000179.3(MSH6):c.3217C>T (p.Pro1073Ser) rs142254875 0.00028
NM_000261.2(MYOC):c.1058C>T (p.Thr353Ile) rs137853277 0.00028
NM_000548.5(TSC2):c.3284+25C>T rs370495938 0.00028
NM_001375883.1(GPR161):c.-5T>A rs200635937 0.00028
NM_152564.5(VPS13B):c.7366G>A (p.Val2456Ile) rs201963516 0.00027
NM_000077.5(CDKN2A):c.318G>A (p.Val106=) rs199888003 0.00026
NM_000154.2(GALK1):c.-22T>C rs545362817 0.00026
NM_000179.3(MSH6):c.4002-10T>A rs545466048 0.00026
NM_000335.5(SCN5A):c.5870G>A (p.Arg1957Gln) rs199473331 0.00026
NM_002834.5(PTPN11):c.925A>G (p.Ile309Val) rs201787206 0.00026
NM_004360.5(CDH1):c.2413G>A (p.Asp805Asn) rs200894246 0.00026
NM_004415.4(DSP):c.7916G>A (p.Arg2639Gln) rs116888866 0.00026
NM_007294.4(BRCA1):c.736T>G (p.Leu246Val) rs28897675 0.00026
NM_000059.4(BRCA2):c.1786G>C (p.Asp596His) rs56328701 0.00025
NM_000059.4(BRCA2):c.440A>G (p.Gln147Arg) rs80358674 0.00025
NM_000546.6(TP53):c.704A>G (p.Asn235Ser) rs144340710 0.00025
NM_001165963.4(SCN1A):c.3749C>T (p.Thr1250Met) rs140731963 0.00025
NM_000044.6(AR):c.528C>A (p.Ser176Arg) rs777131133 0.00024
NM_000245.4(MET):c.967A>G (p.Ser323Gly) rs201467281 0.00024
NM_003482.4(KMT2D):c.12485G>A (p.Arg4162Gln) rs201078160 0.00024
NM_025130.4(HKDC1):c.1258C>T (p.His420Tyr) rs201518882 0.00024
NM_144997.7(FLCN):c.715C>T (p.Arg239Cys) rs78683075 0.00024
NM_198253.3(TERT):c.1138C>T (p.Pro380Ser) rs144756946 0.00024
NM_000090.4(COL3A1):c.1815+5G>A rs146652498 0.00023
NM_001148.6(ANK2):c.4315G>T (p.Gly1439Cys) rs34591340 0.00023
NM_000059.4(BRCA2):c.9502-12T>G rs81002803 0.00022
NM_000249.4(MLH1):c.2066A>G (p.Gln689Arg) rs63750702 0.00022
NM_004176.5(SREBF1):c.677C>T (p.Thr226Met) rs70937019 0.00022
NM_004360.5(CDH1):c.1018A>G (p.Thr340Ala) rs116093741 0.00022
NM_007078.3(LDB3):c.1049C>T (p.Thr350Ile) rs200796750 0.00022
NM_025114.4(CEP290):c.6787A>G (p.Ser2263Gly) rs77778467 0.00022
NM_201596.3(CACNB2):c.380C>T (p.Ala127Val) rs200367454 0.00022
NM_024426.6(WT1):c.-106C>T rs867975105 0.00021
NM_015046.7(SETX):c.4273A>G (p.Lys1425Glu) rs534886444 0.00020
NM_206933.4(USH2A):c.10510C>G (p.Pro3504Ala) rs200372118 0.00020
NM_000179.3(MSH6):c.4001+11_4001+15dup rs587779302 0.00019
NM_000251.3(MSH2):c.1255C>A (p.Gln419Lys) rs63750006 0.00019
NM_000535.7(PMS2):c.1243G>A (p.Val415Met) rs138387687 0.00019
NM_000548.5(TSC2):c.5378G>A (p.Arg1793Gln) rs45506695 0.00019
NM_007294.4(BRCA1):c.4484+14A>G rs80358022 0.00019
NM_020975.6(RET):c.1529C>T (p.Ala510Val) rs201745826 0.00019
NM_032119.4(ADGRV1):c.6994A>T (p.Ile2332Phe) rs193030567 0.00019
NM_000038.6(APC):c.3374T>C (p.Val1125Ala) rs377278397 0.00018
NM_000059.4(BRCA2):c.2350A>G (p.Met784Val) rs11571653 0.00018
NM_000059.4(BRCA2):c.7712A>G (p.Glu2571Gly) rs55689095 0.00018
NM_000251.3(MSH2):c.1730T>C (p.Ile577Thr) rs63749910 0.00018
NM_000335.5(SCN5A):c.2074C>A (p.Gln692Lys) rs45553235 0.00018
NM_000361.3(THBD):c.-151G>T rs16984852 0.00018
NM_000368.5(TSC1):c.3184C>T (p.Arg1062Trp) rs118203745 0.00018
NM_000546.6(TP53):c.935C>G (p.Thr312Ser) rs145151284 0.00018
NM_000548.5(TSC2):c.3421G>A (p.Ala1141Thr) rs45505895 0.00018
NM_001378743.1(CYLD):c.514C>T (p.Arg172Cys) rs201836260 0.00018
NM_006005.3(WFS1):c.2209G>A (p.Glu737Lys) rs147834269 0.00018
NM_007294.4(BRCA1):c.5406+33A>T rs80358092 0.00018
NM_000038.6(APC):c.3479C>A (p.Thr1160Lys) rs201004111 0.00017
NM_000249.4(MLH1):c.2101C>A (p.Gln701Lys) rs63750114 0.00016
NM_000249.4(MLH1):c.65G>C (p.Gly22Ala) rs41295280 0.00016
NM_000261.2(MYOC):c.34G>C (p.Gly12Arg) rs199752860 0.00016
NM_000540.3(RYR1):c.9713A>G (p.Glu3238Gly) rs200950673 0.00016
NM_001035.3(RYR2):c.4652A>G (p.Asn1551Ser) rs185237690 0.00016
NM_001040142.2(SCN2A):c.4565G>C (p.Gly1522Ala) rs147522594 0.00016
NM_002880.4(RAF1):c.122G>A (p.Arg41Gln) rs145611571 0.00016
NM_003482.4(KMT2D):c.626C>T (p.Thr209Ile) rs373972024 0.00016
NM_014112.5(TRPS1):c.2441G>T (p.Arg814Leu) rs146506752 0.00016
NM_032043.3(BRIP1):c.2440C>T (p.Arg814Cys) rs201869624 0.00016
NM_213720.3(CHCHD10):c.239C>T (p.Pro80Leu) rs775332895 0.00016
NM_000038.6(APC):c.6985A>G (p.Ile2329Val) rs146048493 0.00015
NM_000548.5(TSC2):c.1939G>A (p.Asp647Asn) rs45509392 0.00015
NM_001276345.2(TNNT2):c.692T>C (p.Ile231Thr) rs45520032 0.00015
NM_001382430.1(AKT1):c.406G>A (p.Val136Met) rs778376616 0.00015
NM_004360.5(CDH1):c.2329G>A (p.Asp777Asn) rs372989292 0.00015
NM_031276.3(TEX11):c.2243T>C (p.Val748Ala) rs200139216 0.00015
NM_133433.4(NIPBL):c.6478G>T (p.Asp2160Tyr) rs147054690 0.00015
NM_000020.3(ACVRL1):c.652C>T (p.Arg218Trp) rs199874575 0.00014
NM_000059.4(BRCA2):c.742G>A (p.Ala248Thr) rs55854959 0.00014
NM_000179.3(MSH6):c.2398G>C (p.Val800Leu) rs61748083 0.00014
NM_000249.4(MLH1):c.803A>G (p.Glu268Gly) rs63750650 0.00014
NM_000465.4(BARD1):c.1203T>C (p.Ser401=) rs370553043 0.00014
NM_002693.3(POLG):c.3436C>T (p.Arg1146Cys) rs2307440 0.00014
NM_004004.6(GJB2):c.511G>A (p.Ala171Thr) rs201004645 0.00014
NM_005257.6(GATA6):c.551G>A (p.Ser184Asn) rs387906816 0.00014
NM_012193.4(FZD4):c.205C>T (p.His69Tyr) rs80358282 0.00014
NM_013447.4(ADGRE2):c.1492del (p.Thr498fs) rs771415140 0.00014
NM_013447.4(ADGRE2):c.355G>C (p.Asp119His) rs751263352 0.00014
NM_022788.5(P2RY12):c.365G>A (p.Arg122His) rs778790805 0.00014
NM_170784.3(MKKS):c.1553G>A (p.Arg518His) rs149051148 0.00014
NM_000059.4(BRCA2):c.3445A>G (p.Met1149Val) rs80358589 0.00013
NM_000075.4(CDK4):c.122A>G (p.Asn41Ser) rs144890720 0.00013
NM_000535.7(PMS2):c.620G>A (p.Gly207Glu) rs374704824 0.00013
NM_001127511.3(APC):c.119G>C (p.Ser40Thr) rs587778028 0.00013
NM_005765.3(ATP6AP2):c.217C>T (p.Arg73Trp) rs749401561 0.00013
NM_013447.4(ADGRE2):c.364G>A (p.Glu122Lys) rs200783500 0.00013
NM_001317778.2(SFTPC):c.445G>C (p.Ala149Pro) rs202145169 0.00012
NM_003955.5(SOCS3):c.408C>A (p.Phe136Leu) rs17849241 0.00012
NM_007294.4(BRCA1):c.2315T>C (p.Val772Ala) rs80357467 0.00012
NM_000314.8(PTEN):c.235G>A (p.Ala79Thr) rs202004587 0.00011
NM_000435.3(NOTCH3):c.4348G>A (p.Ala1450Thr) rs201082692 0.00011
NM_000447.3(PSEN2):c.640G>T (p.Val214Leu) rs574125890 0.00011
NM_004360.5(CDH1):c.1223C>T (p.Ala408Val) rs138135866 0.00011
NM_004360.5(CDH1):c.2512A>G (p.Ser838Gly) rs121964872 0.00011
NM_007294.4(BRCA1):c.4934G>C (p.Arg1645Thr) rs70953661 0.00011
NM_206933.4(USH2A):c.2633G>A (p.Arg878His) rs200124505 0.00011
NM_206933.4(USH2A):c.8342C>T (p.Thr2781Ile) rs143240767 0.00011
NM_001317778.2(SFTPC):c.176A>G (p.His59Arg) rs201567623 0.00010
NM_001332.4(CTNND2):c.100G>A (p.Gly34Ser) rs151129181 0.00010
NM_004006.3(DMD):c.1318G>A (p.Glu440Lys) rs189143447 0.00010
NM_138959.3(VANGL1):c.248C>T (p.Ser83Leu) rs146695372 0.00010
NM_000059.4(BRCA2):c.9875C>T (p.Pro3292Leu) rs56121817 0.00009
NM_000264.5(PTCH1):c.4219G>A (p.Gly1407Ser) rs56161606 0.00009
NM_000335.5(SCN5A):c.934+4C>T rs182050752 0.00009
NM_000435.3(NOTCH3):c.6569C>T (p.Ala2190Val) rs528151296 0.00009
NM_000441.2(SLC26A4):c.841G>A (p.Val281Ile) rs727505080 0.00009
NM_000465.4(BARD1):c.1694G>A (p.Arg565His) rs146946984 0.00009
NM_001037.5(SCN1B):c.448+189C>A rs766373298 0.00009
NM_001370259.2(MEN1):c.511C>T (p.Arg171Trp) rs143329068 0.00009
NM_003244.4(TGIF1):c.377T>C (p.Val126Ala) rs199580307 0.00009
NM_004415.4(DSP):c.5513G>A (p.Arg1838His) rs377715841 0.00009
NM_004656.4(BAP1):c.121G>A (p.Gly41Ser) rs372586694 0.00009
NM_005245.4(FAT1):c.4723G>A (p.Ala1575Thr) rs768661863 0.00009
NM_013447.4(ADGRE2):c.584G>A (p.Trp195Ter) rs752508886 0.00009
NM_000059.4(BRCA2):c.9501+3A>T rs61757642 0.00008
NM_000249.4(MLH1):c.1742C>T (p.Pro581Leu) rs63751684 0.00008
NM_000251.3(MSH2):c.1690A>G (p.Thr564Ala) rs55778204 0.00008
NM_000465.4(BARD1):c.1409A>G (p.Asn470Ser) rs587781976 0.00008
NM_002968.3(SALL1):c.1738A>G (p.Ile580Val) rs761575154 0.00008
NM_004360.5(CDH1):c.387+5G>A rs113055163 0.00008
NM_007294.4(BRCA1):c.4882A>G (p.Met1628Val) rs80357465 0.00008
NM_013447.4(ADGRE2):c.635-2A>C rs779707406 0.00008
NM_172107.4(KCNQ2):c.2613G>T (p.Arg871Ser) rs587780369 0.00008
NM_206933.2(USH2A):c.3902G>T (p.Gly1301Val) rs111033524 0.00008
NM_000051.4(ATM):c.2021A>G (p.His674Arg) rs201762714 0.00007
NM_000075.4(CDK4):c.776C>T (p.Ser259Leu) rs201617914 0.00007
NM_000122.2(ERCC3):c.1828-33C>T rs745775695 0.00007
NM_000179.3(MSH6):c.1054G>A (p.Val352Ile) rs730881787 0.00007
NM_000238.4(KCNH2):c.422C>T (p.Pro141Leu) rs199472864 0.00007
NM_000435.3(NOTCH3):c.709G>A (p.Val237Met) rs2285981 0.00007
NM_000492.4(CFTR):c.1043T>A (p.Met348Lys) rs142920240 0.00007
NM_001167.4(XIAP):c.962C>G (p.Ala321Gly) rs182340753 0.00007
NM_002448.3(MSX1):c.127A>C (p.Met43Leu) rs565664559 0.00007
NM_005245.4(FAT1):c.10331A>G (p.Asn3444Ser) rs188148421 0.00007
NM_007294.4(BRCA1):c.1865C>T (p.Ala622Val) rs56039126 0.00007
NM_013447.4(ADGRE2):c.2266G>T (p.Ala756Ser) rs373190699 0.00007
NM_000038.6(APC):c.5026A>G (p.Arg1676Gly) rs370560998 0.00006
NM_000057.4(BLM):c.114A>G (p.Lys38=) rs770017301 0.00006
NM_000059.4(BRCA2):c.1662T>G (p.Cys554Trp) rs80358451 0.00006
NM_000179.3(MSH6):c.1019T>C (p.Phe340Ser) rs61753793 0.00006
NM_000179.3(MSH6):c.3478G>A (p.Val1160Ile) rs376799914 0.00006
NM_000179.3(MSH6):c.3986C>T (p.Ser1329Leu) rs199594809 0.00006
NM_000238.4(KCNH2):c.3112G>A (p.Val1038Met) rs199473544 0.00006
NM_000251.3(MSH2):c.499G>C (p.Asp167His) rs63750255 0.00006
NM_000257.4(MYH7):c.1322C>T (p.Thr441Met) rs121913653 0.00006
NM_000257.4(MYH7):c.2360G>A (p.Arg787His) rs376754645 0.00006
NM_000335.5(SCN5A):c.3068G>A (p.Arg1023His) rs199473592 0.00006
NM_000335.5(SCN5A):c.52C>T (p.Arg18Trp) rs199473044 0.00006
NM_000335.5(SCN5A):c.5452G>A (p.Asp1818Asn) rs137854619 0.00006
NM_000455.5(STK11):c.842C>T (p.Pro281Leu) rs121913322 0.00006
NM_000492.4(CFTR):c.1519A>G (p.Ile507Val) rs1801178 0.00006
NM_000540.3(RYR1):c.9758T>C (p.Ile3253Thr) rs375626634 0.00006
NM_001005242.3(PKP2):c.1093A>G (p.Met365Val) rs143900944 0.00006
NM_001009944.3(PKD1):c.6878C>T (p.Pro2293Leu) rs530832015 0.00006
NM_001042492.3(NF1):c.8395G>A (p.Val2799Ile) rs377393842 0.00006
NM_001105247.2(ARMC5):c.1039C>T (p.Pro347Ser) rs79238971 0.00006
NM_002907.4(RECQL):c.395-7C>T rs760078101 0.00006
NM_003242.6(TGFBR2):c.985G>A (p.Ala329Thr) rs148665451 0.00006
NM_004004.6(GJB2):c.493C>T (p.Arg165Trp) rs376898963 0.00006
NM_006005.3(WFS1):c.28C>T (p.Pro10Ser) rs760256649 0.00006
NM_007294.4(BRCA1):c.1392C>T (p.Thr464=) rs533802049 0.00006
NM_007294.4(BRCA1):c.3739G>A (p.Val1247Ile) rs80357191 0.00006
NM_013447.4(ADGRE2):c.137G>A (p.Arg46His) rs142343910 0.00006
NM_013447.4(ADGRE2):c.138C>A (p.Arg46=) rs202128202 0.00006
NM_013447.4(ADGRE2):c.2174G>A (p.Arg725Gln) rs374432034 0.00006
NM_013447.4(ADGRE2):c.697G>A (p.Val233Met) rs377729863 0.00006
NM_020647.4(JPH1):c.638G>C (p.Arg213Pro) rs201314759 0.00006
NM_024675.4(PALB2):c.1001A>G (p.Tyr334Cys) rs200620434 0.00006
NM_033343.4(LHX4):c.1165C>A (p.Pro389Thr) rs145433128 0.00006
NM_058216.3(RAD51C):c.870T>A (p.Ile290=) rs376402418 0.00006
NM_000051.4(ATM):c.3403-14_3403-13del rs1565441205 0.00005
NM_000059.4(BRCA2):c.9275A>G (p.Tyr3092Cys) rs80359195 0.00005
NM_000136.3(FANCC):c.1329+306C>T rs185023012 0.00005
NM_000245.4(MET):c.789G>A (p.Thr263=) rs554190225 0.00005
NM_000249.4(MLH1):c.1392T>C (p.Pro464=) rs63750201 0.00005
NM_000249.4(MLH1):c.438A>G (p.Gln146=) rs377279035 0.00005
NM_000350.3(ABCA4):c.1294G>A (p.Glu432Lys) rs201117452 0.00005
NM_000492.4(CFTR):c.3469-20T>C rs373002889 0.00005
NM_001048174.2(MUTYH):c.630C>T (p.Asn210=) rs767327888 0.00005
NM_001330360.2(POLA1):c.169-10A>G rs998607228 0.00005
NM_001382430.1(AKT1):c.570C>T (p.Asp190=) rs780207480 0.00005
NM_004700.4(KCNQ4):c.648C>T (p.Arg216=) rs80358269 0.00005
NM_007294.4(BRCA1):c.301+55G>A rs868735744 0.00005
NM_013447.4(ADGRE2):c.715C>T (p.Arg239Cys) rs750767967 0.00005
NM_013447.4(ADGRE2):c.745G>A (p.Gly249Arg) rs770915022 0.00005
NM_015046.7(SETX):c.4225A>T (p.Asn1409Tyr) rs373375060 0.00005
NM_020975.6(RET):c.3188-9C>T rs551159582 0.00005
NM_000038.6(APC):c.7786T>G (p.Ser2596Ala) rs138137162 0.00004
NM_000051.4(ATM):c.3154-5C>T rs55719759 0.00004
NM_000059.4(BRCA2):c.1181A>C (p.Glu394Ala) rs56016241 0.00004
NM_000059.4(BRCA2):c.4570T>G (p.Phe1524Val) rs56386506 0.00004
NM_000059.4(BRCA2):c.7522G>A (p.Gly2508Ser) rs80358978 0.00004
NM_000059.4(BRCA2):c.8702G>A (p.Gly2901Asp) rs80359129 0.00004
NM_000122.2(ERCC3):c.1828-35C>T rs1444307407 0.00004
NM_000179.3(MSH6):c.107C>T (p.Ala36Val) rs61756469 0.00004
NM_000256.3(MYBPC3):c.82G>A (p.Val28Met) rs776834755 0.00004
NM_000358.3(TGFBI):c.367G>C (p.Asp123His) rs541270955 0.00004
NM_000447.3(PSEN2):c.505C>A (p.His169Asn) rs533813519 0.00004
NM_000546.6(TP53):c.1096T>G (p.Ser366Ala) rs17881470 0.00004
NM_000546.6(TP53):c.28G>A (p.Val10Ile) rs535274413 0.00004
NM_000548.5(TSC2):c.292C>T (p.Arg98Trp) rs372321790 0.00004
NM_001012338.3(NTRK3):c.278C>T (p.Thr93Met) rs147992979 0.00004
NM_001044385.3(TMEM237):c.1024A>G (p.Asn342Asp) rs372686071 0.00004
NM_001134407.3(GRIN2A):c.547T>A (p.Phe183Ile) rs587780353 0.00004
NM_001165963.4(SCN1A):c.4556C>T (p.Pro1519Leu) rs372425457 0.00004
NM_003244.4(TGIF1):c.451A>G (p.Thr151Ala) rs121909068 0.00004
NM_004211.5(SLC6A5):c.2114A>G (p.Tyr705Cys) rs143918578 0.00004
NM_004360.5(CDH1):c.2494G>A (p.Val832Met) rs35572355 0.00004
NM_004655.4(AXIN2):c.2083G>T (p.Ala695Ser) rs140510381 0.00004
NM_005228.5(EGFR):c.2710G>A (p.Val904Ile) rs538497054 0.00004
NM_005429.5(VEGFC):c.172G>A (p.Glu58Lys) rs200219952 0.00004
NM_007144.3(PCGF2):c.265+8C>T rs767116828 0.00004
NM_007294.4(BRCA1):c.1511G>A (p.Arg504His) rs56272539 0.00004
NM_007294.4(BRCA1):c.2286A>T (p.Arg762Ser) rs273898682 0.00004
NM_007294.4(BRCA1):c.4261C>T (p.His1421Tyr) rs80357013 0.00004
NM_007294.4(BRCA1):c.5252G>A (p.Arg1751Gln) rs80357442 0.00004
NM_020975.6(RET):c.1118C>T (p.Ala373Val) rs546866208 0.00004
NM_181336.4(LEMD2):c.335C>T (p.Ala112Val) rs149584596 0.00004
NM_000038.6(APC):c.5912C>G (p.Ser1971Cys) rs754691867 0.00003
NM_000038.6(APC):c.8383G>A (p.Ala2795Thr) rs369264968 0.00003
NM_000059.4(BRCA2):c.1564G>C (p.Gly522Arg) rs80358442 0.00003
NM_000059.4(BRCA2):c.1744A>C (p.Thr582Pro) rs80358457 0.00003
NM_000059.4(BRCA2):c.7565C>T (p.Ser2522Phe) rs80358985 0.00003
NM_000062.3(SERPING1):c.352A>G (p.Thr118Ala) rs200534715 0.00003
NM_000071.3(CBS):c.1316G>A (p.Arg439Gln) rs756467921 0.00003
NM_000103.4(CYP19A1):c.242A>G (p.Tyr81Cys) rs199845027 0.00003
NM_000314.8(PTEN):c.-799G>C rs587779992 0.00003
NM_001003800.2(BICD2):c.1079C>T (p.Ala360Val) rs587777884 0.00003
NM_001035.3(RYR2):c.7493C>T (p.Ala2498Val) rs374191985 0.00003
NM_001134363.3(RBM20):c.1603G>A (p.Val535Ile) rs183007628 0.00003
NM_001165963.4(SCN1A):c.4723C>T (p.Arg1575Cys) rs121918807 0.00003
NM_001308093.3(GATA4):c.1276G>A (p.Asp426Asn) rs56208331 0.00003
NM_001375524.1(TRRAP):c.511C>T (p.Arg171Cys) rs200157211 0.00003
NM_001845.6(COL4A1):c.1055C>T (p.Pro352Leu) rs200786329 0.00003
NM_004360.5(CDH1):c.304G>A (p.Ala102Thr) rs368492235 0.00003
NM_004360.5(CDH1):c.499G>A (p.Glu167Lys) rs769076258 0.00003
NM_004360.5(CDH1):c.671G>A (p.Arg224His) rs201511530 0.00003
NM_007078.3(LDB3):c.1672A>G (p.Ile558Val) rs372331627 0.00003
NM_007294.4(BRCA1):c.811G>A (p.Val271Met) rs80357244 0.00003
NM_013447.4(ADGRE2):c.1876C>T (p.Leu626Phe) rs145425662 0.00003
NM_013447.4(ADGRE2):c.73G>A (p.Asp25Asn) rs748886583 0.00003
NM_020975.6(RET):c.539G>A (p.Arg180Gln) rs370736139 0.00003
NM_024422.6(DSC2):c.1018A>G (p.Thr340Ala) rs368299411 0.00003
NM_032119.4(ADGRV1):c.16377G>T (p.Gln5459His) rs371947306 0.00003
NM_138959.3(VANGL1):c.518G>A (p.Arg173His) rs148341022 0.00003
NM_206933.4(USH2A):c.7451+3G>A rs397518030 0.00003
NM_000059.4(BRCA2):c.9986A>G (p.Asn3329Ser) rs76635144 0.00002
NM_000218.3(KCNQ1):c.1726G>A (p.Val576Ile) rs750409379 0.00002
NM_000245.4(MET):c.3054C>T (p.Asn1018=) rs369148519 0.00002
NM_000256.3(MYBPC3):c.2003G>A (p.Arg668His) rs727503191 0.00002
NM_000321.3(RB1):c.1128-43C>T rs955333850 0.00002
NM_000518.5(HBB):c.262A>C (p.Thr88Pro) rs35553496 0.00002
NM_000546.6(TP53):c.665C>T (p.Pro222Leu) rs146340390 0.00002
NM_001060.6(TBXA2R):c.179G>T (p.Arg60Leu) rs34377097 0.00002
NM_001142800.2(EYS):c.1999C>T (p.Arg667Cys) rs765763663 0.00002
NM_001366432.2(PPP4R3A):c.1145C>T (p.Thr382Ile) rs776093984 0.00002
NM_001388419.1(KALRN):c.7174A>G (p.Ser2392Gly) rs992438028 0.00002
NM_002769.5(PRSS1):c.292C>A (p.Gln98Lys) rs750348889 0.00002
NM_002890.3(RASA1):c.2288A>T (p.Glu763Val) rs373098580 0.00002
NM_004360.5(CDH1):c.1118C>T (p.Pro373Leu) rs587782359 0.00002
NM_004360.5(CDH1):c.269G>A (p.Arg90Gln) rs587782647 0.00002
NM_007294.4(BRCA1):c.2006T>C (p.Met669Thr) rs80356895 0.00002
NM_007294.4(BRCA1):c.3657G>C (p.Glu1219Asp) rs80356876 0.00002
NM_007294.4(BRCA1):c.5531T>G (p.Leu1844Arg) rs80357323 0.00002
NM_007294.4(BRCA1):c.824G>A (p.Gly275Asp) rs397509327 0.00002
NM_013447.4(ADGRE2):c.1454G>A (p.Trp485Ter) rs1227458117 0.00002
NM_013447.4(ADGRE2):c.1541G>T (p.Cys514Phe) rs1054685455 0.00002
NM_020975.6(RET):c.1941C>T (p.Ile647=) rs75225191 0.00002
NM_024408.4(NOTCH2):c.137A>G (p.Asn46Ser) rs61788900 0.00002
NM_033380.3(COL4A5):c.2107A>G (p.Ile703Val) rs104886155 0.00002
NM_000038.6(APC):c.3910A>G (p.Ile1304Val) rs770157475 0.00001
NM_000051.4(ATM):c.6681C>T (p.Arg2227=) rs775850434 0.00001
NM_000057.4(BLM):c.302G>C (p.Arg101Thr) rs781707344 0.00001
NM_000059.4(BRCA2):c.10150C>T (p.Arg3384Ter) rs397507568 0.00001
NM_000059.4(BRCA2):c.1441A>G (p.Ile481Val) rs760559435 0.00001
NM_000059.4(BRCA2):c.2755G>A (p.Glu919Lys) rs431825298 0.00001
NM_000059.4(BRCA2):c.2771A>T (p.Asn924Ile) rs80358530 0.00001
NM_000059.4(BRCA2):c.2946A>G (p.Ile982Met) rs80358541 0.00001
NM_000059.4(BRCA2):c.6953G>A (p.Arg2318Gln) rs80358921 0.00001
NM_000059.4(BRCA2):c.7618-19G>T rs371417084 0.00001
NM_000059.4(BRCA2):c.7992T>A (p.Ile2664=) rs80359800 0.00001
NM_000059.4(BRCA2):c.8764A>G (p.Ser2922Gly) rs80359132 0.00001
NM_000059.4(BRCA2):c.9645T>A (p.Leu3215=) rs755111487 0.00001
NM_000133.4(F9):c.109G>A (p.Ala37Thr) rs367569299 0.00001
NM_000138.5(FBN1):c.3571G>A (p.Asp1191Asn) rs370121450 0.00001
NM_000179.3(MSH6):c.1403G>A (p.Arg468His) rs41295268 0.00001
NM_000179.3(MSH6):c.161G>C (p.Gly54Ala) rs63751098 0.00001
NM_000179.3(MSH6):c.2400T>C (p.Val800=) rs267608071 0.00001
NM_000179.3(MSH6):c.3936T>C (p.Val1312=) rs61753796 0.00001
NM_000184.3(HBG2):c.62T>C (p.Val21Ala) rs63751196 0.00001
NM_000203.5(IDUA):c.245A>C (p.His82Pro) rs794727239 0.00001
NM_000249.4(MLH1):c.845C>G (p.Ala282Gly) rs63750360 0.00001
NM_000251.3(MSH2):c.459C>T (p.Ser153=) rs63751065 0.00001
NM_000260.4(MYO7A):c.4360G>A (p.Val1454Ile) rs397516309 0.00001
NM_000261.2(MYOC):c.473G>A (p.Arg158Gln) rs199746824 0.00001
NM_000284.4(PDHA1):c.292-27T>G rs1389638523 0.00001
NM_000330.4(RS1):c.185-3176C>T rs747799506 0.00001
NM_000492.4(CFTR):c.3771T>G (p.Phe1257Leu) rs397508607 0.00001
NM_000518.4(HBB):c.410G>A (p.Gly137Asp) rs33949486 0.00001
NM_000518.4(HBB):c.68A>C (p.Glu23Ala) rs33936254 0.00001
NM_000546.6(TP53):c.1025G>A (p.Arg342Gln) rs375338359 0.00001
NM_000546.6(TP53):c.245C>T (p.Pro82Leu) rs534447939 0.00001
NM_000553.6(WRN):c.58A>G (p.Asn20Asp) rs1233624462 0.00001
NM_001005498.4(RHBDF2):c.1116-7T>C rs920432024 0.00001
NM_001040142.2(SCN2A):c.982T>G (p.Phe328Val) rs781204054 0.00001
NM_001048174.2(MUTYH):c.914-50C>T rs1644954335 0.00001
NM_001079866.2(BCS1L):c.142A>G (p.Met48Val) rs755305281 0.00001
NM_001165963.4(SCN1A):c.4855A>G (p.Met1619Val) rs373967247 0.00001
NM_001205293.3(CACNA1E):c.1883+9C>G rs1488129029 0.00001
NM_001291088.2(WDR87):c.3402A>T (p.Lys1134Asn) rs2046193783 0.00001
NM_001291088.2(WDR87):c.5282A>T (p.Glu1761Val) rs917453243 0.00001
NM_001291088.2(WDR87):c.7999A>G (p.Thr2667Ala) rs1244315984 0.00001
NM_001323289.2(CDKL5):c.1767C>T (p.His589=) rs267608645 0.00001
NM_001329630.2(PLEKHA7):c.2129A>G (p.Asp710Gly) rs952337506 0.00001
NM_001346810.2(DLGAP2):c.511G>A (p.Asp171Asn) rs770007555 0.00001
NM_001369268.1(ACAN):c.5221G>C (p.Gly1741Arg) rs748666817 0.00001
NM_001374828.1(ARID1B):c.1319G>C (p.Gly440Ala) rs1332073619 0.00001
NM_001394372.1(BICRA):c.1707G>C (p.Gln569His) rs1002065322 0.00001
NM_001394531.1(WDFY4):c.1642C>A (p.Leu548Met) rs1440445524 0.00001
NM_002354.3(EPCAM):c.76+21G>C rs762123721 0.00001
NM_002472.3(MYH8):c.3619G>A (p.Gly1207Arg) rs571189404 0.00001
NM_004284.6(CHD1L):c.1551A>G (p.Ile517Met) rs376783101 0.00001
NM_004370.6(COL12A1):c.1216G>A (p.Ala406Thr) rs377285294 0.00001
NM_005228.5(EGFR):c.1570G>A (p.Val524Ile) rs587778249 0.00001
NM_005378.6(MYCN):c.614T>C (p.Val205Ala) rs1469113412 0.00001
NM_005429.5(VEGFC):c.1156C>T (p.Arg386Trp) rs370465436 0.00001
NM_005429.5(VEGFC):c.571C>G (p.Pro191Ala) rs774139549 0.00001
NM_005921.2(MAP3K1):c.770C>T (p.Pro257Leu) rs56160159 0.00001
NM_006231.4(POLE):c.1359+4C>T rs752118019 0.00001
NM_006231.4(POLE):c.3582+7G>A rs558837073 0.00001
NM_006303.4(AIMP2):c.31G>C (p.Gly11Arg) rs1786347539 0.00001
NM_007294.4(BRCA1):c.1258G>T (p.Asp420Tyr) rs80357488 0.00001
NM_007294.4(BRCA1):c.1401G>A (p.Lys467=) rs786201323 0.00001
NM_007294.4(BRCA1):c.1797T>C (p.Asn599=) rs756211343 0.00001
NM_007294.4(BRCA1):c.2468G>T (p.Arg823Ile) rs876659731 0.00001
NM_007294.4(BRCA1):c.2597G>A (p.Arg866His) rs80356911 0.00001
NM_007294.4(BRCA1):c.3448C>T (p.Pro1150Ser) rs80357272 0.00001
NM_007294.4(BRCA1):c.3601G>A (p.Gly1201Ser) rs55725337 0.00001
NM_007294.4(BRCA1):c.4166G>A (p.Ser1389Asn) rs78951648 0.00001
NM_007294.4(BRCA1):c.4816A>G (p.Lys1606Glu) rs80356943 0.00001
NM_007294.4(BRCA1):c.4910C>T (p.Pro1637Leu) rs80357048 0.00001
NM_007294.4(BRCA1):c.5573T>C (p.Ile1858Thr) rs755427809 0.00001
NM_012199.5(AGO1):c.25+7G>A rs1458276516 0.00001
NM_013447.4(ADGRE2):c.1201G>A (p.Val401Met) rs764173202 0.00001
NM_013447.4(ADGRE2):c.1531A>G (p.Ile511Val) rs775421833 0.00001
NM_013447.4(ADGRE2):c.1805T>C (p.Ile602Thr) rs534741485 0.00001
NM_013447.4(ADGRE2):c.1849A>T (p.Met617Leu) rs781288814 0.00001
NM_013447.4(ADGRE2):c.199+49T>C rs866778179 0.00001
NM_013447.4(ADGRE2):c.2376G>A (p.Trp792Ter) rs751384950 0.00001
NM_013447.4(ADGRE2):c.248C>T (p.Ser83Leu) rs201617124 0.00001
NM_013447.4(ADGRE2):c.313G>A (p.Gly105Arg) rs990641943 0.00001
NM_013447.4(ADGRE2):c.440G>T (p.Cys147Phe) rs773115202 0.00001
NM_014991.6(WDFY3):c.3737A>G (p.Tyr1246Cys) rs751185435 0.00001
NM_015021.3(ZNF292):c.4892G>A (p.Arg1631Lys) rs1023278362 0.00001
NM_015021.3(ZNF292):c.7343T>G (p.Val2448Gly) rs1338632938 0.00001
NM_015103.3(PLXND1):c.4826-4C>G rs918204587 0.00001
NM_017649.5(CNNM2):c.595G>A (p.Ala199Thr) rs984170802 0.00001
NM_018489.3(ASH1L):c.7249G>A (p.Ala2417Thr) rs753396609 0.00001
NM_020634.3(GDF3):c.914T>C (p.Leu305Pro) rs387906945 0.00001
NM_020695.4(REXO1):c.586G>A (p.Gly196Ser) rs369158434 0.00001
NM_020975.6(RET):c.3332C>T (p.Thr1111Met) rs1003057639 0.00001
NM_020987.5(ANK3):c.8174G>A (p.Gly2725Asp) rs993289778 0.00001
NM_022788.5(P2RY12):c.364C>T (p.Arg122Cys) rs557043245 0.00001
NM_023110.3(FGFR1):c.358+4G>A rs369853854 0.00001
NM_024426.6(WT1):c.661+8G>A rs1313565005 0.00001
NM_024675.4(PALB2):c.2258G>A (p.Arg753Gln) rs587778586 0.00001
NM_032119.4(ADGRV1):c.13255A>G (p.Met4419Val) rs1373626737 0.00001
NM_032656.4(DHX37):c.3045C>G (p.Asp1015Glu) rs888734993 0.00001
NM_032776.3(JMJD1C):c.556C>T (p.Pro186Ser) rs1241903352 0.00001
NM_170606.3(KMT2C):c.10759C>G (p.Gln3587Glu) rs567451018 0.00001
NC_000002.12:g.47387047CTT[2] rs151274680
NC_000002.12:g.47387064C>T rs796191687
NC_000002.12:g.47387076_47387080dup rs565249366
NC_000002.12:g.47387079_47387080dup rs565249366
NC_000002.12:g.47387080dup rs565249366
NC_000004.12:g.1394562_1394563insCCCATGTGGAGTGCCCGCCTGCTCACACA rs1553889375
NC_000004.12:g.1394589_1394590insCACATGCCCATGTGGAGTGCCCGCCTGCTCA rs750778284
NC_000004.12:g.1394590_1394591insACATGCCCATGTGGAGTGCCCGCCTGCTCAT rs1720475916
NC_000004.12:g.1394590_1394680del rs1720475955
NC_000010.11:g.3166389_3166390insAGAGAGGAATGGCACGCTAGGGAAG
NC_012920.1:m.11467A>G rs2853493
NC_012920.1:m.12372G>A rs2853499
NC_012920.1:m.14753C>T rs527236162
NC_012920.1:m.14784T>C rs527236163
NC_012920.1:m.14800C>T rs527236164
NC_012920.1:m.14935T>C rs527236204
NC_012920.1:m.14950C>T rs527236166
NC_012920.1:m.14968T>C rs527236167
NC_012920.1:m.15049C>T rs527236170
NC_012920.1:m.15058C>T rs527236171
NC_012920.1:m.15214T>C rs527236173
NC_012920.1:m.15259C>T rs527236207
NC_012920.1:m.15328A>G rs527236178
NC_012920.1:m.15334C>T rs527236179
NC_012920.1:m.15349C>T rs527236201
NC_012920.1:m.15363A>G rs527236182
NC_012920.1:m.15637C>T rs527236190
NC_012920.1:m.15649A>G rs527236191
NC_012920.1:m.15682A>G rs527236192
NM_000033.4(ABCD1):c.1489-6del rs398123101
NM_000033.4(ABCD1):c.1816T>C (p.Ser606Pro) rs201774661
NM_000033.4(ABCD1):c.1823G>A (p.Gly608Asp) rs78993751
NM_000037.4(ANK1):c.*36+989dup rs59908561
NM_000038.6(APC):c.3462AGA[2] (p.Glu1157del) rs386833391
NM_000038.6(APC):c.370G>A (p.Val124Ile) rs779945112
NM_000038.6(APC):c.423-4dup rs730881230
NM_000038.6(APC):c.5723A>G (p.Asn1908Ser) rs1064795748
NM_000038.6(APC):c.807C>T (p.Ile269=) rs1000878850
NM_000044.6(AR):c.171GCA[24] (p.Gln80dup) rs3032358
NM_000047.3(ARSL):c.-14GA[6] rs200332753
NM_000051.4(ATM):c.1236-10_1236-3dup rs34325032
NM_000051.4(ATM):c.1236-3del rs34325032
NM_000051.4(ATM):c.2922-8del rs373881770
NM_000051.4(ATM):c.3403-13A>T rs1591636037
NM_000051.4(ATM):c.3403-9C>T rs375483605
NM_000051.4(ATM):c.3577-30C>T rs751436997
NM_000051.4(ATM):c.4612-11A>T rs1217349031
NM_000051.4(ATM):c.4612-12A>T rs1326401118
NM_000051.4(ATM):c.4612-13A>T rs1267116629
NM_000051.4(ATM):c.4612-19C>T rs1336477936
NM_000051.4(ATM):c.6007-27C>T rs1164649351
NM_000051.4(ATM):c.6007-30C>T rs1425802573
NM_000051.4(ATM):c.6007-33C>T rs1191788183
NM_000051.4(ATM):c.6007-34C>T rs1591775892
NM_000051.4(ATM):c.6347+31del rs58978479
NM_000051.4(ATM):c.6573-23G>T rs1591127987
NM_000051.4(ATM):c.6573-26C>A rs1591127920
NM_000051.4(ATM):c.6573-31G>T rs1274213878
NM_000051.4(ATM):c.6573-31_6573-30del rs1216821271
NM_000051.4(ATM):c.6573-34C>T rs767824695
NM_000051.4(ATM):c.6573-37_6573-36insTTTTTT rs1591127671
NM_000051.4(ATM):c.6573-41_6573-40del rs758339884
NM_000051.4(ATM):c.6573-41del rs1271045298
NM_000051.4(ATM):c.6573-42_6573-41del rs1347499229
NM_000051.4(ATM):c.6998C>T (p.Thr2333Ile) rs150503164
NM_000051.4(ATM):c.7630-29G>T rs1591170490
NM_000051.4(ATM):c.7630-37G>T rs1591170392
NM_000051.4(ATM):c.7789-15G>T rs781449587
NM_000053.4(ATP7B):c.3548C>G (p.Ala1183Gly) rs587783315
NM_000057.4(BLM):c.1087+47T>C rs1299860709
NM_000057.4(BLM):c.1317G>T (p.Met439Ile) rs1450277471
NM_000057.4(BLM):c.1469C>G (p.Pro490Arg) rs878853553
NM_000059.4(BRCA2):c.1045A>G (p.Lys349Glu) rs2072403180
NM_000059.4(BRCA2):c.122C>T (p.Pro41Leu) rs786201716
NM_000059.4(BRCA2):c.1730C>T (p.Ala577Val) rs876661280
NM_000059.4(BRCA2):c.1909+22del rs276174816
NM_000059.4(BRCA2):c.1909+22dup rs276174816
NM_000059.4(BRCA2):c.2803G>C (p.Asp935His) rs28897716
NM_000059.4(BRCA2):c.5352C>A (p.Asn1784Lys) rs1555284187
NM_000059.4(BRCA2):c.5733T>G (p.Asp1911Glu) rs367823201
NM_000059.4(BRCA2):c.5744C>A (p.Thr1915Lys) rs4987117
NM_000059.4(BRCA2):c.6271A>G (p.Ser2091Gly) rs398122550
NM_000059.4(BRCA2):c.6362A>G (p.Glu2121Gly) rs397507846
NM_000059.4(BRCA2):c.7015A>G (p.Lys2339Glu) rs2072676209
NM_000059.4(BRCA2):c.7618-21G>T rs376957350
NM_000059.4(BRCA2):c.7731A>T (p.Lys2577Asn) rs2137567171
NM_000059.4(BRCA2):c.7985C>T (p.Thr2662Met) rs431825362
NM_000059.4(BRCA2):c.8755-32G>T rs1180743142
NM_000059.4(BRCA2):c.8755-35A>T rs1250232214
NM_000059.4(BRCA2):c.8755-36G>T rs1194612269
NM_000059.4(BRCA2):c.8755-38C>T rs1489731992
NM_000059.4(BRCA2):c.8755-41G>T rs1293323703
NM_000059.4(BRCA2):c.8854A>G (p.Met2952Val) rs397508016
NM_000059.4(BRCA2):c.9043A>G (p.Lys3015Glu) rs587781497
NM_000059.4(BRCA2):c.9116C>T (p.Pro3039Leu) rs80359167
NM_000077.5(CDKN2A):c.170C>T (p.Ala57Val) rs372266620
NM_000081.4(LYST):c.7229+50CTTTT[7] rs71174459
NM_000090.4(COL3A1):c.1663-94_1663-93insCACACACA rs200204993
NM_000122.2(ERCC3):c.1828-32A>T rs773954881
NM_000124.4(ERCC6):c.3284C>G (p.Pro1095Arg) rs4253208
NM_000135.4(FANCA):c.710-142_710-141dup rs17232344
NM_000136.3(FANCC):c.816C>G (p.Ile272Met) rs55719336
NM_000138.5(FBN1):c.4583-8G>C rs910464222
NM_000140.5(FECH):c.163G>T (p.Gly55Cys) rs3848519
NM_000143.4(FH):c.1237-50TC[20] rs144131869
NM_000155.4(GALT):c.1060-84_1060-71dup rs56121779
NM_000168.6(GLI3):c.367+49TG[20] rs34148485
NM_000179.3(MSH6):c.2062G>A (p.Val688Ile) rs1201347192
NM_000179.3(MSH6):c.4001+27TAAC[3] rs267608136
NM_000179.3(MSH6):c.4001+50_4001+51dup rs199687113
NM_000179.3(MSH6):c.4002-10dup rs59056100
NM_000179.3(MSH6):c.4002-12_4002-10dup rs59056100
NM_000179.3(MSH6):c.4002-26_4002-25insCTTT rs1553333916
NM_000179.3(MSH6):c.4068_4071dup (p.Lys1358delinsAspTer) rs55740729
NM_000183.3(HADHB):c.5_7dup (p.Thr2dup) rs3839049
NM_000199.5(SGSH):c.1159G>A (p.Val387Met) rs62620232
NM_000208.4(INSR):c.4133G>A (p.Arg1378Gln) rs52826008
NM_000209.4(PDX1):c.670G>A (p.Glu224Lys) rs137852787
NM_000209.4(PDX1):c.714GCC[6] (p.Pro244_Gly245insPro) rs193922357
NM_000238.4(KCNH2):c.326T>G (p.Leu109Arg) rs199473498
NM_000243.3(MEFV):c.586G>T (p.Gly196Trp) rs104895179
NM_000245.4(MET):c.1701+58dup rs112241458
NM_000245.4(MET):c.1701+59G>T rs759007523
NM_000245.4(MET):c.2584-9del rs57349036
NM_000249.3(MLH1):c.-107C>G rs587778886
NM_000249.4(MLH1):c.1039-31_1039-26del rs1178900468
NM_000249.4(MLH1):c.1853A>C (p.Lys618Thr) rs63750449
NM_000249.4(MLH1):c.1989+11_1989+12del rs2125991370
NM_000251.3(MSH2):c.2005+59_2005+61dup rs76761634
NM_000251.3(MSH2):c.2276G>A (p.Gly759Glu) rs386833406
NM_000251.3(MSH2):c.2575G>A (p.Glu859Lys) rs63749830
NM_000251.3(MSH2):c.2714C>G (p.Thr905Arg) rs267608022
NM_000251.3(MSH2):c.273TCT[2] (p.Leu94del) rs267607919
NM_000251.3(MSH2):c.593A>G (p.Glu198Gly) rs63750327
NM_000251.3(MSH2):c.67T>C (p.Phe23Leu) rs372619120
NM_000251.3(MSH2):c.942+10_942+29dup rs11309117
NM_000251.3(MSH2):c.942+11_942+29dup rs11309117
NM_000251.3(MSH2):c.942+12_942+29dup rs11309117
NM_000251.3(MSH2):c.942+13_942+29dup rs11309117
NM_000251.3(MSH2):c.942+14_942+29dup rs11309117
NM_000251.3(MSH2):c.942+15_942+29dup rs11309117
NM_000251.3(MSH2):c.942+16_942+29dup rs11309117
NM_000251.3(MSH2):c.942+17_942+29dup rs11309117
NM_000251.3(MSH2):c.942+18_942+29dup rs11309117
NM_000251.3(MSH2):c.942+19_942+29dup rs11309117
NM_000251.3(MSH2):c.942+20_942+29dup rs11309117
NM_000251.3(MSH2):c.942+21_942+29dup rs11309117
NM_000251.3(MSH2):c.942+22_942+29del rs11309117
NM_000251.3(MSH2):c.942+22_942+29dup rs11309117
NM_000251.3(MSH2):c.942+23_942+29del rs11309117
NM_000251.3(MSH2):c.942+23_942+29dup rs11309117
NM_000251.3(MSH2):c.942+24_942+29del rs11309117
NM_000251.3(MSH2):c.942+24_942+29dup rs11309117
NM_000251.3(MSH2):c.942+25_942+29dup rs11309117
NM_000251.3(MSH2):c.942+26_942+29del rs11309117
NM_000251.3(MSH2):c.942+26_942+29dup rs11309117
NM_000251.3(MSH2):c.942+27_942+29del rs11309117
NM_000251.3(MSH2):c.942+27_942+29dup rs11309117
NM_000251.3(MSH2):c.942+28_942+29dup rs11309117
NM_000251.3(MSH2):c.942+29del rs11309117
NM_000251.3(MSH2):c.942+29dup rs11309117
NM_000251.3(MSH2):c.942+7_942+29dup rs11309117
NM_000251.3(MSH2):c.942+8_942+29dup rs11309117
NM_000251.3(MSH2):c.942+9_942+29dup rs11309117
NM_000254.3(MTR):c.*16del rs67705775
NM_000260.4(MYO7A):c.2617C>T (p.Arg873Trp) rs200454015
NM_000260.4(MYO7A):c.3503+12_3503+33del rs111033223
NM_000260.4(MYO7A):c.5227C>T (p.Arg1743Trp) rs111033287
NM_000260.4(MYO7A):c.5860C>A (p.Leu1954Ile) rs948962
NM_000264.5(PTCH1):c.1016A>G (p.Glu339Gly) rs777696239
NM_000267.3(NF1):c.730+32dup rs71142032
NM_000276.4(OCRL):c.40-80dup rs369736288
NM_000277.3(PAH):c.500A>G (p.Asn167Ser) rs77554925
NM_000295.4(SERPINA1):c.1093G>A (p.Asp365Asn) rs143370956
NM_000297.4(PKD2):c.290AGG[7] (p.Glu102dup) rs750077647
NM_000313.4(PROS1):c.119G>T (p.Arg40Leu) rs7614835
NM_000314.8(PTEN):c.254-23C>T rs1396031556
NM_000314.8(PTEN):c.254-26A>T rs757177445
NM_000314.8(PTEN):c.254-29C>T rs753720712
NM_000314.8(PTEN):c.577C>T (p.Leu193=) rs772631069
NM_000314.8(PTEN):c.802-3dup rs34003473
NM_000314.8(PTEN):c.802-5_802-3del rs34003473
NM_000321.3(RB1):c.1128-45C>T rs1285629437
NM_000321.3(RB1):c.2212-13_2212-12insTTTTTTTT rs1593539077
NM_000321.3(RB1):c.2212-16dup rs553094345
NM_000321.3(RB1):c.2212-17_2212-16del rs553094345
NM_000321.3(RB1):c.2212-17_2212-16dup rs553094345
NM_000321.3(RB1):c.2212-18_2212-16del rs553094345
NM_000321.3(RB1):c.2212-18_2212-16dup rs553094345
NM_000321.3(RB1):c.2212-29_2212-16dup rs553094345
NM_000321.3(RB1):c.2212-37_2212-16dup rs553094345
NM_000321.3(RB1):c.2212-9C>A rs765386327
NM_000335.5(SCN5A):c.373G>C (p.Val125Leu) rs199473059
NM_000337.6(SGCD):c.226G>T (p.Gly76Cys) rs376659221
NM_000337.6(SGCD):c.699+13_699+15del rs397517924
NM_000346.4(SOX9):c.1061_1069del (p.Pro354_Pro356del) rs761585795
NM_000363.5(TNNI3):c.12-7del rs370714315
NM_000368.5(TSC1):c.1333+9T>A rs747629498
NM_000369.5(TSHR):c.1429A>C (p.Thr477Pro) rs1595178231
NM_000370.3(TTPA):c.359-3del rs398123340
NM_000379.4(XDH):c.2969+66dup rs11408029
NM_000383.4(AIRE):c.1095+78del rs5844181
NM_000384.3(APOB):c.1853C>T (p.Ala618Val)
NM_000384.3(APOB):c.8216C>T (p.Pro2739Leu)
NM_000384.3(APOB):c.9835A>G (p.Ser3279Gly)
NM_000399.5(EGR2):c.1352G>T (p.Gly451Val) rs138967272
NM_000455.5(STK11):c.*16+6G>A rs2145436787
NM_000455.5(STK11):c.*17-6C>G rs866505758
NM_000455.5(STK11):c.-107dup rs927999961
NM_000455.5(STK11):c.465-4G>A rs587780009
NM_000459.5(TEK):c.2228G>C (p.Gly743Ala) rs202131936
NM_000465.4(BARD1):c.*119G>A rs1378645134
NM_000465.4(BARD1):c.*122_*123del rs1310441861
NM_000465.4(BARD1):c.*136_*138dup rs113789798
NM_000465.4(BARD1):c.*137_*138dup rs113789798
NM_000465.4(BARD1):c.*138del rs113789798
NM_000465.4(BARD1):c.216-13_216-12del rs1491038786
NM_000492.3(CFTR):c.1210-12T[9] rs1805177
NM_000493.4(COL10A1):c.*6_*7insCCC rs140722
NM_000500.9(CYP21A2):c.1439G>T (p.Arg480Leu) rs184649564
NM_000508.5(FGA):c.2587del (p.Leu863_Val864insTer) rs773678959
NM_000518.4(HBB):c.157G>A (p.Asp53Asn) rs33961886
NM_000522.5(HOXA13):c.381CGC[5] (p.Ala133del) rs955237055
NM_000527.5(LDLR):c.2441G>A (p.Arg814Gln)
NM_000527.5(LDLR):c.806G>A (p.Gly269Asp)
NM_000527.5(LDLR):c.970G>A (p.Gly324Ser)
NM_000535.7(PMS2):c.706-4del rs60794673
NM_000540.3(RYR1):c.13513G>C (p.Asp4505His) rs150396398
NM_000545.8(HNF1A):c.-124G>C rs563304627
NM_000546.6(TP53):c.145G>C (p.Asp49His) rs587780728
NM_000546.6(TP53):c.256G>A (p.Ala86Thr) rs587782148
NM_000546.6(TP53):c.560-9T>G rs794727781
NM_000546.6(TP53):c.997C>T (p.Arg333Cys) rs769934890
NM_000551.4(VHL):c.154G>A (p.Glu52Lys) rs373068386
NM_000552.5(VWF):c.5053+82C>T rs75717362
NM_000553.6(WRN):c.839+25del rs370040831
NM_000718.4(CACNA1B):c.2986_3000del (p.Thr996_Glu1000del) rs145816559
NM_000718.4(CACNA1B):c.501C>G (p.Asn167Lys) rs4422842
NM_000719.7(CACNA1C):c.2542GAG[2] (p.Glu850del) rs575583988
NM_000751.3(CHRND):c.199-90_199-89insAAGA rs113930536
NM_000937.5(POLR2A):c.5511_5512= (p.Pro1837_Lys1838=) rs1490940612
NM_000939.4(POMC):c.394C>G (p.Pro132Ala) rs8192606
NM_001003800.2(BICD2):c.1993G>T (p.Val665Leu) rs587777885
NM_001005242.3(PKP2):c.2299C>A (p.Arg767Ser) rs139734328
NM_001018115.3(FANCD2):c.1135-25G>A rs201770712
NM_001018115.3(FANCD2):c.1137G>T (p.Val379=) rs72492997
NM_001018115.3(FANCD2):c.1179T>C (p.Thr393=) rs72492998
NM_001018115.3(FANCD2):c.2494+95C>A rs1575797993
NM_001018115.3(FANCD2):c.2494+97T>A rs1575797996
NM_001018115.3(FANCD2):c.2494+98C>A rs1575798002
NM_001018115.3(FANCD2):c.3777+83_3777+86del rs773716319
NM_001023570.4(IQCB1):c.1410+74AT[4] rs1553709033
NM_001023570.4(IQCB1):c.1410+81GT[17] rs57816005
NM_001029883.3(PCARE):c.3673_3675dupAGC
NM_001031710.3(KLHL7):c.936+3731_936+3735del rs141774430
NM_001039141.3(TRIOBP):c.1193_1195del (p.Gln398del) rs55745992
NM_001040142.2(SCN2A):c.3040A>T (p.Ile1014Phe) rs2105336961
NM_001042492.3(NF1):c.3198-4dup rs371047262
NM_001042492.3(NF1):c.3974+23A>T rs376217184
NM_001042492.3(NF1):c.4578-12dup rs1597748630
NM_001042517.2(DIAPH3):c.1840C>A (p.Pro614Thr) rs200018583
NM_001042545.2(LTBP4):c.3035dup (p.Tyr1013fs) rs59030801
NM_001042646.3(TRAK1):c.1963+101GGA[12] rs10634555
NM_001048174.2(MUTYH):c.606+21C>A rs148552450
NM_001048174.2(MUTYH):c.704+16A>G rs747251904
NM_001079668.3(NKX2-1):c.464-2A>T rs587776708
NM_001079843.3(CASZ1):c.2816+8G>A rs1184543145
NM_001080.3(ALDH5A1):c.1014+60TG[6] rs199737070
NM_001089.3(ABCA3):c.1502C>A (p.Ala501Glu) rs141621969
NM_001098484.3(SLC4A4):c.1904-74_1904-73del rs747897537
NM_001099271.2(POC5):c.1336G>A (p.Ala446Thr) rs34678567
NM_001109878.2(TBX22):c.-2-7C>G rs185298778
NM_001110792.2(MECP2):c.62+5503del rs372915987
NM_001111125.3(IQSEC2):c.1553T>C (p.Leu518Pro) rs987032967
NM_001126049.2(KLLN):c.80G>C (p.Arg27Pro) rs899815496
NM_001127222.2(CACNA1A):c.2720A>G (p.Glu907Gly) rs2144955398
NM_001127255.2(NLRP7):c.1137G>C (p.Lys379Asn) rs10418277
NM_001128164.2(ATXN1):c.772G>T (p.Gly258Cys) rs144962740
NM_001130987.2(DYSF):c.460+2T>G rs750356247
NM_001134771.2(SLC12A5):c.121+1091_121+1111del rs879435751
NM_001134771.2(SLC12A5):c.121+1092_121+1093insGAGG rs1600581884
NM_001134771.2(SLC12A5):c.121+1106_121+1132del rs912238609
NM_001135998.3(NDUFB11):c.416C>T (p.Ser139Phe) rs2147049461
NM_001148.6(ANK2):c.2806C>G (p.Leu936Val) rs786205725
NM_001161352.2(KCNMA1):c.179C>T (p.Ser60Leu) rs768769748
NM_001162498.3(LPAR6):c.341_344del (p.Arg114fs) rs1198561901
NM_001162498.3(LPAR6):c.347del (p.Leu116fs) rs1404056158
NM_001162498.3(LPAR6):c.350_352del (p.Ala117_Ile118delinsVal) rs1200570253
NM_001162498.3(LPAR6):c.354T>G (p.Ile118Met) rs1458608158
NM_001162498.3(LPAR6):c.358T>G (p.Tyr120Asp) rs1344531248
NM_001162498.3(LPAR6):c.359del (p.Tyr120fs) rs1275629547
NM_001162498.3(LPAR6):c.361_362insGTAT (p.Pro121fs) rs1236830240
NM_001162498.3(LPAR6):c.366T>A (p.Phe122Leu) rs977436301
NM_001164277.2(SLC37A4):c.527= (p.Cys176=) rs56966114
NM_001164508.2(NEB):c.17635-3dup rs3214503
NM_001173990.3(TMEM216):c.432-1G>C rs10897158
NM_001174150.2(ARL13B):c.486+22del rs368491848
NM_001174150.2(ARL13B):c.486+22dup rs368491848
NM_001182.5(ALDH7A1):c.246+7GT[16] rs142510783
NM_001182.5(ALDH7A1):c.914-118dup rs759132307
NM_001184.4(ATR):c.1885+65ATTT[8] rs56661838
NM_001191061.2(SLC25A22):c.-164+135dup rs1312807369
NM_001211.6(BUB1B):c.385-2460_385-2453dup rs979967281
NM_001244008.2(KIF1A):c.2721GGA[9] (p.Glu916_Glu917del) rs10594016
NM_001256071.3(RNF213):c.12942+97del rs142169239
NM_001270.4(CHD1):c.2983A>G (p.Ile995Val) rs2112391566
NM_001270974.2(HYDIN):c.13900-73A>G rs1770438
NM_001273.5(CHD4):c.4610C>T (p.Ser1537Phe) rs2136202008
NM_001276345.2(TNNT2):c.53-11_53-7del rs45533739
NM_001278064.2(GRM1):c.950+8TC[21] rs72225459
NM_001278116.2(L1CAM):c.-109+234del rs199975679
NM_001278116.2(L1CAM):c.-109+238_-109+239insGG rs143464562
NM_001287344.2(BTK):c.27G>A (p.Met9Ile) rs1352616578
NM_001289125.3(IFNAR2):c.541-50A>G
NM_001291088.2(WDR87):c.6889GAGGAGGAGGAGGAAAGG[1] (p.2285EEEEER[3]) rs763153590
NM_001301202.2(RASAL1):c.982C>T (p.Arg328Trp) rs35505918
NM_001303052.2(MYT1L):c.1-10C>G rs2149492098
NM_001308093.3(GATA4):c.1000+103G>T rs113049875
NM_001347721.2(DYRK1A):c.955C>A (p.Arg319=) rs113004433
NM_001351132.2(PEX5):c.1561-44_1561-43insTCTGAGTCGGTGGAGTAATGTGCAGAGTTTGA rs141721291
NM_001351132.2(PEX5):c.551+113_551+114dup rs5796268
NM_001365536.1(SCN9A):c.1975-3dup rs35888674
NM_001367721.1(CASK):c.2569A>G (p.Ile857Val) rs2147067640
NM_001370259.2(MEN1):c.655-6C>A rs77461664
NM_001370259.2(MEN1):c.655-6C>G rs77461664
NM_001371623.1(TCOF1):c.4087AAG[4] (p.Lys1367del) rs773205979
NM_001371986.1(UNC80):c.1936C>T (p.His646Tyr) rs1467598370
NM_001372078.1(REV3L):c.35A>G (p.Tyr12Cys) rs1174220169
NM_001374828.1(ARID1B):c.5652C>G (p.Ser1884Arg) rs1195428885
NM_001374828.1(ARID1B):c.591GCA[9] (p.Gln213_Gln214dup) rs587779743
NM_001375380.1(EBF3):c.1373-11del rs68001511
NM_001375765.1(GIGYF1):c.407G>A (p.Arg136Lys) rs886069639
NM_001378120.1(MBD5):c.2127T>A (p.Ser709Arg) rs763873615
NM_001378120.1(MBD5):c.644G>A (p.Arg215His) rs771325235
NM_001378414.1(HDAC4):c.95-98del rs74761897
NM_001378418.1(TCF20):c.2213G>C (p.Gly738Ala) rs2147212800
NM_001378418.1(TCF20):c.2990G>T (p.Gly997Val) rs1921043988
NM_001378418.1(TCF20):c.326G>A (p.Arg109Gln) rs1921560491
NM_001378452.1(ITPR1):c.4407+44GT[18] rs35795762
NM_001378454.1(ALMS1):c.1433-64dup rs66492706
NM_001378454.1(ALMS1):c.1571CTC[1] (p.Pro525del) rs34628045
NM_001379110.1(SLC9A6):c.1080+80dup rs35492327
NM_001379500.1(COL18A1):c.2157+79dup rs148502711
NM_001379500.1(COL18A1):c.2829CCCAGGCCC[1] (p.938PGP[3]) rs78227997
NM_001382347.1(MYO5A):c.1543-84del rs71425744
NM_001382430.1(AKT1):c.1364-3C>T rs113777945
NM_001388419.1(KALRN):c.1624G>A (p.Val542Ile) rs1056310843
NM_001394062.1(MACF1):c.20222A>T (p.Asp6741Val) rs2148674816
NM_001394372.1(BICRA):c.4367C>T (p.Ala1456Val) rs963884506
NM_001394531.1(WDFY4):c.3098+4T>G rs2066052443
NM_001395058.1(MYO15B):c.8156+19C>G
NM_001429.4(EP300):c.5633C>A (p.Thr1878Asn) rs1484157418
NM_001429.4(EP300):c.5832C>G (p.His1944Gln) rs142885571
NM_001556.3(IKBKB):c.2023A>G (p.Ser675Gly) rs1386860765
NM_001715.3(BLK):c.391C>T (p.Arg131Trp) rs73663163
NM_001843.4(CNTN1):c.1805-9354del rs544761896
NM_001844.5(COL2A1):c.1649G>T (p.Arg550Leu) rs186233557
NM_001844.5(COL2A1):c.2679+69dup rs11443755
NM_001849.4(COL6A2):c.1817-3dup rs149954350
NM_001875.5(CPS1):c.3666+77dup rs61108700
NM_001903.5(CTNNA1):c.1063-8T>G rs1581473850
NM_001903.5(CTNNA1):c.1389+10A>T rs1051113761
NM_001927.4(DES):c.897+4_897+5del rs397516699
NM_001953.4(TYMP):c.929-6_929-3del rs201685922
NM_001957.4(EDNRA):c.1259G>C (p.Ser420Thr) rs200945454
NM_001999.4(FBN2):c.4118T>C (p.Ile1373Thr) rs971727405
NM_002087.4(GRN):c.350-50_350-47dup rs34424835
NM_002168.4(IDH2):c.1179-3T>A rs772170724
NM_002203.4(ITGA2):c.2236-62T>C rs2287871
NM_002249.6(KCNN3):c.200AGC[10] (p.Gln77_Gln80del) rs3831942
NM_002249.6(KCNN3):c.200AGC[11] (p.Gln78_Gln80del) rs3831942
NM_002249.6(KCNN3):c.200AGC[12] (p.Gln79_Gln80del) rs3831942
NM_002249.6(KCNN3):c.200AGC[13] (p.Gln80del) rs3831942
NM_002249.6(KCNN3):c.200AGC[15] (p.Gln80dup) rs3831942
NM_002249.6(KCNN3):c.200AGC[16] (p.Gln79_Gln80dup) rs3831942
NM_002249.6(KCNN3):c.200AGC[17] (p.Gln78_Gln80dup) rs3831942
NM_002249.6(KCNN3):c.200AGC[18] (p.Gln77_Gln80dup) rs3831942
NM_002249.6(KCNN3):c.200AGC[19] (p.Gln76_Gln80dup) rs3831942
NM_002249.6(KCNN3):c.200AGC[20] (p.Gln75_Gln80dup) rs3831942
NM_002249.6(KCNN3):c.200AGC[21] (p.Gln74_Gln80dup) rs3831942
NM_002249.6(KCNN3):c.200AGC[22] (p.Gln73_Gln80dup) rs3831942
NM_002249.6(KCNN3):c.200AGC[23] (p.Gln72_Gln80dup) rs3831942
NM_002249.6(KCNN3):c.200AGC[24] (p.Gln71_Gln80dup) rs3831942
NM_002249.6(KCNN3):c.200AGC[5] (p.Gln72_Gln80del) rs3831942
NM_002249.6(KCNN3):c.200AGC[7] (p.Gln74_Gln80del) rs3831942
NM_002249.6(KCNN3):c.200AGC[8] (p.Gln75_Gln80del) rs3831942
NM_002249.6(KCNN3):c.200AGC[9] (p.Gln76_Gln80del) rs3831942
NM_002249.6(KCNN3):c.241_242insAGCACCAGCAGC (p.Gln80_Pro81insGlnHisGlnGln) rs1553242200
NM_002249.6(KCNN3):c.241_242insAGCAGCAGCAGCCAC (p.Gln80_Pro81insGlnGlnGlnGlnPro) rs1553242199
NM_002272.4(KRT4):c.259_260insCCGGCGGCTTCGGAGCTGGTTTCGGCACTGGTGGCTTTGGTG (p.Gly86_Gly87insAlaGlyGlyPheGlyAlaGlyPheGlyThrGlyGlyPheGly) rs11267392
NM_002332.3(LRP1):c.300C>T (p.Asp100=) rs1799986
NM_002354.3(EPCAM):c.345G>C (p.Met115Ile) rs115212523
NM_002421.4(MMP1):c.105+115del rs5794198
NM_002470.4(MYH3):c.349-94dup rs370073463
NM_002470.4(MYH3):c.4957-115CAAAA[3] rs137999435
NM_002485.5(NBN):c.179C>A (p.Thr60Lys) rs1586109164
NM_002485.5(NBN):c.585-10A>G rs2129840066
NM_002500.5(NEUROD1):c.723C>G (p.His241Gln) rs561017686
NM_002691.4(POLD1):c.19C>T (p.Pro7Ser) rs2122193847
NM_002691.4(POLD1):c.3316G>A (p.Ala1106Thr) rs778990190
NM_002769.5(PRSS1):c.161A>G (p.Asn54Ser) rs144422014
NM_002769.5(PRSS1):c.200+1G>A rs143909348
NM_002880.4(RAF1):c.834+8G>A rs727504615
NM_002907.4(RECQL):c.1856A>T (p.Asn619Ile) rs2137305371
NM_002907.4(RECQL):c.395-5T>C rs2137388604
NM_002907.4(RECQL):c.501+15C>T rs373601640
NM_002979.5(SCP2):c.70-47del rs143386725
NM_003000.3(SDHB):c.73-21G>T rs1311107626
NM_003068.5(SNAI2):c.364G>A (p.Ala122Thr) rs907510990
NM_003070.5(SMARCA2):c.669GCA[11] (p.Gln237_Gln238del) rs113070757
NM_003242.6(TGFBR2):c.1159G>A (p.Val387Met) rs35766612
NM_003289.4(TPM2):c.773-3dup rs35401252
NM_003392.7(WNT5A):c.332G>A (p.Arg111Gln) rs2106945475
NM_003482.4(KMT2D):c.6058C>T (p.Pro2020Ser) rs939099741
NM_003512.4(H2AC6):c.392G>T (p.Ter131Leu) rs1484017288
NM_003560.4(PLA2G6):c.798-22A>T rs372731031
NM_003690.5(PRKRA):c.22_23del (p.Ala8fs) rs141354030
NM_003722.5(TP63):c.324+7G>A rs930341004
NM_004004.6(GJB2):c.412A>G (p.Ser138Gly) rs397516876
NM_004006.3(DMD):c.9564-536A>C rs918777788
NM_004064.5(CDKN1B):c.476-5C>G rs370509436
NM_004171.4(SLC1A2):c.1092-6T>C rs2134719255
NM_004316.4(ASCL1):c.151CAG[10] (p.Gln61_Gln62del) rs3832799
NM_004333.6(BRAF):c.2128-28dup rs60814637
NM_004360.5(CDH1):c.820G>A (p.Gly274Ser) rs781513008
NM_004484.4(GPC3):c.338-5del rs370737647
NM_004519.4(KCNQ3):c.1720C>T (p.Pro574Ser) rs74582884
NM_004523.4(KIF11):c.1435G>C (p.Glu479Gln) rs547554309
NM_004577.4(PSPH):c.81A>T (p.Arg27Ser) rs74445297
NM_004715.5(CTDP1):c.2418-207_2418-165dup rs147933855
NM_004795.4(KL):c.2702-59dup rs34137141
NM_004836.7(EIF2AK3):c.40CTG[7] (p.Leu21del) rs1805190
NM_004946.3(DOCK2):c.169-72G>C rs2306564
NM_004960.4(FUS):c.518_523del
NM_004970.3(IGFALS):c.958C>T (p.Gln320Ter) rs768231769
NM_004975.4(KCNB1):c.2396G>A (p.Ser799Asn) rs1256695300
NM_004994.3(MMP9):c.1721G>C (p.Arg574Pro) rs2250889
NM_005006.7(NDUFS1):c.154-126TAGA[8] rs3217140
NM_005006.7(NDUFS1):c.154-126TAGA[9] rs3217140
NM_005120.3(MED12):c.4416-77CTCTT[14] rs56658066
NM_005188.4(CBL):c.1485G>C (p.Pro495=) rs2229072
NM_005199.5(CHRNG):c.921-68del rs10714586
NM_005210.4(CRYGB):c.10-38del rs3214759
NM_005245.4(FAT1):c.3770G>A (p.Arg1257Gln) rs188188069
NM_005392.4(PHF2):c.325C>T (p.Pro109Ser) rs1188481995
NM_005429.5(VEGFC):c.1123A>C (p.Lys375Gln) rs2110962728
NM_005429.5(VEGFC):c.572C>G (p.Pro191Arg) rs770761859
NM_005429.5(VEGFC):c.629G>A (p.Arg210Gln) rs377096543
NM_005429.5(VEGFC):c.79GCC[6] (p.Ala31dup) rs754628535
NM_005429.5(VEGFC):c.974C>T (p.Pro325Leu) rs768802006
NM_005448.2(BMP15):c.13A>C (p.Ser5Arg) rs113099187
NM_005475.3(SH2B3):c.112G>A (p.Ala38Thr) rs2135547121
NM_005523.6(HOXA11):c.489G>C (p.Lys163Asn) rs893792932
NM_005525.4(HSD11B1):c.331+53dup rs45487298
NM_005559.4(LAMA1):c.2274+70dup rs113133818
NM_005850.5(SF3B4):c.1060dup (p.Arg354fs) rs782357237
NM_005921.2(MAP3K1):c.5CGG[5] (p.Ala5dup) rs779149827
NM_005994.4(TBX2):c.1160C>T (p.Pro387Leu) rs1603241604
NM_006015.6(ARID1A):c.4538G>A (p.Ser1513Asn) rs2124120299
NM_006015.6(ARID1A):c.4927C>A (p.Pro1643Thr) rs1454897845
NM_006015.6(ARID1A):c.5438C>T (p.Pro1813Leu) rs1373371414
NM_006073.4(TRDN):c.1313T>G (p.Ile438Ser) rs2873479
NM_006079.5(CITED2):c.574_579del (p.Ser192_Gly193del) rs751501072
NM_006563.5(KLF1):c.13G>A (p.Glu5Lys) rs483352842
NM_006563.5(KLF1):c.519_525dup (p.Gly176fs) rs483352838
NM_006563.5(KLF1):c.809C>G (p.Ser270Trp) rs558942739
NM_006662.3(SRCAP):c.4543C>A (p.Leu1515Met) rs1246765240
NM_006721.4(ADK):c.727-8del rs112610475
NM_006766.5(KAT6A):c.2501A>C (p.Lys834Thr) rs2150861823
NM_006767.4(LZTR1):c.26G>C (p.Gly9Ala) rs756485244
NM_006885.4(ZFHX3):c.10142_10165del (p.Arg3381_Gln3388del) rs727502780
NM_006885.4(ZFHX3):c.6329T>C (p.Leu2110Ser) rs1220435409
NM_006885.4(ZFHX3):c.8450C>G (p.Ser2817Cys) rs2035818390
NM_007055.4(POLR3A):c.1745G>A (p.Arg582His) rs34588967
NM_007129.5(ZIC2):c.1365AGCGGCGGCGGC[1] (p.Ala467_Ala470del) rs755522720
NM_007146.3(VEZF1):c.1046_1047insGCAACAACA (p.Gln352_Gln354dup) rs914850486
NM_007255.3(B4GALT7):c.413+60C>G rs28499092
NM_007294.4(BRCA1):c.-20+152A>G rs1412775379
NM_007294.4(BRCA1):c.1106_1108del (p.Asp369del) rs80358325
NM_007294.4(BRCA1):c.1912G>A (p.Glu638Lys) rs80357005
NM_007294.4(BRCA1):c.2612C>T (p.Pro871Leu) rs799917
NM_007294.4(BRCA1):c.2798G>C (p.Gly933Ala) rs80356941
NM_007294.4(BRCA1):c.441+36_441+49del rs373413425
NM_007294.4(BRCA1):c.5095C>A (p.Arg1699=) rs55770810
NM_007294.4(BRCA1):c.5152+80del rs902919427
NM_007294.4(BRCA1):c.577A>G (p.Lys193Glu) rs878854962
NM_007294.4(BRCA1):c.652T>G (p.Leu218Val) rs765950064
NM_007294.4(BRCA1):c.81-14C>T rs80358006
NM_007294.4(BRCA1):c.823G>A (p.Gly275Ser) rs8176153
NM_007325.5(GRIA3):c.268+16762dup rs11452643
NM_012200.4(B3GAT3):c.909+263C>G rs12794886
NM_012203.2(GRHPR):c.83+52del rs35891798
NM_013275.6(ANKRD11):c.7061C>A (p.Pro2354His) rs749176560
NM_013436.5(NCKAP1):c.948-6A>C rs2105858704
NM_013447.4(ADGRE2):c.1230G>A (p.Met410Ile) rs1005458732
NM_013447.4(ADGRE2):c.1629del (p.Gly543_Leu544insTer) rs747459594
NM_013447.4(ADGRE2):c.1780G>T (p.Gly594Ter) rs148074899
NM_013447.4(ADGRE2):c.1805_1806insGATGCTGTGCTCCATCAT (p.Ile601_Ile602insMetMetLeuCysSerIle) rs2147228178
NM_013447.4(ADGRE2):c.1820del (p.His607fs) rs2147227822
NM_013447.4(ADGRE2):c.208G>A (p.Glu70Lys) rs1010286043
NM_013447.4(ADGRE2):c.2092_2093insCG (p.Val698fs) rs781071720
NM_013447.4(ADGRE2):c.2094_2095insCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC (p.Asn699delinsLeuGlyLeuGlnAlaTer) rs757195659
NM_013447.4(ADGRE2):c.2095_2096insGCCACCGCGCCCGGCCA (p.Asn699fs) rs751299935
NM_013447.4(ADGRE2):c.2138G>T (p.Arg713Ile) rs200295887
NM_013447.4(ADGRE2):c.2184-17_2184-3del rs2147142509
NM_013447.4(ADGRE2):c.2235G>A (p.Trp745Ter) rs2147141875
NM_013447.4(ADGRE2):c.437A>C (p.Gln146Pro) rs776396018
NM_013447.4(ADGRE2):c.498A>C (p.Glu166Asp) rs2147439161
NM_013447.4(ADGRE2):c.524A>C (p.His175Pro) rs191200474
NM_013447.4(ADGRE2):c.52_53del (p.Leu18fs) rs751894825
NM_013447.4(ADGRE2):c.5G>A (p.Gly2Glu) rs757681429
NM_013447.4(ADGRE2):c.731G>C (p.Trp244Ser) rs1209239626
NM_014000.3(VCL):c.2862_2864del (p.Leu955del) rs397517237
NM_014049.5(ACAD9):c.808+63GT[14] rs63473460
NM_014053.4(FLVCR1):c.1413+82TTG[6] rs41300975
NM_014141.6(CNTNAP2):c.2773+76del rs5888307
NM_014244.5(ADAMTS2):c.47TGC[9] (p.Leu23dup) rs568040559
NM_014423.4(AFF4):c.2485G>C (p.Gly829Arg) rs763295786
NM_014822.4(SEC24D):c.483T>G (p.Pro161=) rs2389688
NM_014889.4(PITRM1):c.267-12_267-11insTCACCTTCCCTAGCGTGCCATTGC rs572476455
NM_014991.6(WDFY3):c.6086C>T (p.Ser2029Phe) rs2149233741
NM_014991.6(WDFY3):c.9726+6T>C rs1282480242
NM_015001.3(SPEN):c.478G>A (p.Asp160Asn) rs2148712038
NM_015021.3(ZNF292):c.7498G>A (p.Val2500Ile) rs915267492
NM_015021.3(ZNF292):c.8026G>A (p.Asp2676Asn)
NM_015335.5(MED13L):c.3913C>T (p.His1305Tyr) rs1231044656
NM_015346.4(ZFYVE26):c.4370G>A (p.Cys1457Tyr) rs2235967
NM_015474.4(SAMHD1):c.626-64_626-63del rs529639777
NM_015559.3(SETBP1):c.4598C>T (p.Pro1533Leu) rs2073923280
NM_016373.4(WWOX):c.535G>A (p.Ala179Thr) rs11545029
NM_016579.4(CD320):c.256GAG[2] (p.Glu88del) rs150384171
NM_017514.5(PLXNA3):c.2589G>C (p.Glu863Asp) rs5945430
NM_017780.4(CHD7):c.1472T>A (p.Ile491Asn) rs1383452692
NM_017780.4(CHD7):c.2053_2058dup (p.Ala685_Lys686dup) rs377139749
NM_018122.5(DARS2):c.127+94ATT[10] rs55949406
NM_018392.5(ZGRF1):c.142C>A (p.Leu48Met) rs61745597
NM_018418.4(SPATA7):c.20_23del rs527236050
NM_018418.5(SPATA7):c.19+102del rs5810413
NM_018451.5(CENPJ):c.61A>G (p.Met21Val) rs35498994
NM_018896.5(CACNA1G):c.2979+15A>G rs1403007762
NM_018896.5(CACNA1G):c.354+5GT[13] rs3833150
NM_018896.5(CACNA1G):c.5742C>A (p.His1914Gln) rs200604758
NM_019109.5(ALG1):c.208+16_208+19dup rs35400794
NM_020166.5(MCCC1):c.273+53A>C rs3732604
NM_020223.4(FAM20C):c.953_956+30dup rs771282640
NM_020297.4(ABCC9):c.4450-5del rs4148680
NM_020431.4(TMEM63C):c.343A>G (p.Thr115Ala) rs995111248
NM_020549.5(CHAT):c.1381G>A (p.Val461Met) rs4838544
NM_020759.3(STARD9):c.6300G>C (p.Arg2100Ser) rs1043312563
NM_020822.3(KCNT1):c.2009-3C>T rs2131520063
NM_020822.3(KCNT1):c.600+71dup rs879903723
NM_020859.4(SHROOM3):c.179G>T (p.Gly60Val) rs144435434
NM_020928.2(ZSWIM6):c.57CGG[5] (p.Gly26del) rs565100893
NM_020937.4(FANCM):c.2582T>G (p.Ile861Arg) rs901858017
NM_020975.6(RET):c.1468C>G (p.Gln490Glu) rs1588871393
NM_020975.6(RET):c.2765C>A (p.Ser922Tyr) rs377767432
NM_020975.6(RET):c.74-50G>T rs766786245
NM_020975.6(RET):c.742G>A (p.Gly248Ser) rs1837733775
NM_020987.5(ANK3):c.1690-15dup rs34796699
NM_021008.4(DEAF1):c.54_86del (p.Val19_Ala29del) rs982923800
NM_021076.4(NEFH):c.2232_2249del (p.746_751SPEKAK[1]) rs59890097
NM_021625.5(TRPV4):c.549G>C (p.Glu183Asp) rs141908793
NM_021961.6(TEAD1):c.331-907AT[4] rs10543484
NM_021969.3(NR0B2):c.157_166del (p.His53fs) rs540387719
NM_022455.5(NSD1):c.1237-90del rs11322143
NM_022455.5(NSD1):c.4378+15_4378+16del rs2149894868
NM_022455.5(NSD1):c.4966+96dup rs373383515
NM_022455.5(NSD1):c.6341C>G (p.Thr2114Arg) rs914580476
NM_024408.4(NOTCH2):c.57C>G (p.Cys19Trp) rs11810554
NM_024422.6(DSC2):c.2365GGA[1] (p.Gly790del) rs377272752
NM_024426.6(WT1):c.156G>T (p.Glu52Asp) rs1565002339
NM_024426.6(WT1):c.784+6C>T rs1455790542
NM_024503.5(HIVEP3):c.5000C>T (p.Ala1667Val) rs2149103292
NM_024675.4(PALB2):c.2448C>G (p.Phe816Leu) rs876659879
NM_024675.4(PALB2):c.2514+10A>G rs1032636199
NM_024675.4(PALB2):c.3351-48del rs140806991
NM_024757.5(EHMT1):c.82G>C (p.Glu28Gln) rs1342402816
NM_025000.4(DCAF17):c.732+70dup rs58636477
NM_025074.7(FRAS1):c.11445+68_11445+69del rs3062747
NM_025243.4(SLC19A3):c.980-4del rs11334205
NM_030665.4(RAI1):c.4958C>T (p.Pro1653Leu) rs931068297
NM_030787.4(CFHR5):c.486dup (p.Glu163fs) rs565457964
NM_030928.4(CDT1):c.248C>T (p.Pro83Leu) rs139038990
NM_032119.4(ADGRV1):c.5830G>A (p.Asp1944Asn) rs41302834
NM_032545.4(CFC1):c.433G>A (p.Ala145Thr) rs199715380
NM_032776.3(JMJD1C):c.7168C>G (p.Leu2390Val) rs767321856
NM_032856.5(WDR73):c.926ATGGAACACGGAGCCAAG[1] (p.309DGTRSQ[1]) rs11267906
NM_033343.4(LHX4):c.724_726del (p.Lys242del) rs771109452
NM_033380.3(COL4A5):c.2999G>T (p.Gly1000Val) rs281874709
NM_052867.4(NALCN):c.3955-50CT[11] rs34229756
NM_052876.4(NACC1):c.979G>C (p.Ala327Pro) rs759246551
NM_058172.6(ANTXR2):c.1069G>C (p.Ala357Pro) rs12647691
NM_080425.4(GNAS):c.2069-6389CGGCG[3] rs143800311
NM_130797.4(DPP6):c.421T>C (p.Phe141Leu) rs571883604
NM_133181.4(EPS8L3):c.409G>C (p.Glu137Gln) rs1157241634
NM_138459.5(NUS1):c.541+10A>C rs1051471000
NM_139058.3(ARX):c.306GGC[11] (p.Ala115dup) rs387906492
NM_144599.5(NIPA1):c.24GGC[7] (p.Ala16del) rs531550505
NM_145166.4(ZBTB47):c.407C>T (p.Pro136Leu) rs1710670079
NM_152296.5(ATP1A3):c.1549G>C (p.Glu517Gln) rs782583311
NM_152419.3(HGSNAT):c.710C>A (p.Pro237Gln) rs727503962
NM_153240.5(NPHP3):c.394-89AT[7] rs10590809
NM_153252.5(BRWD3):c.3865-119TA[9] rs3029738
NM_153460.4(IL17RC):c.622+115ATTC[5] rs34198416
NM_170606.3(KMT2C):c.4507+5A>G rs2129129571
NM_170606.3(KMT2C):c.8431T>C (p.Ser2811Pro) rs896573950
NM_172107.4(KCNQ2):c.1118+1G>A rs397507449
NM_172107.4(KCNQ2):c.1632-1G>T rs118192233
NM_173630.4(RTTN):c.725_727dup (p.Gly242dup) rs58913700
NM_174936.4(PCSK9):c.45GCT[10] (p.Leu21_Leu23dup) rs35574083
NM_177924.5(ASAH1):c.216+46TATTT[3] rs35875004
NM_178857.6(RP1L1):c.3971A>G (p.Glu1324Gly) rs4240659
NM_181882.3(PRX):c.4059GGA[6] (p.Glu1361del) rs139624657
NM_182641.4(BPTF):c.581T>G (p.Phe194Cys) rs1292339242
NM_182914.3(SYNE2):c.4768G>T (p.Val1590Phe) rs1018808319
NM_182931.3(KMT2E):c.3339A>C (p.Arg1113Ser) rs938243662
NM_183065.4(TMEM107):c.*622G>A rs201266955
NM_183065.4(TMEM107):c.*751C>T rs117595965
NM_183065.4(TMEM107):c.*760G>T rs116395281
NM_183357.3(ADCY5):c.2498A>G (p.Asn833Ser) rs2108270287
NM_198253.3(TERT):c.1317GGA[2] (p.Glu441del) rs377639087
NM_198689.3(KRTAP10-7):c.185A>G (p.Tyr62Cys) rs4818725
NM_198691.3(KRTAP10-1):c.475G>T (p.Asp159Tyr)
NM_198691.3(KRTAP10-1):c.477T>A (p.Asp159Glu)
NM_198880.3(QRICH1):c.646G>A (p.Val216Met) rs76308243
NM_198994.3(TGM6):c.1967+59AG[2] rs60388755
NM_206862.4(TACC2):c.3317C>G (p.Ser1106Trp) rs753194129
NM_206933.4(USH2A):c.10246T>G (p.Cys3416Gly) rs527236140
NM_207371.4(SKIDA1):c.2012G>T (p.Cys671Phe) rs1026025706
NM_213599.3(ANO5):c.*113del rs5790246
NM_213599.3(ANO5):c.-161_-156AGG[3]GGAATGAGGAGGAGGAGGAGG[1] rs71034576
NM_213599.3(ANO5):c.2646C>G (p.Asn882Lys) rs34969327
NM_213720.3(CHCHD10):c.312C>T (p.Tyr104=) rs9153
m.1442G>A rs28358573
m.15572T>C rs207459996
m.8009G>A rs199474826

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