ClinVar Miner

List of variants reported by Mendelics

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ClinVar version:
Total variants: 12748
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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_001278116.2(L1CAM):c.-109+95_-109+96insGCCG rs58566947 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_000518.5(HBB):c.315+16G>C rs10768683 0.82893
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_021133.4(RNASEL):c.1385G>A (p.Arg462Gln) rs486907 0.28062
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_005957.5(MTHFR):c.665C>T (p.Ala222Val) rs1801133 0.27446
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_000017.4(ACADS):c.625G>A (p.Gly209Ser) rs1799958 0.20617
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_000487.6(ARSA):c.1055A>G (p.Asn352Ser) rs2071421 0.19530
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_000372.5(TYR):c.1205G>A (p.Arg402Gln) rs1126809 0.18094
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_000030.3(AGXT):c.1020A>G (p.Ile340Met) rs4426527 0.15412
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_001002294.3(FMO3):c.923A>G (p.Glu308Gly) rs2266780 0.14140
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_003690.5(PRKRA):c.677T>A (p.Ile226Asn) rs77419724 0.13676
NM_002024.6(FMR1):c.357A>C (p.Lys119Asn) rs201580891 0.13140
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_000255.4(MMUT):c.1495G>A (p.Ala499Thr) rs2229385 0.10476
NM_000251.2(MSH2):c.-118T>C rs2303425 0.10354
NM_004183.4(BEST1):c.219C>A (p.Ile73=) rs1109748 0.10271
NM_000410.4(HFE):c.187C>G (p.His63Asp) rs1799945 0.10170
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_000402.4(G6PD):c.466A>G (p.Asn156Asp) rs1050829 0.08672
NM_000498.3(CYP11B2):c.1157T>C (p.Val386Ala) rs61757294 0.08654
NM_006206.6(PDGFRA):c.2323+1120C>T rs2291591 0.08547
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_030653.4(DDX11):c.1819G>C (p.Ala607Pro) rs74912343 0.07203
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_003661.4(APOL1):c.1024A>G (p.Ser342Gly) rs73885319 0.06773
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_001379500.1(COL18A1):c.3778G>A (p.Asp1260Asn) rs12483377 0.06693
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_000140.5(FECH):c.315-48T>C rs2272783 0.06200
NM_007144.3(PCGF2):c.210-8T>C rs72819704 0.06015
NM_001008212.2(OPTN):c.293T>A (p.Met98Lys) rs11258194 0.05969
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_000130.5(F5):c.3980A>G (p.His1327Arg) rs1800595 0.05074
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_000350.3(ABCA4):c.5603A>T (p.Asn1868Ile) rs1801466 0.04126
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_000410.4(HFE):c.845G>A (p.Cys282Tyr) rs1800562 0.03880
NM_002529.4(NTRK1):c.1810C>T (p.His604Tyr) rs6336 0.03696
NM_000402.4(G6PD):c.292G>A (p.Val98Met) rs1050828 0.03616
NM_002283.4(KRT85):c.233G>A (p.Arg78His) rs61630004 0.03613
NM_014675.5(CROCC):c.904C>G (p.Gln302Glu) rs143501240 0.03575
NM_033337.3(CAV3):c.166G>A (p.Gly56Ser) rs72546667 0.03558
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_002335.4(LRP5):c.1999G>A (p.Val667Met) rs4988321 0.03472
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_001370658.1(BTD):c.1270G>C (p.Asp424His) rs13078881 0.03225
NM_024649.5(BBS1):c.700G>A (p.Glu234Lys) rs35520756 0.03206
NM_000093.5(COL5A1):c.1588G>A (p.Gly530Ser) rs61735045 0.03116
NM_001127701.1(SERPINA1):c.863A>T (p.Glu288Val) rs17580 0.02950
NM_013339.4(ALG6):c.391T>C (p.Tyr131His) rs35383149 0.02935
NM_000350.3(ABCA4):c.3602T>G (p.Leu1201Arg) rs61750126 0.02895
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_000053.4(ATP7B):c.3620A>G (p.His1207Arg) rs7334118 0.02828
NM_000067.3(CA2):c.754A>G (p.Asn252Asp) rs2228063 0.02817
NM_014625.4(NPHS2):c.686G>A (p.Arg229Gln) rs61747728 0.02796
NM_001083116.3(PRF1):c.272C>T (p.Ala91Val) rs35947132 0.02791
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_001018115.3(FANCD2):c.1868A>C (p.Gln623Pro) rs36070315 0.02463
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_000096.4(CP):c.1652C>T (p.Thr551Ile) rs61733458 0.02154
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_016247.4(IMPG2):c.3439C>T (p.Pro1147Ser) rs111784356 0.02010
NM_000203.5(IDUA):c.1225G>C (p.Gly409Arg) rs11934801 0.01974
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_005105.5(RBM8A):c.-21G>A rs139428292 0.01871
NM_004937.3(CTNS):c.124G>A (p.Val42Ile) rs35086888 0.01867
NM_000453.3(SLC5A5):c.-54C>T rs112077649 0.01822
NM_000500.9(CYP21A2):c.*13G>A rs6447 0.01770
NM_000130.4(F5):c.1601G>A (p.Arg534Gln) rs6025 0.01762
NM_001256789.3(CACNA1F):c.1523G>A (p.Arg508Gln) rs34162630 0.01756
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_004252.5(NHERF1):c.328C>G (p.Leu110Val) rs35910969 0.01664
NM_001174096.2(ZEB1):c.233A>C (p.Asn78Thr) rs80194531 0.01629
NM_033409.4(SLC52A3):c.1048T>A (p.Leu350Met) rs76947760 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_178012.5(TUBB2B):c.553G>A (p.Ala185Thr) rs146544321 0.01565
NM_172351.3(CD46):c.1013C>T (p.Ala338Val) rs35366573 0.01505
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_000784.4(CYP27A1):c.1151C>T (p.Pro384Leu) rs41272687 0.01478
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_000492.4(CFTR):c.*1043A>C rs10234329 0.01452
NM_025216.3(WNT10A):c.682T>A (p.Phe228Ile) rs121908120 0.01450
NM_001021.6(RPS17):c.327+80G>A rs990557809 0.01433
NM_012186.3(FOXE3):c.146G>C (p.Gly49Ala) rs566961335 0.01396
NM_001029883.3(PCARE):c.1844T>A (p.Val615Asp) rs140776870 0.01391
NM_001082971.2(DDC):c.629C>T (p.Pro210Leu) rs6262 0.01372
NM_000064.4(C3):c.1407G>C (p.Glu469Asp) rs11569422 0.01362
NM_007294.4(BRCA1):c.4956G>A (p.Met1652Ile) rs1799967 0.01348
NM_001365536.1(SCN9A):c.2827A>C (p.Met943Leu) rs12478318 0.01339
NM_000237.3(LPL):c.953A>G (p.Asn318Ser) rs268 0.01327
NM_006950.3(SYN1):c.152C>G (p.Ala51Gly) rs187134574 0.01317
NM_003000.3(SDHB):c.8C>G (p.Ala3Gly) rs11203289 0.01309
NM_006883.2(SHOX):c.653G>A (p.Arg218His) rs193072890 0.01306
NM_000518.5(HBB):c.20A>T (p.Glu7Val) rs334 0.01298
NM_018392.5(ZGRF1):c.4087G>A (p.Glu1363Lys) rs76187047 0.01292
NM_024312.5(GNPTAB):c.1042A>C (p.Ile348Leu) rs7958709 0.01289
NM_001127701.1(SERPINA1):c.1096G>A (p.Glu366Lys) rs28929474 0.01282
NM_000077.5(CDKN2A):c.-25C>T rs144481587 0.01273
NM_033118.4(MYLK2):c.430C>G (p.Pro144Ala) rs34396614 0.01268
NM_025137.4(SPG11):c.7256A>G (p.Lys2419Arg) rs76116949 0.01253
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_001370658.1(BTD):c.820A>G (p.Ile274Val) rs35976361 0.01187
NM_000335.5(SCN5A):c.1571C>A (p.Ser524Tyr) rs41313691 0.01184
NM_002693.3(POLG):c.3643+48A>G rs2307454 0.01182
NM_000250.2(MPO):c.995C>T (p.Ala332Val) rs28730837 0.01176
NM_000249.4(MLH1):c.1039-8T>A rs193922367 0.01153
NM_000342.3(SLC4A1):c.118G>A (p.Glu40Lys) rs45562031 0.01150
NM_000359.3(TGM1):c.1552G>A (p.Val518Met) rs35312232 0.01146
NM_000044.6(AR):c.1886-60G>A rs146283342 0.01144
NM_000550.3(TYRP1):c.1557T>G (p.Tyr519Ter) rs41302073 0.01144
NM_016233.2(PADI3):c.856A>G (p.Thr286Ala) rs139426141 0.01139
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_004387.4(NKX2-5):c.73C>T (p.Arg25Cys) rs28936670 0.01082
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_000410.4(HFE):c.193A>T (p.Ser65Cys) rs1800730 0.01042
NM_153240.5(NPHP3):c.154G>A (p.Ala52Thr) rs145643112 0.01037
NM_005448.2(BMP15):c.538G>A (p.Ala180Thr) rs104894767 0.01035
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_000250.2(MPO):c.752T>C (p.Met251Thr) rs56378716 0.00999
NM_000500.9(CYP21A2):c.188A>T (p.His63Leu) rs9378252 0.00995
NM_017739.4(POMGNT1):c.1666G>A (p.Asp556Asn) rs74374973 0.00994
NM_000209.4(PDX1):c.716C>A (p.Pro239Gln) rs199644078 0.00993
NM_001360.3(DHCR7):c.99-4G>A rs140748737 0.00988
NM_000506.5(F2):c.*97G>A rs1799963 0.00979
NM_000479.5(AMH):c.974A>G (p.Gln325Arg) rs140765565 0.00966
NM_004004.6(GJB2):c.101T>C (p.Met34Thr) rs35887622 0.00966
NM_001033855.3(DCLRE1C):c.457G>A (p.Gly153Arg) rs41297018 0.00964
NM_000204.5(CFI):c.1534+5G>T rs114013791 0.00951
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_000171.4(GLRA1):c.1108G>A (p.Gly370Ser) rs116474260 0.00939
NM_201384.3(PLEC):c.887G>A (p.Arg296Gln) rs138924815 0.00931
NM_021939.4(FKBP10):c.917+53G>T rs141387386 0.00927
NM_022042.4(SLC26A1):c.*878G>A rs147498923 0.00924
NM_000249.4(MLH1):c.1732-19T>A rs77120160 0.00923
NM_213599.3(ANO5):c.616A>G (p.Thr206Ala) rs78266558 0.00922
NM_003000.3(SDHB):c.487T>C (p.Ser163Pro) rs33927012 0.00921
NM_000018.4(ACADVL):c.1600G>A (p.Glu534Lys) rs2230180 0.00920
NM_000426.4(LAMA2):c.7431A>T (p.Arg2477Ser) rs34367843 0.00914
NM_001710.6(CFB):c.1697A>C (p.Glu566Ala) rs45484591 0.00913
NM_000245.4(MET):c.2975C>T (p.Thr992Ile) rs56391007 0.00911
NM_024408.4(NOTCH2):c.272G>T (p.Arg91Leu) rs143195893 0.00899
UGT1A1*6 rs4148323 0.00891
NM_000391.4(TPP1):c.299A>G (p.Gln100Arg) rs1800746 0.00889
NM_000492.4(CFTR):c.1210-11T>G rs73715573 0.00886
NM_001174089.2(SLC4A11):c.2496G>A (p.Met832Ile) rs34224785 0.00886
NM_004369.4(COL6A3):c.6156+4C>T rs111228504 0.00884
NM_000211.5(ITGB2):c.329-6C>T rs9983887 0.00876
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_181776.3(SLC36A2):c.260G>T (p.Gly87Val) rs77010315 0.00869
NM_000142.5(FGFR3):c.1345C>T (p.Pro449Ser) rs61735104 0.00867
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_000535.7(PMS2):c.52A>G (p.Ile18Val) rs63750123 0.00861
NM_001142633.3(PIK3R5):c.1885C>T (p.Pro629Ser) rs61761068 0.00859
NM_000037.4(ANK1):c.5544+91C>T rs72638959 0.00849
NM_000211.5(ITGB2):c.1756C>T (p.Arg586Trp) rs5030672 0.00847
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_001379610.1(SPINK1):c.101A>G (p.Asn34Ser) rs17107315 0.00797
NM_004577.4(PSPH):c.650T>C (p.Val217Ala) rs73343752 0.00788
NM_002693.3(POLG):c.3561G>C (p.Arg1187=) rs62640037 0.00787
NM_002900.3(RBP3):c.1037G>A (p.Arg346His) rs111245635 0.00786
NM_001386298.1(CIC):c.7510T>C (p.Ser2504Pro) rs745695673 0.00775
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_052865.4(MGME1):c.794C>T (p.Thr265Ile) rs76599088 0.00768
NM_002485.5(NBN):c.37+5G>A rs116735828 0.00767
NM_000051.4(ATM):c.544G>C (p.Val182Leu) rs3218707 0.00757
NM_181332.3(NLGN4X):c.1777C>T (p.Leu593Phe) rs3747333 0.00756
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_001457.4(FLNB):c.6956T>C (p.Ile2319Thr) rs116826041 0.00739
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_000465.4(BARD1):c.1972C>T (p.Arg658Cys) rs3738888 0.00736
NM_000481.4(AMT):c.631G>A (p.Glu211Lys) rs116192290 0.00735
NM_001267550.2(TTN):c.14984C>G (p.Pro4995Arg) rs72648927 0.00729
NM_000030.3(AGXT):c.26C>A (p.Thr9Asn) rs115014558 0.00719
NM_000298.6(PKLR):c.1269+43T>C rs8177982 0.00718
NM_021625.5(TRPV4):c.2518G>A (p.Glu840Lys) rs55728855 0.00718
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_001113378.2(FANCI):c.1813C>T (p.Leu605Phe) rs117125761 0.00708
NM_002693.3(POLG):c.2492A>G (p.Tyr831Cys) rs41549716 0.00708
NM_016233.2(PADI3):c.1744G>A (p.Ala582Thr) rs34097903 0.00708
NM_001130987.2(DYSF):c.*107T>A rs11903223 0.00707
NM_003002.4(SDHD):c.34G>A (p.Gly12Ser) rs34677591 0.00706
NM_022173.4(TIA1):c.953A>G (p.Gln318Arg) rs115611153 0.00704
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_004541.4(NDUFA1):c.94G>C (p.Gly32Arg) rs1801316 0.00694
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_001126049.2(KLLN):c.-956G>T rs34149102 0.00683
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_001174096.2(ZEB1):c.2522A>C (p.Gln841Pro) rs118020901 0.00680
NM_003002.4(SDHD):c.149A>G (p.His50Arg) rs11214077 0.00679
NM_030632.3(ASXL3):c.6200T>G (p.Leu2067Arg) rs144534810 0.00679
NM_000098.3(CPT2):c.302C>T (p.Ala101Val) rs75939866 0.00675
NM_001142800.2(EYS):c.8422G>A (p.Ala2808Thr) rs111991705 0.00667
NM_138715.3(MSR1):c.520G>T (p.Asp174Tyr) rs72552387 0.00667
NM_001395656.1(ROBO2):c.1556A>T (p.Asn519Ile) rs80051448 0.00662
NM_001122764.3(PPOX):c.767C>G (p.Pro256Arg) rs12735723 0.00660
NM_016239.4(MYO15A):c.9478C>T (p.Leu3160Phe) rs140029076 0.00658
NM_153240.5(NPHP3):c.3941G>C (p.Ser1314Thr) rs75316802 0.00658
NM_000350.3(ABCA4):c.6320G>A (p.Arg2107His) rs62642564 0.00654
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_001190274.2(FBXO11):c.*1173A>T rs2020906 0.00645
NM_004415.4(DSP):c.*9T>A rs11558732 0.00645
NM_017617.5(NOTCH1):c.3767C>T (p.Pro1256Leu) rs80340744 0.00645
NM_017799.4(TMEM260):c.1411G>A (p.Glu471Lys) rs113277637 0.00639
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_031220.4(PITPNM3):c.541G>A (p.Val181Ile) rs61755430 0.00628
NM_199242.3(UNC13D):c.753+3G>A rs116229331 0.00627
NM_005529.7(HSPG2):c.3056C>T (p.Pro1019Leu) rs62642528 0.00626
NM_015937.6(PIGT):c.367G>T (p.Val123Leu) rs141420243 0.00626
NM_000443.4(ABCB4):c.1769G>A (p.Arg590Gln) rs45575636 0.00625
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_000110.4(DPYD):c.557A>G (p.Tyr186Cys) rs115232898 0.00622
NM_000061.3(BTK):c.141+11C>T rs138411530 0.00620
NM_016233.2(PADI3):c.881C>T (p.Ala294Val) rs144080386 0.00620
NM_001875.5(CPS1):c.449G>A (p.Gly150Glu) rs114819130 0.00617
NM_015634.4(KIFBP):c.518T>C (p.Met173Thr) rs62625033 0.00610
NM_000059.4(BRCA2):c.4258G>T (p.Asp1420Tyr) rs28897727 0.00609
NM_000368.5(TSC1):c.2626-3C>T rs1060503192 0.00608
NM_006765.4(TUSC3):c.193A>G (p.Ile65Val) rs11545035 0.00605
NM_006231.4(POLE):c.776G>A (p.Arg259His) rs61732929 0.00604
NM_017950.4(CCDC40):c.2832+466_2832+467del rs570440845 0.00603
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_004646.4(NPHS1):c.563A>T (p.Asn188Ile) rs145125791 0.00598
NM_000059.4(BRCA2):c.9976A>T (p.Lys3326Ter) rs11571833 0.00597
NM_001008216.2(GALE):c.770A>G (p.Lys257Arg) rs28940884 0.00596
NM_000518.5(HBB):c.93-23T>C rs111851677 0.00593
NM_001605.3(AARS1):c.1685C>T (p.Thr562Ile) rs148355156 0.00591
NM_000179.3(MSH6):c.3557-40T>A rs189436849 0.00587
NM_000318.3(PEX2):c.748T>C (p.Trp250Arg) rs142645936 0.00585
NM_002016.2(FLG):c.5717C>A (p.Ser1906Ter) rs141784184 0.00584
NM_000038.6(APC):c.1959G>A (p.Arg653=) rs72541809 0.00583
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_002256.4(KISS1):c.268C>G (p.His90Asp) rs201073751 0.00578
NM_015102.5(NPHP4):c.3674C>T (p.Thr1225Met) rs144624477 0.00576
NM_024753.5(TTC21B):c.2322+3A>G rs79037278 0.00575
NM_000718.4(CACNA1B):c.2093-4C>A rs76062311 0.00574
NM_000969.5(RPL5):c.629A>G (p.Tyr210Cys) rs11540832 0.00574
NM_001065.4(TNFRSF1A):c.224C>T (p.Pro75Leu) rs4149637 0.00574
NM_003477.3(PDHX):c.976G>C (p.Val326Leu) rs35560997 0.00574
NM_000492.4(CFTR):c.3705T>G (p.Ser1235Arg) rs34911792 0.00573
NM_006662.3(SRCAP):c.3302C>A (p.Thr1101Lys) rs149248373 0.00571
NM_018196.4(TMLHE):c.1107G>T (p.Glu369Asp) rs782001959 0.00571
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_000321.3(RB1):c.2521-11G>A rs4151624 0.00570
NM_004544.4(NDUFA10):c.712G>A (p.Glu238Lys) rs35462421 0.00570
NM_182961.4(SYNE1):c.24952C>T (p.Leu8318Phe) rs141716975 0.00570
NM_004341.5(CAD):c.4930T>C (p.Phe1644Leu) rs144692793 0.00569
NM_139281.3(WDR36):c.1642A>G (p.Ile548Val) rs34661294 0.00569
NM_000179.3(MSH6):c.1186C>G (p.Leu396Val) rs2020908 0.00565
NM_153252.5(BRWD3):c.2325+5G>A rs186391561 0.00565
NM_000132.4(F8):c.1508G>A (p.Arg503His) rs35383156 0.00563
NM_000083.3(CLCN1):c.2680C>T (p.Arg894Ter) rs55960271 0.00561
NM_000138.5(FBN1):c.5343G>A (p.Val1781=) rs140649 0.00561
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_015425.6(POLR1A):c.473G>C (p.Arg158Pro) rs146078741 0.00557
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_000038.6(APC):c.-19+45G>A rs370011472 0.00550
NM_001039.4(SCNN1G):c.589G>A (p.Glu197Lys) rs5738 0.00548
NM_024589.3(ROGDI):c.713G>A (p.Arg238His) rs138409264 0.00548
FIBRINOGEN PARIS 1 rs2066862 0.00546
NM_002273.4(KRT8):c.184G>T (p.Gly62Cys) rs11554495 0.00545
NM_002055.5(GFAP):c.140C>T (p.Pro47Leu) rs57474185 0.00543
NM_015330.6(SPECC1L):c.1460G>A (p.Arg487His) rs55723436 0.00543
NM_000321.3(RB1):c.2490-45A>G rs4151610 0.00540
NM_001308093.3(GATA4):c.912+25G>A rs147860174 0.00539
NM_014805.3(EPM2AIP1):c.-202G>C rs35032294 0.00539
NM_024753.5(TTC21B):c.3004C>G (p.Leu1002Val) rs146496725 0.00537
NM_000374.5(UROD):c.952G>A (p.Gly318Arg) rs116233118 0.00531
NM_003041.4(SLC5A2):c.1961A>G (p.Asn654Ser) rs61742739 0.00531
NM_000500.9(CYP21A2):c.1360C>T (p.Pro454Ser) rs6445 0.00530
NM_001174150.2(ARL13B):c.1186C>G (p.Pro396Ala) rs11554412 0.00529
NM_000077.5(CDKN2A):c.379G>T (p.Ala127Ser) rs6413464 0.00527
NM_000374.5(UROD):c.758T>A (p.Leu253Gln) rs36033115 0.00527
NM_000554.6(CRX):c.724G>A (p.Val242Met) rs61748459 0.00521
NM_014363.6(SACS):c.4466A>G (p.Asn1489Ser) rs147099630 0.00521
NM_014946.4(SPAST):c.131C>T (p.Ser44Leu) rs121908515 0.00521
NM_000436.4(OXCT1):c.112C>T (p.Arg38Cys) rs76956231 0.00520
NM_000492.4(CFTR):c.1727G>C (p.Gly576Ala) rs1800098 0.00519
NM_005105.5(RBM8A):c.67+32G>C rs201779890 0.00518
NM_012452.3(TNFRSF13B):c.542C>A (p.Ala181Glu) rs72553883 0.00518
NM_000051.4(ATM):c.6088A>G (p.Ile2030Val) rs145847315 0.00517
NM_000666.3(ACY1):c.1156C>T (p.Arg386Cys) rs2229152 0.00516
NM_002693.3(POLG):c.1550G>T (p.Gly517Val) rs61752783 0.00516
NM_000090.4(COL3A1):c.1804C>A (p.Pro602Thr) rs35795890 0.00513
NM_000110.4(DPYD):c.775A>G (p.Lys259Glu) rs45589337 0.00513
NM_058216.3(RAD51C):c.572-17G>T rs193023469 0.00513
NM_000136.3(FANCC):c.77C>T (p.Ser26Phe) rs1800361 0.00511
NM_001348800.3(ZBTB20):c.1318G>A (p.Glu440Lys) rs138924453 0.00511
NM_170784.3(MKKS):c.724G>T (p.Ala242Ser) rs74315394 0.00508
NM_000243.3(MEFV):c.2084A>G (p.Lys695Arg) rs104895094 0.00506
NM_006883.2(SHOX):c.*38C>T rs188372244 0.00506
NM_016233.2(PADI3):c.335T>A (p.Leu112His) rs142129409 0.00502
NM_000371.4(TTR):c.424G>A (p.Val142Ile) rs76992529 0.00501
NM_000208.4(INSR):c.3034G>A (p.Val1012Met) rs1799816 0.00500
NM_000277.3(PAH):c.820A>G (p.Lys274Glu) rs142934616 0.00496
NM_001365536.1(SCN9A):c.3767A>G (p.Asn1256Ser) rs141268327 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_001009944.3(PKD1):c.6545A>G (p.Gln2182Arg) rs147685291 0.00492
NM_000350.3(ABCA4):c.1927G>A (p.Val643Met) rs61749417 0.00491
NM_001130987.2(DYSF):c.3946A>G (p.Ile1316Val) rs121908954 0.00491
NM_000202.8(IDS):c.925A>G (p.Thr309Ala) rs145807417 0.00488
NM_174936.4(PCSK9):c.1274A>G (p.Asn425Ser) rs28362261 0.00485
NM_004370.6(COL12A1):c.9083G>A (p.Arg3028His) rs41266761 0.00484
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_001377299.1(NDUFS2):c.968G>A (p.Arg323Gln) rs35086265 0.00477
NM_000251.3(MSH2):c.1666T>C (p.Leu556=) rs61756466 0.00471
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_000141.5(FGFR2):c.1288-35A>G rs41295587 0.00467
NM_001166114.2(PNPLA6):c.1457C>T (p.Pro486Leu) rs145191932 0.00466
NM_001199198.3(TBC1D23):c.92G>C (p.Cys31Ser) rs62636640 0.00466
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_002472.3(MYH8):c.5350C>G (p.Arg1784Gly) rs141215006 0.00462
NM_002474.3(MYH11):c.5676G>C (p.Glu1892Asp) rs113964173 0.00462
NM_003105.6(SORL1):c.2840C>T (p.Thr947Met) rs143571823 0.00461
NM_001018115.3(FANCD2):c.1634A>G (p.Asn545Ser) rs145522204 0.00460
NM_022552.5(DNMT3A):c.89A>C (p.Glu30Ala) rs143730975 0.00459
NM_017534.6(MYH2):c.2908G>A (p.Val970Ile) rs143872329 0.00456
NM_001430.5(EPAS1):c.1121T>A (p.Phe374Tyr) rs150797491 0.00455
NM_006567.5(FARS2):c.737C>T (p.Thr246Met) rs116567033 0.00455
NM_004562.3(PRKN):c.458C>G (p.Pro153Arg) rs55654276 0.00452
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_183357.3(ADCY5):c.1902G>C (p.Glu634Asp) rs61734561 0.00451
NM_024675.4(PALB2):c.2794G>A (p.Val932Met) rs45624036 0.00449
NM_000179.3(MSH6):c.2633T>C (p.Val878Ala) rs2020912 0.00448
NM_001109878.2(TBX22):c.176-13C>A rs55760411 0.00447
NM_005609.4(PYGM):c.2009C>T (p.Ala670Val) rs113806080 0.00446
NM_033100.4(CDHR1):c.783G>A (p.Pro261=) rs147346345 0.00446
NM_173354.5(SIK1):c.1215G>A (p.Met405Ile) rs34987632 0.00446
NM_000350.3(ABCA4):c.2588G>C (p.Gly863Ala) rs76157638 0.00445
NM_001317778.2(SFTPC):c.482G>A (p.Arg161Gln) rs34957318 0.00444
NM_030973.4(MED25):c.1004C>T (p.Ala335Val) rs145770066 0.00443
NM_000051.4(ATM):c.5558A>T (p.Asp1853Val) rs1801673 0.00441
NM_002863.5(PYGL):c.1145C>T (p.Pro382Leu) rs143759519 0.00440
NM_013337.4(TIMM22):c.97G>C (p.Val33Leu) rs149879547 0.00440
NM_000059.4(BRCA2):c.7008-62A>G rs76584943 0.00439
NM_015330.6(SPECC1L):c.293C>T (p.Ser98Phe) rs35783914 0.00439
NM_000057.4(BLM):c.4076+4T>G rs183176301 0.00436
NM_002863.5(PYGL):c.1900G>C (p.Asp634His) rs35026927 0.00435
NM_000179.3(MSH6):c.457+13A>G rs1800933 0.00434
NM_007194.4(CHEK2):c.470T>C (p.Ile157Thr) rs17879961 0.00434
NM_000051.4(ATM):c.1810C>T (p.Pro604Ser) rs2227922 0.00431
NM_000053.4(ATP7B):c.3101A>G (p.His1034Arg) rs74085882 0.00430
NM_007294.4(BRCA1):c.*750A>G rs138782023 0.00430
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_014026.6(DCPS):c.677G>A (p.Gly226Asp) rs35836343 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_006939.4(SOS2):c.572C>G (p.Pro191Arg) rs72681869 0.00421
NM_000245.4(MET):c.504G>T (p.Glu168Asp) rs55985569 0.00420
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_017617.5(NOTCH1):c.1042G>C (p.Ala348Pro) rs201236538 0.00418
NM_000254.3(MTR):c.155G>A (p.Arg52Gln) rs12749581 0.00417
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_000322.5(PRPH2):c.133C>T (p.Leu45Phe) rs61755770 0.00414
NM_000515.5(GH1):c.152T>A (p.Phe51Tyr) rs61735357 0.00414
NM_000518.4(HBB):c.19G>A (p.Glu7Lys) rs33930165 0.00414
NM_001142864.4(PIEZO1):c.2344G>A (p.Gly782Ser) rs200970763 0.00414
NM_000038.6(APC):c.933+30A>G rs145211300 0.00412
NM_006982.3(ALX1):c.191G>T (p.Arg64Leu) rs115596276 0.00412
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_001429.4(EP300):c.2773C>A (p.Pro925Thr) rs148884710 0.00410
NM_003036.4(SKI):c.1163C>T (p.Ala388Val) rs75280988 0.00410
NM_024989.4(PGAP1):c.1753C>G (p.Gln585Glu) rs62185645 0.00410
NM_000256.3(MYBPC3):c.530G>A (p.Arg177His) rs201012766 0.00405
NM_025114.4(CEP290):c.1079G>A (p.Arg360Gln) rs188164241 0.00405
NM_001330360.2(POLA1):c.3622G>C (p.Asp1208His) rs41548013 0.00404
NM_014336.5(AIPL1):c.401A>T (p.Tyr134Phe) rs16955851 0.00404
NM_017617.5(NOTCH1):c.4823G>A (p.Arg1608His) rs76371972 0.00404
NM_012452.3(TNFRSF13B):c.310T>C (p.Cys104Arg) rs34557412 0.00403
NM_006662.3(SRCAP):c.5705A>G (p.Glu1902Gly) rs117480926 0.00402
NM_001478.5(B4GALNT1):c.*2667C>T rs113207856 0.00400
NM_000022.4(ADA):c.425G>A (p.Arg142Gln) rs61732239 0.00399
NM_000249.4(MLH1):c.1852A>G (p.Lys618Glu) rs35001569 0.00399
NM_001715.3(BLK):c.*338T>G rs1042695 0.00399
NM_006432.5(NPC2):c.441+1G>A rs140130028 0.00399
NM_001042492.3(NF1):c.528T>A (p.Asp176Glu) rs112306990 0.00398
NM_001106.4(ACVR2B):c.119G>A (p.Arg40His) rs121434437 0.00398
NM_001005242.3(PKP2):c.1445C>T (p.Thr482Met) rs146882581 0.00396
NM_015268.4(DNAJC13):c.3872A>G (p.Glu1291Gly) rs61748101 0.00396
NM_152564.5(VPS13B):c.8903A>G (p.Asn2968Ser) rs28940272 0.00396
NM_030787.4(CFHR5):c.1135G>C (p.Val379Leu) rs111327589 0.00395
NM_000424.4(KRT5):c.1636C>A (p.Leu546Ile) rs114734812 0.00394
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_000130.5(F5):c.3845A>G (p.His1282Arg) rs143333036 0.00389
NM_000161.3(GCH1):c.68C>T (p.Pro23Leu) rs41298432 0.00389
NM_000443.4(ABCB4):c.2800G>A (p.Ala934Thr) rs61730509 0.00389
NM_001379610.1(SPINK1):c.163C>T (p.Pro55Ser) rs111966833 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_007272.3(CTRC):c.760C>T (p.Arg254Trp) rs121909293 0.00386
NM_000350.3(ABCA4):c.2546T>C (p.Val849Ala) rs61749435 0.00385
NM_005560.6(LAMA5):c.7318G>A (p.Val2440Ile) rs150724688 0.00385
NM_000152.5(GAA):c.-32-13T>G rs386834236 0.00384
NM_001098.3(ACO2):c.220C>G (p.Leu74Val) rs141772938 0.00383
NM_006218.4(PIK3CA):c.-138C>T rs149946088 0.00383
NM_181486.4(TBX5):c.331G>T (p.Asp111Tyr) rs77357563 0.00382
NM_001429.4(EP300):c.2091T>G (p.Ser697Arg) rs61756764 0.00379
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_000552.5(VWF):c.2561G>A (p.Arg854Gln) rs41276738 0.00377
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_000372.5(TYR):c.1217C>T (p.Pro406Leu) rs104894313 0.00375
NM_020117.11(LARS1):c.245A>G (p.Lys82Arg) rs112954500 0.00374
NM_002529.4(NTRK1):c.16C>T (p.Arg6Trp) rs201472270 0.00373
NM_001297.5(CNGB1):c.3115G>A (p.Gly1039Arg) rs148999583 0.00372
NM_000190.4(HMBS):c.-28A>C rs201349602 0.00371
NM_000397.4(CYBB):c.1090G>C (p.Gly364Arg) rs141756032 0.00371
NM_138694.4(PKHD1):c.5125C>T (p.Leu1709Phe) rs45517932 0.00371
NM_001244008.2(KIF1A):c.3259C>T (p.Pro1087Ser) rs143037290 0.00369
NM_022168.4(IFIH1):c.1879G>T (p.Glu627Ter) rs35744605 0.00367
NM_001128178.3(NPHP1):c.14G>T (p.Arg5Leu) rs190983114 0.00366
NM_001040142.2(SCN2A):c.2723A>G (p.Lys908Arg) rs2228980 0.00365
NM_004260.4(RECQL4):c.1704+9C>T rs35876881 0.00365
NM_130797.4(DPP6):c.627+21101A>G rs117574002 0.00365
NM_001256849.1(POLD1):c.-51G>A rs576035899 0.00364
NM_002693.3(POLG):c.803G>C (p.Gly268Ala) rs61752784 0.00364
NM_000016.6(ACADM):c.985A>G (p.Lys329Glu) rs77931234 0.00363
NM_002892.4(ARID4A):c.3211+1G>A rs62621193 0.00363
NM_032043.3(BRIP1):c.517C>T (p.Arg173Cys) rs4988345 0.00363
NM_172002.5(HSCB):c.13A>G (p.Arg5Gly) rs200681712 0.00363
NM_000136.3(FANCC):c.1394A>G (p.Gln465Arg) rs1800368 0.00361
NM_003119.4(SPG7):c.1529C>T (p.Ala510Val) rs61755320 0.00361
NM_152419.3(HGSNAT):c.1843G>A (p.Ala615Thr) rs112029032 0.00361
NM_015836.4(WARS2):c.37T>G (p.Trp13Gly) rs139548132 0.00360
NM_003238.6(TGFB2):c.619G>C (p.Val207Leu) rs10482810 0.00359
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_000038.6(APC):c.7862C>G (p.Ser2621Cys) rs72541816 0.00358
NM_000384.3(APOB):c.3383G>A (p.Arg1128His) rs12713843 0.00356
NM_001199753.2(CPT1C):c.2077C>A (p.Leu693Met) rs79488403 0.00356
NM_001453.3(FOXC1):c.*734A>T rs35717904 0.00356
NM_004004.6(GJB2):c.109G>A (p.Val37Ile) rs72474224 0.00354
NM_021912.5(GABRB3):c.31C>T (p.Pro11Ser) rs25409 0.00354
NM_002907.4(RECQL):c.1483G>C (p.Asp495His) rs6499 0.00353
NM_000391.4(TPP1):c.229+181A>C rs189816289 0.00351
NM_001032386.2(SUOX):c.629C>T (p.Pro210Leu) rs141735896 0.00351
NM_000275.3(OCA2):c.1327G>A (p.Val443Ile) rs121918166 0.00350
NM_000492.4(CFTR):c.220C>T (p.Arg74Trp) rs115545701 0.00350
NM_000132.4(F8):c.2114-100A>G rs36044968 0.00349
NM_000447.3(PSEN2):c.211C>T (p.Arg71Trp) rs140501902 0.00349
NM_001734.5(C1S):c.943G>A (p.Asp315Asn) rs117907409 0.00349
NM_058216.3(RAD51C):c.376G>A (p.Ala126Thr) rs61758784 0.00349
NM_182925.5(FLT4):c.1921C>T (p.Pro641Ser) rs55667289 0.00349
NM_001851.6(COL9A1):c.1349A>G (p.Glu450Gly) rs77706858 0.00348
NM_025152.3(NUBPL):c.815-27T>C rs118161496 0.00348
NM_001329943.3(KIAA0586):c.392del (p.Arg131fs) rs534542684 0.00347
NM_002206.3(ITGA7):c.2644G>A (p.Glu882Lys) rs144983062 0.00347
NM_003060.4(SLC22A5):c.1463G>A (p.Arg488His) rs28383481 0.00347
NM_016239.4(MYO15A):c.3026C>A (p.Pro1009His) rs117612144 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_000142.5(FGFR3):c.1150T>C (p.Phe384Leu) rs17881656 0.00342
NM_015058.2(VWA8):c.2003G>A (p.Arg668Gln) rs138075452 0.00342
NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp) rs36053993 0.00341
NM_138694.4(PKHD1):c.8581A>G (p.Ser2861Gly) rs150925674 0.00340
NM_000426.4(LAMA2):c.4487C>T (p.Ala1496Val) rs147077184 0.00338
NM_000492.4(CFTR):c.3808G>A (p.Asp1270Asn) rs11971167 0.00338
NM_005472.5(KCNE3):c.248G>A (p.Arg83His) rs17215437 0.00338
NM_015311.3(OBSL1):c.4732C>T (p.Gln1578Ter) rs116131367 0.00337
NM_020754.4(ARHGAP31):c.820C>T (p.Pro274Ser) rs139600783 0.00337
NM_000492.4(CFTR):c.650A>G (p.Glu217Gly) rs121909046 0.00335
NM_001009944.3(PKD1):c.12826C>T (p.Arg4276Trp) rs114251396 0.00335
NM_023067.4(FOXL2):c.*619C>A rs180829214 0.00335
NM_000338.3(SLC12A1):c.347G>A (p.Arg116His) rs34819316 0.00334
NM_001134363.3(RBM20):c.3373G>A (p.Glu1125Lys) rs116908219 0.00333
NM_004070.4(CLCNKA):c.935C>T (p.Thr312Ile) rs138110172 0.00332
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_000065.5(C6):c.1879del (p.Asp627fs) rs61469168 0.00328
NM_014014.5(SNRNP200):c.4165G>A (p.Val1389Ile) rs143898031 0.00328
NM_000245.4(MET):c.2908C>T (p.Arg970Cys) rs34589476 0.00327
NM_004281.4(BAG3):c.1138C>T (p.Pro380Ser) rs144692954 0.00327
NM_006231.4(POLE):c.4259C>T (p.Ala1420Val) rs41561818 0.00325
NM_000038.6(APC):c.4420G>A (p.Ala1474Thr) rs139387758 0.00324
NM_016038.4(SBDS):c.258+2T>C rs113993993 0.00323
NM_000168.6(GLI3):c.1393G>C (p.Gly465Arg) rs35488756 0.00320
NM_213599.3(ANO5):c.680G>C (p.Gly227Ala) rs140903276 0.00320
NM_000035.4(ALDOB):c.448G>C (p.Ala150Pro) rs1800546 0.00319
NM_000501.4(ELN):c.2132G>A (p.Gly711Asp) rs41511151 0.00318
NM_006514.4(SCN10A):c.5657C>T (p.Ala1886Val) rs142653846 0.00318
NM_032578.4(MYPN):c.3335C>T (p.Pro1112Leu) rs71534278 0.00318
NM_001348800.3(ZBTB20):c.1164C>G (p.Asp388Glu) rs144663365 0.00317
NM_033337.3(CAV3):c.233C>T (p.Thr78Met) rs72546668 0.00317
NM_005560.6(LAMA5):c.4405T>G (p.Ser1469Ala) rs144009130 0.00316
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_000355.4(TCN2):c.428-31G>A rs188667136 0.00314
NM_001013836.2(MAD1L1):c.175C>T (p.Arg59Cys) rs121908982 0.00314
NM_000251.3(MSH2):c.339G>A (p.Lys113=) rs35898375 0.00313
NM_005529.7(HSPG2):c.10498G>A (p.Val3500Met) rs143543800 0.00313
NM_001399.5(EDA):c.206G>T (p.Arg69Leu) rs132630309 0.00312
NM_006565.4(CTCF):c.1927C>T (p.Pro643Ser) rs145727304 0.00312
NM_002470.4(MYH3):c.4910C>T (p.Ala1637Val) rs34165480 0.00311
NM_004360.5(CDH1):c.1774G>A (p.Ala592Thr) rs35187787 0.00311
NM_014588.6(VSX1):c.731A>G (p.His244Arg) rs148957473 0.00310
NM_020975.6(RET):c.166C>A (p.Leu56Met) rs145633958 0.00310
NM_000440.3(PDE6A):c.878C>T (p.Pro293Leu) rs114973968 0.00309
NM_006493.4(CLN5):c.-87C>T rs200353554 0.00309
NM_018706.7(DHTKD1):c.209C>G (p.Ala70Gly) rs34644609 0.00309
NM_000169.3(GLA):c.937G>T (p.Asp313Tyr) rs28935490 0.00308
NM_000350.3(ABCA4):c.6148G>C (p.Val2050Leu) rs41292677 0.00308
NM_001110792.2(MECP2):c.1225G>A (p.Glu409Lys) rs56268439 0.00308
NM_001182.4(ALDH7A1):c.-80T>G rs563928852 0.00308
NM_006218.4(PIK3CA):c.1146-30G>A rs8192676 0.00308
NM_000208.4(INSR):c.2971C>A (p.Leu991Ile) rs150114699 0.00307
NM_012082.4(ZFPM2):c.1632G>A (p.Met544Ile) rs187043152 0.00306
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_032043.3(BRIP1):c.577G>A (p.Val193Ile) rs4988346 0.00305
NM_001089.3(ABCA3):c.875A>T (p.Glu292Val) rs149989682 0.00304
NM_015909.4(NBAS):c.4913G>A (p.Arg1638His) rs146449593 0.00303
NM_001378778.1(MPDZ):c.2344G>A (p.Gly782Arg) rs192227753 0.00302
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_001048174.2(MUTYH):c.1103-27C>T rs3219490 0.00300
NM_020361.5(CPA6):c.809C>T (p.Ala270Val) rs114402678 0.00300
NM_000236.3(LIPC):c.1214C>T (p.Thr405Met) rs113298164 0.00299
NM_001063.4(TF):c.2012G>A (p.Gly671Glu) rs121918677 0.00299
NM_000249.4(MLH1):c.1963A>G (p.Ile655Val) rs55907433 0.00297
NM_003238.6(TGFB2):c.272G>A (p.Arg91His) rs10482721 0.00297
NM_000059.4(BRCA2):c.4068G>A (p.Leu1356=) rs28897724 0.00295
NM_000128.4(F11):c.1304+12G>A rs116667976 0.00295
NM_000166.6(GJB1):c.704T>G (p.Phe235Cys) rs104894825 0.00295
NM_000492.4(CFTR):c.4242+13A>G rs76179227 0.00295
NM_001142800.2(EYS):c.2500G>A (p.Val834Ile) rs112464110 0.00293
NM_139281.3(WDR36):c.-70C>G rs35629723 0.00293
NM_213599.3(ANO5):c.259G>A (p.Val87Ile) rs34994927 0.00293
NM_017780.4(CHD7):c.856A>G (p.Arg286Gly) rs61995713 0.00290
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_024675.4(PALB2):c.2590C>T (p.Pro864Ser) rs45568339 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_006883.2(SHOX):c.676T>C (p.Ter226Arg) rs778160013 0.00286
NM_004260.4(RECQL4):c.1954G>A (p.Val652Met) rs61754061 0.00285
NM_000342.4(SLC4A1):c.2561C>T (p.Pro854Leu) rs2285644 0.00284
NM_005215.4(DCC):c.2105A>G (p.Asn702Ser) rs35691189 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_000053.4(ATP7B):c.4301C>T (p.Thr1434Met) rs60986317 0.00282
NM_000301.5(PLG):c.112A>G (p.Lys38Glu) rs73015965 0.00282
NM_000540.3(RYR1):c.4178A>G (p.Lys1393Arg) rs137933390 0.00282
NM_020751.3(COG6):c.358A>G (p.Ser120Gly) rs139313781 0.00280
NM_080916.3(DGUOK):c.4G>T (p.Ala2Ser) rs147551003 0.00280
NM_000057.4(BLM):c.1088-40T>C rs184128669 0.00278
NM_001365536.1(SCN9A):c.2248A>G (p.Ile750Val) rs182650126 0.00278
NM_000059.4(BRCA2):c.68-7T>A rs81002830 0.00277
NM_000553.6(WRN):c.3785C>G (p.Thr1262Arg) rs78488552 0.00276
NM_000136.3(FANCC):c.584A>T (p.Asp195Val) rs1800365 0.00275
NM_006218.4(PIK3CA):c.2016-12C>T rs147286696 0.00275
NM_182925.5(FLT4):c.2860C>T (p.Pro954Ser) rs34255532 0.00275
NM_000168.6(GLI3):c.341G>A (p.Arg114Lys) rs146458902 0.00274
NM_000203.5(IDUA):c.246C>G (p.His82Gln) rs148775298 0.00274
NM_000969.5(RPL5):c.3+3G>C rs200628272 0.00274
NM_152416.4(NDUFAF6):c.838G>A (p.Val280Ile) rs61743028 0.00274
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_006363.6(SEC23B):c.1512T>C (p.Asn504=) rs138198461 0.00271
NM_032043.3(BRIP1):c.2097+7G>A rs4988352 0.00271
NM_000298.6(PKLR):c.1456C>T (p.Arg486Trp) rs116100695 0.00270
NM_007194.4(CHEK2):c.592+50A>T rs17881298 0.00270
NM_032782.5(HAVCR2):c.291A>G (p.Ile97Met) rs35960726 0.00270
NM_000350.3(ABCA4):c.5882G>A (p.Gly1961Glu) rs1800553 0.00269
NM_014141.6(CNTNAP2):c.1083G>A (p.Val361=) rs139180845 0.00269
NM_000059.4(BRCA2):c.6100C>T (p.Arg2034Cys) rs1799954 0.00268
NM_002024.6(FMR1):c.*746T>C rs183130936 0.00268
NM_012295.4(CABIN1):c.5821G>C (p.Val1941Leu) rs142219142 0.00267
NM_017780.4(CHD7):c.7579A>C (p.Met2527Leu) rs192129249 0.00267
NM_030962.4(SBF2):c.2323G>A (p.Gly775Ser) rs141330687 0.00267
NM_002485.5(NBN):c.381T>C (p.Ala127=) rs61754795 0.00266
NM_198578.4(LRRK2):c.1000G>A (p.Glu334Lys) rs78501232 0.00266
NM_000051.4(ATM):c.2362A>C (p.Ser788Arg) rs641252 0.00265
NM_015102.5(NPHP4):c.1622C>T (p.Pro541Leu) rs145255635 0.00265
NM_000222.3(KIT):c.2597-51T>C rs368272654 0.00263
NM_000781.3(CYP11A1):c.940G>A (p.Glu314Lys) rs6161 0.00262
NM_001126049.2(KLLN):c.-898G>A rs538728843 0.00262
NM_004360.5(CDH1):c.1680G>C (p.Thr560=) rs35741240 0.00261
NM_000059.4(BRCA2):c.6323G>A (p.Arg2108His) rs35029074 0.00260
NM_000666.3(ACY1):c.1057C>T (p.Arg353Cys) rs121912698 0.00260
NM_020435.4(GJC2):c.445G>A (p.Gly149Ser) rs577325764 0.00260
NM_002609.4(PDGFRB):c.3287C>T (p.Ala1096Val) rs114435947 0.00259
NM_006514.4(SCN10A):c.3803G>A (p.Arg1268Gln) rs138832868 0.00259
NM_022124.6(CDH23):c.3293A>G (p.Asn1098Ser) rs41281310 0.00258
NM_000091.5(COL4A3):c.4421T>C (p.Leu1474Pro) rs200302125 0.00257
NM_004656.4(BAP1):c.1250+42G>A rs150454901 0.00257
NM_001243177.4(ALDOA):c.1201G>A (p.Gly401Ser) rs138824667 0.00256
NM_000071.3(CBS):c.1105C>T (p.Arg369Cys) rs117687681 0.00255
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_006080.3(SEMA3A):c.458A>G (p.Asn153Ser) rs139295139 0.00254
NM_000179.3(MSH6):c.3911G>A (p.Arg1304Lys) rs34625968 0.00253
NM_001042517.2(DIAPH3):c.2149T>C (p.Ser717Pro) rs191267920 0.00253
NM_005236.3(ERCC4):c.2579C>A (p.Ala860Asp) rs4986933 0.00253
NM_006502.3(POLH):c.626G>T (p.Gly209Val) rs2307456 0.00253
NM_201631.4(TGM5):c.337G>T (p.Gly113Cys) rs112292549 0.00252
NM_007315.4(STAT1):c.796G>A (p.Val266Ile) rs41473544 0.00251
NM_000038.6(APC):c.3386T>C (p.Leu1129Ser) rs143638171 0.00250
NM_000088.4(COL1A1):c.1984-5C>A rs66592376 0.00249
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_000939.4(POMC):c.583G>A (p.Ala195Thr) rs141309351 0.00247
NM_004473.4(FOXE1):c.743C>G (p.Ala248Gly) rs538912281 0.00247
NM_002016.2(FLG):c.9947C>G (p.Ser3316Ter) rs149484917 0.00246
NM_000051.4(ATM):c.2921+19dup rs56112367 0.00245
NM_000057.4(BLM):c.3613G>A (p.Val1205Ile) rs28385141 0.00245
NM_001374385.1(ATP8B1):c.208G>A (p.Asp70Asn) rs34719006 0.00245
NM_004168.4(SDHA):c.1523C>T (p.Thr508Ile) rs151266052 0.00245
NM_000204.5(CFI):c.1322A>G (p.Lys441Arg) rs41278047 0.00243
NM_002016.2(FLG):c.2476C>T (p.Arg826Ter) rs115746363 0.00243
NM_003072.5(SMARCA4):c.2275-3C>A rs117611401 0.00243
NM_000245.4(MET):c.2365-21G>C rs140853140 0.00242
NM_006218.4(PIK3CA):c.2016-29A>T rs374926790 0.00242
NM_005956.4(MTHFD1):c.878G>A (p.Arg293His) rs34181110 0.00241
NM_006231.4(POLE):c.51C>G (p.Gly17=) rs780436496 0.00240
NM_007294.4(BRCA1):c.4535G>T (p.Ser1512Ile) rs1800744 0.00240
NM_018706.7(DHTKD1):c.1832A>G (p.Gln611Arg) rs147938299 0.00240
NM_000059.4(BRCA2):c.8182G>A (p.Val2728Ile) rs28897749 0.00239
NM_000751.3(CHRND):c.862C>G (p.Gln288Glu) rs41265127 0.00239
NM_001379110.1(SLC9A6):c.1460+4A>G rs180727016 0.00239
NM_213599.3(ANO5):c.155A>G (p.Asn52Ser) rs143777403 0.00238
NM_000129.4(F13A1):c.1777G>A (p.Gly593Ser) rs138754417 0.00237
NM_000552.5(VWF):c.4751A>G (p.Tyr1584Cys) rs1800386 0.00237
NM_213720.3(CHCHD10):c.100C>T (p.Pro34Ser) rs551521196 0.00237
NM_000136.3(FANCC):c.1156T>C (p.Ser386Pro) rs41281202 0.00236
NM_207122.2(EXT2):c.710C>T (p.Ser237Leu) rs139525250 0.00236
NM_001148.6(ANK2):c.11791G>A (p.Glu3931Lys) rs45454496 0.00235
NM_000170.3(GLDC):c.1229G>A (p.Arg410Lys) rs144090917 0.00234
NM_000057.4(BLM):c.4077-10C>T rs145310008 0.00233
NM_015107.3(PHF8):c.2720G>A (p.Arg907His) rs142630105 0.00233
NM_020822.3(KCNT1):c.2543A>G (p.Glu848Gly) rs149804567 0.00233
NM_139027.6(ADAMTS13):c.1423C>T (p.Pro475Ser) rs11575933 0.00232
NM_000554.6(CRX):c.196G>A (p.Val66Ile) rs61748438 0.00231
NM_001005242.3(PKP2):c.2260A>G (p.Thr754Ala) rs112592855 0.00231
NM_000135.4(FANCA):c.1874G>C (p.Cys625Ser) rs139235751 0.00230
NM_000465.4(BARD1):c.1977A>G (p.Arg659=) rs147215925 0.00230
NM_000514.4(GDNF):c.448G>A (p.Asp150Asn) rs76466003 0.00230
NM_000153.4(GALC):c.334A>G (p.Thr112Ala) rs147313927 0.00229
NM_000552.5(VWF):c.4315G>A (p.Val1439Met) rs150077670 0.00229
NM_000122.2(ERCC3):c.2111C>T (p.Ser704Leu) rs4150521 0.00227
NM_001256789.3(CACNA1F):c.1870G>A (p.Val624Ile) rs141010716 0.00227
NM_022454.4(SOX17):c.775T>A (p.Tyr259Asn) rs267607083 0.00226
NM_000262.3(NAGA):c.973G>A (p.Glu325Lys) rs121434529 0.00225
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_001017989.3(OPA3):c.184G>A (p.Gly62Ser) rs140959406 0.00223
NM_001142800.2(EYS):c.3329C>G (p.Thr1110Ser) rs143327210 0.00223
NM_000377.3(WAS):c.391G>A (p.Glu131Lys) rs146220228 0.00222
NM_000492.4(CFTR):c.1210-13del rs750294275 0.00222
NM_001009944.3(PKD1):c.6749C>T (p.Thr2250Met) rs139971481 0.00222
NM_021870.3(FGG):c.323C>G (p.Ala108Gly) rs148685782 0.00222
NM_014874.4(MFN2):c.892G>A (p.Gly298Arg) rs41278630 0.00221
NM_001042492.3(NF1):c.1994C>T (p.Ser665Phe) rs145891889 0.00220
NM_005916.5(MCM7):c.1417G>A (p.Gly473Ser) rs2307347 0.00220
NM_016932.5(SIX2):c.722C>T (p.Pro241Leu) rs147806994 0.00220
NM_144773.4(PROKR2):c.518T>G (p.Leu173Arg) rs74315416 0.00220
NM_144964.4(TRMT10B):c.866A>T (p.Tyr289Phe) rs199618338 0.00220
NM_144964.4(TRMT10B):c.867C>A (p.Tyr289Ter) rs200754365 0.00220
NM_001242896.3(DEPDC5):c.2020C>T (p.Arg674Cys) rs181347577 0.00218
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_144997.7(FLCN):c.1333G>A (p.Ala445Thr) rs41419545 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_005236.3(ERCC4):c.1812-5T>C rs2020952 0.00215
NM_006495.4(EVI2B):c.1019C>G (p.Pro340Arg) rs17884293 0.00215
NM_001171.6(ABCC6):c.742C>T (p.Leu248Phe) rs72653756 0.00214
NM_032444.4(SLX4):c.4648C>T (p.Arg1550Trp) rs77021998 0.00214
NM_000057.4(BLM):c.254G>C (p.Arg85Thr) rs141503266 0.00213
NM_006005.3(WFS1):c.712+16G>A rs71524367 0.00213
NM_000077.5(CDKN2A):c.150+37G>C rs45456595 0.00212
NM_000492.4(CFTR):c.2620-15C>G rs139379077 0.00212
NM_001127701.1(SERPINA1):c.739C>T (p.Arg247Cys) rs28929470 0.00211
NM_001999.4(FBN2):c.829G>A (p.Val277Ile) rs146849637 0.00210
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_139027.6(ADAMTS13):c.1370C>T (p.Pro457Leu) rs36220240 0.00209
NM_000059.4(BRCA2):c.2926T>A (p.Ser976Thr) rs144862123 0.00208
NM_000059.4(BRCA2):c.2927C>T (p.Ser976Phe) rs11571656 0.00208
NM_000492.4(CFTR):c.2991G>C (p.Leu997Phe) rs1800111 0.00208
NM_004006.3(DMD):c.3970C>T (p.Arg1324Cys) rs143184877 0.00208
NM_058216.3(RAD51C):c.790G>A (p.Gly264Ser) rs147241704 0.00207
NM_000065.5(C6):c.1138del (p.Gln380fs) rs375762365 0.00206
NM_002485.5(NBN):c.643C>T (p.Arg215Trp) rs34767364 0.00206
NM_004366.6(CLCN2):c.218G>A (p.Arg73His) rs144412275 0.00205
NM_005431.2(XRCC2):c.808T>G (p.Phe270Val) rs145085742 0.00205
NM_019616.4(F7):c.533T>G (p.Ile178Ser) rs141219108 0.00205
NM_000500.9(CYP21A2):c.597A>T (p.Leu199Phe) rs143240527 0.00204
NM_003888.4(ALDH1A2):c.451G>T (p.Ala151Ser) rs115875978 0.00204
NM_000059.4(BRCA2):c.7150C>A (p.Gln2384Lys) rs55977008 0.00203
NM_019112.4(ABCA7):c.5570+5G>C rs200538373 0.00203
NM_000059.4(BRCA2):c.8503T>C (p.Ser2835Pro) rs11571746 0.00202
NM_000540.3(RYR1):c.2677G>A (p.Gly893Ser) rs147336515 0.00202
NM_001370259.2(MEN1):c.-24+84C>G rs568093485 0.00202
NM_004807.3(HS6ST1):c.652C>T (p.Pro218Ser) rs200268730 0.00202
NM_000251.3(MSH2):c.*226A>G rs17225060 0.00201
NM_007194.4(CHEK2):c.254C>T (p.Pro85Leu) rs17883862 0.00201
NM_000314.8(PTEN):c.254-34T>G rs34047313 0.00200
NM_000478.6(ALPL):c.571G>A (p.Glu191Lys) rs121918007 0.00200
NM_001242896.3(DEPDC5):c.3683T>C (p.Ile1228Thr) rs200653339 0.00200
NM_001386094.1(AGBL1):c.3157C>T (p.Arg1053Trp) rs185919705 0.00200
NM_004840.3(ARHGEF6):c.169T>C (p.Cys57Arg) rs147131853 0.00200
NM_015102.5(NPHP4):c.2882G>A (p.Arg961His) rs183885357 0.00200
NM_000314.8(PTEN):c.209+84G>A rs185262832 0.00199
NM_014215.3(INSRR):c.1660C>T (p.Arg554Cys) rs56068937 0.00199
NM_000545.8(HNF1A):c.1165T>G (p.Leu389Val) rs115080759 0.00198
NM_014215.3(INSRR):c.736T>C (p.Cys246Arg) rs56377825 0.00197
NM_021175.4(HAMP):c.212G>A (p.Gly71Asp) rs104894696 0.00197
NM_032043.3(BRIP1):c.584T>C (p.Leu195Pro) rs4988347 0.00197
NM_000051.4(ATM):c.8269-14A>T rs114320959 0.00195
NM_000059.4(BRCA2):c.6937+565T>C rs11571675 0.00195
NM_000168.6(GLI3):c.2424A>G (p.Ile808Met) rs62622373 0.00194
NM_000350.3(ABCA4):c.2971G>C (p.Gly991Arg) rs61749455 0.00194
NM_007272.3(CTRC):c.640-12G>A rs183053579 0.00194
NM_014795.4(ZEB2):c.807+3G>C rs144925893 0.00194
NM_138801.3(GALM):c.424G>A (p.Gly142Arg) rs114440198 0.00194
NM_199242.3(UNC13D):c.847A>G (p.Ile283Val) rs61754871 0.00194
NM_000500.9(CYP21A2):c.797C>T (p.Ala266Val) rs144029176 0.00193
NM_001048166.1(STIL):c.1455G>C (p.Leu485Phe) rs139912214 0.00193
NM_002294.3(LAMP2):c.661G>A (p.Gly221Arg) rs145169006 0.00193
NM_005002.5(NDUFA9):c.897-115A>G rs185994125 0.00193
NM_000053.4(ATP7B):c.3889G>A (p.Val1297Ile) rs148399850 0.00192
NM_000155.4(GALT):c.563A>G (p.Gln188Arg) rs75391579 0.00192
NM_000535.7(PMS2):c.2350G>A (p.Asp784Asn) rs143340522 0.00192
NM_004618.5(TOP3A):c.2270C>T (p.Pro757Leu) rs149596894 0.00192
NM_000059.4(BRCA2):c.231T>G (p.Thr77=) rs114446594 0.00191
NM_000157.4(GBA1):c.1226A>G (p.Asn409Ser) rs76763715 0.00191
NM_000350.3(ABCA4):c.5196+1159G>A rs80110715 0.00191
NM_014967.5(FAN1):c.149T>G (p.Met50Arg) rs148404807 0.00191
NM_000088.4(COL1A1):c.4006-33G>A rs201920224 0.00190
NM_018706.7(DHTKD1):c.2185G>A (p.Gly729Arg) rs117225135 0.00190
NM_024589.3(ROGDI):c.522C>T (p.Ser174=) rs150687774 0.00190
NM_000032.5(ALAS2):c.1757A>T (p.Tyr586Phe) rs139596860 0.00189
NM_000245.4(MET):c.1715G>A (p.Ser572Asn) rs199771406 0.00188
NM_000249.4(MLH1):c.790+10A>G rs182733777 0.00188
NM_002485.5(NBN):c.283G>A (p.Asp95Asn) rs61753720 0.00188
NM_153704.6(TMEM67):c.1078A>G (p.Thr360Ala) rs140191346 0.00188
NM_000051.4(ATM):c.1229T>C (p.Val410Ala) rs56128736 0.00186
NM_001308093.3(GATA4):c.*1168T>C rs549543886 0.00185
NM_003000.3(SDHB):c.32G>A (p.Arg11His) rs111430410 0.00185
NM_000251.3(MSH2):c.23C>T (p.Thr8Met) rs17217716 0.00184
NM_000435.3(NOTCH3):c.509A>G (p.His170Arg) rs147373451 0.00184
NM_001378418.1(TCF20):c.4670C>T (p.Pro1557Leu) rs199838890 0.00183
NM_031276.3(TEX11):c.2047G>A (p.Ala683Thr) rs140984555 0.00183
NM_152424.4(AMER1):c.85G>A (p.Ala29Thr) rs138399473 0.00183
NM_198488.5(FAM83H):c.1669G>T (p.Gly557Cys) rs312262803 0.00183
NM_000059.4(BRCA2):c.1792A>G (p.Thr598Ala) rs28897710 0.00182
NM_000182.5(HADHA):c.1528G>C (p.Glu510Gln) rs137852769 0.00182
NM_001378414.1(HDAC4):c.2371G>A (p.Ala791Thr) rs61754648 0.00181
NM_007194.4(CHEK2):c.1100del (p.Thr367fs) rs555607708 0.00181
NM_000214.3(JAG1):c.2810G>A (p.Arg937Gln) rs145895196 0.00180
NM_001098484.3(SLC4A4):c.149G>C (p.Gly50Ala) rs41265669 0.00180
NM_004006.3(DMD):c.9682T>C (p.Phe3228Leu) rs141392048 0.00180
NM_000124.4(ERCC6):c.3122A>C (p.Gln1041Pro) rs139007661 0.00179
NM_003000.3(SDHB):c.423+20T>A rs190139590 0.00179
NM_000129.4(F13A1):c.1730C>T (p.Thr577Met) rs143711562 0.00178
NM_000335.5(SCN5A):c.1852C>T (p.Leu618Phe) rs45488304 0.00178
NM_000350.3(ABCA4):c.3113C>T (p.Ala1038Val) rs61751374 0.00178
NM_001009944.3(PKD1):c.12460C>T (p.Arg4154Cys) rs115538130 0.00178
NM_020975.6(RET):c.2372A>T (p.Tyr791Phe) rs77724903 0.00178
NM_152564.5(VPS13B):c.11195G>A (p.Arg3732Gln) rs149318176 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_000371.4(TTR):c.416C>T (p.Thr139Met) rs28933981 0.00177
NM_000535.7(PMS2):c.383C>T (p.Ser128Leu) rs116373169 0.00177
NM_005529.7(HSPG2):c.4916C>T (p.Thr1639Met) rs142433309 0.00177
NM_000465.4(BARD1):c.33G>T (p.Gln11His) rs143914387 0.00176
NM_001256789.3(CACNA1F):c.2204A>C (p.Asn735Thr) rs141159097 0.00176
NM_002691.4(POLD1):c.773C>T (p.Thr258Met) rs76131127 0.00176
NM_000341.4(SLC3A1):c.1400T>C (p.Met467Thr) rs121912691 0.00175
NM_001710.6(CFB):c.724A>C (p.Ile242Leu) rs144812066 0.00175
NM_000535.7(PMS2):c.2523G>A (p.Trp841Ter) rs587780057 0.00174
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_000057.4(BLM):c.2119C>T (p.Pro707Ser) rs146077918 0.00172
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_002875.5(RAD51):c.449G>A (p.Arg150Gln) rs121917739 0.00171
NM_017617.5(NOTCH1):c.4028C>T (p.Ala1343Val) rs183156491 0.00171
NM_004738.5(VAPB):c.510G>A (p.Met170Ile) rs143144050 0.00170
NM_006231.4(POLE):c.4523G>A (p.Arg1508His) rs142508245 0.00170
NM_015693.4(INTU):c.1354G>A (p.Ala452Thr) rs150681845 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_024818.6(UBA5):c.1111G>A (p.Ala371Thr) rs114925667 0.00169
NM_000059.4(BRCA2):c.4187A>G (p.Gln1396Arg) rs55969723 0.00168
NM_000138.5(FBN1):c.3509G>A (p.Arg1170His) rs137854475 0.00168
NM_000369.5(TSHR):c.357T>A (p.Pro119=) rs144084915 0.00168
NM_001048174.2(MUTYH):c.452A>G (p.Tyr151Cys) rs34612342 0.00168
NM_002878.4(RAD51D):c.568G>A (p.Ala190Thr) rs80116829 0.00167
NM_000051.4(ATM):c.609C>T (p.Asp203=) rs144709948 0.00166
NM_015268.4(DNAJC13):c.5684C>T (p.Thr1895Met) rs145242123 0.00166
NM_000051.4(ATM):c.7788+8G>T rs112775908 0.00165
NM_177438.3(DICER1):c.20A>G (p.Gln7Arg) rs117358479 0.00165
NM_033337.2(CAV3):c.216C>G (p.Cys72Trp) rs116840776 0.00164
NM_207034.3(EDN3):c.670G>A (p.Ala224Thr) rs11570351 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_001371986.1(UNC80):c.1806G>C (p.Gln602His) rs200473652 0.00163
NM_005050.4(ABCD4):c.1411C>T (p.Arg471Trp) rs45568335 0.00163
NM_000096.4(CP):c.2684G>C (p.Gly895Ala) rs139633388 0.00162
NM_000532.5(PCCB):c.1490C>T (p.Ala497Val) rs142403318 0.00162
NM_001111.5(ADAR):c.577C>G (p.Pro193Ala) rs145588689 0.00162
NM_001174096.2(ZEB1):c.2717C>G (p.Ala906Gly) rs78449005 0.00162
NM_020822.3(KCNT1):c.2729G>A (p.Arg910Gln) rs151272083 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_001354604.2(MITF):c.1273G>A (p.Glu425Lys) rs149617956 0.00160
NM_001377265.1(MAPT):c.1505C>T (p.Ser502Phe) rs143956882 0.00160
NM_002693.3(POLG):c.1760C>T (p.Pro587Leu) rs113994096 0.00160
NM_006361.6(HOXB13):c.251G>A (p.Gly84Glu) rs138213197 0.00160
NM_000179.3(MSH6):c.3801+17T>C rs3136365 0.00159
NM_001165963.4(SCN1A):c.3521C>G (p.Thr1174Ser) rs121918799 0.00159
NM_002691.4(POLD1):c.80A>T (p.Asp27Val) rs150066950 0.00159
NM_002693.3(POLG):c.752C>T (p.Thr251Ile) rs113994094 0.00159
NM_004360.5(CDH1):c.2292C>T (p.Asp764=) rs61747636 0.00159
NM_000059.4(BRCA2):c.125A>G (p.Tyr42Cys) rs4987046 0.00158
NM_000179.3(MSH6):c.431G>T (p.Ser144Ile) rs3211299 0.00158
NM_000321.3(RB1):c.380+10C>G rs187110786 0.00158
NM_001943.5(DSG2):c.1174G>A (p.Val392Ile) rs193922639 0.00158
NM_178857.6(RP1L1):c.568C>T (p.Arg190Cys) rs202110498 0.00158
NM_001126108.2(SLC12A3):c.965C>T (p.Ala322Val) rs142679083 0.00157
NM_001372051.1(CASP8):c.803-2986C>G rs372086843 0.00157
NM_000431.4(MVK):c.1129G>A (p.Val377Ile) rs28934897 0.00156
NM_000548.5(TSC2):c.5383C>T (p.Arg1795Cys) rs45517423 0.00156
NM_007055.4(POLR3A):c.1909+22G>A rs191875469 0.00156
NM_004315.6(ASAH1):c.35G>C (p.Arg12Pro) rs147896487 0.00155
NM_004360.5(CDH1):c.164-45T>C rs189978842 0.00155
NM_000124.4(ERCC6):c.4223A>C (p.Glu1408Ala) rs61760167 0.00154
NM_001048174.2(MUTYH):c.1501C>A (p.Leu501Met) rs3219496 0.00154
NM_001165963.4(SCN1A):c.1625G>A (p.Arg542Gln) rs121918817 0.00154
NM_001360016.2(G6PD):c.968T>C (p.Leu323Pro) rs76723693 0.00154
NM_002471.4(MYH6):c.1763A>C (p.Asp588Ala) rs142992009 0.00153
NM_002769.5(PRSS1):c.86A>C (p.Asn29Thr) rs111033566 0.00153
NM_080680.3(COL11A2):c.2336C>T (p.Pro779Leu) rs150877886 0.00153
NM_003482.4(KMT2D):c.10256A>G (p.Asp3419Gly) rs146044282 0.00152
NM_000053.4(ATP7B):c.4135C>T (p.Pro1379Ser) rs181250704 0.00151
NM_001486.4(GCKR):c.307G>A (p.Val103Met) rs146175795 0.00151
NM_001846.4(COL4A2):c.5068G>A (p.Ala1690Thr) rs201105747 0.00151
NM_001041.4(SI):c.3218G>A (p.Gly1073Asp) rs121912616 0.00150
NM_001943.5(DSG2):c.166G>A (p.Val56Met) rs121913013 0.00150
NM_006446.5(SLCO1B1):c.1738C>T (p.Arg580Ter) rs71581941 0.00150
NM_007294.4(BRCA1):c.4113G>A (p.Gly1371=) rs147448807 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_000053.4(ATP7B):c.1995G>A (p.Met665Ile) rs72552259 0.00149
NM_001110.4(ADAM10):c.510G>C (p.Gln170His) rs61751103 0.00149
NM_152424.4(AMER1):c.401A>C (p.His134Pro) rs146489129 0.00149
NM_001177316.2(SLC34A3):c.790G>A (p.Gly264Ser) rs148072630 0.00148
NM_001379200.1(TBX1):c.955G>A (p.Gly319Ser) rs41298838 0.00148
NM_001849.4(COL6A2):c.2558G>A (p.Arg853Gln) rs144830948 0.00148
NM_003865.2(HESX1):c.-276T>G rs983243 0.00148
NM_000243.3(MEFV):c.2177T>C (p.Val726Ala) rs28940579 0.00147
NM_001369268.1(ACAN):c.230G>A (p.Arg77His) rs199701329 0.00147
NM_000051.4(ATM):c.2608A>G (p.Asn870Asp) rs61734354 0.00146
NM_000059.4(BRCA2):c.3515C>T (p.Ser1172Leu) rs80358600 0.00146
NM_001363711.2(DUOX2):c.598G>A (p.Gly200Arg) rs2467827 0.00146
NM_000492.4(CFTR):c.853A>T (p.Ile285Phe) rs151073129 0.00145
NM_002485.5(NBN):c.511A>G (p.Ile171Val) rs61754966 0.00145
NM_004360.5(CDH1):c.2440-6C>G rs139757930 0.00145
NM_006766.5(KAT6A):c.4952C>T (p.Pro1651Leu) rs144417514 0.00145
NM_014694.4(ADAMTSL2):c.2042G>A (p.Arg681Gln) rs553955759 0.00145
NM_000335.5(SCN5A):c.3919C>T (p.Leu1307Phe) rs41313031 0.00144
NM_001127208.3(TET2):c.521C>A (p.Pro174His) rs146031219 0.00144
NM_002016.2(FLG):c.9740C>A (p.Ser3247Ter) rs150597413 0.00144
NM_170665.4(ATP2A2):c.2945C>T (p.Thr982Met) rs149024535 0.00144
NM_000249.4(MLH1):c.2146G>A (p.Val716Met) rs35831931 0.00143
NM_000251.3(MSH2):c.1387-8G>T rs187525243 0.00143
NM_000535.7(PMS2):c.2395C>T (p.Arg799Trp) rs149202766 0.00142
NM_002691.4(POLD1):c.2967G>A (p.Thr989=) rs3218752 0.00142
NM_000044.6(AR):c.2180G>T (p.Arg727Leu) rs137852593 0.00141
NM_000059.4(BRCA2):c.9634G>C (p.Gly3212Arg) rs55775473 0.00141
NM_001355436.2(SPTB):c.3679C>T (p.Pro1227Ser) rs149186357 0.00141
NM_005431.2(XRCC2):c.40-16T>C rs41274991 0.00141
NM_024570.4(RNASEH2B):c.529G>A (p.Ala177Thr) rs75184679 0.00141
NM_000057.4(BLM):c.2263A>G (p.Lys755Glu) rs142551229 0.00140
NM_000512.5(GALNS):c.1462G>A (p.Val488Met) rs78127134 0.00140
NM_002691.4(POLD1):c.2577C>T (p.Gly859=) rs149366027 0.00140
NM_014425.5(INVS):c.913G>A (p.Val305Ile) rs116438342 0.00140
NM_015570.4(AUTS2):c.611A>G (p.Glu204Gly) rs149961458 0.00140
NM_000051.4(ATM):c.1066-6T>G rs201686625 0.00139
NM_017559.4(FNDC8):c.121A>G (p.Met41Val) rs149433213 0.00139
NM_000059.4(BRCA2):c.2138A>T (p.Gln713Leu) rs55816687 0.00138
NM_000213.5(ITGB4):c.3112-3C>T rs151033645 0.00138
NM_000251.3(MSH2):c.1737A>G (p.Lys579=) rs61756467 0.00138
NM_001372574.1(ATXN2):c.-266C>T rs536609944 0.00138
NM_002528.7(NTHL1):c.244C>T (p.Gln82Ter) rs150766139 0.00138
NM_194454.3(KRIT1):c.*132T>G rs572414111 0.00138
NM_000044.6(AR):c.2395C>G (p.Gln799Glu) rs137852591 0.00137
NM_000051.4(ATM):c.998C>T (p.Ser333Phe) rs28904919 0.00137
NM_000540.3(RYR1):c.2797G>A (p.Ala933Thr) rs148623597 0.00137
NM_001999.4(FBN2):c.2260G>A (p.Gly754Ser) rs145259927 0.00137
NM_007294.4(BRCA1):c.2521C>T (p.Arg841Trp) rs1800709 0.00137
NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe) rs80338902 0.00137
NM_000350.3(ABCA4):c.2791G>A (p.Val931Met) rs58331765 0.00136
NM_001198800.3(ASCC1):c.869A>G (p.Asn290Ser) rs146370051 0.00135
NM_002691.4(POLD1):c.2007-4G>A rs202035484 0.00135
NM_000098.3(CPT2):c.338C>T (p.Ser113Leu) rs74315294 0.00134
NM_000492.4(CFTR):c.91C>T (p.Arg31Cys) rs1800073 0.00134
NM_001114753.3(ENG):c.1844C>T (p.Ser615Leu) rs148002300 0.00134
NM_058195.4(CDKN2A):c.194-3652G>C rs531597737 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_194248.3(OTOF):c.5063C>T (p.Thr1688Met) rs111033393 0.00133
NM_000059.4(BRCA2):c.10110G>A (p.Arg3370=) rs28897762 0.00132
NM_001330260.2(SCN8A):c.3822C>T (p.Val1274=) rs187327463 0.00132
NM_001083962.2(TCF4):c.923-27T>G rs368057502 0.00131
NM_001363711.2(DUOX2):c.1709A>T (p.Gln570Leu) rs547116063 0.00131
NM_004369.4(COL6A3):c.7258C>T (p.Arg2420Trp) rs150165484 0.00131
NM_017429.3(BCO1):c.509C>T (p.Thr170Met) rs119478057 0.00131
NM_003242.6(TGFBR2):c.1119G>A (p.Met373Ile) rs35719192 0.00130
NM_015404.4(WHRN):c.33C>G (p.Ser11Arg) rs45527543 0.00130
NM_004360.5(CDH1):c.88C>A (p.Pro30Thr) rs139866691 0.00129
NM_000059.4(BRCA2):c.-123G>T rs55641815 0.00128
NM_000181.4(GUSB):c.454G>A (p.Asp152Asn) rs149606212 0.00128
NM_000256.3(MYBPC3):c.3106C>T (p.Arg1036Cys) rs61729664 0.00128
NM_000342.4(SLC4A1):c.2716G>C (p.Glu906Gln) rs199694087 0.00128
NM_003072.5(SMARCA4):c.1419+9C>T rs374635008 0.00128
NM_000059.4(BRCA2):c.8149G>T (p.Ala2717Ser) rs28897747 0.00127
NM_001042492.3(NF1):c.7584A>G (p.Gln2528=) rs55865524 0.00127
NM_001130438.3(SPTAN1):c.1330G>A (p.Val444Ile) rs77358650 0.00127
NM_006231.4(POLE):c.296C>T (p.Pro99Leu) rs5744739 0.00127
NC_000004.12:g.1394562G>A rs77782813 0.00126
NM_000051.4(ATM):c.6176C>T (p.Thr2059Ile) rs144761622 0.00126
NM_000136.3(FANCC):c.632C>G (p.Pro211Arg) rs140781259 0.00126
NM_000454.5(SOD1):c.272A>C (p.Asp91Ala) rs80265967 0.00126
NM_004006.3(DMD):c.7183G>A (p.Ala2395Thr) rs72466590 0.00126
NM_004615.4(TSPAN7):c.515C>A (p.Pro172His) rs104894951 0.00126
NM_000051.4(ATM):c.4473C>T (p.Phe1491=) rs4988008 0.00125
NM_015443.4(KANSL1):c.2718T>G (p.Asn906Lys) rs139615350 0.00125
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_000154.2(GALK1):c.593C>T (p.Ala198Val) rs80084721 0.00124
NM_001386094.1(AGBL1):c.3044G>C (p.Cys1015Ser) rs181958589 0.00124
NM_178857.6(RP1L1):c.5959C>T (p.Gln1987Ter) rs200846354 0.00124
NM_000443.4(ABCB4):c.101C>T (p.Thr34Met) rs142794414 0.00123
NM_002473.6(MYH9):c.4198C>T (p.Arg1400Trp) rs76368635 0.00123
NM_002878.4(RAD51D):c.263+1588A>G rs180869630 0.00123
NM_002907.4(RECQL):c.1798-2A>T rs756192830 0.00123
NM_006231.4(POLE):c.861T>A (p.Asp287Glu) rs139075637 0.00122
NM_006432.5(NPC2):c.88G>A (p.Val30Met) rs151220873 0.00122
NM_194248.3(OTOF):c.2381G>A (p.Arg794His) rs80356592 0.00122
NM_000243.3(MEFV):c.124C>T (p.Arg42Trp) rs61754767 0.00121
NM_002469.3(MYF6):c.334G>T (p.Ala112Ser) rs28928909 0.00121
NM_006204.4(PDE6C):c.413T>C (p.Leu138Ser) rs139456217 0.00121
NM_024675.4(PALB2):c.2816T>G (p.Leu939Trp) rs45478192 0.00121
NM_000256.3(MYBPC3):c.1564G>A (p.Ala522Thr) rs11570082 0.00120
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_001875.5(CPS1):c.3643A>G (p.Ile1215Val) rs141373204 0.00119
NM_033380.3(COL4A5):c.2858G>T (p.Gly953Val) rs78972735 0.00119
NM_000365.6(TPI1):c.463G>A (p.Val155Met) rs188138723 0.00118
NM_000553.6(WRN):c.4216C>T (p.Arg1406Ter) rs11574410 0.00118
NM_002529.4(NTRK1):c.865C>A (p.Gln289Lys) rs137979116 0.00118
NM_002968.3(SALL1):c.3794G>A (p.Gly1265Glu) rs149302006 0.00118
NM_004463.3(FGD1):c.395G>A (p.Arg132Gln) rs145644275 0.00117
NM_007294.4(BRCA1):c.591C>T (p.Cys197=) rs1799965 0.00117
NM_014845.6(FIG4):c.122T>C (p.Ile41Thr) rs121908287 0.00117
NM_000038.6(APC):c.3920T>A (p.Ile1307Lys) rs1801155 0.00116
NM_000044.6(AR):c.1960G>A (p.Glu654Lys) rs200737258 0.00116
NM_000208.4(INSR):c.2243C>T (p.Ser748Leu) rs143523271 0.00116
NM_002878.4(RAD51D):c.146C>T (p.Ala49Val) rs140317560 0.00116
NM_002878.4(RAD51D):c.263+1509C>T rs201506572 0.00116
NM_003072.5(SMARCA4):c.76G>A (p.Ala26Thr) rs145867502 0.00116
NM_005557.4(KRT16):c.1062A>T (p.Lys354Asn) rs59328451 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_001130987.2(DYSF):c.4253C>G (p.Pro1418Arg) rs138268837 0.00115
NM_001807.6(CEL):c.2172del (p.Val725fs) rs780419796 0.00115
NM_003242.6(TGFBR2):c.1657T>A (p.Ser553Thr) rs112215250 0.00115
NM_003977.4(AIP):c.911G>A (p.Arg304Gln) rs104894190 0.00115
NM_004612.4(TGFBR1):c.457G>A (p.Val153Ile) rs56014374 0.00115
NM_000033.4(ABCD1):c.707G>A (p.Arg236His) rs201455322 0.00114
NM_000038.6(APC):c.423-17T>A rs534684461 0.00114
NM_001077365.2(POMT1):c.1545C>G (p.Ser515Arg) rs150367385 0.00114
NM_002591.4(PCK1):c.925G>A (p.Gly309Arg) rs201186470 0.00113
NM_025216.3(WNT10A):c.511C>T (p.Arg171Cys) rs116998555 0.00113
NM_032043.3(BRIP1):c.890A>G (p.Lys297Arg) rs28997570 0.00113
NM_000123.4(ERCC5):c.1768G>A (p.Val590Ile) rs4150318 0.00111
NM_014956.5(CEP164):c.4228C>T (p.Gln1410Ter) rs147398904 0.00111
NM_000044.6(AR):c.1424C>T (p.Ala475Val) rs200390780 0.00110
NM_000249.4(MLH1):c.-28A>G rs56198082 0.00110
NM_002691.4(POLD1):c.2275G>A (p.Val759Ile) rs145473716 0.00110
NM_002907.4(RECQL):c.1215A>C (p.Ala405=) rs147610182 0.00110
NM_001018113.3(FANCB):c.1769T>C (p.Phe590Ser) rs142959373 0.00109
NM_004006.3(DMD):c.7571G>A (p.Arg2524His) rs151244052 0.00109
NM_022436.3(ABCG5):c.593G>A (p.Arg198Gln) rs141828689 0.00109
NM_033109.5(PNPT1):c.1525G>A (p.Val509Ile) rs146571352 0.00109
NM_000336.3(SCNN1B):c.1152+10T>C rs72654341 0.00108
NM_000540.3(RYR1):c.11798A>G (p.Tyr3933Cys) rs147136339 0.00108
NM_004366.6(CLCN2):c.704G>A (p.Arg235Gln) rs71318369 0.00108
NM_015278.5(SASH1):c.2459G>A (p.Arg820Gln) rs144633784 0.00108
NM_058216.3(RAD51C):c.571+64C>A rs181988623 0.00108
NM_144670.6(A2ML1):c.4061+1G>A rs202067416 0.00108
NM_152222.2(RELT):c.1264C>T (p.Arg422Trp) rs139368769 0.00108
NM_000138.5(FBN1):c.2956G>A (p.Ala986Thr) rs112287730 0.00107
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_000059.4(BRCA2):c.9235G>A (p.Val3079Ile) rs55933907 0.00106
NM_000256.3(MYBPC3):c.3413G>A (p.Arg1138His) rs187705120 0.00106
NM_000271.5(NPC1):c.881+82G>A rs562046566 0.00106
NM_000492.4(CFTR):c.2900T>C (p.Leu967Ser) rs1800110 0.00106
NM_001399.5(EDA):c.458G>A (p.Arg153His) rs140642493 0.00106
NM_015215.4(CAMTA1):c.4007C>T (p.Thr1336Ile) rs137974312 0.00106
NM_139027.6(ADAMTS13):c.2708C>T (p.Ser903Leu) rs78977446 0.00106
NM_199242.3(UNC13D):c.2542A>C (p.Ile848Leu) rs144968313 0.00106
NM_199242.3(UNC13D):c.2983G>C (p.Ala995Pro) rs138760432 0.00105
NM_000540.3(RYR1):c.7025A>G (p.Asn2342Ser) rs147213895 0.00104
NM_006493.4(CLN5):c.-146T>C rs201615354 0.00104
NM_020937.4(FANCM):c.5101C>T (p.Gln1701Ter) rs147021911 0.00104
NM_032043.3(BRIP1):c.790C>T (p.Arg264Trp) rs28997569 0.00104
NM_000051.4(ATM):c.4388T>G (p.Phe1463Cys) rs138327406 0.00103
NM_000059.4(BRCA2):c.7805+23G>A rs113653200 0.00103
NM_000237.2(LPL):c.-241G>C rs540525285 0.00103
NM_000329.3(RPE65):c.394G>A (p.Ala132Thr) rs61752878 0.00103
NM_000358.3(TGFBI):c.1998G>C (p.Arg666Ser) rs121909217 0.00103
NM_002691.4(POLD1):c.3054G>A (p.Val1018=) rs369613619 0.00103
NM_006412.4(AGPAT2):c.646A>T (p.Lys216Ter) rs138994150 0.00103
NM_017534.6(MYH2):c.2270T>C (p.Ile757Thr) rs117390537 0.00103
NM_024675.4(PALB2):c.1194G>A (p.Val398=) rs61755173 0.00103
NM_000057.4(BLM):c.11T>C (p.Val4Ala) rs144706057 0.00102
NM_000059.4(BRCA2):c.6057C>T (p.Asn2019=) rs147961615 0.00102
NM_000352.6(ABCC8):c.3203C>T (p.Thr1068Met) rs139524121 0.00102
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_000051.4(ATM):c.2125-48T>C rs371067508 0.00101
NM_000540.3(RYR1):c.5036G>A (p.Arg1679His) rs146504767 0.00101
NM_000548.5(TSC2):c.275A>T (p.Glu92Val) rs137853994 0.00101
NM_001008212.2(OPTN):c.1634G>A (p.Arg545Gln) rs75654767 0.00101
NM_005263.5(GFI1):c.-14A>C rs200972824 0.00101
NC_000022.11:g.28742014G>A rs187164042 0.00100
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_006080.3(SEMA3A):c.1198A>G (p.Ile400Val) rs36026860 0.00100
NM_005245.4(FAT1):c.4358G>A (p.Arg1453His) rs186220887 0.00099
NM_016038.4(SBDS):c.184A>T (p.Lys62Ter) rs120074160 0.00099
NM_001098816.3(TENM4):c.1553G>A (p.Arg518Gln) rs201191369 0.00098
NM_002691.4(POLD1):c.1620C>T (p.Gly540=) rs140216790 0.00098
NM_004006.3(DMD):c.2261G>T (p.Gly754Val) rs151242451 0.00098
NM_004959.5(NR5A1):c.368G>C (p.Gly123Ala) rs200163795 0.00098
NM_007294.4(BRCA1):c.4883T>C (p.Met1628Thr) rs4986854 0.00098
NM_015570.4(AUTS2):c.385C>G (p.Leu129Val) rs145480547 0.00098
NM_213599.3(ANO5):c.692G>T (p.Gly231Val) rs137854523 0.00098
NM_000059.4(BRCA2):c.2883G>A (p.Gln961=) rs11571655 0.00097
NM_000179.3(MSH6):c.3802-22G>A rs373409282 0.00097
NM_001009944.3(PKD1):c.10678G>A (p.Gly3560Arg) rs79000340 0.00097
NM_002382.5(MAX):c.172-6230G>A rs148339628 0.00097
NM_000051.4(ATM):c.2289T>A (p.Phe763Leu) rs34231402 0.00096
NM_000051.4(ATM):c.6860G>C (p.Gly2287Ala) rs1800061 0.00096
NM_000059.4(BRCA2):c.1938C>T (p.Ser646=) rs28897711 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_001128425.2(MUTYH):c.36+214G>C rs568514678 0.00096
NM_001283009.2(RTEL1):c.3049G>A (p.Asp1017Asn) rs61736617 0.00096
NM_015102.5(NPHP4):c.2203C>T (p.Arg735Trp) rs191913664 0.00096
NM_201253.3(CRB1):c.2506C>A (p.Pro836Thr) rs116471343 0.00096
NM_007294.4(BRCA1):c.3022A>G (p.Met1008Val) rs56321129 0.00095
NM_000496.3(CRYBB2):c.559G>A (p.Val187Met) rs143080187 0.00094
NM_000552.5(VWF):c.5278G>A (p.Val1760Ile) rs61750604 0.00094
NM_001244008.2(KIF1A):c.2754T>G (p.Asp918Glu) rs143816642 0.00094
NM_031448.6(C19orf12):c.391A>G (p.Lys131Glu) rs146170087 0.00094
NM_000038.6(APC):c.7514G>A (p.Arg2505Gln) rs147549623 0.00093
NM_000261.2(MYOC):c.1054G>A (p.Glu352Lys) rs61745146 0.00093
NM_015506.3(MMACHC):c.271dup (p.Arg91fs) rs398124292 0.00093
NM_016042.4(EXOSC3):c.238G>T (p.Val80Phe) rs374550999 0.00093
NM_024864.5(MRM1):c.504C>G (p.Phe168Leu) rs138258458 0.00093
NM_172351.3(CD46):c.1103C>T (p.Thr368Ile) rs146803767 0.00093
NM_000057.4(BLM):c.1601A>G (p.Asn534Ser) rs35224686 0.00092
NM_000383.4(AIRE):c.901G>A (p.Val301Met) rs150634562 0.00092
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_002281.4(KRT81):c.846T>A (p.Tyr282Ter) rs138597671 0.00092
NM_024757.5(EHMT1):c.737G>A (p.Arg246Gln) rs144871446 0.00092
NM_030773.4(TUBB1):c.326G>A (p.Gly109Glu) rs41303899 0.00092
NM_000038.6(APC):c.835-24A>T rs200399868 0.00091
NM_000136.3(FANCC):c.178G>A (p.Val60Ile) rs138629441 0.00091
NM_000277.3(PAH):c.158G>A (p.Arg53His) rs118092776 0.00091
NM_000518.5(HBB):c.-79A>G rs34598529 0.00091
NM_001097577.3(ANG):c.122A>T (p.Lys41Ile) rs121909536 0.00091
NM_001127222.2(CACNA1A):c.2687C>G (p.Pro896Arg) rs121908242 0.00091
NM_012140.5(SLC25A10):c.657C>T (p.Pro219=) rs114621664 0.00091
NM_021076.4(NEFH):c.2368_2370del (p.Lys790del) rs59551486 0.00091
NM_139281.3(WDR36):c.1418G>A (p.Arg473Gln) rs116529882 0.00091
NM_000057.4(BLM):c.3592G>A (p.Val1198Met) rs142928725 0.00090
NM_000492.4(CFTR):c.1523T>G (p.Phe508Cys) rs74571530 0.00090
NM_213599.3(ANO5):c.2141C>G (p.Thr714Ser) rs200631556 0.00090
NM_000261.2(MYOC):c.1102C>T (p.Gln368Ter) rs74315329 0.00089
NM_000435.3(NOTCH3):c.3691C>T (p.Arg1231Cys) rs201680145 0.00089
NM_006891.4(CRYGD):c.181G>T (p.Gly61Cys) rs150857132 0.00089
NM_018060.4(IARS2):c.2122G>A (p.Glu708Lys) rs143722284 0.00089
NM_025216.3(WNT10A):c.208C>T (p.Arg70Trp) rs146460077 0.00089
NM_052995.2(CLRN1):c.300T>G (p.Tyr100Ter) rs121908140 0.00089
NM_000038.6(APC):c.6821C>T (p.Ala2274Val) rs34919187 0.00088
NM_000282.4(PCCA):c.1676G>T (p.Trp559Leu) rs118169528 0.00088
NM_000535.7(PMS2):c.180C>G (p.Asp60Glu) rs200313585 0.00088
NM_000535.7(PMS2):c.497T>C (p.Leu166Pro) rs116349687 0.00088
NM_002907.4(RECQL):c.1859C>G (p.Ser620Ter) rs142038240 0.00088
NM_020937.4(FANCM):c.5791C>T (p.Arg1931Ter) rs144567652 0.00088
NM_000249.4(MLH1):c.1217G>A (p.Ser406Asn) rs41294980 0.00087
NM_001165963.4(SCN1A):c.1811G>A (p.Arg604His) rs121918769 0.00087
NM_025216.3(WNT10A):c.321C>A (p.Cys107Ter) rs121908119 0.00087
NM_032444.4(SLX4):c.1372A>G (p.Lys458Glu) rs149126845 0.00087
NM_000268.4(NF2):c.1386C>T (p.Arg462=) rs138354622 0.00086
NM_000358.3(TGFBI):c.1870G>A (p.Val624Met) rs200201691 0.00086
NM_000465.4(BARD1):c.216-13A>T rs1272210676 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_001904.4(CTNNB1):c.860A>G (p.Asn287Ser) rs35288908 0.00086
NM_002528.7(NTHL1):c.274C>T (p.Arg92Cys) rs148104494 0.00086
NM_003764.4(STX11):c.616G>A (p.Glu206Lys) rs145347140 0.00086
NM_181486.4(TBX5):c.316A>G (p.Ile106Val) rs147710408 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_198578.4(LRRK2):c.2378G>T (p.Arg793Met) rs35173587 0.00085
NM_000264.5(PTCH1):c.1306G>A (p.Asp436Asn) rs142274954 0.00083
NM_000441.2(SLC26A4):c.1061T>C (p.Phe354Ser) rs111033243 0.00083
NM_000492.4(CFTR):c.443T>C (p.Ile148Thr) rs35516286 0.00083
NM_001042492.3(NF1):c.3468C>T (p.Asn1156=) rs147955381 0.00083
NM_002878.4(RAD51D):c.919G>A (p.Glu307Lys) rs115031549 0.00083
NM_003070.5(SMARCA2):c.4717G>A (p.Asp1573Asn) rs61736899 0.00083
NM_017777.4(MKS1):c.857A>G (p.Asp286Gly) rs151023718 0.00083
NM_020937.4(FANCM):c.3296G>A (p.Arg1099His) rs139382267 0.00083
NM_182961.4(SYNE1):c.25381G>A (p.Glu8461Lys) rs119103248 0.00083
NM_000059.4(BRCA2):c.978C>A (p.Ser326Arg) rs28897706 0.00082
NM_000268.4(NF2):c.1451T>C (p.Met484Thr) rs141538143 0.00082
NM_001202.6(BMP4):c.860G>A (p.Arg287His) rs121912768 0.00082
NM_002907.4(RECQL):c.395-9C>T rs560242370 0.00082
NM_004260.4(RECQL4):c.308C>T (p.Pro103Leu) rs199543866 0.00082
NM_006231.4(POLE):c.139C>T (p.Arg47Trp) rs143626223 0.00082
NM_000051.4(ATM):c.3925G>A (p.Ala1309Thr) rs149711770 0.00081
NM_001012720.2(RGR):c.454C>A (p.His152Asn) rs150808273 0.00081
NM_001048174.2(MUTYH):c.1192C>T (p.Arg398Cys) rs150792276 0.00081
NM_001110556.2(FLNA):c.4451A>G (p.Gln1484Arg) rs200130356 0.00081
NM_001292063.2(OTOG):c.385G>A (p.Val129Met) rs552304627 0.00081
NM_002693.3(POLG):c.2243G>C (p.Trp748Ser) rs113994097 0.00081
NM_004329.3(BMPR1A):c.1327C>T (p.Arg443Cys) rs35619497 0.00081
NM_004807.3(HS6ST1):c.917G>A (p.Arg306Gln) rs201307896 0.00081
NM_015506.3(MMACHC):c.316G>A (p.Glu106Lys) rs201617713 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_000321.3(RB1):c.1129A>T (p.Thr377Ser) rs146897002 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_000335.5(SCN5A):c.1714G>T (p.Ala572Ser) rs184442491 0.00079
NM_017617.5(NOTCH1):c.2080G>A (p.Glu694Lys) rs79782048 0.00079
NM_032545.4(CFC1):c.522del (p.Ala175fs) rs746231039 0.00079
NC_000015.10:g.82540460G>A rs575115395 0.00078
NM_000138.5(FBN1):c.6700G>A (p.Val2234Met) rs112084407 0.00078
NM_005631.5(SMO):c.2177G>A (p.Arg726Gln) rs142495470 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_201253.3(CRB1):c.3992G>A (p.Arg1331His) rs62636285 0.00078
NM_201596.3(CACNB2):c.641G>C (p.Ser214Thr) rs149253719 0.00078
NM_000051.4(ATM):c.2096A>G (p.Glu699Gly) rs147934285 0.00077
NM_002469.3(MYF6):c.269C>A (p.Ala90Asp) rs138296448 0.00077
NM_005491.5(MAMLD1):c.1804C>A (p.Gln602Lys) rs142908182 0.00077
NM_000350.3(ABCA4):c.5056G>A (p.Val1686Met) rs61753019 0.00076
NM_000406.3(GNRHR):c.436C>T (p.Pro146Ser) rs144900788 0.00076
NM_000545.8(HNF1A):c.92G>A (p.Gly31Asp) rs137853247 0.00076
NM_001048174.2(MUTYH):c.1424G>A (p.Gly475Glu) rs3219494 0.00076
NM_003482.4(KMT2D):c.3572C>T (p.Pro1191Leu) rs112236653 0.00076
NM_032043.3(BRIP1):c.195A>G (p.Gln65=) rs141436143 0.00076
NM_032043.3(BRIP1):c.3378A>C (p.Glu1126Asp) rs145855459 0.00076
NM_138694.4(PKHD1):c.10926G>A (p.Met3642Ile) rs78518523 0.00076
NM_000051.4(ATM):c.6988C>G (p.Leu2330Val) rs148432863 0.00075
NM_000083.3(CLCN1):c.501C>G (p.Phe167Leu) rs149729531 0.00075
NM_000321.3(RB1):c.2566G>A (p.Asp856Asn) rs149359120 0.00075
NM_000393.5(COL5A2):c.4295A>T (p.Asp1432Val) rs141777954 0.00075
NM_000500.9(CYP21A2):c.1306C>T (p.Arg436Cys) rs767333157 0.00075
NM_002485.5(NBN):c.1354A>C (p.Thr452Pro) rs141137543 0.00075
NM_052961.4(SLC26A8):c.2434G>A (p.Glu812Lys) rs142724470 0.00075
NM_000059.4(BRCA2):c.1151C>T (p.Ser384Phe) rs41293475 0.00074
NM_000059.4(BRCA2):c.1514T>C (p.Ile505Thr) rs28897708 0.00074
NM_000492.4(CFTR):c.4333G>A (p.Asp1445Asn) rs148783445 0.00074
NM_000726.5(CACNB4):c.311G>T (p.Cys104Phe) rs1805031 0.00074
NM_005327.4(HADH):c.-51delC rs574132278 0.00074
NM_016327.3(UPB1):c.977G>A (p.Arg326Gln) rs118163237 0.00074
NM_058216.3(RAD51C):c.146-8A>G rs201079501 0.00074
NM_000443.4(ABCB4):c.2144C>T (p.Thr715Ile) rs138773456 0.00073
NM_000540.3(RYR1):c.10097G>A (p.Arg3366His) rs137932199 0.00073
NM_000548.5(TSC2):c.2476C>A (p.Leu826Met) rs45517238 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_004431.5(EPHA2):c.2162G>A (p.Arg721Gln) rs116506614 0.00073
NM_005689.4(ABCB6):c.2168G>A (p.Arg723Gln) rs148211042 0.00073
NM_012062.5(DNM1L):c.1834A>T (p.Ile612Phe) rs138133550 0.00073
NM_016333.4(SRRM2):c.1037C>T (p.Ser346Phe) rs149019598 0.00073
NM_000249.4(MLH1):c.2104-11G>A rs147984696 0.00072
NM_000402.4(G6PD):c.934G>C (p.Asp312His) rs137852318 0.00072
NM_000492.4(CFTR):c.1210-11_1210-10insG rs551227135 0.00072
NM_000535.7(PMS2):c.2149G>A (p.Val717Met) rs201671325 0.00072
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_000051.4(ATM):c.1744T>C (p.Phe582Leu) rs2235006 0.00071
NM_000548.5(TSC2):c.1819G>A (p.Ala607Thr) rs45517203 0.00071
NM_001130145.3(YAP1):c.832C>T (p.Pro278Ser) rs61746398 0.00071
NM_002427.4(MMP13):c.1372C>T (p.Arg458Cys) rs142064825 0.00071
NM_004947.5(DOCK3):c.1175G>A (p.Arg392Gln) rs199600118 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_024753.5(TTC21B):c.691A>T (p.Thr231Ser) rs149925563 0.00071
NM_000138.5(FBN1):c.8176C>T (p.Arg2726Trp) rs61746008 0.00070
NM_000179.3(MSH6):c.3173-35C>T rs186475107 0.00070
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_007194.4(CHEK2):c.320-5T>A rs121908700 0.00070
NM_000180.4(GUCY2D):c.1093C>T (p.Arg365Trp) rs138836357 0.00069
NM_000503.6(EYA1):c.1460C>T (p.Ser487Leu) rs139717960 0.00069
NM_004006.3(DMD):c.10262+1G>A rs145603325 0.00069
NM_004360.5(CDH1):c.*746C>A rs140240766 0.00069
NM_012295.4(CABIN1):c.45T>G (p.Asp15Glu) rs148623569 0.00069
NM_032043.3(BRIP1):c.3459T>C (p.Asp1153=) rs4987050 0.00069
NM_000245.4(MET):c.1039G>A (p.Ala347Thr) rs200074800 0.00068
NM_000475.5(NR0B1):c.376G>A (p.Val126Met) rs193205940 0.00068
NM_000492.4(CFTR):c.2735C>T (p.Ser912Leu) rs121909034 0.00068
NM_000548.5(TSC2):c.1378G>A (p.Ala460Thr) rs137854154 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_018941.4(CLN8):c.779C>T (p.Pro260Leu) rs146579299 0.00068
NM_000179.3(MSH6):c.1526T>C (p.Val509Ala) rs63751005 0.00067
NM_001134407.3(GRIN2A):c.3827C>G (p.Ala1276Gly) rs145063086 0.00067
NM_003098.3(SNTA1):c.440C>A (p.Thr147Asn) rs141724500 0.00067
NM_007272.3(CTRC):c.217G>A (p.Ala73Thr) rs515726209 0.00067
NM_014336.5(AIPL1):c.905G>T (p.Arg302Leu) rs62637015 0.00067
NM_025216.3(WNT10A):c.649G>A (p.Asp217Asn) rs146902156 0.00067
NM_000128.4(F11):c.403G>T (p.Glu135Ter) rs121965063 0.00066
NM_000350.3(ABCA4):c.1140T>A (p.Asn380Lys) rs61748549 0.00066
NM_001042492.3(NF1):c.7595C>T (p.Ala2532Val) rs148154172 0.00066
NM_003060.4(SLC22A5):c.34G>A (p.Gly12Ser) rs139203363 0.00066
NM_004006.3(DMD):c.4233+2C>T rs147474070 0.00066
NM_005475.3(SH2B3):c.622G>C (p.Glu208Gln) rs202080221 0.00066
NM_007294.4(BRCA1):c.2733A>G (p.Gly911=) rs1800740 0.00066
NM_017514.5(PLXNA3):c.56G>A (p.Gly19Asp) rs202070666 0.00066
NM_174936.4(PCSK9):c.709C>T (p.Arg237Trp) rs148195424 0.00066
NM_000128.4(F11):c.901T>C (p.Phe301Leu) rs121965064 0.00065
NM_000540.3(RYR1):c.2122G>A (p.Asp708Asn) rs138874610 0.00065
NM_001355436.2(SPTB):c.2519G>A (p.Arg840His) rs146326769 0.00065
NM_006231.4(POLE):c.3046G>A (p.Val1016Met) rs147692158 0.00065
NM_007294.4(BRCA1):c.3024G>A (p.Met1008Ile) rs1800704 0.00065
NM_007294.4(BRCA1):c.981A>G (p.Thr327=) rs1800063 0.00065
NM_015375.3(DSTYK):c.86G>A (p.Arg29Gln) rs200780796 0.00065
NM_000179.3(MSH6):c.663A>C (p.Glu221Asp) rs41557217 0.00064
NM_000518.4(HBB):c.208G>A (p.Gly70Ser) rs33947415 0.00064
NM_001110792.2(MECP2):c.626C>T (p.Thr209Met) rs61749714 0.00064
NM_004360.5(CDH1):c.2520C>T (p.Ser840=) rs140328601 0.00064
NM_006579.3(EBP):c.511C>T (p.Arg171Cys) rs141925556 0.00064
NM_007294.4(BRCA1):c.3302G>A (p.Ser1101Asn) rs41293447 0.00064
NM_013275.6(ANKRD11):c.136G>A (p.Asp46Asn) rs144947610 0.00064
NM_000251.3(MSH2):c.55T>C (p.Phe19Leu) rs141711342 0.00063
NM_000256.3(MYBPC3):c.3682C>T (p.Arg1228Cys) rs201312636 0.00063
NM_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_005861.4(STUB1):c.433A>C (p.Lys145Gln) rs146251364 0.00063
NM_006231.4(POLE):c.4057A>G (p.Ser1353Gly) rs141619382 0.00063
NM_006348.5(COG5):c.1826T>C (p.Ile609Thr) rs142433421 0.00063
NM_007325.5(GRIA3):c.1181G>A (p.Arg394Gln) rs138817389 0.00063
NM_017563.5(IL17RD):c.392A>C (p.Lys131Thr) rs184758350 0.00063
NM_030665.4(RAI1):c.3650G>A (p.Arg1217Gln) rs142415050 0.00063
NM_207122.2(EXT2):c.1760C>T (p.Thr587Met) rs138495222 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_000249.4(MLH1):c.375A>G (p.Ala125=) rs1800144 0.00062
NM_002691.4(POLD1):c.455C>T (p.Ala152Val) rs41563714 0.00062
NM_002840.5(PTPRF):c.5190C>A (p.His1730Gln) rs145235828 0.00062
NM_004667.6(HERC2):c.9283G>T (p.Ala3095Ser) rs142753406 0.00062
NM_005228.5(EGFR):c.3467A>C (p.His1156Pro) rs149174093 0.00062
NM_012268.4(PLD3):c.851A>G (p.Asn284Ser) rs200274020 0.00062
NM_017780.4(CHD7):c.7595C>T (p.Thr2532Met) rs201032343 0.00062
NM_025216.3(WNT10A):c.1087A>C (p.Asn363His) rs34972707 0.00062
NM_000238.4(KCNH2):c.1039C>T (p.Pro347Ser) rs138776684 0.00061
NM_000238.4(KCNH2):c.526C>T (p.Arg176Trp) rs36210422 0.00061
NM_000245.4(MET):c.467C>T (p.Ser156Leu) rs56311081 0.00061
NM_000249.4(MLH1):c.1039-7_1040del rs1559551447 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_001378120.1(MBD5):c.236G>A (p.Gly79Glu) rs34995577 0.00061
NM_001378615.1(CC2D2A):c.2161C>T (p.Pro721Ser) rs199768782 0.00061
NM_020041.3(SLC2A9):c.646G>A (p.Gly216Arg) rs561633150 0.00061
NM_031935.3(HMCN1):c.15614G>A (p.Arg5205His) rs150188026 0.00061
NM_000033.4(ABCD1):c.757C>G (p.Leu253Val) rs150151955 0.00060
NM_000455.5(STK11):c.945G>A (p.Pro315=) rs376329042 0.00060
NM_002691.4(POLD1):c.883G>A (p.Val295Met) rs199545019 0.00060
NM_007294.4(BRCA1):c.1487G>A (p.Arg496His) rs28897677 0.00060
NM_198578.4(LRRK2):c.5606T>C (p.Met1869Thr) rs35602796 0.00060
NM_000179.3(MSH6):c.1508C>G (p.Ser503Cys) rs63750897 0.00059
NM_000492.4(CFTR):c.890G>A (p.Arg297Gln) rs143486492 0.00059
NM_000535.7(PMS2):c.86G>C (p.Gly29Ala) rs146176004 0.00059
NM_001715.3(BLK):c.1075C>T (p.Arg359Cys) rs146505280 0.00059
NM_001927.4(DES):c.934G>A (p.Asp312Asn) rs34337334 0.00059
NM_002485.5(NBN):c.1777C>G (p.Pro593Ala) rs146989944 0.00059
NM_002485.5(NBN):c.788T>C (p.Phe263Ser) rs147626427 0.00059
NM_007294.4(BRCA1):c.4691T>C (p.Leu1564Pro) rs56119278 0.00059
NM_022124.6(CDH23):c.7823G>A (p.Arg2608His) rs202052174 0.00059
NM_000245.4(MET):c.406G>A (p.Val136Ile) rs199701987 0.00058
NM_000492.4(CFTR):c.3717+45G>A rs145743767 0.00058
NM_000531.6(OTC):c.298+5G>C rs72554348 0.00058
NM_001042492.3(NF1):c.2033C>T (p.Pro678Leu) rs17881753 0.00058
NM_001099274.3(TINF2):c.841G>A (p.Glu281Lys) rs199422322 0.00058
NM_004004.6(GJB2):c.167del (p.Leu56fs) rs80338942 0.00058
NM_007294.4(BRCA1):c.5348T>C (p.Met1783Thr) rs55808233 0.00058
NM_144997.7(FLCN):c.871+47G>A rs142934950 0.00058
NM_198578.4(LRRK2):c.7153G>A (p.Gly2385Arg) rs34778348 0.00058
NM_000277.3(PAH):c.1208C>T (p.Ala403Val) rs5030857 0.00057
NM_001182.5(ALDH7A1):c.34del (p.Ala12fs) rs750693623 0.00057
NM_004360.5(CDH1):c.2439+10C>T rs35236080 0.00057
NM_004369.4(COL6A3):c.7447A>G (p.Lys2483Glu) rs139260335 0.00057
NM_022787.4(NMNAT1):c.37G>A (p.Ala13Thr) rs138613460 0.00057
NM_000038.6(APC):c.3173A>G (p.Asp1058Gly) rs148725540 0.00056
NM_000038.6(APC):c.4336G>A (p.Ala1446Thr) rs146572883 0.00056
NM_000051.4(ATM):c.6543G>T (p.Glu2181Asp) rs138828590 0.00056
NM_000051.4(ATM):c.7313C>T (p.Thr2438Ile) rs147604227 0.00056
NM_000057.4(BLM):c.968A>G (p.Lys323Arg) rs146504061 0.00056
NM_000069.3(CACNA1S):c.5049-2A>G rs148989517 0.00056
NM_000077.5(CDKN2A):c.150+280C>T rs150201743 0.00056
NM_000313.4(PROS1):c.76+7A>G rs201928951 0.00056
NM_002691.4(POLD1):c.1138-8A>G rs41544624 0.00056
NM_005236.3(ERCC4):c.16C>T (p.Pro6Ser) rs61760160 0.00056
NM_016953.4(PDE11A):c.1973A>G (p.Tyr658Cys) rs77597060 0.00056
NM_018451.5(CENPJ):c.2462C>T (p.Thr821Met) rs144938364 0.00056
NM_020975.6(RET):c.262A>G (p.Ile88Val) rs141679950 0.00056
NM_020975.6(RET):c.833C>A (p.Thr278Asn) rs35118262 0.00056
NM_130837.3(OPA1):c.1311A>G (p.Ile437Met) rs143319805 0.00056
NM_206933.4(USH2A):c.12343C>T (p.Arg4115Cys) rs111033275 0.00056
NM_206933.4(USH2A):c.4758+3A>G rs117798425 0.00056
NM_000245.4(MET):c.71G>A (p.Gly24Glu) rs180985111 0.00055
NM_000256.3(MYBPC3):c.13G>C (p.Gly5Arg) rs201278114 0.00055
NM_000702.4(ATP1A2):c.1474G>A (p.Glu492Lys) rs142348542 0.00055
NM_001330311.2(DVL1):c.1502G>C (p.Cys501Ser) rs139708222 0.00055
NM_002907.4(RECQL):c.406G>A (p.Val136Ile) rs138278747 0.00055
NM_032409.3(PINK1):c.558G>C (p.Lys186Asn) rs143204084 0.00055
NM_198578.4(LRRK2):c.6566A>G (p.Tyr2189Cys) rs35658131 0.00055
NM_000059.4(BRCA2):c.1964C>G (p.Pro655Arg) rs28897712 0.00054
NM_000059.4(BRCA2):c.2803G>A (p.Asp935Asn) rs28897716 0.00054
NM_001366385.1(CARD14):c.1772C>T (p.Thr591Met) rs200102454 0.00054
NM_002016.2(FLG):c.6109C>T (p.Arg2037Ter) rs200002200 0.00054
NM_003742.4(ABCB11):c.1772A>G (p.Asn591Ser) rs11568367 0.00054
NM_014588.6(VSX1):c.766G>T (p.Ala256Ser) rs74315435 0.00054
NM_000051.4(ATM):c.4424A>G (p.Tyr1475Cys) rs34640941 0.00053
NM_000053.4(ATP7B):c.1993A>G (p.Met665Val) rs146303208 0.00053
NM_000059.4(BRCA2):c.7435+6G>A rs81002852 0.00053
NM_000251.3(MSH2):c.1563T>C (p.Tyr521=) rs63750330 0.00053
NM_000455.5(STK11):c.426C>T (p.Ser142=) rs758448869 0.00053
NM_000463.3(UGT1A1):c.1091C>T (p.Pro364Leu) rs34946978 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_004817.4(TJP2):c.143T>C (p.Val48Ala) rs121918299 0.00053
NM_012140.5(SLC25A10):c.763-37G>A rs200706742 0.00053
NM_031276.3(TEX11):c.466A>G (p.Met156Val) rs143246552 0.00053
NM_172201.2(KCNE2):c.40G>A (p.Val14Ile) rs142153692 0.00053
NM_000032.5(ALAS2):c.653G>A (p.Arg218His) rs185504937 0.00052
NM_006260.5(DNAJC3):c.206A>G (p.Asp69Gly) rs148990795 0.00052
NM_000051.4(ATM):c.8592C>T (p.Tyr2864=) rs56025670 0.00051
NM_000136.3(FANCC):c.934A>G (p.Ile312Val) rs1800366 0.00051
NM_000342.4(SLC4A1):c.2603C>T (p.Pro868Leu) rs121912759 0.00051
NM_000455.5(STK11):c.1211C>T (p.Ser404Phe) rs200078204 0.00051
NM_000546.6(TP53):c.783-33T>C rs113302588 0.00051
NM_001048174.2(MUTYH):c.841C>T (p.Arg281Cys) rs138089183 0.00051
NM_002150.3(HPD):c.1005C>G (p.Ile335Met) rs137852868 0.00051
NM_003361.4(UMOD):c.1406C>T (p.Thr469Met) rs143583842 0.00051
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_014516.4(CNOT3):c.910G>A (p.Gly304Ser) rs149108037 0.00051
NM_020975.6(RET):c.405C>T (p.Gly135=) rs142345108 0.00051
NM_024675.4(PALB2):c.23C>T (p.Pro8Leu) rs150390726 0.00051
NM_206933.4(USH2A):c.7068T>G (p.Asn2356Lys) rs200038092 0.00051
NM_000122.2(ERCC3):c.1828-36C>T rs113416031 0.00050
NM_000257.4(MYH7):c.2890G>C (p.Val964Leu) rs45496496 0.00050
NM_001283009.2(RTEL1):c.971G>A (p.Arg324His) rs113684274 0.00050
NM_001378902.1(ROS1):c.1121G>C (p.Gly374Ala) rs61743088 0.00050
NM_004752.4(GCM2):c.1181A>C (p.Tyr394Ser) rs142287570 0.00050
NM_005245.4(FAT1):c.8963A>T (p.Lys2988Ile) rs74986565 0.00050
NM_006363.6(SEC23B):c.74C>A (p.Pro25His) rs6045440 0.00050
NM_198578.4(LRRK2):c.4111A>G (p.Ile1371Val) rs17466213 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_001142800.2(EYS):c.3250A>C (p.Thr1084Pro) rs778646190 0.00049
NM_001142800.2(EYS):c.4402G>C (p.Asp1468His) rs778752557 0.00049
NM_001211.6(BUB1B):c.1649G>A (p.Arg550Gln) rs28989187 0.00049
NM_001371623.1(TCOF1):c.1552G>A (p.Gly518Arg) rs201537012 0.00049
NM_005429.5(VEGFC):c.553-15G>T rs370267488 0.00049
NM_015909.4(NBAS):c.5465A>C (p.Asn1822Thr) rs199717686 0.00049
NM_201253.3(CRB1):c.614T>C (p.Ile205Thr) rs62645749 0.00049
NM_206933.4(USH2A):c.11927C>T (p.Thr3976Met) rs142381713 0.00049
NM_000038.6(APC):c.295C>T (p.Arg99Trp) rs139196838 0.00048
NM_000059.4(BRCA2):c.631+25C>T rs367871824 0.00048
NM_000059.4(BRCA2):c.7544C>T (p.Thr2515Ile) rs28897744 0.00048
NM_000059.4(BRCA2):c.7994A>G (p.Asp2665Gly) rs28897745 0.00048
NM_000179.3(MSH6):c.2667G>T (p.Gln889His) rs149945495 0.00048
NM_000363.5(TNNI3):c.235C>T (p.Arg79Cys) rs3729712 0.00048
NM_000402.4(G6PD):c.632A>T (p.Asp211Val) rs5030872 0.00048
NM_001009944.3(PKD1):c.4563T>C (p.Gly1521=) rs143843155 0.00048
NM_001080413.3(NOBOX):c.1112A>C (p.Lys371Thr) rs189306575 0.00048
NM_001105247.2(ARMC5):c.1371-3C>A rs200655247 0.00048
NM_001370259.2(MEN1):c.*470A>G rs778272737 0.00048
NM_002834.5(PTPN11):c.1658C>T (p.Thr553Met) rs148176616 0.00048
NM_005022.4(PFN1):c.350A>G (p.Glu117Gly) rs140547520 0.00048
NM_006514.4(SCN10A):c.3674T>C (p.Ile1225Thr) rs139638446 0.00048
NM_022725.4(FANCF):c.241G>T (p.Ala81Ser) rs145057187 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_000455.5(STK11):c.1185A>G (p.Thr395=) rs370207155 0.00047
NM_002485.5(NBN):c.628G>T (p.Val210Phe) rs61754796 0.00047
NM_006231.4(POLE):c.5659G>A (p.Val1887Met) rs114119067 0.00047
NM_006514.4(SCN10A):c.4984G>A (p.Gly1662Ser) rs151090729 0.00047
NM_015909.4(NBAS):c.5467A>T (p.Ile1823Phe) rs201084909 0.00047
NM_020975.6(RET):c.3112A>G (p.Thr1038Ala) rs201740483 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_000085.5(CLCNKB):c.656-31del rs751608665 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_000402.4(G6PD):c.1466G>T (p.Arg489Leu) rs72554665 0.00046
NM_000487.6(ARSA):c.465+1G>A rs80338815 0.00046
NM_000492.4(CFTR):c.274-6T>C rs371315549 0.00046
NM_000492.4(CFTR):c.601G>A (p.Val201Met) rs138338446 0.00046
NM_001130987.2(DYSF):c.5143G>T (p.Ala1715Ser) rs141137410 0.00046
NM_001370658.1(BTD):c.1308A>C (p.Gln436His) rs80338685 0.00046
NM_002025.4(AFF2):c.3088A>C (p.Ile1030Leu) rs149653283 0.00046
NM_002421.4(MMP1):c.1389G>A (p.Trp463Ter) rs117105447 0.00046
NM_006218.4(PIK3CA):c.1747-9C>T rs201779641 0.00046
NM_006231.4(POLE):c.1337G>A (p.Arg446Gln) rs151273553 0.00046
NM_013275.6(ANKRD11):c.5632T>C (p.Ser1878Pro) rs143743958 0.00046
NM_017763.6(RNF43):c.575C>T (p.Pro192Leu) rs139557480 0.00046
NM_025114.4(CEP290):c.4813-2A>G rs369523378 0.00046
NM_032119.4(ADGRV1):c.1849G>A (p.Val617Met) rs199988872 0.00046
NM_000059.4(BRCA2):c.7976+12G>A rs81002827 0.00045
NM_000245.4(MET):c.959C>T (p.Ala320Val) rs35776110 0.00045
NM_000492.4(CFTR):c.509G>A (p.Arg170His) rs1800079 0.00045
NM_001004127.2(ALG11):c.-23C>T rs201534348 0.00045
NM_001018115.3(FANCD2):c.182C>T (p.Thr61Met) rs35110529 0.00045
NM_001048174.2(MUTYH):c.914-9C>T rs3219488 0.00045
NM_001382430.1(AKT1):c.138C>A (p.Asp46Glu) rs146875699 0.00045
NM_002016.2(FLG):c.12064A>T (p.Lys4022Ter) rs146466242 0.00045
NM_002485.5(NBN):c.-26G>A rs201392451 0.00045
NM_002691.4(POLD1):c.2052G>C (p.Gln684His) rs144143245 0.00045
NM_002907.4(RECQL):c.1088A>G (p.Asn363Ser) rs138663409 0.00045
NM_015559.3(SETBP1):c.3962G>A (p.Arg1321His) rs149638556 0.00045
NM_139281.3(WDR36):c.889G>T (p.Ala297Ser) rs142687756 0.00045
NM_000051.4(ATM):c.3342G>A (p.Lys1114=) rs138393322 0.00044
NM_000059.4(BRCA2):c.4585G>A (p.Gly1529Arg) rs28897728 0.00044
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_001276345.2(TNNT2):c.862C>T (p.Arg288Cys) rs121964857 0.00044
NM_002473.6(MYH9):c.3340T>C (p.Ser1114Pro) rs200901330 0.00044
NM_004260.4(RECQL4):c.3143A>G (p.Lys1048Arg) rs202203322 0.00044
NM_024426.6(WT1):c.1063T>C (p.Cys355Arg) rs142059681 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_000226.4(KRT9):c.1216T>C (p.Cys406Arg) rs77688767 0.00043
NM_000251.3(MSH2):c.1680T>C (p.Asn560=) rs200056411 0.00043
NM_000260.4(MYO7A):c.19G>A (p.Gly7Arg) rs372509310 0.00043
NM_000492.4(CFTR):c.958T>G (p.Leu320Val) rs144476686 0.00043
NM_001122659.3(EDNRB):c.-26G>A rs2070591 0.00043
NM_001358530.2(MOCS1):c.1015C>T (p.Arg339Trp) rs148579886 0.00043
NM_001846.4(COL4A2):c.4987G>A (p.Gly1663Ser) rs12877501 0.00043
NM_004655.4(AXIN2):c.733C>T (p.Pro245Ser) rs62640028 0.00043
NM_014314.4(RIGI):c.2272G>T (p.Glu758Ter) rs553716308 0.00043
NM_017636.4(TRPM4):c.1744G>A (p.Gly582Ser) rs172149856 0.00043
NM_000048.4(ASL):c.392C>T (p.Thr131Met) rs143793815 0.00042
NM_000891.3(KCNJ2):c.1229A>G (p.Asn410Ser) rs141069645 0.00042
NM_001134407.3(GRIN2A):c.2852G>T (p.Gly951Val) rs139795367 0.00042
NM_001193313.2(SUGCT):c.478A>C (p.Ile160Leu) rs138102615 0.00042
NM_006013.5(RPL10):c.628C>T (p.Arg210Trp) rs979369776 0.00042
NM_017636.4(TRPM4):c.1294G>A (p.Ala432Thr) rs201907325 0.00042
NM_024417.5(FDXR):c.1252G>A (p.Gly418Ser) rs141101303 0.00042
NM_000053.4(ATP7B):c.1934T>G (p.Met645Arg) rs121907998 0.00041
NM_000245.4(MET):c.103A>T (p.Met35Leu) rs375353223 0.00041
NM_000249.4(MLH1):c.702G>A (p.Glu234=) rs35908749 0.00041
NM_000249.4(MLH1):c.884+39G>A rs370283452 0.00041
NM_000335.5(SCN5A):c.694G>A (p.Val232Ile) rs45471994 0.00041
NM_000492.4(CFTR):c.2249C>T (p.Pro750Leu) rs140455771 0.00041
NM_000535.7(PMS2):c.936G>A (p.Met312Ile) rs139194813 0.00041
NM_000545.8(HNF1A):c.965A>G (p.Tyr322Cys) rs140491072 0.00041
NM_001048174.2(MUTYH):c.1174C>A (p.Leu392Met) rs144079536 0.00041
NM_001371279.1(REEP1):c.844G>A (p.Glu282Lys) rs189652973 0.00041
NM_002878.4(RAD51D):c.932T>A (p.Ile311Asn) rs145309168 0.00041
NM_004646.4(NPHS1):c.1802G>C (p.Gly601Ala) rs114615449 0.00041
NM_006231.4(POLE):c.1015G>A (p.Asp339Asn) rs149029910 0.00041
NM_012295.4(CABIN1):c.1468C>T (p.Arg490Cys) rs201606398 0.00041
NM_014251.3(SLC25A13):c.2T>C (p.Met1Thr) rs541276426 0.00041
NM_032043.3(BRIP1):c.2220G>T (p.Gln740His) rs45589637 0.00041
NM_000038.6(APC):c.2805C>T (p.Tyr935=) rs137854575 0.00040
NM_000169.3(GLA):c.352C>T (p.Arg118Cys) rs148158093 0.00040
NM_000249.4(MLH1):c.198C>T (p.Thr66=) rs61751642 0.00040
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_004628.5(XPC):c.749A>G (p.Asp250Gly) rs201247727 0.00040
NM_006231.4(POLE):c.2171C>T (p.Ala724Val) rs61734163 0.00040
NM_007194.4(CHEK2):c.319+3966G>A rs137926355 0.00040
NM_007294.4(BRCA1):c.4675+55A>G rs934064952 0.00040
NM_199242.3(UNC13D):c.1228A>C (p.Ile410Leu) rs117221419 0.00040
NM_000018.4(ACADVL):c.1591C>T (p.Arg531Trp) rs146379816 0.00039
NM_000038.6(APC):c.2847G>T (p.Met949Ile) rs147394539 0.00039
NM_000059.4(BRCA2):c.516+54T>C rs368799999 0.00039
NM_000161.3(GCH1):c.671A>G (p.Lys224Arg) rs41298442 0.00039
NM_000169.3(GLA):c.427G>A (p.Ala143Thr) rs104894845 0.00039
NM_000245.4(MET):c.2715C>T (p.Ser905=) rs45572835 0.00039
NM_000492.4(CFTR):c.1210-12_1210-11insG rs4148705 0.00039
NM_000492.4(CFTR):c.3154T>G (p.Phe1052Val) rs150212784 0.00039
NM_000551.4(VHL):c.241C>T (p.Pro81Ser) rs104893829 0.00039
NM_001127222.2(CACNA1A):c.5897G>A (p.Arg1966Gln) rs199886234 0.00039
NM_001205019.2(GK):c.259+1255G>A rs766772846 0.00039
NM_001370658.1(BTD):c.451G>A (p.Ala151Thr) rs13073139 0.00039
NM_001384140.1(PCDH15):c.2884C>T (p.Arg962Cys) rs201816080 0.00039
NM_001387430.1(SH2B1):c.1846T>C (p.Ser616Pro) rs142515048 0.00039
NM_002354.2(EPCAM):c.*362A>G rs539981178 0.00039
NM_007294.4(BRCA1):c.301+146A>C rs571713225 0.00039
NM_020442.6(VARS2):c.1168G>A (p.Ala390Thr) rs202201763 0.00039
NM_020975.6(RET):c.1946C>T (p.Ser649Leu) rs148935214 0.00039
NM_144773.4(PROKR2):c.889G>A (p.Val297Ile) rs139399061 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_201548.5(CERKL):c.769C>T (p.Arg257Ter) rs121909398 0.00039
NM_000018.4(ACADVL):c.1894C>T (p.Arg632Cys) rs151254520 0.00038
NM_000038.6(APC):c.5690A>C (p.His1897Pro) rs112610898 0.00038
NM_000044.6(AR):c.1792A>G (p.Ser598Gly) rs142280455 0.00038
NM_000051.4(ATM):c.3403-14A>T rs941737393 0.00038
NM_000051.4(ATM):c.7390T>C (p.Cys2464Arg) rs55801750 0.00038
NM_000077.5(CDKN2A):c.298G>T (p.Ala100Ser) rs200863613 0.00038
NM_000077.5(CDKN2A):c.457+83C>T rs560686386 0.00038
NM_000136.3(FANCC):c.1374A>C (p.Arg458Ser) rs56394801 0.00038
NM_000216.4(ANOS1):c.1187C>T (p.Ser396Leu) rs137852517 0.00038
NM_000251.3(MSH2):c.1511-41G>C rs202215396 0.00038
NM_000256.3(MYBPC3):c.3787C>T (p.Arg1263Trp) rs370338674 0.00038
NM_000492.4(CFTR):c.2620-6T>C rs371315682 0.00038
NM_000492.4(CFTR):c.3080T>C (p.Ile1027Thr) rs1800112 0.00038
NM_001015880.2(PAPSS2):c.809G>A (p.Gly270Asp) rs138943074 0.00038
NM_001379081.2(FREM1):c.4499A>T (p.Glu1500Val) rs281875280 0.00038
NM_004360.5(CDH1):c.808T>G (p.Ser270Ala) rs587776399 0.00038
NM_014249.4(NR2E3):c.119-2A>C rs2723341 0.00038
NM_014915.3(ANKRD26):c.-113A>C rs886046949 0.00038
NM_022455.5(NSD1):c.4892A>G (p.Lys1631Arg) rs201857437 0.00038
NM_032444.4(SLX4):c.467C>A (p.Thr156Lys) rs144614070 0.00038
NM_000179.3(MSH6):c.1932G>C (p.Arg644Ser) rs34938432 0.00037
NM_000249.4(MLH1):c.977T>C (p.Val326Ala) rs63751049 0.00037
NM_002878.4(RAD51D):c.26G>C (p.Cys9Ser) rs140825795 0.00037
NM_002907.4(RECQL):c.401C>T (p.Thr134Ile) rs150306543 0.00037
NM_002907.4(RECQL):c.809G>A (p.Cys270Tyr) rs149763880 0.00037
NM_003738.5(PTCH2):c.1780G>A (p.Ala594Thr) rs147669300 0.00037
NM_032119.4(ADGRV1):c.6559A>G (p.Ile2187Val) rs200512504 0.00037
NM_000038.6(APC):c.6857C>T (p.Ala2286Val) rs200587641 0.00036
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_000350.3(ABCA4):c.5714+5G>A rs61751407 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_002025.4(AFF2):c.2780G>A (p.Arg927His) rs140927355 0.00036
NM_002471.4(MYH6):c.4136C>T (p.Thr1379Met) rs145611185 0.00036
NM_002734.5(PRKAR1A):c.221G>A (p.Arg74His) rs200069356 0.00036
NM_004281.3(BAG3):c.772C>T (p.Arg258Trp) rs117671123 0.00036
NM_004667.6(HERC2):c.11541T>G (p.Phe3847Leu) rs377666529 0.00036
NM_004850.5(ROCK2):c.1802A>T (p.Asp601Val) rs35768389 0.00036
NM_005236.3(ERCC4):c.2677A>G (p.Asn893Asp) rs201926295 0.00036
NM_032444.4(SLX4):c.2654C>T (p.Pro885Leu) rs147492092 0.00036
NM_198578.4(LRRK2):c.6055G>A (p.Gly2019Ser) rs34637584 0.00036
NM_000051.4(ATM):c.6919C>T (p.Leu2307Phe) rs56009889 0.00035
NM_000059.4(BRCA2):c.9924C>T (p.Tyr3308=) rs4987049 0.00035
NM_000091.5(COL4A3):c.3829G>A (p.Gly1277Ser) rs190598500 0.00035
NM_000158.4(GBE1):c.2056T>C (p.Tyr686His) rs754607405 0.00035
NM_000161.3(GCH1):c.206C>T (p.Pro69Leu) rs56127440 0.00035
NM_000208.4(INSR):c.151G>A (p.Glu51Lys) rs140852238 0.00035
NM_000256.3(MYBPC3):c.1855G>A (p.Glu619Lys) rs200352299 0.00035
NM_001048174.2(MUTYH):c.850-2A>G rs77542170 0.00035
NM_003579.4(RAD54L):c.888C>T (p.Asp296=) rs145556724 0.00035
NM_006231.4(POLE):c.2602C>T (p.Leu868=) rs115830215 0.00035
NM_024675.4(PALB2):c.1470C>T (p.Pro490=) rs45612837 0.00035
NM_032444.4(SLX4):c.5248G>T (p.Ala1750Ser) rs771897046 0.00035
NM_000038.6(APC):c.607C>G (p.Gln203Glu) rs141576417 0.00034
NM_000051.4(ATM):c.2932T>C (p.Ser978Pro) rs139552233 0.00034
NM_000051.4(ATM):c.4402G>A (p.Val1468Ile) rs369903995 0.00034
NM_000059.4(BRCA2):c.322A>C (p.Asn108His) rs80358567 0.00034
NM_000138.5(FBN1):c.4270C>G (p.Pro1424Ala) rs201273753 0.00034
NM_000151.4(G6PC1):c.247C>T (p.Arg83Cys) rs1801175 0.00034
NM_000243.3(MEFV):c.2292G>T (p.Gly764=) rs142352887 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_000492.4(CFTR):c.1327G>T (p.Asp443Tyr) rs147422190 0.00034
NM_001011658.4(TRAPPC2):c.-97G>A rs746032983 0.00034
NM_001042492.3(NF1):c.2850+17T>C rs1410636379 0.00034
NM_001110792.2(MECP2):c.623C>G (p.Thr208Ser) rs61749713 0.00034
NM_001114753.3(ENG):c.640G>A (p.Gly214Ser) rs150932144 0.00034
NM_001379270.1(CNGA1):c.1259G>A (p.Arg420Gln) rs192912733 0.00034
NM_002691.4(POLD1):c.1092G>C (p.Leu364=) rs139883454 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_003999.3(OSMR):c.1538G>A (p.Gly513Asp) rs202145435 0.00034
NM_005228.5(EGFR):c.3629C>T (p.Ala1210Val) rs35918369 0.00034
NM_005475.3(SH2B3):c.794G>A (p.Arg265Gln) rs149554298 0.00034
NM_006231.4(POLE):c.1534G>A (p.Ala512Thr) rs113998091 0.00034
NM_007194.4(CHEK2):c.1312G>T (p.Asp438Tyr) rs200050883 0.00034
NM_007294.4(BRCA1):c.1456T>C (p.Phe486Leu) rs55906931 0.00034
NM_014444.5(TUBGCP4):c.1746G>T (p.Leu582=) rs200092283 0.00034
NM_017534.6(MYH2):c.2414T>C (p.Val805Ala) rs200662973 0.00034
NM_020975.6(RET):c.1158G>A (p.Ala386=) rs373540097 0.00034
NM_021870.3(FGG):c.124G>A (p.Gly42Ser) rs202132393 0.00034
NM_024426.6(WT1):c.662-6C>A rs372418954 0.00034
NM_032043.3(BRIP1):c.1735C>T (p.Arg579Cys) rs28997571 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_000093.5(COL5A1):c.3991G>A (p.Asp1331Asn) rs545973022 0.00033
NM_000251.3(MSH2):c.2154A>G (p.Gln718=) rs63750810 0.00033
NM_000492.4(CFTR):c.3454G>C (p.Asp1152His) rs75541969 0.00033
NM_000540.3(RYR1):c.1453A>G (p.Met485Val) rs147723844 0.00033
NM_001127701.1(SERPINA1):c.839A>T (p.Asp280Val) rs121912714 0.00033
NM_001267550.2(TTN):c.45599C>G (p.Ala15200Gly) rs201057307 0.00033
NM_002485.5(NBN):c.425A>G (p.Asn142Ser) rs769414 0.00033
NM_002693.3(POLG):c.2890C>T (p.Arg964Cys) rs201477273 0.00033
NM_004817.4(TJP2):c.3371C>T (p.Thr1124Met) rs376663560 0.00033
NM_006514.4(SCN10A):c.281T>G (p.Val94Gly) rs202143516 0.00033
NM_032977.4(CASP10):c.1202_1208del (p.Cys401fs) rs747900630 0.00033
NM_000038.6(APC):c.2232T>G (p.Ser744=) rs145751759 0.00032
NM_000051.4(ATM):c.2494C>T (p.Arg832Cys) rs2229022 0.00032
NM_000057.4(BLM):c.3041A>G (p.His1014Arg) rs145022945 0.00032
NM_000059.4(BRCA2):c.223G>C (p.Ala75Pro) rs28897701 0.00032
NM_000059.4(BRCA2):c.8187G>T (p.Lys2729Asn) rs80359065 0.00032
NM_000243.3(MEFV):c.926C>T (p.Thr309Met) rs104895155 0.00032
NM_000314.8(PTEN):c.802-34C>A rs531071483 0.00032
NM_000428.3(LTBP2):c.1295C>T (p.Pro432Leu) rs137854861 0.00032
NM_000536.4(RAG2):c.644C>T (p.Thr215Ile) rs35691292 0.00032
NM_000554.6(CRX):c.425A>G (p.Tyr142Cys) rs61748442 0.00032
NM_001009944.3(PKD1):c.9829C>T (p.Arg3277Cys) rs148812376 0.00032
NM_001042492.3(NF1):c.1933A>G (p.Met645Val) rs146051850 0.00032
NM_001371928.1(AHDC1):c.4585C>T (p.Arg1529Cys) rs200178921 0.00032
NM_002772.3(TMPRSS15):c.1428+2T>G rs138221037 0.00032
NM_003466.4(PAX8):c.215G>A (p.Arg72Gln) rs769138605 0.00032
NM_007194.4(CHEK2):c.1427C>T (p.Thr476Met) rs142763740 0.00032
NM_007294.4(BRCA1):c.1036C>T (p.Pro346Ser) rs80357015 0.00032
NM_007294.4(BRCA1):c.4186-128A>T rs528390541 0.00032
NM_014053.4(FLVCR1):c.1092+5G>A rs556788423 0.00032
NM_000020.3(ACVRL1):c.88C>T (p.Pro30Ser) rs149664056 0.00031
NM_000036.3(AMPD1):c.1274G>A (p.Arg425His) rs121912682 0.00031
NM_000038.6(APC):c.7490C>T (p.Ser2497Leu) rs141010008 0.00031
NM_000051.4(ATM):c.7740A>C (p.Arg2580Ser) rs199915459 0.00031
NM_000057.4(BLM):c.3625T>A (p.Ser1209Thr) rs1801256 0.00031
NM_000251.3(MSH2):c.435T>G (p.Ile145Met) rs63750124 0.00031
NM_000295.5(SERPINA1):c.1177C>T (p.Pro393Ser) rs61761869 0.00031
NM_000492.4(CFTR):c.2079T>G (p.Phe693Leu) rs145540754 0.00031
NM_000548.5(TSC2):c.3430G>A (p.Val1144Met) rs45517294 0.00031
NM_001048174.2(MUTYH):c.1392+2C>T rs140288388 0.00031
NM_002529.4(NTRK1):c.482G>A (p.Arg161His) rs150271893 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_004656.4(BAP1):c.1962A>C (p.Val654=) rs148624125 0.00031
NM_005188.4(CBL):c.1287C>T (p.Ile429=) rs148368481 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_005912.3(MC4R):c.523G>A (p.Ala175Thr) rs121913563 0.00031
NM_007294.4(BRCA1):c.3708T>G (p.Asn1236Lys) rs28897687 0.00031
NM_012452.3(TNFRSF13B):c.204dup (p.Leu69fs) rs72553875 0.00031
NM_016222.4(DDX41):c.465G>A (p.Met155Ile) rs199697328 0.00031
NM_018117.12(WDR11):c.3450T>G (p.Phe1150Leu) rs139007744 0.00031
NM_153212.3(GJB4):c.568A>T (p.Met190Leu) rs543341299 0.00031
NM_207122.2(EXT2):c.260T>G (p.Met87Arg) rs140075817 0.00031
NM_000122.2(ERCC3):c.325C>T (p.Arg109Ter) rs34295337 0.00030
NM_000268.4(NF2):c.886-15C>T rs200837904 0.00030
NM_000400.4(ERCC2):c.1381C>G (p.Leu461Val) rs121913016 0.00030
NM_000492.4(CFTR):c.2988+1G>A rs75096551 0.00030
NM_000535.7(PMS2):c.706-3C>T rs1229860023 0.00030
NM_001110792.2(MECP2):c.1108G>A (p.Ala370Thr) rs147017239 0.00030
NM_001360.3(DHCR7):c.376G>A (p.Val126Ile) rs143587828 0.00030
NM_002691.4(POLD1):c.714G>A (p.Thr238=) rs149096523 0.00030
NM_003072.5(SMARCA4):c.4179G>A (p.Glu1393=) rs201879930 0.00030
NM_015922.3(NSDHL):c.*129C>T rs145978994 0.00030
NM_000051.4(ATM):c.4082A>G (p.Gln1361Arg) rs141921797 0.00029
NM_000057.4(BLM):c.43C>T (p.Arg15Cys) rs148545569 0.00029
NM_000059.4(BRCA2):c.9925G>A (p.Glu3309Lys) rs80359251 0.00029
NM_000061.3(BTK):c.1252T>C (p.Tyr418His) rs144079566 0.00029
NM_000138.5(FBN1):c.3058A>G (p.Thr1020Ala) rs111801777 0.00029
NM_000249.4(MLH1):c.1897-17C>G rs2308316 0.00029
NM_000268.4(NF2):c.1340+8G>T rs370604189 0.00029
NM_000273.3(GPR143):c.371A>G (p.Gln124Arg) rs62635032 0.00029
NM_000314.8(PTEN):c.882T>G (p.Ser294Arg) rs143335584 0.00029
NM_000321.3(RB1):c.929G>A (p.Gly310Glu) rs200844292 0.00029
NM_000335.5(SCN5A):c.3010T>C (p.Cys1004Arg) rs199473183 0.00029
NM_000368.5(TSC1):c.1960C>G (p.Gln654Glu) rs75820036 0.00029
NM_000400.4(ERCC2):c.2150C>G (p.Ala717Gly) rs144564120 0.00029
NM_000465.4(BARD1):c.346C>T (p.His116Tyr) rs144856889 0.00029
NM_000492.4(CFTR):c.1624G>T (p.Gly542Ter) rs113993959 0.00029
NM_000527.5(LDLR):c.507C>T (p.Asn169=) rs146354103 0.00029
NM_000535.7(PMS2):c.572A>G (p.Tyr191Cys) rs375289386 0.00029
NM_001002294.3(FMO3):c.341A>G (p.Asn114Ser) rs186763441 0.00029
NM_001042492.3(NF1):c.5906A>T (p.Gln1969Leu) rs143502927 0.00029
NM_001089.3(ABCA3):c.367G>A (p.Asp123Asn) rs145087575 0.00029
NM_001211.6(BUB1B):c.2763G>C (p.Gln921His) rs28989183 0.00029
NM_001283009.2(RTEL1):c.1301C>T (p.Thr434Met) rs77086616 0.00029
NM_001363711.2(DUOX2):c.2785C>T (p.Arg929Trp) rs200238968 0.00029
NM_001395413.1(POR):c.1228G>A (p.Gly410Ser) rs567904247 0.00029
NM_002016.2(FLG):c.3321del (p.Gly1109fs) rs200519781 0.00029
NM_002691.4(POLD1):c.961G>A (p.Gly321Ser) rs41554817 0.00029
NM_003051.4(SLC16A1):c.979C>T (p.Pro327Ser) rs77373295 0.00029
NM_003560.4(PLA2G6):c.956C>T (p.Thr319Met) rs149653983 0.00029
NM_007294.4(BRCA1):c.1648A>C (p.Asn550His) rs56012641 0.00029
NM_007294.4(BRCA1):c.536A>G (p.Tyr179Cys) rs56187033 0.00029
NM_014874.4(MFN2):c.2119C>T (p.Arg707Trp) rs119103267 0.00029
NM_025114.4(CEP290):c.2991+1655A>G rs281865192 0.00029
NM_000032.5(ALAS2):c.-34C>T rs780642606 0.00028
NM_000038.6(APC):c.2593C>T (p.Pro865Ser) rs192620988 0.00028
NM_000038.6(APC):c.3511C>T (p.Arg1171Cys) rs201830995 0.00028
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_000402.4(G6PD):c.653C>T (p.Ser218Phe) rs5030868 0.00028
NM_000545.8(HNF1A):c.1541A>G (p.His514Arg) rs202039659 0.00028
NM_000548.5(TSC2):c.3284+25C>T rs370495938 0.00028
NM_001375883.1(GPR161):c.-5T>A rs200635937 0.00028
NM_004341.5(CAD):c.5429G>A (p.Arg1810Gln) rs139332887 0.00028
NM_004360.5(CDH1):c.892G>A (p.Ala298Thr) rs142822590 0.00028
NM_022168.4(IFIH1):c.2016del (p.Asp673fs) rs773033563 0.00028
NM_000136.3(FANCC):c.166-7T>C rs369052148 0.00027
NM_000455.5(STK11):c.*8C>T rs587782259 0.00027
NM_000455.5(STK11):c.-137C>T rs527710714 0.00027
NM_002055.5(GFAP):c.667G>C (p.Glu223Gln) rs56679084 0.00027
NM_002485.5(NBN):c.1262T>C (p.Leu421Ser) rs104895032 0.00027
NM_002529.4(NTRK1):c.940C>T (p.Arg314Cys) rs137994522 0.00027
NM_002691.4(POLD1):c.1795G>A (p.Ala599Thr) rs149569984 0.00027
NM_003907.3(EIF2B5):c.338G>A (p.Arg113His) rs113994049 0.00027
NM_032043.3(BRIP1):c.3559G>A (p.Ala1187Thr) rs367610893 0.00027
NM_152564.5(VPS13B):c.7366G>A (p.Val2456Ile) rs201963516 0.00027
NM_173495.3(PTCHD1):c.517A>G (p.Ile173Val) rs147324438 0.00027
NM_000051.4(ATM):c.1595G>A (p.Cys532Tyr) rs35963548 0.00026
NM_000059.4(BRCA2):c.4584C>T (p.Ser1528=) rs80359788 0.00026
NM_000059.4(BRCA2):c.516+14C>T rs182828913 0.00026
NM_000059.4(BRCA2):c.6853A>G (p.Ile2285Val) rs56272235 0.00026
NM_000059.4(BRCA2):c.9292T>C (p.Tyr3098His) rs41293521 0.00026
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_000260.4(MYO7A):c.3527G>A (p.Ser1176Asn) rs373147966 0.00026
NM_000312.4(PROC):c.565C>T (p.Arg189Trp) rs146922325 0.00026
NM_000335.5(SCN5A):c.5870G>A (p.Arg1957Gln) rs199473331 0.00026
NM_000451.4(SHOX):c.86A>C (p.Lys29Thr) rs146304983 0.00026
NM_000535.7(PMS2):c.1004A>G (p.Asn335Ser) rs200513014 0.00026
NM_000760.4(CSF3R):c.272A>G (p.His91Arg) rs148307285 0.00026
NM_001367721.1(CASK):c.1186C>T (p.Pro396Ser) rs137852820 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_005033.3(EXOSC9):c.41T>C (p.Leu14Pro) rs139632595 0.00026
NM_005228.5(EGFR):c.2543C>T (p.Pro848Leu) rs148934350 0.00026
NM_006017.3(PROM1):c.604C>G (p.Arg202Gly) rs140872693 0.00026
NM_007194.4(CHEK2):c.1283C>T (p.Ser428Phe) rs137853011 0.00026
NM_007294.4(BRCA1):c.736T>G (p.Leu246Val) rs28897675 0.00026
NM_032043.3(BRIP1):c.1255C>T (p.Arg419Trp) rs150624408 0.00026
NM_000051.4(ATM):c.5975A>C (p.Lys1992Thr) rs150757822 0.00025
NM_000053.4(ATP7B):c.122A>G (p.Asn41Ser) rs201738967 0.00025
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_000112.4(SLC26A2):c.229A>C (p.Asn77His) rs76784312 0.00025
NM_000256.3(MYBPC3):c.961G>A (p.Val321Met) rs200119454 0.00025
NM_000264.5(PTCH1):c.4033C>T (p.Arg1345Cys) rs556901417 0.00025
NM_000369.5(TSHR):c.100G>A (p.Glu34Lys) rs45499704 0.00025
NM_000546.6(TP53):c.704A>G (p.Asn235Ser) rs144340710 0.00025
NM_001018115.3(FANCD2):c.1143C>T (p.Asp381=) rs376349741 0.00025
NM_001165963.4(SCN1A):c.3749C>T (p.Thr1250Met) rs140731963 0.00025
NM_002160.4(TNC):c.5317G>A (p.Val1773Met) rs137933052 0.00025
NM_002485.5(NBN):c.1405G>T (p.Asp469Tyr) rs148205441 0.00025
NM_004655.4(AXIN2):c.1059+8C>T rs367595502 0.00025
NM_005228.5(EGFR):c.2024G>A (p.Arg675Gln) rs150423237 0.00025
NM_005228.5(EGFR):c.2996G>A (p.Arg999His) rs149248025 0.00025
NM_005448.2(BMP15):c.226C>T (p.Arg76Cys) rs104894766 0.00025
NM_016146.6(TRAPPC4):c.454+3A>G rs375776811 0.00025
NM_019109.5(ALG1):c.1036C>A (p.Pro346Thr) rs143676440 0.00025
NM_170707.4(LMNA):c.1634G>A (p.Arg545His) rs142191737 0.00025
NM_198578.4(LRRK2):c.7067C>T (p.Thr2356Ile) rs113511708 0.00025
NM_000044.6(AR):c.528C>A (p.Ser176Arg) rs777131133 0.00024
NM_000059.4(BRCA2):c.317-22C>T rs81002794 0.00024
NM_000091.5(COL4A3):c.4510T>C (p.Phe1504Leu) rs201671013 0.00024
NM_000095.3(COMP):c.700C>T (p.Pro234Ser) rs557483957 0.00024
NM_000237.3(LPL):c.998G>A (p.Arg333His) rs144466625 0.00024
NM_000245.4(MET):c.967A>G (p.Ser323Gly) rs201467281 0.00024
NM_000350.3(ABCA4):c.6119G>A (p.Arg2040Gln) rs148460146 0.00024
NM_000465.4(BARD1):c.668A>G (p.Glu223Gly) rs145009419 0.00024
NM_000548.5(TSC2):c.1443+4C>T rs45517172 0.00024
NM_001018115.3(FANCD2):c.2872G>A (p.Val958Met) rs372574627 0.00024
NM_001370658.1(BTD):c.1569C>A (p.Asp523Glu) rs146136265 0.00024
NM_002693.3(POLG):c.2246T>C (p.Phe749Ser) rs202037973 0.00024
NM_003482.4(KMT2D):c.12485G>A (p.Arg4162Gln) rs201078160 0.00024
NM_006231.4(POLE):c.1021G>T (p.Ala341Ser) rs137860861 0.00024
NM_006231.4(POLE):c.2683G>A (p.Ala895Thr) rs201115064 0.00024
NM_006949.4(STXBP2):c.1247-1G>C rs140148806 0.00024
NM_007294.4(BRCA1):c.3929C>A (p.Thr1310Lys) rs80357257 0.00024
NM_007294.4(BRCA1):c.4358-10C>T rs80358111 0.00024
NM_007294.4(BRCA1):c.528G>A (p.Thr176=) rs34545365 0.00024
NM_012082.4(ZFPM2):c.3086A>T (p.Lys1029Ile) rs201729935 0.00024
NM_014862.4(ARNT2):c.1000C>T (p.Pro334Ser) rs145079722 0.00024
NM_014946.4(SPAST):c.1625A>G (p.Asp542Gly) rs142053576 0.00024
NM_020975.6(RET):c.785T>C (p.Val262Ala) rs139790943 0.00024
NM_025130.4(HKDC1):c.1258C>T (p.His420Tyr) rs201518882 0.00024
NM_032043.3(BRIP1):c.139C>G (p.Pro47Ala) rs28903098 0.00024
NM_058216.3(RAD51C):c.145+12T>G rs377297129 0.00024
NM_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_000435.3(NOTCH3):c.2932A>C (p.Ser978Arg) rs141956294 0.00023
NM_001148.6(ANK2):c.4315G>T (p.Gly1439Cys) rs34591340 0.00023
NM_002878.4(RAD51D):c.263+1605G>A rs147933658 0.00023
NM_007294.4(BRCA1):c.1486C>T (p.Arg496Cys) rs28897676 0.00023
NM_020975.6(RET):c.874G>A (p.Val292Met) rs34682185 0.00023
NM_175875.5(SIX5):c.1655C>T (p.Thr552Met) rs80356464 0.00023
NM_000051.4(ATM):c.2281A>T (p.Thr761Ser) rs2235011 0.00022
NM_000051.4(ATM):c.6537T>G (p.Ile2179Met) rs146243469 0.00022
NM_000059.4(BRCA2):c.-197A>C rs370721506 0.00022
NM_000059.4(BRCA2):c.467A>G (p.Asp156Gly) rs68071147 0.00022
NM_000059.4(BRCA2):c.9038C>T (p.Thr3013Ile) rs28897755 0.00022
NM_000059.4(BRCA2):c.9502-12T>G rs81002803 0.00022
NM_000132.4(F8):c.190G>A (p.Val64Met) rs187738612 0.00022
NM_000157.4(GBA1):c.1224G>A (p.Thr408=) rs138498426 0.00022
NM_000245.4(MET):c.1076G>A (p.Arg359Gln) rs201274041 0.00022
NM_000249.4(MLH1):c.2066A>G (p.Gln689Arg) rs63750702 0.00022
NM_000249.4(MLH1):c.307-19A>G rs121909451 0.00022
NM_000251.3(MSH2):c.1787A>G (p.Asn596Ser) rs41295288 0.00022
NM_000277.3(PAH):c.782G>A (p.Arg261Gln) rs5030849 0.00022
NM_000350.3(ABCA4):c.3386G>T (p.Arg1129Leu) rs1801269 0.00022
NM_000352.6(ABCC8):c.3578A>T (p.Asp1193Val) rs139486832 0.00022
NM_000369.5(TSHR):c.202C>T (p.Pro68Ser) rs142063461 0.00022
NM_000400.4(ERCC2):c.1905G>A (p.Ala635=) rs145835916 0.00022
NM_000492.4(CFTR):c.1652G>A (p.Gly551Asp) rs75527207 0.00022
NM_000507.4(FBP1):c.960_961insG (p.Ser321fs) rs757653154 0.00022
NM_000535.7(PMS2):c.953A>G (p.Tyr318Cys) rs139438201 0.00022
NM_004006.3(DMD):c.8138A>G (p.Asn2713Ser) rs758633794 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_004960.4(FUS):c.646C>T (p.Arg216Cys) rs267606832 0.00022
NM_005543.4(INSL3):c.305G>A (p.Arg102His) rs121912556 0.00022
NM_006017.3(PROM1):c.1780A>C (p.Ile594Leu) rs200507858 0.00022
NM_007078.3(LDB3):c.1049C>T (p.Thr350Ile) rs200796750 0.00022
NM_020975.6(RET):c.2410G>A (p.Val804Met) rs79658334 0.00022
NM_025114.4(CEP290):c.6787A>G (p.Ser2263Gly) rs77778467 0.00022
NM_198578.4(LRRK2):c.5822G>A (p.Arg1941His) rs77428810 0.00022
NM_201596.3(CACNB2):c.380C>T (p.Ala127Val) rs200367454 0.00022
NC_000001.11:g.172658929A>G rs895958192 0.00021
NC_000017.11:g.58692541G>A rs545213879 0.00021
NM_000038.6(APC):c.6782C>T (p.Pro2261Leu) rs376494248 0.00021
NM_000059.4(BRCA2):c.5312G>A (p.Gly1771Asp) rs80358755 0.00021
NM_000136.3(FANCC):c.456+4A>T rs104886456 0.00021
NM_000237.3(LPL):c.1342G>A (p.Glu448Lys) rs149089920 0.00021
NM_000245.4(MET):c.3632+42C>G rs376183825 0.00021
NM_000256.3(MYBPC3):c.2728C>A (p.Pro910Thr) rs397515985 0.00021
NM_000271.5(NPC1):c.3019C>G (p.Pro1007Ala) rs80358257 0.00021
NM_000335.5(SCN5A):c.3908C>T (p.Thr1303Met) rs199473603 0.00021
NM_000335.5(SCN5A):c.4591G>A (p.Val1531Ile) rs199473618 0.00021
NM_000465.4(BARD1):c.1347A>G (p.Gln449=) rs373257776 0.00021
NM_000465.4(BARD1):c.842C>T (p.Pro281Leu) rs367890377 0.00021
NM_001048174.2(MUTYH):c.848G>A (p.Arg283Lys) rs149342980 0.00021
NM_001378687.1(ATP2C1):c.2058-17T>C rs117316812 0.00021
NM_002878.4(RAD51D):c.983C>T (p.Thr328Ile) rs138969595 0.00021
NM_004006.3(DMD):c.2827C>T (p.Arg943Cys) rs199986217 0.00021
NM_004360.5(CDH1):c.670C>T (p.Arg224Cys) rs200310662 0.00021
NM_006231.4(POLE):c.561C>T (p.Tyr187=) rs143938822 0.00021
NM_007294.4(BRCA1):c.2155A>G (p.Lys719Glu) rs80357147 0.00021
NM_007294.4(BRCA1):c.5411T>A (p.Val1804Asp) rs80356920 0.00021
NM_012275.3(IL36RN):c.115+6T>C rs148755083 0.00021
NM_012452.3(TNFRSF13B):c.236A>G (p.Tyr79Cys) rs72553876 0.00021
NM_014225.6(PPP2R1A):c.75T>G (p.Val25=) rs587778622 0.00021
NM_024426.6(WT1):c.-106C>T rs867975105 0.00021
NM_024675.4(PALB2):c.298C>T (p.Leu100Phe) rs61756147 0.00021
NM_024675.4(PALB2):c.656A>G (p.Asp219Gly) rs45594034 0.00021
NM_000059.4(BRCA2):c.1385A>G (p.Glu462Gly) rs56403624 0.00020
NM_000059.4(BRCA2):c.2589T>A (p.Asn863Lys) rs80358521 0.00020
NM_000059.4(BRCA2):c.5710C>G (p.Leu1904Val) rs55875643 0.00020
NM_000059.4(BRCA2):c.6803G>A (p.Arg2268Lys) rs80358906 0.00020
NM_000243.3(MEFV):c.1370C>T (p.Ala457Val) rs104895151 0.00020
NM_001109878.2(TBX22):c.459-5T>A rs200060292 0.00020
NM_001369268.1(ACAN):c.913C>T (p.Arg305Cys) rs372895171 0.00020
NM_001379200.1(TBX1):c.1214C>T (p.Pro405Leu) rs746812421 0.00020
NM_004260.4(RECQL4):c.2351G>A (p.Arg784Gln) rs536096413 0.00020
NM_006231.4(POLE):c.1645T>C (p.Ser549Pro) rs115558715 0.00020
NM_015046.7(SETX):c.4273A>G (p.Lys1425Glu) rs534886444 0.00020
NM_018127.7(ELAC2):c.1924G>A (p.Val642Met) rs149561185 0.00020
NM_024678.6(NARS2):c.1253G>A (p.Arg418His) rs535877562 0.00020
NM_206933.4(USH2A):c.10510C>G (p.Pro3504Ala) rs200372118 0.00020
NM_000051.4(ATM):c.1272T>C (p.Pro424=) rs35578748 0.00019
NM_000051.4(ATM):c.295A>G (p.Ser99Gly) rs137882485 0.00019
NM_000051.4(ATM):c.4060C>A (p.Pro1354Thr) rs145119475 0.00019
NM_000051.4(ATM):c.5821G>C (p.Val1941Leu) rs147187700 0.00019
NM_000051.4(ATM):c.8734A>G (p.Arg2912Gly) rs376676328 0.00019
NM_000059.4(BRCA2):c.1123C>T (p.Pro375Ser) rs80358408 0.00019
NM_000059.4(BRCA2):c.5612G>A (p.Ser1871Asn) rs80358782 0.00019
NM_000059.4(BRCA2):c.5946del (p.Ser1982fs) rs80359550 0.00019
NM_000059.4(BRCA2):c.7805+13A>G rs149769332 0.00019
NM_000059.4(BRCA2):c.8487+8G>A rs81002838 0.00019
NM_000059.4(BRCA2):c.9770A>G (p.Lys3257Arg) rs55847618 0.00019
NM_000077.5(CDKN2A):c.457+1129C>T rs774962789 0.00019
NM_000132.4(F8):c.1018G>A (p.Glu340Lys) rs781954986 0.00019
NM_000136.3(FANCC):c.29G>A (p.Cys10Tyr) rs143152201 0.00019
NM_000152.5(GAA):c.2395C>T (p.His799Tyr) rs143347747 0.00019
NM_000153.4(GALC):c.956A>G (p.Tyr319Cys) rs183105855 0.00019
NM_000179.3(MSH6):c.3961A>G (p.Arg1321Gly) rs41295278 0.00019
NM_000179.3(MSH6):c.4001+11_4001+15dup rs587779302 0.00019
NM_000216.4(ANOS1):c.1678G>A (p.Val560Ile) rs2229013 0.00019
NM_000237.3(LPL):c.572A>T (p.Tyr191Phe) rs544932321 0.00019
NM_000251.3(MSH2):c.1255C>A (p.Gln419Lys) rs63750006 0.00019
NM_000251.3(MSH2):c.138C>G (p.His46Gln) rs33946261 0.00019
NM_000256.3(MYBPC3):c.2684G>A (p.Arg895His) rs372628478 0.00019
NM_000256.3(MYBPC3):c.461T>C (p.Ile154Thr) rs373946195 0.00019
NM_000314.8(PTEN):c.-701G>A rs1554890059 0.00019
NM_000443.4(ABCB4):c.2784-12T>C rs201498350 0.00019
NM_000465.4(BARD1):c.308G>A (p.Ser103Asn) rs145629242 0.00019
NM_000492.4(CFTR):c.3041A>G (p.Tyr1014Cys) rs149279509 0.00019
NM_000492.4(CFTR):c.3846G>A (p.Trp1282Ter) rs77010898 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_001009944.3(PKD1):c.7430G>A (p.Arg2477His) rs556618384 0.00019
NM_001009944.3(PKD1):c.9740G>A (p.Arg3247His) rs140791671 0.00019
NM_001130987.2(DYSF):c.6116G>A (p.Arg2039Gln) rs115407852 0.00019
NM_001165963.4(SCN1A):c.3899C>T (p.Thr1300Ile) rs146878122 0.00019
NM_001365536.1(SCN9A):c.2192T>A (p.Ile731Lys) rs200945460 0.00019
NM_002471.4(MYH6):c.824T>A (p.Ile275Asn) rs201327273 0.00019
NM_002691.4(POLD1):c.2007-5C>T rs199506387 0.00019
NM_002907.4(RECQL):c.518T>A (p.Val173Asp) rs144313838 0.00019
NM_005228.5(EGFR):c.1557G>T (p.Glu519Asp) rs116057045 0.00019
NM_005633.4(SOS1):c.1705C>G (p.Leu569Val) rs200786705 0.00019
NM_005633.4(SOS1):c.233T>G (p.Phe78Cys) rs201352584 0.00019
NM_006005.3(WFS1):c.1235T>C (p.Val412Ala) rs144951440 0.00019
NM_007194.4(CHEK2):c.1270T>C (p.Tyr424His) rs139366548 0.00019
NM_007294.4(BRCA1):c.4484+14A>G rs80358022 0.00019
NM_014467.3(SRPX2):c.449C>T (p.Ser150Phe) rs373847965 0.00019
NM_020975.6(RET):c.1529C>T (p.Ala510Val) rs201745826 0.00019
NM_022082.4(SLC17A9):c.25C>T (p.Arg9Cys) rs548728088 0.00019
NM_024426.6(WT1):c.124G>A (p.Gly42Ser) rs762288656 0.00019
NM_032043.3(BRIP1):c.380-5A>G rs587782131 0.00019
NM_032119.4(ADGRV1):c.6994A>T (p.Ile2332Phe) rs193030567 0.00019
NM_153212.3(GJB4):c.292C>T (p.Arg98Cys) rs200602523 0.00019
NM_000038.6(APC):c.3374T>C (p.Val1125Ala) rs377278397 0.00018
NM_000038.6(APC):c.4237A>G (p.Met1413Val) rs141519952 0.00018
NM_000038.6(APC):c.5009C>T (p.Ala1670Val) rs202228932 0.00018
NM_000038.6(APC):c.6637A>G (p.Met2213Val) rs186926737 0.00018
NM_000044.6(AR):c.1644G>T (p.Leu548Phe) rs139524801 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_000059.4(BRCA2):c.7976+23C>T rs183623188 0.00018
NM_000132.4(F8):c.396A>C (p.Glu132Asp) rs137852388 0.00018
NM_000251.3(MSH2):c.1730T>C (p.Ile577Thr) rs63749910 0.00018
NM_000314.4(PTEN):c.-1242G>A rs587779985 0.00018
NM_000335.5(SCN5A):c.2074C>A (p.Gln692Lys) rs45553235 0.00018
NM_000350.3(ABCA4):c.6079C>T (p.Leu2027Phe) rs61751408 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_000372.5(TYR):c.242C>T (p.Pro81Leu) rs28940876 0.00018
NM_000443.4(ABCB4):c.959C>T (p.Ser320Phe) rs72552778 0.00018
NM_000535.7(PMS2):c.137G>T (p.Ser46Ile) rs121434629 0.00018
NM_000546.6(TP53):c.1014C>T (p.Phe338=) rs150293825 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_001048174.2(MUTYH):c.1102+9A>T rs587780742 0.00018
NM_001077653.2(TBX20):c.546-8T>A rs191362319 0.00018
NM_001256071.3(RNF213):c.4865C>T (p.Ala1622Val) rs534665632 0.00018
NM_001282225.2(ADA2):c.973-2A>G rs139750129 0.00018
NM_001378743.1(CYLD):c.514C>T (p.Arg172Cys) rs201836260 0.00018
NM_002878.4(RAD51D):c.39C>G (p.Thr13=) rs146448657 0.00018
NM_002878.4(RAD51D):c.904-3C>T rs45478491 0.00018
NM_002905.5(RDH5):c.712G>T (p.Gly238Trp) rs62638191 0.00018
NM_004304.5(ALK):c.4407G>A (p.Pro1469=) rs372471601 0.00018
NM_005236.3(ERCC4):c.1606G>C (p.Val536Leu) rs143347563 0.00018
NM_006005.3(WFS1):c.2209G>A (p.Glu737Lys) rs147834269 0.00018
NM_006231.4(POLE):c.1597G>A (p.Val533Met) rs374140892 0.00018
NM_006231.4(POLE):c.6751T>C (p.Phe2251Leu) rs373768478 0.00018
NM_007294.4(BRCA1):c.5406+33A>T rs80358092 0.00018
NM_017541.4(CRYGS):c.77A>G (p.Asp26Gly) rs143507827 0.00018
NM_020975.6(RET):c.1531G>A (p.Glu511Lys) rs201553718 0.00018
NM_033380.3(COL4A5):c.3374-11C>A rs104886387 0.00018
NM_198253.3(TERT):c.838G>A (p.Glu280Lys) rs199701877 0.00018
NC_000012.12:g.57752476A>G rs865902881 0.00017
NM_000038.6(APC):c.3479C>A (p.Thr1160Lys) rs201004111 0.00017
NM_000038.6(APC):c.7193C>T (p.Ser2398Phe) rs150882838 0.00017
NM_000044.6(AR):c.208C>T (p.Gln70Ter) rs1281274698 0.00017
NM_000051.4(ATM):c.1009C>T (p.Arg337Cys) rs138398778 0.00017
NM_000051.4(ATM):c.7187C>G (p.Thr2396Ser) rs370559102 0.00017
NM_000057.4(BLM):c.1642C>T (p.Gln548Ter) rs200389141 0.00017
NM_000132.4(F8):c.2887G>A (p.Asp963Asn) rs199660138 0.00017
NM_000132.4(F8):c.3836G>A (p.Arg1279Lys) rs139451429 0.00017
NM_000256.3(MYBPC3):c.624G>C (p.Gln208His) rs202139499 0.00017
NM_000335.5(SCN5A):c.80G>A (p.Arg27His) rs199473045 0.00017
NM_000350.3(ABCA4):c.1622T>C (p.Leu541Pro) rs61751392 0.00017
NM_000477.7(ALB):c.1669G>A (p.Val557Met) rs78284052 0.00017
NM_000535.7(PMS2):c.2012C>T (p.Thr671Met) rs587780046 0.00017
NM_001042492.3(NF1):c.6172A>G (p.Ile2058Val) rs201712827 0.00017
NM_001291303.3(FAT4):c.3212T>C (p.Val1071Ala) rs200138872 0.00017
NM_005431.2(XRCC2):c.613T>G (p.Ser205Ala) rs56103026 0.00017
NM_007294.4(BRCA1):c.3748G>A (p.Glu1250Lys) rs28897686 0.00017
NM_007294.4(BRCA1):c.4132G>A (p.Val1378Ile) rs28897690 0.00017
NM_020937.4(FANCM):c.5848T>G (p.Leu1950Val) rs146436929 0.00017
NM_024675.4(PALB2):c.2135C>T (p.Ala712Val) rs141458731 0.00017
NM_032043.3(BRIP1):c.854A>G (p.His285Arg) rs141055990 0.00017
NM_000038.6(APC):c.6510A>C (p.Pro2170=) rs138571760 0.00016
NM_000038.6(APC):c.7625A>G (p.Asn2542Ser) rs151163793 0.00016
NM_000051.4(ATM):c.9086G>A (p.Gly3029Asp) rs201199629 0.00016
NM_000077.5(CDKN2A):c.384G>A (p.Arg128=) rs199901898 0.00016
NM_000124.4(ERCC6):c.4063-5T>C rs186482480 0.00016
NM_000135.4(FANCA):c.3348+7G>T rs185527578 0.00016
NM_000157.4(GBA1):c.222_224del (p.Thr75del) rs761621516 0.00016
NM_000157.4(GBA1):c.882T>G (p.His294Gln) rs367968666 0.00016
NM_000179.3(MSH6):c.3160A>T (p.Ile1054Phe) rs267608075 0.00016
NM_000245.4(MET):c.4087G>A (p.Ala1363Thr) rs45578433 0.00016
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_000256.3(MYBPC3):c.1321G>A (p.Glu441Lys) rs193922377 0.00016
NM_000261.2(MYOC):c.34G>C (p.Gly12Arg) rs199752860 0.00016
NM_000268.4(NF2):c.613A>G (p.Met205Val) rs141629512 0.00016
NM_000321.3(RB1):c.113G>A (p.Gly38Asp) rs766529534 0.00016
NM_000402.4(G6PD):c.556G>A (p.Glu186Lys) rs137852313 0.00016
NM_000455.5(STK11):c.-461G>A rs552610464 0.00016
NM_000492.4(CFTR):c.1853T>C (p.Ile618Thr) rs139468767 0.00016
NM_000492.4(CFTR):c.3909C>G (p.Asn1303Lys) rs80034486 0.00016
NM_000492.4(CFTR):c.489+3A>G rs377729736 0.00016
NM_000527.5(LDLR):c.1816G>T (p.Ala606Ser) rs72658865 0.00016
NM_000535.7(PMS2):c.2437C>T (p.Arg813Trp) rs375968016 0.00016
NM_000535.7(PMS2):c.53T>C (p.Ile18Thr) rs201343342 0.00016
NM_000540.3(RYR1):c.9713A>G (p.Glu3238Gly) rs200950673 0.00016
NM_000545.8(HNF1A):c.716C>T (p.Ala239Val) rs587778397 0.00016
NM_001009944.3(PKD1):c.4759C>T (p.Arg1587Cys) rs773407492 0.00016
NM_001018115.3(FANCD2):c.1118C>T (p.Ser373Leu) rs372534421 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_001165963.4(SCN1A):c.5870A>G (p.Glu1957Gly) rs121918802 0.00016
NM_001242896.3(DEPDC5):c.3311C>T (p.Ser1104Leu) rs79027628 0.00016
NM_001370259.2(MEN1):c.1080C>T (p.Ile360=) rs147331514 0.00016
NM_001382430.1(AKT1):c.288-3C>T rs61761189 0.00016
NM_001429.4(EP300):c.4026G>A (p.Arg1342=) rs146119145 0.00016
NM_002180.3(IGHMBP2):c.1488C>A (p.Cys496Ter) rs145226920 0.00016
NM_002691.4(POLD1):c.2337G>A (p.Ala779=) rs147108748 0.00016
NM_002691.4(POLD1):c.353C>T (p.Ser118Phe) rs780604625 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_004183.4(BEST1):c.584C>T (p.Ala195Val) rs200277476 0.00016
NM_004727.3(SLC24A1):c.754_755del (p.Met252fs) rs777989874 0.00016
NM_004933.3(CDH15):c.22G>C (p.Val8Leu) rs567903921 0.00016
NM_005431.2(XRCC2):c.283A>G (p.Ile95Val) rs140214637 0.00016
NM_006231.4(POLE):c.154C>T (p.Arg52Trp) rs115452881 0.00016
NM_006231.4(POLE):c.3245G>A (p.Arg1082His) rs201744227 0.00016
NM_006231.4(POLE):c.3862G>A (p.Ala1288Thr) rs200398117 0.00016
NM_006883.2(SHOX):c.-432-3C>A rs1030279647 0.00016
NM_007194.4(CHEK2):c.715G>A (p.Glu239Lys) rs121908702 0.00016
NM_014112.5(TRPS1):c.2441G>T (p.Arg814Leu) rs146506752 0.00016
NM_018124.4(RFWD3):c.1340C>G (p.Ala447Gly) rs370961000 0.00016
NM_020812.4(DOCK6):c.4469G>A (p.Arg1490Gln) rs200472954 0.00016
NM_021728.4(OTX2):c.425C>G (p.Pro142Arg) rs199761861 0.00016
NM_022042.4(SLC26A1):c.61C>T (p.Arg21Cys) rs376882525 0.00016
NM_022455.5(NSD1):c.7576C>T (p.Pro2526Ser) rs373932824 0.00016
NM_032043.3(BRIP1):c.2440C>T (p.Arg814Cys) rs201869624 0.00016
NM_057176.3(BSND):c.139G>A (p.Gly47Arg) rs74315289 0.00016
NM_177438.3(DICER1):c.3553G>A (p.Ala1185Thr) rs150514959 0.00016
NM_201548.5(CERKL):c.1160-10T>G rs771126203 0.00016
NM_213720.3(CHCHD10):c.239C>T (p.Pro80Leu) rs775332895 0.00016
NM_000038.6(APC):c.1606G>A (p.Glu536Lys) rs138098808 0.00015
NM_000038.6(APC):c.6985A>G (p.Ile2329Val) rs146048493 0.00015
NM_000051.4(ATM):c.8156G>A (p.Arg2719His) rs55982963 0.00015
NM_000057.4(BLM):c.274A>G (p.Asn92Asp) rs200690226 0.00015
NM_000204.5(CFI):c.608C>T (p.Thr203Ile) rs138346388 0.00015
NM_000245.4(MET):c.1771C>T (p.Arg591Trp) rs45602940 0.00015
NM_000245.4(MET):c.40C>T (p.Leu14Phe) rs763344951 0.00015
NM_000249.4(MLH1):c.1820T>A (p.Leu607His) rs41295284 0.00015
NM_000312.4(PROC):c.703A>C (p.Lys235Gln) rs370086431 0.00015
NM_000397.4(CYBB):c.483+978G>A rs1031189017 0.00015
NM_000440.3(PDE6A):c.1705C>A (p.Gln569Lys) rs139444207 0.00015
NM_000492.4(CFTR):c.1046C>T (p.Ala349Val) rs121909021 0.00015
NM_000494.4(COL17A1):c.3908G>A (p.Arg1303Gln) rs121912771 0.00015
NM_000548.5(TSC2):c.1939G>A (p.Asp647Asn) rs45509392 0.00015
NM_000719.7(CACNA1C):c.6040G>A (p.Val2014Ile) rs199473660 0.00015
NM_001042492.3(NF1):c.3436G>A (p.Val1146Ile) rs201047812 0.00015
NM_001079668.3(NKX2-1):c.78-151A>G rs1003307358 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_002471.4(MYH6):c.3195G>C (p.Gln1065His) rs267606904 0.00015
NM_002485.5(NBN):c.38-10T>A rs556807466 0.00015
NM_003801.4(GPAA1):c.1477_1478del (p.Arg493fs) rs782339984 0.00015
NM_004360.5(CDH1):c.2329G>A (p.Asp777Asn) rs372989292 0.00015
NM_006662.3(SRCAP):c.8500G>A (p.Gly2834Arg) rs146421389 0.00015
NM_007194.4(CHEK2):c.190G>A (p.Glu64Lys) rs141568342 0.00015
NM_014795.4(ZEB2):c.10C>G (p.Pro4Ala) rs146394306 0.00015
NM_031276.3(TEX11):c.2243T>C (p.Val748Ala) rs200139216 0.00015
NM_032444.4(SLX4):c.5249C>T (p.Ala1750Val) rs745421287 0.00015
NM_133433.4(NIPBL):c.6478G>T (p.Asp2160Tyr) rs147054690 0.00015
NM_000018.4(ACADVL):c.1700G>A (p.Arg567Gln) rs398123084 0.00014
NM_000020.3(ACVRL1):c.652C>T (p.Arg218Trp) rs199874575 0.00014
NM_000038.6(APC):c.6609T>C (p.Val2203=) rs149328018 0.00014
NM_000051.4(ATM):c.2927T>C (p.Val976Ala) rs146145357 0.00014
NM_000051.4(ATM):c.3077+4G>A rs201222237 0.00014
NM_000059.4(BRCA2):c.4061C>T (p.Thr1354Met) rs80358656 0.00014
NM_000059.4(BRCA2):c.502C>A (p.Pro168Thr) rs80358726 0.00014
NM_000059.4(BRCA2):c.742G>A (p.Ala248Thr) rs55854959 0.00014
NM_000132.4(F8):c.3169G>A (p.Glu1057Lys) rs28933673 0.00014
NM_000159.4(GCDH):c.1198G>A (p.Val400Met) rs121434372 0.00014
NM_000179.3(MSH6):c.2398G>C (p.Val800Leu) rs61748083 0.00014
NM_000179.3(MSH6):c.884A>G (p.Lys295Arg) rs267608051 0.00014
NM_000249.4(MLH1):c.803A>G (p.Glu268Gly) rs63750650 0.00014
NM_000321.3(RB1):c.1156A>G (p.Met386Val) rs564780653 0.00014
NM_000455.5(STK11):c.920+12C>T rs186518799 0.00014
NM_000465.4(BARD1):c.1203T>C (p.Ser401=) rs370553043 0.00014
NM_001009944.3(PKD1):c.8041C>T (p.Arg2681Cys) rs540634317 0.00014
NM_001083116.3(PRF1):c.1262T>G (p.Phe421Cys) rs200534908 0.00014
NM_001360016.2(G6PD):c.1360C>T (p.Arg454Cys) rs398123546 0.00014
NM_002336.3(LRP6):c.246A>T (p.Lys82Asn) rs199693693 0.00014
NM_002485.5(NBN):c.266G>C (p.Arg89Pro) rs747315554 0.00014
NM_002529.4(NTRK1):c.584C>T (p.Thr195Met) rs552776147 0.00014
NM_002693.3(POLG):c.3436C>T (p.Arg1146Cys) rs2307440 0.00014
NM_002907.4(RECQL):c.1465A>G (p.Ile489Val) rs146077019 0.00014
NM_003041.4(SLC5A2):c.885+5G>A rs200228142 0.00014
NM_004004.6(GJB2):c.511G>A (p.Ala171Thr) rs201004645 0.00014
NM_004667.6(HERC2):c.4126C>T (p.Arg1376Ter) rs575492335 0.00014
NM_005257.6(GATA6):c.551G>A (p.Ser184Asn) rs387906816 0.00014
NM_007194.4(CHEK2):c.-4C>T rs374938148 0.00014
NM_007194.4(CHEK2):c.1489G>A (p.Asp497Asn) rs143965148 0.00014
NM_007194.4(CHEK2):c.1525C>T (p.Pro509Ser) rs587780179 0.00014
NM_007198.4(PLPBP):c.704T>G (p.Val235Gly) rs367850837 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_014215.3(INSRR):c.3761T>C (p.Phe1254Ser) rs146201749 0.00014
NM_016169.4(SUFU):c.1296+1638C>T rs368920108 0.00014
NM_018062.4(FANCL):c.1021-6T>C rs377052216 0.00014
NM_020297.4(ABCC9):c.1987C>T (p.Arg663Cys) rs200349671 0.00014
NM_020320.5(RARS2):c.1026G>A (p.Met342Ile) rs34647222 0.00014
NM_020800.3(IFT80):c.869A>G (p.Asn290Ser) rs138081429 0.00014
NM_020975.6(RET):c.1063+9G>A rs765463636 0.00014
NM_022788.5(P2RY12):c.365G>A (p.Arg122His) rs778790805 0.00014
NM_032043.3(BRIP1):c.-30-3T>C rs370728413 0.00014
NM_058216.3(RAD51C):c.784T>G (p.Leu262Val) rs149331537 0.00014
NM_152683.4(PRIMPOL):c.265T>G (p.Tyr89Asp) rs200857997 0.00014
NM_170784.3(MKKS):c.1553G>A (p.Arg518His) rs149051148 0.00014
NM_000051.4(ATM):c.131A>G (p.Asp44Gly) rs150143957 0.00013
NM_000051.4(ATM):c.2606C>G (p.Ala869Gly) rs145513717 0.00013
NM_000051.4(ATM):c.8560C>T (p.Arg2854Cys) rs201958469 0.00013
NM_000051.4(ATM):c.8671+9T>G rs200190537 0.00013
NM_000059.4(BRCA2):c.2274T>G (p.Ser758Arg) rs142243359 0.00013
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_000088.4(COL1A1):c.1583G>A (p.Arg528His) rs144751329 0.00013
NM_000169.3(GLA):c.1088G>A (p.Arg363His) rs111422676 0.00013
NM_000179.3(MSH6):c.650A>G (p.Asp217Gly) rs554012110 0.00013
NM_000244.4(MEN1):c.-47A>G rs1035192873 0.00013
NM_000329.3(RPE65):c.370C>T (p.Arg124Ter) rs61752877 0.00013
NM_000492.4(CFTR):c.617T>G (p.Leu206Trp) rs121908752 0.00013
NM_000535.7(PMS2):c.255G>A (p.Leu85=) rs200491279 0.00013
NM_000535.7(PMS2):c.620G>A (p.Gly207Glu) rs374704824 0.00013
NM_000784.4(CYP27A1):c.1016C>T (p.Thr339Met) rs121908102 0.00013
NM_001048174.2(MUTYH):c.849+3A>C rs587780751 0.00013
NM_001098816.3(TENM4):c.3053G>A (p.Arg1018His) rs748691958 0.00013
NM_001126128.2(PROK2):c.163del (p.Ser54_Ile55insTer) rs554675432 0.00013
NM_001127511.3(APC):c.119G>C (p.Ser40Thr) rs587778028 0.00013
NM_001134831.2(AHI1):c.3196C>T (p.Arg1066Ter) rs780163791 0.00013
NM_001366110.1(PAX4):c.385C>T (p.Arg129Trp) rs114202595 0.00013
NM_002529.4(NTRK1):c.1661G>A (p.Arg554Gln) rs764417252 0.00013
NM_002529.4(NTRK1):c.570C>G (p.Ser190Arg) rs138608619 0.00013
NM_002907.4(RECQL):c.468T>G (p.Ile156Met) rs777214281 0.00013
NM_002907.4(RECQL):c.86C>T (p.Thr29Met) rs145067169 0.00013
NM_004006.3(DMD):c.821A>G (p.Tyr274Cys) rs745868830 0.00013
NM_004360.5(CDH1):c.2635G>A (p.Gly879Ser) rs200911775 0.00013
NM_004380.3(CREBBP):c.5776C>G (p.Arg1926Gly) rs778915687 0.00013
NM_005431.2(XRCC2):c.620A>G (p.Glu207Gly) rs61762969 0.00013
NM_005548.3(KARS1):c.599C>T (p.Pro200Leu) rs201650281 0.00013
NM_005765.3(ATP6AP2):c.217C>T (p.Arg73Trp) rs749401561 0.00013
NM_006080.3(SEMA3A):c.2062A>G (p.Thr688Ala) rs318240751 0.00013
NM_007194.4(CHEK2):c.7C>T (p.Arg3Trp) rs199708878 0.00013
NM_007294.4(BRCA1):c.3691T>C (p.Phe1231Leu) rs41293451 0.00013
NM_013447.4(ADGRE2):c.364G>A (p.Glu122Lys) rs200783500 0.00013
NM_017909.4(RMND1):c.713A>G (p.Asn238Ser) rs144972972 0.00013
NM_018941.4(CLN8):c.200C>T (p.Ala67Val) rs373957283 0.00013
NM_020937.4(FANCM):c.5440G>A (p.Glu1814Lys) rs139074680 0.00013
NM_021728.4(OTX2):c.641C>A (p.Thr214Asn) rs150982073 0.00013
NM_024675.4(PALB2):c.232G>A (p.Val78Ile) rs515726085 0.00013
NM_024675.4(PALB2):c.3257G>A (p.Arg1086Gln) rs146377793 0.00013
NM_033163.5(FGF8):c.686C>T (p.Thr229Met) rs137852664 0.00013
NM_201253.3(CRB1):c.2843G>A (p.Cys948Tyr) rs62645748 0.00013
NM_000038.6(APC):c.1631T>C (p.Ile544Thr) rs144056494 0.00012
NM_000038.6(APC):c.2204C>T (p.Ala735Val) rs147655929 0.00012
NM_000038.6(APC):c.450A>G (p.Lys150=) rs116020626 0.00012
NM_000038.6(APC):c.5392A>G (p.Asn1798Asp) rs200794097 0.00012
NM_000038.6(APC):c.5801C>T (p.Pro1934Leu) rs587780600 0.00012
NM_000038.6(APC):c.6873A>T (p.Gln2291His) rs148878262 0.00012
NM_000059.4(BRCA2):c.3055C>G (p.Leu1019Val) rs55638633 0.00012
NM_000138.5(FBN1):c.185G>A (p.Arg62His) rs145942328 0.00012
NM_000243.3(MEFV):c.2080A>G (p.Met694Val) rs61752717 0.00012
NM_000249.4(MLH1):c.1050A>G (p.Pro350=) rs137937003 0.00012
NM_000402.4(G6PD):c.1478G>A (p.Arg493His) rs72554664 0.00012
NM_000492.4(CFTR):c.1657C>T (p.Arg553Ter) rs74597325 0.00012
NM_000521.4(HEXB):c.1627G>A (p.Ala543Thr) rs121907984 0.00012
NM_000527.5(LDLR):c.2101G>A (p.Gly701Ser) rs368838866 0.00012
NM_000535.7(PMS2):c.2445G>A (p.Ser815=) rs753199796 0.00012
NM_001103.4(ACTN2):c.1748A>G (p.Glu583Gly) rs200631005 0.00012
NM_001109878.2(TBX22):c.780G>A (p.Thr260=) rs373817537 0.00012
NM_001283009.2(RTEL1):c.2651C>T (p.Pro884Leu) rs199698251 0.00012
NM_001289.6(CLIC2):c.303C>G (p.His101Gln) rs398122917 0.00012
NM_001317778.2(SFTPC):c.445G>C (p.Ala149Pro) rs202145169 0.00012
NM_001370259.2(MEN1):c.1618C>T (p.Pro540Ser) rs745404679 0.00012
NM_001370658.1(BTD):c.38G>T (p.Cys13Phe) rs141131444 0.00012
NM_001370658.1(BTD):c.40_41del (p.Gly14fs) rs765906887 0.00012
NM_002025.4(AFF2):c.1834C>G (p.His612Asp) rs376847375 0.00012
NM_002872.5(RAC2):c.545C>T (p.Thr182Met) rs141308774 0.00012
NM_003955.5(SOCS3):c.408C>A (p.Phe136Leu) rs17849241 0.00012
NM_004092.4(ECHS1):c.518C>T (p.Ala173Val) rs150321966 0.00012
NM_004656.4(BAP1):c.1408G>A (p.Gly470Arg) rs576538858 0.00012
NM_005228.5(EGFR):c.2800C>T (p.Pro934Ser) rs575565383 0.00012
NM_005236.3(ERCC4):c.2647G>A (p.Glu883Lys) rs201652412 0.00012
NM_006231.4(POLE):c.6674G>A (p.Arg2225His) rs538875477 0.00012
NM_007194.4(CHEK2):c.410G>A (p.Arg137Gln) rs368570187 0.00012
NM_007294.4(BRCA1):c.2315T>C (p.Val772Ala) rs80357467 0.00012
NM_017563.5(IL17RD):c.572C>T (p.Pro191Leu) rs200088377 0.00012
NM_020937.4(FANCM):c.5832G>T (p.Leu1944Phe) rs201017015 0.00012
NM_174936.4(PCSK9):c.1069C>T (p.Arg357Cys) rs148562777 0.00012
NM_000038.6(APC):c.-43A>C rs879254014 0.00011
NM_000044.6(AR):c.1301C>T (p.Ser434Phe) rs748457992 0.00011
NM_000051.4(ATM):c.5185G>C (p.Val1729Leu) rs3092907 0.00011
NM_000051.4(ATM):c.5890A>G (p.Lys1964Glu) rs201963507 0.00011
NM_000051.4(ATM):c.6343G>A (p.Val2115Ile) rs587780634 0.00011
NM_000051.4(ATM):c.8071C>T (p.Arg2691Cys) rs531980488 0.00011
NM_000057.4(BLM):c.1315A>G (p.Met439Val) rs201231857 0.00011
NM_000059.4(BRCA2):c.1272A>G (p.Ser424=) rs587780531 0.00011
NM_000059.4(BRCA2):c.9501+9A>C rs81002867 0.00011
NM_000132.4(F8):c.6951C>G (p.Asp2317Glu) rs782799573 0.00011
NM_000136.3(FANCC):c.817G>A (p.Glu273Lys) rs143181565 0.00011
NM_000159.4(GCDH):c.877G>A (p.Ala293Thr) rs121434371 0.00011
NM_000179.3(MSH6):c.124C>T (p.Pro42Ser) rs34014629 0.00011
NM_000179.3(MSH6):c.628-7C>A rs373129248 0.00011
NM_000243.3(MEFV):c.800C>T (p.Thr267Ile) rs104895081 0.00011
NM_000249.4(MLH1):c.626A>G (p.Asn209Ser) rs150478207 0.00011
NM_000251.3(MSH2):c.128A>G (p.Tyr43Cys) rs17217723 0.00011
NM_000251.3(MSH2):c.1790A>C (p.Asp597Ala) rs548407418 0.00011
NM_000251.3(MSH2):c.2203A>G (p.Ile735Val) rs2229061 0.00011
NM_000251.3(MSH2):c.2785C>T (p.Arg929Ter) rs551060742 0.00011
NM_000255.4(MMUT):c.2026G>A (p.Ala676Thr) rs147715336 0.00011
NM_000268.4(NF2):c.999+15G>A rs367716680 0.00011
NM_000292.3(PHKA2):c.1493C>T (p.Pro498Leu) rs199792389 0.00011
NM_000314.8(PTEN):c.235G>A (p.Ala79Thr) rs202004587 0.00011
NM_000321.3(RB1):c.59C>T (p.Pro20Leu) rs587778637 0.00011
NM_000329.3(RPE65):c.272G>A (p.Arg91Gln) rs61752873 0.00011
NM_000335.5(SCN5A):c.1019G>A (p.Arg340Gln) rs191009474 0.00011
NM_000335.5(SCN5A):c.1333C>G (p.His445Asp) rs199473112 0.00011
NM_000404.4(GLB1):c.1783C>T (p.Arg595Trp) rs201807974 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_000455.5(STK11):c.1038C>T (p.Gly346=) rs767565606 0.00011
NM_000455.5(STK11):c.825G>A (p.Pro275=) rs202011521 0.00011
NM_000465.4(BARD1):c.1835A>T (p.Asp612Val) rs201140528 0.00011
NM_000492.3(CFTR):c.3718-2477C>T rs75039782 0.00011
NM_000492.4(CFTR):c.1163C>T (p.Thr388Met) rs143860237 0.00011
NM_000492.4(CFTR):c.489+1G>T rs78756941 0.00011
NM_000492.4(CFTR):c.772A>G (p.Arg258Gly) rs191456345 0.00011
NM_000503.6(EYA1):c.865G>T (p.Asp289Tyr) rs201504674 0.00011
NM_000515.5(GH1):c.124C>T (p.Arg42Cys) rs71640273 0.00011
NM_000535.7(PMS2):c.1555T>C (p.Tyr519His) rs370236216 0.00011
NM_000535.7(PMS2):c.857A>G (p.Asp286Gly) rs116788608 0.00011
NM_000540.3(RYR1):c.14524G>A (p.Val4842Met) rs193922879 0.00011
NM_000704.3(ATP4A):c.2107C>T (p.Arg703Cys) rs776225963 0.00011
NM_001005242.3(PKP2):c.1930T>C (p.Ser644Pro) rs144601090 0.00011
NM_001048174.2(MUTYH):c.1034C>T (p.Ala345Val) rs35352891 0.00011
NM_001079866.2(BCS1L):c.205C>T (p.Arg69Cys) rs377025174 0.00011
NM_001099857.5(IKBKG):c.185G>A (p.Arg62Gln) rs782604431 0.00011
NM_001371904.1(APOA5):c.551C>G (p.Thr184Ser) rs201229911 0.00011
NM_001429.4(EP300):c.2351C>T (p.Pro784Leu) rs201480900 0.00011
NM_001918.5(DBT):c.827T>G (p.Phe276Cys) rs121964999 0.00011
NM_001943.5(DSG2):c.1478A>G (p.Asn493Ser) rs375679311 0.00011
NM_002474.3(MYH11):c.4861A>C (p.Lys1621Gln) rs34321232 0.00011
NM_002529.4(NTRK1):c.1808C>G (p.Ser603Cys) rs188270548 0.00011
NM_002691.4(POLD1):c.432C>T (p.Phe144=) rs550836711 0.00011
NM_002691.4(POLD1):c.521G>A (p.Arg174Gln) rs141976385 0.00011
NM_003937.3(KYNU):c.773T>C (p.Val258Ala) rs376794557 0.00011
NM_004211.5(SLC6A5):c.823G>A (p.Ala275Thr) rs748625983 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_004431.5(EPHA2):c.1046C>T (p.Thr349Met) rs200490325 0.00011
NM_004700.4(KCNQ4):c.546C>G (p.Phe182Leu) rs80358273 0.00011
NM_005154.5(USP8):c.3334C>T (p.Arg1112Ter) rs142928952 0.00011
NM_006186.4(NR4A2):c.289A>G (p.Met97Val) rs143618355 0.00011
NM_006218.4(PIK3CA):c.168C>T (p.Tyr56=) rs200868796 0.00011
NM_006231.4(POLE):c.940T>G (p.Ser314Ala) rs770403791 0.00011
NM_006514.4(SCN10A):c.599C>T (p.Ala200Val) rs554062977 0.00011
NM_007294.4(BRCA1):c.1905T>C (p.Asn635=) rs369373293 0.00011
NM_007294.4(BRCA1):c.2002C>T (p.Leu668Phe) rs80357250 0.00011
NM_007294.4(BRCA1):c.3823A>G (p.Ile1275Val) rs80357280 0.00011
NM_007294.4(BRCA1):c.4358-2725T>C rs374519494 0.00011
NM_007294.4(BRCA1):c.441+18C>T rs371973519 0.00011
NM_007294.4(BRCA1):c.4934G>C (p.Arg1645Thr) rs70953661 0.00011
NM_007294.4(BRCA1):c.5158A>G (p.Thr1720Ala) rs56195342 0.00011
NM_016953.4(PDE11A):c.1811C>G (p.Ser604Ter) rs771254375 0.00011
NM_020937.4(FANCM):c.53G>A (p.Arg18Gln) rs146609069 0.00011
NM_020975.6(RET):c.1642G>A (p.Gly548Ser) rs374461212 0.00011
NM_022895.3(C12orf43):c.*2096C>T rs571134960 0.00011
NM_024675.4(PALB2):c.1250C>A (p.Ser417Tyr) rs45510998 0.00011
NM_032043.3(BRIP1):c.3444C>A (p.Asp1148Glu) rs28997573 0.00011
NM_080632.3(UPF3B):c.1136G>A (p.Arg379His) rs140032597 0.00011
NM_198578.4(LRRK2):c.632C>T (p.Ala211Val) rs112794616 0.00011
NM_206933.4(USH2A):c.14453C>T (p.Pro4818Leu) rs143344549 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_000038.6(APC):c.388A>G (p.Ser130Gly) rs150973053 0.00010
NM_000044.6(AR):c.1195T>C (p.Trp399Arg) rs774645775 0.00010
NM_000051.4(ATM):c.1703G>T (p.Arg568Ile) rs200381392 0.00010
NM_000057.4(BLM):c.3991A>G (p.Arg1331Gly) rs150631940 0.00010
NM_000059.4(BRCA2):c.10045A>G (p.Thr3349Ala) rs80358387 0.00010
NM_000059.4(BRCA2):c.5414A>G (p.Asn1805Ser) rs80358765 0.00010
NM_000059.4(BRCA2):c.8633-16C>G rs81002818 0.00010
NM_000128.4(F11):c.1613C>T (p.Pro538Leu) rs139695003 0.00010
NM_000132.4(F8):c.1337G>A (p.Arg446Gln) rs781889613 0.00010
NM_000136.3(FANCC):c.1259C>T (p.Thr420Met) rs779261511 0.00010
NM_000155.4(GALT):c.864C>T (p.Asn288=) rs372134800 0.00010
NM_000179.3(MSH6):c.1729C>T (p.Arg577Cys) rs542838372 0.00010
NM_000179.3(MSH6):c.1875C>T (p.Ser625=) rs63749886 0.00010
NM_000179.3(MSH6):c.3245C>T (p.Pro1082Leu) rs191109849 0.00010
NM_000216.4(ANOS1):c.1699G>A (p.Gly567Ser) rs142455173 0.00010
NM_000238.4(KCNH2):c.2944G>A (p.Asp982Asn) rs569452580 0.00010
NM_000243.3(MEFV):c.2282G>A (p.Arg761His) rs104895097 0.00010
NM_000251.3(MSH2):c.1386+23T>G rs747646424 0.00010
NM_000257.4(MYH7):c.976G>C (p.Ala326Pro) rs372731424 0.00010
NM_000260.4(MYO7A):c.1343+5C>T rs113261636 0.00010
NM_000263.4(NAGLU):c.1693C>T (p.Arg565Trp) rs104894597 0.00010
NM_000268.4(NF2):c.1737+1432G>A rs746764835 0.00010
NM_000283.4(PDE6B):c.1927_1948del (p.Asn643fs) rs1325957874 0.00010
NM_000322.5(PRPH2):c.623G>A (p.Gly208Asp) rs139185976 0.00010
NM_000370.3(TTPA):c.513_514insTT (p.Thr172fs) rs397515379 0.00010
NM_000402.4(G6PD):c.961G>A (p.Val321Met) rs137852327 0.00010
NM_000435.3(NOTCH3):c.1630C>T (p.Arg544Cys) rs201118034 0.00010
NM_000451.4(SHOX):c.698C>T (p.Ala233Val) rs750375727 0.00010
NM_000535.7(PMS2):c.714C>A (p.Ser238Arg) rs151251082 0.00010
NM_000551.4(VHL):c.598C>T (p.Arg200Trp) rs28940298 0.00010
NM_001048174.2(MUTYH):c.-6-7G>A rs780029247 0.00010
NM_001048174.2(MUTYH):c.1205C>T (p.Pro402Leu) rs587780079 0.00010
NM_001048174.2(MUTYH):c.397G>C (p.Asp133His) rs564930066 0.00010
NM_001048174.2(MUTYH):c.566G>A (p.Arg189His) rs147754007 0.00010
NM_001098.3(ACO2):c.2135C>T (p.Pro712Leu) rs375761361 0.00010
NM_001136193.2(FASTKD2):c.882-1G>A rs767682048 0.00010
NM_001282225.2(ADA2):c.139G>A (p.Gly47Arg) rs202134424 0.00010
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_001378477.3(NYX):c.1034G>A (p.Trp345Ter) rs62637037 0.00010
NM_001379270.1(CNGA1):c.640C>T (p.Arg214Ter) rs759781200 0.00010
NM_001754.5(RUNX1):c.*4188G>C rs761390141 0.00010
NM_002109.6(HARS1):c.410G>A (p.Arg137Gln) rs191391414 0.00010
NM_002691.4(POLD1):c.2987C>T (p.Thr996Met) rs918661445 0.00010
NM_002693.3(POLG):c.3139C>T (p.Arg1047Trp) rs181860632 0.00010
NM_002878.4(RAD51D):c.137C>G (p.Ser46Cys) rs587780102 0.00010
NM_003000.3(SDHB):c.440A>G (p.Tyr147Cys) rs774568101 0.00010
NM_004006.3(DMD):c.1318G>A (p.Glu440Lys) rs189143447 0.00010
NM_004082.5(DCTN1):c.2353C>T (p.Arg785Trp) rs121909344 0.00010
NM_005431.2(XRCC2):c.229G>C (p.Glu77Gln) rs142527605 0.00010
NM_005448.2(BMP15):c.727A>G (p.Ile243Val) rs782379521 0.00010
NM_006231.4(POLE):c.6531+6G>T rs774747998 0.00010
NM_006329.4(FBLN5):c.1051C>T (p.Arg351Trp) rs28939073 0.00010
NM_007059.4(KPTN):c.597_598dup (p.Ser200fs) rs766372684 0.00010
NM_012193.4(FZD4):c.1589G>A (p.Gly530Glu) rs201256460 0.00010
NM_016111.4(TELO2):c.2296G>A (p.Val766Met) rs371675497 0.00010
NM_032043.3(BRIP1):c.2392C>T (p.Arg798Ter) rs137852986 0.00010
NM_033343.4(LHX4):c.776G>A (p.Arg259Gln) rs375216188 0.00010
NM_138959.3(VANGL1):c.248C>T (p.Ser83Leu) rs146695372 0.00010
NM_152443.3(RDH12):c.701G>A (p.Arg234His) rs750636662 0.00010
NM_000033.4(ABCD1):c.1399G>A (p.Val467Met) rs192525493 0.00009
NM_000038.6(APC):c.95A>G (p.Asn32Ser) rs539108537 0.00009
NM_000051.4(ATM):c.2778A>G (p.Lys926=) rs372569168 0.00009
NM_000051.4(ATM):c.4167A>G (p.Thr1389=) rs183214437 0.00009
NM_000051.4(ATM):c.4414T>G (p.Leu1472Val) rs539676759 0.00009
NM_000051.4(ATM):c.6820G>A (p.Ala2274Thr) rs567060474 0.00009
NM_000059.4(BRCA2):c.2233A>G (p.Lys745Glu) rs374691587 0.00009
NM_000059.4(BRCA2):c.6338A>G (p.Asn2113Ser) rs80358874 0.00009
NM_000059.4(BRCA2):c.9875C>T (p.Pro3292Leu) rs56121817 0.00009
NM_000070.3(CAPN3):c.2361_2362insTC (p.Arg788fs) rs761897806 0.00009
NM_000132.4(F8):c.6089G>A (p.Ser2030Asn) rs369414658 0.00009
NM_000133.4(F9):c.1345C>T (p.Arg449Trp) rs757996262 0.00009
NM_000136.3(FANCC):c.554G>A (p.Arg185Gln) rs370346767 0.00009
NM_000179.3(MSH6):c.1730G>A (p.Arg577His) rs376220212 0.00009
NM_000179.3(MSH6):c.3727A>T (p.Thr1243Ser) rs147453999 0.00009
NM_000179.3(MSH6):c.660A>C (p.Glu220Asp) rs1800938 0.00009
NM_000214.3(JAG1):c.1826C>T (p.Ser609Leu) rs199505265 0.00009
NM_000245.4(MET):c.110T>C (p.Val37Ala) rs201315884 0.00009
NM_000245.4(MET):c.2318C>T (p.Pro773Leu) rs771333219 0.00009
NM_000249.4(MLH1):c.1709A>G (p.Asn570Ser) rs375853155 0.00009
NM_000249.4(MLH1):c.1808C>G (p.Pro603Arg) rs63750876 0.00009
NM_000251.3(MSH2):c.2802G>A (p.Thr934=) rs150259097 0.00009
NM_000260.4(MYO7A):c.1997G>A (p.Arg666Gln) rs782396605 0.00009
NM_000264.5(PTCH1):c.4219G>A (p.Gly1407Ser) rs56161606 0.00009
NM_000268.4(NF2):c.1540A>G (p.Met514Val) rs201527155 0.00009
NM_000302.4(PLOD1):c.1650G>A (p.Thr550=) rs201999965 0.00009
NM_000314.6(PTEN):c.-920G>A rs786204937 0.00009
NM_000335.5(SCN5A):c.2066G>A (p.Arg689His) rs199473145 0.00009
NM_000335.5(SCN5A):c.5686C>T (p.Arg1896Trp) rs45465995 0.00009
NM_000335.5(SCN5A):c.934+4C>T rs182050752 0.00009
NM_000350.3(ABCA4):c.4457C>T (p.Pro1486Leu) rs61750145 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_000443.4(ABCB4):c.1529A>G (p.Asn510Ser) rs375315619 0.00009
NM_000465.4(BARD1):c.1059C>G (p.Pro353=) rs368649242 0.00009
NM_000465.4(BARD1):c.1694G>A (p.Arg565His) rs146946984 0.00009
NM_000465.4(BARD1):c.1904-412A>T rs536758903 0.00009
NM_000492.4(CFTR):c.1000C>T (p.Arg334Trp) rs121909011 0.00009
NM_000492.4(CFTR):c.137C>T (p.Ala46Val) rs151020603 0.00009
NM_000492.4(CFTR):c.2657+2_2657+3insA rs397508414 0.00009
NM_000492.4(CFTR):c.4357C>T (p.Arg1453Trp) rs4148725 0.00009
NM_000747.3(CHRNB1):c.500T>C (p.Met167Thr) rs1284035468 0.00009
NM_001037.5(SCN1B):c.448+189C>A rs766373298 0.00009
NM_001048174.2(MUTYH):c.583A>G (p.Ile195Val) rs200872702 0.00009
NM_001079668.3(NKX2-1):c.1106C>T (p.Ala369Val) rs537209983 0.00009
NM_001080517.3(SETD5):c.2299C>T (p.Arg767Cys) rs183911558 0.00009
NM_001081.4(CUBN):c.9053A>C (p.Tyr3018Ser) rs370778353 0.00009
NM_001113378.2(FANCI):c.3706G>A (p.Val1236Ile) rs377165815 0.00009
NM_001126108.2(SLC12A3):c.1946C>T (p.Thr649Met) rs145337602 0.00009
NM_001199165.4(CEP112):c.2074C>T (p.Arg692Trp) rs149561928 0.00009
NM_001364905.1(LRBA):c.7879T>C (p.Trp2627Arg) rs200295901 0.00009
NM_001370259.2(MEN1):c.511C>T (p.Arg171Trp) rs143329068 0.00009
NM_001370658.1(BTD):c.1395C>G (p.His465Gln) rs201604102 0.00009
NM_001370658.1(BTD):c.262A>G (p.Ile88Val) rs976185636 0.00009
NM_001374385.1(ATP8B1):c.1982T>C (p.Ile661Thr) rs121909100 0.00009
NM_001379451.1(BCORL1):c.2459A>G (p.Asn820Ser) rs398123004 0.00009
NM_002529.4(NTRK1):c.1187C>T (p.Ser396Leu) rs199646180 0.00009
NM_002691.4(POLD1):c.1182C>T (p.Thr394=) rs377462923 0.00009
NM_002691.4(POLD1):c.1596C>T (p.Ala532=) rs550441767 0.00009
NM_002691.4(POLD1):c.2388+5G>A rs750085275 0.00009
NM_002691.4(POLD1):c.3271G>A (p.Asp1091Asn) rs946088822 0.00009
NM_002769.5(PRSS1):c.47C>T (p.Ala16Val) rs202003805 0.00009
NM_003244.4(TGIF1):c.377T>C (p.Val126Ala) rs199580307 0.00009
NM_003690.5(PRKRA):c.665C>T (p.Pro222Leu) rs121434410 0.00009
NM_004004.6(GJB2):c.34G>T (p.Gly12Cys) rs104894408 0.00009
NM_004006.3(DMD):c.4072-106G>A rs372444729 0.00009
NM_004360.5(CDH1):c.1996A>C (p.Asn666His) rs150427791 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_004667.6(HERC2):c.1442C>T (p.Thr481Met) rs200457382 0.00009
NM_005228.5(EGFR):c.2885G>A (p.Arg962His) rs144496976 0.00009
NM_005245.4(FAT1):c.4723G>A (p.Ala1575Thr) rs768661863 0.00009
NM_006397.3(RNASEH2A):c.746C>T (p.Ala249Val) rs758719669 0.00009
NM_007194.4(CHEK2):c.*7T>C rs121908710 0.00009
NM_007194.4(CHEK2):c.319+2T>A rs587782401 0.00009
NM_007194.4(CHEK2):c.349A>G (p.Arg117Gly) rs28909982 0.00009
NM_007194.4(CHEK2):c.444+1G>A rs121908698 0.00009
NM_007194.4(CHEK2):c.751A>T (p.Ile251Phe) rs587780189 0.00009
NM_007294.4(BRCA1):c.2352G>A (p.Ser784=) rs372017932 0.00009
NM_007294.4(BRCA1):c.314A>G (p.Tyr105Cys) rs28897673 0.00009
NM_007294.4(BRCA1):c.5152+20T>A rs376836050 0.00009
NM_013447.4(ADGRE2):c.584G>A (p.Trp195Ter) rs752508886 0.00009
NM_016038.4(SBDS):c.388G>A (p.Val130Met) rs201070132 0.00009
NM_020975.6(RET):c.961G>A (p.Gly321Arg) rs377767388 0.00009
NM_021784.5(FOXA2):c.1001C>T (p.Ala334Val) rs199796119 0.00009
NM_022464.5(SIL1):c.274C>T (p.Arg92Trp) rs149242794 0.00009
NM_024675.4(PALB2):c.1544A>G (p.Lys515Arg) rs515726072 0.00009
NM_024675.4(PALB2):c.2379C>T (p.Gly793=) rs377626805 0.00009
NM_025132.4(WDR19):c.1250-1G>A rs1327583103 0.00009
NM_032043.3(BRIP1):c.316C>T (p.Arg106Cys) rs587780247 0.00009
NM_153026.3(PRICKLE1):c.824C>T (p.Thr275Met) rs559947948 0.00009
NM_177550.5(SLC13A5):c.655G>A (p.Gly219Arg) rs144332569 0.00009
NM_198253.3(TERT):c.2001C>T (p.Tyr667=) rs758494245 0.00009
NM_198253.3(TERT):c.3268G>A (p.Val1090Met) rs121918664 0.00009
NM_206933.4(USH2A):c.13217T>C (p.Leu4406Pro) rs745693690 0.00009
NR_136154.1(PMS2):n.13T>C rs746329908 0.00009
NM_000038.6(APC):c.6724A>G (p.Ser2242Gly) rs201375478 0.00008
NM_000038.6(APC):c.7471A>G (p.Met2491Val) rs375674083 0.00008
NM_000051.4(ATM):c.6503C>T (p.Ser2168Leu) rs200431631 0.00008
NM_000054.7(AVPR2):c.485T>C (p.Val162Ala) rs374461463 0.00008
NM_000057.4(BLM):c.3427G>A (p.Glu1143Lys) rs140387675 0.00008
NM_000059.4(BRCA2):c.517-4C>G rs81002804 0.00008
NM_000059.4(BRCA2):c.9501+3A>T rs61757642 0.00008
NM_000081.4(LYST):c.949G>A (p.Glu317Lys) rs201337542 0.00008
NM_000129.4(F13A1):c.1184C>T (p.Ala395Val) rs76451285 0.00008
NM_000237.3(LPL):c.134C>A (p.Thr45Asn) rs143944126 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_000335.5(SCN5A):c.3536C>T (p.Ala1179Val) rs41310765 0.00008
NM_000402.4(G6PD):c.185A>G (p.His62Arg) rs137852340 0.00008
NM_000402.4(G6PD):c.770G>A (p.Arg257Gln) rs137852328 0.00008
NM_000455.5(STK11):c.920+5G>A rs587780013 0.00008
NM_000465.4(BARD1):c.1339C>G (p.Leu447Val) rs376727038 0.00008
NM_000465.4(BARD1):c.1409A>G (p.Asn470Ser) rs587781976 0.00008
NM_000492.4(CFTR):c.1585-1G>A rs76713772 0.00008
NM_000535.7(PMS2):c.1490G>A (p.Gly497Asp) rs199739859 0.00008
NM_000540.3(RYR1):c.11518G>A (p.Val3840Ile) rs140616359 0.00008
NM_001042432.2(CLN3):c.1213C>T (p.Arg405Trp) rs139842473 0.00008
NM_001048174.2(MUTYH):c.901G>A (p.Val301Met) rs147718169 0.00008
NM_001128840.3(CACNA1D):c.1722G>A (p.Met574Ile) rs373740752 0.00008
NM_001142800.2(EYS):c.5928-2A>G rs181169439 0.00008
NM_001165963.4(SCN1A):c.3714A>C (p.Glu1238Asp) rs121917973 0.00008
NM_001386298.1(CIC):c.133G>A (p.Asp45Asn) rs1044899707 0.00008
NM_001399.5(EDA):c.491A>C (p.Glu164Ala) rs397516663 0.00008
NM_001849.4(COL6A2):c.1970-9G>A rs747900252 0.00008
NM_002485.5(NBN):c.671G>A (p.Gly224Glu) rs199845467 0.00008
NM_002529.4(NTRK1):c.509T>C (p.Val170Ala) rs201503610 0.00008
NM_002878.4(RAD51D):c.355T>C (p.Cys119Arg) rs201313861 0.00008
NM_002878.4(RAD51D):c.973G>A (p.Gly325Ser) rs587780106 0.00008
NM_002907.4(RECQL):c.386G>A (p.Cys129Tyr) rs187203579 0.00008
NM_002968.3(SALL1):c.1738A>G (p.Ile580Val) rs761575154 0.00008
NM_003579.4(RAD54L):c.796G>C (p.Val266Leu) rs139487723 0.00008
NM_003737.4(DCHS1):c.2382G>C (p.Gln794His) rs369091875 0.00008
NM_004006.3(DMD):c.1724T>C (p.Leu575Pro) rs370644567 0.00008
NM_004360.5(CDH1):c.387+5G>A rs113055163 0.00008
NM_004369.4(COL6A3):c.1292C>T (p.Pro431Leu) rs144746928 0.00008
NM_005263.5(GFI1):c.1250C>T (p.Thr417Met) rs777241871 0.00008
NM_005491.5(MAMLD1):c.1151C>T (p.Pro384Leu) rs370173998 0.00008
NM_006231.4(POLE):c.926A>G (p.Asn309Ser) rs767060387 0.00008
NM_006412.4(AGPAT2):c.377dup (p.Pro128fs) rs387906355 0.00008
NM_007194.4(CHEK2):c.1111C>T (p.His371Tyr) rs531398630 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_020975.6(RET):c.2081G>A (p.Arg694Gln) rs141185224 0.00008
NM_020975.6(RET):c.2611G>A (p.Val871Ile) rs145170911 0.00008
NM_022124.6(CDH23):c.415G>A (p.Val139Ile) rs771868822 0.00008
NM_024411.5(PDYN):c.414G>T (p.Arg138Ser) rs267606941 0.00008
NM_024426.6(WT1):c.314C>G (p.Ala105Gly) rs948061247 0.00008
NM_024675.4(PALB2):c.2201C>A (p.Thr734Asn) rs878855107 0.00008
NM_024675.4(PALB2):c.2509G>A (p.Glu837Lys) rs587778587 0.00008
NM_024675.4(PALB2):c.3056T>C (p.Val1019Ala) rs376619846 0.00008
NM_033380.3(COL4A5):c.4246C>T (p.Arg1416Cys) rs104886270 0.00008
NM_138694.4(PKHD1):c.664A>G (p.Ile222Val) rs369925690 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_000033.4(ABCD1):c.1840G>A (p.Gly614Ser) rs146525445 0.00007
NM_000038.6(APC):c.6473C>G (p.Pro2158Arg) rs587779804 0.00007
NM_000038.6(APC):c.8389A>G (p.Ser2797Gly) rs147287751 0.00007
NM_000051.4(ATM):c.125A>G (p.His42Arg) rs201773026 0.00007
NM_000051.4(ATM):c.2021A>G (p.His674Arg) rs201762714 0.00007
NM_000051.4(ATM):c.4658A>C (p.Glu1553Ala) rs587778075 0.00007
NM_000051.4(ATM):c.496+4T>C rs587781375 0.00007
NM_000051.4(ATM):c.749G>A (p.Arg250Gln) rs56123940 0.00007
NM_000057.4(BLM):c.2720C>T (p.Thr907Met) rs367953471 0.00007
NM_000059.4(BRCA2):c.3568C>T (p.Arg1190Trp) rs80358604 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_000132.4(F8):c.5291A>G (p.Gln1764Arg) rs374988541 0.00007
NM_000133.4(F9):c.1346G>A (p.Arg449Gln) rs143018900 0.00007
NM_000136.3(FANCC):c.1642C>T (p.Arg548Ter) rs104886457 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_000243.3(MEFV):c.1958G>A (p.Arg653His) rs104895085 0.00007
NM_000245.4(MET):c.3218C>T (p.Pro1073Leu) rs370529693 0.00007
NM_000245.4(MET):c.803C>T (p.Thr268Ile) rs757427533 0.00007
NM_000251.3(MSH2):c.1045C>G (p.Pro349Ala) rs267607939 0.00007
NM_000264.5(PTCH1):c.3241G>A (p.Val1081Met) rs587778629 0.00007
NM_000292.3(PHKA2):c.3289G>A (p.Gly1097Ser) rs145952475 0.00007
NM_000335.5(SCN5A):c.1336G>A (p.Glu446Lys) rs199473339 0.00007
NM_000335.5(SCN5A):c.4067C>T (p.Ala1356Val) rs370588133 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_000518.5(HBB):c.92+6T>C rs35724775 0.00007
NM_000535.7(PMS2):c.1280G>A (p.Arg427His) rs112902065 0.00007
NM_000535.7(PMS2):c.384G>A (p.Ser128=) rs371342884 0.00007
NM_000548.5(TSC2):c.1656A>G (p.Ala552=) rs373515515 0.00007
NM_001042492.3(NF1):c.4943C>T (p.Thr1648Ile) rs376655102 0.00007
NM_001083116.3(PRF1):c.445G>A (p.Gly149Ser) rs147462227 0.00007
NM_001148.6(ANK2):c.11683G>A (p.Val3895Met) rs72556370 0.00007
NM_001167.4(XIAP):c.962C>G (p.Ala321Gly) rs182340753 0.00007
NM_001298.3(CNGA3):c.829C>T (p.Arg277Cys) rs104893620 0.00007
NM_001379451.1(BCORL1):c.4079_4081del (p.Asp1360_Leu1361delinsVal) rs781578120 0.00007
NM_001875.5(CPS1):c.167T>G (p.Met56Arg) rs778958318 0.00007
NM_002234.4(KCNA5):c.464A>G (p.Tyr155Cys) rs202117321 0.00007
NM_002448.3(MSX1):c.127A>C (p.Met43Leu) rs565664559 0.00007
NM_002454.3(MTRR):c.903+469T>C rs893229476 0.00007
NM_002834.5(PTPN11):c.1678C>T (p.Leu560Phe) rs397516797 0.00007
NM_003244.4(TGIF1):c.289A>G (p.Met97Val) rs369440102 0.00007
NM_004360.5(CDH1):c.854C>T (p.Thr285Ile) rs587781634 0.00007
NM_004387.4(NKX2-5):c.64C>A (p.Gln22Lys) rs764389026 0.00007
NM_004656.4(BAP1):c.1201T>G (p.Tyr401Asp) rs376563004 0.00007
NM_005228.5(EGFR):c.1774G>A (p.Val592Ile) rs144943614 0.00007
NM_005228.5(EGFR):c.1816C>G (p.Leu606Val) rs143152775 0.00007
NM_005245.4(FAT1):c.10331A>G (p.Asn3444Ser) rs188148421 0.00007
NM_005257.6(GATA6):c.151G>A (p.Glu51Lys) rs770662152 0.00007
NM_005591.4(MRE11):c.1960_1979dup (p.Lys661fs) rs587781442 0.00007
NM_006231.4(POLE):c.6331-8C>T rs769766403 0.00007
NM_007194.4(CHEK2):c.1141A>G (p.Met381Val) rs375130261 0.00007
NM_007294.4(BRCA1):c.1865C>T (p.Ala622Val) rs56039126 0.00007
NM_007294.4(BRCA1):c.3783A>G (p.Leu1261=) rs80356831 0.00007
NM_007294.4(BRCA1):c.4358-48A>G rs200393646 0.00007
NM_012452.3(TNFRSF13B):c.118T>C (p.Trp40Arg) rs72553874 0.00007
NM_013447.4(ADGRE2):c.2266G>T (p.Ala756Ser) rs373190699 0.00007
NM_015261.3(NCAPD3):c.4483A>T (p.Lys1495Ter) rs370256378 0.00007
NM_018062.4(FANCL):c.296_297del (p.Gln99fs) rs779544327 0.00007
NM_020975.6(RET):c.1942G>A (p.Val648Ile) rs77711105 0.00007
NM_022469.4(GREM2):c.38C>T (p.Ala13Val) rs373941682 0.00007
NM_024408.4(NOTCH2):c.751+325G>T rs782464243 0.00007
NM_032634.4(PIGO):c.590C>T (p.Pro197Leu) rs150734953 0.00007
NM_033440.3(CELA2A):c.209C>T (p.Thr70Met) rs372947070 0.00007
NM_080425.4(GNAS):c.505C>T (p.Pro169Ser) rs746247739 0.00007
NM_080632.3(UPF3B):c.1101G>C (p.Lys367Asn) rs199727706 0.00007
NM_152443.3(RDH12):c.184C>T (p.Arg62Ter) rs104894471 0.00007
NM_174936.4(PCSK9):c.317G>T (p.Gly106Val) rs370751343 0.00007
NM_177438.3(DICER1):c.1692G>A (p.Ala564=) rs143117334 0.00007
NM_000038.6(APC):c.1139G>A (p.Arg380Gln) rs587782886 0.00006
NM_000038.6(APC):c.2110G>A (p.Val704Ile) rs367804502 0.00006
NM_000038.6(APC):c.4249A>C (p.Ile1417Leu) rs200166878 0.00006
NM_000038.6(APC):c.5026A>G (p.Arg1676Gly) rs370560998 0.00006
NM_000038.6(APC):c.5140G>A (p.Asp1714Asn) rs148275069 0.00006
NM_000038.6(APC):c.7399C>A (p.Pro2467Thr) rs372305287 0.00006
NM_000038.6(APC):c.7577A>G (p.His2526Arg) rs750012595 0.00006
NM_000038.6(APC):c.7888G>A (p.Val2630Ile) rs199688874 0.00006
NM_000051.4(ATM):c.1010G>A (p.Arg337His) rs202160435 0.00006
NM_000051.4(ATM):c.2804C>T (p.Thr935Met) rs3218708 0.00006
NM_000051.4(ATM):c.5352C>T (p.Asn1784=) rs140641762 0.00006
NM_000051.4(ATM):c.6315G>C (p.Arg2105Ser) rs587780632 0.00006
NM_000051.4(ATM):c.7913G>A (p.Trp2638Ter) rs377349459 0.00006
NM_000051.4(ATM):c.8495G>A (p.Arg2832His) rs529296539 0.00006
NM_000051.4(ATM):c.8921C>T (p.Pro2974Leu) rs139379666 0.00006
NM_000051.4(ATM):c.946T>C (p.Tyr316His) rs142317485 0.00006
NM_000057.4(BLM):c.114A>G (p.Lys38=) rs770017301 0.00006
NM_000057.4(BLM):c.2237C>T (p.Ala746Val) rs769498533 0.00006
NM_000057.4(BLM):c.2475G>A (p.Pro825=) rs147587050 0.00006
NM_000057.4(BLM):c.2898C>G (p.Leu966=) rs201220226 0.00006
NM_000057.4(BLM):c.3934G>A (p.Ala1312Thr) rs527291754 0.00006
NM_000059.4(BRCA2):c.1096T>G (p.Leu366Val) rs587779357 0.00006
NM_000059.4(BRCA2):c.1662T>G (p.Cys554Trp) rs80358451 0.00006
NM_000059.4(BRCA2):c.3715A>G (p.Lys1239Glu) rs374191973 0.00006
NM_000059.4(BRCA2):c.7050C>T (p.Thr2350=) rs587780870 0.00006
NM_000085.5(CLCNKB):c.1783C>T (p.Arg595Ter) rs370221310 0.00006
NM_000085.5(CLCNKB):c.610G>A (p.Ala204Thr) rs121909132 0.00006
NM_000085.5(CLCNKB):c.708C>A (p.Tyr236Ter) rs201781905 0.00006
NM_000092.5(COL4A4):c.2756A>G (p.Glu919Gly) rs753208968 0.00006
NM_000093.5(COL5A1):c.4892C>T (p.Thr1631Met) rs764446683 0.00006
NM_000132.4(F8):c.3701A>T (p.His1234Leu) rs145507297 0.00006
NM_000132.4(F8):c.4531G>A (p.Val1511Ile) rs186353717 0.00006
NM_000136.3(FANCC):c.843+5G>A rs369082921 0.00006
NM_000166.6(GJB1):c.37G>A (p.Val13Met) rs104894820 0.00006
NM_000179.3(MSH6):c.1019T>C (p.Phe340Ser) rs61753793 0.00006
NM_000179.3(MSH6):c.1050C>T (p.Ala350=) rs730881802 0.00006
NM_000179.3(MSH6):c.1814C>G (p.Thr605Ser) rs587781616 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_000213.5(ITGB4):c.2834G>A (p.Arg945Gln) rs141953294 0.00006
NM_000238.4(KCNH2):c.2674C>T (p.Arg892Cys) rs201627778 0.00006
NM_000238.4(KCNH2):c.3112G>A (p.Val1038Met) rs199473544 0.00006
NM_000243.3(MEFV):c.1889C>T (p.Pro630Leu) rs376579860 0.00006
NM_000243.3(MEFV):c.2033G>A (p.Gly678Glu) rs104895088 0.00006
NM_000243.3(MEFV):c.2082G>A (p.Met694Ile) rs28940578 0.00006
NM_000243.3(MEFV):c.866C>T (p.Ala289Val) rs104895132 0.00006
NM_000249.4(MLH1):c.1013A>G (p.Asn338Ser) rs63751467 0.00006
NM_000249.4(MLH1):c.1360G>C (p.Gly454Arg) rs63750527 0.00006
NM_000249.4(MLH1):c.1989+37T>C rs374195343 0.00006
NM_000249.4(MLH1):c.207+523G>A rs760066426 0.00006
NM_000249.4(MLH1):c.453G>A (p.Thr151=) rs369521379 0.00006
NM_000249.4(MLH1):c.955G>A (p.Glu319Lys) rs63750796 0.00006
NM_000251.3(MSH2):c.382C>G (p.Leu128Val) rs145649774 0.00006
NM_000251.3(MSH2):c.499G>C (p.Asp167His) rs63750255 0.00006
NM_000256.3(MYBPC3):c.1000G>A (p.Glu334Lys) rs573916965 0.00006
NM_000256.3(MYBPC3):c.2197C>T (p.Arg733Cys) rs397515956 0.00006
NM_000256.3(MYBPC3):c.2761C>G (p.Gln921Glu) rs367729718 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_000275.3(OCA2):c.2359G>A (p.Ala787Thr) rs142988897 0.00006
NM_000284.4(PDHA1):c.16G>A (p.Ala6Thr) rs768396832 0.00006
NM_000321.3(RB1):c.2360G>A (p.Arg787Gln) rs748094394 0.00006
NM_000335.5(SCN5A):c.3068G>A (p.Arg1023His) rs199473592 0.00006
NM_000335.5(SCN5A):c.393-5C>A rs368678204 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_000335.5(SCN5A):c.5689C>T (p.Arg1897Cys) rs373118001 0.00006
NM_000384.3(APOB):c.10579C>T (p.Arg3527Trp) rs144467873 0.00006
NM_000400.4(ERCC2):c.946C>G (p.Gln316Glu) rs757790912 0.00006
NM_000410.4(HFE):c.175G>A (p.Val59Met) rs111033557 0.00006
NM_000441.2(SLC26A4):c.1454C>T (p.Thr485Met) rs370029782 0.00006
NM_000451.4(SHOX):c.295G>C (p.Glu99Gln) rs768170715 0.00006
NM_000455.5(STK11):c.842C>T (p.Pro281Leu) rs121913322 0.00006
NM_000455.5(STK11):c.992G>A (p.Arg331Gln) rs371264852 0.00006
NM_000465.4(BARD1):c.1973G>A (p.Arg658His) rs377227840 0.00006
NM_000465.4(BARD1):c.716T>A (p.Leu239Gln) rs200359745 0.00006
NM_000465.4(BARD1):c.722C>G (p.Ser241Cys) rs3738885 0.00006
NM_000492.4(CFTR):c.1519A>G (p.Ile507Val) rs1801178 0.00006
NM_000492.4(CFTR):c.1646G>A (p.Ser549Asn) rs121908755 0.00006
NM_000492.4(CFTR):c.1675G>A (p.Ala559Thr) rs75549581 0.00006
NM_000492.4(CFTR):c.254G>A (p.Gly85Glu) rs75961395 0.00006
NM_000492.4(CFTR):c.2657+5G>A rs80224560 0.00006
NM_000492.4(CFTR):c.3140-26A>G rs76151804 0.00006
NM_000492.4(CFTR):c.3196C>T (p.Arg1066Cys) rs78194216 0.00006
NM_000492.4(CFTR):c.3209G>A (p.Arg1070Gln) rs78769542 0.00006
NM_000492.4(CFTR):c.4232A>C (p.Gln1411Pro) rs150177304 0.00006
NM_000492.4(CFTR):c.571T>G (p.Phe191Val) rs141482808 0.00006
NM_000501.4(ELN):c.1150+1G>A rs727503030 0.00006
NM_000518.5(HBB):c.79G>A (p.Glu27Lys) rs33950507 0.00006
NM_000527.5(LDLR):c.2282C>T (p.Thr761Met) rs138477254 0.00006
NM_000532.5(PCCB):c.1228C>T (p.Arg410Trp) rs121964959 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_001005242.3(PKP2):c.1444A>G (p.Thr482Ala) rs397516999 0.00006
NM_001009944.3(PKD1):c.6878C>T (p.Pro2293Leu) rs530832015 0.00006
NM_001009944.3(PKD1):c.7321G>A (p.Gly2441Ser) rs376618983 0.00006
NM_001042492.3(NF1):c.7006G>A (p.Ala2336Thr) rs587781428 0.00006
NM_001042492.3(NF1):c.8395G>A (p.Val2799Ile) rs377393842 0.00006
NM_001048174.2(MUTYH):c.1156C>T (p.Gln386Ter) rs766420907 0.00006
NM_001061.7(TBXAS1):c.1417G>T (p.Gly473Trp) rs149988492 0.00006
NM_001079668.3(NKX2-1):c.1054G>A (p.Gly352Ser) rs200560568 0.00006
NM_001083116.3(PRF1):c.632C>T (p.Ala211Val) rs368524364 0.00006
NM_001105247.2(ARMC5):c.1039C>T (p.Pro347Ser) rs79238971 0.00006
NM_001134363.3(RBM20):c.3545G>A (p.Arg1182His) rs563762318 0.00006
NM_001142800.2(EYS):c.35T>C (p.Met12Thr) rs755947942 0.00006
NM_001142800.2(EYS):c.9392G>C (p.Gly3131Ala) rs772888249 0.00006
NM_001142800.2(EYS):c.9405T>A (p.Tyr3135Ter) rs137853190 0.00006
NM_001171.6(ABCC6):c.2278C>T (p.Arg760Trp) rs72653788 0.00006
NM_001184880.2(PCDH19):c.2873G>A (p.Arg958Gln) rs748581653 0.00006
NM_001267550.2(TTN):c.-71G>A rs368880755 0.00006
NM_001358530.2(MOCS1):c.1468C>T (p.Arg490Trp) rs201889779 0.00006
NM_001370259.2(MEN1):c.803A>G (p.Tyr268Cys) rs773500082 0.00006
NM_001378969.1(KCND3):c.1348C>T (p.Leu450Phe) rs150401343 0.00006
NM_002016.2(FLG):c.3905C>A (p.Ser1302Ter) rs754812742 0.00006
NM_002016.2(FLG):c.4544C>A (p.Ser1515Ter) rs180768115 0.00006
NM_002016.2(FLG):c.7264G>T (p.Glu2422Ter) rs374588791 0.00006
NM_002016.2(FLG):c.9085C>T (p.Gln3029Ter) rs564628353 0.00006
NM_002168.4(IDH2):c.419G>A (p.Arg140Gln) rs121913502 0.00006
NM_002485.5(NBN):c.1198G>A (p.Ala400Thr) rs551602980 0.00006
NM_002878.4(RAD51D):c.263+1641C>T rs142387263 0.00006
NM_002878.4(RAD51D):c.263+7G>A rs56218020 0.00006
NM_002878.4(RAD51D):c.715C>T (p.Arg239Trp) rs770250516 0.00006
NM_002878.4(RAD51D):c.957G>A (p.Gln319=) rs147669627 0.00006
NM_002907.4(RECQL):c.17-15C>T rs200928682 0.00006
NM_002907.4(RECQL):c.395-7C>T rs760078101 0.00006
NM_003000.3(SDHB):c.112C>T (p.Arg38Cys) rs202119350 0.00006
NM_003042.4(SLC6A1):c.830G>A (p.Arg277His) rs752396911 0.00006
NM_003227.4(TFR2):c.1118G>A (p.Gly373Asp) rs202221581 0.00006
NM_003242.6(TGFBR2):c.985G>A (p.Ala329Thr) rs148665451 0.00006
NM_003466.4(PAX8):c.1028A>G (p.Asn343Ser) rs374652916 0.00006
NM_003482.4(KMT2D):c.14893G>A (p.Ala4965Thr) rs200747934 0.00006
NM_003560.4(PLA2G6):c.1495G>A (p.Ala499Thr) rs141045127 0.00006
NM_003560.4(PLA2G6):c.2370T>G (p.Tyr790Ter) rs121908680 0.00006
NM_003977.4(AIP):c.145G>A (p.Val49Met) rs1063385 0.00006
NM_004004.6(GJB2):c.23C>T (p.Thr8Met) rs529500747 0.00006
NM_004004.6(GJB2):c.493C>T (p.Arg165Trp) rs376898963 0.00006
NM_004092.4(ECHS1):c.583G>A (p.Gly195Ser) rs761989177 0.00006
NM_004360.5(CDH1):c.214G>A (p.Asp72Asn) rs35606263 0.00006
NM_004360.5(CDH1):c.393C>T (p.Ser131=) rs145430811 0.00006
NM_004933.3(CDH15):c.568C>T (p.Arg190Trp) rs137923863 0.00006
NM_004958.4(MTOR):c.889G>A (p.Asp297Asn) rs141936187 0.00006
NM_005431.2(XRCC2):c.39+8C>G rs200363289 0.00006
NM_005431.2(XRCC2):c.509A>C (p.Glu170Ala) rs778143946 0.00006
NM_005431.2(XRCC2):c.643C>T (p.Arg215Ter) rs143153871 0.00006
NM_006005.3(WFS1):c.28C>T (p.Pro10Ser) rs760256649 0.00006
NM_006231.4(POLE):c.1288G>A (p.Ala430Thr) rs140566004 0.00006
NM_006231.4(POLE):c.3054C>T (p.Tyr1018=) rs201249963 0.00006
NM_006231.4(POLE):c.4901G>A (p.Arg1634His) rs760149463 0.00006
NM_006343.3(MERTK):c.1296+1G>A rs774577413 0.00006
NM_006514.4(SCN10A):c.599+1G>A rs75991777 0.00006
NM_006623.4(PHGDH):c.1468G>A (p.Val490Met) rs121907987 0.00006
NM_007129.5(ZIC2):c.*954T>A rs760662121 0.00006
NM_007194.4(CHEK2):c.1556G>T (p.Arg519Leu) rs587780180 0.00006
NM_007194.4(CHEK2):c.539G>A (p.Arg180His) rs137853009 0.00006
NM_007194.4(CHEK2):c.542G>A (p.Arg181His) rs121908701 0.00006
NM_007294.4(BRCA1):c.135-3T>C rs759417413 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_012281.3(KCND2):c.1834G>A (p.Asp612Asn) rs151258092 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_014026.6(DCPS):c.947C>T (p.Thr316Met) rs137941190 0.00006
NM_014271.4(IL1RAPL1):c.1910C>G (p.Thr637Ser) rs756672167 0.00006
NM_014585.6(SLC40A1):c.695C>A (p.Ala232Asp) rs760236238 0.00006
NM_015443.4(KANSL1):c.868C>T (p.Arg290Ter) rs149830411 0.00006
NM_015937.6(PIGT):c.1582G>A (p.Val528Met) rs771157170 0.00006
NM_015937.6(PIGT):c.494-2A>G rs200790673 0.00006
NM_016213.5(TRIP4):c.925C>T (p.Arg309Ter) rs147303485 0.00006
NM_016239.4(MYO15A):c.3524dup (p.Ser1176fs) rs766187994 0.00006
NM_017617.5(NOTCH1):c.1945C>A (p.Pro649Thr) rs780710009 0.00006
NM_018646.6(TRPV6):c.668T>C (p.Ile223Thr) rs529924080 0.00006
NM_020158.4(EXOSC5):c.341C>T (p.Thr114Ile) rs542429051 0.00006
NM_020320.5(RARS2):c.35A>G (p.Gln12Arg) rs147391618 0.00006
NM_020647.4(JPH1):c.638G>C (p.Arg213Pro) rs201314759 0.00006
NM_020822.3(KCNT1):c.3502+1584G>A rs759235951 0.00006
NM_020975.6(RET):c.1597G>A (p.Gly533Ser) rs75873440 0.00006
NM_020975.6(RET):c.2116G>A (p.Val706Met) rs137855422 0.00006
NM_020975.6(RET):c.2527G>A (p.Glu843Lys) rs755837568 0.00006
NM_024426.6(WT1):c.162C>G (p.Ser54Arg) rs776954184 0.00006
NM_024675.4(PALB2):c.1001A>G (p.Tyr334Cys) rs200620434 0.00006
NM_024675.4(PALB2):c.109C>A (p.Arg37Ser) rs200048921 0.00006
NM_024675.4(PALB2):c.1935G>A (p.Glu645=) rs141707455 0.00006
NM_024675.4(PALB2):c.3428T>A (p.Leu1143His) rs62625284 0.00006
NM_024675.4(PALB2):c.560C>A (p.Pro187His) rs371582757 0.00006
NM_024675.4(PALB2):c.768C>T (p.Ser256=) rs45487491 0.00006
NM_024876.4(COQ8B):c.1560G>A (p.Trp520Ter) rs369205319 0.00006
NM_030773.4(TUBB1):c.35del (p.Cys12fs) rs773248042 0.00006
NM_030973.4(MED25):c.418C>T (p.Arg140Trp) rs781140315 0.00006
NM_032043.3(BRIP1):c.-22C>A rs377620948 0.00006
NM_032043.3(BRIP1):c.2232C>T (p.Asp744=) rs374362388 0.00006
NM_032119.4(ADGRV1):c.17668_17669del (p.Met5890fs) rs757696771 0.00006
NM_032119.4(ADGRV1):c.1797A>T (p.Arg599Ser) rs200058876 0.00006
NM_032444.4(SLX4):c.2941G>A (p.Gly981Arg) rs546628836 0.00006
NM_033343.4(LHX4):c.1165C>A (p.Pro389Thr) rs145433128 0.00006
NM_058195.4(CDKN2A):c.160C>A (p.Arg54Ser) rs896054565 0.00006
NM_058216.3(RAD51C):c.870T>A (p.Ile290=) rs376402418 0.00006
NM_133497.4(KCNV2):c.647T>C (p.Ile216Thr) rs558295858 0.00006
NM_138387.4(G6PC3):c.778G>C (p.Gly260Arg) rs200478425 0.00006
NM_152419.3(HGSNAT):c.1297A>G (p.Asn433Asp) rs371469177 0.00006
NM_153212.3(GJB4):c.386G>A (p.Trp129Ter) rs148182439 0.00006
NM_198253.3(TERT):c.2177C>T (p.Thr726Met) rs149566858 0.00006
NM_198947.4(FAM111B):c.368_369insCT (p.Gln124fs) rs767223238 0.00006
NM_198994.3(TGM6):c.1550T>G (p.Leu517Trp) rs387907097 0.00006
NM_203447.4(DOCK8):c.1865A>G (p.Asn622Ser) rs766901544 0.00006
NM_206933.4(USH2A):c.2802T>G (p.Cys934Trp) rs201527662 0.00006
NC_000012.12:g.57752350C>T rs1280668662 0.00005
NM_000033.4(ABCD1):c.55G>T (p.Ala19Ser) rs965462099 0.00005
NM_000033.4(ABCD1):c.854G>A (p.Arg285His) rs782635828 0.00005
NM_000038.6(APC):c.1553C>T (p.Thr518Met) rs371453363 0.00005
NM_000038.6(APC):c.3625G>A (p.Glu1209Lys) rs201185479 0.00005
NM_000038.6(APC):c.4372C>T (p.Pro1458Ser) rs143796828 0.00005
NM_000038.6(APC):c.5879C>T (p.Pro1960Leu) rs587781546 0.00005
NM_000051.4(ATM):c.2770C>T (p.Arg924Trp) rs55723361 0.00005
NM_000051.4(ATM):c.3403-14_3403-13del rs1565441205 0.00005
NM_000053.4(ATP7B):c.1285+5G>T rs370579582 0.00005
NM_000057.4(BLM):c.934T>G (p.Ser312Ala) rs372454889 0.00005
NM_000059.4(BRCA2):c.3539A>G (p.Lys1180Arg) rs28897720 0.00005
NM_000059.4(BRCA2):c.6024G>C (p.Lys2008Asn) rs56324666 0.00005
NM_000059.4(BRCA2):c.8092G>A (p.Ala2698Thr) rs80359052 0.00005
NM_000059.4(BRCA2):c.9275A>G (p.Tyr3092Cys) rs80359195 0.00005
NM_000077.5(CDKN2A):c.160A>C (p.Met54Leu) rs201314211 0.00005
NM_000094.4(COL7A1):c.7864C>T (p.Arg2622Trp) rs139318843 0.00005
NM_000123.4(ERCC5):c.1571C>T (p.Pro524Leu) rs201684551 0.00005
NM_000132.4(F8):c.121G>T (p.Gly41Cys) rs137852379 0.00005
NM_000132.4(F8):c.2150G>A (p.Arg717Gln) rs942909873 0.00005
NM_000132.4(F8):c.2840C>G (p.Pro947Arg) rs782318401 0.00005
NM_000132.4(F8):c.5024A>G (p.Gln1675Arg) rs782280813 0.00005
NM_000132.4(F8):c.6374G>C (p.Ser2125Thr) rs782363141 0.00005
NM_000133.4(F9):c.1048T>G (p.Ser350Ala) rs147567879 0.00005
NM_000136.3(FANCC):c.1329+306C>T rs185023012 0.00005
NM_000136.3(FANCC):c.1406C>T (p.Thr469Met) rs149917017 0.00005
NM_000136.3(FANCC):c.395C>G (p.Ala132Gly) rs587779905 0.00005
NM_000156.6(GAMT):c.59G>C (p.Trp20Ser) rs80338734 0.00005
NM_000158.4(GBE1):c.1544G>A (p.Arg515His) rs201958741 0.00005
NM_000159.4(GCDH):c.881G>A (p.Arg294Gln) rs775606471 0.00005
NM_000179.3(MSH6):c.1844G>C (p.Cys615Ser) rs730881793 0.00005
NM_000179.3(MSH6):c.2173A>G (p.Ile725Val) rs148898662 0.00005
NM_000179.3(MSH6):c.2347T>A (p.Cys783Ser) rs373721483 0.00005
NM_000179.3(MSH6):c.3513T>C (p.Asp1171=) rs63749834 0.00005
NM_000238.4(KCNH2):c.2684C>T (p.Thr895Met) rs199473434 0.00005
NM_000238.4(KCNH2):c.274C>T (p.Arg92Cys) rs563611707 0.00005
NM_000245.4(MET):c.100G>A (p.Glu34Lys) rs764246939 0.00005
NM_000245.4(MET):c.1988C>T (p.Ser663Leu) rs376459715 0.00005
NM_000245.4(MET):c.4007G>A (p.Arg1336Gln) rs369312680 0.00005
NM_000245.4(MET):c.789G>A (p.Thr263=) rs554190225 0.00005
NM_000249.4(MLH1):c.1153C>T (p.Arg385Cys) rs63750760 0.00005
NM_000249.4(MLH1):c.1154G>A (p.Arg385His) rs63750430 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_000251.3(MSH2):c.843A>T (p.Ser281=) rs150197753 0.00005
NM_000260.4(MYO7A):c.268C>T (p.Arg90Trp) rs781834630 0.00005
NM_000268.4(NF2):c.947T>G (p.Leu316Trp) rs750633919 0.00005
NM_000276.4(OCRL):c.2245G>T (p.Ala749Ser) rs751678290 0.00005
NM_000285.4(PEPD):c.977G>A (p.Trp326Ter) rs529315200 0.00005
NM_000310.4(PPT1):c.413C>T (p.Ser138Leu) rs386833646 0.00005
NM_000335.5(SCN5A):c.1735G>A (p.Gly579Arg) rs199473128 0.00005
NM_000350.3(ABCA4):c.1294G>A (p.Glu432Lys) rs201117452 0.00005
NM_000350.3(ABCA4):c.4417C>A (p.Leu1473Met) rs142732109 0.00005
NM_000377.3(WAS):c.1081C>A (p.Pro361Thr) rs201657175 0.00005
NM_000443.4(ABCB4):c.1481G>A (p.Arg494His) rs753652201 0.00005
NM_000451.4(SHOX):c.-65C>A rs922062046 0.00005
NM_000455.5(STK11):c.375-7G>A rs587781176 0.00005
NM_000465.4(BARD1):c.1268A>G (p.Lys423Arg) rs749383704 0.00005
NM_000465.4(BARD1):c.841C>T (p.Pro281Ser) rs200059956 0.00005
NM_000492.4(CFTR):c.1399C>T (p.Leu467Phe) rs1800089 0.00005
NM_000492.4(CFTR):c.2057C>A (p.Ser686Tyr) rs201444561 0.00005
NM_000492.4(CFTR):c.3469-20T>C rs373002889 0.00005
NM_000520.6(HEXA):c.533G>A (p.Arg178His) rs28941770 0.00005
NM_000531.6(OTC):c.148G>A (p.Gly50Arg) rs67486158 0.00005
NM_000532.5(PCCB):c.683C>T (p.Pro228Leu) rs374722096 0.00005
NM_000535.7(PMS2):c.1432A>G (p.Ser478Gly) rs144389038 0.00005
NM_001034853.2(RPGR):c.865A>G (p.Ile289Val) rs62640587 0.00005
NM_001048174.2(MUTYH):c.630C>T (p.Asn210=) rs767327888 0.00005
NM_001135146.2(SLC39A8):c.610G>T (p.Gly204Cys) rs779241085 0.00005
NM_001142800.2(EYS):c.1765A>G (p.Arg589Gly) rs778030177 0.00005
NM_001184.4(ATR):c.1261A>G (p.Ser421Gly) rs372973014 0.00005
NM_001330360.2(POLA1):c.169-10A>G rs998607228 0.00005
NM_001349338.3(FOXP1):c.179A>G (p.Gln60Arg) rs374060287 0.00005
NM_001363118.2(SLC52A2):c.383C>T (p.Ser128Leu) rs374071862 0.00005
NM_001382430.1(AKT1):c.570C>T (p.Asp190=) rs780207480 0.00005
NM_002637.4(PHKA1):c.3364G>C (p.Glu1122Gln) rs202007590 0.00005
NM_002878.4(RAD51D):c.-126C>T rs781135655 0.00005
NM_003000.3(SDHB):c.200+7A>G rs371329778 0.00005
NM_003244.4(TGIF1):c.83C>G (p.Ser28Cys) rs121909066 0.00005
NM_004453.4(ETFDH):c.295C>T (p.Arg99Cys) rs371493232 0.00005
NM_004606.5(TAF1):c.428C>T (p.Pro143Leu) rs767354861 0.00005
NM_004700.4(KCNQ4):c.648C>T (p.Arg216=) rs80358269 0.00005
NM_004933.3(CDH15):c.100del (p.Trp34fs) rs770141326 0.00005
NM_005027.4(PIK3R2):c.1076G>C (p.Ser359Thr) rs1041937206 0.00005
NM_006231.4(POLE):c.1735C>T (p.Arg579Cys) rs116260568 0.00005
NM_006231.4(POLE):c.2645A>G (p.Asn882Ser) rs539312991 0.00005
NM_006231.4(POLE):c.6668A>G (p.Lys2223Arg) rs367970442 0.00005
NM_006269.2(RP1):c.1186C>T (p.Arg396Ter) rs201493928 0.00005
NM_006303.4(AIMP2):c.575-2A>G rs869312968 0.00005
NM_006506.5(RASA2):c.807A>T (p.Leu269=) rs757160095 0.00005
NM_007194.4(CHEK2):c.433C>T (p.Arg145Trp) rs137853007 0.00005
NM_007294.4(BRCA1):c.301+55G>A rs868735744 0.00005
NM_007294.4(BRCA1):c.5117G>C (p.Gly1706Ala) rs80356860 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_020975.6(RET):c.452A>G (p.Asn151Ser) rs150261092 0.00005
NM_021625.5(TRPV4):c.1885G>A (p.Ala629Thr) rs200838499 0.00005
NM_032043.3(BRIP1):c.3567T>C (p.Asp1189=) rs764848326 0.00005
NM_033337.3(CAV3):c.244G>A (p.Val82Ile) rs112626848 0.00005
NM_033380.3(COL4A5):c.1871G>A (p.Gly624Asp) rs104886142 0.00005
NM_152443.3(RDH12):c.278T>C (p.Leu93Pro) rs527800020 0.00005
NM_172369.5(C1QC):c.100G>A (p.Gly34Arg) rs200206736 0.00005
NM_173495.3(PTCHD1):c.217C>T (p.Leu73Phe) rs373105249 0.00005
NM_198994.3(TGM6):c.1528G>C (p.Asp510His) rs201964784 0.00005
NM_000038.6(APC):c.1762G>A (p.Val588Ile) rs372416031 0.00004
NM_000038.6(APC):c.2627G>A (p.Arg876Gln) rs373428732 0.00004
NM_000038.6(APC):c.2948T>C (p.Ile983Thr) rs113674464 0.00004
NM_000038.6(APC):c.7099A>G (p.Thr2367Ala) rs772778630 0.00004
NM_000038.6(APC):c.7786T>G (p.Ser2596Ala) rs138137162 0.00004
NM_000044.6(AR):c.1063G>C (p.Glu355Gln) rs367604031 0.00004
NM_000051.4(ATM):c.1516G>T (p.Gly506Cys) rs587779816 0.00004
NM_000051.4(ATM):c.2413C>T (p.Arg805Ter) rs780619951 0.00004
NM_000051.4(ATM):c.3154-5C>T rs55719759 0.00004
NM_000051.4(ATM):c.4148C>T (p.Ser1383Leu) rs141087784 0.00004
NM_000051.4(ATM):c.7816A>G (p.Ile2606Val) rs376824528 0.00004
NM_000051.4(ATM):c.8147T>C (p.Val2716Ala) rs587782652 0.00004
NM_000057.4(BLM):c.3556A>G (p.Lys1186Glu) rs750532596 0.00004
NM_000059.4(BRCA2):c.-41G>A rs879255312 0.00004
NM_000059.4(BRCA2):c.1181A>C (p.Glu394Ala) rs56016241 0.00004
NM_000059.4(BRCA2):c.280C>T (p.Pro94Ser) rs80358531 0.00004
NM_000059.4(BRCA2):c.2987T>G (p.Leu996Arg) rs80358545 0.00004
NM_000059.4(BRCA2):c.3032C>G (p.Thr1011Arg) rs80358548 0.00004
NM_000059.4(BRCA2):c.4570T>G (p.Phe1524Val) rs56386506 0.00004
NM_000059.4(BRCA2):c.5303_5304del (p.Leu1768fs) rs80359505 0.00004
NM_000059.4(BRCA2):c.6290C>T (p.Thr2097Met) rs80358866 0.00004
NM_000059.4(BRCA2):c.62A>G (p.Lys21Arg) rs397507367 0.00004
NM_000059.4(BRCA2):c.7522G>A (p.Gly2508Ser) rs80358978 0.00004
NM_000059.4(BRCA2):c.8036A>G (p.Asp2679Gly) rs80359041 0.00004
NM_000059.4(BRCA2):c.8702G>A (p.Gly2901Asp) rs80359129 0.00004
NM_000059.4(BRCA2):c.8918G>A (p.Arg2973His) rs80359143 0.00004
NM_000059.4(BRCA2):c.9382C>T (p.Arg3128Ter) rs80359212 0.00004
NM_000059.4(BRCA2):c.9677A>G (p.Tyr3226Cys) rs80359237 0.00004
NM_000077.5(CDKN2A):c.197A>G (p.His66Arg) rs756750256 0.00004
NM_000083.3(CLCN1):c.1167-10T>C rs543120965 0.00004
NM_000083.3(CLCN1):c.2578G>A (p.Val860Ile) rs767209392 0.00004
NM_000085.5(CLCNKB):c.1309G>A (p.Gly437Arg) rs755714542 0.00004
NM_000085.5(CLCNKB):c.910C>T (p.Arg304Ter) rs377215024 0.00004
NM_000092.5(COL4A4):c.2320G>C (p.Gly774Arg) rs569681869 0.00004
NM_000092.5(COL4A4):c.4394G>A (p.Gly1465Asp) rs533297350 0.00004
NM_000098.3(CPT2):c.534_539del (p.Leu178_Pro180delinsPhe) rs772240606 0.00004
NM_000122.2(ERCC3):c.1828-35C>T rs1444307407 0.00004
NM_000132.4(F8):c.4828G>T (p.Ala1610Ser) rs782127226 0.00004
NM_000132.4(F8):c.6067G>A (p.Glu2023Lys) rs781886601 0.00004
NM_000133.4(F9):c.316G>A (p.Gly106Ser) rs137852233 0.00004
NM_000136.3(FANCC):c.28T>G (p.Cys10Gly) rs147479204 0.00004
NM_000162.5(GCK):c.836A>G (p.Glu279Gly) rs143484733 0.00004
NM_000166.6(GJB1):c.677A>G (p.Asn226Ser) rs781312706 0.00004
NM_000179.3(MSH6):c.107C>T (p.Ala36Val) rs61756469 0.00004
NM_000179.3(MSH6):c.1661G>A (p.Arg554His) rs730881791 0.00004
NM_000179.3(MSH6):c.2408A>G (p.Asp803Gly) rs63751450 0.00004
NM_000179.3(MSH6):c.4004A>C (p.Glu1335Ala) rs564434147 0.00004
NM_000216.4(ANOS1):c.255+5G>A rs773138384 0.00004
NM_000237.3(LPL):c.373G>A (p.Ala125Thr) rs199675233 0.00004
NM_000237.3(LPL):c.662T>C (p.Ile221Thr) rs118204061 0.00004
NM_000243.3(MEFV):c.1532C>T (p.Ala511Val) rs144270019 0.00004
NM_000243.3(MEFV):c.501G>C (p.Glu167Asp) rs104895079 0.00004
NM_000243.3(MEFV):c.775A>G (p.Ile259Val) rs104895144 0.00004
NM_000245.4(MET):c.2825C>T (p.Ser942Leu) rs375576430 0.00004
NM_000245.4(MET):c.428G>A (p.Arg143Gln) rs35469582 0.00004
NM_000249.4(MLH1):c.1270G>A (p.Ala424Thr) rs377433038 0.00004
NM_000249.4(MLH1):c.1565G>A (p.Arg522Gln) rs63751630 0.00004
NM_000249.4(MLH1):c.2252A>G (p.Lys751Arg) rs140195825 0.00004
NM_000249.4(MLH1):c.381-43C>G rs368847278 0.00004
NM_000251.3(MSH2):c.2516A>G (p.His839Arg) rs63750027 0.00004
NM_000251.3(MSH2):c.287G>A (p.Arg96His) rs63750002 0.00004
NM_000256.3(MYBPC3):c.104G>A (p.Arg35Gln) rs397515885 0.00004
NM_000256.3(MYBPC3):c.2311G>A (p.Val771Met) rs371488302 0.00004
NM_000256.3(MYBPC3):c.3065G>C (p.Arg1022Pro) rs397516000 0.00004
NM_000256.3(MYBPC3):c.787G>A (p.Gly263Arg) rs373730381 0.00004
NM_000256.3(MYBPC3):c.82G>A (p.Val28Met) rs776834755 0.00004
NM_000260.4(MYO7A):c.1901G>A (p.Arg634Gln) rs781812509 0.00004
NM_000260.4(MYO7A):c.3508G>A (p.Glu1170Lys) rs111033214 0.00004
NM_000297.4(PKD2):c.1444T>G (p.Phe482Val) rs201504575 0.00004
NM_000321.3(RB1):c.1814+11T>C rs771369373 0.00004
NM_000330.4(RS1):c.522+5G>A rs200074383 0.00004
NM_000335.5(SCN5A):c.1652C>T (p.Ala551Val) rs201641342 0.00004
NM_000335.5(SCN5A):c.569G>A (p.Arg190Gln) rs199473069 0.00004
NM_000335.5(SCN5A):c.677C>T (p.Ala226Val) rs199473561 0.00004
NM_000338.3(SLC12A1):c.905G>A (p.Arg302Gln) rs747229048 0.00004
NM_000352.6(ABCC8):c.2041-21G>A rs746714109 0.00004
NM_000358.3(TGFBI):c.367G>C (p.Asp123His) rs541270955 0.00004
NM_000371.4(TTR):c.262A>T (p.Ile88Leu) rs121918085 0.00004
NM_000376.3(VDR):c.217C>T (p.Arg73Ter) rs980041568 0.00004
NM_000376.3(VDR):c.218G>A (p.Arg73Gln) rs121909791 0.00004
NM_000398.7(CYB5R3):c.464-2A>C rs794728013 0.00004
NM_000402.4(G6PD):c.1039G>A (p.Glu347Lys) rs137852339 0.00004
NM_000402.4(G6PD):c.583A>G (p.Asn195Asp) rs137852331 0.00004
NM_000443.4(ABCB4):c.2217T>G (p.Phe739Leu) rs143456575 0.00004
NM_000444.6(PHEX):c.1359A>C (p.Glu453Asp) rs202164519 0.00004
NM_000447.3(PSEN2):c.505C>A (p.His169Asn) rs533813519 0.00004
NM_000451.4(SHOX):c.190G>C (p.Gly64Arg) rs371578837 0.00004
NM_000451.4(SHOX):c.56G>A (p.Gly19Asp) rs748023493 0.00004
NM_000455.5(STK11):c.-167C>T rs1273032629 0.00004
NM_000455.5(STK11):c.613G>A (p.Ala205Thr) rs730881981 0.00004
NM_000455.5(STK11):c.795G>A (p.Glu265=) rs730881963 0.00004
NM_000465.4(BARD1):c.160A>G (p.Thr54Ala) rs200254470 0.00004
NM_000465.4(BARD1):c.2291T>C (p.Ile764Thr) rs587780030 0.00004
NM_000465.4(BARD1):c.353A>G (p.Asn118Ser) rs142864491 0.00004
NM_000478.6(ALPL):c.529G>A (p.Ala177Thr) rs199669988 0.00004
NM_000492.4(CFTR):c.1766+1G>A rs121908748 0.00004
NM_000492.4(CFTR):c.200C>T (p.Pro67Leu) rs368505753 0.00004
NM_000492.4(CFTR):c.2375G>A (p.Arg792Gln) rs369040061 0.00004
NM_000492.4(CFTR):c.2834C>T (p.Ser945Leu) rs397508442 0.00004
NM_000492.4(CFTR):c.3169A>G (p.Thr1057Ala) rs397508511 0.00004
NM_000492.4(CFTR):c.3468G>T (p.Leu1156Phe) rs139729994 0.00004
NM_000492.4(CFTR):c.3484C>T (p.Arg1162Ter) rs74767530 0.00004
NM_000492.4(CFTR):c.579+1G>T rs77188391 0.00004
NM_000497.4(CYP11B1):c.956C>T (p.Thr319Met) rs104894068 0.00004
NM_000500.9(CYP21A2):c.1273G>A (p.Gly425Ser) rs72552758 0.00004
NM_000520.6(HEXA):c.1496G>A (p.Arg499His) rs121907956 0.00004
NM_000527.5(LDLR):c.1359-5C>G rs531005522 0.00004
NM_000527.5(LDLR):c.2072C>T (p.Ser691Leu) rs369943481 0.00004
NM_000527.5(LDLR):c.940G>A (p.Gly314Arg) rs72658858 0.00004
NM_000535.7(PMS2):c.1211C>G (p.Pro404Arg) rs536111818 0.00004
NM_000535.7(PMS2):c.1501G>A (p.Val501Met) rs540287433 0.00004
NM_000535.7(PMS2):c.2347G>A (p.Val783Ile) rs553286217 0.00004
NM_000535.7(PMS2):c.475G>A (p.Val159Met) rs142416537 0.00004
NM_000535.7(PMS2):c.611A>G (p.Asn204Ser) rs777903002 0.00004
NM_000540.3(RYR1):c.11763C>A (p.Tyr3921Ter) rs377178986 0.00004
NM_000540.3(RYR1):c.13934G>A (p.Arg4645Gln) rs193922860 0.00004
NM_000540.3(RYR1):c.6671G>A (p.Arg2224His) rs537994744 0.00004
NM_000546.6(TP53):c.1096T>G (p.Ser366Ala) rs17881470 0.00004
NM_000546.6(TP53):c.1149C>T (p.Leu383=) rs373710656 0.00004
NM_000546.6(TP53):c.28G>A (p.Val10Ile) rs535274413 0.00004
NM_000546.6(TP53):c.91G>A (p.Val31Ile) rs201753350 0.00004
NM_000548.5(TSC2):c.292C>T (p.Arg98Trp) rs372321790 0.00004
NM_000551.4(VHL):c.556G>A (p.Glu186Lys) rs367545984 0.00004
NM_000553.6(WRN):c.3437C>T (p.Ser1146Leu) rs779264260 0.00004
NM_000553.6(WRN):c.3881C>T (p.Ala1294Val) rs146861737 0.00004
NM_000784.4(CYP27A1):c.562C>T (p.Arg188Ter) rs188850202 0.00004
NM_001007792.1(NTRK1):c.163C>A (p.Arg55Ser) rs543320028 0.00004
NM_001012338.3(NTRK3):c.278C>T (p.Thr93Met) rs147992979 0.00004
NM_001031710.3(KLHL7):c.793+5G>C rs375718274 0.00004
NM_001044385.3(TMEM237):c.1024A>G (p.Asn342Asp) rs372686071 0.00004
NM_001048174.2(MUTYH):c.1463C>T (p.Pro488Leu) rs587778542 0.00004
NM_001048174.2(MUTYH):c.241C>T (p.Arg81Trp) rs765123255 0.00004
NM_001048174.2(MUTYH):c.305-1G>C rs372267274 0.00004
NM_001048174.2(MUTYH):c.421-2A>C rs786203161 0.00004
NM_001048174.2(MUTYH):c.523C>T (p.Arg175Cys) rs587780748 0.00004
NM_001048174.2(MUTYH):c.631G>A (p.Val211Ile) rs759295912 0.00004
NM_001098816.3(TENM4):c.3412G>A (p.Val1138Met) rs538881762 0.00004
NM_001122772.3(AGAP2):c.629T>A (p.Leu210Gln) rs996446379 0.00004
NM_001123385.2(BCOR):c.4292C>A (p.Ser1431Tyr) rs369432845 0.00004
NM_001127222.2(CACNA1A):c.6601C>T (p.Arg2201Trp) rs1032588483 0.00004
NM_001127701.1(SERPINA1):c.194T>C (p.Leu65Pro) rs28931569 0.00004
NM_001130438.3(SPTAN1):c.2224C>T (p.Arg742Cys) rs780658554 0.00004
NM_001134407.3(GRIN2A):c.547T>A (p.Phe183Ile) rs587780353 0.00004
NM_001159773.2(CANT1):c.676G>A (p.Val226Met) rs377546036 0.00004
NM_001165963.4(SCN1A):c.4556C>T (p.Pro1519Leu) rs372425457 0.00004
NM_001171.6(ABCC6):c.4069C>T (p.Arg1357Trp) rs63750428 0.00004
NM_001202.6(BMP4):c.485G>A (p.Arg162Gln) rs770493925 0.00004
NM_001253852.3(AP4B1):c.1557T>A (p.Tyr519Ter) rs529495094 0.00004
NM_001256071.3(RNF213):c.14429G>A (p.Arg4810Lys) rs112735431 0.00004
NM_001323289.2(CDKL5):c.2389G>A (p.Asp797Asn) rs140313320 0.00004
NM_001332.4(CTNND2):c.2137C>T (p.Arg713Cys) rs768575356 0.00004
NM_001364905.1(LRBA):c.5906G>C (p.Gly1969Ala) rs745608560 0.00004
NM_001370259.2(MEN1):c.1594G>T (p.Gly532Cys) rs587780843 0.00004
NM_001371904.1(APOA5):c.823C>T (p.Gln275Ter) rs149808404 0.00004
NM_001371904.1(APOA5):c.865C>T (p.Arg289Cys) rs755003082 0.00004
NM_001374828.1(ARID1B):c.5851G>A (p.Glu1951Lys) rs1451259945 0.00004
NM_001377.3(DYNC2H1):c.7442G>A (p.Arg2481Gln) rs781326398 0.00004
NM_001382430.1(AKT1):c.1390G>A (p.Glu464Lys) rs745803788 0.00004
NM_001918.5(DBT):c.1018-550A>G rs796052135 0.00004
NM_002016.2(FLG):c.10969C>T (p.Arg3657Ter) rs749083759 0.00004
NM_002016.2(FLG):c.7031C>G (p.Ser2344Ter) rs372754256 0.00004
NM_002485.5(NBN):c.803C>T (p.Thr268Met) rs535602436 0.00004
NM_002529.4(NTRK1):c.355C>T (p.Arg119Cys) rs757031354 0.00004
NM_002582.4(PARN):c.692A>G (p.Glu231Gly) rs757910862 0.00004
NM_002691.4(POLD1):c.1383+8C>T rs374719944 0.00004
NM_002878.4(RAD51D):c.694C>T (p.Arg232Ter) rs587780104 0.00004
NM_002878.4(RAD51D):c.793G>A (p.Gly265Arg) rs140285068 0.00004
NM_002878.4(RAD51D):c.796C>T (p.Arg266Cys) rs587781813 0.00004
NM_002878.4(RAD51D):c.839C>G (p.Thr280Ser) rs548111162 0.00004
NM_002905.5(RDH5):c.469C>T (p.Arg157Trp) rs104894374 0.00004
NM_002907.4(RECQL):c.1781C>T (p.Thr594Met) rs372947261 0.00004
NM_002907.4(RECQL):c.426del (p.Met144fs) rs753723230 0.00004
NM_002907.4(RECQL):c.796C>T (p.Gln266Ter) rs572725483 0.00004
NM_003000.3(SDHB):c.307A>G (p.Met103Val) rs140178341 0.00004
NM_003244.4(TGIF1):c.451A>G (p.Thr151Ala) rs121909068 0.00004
NM_003384.3(VRK1):c.452G>A (p.Arg151Gln) rs536881543 0.00004
NM_003482.4(KMT2D):c.13259G>A (p.Arg4420Gln) rs375999143 0.00004
NM_003620.4(PPM1D):c.1654C>T (p.Arg552Ter) rs779070661 0.00004
NM_004092.4(ECHS1):c.5C>T (p.Ala2Val) rs587776498 0.00004
NM_004211.5(SLC6A5):c.2114A>G (p.Tyr705Cys) rs143918578 0.00004
NM_004304.5(ALK):c.3363T>A (p.Gly1121=) rs201767904 0.00004
NM_004360.5(CDH1):c.2387G>A (p.Arg796Gln) rs587782549 0.00004
NM_004360.5(CDH1):c.2494G>A (p.Val832Met) rs35572355 0.00004
NM_004360.5(CDH1):c.375C>A (p.Pro125=) rs773044699 0.00004
NM_004380.3(CREBBP):c.4837G>A (p.Val1613Met) rs766085073 0.00004
NM_004629.2(FANCG):c.992C>G (p.Pro331Arg) rs765722724 0.00004
NM_004655.4(AXIN2):c.2083G>T (p.Ala695Ser) rs140510381 0.00004
NM_004656.4(BAP1):c.206C>T (p.Thr69Met) rs572063023 0.00004
NM_005228.5(EGFR):c.2710G>A (p.Val904Ile) rs538497054 0.00004
NM_005228.5(EGFR):c.731G>A (p.Arg244Gln) rs200664836 0.00004
NM_005228.5(EGFR):c.739G>A (p.Asp247Asn) rs780001754 0.00004
NM_005263.5(GFI1):c.1208A>G (p.Lys403Arg) rs28936382 0.00004
NM_005429.5(VEGFC):c.172G>A (p.Glu58Lys) rs200219952 0.00004
NM_005431.2(XRCC2):c.581C>T (p.Thr194Met) rs775565256 0.00004
NM_005591.4(MRE11):c.1516G>T (p.Glu506Ter) rs587781384 0.00004
NM_005633.4(SOS1):c.1490G>A (p.Arg497Gln) rs371314838 0.00004
NM_005994.4(TBX2):c.59G>A (p.Arg20Gln) rs1364709483 0.00004
NM_006186.4(NR4A2):c.308A>G (p.His103Arg) rs199674295 0.00004
NM_006231.4(POLE):c.3939G>A (p.Thr1313=) rs150282789 0.00004
NM_006231.4(POLE):c.4150-6C>T rs756837862 0.00004
NM_006231.4(POLE):c.4307G>A (p.Arg1436Gln) rs754518522 0.00004
NM_006231.4(POLE):c.4343A>G (p.Asn1448Ser) rs150545516 0.00004
NM_006231.4(POLE):c.6445C>T (p.Arg2149Cys) rs771490182 0.00004
NM_006269.2(RP1):c.1625C>G (p.Ser542Ter) rs779334655 0.00004
NM_006343.3(MERTK):c.2189+1G>T rs371956016 0.00004
NM_007144.3(PCGF2):c.265+8C>T rs767116828 0.00004
NM_007194.4(CHEK2):c.1423T>A (p.Phe475Ile) rs370968992 0.00004
NM_007194.4(CHEK2):c.400G>C (p.Asp134His) rs372874441 0.00004
NM_007194.4(CHEK2):c.593-55G>A rs17879915 0.00004
NM_007194.4(CHEK2):c.910A>G (p.Met304Val) rs769436449 0.00004
NM_007194.4(CHEK2):c.962A>C (p.Glu321Ala) rs374395284 0.00004
NM_007294.4(BRCA1):c.1511G>A (p.Arg504His) rs56272539 0.00004
NM_007294.4(BRCA1):c.181T>G (p.Cys61Gly) rs28897672 0.00004
NM_007294.4(BRCA1):c.2286A>T (p.Arg762Ser) rs273898682 0.00004
NM_007294.4(BRCA1):c.3143G>A (p.Gly1048Asp) rs80356899 0.00004
NM_007294.4(BRCA1):c.4261C>T (p.His1421Tyr) rs80357013 0.00004
NM_007294.4(BRCA1):c.4729T>C (p.Ser1577Pro) rs80356909 0.00004
NM_007294.4(BRCA1):c.5252G>A (p.Arg1751Gln) rs80357442 0.00004
NM_007294.4(BRCA1):c.81-11del rs273902788 0.00004
NM_014043.4(CHMP2B):c.248C>T (p.Thr83Ile) rs374277596 0.00004
NM_014324.6(AMACR):c.857del (p.Ile286fs) rs772921347 0.00004
NM_014588.6(VSX1):c.452A>G (p.Asn151Ser) rs201716527 0.00004
NM_014845.6(FIG4):c.262C>T (p.Arg88Ter) rs753207473 0.00004
NM_016204.4(GDF2):c.801G>T (p.Glu267Asp) rs782573337 0.00004
NM_016729.3(FOLR1):c.373C>T (p.Arg125Cys) rs752503322 0.00004
NM_017547.4(FOXRED1):c.1190C>G (p.Ala397Gly) rs201727988 0.00004
NM_017739.4(POMGNT1):c.208G>A (p.Glu70Lys) rs201361648 0.00004
NM_018662.3(DISC1):c.109C>T (p.Arg37Trp) rs202102981 0.00004
NM_019594.4(LRRC8A):c.1586C>T (p.Ala529Val) rs150164316 0.00004
NM_020320.5(RARS2):c.1257C>A (p.Asn419Lys) rs751904499 0.00004
NM_020320.5(RARS2):c.422A>G (p.His141Arg) rs377591456 0.00004
NM_020632.3(ATP6V0A4):c.1249G>A (p.Val417Met) rs530406140 0.00004
NM_020937.4(FANCM):c.3938G>C (p.Ser1313Thr) rs771311008 0.00004
NM_020975.6(RET):c.1118C>T (p.Ala373Val) rs546866208 0.00004
NM_020975.6(RET):c.1423C>T (p.Arg475Trp) rs746512075 0.00004
NM_020975.6(RET):c.1438G>A (p.Glu480Lys) rs537874538 0.00004
NM_020975.6(RET):c.2371T>A (p.Tyr791Asn) rs377767417 0.00004
NM_020975.6(RET):c.2931C>G (p.Ser977Arg) rs375414982 0.00004
NM_020989.4(CRYGC):c.502C>T (p.Arg168Trp) rs28931604 0.00004
NM_022788.5(P2RY12):c.767G>A (p.Arg256Gln) rs121917885 0.00004
NM_022914.2(ACD):c.137delG (p.Arg46Leufs) rs753666055 0.00004
NM_024675.4(PALB2):c.100C>T (p.Arg34Cys) rs373483056 0.00004
NM_024675.4(PALB2):c.13C>T (p.Pro5Ser) rs377085677 0.00004
NM_024675.4(PALB2):c.1861C>A (p.Pro621Thr) rs756116550 0.00004
NM_024675.4(PALB2):c.194C>T (p.Pro65Leu) rs62625272 0.00004
NM_024675.4(PALB2):c.2608G>A (p.Val870Ile) rs376641234 0.00004
NM_032043.3(BRIP1):c.2563C>T (p.Arg855Cys) rs146031731 0.00004
NM_032043.3(BRIP1):c.2593C>T (p.Arg865Trp) rs578022079 0.00004
NM_032043.3(BRIP1):c.3523A>G (p.Thr1175Ala) rs372799558 0.00004
NM_032043.3(BRIP1):c.415T>G (p.Ser139Ala) rs202072866 0.00004
NM_138694.4(PKHD1):c.3467C>T (p.Ser1156Leu) rs367707903 0.00004
NM_144773.4(PROKR2):c.308C>T (p.Ala103Val) rs775634673 0.00004
NM_144773.4(PROKR2):c.337T>C (p.Tyr113His) rs202203360 0.00004
NM_145292.4(GALNTL5):c.764del (p.Leu255fs) rs745743096 0.00004
NM_152443.3(RDH12):c.295C>A (p.Leu99Ile) rs28940315 0.00004
NM_153682.3(PIGP):c.2T>C (p.Met1Thr) rs768633670 0.00004
NM_153704.6(TMEM67):c.2848G>A (p.Val950Met) rs771551765 0.00004
NM_174936.4(PCSK9):c.1228G>A (p.Glu410Lys) rs746085210 0.00004
NM_174936.4(PCSK9):c.1399C>G (p.Pro467Ala) rs772677312 0.00004
NM_181336.4(LEMD2):c.335C>T (p.Ala112Val) rs149584596 0.00004
NM_198859.4(PRICKLE2):c.1813G>T (p.Val605Phe) rs387906989 0.00004
NC_000001.11:g.91022191G>T rs1250305120 0.00003
NM_000022.4(ADA):c.715G>A (p.Gly239Ser) rs777820729 0.00003
NM_000038.6(APC):c.1966C>G (p.Leu656Val) rs577466163 0.00003
NM_000038.6(APC):c.3205A>G (p.Arg1069Gly) rs375408871 0.00003
NM_000038.6(APC):c.3529A>G (p.Ile1177Val) rs369834416 0.00003
NM_000038.6(APC):c.5912C>G (p.Ser1971Cys) rs754691867 0.00003
NM_000038.6(APC):c.647G>A (p.Arg216Gln) rs76685252 0.00003
NM_000038.6(APC):c.757G>A (p.Gly253Ser) rs772806807 0.00003
NM_000038.6(APC):c.8383G>A (p.Ala2795Thr) rs369264968 0.00003
NM_000038.6(APC):c.848G>A (p.Arg283Gln) rs149154604 0.00003
NM_000044.6(AR):c.1208C>T (p.Ala403Val) rs772490323 0.00003
NM_000051.4(ATM):c.2735A>G (p.Gln912Arg) rs730881353 0.00003
NM_000051.4(ATM):c.3693_3695del (p.Leu1231_Ser1232delinsPhe) rs786203389 0.00003
NM_000051.4(ATM):c.395C>T (p.Ser132Phe) rs750969764 0.00003
NM_000051.4(ATM):c.4910-248T>C rs550591525 0.00003
NM_000051.4(ATM):c.5189G>A (p.Arg1730Gln) rs373789346 0.00003
NM_000051.4(ATM):c.5917A>G (p.Arg1973Gly) rs786202089 0.00003
NM_000051.4(ATM):c.6554T>C (p.Ile2185Thr) rs779611511 0.00003
NM_000051.4(ATM):c.8246A>T (p.Lys2749Ile) rs779145081 0.00003
NM_000051.4(ATM):c.8264_8268del (p.Tyr2755fs) rs730881294 0.00003
NM_000057.4(BLM):c.2106T>A (p.Pro702=) rs529421306 0.00003
NM_000057.4(BLM):c.2210_2211insA (p.Thr738fs) rs758886088 0.00003
NM_000057.4(BLM):c.2212_2213insTTC (p.Thr738delinsIlePro) rs780538610 0.00003
NM_000057.4(BLM):c.2594A>G (p.Tyr865Cys) rs777842626 0.00003
NM_000059.4(BRCA2):c.*15G>A rs376501142 0.00003
NM_000059.4(BRCA2):c.1012G>A (p.Ala338Thr) rs80358396 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.1793C>T (p.Thr598Ile) rs80358462 0.00003
NM_000059.4(BRCA2):c.3581G>A (p.Gly1194Asp) rs28897721 0.00003
NM_000059.4(BRCA2):c.3682A>G (p.Asn1228Asp) rs28897722 0.00003
NM_000059.4(BRCA2):c.3910A>G (p.Thr1304Ala) rs28897723 0.00003
NM_000059.4(BRCA2):c.4670C>G (p.Thr1557Ser) rs80358698 0.00003
NM_000059.4(BRCA2):c.5164A>T (p.Ser1722Cys) rs80358741 0.00003
NM_000059.4(BRCA2):c.5228G>A (p.Ser1743Asn) rs587782714 0.00003
NM_000059.4(BRCA2):c.5634C>G (p.Asn1878Lys) rs80358784 0.00003
NM_000059.4(BRCA2):c.6935A>T (p.Asp2312Val) rs80358916 0.00003
NM_000059.4(BRCA2):c.7565C>T (p.Ser2522Phe) rs80358985 0.00003
NM_000059.4(BRCA2):c.9078G>C (p.Gln3026His) rs1359207910 0.00003
NM_000059.4(BRCA2):c.9086C>T (p.Ala3029Val) rs80359162 0.00003
NM_000059.4(BRCA2):c.9271G>A (p.Val3091Ile) rs80359194 0.00003
NM_000059.4(BRCA2):c.9458G>C (p.Gly3153Ala) rs80359220 0.00003
NM_000059.4(BRCA2):c.9820T>G (p.Leu3274Val) rs80359244 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_000090.4(COL3A1):c.724C>T (p.Arg242Ter) rs1333421028 0.00003
NM_000103.4(CYP19A1):c.242A>G (p.Tyr81Cys) rs199845027 0.00003
NM_000128.4(F11):c.1489C>T (p.Arg497Ter) rs375422404 0.00003
NM_000132.4(F8):c.4099A>T (p.Thr1367Ser) rs781812149 0.00003
NM_000132.4(F8):c.5144G>A (p.Arg1715Gln) rs781876217 0.00003
NM_000132.4(F8):c.5806C>T (p.Arg1936Cys) rs781792644 0.00003
NM_000132.4(F8):c.733C>T (p.Arg245Trp) rs781943956 0.00003
NM_000136.3(FANCC):c.127G>A (p.Glu43Lys) rs374836770 0.00003
NM_000136.3(FANCC):c.1363G>T (p.Ala455Ser) rs730881724 0.00003
NM_000151.4(G6PC1):c.508C>T (p.Arg170Ter) rs373345919 0.00003
NM_000159.4(GCDH):c.1144G>A (p.Ala382Thr) rs567564095 0.00003
NM_000166.6(GJB1):c.689G>T (p.Arg230Leu) rs780335726 0.00003
NM_000179.3(MSH6):c.1696G>A (p.Gly566Arg) rs63749973 0.00003
NM_000179.3(MSH6):c.2161A>G (p.Arg721Gly) rs537604099 0.00003
NM_000179.3(MSH6):c.3100C>T (p.Arg1034Trp) rs587779930 0.00003
NM_000179.3(MSH6):c.359T>C (p.Ile120Thr) rs775971872 0.00003
NM_000179.3(MSH6):c.532C>T (p.Arg178Cys) rs730881813 0.00003
NM_000179.3(MSH6):c.627+9C>T rs373155872 0.00003
NM_000238.4(KCNH2):c.2843G>A (p.Arg948His) rs199473011 0.00003
NM_000238.4(KCNH2):c.3224C>T (p.Pro1075Leu) rs199473028 0.00003
NM_000243.3(MEFV):c.2110G>A (p.Val704Ile) rs104895096 0.00003
NM_000243.3(MEFV):c.2164G>A (p.Val722Met) rs104895201 0.00003
NM_000245.4(MET):c.3356G>C (p.Gly1119Ala) rs201037977 0.00003
NM_000245.4(MET):c.4100C>G (p.Ser1367Cys) rs747239403 0.00003
NM_000249.4(MLH1):c.1514G>A (p.Ser505Asn) rs771044689 0.00003
NM_000249.4(MLH1):c.191A>G (p.Asn64Ser) rs63750952 0.00003
NM_000249.4(MLH1):c.644A>G (p.Asn215Ser) rs267607775 0.00003
NM_000249.4(MLH1):c.884+15A>G rs372817491 0.00003
NM_000249.4(MLH1):c.94A>G (p.Ile32Val) rs2020872 0.00003
NM_000251.3(MSH2):c.14C>A (p.Pro5Gln) rs56170584 0.00003
NM_000251.3(MSH2):c.157G>T (p.Ala53Ser) rs755931648 0.00003
NM_000251.3(MSH2):c.1724A>G (p.Asp575Gly) rs370330868 0.00003
NM_000251.3(MSH2):c.1847C>G (p.Pro616Arg) rs587779965 0.00003
NM_000256.3(MYBPC3):c.2198G>A (p.Arg733His) rs534345197 0.00003
NM_000256.3(MYBPC3):c.223G>A (p.Asp75Asn) rs375471260 0.00003
NM_000256.3(MYBPC3):c.305C>T (p.Pro102Leu) rs730880610 0.00003
NM_000256.3(MYBPC3):c.3343G>A (p.Val1115Ile) rs531189495 0.00003
NM_000256.3(MYBPC3):c.994G>A (p.Glu332Lys) rs397516086 0.00003
NM_000260.4(MYO7A):c.3659C>T (p.Pro1220Leu) rs727504710 0.00003
NM_000266.4(NDP):c.58G>A (p.Gly20Arg) rs200594881 0.00003
NM_000277.3(PAH):c.168+5G>C rs62507288 0.00003
NM_000314.8(PTEN):c.-799G>C rs587779992 0.00003
NM_000335.5(SCN5A):c.1577G>A (p.Arg526His) rs45627438 0.00003
NM_000335.5(SCN5A):c.1663G>A (p.Glu555Lys) rs199473123 0.00003
NM_000335.5(SCN5A):c.3206C>T (p.Thr1069Met) rs199473187 0.00003
NM_000335.5(SCN5A):c.3401G>T (p.Ser1134Ile) rs557957405 0.00003
NM_000335.5(SCN5A):c.4279G>T (p.Ala1427Ser) rs200034939 0.00003
NM_000350.3(ABCA4):c.4328G>A (p.Arg1443His) rs61750142 0.00003
NM_000350.3(ABCA4):c.5381C>A (p.Ala1794Asp) rs61751406 0.00003
NM_000352.6(ABCC8):c.4051G>A (p.Val1351Met) rs149331388 0.00003
NM_000368.5(TSC1):c.-144G>A rs796053468 0.00003
NM_000372.5(TYR):c.1064C>T (p.Ala355Val) rs151206295 0.00003
NM_000402.4(G6PD):c.1093G>A (p.Ala365Thr) rs5030869 0.00003
NM_000402.4(G6PD):c.1114C>T (p.Leu372Phe) rs137852342 0.00003
NM_000402.4(G6PD):c.682C>T (p.Arg228Cys) rs137852330 0.00003
NM_000417.3(IL2RA):c.100G>A (p.Ala34Thr) rs773957702 0.00003
NM_000426.4(LAMA2):c.3085C>T (p.Arg1029Ter) rs145420388 0.00003
NM_000441.2(SLC26A4):c.929C>T (p.Ala310Val) rs540008835 0.00003
NM_000451.4(SHOX):c.336G>C (p.Gln112His) rs779090116 0.00003
NM_000451.4(SHOX):c.543A>C (p.Lys181Asn) rs202144835 0.00003
NM_000455.5(STK11):c.374+9T>A rs762297795 0.00003
NM_000455.5(STK11):c.911G>A (p.Arg304Gln) rs376280361 0.00003
NM_000463.3(UGT1A1):c.835A>T (p.Asn279Tyr) rs397978903 0.00003
NM_000465.4(BARD1):c.1028C>T (p.Thr343Ile) rs201032007 0.00003
NM_000465.4(BARD1):c.1247T>G (p.Leu416Arg) rs878853996 0.00003
NM_000465.4(BARD1):c.1690C>T (p.Gln564Ter) rs587780021 0.00003
NM_000465.4(BARD1):c.1904-485A>G rs571154441 0.00003
NM_000465.4(BARD1):c.1904-629C>T rs1266026461 0.00003
NM_000465.4(BARD1):c.1915T>C (p.Cys639Arg) rs587781376 0.00003
NM_000465.4(BARD1):c.77T>G (p.Met26Arg) rs759957629 0.00003
NM_000492.4(CFTR):c.1040G>A (p.Arg347His) rs77932196 0.00003
NM_000492.4(CFTR):c.1117G>A (p.Asp373Asn) rs556880586 0.00003
NM_000492.4(CFTR):c.1397C>G (p.Ser466Ter) rs121908805 0.00003
NM_000492.4(CFTR):c.14C>T (p.Pro5Leu) rs193922501 0.00003
NM_000492.4(CFTR):c.1680-886A>G rs397508266 0.00003
NM_000492.4(CFTR):c.1841A>G (p.Asp614Gly) rs201124247 0.00003
NM_000492.4(CFTR):c.2739T>A (p.Tyr913Ter) rs149790377 0.00003
NM_000492.4(CFTR):c.2758G>A (p.Val920Met) rs373885282 0.00003
NM_000492.4(CFTR):c.3208C>T (p.Arg1070Trp) rs202179988 0.00003
NM_000492.4(CFTR):c.3276C>A (p.Tyr1092Ter) rs121908761 0.00003
NM_000492.4(CFTR):c.3468G>A (p.Leu1156=) rs139729994 0.00003
NM_000493.4(COL10A1):c.772C>T (p.Arg258Ter) rs765628474 0.00003
NM_000527.5(LDLR):c.1747C>T (p.His583Tyr) rs730882109 0.00003
NM_000527.5(LDLR):c.2375T>C (p.Ile792Thr) rs764493597 0.00003
NM_000527.5(LDLR):c.292G>A (p.Gly98Ser) rs750474121 0.00003
NM_000527.5(LDLR):c.862G>A (p.Glu288Lys) rs368657165 0.00003
NM_000535.7(PMS2):c.917T>C (p.Val306Ala) rs786201878 0.00003
NM_000540.3(RYR1):c.13505A>G (p.Glu4502Gly) rs139647387 0.00003
NM_000545.8(HNF1A):c.1522G>A (p.Glu508Lys) rs483353044 0.00003
NM_000546.6(TP53):c.467G>A (p.Arg156His) rs371524413 0.00003
NM_000548.5(TSC2):c.538C>G (p.Leu180Val) rs45485591 0.00003
NM_000639.3(FASLG):c.51C>A (p.Ser17Arg) rs1051257078 0.00003
NM_000719.7(CACNA1C):c.4289A>C (p.Lys1430Thr) rs759934820 0.00003
NM_000719.7(CACNA1C):c.5731G>C (p.Gly1911Arg) rs374528680 0.00003
NM_000784.4(CYP27A1):c.1421G>A (p.Arg474Gln) rs121908097 0.00003
NM_001003800.2(BICD2):c.1079C>T (p.Ala360Val) rs587777884 0.00003
NM_001009944.3(PKD1):c.3496G>A (p.Gly1166Ser) rs573566419 0.00003
NM_001012720.2(RGR):c.700G>A (p.Ala234Thr) rs377043137 0.00003
NM_001035.3(RYR2):c.7493C>T (p.Ala2498Val) rs374191985 0.00003
NM_001041.4(SI):c.4427G>C (p.Gly1476Ala) rs758043919 0.00003
NM_001042492.3(NF1):c.169G>A (p.Gly57Ser) rs779727341 0.00003
NM_001048174.2(MUTYH):c.14G>A (p.Arg5Gln) rs587780081 0.00003
NM_001048174.2(MUTYH):c.395A>G (p.Gln132Arg) rs1212933615 0.00003
NM_001069.3(TUBB2A):c.743C>T (p.Ala248Val) rs2808001 0.00003
NM_001082971.2(DDC):c.1040G>A (p.Arg347Gln) rs201951824 0.00003
NM_001083614.2(EARS2):c.1098G>C (p.Glu366Asp) rs746186859 0.00003
NM_001083614.2(EARS2):c.1243G>A (p.Asp415Asn) rs763888954 0.00003
NM_001113525.2(ZNF276):c.*354G>A rs370357192 0.00003
NM_001128425.2(MUTYH):c.36+179G>T rs1418696430 0.00003
NM_001134363.3(RBM20):c.1603G>A (p.Val535Ile) rs183007628 0.00003
NM_001134407.3(GRIN2A):c.1510C>T (p.Arg504Trp) rs1360906241 0.00003
NM_001135146.2(SLC39A8):c.1283C>T (p.Thr428Ile) rs142863074 0.00003
NM_001135651.3(EIF2AK2):c.891T>C (p.Arg297=) rs779362072 0.00003
NM_001139.3(ALOX12B):c.1156C>T (p.Arg386Cys) rs750066836 0.00003
NM_001142800.2(EYS):c.4120C>T (p.Arg1374Ter) rs928803207 0.00003
NM_001142800.2(EYS):c.8236G>T (p.Asp2746Tyr) rs1349879153 0.00003
NM_001142800.2(EYS):c.8411dup (p.Thr2805fs) rs763028732 0.00003
NM_001142800.2(EYS):c.9019G>T (p.Asp3007Tyr) rs888739369 0.00003
NM_001142800.2(EYS):c.9317_9336del (p.Thr3106fs) rs1326370032 0.00003
NM_001145809.2(MYH14):c.4903G>A (p.Glu1635Lys) rs140157424 0.00003
NM_001164277.2(SLC37A4):c.446G>A (p.Gly149Glu) rs193302892 0.00003
NM_001165963.4(SCN1A):c.4723C>T (p.Arg1575Cys) rs121918807 0.00003
NM_001165963.4(SCN1A):c.4834G>A (p.Val1612Ile) rs121918808 0.00003
NM_001199107.2(TBC1D24):c.1025C>T (p.Ser342Leu) rs1159971280 0.00003
NM_001258392.3(CLPB):c.934C>T (p.Arg312Ter) rs185461628 0.00003
NM_001267550.2(TTN):c.27607G>T (p.Glu9203Ter) rs769097909 0.00003
NM_001278716.2(FBXL4):c.1288C>T (p.Arg430Ter) rs758395213 0.00003
NM_001289808.2(CRYAB):c.3G>A (p.Met1Ile) rs397516686 0.00003
NM_001308093.3(GATA4):c.1276G>A (p.Asp426Asn) rs56208331 0.00003
NM_001368894.2(PAX6):c.1166C>A (p.Pro389Gln) rs200015827 0.00003
NM_001370259.2(MEN1):c.1165C>T (p.Arg389Trp) rs566593066 0.00003
NM_001370658.1(BTD):c.908A>G (p.His303Arg) rs397507176 0.00003
NM_001375524.1(TRRAP):c.511C>T (p.Arg171Cys) rs200157211 0.00003
NM_001375524.1(TRRAP):c.6424C>T (p.Arg2142Trp) rs567468806 0.00003
NM_001378454.1(ALMS1):c.2326C>T (p.Gln776Ter) rs758195453 0.00003
NM_001845.6(COL4A1):c.1055C>T (p.Pro352Leu) rs200786329 0.00003
NM_001958.5(EEF1A2):c.716C>T (p.Thr239Met) rs993963334 0.00003
NM_002016.2(FLG):c.7249C>T (p.Gln2417Ter) rs528722713 0.00003
NM_002016.2(FLG):c.7661C>G (p.Ser2554Ter) rs121909626 0.00003
NM_002016.2(FLG):c.8117C>G (p.Ser2706Ter) rs542799026 0.00003
NM_002485.5(NBN):c.2060A>C (p.Lys687Thr) rs186371605 0.00003
NM_002485.5(NBN):c.2215C>G (p.Leu739Val) rs370058152 0.00003
NM_002485.5(NBN):c.80G>T (p.Gly27Val) rs755171159 0.00003
NM_002529.4(NTRK1):c.1083G>T (p.Leu361=) rs750656916 0.00003
NM_002529.4(NTRK1):c.1463G>A (p.Gly488Asp) rs760222071 0.00003
NM_002529.4(NTRK1):c.2105G>A (p.Arg702His) rs200022271 0.00003
NM_002691.4(POLD1):c.3016G>A (p.Ala1006Thr) rs376197467 0.00003
NM_002834.5(PTPN11):c.794G>A (p.Arg265Gln) rs376607329 0.00003
NM_002878.4(RAD51D):c.481-8C>T rs762247126 0.00003
NM_002878.4(RAD51D):c.556C>T (p.Arg186Ter) rs387906843 0.00003
NM_002878.4(RAD51D):c.83-37C>A rs763129236 0.00003
NM_003000.3(SDHB):c.650G>A (p.Arg217His) rs747518441 0.00003
NM_003042.4(SLC6A1):c.31G>A (p.Gly11Arg) rs1264567694 0.00003
NM_003060.4(SLC22A5):c.453G>A (p.Val151=) rs386134194 0.00003
NM_003322.6(TULP1):c.1082G>A (p.Arg361Gln) rs1313593155 0.00003
NM_003322.6(TULP1):c.1560C>A (p.Tyr520Ter) rs773968778 0.00003
NM_003690.5(PRKRA):c.638G>T (p.Cys213Phe) rs752452731 0.00003
NM_003859.3(DPM1):c.1A>C (p.Met1Leu) rs139624629 0.00003
NM_004004.6(GJB2):c.550C>T (p.Arg184Trp) rs998045226 0.00003
NM_004006.3(DMD):c.10247G>A (p.Trp3416Ter) rs201217593 0.00003
NM_004360.5(CDH1):c.1138-44G>A rs374676556 0.00003
NM_004360.5(CDH1):c.1417G>A (p.Val473Ile) rs36087757 0.00003
NM_004360.5(CDH1):c.2074G>A (p.Ala692Thr) rs376854556 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_004493.3(HSD17B10):c.56C>G (p.Ala19Gly) rs371890650 0.00003
NM_004656.4(BAP1):c.1217A>T (p.Glu406Val) rs535695655 0.00003
NM_004700.4(KCNQ4):c.2014G>A (p.Val672Met) rs754076761 0.00003
NM_004958.4(MTOR):c.3026G>A (p.Arg1009Gln) rs778855567 0.00003
NM_005006.7(NDUFS1):c.1235C>T (p.Pro412Leu) rs751150787 0.00003
NM_005186.4(CAPN1):c.618_619del (p.Gly208fs) rs778722037 0.00003
NM_005228.5(EGFR):c.2033C>T (p.Thr678Met) rs138193597 0.00003
NM_005228.5(EGFR):c.345T>A (p.Asn115Lys) rs773596817 0.00003
NM_005228.5(EGFR):c.559+46G>A rs752130552 0.00003
NM_005413.4(SIX3):c.499G>T (p.Ala167Ser) rs387906868 0.00003
NM_005431.2(XRCC2):c.608C>T (p.Ser203Leu) rs143856570 0.00003
NM_005448.2(BMP15):c.413G>A (p.Arg138His) rs371418883 0.00003
NM_005448.2(BMP15):c.617G>A (p.Arg206His) rs782516193 0.00003
NM_006017.3(PROM1):c.652C>T (p.Gln218Ter) rs374017889 0.00003
NM_006231.4(POLE):c.1021-11C>T rs781431436 0.00003
NM_006231.4(POLE):c.3090C>T (p.Phe1030=) rs766306895 0.00003
NM_006231.4(POLE):c.3228C>T (p.Cys1076=) rs767929667 0.00003
NM_006363.6(SEC23B):c.367C>T (p.Arg123Ter) rs775380378 0.00003
NM_007078.3(LDB3):c.1672A>G (p.Ile558Val) rs372331627 0.00003
NM_007103.4(NDUFV1):c.766C>T (p.Arg256Cys) rs755312472 0.00003
NM_007194.4(CHEK2):c.1513T>C (p.Ser505Pro) rs587781960 0.00003
NM_007194.4(CHEK2):c.1567C>T (p.Arg523Cys) rs149501505 0.00003
NM_007194.4(CHEK2):c.917G>C (p.Gly306Ala) rs587780192 0.00003
NM_007194.4(CHEK2):c.953G>A (p.Arg318His) rs143611747 0.00003
NM_007294.4(BRCA1):c.179A>G (p.Gln60Arg) rs373655067 0.00003
NM_007294.4(BRCA1):c.2299A>G (p.Ser767Gly) rs80357194 0.00003
NM_007294.4(BRCA1):c.398G>A (p.Arg133His) rs80357357 0.00003
NM_007294.4(BRCA1):c.4262A>G (p.His1421Arg) rs80357079 0.00003
NM_007294.4(BRCA1):c.5333-8C>T rs80358084 0.00003
NM_007294.4(BRCA1):c.811G>A (p.Val271Met) rs80357244 0.00003
NM_012431.3(SEMA3E):c.2108C>T (p.Ser703Leu) rs121918341 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_014053.4(FLVCR1):c.1546C>T (p.Arg516Ter) rs538343832 0.00003
NM_014215.3(INSRR):c.3319G>T (p.Ala1107Ser) rs779943666 0.00003
NM_014290.3(TDRD7):c.1846C>T (p.Leu616Phe) rs766559772 0.00003
NM_016194.4(GNB5):c.368C>T (p.Ser123Leu) rs761399728 0.00003
NM_016356.5(DCDC2):c.829A>T (p.Lys277Ter) rs775868003 0.00003
NM_017882.3(CLN6):c.338C>T (p.Thr113Met) rs758830997 0.00003
NM_018127.7(ELAC2):c.1177C>T (p.His393Tyr) rs1404085657 0.00003
NM_020247.5(COQ8A):c.895C>T (p.Arg299Trp) rs201908721 0.00003
NM_020634.3(GDF3):c.820C>T (p.Arg274Trp) rs387906946 0.00003
NM_020937.4(FANCM):c.1667A>G (p.Asp556Gly) rs148810507 0.00003
NM_020937.4(FANCM):c.4318-3T>G rs367696095 0.00003
NM_020975.6(RET):c.1013C>T (p.Thr338Ile) rs377767433 0.00003
NM_020975.6(RET):c.1867G>A (p.Glu623Lys) rs377767402 0.00003
NM_020975.6(RET):c.3149G>A (p.Arg1050Gln) rs200956659 0.00003
NM_020975.6(RET):c.539G>A (p.Arg180Gln) rs370736139 0.00003
NM_021728.4(OTX2):c.713A>T (p.His238Leu) rs144449264 0.00003
NM_021922.3(FANCE):c.1316G>T (p.Gly439Val) rs776298967 0.00003
NM_022055.2(KCNK12):c.*8525G>C rs758564047 0.00003
NM_024312.5(GNPTAB):c.117G>T (p.Glu39Asp) rs765682282 0.00003
NM_024417.5(FDXR):c.980G>A (p.Arg327His) rs752410856 0.00003
NM_024422.6(DSC2):c.1018A>G (p.Thr340Ala) rs368299411 0.00003
NM_024675.4(PALB2):c.110G>A (p.Arg37His) rs202194596 0.00003
NM_024675.4(PALB2):c.2897T>C (p.Ile966Thr) rs587780214 0.00003
NM_024675.4(PALB2):c.3296C>G (p.Thr1099Arg) rs142132127 0.00003
NM_025099.6(CTC1):c.19C>T (p.Gln7Ter) rs374877315 0.00003
NM_025099.6(CTC1):c.2453G>A (p.Arg818Gln) rs772328631 0.00003
NM_025114.4(CEP290):c.2722C>T (p.Arg908Ter) rs886042153 0.00003
NM_025132.4(WDR19):c.2129T>C (p.Leu710Ser) rs387906980 0.00003
NM_030662.4(MAP2K2):c.818A>G (p.Lys273Arg) rs539555837 0.00003
NM_031885.5(BBS2):c.401C>G (p.Pro134Arg) rs376306240 0.00003
NM_032043.3(BRIP1):c.2100A>G (p.Leu700=) rs766047812 0.00003
NM_032043.3(BRIP1):c.2830C>G (p.Gln944Glu) rs140233356 0.00003
NM_032043.3(BRIP1):c.2854A>G (p.Ile952Val) rs200239986 0.00003
NM_032043.3(BRIP1):c.702G>A (p.Lys234=) rs45512798 0.00003
NM_032043.3(BRIP1):c.728T>C (p.Ile243Thr) rs587781860 0.00003
NM_032043.3(BRIP1):c.887A>G (p.Glu296Gly) rs878855158 0.00003
NM_032119.4(ADGRV1):c.16377G>T (p.Gln5459His) rs371947306 0.00003
NM_032444.4(SLX4):c.1547C>T (p.Ala516Val) rs199683722 0.00003
NM_032977.4(CASP10):c.440T>C (p.Met147Thr) rs121909776 0.00003
NM_033343.4(LHX4):c.704G>A (p.Arg235Gln) rs765008063 0.00003
NM_058216.3(RAD51C):c.1102C>T (p.Arg368Trp) rs587780253 0.00003
NM_138959.3(VANGL1):c.518G>A (p.Arg173His) rs148341022 0.00003
NM_152328.5(ADSS1):c.919del (p.Ile307fs) rs559454746 0.00003
NM_170707.4(LMNA):c.892C>T (p.Arg298Cys) rs59885338 0.00003
NM_175914.5(HNF4A):c.1097C>G (p.Pro366Arg) rs193922469 0.00003
NM_178172.6(GPIHBP1):c.226C>T (p.Arg76Cys) rs756671297 0.00003
NM_182925.5(FLT4):c.2104G>T (p.Ala702Ser) rs746659265 0.00003
NM_182961.4(SYNE1):c.9679G>A (p.Glu3227Lys) rs1024177161 0.00003
NM_201253.3(CRB1):c.2234C>T (p.Thr745Met) rs28939720 0.00003
NM_201253.3(CRB1):c.2291G>A (p.Arg764His) rs375040930 0.00003
NM_201384.3(PLEC):c.13444G>A (p.Gly4482Ser) rs373807877 0.00003
NM_203447.4(DOCK8):c.3209A>G (p.Asn1070Ser) rs368569393 0.00003
NM_206933.4(USH2A):c.4957C>T (p.Arg1653Ter) rs754768875 0.00003
NM_206933.4(USH2A):c.7451+3G>A rs397518030 0.00003
NM_206933.4(USH2A):c.9842G>T (p.Cys3281Phe) rs727504654 0.00003
NM_000033.4(ABCD1):c.199A>G (p.Met67Val) rs1057114018 0.00002
NM_000038.6(APC):c.1589T>C (p.Val530Ala) rs202199891 0.00002
NM_000038.6(APC):c.1984C>A (p.Leu662Ile) rs756859993 0.00002
NM_000038.6(APC):c.3225T>C (p.Tyr1075=) rs768123840 0.00002
NM_000038.6(APC):c.3437G>A (p.Arg1146His) rs763486328 0.00002
NM_000038.6(APC):c.4310A>G (p.Lys1437Arg) rs745825088 0.00002
NM_000038.6(APC):c.4999A>G (p.Asn1667Asp) rs775241441 0.00002
NM_000038.6(APC):c.5225G>A (p.Arg1742His) rs199775075 0.00002
NM_000038.6(APC):c.5308A>G (p.Lys1770Glu) rs551183536 0.00002
NM_000038.6(APC):c.6499A>G (p.Ile2167Val) rs757567894 0.00002
NM_000038.6(APC):c.689G>A (p.Arg230His) rs587780545 0.00002
NM_000038.6(APC):c.7495G>C (p.Val2499Leu) rs33941929 0.00002
NM_000038.6(APC):c.7550A>G (p.Tyr2517Cys) rs587783036 0.00002
NM_000038.6(APC):c.8141G>A (p.Arg2714His) rs747362422 0.00002
NM_000044.6(AR):c.1651G>C (p.Asp551His) rs777461721 0.00002
NM_000045.4(ARG1):c.3G>A (p.Met1Ile) rs745624953 0.00002
NM_000045.4(ARG1):c.923G>A (p.Arg308Gln) rs377280518 0.00002
NM_000051.4(ATM):c.1237C>T (p.Leu413=) rs1565381686 0.00002
NM_000051.4(ATM):c.2115C>T (p.Tyr705=) rs876659149 0.00002
NM_000051.4(ATM):c.2159G>A (p.Arg720His) rs55830714 0.00002
NM_000051.4(ATM):c.2944C>T (p.Arg982Cys) rs587779830 0.00002
NM_000051.4(ATM):c.3978C>A (p.Asn1326Lys) rs778123057 0.00002
NM_000051.4(ATM):c.4437-9C>T rs766003804 0.00002
NM_000051.4(ATM):c.5612C>T (p.Thr1871Ile) rs538452060 0.00002
NM_000051.4(ATM):c.5753G>C (p.Arg1918Thr) rs148064985 0.00002
NM_000051.4(ATM):c.7875T>G (p.Asp2625Glu) rs1196903858 0.00002
NM_000051.4(ATM):c.7876G>C (p.Ala2626Pro) rs267606669 0.00002
NM_000051.4(ATM):c.8151+8T>C rs768069197 0.00002
NM_000051.4(ATM):c.8152-50T>C rs762648668 0.00002
NM_000051.4(ATM):c.8187A>C (p.Gln2729His) rs587781946 0.00002
NM_000051.4(ATM):c.9022C>T (p.Arg3008Cys) rs587782292 0.00002
NM_000057.4(BLM):c.3019+17T>C rs532036885 0.00002
NM_000057.4(BLM):c.4016T>C (p.Met1339Thr) rs761320085 0.00002
NM_000057.4(BLM):c.963G>A (p.Thr321=) rs779461745 0.00002
NM_000059.4(BRCA2):c.10202C>T (p.Thr3401Met) rs55853199 0.00002
NM_000059.4(BRCA2):c.172G>A (p.Glu58Lys) rs397507603 0.00002
NM_000059.4(BRCA2):c.1763A>G (p.Asn588Ser) rs373400041 0.00002
NM_000059.4(BRCA2):c.1820A>C (p.Lys607Thr) rs55962656 0.00002
NM_000059.4(BRCA2):c.229A>G (p.Thr77Ala) rs80358500 0.00002
NM_000059.4(BRCA2):c.3299A>T (p.Asn1100Ile) rs80358575 0.00002
NM_000059.4(BRCA2):c.353G>A (p.Arg118His) rs80358603 0.00002
NM_000059.4(BRCA2):c.3835A>G (p.Asn1279Asp) rs80358626 0.00002
NM_000059.4(BRCA2):c.5096A>G (p.Asp1699Gly) rs80358732 0.00002
NM_000059.4(BRCA2):c.5270A>G (p.Tyr1757Cys) rs587776466 0.00002
NM_000059.4(BRCA2):c.6029T>G (p.Val2010Gly) rs80358839 0.00002
NM_000059.4(BRCA2):c.6665A>G (p.Tyr2222Cys) rs397507875 0.00002
NM_000059.4(BRCA2):c.7507G>A (p.Val2503Ile) rs587782191 0.00002
NM_000059.4(BRCA2):c.8360G>A (p.Arg2787His) rs80359078 0.00002
NM_000059.4(BRCA2):c.9986A>G (p.Asn3329Ser) rs76635144 0.00002
NM_000075.4(CDK4):c.661G>A (p.Asp221Asn) rs587778187 0.00002
NM_000075.4(CDK4):c.763C>T (p.Arg255Cys) rs587778188 0.00002
NM_000077.5(CDKN2A):c.457+30C>T rs780868128 0.00002
NM_000094.4(COL7A1):c.4018C>T (p.Arg1340Ter) rs761927109 0.00002
NM_000104.4(CYP1B1):c.1198C>T (p.Pro400Ser) rs768047511 0.00002
NM_000108.5(DLD):c.1440A>G (p.Ile480Met) rs772512477 0.00002
NM_000111.3(SLC26A3):c.1696C>T (p.Arg566Ter) rs1018933248 0.00002
NM_000123.4(ERCC5):c.3428C>T (p.Ala1143Val) rs376411022 0.00002
NM_000127.3(EXT1):c.2072G>A (p.Arg691His) rs746678682 0.00002
NM_000132.4(F8):c.1030A>C (p.Lys344Gln) rs782395704 0.00002
NM_000132.4(F8):c.2149C>T (p.Arg717Trp) rs137852435 0.00002
NM_000132.4(F8):c.5381T>A (p.Phe1794Tyr) rs782123880 0.00002
NM_000132.4(F8):c.5999-11G>A rs782132907 0.00002
NM_000132.4(F8):c.6544C>T (p.Arg2182Cys) rs137852467 0.00002
NM_000132.4(F8):c.6652A>G (p.Met2218Val) rs782627131 0.00002
NM_000135.4(FANCA):c.1822A>G (p.Lys608Glu) rs938278864 0.00002
NM_000136.3(FANCC):c.1161C>T (p.Cys387=) rs548998258 0.00002
NM_000137.4(FAH):c.696C>T (p.Asn232=) rs533540262 0.00002
NM_000152.5(GAA):c.1927G>A (p.Gly643Arg) rs28937909 0.00002
NM_000154.2(GALK1):c.863C>T (p.Thr288Met) rs759284637 0.00002
NM_000155.4(GALT):c.997C>G (p.Arg333Gly) rs111033800 0.00002
NM_000159.4(GCDH):c.1298C>T (p.Ala433Val) rs933624223 0.00002
NM_000169.3(GLA):c.196G>C (p.Glu66Gln) rs104894833 0.00002
NM_000179.3(MSH6):c.1168del (p.Asp390fs) rs753796271 0.00002
NM_000179.3(MSH6):c.204G>A (p.Lys68=) rs864622565 0.00002
NM_000179.3(MSH6):c.3226C>T (p.Arg1076Cys) rs63750617 0.00002
NM_000179.3(MSH6):c.3851C>T (p.Thr1284Met) rs63750836 0.00002
NM_000179.3(MSH6):c.4002-28del rs1572749250 0.00002
NM_000180.4(GUCY2D):c.1672G>A (p.Asp558Asn) rs188568530 0.00002
NM_000206.3(IL2RG):c.292A>G (p.Lys98Glu) rs776710796 0.00002
NM_000208.4(INSR):c.2842+6T>A rs767138526 0.00002
NM_000218.3(KCNQ1):c.1726G>A (p.Val576Ile) rs750409379 0.00002
NM_000237.3(LPL):c.248C>T (p.Thr83Met) rs372267210 0.00002
NM_000237.3(LPL):c.547G>A (p.Asp183Asn) rs781614031 0.00002
NM_000243.3(MEFV):c.1082G>C (p.Arg361Thr) rs190405488 0.00002
NM_000243.3(MEFV):c.265G>A (p.Ala89Thr) rs104895124 0.00002
NM_000243.3(MEFV):c.955G>A (p.Glu319Lys) rs104895110 0.00002
NM_000245.4(MET):c.1640G>A (p.Arg547Gln) rs761951444 0.00002
NM_000245.4(MET):c.3054C>T (p.Asn1018=) rs369148519 0.00002
NM_000251.3(MSH2):c.2061C>G (p.Leu687=) rs63750032 0.00002
NM_000251.3(MSH2):c.2551C>A (p.Leu851Ile) rs267608015 0.00002
NM_000251.3(MSH2):c.2717T>C (p.Ile906Thr) rs587780687 0.00002
NM_000251.3(MSH2):c.703A>G (p.Lys235Glu) rs749442037 0.00002
NM_000251.3(MSH2):c.80C>T (p.Pro27Leu) rs750746034 0.00002
NM_000254.3(MTR):c.1559A>G (p.Tyr520Cys) rs1242741686 0.00002
NM_000255.4(MMUT):c.1531C>T (p.Arg511Ter) rs761525156 0.00002
NM_000255.4(MMUT):c.983T>C (p.Leu328Pro) rs965316043 0.00002
NM_000256.3(MYBPC3):c.2003G>A (p.Arg668His) rs727503191 0.00002
NM_000256.3(MYBPC3):c.2504G>T (p.Arg835Leu) rs527305885 0.00002
NM_000256.3(MYBPC3):c.251G>A (p.Gly84Asp) rs569824900 0.00002
NM_000256.3(MYBPC3):c.643C>T (p.Arg215Cys) rs397516063 0.00002
NM_000256.3(MYBPC3):c.682G>A (p.Asp228Asn) rs369300885 0.00002
NM_000257.4(MYH7):c.632C>T (p.Pro211Leu) rs727503277 0.00002
NM_000268.4(NF2):c.1013G>A (p.Arg338His) rs768053145 0.00002
NM_000268.4(NF2):c.1699G>A (p.Asp567Asn) rs757586383 0.00002
NM_000276.4(OCRL):c.2084G>A (p.Arg695Gln) rs773110186 0.00002
NM_000311.5(PRNP):c.695T>G (p.Met232Arg) rs74315409 0.00002
NM_000314.8(PTEN):c.-280C>T rs571072832 0.00002
NM_000314.8(PTEN):c.1078A>G (p.Ser360Gly) rs587781273 0.00002
NM_000321.3(RB1):c.1128-43C>T rs955333850 0.00002
NM_000321.3(RB1):c.2518G>A (p.Gly840Arg) rs374157786 0.00002
NM_000330.4(RS1):c.185-3188G>A rs267608665 0.00002
NM_000335.5(SCN5A):c.3316G>A (p.Glu1106Lys) rs199473193 0.00002
NM_000335.5(SCN5A):c.436G>A (p.Val146Met) rs199473061 0.00002
NM_000335.5(SCN5A):c.5960T>G (p.Leu1987Arg) rs145009013 0.00002
NM_000335.5(SCN5A):c.874G>A (p.Gly292Ser) rs199473085 0.00002
NM_000377.3(WAS):c.16A>G (p.Met6Val) rs782730988 0.00002
NM_000382.3(ALDH3A2):c.1443+1G>A rs199548781 0.00002
NM_000404.4(GLB1):c.175C>T (p.Arg59Cys) rs756878418 0.00002
NM_000431.4(MVK):c.1156G>A (p.Asp386Asn) rs104895380 0.00002
NM_000444.6(PHEX):c.1501G>A (p.Asp501Asn) rs373235530 0.00002
NM_000455.5(STK11):c.1040C>T (p.Ala347Val) rs587782058 0.00002
NM_000463.3(UGT1A1):c.1021C>T (p.Arg341Ter) rs72551349 0.00002
NM_000465.4(BARD1):c.1212C>G (p.Tyr404Ter) rs587782681 0.00002
NM_000465.4(BARD1):c.1569-13C>G rs587780018 0.00002
NM_000492.4(CFTR):c.1055G>A (p.Arg352Gln) rs121908753 0.00002
NM_000492.4(CFTR):c.1682C>A (p.Ala561Glu) rs121909047 0.00002
NM_000492.4(CFTR):c.1766G>A (p.Ser589Asn) rs397508300 0.00002
NM_000492.4(CFTR):c.1A>G (p.Met1Val) rs397508328 0.00002
NM_000492.4(CFTR):c.2491G>T (p.Glu831Ter) rs397508387 0.00002
NM_000492.4(CFTR):c.2687C>T (p.Thr896Ile) rs752617117 0.00002
NM_000492.4(CFTR):c.3266G>A (p.Trp1089Ter) rs78802634 0.00002
NM_000492.4(CFTR):c.3302T>A (p.Met1101Lys) rs36210737 0.00002
NM_000492.4(CFTR):c.3472C>T (p.Arg1158Ter) rs79850223 0.00002
NM_000492.4(CFTR):c.4426C>T (p.Gln1476Ter) rs374705585 0.00002
NM_000492.4(CFTR):c.532G>A (p.Gly178Arg) rs80282562 0.00002
NM_000492.4(CFTR):c.579+3A>G rs397508761 0.00002
NM_000492.4(CFTR):c.627A>G (p.Ala209=) rs397508773 0.00002
NM_000507.4(FBP1):c.472C>T (p.Arg158Trp) rs766005419 0.00002
NM_000518.5(HBB):c.262A>C (p.Thr88Pro) rs35553496 0.00002
NM_000535.7(PMS2):c.113C>T (p.Ala38Val) rs148270248 0.00002
NM_000535.7(PMS2):c.2264T>C (p.Ile755Thr) rs386833410 0.00002
NM_000540.3(RYR1):c.3127C>T (p.Arg1043Cys) rs111272095 0.00002
NM_000546.6(TP53):c.555C>T (p.Ser185=) rs367560109 0.00002
NM_000546.6(TP53):c.665C>T (p.Pro222Leu) rs146340390 0.00002
NM_000546.6(TP53):c.743G>A (p.Arg248Gln) rs11540652 0.00002
NM_000702.4(ATP1A2):c.2876C>T (p.Thr959Met) rs1226796744 0.00002
NM_000891.3(KCNJ2):c.236T>C (p.Ile79Thr) rs786205813 0.00002
NM_000918.4(P4HB):c.1000C>G (p.Leu334Val) rs1443873151 0.00002
NM_001012339.3(DNAJC21):c.983+1G>A rs368148362 0.00002
NM_001018005.2(TPM1):c.62G>T (p.Arg21Leu) rs730881151 0.00002
NM_001032386.2(SUOX):c.796G>A (p.Gly266Ser) rs144064367 0.00002
NM_001042492.3(NF1):c.2617C>T (p.Arg873Cys) rs199474739 0.00002
NM_001042492.3(NF1):c.4009C>T (p.Arg1337Trp) rs146306756 0.00002
NM_001042492.3(NF1):c.4262C>T (p.Pro1421Leu) rs753997885 0.00002
NM_001042492.3(NF1):c.5423C>T (p.Thr1808Met) rs760649828 0.00002
NM_001042492.3(NF1):c.5470A>G (p.Ile1824Val) rs370858405 0.00002
NM_001042492.3(NF1):c.7484C>T (p.Ser2495Phe) rs757245615 0.00002
NM_001048174.2(MUTYH):c.1226G>A (p.Arg409Gln) rs587782120 0.00002
NM_001048174.2(MUTYH):c.504G>C (p.Glu168Asp) rs587781645 0.00002
NM_001048174.2(MUTYH):c.637C>T (p.Arg213Trp) rs34126013 0.00002
NM_001060.6(TBXA2R):c.179G>T (p.Arg60Leu) rs34377097 0.00002
NM_001077415.3(CRELD1):c.973G>A (p.Glu325Lys) rs755981922 0.00002
NM_001079866.2(BCS1L):c.-50+388C>G rs1006907254 0.00002
NM_001079866.2(BCS1L):c.-50+405A>G rs898301590 0.00002
NM_001083116.3(PRF1):c.160C>T (p.Arg54Cys) rs200430442 0.00002
NM_001102592.2(HENMT1):c.253C>T (p.Arg85Ter) rs752974170 0.00002
NM_001110792.2(MECP2):c.490C>G (p.Pro164Ala) rs179363900 0.00002
NM_001128425.2(MUTYH):c.161G>A (p.Cys54Tyr) rs560905645 0.00002
NM_001142800.2(EYS):c.1999C>T (p.Arg667Cys) rs765763663 0.00002
NM_001142800.2(EYS):c.8805C>A (p.Tyr2935Ter) rs527236067 0.00002
NM_001148.6(ANK2):c.2074A>G (p.Thr692Ala) rs761413864 0.00002
NM_001199107.2(TBC1D24):c.1544C>T (p.Ala515Val) rs267607105 0.00002
NM_001256789.3(CACNA1F):c.1108G>A (p.Val370Ile) rs782458308 0.00002
NM_001256789.3(CACNA1F):c.1276+34G>A rs782575860 0.00002
NM_001271.4(CHD2):c.4435G>A (p.Val1479Met) rs779953123 0.00002
NM_001317778.2(SFTPC):c.318C>A (p.Tyr106Ter) rs201933678 0.00002
NM_001346754.2(PIGW):c.1504C>T (p.Gln502Ter) rs372135184 0.00002
NM_001353788.2(APBA2):c.229G>A (p.Val77Met) rs140795962 0.00002
NM_001360016.2(G6PD):c.406C>T (p.Arg136Cys) rs979416826 0.00002
NM_001360016.2(G6PD):c.703C>T (p.Leu235Phe) rs782757170 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_001848.3(COL6A1):c.821C>T (p.Pro274Leu) rs201093313 0.00002
NM_002103.5(GYS1):c.1258C>T (p.Leu420=) rs761332247 0.00002
NM_002354.3(EPCAM):c.38T>C (p.Leu13Pro) rs776646187 0.00002
NM_002485.5(NBN):c.120G>T (p.Ser40=) rs774989816 0.00002
NM_002485.5(NBN):c.1591A>G (p.Ile531Val) rs587782330 0.00002
NM_002485.5(NBN):c.1849G>A (p.Glu617Lys) rs766602873 0.00002
NM_002485.5(NBN):c.2029G>A (p.Asp677Asn) rs730881856 0.00002
NM_002485.5(NBN):c.929T>C (p.Ile310Thr) rs753812768 0.00002
NM_002528.7(NTHL1):c.115+1G>A rs749908882 0.00002
NM_002576.5(PAK1):c.643C>T (p.Arg215Trp) rs887262054 0.00002
NM_002691.4(POLD1):c.132G>A (p.Met44Ile) rs757575448 0.00002
NM_002691.4(POLD1):c.2155-6C>T rs112481714 0.00002
NM_002691.4(POLD1):c.2565-12G>A rs779262089 0.00002
NM_002691.4(POLD1):c.3157C>T (p.Arg1053Cys) rs779208942 0.00002
NM_002769.5(PRSS1):c.292C>A (p.Gln98Lys) rs750348889 0.00002
NM_002834.5(PTPN11):c.455G>A (p.Arg152His) rs397507521 0.00002
NM_002878.4(RAD51D):c.164G>A (p.Arg55Gln) rs151198586 0.00002
NM_002878.4(RAD51D):c.363del (p.Ala122fs) rs730881935 0.00002
NM_002878.4(RAD51D):c.898C>T (p.Arg300Ter) rs750621215 0.00002
NM_002878.4(RAD51D):c.899G>A (p.Arg300Gln) rs761290755 0.00002
NM_002890.3(RASA1):c.2288A>T (p.Glu763Val) rs373098580 0.00002
NM_002907.4(RECQL):c.502-10C>T rs1565569497 0.00002
NM_002907.4(RECQL):c.868-10T>A rs752255394 0.00002
NM_003038.5(SLC1A4):c.1370G>A (p.Arg457Gln) rs767412828 0.00002
NM_003079.5(SMARCE1):c.156+34C>T rs1035809077 0.00002
NM_003466.4(PAX8):c.709G>C (p.Glu237Gln) rs199890664 0.00002
NM_003482.4(KMT2D):c.4427C>G (p.Ser1476Cys) rs1227169455 0.00002
NM_003620.4(PPM1D):c.1714C>T (p.Arg572Ter) rs765769406 0.00002
NM_003849.4(SUCLG1):c.548T>C (p.Ile183Thr) rs140626260 0.00002
NM_004004.6(GJB2):c.71G>A (p.Trp24Ter) rs104894396 0.00002
NM_004006.3(DMD):c.2528A>T (p.Glu843Val) rs202167701 0.00002
NM_004006.3(DMD):c.3101C>T (p.Ser1034Phe) rs794727380 0.00002
NM_004006.3(DMD):c.7359A>G (p.Glu2453=) rs780283825 0.00002
NM_004092.4(ECHS1):c.161G>A (p.Arg54His) rs375266808 0.00002
NM_004092.4(ECHS1):c.394G>A (p.Ala132Thr) rs770931871 0.00002
NM_004092.4(ECHS1):c.713C>T (p.Ala238Val) rs200584793 0.00002
NM_004360.5(CDH1):c.1004G>A (p.Arg335Gln) rs373364873 0.00002
NM_004360.5(CDH1):c.1118C>T (p.Pro373Leu) rs587782359 0.00002
NM_004360.5(CDH1):c.1273G>A (p.Val425Ile) rs570930882 0.00002
NM_004360.5(CDH1):c.1679C>T (p.Thr560Met) rs746481984 0.00002
NM_004360.5(CDH1):c.2359G>A (p.Val787Ile) rs766270336 0.00002
NM_004360.5(CDH1):c.269G>A (p.Arg90Gln) rs587782647 0.00002
NM_004360.5(CDH1):c.371G>A (p.Arg124His) rs115418995 0.00002
NM_004366.6(CLCN2):c.1709G>A (p.Trp570Ter) rs201330912 0.00002
NM_004387.4(NKX2-5):c.943G>T (p.Val315Leu) rs201249977 0.00002
NM_004656.4(BAP1):c.2076G>A (p.Val692=) rs747712653 0.00002
NM_004937.3(CTNS):c.198_218del (p.Ile67_Pro73del) rs113994204 0.00002
NM_005431.2(XRCC2):c.644G>A (p.Arg215Gln) rs762828701 0.00002
NM_005472.5(KCNE3):c.10A>G (p.Thr4Ala) rs200856070 0.00002
NM_005548.3(KARS1):c.1430G>A (p.Arg477His) rs778748895 0.00002
NM_005689.4(ABCB6):c.459del (p.Trp154fs) rs755723161 0.00002
NM_005732.4(RAD50):c.1992A>G (p.Ala664=) rs773126534 0.00002
NM_005732.4(RAD50):c.282A>G (p.Ile94Met) rs786202847 0.00002
NM_006005.3(WFS1):c.2007T>G (p.Tyr669Ter) rs1443751733 0.00002
NM_006218.4(PIK3CA):c.1767T>C (p.Asp589=) rs199540873 0.00002
NM_006218.4(PIK3CA):c.2418T>C (p.Asp806=) rs199693043 0.00002
NM_006231.4(POLE):c.1717C>T (p.Arg573Trp) rs373000452 0.00002
NM_006231.4(POLE):c.2099C>T (p.Pro700Leu) rs777002868 0.00002
NM_006231.4(POLE):c.2209A>G (p.Thr737Ala) rs779102091 0.00002
NM_006231.4(POLE):c.2527A>G (p.Ile843Val) rs780758461 0.00002
NM_006231.4(POLE):c.5843A>G (p.Asp1948Gly) rs372504703 0.00002
NM_006579.3(EBP):c.517G>A (p.Gly173Arg) rs781964042 0.00002
NM_006736.6(DNAJB2):c.352+1G>A rs756614404 0.00002
NM_007194.4(CHEK2):c.1175C>T (p.Ala392Val) rs373073383 0.00002
NM_007194.4(CHEK2):c.1562G>A (p.Arg521Gln) rs373959274 0.00002
NM_007194.4(CHEK2):c.157T>A (p.Ser53Thr) rs371657037 0.00002
NM_007194.4(CHEK2):c.1586G>A (p.Gly529Asp) rs751653049 0.00002
NM_007194.4(CHEK2):c.475T>C (p.Tyr159His) rs781254437 0.00002
NM_007194.4(CHEK2):c.478A>G (p.Ile160Val) rs876659950 0.00002
NM_007294.4(BRCA1):c.2006T>C (p.Met669Thr) rs80356895 0.00002
NM_007294.4(BRCA1):c.2662C>T (p.His888Tyr) rs80357480 0.00002
NM_007294.4(BRCA1):c.3012G>A (p.Glu1004=) rs786201784 0.00002
NM_007294.4(BRCA1):c.3657G>C (p.Glu1219Asp) rs80356876 0.00002
NM_007294.4(BRCA1):c.4766G>A (p.Arg1589His) rs80357341 0.00002
NM_007294.4(BRCA1):c.4955T>C (p.Met1652Thr) rs80356968 0.00002
NM_007294.4(BRCA1):c.5074+23A>G rs778115859 0.00002
NM_007294.4(BRCA1):c.5074+6C>G rs80358032 0.00002
NM_007294.4(BRCA1):c.509G>A (p.Arg170Gln) rs80357264 0.00002
NM_007294.4(BRCA1):c.5175A>G (p.Glu1725=) rs191373374 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_012079.6(DGAT1):c.1183C>T (p.Arg395Ter) rs372817613 0.00002
NM_012213.3(MLYCD):c.688C>T (p.Arg230Cys) rs1344757641 0.00002
NM_013382.7(POMT2):c.320C>T (p.Pro107Leu) rs398124264 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_014804.3(KIAA0753):c.970C>T (p.Arg324Ter) rs746068882 0.00002
NM_015103.3(PLXND1):c.5081A>G (p.His1694Arg) rs761108683 0.00002
NM_015559.3(SETBP1):c.3832C>G (p.Leu1278Val) rs751429016 0.00002
NM_015937.6(PIGT):c.514C>T (p.Arg172Cys) rs778531326 0.00002
NM_017763.6(RNF43):c.185A>G (p.Asn62Ser) rs1206047972 0.00002
NM_017802.4(DNAAF5):c.416A>G (p.Glu139Gly) rs1240120554 0.00002
NM_017849.4(TMEM127):c.410-6T>G rs765971817 0.00002
NM_017882.3(CLN6):c.775G>A (p.Gly259Ser) rs150363441 0.00002
NM_018941.4(CLN8):c.208C>T (p.Arg70Cys) rs765097897 0.00002
NM_019032.6(ADAMTSL4):c.1666C>T (p.Arg556Ter) rs748487774 0.00002
NM_019032.6(ADAMTSL4):c.2008C>T (p.Arg670Ter) rs368482584 0.00002
NM_019594.4(LRRC8A):c.203C>T (p.Ser68Leu) rs147311433 0.00002
NM_020435.4(GJC2):c.217C>A (p.Pro73Thr) rs1330596542 0.00002
NM_020442.6(VARS2):c.1834_1835del (p.Leu612fs) rs777028011 0.00002
NM_020632.3(ATP6V0A4):c.1691+2dup rs753232747 0.00002
NM_020822.3(KCNT1):c.3451G>A (p.Glu1151Lys) rs767450181 0.00002
NM_020975.6(RET):c.134C>T (p.Ala45Val) rs763526874 0.00002
NM_020975.6(RET):c.1678C>T (p.Pro560Ser) rs748852160 0.00002
NM_020975.6(RET):c.1941C>T (p.Ile647=) rs75225191 0.00002
NM_020975.6(RET):c.973G>A (p.Ala325Thr) rs779719517 0.00002
NM_021133.4(RNASEL):c.221T>C (p.Ile74Thr) rs756820819 0.00002
NM_022089.4(ATP13A2):c.2368G>A (p.Glu790Lys) rs754208001 0.00002
NM_022455.5(NSD1):c.6887T>C (p.Val2296Ala) rs754309202 0.00002
NM_024408.4(NOTCH2):c.137A>G (p.Asn46Ser) rs61788900 0.00002
NM_024408.4(NOTCH2):c.85C>T (p.Arg29Ter) rs1174406807 0.00002
NM_024675.4(PALB2):c.1093A>G (p.Arg365Gly) rs773001248 0.00002
NM_024675.4(PALB2):c.1379A>G (p.Gln460Arg) rs749494645 0.00002
NM_024675.4(PALB2):c.2257C>T (p.Arg753Ter) rs180177110 0.00002
NM_024675.4(PALB2):c.2903C>G (p.Ala968Gly) rs369132015 0.00002
NM_030653.4(DDX11):c.767G>A (p.Arg256Gln) rs762392717 0.00002
NM_030662.4(MAP2K2):c.787G>A (p.Gly263Arg) rs730880522 0.00002
NM_030948.6(PHACTR1):c.1561C>T (p.Arg521Cys) rs748743403 0.00002
NM_032043.3(BRIP1):c.-95G>A rs892920553 0.00002
NM_032043.3(BRIP1):c.1899C>G (p.Ile633Met) rs28997572 0.00002
NM_032043.3(BRIP1):c.3191T>C (p.Phe1064Ser) rs916937983 0.00002
NM_032043.3(BRIP1):c.3298G>A (p.Asp1100Asn) rs587781923 0.00002
NM_032043.3(BRIP1):c.518G>A (p.Arg173His) rs761432927 0.00002
NM_032119.4(ADGRV1):c.13655dup (p.Asn4553fs) rs765376986 0.00002
NM_032444.4(SLX4):c.4021A>G (p.Arg1341Gly) rs747230215 0.00002
NM_032638.5(GATA2):c.1017+8C>T rs200848213 0.00002
NM_032977.4(CASP10):c.325C>T (p.Arg109Ter) rs201601111 0.00002
NM_033380.3(COL4A5):c.2107A>G (p.Ile703Val) rs104886155 0.00002
NM_052845.4(MMAB):c.548A>T (p.His183Leu) rs752866643 0.00002
NM_052859.4(RFT1):c.454A>G (p.Lys152Glu) rs763862849 0.00002
NM_052874.5(STX1B):c.121G>A (p.Gly41Ser) rs1428045237 0.00002
NM_058216.3(RAD51C):c.1026+43C>T rs750859385 0.00002
NM_058216.3(RAD51C):c.146-3C>T rs765143155 0.00002
NM_058216.3(RAD51C):c.719T>C (p.Ile240Thr) rs539341386 0.00002
NM_058216.3(RAD51C):c.773G>A (p.Arg258His) rs267606997 0.00002
NM_145109.3(MAP2K3):c.773T>C (p.Met258Thr) rs1433036479 0.00002
NM_152564.5(VPS13B):c.1079del (p.Asp360fs) rs767518464 0.00002
NM_153033.5(KCTD7):c.251G>A (p.Arg84Gln) rs200575329 0.00002
NM_153682.3(PIGP):c.22C>G (p.Pro8Ala) rs201170767 0.00002
NM_177550.5(SLC13A5):c.434C>T (p.Thr145Met) rs1202091819 0.00002
NM_183050.4(BCKDHB):c.528C>G (p.Asn176Lys) rs763645251 0.00002
NM_194277.3(FRMD7):c.875T>C (p.Leu292Pro) rs192346335 0.00002
NM_201548.5(CERKL):c.481+2T>G rs753994107 0.00002
NM_206933.4(USH2A):c.1001G>A (p.Arg334Gln) rs758303489 0.00002
NM_000016.6(ACADM):c.698T>C (p.Ile233Thr) rs770273135 0.00001
NM_000018.4(ACADVL):c.1127T>C (p.Phe376Ser) rs758928307 0.00001
NM_000018.4(ACADVL):c.853G>C (p.Glu285Gln) rs202216257 0.00001
NM_000030.3(AGXT):c.107G>A (p.Arg36His) rs180177162 0.00001
NM_000033.4(ABCD1):c.337C>T (p.Arg113Cys) rs1557052306 0.00001
NM_000038.6(APC):c.-19+416C>T rs976627265 0.00001
NM_000038.6(APC):c.1243G>A (p.Ala415Thr) rs756336949 0.00001
NM_000038.6(APC):c.1283A>G (p.Glu428Gly) rs750487805 0.00001
NM_000038.6(APC):c.1441G>A (p.Val481Met) rs587780542 0.00001
NM_000038.6(APC):c.1564A>G (p.Met522Val) rs587781692 0.00001
NM_000038.6(APC):c.1580G>C (p.Arg527Thr) rs1554081889 0.00001
NM_000038.6(APC):c.1610G>A (p.Ser537Asn) rs1001526630 0.00001
NM_000038.6(APC):c.1925T>C (p.Val642Ala) rs759528091 0.00001
NM_000038.6(APC):c.2414G>A (p.Arg805Gln) rs200593940 0.00001
NM_000038.6(APC):c.2472A>T (p.Pro824=) rs746965994 0.00001
NM_000038.6(APC):c.262C>T (p.Arg88Trp) rs746592911 0.00001
NM_000038.6(APC):c.2642C>T (p.Ser881Phe) rs535344579 0.00001
NM_000038.6(APC):c.3229G>C (p.Val1077Leu) rs1332655563 0.00001
NM_000038.6(APC):c.3295G>A (p.Val1099Ile) rs730881245 0.00001
NM_000038.6(APC):c.3804A>G (p.Pro1268=) rs878853442 0.00001
NM_000038.6(APC):c.3910A>G (p.Ile1304Val) rs770157475 0.00001
NM_000038.6(APC):c.4213G>A (p.Val1405Ile) rs761966904 0.00001
NM_000038.6(APC):c.4333A>G (p.Thr1445Ala) rs587780597 0.00001
NM_000038.6(APC):c.4414G>A (p.Val1472Ile) rs878853445 0.00001
NM_000038.6(APC):c.4594G>A (p.Asp1532Asn) rs730881251 0.00001
NM_000038.6(APC):c.460G>A (p.Glu154Lys) rs786202822 0.00001
NM_000038.6(APC):c.4831C>G (p.Gln1611Glu) rs774847203 0.00001
NM_000038.6(APC):c.4833G>C (p.Gln1611His) rs762030106 0.00001
NM_000038.6(APC):c.5017G>A (p.Glu1673Lys) rs587779796 0.00001
NM_000038.6(APC):c.5068A>G (p.Ile1690Val) rs201142277 0.00001
NM_000038.6(APC):c.5108G>C (p.Gly1703Ala) rs587778042 0.00001
NM_000038.6(APC):c.5138T>C (p.Leu1713Ser) rs587779797 0.00001
NM_000038.6(APC):c.5365G>C (p.Val1789Leu) rs1554086666 0.00001
NM_000038.6(APC):c.5816A>T (p.Asp1939Val) rs754783550 0.00001
NM_000038.6(APC):c.5987A>T (p.Gln1996Leu) rs587779802 0.00001
NM_000038.6(APC):c.6136G>A (p.Ala2046Thr) rs770406711 0.00001
NM_000038.6(APC):c.6203T>C (p.Met2068Thr) rs863224547 0.00001
NM_000038.6(APC):c.6710G>A (p.Arg2237Gln) rs1299714632 0.00001
NM_000038.6(APC):c.6736G>A (p.Val2246Ile) rs1055180096 0.00001
NM_000038.6(APC):c.6965A>G (p.Gln2322Arg) rs1057517549 0.00001
NM_000038.6(APC):c.737C>T (p.Ser246Phe) rs754667638 0.00001
NM_000038.6(APC):c.7389A>C (p.Glu2463Asp) rs587782127 0.00001
NM_000038.6(APC):c.7720C>A (p.Leu2574Ile) rs876659753 0.00001
NM_000038.6(APC):c.7778A>G (p.Asn2593Ser) rs367676584 0.00001
NM_000038.6(APC):c.7822G>A (p.Ala2608Thr) rs878853471 0.00001
NM_000038.6(APC):c.7916A>C (p.Glu2639Ala) rs778376399 0.00001
NM_000038.6(APC):c.8134C>T (p.Pro2712Ser) rs76933416 0.00001
NM_000038.6(APC):c.8161C>T (p.Arg2721Cys) rs587782312 0.00001
NM_000038.6(APC):c.8275C>T (p.Arg2759Cys) rs755366812 0.00001
NM_000038.6(APC):c.8524T>G (p.Ser2842Ala) rs587780610 0.00001
NM_000044.6(AR):c.1175C>G (p.Pro392Arg) rs773996740 0.00001
NM_000044.6(AR):c.2184C>G (p.Asn728Lys) rs768869912 0.00001
NM_000044.6(AR):c.2191G>A (p.Val731Met) rs137852571 0.00001
NM_000048.4(ASL):c.1255_1256del (p.Leu419fs) rs757109353 0.00001
NM_000048.4(ASL):c.283C>T (p.Arg95Cys) rs28940585 0.00001
NM_000051.4(ATM):c.1049C>T (p.Ala350Val) rs375049090 0.00001
NM_000051.4(ATM):c.104G>A (p.Arg35Gln) rs876659324 0.00001
NM_000051.4(ATM):c.1444A>C (p.Lys482Gln) rs202173660 0.00001
NM_000051.4(ATM):c.149A>G (p.Lys50Arg) rs1479478300 0.00001
NM_000051.4(ATM):c.2167G>T (p.Val723Leu) rs1419404231 0.00001
NM_000051.4(ATM):c.2336T>C (p.Met779Thr) rs587778066 0.00001
NM_000051.4(ATM):c.2492A>G (p.Asp831Gly) rs587781352 0.00001
NM_000051.4(ATM):c.2879C>A (p.Pro960His) rs587779828 0.00001
NM_000051.4(ATM):c.2922-8T>A rs545892367 0.00001
NM_000051.4(ATM):c.2924A>G (p.Asn975Ser) rs730881354 0.00001
NM_000051.4(ATM):c.3240C>A (p.Asp1080Glu) rs149911447 0.00001
NM_000051.4(ATM):c.3256C>T (p.Arg1086Cys) rs201780199 0.00001
NM_000051.4(ATM):c.3299C>T (p.Thr1100Met) rs189445371 0.00001
NM_000051.4(ATM):c.3407A>G (p.His1136Arg) rs768490475 0.00001
NM_000051.4(ATM):c.3549T>C (p.Asn1183=) rs767377764 0.00001
NM_000051.4(ATM):c.3576G>A (p.Lys1192=) rs587776551 0.00001
NM_000051.4(ATM):c.3613C>T (p.Arg1205Cys) rs760928285 0.00001
NM_000051.4(ATM):c.3676G>C (p.Asp1226His) rs370974808 0.00001
NM_000051.4(ATM):c.4012A>G (p.Ser1338Gly) rs958750512 0.00001
NM_000051.4(ATM):c.4091A>G (p.Asp1364Gly) rs751169467 0.00001
NM_000051.4(ATM):c.4151A>G (p.His1384Arg) rs757172522 0.00001
NM_000051.4(ATM):c.4468A>G (p.Ser1490Gly) rs876658711 0.00001
NM_000051.4(ATM):c.4802G>A (p.Ser1601Asn) rs587782506 0.00001
NM_000051.4(ATM):c.5362G>A (p.Gly1788Ser) rs730881373 0.00001
NM_000051.4(ATM):c.5658T>C (p.Pro1886=) rs940182945 0.00001
NM_000051.4(ATM):c.5882A>G (p.Tyr1961Cys) rs56399311 0.00001
NM_000051.4(ATM):c.6134C>A (p.Ala2045Asp) rs879254147 0.00001
NM_000051.4(ATM):c.655T>C (p.Cys219Arg) rs771685059 0.00001
NM_000051.4(ATM):c.6670A>G (p.Met2224Val) rs545873723 0.00001
NM_000051.4(ATM):c.6679C>T (p.Arg2227Cys) rs564652222 0.00001
NM_000051.4(ATM):c.6681C>T (p.Arg2227=) rs775850434 0.00001
NM_000051.4(ATM):c.6848C>T (p.Ser2283Leu) rs876660730 0.00001
NM_000051.4(ATM):c.6929G>A (p.Ser2310Asn) rs1381019767 0.00001
NM_000051.4(ATM):c.692A>G (p.His231Arg) rs587782229 0.00001
NM_000051.4(ATM):c.6974C>T (p.Ala2325Val) rs200940211 0.00001
NM_000051.4(ATM):c.718C>T (p.Leu240Phe) rs1210038351 0.00001
NM_000051.4(ATM):c.7316T>C (p.Val2439Ala) rs776266049 0.00001
NM_000051.4(ATM):c.7463G>A (p.Cys2488Tyr) rs774281788 0.00001
NM_000051.4(ATM):c.7630-2A>C rs587779866 0.00001
NM_000051.4(ATM):c.7871G>C (p.Cys2624Ser) rs759392666 0.00001
NM_000051.4(ATM):c.7880A>G (p.Tyr2627Cys) rs767670019 0.00001
NM_000051.4(ATM):c.7993C>G (p.Pro2665Ala) rs1555126304 0.00001
NM_000051.4(ATM):c.8155C>T (p.Arg2719Cys) rs138526014 0.00001
NM_000051.4(ATM):c.8228C>T (p.Thr2743Met) rs730881321 0.00001
NM_000051.4(ATM):c.8275C>T (p.Pro2759Ser) rs764906663 0.00001
NM_000051.4(ATM):c.8438T>C (p.Phe2813Ser) rs1555138027 0.00001
NM_000051.4(ATM):c.8494C>T (p.Arg2832Cys) rs587779872 0.00001
NM_000051.4(ATM):c.8497T>C (p.Tyr2833His) rs774171813 0.00001
NM_000051.4(ATM):c.8576C>T (p.Ser2859Phe) rs786203542 0.00001
NM_000051.4(ATM):c.902-22A>C rs766650801 0.00001
NM_000051.4(ATM):c.9023G>A (p.Arg3008His) rs587781894 0.00001
NM_000051.4(ATM):c.9166G>T (p.Val3056Leu) rs371767164 0.00001
NM_000051.4(ATM):c.94C>T (p.Arg32Cys) rs148061139 0.00001
NM_000053.4(ATP7B):c.2762G>A (p.Ser921Asn) rs1230241288 0.00001
NM_000053.4(ATP7B):c.3959G>C (p.Arg1320Thr) rs548512104 0.00001
NM_000053.4(ATP7B):c.3964C>T (p.Arg1322Cys) rs534984209 0.00001
NM_000053.4(ATP7B):c.51+4A>T rs369488210 0.00001
NM_000054.7(AVPR2):c.784G>A (p.Val262Met) rs1557100878 0.00001
NM_000057.4(BLM):c.1417A>G (p.Thr473Ala) rs1596229797 0.00001
NM_000057.4(BLM):c.1613C>T (p.Ala538Val) rs778593808 0.00001
NM_000057.4(BLM):c.2258T>A (p.Leu753Ter) rs1400231534 0.00001
NM_000057.4(BLM):c.2474C>T (p.Pro825Leu) rs749632465 0.00001
NM_000057.4(BLM):c.2497G>A (p.Ala833Thr) rs763918749 0.00001
NM_000057.4(BLM):c.2561G>A (p.Ser854Asn) rs758692622 0.00001
NM_000057.4(BLM):c.2784T>C (p.Asp928=) rs1032746564 0.00001
NM_000057.4(BLM):c.302G>C (p.Arg101Thr) rs781707344 0.00001
NM_000057.4(BLM):c.3098T>C (p.Ile1033Thr) rs1060500647 0.00001
NM_000057.4(BLM):c.3875-2A>G rs150421256 0.00001
NM_000057.4(BLM):c.3875-6T>C rs1021714718 0.00001
NM_000057.4(BLM):c.472G>A (p.Asp158Asn) rs1210664602 0.00001
NM_000057.4(BLM):c.572G>T (p.Arg191Ile) rs569086568 0.00001
NM_000057.4(BLM):c.635C>T (p.Ser212Phe) rs777938065 0.00001
NM_000059.4(BRCA2):c.10076A>G (p.Glu3359Gly) rs80358389 0.00001
NM_000059.4(BRCA2):c.10150C>T (p.Arg3384Ter) rs397507568 0.00001
NM_000059.4(BRCA2):c.1244A>G (p.His415Arg) rs80358417 0.00001
NM_000059.4(BRCA2):c.1343G>A (p.Arg448His) rs80358423 0.00001
NM_000059.4(BRCA2):c.1441A>G (p.Ile481Val) rs760559435 0.00001
NM_000059.4(BRCA2):c.1550A>G (p.Asn517Ser) rs80358439 0.00001
NM_000059.4(BRCA2):c.2127G>C (p.Leu709=) rs554040246 0.00001
NM_000059.4(BRCA2):c.2148G>C (p.Gln716His) rs876659550 0.00001
NM_000059.4(BRCA2):c.2401A>G (p.Asn801Asp) rs765279896 0.00001
NM_000059.4(BRCA2):c.2452A>C (p.Asn818His) rs750667529 0.00001
NM_000059.4(BRCA2):c.2491G>A (p.Val831Ile) rs397507287 0.00001
NM_000059.4(BRCA2):c.2601T>G (p.Thr867=) rs730881589 0.00001
NM_000059.4(BRCA2):c.2729A>G (p.His910Arg) rs760792501 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.2830A>T (p.Lys944Ter) rs80358533 0.00001
NM_000059.4(BRCA2):c.2918C>T (p.Ser973Leu) rs397507296 0.00001
NM_000059.4(BRCA2):c.2946A>G (p.Ile982Met) rs80358541 0.00001
NM_000059.4(BRCA2):c.2T>G (p.Met1Arg) rs80358547 0.00001
NM_000059.4(BRCA2):c.3088T>G (p.Phe1030Val) rs80358554 0.00001
NM_000059.4(BRCA2):c.3245A>G (p.Lys1082Arg) rs80358569 0.00001
NM_000059.4(BRCA2):c.3264dup (p.Gln1089fs) rs80359380 0.00001
NM_000059.4(BRCA2):c.3509C>T (p.Ala1170Val) rs80358599 0.00001
NM_000059.4(BRCA2):c.375T>A (p.Asp125Glu) rs80358616 0.00001
NM_000059.4(BRCA2):c.3767A>C (p.His1256Pro) rs80358618 0.00001
NM_000059.4(BRCA2):c.3814A>G (p.Met1272Val) rs80358624 0.00001
NM_000059.4(BRCA2):c.4023A>C (p.Ser1341=) rs276174840 0.00001
NM_000059.4(BRCA2):c.4183G>T (p.Ala1395Ser) rs431825318 0.00001
NM_000059.4(BRCA2):c.438A>G (p.Leu146=) rs200942633 0.00001
NM_000059.4(BRCA2):c.449A>G (p.His150Arg) rs397507722 0.00001
NM_000059.4(BRCA2):c.5120C>T (p.Thr1707Ile) rs786202354 0.00001
NM_000059.4(BRCA2):c.5182G>A (p.Asp1728Asn) rs80358744 0.00001
NM_000059.4(BRCA2):c.5207A>G (p.Gln1736Arg) rs1183489363 0.00001
NM_000059.4(BRCA2):c.5284T>G (p.Tyr1762Asp) rs1192019733 0.00001
NM_000059.4(BRCA2):c.5590G>A (p.Asp1864Asn) rs587781536 0.00001
NM_000059.4(BRCA2):c.562G>A (p.Val188Met) rs1555281063 0.00001
NM_000059.4(BRCA2):c.5729A>T (p.Asn1910Ile) rs276174863 0.00001
NM_000059.4(BRCA2):c.5882G>A (p.Ser1961Asn) rs80358820 0.00001
NM_000059.4(BRCA2):c.5885T>C (p.Ile1962Thr) rs1060502377 0.00001
NM_000059.4(BRCA2):c.6131G>T (p.Gly2044Val) rs56191579 0.00001
NM_000059.4(BRCA2):c.6281A>G (p.Tyr2094Cys) rs397507838 0.00001
NM_000059.4(BRCA2):c.6386A>G (p.Glu2129Gly) rs1566234469 0.00001
NM_000059.4(BRCA2):c.6399_6401del (p.Asn2135del) rs80359581 0.00001
NM_000059.4(BRCA2):c.6443C>A (p.Ser2148Tyr) rs80358880 0.00001
NM_000059.4(BRCA2):c.6842-19A>G rs81002865 0.00001
NM_000059.4(BRCA2):c.6953G>A (p.Arg2318Gln) rs80358921 0.00001
NM_000059.4(BRCA2):c.6991A>G (p.Thr2331Ala) rs80358926 0.00001
NM_000059.4(BRCA2):c.7180A>T (p.Arg2394Ter) rs80358946 0.00001
NM_000059.4(BRCA2):c.7307A>T (p.Asn2436Ile) rs80358955 0.00001
NM_000059.4(BRCA2):c.7463G>A (p.Arg2488Lys) rs80358968 0.00001
NM_000059.4(BRCA2):c.7481G>A (p.Arg2494Gln) rs80358973 0.00001
NM_000059.4(BRCA2):c.754G>A (p.Asp252Asn) rs549269828 0.00001
NM_000059.4(BRCA2):c.7618-19G>T rs371417084 0.00001
NM_000059.4(BRCA2):c.7633G>A (p.Val2545Ile) rs80358990 0.00001
NM_000059.4(BRCA2):c.7871A>G (p.Tyr2624Cys) rs431825358 0.00001
NM_000059.4(BRCA2):c.7928C>G (p.Ala2643Gly) rs80359018 0.00001
NM_000059.4(BRCA2):c.793+1G>A rs81002846 0.00001
NM_000059.4(BRCA2):c.7930A>G (p.Asn2644Asp) rs431825360 0.00001
NM_000059.4(BRCA2):c.7992T>A (p.Ile2664=) rs80359800 0.00001
NM_000059.4(BRCA2):c.7A>G (p.Ile3Val) rs770479195 0.00001
NM_000059.4(BRCA2):c.8009C>T (p.Ser2670Leu) rs80359035 0.00001
NM_000059.4(BRCA2):c.811G>A (p.Gly271Arg) rs786204274 0.00001
NM_000059.4(BRCA2):c.8153T>C (p.Ile2718Thr) rs80359060 0.00001
NM_000059.4(BRCA2):c.8243G>A (p.Gly2748Asp) rs80359071 0.00001
NM_000059.4(BRCA2):c.8350C>T (p.Arg2784Trp) rs80359075 0.00001
NM_000059.4(BRCA2):c.8351G>A (p.Arg2784Gln) rs80359076 0.00001
NM_000059.4(BRCA2):c.8518A>G (p.Ile2840Val) rs80359103 0.00001
NM_000059.4(BRCA2):c.8524C>T (p.Arg2842Cys) rs80359104 0.00001
NM_000059.4(BRCA2):c.8647C>T (p.Pro2883Ser) rs80359122 0.00001
NM_000059.4(BRCA2):c.8668C>A (p.Leu2890Ile) rs80359127 0.00001
NM_000059.4(BRCA2):c.8686C>T (p.Arg2896Cys) rs373203204 0.00001
NM_000059.4(BRCA2):c.8764A>G (p.Ser2922Gly) rs80359132 0.00001
NM_000059.4(BRCA2):c.8902A>G (p.Thr2968Ala) rs587782021 0.00001
NM_000059.4(BRCA2):c.8997G>A (p.Leu2999=) rs80359804 0.00001
NM_000059.4(BRCA2):c.9117G>A (p.Pro3039=) rs28897756 0.00001
NM_000059.4(BRCA2):c.9154C>T (p.Arg3052Trp) rs45580035 0.00001
NM_000059.4(BRCA2):c.9242T>C (p.Val3081Ala) rs80359189 0.00001
NM_000059.4(BRCA2):c.9304G>A (p.Ala3102Thr) rs747073940 0.00001
NM_000059.4(BRCA2):c.9371A>T (p.Asn3124Ile) rs28897759 0.00001
NM_000059.4(BRCA2):c.9442G>T (p.Ala3148Ser) rs949790323 0.00001
NM_000059.4(BRCA2):c.9645T>A (p.Leu3215=) rs755111487 0.00001
NM_000059.4(BRCA2):c.9649-45G>C rs376783622 0.00001
NM_000059.4(BRCA2):c.964A>C (p.Lys322Gln) rs11571640 0.00001
NM_000069.3(CACNA1S):c.520C>T (p.Arg174Trp) rs772226819 0.00001
NM_000075.4(CDK4):c.520G>A (p.Val174Met) rs780052789 0.00001
NM_000075.4(CDK4):c.632+9C>T rs1192976748 0.00001
NM_000075.4(CDK4):c.660C>T (p.Ala220=) rs773490152 0.00001
NM_000075.4(CDK4):c.689T>C (p.Ile230Thr) rs760435132 0.00001
NM_000075.4(CDK4):c.841C>T (p.His281Tyr) rs876659522 0.00001
NM_000077.5(CDKN2A):c.151-66A>G rs890179220 0.00001
NM_000077.5(CDKN2A):c.259C>T (p.Arg87Trp) rs749714198 0.00001
NM_000077.5(CDKN2A):c.315C>A (p.Asp105Glu) rs763269347 0.00001
NM_000077.5(CDKN2A):c.32C>T (p.Pro11Leu) rs1374664673 0.00001
NM_000077.5(CDKN2A):c.333C>T (p.Gly111=) rs1490202463 0.00001
NM_000077.5(CDKN2A):c.458-525G>T rs1448745459 0.00001
NM_000079.4(CHRNA1):c.436_437insTG (p.Ser146fs) rs1683926600 0.00001
NM_000083.3(CLCN1):c.1478C>A (p.Ala493Glu) rs770900468 0.00001
NM_000088.4(COL1A1):c.1875+3G>T rs138164489 0.00001
NM_000092.5(COL4A4):c.735G>A (p.Pro245=) rs923865420 0.00001
NM_000094.4(COL7A1):c.6130C>T (p.Leu2044Phe) rs756037004 0.00001
NM_000094.4(COL7A1):c.8107C>T (p.Arg2703Trp) rs759039839 0.00001
NM_000122.2(ERCC3):c.1933C>T (p.Arg645Ter) rs1404157087 0.00001
NM_000122.2(ERCC3):c.2263G>A (p.Asp755Asn) rs115312738 0.00001
NM_000132.4(F8):c.1834C>T (p.Arg612Cys) rs137852428 0.00001
NM_000132.4(F8):c.3986G>A (p.Arg1329His) rs782767347 0.00001
NM_000132.4(F8):c.5012G>A (p.Arg1671His) rs782166477 0.00001
NM_000132.4(F8):c.5976G>A (p.Met1992Ile) rs782510443 0.00001
NM_000132.4(F8):c.6304G>A (p.Gly2102Ser) rs200433372 0.00001
NM_000132.4(F8):c.6623A>G (p.Gln2208Arg) rs782198570 0.00001
NM_000133.4(F9):c.109G>A (p.Ala37Thr) rs367569299 0.00001
NM_000133.4(F9):c.572G>A (p.Arg191His) rs137852238 0.00001
NM_000133.4(F9):c.890T>A (p.Ile297Asn) rs752084251 0.00001
NM_000135.4(FANCA):c.3366C>T (p.His1122=) rs771815968 0.00001
NM_000135.4(FANCA):c.695G>A (p.Arg232Lys) rs886052487 0.00001
NM_000136.3(FANCC):c.-87G>A rs1051113986 0.00001
NM_000136.3(FANCC):c.1069C>G (p.Gln357Glu) rs759900071 0.00001
NM_000136.3(FANCC):c.1155-29A>G rs759352163 0.00001
NM_000136.3(FANCC):c.1275C>G (p.Leu425=) rs767126985 0.00001
NM_000136.3(FANCC):c.1534-18C>T rs1289718209 0.00001
NM_000136.3(FANCC):c.166-5C>T rs753820400 0.00001
NM_000136.3(FANCC):c.166-9C>G rs372507085 0.00001
NM_000136.3(FANCC):c.668T>C (p.Val223Ala) rs751410815 0.00001
NM_000136.3(FANCC):c.839C>T (p.Ser280Leu) rs749230615 0.00001
NM_000136.3(FANCC):c.871T>C (p.Phe291Leu) rs769649289 0.00001
NM_000137.4(FAH):c.1213T>C (p.Phe405Leu) rs1341466471 0.00001
NM_000137.4(FAH):c.1214T>A (p.Phe405Tyr) rs1595899559 0.00001
NM_000138.5(FBN1):c.3184G>A (p.Asp1062Asn) rs758366498 0.00001
NM_000138.5(FBN1):c.3571G>A (p.Asp1191Asn) rs370121450 0.00001
NM_000138.5(FBN1):c.814A>C (p.Lys272Gln) rs762276905 0.00001
NM_000140.5(FECH):c.599-3C>T rs765069812 0.00001
NM_000141.5(FGFR2):c.755C>T (p.Ser252Leu) rs79184941 0.00001
NM_000142.5(FGFR3):c.514G>A (p.Val172Ile) rs529408918 0.00001
NM_000151.4(G6PC1):c.355C>T (p.His119Tyr) rs1332616844 0.00001
NM_000153.4(GALC):c.1174T>C (p.Ser392Pro) rs1200769534 0.00001
NM_000153.4(GALC):c.1630G>A (p.Asp544Asn) rs387906952 0.00001
NM_000153.4(GALC):c.916G>A (p.Ala306Thr) rs1349064845 0.00001
NM_000156.6(GAMT):c.467C>A (p.Ala156Asp) rs368221789 0.00001
NM_000157.4(GBA1):c.259C>T (p.Arg87Trp) rs1141814 0.00001
NM_000158.4(GBE1):c.1064G>A (p.Arg355His) rs869312919 0.00001
NM_000159.4(GCDH):c.416C>T (p.Ser139Leu) rs139851890 0.00001
NM_000166.6(GJB1):c.415G>A (p.Val139Met) rs104894812 0.00001
NM_000169.3(GLA):c.1153A>G (p.Thr385Ala) rs397515869 0.00001
NM_000170.3(GLDC):c.1117C>T (p.Arg373Trp) rs150171524 0.00001
NM_000170.3(GLDC):c.2441C>T (p.Ser814Phe) rs763075374 0.00001
NM_000170.3(GLDC):c.799C>G (p.Pro267Ala) rs1554648117 0.00001
NM_000171.4(GLRA1):c.1213C>T (p.Arg405Ter) rs375152105 0.00001
NM_000179.3(MSH6):c.1127A>G (p.Glu376Gly) rs764150912 0.00001
NM_000179.3(MSH6):c.1190A>G (p.Tyr397Cys) rs63750065 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.1623C>T (p.Ser541=) rs777678406 0.00001
NM_000179.3(MSH6):c.2107A>G (p.Met703Val) rs751867550 0.00001
NM_000179.3(MSH6):c.2400T>C (p.Val800=) rs267608071 0.00001
NM_000179.3(MSH6):c.2419G>A (p.Glu807Lys) rs587779923 0.00001
NM_000179.3(MSH6):c.2629G>A (p.Glu877Lys) rs730881797 0.00001
NM_000179.3(MSH6):c.2640_2641insAAA (p.Asp880_Gly881insLys) rs1252374906 0.00001
NM_000179.3(MSH6):c.2641G>A (p.Gly881Ser) rs998186339 0.00001
NM_000179.3(MSH6):c.2653A>G (p.Lys885Glu) rs587782593 0.00001
NM_000179.3(MSH6):c.2693C>G (p.Pro898Arg) rs876661281 0.00001
NM_000179.3(MSH6):c.2982C>T (p.Tyr994=) rs367758473 0.00001
NM_000179.3(MSH6):c.3300G>A (p.Thr1100=) rs540252208 0.00001
NM_000179.3(MSH6):c.3452C>G (p.Ala1151Gly) rs587782625 0.00001
NM_000179.3(MSH6):c.3598A>G (p.Ile1200Val) rs781627838 0.00001
NM_000179.3(MSH6):c.3841G>C (p.Glu1281Gln) rs876659115 0.00001
NM_000179.3(MSH6):c.3847A>G (p.Ile1283Val) rs144714869 0.00001
NM_000179.3(MSH6):c.3936T>C (p.Val1312=) rs61753796 0.00001
NM_000179.3(MSH6):c.4002-4T>C rs370428032 0.00001
NM_000179.3(MSH6):c.533G>A (p.Arg178His) rs786204186 0.00001
NM_000179.3(MSH6):c.998C>T (p.Thr333Ile) rs587781983 0.00001
NM_000180.4(GUCY2D):c.2563C>T (p.Gln855Ter) rs1555635778 0.00001
NM_000180.4(GUCY2D):c.2598G>C (p.Lys866Asn) rs201587670 0.00001
NM_000180.4(GUCY2D):c.2620G>A (p.Glu874Lys) rs1001538483 0.00001
NM_000184.3(HBG2):c.62T>C (p.Val21Ala) rs63751196 0.00001
NM_000191.3(HMGCL):c.392C>T (p.Ser131Leu) rs1570650181 0.00001
NM_000203.5(IDUA):c.245A>C (p.His82Pro) rs794727239 0.00001
NM_000203.5(IDUA):c.53T>C (p.Leu18Pro) rs794726878 0.00001
NM_000208.4(INSR):c.2572A>G (p.Thr858Ala) rs182552223 0.00001
NM_000214.3(JAG1):c.203G>C (p.Arg68Pro) rs892275570 0.00001
NM_000215.4(JAK3):c.1208G>A (p.Arg403His) rs1599876167 0.00001
NM_000215.4(JAK3):c.1645C>T (p.Arg549Ter) rs1011307501 0.00001
NM_000218.3(KCNQ1):c.1032G>A (p.Ala344=) rs1800171 0.00001
NM_000218.3(KCNQ1):c.1556G>A (p.Arg519His) rs199472788 0.00001
NM_000222.3(KIT):c.2848G>A (p.Val950Met) rs146374006 0.00001
NM_000237.3(LPL):c.685C>G (p.His229Asp) rs769439327 0.00001
NM_000237.3(LPL):c.701C>T (p.Pro234Leu) rs118204060 0.00001
NM_000238.4(KCNH2):c.3095G>A (p.Arg1032Gln) rs199473020 0.00001
NM_000243.3(MEFV):c.1420G>A (p.Glu474Lys) rs104895104 0.00001
NM_000243.3(MEFV):c.1508C>G (p.Ser503Cys) rs190705322 0.00001
NM_000243.3(MEFV):c.1744A>C (p.Met582Leu) rs104895165 0.00001
NM_000243.3(MEFV):c.1784C>T (p.Ala595Val) rs104895191 0.00001
NM_000243.3(MEFV):c.1894G>A (p.Gly632Ser) rs104895128 0.00001
NM_000243.3(MEFV):c.2160C>G (p.Ile720Met) rs104895102 0.00001
NM_000243.3(MEFV):c.2314A>G (p.Ile772Val) rs104895163 0.00001
NM_000243.3(MEFV):c.2338C>A (p.Pro780Thr) rs104895154 0.00001
NM_000243.3(MEFV):c.422G>T (p.Ser141Ile) rs104895130 0.00001
NM_000243.3(MEFV):c.530C>T (p.Thr177Ile) rs104895143 0.00001
NM_000243.3(MEFV):c.589G>C (p.Gly197Arg) rs765450054 0.00001
NM_000243.3(MEFV):c.688G>A (p.Glu230Lys) rs104895080 0.00001
NM_000243.3(MEFV):c.848C>T (p.Pro283Leu) rs104895119 0.00001
NM_000243.3(MEFV):c.863C>A (p.Ser288Tyr) rs387907567 0.00001
NM_000245.4(MET):c.1171G>A (p.Gly391Arg) rs587778443 0.00001
NM_000245.4(MET):c.1238G>A (p.Arg413His) rs375391602 0.00001
NM_000245.4(MET):c.1306G>A (p.Glu436Lys) rs200740468 0.00001
NM_000245.4(MET):c.1444G>A (p.Asp482Asn) rs863224694 0.00001
NM_000245.4(MET):c.1451A>G (p.His484Arg) rs781545528 0.00001
NM_000245.4(MET):c.1904A>G (p.Asn635Ser) rs773826297 0.00001
NM_000245.4(MET):c.2102+7T>C rs1584941903 0.00001
NM_000245.4(MET):c.215T>C (p.Val72Ala) rs973796037 0.00001
NM_000245.4(MET):c.2192G>A (p.Arg731Gln) rs45446492 0.00001
NM_000245.4(MET):c.2716G>A (p.Glu906Lys) rs778115147 0.00001
NM_000245.4(MET):c.305G>A (p.Ser102Asn) rs779897466 0.00001
NM_000245.4(MET):c.3274G>A (p.Val1092Ile) rs786202724 0.00001
NM_000245.4(MET):c.362T>C (p.Val121Ala) rs879254339 0.00001
NM_000245.4(MET):c.3878C>G (p.Thr1293Ser) rs779121848 0.00001
NM_000246.4(CIITA):c.170C>A (p.Ala57Asp) rs1555500356 0.00001
NM_000249.4(MLH1):c.1043T>C (p.Leu348Ser) rs755401753 0.00001
NM_000249.4(MLH1):c.1216A>G (p.Ser406Gly) rs864622687 0.00001
NM_000249.4(MLH1):c.1344G>T (p.Glu448Asp) rs587779952 0.00001
NM_000249.4(MLH1):c.1421G>A (p.Arg474Gln) rs63751083 0.00001
NM_000249.4(MLH1):c.1541A>G (p.Asn514Ser) rs772245091 0.00001
NM_000249.4(MLH1):c.1682A>G (p.Tyr561Cys) rs1289807424 0.00001
NM_000249.4(MLH1):c.1876T>C (p.Phe626Leu) rs377241633 0.00001
NM_000249.4(MLH1):c.1896+7C>T rs863224339 0.00001
NM_000249.4(MLH1):c.1990-6G>A rs117221851 0.00001
NM_000249.4(MLH1):c.2104-22T>G rs267607890 0.00001
NM_000249.4(MLH1):c.2107G>A (p.Glu703Lys) rs747727493 0.00001
NM_000249.4(MLH1):c.351G>A (p.Thr117=) rs61751643 0.00001
NM_000249.4(MLH1):c.5C>T (p.Ser2Leu) rs587779029 0.00001
NM_000249.4(MLH1):c.652T>C (p.Ser218Pro) rs750650349 0.00001
NM_000249.4(MLH1):c.743A>G (p.Asn248Ser) rs587782800 0.00001
NM_000249.4(MLH1):c.845C>G (p.Ala282Gly) rs63750360 0.00001
NM_000249.4(MLH1):c.885-5G>T rs267607802 0.00001
NM_000251.3(MSH2):c.1130A>G (p.Gln377Arg) rs776174711 0.00001
NM_000251.3(MSH2):c.1462T>G (p.Leu488Val) rs587781314 0.00001
NM_000251.3(MSH2):c.1489A>G (p.Ile497Val) rs755501968 0.00001
NM_000251.3(MSH2):c.1571G>A (p.Arg524His) rs63751207 0.00001
NM_000251.3(MSH2):c.1967A>G (p.Tyr656Cys) rs185356145 0.00001
NM_000251.3(MSH2):c.2039G>A (p.Arg680Gln) rs1203462814 0.00001
NM_000251.3(MSH2):c.2064G>A (p.Met688Ile) rs63750790 0.00001
NM_000251.3(MSH2):c.2110A>G (p.Ile704Val) rs730881764 0.00001
NM_000251.3(MSH2):c.2111T>C (p.Ile704Thr) rs564657106 0.00001
NM_000251.3(MSH2):c.2131C>T (p.Arg711Ter) rs63750636 0.00001
NM_000251.3(MSH2):c.2437A>G (p.Met813Val) rs63749841 0.00001
NM_000251.3(MSH2):c.2606C>A (p.Ala869Glu) rs730881772 0.00001
NM_000251.3(MSH2):c.274C>G (p.Leu92Val) rs587779154 0.00001
NM_000251.3(MSH2):c.386C>G (p.Ser129Cys) rs587779972 0.00001
NM_000251.3(MSH2):c.459C>T (p.Ser153=) rs63751065 0.00001
NM_000251.3(MSH2):c.716A>G (p.Gln239Arg) rs199676483 0.00001
NM_000251.3(MSH2):c.992A>G (p.Asn331Ser) rs779673318 0.00001
NM_000256.3(MYBPC3):c.1147C>G (p.Leu383Val) rs11570077 0.00001
NM_000256.3(MYBPC3):c.1227-13G>A rs397515893 0.00001
NM_000256.3(MYBPC3):c.1363C>T (p.Leu455Phe) rs747686377 0.00001
NM_000256.3(MYBPC3):c.3763G>A (p.Ala1255Thr) rs727503167 0.00001
NM_000256.3(MYBPC3):c.817C>T (p.Arg273Cys) rs551119259 0.00001
NM_000257.4(MYH7):c.1447G>A (p.Glu483Lys) rs121913651 0.00001
NM_000257.4(MYH7):c.3152C>T (p.Ala1051Val) rs727504358 0.00001
NM_000260.4(MYO7A):c.1708C>T (p.Arg570Ter) rs1591310948 0.00001
NM_000260.4(MYO7A):c.4360G>A (p.Val1454Ile) rs397516309 0.00001
NM_000260.4(MYO7A):c.6026C>A (p.Ala2009Asp) rs1173853484 0.00001
NM_000261.2(MYOC):c.473G>A (p.Arg158Gln) rs199746824 0.00001
NM_000261.2(MYOC):c.767C>T (p.Thr256Met) rs200072086 0.00001
NM_000263.4(NAGLU):c.700C>T (p.Arg234Cys) rs104894601 0.00001
NM_000263.4(NAGLU):c.934G>A (p.Asp312Asn) rs1052471595 0.00001
NM_000268.4(NF2):c.1445C>T (p.Pro482Leu) rs766339217 0.00001
NM_000268.4(NF2):c.952G>A (p.Val318Ile) rs996057882 0.00001
NM_000271.5(NPC1):c.2292G>A (p.Ala764=) rs772565983 0.00001
NM_000271.5(NPC1):c.2972del (p.Gln991fs) rs1567948623 0.00001
NM_000271.5(NPC1):c.3394G>A (p.Ala1132Thr) rs1046046139 0.00001
NM_000282.4(PCCA):c.1118T>A (p.Met373Lys) rs121964958 0.00001
NM_000284.4(PDHA1):c.292-27T>G rs1389638523 0.00001
NM_000287.4(PEX6):c.510_511del (p.Asp172fs) rs61753211 0.00001
NM_000292.3(PHKA2):c.1499G>A (p.Arg500Gln) rs753412659 0.00001
NM_000294.3(PHKG2):c.22G>T (p.Glu8Ter) rs375063162 0.00001
NM_000294.3(PHKG2):c.835C>T (p.Arg279Cys) rs994896967 0.00001
NM_000295.5(SERPINA1):c.880G>A (p.Asp294Asn) rs772436715 0.00001
NM_000297.4(PKD2):c.965G>A (p.Arg322Gln) rs145877597 0.00001
NM_000298.6(PKLR):c.1178A>G (p.Asn393Ser) rs776594413 0.00001
NM_000303.3(PMM2):c.193G>T (p.Asp65Tyr) rs104894527 0.00001
NM_000303.3(PMM2):c.97C>T (p.Gln33Ter) rs149530060 0.00001
NM_000311.5(PRNP):c.290G>A (p.Ser97Asn) rs56362942 0.00001
NM_000311.5(PRNP):c.414C>G (p.Ile138Met) rs977801755 0.00001
NM_000314.8(PTEN):c.492+31T>C rs1320105617 0.00001
NM_000314.8(PTEN):c.613A>G (p.Met205Val) rs776763121 0.00001
NM_000314.8(PTEN):c.78C>T (p.Thr26=) rs786201280 0.00001
NM_000314.8(PTEN):c.901G>A (p.Asp301Asn) rs758644748 0.00001
NM_000320.3(QDPR):c.661C>T (p.Arg221Ter) rs779997983 0.00001
NM_000321.3(RB1):c.2393G>A (p.Arg798Gln) rs374523971 0.00001
NM_000321.3(RB1):c.784C>T (p.Arg262Trp) rs556201144 0.00001
NM_000322.5(PRPH2):c.136C>T (p.Arg46Ter) rs61755771 0.00001
NM_000329.3(RPE65):c.1022T>C (p.Leu341Ser) rs61752909 0.00001
NM_000329.3(RPE65):c.560G>A (p.Gly187Glu) rs752058510 0.00001
NM_000330.4(RS1):c.185-3176C>T rs747799506 0.00001
NM_000335.5(SCN5A):c.1604G>A (p.Arg535Gln) rs199473121 0.00001
NM_000335.5(SCN5A):c.2236G>A (p.Glu746Lys) rs199473582 0.00001
NM_000335.5(SCN5A):c.2497G>A (p.Gly833Arg) rs45475899 0.00001
NM_000335.5(SCN5A):c.2893C>T (p.Arg965Cys) rs199473180 0.00001
NM_000335.5(SCN5A):c.4882C>T (p.Arg1628Ter) rs199473284 0.00001
NM_000335.5(SCN5A):c.674G>A (p.Arg225Gln) rs199473071 0.00001
NM_000338.3(SLC12A1):c.1103A>G (p.Glu368Gly) rs1567314296 0.00001
NM_000343.4(SLC5A1):c.1007G>A (p.Arg336His) rs774651252 0.00001
NM_000343.4(SLC5A1):c.799C>T (p.Arg267Ter) rs779502629 0.00001
NM_000350.3(ABCA4):c.1364T>A (p.Leu455Gln) rs1366296798 0.00001
NM_000350.3(ABCA4):c.32T>C (p.Leu11Pro) rs62645946 0.00001
NM_000350.3(ABCA4):c.4926C>G (p.Ser1642Arg) rs61753017 0.00001
NM_000350.3(ABCA4):c.6088C>T (p.Arg2030Ter) rs61751383 0.00001
NM_000352.6(ABCC8):c.1337T>C (p.Ile446Thr) rs765529676 0.00001
NM_000352.6(ABCC8):c.602C>T (p.Pro201Leu) rs933815442 0.00001
NM_000368.5(TSC1):c.1250C>T (p.Thr417Ile) rs77464996 0.00001
NM_000368.5(TSC1):c.2281T>C (p.Tyr761His) rs776386313 0.00001
NM_000374.5(UROD):c.425G>A (p.Arg142Gln) rs1182234844 0.00001
NM_000374.5(UROD):c.616C>T (p.Gln206Ter) rs771824413 0.00001
NM_000384.3(APOB):c.10679A>G (p.Tyr3560Cys) rs745721296 0.00001
NM_000388.4(CASR):c.206G>A (p.Arg69His) rs193922432 0.00001
NM_000388.4(CASR):c.2767C>G (p.Pro923Ala) rs201517907 0.00001
NM_000388.4(CASR):c.2915C>T (p.Thr972Met) rs200620134 0.00001
NM_000391.4(TPP1):c.887-10A>G rs755445790 0.00001
NM_000393.5(COL5A2):c.1579C>T (p.Arg527Cys) rs863223490 0.00001
NM_000402.4(G6PD):c.233T>C (p.Ile78Thr) rs76645461 0.00001
NM_000410.4(HFE):c.76+2T>C rs776994377 0.00001
NM_000416.3(IFNGR1):c.260T>C (p.Ile87Thr) rs104893973 0.00001
NM_000423.3(KRT2):c.1630C>T (p.Arg544Ter) rs571471637 0.00001
NM_000426.4(LAMA2):c.5234+1G>A rs781376927 0.00001
NM_000426.4(LAMA2):c.8244+1G>A rs749522728 0.00001
NM_000430.4(PAFAH1B1):c.818G>A (p.Arg273Gln) rs794729199 0.00001
NM_000432.4(MYL2):c.257T>C (p.Phe86Ser) rs730880950 0.00001
NM_000435.3(NOTCH3):c.1594C>T (p.Arg532Cys) rs1202763005 0.00001
NM_000435.3(NOTCH3):c.6242G>T (p.Gly2081Val) rs141231747 0.00001
NM_000440.3(PDE6A):c.1749C>G (p.Tyr583Ter) rs121918576 0.00001
NM_000440.3(PDE6A):c.1957C>T (p.Arg653Ter) rs753942596 0.00001
NM_000441.2(SLC26A4):c.1124A>G (p.Tyr375Cys) rs148425972 0.00001
NM_000443.4(ABCB4):c.1714C>T (p.Gln572Ter) rs1458423947 0.00001
NM_000443.4(ABCB4):c.1744C>T (p.Arg582Trp) rs1444056772 0.00001
NM_000443.4(ABCB4):c.1745G>A (p.Arg582Gln) rs760153272 0.00001
NM_000443.4(ABCB4):c.431G>A (p.Arg144Gln) rs863225299 0.00001
NM_000443.4(ABCB4):c.475C>T (p.Arg159Ter) rs377160065 0.00001
NM_000448.3(RAG1):c.424C>T (p.Arg142Ter) rs773929270 0.00001
NM_000451.4(SHOX):c.106C>T (p.Arg36Trp) rs757408441 0.00001
NM_000451.4(SHOX):c.199C>T (p.Pro67Ser) rs200663078 0.00001
NM_000451.4(SHOX):c.200C>G (p.Pro67Arg) rs765679079 0.00001
NM_000451.4(SHOX):c.278G>C (p.Gly93Ala) rs746224384 0.00001
NM_000451.4(SHOX):c.335A>C (p.Gln112Pro) rs757391565 0.00001
NM_000451.4(SHOX):c.346A>G (p.Lys116Glu) rs1451917593 0.00001
NM_000451.4(SHOX):c.414G>C (p.Glu138Asp) rs750602920 0.00001
NM_000451.4(SHOX):c.583C>T (p.Arg195Ter) rs137852552 0.00001
NM_000451.4(SHOX):c.584G>A (p.Arg195Gln) rs188370909 0.00001
NM_000451.4(SHOX):c.606G>A (p.Met202Ile) rs1461126707 0.00001
NM_000451.4(SHOX):c.634-3C>T rs1274848134 0.00001
NM_000451.4(SHOX):c.70G>A (p.Gly24Arg) rs761008675 0.00001
NM_000451.4(SHOX):c.839G>C (p.Arg280Pro) rs1476996812 0.00001
NM_000455.5(STK11):c.-4C>T rs1181075160 0.00001
NM_000455.5(STK11):c.1148G>A (p.Arg383His) rs730881990 0.00001
NM_000455.5(STK11):c.1163A>G (p.Lys388Arg) rs756877141 0.00001
NM_000455.5(STK11):c.375-33C>T rs1246317136 0.00001
NM_000455.5(STK11):c.465-3C>T rs587781619 0.00001
NM_000455.5(STK11):c.559G>A (p.Gly187Ser) rs587782032 0.00001
NM_000455.5(STK11):c.877G>A (p.Glu293Lys) rs398123405 0.00001
NM_000455.5(STK11):c.921-9C>T rs761688641 0.00001
NM_000463.3(UGT1A1):c.923G>A (p.Gly308Glu) rs62625011 0.00001
NM_000465.4(BARD1):c.1109G>A (p.Arg370His) rs730881416 0.00001
NM_000465.4(BARD1):c.1543T>C (p.Ser515Pro) rs876659146 0.00001
NM_000465.4(BARD1):c.1594G>A (p.Asp532Asn) rs757281184 0.00001
NM_000465.4(BARD1):c.1802A>G (p.Asp601Gly) rs767765131 0.00001
NM_000465.4(BARD1):c.1818T>C (p.His606=) rs199590147 0.00001
NM_000465.4(BARD1):c.2054A>G (p.His685Arg) rs368488821 0.00001
NM_000465.4(BARD1):c.2057A>G (p.His686Arg) rs864622380 0.00001
NM_000465.4(BARD1):c.2155A>G (p.Thr719Ala) rs771852699 0.00001
NM_000465.4(BARD1):c.490C>G (p.Gln164Glu) rs750350372 0.00001
NM_000465.4(BARD1):c.976A>G (p.Asn326Asp) rs587780038 0.00001
NM_000465.4(BARD1):c.986C>G (p.Ser329Cys) rs905626929 0.00001
NM_000483.5(APOC2):c.274C>T (p.Gln92Ter) rs199563828 0.00001
NM_000487.6(ARSA):c.1150G>A (p.Glu384Lys) rs74315479 0.00001
NM_000492.4(CFTR):c.1039C>T (p.Arg347Cys) rs397508147 0.00001
NM_000492.4(CFTR):c.1499G>A (p.Gly500Asp) rs774945680 0.00001
NM_000492.4(CFTR):c.1614T>A (p.Asn538Lys) rs1196851290 0.00001
NM_000492.4(CFTR):c.1647T>G (p.Ser549Arg) rs121909005 0.00001
NM_000492.4(CFTR):c.1680-1G>A rs121908794 0.00001
NM_000492.4(CFTR):c.1753G>T (p.Glu585Ter) rs397508296 0.00001
NM_000492.4(CFTR):c.1766+3A>G rs397508298 0.00001
NM_000492.4(CFTR):c.2125C>T (p.Arg709Ter) rs121908760 0.00001
NM_000492.4(CFTR):c.2252G>A (p.Arg751His) rs397508357 0.00001
NM_000492.4(CFTR):c.2290C>T (p.Arg764Ter) rs121908810 0.00001
NM_000492.4(CFTR):c.2554dup (p.Tyr852fs) rs1057517068 0.00001
NM_000492.4(CFTR):c.2846A>T (p.His949Leu) rs397508444 0.00001
NM_000492.4(CFTR):c.292C>T (p.Gln98Ter) rs397508461 0.00001
NM_000492.4(CFTR):c.2930C>T (p.Ser977Phe) rs141033578 0.00001
NM_000492.4(CFTR):c.3197G>A (p.Arg1066His) rs121909019 0.00001
NM_000492.4(CFTR):c.3230T>C (p.Leu1077Pro) rs139304906 0.00001
NM_000492.4(CFTR):c.325T>C (p.Tyr109His) rs397508522 0.00001
NM_000492.4(CFTR):c.3607A>G (p.Ile1203Val) rs75647395 0.00001
NM_000492.4(CFTR):c.3659del (p.Thr1220fs) rs121908811 0.00001
NM_000492.4(CFTR):c.3717G>A (p.Arg1239=) rs144781064 0.00001
NM_000492.4(CFTR):c.3731G>A (p.Gly1244Glu) rs267606723 0.00001
NM_000492.4(CFTR):c.3737C>T (p.Thr1246Ile) rs397508600 0.00001
NM_000492.4(CFTR):c.3746G>A (p.Gly1249Glu) rs121909040 0.00001
NM_000492.4(CFTR):c.3752G>A (p.Ser1251Asn) rs74503330 0.00001
NM_000492.4(CFTR):c.3771T>G (p.Phe1257Leu) rs397508607 0.00001
NM_000492.4(CFTR):c.410T>C (p.Leu137Pro) rs397508674 0.00001
NM_000492.4(CFTR):c.4225G>A (p.Glu1409Lys) rs397508699 0.00001
NM_000492.4(CFTR):c.4242+1G>T rs372227120 0.00001
NM_000492.4(CFTR):c.579+5G>A rs78440224 0.00001
NM_000492.4(CFTR):c.613C>T (p.Pro205Ser) rs121908803 0.00001
NM_000492.4(CFTR):c.695T>A (p.Val232Asp) rs397508783 0.00001
NM_000492.4(CFTR):c.825C>G (p.Tyr275Ter) rs193922532 0.00001
NM_000492.4(CFTR):c.941G>A (p.Gly314Glu) rs75763344 0.00001
NM_000492.4(CFTR):c.960A>T (p.Leu320Phe) rs56093012 0.00001
NM_000492.4(CFTR):c.992T>A (p.Ile331Asn) rs397508825 0.00001
NM_000497.4(CYP11B1):c.799G>A (p.Gly267Ser) rs1421641874 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_000520.6(HEXA):c.1510C>T (p.Arg504Cys) rs28942071 0.00001
NM_000525.4(KCNJ11):c.776A>G (p.His259Arg) rs104894248 0.00001
NM_000527.5(LDLR):c.1502C>T (p.Ala501Val) rs755667663 0.00001
NM_000527.5(LDLR):c.1608G>C (p.Trp536Cys) rs2077458389 0.00001
NM_000527.5(LDLR):c.313+2T>C rs793888517 0.00001
NM_000531.6(OTC):c.493G>C (p.Asp165His) rs72556275 0.00001
NM_000532.5(PCCB):c.502G>A (p.Glu168Lys) rs121964960 0.00001
NM_000535.7(PMS2):c.1047G>A (p.Lys349=) rs1422380612 0.00001
NM_000535.7(PMS2):c.1352G>A (p.Arg451Lys) rs876660834 0.00001
NM_000535.7(PMS2):c.2062A>G (p.Ile688Val) rs1060503144 0.00001
NM_000535.7(PMS2):c.2405G>A (p.Arg802Gln) rs1060503143 0.00001
NM_000535.7(PMS2):c.451C>T (p.Arg151Cys) rs758561884 0.00001
NM_000535.7(PMS2):c.713G>A (p.Ser238Asn) rs1060503111 0.00001
NM_000535.7(PMS2):c.750C>T (p.Ser250=) rs200439295 0.00001
NM_000535.7(PMS2):c.825A>T (p.Gln275His) rs876659736 0.00001
NM_000535.7(PMS2):c.881G>A (p.Arg294Gln) rs373239341 0.00001
NM_000535.7(PMS2):c.89A>G (p.Gln30Arg) rs56203955 0.00001
NM_000535.7(PMS2):c.983A>G (p.Asp328Gly) rs587782852 0.00001
NM_000539.3(RHO):c.551A>G (p.Gln184Arg) rs1402468701 0.00001
NM_000540.3(RYR1):c.14545G>A (p.Val4849Ile) rs118192168 0.00001
NM_000540.3(RYR1):c.2602C>T (p.Arg868Cys) rs138020885 0.00001
NM_000543.5(SMPD1):c.1730A>G (p.His577Arg) rs1554935669 0.00001
NM_000545.8(HNF1A):c.1513C>A (p.His505Asn) rs577078110 0.00001
NM_000546.6(TP53):c.1010G>A (p.Arg337His) rs121912664 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_000546.6(TP53):c.354A>T (p.Thr118=) rs751978853 0.00001
NM_000546.6(TP53):c.542G>A (p.Arg181His) rs397514495 0.00001
NM_000546.6(TP53):c.659A>G (p.Tyr220Cys) rs121912666 0.00001
NM_000546.6(TP53):c.725G>A (p.Cys242Tyr) rs121912655 0.00001
NM_000546.6(TP53):c.733G>A (p.Gly245Ser) rs28934575 0.00001
NM_000546.6(TP53):c.783-34C>T rs376988747 0.00001
NM_000546.6(TP53):c.844C>T (p.Arg282Trp) rs28934574 0.00001
NM_000546.6(TP53):c.885T>C (p.Pro295=) rs200073907 0.00001
NM_000548.5(TSC2):c.1689C>T (p.Ala563=) rs779858018 0.00001
NM_000551.4(VHL):c.235C>T (p.Arg79Cys) rs200885420 0.00001
NM_000551.4(VHL):c.538A>G (p.Ile180Val) rs377715747 0.00001
NM_000553.6(WRN):c.1351-1G>A rs1170732591 0.00001
NM_000553.6(WRN):c.58A>G (p.Asn20Asp) rs1233624462 0.00001
NM_000685.5(AGTR1):c.419G>A (p.Arg140His) rs570056677 0.00001
NM_000702.4(ATP1A2):c.1148G>A (p.Arg383His) rs765909830 0.00001
NM_000751.3(CHRND):c.1007G>A (p.Arg336Gln) rs375623674 0.00001
NM_000781.3(CYP11A1):c.694C>T (p.Arg232Ter) rs755186597 0.00001
NM_000784.4(CYP27A1):c.1181T>C (p.Leu394Pro) rs1406298698 0.00001
NM_000785.4(CYP27B1):c.1357C>T (p.Arg453Cys) rs767480544 0.00001
NM_000967.4(RPL3):c.353T>A (p.Phe118Tyr) rs771273075 0.00001
NM_001003800.2(BICD2):c.1864C>T (p.Arg622Trp) rs1445290655 0.00001
NM_001005242.3(PKP2):c.1772G>A (p.Arg591Gln) rs755076586 0.00001
NM_001005361.3(DNM2):c.1105C>T (p.Arg369Trp) rs121909090 0.00001
NM_001005498.4(RHBDF2):c.1116-7T>C rs920432024 0.00001
NM_001008216.2(GALE):c.284G>A (p.Gly95Asp) rs1243531358 0.00001
NM_001009944.3(PKD1):c.5014_5015del (p.Arg1672fs) rs1555455457 0.00001
NM_001009944.3(PKD1):c.8311G>A (p.Glu2771Lys) rs1057518897 0.00001
NM_001015880.2(PAPSS2):c.386G>A (p.Arg129His) rs760085327 0.00001
NM_001018115.3(FANCD2):c.3706C>T (p.Arg1236Cys) rs771078251 0.00001
NM_001018115.3(FANCD2):c.3777+1G>T rs1434069831 0.00001
NM_001023570.4(IQCB1):c.1465C>T (p.Arg489Ter) rs373909351 0.00001
NM_001032386.2(SUOX):c.1126C>T (p.Arg376Cys) rs781081194 0.00001
NM_001032386.2(SUOX):c.1534G>T (p.Asp512Tyr) rs770792767 0.00001
NM_001039.4(SCNN1G):c.576T>A (p.Asn192Lys) rs1001641230 0.00001
NM_001040142.2(SCN2A):c.3461G>A (p.Gly1154Glu) rs995379212 0.00001
NM_001040142.2(SCN2A):c.982T>G (p.Phe328Val) rs781204054 0.00001
NM_001042492.3(NF1):c.1466A>G (p.Tyr489Cys) rs137854557 0.00001
NM_001042492.3(NF1):c.1891G>A (p.Gly631Arg) rs757424379 0.00001
NM_001042492.3(NF1):c.2248A>G (p.Thr750Ala) rs748064845 0.00001
NM_001042492.3(NF1):c.2659G>A (p.Ala887Thr) rs1251621684 0.00001
NM_001042492.3(NF1):c.3989A>C (p.Glu1330Ala) rs1256727206 0.00001
NM_001042492.3(NF1):c.4655A>G (p.Lys1552Arg) rs1172780277 0.00001
NM_001042492.3(NF1):c.4682G>A (p.Ser1561Asn) rs751414513 0.00001
NM_001042492.3(NF1):c.4813A>G (p.Ile1605Val) rs199474766 0.00001
NM_001042492.3(NF1):c.5160G>T (p.Glu1720Asp) rs773378630 0.00001
NM_001042492.3(NF1):c.6642+42T>C rs760581466 0.00001
NM_001042492.3(NF1):c.6773G>A (p.Arg2258Gln) rs786202030 0.00001
NM_001042492.3(NF1):c.7091G>A (p.Arg2364Gln) rs1555535407 0.00001
NM_001042492.3(NF1):c.7213A>G (p.Ile2405Val) rs565708398 0.00001
NM_001042492.3(NF1):c.7513G>A (p.Ala2505Thr) rs786202955 0.00001
NM_001042492.3(NF1):c.8324A>G (p.Asn2775Ser) rs772090874 0.00001
NM_001042517.2(DIAPH3):c.3265C>T (p.Arg1089Trp) rs1156923369 0.00001
NM_001048174.2(MUTYH):c.1057G>T (p.Gly353Trp) rs587778539 0.00001
NM_001048174.2(MUTYH):c.1087C>T (p.Gln363Ter) rs587783057 0.00001
NM_001048174.2(MUTYH):c.1102+42_1102+43del rs775033999 0.00001
NM_001048174.2(MUTYH):c.1227G>A (p.Arg409=) rs199575659 0.00001
NM_001048174.2(MUTYH):c.1533T>C (p.Thr511=) rs756708148 0.00001
NM_001048174.2(MUTYH):c.167A>G (p.Tyr56Cys) rs200747973 0.00001
NM_001048174.2(MUTYH):c.259A>G (p.Arg87Gly) rs950856923 0.00001
NM_001048174.2(MUTYH):c.264+10C>T rs369242529 0.00001
NM_001048174.2(MUTYH):c.493-5A>G rs758377868 0.00001
NM_001048174.2(MUTYH):c.565C>T (p.Arg189Cys) rs537292657 0.00001
NM_001048174.2(MUTYH):c.887C>T (p.Ser296Leu) rs558173961 0.00001
NM_001048174.2(MUTYH):c.903G>C (p.Val301=) rs749048388 0.00001
NM_001048174.2(MUTYH):c.914-50C>T rs1644954335 0.00001
NM_001048174.2(MUTYH):c.986A>G (p.Asn329Ser) rs754178539 0.00001
NM_001061.7(TBXAS1):c.1235G>A (p.Arg412Gln) rs199422117 0.00001
NM_001065.4(TNFRSF1A):c.370G>A (p.Val124Met) rs104895278 0.00001
NM_001065.4(TNFRSF1A):c.677C>G (p.Ser226Cys) rs775002776 0.00001
NM_001077365.2(POMT1):c.986+1G>A rs961071228 0.00001
NM_001077415.3(CRELD1):c.857C>G (p.Pro286Arg) rs1408230289 0.00001
NM_001077418.3(TMEM231):c.244G>T (p.Ala82Ser) rs541195377 0.00001
NM_001079866.2(BCS1L):c.142A>G (p.Met48Val) rs755305281 0.00001
NM_001080467.3(MYO5B):c.2003+2T>A rs727505394 0.00001
NM_001080467.3(MYO5B):c.617T>C (p.Ile206Thr) rs1166138315 0.00001
NM_001080467.3(MYO5B):c.656G>A (p.Arg219His) rs1053713532 0.00001
NM_001082971.2(DDC):c.361T>C (p.Trp121Arg) rs371117662 0.00001
NM_001082971.2(DDC):c.923A>T (p.Asn308Ile) rs375716771 0.00001
NM_001083116.3(PRF1):c.1097A>G (p.Gln366Arg) rs957245579 0.00001
NM_001083116.3(PRF1):c.659G>A (p.Gly220Asp) rs202217604 0.00001
NM_001084.5(PLOD3):c.2061+1G>A rs1798091848 0.00001
NM_001089.3(ABCA3):c.3863-98C>T rs189077405 0.00001
NM_001098.3(ACO2):c.1390G>T (p.Glu464Ter) rs1601927180 0.00001
NM_001110556.2(FLNA):c.5515C>G (p.Leu1839Val) rs1479378222 0.00001
NM_001122659.3(EDNRB):c.928G>A (p.Ala310Thr) rs944500117 0.00001
NM_001122769.3(LCA5):c.955G>A (p.Ala319Thr) rs1178243254 0.00001
NM_001122955.4(BSCL2):c.517dup (p.Thr173fs) rs786205071 0.00001
NM_001122955.4(BSCL2):c.604C>T (p.Arg202Ter) rs137852970 0.00001
NM_001122955.4(BSCL2):c.985C>T (p.Arg329Ter) rs587777606 0.00001
NM_001126049.2(KLLN):c.316C>A (p.Pro106Thr) rs1244675683 0.00001
NM_001127511.3(APC):c.30C>A (p.Val10=) rs917976853 0.00001
NM_001127898.4(CLCN5):c.2168G>C (p.Gly723Ala) rs782297848 0.00001
NM_001130438.3(SPTAN1):c.1502G>A (p.Ser501Asn) rs1347944186 0.00001
NM_001130438.3(SPTAN1):c.5433C>G (p.His1811Gln) rs772382171 0.00001
NM_001130438.3(SPTAN1):c.6764G>A (p.Arg2255His) rs201693154 0.00001
NM_001134407.3(GRIN2A):c.869C>T (p.Ala290Val) rs199528312 0.00001
NM_001135146.2(SLC39A8):c.965T>C (p.Ile322Thr) rs755786784 0.00001
NM_001142800.2(EYS):c.4651G>T (p.Glu1551Ter) rs1305702728 0.00001
NM_001142800.2(EYS):c.5857G>T (p.Glu1953Ter) rs137853189 0.00001
NM_001142800.2(EYS):c.8545C>T (p.Arg2849Ter) rs1326635278 0.00001
NM_001142800.2(EYS):c.8779T>C (p.Cys2927Arg) rs373203896 0.00001
NM_001142800.2(EYS):c.9059T>C (p.Ile3020Thr) rs948998853 0.00001
NM_001143854.2(RPH3A):c.763G>C (p.Gly255Arg) rs779991033 0.00001
NM_001160224.2(RNF170):c.490G>A (p.Gly164Arg) rs797045006 0.00001
NM_001160372.4(TRAPPC9):c.3279+1G>A rs1489634479 0.00001
NM_001162498.3(LPAR6):c.819C>A (p.Tyr273Ter) rs749894411 0.00001
NM_001163809.2(WDR81):c.1316A>G (p.His439Arg) rs770369142 0.00001
NM_001164277.2(SLC37A4):c.59G>A (p.Gly20Asp) rs193302881 0.00001
NM_001164508.2(NEB):c.24304_24305dup (p.Leu8102fs) rs1559207733 0.00001
NM_001165963.4(SCN1A):c.2576G>A (p.Arg859His) rs398123588 0.00001
NM_001165963.4(SCN1A):c.2686G>A (p.Val896Ile) rs745378416 0.00001
NM_001165963.4(SCN1A):c.4855A>G (p.Met1619Val) rs373967247 0.00001
NM_001171155.2(PET100):c.1A>G (p.Met1Val) rs977392512 0.00001
NM_001173523.2(PCDH7):c.1458C>A (p.Phe486Leu) rs748738921 0.00001
NM_001173523.2(PCDH7):c.408C>G (p.Ile136Met) rs925469298 0.00001
NM_001177316.2(SLC34A3):c.940G>A (p.Ala314Thr) rs1332288437 0.00001
NM_001182.5(ALDH7A1):c.1111C>T (p.Pro371Ser) rs1045606047 0.00001
NM_001184.4(ATR):c.6259A>G (p.Met2087Val) rs757353909 0.00001
NM_001190274.2(FBXO11):c.2699C>G (p.Thr900Arg) rs780870758 0.00001
NM_001205293.3(CACNA1E):c.1883+9C>G rs1488129029 0.00001
NM_001211.6(BUB1B):c.585A>G (p.Gln195=) rs1595518738 0.00001
NM_001231.5(CASQ1):c.925G>A (p.Asp309Asn) rs1046507393 0.00001
NM_001242957.3(MAK):c.814C>T (p.Arg272Ter) rs753314164 0.00001
NM_001244008.2(KIF1A):c.3278A>G (p.Asp1093Gly) rs748846590 0.00001
NM_001244710.2(GFPT1):c.41G>A (p.Arg14Gln) rs922548333 0.00001
NM_001256071.3(RNF213):c.12037G>A (p.Asp4013Asn) rs397514563 0.00001
NM_001256071.3(RNF213):c.12391C>T (p.Arg4131Cys) rs556513891 0.00001
NM_001271.4(CHD2):c.2308C>A (p.Pro770Thr) rs1064794433 0.00001
NM_001271.4(CHD2):c.826G>A (p.Ala276Thr) rs375521197 0.00001
NM_001276345.2(TNNT2):c.775G>A (p.Asp259Asn) rs141805127 0.00001
NM_001277313.2(FMN1):c.1969G>T (p.Gly657Ter) rs1374695621 0.00001
NM_001278716.2(FBXL4):c.419T>C (p.Val140Ala) rs1057519447 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_001298.3(CNGA3):c.1717T>C (p.Tyr573His) rs1330420689 0.00001
NM_001317778.2(SFTPC):c.334G>A (p.Ala112Thr) rs372529179 0.00001
NM_001321075.3(DLG4):c.1271G>A (p.Arg424Gln) rs780858708 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_001330195.2(NRXN3):c.3142+3A>G rs531047390 0.00001
NM_001346810.2(DLGAP2):c.511G>A (p.Asp171Asn) rs770007555 0.00001
NM_001348323.3(TRIP12):c.983A>C (p.Glu328Ala) rs986636922 0.00001
NM_001348768.2(HECW2):c.452G>A (p.Arg151Gln) rs752395684 0.00001
NM_001350162.2(TEX15):c.4292G>A (p.Gly1431Asp) rs1807590999 0.00001
NM_001352514.2(HLCS):c.2585A>C (p.Asp862Ala) rs752737867 0.00001
NM_001360.3(DHCR7):c.889A>C (p.Ile297Leu) rs1085307926 0.00001
NM_001360016.2(G6PD):c.1366G>A (p.Asp456Asn) rs782317415 0.00001
NM_001360016.2(G6PD):c.242G>A (p.Arg81His) rs782308266 0.00001
NM_001360016.2(G6PD):c.323T>A (p.Val108Glu) rs1557230626 0.00001
NM_001360016.2(G6PD):c.383T>C (p.Leu128Pro) rs78365220 0.00001
NM_001365536.1(SCN9A):c.2723G>A (p.Trp908Ter) rs794729216 0.00001
NM_001365951.3(KIF1B):c.5406A>G (p.Ile1802Met) rs150737970 0.00001
NM_001367561.1(DOCK7):c.6112T>G (p.Leu2038Val) rs749566422 0.00001
NM_001369268.1(ACAN):c.5221G>C (p.Gly1741Arg) rs748666817 0.00001
NM_001370259.2(MEN1):c.188T>A (p.Phe63Tyr) rs1366457977 0.00001
NM_001370259.2(MEN1):c.635A>G (p.Asn212Ser) rs1438685841 0.00001
NM_001370658.1(BTD):c.250-15del rs587783008 0.00001
NM_001370658.1(BTD):c.281G>T (p.Gly94Val) rs375712490 0.00001
NM_001370658.1(BTD):c.40G>A (p.Gly14Ser) rs119103232 0.00001
NM_001371395.1(USP53):c.1687del (p.Ser563fs) rs1263067327 0.00001
NM_001371596.2(MFSD8):c.104G>A (p.Arg35Gln) rs146596875 0.00001
NM_001371904.1(APOA5):c.1039C>A (p.Leu347Met) rs1940969645 0.00001
NM_001371986.1(UNC80):c.3358-1G>C rs1186997983 0.00001
NM_001374828.1(ARID1B):c.1319G>C (p.Gly440Ala) rs1332073619 0.00001
NM_001375654.1(RP1):c.2212-1G>A rs997666144 0.00001
NM_001378418.1(TCF20):c.3121G>C (p.Glu1041Gln) rs1450225029 0.00001
NM_001378454.1(ALMS1):c.1051C>T (p.Arg351Ter) rs1275113273 0.00001
NM_001378454.1(ALMS1):c.10933C>T (p.Gln3645Ter) rs1674967197 0.00001
NM_001378615.1(CC2D2A):c.1267C>T (p.Arg423Ter) rs757208121 0.00001
NM_001378964.1(CDON):c.2818A>C (p.Ser940Arg) rs369673018 0.00001
NM_001378974.1(FBXW11):c.211A>G (p.Ile71Val) rs1433616249 0.00001
NM_001379500.1(COL18A1):c.1187_1200dup (p.Pro401fs) rs768663340 0.00001
NM_001379500.1(COL18A1):c.2666_2667insT (p.Gly892fs) rs1568930288 0.00001
NM_001379610.1(SPINK1):c.1A>T (p.Met1Leu) rs369163833 0.00001
NM_001382430.1(AKT1):c.1172+4A>C rs1319947920 0.00001
NM_001382430.1(AKT1):c.1361A>G (p.Gln454Arg) rs759702315 0.00001
NM_001384732.1(CPLANE1):c.3104G>C (p.Gly1035Ala) rs1019442092 0.00001
NM_001384732.1(CPLANE1):c.7588+7A>G rs773662834 0.00001
NM_001384732.1(CPLANE1):c.9017+1G>A rs863225154 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_001556.3(IKBKB):c.1466G>T (p.Ser489Ile) rs1184918253 0.00001
NM_001605.3(AARS1):c.312G>A (p.Trp104Ter) rs1398433261 0.00001
NM_001673.5(ASNS):c.1213G>A (p.Ala405Thr) rs749406391 0.00001
NM_001692.4(ATP6V1B1):c.1386C>G (p.Tyr462Ter) rs1572924733 0.00001
NM_001692.4(ATP6V1B1):c.340C>T (p.Arg114Ter) rs782138777 0.00001
NM_001753.5(CAV1):c.112G>T (p.Glu38Ter) rs121434501 0.00001
NM_001844.5(COL2A1):c.4343C>G (p.Thr1448Ser) rs1481212897 0.00001
NM_001851.6(COL9A1):c.2629C>T (p.Arg877Ter) rs758388716 0.00001
NM_001875.5(CPS1):c.4172C>T (p.Thr1391Met) rs1392934477 0.00001
NM_001918.5(DBT):c.206T>C (p.Leu69Pro) rs1663813561 0.00001
NM_001961.4(EEF2):c.278A>G (p.Lys93Arg) rs922729998 0.00001
NM_002074.5(GNB1):c.239T>A (p.Ile80Asn) rs752746786 0.00001
NM_002180.3(IGHMBP2):c.1183T>C (p.Cys395Arg) rs1347461335 0.00001
NM_002180.3(IGHMBP2):c.1327C>T (p.Arg443Cys) rs751549678 0.00001
NM_002225.5(IVD):c.1206del (p.Ile402fs) rs1595797766 0.00001
NM_002225.5(IVD):c.1231C>T (p.Arg411Trp) rs1237032588 0.00001
NM_002252.5(KCNS3):c.61G>A (p.Val21Met) rs1346890703 0.00001
NM_002351.5(SH2D1A):c.7G>T (p.Ala3Ser) rs148554414 0.00001
NM_002354.3(EPCAM):c.76+21G>C rs762123721 0.00001
NM_002381.5(MATN3):c.659T>C (p.Val220Ala) rs187943382 0.00001
NM_002439.5(MSH3):c.2212A>T (p.Lys738Ter) rs1580035037 0.00001
NM_002454.3(MTRR):c.1361C>T (p.Ser454Leu) rs137853062 0.00001
NM_002454.3(MTRR):c.1727T>G (p.Leu576Trp) rs771123203 0.00001
NM_002454.3(MTRR):c.340C>T (p.Arg114Ter) rs754990692 0.00001
NM_002472.3(MYH8):c.3619G>A (p.Gly1207Arg) rs571189404 0.00001
NM_002485.5(NBN):c.119C>T (p.Ser40Leu) rs587781530 0.00001
NM_002485.5(NBN):c.1471G>A (p.Glu491Lys) rs776900339 0.00001
NM_002485.5(NBN):c.171+4T>C rs587782290 0.00001
NM_002485.5(NBN):c.1902T>G (p.Ala634=) rs876660052 0.00001
NM_002485.5(NBN):c.1912T>C (p.Ser638Pro) rs199657566 0.00001
NM_002485.5(NBN):c.2129C>T (p.Ala710Val) rs1060503454 0.00001
NM_002485.5(NBN):c.2149A>T (p.Thr717Ser) rs587780093 0.00001
NM_002485.5(NBN):c.596C>G (p.Pro199Arg) rs730881844 0.00001
NM_002529.4(NTRK1):c.1381G>A (p.Gly461Arg) rs761247634 0.00001
NM_002529.4(NTRK1):c.422A>C (p.Gln141Pro) rs1306924167 0.00001
NM_002529.4(NTRK1):c.842A>G (p.Asn281Ser) rs547972574 0.00001
NM_002546.4(TNFRSF11B):c.997C>T (p.Arg333Ter) rs1307942060 0.00001
NM_002582.4(PARN):c.948_949del (p.Val318fs) rs1461036243 0.00001
NM_002608.4(PDGFB):c.562C>T (p.Pro188Ser) rs914575595 0.00001
NM_002666.5(PLIN1):c.1136G>A (p.Arg379Lys) rs140394922 0.00001
NM_002691.4(POLD1):c.1289A>G (p.Asn430Ser) rs546554950 0.00001
NM_002691.4(POLD1):c.1635C>T (p.Tyr545=) rs1057522415 0.00001
NM_002691.4(POLD1):c.197C>G (p.Ala66Gly) rs199792522 0.00001
NM_002691.4(POLD1):c.224T>C (p.Ile75Thr) rs878854534 0.00001
NM_002691.4(POLD1):c.2717+8G>A rs752674105 0.00001
NM_002691.4(POLD1):c.3120+6A>G rs1231856737 0.00001
NM_002691.4(POLD1):c.317-5C>T rs768082423 0.00001
NM_002691.4(POLD1):c.327G>C (p.Gln109His) rs750260438 0.00001
NM_002691.4(POLD1):c.565G>T (p.Ala189Ser) rs761846026 0.00001
NM_002691.4(POLD1):c.613G>A (p.Gly205Ser) rs914238978 0.00001
NM_002691.4(POLD1):c.674G>A (p.Arg225His) rs144979965 0.00001
NM_002693.3(POLG):c.3242G>A (p.Arg1081Gln) rs140079523 0.00001
NM_002863.5(PYGL):c.697G>A (p.Gly233Ser) rs749922511 0.00001
NM_002872.5(RAC2):c.364G>A (p.Asp122Asn) rs910521882 0.00001
NM_002872.5(RAC2):c.562G>A (p.Ala188Thr) rs758461304 0.00001
NM_002878.4(RAD51D):c.263+1585C>G rs1192914615 0.00001
NM_002878.4(RAD51D):c.70A>G (p.Arg24Gly) rs781611267 0.00001
NM_002878.4(RAD51D):c.716G>A (p.Arg239Gln) rs780921112 0.00001
NM_002878.4(RAD51D):c.80C>A (p.Thr27Lys) rs139642328 0.00001
NM_002878.4(RAD51D):c.823C>T (p.Arg275Trp) rs752780416 0.00001
NM_002878.4(RAD51D):c.862G>C (p.Gly288Arg) rs1391505912 0.00001
NM_002878.4(RAD51D):c.900A>G (p.Arg300=) rs370634278 0.00001
NM_002907.4(RECQL):c.1216+3A>G rs372364772 0.00001
NM_002907.4(RECQL):c.1382A>G (p.His461Arg) rs201573409 0.00001
NM_002907.4(RECQL):c.431T>C (p.Met144Thr) rs751285035 0.00001
NM_002907.4(RECQL):c.501+3A>G rs929469507 0.00001
NM_002907.4(RECQL):c.502-2A>G rs1220859536 0.00001
NM_002907.4(RECQL):c.889A>G (p.Thr297Ala) rs146080041 0.00001
NM_002968.3(SALL1):c.220G>A (p.Val74Ile) rs529479120 0.00001
NM_003000.3(SDHB):c.638T>C (p.Met213Thr) rs202014362 0.00001
NM_003000.3(SDHB):c.769C>G (p.Leu257Val) rs761350633 0.00001
NM_003038.5(SLC1A4):c.272T>C (p.Leu91Pro) rs1037527372 0.00001
NM_003051.4(SLC16A1):c.404T>C (p.Ile135Thr) rs1570620206 0.00001
NM_003072.5(SMARCA4):c.1781G>A (p.Gly594Glu) rs750891894 0.00001
NM_003072.5(SMARCA4):c.305G>T (p.Gly102Val) rs746602808 0.00001
NM_003119.4(SPG7):c.2249C>T (p.Pro750Leu) rs879253797 0.00001
NM_003119.4(SPG7):c.415C>T (p.Arg139Ter) rs370777371 0.00001
NM_003128.3(SPTBN1):c.718C>G (p.Leu240Val) rs752488873 0.00001
NM_003172.4(SURF1):c.575G>A (p.Arg192Gln) rs782021521 0.00001
NM_003240.5(LEFTY2):c.1030C>A (p.Pro344Thr) rs777139964 0.00001
NM_003322.6(TULP1):c.931C>T (p.Arg311Trp) rs373519519 0.00001
NM_003466.4(PAX8):c.1139C>T (p.Thr380Ile) rs987647241 0.00001
NM_003560.4(PLA2G6):c.2032A>G (p.Lys678Glu) rs2087135251 0.00001
NM_003560.4(PLA2G6):c.2128C>T (p.Arg710Cys) rs587784347 0.00001
NM_003611.3(OFD1):c.1100G>A (p.Arg367Gln) rs312262864 0.00001
NM_003722.5(TP63):c.1528A>T (p.Met510Leu) rs769778189 0.00001
NM_003738.5(PTCH2):c.1296_1300del (p.Val433fs) rs781171287 0.00001
NM_003801.4(GPAA1):c.719A>G (p.Glu240Gly) rs922800309 0.00001
NM_003846.3(PEX11B):c.1A>G (p.Met1Val) rs782262926 0.00001
NM_003865.3(HESX1):c.313T>G (p.Trp105Gly) rs754137696 0.00001
NM_003907.3(EIF2B5):c.889G>A (p.Gly297Ser) rs962701773 0.00001
NM_004006.3(DMD):c.4258C>T (p.His1420Tyr) rs1475038240 0.00001
NM_004006.3(DMD):c.5653C>T (p.Gln1885Ter) rs1295935628 0.00001
NM_004006.3(DMD):c.6283C>T (p.Arg2095Ter) rs398124008 0.00001
NM_004006.3(DMD):c.9388T>G (p.Cys3130Gly) rs932848232 0.00001
NM_004044.7(ATIC):c.1085A>G (p.Tyr362Cys) rs755898039 0.00001
NM_004082.5(DCTN1):c.2540C>G (p.Ala847Gly) rs1573152106 0.00001
NM_004092.4(ECHS1):c.740C>T (p.Ala247Val) rs762885546 0.00001
NM_004092.4(ECHS1):c.796A>G (p.Thr266Ala) rs770614061 0.00001
NM_004168.4(SDHA):c.1242C>T (p.Pro414=) rs777306884 0.00001
NM_004211.5(SLC6A5):c.1640T>C (p.Phe547Ser) rs772652517 0.00001
NM_004260.4(RECQL4):c.1397C>T (p.Pro466Leu) rs386833844 0.00001
NM_004284.6(CHD1L):c.1551A>G (p.Ile517Met) rs376783101 0.00001
NM_004360.5(CDH1):c.1136C>T (p.Thr379Met) rs587782856 0.00001
NM_004360.5(CDH1):c.2332G>A (p.Ala778Thr) rs777078601 0.00001
NM_004360.5(CDH1):c.2351G>A (p.Arg784His) rs763203357 0.00001
NM_004360.5(CDH1):c.2358C>T (p.Asp786=) rs760701558 0.00001
NM_004360.5(CDH1):c.2530A>T (p.Ser844Cys) rs761400928 0.00001
NM_004360.5(CDH1):c.254T>C (p.Val85Ala) rs878854688 0.00001
NM_004360.5(CDH1):c.2638G>A (p.Glu880Lys) rs34507583 0.00001
NM_004360.5(CDH1):c.79C>T (p.Pro27Ser) rs878854696 0.00001
NM_004370.6(COL12A1):c.1216G>A (p.Ala406Thr) rs377285294 0.00001
NM_004380.3(CREBBP):c.3485A>G (p.Asn1162Ser) rs148166625 0.00001
NM_004415.4(DSP):c.2T>G (p.Met1Arg) rs748738880 0.00001
NM_004461.3(FARSA):c.766T>C (p.Phe256Leu) rs941586004 0.00001
NM_004618.5(TOP3A):c.2473C>T (p.Arg825Cys) rs762382567 0.00001
NM_004628.5(XPC):c.706A>G (p.Ile236Val) rs750767012 0.00001
NM_004656.4(BAP1):c.1166G>A (p.Arg389His) rs770778299 0.00001
NM_004656.4(BAP1):c.1421C>T (p.Pro474Leu) rs770422186 0.00001
NM_004656.4(BAP1):c.1642C>T (p.Arg548Cys) rs748853790 0.00001
NM_004656.4(BAP1):c.1748C>T (p.Ser583Leu) rs369259771 0.00001
NM_004656.4(BAP1):c.1793C>G (p.Pro598Arg) rs763927840 0.00001
NM_004656.4(BAP1):c.1820C>T (p.Thr607Met) rs770654975 0.00001
NM_004744.5(LRAT):c.163C>G (p.Arg55Gly) rs527236079 0.00001
NM_004826.4(ECEL1):c.1211G>A (p.Arg404His) rs751317107 0.00001
NM_004830.4(MED23):c.3982C>T (p.Arg1328Cys) rs766478634 0.00001
NM_004840.3(ARHGEF6):c.1943A>G (p.Lys648Arg) rs375084147 0.00001
NM_004863.4(SPTLC2):c.1292G>A (p.Gly431Asp) rs746036150 0.00001
NM_004995.4(MMP14):c.440C>T (p.Ala147Val) rs544049459 0.00001
NM_004999.4(MYO6):c.647A>T (p.Glu216Val) rs121912559 0.00001
NM_005006.7(NDUFS1):c.1256G>A (p.Arg419Gln) rs776114731 0.00001
NM_005026.5(PIK3CD):c.1714C>T (p.Pro572Ser) rs1570385564 0.00001
NM_005026.5(PIK3CD):c.3071G>A (p.Arg1024His) rs759704849 0.00001
NM_005055.5(RAPSN):c.61C>T (p.Gln21Ter) rs1595903667 0.00001
NM_005094.4(SLC27A4):c.1523C>T (p.Thr508Met) rs765311079 0.00001
NM_005144.5(HR):c.3034G>A (p.Asp1012Asn) rs121434451 0.00001
NM_005186.4(CAPN1):c.1176G>A (p.Trp392Ter) rs756830713 0.00001
NM_005228.5(EGFR):c.116C>T (p.Thr39Met) rs375919121 0.00001
NM_005228.5(EGFR):c.1570G>A (p.Val524Ile) rs587778249 0.00001
NM_005228.5(EGFR):c.1837G>A (p.Ala613Thr) rs764290273 0.00001
NM_005228.5(EGFR):c.1840G>A (p.Gly614Ser) rs779076899 0.00001
NM_005228.5(EGFR):c.2555A>G (p.Lys852Arg) rs1292517709 0.00001
NM_005228.5(EGFR):c.2862C>T (p.Asp954=) rs397517138 0.00001
NM_005228.5(EGFR):c.292C>T (p.Arg98Ter) rs1794575659 0.00001
NM_005228.5(EGFR):c.3352G>A (p.Ala1118Thr) rs770749711 0.00001
NM_005228.5(EGFR):c.59C>A (p.Pro20Gln) rs1028735720 0.00001
NM_005228.5(EGFR):c.869C>T (p.Thr290Ile) rs1020654485 0.00001
NM_005359.6(SMAD4):c.1486C>T (p.Arg496Cys) rs397518413 0.00001
NM_005373.3(MPL):c.578G>A (p.Cys193Tyr) rs1313333589 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_005431.2(XRCC2):c.714G>C (p.Arg238Ser) rs534746330 0.00001
NM_005475.3(SH2B3):c.1A>G (p.Met1Val) rs376261237 0.00001
NM_005548.3(KARS1):c.1493C>T (p.Ala498Val) rs1415687857 0.00001
NM_005632.3(CAPN15):c.1930G>A (p.Ala644Thr) rs773578611 0.00001
NM_005633.4(SOS1):c.1385T>A (p.Phe462Tyr) rs730881043 0.00001
NM_005633.4(SOS1):c.571G>A (p.Glu191Lys) rs886041241 0.00001
NM_005670.4(EPM2A):c.302-1G>C rs369463720 0.00001
NM_005677.4(COLQ):c.219+1G>C rs149020371 0.00001
NM_005689.4(ABCB6):c.169G>A (p.Ala57Thr) rs387906911 0.00001
NM_005720.4(ARPC1B):c.64+1G>A rs111297226 0.00001
NM_005726.6(TSFM):c.521C>T (p.Ala174Val) rs748509130 0.00001
NM_005732.4(RAD50):c.1115A>G (p.Gln372Arg) rs375070140 0.00001
NM_005732.4(RAD50):c.3037-6C>T rs1209508205 0.00001
NM_005807.6(PRG4):c.3756dup (p.Lys1253Ter) rs1406678014 0.00001
NM_005921.2(MAP3K1):c.770C>T (p.Pro257Leu) rs56160159 0.00001
NM_005989.4(AKR1D1):c.332T>C (p.Leu111Pro) rs187887082 0.00001
NM_006005.3(WFS1):c.472G>A (p.Glu158Lys) rs567563179 0.00001
NM_006015.6(ARID1A):c.592C>T (p.Pro198Ser) rs777557012 0.00001
NM_006017.3(PROM1):c.1157T>A (p.Leu386Ter) rs886037880 0.00001
NM_006017.3(PROM1):c.1984-1G>T rs373680665 0.00001
NM_006218.4(PIK3CA):c.1060-9T>C rs750875731 0.00001
NM_006218.4(PIK3CA):c.1489A>C (p.Asn497His) rs199563773 0.00001
NM_006218.4(PIK3CA):c.1850G>A (p.Arg617Gln) rs3865687 0.00001
NM_006231.4(POLE):c.1359+4C>T rs752118019 0.00001
NM_006231.4(POLE):c.1741G>T (p.Ala581Ser) rs755090755 0.00001
NM_006231.4(POLE):c.1846C>T (p.Arg616Cys) rs752076074 0.00001
NM_006231.4(POLE):c.2342C>T (p.Ala781Val) rs1060500855 0.00001
NM_006231.4(POLE):c.3276-30C>T rs773248517 0.00001
NM_006231.4(POLE):c.3582+7G>A rs558837073 0.00001
NM_006231.4(POLE):c.3722A>C (p.Glu1241Ala) rs755166232 0.00001
NM_006231.4(POLE):c.3865C>T (p.Arg1289Cys) rs770036124 0.00001
NM_006231.4(POLE):c.3866G>A (p.Arg1289His) rs781298285 0.00001
NM_006231.4(POLE):c.4427T>G (p.Phe1476Cys) rs985504177 0.00001
NM_006231.4(POLE):c.4480C>G (p.Gln1494Glu) rs1443837551 0.00001
NM_006231.4(POLE):c.5312C>T (p.Thr1771Met) rs777695766 0.00001
NM_006231.4(POLE):c.5398G>A (p.Val1800Met) rs199777048 0.00001
NM_006231.4(POLE):c.5429A>T (p.His1810Leu) rs777390504 0.00001
NM_006231.4(POLE):c.5575C>G (p.Leu1859Val) rs184253572 0.00001
NM_006231.4(POLE):c.5678+3G>A rs1060500826 0.00001
NM_006231.4(POLE):c.5866G>A (p.Glu1956Lys) rs749992643 0.00001
NM_006231.4(POLE):c.5900C>T (p.Ala1967Val) rs201273415 0.00001
NM_006231.4(POLE):c.6166G>A (p.Ala2056Thr) rs58916399 0.00001
NM_006231.4(POLE):c.6196A>G (p.Ile2066Val) rs1266801207 0.00001
NM_006231.4(POLE):c.6433C>T (p.Arg2145Ter) rs1451513451 0.00001
NM_006231.4(POLE):c.6540G>A (p.Ala2180=) rs746976542 0.00001
NM_006231.4(POLE):c.6583G>A (p.Asp2195Asn) rs1472336573 0.00001
NM_006231.4(POLE):c.6775C>T (p.Arg2259Trp) rs866548835 0.00001
NM_006245.4(PPP2R5D):c.793A>C (p.Ile265Leu) rs957822115 0.00001
NM_006269.2(RP1):c.1265dup (p.Ala423fs) rs770659908 0.00001
NM_006303.4(AIMP2):c.31G>C (p.Gly11Arg) rs1786347539 0.00001
NM_006308.3(HSPB3):c.279G>A (p.Trp93Ter) rs142626276 0.00001
NM_006343.3(MERTK):c.2303C>T (p.Ala768Val) rs778383770 0.00001
NM_006420.3(ARFGEF2):c.5254C>T (p.Arg1752Ter) rs1380925561 0.00001
NM_006493.4(CLN5):c.187C>T (p.Arg63Cys) rs786205211 0.00001
NM_006493.4(CLN5):c.688G>A (p.Asp230Asn) rs28940280 0.00001
NM_006516.4(SLC2A1):c.278G>A (p.Arg93Gln) rs80359815 0.00001
NM_006521.6(TFE3):c.1525C>A (p.His509Asn) rs997854429 0.00001
NM_006766.5(KAT6A):c.5776C>G (p.Arg1926Gly) rs900174205 0.00001
NM_006767.4(LZTR1):c.1785+1G>A rs145594158 0.00001
NM_006892.4(DNMT3B):c.2476C>T (p.Arg826Cys) rs201579632 0.00001
NM_006946.4(SPTBN2):c.913C>T (p.Arg305Cys) rs372293906 0.00001
NM_007055.4(POLR3A):c.1114G>A (p.Asp372Asn) rs267608673 0.00001
NM_007059.4(KPTN):c.428C>T (p.Pro143Leu) rs372955218 0.00001
NM_007194.3(CHEK2):c.-70A>T rs1264820873 0.00001
NM_007194.4(CHEK2):c.-9G>C rs1489154308 0.00001
NM_007194.4(CHEK2):c.1024G>A (p.Gly342Ser) rs730881705 0.00001
NM_007194.4(CHEK2):c.1036C>T (p.Arg346Cys) rs201206424 0.00001
NM_007194.4(CHEK2):c.1039G>A (p.Asp347Asn) rs28909980 0.00001
NM_007194.4(CHEK2):c.1195G>A (p.Val399Ile) rs876658682 0.00001
NM_007194.4(CHEK2):c.1232G>A (p.Trp411Ter) rs371418985 0.00001
NM_007194.4(CHEK2):c.1290T>C (p.His430=) rs373864492 0.00001
NM_007194.4(CHEK2):c.1321A>G (p.Thr441Ala) rs876660046 0.00001
NM_007194.4(CHEK2):c.1452G>A (p.Pro484=) rs749156425 0.00001
NM_007194.4(CHEK2):c.34T>A (p.Ser12Thr) rs876661027 0.00001
NM_007194.4(CHEK2):c.485A>G (p.Asp162Gly) rs587781652 0.00001
NM_007194.4(CHEK2):c.503C>T (p.Thr168Ile) rs730881684 0.00001
NM_007194.4(CHEK2):c.557A>G (p.Asn186Ser) rs369223840 0.00001
NM_007194.4(CHEK2):c.592+3A>T rs587782849 0.00001
NM_007194.4(CHEK2):c.792+2T>C rs545982789 0.00001
NM_007194.4(CHEK2):c.842A>G (p.Asn281Ser) rs587782196 0.00001
NM_007194.4(CHEK2):c.846+1G>C rs864622149 0.00001
NM_007194.4(CHEK2):c.851G>A (p.Cys284Tyr) rs876658150 0.00001
NM_007194.4(CHEK2):c.904G>A (p.Glu302Lys) rs587782460 0.00001
NM_007198.4(PLPBP):c.613C>T (p.Arg205Trp) rs1384327533 0.00001
NM_007294.4(BRCA1):c.-20+28G>A rs904265019 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.1687C>T (p.Gln563Ter) rs80356898 0.00001
NM_007294.4(BRCA1):c.1712T>C (p.Ile571Thr) rs80357159 0.00001
NM_007294.4(BRCA1):c.1797T>C (p.Asn599=) rs756211343 0.00001
NM_007294.4(BRCA1):c.1868T>C (p.Leu623Pro) rs397508915 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.2885A>G (p.Glu962Gly) rs780367532 0.00001
NM_007294.4(BRCA1):c.301+12A>C rs863224757 0.00001
NM_007294.4(BRCA1):c.3082C>T (p.Arg1028Cys) rs80357049 0.00001
NM_007294.4(BRCA1):c.3092T>G (p.Ile1031Ser) rs863224758 0.00001
NM_007294.4(BRCA1):c.3432G>A (p.Gln1144=) rs80356922 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.3711A>G (p.Ile1237Met) rs80357388 0.00001
NM_007294.4(BRCA1):c.3868A>G (p.Lys1290Glu) rs80357254 0.00001
NM_007294.4(BRCA1):c.4073A>G (p.Glu1358Gly) rs397507225 0.00001
NM_007294.4(BRCA1):c.4096+1G>A rs80358178 0.00001
NM_007294.4(BRCA1):c.4166G>A (p.Ser1389Asn) rs78951648 0.00001
NM_007294.4(BRCA1):c.4342A>G (p.Ser1448Gly) rs80357486 0.00001
NM_007294.4(BRCA1):c.4344C>T (p.Ser1448=) rs1250691798 0.00001
NM_007294.4(BRCA1):c.4358-2715C>A rs746972533 0.00001
NM_007294.4(BRCA1):c.4485-10A>G rs863224420 0.00001
NM_007294.4(BRCA1):c.4816A>G (p.Lys1606Glu) rs80356943 0.00001
NM_007294.4(BRCA1):c.4843G>A (p.Ala1615Thr) rs80356987 0.00001
NM_007294.4(BRCA1):c.488G>C (p.Arg163Thr) rs1369043501 0.00001
NM_007294.4(BRCA1):c.4910C>T (p.Pro1637Leu) rs80357048 0.00001
NM_007294.4(BRCA1):c.5096G>A (p.Arg1699Gln) rs41293459 0.00001
NM_007294.4(BRCA1):c.5129G>A (p.Gly1710Glu) rs398122691 0.00001
NM_007294.4(BRCA1):c.5277+98T>C rs1597810191 0.00001
NM_007294.4(BRCA1):c.5332+15G>C rs80358148 0.00001
NM_007294.4(BRCA1):c.5444G>A (p.Trp1815Ter) rs80356962 0.00001
NM_007294.4(BRCA1):c.5573T>C (p.Ile1858Thr) rs755427809 0.00001
NM_007294.4(BRCA1):c.701C>A (p.Thr234Lys) rs1555593290 0.00001
NM_007294.4(BRCA1):c.755G>A (p.Arg252His) rs80357138 0.00001
NM_007294.4(BRCA1):c.995G>A (p.Arg332Gln) rs80357464 0.00001
NM_012079.6(DGAT1):c.838C>T (p.Arg280Ter) rs1554847435 0.00001
NM_012199.5(AGO1):c.25+7G>A rs1458276516 0.00001
NM_012295.4(CABIN1):c.5939C>T (p.Pro1980Leu) rs532338041 0.00001
NM_012418.4(FSCN2):c.904A>T (p.Lys302Ter) rs561813825 0.00001
NM_012470.4(TNPO3):c.1334C>T (p.Ala445Val) rs1585339231 0.00001
NM_013432.5(TONSL):c.1480G>A (p.Glu494Lys) rs775551492 0.00001
NM_013432.5(TONSL):c.2800C>T (p.Arg934Trp) rs755575416 0.00001
NM_013444.4(UBQLN2):c.1319C>T (p.Pro440Leu) rs763131369 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_014003.4(DHX38):c.967G>A (p.Asp323Asn) rs1217647309 0.00001
NM_014215.3(INSRR):c.3537dup (p.Val1180fs) rs761392074 0.00001
NM_014244.5(ADAMTS2):c.688+1G>A rs1182409555 0.00001
NM_014251.3(SLC25A13):c.848+1G>T rs761370420 0.00001
NM_014254.3(RXYLT1):c.429-2A>G rs199605239 0.00001
NM_014363.6(SACS):c.3391C>T (p.Leu1131Phe) rs139805032 0.00001
NM_014363.6(SACS):c.562G>A (p.Gly188Arg) rs780184251 0.00001
NM_014874.4(MFN2):c.2258dup (p.Gln754fs) rs773371488 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_015338.6(ASXL1):c.314C>T (p.Thr105Met) rs749495615 0.00001
NM_015346.4(ZFYVE26):c.6296dup (p.Asn2100fs) rs1555394376 0.00001
NM_015443.4(KANSL1):c.808_809del (p.Leu270fs) rs551541795 0.00001
NM_015466.4(PTPN23):c.1012T>G (p.Leu338Val) rs1358808403 0.00001
NM_015559.3(SETBP1):c.4202G>A (p.Arg1401Gln) rs775975116 0.00001
NM_015665.6(AAAS):c.938T>C (p.Val313Ala) rs773601814 0.00001
NM_015836.4(WARS2):c.526G>T (p.Val176Phe) rs745543661 0.00001
NM_015909.4(NBAS):c.680A>C (p.His227Pro) rs748880753 0.00001
NM_016111.4(TELO2):c.1825C>T (p.Arg609Cys) rs766665093 0.00001
NM_016111.4(TELO2):c.1842+5G>A rs758551997 0.00001
NM_016138.5(COQ7):c.3G>T (p.Met1Ile) rs746489573 0.00001
NM_016156.6(MTMR2):c.1090C>T (p.Arg364Ter) rs776757548 0.00001
NM_016222.4(DDX41):c.364G>T (p.Glu122Ter) rs200567842 0.00001
NM_016222.4(DDX41):c.931C>T (p.Arg311Ter) rs899399494 0.00001
NM_016556.4(PSMC3IP):c.-35C>T rs369453385 0.00001
NM_017534.6(MYH2):c.2806G>A (p.Glu936Lys) rs1373237213 0.00001
NM_017534.6(MYH2):c.5095G>C (p.Glu1699Gln) rs1321342402 0.00001
NM_017534.6(MYH2):c.533C>T (p.Thr178Ile) rs756953958 0.00001
NM_017635.5(KMT5B):c.427C>T (p.Arg143Cys) rs763305812 0.00001
NM_017644.3(KLHL24):c.1216C>T (p.Leu406Phe) rs1214484497 0.00001
NM_017646.6(TRIT1):c.967C>T (p.Arg323Trp) rs370866302 0.00001
NM_017649.5(CNNM2):c.595G>A (p.Ala199Thr) rs984170802 0.00001
NM_017775.4(TTC19):c.1A>G (p.Met1Val) rs749196122 0.00001
NM_017882.3(CLN6):c.898T>C (p.Trp300Arg) rs750937323 0.00001
NM_018122.5(DARS2):c.610C>G (p.Leu204Val) rs1020907363 0.00001
NM_018139.3(DNAAF2):c.2428C>T (p.Gln810Ter) rs747290752 0.00001
NM_018196.4(TMLHE):c.359-2A>G rs782792356 0.00001
NM_018263.6(ASXL2):c.2530G>C (p.Ala844Pro) rs1444386149 0.00001
NM_018418.5(SPATA7):c.19+2T>A rs866837129 0.00001
NM_018489.3(ASH1L):c.7249G>A (p.Ala2417Thr) rs753396609 0.00001
NM_018941.4(CLN8):c.792C>G (p.Asn264Lys) rs587779411 0.00001
NM_018951.4(HOXA10):c.170A>G (p.Tyr57Cys) rs570291423 0.00001
NM_018972.4(GDAP1):c.355C>A (p.Pro119Thr) rs936681187 0.00001
NM_019098.5(CNGB3):c.1810C>T (p.Arg604Ter) rs200805087 0.00001
NM_019098.5(CNGB3):c.2T>C (p.Met1Thr) rs1554619514 0.00001
NM_020247.5(COQ8A):c.1706C>A (p.Ala569Asp) rs765235707 0.00001
NM_020320.5(RARS2):c.1282G>A (p.Gly428Arg) rs764875815 0.00001
NM_020338.4(ZMIZ1):c.2286+3G>C rs1244950516 0.00001
NM_020366.4(RPGRIP1):c.2012G>A (p.Gly671Glu) rs1348186141 0.00001
NM_020366.4(RPGRIP1):c.800+1G>A rs376500610 0.00001
NM_020366.4(RPGRIP1):c.800G>A (p.Arg267Gln) rs758239674 0.00001
NM_020442.6(VARS2):c.1010C>T (p.Thr337Ile) rs587777585 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_020745.4(AARS2):c.2255+1G>A rs1186074948 0.00001
NM_020745.4(AARS2):c.964C>T (p.Arg322Cys) rs767748655 0.00001
NM_020754.4(ARHGAP31):c.3586C>T (p.Gln1196Ter) rs2080767698 0.00001
NM_020822.3(KCNT1):c.2782C>T (p.Arg928Cys) rs397515405 0.00001
NM_020928.2(ZSWIM6):c.2557G>A (p.Glu853Lys) rs748121822 0.00001
NM_020937.4(FANCM):c.1919T>C (p.Met640Thr) rs768830366 0.00001
NM_020937.4(FANCM):c.424C>T (p.Pro142Ser) rs771875070 0.00001
NM_020937.4(FANCM):c.4465G>A (p.Gly1489Arg) rs183784665 0.00001
NM_020975.6(RET):c.1183G>C (p.Val395Leu) rs1452469572 0.00001
NM_020975.6(RET):c.1448A>G (p.Tyr483Cys) rs752322996 0.00001
NM_020975.6(RET):c.1462A>T (p.Thr488Ser) rs753733901 0.00001
NM_020975.6(RET):c.1760-3C>T rs587781734 0.00001
NM_020975.6(RET):c.1907C>T (p.Thr636Met) rs1035958105 0.00001
NM_020975.6(RET):c.2129A>G (p.Lys710Arg) rs774983492 0.00001
NM_020975.6(RET):c.2166G>T (p.Lys722Asn) rs527726480 0.00001
NM_020975.6(RET):c.2234A>T (p.His745Leu) rs534094626 0.00001
NM_020975.6(RET):c.2289C>T (p.Asn763=) rs777349208 0.00001
NM_020975.6(RET):c.3052C>T (p.Leu1018Phe) rs766330880 0.00001
NM_020975.6(RET):c.3091G>A (p.Asp1031Asn) rs200989078 0.00001
NM_020975.6(RET):c.3314C>T (p.Ala1105Val) rs532862288 0.00001
NM_020975.6(RET):c.3332C>T (p.Thr1111Met) rs1003057639 0.00001
NM_020975.6(RET):c.652C>T (p.Pro218Ser) rs1009392744 0.00001
NM_020987.5(ANK3):c.3727C>T (p.Arg1243Cys) rs1589784865 0.00001
NM_020987.5(ANK3):c.8174G>A (p.Gly2725Asp) rs993289778 0.00001
NM_021008.4(DEAF1):c.716A>G (p.Glu239Gly) rs1064795812 0.00001
NM_021267.5(CERS1):c.763C>T (p.Arg255Cys) rs1375601977 0.00001
NM_021625.5(TRPV4):c.214C>T (p.Gln72Ter) rs866577166 0.00001
NM_021969.3(NR0B2):c.583G>T (p.Ala195Ser) rs74315350 0.00001
NM_022048.5(CSNK1G1):c.80G>A (p.Arg27Gln) rs762488597 0.00001
NM_022124.6(CDH23):c.5584G>A (p.Glu1862Lys) rs773004408 0.00001
NM_022124.6(CDH23):c.9139G>A (p.Val3047Ile) rs558094423 0.00001
NM_022773.4(LMF1):c.1391G>A (p.Trp464Ter) rs587777626 0.00001
NM_022788.5(P2RY12):c.364C>T (p.Arg122Cys) rs557043245 0.00001
NM_022788.5(P2RY12):c.793C>T (p.Arg265Trp) rs121917886 0.00001
NM_022788.5(P2RY12):c.794G>C (p.Arg265Pro) rs755459581 0.00001
NM_023067.4(FOXL2):c.772T>A (p.Tyr258Asn) rs28937885 0.00001
NM_023110.3(FGFR1):c.358+4G>A rs369853854 0.00001
NM_024426.6(WT1):c.1017-19C>T rs1398407708 0.00001
NM_024426.6(WT1):c.1120C>T (p.Arg374Ter) rs1423753702 0.00001
NM_024426.6(WT1):c.404C>T (p.Pro135Leu) rs769642496 0.00001
NM_024426.6(WT1):c.661+8G>A rs1313565005 0.00001
NM_024426.6(WT1):c.662G>A (p.Gly221Asp) rs369444006 0.00001
NM_024577.4(SH3TC2):c.2829T>G (p.Tyr943Ter) rs80338932 0.00001
NM_024649.5(BBS1):c.118del (p.Cys40fs) rs1490351829 0.00001
NM_024675.4(PALB2):c.108+1G>A rs1060499814 0.00001
NM_024675.4(PALB2):c.1140_1143del (p.Ser380fs) rs1257545151 0.00001
NM_024675.4(PALB2):c.1240C>T (p.Arg414Ter) rs180177100 0.00001
NM_024675.4(PALB2):c.1311A>G (p.Lys437=) rs190489275 0.00001
NM_024675.4(PALB2):c.1408A>G (p.Thr470Ala) rs150636811 0.00001
NM_024675.4(PALB2):c.1540G>A (p.Gly514Arg) rs756778249 0.00001
NM_024675.4(PALB2):c.1611G>A (p.Ser537=) rs730881874 0.00001
NM_024675.4(PALB2):c.1675C>T (p.Gln559Ter) rs1555461154 0.00001
NM_024675.4(PALB2):c.1886C>T (p.Ser629Phe) rs1169756751 0.00001
NM_024675.4(PALB2):c.1923A>G (p.Lys641=) rs775283927 0.00001
NM_024675.4(PALB2):c.2026A>C (p.Ile676Leu) rs761478794 0.00001
NM_024675.4(PALB2):c.2116A>G (p.Thr706Ala) rs767056829 0.00001
NM_024675.4(PALB2):c.212-6C>T rs1416424510 0.00001
NM_024675.4(PALB2):c.2258G>A (p.Arg753Gln) rs587778586 0.00001
NM_024675.4(PALB2):c.229T>C (p.Cys77Arg) rs760045493 0.00001
NM_024675.4(PALB2):c.2344C>T (p.Pro782Ser) rs786203296 0.00001
NM_024675.4(PALB2):c.2401G>A (p.Asp801Asn) rs587782765 0.00001
NM_024675.4(PALB2):c.2403C>G (p.Asp801Glu) rs876659364 0.00001
NM_024675.4(PALB2):c.2438T>C (p.Ile813Thr) rs763191051 0.00001
NM_024675.4(PALB2):c.2453T>C (p.Phe818Ser) rs370908330 0.00001
NM_024675.4(PALB2):c.2720A>G (p.Glu907Gly) rs45504298 0.00001
NM_024675.4(PALB2):c.2869A>C (p.Lys957Gln) rs515726103 0.00001
NM_024675.4(PALB2):c.3194C>G (p.Ser1065Cys) rs1347982621 0.00001
NM_024675.4(PALB2):c.3350+5G>A rs587782566 0.00001
NM_024675.4(PALB2):c.495C>T (p.Gly165=) rs200937538 0.00001
NM_024685.4(BBS10):c.850C>T (p.Gln284Ter) rs758732081 0.00001
NM_024996.7(GFM1):c.1822C>T (p.Arg608Trp) rs762576741 0.00001
NM_025077.4(TOE1):c.52+130A>G rs1215187269 0.00001
NM_025077.4(TOE1):c.52+97G>A rs992028783 0.00001
NM_025114.4(CEP290):c.3911T>C (p.Met1304Thr) rs761010723 0.00001
NM_025207.5(FLAD1):c.745C>T (p.Arg249Ter) rs199979286 0.00001
NM_030632.3(ASXL3):c.2471C>T (p.Pro824Leu) rs764053964 0.00001
NM_030954.4(RNF170):c.640A>G (p.Ile214Val) rs587780441 0.00001
NM_030973.4(MED25):c.1366C>T (p.Gln456Ter) rs758524310 0.00001
NM_030973.4(MED25):c.1396C>T (p.Arg466Trp) rs759187460 0.00001
NM_031478.6(TLCD3B):c.166G>A (p.Gly56Ser) rs745587834 0.00001
NM_032043.2(BRIP1):c.2097+8A>C rs730881642 0.00001
NM_032043.3(BRIP1):c.-225G>A rs1603369188 0.00001
NM_032043.3(BRIP1):c.-56C>G rs1054876315 0.00001
NM_032043.3(BRIP1):c.1455T>C (p.Ala485=) rs773489367 0.00001
NM_032043.3(BRIP1):c.1473+6A>G rs587780827 0.00001
NM_032043.3(BRIP1):c.2119C>T (p.Arg707Cys) rs764803896 0.00001
NM_032043.3(BRIP1):c.2257+5C>T rs1057523068 0.00001
NM_032043.3(BRIP1):c.2344A>G (p.Ile782Val) rs142806416 0.00001
NM_032043.3(BRIP1):c.2902A>G (p.Lys968Glu) rs587782679 0.00001
NM_032043.3(BRIP1):c.2906-1G>A rs773639563 0.00001
NM_032043.3(BRIP1):c.2914G>A (p.Val972Ile) rs786203224 0.00001
NM_032043.3(BRIP1):c.3096T>G (p.Ser1032Arg) rs763162379 0.00001
NM_032043.3(BRIP1):c.3122T>C (p.Met1041Thr) rs761225576 0.00001
NM_032043.3(BRIP1):c.3178G>A (p.Val1060Ile) rs149016505 0.00001
NM_032043.3(BRIP1):c.326A>G (p.Asn109Ser) rs587782734 0.00001
NM_032043.3(BRIP1):c.3460A>G (p.Arg1154Gly) rs769359514 0.00001
NM_032043.3(BRIP1):c.3693A>G (p.Ile1231Met) rs1046992728 0.00001
NM_032043.3(BRIP1):c.509T>G (p.Ile170Ser) rs1265322103 0.00001
NM_032043.3(BRIP1):c.991A>T (p.Met331Leu) rs1380876424 0.00001
NM_032119.4(ADGRV1):c.13255A>G (p.Met4419Val) rs1373626737 0.00001
NM_032119.4(ADGRV1):c.5857A>G (p.Ser1953Gly) rs1425873975 0.00001
NM_032119.4(ADGRV1):c.6523G>T (p.Val2175Phe) rs1746241769 0.00001
NM_032119.4(ADGRV1):c.9749-2del rs1751549898 0.00001
NM_032444.4(SLX4):c.2878A>T (p.Ser960Cys) rs772190416 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_032808.7(LINGO1):c.868C>T (p.Arg290Cys) rs767873726 0.00001
NM_033100.4(CDHR1):c.862+4A>C rs1352559639 0.00001
NM_033225.6(CSMD1):c.4892G>C (p.Gly1631Ala) rs960975533 0.00001
NM_033343.4(LHX4):c.250C>T (p.Arg84Cys) rs121912642 0.00001
NM_033409.4(SLC52A3):c.106G>A (p.Glu36Lys) rs267606686 0.00001
NM_033453.4(ITPA):c.488+1G>A rs1380443187 0.00001
NM_052989.3(IFT122):c.1367G>A (p.Cys456Tyr) rs1335391766 0.00001
NM_054012.4(ASS1):c.175-1119G>A rs1488840592 0.00001
NM_057175.5(NAA15):c.788G>C (p.Gly263Ala) rs1294195844 0.00001
NM_058004.4(PI4KA):c.2575-1G>A rs775166339 0.00001
NM_058195.4(CDKN2A):c.35G>A (p.Arg12Gln) rs201877069 0.00001
NM_058216.3(RAD51C):c.-2C>T rs876658796 0.00001
NM_058216.3(RAD51C):c.1097G>A (p.Arg366Gln) rs577852020 0.00001
NM_058216.3(RAD51C):c.141C>T (p.Ser47=) rs568912602 0.00001
NM_058216.3(RAD51C):c.145+11C>G rs1263551026 0.00001
NM_058216.3(RAD51C):c.3G>A (p.Met1Ile) rs769053886 0.00001
NM_058216.3(RAD51C):c.523G>A (p.Ala175Thr) rs587780838 0.00001
NM_058216.3(RAD51C):c.547A>G (p.Ile183Val) rs753475114 0.00001
NM_058216.3(RAD51C):c.571+4A>G rs587780257 0.00001
NM_058216.3(RAD51C):c.656T>C (p.Leu219Ser) rs201529791 0.00001
NM_058216.3(RAD51C):c.709C>T (p.Arg237Ter) rs770637624 0.00001
NM_058216.3(RAD51C):c.710G>A (p.Arg237Gln) rs370393672 0.00001
NM_080425.4(GNAS):c.1397_1398insC (p.Ala467fs) rs1178804802 0.00001
NM_130797.4(DPP6):c.2304G>C (p.Glu768Asp) rs1584993945 0.00001
NM_130837.3(OPA1):c.312A>G (p.Ile104Met) rs755117948 0.00001
NM_133433.4(NIPBL):c.4378C>T (p.Leu1460Phe) rs1580456602 0.00001
NM_133433.4(NIPBL):c.5195A>G (p.Lys1732Arg) rs775226349 0.00001
NM_138459.5(NUS1):c.335C>G (p.Pro112Arg) rs540846579 0.00001
NM_138694.4(PKHD1):c.1748G>A (p.Cys583Tyr) rs369292828 0.00001
NM_138773.4(SLC25A46):c.779C>T (p.Pro260Leu) rs1580870705 0.00001
NM_139242.4(MTFMT):c.4A>G (p.Arg2Gly) rs991786040 0.00001
NM_145239.3(PRRT2):c.1011C>T (p.Gly337=) rs745970212 0.00001
NM_145239.3(PRRT2):c.324_325del (p.Ser110fs) rs886042013 0.00001
NM_145239.3(PRRT2):c.796C>T (p.Arg266Trp) rs387907128 0.00001
NM_145239.3(PRRT2):c.959C>T (p.Ala320Val) rs1301400509 0.00001
NM_152384.3(BBS5):c.209-1G>A rs1172161975 0.00001
NM_152443.3(RDH12):c.464C>T (p.Thr155Ile) rs121434337 0.00001
NM_152443.3(RDH12):c.677A>G (p.Tyr226Cys) rs28940313 0.00001
NM_152564.5(VPS13B):c.5220G>T (p.Glu1740Asp) rs780598553 0.00001
NM_152795.4(HIF3A):c.1313G>A (p.Arg438Gln) rs757326064 0.00001
NM_153033.5(KCTD7):c.281G>A (p.Arg94Gln) rs984651812 0.00001
NM_153240.5(NPHP3):c.2805C>T (p.Gly935=) rs1281725083 0.00001
NM_170606.3(KMT2C):c.10759C>G (p.Gln3587Glu) rs567451018 0.00001
NM_170784.3(MKKS):c.169A>G (p.Thr57Ala) rs74315399 0.00001
NM_170784.3(MKKS):c.429_430del (p.Asp143_Phe144insTer) rs762222223 0.00001
NM_170784.3(MKKS):c.433_434del (p.Phe144_Ser145insTer) rs764382536 0.00001
NM_172245.4(CSF2RA):c.586G>A (p.Gly196Arg) rs137852353 0.00001
NM_172245.4(CSF2RA):c.595C>T (p.Arg199Ter) rs1395037247 0.00001
NM_172245.4(CSF2RA):c.610C>T (p.Gln204Ter) rs2091299213 0.00001
NM_172245.4(CSF2RA):c.649C>T (p.Arg217Ter) rs753455319 0.00001
NM_173354.5(SIK1):c.1897C>T (p.Gln633Ter) rs786205162 0.00001
NM_177438.3(DICER1):c.830C>T (p.Ala277Val) rs986916694 0.00001
NM_177550.5(SLC13A5):c.1514C>T (p.Pro505Leu) rs936922976 0.00001
NM_178857.6(RP1L1):c.2140C>T (p.Gln714Ter) rs768294537 0.00001
NM_181552.4(CUX1):c.1361C>T (p.Ala454Val) rs1212077259 0.00001
NM_181882.3(PRX):c.1529T>C (p.Met510Thr) rs780375180 0.00001
NM_182961.4(SYNE1):c.4196T>C (p.Leu1399Pro) rs754773565 0.00001
NM_183050.4(BCKDHB):c.1159C>T (p.Arg387Ter) rs751599203 0.00001
NM_183050.4(BCKDHB):c.115G>A (p.Ala39Thr) rs914935376 0.00001
NM_199242.3(UNC13D):c.1596+1G>C rs933702160 0.00001
NM_199242.3(UNC13D):c.640C>T (p.Arg214Ter) rs769243366 0.00001
NM_199242.3(UNC13D):c.817C>T (p.Arg273Ter) rs201589664 0.00001
NM_201548.5(CERKL):c.356G>A (p.Gly119Asp) rs1003615909 0.00001
NM_201631.4(TGM5):c.640del (p.Leu214fs) rs606231277 0.00001
NM_201631.4(TGM5):c.684+1G>A rs755087362 0.00001
NM_206933.4(USH2A):c.10712C>T (p.Thr3571Met) rs202175091 0.00001
NM_206933.4(USH2A):c.1547G>T (p.Gly516Val) rs1415484067 0.00001
NM_206933.4(USH2A):c.3368A>G (p.Tyr1123Cys) rs775177930 0.00001
NM_206933.4(USH2A):c.5278del (p.Asp1760fs) rs754374132 0.00001
NM_206933.4(USH2A):c.9815C>T (p.Pro3272Leu) rs764182950 0.00001
NM_206933.4(USH2A):c.9920G>A (p.Cys3307Tyr) rs983763783 0.00001
NM_206933.4(USH2A):c.9982T>A (p.Tyr3328Asn) rs1558099268 0.00001
NM_207346.3(TSEN54):c.277T>C (p.Ser93Pro) rs113994151 0.00001
NM_213655.5(WNK1):c.2920C>T (p.Gln974Ter) rs1478989689 0.00001
NC_000001.10:g.100330092T>A rs794729208
NC_000002.11:g.238258810delG rs794729205
NC_000002.12:g.166051989del rs1574266816
NC_000002.12:g.21043539_21043552del rs2103389975
NC_000002.12:g.214809692G>A rs551544754
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_000003.12:g.48589471del rs1336602322
NC_000004.11:g.15589466_15589468delGAA rs794729225
NC_000004.11:g.15601250_15601251delCT rs794729226
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_000007.14:g.117664688_117667108del
NC_000009.12:g.134824601del rs1588597744
NC_000010.11:g.3166389_3166390insAGAGAGGAATGGCACGCTAGGGAAG
NC_000010.11:g.87965287del rs2132289111
NC_000011.10:g.108222768C>T rs1056339095
NC_000014.9:g.23415255_23415272del rs2138638795
NC_000015.10:g.65611127GGCATAAACTTTCCGTC[3] rs531278113
NC_000015.9:g.68504037_68504039delGAT rs121908080
NC_000017.11:g.43045086_43057213del
NC_000017.11:g.43110502_43125418del
NC_000017.11:g.43125443A>C rs113323025
NC_000018.9:g.77748581_77748614del34 rs535089924
NC_000019.10:g.13599780G>A rs1408235628
NC_000022.10:g.38511626C>T rs794729212
NC_000022.11:g.36864921_36864935del rs1200078508
NC_000023.11:g.32390170_32390182del rs2147621477
NC_000023.11:g.32565874_32565883dup rs2149095626
NC_012920.1(MT-ATP6):m.8783G>A rs1603221804
NC_012920.1(MT-ATP6):m.9035T>C rs1603222000
NC_012920.1(MT-CO1):m.7023G>A rs2124593767
NC_012920.1(MT-CO2):m.7623C>T rs2124594114
NC_012920.1(MT-CYB):m.10406G>A rs1603222826
NC_012920.1(MT-CYB):m.12258C>T rs118203888
NC_012920.1(MT-CYB):m.12264C>T rs1603223642
NC_012920.1(MT-CYB):m.15170G>A rs2124598725
NC_012920.1(MT-CYB):m.16002T>C rs1603225633
NC_012920.1(MT-CYB):m.1630A>G rs1603218588
NC_012920.1(MT-CYB):m.1644G>A rs587776441
NC_012920.1(MT-CYB):m.1659T>C rs1603218609
NC_012920.1(MT-CYB):m.3243A>T rs199474657
NC_012920.1(MT-CYB):m.3255G>A rs1603218856
NC_012920.1(MT-CYB):m.3302A>G rs1603218878
NC_012920.1(MT-CYB):m.4296G>A rs1603219393
NC_012920.1(MT-CYB):m.5540G>A rs1603220014
NC_012920.1(MT-CYB):m.5543T>C rs1603220016
NC_012920.1(MT-CYB):m.618T>C rs1603218460
NC_012920.1(MT-CYB):m.8362T>G rs1603221423
NC_012920.1(MT-ND1):m.3472T>C rs1603218973
NC_012920.1(MT-ND1):m.3995A>G rs1603219246
NC_012920.1(MT-ND5):m.12425del rs1603223730
NC_012920.1(MT-ND5):m.13063G>A rs1603224017
NC_012920.1(MT-TA):m.5613T>C rs2124593028
NC_012920.1(MT-TD):m.7554G>A rs1603221009
NC_012920.1(MT-TD):m.7566G>A rs1603221016
NC_012920.1(MT-TE):m.14680C>A rs2124598415
NC_012920.1(MT-TE):m.14724G>A rs1603224846
NC_012920.1(MT-TF):m.636A>G rs2068676972
NC_012920.1(MT-TH):m.12146A>G rs2124597054
NC_012920.1(MT-TH):m.12187C>A rs2068730503
NC_012920.1(MT-TK):m.8326A>G rs2124594544
NC_012920.1(MT-TK):m.8328G>A rs2124594549
NC_012920.1(MT-TL1):m.3244G>A rs2124591503
NC_012920.1(MT-TL1):m.3264T>C rs1603218861
NC_012920.1(MT-TL2):m.12317T>C rs2124597137
NC_012920.1(MT-TP):m.16023G>A rs55934780
NC_012920.1(MT-TR):m.10437G>A rs2124596177
NC_012920.1(MT-TS1):m.7453G>A rs2068703521
NC_012920.1(MT-TS1):m.7472A>C rs1556423293
NC_012920.1(MT-TS1):m.7501T>A rs1556423303
NC_012920.1(MT-TS2):m.12246C>A rs28508189
NC_012920.1(MT-TV):m.1642G>A rs2124591032
NC_012920.1:m.11467A>G rs2853493
NC_012920.1:m.11778G>A rs199476112
NC_012920.1:m.12271T>C rs1131692061
NC_012920.1:m.12372G>A rs2853499
NC_012920.1:m.13051G>A rs1131692063
NC_012920.1:m.13094T>C rs1603224029
NC_012920.1:m.14484T>C rs199476104
NC_012920.1:m.14597A>G rs797045055
NC_012920.1:m.14692A>G rs879192165
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
NC_012920.1:m.1661A>G rs1057516055
NC_012920.1:m.3243A>G rs199474657
NC_012920.1:m.3291T>C rs869312463
NC_012920.1:m.3460G>A rs199476118
NC_012920.1:m.5631G>A rs786200950
NC_012920.1:m.7443A>G rs397507452
NC_012920.1:m.7445A>G rs199474818
NC_012920.1:m.7445A>T rs199474818
NC_012920.1:m.7462C>T rs1569484151
NC_012920.1:m.7471dup rs111033319
NC_012920.1:m.7505T>C rs724159989
NC_012920.1:m.8418T>C rs1057516062
NC_012920.1:m.8851T>C rs199476136
NC_012920.1:m.8969G>A rs794726857
NC_012920.1:m.8993T>C rs199476133
NC_012920.1:m.8993T>G rs199476133
NC_012920.1:m.9176T>C rs199476135
NC_012920.1:m.9185T>C rs199476138
NC_012920.1:m.9205_9206del rs199476137
NC_012920.1:m.9237G>A rs1057516064
NC_012920.1:m.9478T>C rs587776437
NM_000016.6(ACADM):c.1184A>G (p.Lys395Arg) rs776312173
NM_000016.6(ACADM):c.201T>A (p.Tyr67Ter) rs754833969
NM_000016.6(ACADM):c.218A>C (p.Tyr73Ser) rs1057521114
NM_000016.6(ACADM):c.387+1del rs786204424
NM_000016.6(ACADM):c.709G>T (p.Glu237Ter) rs1570891615
NM_000018.4(ACADVL):c.1292A>G (p.Asp431Gly) rs2142985073
NM_000018.4(ACADVL):c.1322G>C (p.Gly441Ala) rs2309689
NM_000018.4(ACADVL):c.1367G>A (p.Arg456His) rs794727112
NM_000018.4(ACADVL):c.1752-1G>A rs2142990593
NM_000018.4(ACADVL):c.199A>T (p.Lys67Ter) rs765432568
NM_000018.4(ACADVL):c.865G>C (p.Gly289Arg) rs200788251
NM_000019.4(ACAT1):c.286C>T (p.Gln96Ter) rs1233969418
NM_000021.4(PSEN1):c.1133G>A (p.Gly378Glu) rs63750323
NM_000021.4(PSEN1):c.436A>T (p.Met146Leu) rs63750306
NM_000021.4(PSEN1):c.497T>C (p.Leu166Pro) rs63750265
NM_000023.4(SGCA):c.724G>T (p.Val242Phe) rs200166783
NM_000026.2(ADSL):c.[1277G>A;994G>C]
NM_000026.4(ADSL):c.1152CAT[2] (p.Ile386del) rs1601596522
NM_000026.4(ADSL):c.1222C>T (p.Gln408Ter) rs747964752
NM_000026.4(ADSL):c.581G>A (p.Arg194His) rs755359802
NM_000026.4(ADSL):c.725C>T (p.Thr242Ile) rs1601586359
NM_000026.4(ADSL):c.994G>C (p.Asp332His) rs776496275
NM_000030.3(AGXT):c.33dup (p.Lys12fs) rs180177201
NM_000030.3(AGXT):c.683AGA[1] (p.Lys229del) rs1553648979
NM_000033.4(ABCD1):c.1144A>C (p.Thr382Pro) rs1603234466
NM_000033.4(ABCD1):c.1201C>T (p.Arg401Trp) rs727503786
NM_000033.4(ABCD1):c.1430del (p.Glu477fs) rs2148396057
NM_000033.4(ABCD1):c.1489-6del rs398123101
NM_000033.4(ABCD1):c.1501A>T (p.Met501Leu) rs1603235267
NM_000033.4(ABCD1):c.1534G>A (p.Gly512Ser) rs1569541088
NM_000033.4(ABCD1):c.1738_1746del (p.Leu580_Val582del) rs1603235421
NM_000033.4(ABCD1):c.1816T>C (p.Ser606Pro) rs201774661
NM_000033.4(ABCD1):c.1823G>A (p.Gly608Asp) rs78993751
NM_000033.4(ABCD1):c.1853T>C (p.Met618Thr) rs2148399060
NM_000033.4(ABCD1):c.1853del (p.Met618fs) rs1603235941
NM_000033.4(ABCD1):c.1866-10G>A rs398123108
NM_000033.4(ABCD1):c.1880T>C (p.Leu627Pro) rs2148399201
NM_000033.4(ABCD1):c.1886A>T (p.Asp629Val) rs2148399208
NM_000033.4(ABCD1):c.1998C>G (p.Tyr666Ter) rs1170974058
NM_000033.4(ABCD1):c.2128C>T (p.Gln710Ter) rs1479171194
NM_000033.4(ABCD1):c.341T>C (p.Leu114Pro) rs1603231848
NM_000033.4(ABCD1):c.481T>C (p.Ser161Pro) rs2148389260
NM_000033.4(ABCD1):c.521A>G (p.Tyr174Cys) rs1557052390
NM_000033.4(ABCD1):c.878T>C (p.Ile293Thr) rs1603232237
NM_000035.4(ALDOB):c.1005C>G (p.Asn335Lys) rs78340951
NM_000035.4(ALDOB):c.227G>T (p.Gly76Val) rs764779161
NM_000037.4(ANK1):c.*36+989dup rs59908561
NM_000038.5(APC):c.792del (p.Gly265Glufs) rs863224459
NM_000038.6(APC):c.*409_*414dup rs397817775
NM_000038.6(APC):c.1176C>G (p.His392Gln) rs1580530148
NM_000038.6(APC):c.1266G>C (p.Glu422Asp) rs1004279154
NM_000038.6(APC):c.1318G>C (p.Ala440Pro) rs1064793023
NM_000038.6(APC):c.1467_1479del (p.Asn490fs) rs1580565026
NM_000038.6(APC):c.170A>T (p.Asp57Val) rs794729227
NM_000038.6(APC):c.1773C>G (p.Ala591=) rs1580603391
NM_000038.6(APC):c.1798del (p.Thr600fs) rs2149841625
NM_000038.6(APC):c.1864T>C (p.Tyr622His) rs1561568794
NM_000038.6(APC):c.1886T>A (p.Leu629Ter) rs1019221239
NM_000038.6(APC):c.1895_1958+28del rs1561569140
NM_000038.6(APC):c.2254C>G (p.Leu752Val) rs1561575778
NM_000038.6(APC):c.2281G>C (p.Glu761Gln) rs1580620124
NM_000038.6(APC):c.2334_2337del (p.Asn778fs) rs1580620655
NM_000038.6(APC):c.2357G>A (p.Arg786His) rs1554084088
NM_000038.6(APC):c.2360G>A (p.Ser787Asn) rs910898245
NM_000038.6(APC):c.2385_2386del (p.Tyr796fs) rs1561576666
NM_000038.6(APC):c.2437A>C (p.Asn813His) rs1580622204
NM_000038.6(APC):c.2623A>G (p.Lys875Glu) rs1580624931
NM_000038.6(APC):c.2650G>A (p.Ala884Thr) rs863224540
NM_000038.6(APC):c.2692C>T (p.His898Tyr) rs758712508
NM_000038.6(APC):c.2776T>A (p.Ser926Thr) rs1580626857
NM_000038.6(APC):c.278T>A (p.Leu93His) rs876658977
NM_000038.6(APC):c.280C>G (p.Arg94Gly) rs550945533
NM_000038.6(APC):c.2812A>G (p.Thr938Ala) rs965844436
NM_000038.6(APC):c.2995C>G (p.Gln999Glu) rs75239284
NM_000038.6(APC):c.3029G>A (p.Ser1010Asn) rs864622584
NM_000038.6(APC):c.302G>A (p.Gly101Glu) rs954713888
NM_000038.6(APC):c.3065A>G (p.Asp1022Gly) rs1765328779
NM_000038.6(APC):c.3183_3187del (p.Lys1061_Gln1062insTer) rs587779352
NM_000038.6(APC):c.3275A>C (p.His1092Pro) rs587779788
NM_000038.6(APC):c.3319G>T (p.Ala1107Ser) rs1060503283
NM_000038.6(APC):c.331A>G (p.Ser111Gly) rs1580328938
NM_000038.6(APC):c.3374dup (p.Ser1126fs) rs1561584336
NM_000038.6(APC):c.3425A>G (p.Asn1142Ser) rs138410865
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.4124A>C (p.His1375Pro) rs750884499
NM_000038.6(APC):c.412G>T (p.Glu138Ter) rs1756477033
NM_000038.6(APC):c.4162A>G (p.Thr1388Ala) rs1269810575
NM_000038.6(APC):c.4203dup (p.Ala1402fs) rs1580645285
NM_000038.6(APC):c.423-3T>A rs587782293
NM_000038.6(APC):c.423-4dup rs730881230
NM_000038.6(APC):c.424T>A (p.Ser142Thr) rs1311934641
NM_000038.6(APC):c.430C>T (p.Leu144Phe) rs2149614495
NM_000038.6(APC):c.4325CTC[1] (p.Pro1443del) rs1064793557
NM_000038.6(APC):c.4349G>T (p.Arg1450Leu) rs587782678
NM_000038.6(APC):c.4434_4437del (p.Arg1478fs) rs2149914657
NM_000038.6(APC):c.4435G>C (p.Val1479Leu) rs1060503271
NM_000038.6(APC):c.4483dup (p.Ser1495fs) rs1580648665
NM_000038.6(APC):c.4501del (p.Ser1501fs) rs1580648975
NM_000038.6(APC):c.4556A>G (p.Asp1519Gly) rs1245649089
NM_000038.6(APC):c.4583T>C (p.Val1528Ala) rs1561593719
NM_000038.6(APC):c.4702GAT[3] (p.Asp1571del) rs587782888
NM_000038.6(APC):c.4765C>G (p.Arg1589Gly) rs72541813
NM_000038.6(APC):c.4805C>A (p.Pro1602His) rs1580652844
NM_000038.6(APC):c.4813G>A (p.Val1605Met) rs1554086219
NM_000038.6(APC):c.4856C>A (p.Pro1619Gln) rs952674488
NM_000038.6(APC):c.4987G>A (p.Glu1663Lys) rs758987855
NM_000038.6(APC):c.4994C>A (p.Pro1665His) rs1176817504
NM_000038.6(APC):c.5020G>A (p.Gly1674Arg) rs899555020
NM_000038.6(APC):c.5038C>G (p.Gln1680Glu) rs754122018
NM_000038.6(APC):c.5092G>A (p.Asp1698Asn) rs745542459
NM_000038.6(APC):c.5357G>C (p.Arg1786Thr) rs944674770
NM_000038.6(APC):c.5576A>G (p.Asn1859Ser) rs876658164
NM_000038.6(APC):c.557G>C (p.Arg186Thr) rs1561485438
NM_000038.6(APC):c.5624C>G (p.Ser1875Cys) rs1460643869
NM_000038.6(APC):c.5723A>G (p.Asn1908Ser) rs1064795748
NM_000038.6(APC):c.5741C>T (p.Ala1914Val) rs199904481
NM_000038.6(APC):c.5860T>G (p.Phe1954Val) rs2149951105
NM_000038.6(APC):c.5942A>G (p.Asn1981Ser) rs1233897262
NM_000038.6(APC):c.6287C>G (p.Ser2096Ter) rs1561606344
NM_000038.6(APC):c.6299A>G (p.Asp2100Gly) rs2149961764
NM_000038.6(APC):c.6326A>G (p.Asn2109Ser) rs774352590
NM_000038.6(APC):c.6374C>T (p.Ser2125Phe) rs759624605
NM_000038.6(APC):c.645+2T>C rs786202351
NM_000038.6(APC):c.6460C>A (p.Gln2154Lys) rs1003613894
NM_000038.6(APC):c.6577A>C (p.Lys2193Gln) rs1060503343
NM_000038.6(APC):c.6580G>A (p.Val2194Ile) rs1554087547
NM_000038.6(APC):c.6620C>T (p.Ser2207Leu) rs758337476
NM_000038.6(APC):c.6699T>G (p.Ile2233Met) rs1057521840
NM_000038.6(APC):c.673G>C (p.Glu225Gln) rs768233232
NM_000038.6(APC):c.6880G>A (p.Gly2294Arg) rs1019564963
NM_000038.6(APC):c.7089A>G (p.Lys2363=) rs864622761
NM_000038.6(APC):c.7193C>A (p.Ser2398Tyr) rs150882838
NM_000038.6(APC):c.7391C>G (p.Ser2464Cys) rs766473931
NM_000038.6(APC):c.7519C>T (p.Leu2507Phe) rs1561616229
NM_000038.6(APC):c.7604G>A (p.Ser2535Asn) rs1355563057
NM_000038.6(APC):c.7618C>G (p.Pro2540Ala) rs1554088531
NM_000038.6(APC):c.7639T>G (p.Trp2547Gly) rs1476294154
NM_000038.6(APC):c.7793C>T (p.Thr2598Ile) rs747339588
NM_000038.6(APC):c.7844T>C (p.Ile2615Thr) rs1317953419
NM_000038.6(APC):c.7942G>A (p.Ala2648Thr) rs1195417407
NM_000038.6(APC):c.8023C>T (p.Pro2675Ser) rs1561619997
NM_000038.6(APC):c.8038C>A (p.Pro2680Thr) rs587780553
NM_000038.6(APC):c.807C>T (p.Ile269=) rs1000878850
NM_000038.6(APC):c.8206A>G (p.Thr2736Ala) rs1766677689
NM_000038.6(APC):c.8250G>C (p.Glu2750Asp) rs767530768
NM_000038.6(APC):c.8281C>T (p.Pro2761Ser) rs1060503332
NM_000038.6(APC):c.833_834insT (p.Gln278fs) rs2149712600
NM_000038.6(APC):c.8398G>T (p.Ala2800Ser) rs1554089100
NM_000038.6(APC):c.8430T>A (p.Asn2810Lys) rs1057522374
NM_000038.6(APC):c.878G>A (p.Ser293Asn) rs1040502776
NM_000038.6(APC):c.899C>T (p.Ala300Val) rs1561535584
NM_000038.6(APC):c.904C>T (p.Arg302Ter) rs137854568
NM_000038.6(APC):c.905G>A (p.Arg302Gln) rs764841552
NM_000043.6(FAS):c.178del (p.His60fs) rs1589465172
NM_000043.6(FAS):c.415del (p.Val139fs) rs1589478691
NM_000043.6(FAS):c.651+2_651+3insTGAAAT rs1589485636
NM_000043.6(FAS):c.725T>C (p.Leu242Pro) rs764567970
NM_000043.6(FAS):c.748C>T (p.Arg250Ter) rs778993919
NM_000044.6(AR):c.1025C>T (p.Pro342Leu) rs138454018
NM_000044.6(AR):c.161TGC[5] (p.Leu57dup) rs752055010
NM_000044.6(AR):c.171GCA[24] (p.Gln80dup) rs3032358
NM_000045.4(ARG1):c.317G>A (p.Gly106Glu) rs1441486160
NM_000045.4(ARG1):c.404C>T (p.Thr135Ile) rs1451472748
NM_000045.4(ARG1):c.646_649del (p.Leu216fs) rs756080885
NM_000046.5(ARSB):c.1534_1556del (p.Val512fs) rs1310996698
NM_000046.5(ARSB):c.345G>A (p.Trp115Ter) rs2112530498
NM_000046.5(ARSB):c.427del (p.Val143fs) rs766914147
NM_000046.5(ARSB):c.899-5T>C rs1172834965
NM_000046.5(ARSB):c.959G>T (p.Ser320Ile) rs2112211996
NM_000047.3(ARSL):c.-14GA[6] rs200332753
NM_000048.4(ASL):c.299T>A (p.Ile100Asn) rs202142867
NM_000051.3(ATM):c.-328A>T rs4987880
NM_000051.4(ATM):c.-15C>T rs1204830852
NM_000051.4(ATM):c.103C>T (p.Arg35Ter) rs55861249
NM_000051.4(ATM):c.1065+1G>T rs201089102
NM_000051.4(ATM):c.1082C>A (p.Thr361Asn) rs1565378803
NM_000051.4(ATM):c.1106C>T (p.Ser369Phe) rs762557654
NM_000051.4(ATM):c.1236-10_1236-3dup rs34325032
NM_000051.4(ATM):c.1236-1G>T rs1408719214
NM_000051.4(ATM):c.1236-1_1237del rs1591522664
NM_000051.4(ATM):c.1236-2A>G rs80159221
NM_000051.4(ATM):c.1236-2_1236-1del rs1591522638
NM_000051.4(ATM):c.1236-2_1236del rs1591522646
NM_000051.4(ATM):c.1236-2_1237del rs1591522650
NM_000051.4(ATM):c.1236-3del rs34325032
NM_000051.4(ATM):c.1236G>T (p.Trp412Cys) rs79220522
NM_000051.4(ATM):c.1236_1237insTT (p.Leu413fs) rs1591522681
NM_000051.4(ATM):c.1236_1237insTTTT (p.Leu413fs) rs1591522681
NM_000051.4(ATM):c.1238_1239insTTT (p.Leu413dup) rs1420011788
NM_000051.4(ATM):c.1238_1239insTTTT (p.Gln414fs) rs1420011788
NM_000051.4(ATM):c.1240C>A (p.Gln414Lys) rs866521873
NM_000051.4(ATM):c.1240C>T (p.Gln414Ter) rs866521873
NM_000051.4(ATM):c.1243A>T (p.Ile415Phe) rs1591522756
NM_000051.4(ATM):c.1245_1246insTTTTTT (p.Ile415_Ala416insPhePhe) rs1591522786
NM_000051.4(ATM):c.1273G>T (p.Ala425Ser) rs769214234
NM_000051.4(ATM):c.1274C>A (p.Ala425Glu) rs1301649540
NM_000051.4(ATM):c.1300C>G (p.Pro434Ala) rs1064795171
NM_000051.4(ATM):c.1358C>T (p.Pro453Leu) rs786204124
NM_000051.4(ATM):c.1370G>A (p.Arg457Gln) rs780097986
NM_000051.4(ATM):c.1483A>G (p.Ile495Val) rs786201969
NM_000051.4(ATM):c.1495C>T (p.Gln499Ter) rs1555071075
NM_000051.4(ATM):c.1520T>A (p.Leu507Ter) rs2135325561
NM_000051.4(ATM):c.1745_1749del (p.Phe582fs) rs1565385883
NM_000051.4(ATM):c.1825G>C (p.Glu609Gln) rs779780896
NM_000051.4(ATM):c.1900G>C (p.Glu634Gln) rs2135365529
NM_000051.4(ATM):c.2068C>A (p.Leu690Met) rs1555073437
NM_000051.4(ATM):c.2124+5G>A rs1565390942
NM_000051.4(ATM):c.2134T>G (p.Ser712Ala) rs1565394509
NM_000051.4(ATM):c.2182T>A (p.Cys728Ser) rs1565394820
NM_000051.4(ATM):c.2254C>G (p.Leu752Val) rs756522395
NM_000051.4(ATM):c.2376+9TTC[2] rs757318914
NM_000051.4(ATM):c.2466+5G>T rs1064795969
NM_000051.4(ATM):c.2467-90C>T rs2135503255
NM_000051.4(ATM):c.2476A>G (p.Ile826Val) rs587782397
NM_000051.4(ATM):c.2486C>A (p.Pro829Gln) rs1565416001
NM_000051.4(ATM):c.2533A>C (p.Asn845His) rs1591587679
NM_000051.4(ATM):c.2542G>C (p.Glu848Gln) rs879254046
NM_000051.4(ATM):c.2593A>C (p.Ser865Arg) rs2081310612
NM_000051.4(ATM):c.2612A>G (p.Glu871Gly) rs2081311812
NM_000051.4(ATM):c.2621A>G (p.Glu874Gly) rs1555082338
NM_000051.4(ATM):c.2639-21A>G rs2135522420
NM_000051.4(ATM):c.2657C>G (p.Ala886Gly) rs2081381149
NM_000051.4(ATM):c.2819A>C (p.Lys940Thr) rs762078586
NM_000051.4(ATM):c.2921+4A>C rs1565424660
NM_000051.4(ATM):c.2922-8del rs373881770
NM_000051.4(ATM):c.2945G>A (p.Arg982His) rs749471737
NM_000051.4(ATM):c.3143C>T (p.Thr1048Ile) rs1565427949
NM_000051.4(ATM):c.3146T>C (p.Leu1049Ser) rs1373504805
NM_000051.4(ATM):c.3272_3273del (p.Glu1091fs) rs1565429102
NM_000051.4(ATM):c.3293A>G (p.Gln1098Arg) rs1060501590
NM_000051.4(ATM):c.3346C>T (p.Gln1116Ter) rs2135644009
NM_000051.4(ATM):c.3353C>T (p.Thr1118Ile) rs539847847
NM_000051.4(ATM):c.3398A>T (p.Glu1133Val) rs1565439583
NM_000051.4(ATM):c.3403-13A>T rs1591636037
NM_000051.4(ATM):c.3403-9C>T rs375483605
NM_000051.4(ATM):c.3435del (p.Asp1145fs) rs1591636349
NM_000051.4(ATM):c.3485T>G (p.Leu1162Ter) rs1591636613
NM_000051.4(ATM):c.3577-30C>T rs751436997
NM_000051.4(ATM):c.3695C>G (p.Ser1232Cys) rs367603277
NM_000051.4(ATM):c.3783T>G (p.Ile1261Met) rs1005444925
NM_000051.4(ATM):c.3802del (p.Glu1267_Val1268insTer) rs587779834
NM_000051.4(ATM):c.3872T>C (p.Leu1291Pro) rs1555093536
NM_000051.4(ATM):c.3934A>G (p.Arg1312Gly) rs864622137
NM_000051.4(ATM):c.403G>A (p.Ala135Thr) rs1272089657
NM_000051.4(ATM):c.4070C>G (p.Ser1357Cys) rs730881390
NM_000051.4(ATM):c.4109+8C>T rs1591656404
NM_000051.4(ATM):c.4114T>G (p.Leu1372Val) rs762242838
NM_000051.4(ATM):c.4130A>G (p.Asn1377Ser) rs1565454896
NM_000051.4(ATM):c.4236+7A>G rs1207435429
NM_000051.4(ATM):c.4396C>T (p.Arg1466Ter) rs730881369
NM_000051.4(ATM):c.4411A>G (p.Thr1471Ala) rs2082684549
NM_000051.4(ATM):c.4534G>A (p.Ala1512Thr) rs1060501653
NM_000051.4(ATM):c.4587T>G (p.Tyr1529Ter) rs1555100005
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.4664T>A (p.Leu1555His) rs1060501524
NM_000051.4(ATM):c.4775A>G (p.Glu1592Gly) rs1565463405
NM_000051.4(ATM):c.4776+2T>C rs587781927
NM_000051.4(ATM):c.4777-6T>C rs1565465980
NM_000051.4(ATM):c.4787A>G (p.His1596Arg) rs2135833806
NM_000051.4(ATM):c.4910-1G>C rs1060501706
NM_000051.4(ATM):c.497-1G>T rs778624615
NM_000051.4(ATM):c.497-2A>T rs1278985870
NM_000051.4(ATM):c.497-2_498del rs1591499502
NM_000051.4(ATM):c.497-3_498del rs1205233530
NM_000051.4(ATM):c.4980C>A (p.Asn1660Lys) rs144338238
NM_000051.4(ATM):c.498A>T (p.Glu166Asp) rs587779842
NM_000051.4(ATM):c.501G>T (p.Leu167Phe) rs1181703620
NM_000051.4(ATM):c.504C>T (p.Phe168=) rs1060504312
NM_000051.4(ATM):c.5053A>G (p.Thr1685Ala) rs879254205
NM_000051.4(ATM):c.506C>T (p.Ser169Phe) rs587779843
NM_000051.4(ATM):c.512A>T (p.Tyr171Phe) rs1060501616
NM_000051.4(ATM):c.5132C>A (p.Thr1711Asn) rs1291016764
NM_000051.4(ATM):c.513C>T (p.Tyr171=) rs786201693
NM_000051.4(ATM):c.5160C>A (p.Asn1720Lys) rs1565474287
NM_000051.4(ATM):c.520C>T (p.Leu174Phe) rs1565369274
NM_000051.4(ATM):c.5258A>G (p.Tyr1753Cys) rs777481236
NM_000051.4(ATM):c.5306C>A (p.Thr1769Lys) rs1192250974
NM_000051.4(ATM):c.5309C>A (p.Ser1770Ter) rs121434223
NM_000051.4(ATM):c.5312G>A (p.Arg1771Lys) rs1416930012
NM_000051.4(ATM):c.5462G>T (p.Cys1821Phe) rs1565479431
NM_000051.4(ATM):c.5535G>C (p.Leu1845Phe) rs2135943227
NM_000051.4(ATM):c.5576G>A (p.Arg1859Lys) rs1060501568
NM_000051.4(ATM):c.5584C>T (p.Leu1862Phe) rs149362482
NM_000051.4(ATM):c.55A>G (p.Arg19Gly) rs1565344118
NM_000051.4(ATM):c.5605T>C (p.Phe1869Leu) rs975721205
NM_000051.4(ATM):c.5624G>A (p.Arg1875Gln) rs762304746
NM_000051.4(ATM):c.5639C>A (p.Thr1880Lys) rs587780628
NM_000051.4(ATM):c.5712dup (p.Ser1905fs) rs587781730
NM_000051.4(ATM):c.5715A>G (p.Ser1905=) rs1057524579
NM_000051.4(ATM):c.5757_5761del (p.Lys1920fs) rs1591732424
NM_000051.4(ATM):c.5761A>G (p.Arg1921Gly) rs1060501527
NM_000051.4(ATM):c.5899A>G (p.Met1967Val) rs1060501541
NM_000051.4(ATM):c.5966T>G (p.Leu1989Trp) rs1565493603
NM_000051.4(ATM):c.5977_5978insAAAAAAAAA (p.Lys1992_Ser1993insLysLysLys) rs1591758642
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.6092C>T (p.Thr2031Ile) rs1555113613
NM_000051.4(ATM):c.610G>T (p.Gly204Ter) rs147915571
NM_000051.4(ATM):c.6185C>A (p.Ala2062Glu) rs1565499989
NM_000051.4(ATM):c.6217C>T (p.Leu2073Phe) rs767406075
NM_000051.4(ATM):c.6260A>G (p.Glu2087Gly) rs1565503023
NM_000051.4(ATM):c.6280del (p.Glu2094fs) rs1565503198
NM_000051.4(ATM):c.6347+31del rs58978479
NM_000051.4(ATM):c.6348-1G>A rs1057517302
NM_000051.4(ATM):c.6348-9A>T rs1591099349
NM_000051.4(ATM):c.6355G>T (p.Val2119Leu) rs1266938537
NM_000051.4(ATM):c.6404dup (p.Arg2136fs) rs587782554
NM_000051.4(ATM):c.640del (p.Ser214fs) rs786204543
NM_000051.4(ATM):c.6493T>A (p.Ser2165Thr) rs1555117132
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.6575C>G (p.Ser2192Ter) rs2136306738
NM_000051.4(ATM):c.6677T>C (p.Leu2226Pro) rs1565518489
NM_000051.4(ATM):c.6689T>C (p.Ile2230Thr) rs587781562
NM_000051.4(ATM):c.6825A>G (p.Ile2275Met) rs1591133274
NM_000051.4(ATM):c.6860G>A (p.Gly2287Glu) rs1800061
NM_000051.4(ATM):c.6897C>G (p.Phe2299Leu) rs777164914
NM_000051.4(ATM):c.68G>A (p.Arg23Gln) rs587779858
NM_000051.4(ATM):c.6975G>A (p.Ala2325=) rs556778314
NM_000051.4(ATM):c.6987C>G (p.Ser2329Arg) rs1591142078
NM_000051.4(ATM):c.6998C>T (p.Thr2333Ile) rs150503164
NM_000051.4(ATM):c.7037C>T (p.Ala2346Val) rs2085819145
NM_000051.4(ATM):c.7061C>T (p.Ala2354Val) rs1555121079
NM_000051.4(ATM):c.7166C>A (p.Ser2389Ter) rs1018140779
NM_000051.4(ATM):c.7202T>C (p.Ile2401Thr) rs1555122117
NM_000051.4(ATM):c.7223C>G (p.Ser2408Trp) rs730881315
NM_000051.4(ATM):c.7234A>G (p.Asn2412Asp) rs2085991994
NM_000051.4(ATM):c.7248C>T (p.Leu2416=) rs750513866
NM_000051.4(ATM):c.7262A>C (p.Lys2421Thr) rs1360453074
NM_000051.4(ATM):c.7269A>T (p.Glu2423Asp) rs864622471
NM_000051.4(ATM):c.7273G>A (p.Gly2425Ser) rs2136421981
NM_000051.4(ATM):c.7375C>G (p.Arg2459Gly) rs730881383
NM_000051.4(ATM):c.7408T>G (p.Tyr2470Asp) rs876659365
NM_000051.4(ATM):c.748C>T (p.Arg250Ter) rs772821016
NM_000051.4(ATM):c.7542_7543del (p.Tyr2514_Lys2515delinsTer) rs1555123981
NM_000051.4(ATM):c.7595T>C (p.Met2532Thr) rs765654550
NM_000051.4(ATM):c.75A>G (p.Lys25=) rs1591446716
NM_000051.4(ATM):c.7629+12_7629+15del rs1555124156
NM_000051.4(ATM):c.7630-29G>T rs1591170490
NM_000051.4(ATM):c.7630-37G>T rs1591170392
NM_000051.4(ATM):c.7696G>A (p.Ala2566Thr) rs1060501604
NM_000051.4(ATM):c.7789-15G>T rs781449587
NM_000051.4(ATM):c.7789-3T>G rs864622185
NM_000051.4(ATM):c.7789-8A>T rs1591177900
NM_000051.4(ATM):c.7875_7876delinsGC (p.Asp2625_Ala2626delinsGluPro) rs267606668
NM_000051.4(ATM):c.7886_7890del (p.Ile2629fs) rs1450394308
NM_000051.4(ATM):c.7907C>T (p.Thr2636Ile) rs2086428372
NM_000051.4(ATM):c.7917G>C (p.Lys2639Asn) rs1555125501
NM_000051.4(ATM):c.7942C>A (p.Pro2648Thr) rs878853547
NM_000051.4(ATM):c.795T>G (p.Ile265Met) rs1290222131
NM_000051.4(ATM):c.7966C>G (p.Leu2656Val) rs1591184384
NM_000051.4(ATM):c.8010+1del rs876659350
NM_000051.4(ATM):c.8066A>G (p.Glu2689Gly) rs759779781
NM_000051.4(ATM):c.8122G>A (p.Asp2708Asn) rs587782719
NM_000051.4(ATM):c.8152-1G>T rs1398616877
NM_000051.4(ATM):c.8268+1G>T rs876658957
NM_000051.4(ATM):c.8292_8293del (p.Ser2764fs) rs879254036
NM_000051.4(ATM):c.8313A>C (p.Thr2771=) rs1555135563
NM_000051.4(ATM):c.8473_8479del (p.Gln2825fs) rs2137028850
NM_000051.4(ATM):c.8484del (p.Gln2828fs) rs1565563579
NM_000051.4(ATM):c.8585-2A>C rs1060501700
NM_000051.4(ATM):c.865A>G (p.Ile289Val) rs1555067259
NM_000051.4(ATM):c.8790C>G (p.Cys2930Trp) rs1565582275
NM_000051.4(ATM):c.8843T>C (p.Ile2948Thr) rs876659516
NM_000051.4(ATM):c.8846T>C (p.Val2949Ala) rs2089701066
NM_000051.4(ATM):c.8867C>T (p.Pro2956Leu) rs1555151244
NM_000051.4(ATM):c.8893T>C (p.Leu2965=) rs1060504287
NM_000051.4(ATM):c.8923G>T (p.Glu2975Ter) rs2091208125
NM_000051.4(ATM):c.8942A>G (p.His2981Arg) rs750441954
NM_000051.4(ATM):c.8988-1G>A rs730881386
NM_000051.4(ATM):c.9079dup (p.Ser3027fs) rs587780645
NM_000051.4(ATM):c.9112C>A (p.Gln3038Lys) rs1591387978
NM_000051.4(ATM):c.9146del (p.Phe3049fs) rs1555152058
NM_000051.4(ATM):c.9164G>C (p.Trp3055Ser) rs2137930567
NM_000051.4(ATM):c.969A>G (p.Ile323Met) rs1565375220
NM_000052.7(ATP7A):c.1668_1680del (p.Ile556fs) rs2149090269
NM_000052.7(ATP7A):c.1856T>C (p.Ile619Thr) rs1569549841
NM_000052.7(ATP7A):c.1947-1G>A rs794729231
NM_000052.7(ATP7A):c.2180G>A (p.Gly727Glu) rs2149095964
NM_000052.7(ATP7A):c.2836_2837del (p.Val946fs) rs1603387278
NM_000052.7(ATP7A):c.2916+3A>T rs2149100212
NM_000052.7(ATP7A):c.3132T>C (p.Asp1044=) rs797045370
NM_000052.7(ATP7A):c.3278C>T (p.Thr1093Ile) rs996808810
NM_000052.7(ATP7A):c.3659-1G>A rs2149110457
NM_000052.7(ATP7A):c.3802-1G>A rs398123135
NM_000052.7(ATP7A):c.3871G>A (p.Glu1291Lys) rs999014839
NM_000052.7(ATP7A):c.3913G>A (p.Asp1305Asn) rs1603391127
NM_000052.7(ATP7A):c.437del (p.Leu146fs) rs2149082699
NM_000053.4(ATP7B):c.1389_1405del (p.Gly464fs) rs1593775055
NM_000053.4(ATP7B):c.2304del (p.Met769fs) rs137853287
NM_000053.4(ATP7B):c.2575+1G>A rs766149114
NM_000053.4(ATP7B):c.2795C>A (p.Ser932Ter) rs1566498495
NM_000053.4(ATP7B):c.3061-12T>A rs1045194246
NM_000053.4(ATP7B):c.3341C>T (p.Ala1114Val) rs2138850408
NM_000053.4(ATP7B):c.3548C>G (p.Ala1183Gly) rs587783315
NM_000053.4(ATP7B):c.3809A>T (p.Asn1270Ile) rs121907990
NM_000053.4(ATP7B):c.3887A>G (p.Asp1296Gly) rs1593645393
NM_000053.4(ATP7B):c.4388A>G (p.Gln1463Arg) rs202131204
NM_000054.7(AVPR2):c.191GGCGGGGCC[1] (p.64RRG[1]) rs782292545
NM_000054.7(AVPR2):c.382_384del (p.Tyr128del) rs1557100594
NM_000054.7(AVPR2):c.744_755del (p.Arg249_Arg252del) rs782681085
NM_000054.7(AVPR2):c.816G>A (p.Met272Ile) rs1603282342
NM_000057.4(BLM):c.1043dup (p.Met348fs) rs1567038003
NM_000057.4(BLM):c.1087+47T>C rs1299860709
NM_000057.4(BLM):c.1088-35C>T rs1359919212
NM_000057.4(BLM):c.1088-38C>T rs758949040
NM_000057.4(BLM):c.1088-39C>T rs878957002
NM_000057.4(BLM):c.1147A>G (p.Ile383Val) rs1895933936
NM_000057.4(BLM):c.1197A>T (p.Glu399Asp) rs1596228991
NM_000057.4(BLM):c.1216A>G (p.Ile406Val) rs769498398
NM_000057.4(BLM):c.1228C>T (p.Leu410Phe) rs200688933
NM_000057.4(BLM):c.1317G>T (p.Met439Ile) rs1450277471
NM_000057.4(BLM):c.1469C>G (p.Pro490Arg) rs878853553
NM_000057.4(BLM):c.1481C>T (p.Thr494Ile) rs751600686
NM_000057.4(BLM):c.14C>T (p.Pro5Leu) rs1567034056
NM_000057.4(BLM):c.1632_1635del (p.Arg545fs) rs1205301894
NM_000057.4(BLM):c.1840G>A (p.Ala614Thr) rs1895978868
NM_000057.4(BLM):c.1888T>C (p.Ser630Pro) rs1567042153
NM_000057.4(BLM):c.1934A>G (p.Gln645Arg) rs377563699
NM_000057.4(BLM):c.1972A>G (p.Ile658Val) rs1567042248
NM_000057.4(BLM):c.199G>A (p.Val67Ile) rs991350762
NM_000057.4(BLM):c.2005A>T (p.Arg669Ter) rs1596232266
NM_000057.4(BLM):c.205G>A (p.Glu69Lys) rs746195311
NM_000057.4(BLM):c.2074+56G>A rs942432763
NM_000057.4(BLM):c.2141C>G (p.Ser714Cys)
NM_000057.4(BLM):c.2207_2212delinsTAGATTC (p.Tyr736fs) rs113993962
NM_000057.4(BLM):c.2268del (p.Asp757fs) rs747341586
NM_000057.4(BLM):c.2362C>G (p.Leu788Val) rs149754073
NM_000057.4(BLM):c.241A>G (p.Thr81Ala) rs1060500637
NM_000057.4(BLM):c.2556-8T>C rs1567052156
NM_000057.4(BLM):c.2570T>C (p.Phe857Ser) rs1567052169
NM_000057.4(BLM):c.2576_2577del (p.Arg859fs) rs1567052178
NM_000057.4(BLM):c.2662+9A>G rs2151178205
NM_000057.4(BLM):c.2663-2A>G rs1567053170
NM_000057.4(BLM):c.2962C>T (p.His988Tyr) rs1896886993
NM_000057.4(BLM):c.298_299del (p.Gln100fs) rs745807085
NM_000057.4(BLM):c.3065A>C (p.Asn1022Thr) rs1567058281
NM_000057.4(BLM):c.3163dup (p.Cys1055fs) rs2151187381
NM_000057.4(BLM):c.3164G>A (p.Cys1055Tyr) rs367543029
NM_000057.4(BLM):c.3164G>C (p.Cys1055Ser) rs367543029
NM_000057.4(BLM):c.3340C>T (p.Leu1114=) rs1567060305
NM_000057.4(BLM):c.3587del (p.Ser1196fs) rs367543018
NM_000057.4(BLM):c.3992G>A (p.Arg1331Lys) rs1060500648
NM_000057.4(BLM):c.4148C>G (p.Ser1383Ter) rs1567068960
NM_000057.4(BLM):c.4196T>C (p.Met1399Thr) rs1567069030
NM_000057.4(BLM):c.532G>A (p.Val178Ile) rs1191794374
NM_000057.4(BLM):c.543C>A (p.Ser181Arg) rs761288442
NM_000057.4(BLM):c.615G>C (p.Lys205Asn) rs28903082
NM_000057.4(BLM):c.645C>G (p.Ser215Arg) rs56218710
NM_000057.4(BLM):c.813GAA[2] (p.Lys273del) rs587779895
NM_000057.4(BLM):c.842A>G (p.His281Arg) rs202042636
NM_000057.4(BLM):c.976G>A (p.Asp326Asn) rs1013220474
NM_000059.3(BRCA2):c.-200C>G rs1026273725
NM_000059.3(BRCA2):c.2808_2811del (p.Ala938Profs) rs80359351
NM_000059.4(BRCA2):c.*838_*839del rs75353978
NM_000059.4(BRCA2):c.-174T>G rs1593879677
NM_000059.4(BRCA2):c.-179_-169dup rs1484668823
NM_000059.4(BRCA2):c.-39-5del rs276174800
NM_000059.4(BRCA2):c.10091_10092del (p.Ser3364fs) rs80359257
NM_000059.4(BRCA2):c.10094_10095insGAATTATAT (p.Val3365_Ser3366insAsnTyrIle) rs758307938
NM_000059.4(BRCA2):c.10131A>C (p.Glu3377Asp) rs1064793835
NM_000059.4(BRCA2):c.10248dup (p.Tyr3417fs) rs776212316
NM_000059.4(BRCA2):c.10250A>G (p.Tyr3417Cys) rs730881600
NM_000059.4(BRCA2):c.103C>T (p.Leu35Phe) rs1446479156
NM_000059.4(BRCA2):c.1045A>G (p.Lys349Glu) rs2072403180
NM_000059.4(BRCA2):c.1153A>G (p.Lys385Glu) rs80358411
NM_000059.4(BRCA2):c.1211A>G (p.Asn404Ser) rs80358414
NM_000059.4(BRCA2):c.122C>T (p.Pro41Leu) rs786201716
NM_000059.4(BRCA2):c.1247T>G (p.Ile416Ser) rs80358418
NM_000059.4(BRCA2):c.1278del (p.Asp427fs) rs80359274
NM_000059.4(BRCA2):c.1303_1307del (p.Arg435fs) rs1593892461
NM_000059.4(BRCA2):c.1471A>G (p.Thr491Ala) rs1566223650
NM_000059.4(BRCA2):c.1483G>A (p.Ala495Thr) rs80358437
NM_000059.4(BRCA2):c.1495C>T (p.Gln499Ter) rs1566223700
NM_000059.4(BRCA2):c.1504A>C (p.Lys502Gln) rs276174809
NM_000059.4(BRCA2):c.1714G>A (p.Val572Ile) rs587782713
NM_000059.4(BRCA2):c.1714G>C (p.Val572Leu) rs587782713
NM_000059.4(BRCA2):c.1730C>T (p.Ala577Val) rs876661280
NM_000059.4(BRCA2):c.1813del (p.Ile605fs) rs80359306
NM_000059.4(BRCA2):c.1813dup (p.Ile605fs) rs80359306
NM_000059.4(BRCA2):c.1909+22del rs276174816
NM_000059.4(BRCA2):c.1909+22dup rs276174816
NM_000059.4(BRCA2):c.1909+9_1909+10del rs527732001
NM_000059.4(BRCA2):c.1910-46T>G rs1593895720
NM_000059.4(BRCA2):c.1953T>G (p.Asp651Glu) rs771442178
NM_000059.4(BRCA2):c.1964del (p.Pro655fs) rs1555282375
NM_000059.4(BRCA2):c.2054A>T (p.Asp685Val) rs1555282420
NM_000059.4(BRCA2):c.2167_2168del (p.Ser723fs) rs1593896252
NM_000059.4(BRCA2):c.2167_2169delinsCT (p.Ser723fs) rs1566226235
NM_000059.4(BRCA2):c.2169_2170insT (p.Lys724Ter) rs1593896259
NM_000059.4(BRCA2):c.2245A>G (p.Ser749Gly) rs80358495
NM_000059.4(BRCA2):c.2281T>C (p.Tyr761His) rs80358499
NM_000059.4(BRCA2):c.2321C>T (p.Thr774Ile) rs1239876081
NM_000059.4(BRCA2):c.2376C>G (p.Tyr792Ter) rs80358503
NM_000059.4(BRCA2):c.2405A>G (p.Asn802Ser) rs876661089
NM_000059.4(BRCA2):c.241T>A (p.Phe81Ile) rs80358507
NM_000059.4(BRCA2):c.247G>C (p.Glu83Gln) rs886040428
NM_000059.4(BRCA2):c.2512A>T (p.Lys838Ter) rs747578057
NM_000059.4(BRCA2):c.2560A>G (p.Asn854Asp) rs1413706911
NM_000059.4(BRCA2):c.2568T>A (p.Asn856Lys) rs1166285186
NM_000059.4(BRCA2):c.2576T>C (p.Val859Ala) rs1566226964
NM_000059.4(BRCA2):c.2621_2622insG (p.Val875fs) rs1555282757
NM_000059.4(BRCA2):c.2803G>C (p.Asp935His) rs28897716
NM_000059.4(BRCA2):c.2827A>G (p.Ile943Val) rs397507294
NM_000059.4(BRCA2):c.289G>T (p.Glu97Ter) rs397507646
NM_000059.4(BRCA2):c.2958del (p.Asn986fs) rs1593898209
NM_000059.4(BRCA2):c.2998A>C (p.Ile1000Leu) rs1555282999
NM_000059.4(BRCA2):c.3074del (p.Lys1025fs) rs2137492902
NM_000059.4(BRCA2):c.3152T>C (p.Leu1051Ser) rs778281493
NM_000059.4(BRCA2):c.316+5G>A rs81002840
NM_000059.4(BRCA2):c.317-97A>G rs1255534605
NM_000059.4(BRCA2):c.3170A>G (p.Lys1057Arg) rs80358562
NM_000059.4(BRCA2):c.3226G>A (p.Val1076Ile) rs431825304
NM_000059.4(BRCA2):c.3321A>C (p.Gln1107His) rs397507306
NM_000059.4(BRCA2):c.3475T>C (p.Cys1159Arg) rs886037814
NM_000059.4(BRCA2):c.3641_3642insA (p.Phe1216fs) rs2137498577
NM_000059.4(BRCA2):c.3744_3747del (p.Ser1248fs) rs80359403
NM_000059.4(BRCA2):c.3786A>T (p.Ser1262=) rs1042077901
NM_000059.4(BRCA2):c.3826G>A (p.Glu1276Lys) rs878853575
NM_000059.4(BRCA2):c.383A>G (p.Asp128Gly) rs80358627
NM_000059.4(BRCA2):c.3858_3860del (p.Lys1286del) rs80359406
NM_000059.4(BRCA2):c.3861TAA[1] (p.Asn1288del) rs276174837
NM_000059.4(BRCA2):c.3908G>A (p.Gly1303Asp) rs587782645
NM_000059.4(BRCA2):c.3998_4002del (p.Asn1333fs) rs2137501910
NM_000059.4(BRCA2):c.4129A>G (p.Asn1377Asp) rs1593901487
NM_000059.4(BRCA2):c.4131_4132insTGAGGA (p.Thr1378Ter) rs80359429
NM_000059.4(BRCA2):c.4237A>G (p.Lys1413Glu) rs876661198
NM_000059.4(BRCA2):c.425G>T (p.Ser142Ile) rs397507713
NM_000059.4(BRCA2):c.4265A>T (p.Glu1422Val) rs1593901855
NM_000059.4(BRCA2):c.4306A>G (p.Ile1436Val) rs778282885
NM_000059.4(BRCA2):c.4366G>A (p.Glu1456Lys) rs876659847
NM_000059.4(BRCA2):c.4380_4381del (p.Ser1461fs) rs397507715
NM_000059.4(BRCA2):c.4454T>G (p.Ile1485Arg) rs1555283790
NM_000059.4(BRCA2):c.4616T>C (p.Leu1539Ser) rs2072509102
NM_000059.4(BRCA2):c.4627A>G (p.Lys1543Glu) rs786204239
NM_000059.4(BRCA2):c.466_467del (p.Arg155_Asp156insTer) rs886040542
NM_000059.4(BRCA2):c.475+1G>A rs81002797
NM_000059.4(BRCA2):c.4808A>T (p.Asn1603Ile) rs890665355
NM_000059.4(BRCA2):c.489T>C (p.Ser163=) rs398122787
NM_000059.4(BRCA2):c.4928T>C (p.Val1643Ala) rs28897731
NM_000059.4(BRCA2):c.4963del (p.Tyr1655fs) rs886040557
NM_000059.4(BRCA2):c.4965C>A (p.Tyr1655Ter) rs80358721
NM_000059.4(BRCA2):c.4969A>T (p.Asn1657Tyr) rs587781599
NM_000059.4(BRCA2):c.4973A>G (p.Gln1658Arg) rs1593903991
NM_000059.4(BRCA2):c.5015A>G (p.Tyr1672Cys) rs2072518272
NM_000059.4(BRCA2):c.501A>G (p.Thr167=) rs750805758
NM_000059.4(BRCA2):c.5059_5062del (p.Leu1687fs) rs1281993806
NM_000059.4(BRCA2):c.5068_5073dup (p.Lys1690_Lys1691dup) rs80359479
NM_000059.4(BRCA2):c.5149del (p.Glu1717fs) rs886040569
NM_000059.4(BRCA2):c.5158dup (p.Ser1720fs) rs80359489
NM_000059.4(BRCA2):c.517-1G>A rs81002849
NM_000059.4(BRCA2):c.5206C>G (p.Gln1736Glu) rs886037802
NM_000059.4(BRCA2):c.5213_5216del (p.Thr1738fs) rs80359493
NM_000059.4(BRCA2):c.5216dup (p.Tyr1739Ter) rs886040578
NM_000059.4(BRCA2):c.5279del (p.Asp1759_Ser1760insTer) rs2137515902
NM_000059.4(BRCA2):c.5352C>A (p.Asn1784Lys) rs1555284187
NM_000059.4(BRCA2):c.5467A>G (p.Lys1823Glu) rs276174858
NM_000059.4(BRCA2):c.5483A>T (p.Lys1828Ile) rs879255459
NM_000059.4(BRCA2):c.5492T>C (p.Ile1831Thr) rs587782007
NM_000059.4(BRCA2):c.556G>C (p.Ala186Pro) rs1217007370
NM_000059.4(BRCA2):c.5616_5620del (p.Lys1872fs) rs80359525
NM_000059.4(BRCA2):c.561G>C (p.Glu187Asp) rs754678843
NM_000059.4(BRCA2):c.5636A>G (p.Glu1879Gly) rs398122536
NM_000059.4(BRCA2):c.565G>T (p.Asp189Tyr) rs1555281067
NM_000059.4(BRCA2):c.5674G>A (p.Gly1892Ser) rs786203948
NM_000059.4(BRCA2):c.5687C>T (p.Ala1896Val) rs730881539
NM_000059.4(BRCA2):c.5720_5723del (p.Asn1906_Ser1907insTer) rs80359530
NM_000059.4(BRCA2):c.5729A>G (p.Asn1910Ser) rs276174863
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.5791C>A (p.Gln1931Lys) rs80358807
NM_000059.4(BRCA2):c.5800C>T (p.Gln1934Ter) rs886040610
NM_000059.4(BRCA2):c.5818G>T (p.Glu1940Ter) rs1566233278
NM_000059.4(BRCA2):c.5879GTA[1] (p.Ser1961del) rs1026127409
NM_000059.4(BRCA2):c.589T>C (p.Ser197Pro) rs730881505
NM_000059.4(BRCA2):c.5904_5907del (p.Val1969fs) rs80359547
NM_000059.4(BRCA2):c.5912C>G (p.Ser1971Cys) rs1593906913
NM_000059.4(BRCA2):c.6024dup (p.Gln2009fs) rs80359554
NM_000059.4(BRCA2):c.6037A>T (p.Lys2013Ter) rs80358840
NM_000059.4(BRCA2):c.6039del (p.Val2014fs) rs876660637
NM_000059.4(BRCA2):c.6095C>T (p.Ala2032Val) rs786202701
NM_000059.4(BRCA2):c.6125A>C (p.Gln2042Pro) rs80358852
NM_000059.4(BRCA2):c.6152A>G (p.Asn2051Ser) rs398122549
NM_000059.4(BRCA2):c.6210A>T (p.Glu2070Asp) rs1555284596
NM_000059.4(BRCA2):c.6242A>C (p.Glu2081Ala) rs1593907983
NM_000059.4(BRCA2):c.6271A>G (p.Ser2091Gly) rs398122550
NM_000059.4(BRCA2):c.6272G>A (p.Ser2091Asn) rs1060502389
NM_000059.4(BRCA2):c.6290_6291insTA (p.Arg2099fs) rs1566234270
NM_000059.4(BRCA2):c.631G>A (p.Val211Ile) rs80358871
NM_000059.4(BRCA2):c.6322C>A (p.Arg2108Ser) rs55794205
NM_000059.4(BRCA2):c.6362A>G (p.Glu2121Gly) rs397507846
NM_000059.4(BRCA2):c.6405_6409del (p.Asn2135fs) rs80359584
NM_000059.4(BRCA2):c.641AAG[1] (p.Glu215del) rs80359588
NM_000059.4(BRCA2):c.643G>A (p.Glu215Lys) rs774539540
NM_000059.4(BRCA2):c.6450dup (p.Val2151fs) rs80359594
NM_000059.4(BRCA2):c.6468_6469del (p.Gln2157fs) rs80359596
NM_000059.4(BRCA2):c.6532C>A (p.His2178Asn) rs80358885
NM_000059.4(BRCA2):c.6554C>T (p.Ala2185Val) rs980859921
NM_000059.4(BRCA2):c.6583G>A (p.Gly2195Ser) rs1593909184
NM_000059.4(BRCA2):c.6591_6592del (p.Glu2198fs) rs80359605
NM_000059.4(BRCA2):c.6656C>G (p.Ser2219Ter) rs80358893
NM_000059.4(BRCA2):c.670G>A (p.Asp224Asn) rs876660484
NM_000059.4(BRCA2):c.6717del (p.Glu2239fs) rs1593909597
NM_000059.4(BRCA2):c.6728C>G (p.Ser2243Cys) rs876659031
NM_000059.4(BRCA2):c.68-2A>G rs769152395
NM_000059.4(BRCA2):c.68-5A>T rs1555280326
NM_000059.4(BRCA2):c.683del (p.Asn228fs) rs1566221288
NM_000059.4(BRCA2):c.6888A>G (p.Ile2296Met) rs879255335
NM_000059.4(BRCA2):c.6938-1G>A rs886040936
NM_000059.4(BRCA2):c.6952C>T (p.Arg2318Ter) rs80358920
NM_000059.4(BRCA2):c.6988A>G (p.Ile2330Val) rs876661032
NM_000059.4(BRCA2):c.7007G>A (p.Arg2336His) rs28897743
NM_000059.4(BRCA2):c.7008-43T>C rs1418463336
NM_000059.4(BRCA2):c.7015A>G (p.Lys2339Glu) rs2072676209
NM_000059.4(BRCA2):c.7051G>C (p.Ala2351Pro) rs80358930
NM_000059.4(BRCA2):c.7060C>T (p.Gln2354Ter) rs80358936
NM_000059.4(BRCA2):c.7069_7070del (p.Leu2357fs) rs80359636
NM_000059.4(BRCA2):c.7093C>T (p.His2365Tyr) rs876659943
NM_000059.4(BRCA2):c.709G>A (p.Asp237Asn) rs398122575
NM_000059.4(BRCA2):c.7127C>T (p.Ala2376Val) rs1593917850
NM_000059.4(BRCA2):c.7170T>A (p.Asn2390Lys) rs1555286027
NM_000059.4(BRCA2):c.7191dup (p.Thr2398fs) rs886040690
NM_000059.4(BRCA2):c.71_72insTTTTTTT (p.Leu24fs) rs397507903
NM_000059.4(BRCA2):c.7234A>C (p.Thr2412Pro) rs876659118
NM_000059.4(BRCA2):c.7246T>G (p.Phe2416Val) rs2072681002
NM_000059.4(BRCA2):c.7298A>G (p.Gln2433Arg) rs1593918295
NM_000059.4(BRCA2):c.738del (p.Phe246fs) rs1566221413
NM_000059.4(BRCA2):c.7420GAA[2] (p.Glu2476del) rs876659222
NM_000059.4(BRCA2):c.7499G>A (p.Arg2500Lys) rs80358976
NM_000059.4(BRCA2):c.7580_7583dup (p.Gly2529fs) rs1555286296
NM_000059.4(BRCA2):c.7617+1G>A rs397507922
NM_000059.4(BRCA2):c.7618-10T>G rs864622573
NM_000059.4(BRCA2):c.7618-21G>T rs376957350
NM_000059.4(BRCA2):c.7622A>G (p.Tyr2541Cys) rs1566242642
NM_000059.4(BRCA2):c.7731A>T (p.Lys2577Asn) rs2137567171
NM_000059.4(BRCA2):c.7738C>T (p.Gln2580Ter) rs80358999
NM_000059.4(BRCA2):c.7792GAA[1] (p.Glu2599del) rs80359682
NM_000059.4(BRCA2):c.7903G>A (p.Glu2635Lys) rs2137577279
NM_000059.4(BRCA2):c.794-22C>T rs1566222022
NM_000059.4(BRCA2):c.7964A>G (p.Gln2655Arg) rs80359024
NM_000059.4(BRCA2):c.7975A>G (p.Arg2659Gly) rs80359026
NM_000059.4(BRCA2):c.7977-7C>T rs397507948
NM_000059.4(BRCA2):c.7985C>T (p.Thr2662Met) rs431825362
NM_000059.4(BRCA2):c.7992T>G (p.Ile2664Met) rs80359800
NM_000059.4(BRCA2):c.8035G>T (p.Asp2679Tyr) rs80359040
NM_000059.4(BRCA2):c.8067T>A (p.Cys2689Ter) rs80359046
NM_000059.4(BRCA2):c.8174G>A (p.Trp2725Ter) rs730881581
NM_000059.4(BRCA2):c.8191C>G (p.Gln2731Glu) rs397507966
NM_000059.4(BRCA2):c.8201del (p.Pro2734fs) rs886040750
NM_000059.4(BRCA2):c.8293T>C (p.Cys2765Arg) rs768247528
NM_000059.4(BRCA2):c.8309C>A (p.Ala2770Asp) rs28897750
NM_000059.4(BRCA2):c.8324T>G (p.Met2775Arg) rs80359073
NM_000059.4(BRCA2):c.8482A>G (p.Ile2828Val) rs80359098
NM_000059.4(BRCA2):c.8487+5G>C rs1566248993
NM_000059.4(BRCA2):c.8488-1G>A rs397507404
NM_000059.4(BRCA2):c.8488-2A>C rs773272765
NM_000059.4(BRCA2):c.8582_8584dup (p.Arg2861dup) rs1593931201
NM_000059.4(BRCA2):c.8585dup (p.Glu2863fs) rs80359720
NM_000059.4(BRCA2):c.8588_8590dup (p.Glu2863dup) rs730881616
NM_000059.4(BRCA2):c.8632+3_8632+4insT rs2137601235
NM_000059.4(BRCA2):c.8725A>T (p.Lys2909Ter) rs2072875960
NM_000059.4(BRCA2):c.8744C>T (p.Ala2915Val) rs1310128359
NM_000059.4(BRCA2):c.8754+9G>A rs749435255
NM_000059.4(BRCA2):c.8755-1G>A rs81002812
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.8755G>T (p.Gly2919Cys) rs1454684155
NM_000059.4(BRCA2):c.8850G>T (p.Lys2950Asn) rs28897754
NM_000059.4(BRCA2):c.8854A>G (p.Met2952Val) rs397508016
NM_000059.4(BRCA2):c.8869C>A (p.Gln2957Lys) rs276174913
NM_000059.4(BRCA2):c.8878C>T (p.Gln2960Ter) rs80359140
NM_000059.4(BRCA2):c.8933C>A (p.Ser2978Ter) rs80359144
NM_000059.4(BRCA2):c.8948A>T (p.Asp2983Val) rs2137620740
NM_000059.4(BRCA2):c.8953+2T>C rs886040947
NM_000059.4(BRCA2):c.9004G>A (p.Glu3002Lys) rs80359152
NM_000059.4(BRCA2):c.9011A>G (p.Lys3004Arg) rs587782779
NM_000059.4(BRCA2):c.9041C>G (p.Ser3014Ter) rs80359156
NM_000059.4(BRCA2):c.9043A>G (p.Lys3015Glu) rs587781497
NM_000059.4(BRCA2):c.9097del (p.Thr3033fs) rs397507419
NM_000059.4(BRCA2):c.9097dup (p.Thr3033fs) rs397507419
NM_000059.4(BRCA2):c.9109C>A (p.Gln3037Lys) rs397508037
NM_000059.4(BRCA2):c.9116C>T (p.Pro3039Leu) rs80359167
NM_000059.4(BRCA2):c.9195T>A (p.Phe3065Leu) rs80359179
NM_000059.4(BRCA2):c.9209dup (p.Ser3070_Glu3071insTer) rs1593938133
NM_000059.4(BRCA2):c.9257-8C>T rs11571819
NM_000059.4(BRCA2):c.9265C>T (p.Pro3089Ser) rs1593199583
NM_000059.4(BRCA2):c.9311A>G (p.Lys3104Arg) rs956554593
NM_000059.4(BRCA2):c.931del (p.Cys311fs) rs2137466012
NM_000059.4(BRCA2):c.9337A>G (p.Ile3113Val) rs1566258935
NM_000059.4(BRCA2):c.9374T>A (p.Leu3125His) rs80359209
NM_000059.4(BRCA2):c.9375C>G (p.Leu3125=) rs276174924
NM_000059.4(BRCA2):c.9375C>T (p.Leu3125=) rs276174924
NM_000059.4(BRCA2):c.93G>A (p.Trp31Ter) rs80359214
NM_000059.4(BRCA2):c.94T>C (p.Phe32Leu) rs397508057
NM_000059.4(BRCA2):c.9501+44T>G rs887669613
NM_000059.4(BRCA2):c.9510C>G (p.Asp3170Glu) rs876661072
NM_000059.4(BRCA2):c.9521A>G (p.Asn3174Ser) rs1555289773
NM_000059.4(BRCA2):c.956A>C (p.Asn319Thr) rs55939572
NM_000059.4(BRCA2):c.967G>A (p.Val323Ile) rs1566222487
NM_000059.4(BRCA2):c.9700A>G (p.Met3234Val) rs730881574
NM_000059.4(BRCA2):c.9945del (p.Glu3316fs) rs431825381
NM_000061.3(BTK):c.1763G>A (p.Trp588Ter) rs1603001805
NM_000061.3(BTK):c.1784dup (p.Met596fs) rs1603001771
NM_000061.3(BTK):c.36G>T (p.Lys12Asn) rs782519139
NM_000061.3(BTK):c.684G>A (p.Met228Ile) rs1926635223
NM_000061.3(BTK):c.721dup (p.Tyr241fs) rs1603008381
NM_000061.3(BTK):c.763C>T (p.Arg255Ter) rs128621193
NM_000063.6(C2):c.841_849+19del rs9332736
NM_000064.4(C3):c.4892G>A (p.Trp1631Ter) rs2145388177
NM_000064.4(C3):c.640C>T (p.Pro214Ser) rs794729228
NM_000069.3(CACNA1S):c.1734G>A (p.Met578Ile) rs1572049461
NM_000069.3(CACNA1S):c.3071T>C (p.Ile1024Thr) rs978624647
NM_000070.3(CAPN3):c.2116-19C>G rs2141223489
NM_000070.3(CAPN3):c.328C>T (p.Arg110Ter) rs121434545
NM_000071.2(CBS):c.832_833insCTGGGGTGGATCATCCAGGTGGGGCTTTTGCTGGGCTTGAGCCCTGAAGCCGCGCCCTCTGCAGATCA
NM_000071.3(CBS):c.1358G>A (p.Gly453Glu) rs886039146
NM_000075.4(CDK4):c.132_143del (p.Gly45_Gly48del) rs749094206
NM_000075.4(CDK4):c.133G>C (p.Gly45Arg) rs876660318
NM_000075.4(CDK4):c.155G>T (p.Ser52Ile) rs760719270
NM_000075.4(CDK4):c.19G>A (p.Glu7Lys) rs1000052939
NM_000075.4(CDK4):c.523-20A>T rs1595110299
NM_000077.5(CDKN2A):c.-16GGCGGCGGGGAGCAGCATGGAGCC[1] (p.Ala4_Pro11del) rs587780668
NM_000077.5(CDKN2A):c.148C>A (p.Gln50Lys) rs864622636
NM_000077.5(CDKN2A):c.150+11G>A rs1587339427
NM_000077.5(CDKN2A):c.150+137T>G rs1587338978
NM_000077.5(CDKN2A):c.150+82A>G rs1231900408
NM_000077.5(CDKN2A):c.170C>A (p.Ala57Asp) rs372266620
NM_000077.5(CDKN2A):c.170C>T (p.Ala57Val) rs372266620
NM_000077.5(CDKN2A):c.220G>C (p.Asp74His) rs760640852
NM_000077.5(CDKN2A):c.221A>C (p.Asp74Ala) rs200429615
NM_000077.5(CDKN2A):c.250G>A (p.Asp84Asn) rs11552822
NM_000077.5(CDKN2A):c.26T>C (p.Met9Thr) rs145445140
NM_000077.5(CDKN2A):c.294C>T (p.His98=) rs752685118
NM_000077.5(CDKN2A):c.301G>T (p.Gly101Trp) rs104894094
NM_000077.5(CDKN2A):c.369T>A (p.His123Gln) rs6413463
NM_000077.5(CDKN2A):c.369T>C (p.His123=) rs6413463
NM_000077.5(CDKN2A):c.404G>C (p.Gly135Ala) rs1182554152
NM_000080.4(CHRNE):c.252A>G (p.Arg84=) rs2151098586
NM_000080.4(CHRNE):c.793C>T (p.Pro265Ser) rs2151097209
NM_000080.4(CHRNE):c.854T>C (p.Val285Ala) rs1597618787
NM_000081.4(LYST):c.3025C>A (p.Gln1009Lys)
NM_000081.4(LYST):c.7229+50CTTTT[7] rs71174459
NM_000083.3(CLCN1):c.2508+5G>A rs1401007697
NM_000085.5(CLCNKB):c.1400C>T (p.Ala467Val) rs1570340095
NM_000085.5(CLCNKB):c.1560T>G (p.Tyr520Ter) rs1570341086
NM_000085.5(CLCNKB):c.18dup (p.Leu7fs) rs953686324
NM_000085.5(CLCNKB):c.673G>T (p.Glu225Ter) rs1570334344
NM_000088.4(COL1A1):c.1192G>C (p.Gly398Arg) rs72648319
NM_000088.4(COL1A1):c.1733G>A (p.Gly578Asp) rs2144569208
NM_000088.4(COL1A1):c.1821+1G>A rs66555264
NM_000088.4(COL1A1):c.2452-1G>C rs72651667
NM_000088.4(COL1A1):c.2633G>C (p.Gly878Ala) rs2144551547
NM_000088.4(COL1A1):c.2915del (p.Phe972fs) rs1598288967
NM_000088.4(COL1A1):c.2990del (p.Pro997fs) rs1598288648
NM_000088.4(COL1A1):c.358C>T (p.Arg120Ter) rs762979302
NM_000088.4(COL1A1):c.432dup (p.Gly145fs) rs72667016
NM_000088.4(COL1A1):c.608G>A (p.Gly203Asp) rs72667031
NM_000088.4(COL1A1):c.608G>T (p.Gly203Val) rs72667031
NM_000088.4(COL1A1):c.725G>T (p.Gly242Val) rs72645315
NM_000088.4(COL1A1):c.814G>T (p.Gly272Cys) rs72645331
NM_000088.4(COL1A1):c.884A>G (p.Asn295Ser) rs1161629582
NM_000088.4(COL1A1):c.887G>T (p.Gly296Val) rs1567761800
NM_000088.4(COL1A1):c.938del (p.Pro313fs) rs1598298292
NM_000088.4(COL1A1):c.958-1G>C rs72645352
NM_000089.4(COL1A2):c.1009G>A (p.Gly337Ser) rs67865220
NM_000089.4(COL1A2):c.1207G>C (p.Gly403Arg) rs2115898280
NM_000089.4(COL1A2):c.139C>A (p.Pro47Thr) rs771800420
NM_000089.4(COL1A2):c.1900G>A (p.Gly634Ser) rs2115921523
NM_000089.4(COL1A2):c.1972-1G>T rs2115924241
NM_000089.4(COL1A2):c.2035G>A (p.Gly679Ser) rs1584325552
NM_000089.4(COL1A2):c.2305G>T (p.Gly769Cys) rs1792147522
NM_000089.4(COL1A2):c.2810G>A (p.Gly937Asp) rs1584329740
NM_000089.4(COL1A2):c.2943+1_2943+2del rs1554398361
NM_000089.4(COL1A2):c.776G>T (p.Gly259Val) rs1584318648
NM_000089.4(COL1A2):c.809_820del (p.Val270_Ala273del) rs1584318956
NM_000089.4(COL1A2):c.857_875del (p.Gly286fs) rs1584319045
NM_000090.4(COL3A1):c.119C>T (p.Ala40Val) rs201380807
NM_000090.4(COL3A1):c.1462C>T (p.Pro488Ser) rs2153502474
NM_000090.4(COL3A1):c.1663-94_1663-93insCACACACA rs200204993
NM_000091.5(COL4A3):c.3337+1G>A rs1430568143
NM_000091.5(COL4A3):c.365T>C (p.Val122Ala) rs766935732
NM_000091.5(COL4A3):c.716G>A (p.Gly239Glu) rs1574699782
NM_000092.5(COL4A4):c.4760C>G (p.Pro1587Arg) rs190148408
NM_000093.5(COL5A1):c.1432G>T (p.Gly478Cys) rs1835194794
NM_000093.5(COL5A1):c.2953-1G>A rs866122374
NM_000093.5(COL5A1):c.3054del (p.Pro1020fs) rs2132822152
NM_000093.5(COL5A1):c.3752dup (p.Pro1253fs) rs786205100
NM_000094.4(COL7A1):c.1758del (p.Ser587fs) rs2045631974
NM_000094.4(COL7A1):c.2314+2T>G rs2107771861
NM_000094.4(COL7A1):c.2722C>T (p.Gln908Ter) rs2045393987
NM_000094.4(COL7A1):c.325_326insCG (p.Glu109fs) rs1235811820
NM_000094.4(COL7A1):c.3894+1G>A rs2107741719
NM_000094.4(COL7A1):c.4635+1G>A rs774890570
NM_000094.4(COL7A1):c.4965C>T (p.Gly1655=) rs1560232515
NM_000094.4(COL7A1):c.5413C>T (p.Pro1805Ser) rs2107694745
NM_000094.4(COL7A1):c.5425-1G>A rs112850769
NM_000094.4(COL7A1):c.6023G>A (p.Arg2008His) rs1002845719
NM_000094.4(COL7A1):c.6035G>T (p.Gly2012Val) rs2107674937
NM_000094.4(COL7A1):c.6187C>G (p.Arg2063Gly) rs121912849
NM_000094.4(COL7A1):c.6502-1G>A rs2107665131
NM_000094.4(COL7A1):c.657del (p.Gly220fs) rs1575494051
NM_000094.4(COL7A1):c.6638G>A (p.Gly2213Glu) rs2107662258
NM_000094.4(COL7A1):c.6652-3del rs1181199317
NM_000094.4(COL7A1):c.6751-2_6751-1del rs760460054
NM_000094.4(COL7A1):c.6826G>A (p.Val2276Met) rs2107659437
NM_000094.4(COL7A1):c.7017C>T (p.Gly2339=) rs1362309822
NM_000094.4(COL7A1):c.7759G>A (p.Gly2587Ser) rs977778252
NM_000094.4(COL7A1):c.8109+1G>T rs1050797523
NM_000095.3(COMP):c.1315G>T (p.Asp439Tyr) rs1601054002
NM_000095.3(COMP):c.1403G>A (p.Cys468Tyr) rs137852651
NM_000095.3(COMP):c.1405GAC[6] (p.Asp473dup) rs193922900
NM_000095.3(COMP):c.1552G>C (p.Asp518His) rs1359984033
NM_000095.3(COMP):c.818A>T (p.Asp273Val) rs1601057491
NM_000095.3(COMP):c.949G>T (p.Asp317Tyr) rs2145903160
NM_000095.3(COMP):c.950A>T (p.Asp317Val) rs1601057057
NM_000096.4(CP):c.2756T>C (p.Leu919Pro) rs1135401784
NM_000097.7(CPOX):c.478C>T (p.Gln160Ter) rs1576306536
NM_000098.3(CPT2):c.1883A>C (p.Tyr628Ser) rs28936673
NM_000111.3(SLC26A3):c.2024_2026dup (p.Ile675dup) rs121913031
NM_000113.3(TOR1A):c.461G>A (p.Trp154Ter) rs2131004790
NM_000113.3(TOR1A):c.958A>G (p.Lys320Glu) rs2131001171
NM_000117.3(EMD):c.12C>A (p.Tyr4Ter) rs782011714
NM_000122.2(ERCC3):c.1828-32A>T rs773954881
NM_000122.2(ERCC3):c.460C>T (p.Gln154Ter) rs1404293670
NM_000123.4(ERCC5):c.1787C>G (p.Ala596Gly) rs1595383704
NM_000123.4(ERCC5):c.3238G>T (p.Gly1080Ter) rs9514067
NM_000123.4(ERCC5):c.840_841dup (p.Val281fs) rs1595382501
NM_000124.4(ERCC6):c.1868_1869dup (p.Ser624fs) rs1307714476
NM_000124.4(ERCC6):c.3284C>G (p.Pro1095Arg) rs4253208
NM_000124.4(ERCC6):c.3445G>T (p.Glu1149Ter) rs1250248245
NM_000127.3(EXT1):c.2143A>G (p.Met715Val) rs1225915837
NM_000127.3(EXT1):c.962+3_962+6del rs1586279285
NM_000132.4(F8):c.1264G>C (p.Asp422His) rs370737113
NM_000132.4(F8):c.1336C>T (p.Arg446Ter) rs137852372
NM_000132.4(F8):c.1468A>G (p.Arg490Gly) rs1603435026
NM_000132.4(F8):c.1752+5G>T rs2124094299
NM_000132.4(F8):c.2113+461_2113+473del rs781928603
NM_000132.4(F8):c.323A>C (p.Lys108Thr) rs137852384
NM_000132.4(F8):c.4379del (p.Asn1460fs) rs387906455
NM_000132.4(F8):c.43C>T (p.Arg15Ter) rs387906432
NM_000132.4(F8):c.4936del (p.Ala1646fs) rs1603433729
NM_000132.4(F8):c.5703C>A (p.Ile1901=) rs782721473
NM_000132.4(F8):c.605G>A (p.Ser202Asn) rs1603436218
NM_000132.4(F8):c.6301C>G (p.His2101Asp) rs1603432783
NM_000135.4(FANCA):c.1942G>A (p.Glu648Lys) rs1427276212
NM_000135.4(FANCA):c.2222+6G>A rs2143339557
NM_000135.4(FANCA):c.236_239del (p.Asp79fs) rs1336033143
NM_000135.4(FANCA):c.275C>G (p.Ser92Ter) rs1183559927
NM_000135.4(FANCA):c.2827G>C (p.Ala943Pro) rs2143260822
NM_000135.4(FANCA):c.4167G>T (p.Gln1389His) rs1598051449
NM_000135.4(FANCA):c.4199G>C (p.Arg1400Pro) rs149851163
NM_000135.4(FANCA):c.542C>A (p.Ala181Glu) rs17232246
NM_000135.4(FANCA):c.710-142_710-141dup rs17232344
NM_000136.3(FANCC):c.-79+98A>G rs1408056644
NM_000136.3(FANCC):c.1065C>A (p.Asp355Glu) rs1588070592
NM_000136.3(FANCC):c.1257del (p.Thr420fs) rs765551897
NM_000136.3(FANCC):c.1257dup (p.Thr420fs) rs765551897
NM_000136.3(FANCC):c.1329+10A>G rs977427150
NM_000136.3(FANCC):c.1393C>T (p.Gln465Ter) rs1035139114
NM_000136.3(FANCC):c.140A>C (p.Lys47Thr) rs1588353368
NM_000136.3(FANCC):c.1495C>T (p.Pro499Ser) rs1564641164
NM_000136.3(FANCC):c.1625G>A (p.Arg542Lys) rs1588008066
NM_000136.3(FANCC):c.165+11G>C rs1588353233
NM_000136.3(FANCC):c.1653dup (p.Lys552Ter) rs2134382250
NM_000136.3(FANCC):c.1663C>T (p.Arg555Ter) rs370974124
NM_000136.3(FANCC):c.17T>C (p.Val6Ala) rs527289778
NM_000136.3(FANCC):c.202G>A (p.Gly68Ser) rs777111154
NM_000136.3(FANCC):c.259C>T (p.Gln87Ter) rs2136049646
NM_000136.3(FANCC):c.338G>A (p.Trp113Ter) rs1064793405
NM_000136.3(FANCC):c.345+4AG[2] rs755657969
NM_000136.3(FANCC):c.413T>G (p.Leu138Arg) rs1564720454
NM_000136.3(FANCC):c.519del (p.Arg173fs) rs1564719070
NM_000136.3(FANCC):c.687-5G>T rs767811745
NM_000136.3(FANCC):c.816C>G (p.Ile272Met) rs55719336
NM_000136.3(FANCC):c.844-10_844-8del rs758617953
NM_000137.4(FAH):c.1003_1004del (p.Val335fs) rs1595897345
NM_000137.4(FAH):c.155G>T (p.Gly52Val) rs780944655
NM_000137.4(FAH):c.61G>T (p.Val21Phe) rs2041065908
NM_000137.4(FAH):c.745C>T (p.Pro249Ser) rs1595894742
NM_000138.5(FBN1):c.1130G>A (p.Cys377Tyr) rs1597583989
NM_000138.5(FBN1):c.1679G>T (p.Gly560Val) rs1555400052
NM_000138.5(FBN1):c.1709G>A (p.Cys570Tyr) rs1555400049
NM_000138.5(FBN1):c.170A>G (p.Asn57Ser) rs2044669666
NM_000138.5(FBN1):c.1754G>A (p.Gly585Glu) rs1060501041
NM_000138.5(FBN1):c.1759T>C (p.Cys587Arg) rs1555399968
NM_000138.5(FBN1):c.189T>G (p.Tyr63Ter) rs1597633183
NM_000138.5(FBN1):c.1960+1G>C rs1555399804
NM_000138.5(FBN1):c.2130dup (p.Cys711fs) rs1597571391
NM_000138.5(FBN1):c.3217G>T (p.Glu1073Ter) rs137854478
NM_000138.5(FBN1):c.3375dup (p.Gly1126fs) rs1597563287
NM_000138.5(FBN1):c.3545G>A (p.Cys1182Tyr) rs1597562812
NM_000138.5(FBN1):c.4022A>G (p.Asn1341Ser) rs140638
NM_000138.5(FBN1):c.4027G>A (p.Ala1343Thr) rs2043404775
NM_000138.5(FBN1):c.4048T>C (p.Cys1350Arg) rs397515799
NM_000138.5(FBN1):c.4048T>G (p.Cys1350Gly) rs397515799
NM_000138.5(FBN1):c.4583-8G>C rs910464222
NM_000138.5(FBN1):c.4684T>C (p.Cys1562Arg) rs193922207
NM_000138.5(FBN1):c.4687T>A (p.Cys1563Ser) rs1597548672
NM_000138.5(FBN1):c.496T>C (p.Cys166Arg) rs363852
NM_000138.5(FBN1):c.4988G>C (p.Cys1663Ser) rs1555396853
NM_000138.5(FBN1):c.5083T>G (p.Cys1695Gly) rs1597545345
NM_000138.5(FBN1):c.5125G>T (p.Glu1709Ter) rs1597545257
NM_000138.5(FBN1):c.5244_5247dup (p.Ser1750fs) rs1597543486
NM_000138.5(FBN1):c.5345G>A (p.Cys1782Tyr) rs1555396429
NM_000138.5(FBN1):c.5431G>T (p.Glu1811Ter) rs761857514
NM_000138.5(FBN1):c.5675_5676del (p.Ile1892fs) rs1597533713
NM_000138.5(FBN1):c.6079G>T (p.Gly2027Cys) rs1566897404
NM_000138.5(FBN1):c.6149del (p.Gly2050fs) rs1597529686
NM_000138.5(FBN1):c.6478G>A (p.Ala2160Thr) rs2043077484
NM_000138.5(FBN1):c.6508T>C (p.Cys2170Arg) rs1597523873
NM_000138.5(FBN1):c.6610T>C (p.Cys2204Arg) rs1555395001
NM_000138.5(FBN1):c.6629G>A (p.Cys2210Tyr) rs2141235242
NM_000138.5(FBN1):c.719G>A (p.Arg240His) rs768744583
NM_000138.5(FBN1):c.7249del (p.Glu2417fs) rs2141226991
NM_000138.5(FBN1):c.7499G>A (p.Cys2500Tyr) rs794728160
NM_000138.5(FBN1):c.7623C>G (p.Cys2541Trp) rs2141221899
NM_000138.5(FBN1):c.7820-1G>C rs1597509836
NM_000138.5(FBN1):c.7830A>T (p.Glu2610Asp) rs1597509823
NM_000138.5(FBN1):c.8163_8202dup (p.Glu2735fs) rs2141211556
NM_000138.5(FBN1):c.8596dup (p.Ile2866fs) rs1597506547
NM_000140.5(FECH):c.163G>T (p.Gly55Cys) rs3848519
NM_000140.5(FECH):c.365del (p.Gln122fs) rs1599003455
NM_000140.5(FECH):c.598+1G>T rs1598996309
NM_000141.5(FGFR2):c.1007A>G (p.Asp336Gly) rs1057519042
NM_000141.5(FGFR2):c.1032G>A (p.Ala344=) rs121918491
NM_000141.5(FGFR2):c.1061C>T (p.Ser354Phe) rs121918490
NM_000141.5(FGFR2):c.1847A>G (p.Tyr616Cys) rs762545440
NM_000141.5(FGFR2):c.940-2A>C rs1057519041
NM_000142.5(FGFR3):c.1138G>A (p.Gly380Arg) rs28931614
NM_000142.5(FGFR3):c.1138G>C (p.Gly380Arg) rs28931614
NM_000142.5(FGFR3):c.1948A>C (p.Lys650Gln) rs78311289
NM_000142.5(FGFR3):c.251C>T (p.Ser84Leu) rs121913116
NM_000142.5(FGFR3):c.742C>T (p.Arg248Cys) rs121913482
NM_000142.5(FGFR3):c.749C>G (p.Pro250Arg) rs4647924
NM_000143.4(FH):c.1237-50TC[20] rs144131869
NM_000143.4(FH):c.1237-50TC[21] rs144131869
NM_000143.4(FH):c.1431_1433dup (p.Lys477dup) rs367543046
NM_000146.4(FTL):c.311A>G (p.Glu104Gly) rs2038454487
NM_000151.4(G6PC1):c.511del (p.Ile171fs) rs1597990895
NM_000151.4(G6PC1):c.526C>T (p.His176Tyr) rs1597990906
NM_000151.4(G6PC1):c.563-3C>G rs1597991608
NM_000151.4(G6PC1):c.70C>T (p.Gln24Ter) rs2151929089
NM_000151.4(G6PC1):c.770C>A (p.Pro257His) rs1597991733
NM_000152.5(GAA):c.1106T>C (p.Leu369Pro) rs2039149745
NM_000152.5(GAA):c.2740dup (p.Gln914fs) rs745427943
NM_000153.4(GALC):c.1433del (p.Pro478fs) rs2139956468
NM_000153.4(GALC):c.1690T>G (p.Cys564Gly) rs1595190129
NM_000153.4(GALC):c.1753G>T (p.Gly585Cys)
NM_000153.4(GALC):c.1754G>A (p.Gly585Asp) rs776098499
NM_000153.4(GALC):c.65_74del (p.Gly22fs) rs1595246385
NM_000153.4(GALC):c.884A>T (p.Asn295Ile) rs746922378
NM_000153.4(GALC):c.896G>A (p.Gly299Asp) rs1566993126
NM_000154.2(GALK1):c.410G>A (p.Gly137Asp) rs915070690
NM_000155.2(GALT):c.-119_-116delGTCA rs111033640
NM_000155.4(GALT):c.100T>A (p.Tyr34Asn) rs111033836
NM_000155.4(GALT):c.1060-84_1060-71dup rs56121779
NM_000155.4(GALT):c.134C>A (p.Ser45Ter) rs111033652
NM_000155.4(GALT):c.142C>A (p.Arg48Ser) rs886042088
NM_000155.4(GALT):c.2T>C (p.Met1Thr) rs771702963
NM_000155.4(GALT):c.776G>A (p.Arg259Gln) rs886042070
NM_000155.4(GALT):c.820+13A>G rs111033768
NM_000155.4(GALT):c.856_864del (p.Tyr286_Asn288del) rs1587240095
NM_000155.4(GALT):c.895G>A (p.Gly299Ser) rs1587240180
NM_000156.6(GAMT):c.316C>T (p.Gln106Ter) rs1369786965
NM_000156.6(GAMT):c.392-1G>A rs1600158650
NM_000156.6(GAMT):c.521G>A (p.Trp174Ter) rs200444143
NM_000157.4(GBA1):c.1388G>C (p.Ser463Thr) rs1571965884
NM_000158.4(GBE1):c.770T>C (p.Phe257Ser) rs1576183537
NM_000159.4(GCDH):c.1142T>C (p.Ile381Thr) rs772654647
NM_000159.4(GCDH):c.1222G>A (p.Glu408Lys) rs1599619180
NM_000159.4(GCDH):c.424A>C (p.Ser142Arg) rs2145944277
NM_000159.4(GCDH):c.671T>G (p.Val224Gly) rs1970675584
NM_000159.4(GCDH):c.91+5G>A rs952356983
NM_000161.3(GCH1):c.218C>T (p.Ala73Val) rs2140127256
NM_000161.3(GCH1):c.26_27insTCT (p.Pro9_Ala10insLeu) rs1595031768
NM_000161.3(GCH1):c.305T>C (p.Met102Thr) rs2140127042
NM_000161.3(GCH1):c.510-1G>T rs1555358604
NM_000161.3(GCH1):c.601G>T (p.Gly201Ter) rs2140041673
NM_000161.3(GCH1):c.646C>T (p.Arg216Ter) rs41298440
NM_000162.5(GCK):c.1017G>C (p.Glu339Asp) rs954171452
NM_000162.5(GCK):c.1031_1034dup (p.Lys346fs) rs1583592247
NM_000162.5(GCK):c.183C>A (p.Tyr61Ter) rs780612692
NM_000162.5(GCK):c.501G>C (p.Trp167Cys) rs1470521850
NM_000162.5(GCK):c.737G>A (p.Gly246Glu) rs1583596522
NM_000162.5(GCK):c.917T>A (p.Leu306Gln) rs193922337
NM_000163.5(GHR):c.484G>A (p.Val162Ile) rs6413484
NM_000165.5(GJA1):c.565del (p.Arg189fs) rs1582558420
NM_000166.6(GJB1):c.124A>T (p.Ser42Cys) rs1602348801
NM_000166.6(GJB1):c.281A>G (p.His94Arg) rs1602349095
NM_000166.6(GJB1):c.392T>C (p.Leu131Pro) rs1555937166
NM_000166.6(GJB1):c.394_395del (p.Trp132fs) rs1555937168
NM_000166.6(GJB1):c.395G>A (p.Trp132Ter) rs2147946047
NM_000166.6(GJB1):c.468_469del (p.Tyr157fs) rs1602349420
NM_000166.6(GJB1):c.494T>A (p.Leu165Gln) rs1602349468
NM_000166.6(GJB1):c.538T>C (p.Phe180Leu) rs1602349603
NM_000166.6(GJB1):c.548G>A (p.Arg183His) rs1555937233
NM_000166.6(GJB1):c.556G>A (p.Glu186Lys) rs116840821
NM_000166.6(GJB1):c.559A>G (p.Lys187Glu) rs1555937244
NM_000166.6(GJB1):c.65G>A (p.Arg22Gln) rs1060501002
NM_000168.6(GLI3):c.1999C>T (p.Arg667Ter) rs781422192
NM_000168.6(GLI3):c.367+49TG[20] rs34148485
NM_000168.6(GLI3):c.4076G>A (p.Gly1359Glu) rs1583728402
NM_000169.3(GLA):c.1117G>A (p.Gly373Ser) rs727504348
NM_000169.3(GLA):c.2T>A (p.Met1Lys) rs1555987232
NM_000169.3(GLA):c.326A>G (p.Asp109Gly) rs1064794205
NM_000169.3(GLA):c.476T>C (p.Phe159Ser) rs1555985814
NM_000169.3(GLA):c.782del (p.Gly261fs) rs869312400
NM_000170.3(GLDC):c.2316-6dup rs3215923
NM_000170.3(GLDC):c.2639A>T (p.Asp880Val) rs386833566
NM_000170.3(GLDC):c.2838+1G>A rs542056100
NM_000170.3(GLDC):c.635+1G>A rs1368757896
NM_000170.3(GLDC):c.706C>T (p.Arg236Ter) rs386833585
NM_000173.7(GP1BA):c.1274_1275del (p.Glu425fs) rs773663190
NM_000173.7(GP1BA):c.1282_1359del (p.415_427SEPAPSPTTPEPT[1]) rs869060239
NM_000179.3(MSH6):c.-46T>G rs748339592
NM_000179.3(MSH6):c.1120A>G (p.Lys374Glu) rs1558660575
NM_000179.3(MSH6):c.1185_1186del (p.Tyr397fs) rs1572722039
NM_000179.3(MSH6):c.1321C>G (p.Leu441Val) rs1553412749
NM_000179.3(MSH6):c.1390A>G (p.Ile464Val) rs201892477
NM_000179.3(MSH6):c.1406A>G (p.Tyr469Cys) rs748165218
NM_000179.3(MSH6):c.1420G>C (p.Val474Leu) rs1558661621
NM_000179.3(MSH6):c.1508C>T (p.Ser503Phe) rs63750897
NM_000179.3(MSH6):c.1634_1635del (p.Lys545fs) rs267608064
NM_000179.3(MSH6):c.1651G>A (p.Gly551Ser) rs1558662449
NM_000179.3(MSH6):c.173G>C (p.Arg58Thr) rs1064795187
NM_000179.3(MSH6):c.175C>A (p.Pro59Thr) rs761033647
NM_000179.3(MSH6):c.1806_1809del (p.Glu604fs) rs63750735
NM_000179.3(MSH6):c.181G>C (p.Ala61Pro) rs1057524911
NM_000179.3(MSH6):c.183G>C (p.Ala61=) rs1060504757
NM_000179.3(MSH6):c.184C>T (p.Arg62Cys) rs876659508
NM_000179.3(MSH6):c.2062G>A (p.Val688Ile) rs1201347192
NM_000179.3(MSH6):c.2082C>A (p.Cys694Ter) rs1114167791
NM_000179.3(MSH6):c.2180C>T (p.Thr727Ile) rs767861096
NM_000179.3(MSH6):c.2298T>G (p.His766Gln) rs768535330
NM_000179.3(MSH6):c.2479A>G (p.Asn827Asp) rs878853716
NM_000179.3(MSH6):c.2480A>C (p.Asn827Thr) rs1558665569
NM_000179.3(MSH6):c.2501G>A (p.Ser834Asn) rs752544046
NM_000179.3(MSH6):c.253C>T (p.Pro85Ser) rs779664343
NM_000179.3(MSH6):c.2732G>A (p.Arg911Gln) rs761622304
NM_000179.3(MSH6):c.2752C>T (p.His918Tyr) rs1558666591
NM_000179.3(MSH6):c.275C>T (p.Pro92Leu) rs1257646433
NM_000179.3(MSH6):c.2892T>A (p.Cys964Ter) rs1482228994
NM_000179.3(MSH6):c.2899A>G (p.Ile967Val) rs876661067
NM_000179.3(MSH6):c.2941A>G (p.Ile981Val) rs730881799
NM_000179.3(MSH6):c.2963G>T (p.Arg988Leu) rs115386788
NM_000179.3(MSH6):c.3018C>A (p.Tyr1006Ter) rs1553414395
NM_000179.3(MSH6):c.3019T>C (p.Trp1007Arg) rs1553414398
NM_000179.3(MSH6):c.3151G>A (p.Val1051Ile) rs576269342
NM_000179.3(MSH6):c.3153A>G (p.Val1051=) rs1057521587
NM_000179.3(MSH6):c.3172+230_3172+231dup rs10666222
NM_000179.3(MSH6):c.3195_3199del (p.Asn1065fs) rs1384780420
NM_000179.3(MSH6):c.3246G>T (p.Pro1082=) rs3136351
NM_000179.3(MSH6):c.3260C>G (p.Pro1087Arg) rs63750753
NM_000179.3(MSH6):c.3261del (p.Phe1088fs) rs267608078
NM_000179.3(MSH6):c.3261dup (p.Phe1088fs) rs267608078
NM_000179.3(MSH6):c.3270G>C (p.Glu1090Asp) rs876660165
NM_000179.3(MSH6):c.3307T>G (p.Phe1103Val) rs1553331522
NM_000179.3(MSH6):c.3314G>T (p.Gly1105Val) rs1060502910
NM_000179.3(MSH6):c.334A>G (p.Asn112Asp) rs864622397
NM_000179.3(MSH6):c.3464_3477dup (p.Val1160fs) rs2104504931
NM_000179.3(MSH6):c.34C>A (p.Pro12Thr) rs587782084
NM_000179.3(MSH6):c.3524C>G (p.Thr1175Ser) rs369583604
NM_000179.3(MSH6):c.3557-16T>A rs1259754363
NM_000179.3(MSH6):c.3557-2del rs587779271
NM_000179.3(MSH6):c.3557-4del rs267608102
NM_000179.3(MSH6):c.3613_3615dup (p.Thr1205dup) rs1558390840
NM_000179.3(MSH6):c.3636G>T (p.Val1212=) rs1363247790
NM_000179.3(MSH6):c.3646G>C (p.Gly1216Arg) rs1114167690
NM_000179.3(MSH6):c.3753_3756dup (p.Val1253fs) rs876661222
NM_000179.3(MSH6):c.378A>G (p.Ser126=) rs1572708845
NM_000179.3(MSH6):c.3836G>A (p.Ser1279Asn) rs864622400
NM_000179.3(MSH6):c.3904G>A (p.Ala1302Thr) rs1553333561
NM_000179.3(MSH6):c.3971AGA[1] (p.Lys1325del) rs587779300
NM_000179.3(MSH6):c.3992G>A (p.Arg1331Gln) rs184131049
NM_000179.3(MSH6):c.3996_3999dup (p.Arg1334fs) rs1553333753
NM_000179.3(MSH6):c.4001+27TAAC[3] rs267608136
NM_000179.3(MSH6):c.4001+2TAAC[2] rs267608132
NM_000179.3(MSH6):c.4001+2TAAC[4] rs267608132
NM_000179.3(MSH6):c.4001+42_4001+44dup rs926031657
NM_000179.3(MSH6):c.4001+4_4001+8dup rs587782853
NM_000179.3(MSH6):c.4001+50_4001+51dup rs199687113
NM_000179.3(MSH6):c.4002-10dup rs59056100
NM_000179.3(MSH6):c.4002-11_4002-10del 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.4002-36C>A rs983280767
NM_000179.3(MSH6):c.4022_4077dup (p.Leu1360delinsLysGlyGlnLeuTer) rs1553334006
NM_000179.3(MSH6):c.4034_4042del (p.Val1345_Ala1347del) rs864622703
NM_000179.3(MSH6):c.4068_4071dup (p.Lys1358delinsAspTer) rs55740729
NM_000179.3(MSH6):c.4074_*37dup (p.Lys1358_Ter1361=) rs2104585775
NM_000179.3(MSH6):c.4077_4080dup (p.Ter1361IleextTer?) rs575068534
NM_000179.3(MSH6):c.423C>G (p.Gly141=) rs777587467
NM_000179.3(MSH6):c.457+32TG[12] rs397839804
NM_000179.3(MSH6):c.520A>C (p.Arg174=) rs1405000889
NM_000179.3(MSH6):c.545C>G (p.Ala182Gly) rs876659786
NM_000179.3(MSH6):c.627+26_627+37del rs1558656848
NM_000179.3(MSH6):c.818G>T (p.Gly273Val) rs769610487
NM_000179.3(MSH6):c.838A>G (p.Ser280Gly) rs1558659442
NM_000179.3(MSH6):c.905G>C (p.Arg302Thr) rs587781510
NM_000179.3(MSH6):c.923G>C (p.Gly308Ala) rs1553412354
NM_000179.3(MSH6):c.933A>T (p.Lys311Asn) rs730881785
NM_000179.3(MSH6):c.976_977insTTGCG (p.Ala326fs) rs2104310469
NM_000180.4(GUCY2D):c.1245del (p.Phe415fs) rs1598146173
NM_000180.4(GUCY2D):c.129_134del (p.Leu44_Leu45del) rs552184470
NM_000180.4(GUCY2D):c.1343C>A (p.Ser448Ter) rs61749679
NM_000180.4(GUCY2D):c.1957-2A>G rs945734402
NM_000180.4(GUCY2D):c.1972C>T (p.His658Tyr) rs1598149154
NM_000180.4(GUCY2D):c.1A>G (p.Met1Val) rs1424348888
NM_000180.4(GUCY2D):c.2512C>G (p.Arg838Gly) rs61750172
NM_000180.4(GUCY2D):c.2999G>A (p.Gly1000Glu) rs1598151461
NM_000181.4(GUSB):c.1506C>A (p.Asn502Lys) rs1159683641
NM_000181.4(GUSB):c.366G>C (p.Arg122Ser) rs1583946993
NM_000181.4(GUSB):c.380A>G (p.His127Arg) rs765699404
NM_000182.5(HADHA):c.1689+2T>G rs1574602991
NM_000183.3(HADHB):c.1206C>G (p.Tyr402Ter) rs146538551
NM_000183.3(HADHB):c.1375G>A (p.Ala459Thr) rs1376342675
NM_000183.3(HADHB):c.5_7dup (p.Thr2dup) rs3839049
NM_000188.3(HK1):c.1334C>T (p.Ser445Leu) rs1064794848
NM_000190.4(HMBS):c.532G>A (p.Asp178Asn) rs536814318
NM_000190.4(HMBS):c.973C>T (p.Arg325Ter) rs2134885779
NM_000191.3(HMGCL):c.230del (p.Val77fs) rs1638632303
NM_000191.3(HMGCL):c.505_506del (p.Ser169fs) rs764264834
NM_000194.3(HPRT1):c.134+1G>C rs2124290378
NM_000194.3(HPRT1):c.134+6_134+9del rs794727238
NM_000194.3(HPRT1):c.221T>G (p.Phe74Cys) rs1602741150
NM_000194.3(HPRT1):c.233T>C (p.Leu78Pro) rs2124291470
NM_000194.3(HPRT1):c.384+1G>T rs398123240
NM_000194.3(HPRT1):c.486-7T>G rs763693519
NM_000199.5(SGSH):c.1080del (p.Val361fs) rs770947426
NM_000199.5(SGSH):c.1159G>A (p.Val387Met) rs62620232
NM_000199.5(SGSH):c.1448C>T (p.Pro483Leu) rs1598736884
NM_000202.8(IDS):c.418+34G>T rs1463289439
NM_000202.8(IDS):c.442G>T (p.Asp148Tyr) rs1602745838
NM_000202.8(IDS):c.469C>T (p.Pro157Ser) rs864622774
NM_000202.8(IDS):c.507+1G>A rs2124055167
NM_000202.8(IDS):c.507+2T>G rs2124055161
NM_000203.5(IDUA):c.1250C>A (p.Thr417Lys) rs1464048268
NM_000203.5(IDUA):c.1660C>G (p.Leu554Val) rs2153022999
NM_000203.5(IDUA):c.956C>A (p.Ala319Glu) rs781534097
NM_000206.3(IL2RG):c.421C>T (p.Gln141Ter) rs1556330713
NM_000206.3(IL2RG):c.903_910del (p.Glu302fs) rs1556329779
NM_000206.3(IL2RG):c.905_906del (p.Glu302fs) rs2147746709
NM_000207.3(INS):c.188-31G>A rs797045623
NM_000208.4(INSR):c.1513A>G (p.Ile505Val) rs1599937384
NM_000208.4(INSR):c.3661T>G (p.Ser1221Ala) rs201979105
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_000209.4(PDX1):c.97C>A (p.Pro33Thr) rs192902098
NM_000214.3(JAG1):c.2101A>C (p.Thr701Pro) rs79176844
NM_000214.3(JAG1):c.2458+1G>A rs2122600431
NM_000214.3(JAG1):c.886+1G>A rs1600186024
NM_000214.3(JAG1):c.903dup (p.Thr302fs) rs2122614562
NM_000215.4(JAK3):c.2773C>A (p.Arg925Ser) rs149452625
NM_000215.4(JAK3):c.2933_2934del (p.Lys978fs) rs1380154594
NM_000218.3(KCNQ1):c.551A>C (p.Tyr184Ser) rs199473397
NM_000222.3(KIT):c.1094C>G (p.Ser365Cys) rs2109705813
NM_000223.4(KRT12):c.993_994dup (p.Ser332fs) rs2143258837
NM_000228.3(LAMB3):c.628+2T>A rs1666753666
NM_000232.5(SGCB):c.243+2T>C rs1553940661
NM_000232.5(SGCB):c.299T>A (p.Met100Lys) rs104893871
NM_000232.5(SGCB):c.366_367del (p.Leu122_Tyr123insTer) rs1578126090
NM_000232.5(SGCB):c.466_467del (p.Glu156fs) rs1578125670
NM_000232.5(SGCB):c.753+5G>A rs936193061
NM_000235.4(LIPA):c.266T>C (p.Leu89Pro) rs2133436727
NM_000235.4(LIPA):c.647T>A (p.Leu216Ter) rs2133429402
NM_000237.3(LPL):c.1081G>A (p.Ala361Thr) rs118204071
NM_000237.3(LPL):c.1306G>C (p.Gly436Arg) rs587777909
NM_000237.3(LPL):c.190G>T (p.Val64Leu) rs114101772
NM_000237.3(LPL):c.242G>A (p.Gly81Asp) rs762007406
NM_000237.3(LPL):c.257G>C (p.Gly86Ala) rs2069936138
NM_000237.3(LPL):c.587G>C (p.Ser196Thr) rs1301261115
NM_000237.3(LPL):c.691G>A (p.Asp231Asn) rs2128838188
NM_000237.3(LPL):c.862G>C (p.Ala288Pro) rs1800011
NM_000237.3(LPL):c.877T>C (p.Ser293Pro) rs1274915423
NM_000237.3(LPL):c.88+1G>T rs766134215
NM_000237.3(LPL):c.886G>A (p.Ala296Thr) rs746740949
NM_000237.3(LPL):c.984G>T (p.Met328Ile) rs2128838564
NM_000238.4(KCNH2):c.127T>G (p.Tyr43Asp) rs199472837
NM_000238.4(KCNH2):c.140G>T (p.Gly47Val) rs199473490
NM_000238.4(KCNH2):c.221C>T (p.Thr74Met) rs199473422
NM_000238.4(KCNH2):c.257T>G (p.Leu86Arg) rs199472851
NM_000238.4(KCNH2):c.2654G>A (p.Arg885His) rs202194495
NM_000238.4(KCNH2):c.2771G>A (p.Gly924Glu) rs199473009
NM_000238.4(KCNH2):c.298C>G (p.Arg100Gly) rs121912515
NM_000238.4(KCNH2):c.301A>G (p.Lys101Glu) rs199472856
NM_000238.4(KCNH2):c.326T>G (p.Leu109Arg) rs199473498
NM_000238.4(KCNH2):c.453dup (p.Thr152fs) rs761863251
NM_000243.3(MEFV):c.-12C>G rs104895148
NM_000243.3(MEFV):c.1115T>C (p.Leu372Pro) rs1218172738
NM_000243.3(MEFV):c.1267A>G (p.Ile423Val) rs104895149
NM_000243.3(MEFV):c.1318C>G (p.Gln440Glu) rs11466026
NM_000243.3(MEFV):c.1405G>T (p.Val469Leu) rs104895173
NM_000243.3(MEFV):c.1413C>A (p.Tyr471Ter) rs104895207
NM_000243.3(MEFV):c.1432C>T (p.His478Tyr) rs104895105
NM_000243.3(MEFV):c.1437C>G (p.Phe479Leu) rs104895083
NM_000243.3(MEFV):c.1459G>A (p.Val487Met) rs104895100
NM_000243.3(MEFV):c.1463G>A (p.Gly488Asp) rs1596352746
NM_000243.3(MEFV):c.1501C>G (p.Arg501Gly) rs104895101
NM_000243.3(MEFV):c.1541G>A (p.Gly514Glu) rs104895168
NM_000243.3(MEFV):c.1730C>A (p.Thr577Asn) rs1057516210
NM_000243.3(MEFV):c.1730C>G (p.Thr577Ser) rs1057516210
NM_000243.3(MEFV):c.1773T>G (p.Ile591Met) rs141706767
NM_000243.3(MEFV):c.1841C>T (p.Ser614Phe) rs1332372034
NM_000243.3(MEFV):c.1854G>C (p.Lys618Asn) rs766576175
NM_000243.3(MEFV):c.1895G>C (p.Gly632Ala) rs967990798
NM_000243.3(MEFV):c.1910A>G (p.Asp637Gly) rs387907568
NM_000243.3(MEFV):c.1967A>C (p.Glu656Ala) rs104895086
NM_000243.3(MEFV):c.2024G>A (p.Ser675Asn) rs104895087
NM_000243.3(MEFV):c.2038A>C (p.Met680Leu) rs104895089
NM_000243.3(MEFV):c.2040G>A (p.Met680Ile) rs28940580
NM_000243.3(MEFV):c.2042C>T (p.Thr681Ile) rs104895090
NM_000243.3(MEFV):c.2060G>A (p.Gly687Asp) rs387907570
NM_000243.3(MEFV):c.2064C>G (p.Tyr688Ter) rs104895098
NM_000243.3(MEFV):c.2078TGA[1] (p.Met694del) rs104895091
NM_000243.3(MEFV):c.2080A>T (p.Met694Leu) rs61752717
NM_000243.3(MEFV):c.2081T>A (p.Met694Lys) rs1596350022
NM_000243.3(MEFV):c.2084A>T (p.Lys695Met) rs104895094
NM_000243.3(MEFV):c.2105C>G (p.Ser702Cys) rs104895166
NM_000243.3(MEFV):c.2147A>T (p.Lys716Met) rs1596349932
NM_000243.3(MEFV):c.2149C>A (p.Arg717Ser) rs104895192
NM_000243.3(MEFV):c.2150G>A (p.Arg717His) rs545517350
NM_000243.3(MEFV):c.2150G>T (p.Arg717Leu) rs545517350
NM_000243.3(MEFV):c.2229C>G (p.Phe743Leu) rs104895152
NM_000243.3(MEFV):c.2230G>T (p.Ala744Ser) rs61732874
NM_000243.3(MEFV):c.2246C>G (p.Ser749Cys) rs104895171
NM_000243.3(MEFV):c.2281C>A (p.Arg761Ser) rs774807554
NM_000243.3(MEFV):c.2305C>G (p.Pro769Ala) rs387907565
NM_000243.3(MEFV):c.2330dup (p.Gln778fs) rs1596349724
NM_000243.3(MEFV):c.250G>A (p.Glu84Lys) rs150819742
NM_000243.3(MEFV):c.25C>T (p.Leu9=) rs104895146
NM_000243.3(MEFV):c.322A>C (p.Ser108Arg) rs104895103
NM_000243.3(MEFV):c.374AGGGGAACG[3] (p.125EGN[3]) rs104895121
NM_000243.3(MEFV):c.383A>T (p.Glu128Val) rs201172310
NM_000243.3(MEFV):c.407G>A (p.Gly136Glu) rs876660989
NM_000243.3(MEFV):c.428G>C (p.Arg143Pro) rs104895190
NM_000243.3(MEFV):c.488A>C (p.Glu163Ala) rs104895106
NM_000243.3(MEFV):c.536G>T (p.Ser179Ile) rs104895125
NM_000243.3(MEFV):c.539C>G (p.Pro180Arg) rs104895134
NM_000243.3(MEFV):c.586G>T (p.Gly196Trp) rs104895179
NM_000243.3(MEFV):c.606_621dup (p.Ser208fs) rs104895180
NM_000243.3(MEFV):c.688G>C (p.Glu230Gln) rs104895080
NM_000243.3(MEFV):c.726C>G (p.Ser242Arg) rs104895127
NM_000243.3(MEFV):c.739A>G (p.Ile247Val) rs1472692347
NM_000243.3(MEFV):c.751G>A (p.Glu251Lys) rs104895111
NM_000243.3(MEFV):c.761_764dup (p.Asn256fs) rs104895138
NM_000243.3(MEFV):c.803C>T (p.Ala268Val) rs104895123
NM_000243.3(MEFV):c.848C>G (p.Pro283Arg) rs104895119
NM_000243.3(MEFV):c.866C>A (p.Ala289Glu) rs104895132
NM_000243.3(MEFV):c.896A>G (p.Glu299Gly) rs104895167
NM_000245.4(MET):c.1125C>G (p.Asn375Lys) rs776693512
NM_000245.4(MET):c.135C>G (p.Asn45Lys) rs1562883006
NM_000245.4(MET):c.1393-1G>T rs1584921909
NM_000245.4(MET):c.1393-2A>T rs1584921898
NM_000245.4(MET):c.1496A>G (p.Asn499Ser) rs1253878709
NM_000245.4(MET):c.1508T>A (p.Leu503Gln) rs1562908826
NM_000245.4(MET):c.1541C>T (p.Pro514Leu)
NM_000245.4(MET):c.1701+58dup rs112241458
NM_000245.4(MET):c.1701+59G>T rs759007523
NM_000245.4(MET):c.1866G>C (p.Leu622Phe) rs1562921668
NM_000245.4(MET):c.1933G>A (p.Gly645Arg) rs763849125
NM_000245.4(MET):c.1973T>C (p.Val658Ala) rs1584941533
NM_000245.4(MET):c.2103-1G>T rs1336351205
NM_000245.4(MET):c.2103-2A>T rs1470403316
NM_000245.4(MET):c.2255C>A (p.Ser752Tyr)
NM_000245.4(MET):c.236A>G (p.Gln79Arg) rs1562883214
NM_000245.4(MET):c.2510A>G (p.His837Arg) rs1041349799
NM_000245.4(MET):c.252C>T (p.Tyr84=) rs1584876265
NM_000245.4(MET):c.253A>G (p.Lys85Glu) rs1791469321
NM_000245.4(MET):c.2568T>G (p.Asn856Lys) rs118057172
NM_000245.4(MET):c.2584-1G>T rs1240673121
NM_000245.4(MET):c.2584-3C>T rs1337305891
NM_000245.4(MET):c.2584-9del rs57349036
NM_000245.4(MET):c.2672C>G (p.Ala891Gly) rs1562929174
NM_000245.4(MET):c.2887+5A>T rs752292538
NM_000245.4(MET):c.2892G>A (p.Leu964=) rs1584955273
NM_000245.4(MET):c.2995G>C (p.Glu999Gln) rs1404824650
NM_000245.4(MET):c.3151G>A (p.Val1051Ile) rs775997318
NM_000245.4(MET):c.3352A>G (p.Ile1118Val) rs755234697
NM_000245.4(MET):c.3991T>G (p.Ser1331Ala) rs1562941559
NM_000245.4(MET):c.4041G>T (p.Glu1347Asp) rs1562941622
NM_000245.4(MET):c.4097C>T (p.Pro1366Leu) rs778084120
NM_000245.4(MET):c.410A>G (p.Asn137Ser) rs1584876716
NM_000245.4(MET):c.4140C>A (p.Asp1380Glu) rs370368651
NM_000245.4(MET):c.465G>T (p.Gln155His) rs863224695
NM_000245.4(MET):c.569A>G (p.Asp190Gly) rs1028165414
NM_000245.4(MET):c.728A>G (p.Asp243Gly) rs1562883992
NM_000245.4(MET):c.850A>G (p.Ile284Val) rs776014448
NM_000245.4(MET):c.925A>C (p.Thr309Pro) rs35601148
NM_000249.3(MLH1):c.-107C>G rs587778886
NM_000249.4(MLH1):c.1038+4A>C rs1251478879
NM_000249.4(MLH1):c.1038+8C>T rs751872237
NM_000249.4(MLH1):c.1039-31_1039-26del rs1178900468
NM_000249.4(MLH1):c.1117G>A (p.Gly373Arg) rs766904735
NM_000249.4(MLH1):c.116+27C>T rs1575377948
NM_000249.4(MLH1):c.1253A>G (p.Asp418Gly) rs754898711
NM_000249.4(MLH1):c.1276C>T (p.Gln426Ter) rs63750316
NM_000249.4(MLH1):c.1278_1279insTG (p.Gln427fs) rs1559553492
NM_000249.4(MLH1):c.1281del (p.Asp428fs) rs1575536988
NM_000249.4(MLH1):c.1387G>T (p.Gly463Ter) rs1559554339
NM_000249.4(MLH1):c.1410-2A>G rs746536721
NM_000249.4(MLH1):c.1420C>G (p.Arg474Gly) rs147939838
NM_000249.4(MLH1):c.1453G>T (p.Asp485Tyr) rs63750314
NM_000249.4(MLH1):c.1500_1502del (p.Ile501del) rs587778920
NM_000249.4(MLH1):c.1559-16A>T rs769709911
NM_000249.4(MLH1):c.1587C>T (p.Ser529=) rs767089159
NM_000249.4(MLH1):c.1615G>T (p.Ala539Ser) rs1559575256
NM_000249.4(MLH1):c.1667+2T>C rs878853780
NM_000249.4(MLH1):c.1690C>T (p.Leu564Phe) rs786202693
NM_000249.4(MLH1):c.1791G>T (p.Trp597Cys) rs1416171624
NM_000249.4(MLH1):c.1853A>C (p.Lys618Thr) rs63750449
NM_000249.4(MLH1):c.1864del (p.Ala623fs) rs1559588540
NM_000249.4(MLH1):c.186A>G (p.Gln62=) rs1559506261
NM_000249.4(MLH1):c.1972del (p.Leu658fs)
NM_000249.4(MLH1):c.1989+11_1989+12del rs2125991370
NM_000249.4(MLH1):c.2027T>C (p.Leu676Pro) rs63750242
NM_000249.4(MLH1):c.204C>G (p.Ile68Met) rs780141938
NM_000249.4(MLH1):c.2065C>T (p.Gln689Ter) rs41542214
NM_000249.4(MLH1):c.2153A>C (p.His718Pro) rs587778983
NM_000249.4(MLH1):c.2262del (p.Arg755fs) rs267607904
NM_000249.4(MLH1):c.253C>T (p.Leu85=) rs63750659
NM_000249.4(MLH1):c.306+6C>T rs746641892
NM_000249.4(MLH1):c.367A>G (p.Lys123Glu) rs63750542
NM_000249.4(MLH1):c.514G>T (p.Glu172Ter) rs1559524405
NM_000249.4(MLH1):c.588+5G>C rs267607768
NM_000249.4(MLH1):c.677G>A (p.Arg226Gln) rs63751711
NM_000249.4(MLH1):c.791-1G>C rs267607795
NM_000249.4(MLH1):c.791-5T>G rs267607788
NM_000249.4(MLH1):c.885-21TC[2] rs267607804
NM_000249.4(MLH1):c.946_954del (p.Phe316_His318del) rs1575509703
NM_000251.2(MSH2):c.-68G>A rs576303132
NM_000251.3(MSH2):c.-21A>T rs776559145
NM_000251.3(MSH2):c.1058del (p.Lys353fs) rs1573456772
NM_000251.3(MSH2):c.1133A>G (p.Glu378Gly) rs876659404
NM_000251.3(MSH2):c.1147C>T (p.Arg383Ter) rs63749849
NM_000251.3(MSH2):c.1165C>T (p.Arg389Ter) rs587779075
NM_000251.3(MSH2):c.1204C>G (p.Gln402Glu) rs63751412
NM_000251.3(MSH2):c.1226_1227del (p.Gln409fs) rs63750086
NM_000251.3(MSH2):c.1286A>C (p.Gln429Pro) rs1558493372
NM_000251.3(MSH2):c.1307T>C (p.Phe436Ser) rs1573519324
NM_000251.3(MSH2):c.1327C>A (p.Leu443Ile) rs876659906
NM_000251.3(MSH2):c.1331G>A (p.Arg444His) rs557339938
NM_000251.3(MSH2):c.1389G>T (p.Val463=) rs1553365702
NM_000251.3(MSH2):c.1511-1G>T rs267607964
NM_000251.3(MSH2):c.1547G>A (p.Ser516Asn) rs373564353
NM_000251.3(MSH2):c.1595T>C (p.Val532Ala) rs754778750
NM_000251.3(MSH2):c.1661+1G>A rs267607969
NM_000251.3(MSH2):c.1661+1G>T rs267607969
NM_000251.3(MSH2):c.1746C>T (p.Val582=) rs786201486
NM_000251.3(MSH2):c.174dup (p.Lys59fs) rs1672250622
NM_000251.3(MSH2):c.1801_1805del (p.Gln601fs) rs1573566488
NM_000251.3(MSH2):c.1813G>A (p.Val605Ile) rs730881777
NM_000251.3(MSH2):c.1946C>T (p.Ala649Val) rs876659816
NM_000251.3(MSH2):c.198C>G (p.Tyr66Ter) rs730881784
NM_000251.3(MSH2):c.1A>G (p.Met1Val) rs267607911
NM_000251.3(MSH2):c.2005+59_2005+61dup rs76761634
NM_000251.3(MSH2):c.2005+8dup rs267607992
NM_000251.3(MSH2):c.2008C>T (p.Pro670Ser) rs1558519495
NM_000251.3(MSH2):c.2009C>A (p.Pro670His) rs41294982
NM_000251.3(MSH2):c.2012A>G (p.Asn671Ser) rs1558519505
NM_000251.3(MSH2):c.212-1G>T rs267607914
NM_000251.3(MSH2):c.212-3_213del rs1573436131
NM_000251.3(MSH2):c.2152C>T (p.Gln718Ter) rs587779139
NM_000251.3(MSH2):c.2210+8C>T rs778020437
NM_000251.3(MSH2):c.2211-1G>C rs267607979
NM_000251.3(MSH2):c.2243A>T (p.Asp748Val) rs1558521518
NM_000251.3(MSH2):c.2276G>A (p.Gly759Glu) rs386833406
NM_000251.3(MSH2):c.2287G>C (p.Ala763Pro) rs1318630651
NM_000251.3(MSH2):c.2299del (p.Ser767fs) rs1573574024
NM_000251.3(MSH2):c.2332dup (p.Cys778fs) rs1573574188
NM_000251.3(MSH2):c.2335A>G (p.Met779Val) rs1114167843
NM_000251.3(MSH2):c.2352del (p.His785fs) rs1667395869
NM_000251.3(MSH2):c.2393A>G (p.Asn798Ser) rs786204073
NM_000251.3(MSH2):c.2417C>T (p.Thr806Ile) rs758889557
NM_000251.3(MSH2):c.2459-12A>G rs267608012
NM_000251.3(MSH2):c.2459-46G>A rs1573578232
NM_000251.3(MSH2):c.2459G>A (p.Gly820Asp) rs794729229
NM_000251.3(MSH2):c.2461_2462del (p.Val821fs) rs1114167828
NM_000251.3(MSH2):c.2533A>G (p.Lys845Glu) rs63750571
NM_000251.3(MSH2):c.2575G>A (p.Glu859Lys) rs63749830
NM_000251.3(MSH2):c.2581C>T (p.Gln861Ter) rs63750291
NM_000251.3(MSH2):c.2647A>G (p.Ile883Val) rs2104459470
NM_000251.3(MSH2):c.2666C>T (p.Ser889Phe) rs1553370845
NM_000251.3(MSH2):c.2714C>G (p.Thr905Arg) rs267608022
NM_000251.3(MSH2):c.271G>T (p.Asp91Tyr) rs1558457163
NM_000251.3(MSH2):c.273TCT[2] (p.Leu94del) rs267607919
NM_000251.3(MSH2):c.2766T>G (p.Phe922Leu) rs55859129
NM_000251.3(MSH2):c.2801C>T (p.Thr934Met) rs587779969
NM_000251.3(MSH2):c.356T>A (p.Leu119Ter) rs1573437173
NM_000251.3(MSH2):c.358G>A (p.Ala120Thr) rs2103985139
NM_000251.3(MSH2):c.448G>T (p.Val150Phe) rs1558459157
NM_000251.3(MSH2):c.507A>G (p.Ile169Met) rs748762580
NM_000251.3(MSH2):c.593A>G (p.Glu198Gly) rs63750327
NM_000251.3(MSH2):c.631G>C (p.Gly211Arg) rs587780689
NM_000251.3(MSH2):c.644del (p.Gln215fs) rs1558459885
NM_000251.3(MSH2):c.645+1G>T rs267607689
NM_000251.3(MSH2):c.64T>A (p.Phe22Ile) rs1189127007
NM_000251.3(MSH2):c.67T>C (p.Phe23Leu) rs372619120
NM_000251.3(MSH2):c.698C>T (p.Ser233Phe) rs587781724
NM_000251.3(MSH2):c.721C>T (p.Leu241Phe) rs1410859610
NM_000251.3(MSH2):c.793-10T>G rs1060502016
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+29del 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+29del 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_000251.3(MSH2):c.961A>G (p.Thr321Ala) rs587781550
NM_000251.3(MSH2):c.97A>G (p.Thr33Ala) rs63751107
NM_000251.3(MSH2):c.998G>T (p.Cys333Phe) rs63750828
NM_000252.3(MTM1):c.136+1G>T rs1603124201
NM_000252.3(MTM1):c.490_493del (p.Trp164fs) rs1603184989
NM_000254.3(MTR):c.*16del rs67705775
NM_000254.3(MTR):c.2059_2060del (p.Ile687fs) rs1664521219
NM_000254.3(MTR):c.2482G>A (p.Gly828Ser) rs1413989228
NM_000255.4(MMUT):c.1011T>A (p.Phe337Leu) rs1581831934
NM_000255.4(MMUT):c.1022dup (p.Asn341fs) rs752898811
NM_000255.4(MMUT):c.1196_1197del (p.Val399fs) rs1227030642
NM_000255.4(MMUT):c.1315T>G (p.Tyr439Asp) rs1581829908
NM_000255.4(MMUT):c.1843C>A (p.Pro615Thr) rs1302409621
NM_000255.4(MMUT):c.959C>T (p.Ala320Val) rs1581832011
NM_000256.3(MYBPC3):c.1084A>G (p.Ser362Gly) rs730880633
NM_000256.3(MYBPC3):c.2618C>T (p.Pro873Leu) rs371401403
NM_000256.3(MYBPC3):c.3628-41_3628-17del rs36212066
NM_000257.4(MYH7):c.1748C>T (p.Ala583Val) rs2138672244
NM_000257.4(MYH7):c.2420G>C (p.Arg807Pro) rs141414377
NM_000257.4(MYH7):c.323G>A (p.Arg108His) rs730880832
NM_000257.4(MYH7):c.3337-4dup rs45504498
NM_000257.4(MYH7):c.3621C>G (p.Ile1207Met) rs529700838
NM_000257.4(MYH7):c.3748C>G (p.Arg1250Gly) rs727503249
NM_000257.4(MYH7):c.4399C>G (p.Leu1467Val) rs397516214
NM_000257.4(MYH7):c.4992C>A (p.Asn1664Lys) rs763538103
NM_000257.4(MYH7):c.715G>A (p.Asp239Asn) rs397516264
NM_000257.4(MYH7):c.746G>T (p.Arg249Leu) rs3218713
NM_000258.3(MYL3):c.157+1G>A rs2106910461
NM_000260.4(MYO7A):c.1046C>A (p.Ser349Tyr) rs782432573
NM_000260.4(MYO7A):c.1198_1199dup (p.Gly401fs) rs1591287317
NM_000260.4(MYO7A):c.183del (p.Thr62fs) rs1446588093
NM_000260.4(MYO7A):c.2617C>T (p.Arg873Trp) rs200454015
NM_000260.4(MYO7A):c.2750del (p.Glu917fs) rs1591378140
NM_000260.4(MYO7A):c.285+2T>C rs782292032
NM_000260.4(MYO7A):c.3503+12_3503+33del rs111033223
NM_000260.4(MYO7A):c.4489G>C (p.Gly1497Arg) rs751769391
NM_000260.4(MYO7A):c.5095C>T (p.Gln1699Ter) rs530520654
NM_000260.4(MYO7A):c.5227C>T (p.Arg1743Trp) rs111033287
NM_000260.4(MYO7A):c.5860C>A (p.Leu1954Ile) rs948962
NM_000260.4(MYO7A):c.6439-1G>A rs1591514873
NM_000261.2(MYOC):c.57G>T (p.Gln19His) rs2234925
NM_000263.4(NAGLU):c.1004A>C (p.Tyr335Ser) rs768918822
NM_000263.4(NAGLU):c.245G>A (p.Gly82Asp) rs1599253815
NM_000263.4(NAGLU):c.911G>T (p.Gly304Val) rs1599258487
NM_000264.5(PTCH1):c.1016A>G (p.Glu339Gly) rs777696239
NM_000264.5(PTCH1):c.1055del (p.Gly352fs) rs2118388096
NM_000264.5(PTCH1):c.1328C>G (p.Ala443Gly) rs878853845
NM_000264.5(PTCH1):c.1347+6G>A rs372655486
NM_000264.5(PTCH1):c.1579C>T (p.Gln527Ter) rs1554698260
NM_000264.5(PTCH1):c.1737AGT[1] (p.Val582del) rs1588578556
NM_000264.5(PTCH1):c.1848-3C>G rs2118062649
NM_000264.5(PTCH1):c.1946G>T (p.Ser649Ile) rs2118051663
NM_000264.5(PTCH1):c.2513_2516del (p.Lys838fs) rs1588568477
NM_000264.5(PTCH1):c.3281_3282dup (p.Glu1095fs) rs1588535437
NM_000264.5(PTCH1):c.3467T>G (p.Leu1156Arg) rs1838315058
NM_000264.5(PTCH1):c.40GGC[3] (p.Gly17del) rs756897237
NM_000264.5(PTCH1):c.654+1G>A rs2118471978
NM_000264.5(PTCH1):c.915dup (p.Ala306fs) rs2118413937
NM_000266.4(NDP):c.1A>G (p.Met1Val) rs28933685
NM_000267.3(NF1):c.730+32dup rs71142032
NM_000268.4(NF2):c.-142del rs1569259403
NM_000268.4(NF2):c.1059G>C (p.Arg353Ser) rs1379674036
NM_000268.4(NF2):c.1060del (p.Asp354fs) rs1601644146
NM_000268.4(NF2):c.1113C>G (p.Asn371Lys) rs142459414
NM_000268.4(NF2):c.1229del (p.Gln410fs) rs1601648452
NM_000268.4(NF2):c.1340+2T>G rs1601649049
NM_000268.4(NF2):c.1724A>G (p.Asn575Ser) rs1569312127
NM_000268.4(NF2):c.179_185del (p.Trp60fs) rs1601579095
NM_000268.4(NF2):c.215T>C (p.Val72Ala) rs1260510937
NM_000268.4(NF2):c.223_240+8del rs1601579295
NM_000268.4(NF2):c.349T>G (p.Leu117Val) rs1569281810
NM_000268.4(NF2):c.363+9G>T rs1601583861
NM_000268.4(NF2):c.401C>T (p.Pro134Leu) rs1029716358
NM_000268.4(NF2):c.493C>T (p.Gln165Ter) rs1601611973
NM_000268.4(NF2):c.586C>T (p.Arg196Ter) rs1555993336
NM_000268.4(NF2):c.600-2A>G rs1601618501
NM_000268.4(NF2):c.610G>C (p.Glu204Gln) rs1569295916
NM_000268.4(NF2):c.745_752del (p.Arg249fs) rs1601624078
NM_000268.4(NF2):c.810+1G>A rs794728682
NM_000268.4(NF2):c.810+2T>C rs1601624296
NM_000268.4(NF2):c.817A>G (p.Ile273Val) rs1368184325
NM_000268.4(NF2):c.876del (p.Asn293fs) rs2147033768
NM_000268.4(NF2):c.933del (p.Ala313fs) rs1601636894
NM_000271.5(NPC1):c.114_122del (p.Lys38_Tyr40del) rs1599011473
NM_000271.5(NPC1):c.2594C>T (p.Ser865Leu) rs1160114136
NM_000271.5(NPC1):c.2660C>T (p.Pro887Leu) rs1169032037
NM_000271.5(NPC1):c.2842G>A (p.Asp948Asn) rs1261939149
NM_000271.5(NPC1):c.3662del (p.Phe1221fs) rs786200878
NM_000271.5(NPC1):c.451_452del (p.Ser151fs) rs749012588
NM_000271.5(NPC1):c.57+4A>G rs1057519229
NM_000276.4(OCRL):c.1458G>A (p.Trp486Ter) rs2124410812
NM_000276.4(OCRL):c.1713+2T>C rs2124417909
NM_000276.4(OCRL):c.217_218del (p.Leu73fs) rs2124392540
NM_000276.4(OCRL):c.40-80dup rs369736288
NM_000277.1(PAH):c.[353-507G>T;754C>T]
NM_000277.3(PAH):c.1085C>G (p.Pro362Arg) rs1592947563
NM_000277.3(PAH):c.1098_1099insTCTTATCAGAGAAGCCAAAGCTTCTCCCC (p.Leu367fs) rs1592947538
NM_000277.3(PAH):c.168+5G>A rs62507288
NM_000277.3(PAH):c.239dup (p.Thr81fs) rs1592978816
NM_000277.3(PAH):c.500A>G (p.Asn167Ser) rs77554925
NM_000277.3(PAH):c.722G>A (p.Arg241His) rs62508730
NM_000278.5(PAX2):c.756_792+4del rs2133950547
NM_000281.4(PCBD1):c.272del (p.Asn91fs) rs1589483932
NM_000282.4(PCCA):c.1994dup (p.Met666fs) rs1323994245
NM_000282.4(PCCA):c.562_573del (p.Glu188_Thr191del) rs2152478820
NM_000282.4(PCCA):c.843del (p.Asn281fs) rs1555400381
NM_000283.4(PDE6B):c.2021+2T>G rs1577301589
NM_000283.4(PDE6B):c.2395C>T (p.Arg799Ter) rs970990957
NM_000283.4(PDE6B):c.2442T>A (p.Tyr814Ter) rs1577311264
NM_000284.4(PDHA1):c.1136G>T (p.Gly379Val) rs2147189334
NM_000284.4(PDHA1):c.380G>A (p.Arg127Gln) rs2063162114
NM_000284.4(PDHA1):c.422G>A (p.Arg141Gln) rs794729213
NM_000284.4(PDHA1):c.822_826dup (p.Gly276fs) rs1602228017
NM_000285.4(PEPD):c.692_694del (p.Tyr231del) rs745834191
NM_000286.3(PEX12):c.362TTC[2] (p.Leu123del) rs751058068
NM_000287.4(PEX6):c.1565G>A (p.Arg522Gln) rs374396138
NM_000287.4(PEX6):c.2578C>T (p.Arg860Trp) rs61753230
NM_000291.4(PGK1):c.1072G>A (p.Glu358Lys) rs1603398740
NM_000292.3(PHKA2):c.1138-2A>G rs1601748216
NM_000292.3(PHKA2):c.1210C>T (p.Gln404Ter) rs2147934341
NM_000292.3(PHKA2):c.1324+1G>A rs1289077489
NM_000292.3(PHKA2):c.133C>T (p.Arg45Trp) rs1601781031
NM_000292.3(PHKA2):c.1541G>A (p.Arg514Lys) rs2048198507
NM_000292.3(PHKA2):c.2735T>C (p.Met912Thr) rs1158193880
NM_000292.3(PHKA2):c.2785G>C (p.Ala929Pro) rs1324893950
NM_000292.3(PHKA2):c.314_317del (p.Thr105fs) rs1601776523
NM_000292.3(PHKA2):c.3383T>C (p.Leu1128Pro) rs797044921
NM_000292.3(PHKA2):c.3397C>T (p.Gln1133Ter) rs1601687244
NM_000292.3(PHKA2):c.395A>C (p.His132Pro) rs137852291
NM_000292.3(PHKA2):c.557G>C (p.Arg186Pro) rs137852290
NM_000292.3(PHKA2):c.883C>T (p.Arg295Cys) rs797045008
NM_000292.3(PHKA2):c.884G>T (p.Arg295Leu) rs797044877
NM_000292.3(PHKA2):c.919-1G>A rs2147954328
NM_000293.3(PHKB):c.1688C>A (p.Ser563Ter) rs1292721679
NM_000294.3(PHKG2):c.1070T>C (p.Leu357Pro) rs762089284
NM_000294.3(PHKG2):c.657del (p.Cys219fs) rs1596687555
NM_000294.3(PHKG2):c.927+1G>A rs1445993948
NM_000295.4(SERPINA1):c.1093G>A (p.Asp365Asn) rs143370956
NM_000295.5(SERPINA1):c.514G>A (p.Gly172Arg) rs112030253
NM_000297.4(PKD2):c.290AGG[7] (p.Glu102dup) rs750077647
NM_000302.4(PLOD1):c.1479dup (p.Met494fs) rs1569724692
NM_000303.3(PMM2):c.317A>T (p.Tyr106Phe) rs387906824
NM_000303.3(PMM2):c.640G>A (p.Gly214Ser) rs1555453238
NM_000304.4(PMP22):c.78+3G>T rs1597635528
NM_000311.5(PRNP):c.246_269del (p.60_67PHGGGWGQ[3]) rs138688873
NM_000311.5(PRNP):c.305C>T (p.Pro102Leu) rs74315401
NM_000313.4(PROS1):c.119G>T (p.Arg40Leu) rs7614835
NM_000313.4(PROS1):c.1871-14T>G rs754929347
NM_000314.6(PTEN):c.-845A>C rs786204861
NM_000314.6(PTEN):c.-868G>C rs587782133
NM_000314.8(PTEN):c.*3448_*3463dup rs763859619
NM_000314.8(PTEN):c.*3449_*3463dup rs763859619
NM_000314.8(PTEN):c.-482_-474del rs1226857287
NM_000314.8(PTEN):c.-513G>C rs546504608
NM_000314.8(PTEN):c.-802G>A rs876661166
NM_000314.8(PTEN):c.1016C>A (p.Pro339Gln) rs1564568679
NM_000314.8(PTEN):c.1034T>G (p.Leu345Arg) rs1554826024
NM_000314.8(PTEN):c.105G>A (p.Met35Ile) rs1554893782
NM_000314.8(PTEN):c.1064C>T (p.Ser355Leu) rs2132289421
NM_000314.8(PTEN):c.209+2T>C rs878853937
NM_000314.8(PTEN):c.210-7_210-3del rs587780544
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.256G>A (p.Ala86Thr) rs1564829780
NM_000314.8(PTEN):c.2T>C (p.Met1Thr) rs1858394001
NM_000314.8(PTEN):c.344A>G (p.Asp115Gly) rs869312775
NM_000314.8(PTEN):c.35A>G (p.Asn12Ser) rs1085308044
NM_000314.8(PTEN):c.385G>A (p.Gly129Arg) rs786204929
NM_000314.8(PTEN):c.492+3A>G rs1564830529
NM_000314.8(PTEN):c.493-27G>T rs1589659262
NM_000314.8(PTEN):c.499A>G (p.Thr167Ala) rs1210737543
NM_000314.8(PTEN):c.577C>T (p.Leu193=) rs772631069
NM_000314.8(PTEN):c.592ATG[1] (p.Met199del) rs1064793244
NM_000314.8(PTEN):c.599T>C (p.Phe200Ser) rs786204867
NM_000314.8(PTEN):c.633C>A (p.Cys211Ter) rs121909232
NM_000314.8(PTEN):c.71A>G (p.Asp24Gly) rs797044910
NM_000314.8(PTEN):c.739_740insAGT (p.Leu247Ter) rs1589663442
NM_000314.8(PTEN):c.80-1_80del rs1554893747
NM_000314.8(PTEN):c.802-3dup rs34003473
NM_000314.8(PTEN):c.802-5_802-3del rs34003473
NM_000314.8(PTEN):c.802-5_802-3dup rs34003473
NM_000314.8(PTEN):c.810G>T (p.Met270Ile) rs1195369834
NM_000314.8(PTEN):c.94ATT[1] (p.Ile33del) rs1554893765
NM_000314.8(PTEN):c.955_956insTCTGACAAGGAATATCTAGTACTTA (p.Thr319delinsIleTer) rs1589665998
NM_000316.3(PTH1R):c.639-2A>G rs2107039234
NM_000316.3(PTH1R):c.668A>G (p.His223Arg) rs121434597
NM_000317.3(PTS):c.146A>G (p.His49Arg) rs750229518
NM_000320.3(QDPR):c.174del (p.Ser59fs) rs1577195951
NM_000320.3(QDPR):c.421del (p.Leu141fs) rs1577191558
NM_000321.3(RB1):c.1016A>G (p.His339Arg) rs1566194383
NM_000321.3(RB1):c.1031A>G (p.Gln344Arg) rs1566194400
NM_000321.3(RB1):c.1111C>T (p.Pro371Ser) rs1952727399
NM_000321.3(RB1):c.1128-45C>T rs1285629437
NM_000321.3(RB1):c.1216-2A>G rs1593453973
NM_000321.3(RB1):c.124C>G (p.Leu42Val) rs1312883856
NM_000321.3(RB1):c.1399C>G (p.Arg467Gly) rs398123331
NM_000321.3(RB1):c.1720A>G (p.Lys574Glu) rs1593529910
NM_000321.3(RB1):c.1753C>T (p.His585Tyr) rs1401332173
NM_000321.3(RB1):c.1970dup (p.Ala658fs) rs2138335833
NM_000321.3(RB1):c.1973C>A (p.Ala658Asp) rs587778834
NM_000321.3(RB1):c.2027T>C (p.Leu676Ser) rs1566235448
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_000321.3(RB1):c.2441A>G (p.Lys814Arg) rs1566237785
NM_000321.3(RB1):c.2447C>A (p.Ser816Ter) rs1593539493
NM_000321.3(RB1):c.2490-1530_*109del
NM_000321.3(RB1):c.2521-4G>T rs902298592
NM_000321.3(RB1):c.32_63del (p.Ala11fs) rs1593411974
NM_000321.3(RB1):c.381-2A>T rs1952480014
NM_000321.3(RB1):c.606del (p.Glu204fs) rs1593438023
NM_000321.3(RB1):c.607G>C (p.Gly203Arg) rs1012377281
NM_000321.3(RB1):c.611_612insTTTTTT (p.Glu204delinsAspPheLeu) rs1593443469
NM_000321.3(RB1):c.649del (p.Gln217fs) rs1593443514
NM_000321.3(RB1):c.940G>T (p.Val314Phe) rs1566194312
NM_000322.5(PRPH2):c.227C>A (p.Ser76Ter) rs1203908646
NM_000322.5(PRPH2):c.2T>G (p.Met1Arg) rs121918565
NM_000322.5(PRPH2):c.535T>G (p.Trp179Gly) rs61755796
NM_000322.5(PRPH2):c.584G>A (p.Arg195Gln) rs121918567
NM_000322.5(PRPH2):c.635G>C (p.Ser212Thr) rs61755801
NM_000322.5(PRPH2):c.737G>A (p.Trp246Ter) rs1582764697
NM_000322.5(PRPH2):c.829-4C>G rs1582759785
NM_000322.5(PRPH2):c.914G>A (p.Gly305Asp) rs61748432
NM_000326.5(RLBP1):c.504_508del (p.Ser168fs) rs1379405913
NM_000328.3(RPGR):c.2066A>T (p.Asp689Val) rs2147168869
NM_000328.3(RPGR):c.2149+4T>G rs945212131
NM_000329.2(RPE65):c.292_311del (p.Ile98Hisfs) rs62642583
NM_000329.3(RPE65):c.1004A>T (p.Glu335Val) rs1571164534
NM_000329.3(RPE65):c.1101A>G (p.Arg367=) rs1553152989
NM_000329.3(RPE65):c.1243G>A (p.Ala415Thr) rs1571158755
NM_000329.3(RPE65):c.1583G>T (p.Gly528Val) rs1193631220
NM_000330.4(RS1):c.185-3221G>A rs374054249
NM_000335.5(SCN5A):c.1126C>T (p.Arg376Cys) rs199473100
NM_000335.5(SCN5A):c.1372C>T (p.Arg458Cys) rs752130196
NM_000335.5(SCN5A):c.1715C>T (p.Ala572Val) rs36210423
NM_000335.5(SCN5A):c.1756_1761del (p.Ala586_Leu587del) rs397517953
NM_000335.5(SCN5A):c.1940C>A (p.Ala647Asp) rs185638763
NM_000335.5(SCN5A):c.283G>A (p.Val95Ile) rs199473054
NM_000335.5(SCN5A):c.3454C>T (p.Gln1152Ter) rs1575751854
NM_000335.5(SCN5A):c.373G>C (p.Val125Leu) rs199473059
NM_000335.5(SCN5A):c.3923G>A (p.Arg1308His) rs537423012
NM_000335.5(SCN5A):c.481G>A (p.Glu161Lys) rs199473062
NM_000337.6(SGCD):c.226G>T (p.Gly76Cys) rs376659221
NM_000337.6(SGCD):c.699+13_699+15del rs397517924
NM_000338.3(SLC12A1):c.1833del (p.Phe611fs) rs1057520304
NM_000340.2(SLC2A2):c.682C>T (p.Arg228Ter) rs773581866
NM_000342.4(SLC4A1):c.1801-2A>G rs2144607086
NM_000342.4(SLC4A1):c.2278C>T (p.Arg760Trp) rs373916826
NM_000343.4(SLC5A1):c.1496G>C (p.Arg499Pro) rs927157864
NM_000343.4(SLC5A1):c.1695del (p.Asn565fs) rs1455367784
NM_000346.4(SOX9):c.1061_1069del (p.Pro354_Pro356del) rs761585795
NM_000346.4(SOX9):c.1309C>T (p.Arg437Cys) rs1189441865
NM_000350.3(ABCA4):c.1025_1038del (p.Asp342fs) rs63749083
NM_000350.3(ABCA4):c.1846G>A (p.Glu616Lys) rs1557787473
NM_000350.3(ABCA4):c.2007G>C (p.Met669Ile) rs545963645
NM_000350.3(ABCA4):c.2161-1G>A rs1401924846
NM_000350.3(ABCA4):c.2537A>G (p.Asp846Gly) rs779466403
NM_000350.3(ABCA4):c.2587+1G>A rs61749439
NM_000350.3(ABCA4):c.2587+2T>C rs1557783989
NM_000350.3(ABCA4):c.286A>G (p.Asn96Asp) rs61748529
NM_000350.3(ABCA4):c.2888del (p.Gly963fs) rs61752410
NM_000350.3(ABCA4):c.2919-2A>G rs1660626613
NM_000350.3(ABCA4):c.3210_3211dup (p.Ser1071fs) rs387906385
NM_000350.3(ABCA4):c.3385C>G (p.Arg1129Gly) rs779426136
NM_000350.3(ABCA4):c.3664_3669del (p.Val1222_Glu1223del) rs1570367367
NM_000350.3(ABCA4):c.3698T>C (p.Leu1233Pro) rs1366653130
NM_000350.3(ABCA4):c.36G>A (p.Trp12Ter) rs761209432
NM_000350.3(ABCA4):c.3729T>A (p.Tyr1243Ter) rs1570367230
NM_000350.3(ABCA4):c.3862+1G>A rs61751400
NM_000350.3(ABCA4):c.4003_4004del (p.Pro1335fs) rs1571265241
NM_000350.3(ABCA4):c.4036_4037del (p.Thr1346fs) rs61751401
NM_000350.3(ABCA4):c.4108del (p.His1370fs) rs1571265125
NM_000350.3(ABCA4):c.4571del (p.Asp1524fs) rs2101027758
NM_000350.3(ABCA4):c.4734_4739del (p.Phe1579_Leu1580del) rs1571258440
NM_000350.3(ABCA4):c.5012_5016del (p.Ile1671fs) rs1571257754
NM_000350.3(ABCA4):c.5044_5058del (p.Val1682_Val1686del) rs62646872
NM_000350.3(ABCA4):c.5196+1056A>G rs886044749
NM_000350.3(ABCA4):c.5196+1136C>A rs114147805
NM_000350.3(ABCA4):c.5655del (p.Val1887fs) rs1659524475
NM_000350.3(ABCA4):c.5714+1G>T rs1232476760
NM_000350.3(ABCA4):c.5932A>G (p.Lys1978Glu) rs1064793014
NM_000350.3(ABCA4):c.6007A>T (p.Ile2003Phe) rs1170554250
NM_000350.3(ABCA4):c.618C>G (p.Ser206Arg) rs61748536
NM_000350.3(ABCA4):c.6221del (p.Gly2074fs) rs1571243037
NM_000350.3(ABCA4):c.6238_6239del (p.Ser2080fs) rs281865382
NM_000350.3(ABCA4):c.6329G>A (p.Trp2110Ter) rs62642565
NM_000350.3(ABCA4):c.6386G>A (p.Ser2129Asn) rs1571242070
NM_000350.3(ABCA4):c.6471del (p.Lys2158fs) rs1373168392
NM_000350.3(ABCA4):c.982G>T (p.Glu328Ter) rs61751418
NM_000352.6(ABCC8):c.4412-13G>A rs1008906426
NM_000352.6(ABCC8):c.598del (p.Thr200fs) rs1591890137
NM_000352.6(ABCC8):c.683G>A (p.Gly228Asp) rs863225280
NM_000352.6(ABCC8):c.695G>A (p.Trp232Ter) rs1564977373
NM_000353.3(TAT):c.707-2A>G rs1005382525
NM_000355.4(TCN2):c.249_255dup (p.Gly86fs) rs1602043738
NM_000358.3(TGFBI):c.1501C>A (p.Pro501Thr) rs121909212
NM_000360.4(TH):c.293_295dup (p.Arg98_Ala99insGly) rs1590170978
NM_000360.4(TH):c.628G>A (p.Ala210Thr) rs1260455415
NM_000360.4(TH):c.724C>T (p.Leu242Phe) rs1457094087
NM_000360.4(TH):c.815T>G (p.Leu272Arg) rs775410637
NM_000363.5(TNNI3):c.12-7del rs370714315
NM_000363.5(TNNI3):c.130T>G (p.Ser44Ala) rs2147285302
NM_000368.5(TSC1):c.1029+1G>A rs118203485
NM_000368.5(TSC1):c.1129T>C (p.Phe377Leu) rs1845926660
NM_000368.5(TSC1):c.1333+9T>A rs747629498
NM_000368.5(TSC1):c.1389del (p.Gly464fs) rs1588312765
NM_000368.5(TSC1):c.1515_1516del (p.Pro506fs) rs281875358
NM_000368.5(TSC1):c.1997+1G>T rs118203610
NM_000368.5(TSC1):c.2027G>A (p.Trp676Ter) rs1554815454
NM_000368.5(TSC1):c.2440del (p.Glu813_Leu814insTer) rs1588299201
NM_000368.5(TSC1):c.2503-2A>G rs118203704
NM_000368.5(TSC1):c.2626-3_2626-2insT rs760737807
NM_000368.5(TSC1):c.461del (p.Phe154fs) rs1588350477
NM_000368.5(TSC1):c.492G>A (p.Trp164Ter) rs1554819870
NM_000368.5(TSC1):c.998del (p.Pro333fs) rs1564488773
NM_000369.5(TSHR):c.1429A>C (p.Thr477Pro) rs1595178231
NM_000370.3(TTPA):c.172G>C (p.Ala58Pro) rs982650476
NM_000370.3(TTPA):c.359-3del rs398123340
NM_000371.4(TTR):c.116C>A (p.Ala39Asp) rs11541795
NM_000371.4(TTR):c.11A>T (p.His4Leu) rs1157253322
NM_000371.4(TTR):c.128G>A (p.Ser43Asn) rs1598844112
NM_000371.4(TTR):c.200G>A (p.Gly67Glu) rs121918090
NM_000371.4(TTR):c.220G>A (p.Glu74Lys) rs1555631393
NM_000371.4(TTR):c.265T>C (p.Tyr89His) rs121918100
NM_000371.4(TTR):c.277A>G (p.Ile93Val) rs1598845164
NM_000371.4(TTR):c.325G>A (p.Glu109Lys) rs121918082
NM_000371.4(TTR):c.379A>G (p.Ile127Val) rs121918089
NM_000374.5(UROD):c.243CAT[1] (p.Ile83del) rs763083464
NM_000374.5(UROD):c.703C>T (p.Pro235Ser) rs141312224
NM_000374.5(UROD):c.904C>T (p.Gln302Ter) rs1569967143
NM_000374.5(UROD):c.995G>A (p.Arg332His) rs121918066
NM_000376.3(VDR):c.702C>A (p.Val234=)
NM_000377.3(WAS):c.1058del (p.Pro353fs) rs1557007165
NM_000377.3(WAS):c.190T>C (p.Trp64Arg) rs2147262851
NM_000377.3(WAS):c.533C>T (p.Pro178Leu) rs2062419034
NM_000377.3(WAS):c.734+5G>A rs1602178267
NM_000377.3(WAS):c.881T>C (p.Ile294Thr) rs387906717
NM_000379.4(XDH):c.2969+66dup rs11408029
NM_000381.4(MID1):c.757-10756G>A rs2147339071
NM_000382.3(ALDH3A2):c.608del (p.Pro203fs)
NM_000382.3(ALDH3A2):c.946del (p.Thr316fs)
NM_000383.4(AIRE):c.1095+78del rs5844181
NM_000383.4(AIRE):c.117del (p.Glu40fs) rs1248788128
NM_000383.4(AIRE):c.415C>T (p.Arg139Ter) rs121434256
NM_000384.3(APOB):c.11683A>C (p.Asn3895His) rs2103350346
NM_000384.3(APOB):c.13392_13393del (p.Lys4465fs) rs2103346437
NM_000384.3(APOB):c.13477CAG[1] (p.Gln4494del) rs562574661
NM_000384.3(APOB):c.1468C>T (p.Arg490Trp) rs771541567
NM_000384.3(APOB):c.1853C>T (p.Ala618Val)
NM_000384.3(APOB):c.2245G>T (p.Asp749Tyr) rs1663700975
NM_000384.3(APOB):c.3491G>C (p.Arg1164Thr)
NM_000384.3(APOB):c.4651C>T (p.Gln1551Ter)
NM_000384.3(APOB):c.509_515del (p.Thr170fs) rs1572802096
NM_000384.3(APOB):c.6640G>A (p.Glu2214Lys) rs1239957664
NM_000384.3(APOB):c.8216C>T (p.Pro2739Leu)
NM_000384.3(APOB):c.9152_9155del (p.Asn3051fs) rs1558562316
NM_000384.3(APOB):c.9835A>G (p.Ser3279Gly)
NM_000388.4(CASR):c.11A>G (p.Tyr4Cys) rs1171102282
NM_000388.4(CASR):c.139A>G (p.Lys47Glu) rs2107624989
NM_000388.4(CASR):c.2153G>T (p.Trp718Leu) rs961879608
NM_000388.4(CASR):c.2482A>C (p.Thr828Pro) rs794729230
NM_000388.4(CASR):c.3064G>A (p.Asp1022Asn) rs2107651862
NM_000388.4(CASR):c.503C>T (p.Ala168Val) rs1576857840
NM_000390.4(CHM):c.1053_1056dup (p.Asp353fs) rs1603262410
NM_000390.4(CHM):c.1350-1G>A rs2148153587
NM_000390.4(CHM):c.1573C>T (p.Gln525Ter) rs1603236385
NM_000390.4(CHM):c.1645G>C (p.Ala549Pro) rs1603234322
NM_000390.4(CHM):c.1651_1655del (p.Tyr551fs) rs1924193863
NM_000390.4(CHM):c.1680del (p.Ser561fs) rs1556207100
NM_000390.4(CHM):c.29_30del (p.Asp10fs) rs1603288815
NM_000390.4(CHM):c.437T>G (p.Leu146Ter) rs2147676177
NM_000390.4(CHM):c.820-2A>G rs1556307713
NM_000390.4(CHM):c.961del (p.Tyr321fs) rs2147663454
NM_000391.4(TPP1):c.1048C>T (p.Arg350Trp) rs1554901784
NM_000391.4(TPP1):c.184_185del (p.Ser62fs) rs1554902216
NM_000391.4(TPP1):c.380+5G>A rs1564855725
NM_000391.4(TPP1):c.687+1G>C rs1465284719
NM_000391.4(TPP1):c.899del (p.Gly300fs) rs2134593910
NM_000393.5(COL5A2):c.4163C>A (p.Thr1388Asn) rs771415085
NM_000396.4(CTSK):c.243+4A>T rs2101953449
NM_000396.4(CTSK):c.826C>T (p.His276Tyr) rs1571123333
NM_000396.4(CTSK):c.83dup (p.Trp29fs) rs2101954034
NM_000397.4(CYBB):c.1326C>A (p.Tyr442Ter) rs1602184316
NM_000397.4(CYBB):c.66C>A (p.Asn22Lys) rs193922450
NM_000398.7(CYB5R3):c.226+2T>C rs1601938489
NM_000399.5(EGR2):c.1064A>G (p.Asp355Gly) rs1589080611
NM_000399.5(EGR2):c.1152C>A (p.His384Gln) rs2132702519
NM_000399.5(EGR2):c.1352G>T (p.Gly451Val) rs138967272
NM_000400.4(ERCC2):c.1845G>A (p.Gly615=) rs1599725250
NM_000400.4(ERCC2):c.851del (p.Glu284fs) rs2123288444
NM_000400.4(ERCC2):c.949+5G>A rs899469885
NM_000402.4(G6PD):c.221C>G (p.Ala74Gly) rs78478128
NM_000402.4(G6PD):c.482G>T (p.Gly161Val) rs137852341
NM_000402.4(G6PD):c.577G>A (p.Gly193Ser) rs137852314
NM_000402.4(G6PD):c.683G>A (p.Arg228His) rs137852332
NM_000404.2(GLB1):c.[1285C>T;1097C>A]
NM_000404.4(GLB1):c.1264C>T (p.Leu422Phe) rs2125470035
NM_000404.4(GLB1):c.1577dup (p.Trp527fs) rs794729217
NM_000404.4(GLB1):c.395T>C (p.Met132Thr) rs1553612189
NM_000404.4(GLB1):c.553-2A>T rs2125533195
NM_000404.4(GLB1):c.591dup (p.Asp198Ter) rs2125533127
NM_000404.4(GLB1):c.846del (p.Thr283fs) rs1553610382
NM_000405.5(GM2A):c.333del (p.Cys112fs) rs587779405
NM_000414.3(HSD17B4):c.[64G>T];[819G>T]
NM_000414.4(HSD17B4):c.1993+1G>A rs1580711803
NM_000414.4(HSD17B4):c.421C>T (p.Gln141Ter) rs2126696915
NM_000414.4(HSD17B4):c.532C>T (p.Leu178Phe) rs1307944675
NM_000416.3(IFNGR1):c.547-42A>T rs1236009877
NM_000416.3(IFNGR1):c.547-48_547-45del rs1456987322
NM_000416.3(IFNGR1):c.86-1_93del rs753213766
NM_000419.5(ITGA2B):c.1374C>G (p.Ile458Met) rs372294932
NM_000423.3(KRT2):c.1459G>A (p.Glu487Lys) rs137852629
NM_000424.4(KRT5):c.1427G>A (p.Gly476Asp) rs56922686
NM_000424.4(KRT5):c.1429G>A (p.Glu477Lys) rs59190510
NM_000424.4(KRT5):c.579C>A (p.Asn193Lys) rs60586163
NM_000426.3(LAMA2):c.[2461A>C;8282T>C]
NM_000426.4(LAMA2):c.1255del (p.Ile419fs) rs1185229314
NM_000426.4(LAMA2):c.1893_1897del (p.Asp631fs) rs746844753
NM_000426.4(LAMA2):c.2049_2050del (p.Arg683fs) rs202247790
NM_000426.4(LAMA2):c.3235T>C (p.Cys1079Arg) rs1583469739
NM_000426.4(LAMA2):c.32T>C (p.Leu11Pro) rs730880252
NM_000426.4(LAMA2):c.3329del (p.Leu1110fs) rs1583470073
NM_000426.4(LAMA2):c.3562_3563del (p.Leu1188fs) rs1583475938
NM_000426.4(LAMA2):c.3955C>T (p.Arg1319Ter) rs1180309541
NM_000426.4(LAMA2):c.4739dup (p.Leu1581fs) rs1392196900
NM_000426.4(LAMA2):c.4936G>T (p.Glu1646Ter) rs748541803
NM_000426.4(LAMA2):c.5290dup (p.Glu1764fs) rs1415944134
NM_000426.4(LAMA2):c.6196A>T (p.Lys2066Ter) rs1583756552
NM_000426.4(LAMA2):c.6551T>C (p.Phe2184Ser) rs398123381
NM_000426.4(LAMA2):c.8556_8558del (p.Ile2852del) rs398123389
NM_000426.4(LAMA2):c.8613dup (p.Ser2872fs) rs2114900655
NM_000426.4(LAMA2):c.8714_8715insGTGACG (p.Ser2905delinsArgTer) rs2114910650
NM_000430.4(PAFAH1B1):c.162del (p.Lys54fs) rs113994198
NM_000430.4(PAFAH1B1):c.162dup (p.Trp55fs) rs113994198
NM_000430.4(PAFAH1B1):c.568+2T>C rs2151664151
NM_000430.4(PAFAH1B1):c.569-10T>C rs113994202
NM_000431.4(MVK):c.689_690del (p.Leu230fs) rs1593026935
NM_000432.4(MYL2):c.163G>C (p.Ala55Pro) rs727504425
NM_000432.4(MYL2):c.3+2T>C rs111373423
NM_000435.3(NOTCH3):c.1187C>G (p.Ser396Cys) rs863225297
NM_000435.3(NOTCH3):c.164G>A (p.Cys55Tyr) rs1555730188
NM_000435.3(NOTCH3):c.1759C>T (p.Arg587Cys) rs754554486
NM_000435.3(NOTCH3):c.3043T>C (p.Cys1015Arg) rs1599382214
NM_000435.3(NOTCH3):c.328C>T (p.Arg110Cys) rs775836288
NM_000435.3(NOTCH3):c.3309G>A (p.Met1103Ile) rs1237713721
NM_000435.3(NOTCH3):c.4320C>G (p.Ser1440Arg) rs776057654
NM_000435.3(NOTCH3):c.457C>T (p.Arg153Cys) rs797045014
NM_000436.4(OXCT1):c.193G>A (p.Gly65Arg) rs1579903197
NM_000436.4(OXCT1):c.733-2A>G rs2112279505
NM_000439.5(PCSK1):c.958G>C (p.Asp320His) rs1580755294
NM_000440.3(PDE6A):c.1286G>A (p.Trp429Ter) rs1390479623
NM_000440.3(PDE6A):c.1287G>A (p.Trp429Ter) rs1581180469
NM_000440.3(PDE6A):c.1674C>G (p.Tyr558Ter) rs375659222
NM_000440.3(PDE6A):c.1838+1G>A rs2113558095
NM_000440.3(PDE6A):c.2064del (p.Lys689fs) rs1581164958
NM_000440.3(PDE6A):c.2377GAG[1] (p.Glu794del) rs767540194
NM_000441.2(SLC26A4):c.1439T>A (p.Val480Asp) rs1314376649
NM_000443.4(ABCB4):c.1119+5G>A rs1584750653
NM_000443.4(ABCB4):c.1210C>G (p.Pro404Ala) rs863225298
NM_000443.4(ABCB4):c.1322T>G (p.Leu441Arg) rs1584747270
NM_000443.4(ABCB4):c.1553del (p.Leu518fs) rs1562976061
NM_000443.4(ABCB4):c.2682+1G>A rs1012575668
NM_000443.4(ABCB4):c.344+4A>G rs1584768888
NM_000443.4(ABCB4):c.3659C>A (p.Ala1220Asp) rs2116296479
NM_000443.4(ABCB4):c.3724dup (p.Ile1242fs) rs1562945221
NM_000443.4(ABCB4):c.984T>G (p.Tyr328Ter) rs931093296
NM_000444.6(PHEX):c.101del (p.Gly34fs) rs1602241023
NM_000444.6(PHEX):c.1037A>G (p.Tyr346Cys) rs1556026033
NM_000444.6(PHEX):c.1042A>T (p.Lys348Ter) rs773436322
NM_000444.6(PHEX):c.1044del (p.Asp349fs) rs1556026042
NM_000444.6(PHEX):c.1046A>G (p.Asp349Gly) rs2147047501
NM_000444.6(PHEX):c.1102T>C (p.Trp368Arg) rs1602303865
NM_000444.6(PHEX):c.1157G>A (p.Trp386Ter) rs1602304005
NM_000444.6(PHEX):c.1173+1G>A rs1064793227
NM_000444.6(PHEX):c.1174-1G>A rs2147065556
NM_000444.6(PHEX):c.1208G>A (p.Trp403Ter) rs1602307078
NM_000444.6(PHEX):c.1215del (p.Lys405fs) rs1602307094
NM_000444.6(PHEX):c.1217G>A (p.Cys406Tyr) rs1602307107
NM_000444.6(PHEX):c.1266del (p.Phe422fs) rs2147065739
NM_000444.6(PHEX):c.1302+2T>A rs2147065825
NM_000444.6(PHEX):c.1309G>T (p.Glu437Ter) rs1341755128
NM_000444.6(PHEX):c.1324del (p.Val442fs) rs1602324484
NM_000444.6(PHEX):c.1331G>A (p.Trp444Ter) rs2147086395
NM_000444.6(PHEX):c.1402A>T (p.Lys468Ter) rs1602324630
NM_000444.6(PHEX):c.1404+1G>C rs2147086611
NM_000444.6(PHEX):c.1406C>A (p.Ala469Glu) rs375593493
NM_000444.6(PHEX):c.1425del (p.Val476fs) rs1602354302
NM_000444.6(PHEX):c.1482dup (p.Ile495fs) rs2147118855
NM_000444.6(PHEX):c.1496_1497insTCA (p.Glu499delinsAspGln) rs1602363343
NM_000444.6(PHEX):c.1515_1532del (p.Asn505_Arg510del) rs2147128134
NM_000444.6(PHEX):c.1586+2T>G rs1057518377
NM_000444.6(PHEX):c.1586+3_1586+6del rs886042234
NM_000444.6(PHEX):c.1586+5G>A rs1602363550
NM_000444.6(PHEX):c.1601C>T (p.Pro534Leu) rs886041363
NM_000444.6(PHEX):c.1646-2A>C rs2147164011
NM_000444.6(PHEX):c.1646-2A>G rs2147164011
NM_000444.6(PHEX):c.1646G>C (p.Arg549Pro) rs1602395717
NM_000444.6(PHEX):c.1706T>C (p.Leu569Pro) rs1556135242
NM_000444.6(PHEX):c.1714G>T (p.Gly572Cys) rs1064795106
NM_000444.6(PHEX):c.1718C>T (p.Ala573Val) rs1556135308
NM_000444.6(PHEX):c.1718del (p.Ala573fs) rs2147171155
NM_000444.6(PHEX):c.1741G>T (p.Glu581Ter) rs1602402229
NM_000444.6(PHEX):c.1750C>T (p.His584Tyr) rs1602402258
NM_000444.6(PHEX):c.1768+1G>A rs886041296
NM_000444.6(PHEX):c.1769-1G>A rs1602405079
NM_000444.6(PHEX):c.1769-1G>C rs1602405079
NM_000444.6(PHEX):c.1769-1G>T rs1602405079
NM_000444.6(PHEX):c.1775_1778dup (p.Tyr593Ter) rs1556138407
NM_000444.6(PHEX):c.1779T>A (p.Tyr593Ter) rs1935269189
NM_000444.6(PHEX):c.1809dup (p.Ser604fs) rs1602405176
NM_000444.6(PHEX):c.1825G>T (p.Glu609Ter) rs1602405239
NM_000444.6(PHEX):c.1840A>T (p.Lys614Ter) rs2147174526
NM_000444.6(PHEX):c.1854_1857dup (p.Asn620delinsAspTer) rs886041367
NM_000444.6(PHEX):c.1859_1862dup (p.Tyr622fs) rs2147174569
NM_000444.6(PHEX):c.185dup (p.Ala63fs) rs1602244836
NM_000444.6(PHEX):c.1862A>C (p.Gln621Pro) rs1602405293
NM_000444.6(PHEX):c.187+1G>C rs1556012100
NM_000444.6(PHEX):c.188-1G>C rs1927567325
NM_000444.6(PHEX):c.1899+1G>A rs1556138769
NM_000444.6(PHEX):c.1899+2T>G rs1602405375
NM_000444.6(PHEX):c.1951_1962dup (p.Glu652_Arg655dup) rs1602411514
NM_000444.6(PHEX):c.1986_1989dup (p.Arg664Ter) rs1556151137
NM_000444.6(PHEX):c.2005_2016del (p.Glu669_Leu672del) rs1602412679
NM_000444.6(PHEX):c.200T>A (p.Leu67Ter) rs2146987638
NM_000444.6(PHEX):c.2060_2063dup (p.Tyr688Ter) rs886041372
NM_000444.6(PHEX):c.2071-1G>C rs886041374
NM_000444.6(PHEX):c.2078G>C (p.Cys693Ser) rs1556200989
NM_000444.6(PHEX):c.2079C>G (p.Cys693Trp) rs1064796845
NM_000444.6(PHEX):c.2092_2096del (p.Pro698fs) rs2147213985
NM_000444.6(PHEX):c.20_21del (p.Ser7fs) rs1602240926
NM_000444.6(PHEX):c.2125del (p.Ala709fs) rs1602439597
NM_000444.6(PHEX):c.2132G>T (p.Ser711Ile) rs2147214114
NM_000444.6(PHEX):c.2133T>G (p.Ser711Arg) rs1602439611
NM_000444.6(PHEX):c.2139del (p.Gln714fs) rs2147214136
NM_000444.6(PHEX):c.2147+2T>G rs1602439662
NM_000444.6(PHEX):c.2198G>T (p.Cys733Phe) rs1057517981
NM_000444.6(PHEX):c.2236T>C (p.Cys746Arg) rs1602442819
NM_000444.6(PHEX):c.2249A>G (p.Ter750Trp) rs1602442871
NM_000444.6(PHEX):c.254G>C (p.Cys85Ser) rs137853269
NM_000444.6(PHEX):c.254G>T (p.Cys85Phe) rs137853269
NM_000444.6(PHEX):c.305G>T (p.Gly102Val) rs2146987874
NM_000444.6(PHEX):c.332_334del (p.Val111del) rs1064795949
NM_000444.6(PHEX):c.349+1G>A rs193922459
NM_000444.6(PHEX):c.367_370del (p.Ile123fs) rs1602273769
NM_000444.6(PHEX):c.37_38del (p.Lys13fs) rs2146974254
NM_000444.6(PHEX):c.3G>A (p.Met1Ile) rs1926865530
NM_000444.6(PHEX):c.421T>C (p.Ser141Pro) rs2147019252
NM_000444.6(PHEX):c.422C>T (p.Ser141Phe) rs1602273900
NM_000444.6(PHEX):c.436+4A>T rs1057520344
NM_000444.6(PHEX):c.436+5G>T rs1602273945
NM_000444.6(PHEX):c.460A>T (p.Lys154Ter) rs1929202828
NM_000444.6(PHEX):c.468del (p.Leu157fs) rs2147020412
NM_000444.6(PHEX):c.535del (p.Val179fs) rs2147020604
NM_000444.6(PHEX):c.540G>A (p.Trp180Ter) rs1602274883
NM_000444.6(PHEX):c.559del (p.Leu187fs) rs1602274893
NM_000444.6(PHEX):c.582del (p.Arg195fs) rs1602274929
NM_000444.6(PHEX):c.591A>G (p.Gln197=) rs1556020818
NM_000444.6(PHEX):c.593del (p.Tyr198fs) rs1602274950
NM_000444.6(PHEX):c.621T>G (p.Tyr207Ter) rs771208171
NM_000444.6(PHEX):c.663G>A (p.Lys221=) rs1929220357
NM_000444.6(PHEX):c.664-1G>T rs886041529
NM_000444.6(PHEX):c.673del (p.Ala225fs) rs2147035468
NM_000444.6(PHEX):c.705C>A (p.Tyr235Ter) rs2147035526
NM_000444.6(PHEX):c.732+3_732+6del rs2147035589
NM_000444.6(PHEX):c.733-1G>C rs886041223
NM_000444.6(PHEX):c.7_8dup (p.Glu4fs) rs1602240890
NM_000444.6(PHEX):c.849_849+2del rs1602288211
NM_000444.6(PHEX):c.865G>T (p.Glu289Ter) rs1602290398
NM_000444.6(PHEX):c.933+2T>A rs2147043777
NM_000444.6(PHEX):c.934-1G>T rs1602292528
NM_000444.6(PHEX):c.955AAG[1] (p.Lys320del) rs1556025968
NM_000444.6(PHEX):c.961G>T (p.Val321Phe) rs1556025976
NM_000444.6(PHEX):c.985del (p.His329fs) rs1556025994
NM_000447.3(PSEN2):c.140G>A (p.Trp47Ter) rs1412682521
NM_000448.3(RAG1):c.2332C>T (p.Arg778Trp) rs752020152
NM_000448.3(RAG1):c.360_367del (p.Asp121fs) rs1590701881
NM_000451.4(SHOX):c.-19G>A rs201157428
NM_000451.4(SHOX):c.334C>T (p.Gln112Ter) rs1425206026
NM_000451.4(SHOX):c.397G>A (p.Glu133Lys) rs767349016
NM_000451.4(SHOX):c.463G>C (p.Gly155Arg) rs765251991
NM_000451.4(SHOX):c.479G>C (p.Arg160Pro) rs1159449478
NM_000451.4(SHOX):c.518G>A (p.Arg173His) rs746801054
NM_000451.4(SHOX):c.616C>T (p.Arg206Trp) rs773859404
NM_000451.4(SHOX):c.66AGGCGG[3] (p.Gly27_Gly28dup) rs747349135
NM_000451.4(SHOX):c.670G>A (p.Ala224Thr) rs2052925859
NM_000451.4(SHOX):c.673CACCCGCACCTG[1] (p.225HPHL[1]) rs752208304
NM_000451.4(SHOX):c.673CACCCGCACCTG[3] (p.225HPHL[3]) rs752208304
NM_000451.4(SHOX):c.728del (p.Pro243fs) rs757845999
NM_000451.4(SHOX):c.728dup (p.Pro244fs) rs757845999
NM_000451.4(SHOX):c.805del (p.Ser269fs) rs1569495224
NM_000454.5(SOD1):c.413C>T (p.Thr138Ile) rs1568811454
NM_000454.5(SOD1):c.449T>A (p.Ile150Asn) rs1424014997
NM_000455.5(STK11):c.*16+6G>A rs2145436787
NM_000455.5(STK11):c.*16+8_*16+17dup rs1453954065
NM_000455.5(STK11):c.*17-6C>G rs866505758
NM_000455.5(STK11):c.-107dup rs927999961
NM_000455.5(STK11):c.-280C>A rs893914050
NM_000455.5(STK11):c.-551C>T rs1316450313
NM_000455.5(STK11):c.-95G>T rs1323638467
NM_000455.5(STK11):c.-99C>T rs1407068597
NM_000455.5(STK11):c.1055A>T (p.Asp352Val) rs2145431252
NM_000455.5(STK11):c.1087A>G (p.Thr363Ala) rs764458789
NM_000455.5(STK11):c.1108G>C (p.Gly370Arg) rs747655835
NM_000455.5(STK11):c.1128G>T (p.Glu376Asp) rs747018506
NM_000455.5(STK11):c.1178A>G (p.Asn393Ser) rs1060499965
NM_000455.5(STK11):c.1180G>A (p.Gly394Ser) rs768780695
NM_000455.5(STK11):c.1225C>T (p.Arg409Trp) rs368466538
NM_000455.5(STK11):c.188T>C (p.Val63Ala) rs1568690276
NM_000455.5(STK11):c.217T>C (p.Cys73Arg) rs1568690354
NM_000455.5(STK11):c.375-13C>T rs1568705244
NM_000455.5(STK11):c.458C>A (p.Ala153Asp) rs1555737824
NM_000455.5(STK11):c.465-4G>A rs587780009
NM_000455.5(STK11):c.617C>T (p.Ala206Val) rs764244639
NM_000455.5(STK11):c.784A>T (p.Lys262Ter) rs2145426930
NM_000455.5(STK11):c.82dup (p.Arg28fs) rs1568689930
NM_000455.5(STK11):c.843dup (p.Leu282fs) rs1131690949
NM_000455.5(STK11):c.863-5C>T rs1599928248
NM_000455.5(STK11):c.920+1G>A rs1131690920
NM_000455.5(STK11):c.970C>T (p.Pro324Ser) rs549474196
NM_000458.4(HNF1B):c.1441C>G (p.Pro481Ala) rs2147446997
NM_000458.4(HNF1B):c.254A>G (p.Asp85Gly) rs984116301
NM_000459.5(TEK):c.2228G>C (p.Gly743Ala) rs202131936
NM_000463.3(UGT1A1):c.1304+1G>T rs2126038220
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.-107G>T rs1574870750
NM_000465.4(BARD1):c.1002G>T (p.Lys334Asn) rs1574818027
NM_000465.4(BARD1):c.1045A>C (p.Lys349Gln) rs1401955290
NM_000465.4(BARD1):c.1075_1095del (p.Leu359_Pro365del) rs28997575
NM_000465.4(BARD1):c.1136A>C (p.Lys379Thr) rs750827325
NM_000465.4(BARD1):c.1288A>G (p.Thr430Ala) rs1574815970
NM_000465.4(BARD1):c.1297C>T (p.His433Tyr) rs1574815914
NM_000465.4(BARD1):c.1314+5G>A rs868089048
NM_000465.4(BARD1):c.1335A>C (p.Glu445Asp) rs1574792945
NM_000465.4(BARD1):c.1349dup (p.Asn450fs) rs876660390
NM_000465.4(BARD1):c.1376A>G (p.His459Arg) rs587781621
NM_000465.4(BARD1):c.1564G>T (p.Ala522Ser) rs730881419
NM_000465.4(BARD1):c.1610A>G (p.Glu537Gly) rs1553616390
NM_000465.4(BARD1):c.1662T>C (p.Ala554=) rs1402521170
NM_000465.4(BARD1):c.1754T>C (p.Leu585Pro) rs786201905
NM_000465.4(BARD1):c.1758del (p.Ser586fs) rs1559387024
NM_000465.4(BARD1):c.176_177del (p.Glu59fs) rs1057517589
NM_000465.4(BARD1):c.1788del (p.Lys596fs) rs1574739005
NM_000465.4(BARD1):c.1816C>T (p.His606Tyr) rs1559386300
NM_000465.4(BARD1):c.1886G>T (p.Trp629Leu) rs747446711
NM_000465.4(BARD1):c.1904-626G>T rs1172986637
NM_000465.4(BARD1):c.1906G>A (p.Val636Ile) rs1553612541
NM_000465.4(BARD1):c.1955A>G (p.Glu652Gly) rs876658395
NM_000465.4(BARD1):c.2125C>T (p.Pro709Ser) rs1040231633
NM_000465.4(BARD1):c.216-12A>T rs199846428
NM_000465.4(BARD1):c.216-13_216-12del rs1491038786
NM_000465.4(BARD1):c.2165A>G (p.Tyr722Cys) rs2105987106
NM_000465.4(BARD1):c.2191C>G (p.Arg731Gly) rs76744638
NM_000465.4(BARD1):c.2192G>A (p.Arg731His) rs587782248
NM_000465.4(BARD1):c.2206T>C (p.Tyr736His) rs1559371905
NM_000465.4(BARD1):c.2216A>G (p.Tyr739Cys) rs777013688
NM_000465.4(BARD1):c.491A>C (p.Gln164Pro) rs980413835
NM_000465.4(BARD1):c.53A>T (p.Asn18Ile) rs1064793727
NM_000465.4(BARD1):c.565G>A (p.Ala189Thr) rs786202110
NM_000465.4(BARD1):c.675A>T (p.Glu225Asp) rs1559425348
NM_000465.4(BARD1):c.69_70insAACGAGCCTCGTTCCG (p.Pro24fs) rs2106171546
NM_000465.4(BARD1):c.752G>A (p.Ser251Asn) rs1553622477
NM_000465.4(BARD1):c.769G>A (p.Glu257Lys) rs587782673
NM_000465.4(BARD1):c.7G>T (p.Asp3Tyr) rs1060501282
NM_000465.4(BARD1):c.994A>T (p.Ile332Phe) rs543606863
NM_000474.4(TWIST1):c.193G>T (p.Glu65Ter) rs1449444508
NM_000474.4(TWIST1):c.309C>G (p.Tyr103Ter) rs104894054
NM_000474.4(TWIST1):c.365A>G (p.Gln122Arg) rs2115396737
NM_000481.4(AMT):c.311G>A (p.Gly104Glu) rs753221440
NM_000481.4(AMT):c.478del (p.Val160fs) rs1575305901
NM_000481.4(AMT):c.908del (p.Pro303fs) rs1575303218
NM_000484.4(APP):c.2140A>G (p.Thr714Ala) rs63750643
NM_000487.6(ARSA):c.1228dup (p.Thr410fs) rs2146716994
NM_000487.6(ARSA):c.13del (p.Ala5fs) rs919125796
NM_000487.6(ARSA):c.755C>A (p.Ser252Tyr) rs199476367
NM_000489.6(ATRX):c.4253G>C (p.Ser1418Thr) rs2148451092
NM_000489.6(ATRX):c.5124G>T (p.Leu1708Phe) rs1602978896
NM_000489.6(ATRX):c.5405A>C (p.Lys1802Thr) rs1602876401
NM_000489.6(ATRX):c.6104A>G (p.Asp2035Gly) rs122445096
NM_000489.6(ATRX):c.729C>G (p.Cys243Trp) rs1057524153
NM_000492.3(CFTR):c.(1)_(4374+1_4375-1)del
NM_000492.3(CFTR):c.(1341+1_1342-1)_(1716+1_1717-1)del
NM_000492.3(CFTR):c.(1341+1_1342-1)_(4095+1_4096-1)dup
NM_000492.3(CFTR):c.(3120+1_3121-1)_(3499+1_3500-1)del
NM_000492.3(CFTR):c.(3468+1_3469-1)_(3963+1_3964-1)del
NM_000492.3(CFTR):c.(3499+1_3500-1)_(6132)del
NM_000492.3(CFTR):c.(405+1_406-1)_(6132)del
NM_000492.3(CFTR):c.1210-12T[5] rs1805177
NM_000492.3(CFTR):c.1210-12T[9] rs1805177
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del) rs113993960
NM_000492.3(CFTR):c.2175dup (p.Glu726Argfs) rs746418935
NM_000492.3(CFTR):c.2989_3139del151 rs1562914028
NM_000492.3(CFTR):c.3468+2dup rs1554392800
NM_000492.3(CFTR):c.54-5940_273+10250del
NM_000492.3(CFTR):c.54_164del111 rs1562882675
NM_000492.4(CFTR):c.-9_14del (p.Met1fs) rs397508136
NM_000492.4(CFTR):c.1007T>A (p.Ile336Lys) rs397508139
NM_000492.4(CFTR):c.100_117del (p.Leu34_Gln39del) rs397508141
NM_000492.4(CFTR):c.1040G>C (p.Arg347Pro) rs77932196
NM_000492.4(CFTR):c.1045G>C (p.Ala349Pro) rs1562892293
NM_000492.4(CFTR):c.1052C>G (p.Thr351Ser) rs1800086
NM_000492.4(CFTR):c.1066_1071del (p.Trp356_Ala357del) rs2116684480
NM_000492.4(CFTR):c.1075C>A (p.Gln359Lys) rs76879328
NM_000492.4(CFTR):c.1084_1088dup (p.Ser364fs) rs1562892359
NM_000492.4(CFTR):c.1115del (p.Gln372fs) rs1562892387
NM_000492.4(CFTR):c.1116+1G>A rs397508158
NM_000492.4(CFTR):c.1116+1G>T rs397508158
NM_000492.4(CFTR):c.1126C>T (p.Gln376Ter) rs1562892823
NM_000492.4(CFTR):c.1135G>A (p.Glu379Lys) rs397508165
NM_000492.4(CFTR):c.1197del (p.Phe400fs) rs1562892895
NM_000492.4(CFTR):c.11C>A (p.Ser4Ter) rs397508173
NM_000492.4(CFTR):c.1209+1G>T rs397508176
NM_000492.4(CFTR):c.1211_1392+1del rs1562894928
NM_000492.4(CFTR):c.1211del rs1235397597
NM_000492.4(CFTR):c.1227_1228del (p.Phe409fs) rs2115902766
NM_000492.4(CFTR):c.1234_1238del (p.Ala412fs) rs3034796
NM_000492.4(CFTR):c.1279A>C (p.Ser427Arg) rs1584793492
NM_000492.4(CFTR):c.1301C>A (p.Ser434Ter) rs367934560
NM_000492.4(CFTR):c.1301C>G (p.Ser434Ter) rs367934560
NM_000492.4(CFTR):c.1317T>G (p.Pro439=) rs1562895052
NM_000492.4(CFTR):c.1343_1350del (p.Ile448fs) rs2115903582
NM_000492.4(CFTR):c.1364C>A (p.Ala455Glu) rs74551128
NM_000492.4(CFTR):c.1365_1366del (p.Val456fs) rs797045161
NM_000492.4(CFTR):c.1409_1418del (p.Val470fs) rs397508204
NM_000492.4(CFTR):c.147_150del (p.Ser50fs) rs1562882755
NM_000492.4(CFTR):c.1486del (p.Trp496fs) rs1584798316
NM_000492.4(CFTR):c.1505T>G (p.Ile502Ser) rs397508222
NM_000492.4(CFTR):c.1510G>T (p.Glu504Ter) rs397508223
NM_000492.4(CFTR):c.1516ATC[1] (p.Ile507del) rs121908745
NM_000492.4(CFTR):c.1525G>C (p.Gly509Arg) rs1562898465
NM_000492.4(CFTR):c.1530_1531del (p.Ser511fs) rs1562898471
NM_000492.4(CFTR):c.1546_1548delinsT (p.Arg516fs) rs1562898489
NM_000492.4(CFTR):c.1547_1548del (p.Arg516fs) rs1562898489
NM_000492.4(CFTR):c.1550A>G (p.Tyr517Cys) rs1562898496
NM_000492.4(CFTR):c.1558G>A (p.Val520Ile) rs77646904
NM_000492.4(CFTR):c.1559T>A (p.Val520Asp) rs1562898510
NM_000492.4(CFTR):c.1585-8G>A rs193922503
NM_000492.4(CFTR):c.1586_1679+1del rs1562906265
NM_000492.4(CFTR):c.164+2dup rs1554375870
NM_000492.4(CFTR):c.1645A>C (p.Ser549Arg) rs121908757
NM_000492.4(CFTR):c.1647T>A (p.Ser549Arg) rs121909005
NM_000492.4(CFTR):c.1651G>A (p.Gly551Ser) rs121909013
NM_000492.4(CFTR):c.1654C>A (p.Gln552Lys) rs76554633
NM_000492.4(CFTR):c.1654C>T (p.Gln552Ter) rs76554633
NM_000492.4(CFTR):c.1656del (p.Gln552fs) rs397508253
NM_000492.4(CFTR):c.166G>T (p.Glu56Ter) rs397508256
NM_000492.4(CFTR):c.1679+1G>A rs397508263
NM_000492.4(CFTR):c.1682C>T (p.Ala561Val) rs121909047
NM_000492.4(CFTR):c.1684G>A (p.Val562Ile) rs1800097
NM_000492.4(CFTR):c.1687T>C (p.Tyr563His) rs121909006
NM_000492.4(CFTR):c.169T>G (p.Trp57Gly) rs397508272
NM_000492.4(CFTR):c.1706A>G (p.Tyr569Cys) rs397508277
NM_000492.4(CFTR):c.1736A>G (p.Asp579Gly) rs397508288
NM_000492.4(CFTR):c.1760T>C (p.Phe587Ser) rs1562907260
NM_000492.4(CFTR):c.1766+3A>C rs397508298
NM_000492.4(CFTR):c.1936G>T (p.Gly646Ter) rs1562907873
NM_000492.4(CFTR):c.2012del (p.Ser670_Leu671insTer) rs121908812
NM_000492.4(CFTR):c.2051_2052dup (p.Gln685fs) rs121908746
NM_000492.4(CFTR):c.2052del (p.Lys684fs) rs121908746
NM_000492.4(CFTR):c.2052dup (p.Gln685fs) rs121908746
NM_000492.4(CFTR):c.2089del (p.Arg697fs) rs397508341
NM_000492.4(CFTR):c.2143C>T (p.Gln715Ter) rs397508343
NM_000492.4(CFTR):c.2195T>G (p.Leu732Ter) rs397508350
NM_000492.4(CFTR):c.2215del (p.Val739fs) rs397508353
NM_000492.4(CFTR):c.2278dup (p.Thr760fs) rs2116032755
NM_000492.4(CFTR):c.2374C>T (p.Arg792Ter) rs145449046
NM_000492.4(CFTR):c.243del (p.Phe81fs) rs1562884046
NM_000492.4(CFTR):c.2476G>T (p.Glu826Ter) rs397508381
NM_000492.4(CFTR):c.2492_2619+1del rs1562908889
NM_000492.4(CFTR):c.254G>T (p.Gly85Val) rs75961395
NM_000492.4(CFTR):c.2551C>T (p.Arg851Ter) rs121909012
NM_000492.4(CFTR):c.2552G>T (p.Arg851Leu) rs397508395
NM_000492.4(CFTR):c.2583del (p.Phe861fs) rs397508399
NM_000492.4(CFTR):c.262_263del (p.Leu88fs) rs121908769
NM_000492.4(CFTR):c.2658-2A>G rs1554390958
NM_000492.4(CFTR):c.2706C>G (p.Ser902Arg) rs397508422
NM_000492.4(CFTR):c.2735C>A (p.Ser912Ter) rs121909034
NM_000492.4(CFTR):c.2737_2738insG (p.Tyr913Ter) rs121908788
NM_000492.4(CFTR):c.274-2A>C rs397508426
NM_000492.4(CFTR):c.274G>T (p.Glu92Ter) rs121908751
NM_000492.4(CFTR):c.275_489+1del rs1562889180
NM_000492.4(CFTR):c.275_579+1del
NM_000492.4(CFTR):c.2812dup (p.Val938fs) rs1562911661
NM_000492.4(CFTR):c.2859_2890del (p.Leu953fs) rs397508445
NM_000492.4(CFTR):c.2879_2882del (p.Pro960fs) rs1562911739
NM_000492.4(CFTR):c.2908G>A (p.Gly970Ser) rs397508453
NM_000492.4(CFTR):c.2911_3367+2del
NM_000492.4(CFTR):c.2918T>C (p.Leu973Pro) rs397508460
NM_000492.4(CFTR):c.2988+2T>G rs1792307406
NM_000492.4(CFTR):c.2989-1G>A rs397508470
NM_000492.4(CFTR):c.2989-3C>G rs397508471
NM_000492.4(CFTR):c.2997_3000del (p.Leu999_Ile1000insTer) rs397508472
NM_000492.4(CFTR):c.2T>G (p.Met1Arg) rs397508476
NM_000492.4(CFTR):c.3001G>A (p.Val1001Met) rs193922731
NM_000492.4(CFTR):c.3002_3003del (p.Val1001fs) rs397508477
NM_000492.4(CFTR):c.3011del (p.Ala1004fs) rs1562914082
NM_000492.4(CFTR):c.3032T>G (p.Leu1011Ter) rs1562914107
NM_000492.4(CFTR):c.3039del (p.Tyr1014fs) rs121908781
NM_000492.4(CFTR):c.3067_3072del (p.Ile1023_Val1024del) rs121908767
NM_000492.4(CFTR):c.3107C>T (p.Thr1036Ile) rs397508498
NM_000492.4(CFTR):c.3110C>A (p.Ser1037Ter) rs1562914200
NM_000492.4(CFTR):c.3114_3116dup (p.Gln1039dup) rs1469768894
NM_000492.4(CFTR):c.3118C>T (p.Leu1040Phe) rs1562914212
NM_000492.4(CFTR):c.3122A>G (p.Lys1041Arg) rs1562914220
NM_000492.4(CFTR):c.3134C>T (p.Ser1045Phe) rs1584821736
NM_000492.4(CFTR):c.3139G>T (p.Gly1047Cys) rs397508504
NM_000492.4(CFTR):c.3141_3468+1del
NM_000492.4(CFTR):c.3160C>G (p.His1054Asp) rs397508510
NM_000492.4(CFTR):c.3188G>A (p.Trp1063Ter) rs1562914641
NM_000492.4(CFTR):c.319G>C (p.Ala107Pro) rs1562889219
NM_000492.4(CFTR):c.3231_3232del (p.Phe1078fs) rs779177972
NM_000492.4(CFTR):c.3257C>T (p.Thr1086Ile) rs77958296
NM_000492.4(CFTR):c.326A>G (p.Tyr109Cys) rs121909031
NM_000492.4(CFTR):c.328G>C (p.Asp110His) rs113993958
NM_000492.4(CFTR):c.3294G>T (p.Trp1098Cys) rs397508533
NM_000492.4(CFTR):c.3299A>C (p.Gln1100Pro) rs397508535
NM_000492.4(CFTR):c.3301del (p.Gln1100_Met1101insTer) rs2116085156
NM_000492.4(CFTR):c.3328TTC[1] (p.Phe1111del) rs1562914829
NM_000492.4(CFTR):c.3343dup (p.Thr1115fs) rs1562914838
NM_000492.4(CFTR):c.3367+1G>A rs1470125842
NM_000492.4(CFTR):c.3367+2T>A rs397508544
NM_000492.4(CFTR):c.3368-2A>G rs755416052
NM_000492.4(CFTR):c.3410T>G (p.Met1137Arg) rs397508555
NM_000492.4(CFTR):c.3421_3424dup (p.Thr1142fs) rs397508559
NM_000492.4(CFTR):c.3486_3487del (p.Val1163fs) rs397508575
NM_000492.4(CFTR):c.349C>T (p.Arg117Cys) rs77834169
NM_000492.4(CFTR):c.350G>A (p.Arg117His) rs78655421
NM_000492.4(CFTR):c.3528del (p.Lys1177fs) rs78984783
NM_000492.4(CFTR):c.3532_3535dup (p.Thr1179fs) rs387906378
NM_000492.4(CFTR):c.3569_3570del (p.Val1190fs) rs1562919371
NM_000492.4(CFTR):c.3639dup (p.Asp1214fs) rs2116129829
NM_000492.4(CFTR):c.3700A>G (p.Ile1234Val) rs75389940
NM_000492.4(CFTR):c.3728T>A (p.Leu1243Ter) rs1562923164
NM_000492.4(CFTR):c.3739G>A (p.Gly1247Arg) rs397508601
NM_000492.4(CFTR):c.3745G>C (p.Gly1249Arg) rs397508602
NM_000492.4(CFTR):c.3747del (p.Lys1250fs) rs797045159
NM_000492.4(CFTR):c.3763T>C (p.Ser1255Pro) rs121909041
NM_000492.4(CFTR):c.3764C>A (p.Ser1255Ter) rs76649725
NM_000492.4(CFTR):c.3794G>T (p.Gly1265Val) rs1554395370
NM_000492.4(CFTR):c.3841C>T (p.Gln1281Ter) rs397508615
NM_000492.4(CFTR):c.3844T>G (p.Trp1282Gly) rs397508616
NM_000492.4(CFTR):c.3873+1G>A rs143570767
NM_000492.4(CFTR):c.3874-1G>A rs397508624
NM_000492.4(CFTR):c.3874-8T>A rs397508625
NM_000492.4(CFTR):c.3889dup (p.Ser1297fs) rs121908808
NM_000492.4(CFTR):c.3896C>T (p.Thr1299Ile) rs397508634
NM_000492.4(CFTR):c.38C>T (p.Ser13Phe) rs397508635
NM_000492.4(CFTR):c.3907A>T (p.Asn1303Tyr) rs121909042
NM_000492.4(CFTR):c.3925C>T (p.Gln1309Ter) rs193922732
NM_000492.4(CFTR):c.3966_4242+2del rs1562928854
NM_000492.4(CFTR):c.3999del (p.Lys1334fs) rs886042527
NM_000492.4(CFTR):c.3G>A (p.Met1Ile) rs397508657
NM_000492.4(CFTR):c.4028del (p.Gly1343fs) rs397508661
NM_000492.4(CFTR):c.4046G>A (p.Gly1349Asp) rs193922525
NM_000492.4(CFTR):c.4056G>C (p.Gln1352His) rs113857788
NM_000492.4(CFTR):c.4061T>G (p.Met1354Arg) rs755993775
NM_000492.4(CFTR):c.409_412del (p.Leu137fs) rs397508671
NM_000492.4(CFTR):c.409del (p.Leu137fs) rs397508672
NM_000492.4(CFTR):c.4124A>C (p.His1375Pro) rs397508678
NM_000492.4(CFTR):c.4136+1G>A rs1562928997
NM_000492.4(CFTR):c.4225G>T (p.Glu1409Ter) rs397508699
NM_000492.4(CFTR):c.4242+5G>A rs1562929196
NM_000492.4(CFTR):c.4251del (p.Glu1418fs) rs397508706
NM_000492.4(CFTR):c.4277C>A (p.Ser1426Tyr) rs762847468
NM_000492.4(CFTR):c.4300_4301dup (p.Ser1435fs) rs397508709
NM_000492.4(CFTR):c.433del (p.Leu145fs) rs1562889382
NM_000492.4(CFTR):c.4389del (p.Ile1464fs) rs1584850283
NM_000492.4(CFTR):c.4400_*34del (p.Leu1467_Ter1481delinsXaa) rs1562929636
NM_000492.4(CFTR):c.4400del (p.Leu1467fs) rs1562929633
NM_000492.4(CFTR):c.443T>A (p.Ile148Asn) rs35516286
NM_000492.4(CFTR):c.449T>G (p.Met150Arg) rs1562889397
NM_000492.4(CFTR):c.473G>A (p.Ser158Asn) rs397508725
NM_000492.4(CFTR):c.484A>G (p.Lys162Glu) rs397508731
NM_000492.4(CFTR):c.488A>C (p.Lys163Thr) rs1562889435
NM_000492.4(CFTR):c.488del (p.Lys163fs) rs1554379899
NM_000492.4(CFTR):c.490-1G>T rs397508734
NM_000492.4(CFTR):c.4C>T (p.Gln2Ter) rs397508740
NM_000492.4(CFTR):c.4del (p.Gln2fs) rs1562876396
NM_000492.4(CFTR):c.503C>T (p.Ser168Leu) rs869249241
NM_000492.4(CFTR):c.51del (p.Phe17fs) rs1317756653
NM_000492.4(CFTR):c.53+1G>T rs397508746
NM_000492.4(CFTR):c.532G>C (p.Gly178Arg) rs80282562
NM_000492.4(CFTR):c.560del (p.Asn187fs) rs1562890223
NM_000492.4(CFTR):c.577G>A (p.Glu193Lys) rs397508759
NM_000492.4(CFTR):c.580-1G>T rs121908793
NM_000492.4(CFTR):c.580-2A>C rs193922730
NM_000492.4(CFTR):c.658C>T (p.Gln220Ter) rs397508778
NM_000492.4(CFTR):c.675T>A (p.Cys225Ter) rs397508781
NM_000492.4(CFTR):c.676G>C (p.Gly226Arg) rs1562890588
NM_000492.4(CFTR):c.701C>A (p.Ala234Asp) rs769016520
NM_000492.4(CFTR):c.743+1G>A rs397508791
NM_000492.4(CFTR):c.861_865del (p.Asn287fs) rs397508805
NM_000492.4(CFTR):c.863T>G (p.Leu288Ter) rs1584787782
NM_000492.4(CFTR):c.866_870del (p.Arg289fs) rs1562891084
NM_000492.4(CFTR):c.869+1G>T rs1330431481
NM_000492.4(CFTR):c.948del (p.Phe316fs) rs75528968
NM_000492.4(CFTR):c.950T>A (p.Val317Glu) rs1204521684
NM_000493.4(COL10A1):c.*6_*7insCCC rs140722
NM_000493.4(COL10A1):c.1772G>A (p.Cys591Tyr) rs2114278741
NM_000493.4(COL10A1):c.1948_1953del (p.Val650_Trp651del) rs1582811858
NM_000493.4(COL10A1):c.757G>A (p.Gly253Ser) rs1779117883
NM_000494.4(COL17A1):c.2002+2T>G rs1274167395
NM_000500.9(CYP21A2):c.1174G>A (p.Ala392Thr) rs202242769
NM_000500.9(CYP21A2):c.1439G>T (p.Arg480Leu) rs184649564
NM_000500.9(CYP21A2):c.293-13C>G rs6467
NM_000500.9(CYP21A2):c.844G>T (p.Val282Leu) rs6471
NM_000500.9(CYP21A2):c.923del (p.Leu308fs) rs267606756
NM_000501.4(ELN):c.1489_1506del (p.Leu497_Gly502del) rs782393234
NM_000501.4(ELN):c.2161del (p.Arg721fs) rs794729201
NM_000507.4(FBP1):c.611_614del (p.Lys204fs) rs761470205
NM_000507.4(FBP1):c.986T>C (p.Leu329Pro) rs1248299502
NM_000508.5(FGA):c.2113G>T (p.Gly705Ter) rs1404896169
NM_000508.5(FGA):c.2587del (p.Leu863_Val864insTer) rs773678959
NM_000512.5(GALNS):c.121-3C>T rs1211862895
NM_000512.5(GALNS):c.1243-2A>C rs2142992422
NM_000512.5(GALNS):c.1493C>T (p.Pro498Leu) rs1597515555
NM_000512.5(GALNS):c.281G>T (p.Arg94Leu) rs727503946
NM_000512.5(GALNS):c.426T>A (p.His142Gln) rs754616917
NM_000512.5(GALNS):c.47T>A (p.Val16Glu) rs794729202
NM_000512.5(GALNS):c.491A>C (p.Asn164Thr) rs761725425
NM_000512.5(GALNS):c.611A>G (p.Asn204Ser) rs569725936
NM_000515.5(GH1):c.291+1G>A rs71640277
NM_000516.7(GNAS):c.596G>C (p.Arg199Pro) rs1267396058
NM_000516.7(GNAS):c.602dup (p.Val202fs) rs2146270735
NM_000518.4(HBB):c.157G>A (p.Asp53Asn) rs33961886
NM_000518.4(HBB):c.364G>C (p.Glu122Gln) rs33946267
NM_000518.5(HBB):c.190C>T (p.His64Tyr) rs33922873
NM_000518.5(HBB):c.93-2A>G rs63750513
NM_000520.6(HEXA):c.539A>C (p.Tyr180Ser) rs200513831
NM_000520.6(HEXA):c.611A>G (p.His204Arg) rs121907976
NM_000520.6(HEXA):c.736G>A (p.Ala246Thr) rs758166013
NM_000522.5(HOXA13):c.381CGC[5] (p.Ala133del) rs955237055
NM_000524.4(HTR1A):c.-480del rs367956927
NM_000525.4(KCNJ11):c.28G>C (p.Glu10Gln) rs587783667
NM_000526.5(KRT14):c.355A>G (p.Met119Val) rs61263401
NM_000526.5(KRT14):c.356T>G (p.Met119Arg) rs28928893
NM_000526.5(KRT14):c.372C>A (p.Asp124Glu) rs752374133
NM_000527.5(LDLR):c.106G>T (p.Asp36Tyr) rs2147210262
NM_000527.5(LDLR):c.1702C>G (p.Leu568Val) rs746959386
NM_000527.5(LDLR):c.1790C>A (p.Thr597Asn) rs1184797111
NM_000527.5(LDLR):c.1801G>C (p.Asp601His)
NM_000527.5(LDLR):c.1876G>A (p.Glu626Lys)
NM_000527.5(LDLR):c.1982C>T (p.Pro661Leu)
NM_000527.5(LDLR):c.2311G>A (p.Ala771Thr)
NM_000527.5(LDLR):c.2441G>A (p.Arg814Gln)
NM_000527.5(LDLR):c.2560A>G (p.Ser854Gly)
NM_000527.5(LDLR):c.52G>C (p.Ala18Pro) rs1172805138
NM_000527.5(LDLR):c.621C>A (p.Gly207=) rs121908044
NM_000527.5(LDLR):c.644G>T (p.Arg215Leu) rs753319170
NM_000527.5(LDLR):c.695-3C>T rs745897889
NM_000527.5(LDLR):c.806G>A (p.Gly269Asp)
NM_000527.5(LDLR):c.828C>A (p.Cys276Ter) rs146651743
NM_000527.5(LDLR):c.829G>A (p.Glu277Lys)
NM_000527.5(LDLR):c.932_933del (p.Lys311fs) rs879254723
NM_000527.5(LDLR):c.940+4A>T rs768247312
NM_000527.5(LDLR):c.970G>A (p.Gly324Ser)
NM_000530.8(MPZ):c.101C>T (p.Thr34Ile) rs1571820317
NM_000530.8(MPZ):c.194C>A (p.Thr65Asn) rs1571819964
NM_000530.8(MPZ):c.277G>A (p.Gly93Arg) rs1553259691
NM_000530.8(MPZ):c.301T>C (p.Trp101Arg) rs1060503423
NM_000530.8(MPZ):c.389A>G (p.Lys130Arg) rs281865127
NM_000530.8(MPZ):c.401A>T (p.Asp134Val) rs1571818775
NM_000530.8(MPZ):c.449-2A>G rs2102258343
NM_000531.6(OTC):c.275G>A (p.Arg92Gln) rs66550389
NM_000531.6(OTC):c.387-1G>A rs1602029522
NM_000531.6(OTC):c.407A>T (p.Asp136Val) rs72556257
NM_000531.6(OTC):c.422G>C (p.Arg141Pro) rs68026851
NM_000531.6(OTC):c.491C>T (p.Ser164Leu) rs72556274
NM_000531.6(OTC):c.506C>T (p.Pro169Leu) rs72556278
NM_000531.6(OTC):c.540+265G>A rs1555975756
NM_000531.6(OTC):c.717G>C (p.Glu239Asp) rs66851495
NM_000531.6(OTC):c.77G>T (p.Arg26Leu) rs68031618
NM_000531.6(OTC):c.867G>A (p.Lys289=) rs72558456
NM_000531.6(OTC):c.974C>T (p.Pro325Leu) rs1602034625
NM_000532.5(PCCB):c.1091-8_1091-3del rs1249235758
NM_000532.5(PCCB):c.1207C>T (p.Gln403Ter) rs768935968
NM_000532.5(PCCB):c.1218_1231delinsTAGAGCACAGGA (p.Gly407fs) rs397507445
NM_000532.5(PCCB):c.517_518del (p.Leu173fs) rs755776820
NM_000532.5(PCCB):c.611C>T (p.Ala204Val) rs760499581
NM_000533.5(PLP1):c.295C>T (p.Gln99Ter) rs1602382829
NM_000533.5(PLP1):c.551G>A (p.Cys184Tyr) rs1602384238
NM_000533.5(PLP1):c.665C>G (p.Ser222Cys) rs2147766999
NM_000535.7(PMS2):c.1171G>C (p.Asp391His) rs1064795020
NM_000535.7(PMS2):c.1180A>G (p.Lys394Glu) rs1583323711
NM_000535.7(PMS2):c.1219A>G (p.Arg407Gly) rs776725795
NM_000535.7(PMS2):c.1271T>C (p.Phe424Ser) rs876661186
NM_000535.7(PMS2):c.134A>G (p.Asn45Ser) rs1554306353
NM_000535.7(PMS2):c.1354G>C (p.Gly452Arg) rs569947936
NM_000535.7(PMS2):c.1437C>G (p.His479Gln) rs63750685
NM_000535.7(PMS2):c.1473G>C (p.Glu491Asp) rs530105089
NM_000535.7(PMS2):c.1511A>G (p.Glu504Gly) rs1254121331
NM_000535.7(PMS2):c.1534G>A (p.Gly512Ser) rs1060503127
NM_000535.7(PMS2):c.1564A>G (p.Ser522Gly) rs1554297553
NM_000535.7(PMS2):c.1593_1610dup (p.His532_Glu537dup) rs587780043
NM_000535.7(PMS2):c.1633T>C (p.Ser545Pro) rs1247571278
NM_000535.7(PMS2):c.1688G>T (p.Arg563Leu) rs63750668
NM_000535.7(PMS2):c.1700A>G (p.Gln567Arg) rs112104877
NM_000535.7(PMS2):c.1721del (p.Pro574fs) rs1583316404
NM_000535.7(PMS2):c.1759A>C (p.Ser587Arg) rs1554297277
NM_000535.7(PMS2):c.1831dup (p.Ile611fs) rs63750250
NM_000535.7(PMS2):c.194T>G (p.Leu65Arg) rs749141001
NM_000535.7(PMS2):c.2167C>G (p.Leu723Val) rs1456057054
NM_000535.7(PMS2):c.2186_2187del (p.Leu729fs) rs587779335
NM_000535.7(PMS2):c.2192_2196del (p.Leu731fs) rs63750695
NM_000535.7(PMS2):c.2502G>T (p.Met834Ile) rs1554292818
NM_000535.7(PMS2):c.353+7C>G rs1057520512
NM_000535.7(PMS2):c.439A>C (p.Thr147Pro) rs1583403496
NM_000535.7(PMS2):c.446A>C (p.Tyr149Ser) rs1554304003
NM_000535.7(PMS2):c.538-8T>C rs922948916
NM_000535.7(PMS2):c.552G>T (p.Met184Ile) rs764853641
NM_000535.7(PMS2):c.706-4del rs60794673
NM_000535.7(PMS2):c.708G>T (p.Leu236Phe) rs201395630
NM_000535.7(PMS2):c.861_864del (p.Arg287fs) rs267608154
NM_000535.7(PMS2):c.862C>T (p.Gln288Ter) rs1583363851
NM_000535.7(PMS2):c.948C>A (p.His316Gln) rs1219573982
NM_000535.7(PMS2):c.989-3T>C rs1156325177
NM_000539.3(RHO):c.1034T>C (p.Val345Ala) rs1578281706
NM_000539.3(RHO):c.173C>G (p.Thr58Arg) rs28933394
NM_000539.3(RHO):c.317G>T (p.Gly106Val) rs1578278417
NM_000539.3(RHO):c.45T>G (p.Asn15Lys) rs1578278088
NM_000539.3(RHO):c.509C>G (p.Pro170Arg) rs1553781176
NM_000539.3(RHO):c.557C>G (p.Ser186Trp) rs371288618
NM_000539.3(RHO):c.937-2A>T rs1578281565
NM_000540.3(RYR1):c.10555C>T (p.Pro3519Ser) rs2145712109
NM_000540.3(RYR1):c.10556C>T (p.Pro3519Leu) rs1600921854
NM_000540.3(RYR1):c.13513G>C (p.Asp4505His) rs150396398
NM_000540.3(RYR1):c.13702C>G (p.Leu4568Val) rs1599646668
NM_000540.3(RYR1):c.13918A>G (p.Met4640Val) rs756850145
NM_000540.3(RYR1):c.14592CAA[1] (p.Asn4865del) rs2145896801
NM_000540.3(RYR1):c.14693T>C (p.Ile4898Thr) rs118192170
NM_000540.3(RYR1):c.2936C>G (p.Ala979Gly) rs769902566
NM_000540.3(RYR1):c.5011G>A (p.Ala1671Thr) rs1316064829
NM_000540.3(RYR1):c.7073T>A (p.Ile2358Asn) rs1600820232
NM_000540.3(RYR1):c.7123G>C (p.Gly2375Arg) rs1568501059
NM_000541.5(SAG):c.571C>T (p.Gln191Ter) rs1574942567
NM_000543.5(SMPD1):c.1264-1G>C rs1057516454
NM_000545.8(HNF1A):c.-124G>C rs563304627
NM_000545.8(HNF1A):c.1135C>G (p.Pro379Ala) rs754729248
NM_000545.8(HNF1A):c.1136del (p.Pro379fs) rs1593060859
NM_000545.8(HNF1A):c.1762C>T (p.Pro588Ser) rs1029590003
NM_000546.6(TP53):c.-29+5G>T rs1597400604
NM_000546.6(TP53):c.-43G>T rs1166313179
NM_000546.6(TP53):c.1069A>G (p.Lys357Glu) rs1567541856
NM_000546.6(TP53):c.145G>C (p.Asp49His) rs587780728
NM_000546.6(TP53):c.234_263del (p.Ala79_Ala88del) rs754312472
NM_000546.6(TP53):c.256G>A (p.Ala86Thr) rs587782148
NM_000546.6(TP53):c.257_279del (p.Ala86fs) rs886041861
NM_000546.6(TP53):c.285T>G (p.Ser95=) rs876658696
NM_000546.6(TP53):c.31G>C (p.Glu11Gln) rs201382018
NM_000546.6(TP53):c.320A>G (p.Tyr107Cys) rs587782447
NM_000546.6(TP53):c.376-158del rs5819162
NM_000546.6(TP53):c.376-160_376-158del rs5819162
NM_000546.6(TP53):c.376-161_376-158del rs5819162
NM_000546.6(TP53):c.380C>T (p.Ser127Phe) rs730881999
NM_000546.6(TP53):c.390_426del (p.Asn131fs) rs1597371154
NM_000546.6(TP53):c.396G>C (p.Lys132Asn) rs866775781
NM_000546.6(TP53):c.417G>T (p.Lys139Asn) rs1567554121
NM_000546.6(TP53):c.451C>T (p.Pro151Ser) rs28934874
NM_000546.6(TP53):c.473G>C (p.Arg158Pro) rs587782144
NM_000546.6(TP53):c.560-9T>G rs794727781
NM_000546.6(TP53):c.623A>G (p.Asp208Gly) rs1464727668
NM_000546.6(TP53):c.66A>G (p.Leu22=) rs748527030
NM_000546.6(TP53):c.708C>G (p.Tyr236Ter) rs1597365202
NM_000546.6(TP53):c.713dup (p.Cys238fs) rs1597365075
NM_000546.6(TP53):c.718A>G (p.Ser240Gly) rs1567549584
NM_000546.6(TP53):c.742C>T (p.Arg248Trp) rs121912651
NM_000546.6(TP53):c.776A>G (p.Asp259Gly) rs745425759
NM_000546.6(TP53):c.797G>A (p.Gly266Glu) rs193920774
NM_000546.6(TP53):c.799C>T (p.Arg267Trp) rs55832599
NM_000546.6(TP53):c.818G>A (p.Arg273His) rs28934576
NM_000546.6(TP53):c.829T>C (p.Cys277Arg) rs1064795369
NM_000546.6(TP53):c.836G>A (p.Gly279Glu) rs1064793881
NM_000546.6(TP53):c.839G>A (p.Arg280Lys) rs121912660
NM_000546.6(TP53):c.845G>C (p.Arg282Pro) rs730882008
NM_000546.6(TP53):c.917G>A (p.Arg306Gln) rs1048095040
NM_000546.6(TP53):c.993+257del rs1373684374
NM_000546.6(TP53):c.993+2T>G rs1597359053
NM_000546.6(TP53):c.993+303T>A rs1567545268
NM_000546.6(TP53):c.993+5T>G rs1310956961
NM_000546.6(TP53):c.997C>T (p.Arg333Cys) rs769934890
NM_000548.5(TSC2):c.1380_1386del (p.Val461fs) rs2151171193
NM_000548.5(TSC2):c.139-1G>A rs1567386603
NM_000548.5(TSC2):c.1513C>T (p.Arg505Ter) rs45517179
NM_000548.5(TSC2):c.1717-2A>C rs1596335963
NM_000548.5(TSC2):c.2027G>C (p.Gly676Ala) rs754556513
NM_000548.5(TSC2):c.2046del (p.Ser683fs) rs397515287
NM_000548.5(TSC2):c.2350A>T (p.Lys784Ter) rs751172150
NM_000548.5(TSC2):c.2501C>G (p.Ser834Ter) rs1596356898
NM_000548.5(TSC2):c.2997_2998dup (p.Leu1000fs) rs1596382268
NM_000548.5(TSC2):c.3040dup (p.Ser1014fs) rs2151432406
NM_000548.5(TSC2):c.3376del (p.Asp1126fs) rs397515125
NM_000548.5(TSC2):c.3669del (p.Asn1224fs) rs137854223
NM_000548.5(TSC2):c.4005+1G>A rs45517324
NM_000548.5(TSC2):c.4005+2T>C rs137854254
NM_000548.5(TSC2):c.4006-2A>G rs397514941
NM_000548.5(TSC2):c.400G>T (p.Glu134Ter) rs1555497641
NM_000548.5(TSC2):c.4146_4162dup (p.Ser1388Ter) rs397514976
NM_000548.5(TSC2):c.4258_4261del (p.Ser1420fs) rs137854132
NM_000548.5(TSC2):c.4279dup (p.Ser1427fs) rs137854113
NM_000548.5(TSC2):c.4524CTT[1] (p.Phe1510del) rs137854239
NM_000548.5(TSC2):c.4550C>G (p.Pro1517Arg) rs1279603512
NM_000548.5(TSC2):c.4685T>C (p.Leu1562Pro) rs45517362
NM_000548.5(TSC2):c.4813_4827dup (p.Gln1605_Cys1609dup) rs1596439426
NM_000548.5(TSC2):c.4876C>A (p.Pro1626Thr) rs2090852831
NM_000548.5(TSC2):c.4936G>C (p.Val1646Leu) rs1064796970
NM_000548.5(TSC2):c.4957T>C (p.Ser1653Pro) rs397515159
NM_000548.5(TSC2):c.5068+27_5069-47del
NM_000548.5(TSC2):c.5068+2T>C rs397515152
NM_000548.5(TSC2):c.5167T>C (p.Ser1723Pro) rs45517408
NM_000548.5(TSC2):c.5212del (p.Ser1738fs) rs1596460606
NM_000548.5(TSC2):c.595del (p.Val199fs) rs2151061858
NM_000548.5(TSC2):c.975+1G>T rs137854200
NM_000551.4(VHL):c.123_137del (p.38SGPEE[1]) rs863224839
NM_000551.4(VHL):c.154G>A (p.Glu52Lys) rs373068386
NM_000551.4(VHL):c.326T>A (p.Ile109Asn) rs398123482
NM_000551.4(VHL):c.640T>A (p.Ter214Arg) rs1575932781
NM_000551.4(VHL):c.83A>G (p.Asp28Gly) rs2125124629
NM_000552.5(VWF):c.3101_3103del (p.Thr1034del) rs368366214
NM_000552.5(VWF):c.3692A>G (p.Asn1231Ser) rs61749368
NM_000552.5(VWF):c.3797C>A (p.Pro1266Gln) rs61749370
NM_000552.5(VWF):c.3797C>T (p.Pro1266Leu) rs61749370
NM_000552.5(VWF):c.5053+82C>T rs75717362
NM_000552.5(VWF):c.5793G>C (p.Gln1931His) rs574811308
NM_000552.5(VWF):c.7988G>C (p.Arg2663Pro) rs149834874
NM_000553.6(WRN):c.839+25del rs370040831
NM_000554.6(CRX):c.480_481del (p.Ser161fs) rs1599991538
NM_000554.6(CRX):c.500_501del (p.Ala166_Ser167insTer) rs1599991611
NM_000554.6(CRX):c.545C>G (p.Ser182Ter) rs2123743235
NM_000554.6(CRX):c.586_587del (p.Ala196fs) rs2123743320
NM_000554.6(CRX):c.766C>T (p.Gln256Ter) rs1968173024
NM_000611.6(CD59):c.83G>A (p.Cys28Tyr) rs1853849281
NM_000628.5(IL10RB):c.476G>A (p.Trp159Ter) rs1373354533
NM_000631.5(NCF4):c.106A>C (p.Thr36Pro) rs200818199
NM_000639.3(FASLG):c.209C>G (p.Pro70Arg) rs1317103645
NM_000639.3(FASLG):c.834A>T (p.Leu278Phe) rs1571333854
NM_000642.2(AGL):c.[1283G>A];[611T>A]
NM_000642.3(AGL):c.1734A>T (p.Arg578Ser) rs1570442236
NM_000642.3(AGL):c.1900-13T>A rs533280246
NM_000642.3(AGL):c.2083C>T (p.Gln695Ter) rs1570445130
NM_000642.3(AGL):c.2433+2T>C rs2100768436
NM_000642.3(AGL):c.2457_2460del (p.Gln820fs) rs1553187237
NM_000642.3(AGL):c.2950-1G>C rs1057516793
NM_000642.3(AGL):c.3492C>G (p.Tyr1164Ter) rs370202718
NM_000642.3(AGL):c.3636G>A (p.Met1212Ile) rs1570487362
NM_000642.3(AGL):c.3637C>T (p.Gln1213Ter) rs1570487381
NM_000642.3(AGL):c.4221del (p.Lys1407fs) rs786204655
NM_000642.3(AGL):c.576T>G (p.Tyr192Ter) rs1571232325
NM_000642.3(AGL):c.74_75del (p.Leu25fs) rs2101053661
NM_000660.7(TGFB1):c.512A>G (p.Tyr171Cys) rs1599893542
NM_000660.7(TGFB1):c.652C>T (p.Arg218Cys) rs104894721
NM_000660.7(TGFB1):c.712G>A (p.Gly238Arg) rs1454205854
NM_000685.5(AGTR1):c.233del (p.Leu78fs) rs1380295297
NM_000701.8(ATP1A1):c.1799C>G (p.Pro600Arg) rs2101055022
NM_000702.4(ATP1A2):c.2105_2106del (p.Cys702fs) rs1558008455
NM_000702.4(ATP1A2):c.671C>T (p.Thr224Ile) rs1230517801
NM_000702.4(ATP1A2):c.835del (p.Arg279fs) rs1558005340
NM_000709.4(BCKDHA):c.454G>A (p.Asp152Asn) rs2122122610
NM_000709.4(BCKDHA):c.743C>T (p.Ala248Val) rs887411374
NM_000718.4(CACNA1B):c.2986_3000del (p.Thr996_Glu1000del) rs145816559
NM_000718.4(CACNA1B):c.2988CACGGAGAAGGAGGC[1] (p.997TEKEA[1]) rs758502874
NM_000718.4(CACNA1B):c.501C>G (p.Asn167Lys) rs4422842
NM_000719.7(CACNA1C):c.1113G>A (p.Trp371Ter) rs1555672574
NM_000719.7(CACNA1C):c.1853T>G (p.Val618Gly) rs2154593437
NM_000719.7(CACNA1C):c.2542GAG[2] (p.Glu850del) rs575583988
NM_000719.7(CACNA1C):c.3500T>C (p.Val1167Ala) rs2153440081
NM_000719.7(CACNA1C):c.595G>A (p.Asp199Asn) rs2154562881
NM_000720.4(CACNA1D):c.1516C>T (p.Pro506Ser) rs1576451128
NM_000751.3(CHRND):c.199-90_199-89insAAGA rs113930536
NM_000784.4(CYP27A1):c.1052T>G (p.Leu351Arg) rs1470602732
NM_000784.4(CYP27A1):c.563G>C (p.Arg188Pro) rs754310499
NM_000785.4(CYP27B1):c.252_262del (p.Thr85fs) rs2140397692
NM_000791.4(DHFR):c.-409_-392del rs201874762
NM_000807.4(GABRA2):c.995C>T (p.Ala332Val) rs2109351409
NM_000810.4(GABRA5):c.902C>G (p.Thr301Arg) rs1595438268
NM_000812.4(GABRB1):c.701C>G (p.Ser234Ter) rs2110051742
NM_000814.6(GABRB3):c.146A>G (p.Asp49Gly) rs2140199587
NM_000814.6(GABRB3):c.694C>T (p.Arg232Ter) rs1595445975
NM_000814.6(GABRB3):c.883G>T (p.Glu295Ter) rs990827657
NM_000817.3(GAD1):c.1525G>A (p.Glu509Lys) rs1381723796
NM_000824.5(GLRB):c.122+1G>A rs1579175843
NM_000829.4(GRIA4):c.1973C>T (p.Ala658Val) rs2136199045
NM_000834.5(GRIN2B):c.-205A>T rs1347159255
NM_000834.5(GRIN2B):c.1458T>A (p.His486Gln) rs763436882
NM_000834.5(GRIN2B):c.1477_1499dup (p.Glu500_Val501insProGlyMetValTer) rs2136479850
NM_000834.5(GRIN2B):c.1672G>A (p.Val558Ile) rs1057519004
NM_000834.5(GRIN2B):c.1721TCTTTG[1] (p.574VF[1]) rs1555111511
NM_000834.5(GRIN2B):c.1849T>A (p.Ser617Thr) rs2136470472
NM_000834.5(GRIN2B):c.2011-2_2038dup rs1591612370
NM_000834.5(GRIN2B):c.2072C>G (p.Thr691Arg) rs2136415828
NM_000834.5(GRIN2B):c.2081A>G (p.Asn694Ser) rs1591612317
NM_000834.5(GRIN2B):c.2192A>G (p.Tyr731Cys) rs1948686521
NM_000834.5(GRIN2B):c.2196T>G (p.Asp732Glu) rs1591611001
NM_000834.5(GRIN2B):c.2216T>C (p.Met739Thr) rs1555103652
NM_000834.5(GRIN2B):c.2402G>A (p.Cys801Tyr) rs2136409921
NM_000834.5(GRIN2B):c.2454G>A (p.Met818Ile) rs2136409777
NM_000834.5(GRIN2B):c.2459G>A (p.Gly820Glu) rs797044849
NM_000834.5(GRIN2B):c.2472G>A (p.Met824Ile) rs2136409732
NM_000834.5(GRIN2B):c.3210T>A (p.Tyr1070Ter) rs1591606580
NM_000834.5(GRIN2B):c.3329G>A (p.Arg1110His) rs1271239566
NM_000834.5(GRIN2B):c.992A>G (p.Gln331Arg) rs1555132930
NM_000836.4(GRIN2D):c.1605G>T (p.Met535Ile) rs1390364278
NM_000836.4(GRIN2D):c.1997C>T (p.Ala666Val) rs2147455888
NM_000836.4(GRIN2D):c.1999G>A (p.Val667Ile) rs886040861
NM_000891.3(KCNJ2):c.526_531dup (p.Ile176_Gly177dup) rs1598211251
NM_000937.5(POLR2A):c.5428C>T (p.Arg1810Ter) rs2070732825
NM_000937.5(POLR2A):c.5511_5512= (p.Pro1837_Lys1838=) rs1490940612
NM_000939.4(POMC):c.394C>G (p.Pro132Ala) rs8192606
NM_000944.5(PPP3CA):c.1311_1315del (p.Ser438fs) rs1578388765
NM_000944.5(PPP3CA):c.762G>T (p.Arg254Ser) rs1334933549
NM_000969.5(RPL5):c.169_172del (p.Asn57fs) rs1558284033
NM_001002295.2(GATA3):c.1058G>A (p.Arg353Lys) rs1564405163
NM_001002295.2(GATA3):c.381_388del (p.Gly128fs) rs2131488863
NM_001002295.2(GATA3):c.708del (p.Ser237fs) rs771019738
NM_001002295.2(GATA3):c.925-3_925-2del rs763236375
NM_001003694.2(BRPF1):c.1755A>C (p.Lys585Asn) rs2125504238
NM_001003694.2(BRPF1):c.2027A>G (p.Lys676Arg) rs2125507908
NM_001003694.2(BRPF1):c.2812dup (p.Gln938fs) rs762904815
NM_001003694.2(BRPF1):c.3152G>A (p.Gly1051Asp) rs2125514693
NM_001003694.2(BRPF1):c.964C>T (p.Gln322Ter) rs2125500524
NM_001003800.2(BICD2):c.1993G>T (p.Val665Leu) rs587777885
NM_001005242.3(PKP2):c.1170+2T>C rs397516987
NM_001005242.3(PKP2):c.2299C>A (p.Arg767Ser) rs139734328
NM_001005273.3(CHD3):c.3505C>T (p.Arg1169Trp) rs1567861468
NM_001005273.3(CHD3):c.5541dup (p.Lys1848fs) rs2151667298
NM_001005361.3(DNM2):c.1816G>T (p.Ala606Ser) rs2146181196
NM_001005361.3(DNM2):c.2372C>T (p.Pro791Leu) rs780738840
NM_001005373.4(LRSAM1):c.1037_1040del (p.Asn346fs) rs1588121150
NM_001005373.4(LRSAM1):c.2084G>A (p.Cys695Tyr) rs2132133868
NM_001007228.2(SPOP):c.312C>A (p.Phe104Leu) rs2143269972
NM_001007228.2(SPOP):c.430G>A (p.Asp144Asn) rs2072153488
NM_001008216.2(GALE):c.408C>A (p.Tyr136Ter) rs727503943
NM_001008537.3(NEXMIF):c.1882C>T (p.Arg628Ter) rs786205208
NM_001008537.3(NEXMIF):c.2869C>T (p.Gln957Ter) rs2147439880
NM_001008537.3(NEXMIF):c.3689del (p.Ala1230fs) rs1602210960
NM_001009944.3(PKD1):c.10546_10547insCAGC (p.Leu3516fs) rs2151710316
NM_001009944.3(PKD1):c.11240C>A (p.Pro3747Gln) rs2151701971
NM_001009944.3(PKD1):c.11461C>T (p.Gln3821Ter) rs1325300747
NM_001009944.3(PKD1):c.12004-7_12012dup rs1596475487
NM_001009944.3(PKD1):c.12095G>A (p.Gly4032Asp) rs142768096
NM_001009944.3(PKD1):c.1543G>A (p.Gly515Arg) rs1555458704
NM_001009944.3(PKD1):c.1722+1G>T rs1567214706
NM_001009944.3(PKD1):c.1931del (p.Gly644fs) rs1596580483
NM_001009944.3(PKD1):c.2048G>A (p.Trp683Ter) rs1174034883
NM_001009944.3(PKD1):c.2180T>C (p.Leu727Pro) rs1616940
NM_001009944.3(PKD1):c.2828_2831del (p.Ala943fs) rs1596574774
NM_001009944.3(PKD1):c.330del (p.Phe111fs) rs2151826084
NM_001009944.3(PKD1):c.3597_3601dup (p.Ala1201fs) rs2151800732
NM_001009944.3(PKD1):c.3804_3805del (p.Asn1269fs) rs1596561773
NM_001009944.3(PKD1):c.4243del (p.Asp1415fs) rs34495017
NM_001009944.3(PKD1):c.4906C>T (p.Gln1636Ter) rs1596557266
NM_001009944.3(PKD1):c.4929C>G (p.Tyr1643Ter) rs752948922
NM_001009944.3(PKD1):c.6148A>G (p.Asn2050Asp) rs1302127440
NM_001009944.3(PKD1):c.8672CCAACTCCG[3] (p.2891ANS[3]) rs763199524
NM_001009944.3(PKD1):c.8762A>G (p.His2921Arg) rs1555450920
NM_001009944.3(PKD1):c.8767C>T (p.Gln2923Ter) rs747638599
NM_001012339.3(DNAJC21):c.982del (p.Ala328fs) rs1580531090
NM_001012720.2(RGR):c.820del (p.Arg274fs) rs1589337745
NM_001015877.2(PHF6):c.729+5G>A rs993377069
NM_001018005.2(TPM1):c.179A>G (p.Tyr60Cys) rs1596303148
NM_001018115.3(FANCD2):c.1098+4A>G rs664233
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.1279-1G>A rs1294791314
NM_001018115.3(FANCD2):c.2022-5C>T rs4019784
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.3278T>A (p.Val1093Asp)
NM_001018115.3(FANCD2):c.3777+83_3777+86del rs773716319
NM_001018115.3(FANCD2):c.4234_4239del (p.Ser1412_Glu1413del) rs766605179
NM_001022.4(RPS19):c.214G>T (p.Val72Phe) rs1600621248
NM_001023570.4(IQCB1):c.1410+74AT[4] rs1553709033
NM_001023570.4(IQCB1):c.1410+81GT[17] rs57816005
NM_001024630.4(RUNX2):c.225GGCGGCTGCGGCGGCGGC[1] (p.Ala84_Ala89del) rs11498192
NM_001024630.4(RUNX2):c.371C>A (p.Ser124Ter) rs1582095109
NM_001024630.4(RUNX2):c.581-1G>A rs2150371825
NM_001025295.3(IFITM5):c.-14C>T rs587776916
NM_001025616.3(ARHGAP24):c.2207C>A (p.Pro736His) rs979225533
NM_001029883.2(PCARE):c.3673_3675dupAGC
NM_001029896.2(WDR45):c.130+1G>C rs2147817628
NM_001029896.2(WDR45):c.170T>C (p.Leu57Pro) rs1602540331
NM_001029896.2(WDR45):c.235+2T>G rs1602540211
NM_001029896.2(WDR45):c.599dup (p.Asn201fs) rs1557084066
NM_001029896.2(WDR45):c.618del (p.Val207fs) rs1602538023
NM_001029896.2(WDR45):c.746CCT[1] (p.Ser250del) rs1064793294
NM_001029896.2(WDR45):c.785A>C (p.His262Pro) rs2147815135
NM_001029896.2(WDR45):c.78_79del (p.Glu26fs) rs2147817681
NM_001029896.2(WDR45):c.827+1G>T rs1557083958
NM_001031710.3(KLHL7):c.936+3731_936+3735del rs141774430
NM_001031725.6(DDX59):c.185del (p.Phe62fs) rs773114666
NM_001032221.6(STXBP1):c.1108C>T (p.Gln370Ter) rs2131501460
NM_001032221.6(STXBP1):c.1236del (p.Phe413_Leu414insTer) rs1588339898
NM_001032221.6(STXBP1):c.1652G>A (p.Arg551His)
NM_001032221.6(STXBP1):c.236C>T (p.Pro79Leu) rs1588302912
NM_001032221.6(STXBP1):c.241G>T (p.Glu81Ter) rs1461664423
NM_001032221.6(STXBP1):c.303_305del (p.Ala102del) rs1588306876
NM_001032221.6(STXBP1):c.423A>T (p.Glu141Asp) rs1588309392
NM_001032221.6(STXBP1):c.430-1G>A rs796053354
NM_001032221.6(STXBP1):c.579-1G>A rs1588317190
NM_001032221.6(STXBP1):c.795-2A>C rs2131481227
NM_001032221.6(STXBP1):c.862T>C (p.Trp288Arg) rs1588324025
NM_001032221.6(STXBP1):c.874C>T (p.Arg292Cys) rs786205598
NM_001032382.2(PQBP1):c.334_354del (p.Gly113_Arg119del) rs606231198
NM_001032386.2(SUOX):c.1388C>T (p.Ser463Phe) rs1565799921
NM_001032386.2(SUOX):c.332T>A (p.Val111Asp) rs794729211
NM_001033561.2(PHF12):c.512C>T (p.Ala171Val) rs999428680
NM_001033561.2(PHF12):c.92C>A (p.Pro31His) rs1312516384
NM_001033855.3(DCLRE1C):c.1691A>G (p.Glu564Gly) rs1588892169
NM_001033855.3(DCLRE1C):c.206T>A (p.Leu69Ter) rs1589136659
NM_001034853.2(RPGR):c.194G>A (p.Gly65Asp) rs1601982532
NM_001034853.2(RPGR):c.2023G>T (p.Glu675Ter) rs1601924184
NM_001034853.2(RPGR):c.2140G>T (p.Glu714Ter) rs2147199519
NM_001034853.2(RPGR):c.2185G>T (p.Glu729Ter) rs1601923813
NM_001034853.2(RPGR):c.2218G>T (p.Glu740Ter) rs983693027
NM_001034853.2(RPGR):c.2470G>T (p.Gly824Ter) rs2147197584
NM_001034853.2(RPGR):c.248-2A>G rs62638633
NM_001034853.2(RPGR):c.2522_2525dup (p.Glu843fs) rs2147197113
NM_001034853.2(RPGR):c.2522del (p.Glu841fs) rs1601922202
NM_001034853.2(RPGR):c.280T>C (p.Cys94Arg) rs1601978925
NM_001034853.2(RPGR):c.29-2A>G rs2147291936
NM_001034853.2(RPGR):c.2987AAG[2] (p.Glu998del) rs1356107537
NM_001034853.2(RPGR):c.3092_3093del (p.Glu1031fs) rs606231181
NM_001034853.2(RPGR):c.310+1_310+2insGGTGCTCAACCT rs1601978817
NM_001034853.2(RPGR):c.3104_3105del (p.Glu1035fs) rs1601917999
NM_001034853.2(RPGR):c.310G>T (p.Glu104Ter) rs1601978823
NM_001034853.2(RPGR):c.3184G>T (p.Glu1062Ter) rs2147190626
NM_001034853.2(RPGR):c.3200_3218dup (p.Glu1075fs) rs2147190484
NM_001034853.2(RPGR):c.369C>G (p.Asp123Glu) rs2147280505
NM_001034853.2(RPGR):c.389_390del (p.Phe130fs) rs1601974881
NM_001034853.2(RPGR):c.749G>A (p.Cys250Tyr) rs1601961064
NM_001034853.2(RPGR):c.957del (p.Phe319fs) rs1601947074
NM_001035.3(RYR2):c.11939T>A (p.Val3980Asp) rs1573923041
NM_001035.3(RYR2):c.14223_14224insTTTTT (p.His4742fs) rs1574034151
NM_001035.3(RYR2):c.4693C>G (p.Pro1565Ala) rs778783933
NM_001037333.3(CYFIP2):c.259C>A (p.Arg87Ser) rs1131692231
NM_001037333.3(CYFIP2):c.259C>T (p.Arg87Cys) rs1131692231
NM_001038.6(SCNN1A):c.1221_1227dup (p.Lys410fs) rs1565478701
NM_001038.6(SCNN1A):c.1439+1G>A rs1369791519
NM_001039.4(SCNN1G):c.1016T>G (p.Phe339Cys) rs957875115
NM_001039141.3(TRIOBP):c.1193_1195del (p.Gln398del) rs55745992
NM_001039591.3(USP9X):c.3905C>T (p.Ala1302Val) rs2147171235
NM_001039591.3(USP9X):c.5717C>T (p.Thr1906Ile) rs2147245804
NM_001039591.3(USP9X):c.6085+6T>C rs2063214510
NM_001039591.3(USP9X):c.7431+9dup rs774054468
NM_001040108.2(MLH3):c.1189_1191del (p.Ile397del) rs777369430
NM_001040108.2(MLH3):c.2666C>T (p.Thr889Ile) rs1266112326
NM_001040142.2(SCN2A):c.121C>T (p.Arg41Cys) rs747086776
NM_001040142.2(SCN2A):c.1267G>C (p.Val423Leu) rs796053180
NM_001040142.2(SCN2A):c.1271T>G (p.Val424Gly) rs796053181
NM_001040142.2(SCN2A):c.1384-2A>G rs1574571769
NM_001040142.2(SCN2A):c.2566C>T (p.Arg856Ter) rs1553579225
NM_001040142.2(SCN2A):c.2638G>A (p.Ala880Thr) rs1574641522
NM_001040142.2(SCN2A):c.2659G>C (p.Val887Leu) rs1574641605
NM_001040142.2(SCN2A):c.2725G>A (p.Glu909Lys) rs1553579374
NM_001040142.2(SCN2A):c.2854G>T (p.Glu952Ter) rs1553579543
NM_001040142.2(SCN2A):c.3040A>T (p.Ile1014Phe) rs2105336961
NM_001040142.2(SCN2A):c.3209dup (p.Asp1070fs) rs2105337298
NM_001040142.2(SCN2A):c.3399+1del rs2105337639
NM_001040142.2(SCN2A):c.3664A>C (p.Ser1222Arg) rs1574697769
NM_001040142.2(SCN2A):c.3997G>T (p.Ala1333Ser) rs796053132
NM_001040142.2(SCN2A):c.4243C>A (p.Leu1415Ile) rs1574716524
NM_001040142.2(SCN2A):c.4316T>G (p.Leu1439Ter) rs2105384553
NM_001040142.2(SCN2A):c.4517C>G (p.Ser1506Ter) rs1287017958
NM_001040142.2(SCN2A):c.4635G>C (p.Met1545Ile) rs1574746733
NM_001040142.2(SCN2A):c.4635G>T (p.Met1545Ile) rs1574746733
NM_001040142.2(SCN2A):c.4688T>G (p.Leu1563Arg) rs1574746935
NM_001040142.2(SCN2A):c.481A>T (p.Thr161Ser) rs1006842752
NM_001040142.2(SCN2A):c.4886G>A (p.Arg1629His)
NM_001040142.2(SCN2A):c.4913G>C (p.Arg1638Pro) rs1702006258
NM_001040142.2(SCN2A):c.507del (p.Glu169fs) rs1574554892
NM_001040142.2(SCN2A):c.5113A>C (p.Ile1705Leu) rs1574752113
NM_001040142.2(SCN2A):c.5333A>T (p.Asn1778Ile) rs1574752700
NM_001040142.2(SCN2A):c.5918C>G (p.Pro1973Arg) rs1574754680
NM_001040142.2(SCN2A):c.634A>G (p.Asn212Asp) rs2105244906
NM_001040142.2(SCN2A):c.638T>C (p.Val213Ala) rs1574556643
NM_001040142.2(SCN2A):c.788C>T (p.Ala263Val) rs387906686
NM_001040272.6(ADAMTSL1):c.1184dup (p.Ile396fs) rs770166321
NM_001040272.6(ADAMTSL1):c.1392del (p.Ile464fs) rs2133177913
NM_001040716.2(PC):c.1216C>T (p.Arg406Cys) rs1358651584
NM_001040716.2(PC):c.788G>A (p.Arg263Gln) rs769177104
NM_001040716.2(PC):c.815A>G (p.Gln272Arg) rs1591186383
NM_001042424.3(NSD2):c.3353A>G (p.Tyr1118Cys) rs2108976771
NM_001042432.2(CLN3):c.1059C>A (p.Cys353Ter) rs1057516677
NM_001042432.2(CLN3):c.373del (p.Ser125fs) rs1596563048
NM_001042432.2(CLN3):c.382dup (p.Val128fs) rs2141714554
NM_001042492.3(NF1):c.1185+7G>C rs1322791959
NM_001042492.3(NF1):c.1186-1G>A rs876660782
NM_001042492.3(NF1):c.1188_1189del (p.Ile396fs) rs1597682729
NM_001042492.3(NF1):c.1370A>T (p.His457Leu) rs786202763
NM_001042492.3(NF1):c.1528-1G>T rs876660595
NM_001042492.3(NF1):c.1663_1666del (p.Leu555fs) rs2066928095
NM_001042492.3(NF1):c.1854del (p.Asp618fs) rs1597710342
NM_001042492.3(NF1):c.1888dup (p.Val630fs) rs1567846670
NM_001042492.3(NF1):c.1940A>C (p.His647Pro) rs1170252879
NM_001042492.3(NF1):c.1950del (p.Leu650fs) rs1597710658
NM_001042492.3(NF1):c.1989del (p.Asn664fs) rs1202226733
NM_001042492.3(NF1):c.2032C>A (p.Pro678Thr) rs758691069
NM_001042492.3(NF1):c.205-9_205-8del rs2143645174
NM_001042492.3(NF1):c.2244dup (p.Ser749fs) rs1597712758
NM_001042492.3(NF1):c.2251G>C (p.Gly751Arg) rs1567847681
NM_001042492.3(NF1):c.233del (p.Asn78fs) rs1438566555
NM_001042492.3(NF1):c.236T>G (p.Leu79Ter) rs1597629765
NM_001042492.3(NF1):c.2449dup (p.Met817fs) rs1567848755
NM_001042492.3(NF1):c.2537C>A (p.Ala846Asp) rs1555614229
NM_001042492.3(NF1):c.2545_2546dup (p.Val850fs) rs1567848878
NM_001042492.3(NF1):c.269T>A (p.Leu90Gln) rs1555605393
NM_001042492.3(NF1):c.2851-2A>T rs2151430455
NM_001042492.3(NF1):c.2896G>A (p.Ala966Thr) rs876658849
NM_001042492.3(NF1):c.2897C>G (p.Ala966Gly) rs1567849533
NM_001042492.3(NF1):c.3047_3048del (p.Cys1016fs) rs1597716910
NM_001042492.3(NF1):c.3112A>T (p.Arg1038Trp) rs1597717017
NM_001042492.3(NF1):c.3152del (p.Gly1051fs) rs2151432442
NM_001042492.3(NF1):c.3198-4dup rs371047262
NM_001042492.3(NF1):c.3198-6_3198-1del rs1597718651
NM_001042492.3(NF1):c.3199G>T (p.Asp1067Tyr) rs1597718721
NM_001042492.3(NF1):c.3204G>T (p.Leu1068Phe) rs1258842007
NM_001042492.3(NF1):c.3299C>A (p.Ser1100Ter) rs2067124341
NM_001042492.3(NF1):c.3323del (p.Thr1108fs) rs2151434456
NM_001042492.3(NF1):c.333del (p.Lys111fs) rs1597635722
NM_001042492.3(NF1):c.3381_3382del (p.Gly1128fs) rs1597719504
NM_001042492.3(NF1):c.3461A>T (p.Asn1154Ile) rs371544233
NM_001042492.3(NF1):c.3625G>C (p.Val1209Leu) rs1458579232
NM_001042492.3(NF1):c.380_381insT (p.Asn128fs) rs2143672139
NM_001042492.3(NF1):c.3831C>T (p.Gly1277=) rs1597722611
NM_001042492.3(NF1):c.3974+23A>T rs376217184
NM_001042492.3(NF1):c.4076dup (p.Gln1360fs) rs1135402852
NM_001042492.3(NF1):c.4107C>A (p.Tyr1369Ter) rs1597735272
NM_001042492.3(NF1):c.4174-8_4174-6del rs751729752
NM_001042492.3(NF1):c.4234A>G (p.Arg1412Gly) rs1555618515
NM_001042492.3(NF1):c.4285A>T (p.Lys1429Ter) rs758915600
NM_001042492.3(NF1):c.4328C>T (p.Ser1443Leu) rs1555618566
NM_001042492.3(NF1):c.4344_4345insCCT (p.Ser1448_Ile1449insPro) rs1597745583
NM_001042492.3(NF1):c.4381dup (p.Met1461fs) rs1597745689
NM_001042492.3(NF1):c.4431-1G>T rs1597746891
NM_001042492.3(NF1):c.4463del (p.Thr1488fs) rs1597746962
NM_001042492.3(NF1):c.4577+2T>C rs1597747184
NM_001042492.3(NF1):c.4578-12dup rs1597748630
NM_001042492.3(NF1):c.4769T>A (p.Leu1590Ter) rs2067765689
NM_001042492.3(NF1):c.4834A>C (p.Arg1612=) rs755137259
NM_001042492.3(NF1):c.484C>A (p.Gln162Lys) rs1555607073
NM_001042492.3(NF1):c.5045_5046del (p.Asn1681_Cys1682insTer) rs1597829906
NM_001042492.3(NF1):c.5046dup (p.Asn1683Ter) rs1597829913
NM_001042492.3(NF1):c.5079del (p.His1693fs) rs1597829969
NM_001042492.3(NF1):c.5254A>G (p.Lys1752Glu) rs2069338262
NM_001042492.3(NF1):c.5269-2A>T rs1555533548
NM_001042492.3(NF1):c.5379_5380dup (p.Val1794fs) rs1597832021
NM_001042492.3(NF1):c.5489G>A (p.Arg1830His) rs771529172
NM_001042492.3(NF1):c.5501C>G (p.Ser1834Ter) rs1597832235
NM_001042492.3(NF1):c.5609+1G>T rs1131691117
NM_001042492.3(NF1):c.5711A>C (p.Asn1904Thr) rs864622647
NM_001042492.3(NF1):c.5773del (p.Glu1925fs) rs2151544918
NM_001042492.3(NF1):c.5814_5815insTTTTT (p.Ile1939fs) rs1481408918
NM_001042492.3(NF1):c.5815A>T (p.Ile1939Phe) rs1173859882
NM_001042492.3(NF1):c.5847del (p.Met1949fs) rs1597840055
NM_001042492.3(NF1):c.61-1G>T rs1263745475
NM_001042492.3(NF1):c.61-2A>T rs1131691100
NM_001042492.3(NF1):c.6327C>G (p.Phe2109Leu) rs2069688250
NM_001042492.3(NF1):c.6360_6363dup (p.Thr2122fs) rs1597843096
NM_001042492.3(NF1):c.64C>T (p.Pro22Ser) rs1597625794
NM_001042492.3(NF1):c.6540del (p.Ser2181fs) rs1597843853
NM_001042492.3(NF1):c.6546C>G (p.Tyr2182Ter) rs876659768
NM_001042492.3(NF1):c.6577G>C (p.Glu2193Gln) rs1135402891
NM_001042492.3(NF1):c.6623C>T (p.Ala2208Val) rs1555534886
NM_001042492.3(NF1):c.6637A>G (p.Met2213Val) rs864622330
NM_001042492.3(NF1):c.6682C>T (p.Gln2228Ter) rs2069718249
NM_001042492.3(NF1):c.6772C>T (p.Arg2258Ter) rs876658541
NM_001042492.3(NF1):c.6931C>A (p.Leu2311Met) rs1044698498
NM_001042492.3(NF1):c.7062+1G>T rs863224492
NM_001042492.3(NF1):c.7189G>A (p.Gly2397Arg) rs1135402900
NM_001042492.3(NF1):c.7262A>G (p.Asn2421Ser) rs774339063
NM_001042492.3(NF1):c.7458-2_7459del rs1597862010
NM_001042492.3(NF1):c.7700C>G (p.Pro2567Arg) rs754511534
NM_001042492.3(NF1):c.7724_7725dup (p.Asp2576fs) rs1597865858
NM_001042492.3(NF1):c.7923del (p.Glu2641fs) rs1597866921
NM_001042492.3(NF1):c.7971-1G>T rs1417908560
NM_001042492.3(NF1):c.814_819del (p.Ile272_Leu273del) rs2143785976
NM_001042492.3(NF1):c.8377+6509A>T rs1343721620
NM_001042492.3(NF1):c.844C>T (p.Gln282Ter) rs753054046
NM_001042492.3(NF1):c.888+1G>T rs1135402799
NM_001042492.3(NF1):c.889-2A>T rs878853922
NM_001042517.2(DIAPH3):c.1840C>A (p.Pro614Thr) rs200018583
NM_001042517.2(DIAPH3):c.3055dup (p.Arg1019fs) rs753024929
NM_001042545.2(LTBP4):c.3035dup (p.Tyr1013fs) rs59030801
NM_001042646.3(TRAK1):c.1963+101GGA[12] rs10634555
NM_001042681.2(RERE):c.4427C>T (p.Pro1476Leu) rs2124354095
NM_001042750.2(STAG2):c.3052G>A (p.Val1018Met) rs2059016659
NM_001048166.1(STIL):c.2594A>C (p.Asn865Thr) rs201989960
NM_001048174.2(MUTYH):c.1001C>T (p.Ala334Val) rs753207020
NM_001048174.2(MUTYH):c.1063del (p.Ala357fs) rs587778536
NM_001048174.2(MUTYH):c.1072C>G (p.Gln358Glu) rs878854183
NM_001048174.2(MUTYH):c.1096A>G (p.Asn366Asp) rs1644888393
NM_001048174.2(MUTYH):c.1174C>G (p.Leu392Val) rs144079536
NM_001048174.2(MUTYH):c.1350GGA[1] (p.Glu452del) rs587778541
NM_001048174.2(MUTYH):c.1417C>T (p.Gln473Ter) rs932830392
NM_001048174.2(MUTYH):c.1434+3A>T rs1553123967
NM_001048174.2(MUTYH):c.14G>C (p.Arg5Pro) rs587780081
NM_001048174.2(MUTYH):c.1515T>A (p.Phe505Leu) rs1557444106
NM_001048174.2(MUTYH):c.181G>C (p.Asp61His) rs1557486724
NM_001048174.2(MUTYH):c.213C>A (p.Ser71Arg) rs752209909
NM_001048174.2(MUTYH):c.278T>C (p.Met93Thr) rs1557484437
NM_001048174.2(MUTYH):c.337del (p.Gln113fs) rs1553129638
NM_001048174.2(MUTYH):c.421-2A>G rs786203161
NM_001048174.2(MUTYH):c.461G>A (p.Arg154His) rs143353451
NM_001048174.2(MUTYH):c.484G>T (p.Ala162Ser) rs764458059
NM_001048174.2(MUTYH):c.493-5A>T rs758377868
NM_001048174.2(MUTYH):c.571A>G (p.Thr191Ala) rs771064557
NM_001048174.2(MUTYH):c.606+21C>A rs148552450
NM_001048174.2(MUTYH):c.606+3G>C rs1553128340
NM_001048174.2(MUTYH):c.607-18_607-17del rs765157527
NM_001048174.2(MUTYH):c.610A>G (p.Thr204Ala) rs587782351
NM_001048174.2(MUTYH):c.610A>T (p.Thr204Ser) rs587782351
NM_001048174.2(MUTYH):c.652G>T (p.Val218Phe) rs587780749
NM_001048174.2(MUTYH):c.704+16A>G rs747251904
NM_001048174.2(MUTYH):c.743G>A (p.Gly248Glu) rs1557471507
NM_001065.4(TNFRSF1A):c.123T>G (p.Asp41Glu) rs104895271
NM_001069.3(TUBB2A):c.1171C>T (p.Arg391Cys) rs1554122907
NM_001069.3(TUBB2A):c.148T>C (p.Tyr50His) rs1762626709
NM_001075098.3(MOCS1):c.[853G>A;c.1015C>T]
NM_001077350.3(NPRL3):c.301C>T (p.Gln101Ter) rs1596528731
NM_001077365.2(POMT1):c.2126T>C (p.Leu709Pro) rs776988725
NM_001077446.4(TSEN34):c.862_865dup (p.Leu289fs) rs1246937494
NM_001079668.3(NKX2-1):c.267dup (p.His90fs) rs1594407150
NM_001079668.3(NKX2-1):c.464-2A>T rs587776708
NM_001079668.3(NKX2-1):c.524C>A (p.Ser175Ter) rs863225300
NM_001079668.3(NKX2-1):c.533del (p.Asp178fs) rs2139408021
NM_001079668.3(NKX2-1):c.623G>C (p.Arg208Pro) rs1325836054
NM_001079668.3(NKX2-1):c.713G>C (p.Trp238Ser) rs28936672
NM_001079668.3(NKX2-1):c.714G>A (p.Trp238Ter) rs1594403990
NM_001079668.3(NKX2-1):c.789CGG[3] (p.Gly271del) rs769203758
NM_001079668.3(NKX2-1):c.796GGCGGGGGC[3] (p.Gly269_Gly271dup) rs577015120
NM_001079668.3(NKX2-1):c.961C>A (p.Gln321Lys) rs1594403453
NM_001079843.3(CASZ1):c.2816+8G>A rs1184543145
NM_001079866.2(BCS1L):c.655+1G>C rs1057516802
NM_001079872.2(CUL4B):c.1386del (p.Phe462fs) rs1602577238
NM_001079872.2(CUL4B):c.2482A>G (p.Arg828Gly) rs2147318916
NM_001080.3(ALDH5A1):c.1014+60TG[6] rs199737070
NM_001080421.3(UNC13A):c.523+6T>C rs2145893220
NM_001080442.3(SLC38A8):c.388+1G>T rs149436446
NM_001080449.3(DNA2):c.1644_1647del (p.Asp548fs) rs768077989
NM_001080467.3(MYO5B):c.2470C>T (p.Arg824Cys) rs777038090
NM_001080467.3(MYO5B):c.3276+5G>A rs727505395
NM_001080517.3(SETD5):c.1082G>C (p.Arg361Pro) rs2125212022
NM_001080517.3(SETD5):c.3855dup (p.Ser1286fs) rs1553641476
NM_001080517.3(SETD5):c.51A>G (p.Ser17=) rs1394101476
NM_001080517.3(SETD5):c.922C>T (p.Arg308Ter) rs1421204500
NM_001080522.2(CC2D2A):c.[4093_4095delGAA];[4595_4596delCT]
NM_001081.4(CUBN):c.8599G>C (p.Val2867Leu) rs1588623316
NM_001082971.2(DDC):c.440G>T (p.Ser147Ile) rs1585237892
NM_001082971.2(DDC):c.995A>G (p.Tyr332Cys) rs2153536214
NM_001083116.3(PRF1):c.1016T>G (p.Val339Gly) rs2132475924
NM_001083116.3(PRF1):c.148G>A (p.Val50Met) rs776299562
NM_001083116.3(PRF1):c.1511G>T (p.Gly504Val) rs1848155155
NM_001083614.2(EARS2):c.209G>T (p.Ser70Ile) rs201941745
NM_001083614.2(EARS2):c.286G>A (p.Glu96Lys) rs397514593
NM_001083614.2(EARS2):c.684C>A (p.Tyr228Ter) rs1445826036
NM_001083619.3(GRIA2):c.1915G>T (p.Ala639Ser) rs1579377564
NM_001083619.3(GRIA2):c.1927G>A (p.Ala643Thr) rs2126951757
NM_001083619.3(GRIA2):c.2505C>A (p.Phe835Leu) rs1294146084
NM_001083962.2(TCF4):c.1438C>T (p.Gln480Ter) rs727505396
NM_001083962.2(TCF4):c.1486G>A (p.Gly496Ser) rs1599570613
NM_001083962.2(TCF4):c.1699_1701del (p.Lys567del) rs2144408449
NM_001083962.2(TCF4):c.327C>A (p.Tyr109Ter) rs1418586166
NM_001083962.2(TCF4):c.469del (p.Arg157fs) rs1569138023
NM_001083962.2(TCF4):c.539del (p.Leu180fs) rs1603282307
NM_001083962.2(TCF4):c.790-2A>G rs1600866162
NM_001083962.2(TCF4):c.918_922+8del rs1600861021
NM_001083962.2(TCF4):c.968C>T (p.Ala323Val) rs797045003
NM_001089.3(ABCA3):c.1502C>A (p.Ala501Glu) rs141621969
NM_001098.3(ACO2):c.1966_1969del (p.Arg656fs) rs1601936467
NM_001098484.3(SLC4A4):c.1904-74_1904-73del rs747897537
NM_001099271.2(POC5):c.1336G>A (p.Ala446Thr) rs34678567
NM_001099274.3(TINF2):c.1202dup (p.Asn401fs) rs1180727461
NM_001099922.3(ALG13):c.120A>C (p.Gln40His) rs2147624939
NM_001099922.3(ALG13):c.1265G>T (p.Gly422Val) rs2148135895
NM_001099922.3(ALG13):c.320A>G (p.Asn107Ser) rs398122394
NM_001100.4(ACTA1):c.1004C>G (p.Pro335Arg) rs1057518493
NM_001100.4(ACTA1):c.1127G>T (p.Cys376Phe) rs1571892196
NM_001100.4(ACTA1):c.209A>G (p.Lys70Arg) rs1571893885
NM_001100.4(ACTA1):c.359A>T (p.Lys120Met) rs2102736219
NM_001100.4(ACTA1):c.762C>G (p.Asn254Lys) rs1571892988
NM_001100913.3(PACS2):c.2386C>A (p.Arg796=) rs1595193008
NM_001100913.3(PACS2):c.625G>A (p.Glu209Lys) rs1555408401
NM_001101.5(ACTB):c.141G>A (p.Met47Ile) rs2128241411
NM_001101.5(ACTB):c.617G>A (p.Arg206Gln) rs886039472
NM_001101362.3(KBTBD13):c.610G>T (p.Val204Leu) rs1334100611
NM_001102401.4(TTI2):c.1397A>C (p.Asp466Ala) rs2128826581
NM_001105247.2(ARMC5):c.1864+113del rs2142576031
NM_001109878.2(TBX22):c.-2-7C>G rs185298778
NM_001109878.2(TBX22):c.452G>T (p.Arg151Leu) rs368136178
NM_001110556.2(FLNA):c.3487G>C (p.Val1163Leu) rs2148112185
NM_001110792.2(MECP2):c.*98dup rs267608341
NM_001110792.2(MECP2):c.1153_1207del (p.Ser385fs) rs1603307865
NM_001110792.2(MECP2):c.1169C>G (p.Ala390Gly) rs201314910
NM_001110792.2(MECP2):c.1173dup (p.Val392fs) rs1557135793
NM_001110792.2(MECP2):c.1193_1233del (p.Leu398fs) rs267608327
NM_001110792.2(MECP2):c.1193_1236del (p.Leu398fs) rs63749748
NM_001110792.2(MECP2):c.1200_1243del (p.Pro400_Pro401insTer) rs61752992
NM_001110792.2(MECP2):c.1244C>G (p.Pro415Arg) rs587783107
NM_001110792.2(MECP2):c.310_311dup (p.Pro105fs) rs267608446
NM_001110792.2(MECP2):c.352C>T (p.Arg118Trp) rs28934907
NM_001110792.2(MECP2):c.3G>A (p.Met1Ile) rs2148770984
NM_001110792.2(MECP2):c.433C>T (p.Arg145Cys) rs28934904
NM_001110792.2(MECP2):c.44_57dup (p.Arg20fs) rs1603341328
NM_001110792.2(MECP2):c.487G>T (p.Asp163Tyr) rs1557137042
NM_001110792.2(MECP2):c.491C>G (p.Pro164Arg) rs61748404
NM_001110792.2(MECP2):c.502G>T (p.Asp168Tyr) rs1603309620
NM_001110792.2(MECP2):c.509C>T (p.Thr170Met) rs28934906
NM_001110792.2(MECP2):c.520A>G (p.Arg174Gly) rs727505391
NM_001110792.2(MECP2):c.541G>T (p.Glu181Ter) rs1603309480
NM_001110792.2(MECP2):c.553C>A (p.Pro185Thr) rs61748427
NM_001110792.2(MECP2):c.618dup (p.Gly207fs) rs2148663602
NM_001110792.2(MECP2):c.62+1G>A rs786205048
NM_001110792.2(MECP2):c.62+5469A>T rs1557149865
NM_001110792.2(MECP2):c.62+5503del rs372915987
NM_001110792.2(MECP2):c.642del (p.Thr215fs) rs2148663473
NM_001110792.2(MECP2):c.724C>A (p.Pro242Thr) rs1209806388
NM_001110792.2(MECP2):c.785dup (p.Gly264fs) rs1603308963
NM_001110792.2(MECP2):c.803A>G (p.Lys268Arg) rs2148662691
NM_001110792.2(MECP2):c.940C>G (p.Pro314Ala) rs61751373
NM_001110792.2(MECP2):c.946AAG[1] (p.Lys317del) rs2148661952
NM_001110792.2(MECP2):c.997A>G (p.Lys333Glu) rs2148661783
NM_001111.5(ADAR):c.2729A>G (p.His910Arg) rs1571063283
NM_001111.5(ADAR):c.3143T>C (p.Leu1048Pro) rs1571050825
NM_001111.5(ADAR):c.638del (p.Pro213fs) rs1571110353
NM_001111067.4(ACVR1):c.1067G>A (p.Gly356Asp) rs121912679
NM_001111125.3(IQSEC2):c.1553T>C (p.Leu518Pro) rs987032967
NM_001111125.3(IQSEC2):c.1967del (p.Pro656fs) rs1602283534
NM_001111125.3(IQSEC2):c.2840dup (p.His947fs) rs2147059978
NM_001111125.3(IQSEC2):c.3028T>A (p.Phe1010Ile) rs1602264353
NM_001111125.3(IQSEC2):c.3452-1G>A rs2147010401
NM_001111125.3(IQSEC2):c.3478G>A (p.Gly1160Arg) rs2147010093
NM_001111125.3(IQSEC2):c.3875dup (p.Pro1293fs) rs1569291627
NM_001111125.3(IQSEC2):c.4419del (p.Ser1474fs) rs1569290954
NM_001111125.3(IQSEC2):c.938_939del (p.Ile313fs) rs1602293475
NM_001112741.2(KCNC1):c.1015C>T (p.Arg339Ter) rs1849236683
NM_001112741.2(KCNC1):c.959G>A (p.Arg320His) rs727502818
NM_001113378.2(FANCI):c.2636+11C>G rs1596307878
NM_001113378.2(FANCI):c.3119del (p.Lys1040fs) rs1596324325
NM_001113378.2(FANCI):c.3652-70_3652-69del rs11321073
NM_001114753.3(ENG):c.8G>A (p.Arg3His) rs1588604597
NM_001122630.2(CDKN1C):c.771C>T (p.Ser257=) rs747104008
NM_001122752.2(SERPINI1):c.1174G>C (p.Gly392Arg) rs121909054
NM_001122752.2(SERPINI1):c.829G>A (p.Glu277Lys) rs2108559953
NM_001122955.4(BSCL2):c.486+1G>T rs1011200048
NM_001122955.4(BSCL2):c.493_494insAA (p.Met165fs) rs786205069
NM_001122955.4(BSCL2):c.766-2A>G rs1013079991
NM_001126049.2(KLLN):c.80G>C (p.Arg27Pro) rs899815496
NM_001126108.2(SLC12A3):c.1706C>A (p.Ala569Glu) rs79351185
NM_001126108.2(SLC12A3):c.20_21del (p.Thr7fs) rs750710315
NM_001127208.3(TET2):c.2029_2032del (p.Cys677fs) rs2110231198
NM_001127222.2(CACNA1A):c.1035C>G (p.Ile345Met) rs779827819
NM_001127222.2(CACNA1A):c.1059C>G (p.Asn353Lys) rs1568546593
NM_001127222.2(CACNA1A):c.2131A>G (p.Ile711Val) rs1568514116
NM_001127222.2(CACNA1A):c.2720A>G (p.Glu907Gly) rs2144955398
NM_001127222.2(CACNA1A):c.3515del (p.Pro1172fs) rs1236800371
NM_001127222.2(CACNA1A):c.3578del (p.Pro1193fs) rs1600242882
NM_001127222.2(CACNA1A):c.4045G>A (p.Val1349Met) rs1600198481
NM_001127222.2(CACNA1A):c.4051C>T (p.Arg1351Ter) rs1568473171
NM_001127222.2(CACNA1A):c.4714A>G (p.Met1572Val) rs2056510928
NM_001127222.2(CACNA1A):c.4988G>A (p.Arg1663Gln) rs121908247
NM_001127222.2(CACNA1A):c.5123T>C (p.Ile1708Thr) rs121909326
NM_001127222.2(CACNA1A):c.605C>T (p.Pro202Leu) rs2144559262
NM_001127222.2(CACNA1A):c.6189+4C>A rs2054846468
NM_001127222.2(CACNA1A):c.644T>C (p.Val215Ala) rs1599292631
NM_001127222.2(CACNA1A):c.653C>G (p.Ser218Trp) rs121908225
NM_001127222.2(CACNA1A):c.7266_7271del (p.Ser2423_Gly2424del) rs775428832
NM_001127255.2(NLRP7):c.1137G>C (p.Lys379Asn) rs10418277
NM_001127392.3(MYRF):c.3367G>A (p.Ala1123Thr) rs1591137099
NM_001127644.2(GABRA1):c.268G>A (p.Asp90Asn) rs796052488
NM_001127644.2(GABRA1):c.559T>G (p.Tyr187Asp) rs2113389254
NM_001127644.2(GABRA1):c.897T>G (p.Ser299Arg) rs1581220163
NM_001127644.2(GABRA1):c.902G>A (p.Arg301Lys) rs863225292
NM_001127895.2(CHST8):c.229C>T (p.Arg77Trp) rs149660944
NM_001127898.4(CLCN5):c.1027T>C (p.Phe343Leu) rs2147595245
NM_001127898.4(CLCN5):c.1386_1387del (p.Cys462fs) rs2147596542
NM_001128126.3(AP4S1):c.295-1G>A rs2139098086
NM_001128164.2(ATXN1):c.772G>T (p.Gly258Cys) rs144962740
NM_001128840.3(CACNA1D):c.1013T>G (p.Val338Gly) rs201471889
NM_001128840.3(CACNA1D):c.2248A>T (p.Ile750Phe) rs1576484361
NM_001128840.3(CACNA1D):c.3754A>G (p.Met1252Val) rs2108891897
NM_001130144.3(LTBP3):c.3877_3909dup (p.Pro1293_Arg1303dup) rs2135114515
NM_001130145.3(YAP1):c.257T>C (p.Met86Thr) rs2135086778
NM_001130438.3(SPTAN1):c.6899ACCAGCTGG[3] (p.2300DQL[3]) rs587784440
NM_001130438.3(SPTAN1):c.6905_6946dup (p.Leu2302_Gln2315dup) rs2132089818
NM_001130823.3(DNMT1):c.1619A>G (p.Tyr540Cys) rs1599366421
NM_001130823.3(DNMT1):c.3458_3466dup (p.Pro1153_Leu1155dup) rs1449036579
NM_001130823.3(DNMT1):c.4641G>T (p.Glu1547Asp) rs2145253354
NM_001130987.2(DYSF):c.460+2T>G rs750356247
NM_001134407.3(GRIN2A):c.1328A>G (p.Asn443Ser) rs1596494610
NM_001134407.3(GRIN2A):c.2450T>C (p.Met817Thr) rs1064796608
NM_001134407.3(GRIN2A):c.2453C>A (p.Ala818Glu) rs751455326
NM_001134407.3(GRIN2A):c.250A>T (p.Thr84Ser) rs1006328489
NM_001134407.3(GRIN2A):c.3032G>T (p.Arg1011Leu) rs1163766811
NM_001134407.3(GRIN2A):c.314A>G (p.Asp105Gly) rs797045015
NM_001134407.3(GRIN2A):c.3317_3318insTTTTTTTTTTAAT (p.Lys1107fs) rs1419346546
NM_001134407.3(GRIN2A):c.3320A>T (p.Lys1107Ile) rs1185300490
NM_001134407.3(GRIN2A):c.3321_3322insCGGCG (p.Thr1108fs) rs1215972111
NM_001134407.3(GRIN2A):c.3339_3342del (p.Arg1114fs) rs1379582796
NM_001134407.3(GRIN2A):c.3345_3347del (p.Asp1115_Lys1116delinsGlu) rs1440127051
NM_001134407.3(GRIN2A):c.3712G>A (p.Ala1238Thr) rs2141129928
NM_001134407.3(GRIN2A):c.3G>T (p.Met1Ile) rs868762895
NM_001134407.3(GRIN2A):c.4320del (p.Thr1441fs) rs2141124790
NM_001134771.2(SLC12A5):c.121+1091A>G rs58366483
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_001134831.2(AHI1):c.1205del (p.Pro402fs) rs794729195
NM_001134831.2(AHI1):c.1779G>T (p.Gln593His) rs1583276758
NM_001134831.2(AHI1):c.1829G>C (p.Arg610Pro) rs374009466
NM_001134831.2(AHI1):c.2623+1G>T rs751823180
NM_001134831.2(AHI1):c.2742del (p.Leu915fs) rs1583179845
NM_001135998.3(NDUFB11):c.416C>T (p.Ser139Phe) rs2147049461
NM_001136193.2(FASTKD2):c.1294C>T (p.Arg432Ter) rs118203917
NM_001136193.2(FASTKD2):c.1865A>G (p.Asp622Gly) rs751773316
NM_001136193.2(FASTKD2):c.1898G>T (p.Arg633Ile) rs1574675756
NM_001139.3(ALOX12B):c.435-2A>G rs1598181642
NM_001142416.2(AIMP1):c.162del (p.Lys54fs) rs750731609
NM_001142800.2(EYS):c.1299+5_1299+8del rs1562140604
NM_001142800.2(EYS):c.1328dup (p.Asn443fs) rs1582176424
NM_001142800.2(EYS):c.2055_2056del (p.Ala686fs) rs1583442540
NM_001142800.2(EYS):c.2748C>A (p.Cys916Ter) rs1391928253
NM_001142800.2(EYS):c.2820_2824del (p.Gly941fs) rs1583277585
NM_001142800.2(EYS):c.2981del (p.Pro994fs) rs1583260302
NM_001142800.2(EYS):c.4073del (p.Pro1358fs) rs2149832474
NM_001142800.2(EYS):c.4977_4978del (p.Cys1660fs) rs2149831647
NM_001142800.2(EYS):c.5182del (p.Ser1728fs) rs1562079278
NM_001142800.2(EYS):c.5450G>A (p.Trp1817Ter) rs983691310
NM_001142800.2(EYS):c.7572G>A (p.Trp2524Ter) rs902462590
NM_001142800.2(EYS):c.8408dup (p.Asn2803fs) rs398123576
NM_001142800.2(EYS):c.8590G>T (p.Gly2864Ter) rs1582140331
NM_001142800.2(EYS):c.8750T>A (p.Leu2917Ter) rs764362221
NM_001142800.2(EYS):c.8830del (p.Val2944fs) rs776526721
NM_001142800.2(EYS):c.9186_9187del (p.Asn3062fs) rs886044149
NM_001142800.2(EYS):c.9299_9302del (p.Thr3100fs) rs769824975
NM_001142800.2(EYS):c.9354dup (p.Gln3119fs) rs771640639
NM_001142800.2(EYS):c.9376_9379del (p.Ile3127fs) rs1166245419
NM_001144061.2(COPB1):c.-57-2A>G
NM_001145026.2(PTPRQ):c.6452_6453+2del rs1419198127
NM_001145252.3(CFP):c.985C>T (p.Arg329Ter) rs1603083122
NM_001145358.2(SIN3A):c.2006T>A (p.Leu669His) rs1595897117
NM_001146262.4(SYT14):c.672AGA[1] (p.Glu225del) rs2307890
NM_001148.6(ANK2):c.11574del (p.Cys3859fs) rs2154067204
NM_001148.6(ANK2):c.2806C>G (p.Leu936Val) rs786205725
NM_001161352.2(KCNMA1):c.1437del (p.Lys480fs) rs2153773364
NM_001161352.2(KCNMA1):c.179C>T (p.Ser60Leu) rs768769748
NM_001161748.2(LIM2):c.388C>T (p.Arg130Cys) rs1568480054
NM_001162498.3(LPAR6):c.1A>G (p.Met1Val) rs2138204557
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_001162498.3(LPAR6):c.368_369insAAAAAAAA (p.Ser124fs) rs1370123231
NM_001162498.3(LPAR6):c.369_370del (p.Lys123fs) rs1177544722
NM_001164277.2(SLC37A4):c.1124+3_1124+6del rs782612223
NM_001164277.2(SLC37A4):c.527= (p.Cys176=) rs56966114
NM_001164277.2(SLC37A4):c.703GTG[1] (p.Val236del) rs121908977
NM_001164277.2(SLC37A4):c.818del (p.Gly273fs) rs1592111112
NM_001164277.2(SLC37A4):c.899G>A (p.Arg300His) rs193302903
NM_001164508.2(NEB):c.10612C>T (p.Arg3538Ter) rs779909544
NM_001164508.2(NEB):c.1674+2T>C rs1553603437
NM_001164508.2(NEB):c.17635-3dup rs3214503
NM_001164508.2(NEB):c.19102-10_19102-4del rs1577576425
NM_001164508.2(NEB):c.20467-2A>C rs1392500142
NM_001164508.2(NEB):c.22272+2dup rs773465809
NM_001164508.2(NEB):c.22327C>T (p.Arg7443Ter) rs1576203853
NM_001164508.2(NEB):c.22748C>G (p.Pro7583Arg) rs1575897069
NM_001164508.2(NEB):c.23140C>T (p.Arg7714Ter) rs1575714905
NM_001164508.2(NEB):c.23847del (p.Glu7950fs) rs1575305566
NM_001164508.2(NEB):c.24089_24092dup (p.His8031fs) rs2153020985
NM_001164508.2(NEB):c.24113C>T (p.Ser8038Leu) rs1458048713
NM_001164508.2(NEB):c.24189_24192dup (p.Glu8065fs) rs1553555882
NM_001164508.2(NEB):c.2943G>A (p.Glu981=) rs398124170
NM_001164508.2(NEB):c.870_873del (p.Ser290fs) rs2150050727
NM_001164508.2(NEB):c.8889+1G>A rs1553963960
NM_001165963.4(SCN1A):c.1007G>A (p.Cys336Tyr) rs794726798
NM_001165963.4(SCN1A):c.1019C>A (p.Ser340Tyr) rs2105874070
NM_001165963.4(SCN1A):c.1028+1G>A rs863225030
NM_001165963.4(SCN1A):c.1048_1051del (p.Met350fs) rs2105868028
NM_001165963.4(SCN1A):c.1077T>A (p.Asn359Lys) rs1574240716
NM_001165963.4(SCN1A):c.1177C>T (p.Arg393Cys) rs121917929
NM_001165963.4(SCN1A):c.1178G>A (p.Arg393His) rs121917927
NM_001165963.4(SCN1A):c.1204T>A (p.Phe402Ile) rs796053094
NM_001165963.4(SCN1A):c.126dup (p.Asp43fs) rs1553560831
NM_001165963.4(SCN1A):c.1543A>T (p.Lys515Ter) rs1553545567
NM_001165963.4(SCN1A):c.1751_1752dup (p.Gly585fs) rs2105844086
NM_001165963.4(SCN1A):c.1810dup (p.Arg604fs) rs1574217232
NM_001165963.4(SCN1A):c.1898C>T (p.Ala633Val) rs1574215846
NM_001165963.4(SCN1A):c.195T>G (p.Tyr65Ter) rs1684672231
NM_001165963.4(SCN1A):c.1969_1975del (p.Pro657fs) rs2105841790
NM_001165963.4(SCN1A):c.2012T>C (p.Val671Ala) rs1574214843
NM_001165963.4(SCN1A):c.207del (p.Pro70fs) rs1574371902
NM_001165963.4(SCN1A):c.2131C>T (p.Gln711Ter) rs1574209023
NM_001165963.4(SCN1A):c.2147_2150del (p.Ile716fs) rs1574208760
NM_001165963.4(SCN1A):c.2177-2A>T rs1436792531
NM_001165963.4(SCN1A):c.2214G>A (p.Trp738Ter) rs786205214
NM_001165963.4(SCN1A):c.2287del (p.Leu763fs) rs2105828550
NM_001165963.4(SCN1A):c.2350_2351del (p.Phe784fs) rs1553543215
NM_001165963.4(SCN1A):c.2392A>G (p.Asn798Asp) rs2105827436
NM_001165963.4(SCN1A):c.2415+1G>A rs886041292
NM_001165963.4(SCN1A):c.2475C>A (p.Tyr825Ter) rs1696880667
NM_001165963.4(SCN1A):c.2575C>T (p.Arg859Cys) rs121918784
NM_001165963.4(SCN1A):c.2585G>T (p.Arg862Leu) rs121918785
NM_001165963.4(SCN1A):c.2589+3A>G rs794726775
NM_001165963.4(SCN1A):c.2594G>A (p.Arg865Gln) rs1057517862
NM_001165963.4(SCN1A):c.2624C>A (p.Thr875Lys) rs121918623
NM_001165963.4(SCN1A):c.262_264+1del rs1574371141
NM_001165963.4(SCN1A):c.2644del (p.Ile882fs) rs2105808458
NM_001165963.4(SCN1A):c.2691G>T (p.Leu897Phe) rs1574183148
NM_001165963.4(SCN1A):c.2779T>C (p.Cys927Arg) rs2105807206
NM_001165963.4(SCN1A):c.2801T>G (p.Met934Arg) rs796052987
NM_001165963.4(SCN1A):c.2806G>T (p.Asp936Tyr) rs796052988
NM_001165963.4(SCN1A):c.2878A>G (p.Met960Val) rs121918750
NM_001165963.4(SCN1A):c.2948T>G (p.Val983Gly) rs121918756
NM_001165963.4(SCN1A):c.2951T>C (p.Leu984Pro) rs2105797671
NM_001165963.4(SCN1A):c.2958_2959del (p.Phe987fs) rs794729207
NM_001165963.4(SCN1A):c.323T>A (p.Leu108Gln) rs794726793
NM_001165963.4(SCN1A):c.3311C>G (p.Ser1104Ter) rs1574168611
NM_001165963.4(SCN1A):c.3383_3390del (p.Asn1128fs) rs2105793286
NM_001165963.4(SCN1A):c.3429+1G>T rs1574166948
NM_001165963.4(SCN1A):c.3496C>T (p.Gln1166Ter) rs368609628
NM_001165963.4(SCN1A):c.3531_3534dup (p.Ala1179fs) rs1574069132
NM_001165963.4(SCN1A):c.354G>T (p.Arg118Ser) rs121917959
NM_001165963.4(SCN1A):c.3611G>A (p.Trp1204Ter) rs1559149128
NM_001165963.4(SCN1A):c.3705+5G>A rs1060502189
NM_001165963.4(SCN1A):c.3757_3763dup (p.Ala1255fs) rs1574052179
NM_001165963.4(SCN1A):c.379C>T (p.His127Tyr) rs148442069
NM_001165963.4(SCN1A):c.3824G>A (p.Gly1275Asp) rs796053000
NM_001165963.4(SCN1A):c.384-12A>C rs1574291210
NM_001165963.4(SCN1A):c.3850T>C (p.Trp1284Arg) rs796053001
NM_001165963.4(SCN1A):c.3950C>G (p.Thr1317Arg) rs2105570237
NM_001165963.4(SCN1A):c.4003-14C>T rs1241008825
NM_001165963.4(SCN1A):c.4003-1G>A rs1574007140
NM_001165963.4(SCN1A):c.404T>C (p.Met135Thr) rs1574290850
NM_001165963.4(SCN1A):c.4055T>A (p.Leu1352Gln) rs794726821
NM_001165963.4(SCN1A):c.4112G>A (p.Gly1371Asp) rs865867764
NM_001165963.4(SCN1A):c.4146del (p.Asp1383fs) rs1574005699
NM_001165963.4(SCN1A):c.4284+2del rs2105507548
NM_001165963.4(SCN1A):c.4327G>A (p.Asp1443Asn) rs1573991676
NM_001165963.4(SCN1A):c.4428C>A (p.Asn1476Lys) rs1573984110
NM_001165963.4(SCN1A):c.4429del (p.Leu1477fs) rs2105475986
NM_001165963.4(SCN1A):c.4444A>C (p.Ile1482Leu) rs794729200
NM_001165963.4(SCN1A):c.4539dup (p.Leu1514fs) rs1573973548
NM_001165963.4(SCN1A):c.4581+1G>A rs1689986058
NM_001165963.4(SCN1A):c.4704T>A (p.Tyr1568Ter) rs1573963975
NM_001165963.4(SCN1A):c.473+1G>A rs794726840
NM_001165963.4(SCN1A):c.4862T>C (p.Leu1621Pro) rs1573953706
NM_001165963.4(SCN1A):c.5005G>A (p.Ala1669Thr) rs2105433731
NM_001165963.4(SCN1A):c.5075T>C (p.Phe1692Ser) rs121918778
NM_001165963.4(SCN1A):c.5177G>C (p.Trp1726Ser) rs2105431458
NM_001165963.4(SCN1A):c.5217del (p.Asp1740fs) rs1573949198
NM_001165963.4(SCN1A):c.5261G>A (p.Gly1754Glu) rs796053036
NM_001165963.4(SCN1A):c.5285G>A (p.Gly1762Glu) rs121917950
NM_001165963.4(SCN1A):c.5318_5324del (p.Ser1773fs) rs2105429397
NM_001165963.4(SCN1A):c.5492T>A (p.Phe1831Tyr) rs121918748
NM_001165963.4(SCN1A):c.5531C>T (p.Pro1844Leu) rs2105426648
NM_001165963.4(SCN1A):c.5534A>C (p.Asn1845Thr) rs1689190343
NM_001165963.4(SCN1A):c.5681T>C (p.Met1894Thr) rs562208324
NM_001165963.4(SCN1A):c.5711del (p.Gln1904fs) rs2105424093
NM_001165963.4(SCN1A):c.5769G>C (p.Gln1923His) rs2105423415
NM_001165963.4(SCN1A):c.580G>A (p.Asp194Asn) rs121917935
NM_001165963.4(SCN1A):c.602+3_602+6del rs1698937795
NM_001165963.4(SCN1A):c.635T>C (p.Val212Ala) rs551068385
NM_001165963.4(SCN1A):c.683C>T (p.Ser228Leu) rs1574271644
NM_001165963.4(SCN1A):c.684del (p.Val229fs) rs1574271602
NM_001165963.4(SCN1A):c.716C>A (p.Ala239Asp) rs121917909
NM_001165963.4(SCN1A):c.830G>A (p.Cys277Tyr) rs1574264920
NM_001165963.4(SCN1A):c.839G>A (p.Trp280Ter) rs1698593264
NM_001165963.4(SCN1A):c.929_930del (p.Val309_Phe310insTer) rs2105888823
NM_001165963.4(SCN1A):c.942G>T (p.Trp314Cys) rs1553549471
NM_001165963.4(SCN1A):c.986G>T (p.Gly329Val) rs779184118
NM_001167.4(XIAP):c.1141C>T (p.Arg381Ter) rs1556408009
NM_001167.4(XIAP):c.1458del (p.Val487fs) rs1602562990
NM_001167.4(XIAP):c.609dup (p.Gly204fs) rs1602544507
NM_001170535.3(ATAD3A):c.1361A>G (p.Asn454Ser) rs2100677960
NM_001170535.3(ATAD3A):c.760C>G (p.Leu254Val) rs1170486513
NM_001170629.2(CHD8):c.4440G>T (p.Glu1480Asp) rs2139462537
NM_001170629.2(CHD8):c.6002del (p.Pro2001fs) rs2139447345
NM_001170629.2(CHD8):c.6853AAG[2] (p.Lys2287del) rs755776815
NM_001171.6(ABCC6):c.1609del (p.Val537fs) rs1596678798
NM_001171.6(ABCC6):c.2338del (p.Leu780fs) rs1596649191
NM_001171613.2(PREPL):c.1729G>T (p.Glu577Ter) rs983509465
NM_001172509.2(SATB2):c.1196G>A (p.Arg399His) rs1057518190
NM_001172509.2(SATB2):c.474-2A>G rs1574566973
NM_001172509.2(SATB2):c.925C>T (p.Gln309Ter) rs1574532452
NM_001173523.2(PCDH7):c.2150G>C (p.Gly717Ala) rs1168242393
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_001177316.2(SLC34A3):c.1058G>T (p.Arg353Leu) rs121918234
NM_001177316.2(SLC34A3):c.1217G>T (p.Gly406Val) rs139408872
NM_001182.5(ALDH7A1):c.246+7GT[16] rs142510783
NM_001182.5(ALDH7A1):c.509C>T (p.Pro170Leu) rs2112802656
NM_001182.5(ALDH7A1):c.914-118dup rs759132307
NM_001184.4(ATR):c.1885+65ATTT[8] rs56661838
NM_001184.4(ATR):c.2305C>A (p.Leu769Ile) rs1489808838
NM_001184.4(ATR):c.2327G>C (p.Ser776Thr) rs979155439
NM_001184880.2(PCDH19):c.1031C>G (p.Pro344Arg) rs796052811
NM_001184880.2(PCDH19):c.1091dup (p.Tyr366fs) rs758946412
NM_001184880.2(PCDH19):c.1118dup (p.Ser374fs) rs2147539591
NM_001184880.2(PCDH19):c.1172del (p.Asn391fs) rs1602636591
NM_001184880.2(PCDH19):c.134_135del (p.Asp45fs) rs1602638456
NM_001184880.2(PCDH19):c.1442A>G (p.Asp481Gly) rs1602636096
NM_001184880.2(PCDH19):c.1535C>A (p.Ser512Ter) rs779665170
NM_001184880.2(PCDH19):c.1623del (p.Ser542fs) rs1602635781
NM_001184880.2(PCDH19):c.1787A>G (p.Asp596Gly) rs2147537831
NM_001184880.2(PCDH19):c.1925T>G (p.Val642Gly) rs1602635282
NM_001184880.2(PCDH19):c.1938C>A (p.Asp646Glu) rs1602635261
NM_001184880.2(PCDH19):c.2341dup (p.Ile781fs) rs1060502175
NM_001184880.2(PCDH19):c.260_292del (p.Ile87_Pro97del) rs1602638228
NM_001184880.2(PCDH19):c.2624del (p.Asn875fs) rs34651888
NM_001184880.2(PCDH19):c.2697dup (p.Glu900fs) rs1602595101
NM_001184880.2(PCDH19):c.3404_3405del (p.Lys1135fs) rs999749949
NM_001184880.2(PCDH19):c.493A>C (p.Thr165Pro) rs2147541749
NM_001184880.2(PCDH19):c.498C>A (p.Tyr166Ter) rs796052837
NM_001184880.2(PCDH19):c.729C>A (p.Tyr243Ter) rs1166554052
NM_001184880.2(PCDH19):c.937G>T (p.Glu313Ter) rs1602636952
NM_001184880.2(PCDH19):c.959A>T (p.Asp320Val) rs1602636925
NM_001189.4(NKX3-2):c.104_110del (p.Ala35fs) rs606231354
NM_001190274.2(FBXO11):c.*906G>T rs1572751620
NM_001190274.2(FBXO11):c.1076A>G (p.Asn359Ser) rs1572806551
NM_001190274.2(FBXO11):c.191_199dup (p.Pro64_Pro66dup) rs977093129
NM_001191061.2(SLC25A22):c.-164+135dup rs1312807369
NM_001194998.2(CEP152):c.4378_4379del (p.Val1460fs) rs141600901
NM_001195248.2(APTX):c.484-3_484-2insTTTTTTTTTTTG rs1554664711
NM_001195553.2(DCX):c.266G>A (p.Arg89Gln) rs61729440
NM_001197104.2(KMT2A):c.10802A>G (p.Gln3601Arg) rs1591288712
NM_001197104.2(KMT2A):c.11785A>C (p.Ile3929Leu) rs1591312430
NM_001197104.2(KMT2A):c.173dup (p.Ala59fs) rs1555138552
NM_001197104.2(KMT2A):c.2318dup (p.Ser774fs) rs782297546
NM_001197104.2(KMT2A):c.3019G>T (p.Gly1007Cys) rs940325244
NM_001197104.2(KMT2A):c.3455C>A (p.Ser1152Ter) rs1591381084
NM_001197104.2(KMT2A):c.3461G>A (p.Arg1154Gln) rs1131691799
NM_001197104.2(KMT2A):c.3462del (p.Cys1155fs) rs2134286994
NM_001197104.2(KMT2A):c.3547A>G (p.Asn1183Asp) rs2134287568
NM_001197104.2(KMT2A):c.3592C>T (p.Gln1198Ter) rs1591383060
NM_001197104.2(KMT2A):c.3680_3683del (p.Asp1227fs) rs1591384640
NM_001197104.2(KMT2A):c.4367A>G (p.His1456Arg) rs1131691433
NM_001197104.2(KMT2A):c.4429CGT[1] (p.Arg1478del) rs1591393351
NM_001197104.2(KMT2A):c.502+1G>A rs1591371152
NM_001197104.2(KMT2A):c.5431C>T (p.Arg1811Ter) rs1555043796
NM_001197104.2(KMT2A):c.6989del (p.Gly2330fs) rs2134387390
NM_001197104.2(KMT2A):c.7643del (p.Ala2548fs) rs1591282224
NM_001197104.2(KMT2A):c.7899del (p.Thr2635fs) rs1591282615
NM_001197104.2(KMT2A):c.7914T>A (p.Tyr2638Ter) rs1385902057
NM_001197104.2(KMT2A):c.8204_8225del (p.Ala2735fs) rs2134397119
NM_001198800.3(ASCC1):c.157dup (p.Glu53fs) rs753324947
NM_001201543.2(FAM161A):c.1783C>A (p.Gln595Lys) rs1200918073
NM_001204.7(BMPR2):c.1021G>A (p.Val341Met) rs767882551
NM_001204077.2(UBE4A):c.1185_1186del (p.Lys396fs) rs1565532385
NM_001205293.3(CACNA1E):c.2104G>A (p.Ala702Thr) rs12131800
NM_001205293.3(CACNA1E):c.2366T>C (p.Met789Thr) rs2102549069
NM_001205293.3(CACNA1E):c.3940A>C (p.Lys1314Gln) rs2102682130
NM_001206744.2(TPO):c.2644C>G (p.Leu882Val) rs1572058655
NM_001211.6(BUB1B):c.385-2460_385-2453dup rs979967281
NM_001220.5(CAMK2B):c.1636A>C (p.Ile546Leu) rs2128862429
NM_001220.5(CAMK2B):c.70G>T (p.Ala24Ser) rs2129104026
NM_001231.5(CASQ1):c.448G>T (p.Val150Leu) rs775466623
NM_001232.4(CASQ2):c.381C>T (p.Gly127=) rs775663612
NM_001242896.3(DEPDC5):c.2516G>T (p.Gly839Val) rs1602349641
NM_001242896.3(DEPDC5):c.436dup (p.Val146fs) rs2148328679
NM_001242896.3(DEPDC5):c.779A>G (p.Gln260Arg) rs1601925119
NM_001242896.3(DEPDC5):c.947-1G>A rs2148633437
NM_001244008.2(KIF1A):c.1294C>A (p.Arg432Ser) rs763524814
NM_001244008.2(KIF1A):c.173C>T (p.Ser58Leu) rs672601362
NM_001244008.2(KIF1A):c.233G>A (p.Gly78Asp) rs1575637048
NM_001244008.2(KIF1A):c.2721GGA[9] (p.Glu916_Glu917del) rs10594016
NM_001244008.2(KIF1A):c.470T>C (p.Leu157Pro) rs1575631836
NM_001244008.2(KIF1A):c.653A>G (p.His218Arg) rs2126062571
NM_001244008.2(KIF1A):c.802G>A (p.Gly268Arg) rs1575624664
NM_001244710.2(GFPT1):c.223+6G>A rs1295165260
NM_001252024.2(TRPM1):c.2149G>C (p.Ala717Pro) rs138944426
NM_001256071.3(RNF213):c.12022G>T (p.Val4008Phe) rs762259446
NM_001256071.3(RNF213):c.12942+97del rs142169239
NM_001256071.3(RNF213):c.6169G>A (p.Asp2057Asn) rs768740459
NM_001256447.2(BCAP31):c.415C>T (p.Gln139Ter) rs1603223001
NM_001264.5(CDSN):c.1459G>A (p.Gly487Ser) rs1246486951
NM_001267550.2(TTN):c.106531+1G>A rs760915007
NM_001267550.2(TTN):c.19156C>T (p.Gln6386Ter) rs1578126437
NM_001267550.2(TTN):c.30683-3del rs368277751
NM_001267550.2(TTN):c.3304G>A (p.Gly1102Arg) rs1016142990
NM_001267550.2(TTN):c.35154dup (p.Val11719fs) rs2067087661
NM_001267550.2(TTN):c.65863+1G>A rs2154178615
NM_001267550.2(TTN):c.669+1G>A rs1574982376
NM_001267550.2(TTN):c.72503T>G (p.Leu24168Trp) rs964700696
NM_001267550.2(TTN):c.95185T>C (p.Trp31729Arg) rs869320741
NM_001270.4(CHD1):c.2983A>G (p.Ile995Val) rs2112391566
NM_001270974.2(HYDIN):c.13900-73A>G rs1770438
NM_001271.4(CHD2):c.1168A>G (p.Lys390Glu) rs1060503519
NM_001271.4(CHD2):c.190T>A (p.Ser64Thr) rs2141746050
NM_001271.4(CHD2):c.2675A>G (p.Gln892Arg) rs1596427970
NM_001271.4(CHD2):c.3187G>T (p.Glu1063Ter) rs1596436494
NM_001271.4(CHD2):c.3214C>T (p.Arg1072Ter) rs767106034
NM_001271.4(CHD2):c.3735del (p.Lys1245fs) rs752940775
NM_001271.4(CHD2):c.3735dup (p.Tyr1246fs) rs752940775
NM_001271.4(CHD2):c.4173del (p.Lys1391fs) rs749969667
NM_001271.4(CHD2):c.522del (p.Lys174_Val175insTer) rs748694853
NM_001273.5(CHD4):c.3403C>G (p.Leu1135Val) rs1592270989
NM_001273.5(CHD4):c.4610C>T (p.Ser1537Phe) rs2136202008
NM_001273.5(CHD4):c.4676C>G (p.Pro1559Arg) rs1308724810
NM_001276345.2(TNNT2):c.53-11_53-7del rs45533739
NM_001277115.2(DNAH11):c.13069C>T (p.Arg4357Ter) rs775720394
NM_001277115.2(DNAH11):c.13500_13504del (p.Glu4500fs) rs72658839
NM_001277115.2(DNAH11):c.2923G>T (p.Glu975Ter) rs776980207
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_001278116.2(L1CAM):c.2440dup (p.Ala814fs) rs1603274424
NM_001278116.2(L1CAM):c.3G>A (p.Met1Ile) rs1603277433
NM_001278293.3(ARL6):c.4G>T (p.Gly2Ter) rs771628868
NM_001278512.2(AP3B2):c.392_394del (p.Leu131del) rs1596183293
NM_001278716.2(FBXL4):c.1673G>A (p.Cys558Tyr) rs995995791
NM_001278716.2(FBXL4):c.622G>T (p.Glu208Ter) rs1582425406
NM_001282531.3(ADNP):c.-5-1G>C rs1064796656
NM_001282531.3(ADNP):c.190dup (p.Thr64fs) rs886041741
NM_001282531.3(ADNP):c.2156dup (p.Tyr719Ter) rs1135401808
NM_001282531.3(ADNP):c.2157_2159del (p.Tyr719_Glu720delinsTer) rs1600930118
NM_001282531.3(ADNP):c.232G>A (p.Ala78Thr) rs2122765289
NM_001282531.3(ADNP):c.2424_2427del (p.Lys809fs) rs2122743279
NM_001282531.3(ADNP):c.2978C>G (p.Pro993Arg) rs1251589256
NM_001282531.3(ADNP):c.422_424dup (p.Ser141dup) rs577498739
NM_001282531.3(ADNP):c.539_542del (p.Val180fs) rs1057518345
NM_001282534.2(KCNK9):c.25C>G (p.Leu9Val) rs1166889219
NM_001283009.2(RTEL1):c.2852-1G>C rs2145448526
NM_001283009.2(RTEL1):c.2992+8G>A rs1236751268
NM_001286577.2(C2CD3):c.5500G>T (p.Asp1834Tyr) rs1591315135
NM_001287.6(CLCN7):c.1562G>C (p.Gly521Ala) rs1261991162
NM_001287.6(CLCN7):c.2021G>A (p.Arg674Gln) rs758816489
NM_001287.6(CLCN7):c.2066del (p.Lys689fs) rs2142366092
NM_001287344.2(BTK):c.27G>A (p.Met9Ile) rs1352616578
NM_001288705.3(CSF1R):c.2498C>A (p.Thr833Lys) rs780804532
NM_001288705.3(CSF1R):c.2531T>C (p.Leu844Pro) rs1581279568
NM_001289104.2(PRKCSH):c.683+1G>A rs2144837651
NM_001289125.3(IFNAR2):c.541-50A>G
NM_001291088.2(WDR87):c.6889GAGGAGGAGGAGGAAAGG[1] (p.2285EEEEER[3]) rs763153590
NM_001291415.2(KDM6A):c.679G>A (p.Ala227Thr) rs2147916939
NM_001291867.2(NHS):c.719-1G>A rs1601838818
NM_001292034.3(TAB2):c.1491T>G (p.Tyr497Ter) rs1562443558
NM_001294332.1(SDHA):c.[313-449G>C;1405A>G]
NM_001297.5(CNGB1):c.1122-2A>T rs1596997875
NM_001297.5(CNGB1):c.1958-1G>A rs888090139
NM_001298.3(CNGA3):c.545A>G (p.Asn182Ser) rs2104229897
NM_001298.3(CNGA3):c.674-1G>A rs949254623
NM_001301131.2(POLR2F):c.293+19033A>T rs2145781829
NM_001301202.2(RASAL1):c.-64C>T rs1389672398
NM_001301202.2(RASAL1):c.1775G>A (p.Arg592His)
NM_001301202.2(RASAL1):c.982C>T (p.Arg328Trp) rs35505918
NM_001302746.1(FASLG):c.-187_-186GA[4] rs55853758
NM_001303052.2(MYT1L):c.1-10C>G rs2149492098
NM_001303052.2(MYT1L):c.1573C>T (p.Arg525Cys) rs2149071722
NM_001303052.2(MYT1L):c.1574G>T (p.Arg525Leu) rs753426087
NM_001303052.2(MYT1L):c.1695G>T (p.Arg565Ser) rs1573501865
NM_001303256.3(MORC2):c.2380+1G>A rs113045177
NM_001303256.3(MORC2):c.394C>T (p.Arg132Cys) rs1064795559
NM_001303256.3(MORC2):c.754C>T (p.Arg252Trp) rs864309503
NM_001303256.3(MORC2):c.79G>A (p.Glu27Lys) rs1602510200
NM_001306068.3(DUX4):c.953T>A (p.Val318Asp) rs1415001972
NM_001308093.3(GATA4):c.1000+103G>T rs113049875
NM_001312909.2(FAM111A):c.1706G>A (p.Arg569His) rs587777011
NM_001317778.2(SFTPC):c.316T>C (p.Tyr106His) rs1586421317
NM_001318852.2(MAPK8IP3):c.1665G>A (p.Met555Ile) rs1596780602
NM_001320.7(CSNK2B):c.116T>G (p.Leu39Arg) rs2151185431
NM_001320.7(CSNK2B):c.291G>A (p.Met97Ile) rs2151187334
NM_001320.7(CSNK2B):c.494A>G (p.His165Arg) rs1802026476
NM_001320.7(CSNK2B):c.560T>G (p.Leu187Arg) rs1802055133
NM_001320.7(CSNK2B):c.94G>T (p.Asp32Tyr) rs1554169984
NM_001321075.3(DLG4):c.1427T>G (p.Val476Gly) rs1048520623
NM_001321120.2(TBX4):c.3G>A (p.Met1Ile) rs868469301
NM_001322934.2(NFKB2):c.143_144+38dup rs750661181
NM_001322934.2(NFKB2):c.2146G>T (p.Asp716Tyr) rs1589870841
NM_001323289.2(CDKL5):c.1431_1435dup (p.Ser479fs) rs1602286391
NM_001323289.2(CDKL5):c.145+1G>A rs2147132274
NM_001323289.2(CDKL5):c.1548C>A (p.Tyr516Ter) rs751789670
NM_001323289.2(CDKL5):c.1691A>G (p.His564Arg) rs1602286720
NM_001323289.2(CDKL5):c.1742dup (p.His581fs) rs1602286792
NM_001323289.2(CDKL5):c.1816C>T (p.Gln606Ter) rs1602286899
NM_001323289.2(CDKL5):c.213C>G (p.Asn71Lys) rs1602269367
NM_001323289.2(CDKL5):c.2480C>G (p.Ser827Ter) rs1602298653
NM_001323289.2(CDKL5):c.2716C>T (p.Gln906Ter) rs863225289
NM_001323289.2(CDKL5):c.280A>T (p.Lys94Ter) rs2147139684
NM_001323289.2(CDKL5):c.349_352del (p.Tyr117fs) rs2147142645
NM_001323289.2(CDKL5):c.353A>G (p.Gln118Arg) rs863225290
NM_001323289.2(CDKL5):c.364G>A (p.Ala122Thr) rs1602271692
NM_001323289.2(CDKL5):c.386del (p.Asn129fs) rs1602271718
NM_001323289.2(CDKL5):c.425T>G (p.Leu142Ter) rs267608477
NM_001323289.2(CDKL5):c.530A>G (p.Tyr177Cys) rs2147145573
NM_001323289.2(CDKL5):c.602T>C (p.Leu201Pro) rs587783087
NM_001323289.2(CDKL5):c.620G>T (p.Gly207Val) rs2147148055
NM_001323289.2(CDKL5):c.65G>A (p.Gly22Glu) rs1602232972
NM_001323289.2(CDKL5):c.787C>G (p.Leu263Val) rs2147153564
NM_001323289.2(CDKL5):c.825+1dup rs1602280455
NM_001323289.2(CDKL5):c.906del (p.Leu303fs) rs2147156191
NM_001323289.2(CDKL5):c.978-1G>A rs2147160087
NM_001326342.2(CELF2):c.1353del (p.Asp451fs) rs2132555667
NM_001330260.2(SCN8A):c.1094G>A (p.Arg365His) rs1592390511
NM_001330260.2(SCN8A):c.1150G>A (p.Gly384Arg) rs2138748007
NM_001330260.2(SCN8A):c.1226T>C (p.Val409Ala) rs2138748239
NM_001330260.2(SCN8A):c.1228G>T (p.Val410Leu) rs879255699
NM_001330260.2(SCN8A):c.1979G>A (p.Gly660Asp) rs2138783318
NM_001330260.2(SCN8A):c.2300C>T (p.Thr767Ile) rs797045013
NM_001330260.2(SCN8A):c.2549G>A (p.Arg850Gln)
NM_001330260.2(SCN8A):c.2620G>A (p.Ala874Thr) rs1057524820
NM_001330260.2(SCN8A):c.2641G>C (p.Val881Leu) rs1592149771
NM_001330260.2(SCN8A):c.2675T>G (p.Val892Gly) rs863225295
NM_001330260.2(SCN8A):c.2693del (p.Gly898fs) rs2138862836
NM_001330260.2(SCN8A):c.4426G>A (p.Gly1476Ser) rs1064793263
NM_001330260.2(SCN8A):c.4492A>G (p.Lys1498Glu) rs1555228931
NM_001330260.2(SCN8A):c.4594A>T (p.Ile1532Phe) rs1555229496
NM_001330260.2(SCN8A):c.4876C>T (p.Arg1626Cys) rs2138942373
NM_001330260.2(SCN8A):c.4883T>C (p.Leu1628Ser) rs1555230928
NM_001330260.2(SCN8A):c.4937T>C (p.Met1646Thr) rs2138942542
NM_001330260.2(SCN8A):c.5279T>C (p.Met1760Thr) rs1555231012
NM_001330260.2(SCN8A):c.5614C>T (p.Arg1872Trp) rs796053228
NM_001330260.2(SCN8A):c.5630A>G (p.Asn1877Ser) rs587780455
NM_001330288.2(SMARCC2):c.914C>A (p.Pro305His) rs757238844
NM_001330311.2(DVL1):c.1637del (p.Pro546fs) rs797044839
NM_001330360.2(POLA1):c.3667C>T (p.His1223Tyr) rs896980879
NM_001330994.2(GRIK1):c.2846C>A (p.Ala949Glu) rs758995730
NM_001346810.2(DLGAP2):c.779A>C (p.Asp260Ala) rs2130517378
NM_001347721.2(DYRK1A):c.1015G>A (p.Gly339Arg) rs2053152079
NM_001347721.2(DYRK1A):c.638-1G>A rs2148612254
NM_001347721.2(DYRK1A):c.955C>A (p.Arg319=) rs113004433
NM_001348323.3(TRIP12):c.3166C>T (p.Gln1056Ter) rs1575203936
NM_001348323.3(TRIP12):c.4986T>A (p.Asp1662Glu) rs1468657712
NM_001348323.3(TRIP12):c.6034A>G (p.Thr2012Ala) rs1574632490
NM_001348716.2(KDM6B):c.2477C>A (p.Ser826Tyr) rs142934776
NM_001348716.2(KDM6B):c.3436A>G (p.Ser1146Gly) rs2151378333
NM_001348768.2(HECW2):c.4343T>G (p.Leu1448Trp) rs1575240464
NM_001348800.3(ZBTB20):c.1734T>A (p.Tyr578Ter) rs1576280941
NM_001348800.3(ZBTB20):c.1817A>G (p.His606Arg) rs1576220938
NM_001349253.2(SCN11A):c.712+1G>A rs768647693
NM_001349338.3(FOXP1):c.1240_1241del (p.Leu414fs) rs1064793130
NM_001349338.3(FOXP1):c.1287_1291dup (p.Thr431fs) rs1575806352
NM_001349338.3(FOXP1):c.1550T>G (p.Leu517Arg) rs1575757812
NM_001349338.3(FOXP1):c.1568T>C (p.Phe523Ser) rs1559602593
NM_001349338.3(FOXP1):c.1798A>G (p.Ser600Gly) rs970358469
NM_001349338.3(FOXP1):c.2018del (p.Asn673fs) rs2106854788
NM_001349338.3(FOXP1):c.490G>A (p.Ala164Thr) rs1252621833
NM_001349338.3(FOXP1):c.870-1G>C rs1576175491
NM_001349338.3(FOXP1):c.975-2A>G rs1553685707
NM_001349999.2(RBFOX2):c.1096G>A (p.Gly366Ser) rs917869422
NM_001350162.2(TEX15):c.2574_2577del (p.Thr859fs) rs565708396
NM_001351132.2(PEX5):c.1561-44_1561-43insTCTGAGTCGGTGGAGTAATGTGCAGAGTTTGA rs141721291
NM_001351132.2(PEX5):c.551+113_551+114dup rs5796268
NM_001351169.2(NT5C2):c.1403T>C (p.Leu468Pro) rs2134504868
NM_001351169.2(NT5C2):c.1624del (p.Gln542fs) rs1385107002
NM_001352514.2(HLCS):c.2144G>A (p.Trp715Ter) rs1174060268
NM_001352514.2(HLCS):c.2279T>C (p.Ile760Thr) rs2145731903
NM_001353921.2(ARHGEF9):c.178G>T (p.Glu60Ter) rs1602577529
NM_001354604.2(MITF):c.579del (p.Glu194fs) rs1576005420
NM_001354712.2(THRB):c.1192A>C (p.Ser398Arg) rs1318079339
NM_001356.5(DDX3X):c.1264_1267del (p.Val422fs) rs2147356723
NM_001356.5(DDX3X):c.136C>T (p.Arg46Ter) rs1569234653
NM_001356.5(DDX3X):c.173C>G (p.Ser58Ter) rs1602126980
NM_001356.5(DDX3X):c.269dup (p.Ser90fs) rs1602127262
NM_001356.5(DDX3X):c.744C>T (p.Gly248=) rs1569238002
NM_001356.5(DDX3X):c.99_102dup (p.Lys35fs) rs1602119305
NM_001358263.1(HK1):c.-270G>C rs397514654
NM_001358263.1(HK1):c.1A>G (p.Met1Val) rs1589439508
NM_001358263.1(HK1):c.1A>T (p.Met1Leu) rs1589439508
NM_001360.3(DHCR7):c.197G>A (p.Cys66Tyr) rs2120355008
NM_001360016.2(G6PD):c.1143C>G (p.Phe381Leu) rs2148328905
NM_001360016.2(G6PD):c.1192G>A (p.Glu398Lys) rs137852325
NM_001360016.2(G6PD):c.1378G>T (p.Glu460Ter) rs1603411214
NM_001363118.2(SLC52A2):c.353C>A (p.Ala118Asp) rs117500243
NM_001363711.2(DUOX2):c.2895_2898del (p.Phe966fs) rs530719719
NM_001364905.1(LRBA):c.1291T>C (p.Cys431Arg) rs778235929
NM_001364905.1(LRBA):c.6709del (p.Trp2237fs) rs1581401865
NM_001365276.2(TNXB):c.12224G>A (p.Arg4075His) rs201510617
NM_001365536.1(SCN9A):c.1975-3dup rs35888674
NM_001365536.1(SCN9A):c.3204del (p.Lys1068fs) rs1574843584
NM_001365536.1(SCN9A):c.3452dup (p.Glu1152fs) rs2106426285
NM_001365536.1(SCN9A):c.4424_4427del (p.Thr1475fs) rs1574706911
NM_001365902.3(NFIX):c.154G>T (p.Glu52Ter) rs1555696499
NM_001365902.3(NFIX):c.163del (p.Ala55fs) rs2145191618
NM_001365902.3(NFIX):c.28-891dup rs113861190
NM_001365902.3(NFIX):c.327_340del (p.Gln110fs) rs1599738349
NM_001365902.3(NFIX):c.568C>T (p.Gln190Ter) rs387907253
NM_001365902.3(NFIX):c.799_812del (p.Thr267fs) rs1599844887
NM_001365951.3(KIF1B):c.1130C>T (p.Thr377Ile) rs1372224953
NM_001365951.3(KIF1B):c.246del (p.Leu83fs) rs2102186706
NM_001365951.3(KIF1B):c.3430C>T (p.His1144Tyr) rs1230762716
NM_001365951.3(KIF1B):c.363+9C>A rs1569599409
NM_001366110.1(PAX4):c.1022G>A (p.Trp341Ter) rs2233584
NM_001367534.1(CAMK2G):c.1735T>A (p.Cys579Ser) rs2133013133
NM_001367534.1(CAMK2G):c.449G>A (p.Gly150Asp) rs2134881710
NM_001367561.1(DOCK7):c.1333C>T (p.Arg445Ter) rs758111714
NM_001367561.1(DOCK7):c.280C>T (p.Arg94Trp) rs1657688175
NM_001367561.1(DOCK7):c.5463dup (p.Gln1822fs) rs1571266478
NM_001367721.1(CASK):c.1258C>T (p.Pro420Ser) rs2065666644
NM_001367721.1(CASK):c.1385_1394del (p.Pro462fs) rs1602292205
NM_001367721.1(CASK):c.1465C>T (p.Arg489Trp) rs1114167352
NM_001367721.1(CASK):c.1504-6T>A rs767346232
NM_001367721.1(CASK):c.1609C>T (p.Arg537Ter) rs1555981717
NM_001367721.1(CASK):c.1976G>A (p.Gly659Asp) rs727505397
NM_001367721.1(CASK):c.2429G>A (p.Ser810Asn) rs1602220170
NM_001367721.1(CASK):c.2569A>G (p.Ile857Val) rs2147067640
NM_001367721.1(CASK):c.764G>A (p.Arg255His) rs587783369
NM_001367721.1(CASK):c.774_780del (p.Met258fs) rs1602424869
NM_001367721.1(CASK):c.787G>A (p.Glu263Lys) rs1602424843
NM_001367721.1(CASK):c.82C>T (p.Arg28Ter) rs587783370
NM_001368067.1(LDB3):c.494C>T (p.Ala165Val) rs121908334
NM_001368894.2(PAX6):c.*21del (p.Ter437=) rs759391101
NM_001368894.2(PAX6):c.1074+3A>G rs1592409561
NM_001368894.2(PAX6):c.1303_1309del (p.Leu435fs) rs757946805
NM_001368894.2(PAX6):c.1309del (p.Ter437LysextTer?) rs1160348364
NM_001369.3(DNAH5):c.1896G>T (p.Gln632His) rs746476934
NM_001369.3(DNAH5):c.4053+1G>A rs1060501466
NM_001369268.1(ACAN):c.2541del (p.Val848fs) rs1596144242
NM_001369268.1(ACAN):c.4474del (p.Ser1492fs) rs2141606910
NM_001369268.1(ACAN):c.7255G>A (p.Asp2419Asn) rs121913568
NM_001369268.1(ACAN):c.7279C>T (p.Arg2427Cys) rs1326557887
NM_001370100.5(ZMYND11):c.986C>T (p.Thr329Ile) rs2131924430
NM_001370259.2(MEN1):c.-23-1G>A rs2136197853
NM_001370259.2(MEN1):c.-7_-1dup (p.Met1fs) rs758960344
NM_001370259.2(MEN1):c.1117C>T (p.Pro373Ser) rs794728627
NM_001370259.2(MEN1):c.1406A>C (p.Glu469Ala) rs1565638407
NM_001370259.2(MEN1):c.1543C>T (p.Pro515Ser) rs779466487
NM_001370259.2(MEN1):c.1637C>T (p.Pro546Leu) rs779413959
NM_001370259.2(MEN1):c.1664G>A (p.Ser555Asn) rs863224527
NM_001370259.2(MEN1):c.203C>T (p.Ala68Val) rs1319371332
NM_001370259.2(MEN1):c.236C>G (p.Pro79Arg) rs1555166557
NM_001370259.2(MEN1):c.312_315dup (p.Tyr106fs) rs1592658517
NM_001370259.2(MEN1):c.343C>G (p.Arg115Gly) rs1565651402
NM_001370259.2(MEN1):c.409C>T (p.Arg137Trp) rs1208267598
NM_001370259.2(MEN1):c.654+1G>T rs794728622
NM_001370259.2(MEN1):c.655-6C>A rs77461664
NM_001370259.2(MEN1):c.655-6C>G rs77461664
NM_001370259.2(MEN1):c.784-9G>A rs794728625
NM_001370466.1(NOD2):c.2641G>C (p.Gly881Arg) rs2066845
NM_001370658.1(BTD):c.1465C>T (p.Pro489Ser) rs1344607767
NM_001370658.1(BTD):c.203del (p.Gln68fs) rs1575013953
NM_001370658.1(BTD):c.304A>G (p.Arg102Gly) rs397514354
NM_001370658.1(BTD):c.44_45del (p.Cys15fs) rs750965140
NM_001370658.1(BTD):c.496T>G (p.Cys166Gly) rs955385869
NM_001370658.1(BTD):c.705C>G (p.Ile235Met) rs1575029719
NM_001370658.1(BTD):c.798del (p.Ala267fs) rs1575029897
NM_001371279.1(REEP1):c.298G>A (p.Glu100Lys) rs2104243924
NM_001371279.1(REEP1):c.374del (p.Gly125fs) rs2104224215
NM_001371596.2(MFSD8):c.1066C>A (p.Pro356Thr) rs756204684
NM_001371596.2(MFSD8):c.1124del (p.Pro375fs) rs1578794927
NM_001371596.2(MFSD8):c.1213C>T (p.Gln405Ter) rs778875017
NM_001371596.2(MFSD8):c.1420C>T (p.Gln474Ter) rs370663969
NM_001371596.2(MFSD8):c.199-2A>G rs1578912759
NM_001371596.2(MFSD8):c.362_363del (p.Tyr121fs) rs2148922004
NM_001371596.2(MFSD8):c.415C>T (p.Arg139Cys) rs993001712
NM_001371596.2(MFSD8):c.63-1G>A rs1314967038
NM_001371623.1(TCOF1):c.3047-1G>A rs2151009927
NM_001371623.1(TCOF1):c.4064del (p.Pro1355fs) rs1581224630
NM_001371623.1(TCOF1):c.4087AAG[4] (p.Lys1367del) rs773205979
NM_001371623.1(TCOF1):c.630_631insCTG (p.Thr210_Asp211insLeu) rs1581075276
NM_001371623.1(TCOF1):c.633_634del (p.Val212fs) rs1581075356
NM_001371727.1(GABRB2):c.1168A>C (p.Asn390His) rs1026621473
NM_001371727.1(GABRB2):c.245C>A (p.Thr82Asn) rs1561658011
NM_001371727.1(GABRB2):c.877C>T (p.Arg293Trp) rs1554093891
NM_001371904.1(APOA5):c.1028G>A (p.Arg343His) rs1591312418
NM_001371904.1(APOA5):c.212T>C (p.Leu71Pro) rs2134203761
NM_001371904.1(APOA5):c.607G>T (p.Gly203Trp) rs778493133
NM_001371904.1(APOA5):c.990_993del (p.Asp332fs) rs774150500
NM_001371928.1(AHDC1):c.1122dup (p.Gly375fs) rs749294057
NM_001371928.1(AHDC1):c.2191_2194del (p.Val731fs) rs1571236369
NM_001371928.1(AHDC1):c.2719del (p.Ala907fs) rs2148275240
NM_001371928.1(AHDC1):c.3254CCT[6] (p.Ser1091del) rs530256606
NM_001371928.1(AHDC1):c.4679A>T (p.Gln1560Leu) rs1571224398
NM_001371986.1(UNC80):c.1936C>T (p.His646Tyr) rs1467598370
NM_001371986.1(UNC80):c.3853C>T (p.Arg1285Ter) rs1574855486
NM_001371986.1(UNC80):c.5618G>A (p.Arg1873His) rs1051195562
NM_001371986.1(UNC80):c.6726G>A (p.Met2242Ile) rs949032362
NM_001372044.2(SHANK3):c.3151C>T (p.Pro1051Ser) rs2146830003
NM_001372044.2(SHANK3):c.494+2T>G rs1603445997
NM_001372051.1(CASP8):c.803-2881_803-2880insATCTATCAATGTTATGCCCACTGTGCTCTCCAGCTGTGGTCTG rs1559369386
NM_001372066.1(TFAP2A):c.493G>C (p.Glu165Gln) rs1581265556
NM_001372078.1(REV3L):c.35A>G (p.Tyr12Cys) rs1174220169
NM_001374353.1(GLI2):c.3625C>T (p.Arg1209Ter) rs1683184865
NM_001374385.1(ATP8B1):c.173del (p.Phe58fs) rs1599166106
NM_001374385.1(ATP8B1):c.3015+1G>T rs1599069873
NM_001374385.1(ATP8B1):c.3394T>G (p.Phe1132Val) rs1599066459
NM_001374385.1(ATP8B1):c.3702dup (p.Asp1235Ter) rs2122524814
NM_001374828.1(ARID1B):c.1451dup (p.Phe485fs) rs1554248082
NM_001374828.1(ARID1B):c.2248-2A>G rs2128462015
NM_001374828.1(ARID1B):c.2440G>T (p.Val814Leu) rs765365713
NM_001374828.1(ARID1B):c.4263del (p.Gly1422fs) rs1583491381
NM_001374828.1(ARID1B):c.4299C>A (p.Tyr1433Ter) rs1583491515
NM_001374828.1(ARID1B):c.4479G>A (p.Pro1493=) rs797045277
NM_001374828.1(ARID1B):c.5263+1G>T rs2128377544
NM_001374828.1(ARID1B):c.5365del (p.Ser1789fs) rs2128385522
NM_001374828.1(ARID1B):c.5652C>G (p.Ser1884Arg) rs1195428885
NM_001374828.1(ARID1B):c.591GCA[9] (p.Gln213_Gln214dup) rs587779743
NM_001374828.1(ARID1B):c.6793G>A (p.Asp2265Asn) rs2128398514
NM_001374828.1(ARID1B):c.6896del (p.Gln2299fs) rs1583518354
NM_001375380.1(EBF3):c.1128+1G>C rs797046136
NM_001375380.1(EBF3):c.1373-11del rs68001511
NM_001375380.1(EBF3):c.188G>A (p.Arg63Gln) rs2134659487
NM_001375380.1(EBF3):c.422A>G (p.Tyr141Cys) rs1057519519
NM_001375380.1(EBF3):c.574_576del (p.Leu192del) rs2134129924
NM_001375405.1(CEP120):c.1558C>T (p.Gln520Ter) rs2127059805
NM_001375524.1(TRRAP):c.3199C>T (p.Gln1067Ter) rs2116509105
NM_001375765.1(GIGYF1):c.2498dup (p.Gly834fs) rs776212530
NM_001375765.1(GIGYF1):c.407G>A (p.Arg136Lys) rs886069639
NM_001376.5(DYNC1H1):c.10745G>T (p.Arg3582Leu) rs866994746
NM_001376.5(DYNC1H1):c.11824C>T (p.Pro3942Ser) rs1006593304
NM_001376.5(DYNC1H1):c.295A>G (p.Ile99Val) rs1595595758
NM_001376.5(DYNC1H1):c.3157-2A>T rs2141280750
NM_001376.5(DYNC1H1):c.3395G>A (p.Gly1132Glu) rs2141280974
NM_001376.5(DYNC1H1):c.3603G>T (p.Arg1201Ser) rs727505393
NM_001376.5(DYNC1H1):c.3961-2A>G rs1595608413
NM_001376.5(DYNC1H1):c.752G>A (p.Arg251His) rs794727634
NM_001376.5(DYNC1H1):c.7705G>A (p.Val2569Met) rs368463825
NM_001376.5(DYNC1H1):c.791G>C (p.Arg264Pro) rs713993043
NM_001376.5(DYNC1H1):c.7979T>G (p.Val2660Gly) rs201272954
NM_001376.5(DYNC1H1):c.8390G>A (p.Arg2797His) rs2152584603
NM_001376.5(DYNC1H1):c.944G>A (p.Ser315Asn) rs1595597963
NM_001376.5(DYNC1H1):c.9790C>A (p.Leu3264Met) rs373682811
NM_001377.3(DYNC2H1):c.12457-1G>C rs2135805319
NM_001377.3(DYNC2H1):c.5559-1G>C rs2134979684
NM_001377.3(DYNC2H1):c.8015A>G (p.His2672Arg) rs2135079690
NM_001377.3(DYNC2H1):c.8885AAG[1] (p.Glu2963del) rs770387587
NM_001377265.1(MAPT):c.1834A>C (p.Thr612Pro) rs1598326279
NM_001377265.1(MAPT):c.1972C>G (p.Leu658Val) rs63750349
NM_001377265.1(MAPT):c.2064T>C (p.Asn688=) rs63750912
NM_001377265.1(MAPT):c.2091T>C (p.Ser697=) rs63750568
NM_001378120.1(MBD5):c.1058C>G (p.Ser353Cys) rs1448983984
NM_001378120.1(MBD5):c.114-3C>T rs2105571139
NM_001378120.1(MBD5):c.1472G>C (p.Arg491Thr) rs1024254683
NM_001378120.1(MBD5):c.2127T>A (p.Ser709Arg) rs763873615
NM_001378120.1(MBD5):c.2548A>G (p.Ile850Val) rs1574476665
NM_001378120.1(MBD5):c.2605G>A (p.Val869Ile) rs116207524
NM_001378120.1(MBD5):c.4540G>C (p.Glu1514Gln) rs1296916399
NM_001378120.1(MBD5):c.644G>A (p.Arg215His) rs771325235
NM_001378183.1(PIEZO2):c.1924G>T (p.Glu642Ter) rs1598482405
NM_001378183.1(PIEZO2):c.2372T>A (p.Ile791Lys) rs2144117079
NM_001378183.1(PIEZO2):c.2724_2734del (p.Ser908fs) rs2144002337
NM_001378183.1(PIEZO2):c.3487C>T (p.Arg1163Ter) rs1203151992
NM_001378183.1(PIEZO2):c.5079dup (p.Asp1694fs) rs2143913299
NM_001378414.1(HDAC4):c.2863G>C (p.Ala955Pro) rs753247137
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_001378418.1(TCF20):c.3300G>T (p.Trp1100Cys) rs2147206303
NM_001378418.1(TCF20):c.4988dup (p.Arg1664fs) rs2147197034
NM_001378452.1(ITPR1):c.4407+44GT[18] rs35795762
NM_001378452.1(ITPR1):c.6206A>G (p.Asn2069Ser) rs1360324926
NM_001378452.1(ITPR1):c.800C>G (p.Thr267Arg) rs797044955
NM_001378454.1(ALMS1):c.11668+1G>T rs1181992959
NM_001378454.1(ALMS1):c.1433-64dup rs66492706
NM_001378454.1(ALMS1):c.1571CTC[1] (p.Pro525del) rs34628045
NM_001378454.1(ALMS1):c.1727C>G (p.Ser576Ter) rs756389027
NM_001378454.1(ALMS1):c.7450A>T (p.Lys2484Ter) rs2103794046
NM_001378454.1(ALMS1):c.9191T>G (p.Leu3064Ter) rs1434010689
NM_001378454.1(ALMS1):c.9251del (p.Asn3084fs) rs1572970628
NM_001378615.1(CC2D2A):c.676GAA[3] (p.Glu229del) rs386833764
NM_001378964.1(CDON):c.3395C>T (p.Pro1132Leu) rs754025360
NM_001378969.1(KCND3):c.1381G>A (p.Glu461Lys) rs2101469480
NM_001379029.1(CERT1):c.-199CCT[1] rs1279678355
NM_001379029.1(CERT1):c.349-3dup rs540751366
NM_001379110.1(SLC9A6):c.1080+80dup rs35492327
NM_001379110.1(SLC9A6):c.691CTT[1] (p.Leu232del) rs1603201557
NM_001379200.1(TBX1):c.1158_1159del (p.Gly387fs) rs2145838391
NM_001379270.1(CNGA1):c.546-1G>C rs1037963003
NM_001379291.1(BRD4):c.231_233del (p.His77del) rs1599473950
NM_001379291.1(BRD4):c.4020+1G>A rs2145497734
NM_001379403.1(WDR26):c.1694G>T (p.Gly565Val) rs1572168244
NM_001379403.1(WDR26):c.1974_1975del (p.Arg658fs) rs1572163072
NM_001379403.1(WDR26):c.365del (p.Gly122fs) rs2102930721
NM_001379403.1(WDR26):c.492dup (p.Ser165fs) rs2102930403
NM_001379403.1(WDR26):c.773_776del (p.Pro258fs) rs2102926443
NM_001379451.1(BCORL1):c.2319_2340del (p.Gly774fs) rs2124449842
NM_001379500.1(COL18A1):c.2157+79dup rs148502711
NM_001379500.1(COL18A1):c.2829CCCAGGCCC[1] (p.938PGP[3]) rs78227997
NM_001379500.1(COL18A1):c.2829_2846del (p.938PGP[2]) rs78227997
NM_001382.4(DPAGT1):c.1036C>G (p.His346Asp) rs1592225374
NM_001382.4(DPAGT1):c.574G>C (p.Gly192Arg) rs768464558
NM_001382.4(DPAGT1):c.643+1G>A rs2134910617
NM_001382347.1(MYO5A):c.1543-84del rs71425744
NM_001382430.1(AKT1):c.1364-3C>T rs113777945
NM_001382430.1(AKT1):c.176-5C>A rs377076374
NM_001382430.1(AKT1):c.356A>G (p.Asp119Gly) rs1566818099
NM_001382430.1(AKT1):c.968A>G (p.Asp323Gly) rs2140903030
NM_001382567.1(STIM1):c.692A>G (p.Tyr231Cys) rs765230033
NM_001384140.1(PCDH15):c.1441-1G>T rs2133801703
NM_001384140.1(PCDH15):c.1863T>G (p.Tyr621Ter) rs1590691343
NM_001384140.1(PCDH15):c.2645_2646del (p.Asp881_Tyr882insTer) rs1589950125
NM_001384732.1(CPLANE1):c.1394del (p.Leu465fs) rs1280425167
NM_001384732.1(CPLANE1):c.1819del (p.Tyr607fs) rs777686211
NM_001384732.1(CPLANE1):c.2898del (p.Pro968fs) rs1305821156
NM_001384732.1(CPLANE1):c.3290-2A>G rs606231260
NM_001384732.1(CPLANE1):c.586T>C (p.Cys196Arg) rs2150766539
NM_001384910.1(GUCA1A):c.359G>T (p.Arg120Leu) rs1582323732
NM_001384910.1(GUCA1A):c.465G>C (p.Glu155Asp) rs2113838890
NM_001385012.1(NBEA):c.5648+1G>A rs2073745817
NM_001386298.1(CIC):c.4594G>T (p.Gly1532Ter) rs747706524
NM_001386298.1(CIC):c.7506dup (p.Pro2503fs) rs1422380205
NM_001386298.1(CIC):c.7510del (p.Ser2504fs) rs1954236050
NM_001386393.1(PANK2):c.1151T>C (p.Leu384Ser) rs111863748
NM_001386393.1(PANK2):c.1207-3C>G rs370766524
NM_001386393.1(PANK2):c.175_182del (p.Ser59fs) rs755653150
NM_001386393.1(PANK2):c.240_241del (p.Tyr80_Ser81delinsTer) rs1600477446
NM_001386393.1(PANK2):c.740G>C (p.Arg247Pro) rs754521581
NM_001388308.1(KIF12):c.1024G>A (p.Val342Met) rs564811653
NM_001388419.1(KALRN):c.1624G>A (p.Val542Ile) rs1056310843
NM_001394062.1(MACF1):c.12265C>T (p.Gln4089Ter) rs2148518682
NM_001394062.1(MACF1):c.20222A>T (p.Asp6741Val) rs2148674816
NM_001394062.1(MACF1):c.22295C>T (p.Ser7432Leu) rs2124264676
NM_001394372.1(BICRA):c.1381C>A (p.Pro461Thr) rs2123587132
NM_001394372.1(BICRA):c.3248+1G>A rs1490477251
NM_001394372.1(BICRA):c.4367C>T (p.Ala1456Val) rs963884506
NM_001394531.1(WDFY4):c.3098+4T>G rs2066052443
NM_001394531.1(WDFY4):c.835C>T (p.Leu279Phe) rs2132315078
NM_001395058.1(MYO15B):c.8156+19C>G
NM_001395413.1(POR):c.1405G>C (p.Val469Leu) rs72557946
NM_001399.5(EDA):c.1142G>A (p.Gly381Glu) rs1602625000
NM_001399.5(EDA):c.961G>A (p.Glu321Lys) rs397516682
NM_001429.4(EP300):c.3143-1G>T rs1230152737
NM_001429.4(EP300):c.3573T>A (p.Tyr1191Ter) rs565779970
NM_001429.4(EP300):c.3624C>G (p.Ile1208Met) rs143660871
NM_001429.4(EP300):c.3707dup (p.Asn1236fs) rs1601628237
NM_001429.4(EP300):c.3749G>A (p.Cys1250Tyr) rs1601629319
NM_001429.4(EP300):c.3875-2A>C rs2145762711
NM_001429.4(EP300):c.4692dup (p.Arg1565Ter) rs1601636935
NM_001429.4(EP300):c.4783T>A (p.Phe1595Ile) rs1057517732
NM_001429.4(EP300):c.5633C>A (p.Thr1878Asn) rs1484157418
NM_001429.4(EP300):c.5832C>G (p.His1944Gln) rs142885571
NM_001429.4(EP300):c.6798_6800del (p.Gln2268del) rs533875300
NM_001429.4(EP300):c.6954_6965del (p.Gln2319_Pro2322del) rs2145523070
NM_001429.4(EP300):c.7014_7028del (p.His2338_Pro2342del) rs1601642386
NM_001453.3(FOXC1):c.-429C>G rs77888940
NM_001453.3(FOXC1):c.398_401del (p.Asn133fs) rs2113111662
NM_001457.4(FLNB):c.3263C>A (p.Ser1088Tyr) rs2107175027
NM_001457.4(FLNB):c.4625T>C (p.Ile1542Thr) rs1356745912
NM_001457.4(FLNB):c.4807C>T (p.Pro1603Ser) rs2107224894
NM_001458.5(FLNC):c.113A>T (p.Gln38Leu) rs1585147708
NM_001458.5(FLNC):c.3557C>T (p.Ala1186Val) rs1114167361
NM_001458.5(FLNC):c.6301T>C (p.Cys2101Arg) rs1808915510
NM_001458.5(FLNC):c.710C>T (p.Pro237Leu) rs1585152751
NM_001466.4(FZD2):c.1644G>A (p.Trp548Ter) rs1568105666
NM_001470.4(GABBR1):c.208dup (p.Glu70fs) rs1231267820
NM_001470.4(GABBR1):c.2830G>A (p.Glu944Lys) rs1243106351
NM_001478.5(B4GALNT1):c.*1325G>A rs151077423
NM_001493.3(GDI1):c.491A>C (p.Gln164Pro) rs1032352955
NM_001497.4(B4GALT1):c.5G>C (p.Arg2Thr) rs1587756000
NM_001540.5(HSPB1):c.438dup (p.Gly147fs) rs747325717
NM_001556.3(IKBKB):c.2023A>G (p.Ser675Gly) rs1386860765
NM_001558.4(IL10RA):c.787C>T (p.Arg263Ter) rs1192830343
NM_001567.4(INPPL1):c.94_121del (p.Glu32fs) rs797044470
NM_001605.3(AARS1):c.2192C>G (p.Ser731Trp) rs150873930
NM_001605.3(AARS1):c.977G>C (p.Arg326Pro) rs2152160758
NM_001609.4(ACADSB):c.1128+20_1128+26dup rs10571424
NM_001611.5(ACP5):c.625_626del (p.Trp209fs) rs1599634435
NM_001613.4(ACTA2):c.937G>A (p.Asp313Asn) rs201981018
NM_001614.5(ACTG1):c.434C>T (p.Ser145Phe) rs2143779274
NM_001614.5(ACTG1):c.542C>T (p.Ala181Val) rs797044730
NM_001614.5(ACTG1):c.608C>T (p.Thr203Met) rs281875327
NM_001626.6(AKT2):c.984C>G (p.Gly328=) rs970521940
NM_001655.5(ARCN1):c.934C>T (p.Arg312Ter) rs1565363889
NM_001658.4(ARF1):c.509T>A (p.Leu170Gln) rs2124858573
NM_001673.5(ASNS):c.883G>A (p.Asp295Asn) rs781581679
NM_001693.4(ATP6V1B2):c.1465A>T (p.Lys489Ter) rs1585256207
NM_001709.5(BDNF):c.5C>T (p.Thr2Ile) rs8192466
NM_001715.3(BLK):c.1471del (p.Glu491fs) rs1436601574
NM_001715.3(BLK):c.391C>T (p.Arg131Trp) rs73663163
NM_001753.5(CAV1):c.368_369del (p.Ser123fs) rs2116116365
NM_001776.6(ENTPD1):c.574-6_574-3del rs1412393736
NM_001776.6(ENTPD1):c.770_771del (p.Gly257fs) rs1590126497
NM_001792.5(CDH2):c.1344+1G>A rs2143975765
NM_001843.4(CNTN1):c.1805-9354del rs544761896
NM_001844.5(COL2A1):c.1420-2A>G rs794727377
NM_001844.5(COL2A1):c.1484G>A (p.Gly495Glu) rs2136571080
NM_001844.5(COL2A1):c.1492G>C (p.Gly498Arg) rs2136571005
NM_001844.5(COL2A1):c.1646G>A (p.Gly549Asp) rs2136567807
NM_001844.5(COL2A1):c.1649G>T (p.Arg550Leu) rs186233557
NM_001844.5(COL2A1):c.1658_1675del (p.Glu553_Gly558del) rs2136567630
NM_001844.5(COL2A1):c.1969G>A (p.Gly657Ser) rs1269619781
NM_001844.5(COL2A1):c.1996-9G>A rs2136555221
NM_001844.5(COL2A1):c.2101C>T (p.Arg701Ter) rs1555166555
NM_001844.5(COL2A1):c.2519G>A (p.Gly840Asp) rs2136538046
NM_001844.5(COL2A1):c.2596C>T (p.Gln866Ter) rs1592206729
NM_001844.5(COL2A1):c.2609G>A (p.Gly870Glu) rs886041429
NM_001844.5(COL2A1):c.2617G>T (p.Gly873Trp) rs886041713
NM_001844.5(COL2A1):c.2679+1G>A rs1592205758
NM_001844.5(COL2A1):c.2679+69dup rs11443755
NM_001844.5(COL2A1):c.2833G>A (p.Gly945Ser) rs886039542
NM_001844.5(COL2A1):c.3013G>A (p.Gly1005Ser) rs753342774
NM_001844.5(COL2A1):c.3106C>T (p.Arg1036Ter) rs748459670
NM_001844.5(COL2A1):c.3311G>A (p.Gly1104Glu) rs886043356
NM_001844.5(COL2A1):c.3455G>A (p.Gly1152Asp) rs2136516779
NM_001844.5(COL2A1):c.3490G>A (p.Gly1164Ser) rs2136514646
NM_001844.5(COL2A1):c.3589G>A (p.Gly1197Ser) rs121912870
NM_001844.5(COL2A1):c.4171T>C (p.Tyr1391His) rs2136505595
NM_001844.5(COL2A1):c.737G>T (p.Gly246Val) rs2136616311
NM_001844.5(COL2A1):c.823C>T (p.Arg275Cys) rs121912876
NM_001845.6(COL4A1):c.1834G>C (p.Gly612Arg) rs1594560766
NM_001845.6(COL4A1):c.2086G>A (p.Gly696Ser) rs587780588
NM_001845.6(COL4A1):c.2263G>A (p.Gly755Arg) rs672601346
NM_001845.6(COL4A1):c.4250-2A>C rs2139146303
NM_001845.6(COL4A1):c.4546C>T (p.Arg1516Ter) rs1594535661
NM_001846.4(COL4A2):c.3126del (p.Gly1043fs) rs1268038830
NM_001846.4(COL4A2):c.3346+1G>A rs2139534321
NM_001846.4(COL4A2):c.726+4A>G rs2139462568
NM_001848.3(COL6A1):c.1575+1G>A rs1002726737
NM_001848.3(COL6A1):c.56_69dup (p.Glu24fs) rs1603589162
NM_001848.3(COL6A1):c.869G>A (p.Gly290Glu) rs1603590637
NM_001849.4(COL6A2):c.1053+2T>C rs2123631474
NM_001849.4(COL6A2):c.1096C>T (p.Arg366Ter) rs387906609
NM_001849.4(COL6A2):c.1817-3dup rs149954350
NM_001849.4(COL6A2):c.1976G>C (p.Arg659Pro) rs558005986
NM_001849.4(COL6A2):c.2192C>T (p.Thr731Met) rs794727419
NM_001849.4(COL6A2):c.901G>T (p.Gly301Cys) rs886042705
NM_001851.6(COL9A1):c.913-5C>G rs763816689
NM_001852.4(COL9A2):c.239C>A (p.Pro80His) rs2124101224
NM_001853.4(COL9A3):c.104G>A (p.Gly35Asp) rs1390736361
NM_001853.4(COL9A3):c.889A>C (p.Ser297Arg) rs2063567563
NM_001854.4(COL11A1):c.3168+2_3168+12del rs1570877567
NM_001854.4(COL11A1):c.3365C>A (p.Pro1122His) rs2101304072
NM_001854.4(COL11A1):c.3978+1G>A rs1570712889
NM_001854.4(COL11A1):c.560C>T (p.Thr187Met) rs184606223
NM_001875.5(CPS1):c.1207del (p.Ala403fs) rs1574566578
NM_001875.5(CPS1):c.1291G>A (p.Gly431Arg) rs778766382
NM_001875.5(CPS1):c.1329C>G (p.Tyr443Ter) rs1574567901
NM_001875.5(CPS1):c.2548C>G (p.Arg850Gly) rs1015051007
NM_001875.5(CPS1):c.3125A>C (p.Asp1042Ala) rs1574632659
NM_001875.5(CPS1):c.345_351del (p.Gly116fs) rs2106079710
NM_001875.5(CPS1):c.3517G>C (p.Ala1173Pro) rs1574646079
NM_001875.5(CPS1):c.3666+77dup rs61108700
NM_001875.5(CPS1):c.4275-2A>C rs2105945930
NM_001876.4(CPT1A):c.2259_2261dup (p.Leu754dup) rs1594313040
NM_001903.5(CTNNA1):c.1063-8T>G rs1581473850
NM_001903.5(CTNNA1):c.1389+10A>T rs1051113761
NM_001904.4(CTNNB1):c.1041_1044del (p.Val349fs) rs1575320216
NM_001904.4(CTNNB1):c.1081+1G>T rs2078201673
NM_001904.4(CTNNB1):c.1494dup (p.His499fs) rs1553631896
NM_001904.4(CTNNB1):c.1530dup (p.Val511fs) rs1575330336
NM_001904.4(CTNNB1):c.735-1G>C rs2125623951
NM_001904.4(CTNNB1):c.999C>A (p.Tyr333Ter) rs778624338
NM_001908.5(CTSB):c.615del (p.Lys206fs) rs1563388045
NM_001918.5(DBT):c.1082dup (p.Asn361fs) rs1570806631
NM_001918.5(DBT):c.442G>T (p.Glu148Ter) rs1570820579
NM_001927.4(DES):c.1091_1108del (p.Gln364_Arg369del) rs1575014889
NM_001927.4(DES):c.639+4_639+5del rs730880289
NM_001927.4(DES):c.897+4_897+5del rs397516699
NM_001931.5(DLAT):c.1474C>G (p.Pro492Ala) rs1374987167
NM_001931.5(DLAT):c.788-5T>A rs2137753067
NM_001933.5(DLST):c.1081A>G (p.Ile361Val) rs201053671
NM_001940.4(ATN1):c.3182TGCACC[3] (p.1061LH[3]) rs2138219961
NM_001943.5(DSG2):c.3059_3062del (p.Glu1020fs) rs397516706
NM_001953.4(TYMP):c.929-6_929-3del rs201685922
NM_001957.4(EDNRA):c.1259G>C (p.Ser420Thr) rs200945454
NM_001957.4(EDNRA):c.743T>C (p.Met248Thr) rs2126474873
NM_001958.5(EEF1A2):c.1030-1G>A rs2145938874
NM_001961.4(EEF2):c.981C>A (p.Asp327Glu) rs762204921
NM_001972.4(ELANE):c.169G>A (p.Ala57Thr) rs2145144144
NM_001972.4(ELANE):c.300dup (p.Val101fs) rs2145145158
NM_001972.4(ELANE):c.366+7C>T rs1258334813
NM_001972.4(ELANE):c.377C>T (p.Ser126Leu) rs137854450
NM_001972.4(ELANE):c.52G>C (p.Ala18Pro) rs797045007
NM_001972.4(ELANE):c.561C>A (p.Cys187Ter) rs797045009
NM_001972.4(ELANE):c.618G>C (p.Leu206Phe) rs137854446
NM_001972.4(ELANE):c.669C>A (p.Cys223Ter) rs1599294750
NM_001987.5(ETV6):c.518C>T (p.Pro173Leu) rs1428361713
NM_001999.4(FBN2):c.1789A>C (p.Ser597Arg) rs1033872078
NM_001999.4(FBN2):c.4118T>C (p.Ile1373Thr) rs971727405
NM_001999.4(FBN2):c.8470G>T (p.Ala2824Ser) rs868262960
NM_002016.2(FLG):c.1501C>T (p.Arg501Ter) rs61816761
NM_002016.2(FLG):c.2282_2285del (p.Ser761fs) rs558269137
NM_002016.2(FLG):c.2976_2977del (p.Arg992fs) rs776968118
NM_002016.2(FLG):c.3222_3225del (p.Ser1074fs) rs745915174
NM_002016.2(FLG):c.4785_4788del (p.Ser1595fs) rs761519693
NM_002016.2(FLG):c.6950_6957del (p.Ala2316_Ser2317insTer) rs578184315
NM_002016.2(FLG):c.7339C>T (p.Arg2447Ter) rs138726443
NM_002016.2(FLG):c.7945del (p.Ser2649fs) rs538406713
NM_002025.4(AFF2):c.-458CGC[6] rs193922937
NM_002047.4(GARS1):c.1002C>G (p.Ile334Met) rs1303447354
NM_002047.4(GARS1):c.1186G>A (p.Val396Ile) rs1060502836
NM_002047.4(GARS1):c.647A>G (p.His216Arg) rs768987322
NM_002049.4(GATA1):c.231_232dup (p.Tyr78fs) rs2147306077
NM_002055.5(GFAP):c.1087A>G (p.Ile363Val) rs2145632673
NM_002055.5(GFAP):c.1235C>T (p.Thr412Ile) rs1597853099
NM_002055.5(GFAP):c.208C>T (p.Arg70Trp) rs60343255
NM_002055.5(GFAP):c.218T>C (p.Met73Thr) rs61060395
NM_002067.5(GNA11):c.476+1G>C rs138878739
NM_002069.6(GNAI1):c.118G>T (p.Gly40Cys) rs2116052322
NM_002087.4(GRN):c.1402C>T (p.Gln468Ter) rs63749908
NM_002087.4(GRN):c.350-50_350-47dup rs34424835
NM_002087.4(GRN):c.768_769dup (p.Gln257fs) rs1567887004
NM_002087.4(GRN):c.813_816del (p.Thr272fs) rs63749877
NM_002087.4(GRN):c.918C>A (p.Cys306Ter) rs1598364782
NM_002098.6(GUCA1B):c.146_147del (p.Thr49fs) rs1175310819
NM_002156.5(HSPD1):c.35G>C (p.Arg12Thr) rs1487251268
NM_002168.4(IDH2):c.1179-3T>A rs772170724
NM_002180.3(IGHMBP2):c.1313dup (p.Thr439fs) rs1566443170
NM_002180.3(IGHMBP2):c.1523C>T (p.Ser508Leu) rs754465226
NM_002180.3(IGHMBP2):c.1632+3del rs2154008712
NM_002181.4(IHH):c.538_539insTGACTGGGTGGCTTTG (p.Tyr180delinsLeuThrGlyTrpLeuTer) rs2106308415
NM_002203.4(ITGA2):c.2236-62T>C rs2287871
NM_002225.5(IVD):c.1009C>G (p.Arg337Gly) rs776608445
NM_002230.4(JUP):c.572G>T (p.Arg191Leu) rs143502391
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_002294.3(LAMP2):c.436_440dup (p.Leu147fs) rs2147283096
NM_002332.3(LRP1):c.300C>T (p.Asp100=) rs1799986
NM_002334.4(LRP4):c.4478T>A (p.Ile1493Asn) rs1451422777
NM_002335.4(LRP5):c.1481G>A (p.Arg494Gln) rs121908664
NM_002335.4(LRP5):c.3857G>A (p.Cys1286Tyr) rs1326459816
NM_002351.5(SH2D1A):c.160T>A (p.Tyr54Asn) rs2147531326
NM_002351.5(SH2D1A):c.202-1G>C rs2147534019
NM_002354.3(EPCAM):c.345G>C (p.Met115Ile) rs115212523
NM_002354.3(EPCAM):c.658-1G>T rs1573400213
NM_002373.6(MAP1A):c.5484_5485del (p.Met1829fs) rs2140209334
NM_002382.5(MAX):c.429G>C (p.Glu143Asp) rs773818427
NM_002397.5(MEF2C):c.104T>C (p.Leu35Pro) rs2153074771
NM_002397.5(MEF2C):c.1A>G (p.Met1Val) rs1432291994
NM_002397.5(MEF2C):c.44G>C (p.Arg15Pro) rs1202957297
NM_002397.5(MEF2C):c.658C>T (p.Arg220Ter) rs1761818173
NM_002397.5(MEF2C):c.826C>G (p.Leu276Val) rs2152250513
NM_002421.4(MMP1):c.105+115del rs5794198
NM_002435.3(MPI):c.796G>A (p.Glu266Lys) rs1595822583
NM_002437.5(MPV17):c.268TTG[1] (p.Leu91del) rs267607264
NM_002439.5(MSH3):c.1028-1A>T rs1008382885
NM_002439.5(MSH3):c.3244A>G (p.Ile1082Val) rs1746252809
NM_002439.5(MSH3):c.634A>C (p.Asn212His) rs756439715
NM_002444.3(MSN):c.1601A>C (p.Asp534Ala) rs1602878106
NM_002469.3(MYF6):c.340G>T (p.Glu114Ter) rs1592801675
NM_002470.4(MYH3):c.349-94dup rs370073463
NM_002470.4(MYH3):c.3611T>C (p.Leu1204Pro) rs1057518008
NM_002470.4(MYH3):c.4957-115CAAAA[3] rs137999435
NM_002470.4(MYH3):c.62A>G (p.Glu21Gly) rs1358980010
NM_002473.6(MYH9):c.2104C>T (p.Arg702Cys) rs80338826
NM_002473.6(MYH9):c.2129A>C (p.Asn710Thr) rs1364444432
NM_002473.6(MYH9):c.2507C>T (p.Pro836Leu) rs1603483077
NM_002473.6(MYH9):c.2725_2726del (p.Lys909fs) rs2146343648
NM_002473.6(MYH9):c.5251C>T (p.Arg1751Trp) rs770433607
NM_002474.3(MYH11):c.1750-1G>A rs2151269056
NM_002474.3(MYH11):c.5188G>T (p.Glu1730Ter) rs766136761
NM_002485.5(NBN):c.1036G>C (p.Val346Leu) rs200297914
NM_002485.5(NBN):c.1081A>G (p.Thr361Ala) rs1563538728
NM_002485.5(NBN):c.1228A>G (p.Ser410Gly) rs1185542329
NM_002485.5(NBN):c.1417C>G (p.Gln473Glu) rs755805461
NM_002485.5(NBN):c.156_157del (p.Ser53fs) rs767454740
NM_002485.5(NBN):c.167A>G (p.Asn56Ser) rs1554569009
NM_002485.5(NBN):c.179C>A (p.Thr60Lys) rs1586109164
NM_002485.5(NBN):c.1808T>G (p.Phe603Cys) rs1810522468
NM_002485.5(NBN):c.1914+2_1914+3del rs1586043528
NM_002485.5(NBN):c.2020G>A (p.Gly674Ser) rs1563513091
NM_002485.5(NBN):c.2140C>G (p.Arg714Gly) rs730881864
NM_002485.5(NBN):c.2150C>T (p.Thr717Ile) rs1554555764
NM_002485.5(NBN):c.266G>A (p.Arg89Gln) rs747315554
NM_002485.5(NBN):c.320+40G>T rs749797574
NM_002485.5(NBN):c.37+2dup rs876658183
NM_002485.5(NBN):c.442A>G (p.Thr148Ala) rs1060503479
NM_002485.5(NBN):c.517A>G (p.Lys173Glu) rs1563574056
NM_002485.5(NBN):c.584+7T>A rs1057523869
NM_002485.5(NBN):c.585-10A>G rs2129840066
NM_002485.5(NBN):c.657_661del (p.Lys219fs) rs587776650
NM_002485.5(NBN):c.702+1del rs1586088347
NM_002485.5(NBN):c.806G>C (p.Cys269Ser) rs768822147
NM_002485.5(NBN):c.832T>G (p.Ser278Ala) rs1225178489
NM_002485.5(NBN):c.842dup (p.Leu281fs) rs864309669
NM_002485.5(NBN):c.860A>G (p.Lys287Arg) rs2129827781
NM_002485.5(NBN):c.89del (p.Asn30fs) rs587781718
NM_002485.5(NBN):c.958A>G (p.Lys320Glu) rs1563548624
NM_002485.5(NBN):c.97A>G (p.Ile33Val) rs1563584435
NM_002500.5(NEUROD1):c.723C>G (p.His241Gln) rs561017686
NM_002524.5(NRAS):c.173C>T (p.Thr58Ile) rs2101742052
NM_002529.4(NTRK1):c.1120A>G (p.Ile374Val) rs1347421266
NM_002529.4(NTRK1):c.1501+35GT[12] rs56185968
NM_002529.4(NTRK1):c.1525G>C (p.Asp509His) rs1035934237
NM_002529.4(NTRK1):c.341C>G (p.Thr114Ser) rs202161010
NM_002529.4(NTRK1):c.571T>C (p.Cys191Arg) rs1026300967
NM_002547.3(OPHN1):c.1138+1G>A rs1602226670
NM_002547.3(OPHN1):c.597+2T>C rs2147484573
NM_002576.5(PAK1):c.424T>C (p.Tyr142His) rs2137081192
NM_002585.4(PBX1):c.318dup (p.Arg107fs) rs2102302158
NM_002609.4(PDGFRB):c.1997A>G (p.Asn666Ser) rs2113894766
NM_002615.7(SERPINF1):c.998-2A>G rs1555572921
NM_002617.4(PEX10):c.52G>C (p.Asp18His) rs61750432
NM_002617.4(PEX10):c.827G>C (p.Cys276Ser) rs1414973726
NM_002637.4(PHKA1):c.635T>G (p.Leu212Ter) rs2147781328
NM_002637.4(PHKA1):c.919-2A>G rs2147766482
NM_002641.4(PIGA):c.109A>G (p.Met37Val) rs2147724073
NM_002641.4(PIGA):c.1235G>A (p.Arg412Gln) rs1602206653
NM_002641.4(PIGA):c.1386_1393dup (p.Thr465fs) rs1602206514
NM_002641.4(PIGA):c.145G>A (p.Val49Met) rs1569180100
NM_002641.4(PIGA):c.350T>C (p.Phe117Ser) rs2147723760
NM_002641.4(PIGA):c.955G>A (p.Val319Met) rs765961204
NM_002653.5(PITX1):c.793G>T (p.Gly265Cys) rs141612135
NM_002653.5(PITX1):c.89C>T (p.Ala30Val) rs2149562886
NM_002667.5(PLN):c.131T>C (p.Leu44Pro) rs794729210
NM_002691.4(POLD1):c.1109G>T (p.Ser370Ile) rs868850526
NM_002691.4(POLD1):c.1492C>T (p.Gln498Ter) rs1240526196
NM_002691.4(POLD1):c.1686+43G>T rs201197467
NM_002691.4(POLD1):c.1687-2A>G rs1568628299
NM_002691.4(POLD1):c.189G>T (p.Glu63Asp) rs776773005
NM_002691.4(POLD1):c.19C>T (p.Pro7Ser) rs2122193847
NM_002691.4(POLD1):c.208G>T (p.Val70Phe) rs147911699
NM_002691.4(POLD1):c.2155-5G>A rs891420901
NM_002691.4(POLD1):c.2157C>T (p.Ser719=) rs760678755
NM_002691.4(POLD1):c.230C>G (p.Pro77Arg) rs1555789213
NM_002691.4(POLD1):c.2449C>G (p.Arg817Gly) rs148176230
NM_002691.4(POLD1):c.278C>T (p.Pro93Leu) rs2122203287
NM_002691.4(POLD1):c.2874G>A (p.Leu958=) rs1568639764
NM_002691.4(POLD1):c.3067+11del rs780881147
NM_002691.4(POLD1):c.3073G>A (p.Val1025Met) rs1060501858
NM_002691.4(POLD1):c.3121-33G>C rs376468859
NM_002691.4(POLD1):c.3293G>T (p.Arg1098Leu) rs878854552
NM_002691.4(POLD1):c.3316G>A (p.Ala1106Thr) rs778990190
NM_002691.4(POLD1):c.536G>T (p.Gly179Val) rs1060501831
NM_002691.4(POLD1):c.657C>T (p.Leu219=) rs777751728
NM_002691.4(POLD1):c.900G>A (p.Pro300=) rs142407935
NM_002693.3(POLG):c.1198G>A (p.Val400Met) rs529639381
NM_002693.3(POLG):c.2582C>T (p.Thr861Ile) rs2152061673
NM_002693.3(POLG):c.844T>G (p.Tyr282Asp) rs1290567099
NM_002734.5(PRKAR1A):c.25A>G (p.Ser9Gly) rs778468626
NM_002734.5(PRKAR1A):c.349-5T>C rs1456043929
NM_002739.5(PRKCG):c.230G>A (p.Cys77Tyr) rs1599938631
NM_002739.5(PRKCG):c.367G>C (p.Gly123Arg) rs386134164
NM_002739.5(PRKCG):c.379C>A (p.Gln127Lys) rs1599943097
NM_002742.3(PRKD1):c.1316G>A (p.Arg439Gln) rs1439477100
NM_002742.3(PRKD1):c.2443C>G (p.Leu815Val) rs2138942108
NM_002742.3(PRKD1):c.922T>G (p.Cys308Gly) rs2139136006
NM_002746.3(MAPK3):c.164T>C (p.Met55Thr) rs889768664
NM_002755.4(MAP2K1):c.370C>T (p.Pro124Ser) rs1057519732
NM_002764.4(PRPS1):c.127G>A (p.Glu43Lys) rs2147681381
NM_002764.4(PRPS1):c.359G>T (p.Gly120Val) rs1602901832
NM_002769.5(PRSS1):c.161A>G (p.Asn54Ser) rs144422014
NM_002769.5(PRSS1):c.200+1G>A rs143909348
NM_002769.5(PRSS1):c.529G>T (p.Gly177Ter) rs1240508430
NM_002769.5(PRSS1):c.86A>T (p.Asn29Ile) rs111033566
NM_002778.4(PSAP):c.643A>C (p.Asn215His) rs121918107
NM_002816.5(PSMD12):c.1096A>G (p.Met366Val) rs1598552881
NM_002821.5(PTK7):c.2088T>G (p.Pro696=) rs1036437395
NM_002834.5(PTPN11):c.5C>T (p.Thr2Ile) rs267606990
NM_002834.5(PTPN11):c.643-61_643-38del rs1592831434
NM_002834.5(PTPN11):c.663A>G (p.Ile221Met)
NM_002860.4(ALDH18A1):c.401C>T (p.Ser134Phe) rs2139621988
NM_002863.5(PYGL):c.1404-1G>A rs750567664
NM_002863.5(PYGL):c.176C>A (p.Thr59Lys) rs150483902
NM_002863.5(PYGL):c.2071G>A (p.Gly691Arg) rs539898848
NM_002875.5(RAD51):c.1dup (p.Met1fs) rs55714242
NM_002875.5(RAD51):c.671C>G (p.Ala224Gly)
NM_002878.4(RAD51D):c.109G>C (p.Glu37Gln) rs876659848
NM_002878.4(RAD51D):c.192C>T (p.Phe64=) rs1567735397
NM_002878.4(RAD51D):c.1A>G (p.Met1Val) rs561425038
NM_002878.4(RAD51D):c.232T>G (p.Ser78Ala) rs1567735315
NM_002878.4(RAD51D):c.263+1450T>A rs1567734484
NM_002878.4(RAD51D):c.263+1551G>T rs780006577
NM_002878.4(RAD51D):c.263+1644T>C rs1597874516
NM_002878.4(RAD51D):c.401A>G (p.Tyr134Cys) rs1567728366
NM_002878.4(RAD51D):c.475del (p.Glu159fs) rs1597862493
NM_002878.4(RAD51D):c.480+4A>G rs1567728211
NM_002878.4(RAD51D):c.481G>T (p.Ala161Ser) rs1567727951
NM_002878.4(RAD51D):c.493C>G (p.Arg165Gly) rs544654228
NM_002878.4(RAD51D):c.667+2_667+23del rs1597858626
NM_002878.4(RAD51D):c.736G>A (p.Val246Met) rs1597858213
NM_002878.4(RAD51D):c.738+10C>A rs777453585
NM_002878.4(RAD51D):c.80C>T (p.Thr27Ile) rs139642328
NM_002878.4(RAD51D):c.83-3C>G rs1555570424
NM_002878.4(RAD51D):c.83-4T>A rs1567735916
NM_002878.4(RAD51D):c.844G>A (p.Glu282Lys) rs1447892901
NM_002878.4(RAD51D):c.86T>C (p.Val29Ala) rs1567735899
NM_002878.4(RAD51D):c.883C>G (p.Leu295Val) rs752910287
NM_002880.4(RAF1):c.1082G>C (p.Gly361Ala) rs397516813
NM_002880.4(RAF1):c.226A>G (p.Met76Val) rs730880999
NM_002880.4(RAF1):c.773C>G (p.Thr258Arg) rs1575573330
NM_002880.4(RAF1):c.776C>A (p.Ser259Tyr) rs397516827
NM_002880.4(RAF1):c.834+8G>A rs727504615
NM_002892.4(ARID4A):c.1854G>T (p.Arg618Ser) rs2035018997
NM_002907.4(RECQL):c.-45-1G>A rs756434860
NM_002907.4(RECQL):c.-67T>C rs1172083327
NM_002907.4(RECQL):c.1099-2A>G rs1591973610
NM_002907.4(RECQL):c.120dup (p.Val41fs) rs745659712
NM_002907.4(RECQL):c.1253A>C (p.Tyr418Ser) rs1295951241
NM_002907.4(RECQL):c.1339T>C (p.Cys447Arg) rs113415183
NM_002907.4(RECQL):c.1694C>G (p.Ala565Gly) rs1248986058
NM_002907.4(RECQL):c.1750C>T (p.His584Tyr) rs1318382161
NM_002907.4(RECQL):c.1798-2_1798-1del rs1591964988
NM_002907.4(RECQL):c.1798-2_1798-1insT rs1565560075
NM_002907.4(RECQL):c.1801G>T (p.Glu601Ter) rs1383372186
NM_002907.4(RECQL):c.1808C>T (p.Ser603Phe) rs767841512
NM_002907.4(RECQL):c.1817G>T (p.Cys606Phe) rs1191345404
NM_002907.4(RECQL):c.1856A>T (p.Asn619Ile) rs2137305371
NM_002907.4(RECQL):c.214+6C>T rs768701992
NM_002907.4(RECQL):c.215-20_223del rs1591988737
NM_002907.4(RECQL):c.292G>T (p.Glu98Ter) rs1010112210
NM_002907.4(RECQL):c.371A>T (p.Gln124Leu) rs1183902842
NM_002907.4(RECQL):c.395-5T>C rs2137388604
NM_002907.4(RECQL):c.395-7del rs1591984814
NM_002907.4(RECQL):c.487G>T (p.Ala163Ser) rs1565570972
NM_002907.4(RECQL):c.493_497del (p.Ser164_Ser165insTer) rs1565570957
NM_002907.4(RECQL):c.501+15C>T rs373601640
NM_002907.4(RECQL):c.675_676insGATGTAG (p.Gln226fs) rs1591981391
NM_002907.4(RECQL):c.676delinsGATGTAGCATGT (p.Gln226fs) rs1565569139
NM_002907.4(RECQL):c.677_678insTGTA (p.Gln226fs) rs1591981379
NM_002907.4(RECQL):c.82C>T (p.Leu28Phe) rs1565574166
NM_002907.4(RECQL):c.933A>T (p.Arg311Ser) rs1565565568
NM_002968.3(SALL1):c.1007G>C (p.Gly336Ala) rs771174750
NM_002968.3(SALL1):c.1301C>T (p.Thr434Ile) rs2143446657
NM_002968.3(SALL1):c.949C>T (p.Pro317Ser) rs864621971
NM_002968.3(SALL1):c.967C>T (p.Gln323Ter) rs104894538
NM_002971.6(SATB1):c.1219G>C (p.Glu407Gln) rs2125208683
NM_002979.5(SCP2):c.70-47del rs143386725
NM_003000.3(SDHB):c.540+11C>T rs1160578491
NM_003000.3(SDHB):c.559A>G (p.Ile187Val) rs1557739989
NM_003000.3(SDHB):c.591del (p.Ser198fs) rs1060503757
NM_003000.3(SDHB):c.721T>G (p.Tyr241Asp) rs1060503758
NM_003000.3(SDHB):c.73-21G>T rs1311107626
NM_003031.4(SIAH1):c.484G>A (p.Asp162Asn) rs2151043928
NM_003042.4(SLC6A1):c.1151TCT[2] (p.Phe386del) rs2124930894
NM_003042.4(SLC6A1):c.1528G>A (p.Gly510Ser) rs2124944413
NM_003042.4(SLC6A1):c.1648G>A (p.Gly550Arg) rs886042046
NM_003042.4(SLC6A1):c.317A>G (p.Gln106Arg) rs1064795290
NM_003042.4(SLC6A1):c.416A>G (p.Tyr139Cys) rs2124908722
NM_003042.4(SLC6A1):c.640_658del (p.Leu214fs) rs1553688970
NM_003042.4(SLC6A1):c.806T>C (p.Leu269Pro) rs2124924369
NM_003042.4(SLC6A1):c.875TCT[2] (p.Phe294del) rs1574907198
NM_003051.4(SLC16A1):c.982C>T (p.Arg328Ter) rs606231310
NM_003060.4(SLC22A5):c.254_264dup (p.Ile89fs) rs377767449
NM_003060.4(SLC22A5):c.631T>C (p.Tyr211His) rs780314370
NM_003060.4(SLC22A5):c.641C>T (p.Ala214Val) rs386134199
NM_003060.4(SLC22A5):c.952-5_955del rs2126787981
NM_003068.5(SNAI2):c.364G>A (p.Ala122Thr) rs907510990
NM_003070.5(SMARCA2):c.2258T>A (p.Leu753His) rs2130464312
NM_003070.5(SMARCA2):c.3587A>C (p.Gln1196Pro) rs1586721515
NM_003070.5(SMARCA2):c.669GCA[11] (p.Gln237_Gln238del) rs113070757
NM_003070.5(SMARCA2):c.929C>A (p.Pro310Gln) rs1330852847
NM_003072.5(SMARCA4):c.-32+34C>T rs1351249230
NM_003072.5(SMARCA4):c.1351C>T (p.Arg451Cys) rs2086534839
NM_003072.5(SMARCA4):c.2048C>T (p.Pro683Leu) rs878854203
NM_003072.5(SMARCA4):c.2156G>A (p.Gly719Asp) rs2088712889
NM_003072.5(SMARCA4):c.2297T>G (p.Val766Gly) rs201128299
NM_003073.5(SMARCB1):c.307_346del (p.Asn103fs) rs2145964108
NM_003073.5(SMARCB1):c.747dup (p.Thr250fs) rs2146010204
NM_003107.3(SOX4):c.975C>G (p.Tyr325Ter) rs1305965061
NM_003108.4(SOX11):c.1109C>T (p.Ser370Phe) rs991368727
NM_003108.4(SOX11):c.167T>G (p.Phe56Cys) rs2103276337
NM_003108.4(SOX11):c.170T>C (p.Met57Thr) rs2103276340
NM_003119.4(SPG7):c.1779+5G>T rs1567931957
NM_003119.4(SPG7):c.1997G>T (p.Gly666Val) rs1597665080
NM_003119.4(SPG7):c.773_774del (p.Val258fs) rs768136171
NM_003126.4(SPTA1):c.1833+1G>A rs1035389616
NM_003126.4(SPTA1):c.4339-99C>T rs200830867
NM_003126.4(SPTA1):c.570G>A (p.Trp190Ter) rs1571530070
NM_003126.4(SPTA1):c.6417G>C (p.Glu2139Asp) rs752114200
NM_003126.4(SPTA1):c.6421C>T (p.Arg2141Trp) rs41273519
NM_003128.3(SPTBN1):c.1043G>C (p.Arg348Pro) rs748951777
NM_003128.3(SPTBN1):c.4543C>T (p.His1515Tyr) rs1238041705
NM_003128.3(SPTBN1):c.586C>T (p.His196Tyr) rs2103838550
NM_003143.3(SSBP1):c.320G>A (p.Arg107Gln) rs1799747454
NM_003172.4(SURF1):c.11_27dup (p.Gly10fs) rs1588693841
NM_003172.4(SURF1):c.236G>A (p.Trp79Ter) rs1244071473
NM_003172.4(SURF1):c.870dup (p.Lys291Ter) rs782061187
NM_003227.4(TFR2):c.2101C>T (p.Arg701Ter) rs946552921
NM_003235.5(TG):c.4369C>G (p.Leu1457Val) rs989763340
NM_003235.5(TG):c.946G>A (p.Val316Ile) rs1001892478
NM_003239.5(TGFB3):c.171del (p.Glu58fs) rs1594792466
NM_003242.6(TGFBR2):c.1134G>C (p.Arg378Ser) rs1575158079
NM_003242.6(TGFBR2):c.1159G>A (p.Val387Met) rs35766612
NM_003242.6(TGFBR2):c.1447del (p.Cys483fs) rs2125451831
NM_003242.6(TGFBR2):c.1561T>C (p.Trp521Arg) rs1575166666
NM_003242.6(TGFBR2):c.1570G>A (p.Asp524Asn) rs727504421
NM_003285.3(TNR):c.2818del (p.Glu940fs) rs2102011470
NM_003285.3(TNR):c.3916A>C (p.Thr1306Pro) rs199853947
NM_003289.4(TPM2):c.394_396dup (p.Asn132dup) rs2131852702
NM_003289.4(TPM2):c.773-3dup rs35401252
NM_003322.6(TULP1):c.1388del (p.Asn463fs) rs1581736024
NM_003336.4(UBE2A):c.31_42del (p.Asp12_Arg15del) rs1603308066
NM_003361.4(UMOD):c.263G>A (p.Gly88Asp) rs2141676609
NM_003361.4(UMOD):c.362A>G (p.His121Arg) rs997687142
NM_003361.4(UMOD):c.890G>A (p.Cys297Tyr) rs1596560944
NM_003392.7(WNT5A):c.332G>A (p.Arg111Gln) rs2106945475
NM_003413.4(ZIC3):c.135CGC[8] (p.Ala55del) rs748325646
NM_003467.3(CXCR4):c.1013C>A (p.Ser338Ter) rs104893626
NM_003470.3(USP7):c.715C>T (p.Arg239Ter) rs781247345
NM_003482.4(KMT2D):c.10777del (p.Ala3593fs) rs1592122640
NM_003482.4(KMT2D):c.11766_11825del (p.Leu3926_Gln3945del) rs2120435996
NM_003482.4(KMT2D):c.11796_11813del (p.Gln3934_Gln3939del) rs759803583
NM_003482.4(KMT2D):c.14140A>T (p.Ile4714Phe) rs1592110609
NM_003482.4(KMT2D):c.14529G>T (p.Lys4843Asn) rs764121956
NM_003482.4(KMT2D):c.14976del (p.Leu4993fs) rs1592106220
NM_003482.4(KMT2D):c.14989C>T (p.Gln4997Ter) rs2120365558
NM_003482.4(KMT2D):c.15061C>T (p.Arg5021Ter) rs587783695
NM_003482.4(KMT2D):c.16412+2_16412+16del rs2137704696
NM_003482.4(KMT2D):c.176+1G>A rs1592162768
NM_003482.4(KMT2D):c.2250_2276del (p.746RPEEPHLSP[1]) rs587778449
NM_003482.4(KMT2D):c.2471T>G (p.Leu824Trp) rs2120665449
NM_003482.4(KMT2D):c.3392C>T (p.Pro1131Leu) rs201623566
NM_003482.4(KMT2D):c.4163G>T (p.Arg1388Leu) rs202217665
NM_003482.4(KMT2D):c.4237-2A>C rs797045001
NM_003482.4(KMT2D):c.6058C>T (p.Pro2020Ser) rs939099741
NM_003482.4(KMT2D):c.7021C>T (p.Gln2341Ter) rs1592136242
NM_003482.4(KMT2D):c.8046+4del rs1592133674
NM_003482.4(KMT2D):c.8230-1G>A rs1592132971
NM_003482.4(KMT2D):c.9822GCA[5] (p.Gln3282dup) rs768814728
NM_003491.4(NAA10):c.116C>T (p.Pro39Leu) rs1557107942
NM_003491.4(NAA10):c.377T>G (p.Leu126Arg) rs1603290291
NM_003491.4(NAA10):c.445C>T (p.Arg149Trp) rs2065162324
NM_003512.4(H2AC6):c.392G>T (p.Ter131Leu) rs1484017288
NM_003560.3(PLA2G6):c.[1351delC];[1942G>A]
NM_003560.4(PLA2G6):c.1069G>A (p.Ala357Thr) rs2145770192
NM_003560.4(PLA2G6):c.1085A>T (p.Asn362Ile) rs2145753835
NM_003560.4(PLA2G6):c.1428-5T>G rs1555988730
NM_003560.4(PLA2G6):c.1474_1478del (p.Ile492fs) rs2145722213
NM_003560.4(PLA2G6):c.1624T>G (p.Phe542Val) rs1602088419
NM_003560.4(PLA2G6):c.164G>A (p.Trp55Ter) rs1177564212
NM_003560.4(PLA2G6):c.1772G>A (p.Arg591Gln) rs776713955
NM_003560.4(PLA2G6):c.1778C>T (p.Pro593Leu) rs1451486649
NM_003560.4(PLA2G6):c.1969G>A (p.Ala657Thr) rs1318351016
NM_003560.4(PLA2G6):c.2276+1G>A rs1397030516
NM_003560.4(PLA2G6):c.2350G>A (p.Glu784Lys) rs1602051017
NM_003560.4(PLA2G6):c.437dup (p.Cys146fs) rs1216972369
NM_003560.4(PLA2G6):c.798-22A>T rs372731031
NM_003579.4(RAD54L):c.1099del (p.Ala367fs) rs765127725
NM_003579.4(RAD54L):c.1870-1G>A rs1569626449
NM_003590.5(CUL3):c.173A>G (p.Tyr58Cys) rs1553535841
NM_003611.3(OFD1):c.1007dup (p.Ser337fs) rs749448671
NM_003611.3(OFD1):c.802_820del (p.Leu268fs) rs2146970113
NM_003620.4(PPM1D):c.1267G>T (p.Glu423Ter) rs1057524700
NM_003620.4(PPM1D):c.1535del (p.Asn512fs) rs763475304
NM_003620.4(PPM1D):c.811G>A (p.Val271Ile) rs1001134677
NM_003660.4(PPFIA3):c.128T>A (p.Leu43Gln) rs777450948
NM_003661.4(APOL1):c.1164_1169del (p.Asn388_Tyr389del) rs71785313
NM_003665.4(FCN3):c.349del (p.Leu117fs) rs532781899
NM_003673.4(TCAP):c.34GAG[1] (p.Glu13del) rs397516862
NM_003680.4(YARS1):c.1034C>T (p.Ser345Leu) rs35746182
NM_003690.5(PRKRA):c.22_23del (p.Ala8fs) rs141354030
NM_003690.5(PRKRA):c.66-4_66-3insGGACCTT rs1553599483
NM_003718.5(CDK13):c.2563G>C (p.Asp855His) rs2150517037
NM_003718.5(CDK13):c.2611A>G (p.Thr871Ala) rs2150526768
NM_003719.5(PDE8B):c.1031T>G (p.Val344Gly) rs767230883
NM_003722.5(TP63):c.1350-6315C>A rs1577182394
NM_003722.5(TP63):c.324+7G>A rs930341004
NM_003722.5(TP63):c.325-18543_325-18542insAGAG rs34201045
NM_003738.5(PTCH2):c.1172_1173del (p.Phe390_Ser391insTer) rs56126236
NM_003738.5(PTCH2):c.618-6C>A rs924268501
NM_003742.4(ABCB11):c.2076-1G>A rs2105947080
NM_003742.4(ABCB11):c.2179-1G>A rs2105935255
NM_003742.4(ABCB11):c.257T>A (p.Met86Lys) rs1258387740
NM_003742.4(ABCB11):c.3174del (p.Gln1058fs) rs2105891349
NM_003764.4(STX11):c.448G>T (p.Glu150Ter) rs2128757192
NM_003764.4(STX11):c.554dup (p.Trp186fs) rs1317576992
NM_003764.4(STX11):c.581_584del (p.Leu194fs) rs1584062332
NM_003797.5(EED):c.1133C>T (p.Ala378Val) rs1593776227
NM_003801.4(GPAA1):c.1826C>T (p.Pro609Leu) rs868951923
NM_003849.4(SUCLG1):c.201+1G>T rs1573374828
NM_003849.4(SUCLG1):c.457G>T (p.Val153Leu) rs1573369932
NM_003849.4(SUCLG1):c.457_458delinsTA (p.Val153Ter) rs1573369929
NM_003849.4(SUCLG1):c.458T>A (p.Val153Glu) rs1573369925
NM_003849.4(SUCLG1):c.643C>T (p.Gln215Ter) rs2104245141
NM_003850.3(SUCLA2):c.887del (p.Gln296fs) rs1593479845
NM_003850.3(SUCLA2):c.91-10A>G rs754813556
NM_003850.3(SUCLA2):c.920C>T (p.Ala307Val) rs1011464708
NM_003859.3(DPM1):c.649G>A (p.Ala217Thr) rs1197456861
NM_003865.3(HESX1):c.460-7A>G rs1579346889
NM_003907.3(EIF2B5):c.1030C>G (p.Arg344Gly) rs1560108537
NM_003907.3(EIF2B5):c.407G>A (p.Arg136His) rs958193703
NM_003907.3(EIF2B5):c.913A>T (p.Met305Leu) rs200143780
NM_003919.3(SGCE):c.402C>A (p.Tyr134Ter) rs1554355416
NM_003919.3(SGCE):c.723_724dup (p.Pro242fs) rs2116723835
NM_003919.3(SGCE):c.793C>T (p.Gln265Ter) rs1584546131
NM_003924.4(PHOX2B):c.741_755dup (p.Ala256_Ala260dup) rs775006915
NM_003931.3(WASF1):c.136A>T (p.Lys46Ter) rs778229060
NM_003995.4(NPR2):c.653G>A (p.Arg218Gln) rs1285934866
NM_003998.4(NFKB1):c.407+2T>G rs2149168346
NM_004004.6(GJB2):c.148G>A (p.Asp50Asn) rs28931594
NM_004004.6(GJB2):c.35del (p.Gly12fs) rs80338939
NM_004004.6(GJB2):c.412A>G (p.Ser138Gly) rs397516876
NM_004006.2(DMD):c.10453dup (p.Leu3485Profs) rs886043375
NM_004006.3(DMD):c.10077T>G (p.Tyr3359Ter) rs1181271457
NM_004006.3(DMD):c.10086+1G>T rs398123828
NM_004006.3(DMD):c.10087-1G>A rs1602417503
NM_004006.3(DMD):c.10097_10099del (p.Gly3366del) rs1060502613
NM_004006.3(DMD):c.10223+4A>G rs2148290215
NM_004006.3(DMD):c.10223+5G>C rs2148290176
NM_004006.3(DMD):c.10224-1dup rs1602409174
NM_004006.3(DMD):c.10224dup (p.Pro3409fs) rs2148280837
NM_004006.3(DMD):c.10262+1G>T rs145603325
NM_004006.3(DMD):c.10304C>G (p.Ser3435Ter) rs1602369798
NM_004006.3(DMD):c.10367del (p.Asn3456fs) rs1556028034
NM_004006.3(DMD):c.10429C>T (p.Gln3477Ter) rs895755247
NM_004006.3(DMD):c.10498_10499del (p.Glu3499_Ser3500insTer) rs1602337330
NM_004006.3(DMD):c.10633_10634dup (p.Met3545fs) rs1602146767
NM_004006.3(DMD):c.10677dup (p.Ala3560fs) rs2147934458
NM_004006.3(DMD):c.1098A>T (p.Gly366=) rs72470507
NM_004006.3(DMD):c.1098dup (p.Glu367fs) rs2146833198
NM_004006.3(DMD):c.1129del (p.Asp377fs) rs1602467787
NM_004006.3(DMD):c.1144del (p.His382fs) rs1602467590
NM_004006.3(DMD):c.1147G>T (p.Glu383Ter) rs1602467530
NM_004006.3(DMD):c.1150-2A>T rs794727030
NM_004006.3(DMD):c.1329C>T (p.Ser443=) rs1060502631
NM_004006.3(DMD):c.1331+3_1331+6del rs2146818031
NM_004006.3(DMD):c.1351G>T (p.Asp451Tyr) rs1602169535
NM_004006.3(DMD):c.1412C>T (p.Thr471Ile) rs201058100
NM_004006.3(DMD):c.1422G>T (p.Met474Ile) rs1602169021
NM_004006.3(DMD):c.1480A>T (p.Lys494Ter) rs1234153462
NM_004006.3(DMD):c.1489C>T (p.Gln497Ter) rs128626241
NM_004006.3(DMD):c.1602+2T>A rs2149264374
NM_004006.3(DMD):c.1664_1667dup (p.Asp556fs) rs1601810667
NM_004006.3(DMD):c.1734dup (p.Glu579fs) rs398123866
NM_004006.3(DMD):c.1750A>T (p.Lys584Ter) rs1601808608
NM_004006.3(DMD):c.1777C>T (p.Gln593Ter) rs1601808326
NM_004006.3(DMD):c.1788del (p.Met596fs) rs1601808296
NM_004006.3(DMD):c.1791dup (p.Ser598fs) rs1601808288
NM_004006.3(DMD):c.1863T>G (p.Tyr621Ter) rs2149095319
NM_004006.3(DMD):c.1894A>T (p.Lys632Ter) rs1603636541
NM_004006.3(DMD):c.1941dup (p.Ala648fs) rs2149094788
NM_004006.3(DMD):c.1966C>T (p.Gln656Ter) rs1603636537
NM_004006.3(DMD):c.196A>T (p.Lys66Ter) rs1603447072
NM_004006.3(DMD):c.2017C>T (p.Gln673Ter) rs128626232
NM_004006.3(DMD):c.2064dup (p.Thr689fs) rs1603635953
NM_004006.3(DMD):c.208A>T (p.Arg70Ter) rs2080510348
NM_004006.3(DMD):c.2101del (p.Glu701fs) rs1603635950
NM_004006.3(DMD):c.2114del (p.Pro705fs) rs1603635949
NM_004006.3(DMD):c.2169-1G>A rs1603635331
NM_004006.3(DMD):c.2215_2216del (p.Glu739fs) rs2148804513
NM_004006.3(DMD):c.2287_2292+12del rs1603635326
NM_004006.3(DMD):c.2293-2_2294del rs2148691727
NM_004006.3(DMD):c.2302C>T (p.Arg768Ter) rs201366610
NM_004006.3(DMD):c.2305G>T (p.Glu769Ter) rs2148691516
NM_004006.3(DMD):c.2365G>T (p.Glu789Ter) rs763844939
NM_004006.3(DMD):c.2380+1G>A rs398123884
NM_004006.3(DMD):c.2407del (p.Gln803fs) rs1603634748
NM_004006.3(DMD):c.2436G>A (p.Trp812Ter) rs398123889
NM_004006.3(DMD):c.2442del (p.Glu814fs) rs1603634747
NM_004006.3(DMD):c.2448C>A (p.Cys816Ter) rs1603634746
NM_004006.3(DMD):c.2461G>T (p.Glu821Ter) rs1603634745
NM_004006.3(DMD):c.2465_2466del (p.Arg822fs) rs1603634744
NM_004006.3(DMD):c.2499del (p.Ile833fs) rs2148631657
NM_004006.3(DMD):c.2529del (p.Glu843fs) rs1603634743
NM_004006.3(DMD):c.2572_2578del (p.Thr858fs) rs1603634742
NM_004006.3(DMD):c.261_264+3del rs2148984206
NM_004006.3(DMD):c.2622+1G>T rs398123901
NM_004006.3(DMD):c.2633A>G (p.Asn878Ser) rs2148584563
NM_004006.3(DMD):c.263_264dup (p.Val89fs) rs1603447057
NM_004006.3(DMD):c.264+5G>A rs398123902
NM_004006.3(DMD):c.2642C>A (p.Ser881Ter) rs747937552
NM_004006.3(DMD):c.265-463A>G rs1603441629
NM_004006.3(DMD):c.2669T>G (p.Leu890Ter) rs1557380616
NM_004006.3(DMD):c.266T>C (p.Val89Ala) rs1557058441
NM_004006.3(DMD):c.2694dup (p.Glu899fs) rs1603634609
NM_004006.3(DMD):c.2708del (p.Gly903fs) rs1603634607
NM_004006.3(DMD):c.2792_2793del (p.Glu931fs) rs1603634604
NM_004006.3(DMD):c.2803+5G>C rs1603634603
NM_004006.3(DMD):c.2834A>G (p.Gln945Arg) rs2040732218
NM_004006.3(DMD):c.2853del (p.Arg952fs) rs1603634299
NM_004006.3(DMD):c.2869C>T (p.Gln957Ter) rs1603634298
NM_004006.3(DMD):c.2873C>G (p.Ser958Ter) rs2148485357
NM_004006.3(DMD):c.2926G>T (p.Glu976Ter) rs767387334
NM_004006.3(DMD):c.2950-2A>G rs398123915
NM_004006.3(DMD):c.2960del (p.Ser987fs) rs1603634207
NM_004006.3(DMD):c.3013G>T (p.Glu1005Ter) rs1603634206
NM_004006.3(DMD):c.3059C>G (p.Ser1020Ter) rs398123919
NM_004006.3(DMD):c.3076G>T (p.Glu1026Ter) rs398123920
NM_004006.3(DMD):c.31+1del rs1603419074
NM_004006.3(DMD):c.31+5G>A rs1403865104
NM_004006.3(DMD):c.31+7A>G rs2148863971
NM_004006.3(DMD):c.3110_3111del (p.Val1037fs) rs1603634203
NM_004006.3(DMD):c.3157dup (p.Ile1053fs) rs1603634199
NM_004006.3(DMD):c.3162+1G>A rs1335666832
NM_004006.3(DMD):c.3193del (p.Ala1065fs) rs1603634105
NM_004006.3(DMD):c.3257del (p.Lys1086fs) rs1569563740
NM_004006.3(DMD):c.3257dup (p.Gln1087fs) rs1569563740
NM_004006.3(DMD):c.3295_3296del (p.Gln1099fs) rs1603634079
NM_004006.3(DMD):c.332T>A (p.Ile111Asn) rs1603441549
NM_004006.3(DMD):c.3388_3389dup (p.Leu1131fs) rs1557369413
NM_004006.3(DMD):c.3460G>T (p.Gly1154Ter) rs1603633868
NM_004006.3(DMD):c.3533_3536del (p.Glu1178fs) rs1603633864
NM_004006.3(DMD):c.356del (p.Gln119fs) rs1557058308
NM_004006.3(DMD):c.3603+1G>A rs1209389771
NM_004006.3(DMD):c.3603+1G>T rs1209389771
NM_004006.3(DMD):c.3603+2T>A rs146071084
NM_004006.3(DMD):c.3603+2_3603+3insTA rs1603633860
NM_004006.3(DMD):c.3603+2dup rs796523999
NM_004006.3(DMD):c.3603G>A (p.Lys1201=) rs1265370991
NM_004006.3(DMD):c.3639del (p.Lys1213_Val1214insTer) rs398123943
NM_004006.3(DMD):c.3697C>T (p.Gln1233Ter) rs1339088514
NM_004006.3(DMD):c.3713del (p.Lys1238fs) rs1557362198
NM_004006.3(DMD):c.3787-2A>G rs1474837238
NM_004006.3(DMD):c.3795G>A (p.Trp1265Ter) rs1603633545
NM_004006.3(DMD):c.3843G>A (p.Trp1281Ter) rs1603633541
NM_004006.3(DMD):c.394C>T (p.Gln132Ter) rs2148807584
NM_004006.3(DMD):c.3969_3970insG (p.Arg1324fs) rs2148194212
NM_004006.3(DMD):c.3980del (p.Ala1327fs) rs1603633486
NM_004006.3(DMD):c.39del (p.Glu14fs) rs1602766655
NM_004006.3(DMD):c.4052_4053insCC (p.Trp1351fs) rs2148193225
NM_004006.3(DMD):c.4150G>T (p.Glu1384Ter) rs2147935387
NM_004006.3(DMD):c.4172A>G (p.Lys1391Arg) rs1603632892
NM_004006.3(DMD):c.4231C>T (p.Gln1411Ter) rs1010666282
NM_004006.3(DMD):c.4294C>T (p.Gln1432Ter) rs1603632326
NM_004006.3(DMD):c.4306_4309del (p.Ala1436fs) rs1603632324
NM_004006.3(DMD):c.4314_4315del (p.Arg1439fs) rs398123950
NM_004006.3(DMD):c.4315del (p.Arg1439fs) rs398123950
NM_004006.3(DMD):c.4327C>T (p.Gln1443Ter) rs1603632322
NM_004006.3(DMD):c.433C>T (p.Arg145Ter) rs128626235
NM_004006.3(DMD):c.4350dup (p.Leu1451fs) rs772220893
NM_004006.3(DMD):c.4352T>G (p.Leu1451Ter) rs1603632316
NM_004006.3(DMD):c.4388_4394dup (p.Asn1466fs) rs2147613101
NM_004006.3(DMD):c.4414C>T (p.Gln1472Ter) rs128626248
NM_004006.3(DMD):c.4423A>T (p.Lys1475Ter) rs1603632314
NM_004006.3(DMD):c.4438G>T (p.Glu1480Ter) rs1603632311
NM_004006.3(DMD):c.444del (p.Arg149fs) rs1603437272
NM_004006.3(DMD):c.4477_4493del (p.Val1493fs) rs1603632309
NM_004006.3(DMD):c.4536_4540del (p.Val1515_Lys1516insTer) rs1603632248
NM_004006.3(DMD):c.453T>G (p.Tyr151Ter) rs1603437254
NM_004006.3(DMD):c.4591C>T (p.Gln1531Ter) rs1557320194
NM_004006.3(DMD):c.464A>G (p.Asn155Ser) rs2148806581
NM_004006.3(DMD):c.4660G>T (p.Glu1554Ter) rs1216000876
NM_004006.3(DMD):c.4684A>T (p.Arg1562Ter) rs771425504
NM_004006.3(DMD):c.4686_4689del (p.Arg1562fs) rs1603632119
NM_004006.3(DMD):c.4693C>T (p.Gln1565Ter) rs1603632117
NM_004006.3(DMD):c.4723A>T (p.Lys1575Ter) rs2147472174
NM_004006.3(DMD):c.474C>A (p.Asn158Lys) rs1324314201
NM_004006.3(DMD):c.4786A>T (p.Lys1596Ter) rs2147470742
NM_004006.3(DMD):c.4786_4787del (p.Lys1596fs) rs1569560475
NM_004006.3(DMD):c.479CCA[1] (p.Thr161del) rs1569528101
NM_004006.3(DMD):c.4860_4861del (p.Glu1620fs) rs1603631756
NM_004006.3(DMD):c.4872_4873del (p.Lys1625fs) rs2147261153
NM_004006.3(DMD):c.4980G>A (p.Trp1660Ter) rs1603631752
NM_004006.3(DMD):c.4996C>T (p.Arg1666Ter) rs398123973
NM_004006.3(DMD):c.5026-2A>G rs1569559849
NM_004006.3(DMD):c.5056C>T (p.Gln1686Ter) rs1603631744
NM_004006.3(DMD):c.5078del (p.Lys1693fs) rs2147253701
NM_004006.3(DMD):c.5131del (p.Gln1711fs) rs2147252708
NM_004006.3(DMD):c.5167G>T (p.Glu1723Ter) rs1603631705
NM_004006.3(DMD):c.5255T>G (p.Leu1752Ter) rs373428963
NM_004006.3(DMD):c.531-10T>A rs747522183
NM_004006.3(DMD):c.531-1G>C rs1569526579
NM_004006.3(DMD):c.5326-11_5326-7dup rs398123988
NM_004006.3(DMD):c.5358del (p.Phe1786fs) rs1603631368
NM_004006.3(DMD):c.5371C>T (p.Gln1791Ter) rs1569559204
NM_004006.3(DMD):c.5376del (p.Lys1792fs) rs1603631367
NM_004006.3(DMD):c.53del (p.Lys18fs) rs1602766531
NM_004006.3(DMD):c.5526_5529del (p.Arg1842fs) rs2147031776
NM_004006.3(DMD):c.5563C>T (p.Gln1855Ter) rs1569559097
NM_004006.3(DMD):c.5636G>A (p.Trp1879Ter) rs1603631244
NM_004006.3(DMD):c.5689G>T (p.Glu1897Ter) rs1603631240
NM_004006.3(DMD):c.5689dup (p.Glu1897fs) rs1603631241
NM_004006.3(DMD):c.5693A>G (p.Lys1898Arg) rs794727662
NM_004006.3(DMD):c.5697dup (p.Leu1900fs) rs794727661
NM_004006.3(DMD):c.572C>A (p.Ser191Ter) rs794727863
NM_004006.3(DMD):c.5740-1G>T rs2148813707
NM_004006.3(DMD):c.574_577del (p.Ala192fs) rs2148751467
NM_004006.3(DMD):c.5821dup (p.Ala1941fs) rs1603631225
NM_004006.3(DMD):c.589G>T (p.Glu197Ter) rs1340365803
NM_004006.3(DMD):c.58del (p.Thr20fs) rs1602766499
NM_004006.3(DMD):c.6000T>A (p.Tyr2000Ter) rs398124002
NM_004006.3(DMD):c.6023C>G (p.Ser2008Ter) rs1603630431
NM_004006.3(DMD):c.6151del (p.Arg2051fs) rs1603629988
NM_004006.3(DMD):c.6286C>T (p.Gln2096Ter) rs2148456401
NM_004006.3(DMD):c.6300del (p.Asp2100fs) rs1603628487
NM_004006.3(DMD):c.633dup (p.Leu212fs) rs2148750700
NM_004006.3(DMD):c.6356G>A (p.Trp2119Ter) rs1603628485
NM_004006.3(DMD):c.6357G>A (p.Trp2119Ter) rs1603628483
NM_004006.3(DMD):c.635_636dup (p.Leu213fs) rs1603432059
NM_004006.3(DMD):c.6364_6365del (p.Glu2122fs) rs1603628482
NM_004006.3(DMD):c.6407G>A (p.Trp2136Ter) rs1603628479
NM_004006.3(DMD):c.6452_6459dup (p.Gln2154fs) rs2150188102
NM_004006.3(DMD):c.6514C>T (p.Gln2172Ter) rs2150187643
NM_004006.3(DMD):c.6610_6611del (p.Lys2204fs) rs863225007
NM_004006.3(DMD):c.666T>G (p.Tyr222Ter) rs1603151699
NM_004006.3(DMD):c.6754C>T (p.Gln2252Ter) rs1603615883
NM_004006.3(DMD):c.6760A>T (p.Lys2254Ter) rs201818335
NM_004006.3(DMD):c.6814G>T (p.Glu2272Ter) rs1557010214
NM_004006.3(DMD):c.6913-1G>T rs1603514271
NM_004006.3(DMD):c.6913-2A>T rs1603514272
NM_004006.3(DMD):c.693C>G (p.Tyr231Ter) rs374222301
NM_004006.3(DMD):c.6973C>T (p.Gln2325Ter) rs781054741
NM_004006.3(DMD):c.7010T>G (p.Leu2337Ter) rs2149680248
NM_004006.3(DMD):c.7027del (p.Trp2343fs) rs1603513828
NM_004006.3(DMD):c.7028G>A (p.Trp2343Ter) rs1603513817
NM_004006.3(DMD):c.7029G>A (p.Trp2343Ter) rs1603513803
NM_004006.3(DMD):c.7068del (p.Gln2356fs) rs1603513680
NM_004006.3(DMD):c.7098+1G>A rs1556962223
NM_004006.3(DMD):c.709C>T (p.Gln237Ter) rs2147605826
NM_004006.3(DMD):c.709del (p.Gln237fs) rs1603150993
NM_004006.3(DMD):c.7309+1G>C rs398124044
NM_004006.3(DMD):c.7309+1G>T rs398124044
NM_004006.3(DMD):c.7309+4del rs2149424269
NM_004006.3(DMD):c.732_733insCAAT (p.Ile245fs) rs2147605245
NM_004006.3(DMD):c.7564C>T (p.Gln2522Ter) rs1603452207
NM_004006.3(DMD):c.7660+1G>C rs1556852444
NM_004006.3(DMD):c.7661-2A>C rs1556806356
NM_004006.3(DMD):c.7661-6T>G rs2148734428
NM_004006.3(DMD):c.7705C>T (p.Gln2569Ter) rs1603445344
NM_004006.3(DMD):c.7717C>T (p.Gln2573Ter) rs1603445332
NM_004006.3(DMD):c.774dup (p.Lys259Ter) rs1603150335
NM_004006.3(DMD):c.7750C>T (p.Gln2584Ter) rs2148733515
NM_004006.3(DMD):c.7858dup (p.Ile2620fs) rs1603445283
NM_004006.3(DMD):c.7872+1G>A rs1603445278
NM_004006.3(DMD):c.7872+2T>A rs1603445277
NM_004006.3(DMD):c.799C>T (p.Gln267Ter) rs878854383
NM_004006.3(DMD):c.8027+1G>A rs1556789913
NM_004006.3(DMD):c.8027+1G>T rs1556789913
NM_004006.3(DMD):c.8028-1G>A rs2148423696
NM_004006.3(DMD):c.8145dup (p.Gln2716fs) rs1603430181
NM_004006.3(DMD):c.8146C>T (p.Gln2716Ter) rs1603430178
NM_004006.3(DMD):c.8206A>T (p.Lys2736Ter) rs2148421809
NM_004006.3(DMD):c.822T>A (p.Tyr274Ter) rs1603149954
NM_004006.3(DMD):c.8278C>T (p.Gln2760Ter) rs1603280796
NM_004006.3(DMD):c.8299G>T (p.Glu2767Ter) rs1603280745
NM_004006.3(DMD):c.8313_8316dup (p.Val2773fs) rs2147176325
NM_004006.3(DMD):c.8326del (p.Gln2776fs) rs1603280686
NM_004006.3(DMD):c.8391-1G>A rs1603264731
NM_004006.3(DMD):c.839del (p.Val280fs) rs1603137168
NM_004006.3(DMD):c.8417del (p.Gln2806fs) rs1603264705
NM_004006.3(DMD):c.8446G>T (p.Glu2816Ter) rs2147075923
NM_004006.3(DMD):c.8451del (p.Leu2818fs) rs1603264659
NM_004006.3(DMD):c.8460G>A (p.Trp2820Ter) rs1603264641
NM_004006.3(DMD):c.8569del (p.Thr2857fs) rs1603226023
NM_004006.3(DMD):c.857dup (p.Tyr286Ter) rs1556929259
NM_004006.3(DMD):c.8668+138G>A rs1603225135
NM_004006.3(DMD):c.8669-2A>T rs794727770
NM_004006.3(DMD):c.8707C>T (p.Leu2903Phe) rs1040153805
NM_004006.3(DMD):c.8731del (p.Val2911fs) rs1603223025
NM_004006.3(DMD):c.8744G>A (p.Trp2915Ter) rs1603222922
NM_004006.3(DMD):c.8746del (p.Glu2916fs) rs1603222897
NM_004006.3(DMD):c.875C>G (p.Pro292Arg) rs915965687
NM_004006.3(DMD):c.8797del (p.Glu2934fs) rs1603222574
NM_004006.3(DMD):c.8817del (p.Gln2940fs) rs1603222424
NM_004006.3(DMD):c.8923del (p.Leu2975fs) rs1603221854
NM_004006.3(DMD):c.8937+1G>C rs1556656077
NM_004006.3(DMD):c.9022C>T (p.Gln3008Ter) rs1602937974
NM_004006.3(DMD):c.9085_9086insA (p.Val3029fs) rs1602056443
NM_004006.3(DMD):c.9109C>T (p.Gln3037Ter) rs2148492200
NM_004006.3(DMD):c.9189_9190del (p.Arg3063fs) rs1601864055
NM_004006.3(DMD):c.9194_9201del (p.Ile3065fs) rs2148296981
NM_004006.3(DMD):c.9225-285A>G rs587776747
NM_004006.3(DMD):c.9249G>A (p.Trp3083Ter) rs2147649257
NM_004006.3(DMD):c.9269_9270del (p.Glu3090fs) rs1603253563
NM_004006.3(DMD):c.9281_9286+2del rs2147648412
NM_004006.3(DMD):c.9283_9284del (p.Leu3095fs) rs2147648529
NM_004006.3(DMD):c.9287-1G>A rs2147071925
NM_004006.3(DMD):c.93+1G>T rs886042604
NM_004006.3(DMD):c.9344del (p.Leu3115fs) rs1602947628
NM_004006.3(DMD):c.9362-1G>C rs2148593122
NM_004006.3(DMD):c.9380C>A (p.Ser3127Ter) rs1602730254
NM_004006.3(DMD):c.93_93+14del rs1602765633
NM_004006.3(DMD):c.94-1G>T rs863225016
NM_004006.3(DMD):c.94-2A>T rs1603448428
NM_004006.3(DMD):c.9433A>G (p.Met3145Val) rs775080631
NM_004006.3(DMD):c.9487C>T (p.Gln3163Ter) rs2148591514
NM_004006.3(DMD):c.9563+1G>A rs886043989
NM_004006.3(DMD):c.9563+1G>T rs886043989
NM_004006.3(DMD):c.9564-2A>G rs1602696519
NM_004006.3(DMD):c.9564-536A>C rs918777788
NM_004006.3(DMD):c.961-1G>A rs1602469384
NM_004006.3(DMD):c.961-5831C>T rs398124099
NM_004006.3(DMD):c.9638_9642del (p.Asp3213fs) rs2148564018
NM_004006.3(DMD):c.9647_9648del (p.Arg3216fs) rs2148563899
NM_004006.3(DMD):c.9649+2dup rs1602695597
NM_004006.3(DMD):c.9649+5G>C rs1602695527
NM_004006.3(DMD):c.971del (p.Ala324fs) rs1602469251
NM_004006.3(DMD):c.9730del (p.Ile3244fs) rs1602669026
NM_004006.3(DMD):c.9748G>A (p.Glu3250Lys) rs1602668870
NM_004006.3(DMD):c.9767del (p.Gly3256fs) rs398124103
NM_004006.3(DMD):c.9808-2A>G rs1602456486
NM_004006.3(DMD):c.9808-2A>T rs1602456486
NM_004006.3(DMD):c.9853dup (p.Met3285fs) rs2148335170
NM_004006.3(DMD):c.9868del (p.Gln3290fs) rs1602455747
NM_004006.3(DMD):c.9887_9908del (p.Pro3296fs) rs1602455302
NM_004006.3(DMD):c.9906del (p.Ala3303fs) rs2148334397
NM_004006.3(DMD):c.9950_9951del (p.Lys3317fs) rs1602454747
NM_004006.3(DMD):c.9959C>T (p.Pro3320Leu) rs1602454639
NM_004006.3(DMD):c.9971dup (p.Arg3325fs) rs1602454605
NM_004006.3(DMD):c.9974+2T>C rs2148333619
NM_004006.3(DMD):c.998C>A (p.Ser333Ter) rs1602468968
NM_004035.7(ACOX1):c.280C>T (p.Arg94Ter) rs780675610
NM_004035.7(ACOX1):c.710A>G (p.Asn237Ser) rs1567876984
NM_004048.4(B2M):c.286G>A (p.Asp96Asn) rs398122820
NM_004064.5(CDKN1B):c.*163T>G rs1592282711
NM_004064.5(CDKN1B):c.-31AG[1] rs774454456
NM_004064.5(CDKN1B):c.476-5C>G rs370509436
NM_004085.4(TIMM8A):c.127T>C (p.Cys43Arg) rs1602996815
NM_004085.4(TIMM8A):c.181del (p.Ala61fs) rs2147416123
NM_004092.4(ECHS1):c.123_124del (p.Gly42fs) rs746519257
NM_004092.4(ECHS1):c.1A>T (p.Met1Leu) rs753557738
NM_004092.4(ECHS1):c.250G>A (p.Ala84Thr) rs2133443188
NM_004092.4(ECHS1):c.457T>A (p.Tyr153Asn) rs2133441975
NM_004092.4(ECHS1):c.563C>T (p.Ala188Val) rs1164154836
NM_004092.4(ECHS1):c.637T>C (p.Cys213Arg) rs1589880497
NM_004168.4(SDHA):c.1549A>G (p.Lys517Glu) rs786205210
NM_004168.4(SDHA):c.622-7C>T rs759371428
NM_004171.4(SLC1A2):c.1092-6T>C rs2134719255
NM_004172.5(SLC1A3):c.664G>T (p.Glu222Ter) rs1382977672
NM_004172.5(SLC1A3):c.745T>G (p.Phe249Val) rs547834086
NM_004183.4(BEST1):c.172C>G (p.Gln58Glu) rs1591280478
NM_004183.4(BEST1):c.737G>A (p.Ser246Asn) rs2134444981
NM_004187.5(KDM5C):c.807del (p.Thr270fs) rs1569278313
NM_004187.5(KDM5C):c.80C>T (p.Pro27Leu) rs2146978491
NM_004187.5(KDM5C):c.994C>T (p.Arg332Ter) rs2146934865
NM_004187.5(KDM5C):c.997G>C (p.Gly333Arg) rs2146934832
NM_004208.4(AIFM1):c.1241T>C (p.Ile414Thr) rs1603222490
NM_004211.5(SLC6A5):c.1486AAC[1] (p.Asn497del) rs2133800193
NM_004247.4(EFTUD2):c.882del (p.Asp295fs) rs1597807512
NM_004260.4(RECQL4):c.2518del (p.Leu840fs) rs2130673117
NM_004273.5(CHST3):c.141-1G>C rs2131773933
NM_004304.5(ALK):c.2073C>G (p.Ser691Arg) rs370435082
NM_004304.5(ALK):c.4487G>A (p.Arg1496Lys) rs2148138148
NM_004316.4(ASCL1):c.121G>T (p.Ala41Ser) rs545982257
NM_004316.4(ASCL1):c.151CAG[10] (p.Gln61_Gln62del) rs3832799
NM_004329.3(BMPR1A):c.541A>G (p.Lys181Glu) rs2133543692
NM_004329.3(BMPR1A):c.583C>T (p.Gln195Ter) rs771910503
NM_004333.6(BRAF):c.1310G>A (p.Arg437Gln) rs998233805
NM_004333.6(BRAF):c.1591T>C (p.Trp531Arg) rs2129018408
NM_004333.6(BRAF):c.1750C>T (p.Leu584Phe) rs1586015221
NM_004333.6(BRAF):c.1783T>C (p.Phe595Leu) rs794729219
NM_004333.6(BRAF):c.2128-28dup rs60814637
NM_004333.6(BRAF):c.2134G>A (p.Ala712Thr) rs1481562268
NM_004333.6(BRAF):c.2276G>A (p.Gly759Glu) rs1585930903
NM_004333.6(BRAF):c.644C>T (p.Ser215Phe) rs1586237312
NM_004333.6(BRAF):c.770A>G (p.Gln257Arg) rs180177035
NM_004333.6(BRAF):c.779G>A (p.Arg260His) rs1586213318
NM_004341.5(CAD):c.571C>T (p.Arg191Ter) rs1572423883
NM_004360.5(CDH1):c.*179G>T rs1596977076
NM_004360.5(CDH1):c.*780del rs968192426
NM_004360.5(CDH1):c.-57C>T rs981792194
NM_004360.5(CDH1):c.1008+8G>T rs990193541
NM_004360.5(CDH1):c.1009-1G>C rs1597894632
NM_004360.5(CDH1):c.1264C>A (p.Gln422Lys) rs2152133566
NM_004360.5(CDH1):c.1416C>T (p.Thr472=) rs139937234
NM_004360.5(CDH1):c.1468G>A (p.Glu490Lys) rs1555516147
NM_004360.5(CDH1):c.1721T>G (p.Val574Gly) rs1567512117
NM_004360.5(CDH1):c.1784C>G (p.Pro595Arg) rs1555516843
NM_004360.5(CDH1):c.1937-4C>T rs1057523153
NM_004360.5(CDH1):c.1A>G (p.Met1Val) rs1555509622
NM_004360.5(CDH1):c.2098C>G (p.Pro700Ala) rs878854681
NM_004360.5(CDH1):c.2137_2146dup (p.Gly716fs) rs2152139643
NM_004360.5(CDH1):c.2204C>A (p.Ala735Glu) rs587782464
NM_004360.5(CDH1):c.2293C>T (p.Gln765Ter) rs876658575
NM_004360.5(CDH1):c.2439+1G>T rs1567516230
NM_004360.5(CDH1):c.2467A>G (p.Thr823Ala) rs878854686
NM_004360.5(CDH1):c.2518T>C (p.Ser840Pro) rs1555518243
NM_004360.5(CDH1):c.2560G>A (p.Asp854Asn) rs1555518257
NM_004360.5(CDH1):c.29C>A (p.Ala10Glu) rs1375360857
NM_004360.5(CDH1):c.32T>G (p.Leu11Arg) rs1393903966
NM_004360.5(CDH1):c.32TGC[4] (p.Leu15del) rs587782476
NM_004360.5(CDH1):c.417G>C (p.Leu139Phe) rs1057521858
NM_004360.5(CDH1):c.48+1G>A rs1440280370
NM_004360.5(CDH1):c.687+56del rs771109236
NM_004360.5(CDH1):c.778C>T (p.Pro260Ser) rs1567505715
NM_004360.5(CDH1):c.820G>A (p.Gly274Ser) rs781513008
NM_004360.5(CDH1):c.949T>C (p.Phe317Leu) rs1555515643
NM_004360.5(CDH1):c.976A>G (p.Ile326Val) rs1567506764
NM_004364.5(CEBPA):c.31C>A (p.Pro11Thr) rs1555742325
NM_004369.3(COL6A3):c.[6064-5G>A];[6859delC]
NM_004369.4(COL6A3):c.1393C>T (p.Arg465Ter) rs121434554
NM_004369.4(COL6A3):c.6215_6225del (p.Glu2072fs) rs1574976615
NM_004369.4(COL6A3):c.6309G>C (p.Lys2103Asn) rs1574975196
NM_004371.4(COPA):c.3171C>A (p.Cys1057Ter) rs2101820512
NM_004380.3(CREBBP):c.1574-4A>T rs2141248432
NM_004380.3(CREBBP):c.1694del (p.Gly565fs) rs1596916327
NM_004380.3(CREBBP):c.2383_2400dup (p.Pro795_Pro800dup) rs1596895167
NM_004380.3(CREBBP):c.283G>A (p.Val95Met) rs756802946
NM_004380.3(CREBBP):c.3982+3A>T rs1596823180
NM_004380.3(CREBBP):c.5169C>G (p.Cys1723Trp) rs146718571
NM_004380.3(CREBBP):c.5555_5575del (p.Gln1852_Arg1858del) rs2151309803
NM_004380.3(CREBBP):c.712G>C (p.Val238Leu) rs146887252
NM_004385.5(VCAN):c.9265+1G>T rs80356553
NM_004397.6(DDX6):c.1031C>G (p.Ser344Cys) rs2137424033
NM_004403.3(GSDME):c.781C>T (p.Arg261Ter) rs200205042
NM_004408.4(DNM1):c.112G>A (p.Gly38Ser) rs1131692025
NM_004408.4(DNM1):c.1867_1873del (p.Ala623fs) rs2131287870
NM_004408.4(DNM1):c.985C>G (p.Leu329Val) rs868772525
NM_004415.4(DSP):c.1234C>T (p.Gln412Ter) rs1758912749
NM_004415.4(DSP):c.3891_3894dup (p.Met1299fs) rs1581816570
NM_004429.5(EFNB1):c.473T>G (p.Met158Arg) rs2147976769
NM_004453.4(ETFDH):c.1082A>G (p.Tyr361Cys) rs2150312299
NM_004453.4(ETFDH):c.1106G>C (p.Gly369Ala) rs754418186
NM_004453.4(ETFDH):c.1388G>A (p.Gly463Asp) rs1561251388
NM_004453.4(ETFDH):c.1547T>C (p.Phe516Ser) rs1580423432
NM_004453.4(ETFDH):c.1648_1649del (p.Leu550fs) rs1469053638
NM_004453.4(ETFDH):c.463A>G (p.Arg155Gly) rs549150456
NM_004453.4(ETFDH):c.684+2T>G rs1580406119
NM_004461.3(FARSA):c.812G>A (p.Arg271His) rs375272364
NM_004463.3(FGD1):c.1452G>A (p.Trp484Ter) rs1601953661
NM_004463.3(FGD1):c.1843-1G>A rs1601950553
NM_004463.3(FGD1):c.386G>A (p.Gly129Asp) rs910374883
NM_004463.3(FGD1):c.437A>G (p.Gln146Arg) rs1029761293
NM_004484.4(GPC3):c.338-5del rs370737647
NM_004519.4(KCNQ3):c.1720C>T (p.Pro574Ser) rs74582884
NM_004519.4(KCNQ3):c.688C>T (p.Arg230Cys) rs796052676
NM_004519.4(KCNQ3):c.977C>A (p.Thr326Lys) rs1326172406
NM_004522.3(KIF5C):c.709G>A (p.Glu237Lys) rs587777570
NM_004523.4(KIF11):c.1435G>C (p.Glu479Gln) rs547554309
NM_004523.4(KIF11):c.2782C>T (p.Gln928Ter) rs1589608594
NM_004530.6(MMP2):c.691G>T (p.Glu231Ter) rs1168427805
NM_004563.4(PCK2):c.460_461insCTGTGGATGAGAG (p.Gly154fs) rs771187723
NM_004577.4(PSPH):c.81A>T (p.Arg27Ser) rs74445297
NM_004577.4(PSPH):c.95A>G (p.Asp32Gly) rs78599516
NM_004586.3(RPS6KA3):c.1740del (p.Cys579_Tyr580insTer) rs2148643497
NM_004586.3(RPS6KA3):c.243+1G>A rs1603428228
NM_004586.3(RPS6KA3):c.748G>A (p.Asp250Asn) rs1603425338
NM_004606.5(TAF1):c.1207T>G (p.Phe403Val) rs2033670961
NM_004606.5(TAF1):c.1312C>T (p.Leu438Phe) rs2148243773
NM_004614.5(TK2):c.414C>A (p.Ser138Arg) rs773566302
NM_004614.5(TK2):c.557C>G (p.Pro186Arg)
NM_004614.5(TK2):c.692C>T (p.Pro231Leu) rs2144339570
NM_004628.5(XPC):c.2348C>T (p.Ala783Val)
NM_004628.5(XPC):c.90GGA[4] (p.Glu34del) rs750450365
NM_004629.2(FANCG):c.770G>A (p.Arg257His) rs372234656
NM_004643.3(PABPN1):c.3GGC[10] (p.Ala9_Ala11dup) rs193922941
NM_004643.3(PABPN1):c.3GGC[11] (p.Ala11_Gly12insAlaAlaAlaAla) rs193922941
NM_004643.4(PABPN1):c.15_26dup (p.Ala8_Ala11dup) rs1594987281
NM_004646.4(NPHS1):c.2126T>G (p.Val709Gly) rs386833902
NM_004646.4(NPHS1):c.3286+1G>A rs1599835856
NM_004646.4(NPHS1):c.515_517del (p.Thr172del) rs386833947
NM_004655.4(AXIN2):c.727C>G (p.Leu243Val) rs1060502152
NM_004655.4(AXIN2):c.750G>T (p.Leu250Phe) rs1060502149
NM_004656.4(BAP1):c.1321C>T (p.Gln441Ter) rs1559587104
NM_004656.4(BAP1):c.1651C>G (p.Arg551Gly) rs755664216
NM_004656.4(BAP1):c.2149C>T (p.Arg717Trp) rs1451498951
NM_004656.4(BAP1):c.2162C>G (p.Ser721Cys) rs1553644521
NM_004697.4(PRPF4):c.-114_-97del rs541873609
NM_004698.4(PRPF3):c.-48-2A>T rs782747350
NM_004700.4(KCNQ4):c.140T>C (p.Leu47Pro) rs1271250198
NM_004715.5(CTDP1):c.2418-207_2418-165dup rs147933855
NM_004738.5(VAPB):c.166C>T (p.Pro56Ser) rs74315431
NM_004744.5(LRAT):c.298G>A (p.Gly100Ser) rs1035206645
NM_004744.5(LRAT):c.346T>C (p.Phe116Leu) rs1578860322
NM_004761.5(RGL2):c.608dup (p.Ser204fs) rs762949421
NM_004795.4(KL):c.2702-59dup rs34137141
NM_004807.3(HS6ST1):c.1112G>A (p.Arg371His) rs147436494
NM_004807.3(HS6ST1):c.261C>A (p.Asp87Glu) rs200979099
NM_004807.3(HS6ST1):c.745C>A (p.Arg249Ser) rs3958533
NM_004822.3(NTN1):c.486C>G (p.Tyr162Ter) rs1451966463
NM_004826.4(ECEL1):c.557C>G (p.Ser186Trp) rs1176131791
NM_004836.7(EIF2AK3):c.40CTG[7] (p.Leu21del) rs1805190
NM_004859.4(CLTC):c.2023A>G (p.Ile675Val) rs2143556646
NM_004859.4(CLTC):c.3386T>G (p.Ile1129Ser) rs1443421262
NM_004859.4(CLTC):c.3765+1G>A rs2143594831
NM_004859.4(CLTC):c.3765+3A>C rs2143594841
NM_004863.4(SPTLC2):c.545C>T (p.Ala182Val) rs2140039094
NM_004933.3(CDH15):c.1999_2004del (p.Tyr667_Asp668del) rs749690403
NM_004933.3(CDH15):c.767A>T (p.Asn256Ile) rs756845157
NM_004937.3(CTNS):c.382C>T (p.Gln128Ter) rs550254092
NM_004946.3(DOCK2):c.1606A>G (p.Lys536Glu) rs1581078478
NM_004946.3(DOCK2):c.169-72G>C rs2306564
NM_004946.3(DOCK2):c.3484G>A (p.Ala1162Thr) rs1581543762
NM_004947.5(DOCK3):c.162+5T>G rs1316299898
NM_004958.4(MTOR):c.4298T>C (p.Leu1433Ser) rs2100609915
NM_004960.4(FUS):c.1540A>T (p.Arg514Trp) rs1555509609
NM_004960.4(FUS):c.1542-1G>T rs1596914113
NM_004960.4(FUS):c.518_523del
NM_004963.4(GUCY2C):c.2155G>C (p.Glu719Gln) rs895214647
NM_004963.4(GUCY2C):c.949-5T>G rs1403237949
NM_004970.3(IGFALS):c.958C>T (p.Gln320Ter) rs768231769
NM_004972.4(JAK2):c.3269G>A (p.Arg1090Lys) rs780942191
NM_004973.4(JARID2):c.2731+5G>A rs2127756209
NM_004974.4(KCNA2):c.1118C>T (p.Thr373Ile) rs1553181282
NM_004974.4(KCNA2):c.1120A>G (p.Thr374Ala) rs1553181280
NM_004974.4(KCNA2):c.409G>A (p.Glu137Lys) rs2101402116
NM_004975.4(KCNB1):c.1220T>C (p.Leu407Pro) rs2146813611
NM_004975.4(KCNB1):c.1303G>C (p.Ala435Pro) rs2146813509
NM_004975.4(KCNB1):c.1747C>T (p.Arg583Ter) rs781663444
NM_004975.4(KCNB1):c.2396G>A (p.Ser799Asn) rs1256695300
NM_004975.4(KCNB1):c.595A>T (p.Ile199Phe) rs1601072041
NM_004975.4(KCNB1):c.814C>T (p.Pro272Ser) rs1601071747
NM_004975.4(KCNB1):c.877C>T (p.Arg293Cys) rs1984264748
NM_004975.4(KCNB1):c.956C>T (p.Ser319Phe) rs1984259606
NM_004977.3(KCNC3):c.1583T>G (p.Val528Gly) rs1601098237
NM_004977.3(KCNC3):c.1737ACCCCCGCC[1] (p.Pro583_Pro585del) rs747618525
NM_004984.4(KIF5A):c.1727T>A (p.Ile576Asn) rs2140167372
NM_004990.4(MARS1):c.1148C>G (p.Thr383Ser) rs1594821285
NM_004990.4(MARS1):c.1244G>T (p.Gly415Val) rs1594821386
NM_004994.3(MMP9):c.1721G>C (p.Arg574Pro) rs2250889
NM_004995.4(MMP14):c.542T>C (p.Phe181Ser) rs1595014702
NM_004999.4(MYO6):c.2751dup (p.Gln918fs) rs551348450
NM_005002.5(NDUFA9):c.224G>T (p.Arg75Leu) rs35263902
NM_005006.7(NDUFS1):c.1393-7_1393-3del rs1559047521
NM_005006.7(NDUFS1):c.154-126TAGA[8] rs3217140
NM_005006.7(NDUFS1):c.154-126TAGA[9] rs3217140
NM_005006.7(NDUFS1):c.518T>G (p.Met173Arg) rs747249702
NM_005006.7(NDUFS1):c.689C>A (p.Ala230Asp) rs1575984450
NM_005032.7(PLS3):c.514del (p.Leu172fs) rs1603241972
NM_005052.3(RAC3):c.176C>G (p.Ala59Gly) rs1379395211
NM_005094.4(SLC27A4):c.1065del (p.Arg356fs) rs777972512
NM_005094.4(SLC27A4):c.1799_1800del (p.Glu600fs) rs758657421
NM_005105.5(RBM8A):c.-19G>A rs760383043
NM_005105.5(RBM8A):c.67+34G>C rs1553756157
NM_005120.3(MED12):c.1248+3A>G rs2147782173
NM_005120.3(MED12):c.224G>C (p.Ser75Thr) rs867655376
NM_005120.3(MED12):c.4254-5T>A rs2092319756
NM_005120.3(MED12):c.4416-77CTCTT[14] rs56658066
NM_005120.3(MED12):c.5041A>G (p.Thr1681Ala) rs2147825903
NM_005159.5(ACTC1):c.894C>G (p.Asn298Lys) rs863225303
NM_005188.4(CBL):c.1222T>C (p.Trp408Arg) rs755557498
NM_005188.4(CBL):c.1439G>A (p.Arg480Gln) rs1949969239
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_005215.4(DCC):c.3703A>C (p.Met1235Leu) rs1284447482
NM_005219.5(DIAPH1):c.3152C>T (p.Ser1051Phe) rs868531732
NM_005219.5(DIAPH1):c.3157G>T (p.Glu1053Ter) rs1003389476
NM_005219.5(DIAPH1):c.3706G>T (p.Glu1236Ter) rs772429379
NM_005228.5(EGFR):c.-106G>A rs895139219
NM_005228.5(EGFR):c.1230del (p.Trp410fs) rs2128939635
NM_005228.5(EGFR):c.1472T>C (p.Ile491Thr) rs1584190119
NM_005228.5(EGFR):c.1916A>C (p.Asn639Thr) rs952307505
NM_005228.5(EGFR):c.1920-100A>G rs1584221726
NM_005228.5(EGFR):c.1951G>A (p.Val651Met) rs1562783502
NM_005228.5(EGFR):c.2407C>T (p.Arg803Trp) rs1215679186
NM_005228.5(EGFR):c.2469+8G>A rs760763801
NM_005228.5(EGFR):c.2485G>C (p.Glu829Gln) rs1489158055
NM_005228.5(EGFR):c.2573T>G (p.Leu858Arg) rs121434568
NM_005228.5(EGFR):c.2896A>G (p.Ile966Val) rs1383485737
NM_005228.5(EGFR):c.2995C>T (p.Arg999Cys) rs866928399
NM_005228.5(EGFR):c.3245T>G (p.Ile1082Arg) rs1051476261
NM_005228.5(EGFR):c.3320A>G (p.Asn1107Ser) rs918187279
NM_005228.5(EGFR):c.3403A>T (p.Asn1135Tyr) rs2128975298
NM_005228.5(EGFR):c.3538_3541del (p.Glu1180fs) rs781064539
NM_005228.5(EGFR):c.509G>A (p.Ser170Asn) rs758945260
NM_005228.5(EGFR):c.551T>A (p.Leu184Gln) rs921852102
NM_005228.5(EGFR):c.551T>C (p.Leu184Pro) rs921852102
NM_005228.5(EGFR):c.797C>A (p.Pro266Gln) rs17336639
NM_005235.3(ERBB4):c.2207T>A (p.Ile736Asn) rs1574867228
NM_005236.3(ERCC4):c.1102+36dup rs761458435
NM_005245.4(FAT1):c.3770G>A (p.Arg1257Gln) rs188188069
NM_005247.4(FGF3):c.509G>A (p.Arg170His) rs782801923
NM_005249.5(FOXG1):c.321GCCACC[1] (p.Pro111_Pro112del) rs796052475
NM_005249.5(FOXG1):c.430G>A (p.Glu144Lys) rs797045583
NM_005249.5(FOXG1):c.485dup (p.Gly163fs) rs2138660968
NM_005249.5(FOXG1):c.688C>T (p.Arg230Cys) rs1594383704
NM_005249.5(FOXG1):c.85del (p.Gln29fs) rs1594382746
NM_005263.5(GFI1):c.-100+686C>A rs1018517928
NM_005267.5(GJA8):c.718del (p.Pro239_Val240insTer) rs2149016066
NM_005271.5(GLUD1):c.1496G>C (p.Gly499Ala) rs121909734
NM_005321.3(H1-4):c.364_365del (p.Lys122fs) rs768525914
NM_005321.3(H1-4):c.396dup (p.Gly133fs) rs2113826875
NM_005321.3(H1-4):c.429_430del (p.Ala144fs) rs1131690805
NM_005327.7(HADH):c.261+1G>A rs1398546361
NM_005327.7(HADH):c.587del (p.Ser196fs) rs745727504
NM_005327.7(HADH):c.636+2_636+3insCT rs2126234552
NM_005336.6(HDLBP):c.3217G>A (p.Ala1073Thr) rs2149342588
NM_005357.4(LIPE):c.3203_3221del (p.Val1068fs) rs587777699
NM_005359.6(SMAD4):c.1409C>G (p.Pro470Arg) rs1599204186
NM_005360.5(MAF):c.-30GGC[4] rs5818251
NM_005373.3(MPL):c.1653+1del rs755257605
NM_005378.6(MYCN):c.134dup (p.Glu47fs) rs780080562
NM_005392.4(PHF2):c.325C>T (p.Pro109Ser) rs1188481995
NM_005411.5(SFTPA1):c.637C>T (p.Arg213Ter) rs369165505
NM_005413.4(SIX3):c.406_407del (p.Ala136fs) rs753473749
NM_005422.4(TECTA):c.2264dup (p.Asn755fs) rs1159210445
NM_005422.4(TECTA):c.3947G>C (p.Ser1316Thr) rs1946831915
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_005430.4(WNT1):c.1026del (p.Glu343fs) rs727505392
NM_005431.2(XRCC2):c.378_381del (p.Leu126fs) rs763401560
NM_005431.2(XRCC2):c.574T>C (p.Phe192Leu) rs1563026024
NM_005431.2(XRCC2):c.679C>G (p.Leu227Val) rs1384417628
NM_005431.2(XRCC2):c.698A>T (p.Gln233Leu) rs946075316
NM_005431.2(XRCC2):c.794T>C (p.Leu265Ser) rs771671971
NM_005445.4(SMC3):c.1417T>C (p.Trp473Arg) rs1861180567
NM_005445.4(SMC3):c.2044G>A (p.Val682Ile) rs2134745322
NM_005445.4(SMC3):c.2215A>G (p.Met739Val) rs1590567950
NM_005445.4(SMC3):c.932A>G (p.Asp311Gly) rs1590556378
NM_005448.2(BMP15):c.13A>C (p.Ser5Arg) rs113099187
NM_005448.2(BMP15):c.661T>C (p.Trp221Arg) rs375284458
NM_005458.8(GABBR2):c.33GCC[5] (p.Pro20del) rs751111546
NM_005461.5(MAFB):c.185C>T (p.Thr62Ile) rs1600429262
NM_005465.7(AKT3):c.496C>T (p.Arg166Ter) rs2147812279
NM_005475.3(SH2B3):c.112G>A (p.Ala38Thr) rs2135547121
NM_005475.3(SH2B3):c.1493T>C (p.Leu498Pro)
NM_005475.3(SH2B3):c.230G>A (p.Arg77His) rs1219220572
NM_005476.7(GNE):c.2086G>A (p.Val696Met) rs121908627
NM_005476.7(GNE):c.800A>G (p.Lys267Arg) rs2133068749
NM_005477.3(HCN4):c.2804C>T (p.Ser935Phe) rs775803239
NM_005515.4(MNX1):c.562C>T (p.Gln188Ter) rs2134846165
NM_005523.6(HOXA11):c.489G>C (p.Lys163Asn) rs893792932
NM_005525.4(HSD11B1):c.331+53dup rs45487298
NM_005529.7(HSPG2):c.1654+5G>A rs1572356343
NM_005529.7(HSPG2):c.4145_4163del (p.Leu1382fs) rs1572304438
NM_005529.7(HSPG2):c.9514-1G>A rs2152704005
NM_005535.3(IL12RB1):c.1765del (p.Ala589fs) rs1476855887
NM_005559.4(LAMA1):c.2274+70dup rs113133818
NM_005562.3(LAMC2):c.1066+1del rs2102228390
NM_005591.4(MRE11):c.1927-2A>G rs587781822
NM_005609.4(PYGM):c.1732CTC[1] (p.Leu579del) rs1592409633
NM_005609.4(PYGM):c.2075_2076del (p.Thr692fs) rs1592408302
NM_005629.4(SLC6A8):c.1068C>T (p.Gly356=) rs1603216989
NM_005629.4(SLC6A8):c.1396G>A (p.Gly466Arg) rs1603217473
NM_005629.4(SLC6A8):c.980dup (p.Ser329fs) rs2148362976
NM_005633.4(SOS1):c.1653_1655del (p.Arg552del) rs1572830219
NM_005633.4(SOS1):c.1727G>T (p.Arg576Ile) rs1553356023
NM_005633.4(SOS1):c.2207T>G (p.Ile736Arg) rs1553354396
NM_005633.4(SOS1):c.416C>G (p.Ala139Gly) rs1671229011
NM_005634.3(SOX3):c.14G>C (p.Arg5Pro) rs112180170
NM_005639.3(SYT1):c.926C>T (p.Ser309Phe) rs2136007588
NM_005647.4(TBL1X):c.1621C>T (p.His541Tyr) rs887842671
NM_005654.6(NR2F1):c.1181T>G (p.Val394Gly) rs2149946121
NM_005660.3(SLC35A2):c.128T>C (p.Leu43Pro) rs1602344901
NM_005660.3(SLC35A2):c.1A>T (p.Met1Leu) rs1042469070
NM_005660.3(SLC35A2):c.389_391del (p.Tyr130_Val131delinsPhe) rs1602340350
NM_005660.3(SLC35A2):c.520CTC[1] (p.Leu175del) rs1602338996
NM_005670.4(EPM2A):c.560C>T (p.Thr187Ile) rs1582935082
NM_005677.4(COLQ):c.1195+2T>G rs2125085333
NM_005677.4(COLQ):c.157dup (p.Leu53fs) rs971863968
NM_005687.5(FARSB):c.1408del (p.Leu470fs) rs2106209945
NM_005687.5(FARSB):c.460A>G (p.Arg154Gly) rs2106230623
NM_005720.4(ARPC1B):c.763_764del (p.Asp255fs) rs1584410808
NM_005802.5(TOPORS):c.2556_2557del (p.Glu852fs) rs527236116
NM_005802.5(TOPORS):c.2895dup (p.Cys966fs) rs1246790145
NM_005826.5(HNRNPR):c.751G>A (p.Gly251Arg) rs2148375121
NM_005842.4(SPRY2):c.506A>T (p.Glu169Val) rs1355075892
NM_005850.5(SF3B4):c.1060dup (p.Arg354fs) rs782357237
NM_005850.5(SF3B4):c.1147dup (p.His383fs) rs387907186
NM_005857.5(ZMPSTE24):c.1060-6_1085del rs1569668526
NM_005859.5(PURA):c.169G>T (p.Glu57Ter) rs2126748783
NM_005859.5(PURA):c.275G>C (p.Gly92Ala) rs2126748878
NM_005859.5(PURA):c.409G>C (p.Asp137His) rs2126749043
NM_005859.5(PURA):c.449_456del (p.Arg150fs) rs1581036405
NM_005859.5(PURA):c.486C>G (p.Asn162Lys) rs1085307826
NM_005859.5(PURA):c.512G>C (p.Arg171Pro) rs2126749179
NM_005859.5(PURA):c.563T>C (p.Ile188Thr) rs793888527
NM_005859.5(PURA):c.614T>C (p.Leu205Pro) rs1581036537
NM_005859.5(PURA):c.629del (p.Gly210fs) rs2126749287
NM_005859.5(PURA):c.715A>T (p.Lys239Ter) rs2126749353
NM_005862.3(STAG1):c.260del (p.Leu87fs) rs1576656734
NM_005901.6(SMAD2):c.908C>G (p.Thr303Arg) rs2144300077
NM_005902.4(SMAD3):c.1094A>T (p.Gln365Leu) rs1595962708
NM_005921.2(MAP3K1):c.1846G>A (p.Gly616Arg) rs143853590
NM_005921.2(MAP3K1):c.5CGG[5] (p.Ala5dup) rs779149827
NM_005957.5(MTHFR):c.233C>G (p.Ser78Ter) rs776969786
NM_005994.4(TBX2):c.1160C>T (p.Pro387Leu) rs1603241604
NM_006005.3(WFS1):c.1294C>G (p.Leu432Val) rs35031397
NM_006005.3(WFS1):c.1829del (p.Leu610fs) rs1578611240
NM_006005.3(WFS1):c.2113A>G (p.Lys705Glu) rs2109127017
NM_006009.4(TUBA1A):c.1226T>C (p.Val409Ala) rs797045005
NM_006009.4(TUBA1A):c.1261G>A (p.Ala421Thr) rs1592259391
NM_006013.5(RPL10):c.24-13C>T rs2067975238
NM_006015.6(ARID1A):c.3169T>C (p.Ser1057Pro) rs2124087634
NM_006015.6(ARID1A):c.3926T>A (p.Leu1309His) rs2124113018
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.5015T>G (p.Val1672Gly) rs749291779
NM_006015.6(ARID1A):c.5438C>T (p.Pro1813Leu) rs1373371414
NM_006015.6(ARID1A):c.6196A>T (p.Asn2066Tyr) rs1570622663
NM_006017.3(PROM1):c.1354dup (p.Tyr452fs) rs543698823
NM_006017.3(PROM1):c.436C>T (p.Arg146Ter) rs780697796
NM_006017.3(PROM1):c.784+1G>A rs745704627
NM_006017.3(PROM1):c.869del (p.Ser290fs) rs1355802816
NM_006019.4(TCIRG1):c.504-6C>A rs1028394725
NM_006070.6(TFG):c.854C>T (p.Pro285Leu) rs207482230
NM_006073.4(TRDN):c.1313T>G (p.Ile438Ser) rs2873479
NM_006079.5(CITED2):c.114CCA[1] (p.His39del) rs749590293
NM_006079.5(CITED2):c.574_579del (p.Ser192_Gly193del) rs751501072
NM_006087.4(TUBB4A):c.538G>A (p.Val180Met) rs1064797231
NM_006087.4(TUBB4A):c.730G>C (p.Gly244Arg) rs886041007
NM_006088.6(TUBB4B):c.19T>G (p.Leu7Val) rs774947647
NM_006121.4(KRT1):c.564C>A (p.Asn188Lys) rs59429455
NM_006147.4(IRF6):c.1210G>A (p.Glu404Lys) rs769068305
NM_006158.5(NEFL):c.506dup (p.Thr170fs) rs2117255104
NM_006158.5(NEFL):c.54C>G (p.Tyr18Ter) rs1431523432
NM_006160.4(NEUROD2):c.1116G>T (p.Met372Ile) rs1395506484
NM_006160.4(NEUROD2):c.734G>C (p.Arg245Pro) rs2144811954
NM_006180.6(NTRK2):c.1195+7A>T rs949522665
NM_006186.4(NR4A2):c.327dup (p.Ser110fs) rs1553456695
NM_006186.4(NR4A2):c.896G>T (p.Cys299Phe) rs2105605264
NM_006204.4(PDE6C):c.2192G>A (p.Trp731Ter) rs1589705946
NM_006204.4(PDE6C):c.724-11C>G rs2058448484
NM_006206.6(PDGFRA):c.451C>T (p.Arg151Cys) rs1449637193
NM_006208.3(ENPP1):c.1366C>T (p.Arg456Ter) rs1258544339
NM_006208.3(ENPP1):c.1565+1G>T rs2114715547
NM_006218.4(PIK3CA):c.1139A>T (p.Asn380Ile) rs202013300
NM_006218.4(PIK3CA):c.1321A>G (p.Met441Val) rs1427967136
NM_006218.4(PIK3CA):c.1384A>G (p.Thr462Ala) rs1242912405
NM_006218.4(PIK3CA):c.1743C>T (p.Ala581=) rs370692448
NM_006218.4(PIK3CA):c.2219G>A (p.Arg740Lys) rs1560147074
NM_006218.4(PIK3CA):c.2597T>G (p.Leu866Trp) rs1576947658
NM_006218.4(PIK3CA):c.3140A>T (p.His1047Leu) rs121913279
NM_006218.4(PIK3CA):c.500A>G (p.Tyr167Cys) rs761264437
NM_006218.4(PIK3CA):c.563G>A (p.Gly188Glu) rs1560138278
NM_006218.4(PIK3CA):c.813+4A>G rs1560138415
NM_006231.4(POLE):c.-6G>A rs534524789
NM_006231.4(POLE):c.1229G>A (p.Trp410Ter) rs2136000948
NM_006231.4(POLE):c.1264C>G (p.His422Asp) rs745356467
NM_006231.4(POLE):c.1520T>C (p.Val507Ala) rs904849438
NM_006231.4(POLE):c.2065C>T (p.Gln689Ter) rs2042846526
NM_006231.4(POLE):c.2083T>C (p.Phe695Leu) rs5744799
NM_006231.4(POLE):c.2089C>A (p.Pro697Thr) rs5744800
NM_006231.4(POLE):c.2090C>G (p.Pro697Arg) rs36120395
NM_006231.4(POLE):c.2122C>T (p.His708Tyr) rs1593791799
NM_006231.4(POLE):c.2236A>G (p.Ile746Val) rs1480527153
NM_006231.4(POLE):c.2340G>C (p.Ser780=) rs5744822
NM_006231.4(POLE):c.2559del (p.Ile853fs) rs2135958060
NM_006231.4(POLE):c.2656C>T (p.Pro886Ser) rs1393738781
NM_006231.4(POLE):c.2811C>T (p.Tyr937=) rs1593777350
NM_006231.4(POLE):c.2865-17_2865-14dup rs369732588
NM_006231.4(POLE):c.2865-3C>T rs1203095918
NM_006231.4(POLE):c.2865-3_2865del rs1593776411
NM_006231.4(POLE):c.2867A>T (p.Tyr956Phe) rs1593776406
NM_006231.4(POLE):c.2869_2870del (p.Ala957fs) rs1593776393
NM_006231.4(POLE):c.2872G>T (p.Val958Leu) rs1443635519
NM_006231.4(POLE):c.2910_2917del (p.Phe971fs) rs2138691662
NM_006231.4(POLE):c.3082G>A (p.Glu1028Lys) rs2138678777
NM_006231.4(POLE):c.3275+38_3275+88del rs1565955594
NM_006231.4(POLE):c.3539AGA[2] (p.Lys1182del) rs1555225139
NM_006231.4(POLE):c.3582+34G>A rs753702996
NM_006231.4(POLE):c.3715C>G (p.Gln1239Glu) rs1565946576
NM_006231.4(POLE):c.4204G>A (p.Val1402Met) rs767191767
NM_006231.4(POLE):c.4270G>T (p.Glu1424Ter) rs575419120
NM_006231.4(POLE):c.427A>G (p.Asn143Asp) rs889470853
NM_006231.4(POLE):c.4286C>T (p.Thr1429Ile) rs2138558151
NM_006231.4(POLE):c.4476C>G (p.His1492Gln) rs5744943
NM_006231.4(POLE):c.4522C>G (p.Arg1508Gly) rs766511597
NM_006231.4(POLE):c.4642C>T (p.Pro1548Ser) rs1555222725
NM_006231.4(POLE):c.4645C>G (p.Pro1549Ala) rs147500308
NM_006231.4(POLE):c.4754T>A (p.Ile1585Asn) rs1565937957
NM_006231.4(POLE):c.4945A>G (p.Met1649Val) rs1565937350
NM_006231.4(POLE):c.5029C>G (p.Leu1677Val) rs2138530978
NM_006231.4(POLE):c.5288A>G (p.Gln1763Arg) rs1565935906
NM_006231.4(POLE):c.5296del (p.Leu1766fs) rs2138524488
NM_006231.4(POLE):c.5494C>T (p.Leu1832Phe) rs1456049352
NM_006231.4(POLE):c.5573G>A (p.Arg1858His) rs1445288473
NM_006231.4(POLE):c.560A>G (p.Tyr187Cys) rs2043122011
NM_006231.4(POLE):c.5647G>A (p.Ala1883Thr) rs1565931961
NM_006231.4(POLE):c.5679-3C>T rs1555221512
NM_006231.4(POLE):c.5883GGA[3] (p.Glu1966del) rs757774039
NM_006231.4(POLE):c.6137-50C>T rs779908266
NM_006231.4(POLE):c.6334C>T (p.Leu2112=) rs373443211
NM_006231.4(POLE):c.654dup (p.Val219fs) rs2136020791
NM_006231.4(POLE):c.6581A>G (p.Tyr2194Cys) rs1060500872
NM_006231.4(POLE):c.6747+5G>A rs1555300791
NM_006231.4(POLE):c.6765C>T (p.Ile2255=) rs376336585
NM_006231.4(POLE):c.742T>C (p.Tyr248His) rs2136018785
NM_006231.4(POLE):c.769A>G (p.Ile257Val) rs1466704603
NM_006231.4(POLE):c.999dup (p.Val334fs) rs2043045437
NM_006236.3(POU3F3):c.1085G>T (p.Arg362Leu) rs1158292126
NM_006236.3(POU3F3):c.774del (p.Leu259fs) rs2104340694
NM_006236.3(POU3F3):c.983A>C (p.Gln328Pro) rs2104340970
NM_006245.4(PPP2R5D):c.1574C>T (p.Pro525Leu) rs1581863343
NM_006245.4(PPP2R5D):c.434A>T (p.Lys145Met) rs2150278470
NM_006245.4(PPP2R5D):c.620G>C (p.Trp207Ser) rs2150278804
NM_006245.4(PPP2R5D):c.751G>A (p.Asp251Asn) rs1762178916
NM_006260.5(DNAJC3):c.1267C>T (p.Pro423Ser) rs2139698639
NM_006260.5(DNAJC3):c.1349C>G (p.Ser450Cys) rs910275280
NM_006265.3(RAD21):c.144+1G>A rs1586275911
NM_006265.3(RAD21):c.815-17_815-5del rs35902828
NM_006267.5(RANBP2):c.1966A>G (p.Ile656Val) rs121434504
NM_006269.2(RP1):c.1234dup (p.Met412fs) rs760283610
NM_006269.2(RP1):c.2778T>A (p.Tyr926Ter) rs1585564369
NM_006280.3(SSR4):c.358_359del (p.Arg120fs) rs794729223
NM_006296.7(VRK2):c.*102_*105dup rs759217526
NM_006306.4(SMC1A):c.1964G>A (p.Gly655Glu) rs1602410098
NM_006306.4(SMC1A):c.2447G>A (p.Arg816His) rs886044819
NM_006306.4(SMC1A):c.2814dup (p.Lys939Ter) rs1602405588
NM_006306.4(SMC1A):c.3022C>T (p.Gln1008Ter) rs1602398950
NM_006306.4(SMC1A):c.411+1G>C rs2146606502
NM_006306.4(SMC1A):c.583G>T (p.Glu195Ter) rs1602413582
NM_006306.4(SMC1A):c.615+2T>C rs868985177
NM_006343.3(MERTK):c.1296+1G>C rs774577413
NM_006343.3(MERTK):c.2530C>T (p.Arg844Cys) rs746291728
NM_006343.3(MERTK):c.992_993del (p.Ser331fs) rs1573613491
NM_006363.6(SEC23B):c.998_999del (p.His332_Tyr333insTer) rs2148901002
NM_006372.5(SYNCRIP):c.700A>G (p.Ile234Val) rs2128286909
NM_006412.4(AGPAT2):c.369_372del (p.Leu124fs) rs1693228350
NM_006415.4(SPTLC1):c.112CTT[1] (p.Leu39del) rs1197928094
NM_006415.4(SPTLC1):c.1160G>C (p.Gly387Ala) rs119482084
NM_006420.3(ARFGEF2):c.1492del (p.Met498fs) rs1600623496
NM_006445.4(PRPF8):c.6991G>A (p.Glu2331Lys) rs1597223220
NM_006445.4(PRPF8):c.6994dup (p.Asp2332fs) rs1597223214
NM_006493.4(CLN5):c.188G>C (p.Arg63Pro) rs104894386
NM_006493.4(CLN5):c.371del (p.Ser124fs) rs794729218
NM_006493.4(CLN5):c.428A>G (p.Asn143Ser) rs386833975
NM_006495.4(EVI2B):c.593del (p.Asn198fs) rs765136869
NM_006502.3(POLH):c.638C>G (p.Ser213Ter) rs763654639
NM_006514.4(SCN10A):c.1246AAG[1] (p.Lys417del) rs758898721
NM_006514.4(SCN10A):c.1516C>T (p.His506Tyr) rs745555704
NM_006514.4(SCN10A):c.2248G>C (p.Gly750Arg) rs773267272
NM_006514.4(SCN10A):c.41G>T (p.Arg14Leu) rs141207048
NM_006516.4(SLC2A1):c.1135_1147del (p.Phe379fs) rs2124446490
NM_006516.4(SLC2A1):c.115-2A>C rs2124450950
NM_006516.4(SLC2A1):c.1206_1215dup (p.Val406fs) rs2124446305
NM_006516.4(SLC2A1):c.1287_1288del (p.Cys429fs) rs2124445661
NM_006516.4(SLC2A1):c.1A>G (p.Met1Val) rs2124478725
NM_006516.4(SLC2A1):c.274del (p.Arg92fs) rs1570593820
NM_006516.4(SLC2A1):c.29del (p.Gly10fs) rs2124461926
NM_006516.4(SLC2A1):c.37dup (p.Met13fs) rs2124461913
NM_006516.4(SLC2A1):c.46_47insCTCCTCA (p.Val16fs) rs1570601060
NM_006516.4(SLC2A1):c.524G>T (p.Gly175Val) rs2124449452
NM_006516.4(SLC2A1):c.557G>A (p.Trp186Ter) rs1570592933
NM_006516.4(SLC2A1):c.624del (p.Glu209fs) rs1570592844
NM_006516.4(SLC2A1):c.625G>T (p.Glu209Ter) rs1387203768
NM_006516.4(SLC2A1):c.635del (p.Arg212fs) rs2124449287
NM_006516.4(SLC2A1):c.724C>T (p.Gln242Ter) rs794729221
NM_006516.4(SLC2A1):c.739G>T (p.Glu247Ter) rs2124449015
NM_006516.4(SLC2A1):c.972G>A (p.Ser324=) rs796053254
NM_006517.5(SLC16A2):c.1262G>T (p.Gly421Val) rs1602143383
NM_006517.5(SLC16A2):c.1373del (p.Pro458fs) rs1602143432
NM_006517.5(SLC16A2):c.1388C>T (p.Pro463Leu) rs2147871919
NM_006517.5(SLC16A2):c.1468G>A (p.Gly490Arg) rs794727799
NM_006517.5(SLC16A2):c.407del (p.Asn136fs) rs1602099961
NM_006517.5(SLC16A2):c.407dup (p.Asn136fs) rs1602099961
NM_006545.5(NPRL2):c.932+1G>A rs1703621639
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_006563.5(KLF1):c.973G>A (p.Glu325Lys) rs267607201
NM_006565.4(CTCF):c.1699C>T (p.Arg567Trp) rs879255516
NM_006565.4(CTCF):c.1990C>T (p.Gln664Ter) rs200677445
NM_006565.4(CTCF):c.37T>G (p.Ser13Ala) rs1597713391
NM_006579.3(EBP):c.261C>G (p.Tyr87Ter) rs145509273
NM_006579.3(EBP):c.506_507del (p.Glu169fs) rs1602091152
NM_006579.3(EBP):c.527A>G (p.His176Arg) rs587783618
NM_006580.4(CLDN16):c.382G>C (p.Gly128Arg) rs1577430815
NM_006593.4(TBR1):c.1393A>G (p.Asn465Asp) rs890226439
NM_006593.4(TBR1):c.1547del (p.Tyr516fs) rs1574152522
NM_006618.5(KDM5B):c.2332A>C (p.Ser778Arg) rs2102236113
NM_006618.5(KDM5B):c.3100C>G (p.Pro1034Ala) rs888119055
NM_006662.3(SRCAP):c.2752A>C (p.Thr918Pro) rs756223991
NM_006662.3(SRCAP):c.4543C>A (p.Leu1515Met) rs1246765240
NM_006721.4(ADK):c.1031C>T (p.Ala344Val) rs1589387419
NM_006721.4(ADK):c.727-8del rs112610475
NM_006734.4(HIVEP2):c.5791dup (p.Thr1931fs) rs2114611687
NM_006757.4(TNNT3):c.50-9G>A rs776049768
NM_006766.5(KAT6A):c.2501A>C (p.Lys834Thr) rs2150861823
NM_006766.5(KAT6A):c.5040_5051del (p.1677_1680QQPQ[1]) rs548231613
NM_006767.4(LZTR1):c.1480A>G (p.Arg494Gly) rs2147967253
NM_006767.4(LZTR1):c.1682G>A (p.Arg561His) rs970027059
NM_006767.4(LZTR1):c.26G>C (p.Gly9Ala) rs756485244
NM_006767.4(LZTR1):c.685T>C (p.Cys229Arg) rs886041925
NM_006772.3(SYNGAP1):c.1481T>G (p.Ile494Arg) rs2151171287
NM_006772.3(SYNGAP1):c.1532-1G>C rs1760930644
NM_006772.3(SYNGAP1):c.1618C>T (p.Gln540Ter) rs1554121438
NM_006772.3(SYNGAP1):c.2387del (p.Pro796fs) rs1581995425
NM_006772.3(SYNGAP1):c.3078del (p.Asp1026fs) rs2151189924
NM_006772.3(SYNGAP1):c.3179del (p.Gly1060fs) rs1581996813
NM_006772.3(SYNGAP1):c.3386T>C (p.Leu1129Pro) rs1581997279
NM_006772.3(SYNGAP1):c.3599dup (p.Glu1201fs) rs1582001015
NM_006772.3(SYNGAP1):c.366del (p.Ala123fs) rs2151151998
NM_006772.3(SYNGAP1):c.388-2A>G rs797045012
NM_006812.4(OS9):c.993+5G>A
NM_006831.3(CLP1):c.413C>T (p.Ala138Val) rs1290439063
NM_006846.4(SPINK5):c.1089T>G (p.Tyr363Ter) rs752777832
NM_006846.4(SPINK5):c.652C>T (p.Arg218Ter) rs199757347
NM_006883.2(SHOX):c.638A>G (p.Glu213Gly) rs1215061962
NM_006885.4(ZFHX3):c.10142_10165del (p.Arg3381_Gln3388del) rs727502780
NM_006885.4(ZFHX3):c.5777dup (p.Ser1927fs) rs2143441330
NM_006885.4(ZFHX3):c.6329T>C (p.Leu2110Ser) rs1220435409
NM_006885.4(ZFHX3):c.8450C>G (p.Ser2817Cys) rs2035818390
NM_006908.5(RAC1):c.212C>T (p.Ser71Phe) rs2115201430
NM_006908.5(RAC1):c.218C>T (p.Pro73Leu) rs2115201441
NM_006912.6(RIT1):c.268A>G (p.Met90Val)
NM_006914.4(RORB):c.137G>T (p.Cys46Phe) rs2118433165
NM_006915.3(RP2):c.102G>A (p.Lys34=) rs1556313552
NM_006915.3(RP2):c.158del (p.Leu53fs) rs1602347637
NM_006915.3(RP2):c.884-14G>A rs1602354996
NM_006915.3(RP2):c.932del (p.Cys311fs) rs1602355025
NM_006922.4(SCN3A):c.2350A>G (p.Met784Val) rs778744191
NM_006922.4(SCN3A):c.2947TTG[1] (p.Leu984del) rs1574159505
NM_006922.4(SCN3A):c.5295G>A (p.Met1765Ile) rs2105619771
NM_006940.6(SOX5):c.1489-2A>G rs2136075793
NM_006940.6(SOX5):c.1681A>C (p.Asn561His) rs1591908568
NM_006946.4(SPTBN2):c.1438C>T (p.Arg480Trp) rs397514749
NM_006949.4(STXBP2):c.1115C>A (p.Ala372Asp) rs1434458616
NM_006949.4(STXBP2):c.1621G>A (p.Gly541Ser) rs61736587
NM_006950.3(SYN1):c.700C>T (p.Arg234Ter) rs2147927599
NM_007055.4(POLR3A):c.1745G>A (p.Arg582His) rs34588967
NM_007059.4(KPTN):c.1183-1G>A rs2122670288
NM_007103.4(NDUFV1):c.1129G>T (p.Glu377Ter) rs1591111808
NM_007103.4(NDUFV1):c.1207dup (p.Asp403fs) rs766830864
NM_007118.4(TRIO):c.131C>T (p.Ala44Val) rs1283038205
NM_007118.4(TRIO):c.3233G>A (p.Arg1078Gln) rs1745369142
NM_007118.4(TRIO):c.3570+3G>A rs2152354197
NM_007118.4(TRIO):c.4519C>T (p.Arg1507Trp) rs2152373766
NM_007118.4(TRIO):c.7574G>A (p.Arg2525His) rs1756164006
NM_007126.5(VCP):c.271A>T (p.Asn91Tyr) rs863225291
NM_007129.5(ZIC2):c.1365AGCGGCGGCGGC[1] (p.Ala467_Ala470del) rs755522720
NM_007144.3(PCGF2):c.1029A>C (p.Leu343Phe) rs2143048806
NM_007146.3(VEZF1):c.1008GCA[9] (p.Gln351_Gln354del) rs57786397
NM_007146.3(VEZF1):c.1046_1047insGCAACAACA (p.Gln352_Gln354dup) rs914850486
NM_007194.4(CHEK2):c.-7+4A>G rs1601377191
NM_007194.4(CHEK2):c.1008+2T>G rs1555915295
NM_007194.4(CHEK2):c.1111_1127dup (p.Glu377fs) rs2052563898
NM_007194.4(CHEK2):c.1117A>G (p.Lys373Glu) rs74751600
NM_007194.4(CHEK2):c.1183G>T (p.Val395Phe) rs587780170
NM_007194.4(CHEK2):c.1188del (p.Val397fs) rs753159426
NM_007194.4(CHEK2):c.118A>G (p.Ser40Gly) rs1601853229
NM_007194.4(CHEK2):c.1216C>T (p.Arg406Cys) rs587782527
NM_007194.4(CHEK2):c.1361_1362del (p.Glu454fs) rs1569111699
NM_007194.4(CHEK2):c.1382A>G (p.Asp461Gly) rs1555913188
NM_007194.4(CHEK2):c.138G>A (p.Met46Ile) rs876660873
NM_007194.4(CHEK2):c.1392G>T (p.Lys464Asn) rs764396738
NM_007194.4(CHEK2):c.1505A>G (p.Glu502Gly) rs1060502682
NM_007194.4(CHEK2):c.1567C>A (p.Arg523Ser) rs149501505
NM_007194.4(CHEK2):c.308T>C (p.Phe103Ser) rs876658140
NM_007194.4(CHEK2):c.319+3851G>T rs1601841500
NM_007194.4(CHEK2):c.319+3965C>T rs766676371
NM_007194.4(CHEK2):c.319+3980C>T rs1045958480
NM_007194.4(CHEK2):c.328A>G (p.Asn110Asp) rs878854919
NM_007194.4(CHEK2):c.331G>T (p.Asp111Tyr) rs1569159072
NM_007194.4(CHEK2):c.336C>G (p.Asn112Lys) rs1060502689
NM_007194.4(CHEK2):c.392A>G (p.Lys131Arg) rs1569158689
NM_007194.4(CHEK2):c.3G>A (p.Met1Ile) rs786203977
NM_007194.4(CHEK2):c.444+9T>C rs1437978013
NM_007194.4(CHEK2):c.544C>A (p.Pro182Thr) rs786203973
NM_007194.4(CHEK2):c.58C>T (p.Gln20Ter) rs536907995
NM_007194.4(CHEK2):c.592+50A>C rs17881298
NM_007194.4(CHEK2):c.593-1G>T rs786203229
NM_007194.4(CHEK2):c.593-2089T>C rs1012399282
NM_007194.4(CHEK2):c.593-2151A>T rs1411302770
NM_007194.4(CHEK2):c.593-2162_593-2156dup rs199835095
NM_007194.4(CHEK2):c.613A>G (p.Thr205Ala) rs587780187
NM_007194.4(CHEK2):c.616_617del (p.Val206fs) rs1346554630
NM_007194.4(CHEK2):c.695G>T (p.Gly232Val) rs779322187
NM_007194.4(CHEK2):c.847-3T>G rs1159089063
NM_007194.4(CHEK2):c.847-5C>G rs1555917045
NM_007194.4(CHEK2):c.888T>G (p.Asp296Glu) rs876660742
NM_007194.4(CHEK2):c.88G>A (p.Gly30Ser) rs1555932749
NM_007194.4(CHEK2):c.941del (p.Val314fs) rs1601738999
NM_007194.4(CHEK2):c.988C>T (p.Gln330Ter) rs768973809
NM_007194.4(CHEK2):c.99A>G (p.Ser33=) rs925489951
NM_007214.5(SEC63):c.1697AAG[2] (p.Glu568del) rs752018806
NM_007254.4(PNKP):c.1221_1223del (p.Thr408del) rs786205207
NM_007254.4(PNKP):c.1225T>C (p.Cys409Arg) rs1338672803
NM_007254.4(PNKP):c.1541_1548dup (p.Gln517fs) rs1279136929
NM_007255.3(B4GALT7):c.413+60C>G rs28499092
NM_007279.3(U2AF2):c.746T>A (p.Val249Asp) rs2123691990
NM_007294.4(BRCA1):c.*58C>T rs137892861
NM_007294.4(BRCA1):c.*855_*873A[20]GAAAAAAAAAAAAAAAAAAAAAA[1] rs59541324
NM_007294.4(BRCA1):c.*865_*873dup rs59541324
NM_007294.4(BRCA1):c.-107A>T rs2154580237
NM_007294.4(BRCA1):c.-20+152A>G rs1412775379
NM_007294.4(BRCA1):c.-20+5T>C rs1057524628
NM_007294.4(BRCA1):c.-53C>T rs1597925819
NM_007294.4(BRCA1):c.1021G>A (p.Asp341Asn) rs756987689
NM_007294.4(BRCA1):c.103G>T (p.Val35Phe) rs879255284
NM_007294.4(BRCA1):c.107C>A (p.Ser36Tyr) rs183557525
NM_007294.4(BRCA1):c.1088del (p.Asn363fs) rs80357954
NM_007294.4(BRCA1):c.1106_1108del (p.Asp369del) rs80358325
NM_007294.4(BRCA1):c.131_132del (p.Phe43_Cys44insTer) rs1597911705
NM_007294.4(BRCA1):c.1320_1330del (p.Leu440_Ile441insTer) rs2154458213
NM_007294.4(BRCA1):c.1327A>T (p.Lys443Ter) rs398122630
NM_007294.4(BRCA1):c.1340_1341insG (p.His448fs) rs80357597
NM_007294.4(BRCA1):c.135-5T>C rs587781916
NM_007294.4(BRCA1):c.1350A>T (p.Lys450Asn) rs1597876640
NM_007294.4(BRCA1):c.1360_1361del (p.Glu453_Ser454insTer) rs80357969
NM_007294.4(BRCA1):c.1380dup (p.Phe461fs) rs80357714
NM_007294.4(BRCA1):c.1383dup (p.Gly462fs) rs80357879
NM_007294.4(BRCA1):c.1441C>G (p.Leu481Val) rs1397842308
NM_007294.4(BRCA1):c.1492del (p.Leu498fs) rs80357527
NM_007294.4(BRCA1):c.1601A>G (p.Gln534Arg) rs80357173
NM_007294.4(BRCA1):c.1612C>T (p.Gln538Ter) rs80356893
NM_007294.4(BRCA1):c.1775G>A (p.Ser592Asn) rs786203044
NM_007294.4(BRCA1):c.1796_1799del (p.Asn599fs) rs1380657206
NM_007294.4(BRCA1):c.1843TCT[1] (p.Ser616del) rs80358329
NM_007294.4(BRCA1):c.188T>A (p.Leu63Ter) rs80357086
NM_007294.4(BRCA1):c.190T>C (p.Cys64Arg) rs80357064
NM_007294.4(BRCA1):c.1912G>A (p.Glu638Lys) rs80357005
NM_007294.4(BRCA1):c.192T>G (p.Cys64Trp) rs587781632
NM_007294.4(BRCA1):c.1951A>C (p.Lys651Gln) rs1555590804
NM_007294.4(BRCA1):c.1962dup (p.Tyr655fs) rs1567797549
NM_007294.4(BRCA1):c.1997T>C (p.Leu666Pro) rs1567797346
NM_007294.4(BRCA1):c.1A>G (p.Met1Val) rs80357287
NM_007294.4(BRCA1):c.2037_2038insC (p.Lys680fs) rs1597872557
NM_007294.4(BRCA1):c.2037delinsCC (p.Lys679fs) rs397508932
NM_007294.4(BRCA1):c.2083G>T (p.Asp695Tyr) rs28897681
NM_007294.4(BRCA1):c.211A>G (p.Arg71Gly) rs80357382
NM_007294.4(BRCA1):c.2125_2126insA (p.Phe709fs) rs80357871
NM_007294.4(BRCA1):c.213-14C>G rs1060502337
NM_007294.4(BRCA1):c.2176_2177del (p.Leu726fs) rs397508945
NM_007294.4(BRCA1):c.2209A>G (p.Thr737Ala) rs1567796585
NM_007294.4(BRCA1):c.2217dup (p.Val740fs) rs80357802
NM_007294.4(BRCA1):c.2232T>G (p.Ala744=) rs4986846
NM_007294.4(BRCA1):c.2331T>G (p.Tyr777Ter) rs80357444
NM_007294.4(BRCA1):c.2405_2406del (p.Val802fs) rs80357706
NM_007294.4(BRCA1):c.2612C>T (p.Pro871Leu) rs799917
NM_007294.4(BRCA1):c.2614T>G (p.Phe872Val) rs2053728394
NM_007294.4(BRCA1):c.2683del (p.Gln895fs) rs2154364983
NM_007294.4(BRCA1):c.2798G>C (p.Gly933Ala) rs80356941
NM_007294.4(BRCA1):c.2800C>T (p.Gln934Ter) rs80357223
NM_007294.4(BRCA1):c.2859T>C (p.Cys953=) rs1597867228
NM_007294.4(BRCA1):c.2889_2890del (p.Gly964fs) rs80357890
NM_007294.4(BRCA1):c.2960dup (p.Ser988fs) rs886040088
NM_007294.4(BRCA1):c.296T>C (p.Leu99Ser) rs1567811021
NM_007294.4(BRCA1):c.3047A>G (p.Asn1016Ser) rs1567793123
NM_007294.4(BRCA1):c.3068del (p.Val1023fs) rs1567793053
NM_007294.4(BRCA1):c.3119G>C (p.Ser1040Thr) rs4986852
NM_007294.4(BRCA1):c.3257T>G (p.Leu1086Ter) rs80357006
NM_007294.4(BRCA1):c.332A>C (p.Glu111Ala) rs80357312
NM_007294.4(BRCA1):c.3331_3334del (p.Gln1111fs) rs80357701
NM_007294.4(BRCA1):c.3477_3480del (p.Ile1159fs) rs80357781
NM_007294.4(BRCA1):c.3481_3491del (p.Glu1161fs) rs80357877
NM_007294.4(BRCA1):c.3586A>T (p.Thr1196Ser) rs1340335862
NM_007294.4(BRCA1):c.3598C>T (p.Gln1200Ter) rs62625307
NM_007294.4(BRCA1):c.3600G>T (p.Gln1200His) rs56214134
NM_007294.4(BRCA1):c.3627A>G (p.Leu1209=) rs770579978
NM_007294.4(BRCA1):c.3682C>T (p.His1228Tyr) rs1567790599
NM_007294.4(BRCA1):c.3700_3704del (p.Val1234fs) rs80357609
NM_007294.4(BRCA1):c.372C>G (p.Ile124Met) rs273900715
NM_007294.4(BRCA1):c.3782T>C (p.Leu1261Ser) rs397507219
NM_007294.4(BRCA1):c.3817C>T (p.Gln1273Ter) rs80357208
NM_007294.4(BRCA1):c.3916_3917del (p.Leu1306fs) rs80357678
NM_007294.4(BRCA1):c.391A>G (p.Arg131Gly) rs80357207
NM_007294.4(BRCA1):c.3G>A (p.Met1Ile) rs80357475
NM_007294.4(BRCA1):c.4040G>A (p.Arg1347Lys) rs80357210
NM_007294.4(BRCA1):c.4065_4068del (p.Asn1355fs) rs80357508
NM_007294.4(BRCA1):c.4096+43G>A rs1597859241
NM_007294.4(BRCA1):c.4152_4153del (p.Leu1385fs) rs1567788338
NM_007294.4(BRCA1):c.4183C>T (p.Gln1395Ter) rs80357260
NM_007294.4(BRCA1):c.4185+1G>A rs80358076
NM_007294.4(BRCA1):c.4258C>T (p.Gln1420Ter) rs80357305
NM_007294.4(BRCA1):c.4304A>G (p.Asp1435Gly) rs876660809
NM_007294.4(BRCA1):c.4354A>G (p.Lys1452Glu) rs398122685
NM_007294.4(BRCA1):c.4357+1G>T rs80358027
NM_007294.4(BRCA1):c.4390C>A (p.Pro1464Thr) rs1259139517
NM_007294.4(BRCA1):c.4396A>T (p.Ser1466Cys) rs1064794830
NM_007294.4(BRCA1):c.441+2T>A rs397509173
NM_007294.4(BRCA1):c.441+36_441+49del rs373413425
NM_007294.4(BRCA1):c.4484+32A>G rs1597838919
NM_007294.4(BRCA1):c.4484+5G>A rs886040910
NM_007294.4(BRCA1):c.4484G>T (p.Arg1495Met) rs80357389
NM_007294.4(BRCA1):c.4568del (p.Pro1523fs) rs1567778075
NM_007294.4(BRCA1):c.4574A>G (p.Gln1525Arg) rs786203386
NM_007294.4(BRCA1):c.4664G>C (p.Arg1555Thr) rs786202165
NM_007294.4(BRCA1):c.4675+1G>A rs80358044
NM_007294.4(BRCA1):c.4675+1G>T rs80358044
NM_007294.4(BRCA1):c.4676-44A>C rs989129232
NM_007294.4(BRCA1):c.470_471del (p.Leu156_Ser157insTer) rs80357887
NM_007294.4(BRCA1):c.4724C>A (p.Pro1575His) rs80357052
NM_007294.4(BRCA1):c.4733A>G (p.Asp1578Gly) rs80356930
NM_007294.4(BRCA1):c.4736_4739del (p.Pro1579fs) rs1555581017
NM_007294.4(BRCA1):c.4935G>C (p.Arg1645Ser) rs80357373
NM_007294.4(BRCA1):c.4944_4945insTTTT (p.Arg1649delinsPheTer) rs1597830446
NM_007294.4(BRCA1):c.4946_4948del (p.Arg1649del) rs1597830403
NM_007294.4(BRCA1):c.4963T>C (p.Ser1655Pro) rs1057518639
NM_007294.4(BRCA1):c.4964C>T (p.Ser1655Phe) rs80357390
NM_007294.4(BRCA1):c.4964_4982del (p.Ser1655fs) rs80359876
NM_007294.4(BRCA1):c.5014CAC[1] (p.His1673del) rs80358343
NM_007294.4(BRCA1):c.5030_5033del (p.Thr1677fs) rs80357580
NM_007294.4(BRCA1):c.5049_5050dup (p.Thr1684fs) rs2153700736
NM_007294.4(BRCA1):c.5059GTT[1] (p.Val1688del) rs80358344
NM_007294.4(BRCA1):c.5064T>C (p.Val1688=) rs1567771967
NM_007294.4(BRCA1):c.5072C>T (p.Thr1691Ile) rs80357034
NM_007294.4(BRCA1):c.5074+1del rs1597825560
NM_007294.4(BRCA1):c.5074+2T>C rs80358089
NM_007294.4(BRCA1):c.5095C>A (p.Arg1699=) rs55770810
NM_007294.4(BRCA1):c.5108A>G (p.Tyr1703Cys) rs876660071
NM_007294.4(BRCA1):c.5123C>A (p.Ala1708Glu) rs28897696
NM_007294.4(BRCA1):c.5152+80del rs902919427
NM_007294.4(BRCA1):c.5153-2A>C rs786202545
NM_007294.4(BRCA1):c.5153-31A>T rs370536578
NM_007294.4(BRCA1):c.5154G>T (p.Trp1718Cys) rs80357239
NM_007294.4(BRCA1):c.5165C>T (p.Ser1722Phe) rs80357104
NM_007294.4(BRCA1):c.5193+11G>T rs1567768534
NM_007294.4(BRCA1):c.5211A>G (p.Arg1737=) rs1555576963
NM_007294.4(BRCA1):c.521A>C (p.Gln174Pro) rs1567806035
NM_007294.4(BRCA1):c.5242G>C (p.Gly1748Arg) rs397507245
NM_007294.4(BRCA1):c.5266dup (p.Gln1756fs) rs80357906
NM_007294.4(BRCA1):c.5277+7C>T rs1597810359
NM_007294.4(BRCA1):c.5333-873T>C rs943672382
NM_007294.4(BRCA1):c.5365G>A (p.Ala1789Thr) rs80357078
NM_007294.4(BRCA1):c.5425_5430del (p.Val1809_Val1810del) rs80358348
NM_007294.4(BRCA1):c.5429T>G (p.Val1810Gly) rs80357451
NM_007294.4(BRCA1):c.5458G>A (p.Gly1820Ser) rs398122698
NM_007294.4(BRCA1):c.5468-49C>T rs1597797362
NM_007294.4(BRCA1):c.5497G>A (p.Val1833Met) rs80357268
NM_007294.4(BRCA1):c.5509T>C (p.Trp1837Arg) rs80356959
NM_007294.4(BRCA1):c.5580C>G (p.His1860Gln) rs1597796507
NM_007294.4(BRCA1):c.577A>G (p.Lys193Glu) rs878854962
NM_007294.4(BRCA1):c.594-16dup rs1555593635
NM_007294.4(BRCA1):c.60A>C (p.Lys20Asn) rs202168814
NM_007294.4(BRCA1):c.652T>G (p.Leu218Val) rs765950064
NM_007294.4(BRCA1):c.66dup (p.Glu23fs) rs80357783
NM_007294.4(BRCA1):c.671-18_671-16del rs398122354
NM_007294.4(BRCA1):c.679G>T (p.Glu227Ter) rs879255319
NM_007294.4(BRCA1):c.689_692del (p.Glu230fs) rs886040308
NM_007294.4(BRCA1):c.68_69del (p.Glu23fs) rs80357914
NM_007294.4(BRCA1):c.69G>C (p.Glu23Asp) rs766004110
NM_007294.4(BRCA1):c.718C>T (p.Gln240Ter) rs886040313
NM_007294.4(BRCA1):c.757G>A (p.Ala253Thr) rs80357293
NM_007294.4(BRCA1):c.773C>G (p.Pro258Arg) rs80357225
NM_007294.4(BRCA1):c.798_799del (p.Ser267fs) rs80357724
NM_007294.4(BRCA1):c.81-14C>G rs80358006
NM_007294.4(BRCA1):c.81-14C>T rs80358006
NM_007294.4(BRCA1):c.823G>A (p.Gly275Ser) rs8176153
NM_007294.4(BRCA1):c.862A>G (p.Ser288Gly) rs1597879544
NM_007294.4(BRCA1):c.932C>G (p.Pro311Arg) rs1301795658
NM_007294.4(BRCA1):c.958A>T (p.Arg320Ter) rs1131692065
NM_007315.4(STAT1):c.514T>C (p.Phe172Leu) rs2125075036
NM_007315.4(STAT1):c.536A>G (p.Asn179Ser) rs774611299
NM_007315.4(STAT1):c.876C>A (p.Asp292Glu) rs1085307649
NM_007317.3(KIF22):c.1399G>A (p.Glu467Lys) rs1596854441
NM_007317.3(KIF22):c.990+7C>G rs2142373765
NM_007325.5(GRIA3):c.1450_1453dup (p.Pro485fs) rs2147384890
NM_007325.5(GRIA3):c.1957G>A (p.Ala653Thr) rs1057521721
NM_007325.5(GRIA3):c.268+16762dup rs11452643
NM_007327.4(GRIN1):c.1668G>T (p.Gln556His) rs2131297434
NM_007327.4(GRIN1):c.1782GGA[4] (p.Glu598del) rs768704257
NM_007327.4(GRIN1):c.1832G>T (p.Trp611Leu) rs2131298613
NM_007327.4(GRIN1):c.1979C>T (p.Pro660Leu) rs1328780843
NM_007332.3(TRPA1):c.326dup (p.Asn109fs) rs762799819
NM_007348.4(ATF6):c.1190_1191insTTTTT (p.Met397fs) rs1571184566
NM_007348.4(ATF6):c.1191G>T (p.Met397Ile) rs1285628089
NM_007348.4(ATF6):c.709C>T (p.Gln237Ter) rs1571143590
NM_007375.4(TARDBP):c.1129T>C (p.Ser377Pro) rs1570725499
NM_012062.5(DNM1L):c.1108T>C (p.Phe370Leu) rs1592661973
NM_012062.5(DNM1L):c.1207C>T (p.Arg403Cys) rs863223953
NM_012062.5(DNM1L):c.1292G>A (p.Cys431Tyr) rs1064794656
NM_012062.5(DNM1L):c.1571T>C (p.Leu524Ser) rs1031075173
NM_012062.5(DNM1L):c.1822A>C (p.Lys608Gln) rs1592688400
NM_012062.5(DNM1L):c.1915C>T (p.Arg639Trp) rs1011225865
NM_012064.4(MIP):c.606+1G>A rs1220143491
NM_012079.6(DGAT1):c.719_737dup (p.Leu247fs) rs2130518888
NM_012079.6(DGAT1):c.889del (p.Gln297fs) rs1200919286
NM_012151.4(F8A1):c.1097C>G (p.Pro366Arg) rs1603432445
NM_012199.5(AGO1):c.1802C>T (p.Ala601Val) rs2148723245
NM_012200.4(B3GAT3):c.909+263C>G rs12794886
NM_012203.2(GRHPR):c.83+52del rs35891798
NM_012210.4(TRIM32):c.1201A>T (p.Lys401Ter) rs747266069
NM_012250.6(RRAS2):c.59T>C (p.Val20Ala) rs1554955851
NM_012310.5(KIF4A):c.1525G>A (p.Asp509Asn) rs1344933833
NM_012330.4(KAT6B):c.3769_3772del (p.Lys1258fs) rs199470470
NM_012330.4(KAT6B):c.4065GGA[3] (p.Glu1367_Glu1368del) rs367634881
NM_012330.4(KAT6B):c.4072G>T (p.Glu1358Ter) rs774508465
NM_012330.4(KAT6B):c.4079AAGAGGAAG[2] (p.Glu1366_Glu1368del) rs375513122
NM_012330.4(KAT6B):c.4861del (p.Ala1621fs) rs1589844592
NM_012330.4(KAT6B):c.4993A>G (p.Ser1665Gly) rs1589844927
NM_012448.4(STAT5B):c.1718G>A (p.Trp573Ter) rs2144219508
NM_012469.4(PRPF6):c.2593C>T (p.His865Tyr) rs1037019727
NM_012479.4(YWHAG):c.398A>C (p.Tyr133Ser) rs1554616627
NM_012479.4(YWHAG):c.451G>T (p.Glu151Ter) rs1389455796
NM_013275.6(ANKRD11):c.3603dup (p.Phe1202fs) rs1597455532
NM_013275.6(ANKRD11):c.4145dup (p.Gly1384fs) rs1597453026
NM_013275.6(ANKRD11):c.7061C>A (p.Pro2354His) rs749176560
NM_013275.6(ANKRD11):c.7180C>T (p.Gln2394Ter) rs863225296
NM_013275.6(ANKRD11):c.733G>A (p.Gly245Arg) rs2034811107
NM_013275.6(ANKRD11):c.7765T>C (p.Ser2589Pro) rs2151675756
NM_013275.6(ANKRD11):c.7822C>T (p.Arg2608Trp) rs1597389370
NM_013336.4(SEC61A1):c.186C>A (p.Phe62Leu) rs2107641650
NM_013382.7(POMT2):c.1271A>G (p.His424Arg) rs1359158673
NM_013436.5(NCKAP1):c.948-6A>C rs2105858704
NM_013447.4(ADGRE2):c.1230G>A (p.Met410Ile) rs1005458732
NM_013447.4(ADGRE2):c.1475G>A (p.Cys492Tyr) rs199718602
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_014008.5(CCDC22):c.1490T>G (p.Ile497Ser) rs1007227022
NM_014009.4(FOXP3):c.1234del (p.Glu412fs) rs2147944106
NM_014014.5(SNRNP200):c.1405A>G (p.Lys469Glu) rs933842186
NM_014014.5(SNRNP200):c.2041C>T (p.Arg681Cys) rs959069360
NM_014014.5(SNRNP200):c.2183G>T (p.Arg728Leu) rs1477839027
NM_014023.4(WDR37):c.389C>T (p.Thr130Ile) rs1589088703
NM_014028.4(OSTM1):c.486del (p.Phe162fs) rs1582396088
NM_014049.5(ACAD9):c.808+63GT[14] rs63473460
NM_014053.4(FLVCR1):c.1413+82TTG[6] rs41300975
NM_014141.6(CNTNAP2):c.2217_2227del (p.Pro739_Lys740insTer) rs1585020100
NM_014141.6(CNTNAP2):c.2773+76del rs5888307
NM_014159.7(SETD2):c.1387G>C (p.Glu463Gln) rs2106699134
NM_014168.4(METTL5):c.591+2T>G rs1400976065
NM_014210.4(EVI2A):c.386ACA[3] (p.Asn132del) rs773381280
NM_014215.3(INSRR):c.3397+4del rs1451820799
NM_014215.3(INSRR):c.3397+9G>A rs1322273300
NM_014225.6(PPP2R1A):c.754G>A (p.Ala252Thr) rs1369485535
NM_014244.5(ADAMTS2):c.2561_2562del (p.Val854fs) rs1554124086
NM_014244.5(ADAMTS2):c.47TGC[9] (p.Leu23dup) rs568040559
NM_014251.3(SLC25A13):c.1420G>A (p.Val474Met) rs554809009
NM_014314.4(RIGI):c.1529A>T (p.Glu510Val) rs1587586052
NM_014324.6(AMACR):c.206T>C (p.Leu69Pro) rs915168123
NM_014363.6(SACS):c.11941C>T (p.Gln3981Ter) rs1593121484
NM_014363.6(SACS):c.3589T>C (p.Ser1197Pro) rs727503785
NM_014363.6(SACS):c.6000_6004del (p.Arg2002fs) rs773754134
NM_014363.6(SACS):c.8621_8624del (p.Ser2874fs) rs753012964
NM_014423.4(AFF4):c.2108C>T (p.Ser703Leu) rs1581278077
NM_014423.4(AFF4):c.2189C>G (p.Pro730Arg) rs1581277937
NM_014423.4(AFF4):c.2485G>C (p.Gly829Arg) rs763295786
NM_014444.5(TUBGCP4):c.1380G>A (p.Trp460Ter) rs1595496969
NM_014467.3(SRPX2):c.602C>T (p.Ala201Val) rs915881767
NM_014489.4(PGAP2):c.391dup (p.Glu131fs) rs1590414565
NM_014489.4(PGAP2):c.392A>G (p.Glu131Gly) rs533117826
NM_014489.4(PGAP2):c.395T>G (p.Val132Gly) rs551147697
NM_014489.4(PGAP2):c.449T>C (p.Phe150Ser) rs1590416370
NM_014491.4(FOXP2):c.483ACAACAGCAGCA[3] (p.Gln188_Gln191dup) rs761316361
NM_014515.7(CNOT2):c.*10_*23del (p.Ter541=) rs35192504
NM_014516.4(CNOT3):c.1706-2A>G rs2146758722
NM_014516.4(CNOT3):c.732dup (p.Ser245fs) rs753475896
NM_014585.6(SLC40A1):c.430A>G (p.Asn144Asp) rs104893662
NM_014625.4(NPHS2):c.938C>T (p.Ser313Leu) rs2125765231
NM_014625.4(NPHS2):c.981del (p.Gln328fs) rs1572255047
NM_014639.4(SKIC3):c.2353_2361del (p.Asn785_Tyr787del) rs1174587137
NM_014639.4(SKIC3):c.2849_2850del (p.Glu950fs) rs2112308448
NM_014672.4(PRORP):c.16_19del (p.Phe6fs) rs771817540
NM_014675.5(CROCC):c.2707C>A (p.Arg903Ser) rs114863724
NM_014681.6(DHX34):c.2327G>C (p.Arg776Pro) rs764483792
NM_014714.4(IFT140):c.3192del (p.Glu1065fs) rs1567327347
NM_014720.4(SLK):c.3244C>T (p.Arg1082Ter) rs1589547463
NM_014727.3(KMT2B):c.683del (p.Ala228fs) rs2146434180
NM_014742.4(TM9SF4):c.580A>T (p.Met194Leu) rs1232645854
NM_014754.3(PTDSS1):c.953C>T (p.Pro318Leu) rs1586200389
NM_014780.5(CUL7):c.2862+2T>G rs2150321832
NM_014780.5(CUL7):c.652del (p.Arg218fs) rs1581962986
NM_014781.5(RB1CC1):c.1702C>T (p.Arg568Ter) rs746206314
NM_014795.4(ZEB2):c.1848del (p.His617fs) rs2149877032
NM_014795.4(ZEB2):c.194_195del (p.Val65fs) rs1573743951
NM_014795.4(ZEB2):c.1_16del (p.Met1fs) rs2149935184
NM_014795.4(ZEB2):c.2095C>T (p.Gln699Ter) rs1573716158
NM_014795.4(ZEB2):c.244G>A (p.Glu82Lys) rs1573743847
NM_014795.4(ZEB2):c.289del (p.Trp97fs) rs727503784
NM_014795.4(ZEB2):c.2996_3003del (p.Met998_Tyr999insTer) rs1573713477
NM_014795.4(ZEB2):c.3122A>G (p.His1041Arg) rs1573708153
NM_014795.4(ZEB2):c.3134del (p.His1045fs) rs2149872686
NM_014795.4(ZEB2):c.3208_3209insGA (p.Tyr1070Ter) rs2149872634
NM_014822.4(SEC24D):c.483T>G (p.Pro161=) rs2389688
NM_014845.6(FIG4):c.1150del (p.Arg384fs) rs1583695322
NM_014846.4(WASHC5):c.420T>A (p.Cys140Ter) rs148562491
NM_014862.4(ARNT2):c.791+5G>A rs1595993043
NM_014874.4(MFN2):c.1091G>T (p.Arg364Leu) rs879254011
NM_014874.4(MFN2):c.118A>C (p.Asn40His) rs1026123951
NM_014874.4(MFN2):c.19C>T (p.Arg7Ter) rs1557515779
NM_014874.4(MFN2):c.286C>A (p.His96Asn) rs1569816382
NM_014874.4(MFN2):c.497C>T (p.Ala166Val) rs1557522849
NM_014874.4(MFN2):c.616A>G (p.Thr206Ala) rs1569842296
NM_014874.4(MFN2):c.638T>A (p.Ile213Asn) rs1557524703
NM_014874.4(MFN2):c.746C>T (p.Ser249Phe) rs794729198
NM_014874.4(MFN2):c.839G>C (p.Arg280Pro) rs28940294
NM_014889.4(PITRM1):c.267-12_267-11insTCACCTTCCCTAGCGTGCCATTGC rs572476455
NM_014920.5(CILK1):c.478_479dup (p.Ser161fs) rs2127419893
NM_014946.4(SPAST):c.1037G>T (p.Gly346Val) rs1573121594
NM_014946.4(SPAST):c.1091_1092del (p.Arg364fs) rs1573121790
NM_014946.4(SPAST):c.1174-2A>T rs1553317018
NM_014946.4(SPAST):c.1259A>G (p.Glu420Gly) rs2148753634
NM_014946.4(SPAST):c.1462A>T (p.Arg488Trp) rs1553318329
NM_014946.4(SPAST):c.1469_1470del (p.Gln490fs) rs1573157108
NM_014946.4(SPAST):c.1493+2T>A rs1553318353
NM_014946.4(SPAST):c.1496G>A (p.Arg499His) rs878854991
NM_014946.4(SPAST):c.1496G>T (p.Arg499Leu) rs878854991
NM_014946.4(SPAST):c.1838A>G (p.Asp613Gly) rs1553321269
NM_014946.4(SPAST):c.1841C>T (p.Thr614Ile) rs1573186691
NM_014946.4(SPAST):c.838C>T (p.Gln280Ter) rs1553314948
NM_014975.3(MAST1):c.3126G>C (p.Lys1042Asn) rs1218676106
NM_014975.3(MAST1):c.3344A>C (p.Asn1115Thr) rs1414472632
NM_014975.3(MAST1):c.691T>C (p.Cys231Arg) rs1969917438
NM_014989.7(RIMS1):c.3139del (p.Thr1047fs) rs587783021
NM_014991.6(WDFY3):c.6086C>T (p.Ser2029Phe) rs2149233741
NM_014991.6(WDFY3):c.8444G>T (p.Gly2815Val) rs1578183451
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_015046.6(SETX):c.6848_6851delCAGA
NM_015046.7(SETX):c.1167A>C (p.Leu389Phe) rs2131463306
NM_015046.7(SETX):c.6017G>A (p.Cys2006Tyr) rs200154603
NM_015046.7(SETX):c.6996_7002del (p.Asp2332fs) rs1362178149
NM_015047.3(EMC1):c.1751C>G (p.Pro584Arg) rs1553252938
NM_015047.3(EMC1):c.1754C>A (p.Pro585Gln) rs1572001567
NM_015076.5(CDK19):c.553_554insTT (p.Lys185fs) rs2114706969
NM_015076.5(CDK19):c.92C>A (p.Thr31Asn) rs1783518295
NM_015100.4(POGZ):c.125-1G>T rs1571533545
NM_015100.4(POGZ):c.2569A>G (p.Arg857Gly) rs2102152736
NM_015100.4(POGZ):c.2789C>G (p.Pro930Arg) rs145570114
NM_015100.4(POGZ):c.3424C>T (p.Arg1142Ter) rs773311942
NM_015100.4(POGZ):c.394A>G (p.Met132Val) rs2102308092
NM_015100.4(POGZ):c.460-1G>A rs1571464589
NM_015114.3(ANKLE2):c.1892-127_1892-65del rs1555235999
NM_015151.4(DIP2A):c.1431T>G (p.Gly477=) rs1601714473
NM_015151.4(DIP2A):c.4682A>G (p.Gln1561Arg) rs891747773
NM_015155.3(LARP4B):c.2079C>A (p.Tyr693Ter) rs2131588406
NM_015166.4(MLC1):c.1052_1053insCGGGGAGGTGAGTGGCCTGTGGGGTGGGGGTGC (p.Val354_Ala355insSerGlyLeuTrpGlyGlyGlyAlaGlyGluVal) rs745656804
NM_015166.4(MLC1):c.223del (p.Val75fs) rs794729233
NM_015215.4(CAMTA1):c.2639G>A (p.Trp880Ter) rs1576691273
NM_015215.4(CAMTA1):c.3142C>T (p.Arg1048Ter) rs2149989087
NM_015278.5(SASH1):c.2642C>T (p.Pro881Leu)
NM_015311.3(OBSL1):c.1534+5G>C rs775172922
NM_015335.5(MED13L):c.3913C>T (p.His1305Tyr) rs1231044656
NM_015335.5(MED13L):c.4041G>A (p.Trp1347Ter) rs2137290161
NM_015338.6(ASXL1):c.1426_1427dup (p.Glu477fs) rs1600583334
NM_015338.6(ASXL1):c.2535dup (p.Ser846fs) rs750170870
NM_015338.6(ASXL1):c.3460G>A (p.Gly1154Ser) rs199571804
NM_015338.6(ASXL1):c.3635C>T (p.Ser1212Phe) rs542568224
NM_015346.4(ZFYVE26):c.4359T>A (p.Cys1453Ter) rs1594912625
NM_015346.4(ZFYVE26):c.4370G>A (p.Cys1457Tyr) rs2235967
NM_015346.4(ZFYVE26):c.4633G>T (p.Glu1545Ter) rs763869212
NM_015355.4(SUZ12):c.1979T>C (p.Leu660Pro) rs2142222377
NM_015355.4(SUZ12):c.386+1G>A rs2142117453
NM_015443.4(KANSL1):c.1325G>C (p.Arg442Pro) rs1480307304
NM_015443.4(KANSL1):c.2105del (p.Lys702fs) rs2146370110
NM_015443.4(KANSL1):c.2710GAG[1] (p.Glu905del) rs551968687
NM_015443.4(KANSL1):c.3053C>A (p.Thr1018Asn) rs145863194
NM_015443.4(KANSL1):c.985_986del (p.Leu329fs) rs281865473
NM_015450.3(POT1):c.1678A>C (p.Met560Leu) rs1351302431
NM_015450.3(POT1):c.1781_1782del (p.Gly594fs) rs1562972380
NM_015466.4(PTPN23):c.1004-2A>C rs2107717262
NM_015474.4(SAMHD1):c.626-64_626-63del rs529639777
NM_015488.5(PNKD):c.538G>A (p.Gly180Arg) rs1694676419
NM_015506.3(MMACHC):c.565C>A (p.Arg189Ser) rs200895671
NM_015559.3(SETBP1):c.2111C>T (p.Ala704Val) rs1599367870
NM_015559.3(SETBP1):c.4598C>T (p.Pro1533Leu) rs2073923280
NM_015570.4(AUTS2):c.1882_1883del (p.Leu628fs) rs1585667374
NM_015570.4(AUTS2):c.706T>C (p.Ser236Pro) rs2129547446
NM_015629.4(PRPF31):c.1146+5_1146+6del rs2146446040
NM_015629.4(PRPF31):c.165G>A (p.Trp55Ter) rs1439576531
NM_015629.4(PRPF31):c.205del (p.Glu69fs) rs2146394096
NM_015629.4(PRPF31):c.322+1G>A rs1600335289
NM_015629.4(PRPF31):c.335del (p.Lys112fs) rs1600337158
NM_015629.4(PRPF31):c.3G>A (p.Met1Ile) rs1600324262
NM_015629.4(PRPF31):c.573C>A (p.Cys191Ter) rs764232082
NM_015629.4(PRPF31):c.856-1G>A rs1600350656
NM_015629.4(PRPF31):c.89_92del (p.Pro30fs) rs1600324442
NM_015629.4(PRPF31):c.992G>A (p.Trp331Ter) rs1555794205
NM_015665.6(AAAS):c.1357_1358dup (p.Gln454fs) rs2121081165
NM_015665.6(AAAS):c.887C>A (p.Ser296Tyr) rs1450008394
NM_015702.3(MMADHC):c.136G>C (p.Ala46Pro) rs749521854
NM_015726.4(DCAF8):c.723+43G>T rs114777785
NM_015836.4(WARS2):c.680T>C (p.Met227Thr) rs2101095108
NM_015874.6(RBPJ):c.1064T>A (p.Val355Glu) rs1141521
NM_015874.6(RBPJ):c.1066G>C (p.Ala356Pro) rs1577681438
NM_015874.6(RBPJ):c.1168del (p.Cys390fs) rs1577682042
NM_015874.6(RBPJ):c.1183A>G (p.Ile395Val) rs1064381
NM_015874.6(RBPJ):c.154A>G (p.Arg52Gly) rs1553878211
NM_015874.6(RBPJ):c.368G>A (p.Arg123Gln) rs1577662911
NM_015874.6(RBPJ):c.394A>G (p.Met132Val) rs1577662961
NM_015909.4(NBAS):c.335+1G>A rs1573008071
NM_015915.5(ATL1):c.1024C>G (p.Pro342Ala) rs1555365509
NM_015915.5(ATL1):c.1160T>C (p.Leu387Ser) rs1595625010
NM_015915.5(ATL1):c.1204T>C (p.Phe402Leu) rs1555365850
NM_015915.5(ATL1):c.1223T>C (p.Met408Thr) rs1595625113
NM_015915.5(ATL1):c.466A>C (p.Thr156Pro) rs2140205433
NM_015915.5(ATL1):c.488T>C (p.Val163Ala) rs1595600383
NM_015915.5(ATL1):c.596T>A (p.Leu199Gln) rs797045004
NM_015932.6(POMP):c.265-1G>C rs1332221990
NM_015972.4(POLR1D):c.166C>T (p.Arg56Cys) rs1014369151
NM_016032.4(ZDHHC9):c.805C>G (p.Arg269Gly) rs969303226
NM_016035.5(COQ4):c.202G>A (p.Asp68Asn) rs758522459
NM_016138.5(COQ7):c.635_636del (p.Tyr212fs) rs2142400288
NM_016169.4(SUFU):c.1023-3C>T rs550262133
NM_016169.4(SUFU):c.37A>C (p.Thr13Pro) rs1456048322
NM_016169.4(SUFU):c.37_42del (p.Thr13_Ala14del) rs1589969829
NM_016188.5(ACTL6B):c.-50G>C rs1455860000
NM_016188.5(ACTL6B):c.435CTT[2] (p.Phe147del) rs772520618
NM_016194.4(GNB5):c.1160G>C (p.Trp387Ser) rs2141181367
NM_016194.4(GNB5):c.375+1G>T rs886041055
NM_016204.4(GDF2):c.997C>T (p.Arg333Trp) rs35129734
NM_016219.5(MAN1B1):c.179dup (p.Tyr60Ter) rs1377102705
NM_016239.4(MYO15A):c.1615C>T (p.Gln539Ter) rs1597752877
NM_016239.4(MYO15A):c.2972G>C (p.Gly991Ala) rs1597757405
NM_016239.4(MYO15A):c.3724C>T (p.Leu1242Phe) rs1364265842
NM_016327.3(UPB1):c.47A>C (p.His16Pro) rs199934207
NM_016341.4(PLCE1):c.1148C>A (p.Ser383Ter) rs2134504108
NM_016341.4(PLCE1):c.3698T>C (p.Leu1233Pro) rs1589433172
NM_016341.4(PLCE1):c.5168-1G>A rs941409069
NM_016373.4(WWOX):c.*15G>T rs533890923
NM_016373.4(WWOX):c.*187_*190dup rs1597489135
NM_016373.4(WWOX):c.*200GGGCT[1] rs144412859
NM_016373.4(WWOX):c.1056G>C (p.Met352Ile) rs2151386374
NM_016373.4(WWOX):c.107+1G>A rs1300924648
NM_016373.4(WWOX):c.136C>T (p.His46Tyr) rs1597207871
NM_016373.4(WWOX):c.152A>G (p.Lys51Arg) rs2032292763
NM_016373.4(WWOX):c.526A>G (p.Lys176Glu) rs2151934098
NM_016373.4(WWOX):c.535G>A (p.Ala179Thr) rs11545029
NM_016373.4(WWOX):c.689A>C (p.Gln230Pro)
NM_016373.4(WWOX):c.705dup (p.His236fs) rs1597216056
NM_016441.3(CRIM1):c.881T>C (p.Leu294Pro) rs1418937020
NM_016507.4(CDK12):c.4340C>G (p.Thr1447Ser) rs767287779
NM_016525.5(UBAP1):c.293del (p.Gly98fs) rs2131620305
NM_016529.6(ATP8A2):c.1577C>T (p.Pro526Leu) rs2138178224
NM_016529.6(ATP8A2):c.1761dup (p.Arg588fs) rs1156904586
NM_016529.6(ATP8A2):c.2655del (p.Asn886fs) rs1593326999
NM_016579.4(CD320):c.256GAG[2] (p.Glu88del) rs150384171
NM_016604.4(KDM3B):c.4627G>A (p.Ala1543Thr) rs2127002980
NM_016648.4(LARP7):c.679C>T (p.Arg227Ter) rs775430086
NM_016734.3(PAX5):c.1013-6A>G rs1587737218
NM_016734.3(PAX5):c.604+7G>C rs1237859720
NM_016938.5(EFEMP2):c.679C>T (p.Arg227Cys) rs397514683
NM_016944.2(TAS2R4):c.620_621del (p.Ile207fs) rs1198286927
NM_016953.4(PDE11A):c.2268_2272del (p.Ser757fs) rs769235876
NM_017415.3(KLHL3):c.1519G>A (p.Val507Ile) rs863225302
NM_017433.5(MYO3A):c.3948dup (p.Cys1317fs) rs1589079163
NM_017460.6(CYP3A4):c.902T>C (p.Ile301Thr) rs1815413655
NM_017514.5(PLXNA3):c.2589G>C (p.Glu863Asp) rs5945430
NM_017514.5(PLXNA3):c.3280C>T (p.Gln1094Ter) rs2148252801
NM_017534.6(MYH2):c.3652C>T (p.Arg1218Ter) rs1187271694
NM_017534.6(MYH2):c.5525C>G (p.Ala1842Gly) rs377255645
NM_017617.5(NOTCH1):c.1045A>C (p.Thr349Pro) rs200520088
NM_017617.5(NOTCH1):c.1756A>C (p.Thr586Pro) rs764854903
NM_017617.5(NOTCH1):c.1760T>C (p.Phe587Ser) rs771440130
NM_017617.5(NOTCH1):c.1762A>C (p.Thr588Pro) rs747384159
NM_017617.5(NOTCH1):c.3905G>T (p.Arg1302Leu) rs762091081
NM_017617.5(NOTCH1):c.580A>C (p.Thr194Pro) rs770333242
NM_017617.5(NOTCH1):c.931A>C (p.Thr311Pro) rs202145498
NM_017635.5(KMT5B):c.668_672del (p.Lys223fs) rs1590956245
NM_017649.5(CNNM2):c.2240A>G (p.Asn747Ser) rs988049940
NM_017654.4(SAMD9):c.1781T>G (p.Leu594Ter) rs1282838740
NM_017654.4(SAMD9):c.1800_1801del (p.Glu600fs) rs375515095
NM_017739.4(POMGNT1):c.1268C>T (p.Ser423Phe) rs1571655768
NM_017739.4(POMGNT1):c.235+2T>G rs2148218654
NM_017739.4(POMGNT1):c.880-1G>A rs1317832573
NM_017780.4(CHD7):c.1472T>A (p.Ile491Asn) rs1383452692
NM_017780.4(CHD7):c.2053_2058dup (p.Ala685_Lys686dup) rs377139749
NM_017780.4(CHD7):c.2817G>T (p.Glu939Asp) rs1586389578
NM_017780.4(CHD7):c.2957+5G>A rs1586390236
NM_017780.4(CHD7):c.4195A>G (p.Arg1399Gly) rs1586419356
NM_017780.4(CHD7):c.5050+1G>C rs1554602466
NM_017780.4(CHD7):c.5051-1G>A rs1586432203
NM_017780.4(CHD7):c.5405-7G>A rs398124321
NM_017780.4(CHD7):c.5879_5880del (p.Ile1959_Ser1960insTer) rs2150808082
NM_017780.4(CHD7):c.5909_5910insTC (p.Glu1970fs) rs2150808678
NM_017780.4(CHD7):c.5914dup (p.Ala1972fs) rs1586444410
NM_017780.4(CHD7):c.7246A>T (p.Lys2416Ter) rs1586452965
NM_017780.4(CHD7):c.8023G>T (p.Glu2675Ter) rs748504264
NM_017825.3(ADPRS):c.316C>T (p.Gln106Ter) rs368433666
NM_017825.3(ADPRS):c.485T>C (p.Leu162Pro) rs1570012058
NM_017849.4(TMEM127):c.410-2A>C rs121908826
NM_017882.2(CLN6):c.[460_462delATC];[829_837delGTCGCCTGG]
NM_017882.3(CLN6):c.406C>T (p.Arg136Cys) rs1012449574
NM_017882.3(CLN6):c.476C>T (p.Pro159Leu) rs919850756
NM_017882.3(CLN6):c.506T>A (p.Leu169His) rs1344658850
NM_017882.3(CLN6):c.791CCT[1] (p.Ser265del) rs768422260
NM_017882.3(CLN6):c.829_832del (p.Val277fs) rs1595816474
NM_017882.3(CLN6):c.837del (p.Trp279fs) rs1595816465
NM_017909.4(RMND1):c.388del (p.Val130fs) rs1582970514
NM_017934.7(PHIP):c.1186C>T (p.Arg396Ter) rs2127741566
NM_017934.7(PHIP):c.2703dup (p.Val902fs) rs2127718540
NM_017934.7(PHIP):c.3027A>G (p.Ile1009Met) rs2127705231
NM_017934.7(PHIP):c.50T>G (p.Phe17Cys) rs878854420
NM_017950.4(CCDC40):c.2832+332_2832+395del rs1567813101
NM_017950.4(CCDC40):c.2832+462_2832+490dup rs758946774
NM_017951.5(SMPD4):c.792+2T>G rs2104871303
NM_018026.4(PACS1):c.1574G>A (p.Arg525Lys) rs2134735819
NM_018060.4(IARS2):c.1255G>A (p.Asp419Asn) rs745601033
NM_018062.4(FANCL):c.775+3A>G rs975755966
NM_018062.4(FANCL):c.778G>C (p.Val260Leu) rs1573514956
NM_018077.3(RBM28):c.541+1del rs1584663340
NM_018077.3(RBM28):c.946G>T (p.Ala316Ser) rs1427042125
NM_018082.6(POLR3B):c.2045G>A (p.Arg682Lys) rs2137017154
NM_018122.5(DARS2):c.1196del (p.Ile399fs) rs1571995707
NM_018122.5(DARS2):c.127+94ATT[10] rs55949406
NM_018122.5(DARS2):c.228-16C>A rs778731200
NM_018122.5(DARS2):c.228-17C>G rs754752982
NM_018127.7(ELAC2):c.225C>G (p.Tyr75Ter) rs766731755
NM_018196.4(TMLHE):c.158G>A (p.Trp53Ter) rs1295722407
NM_018196.4(TMLHE):c.961_962del (p.Ile321fs) rs782624357
NM_018294.6(CWF19L1):c.187+1G>T rs1330992740
NM_018359.5(UFSP2):c.623dup (p.Asn208fs) rs1252058978
NM_018392.5(ZGRF1):c.142C>A (p.Leu48Met) rs61745597
NM_018392.5(ZGRF1):c.3509_3537del (p.Gly1170fs) rs1179408690
NM_018418.4(SPATA7):c.20_23del rs527236050
NM_018418.5(SPATA7):c.19+102del rs5810413
NM_018418.5(SPATA7):c.699_700del (p.Phe233_Ser234insTer) rs567890014
NM_018418.5(SPATA7):c.8_19+14del rs1595158200
NM_018451.5(CENPJ):c.61A>G (p.Met21Val) rs35498994
NM_018486.3(HDAC8):c.1019A>G (p.Tyr340Cys) rs1555949010
NM_018486.3(HDAC8):c.356C>T (p.Thr119Met) rs587779380
NM_018486.3(HDAC8):c.738-1G>A rs1602975601
NM_018489.3(ASH1L):c.1470G>T (p.Leu490Phe) rs1570942991
NM_018662.3(DISC1):c.1453C>T (p.Gln485Ter) rs1216921266
NM_018668.5(VPS33B):c.1031-8A>G rs2151669468
NM_018668.5(VPS33B):c.1519C>T (p.Arg507Ter) rs773306000
NM_018668.5(VPS33B):c.84T>A (p.Tyr28Ter) rs2041122746
NM_018684.4(ZC4H2):c.199C>T (p.Arg67Ter) rs1131691616
NM_018685.5(ANLN):c.1852G>T (p.Gly618Cys) rs1184529372
NM_018706.7(DHTKD1):c.2154_2154+1insT rs1588616299
NM_018714.3(COG1):c.2665dup (p.Arg889fs) rs747606976
NM_018838.5(NDUFA12):c.253G>T (p.Glu85Ter) rs1592704794
NM_018849.2(ABCB4):c.[431G>A;1210C>G]
NM_018896.5(CACNA1G):c.2979+15A>G rs1403007762
NM_018896.5(CACNA1G):c.354+5GT[13] rs3833150
NM_018896.5(CACNA1G):c.5605G>A (p.Ala1869Thr) rs2146293398
NM_018896.5(CACNA1G):c.5742C>A (p.His1914Gln) rs200604758
NM_018941.3(CLN8):c.[208C>T;792C>G]
NM_018941.4(CLN8):c.-125_-124+19dup rs1064793088
NM_018941.4(CLN8):c.209G>C (p.Arg70Pro) rs386834124
NM_018941.4(CLN8):c.473A>C (p.Tyr158Ser) rs386834130
NM_018941.4(CLN8):c.861G>C (p.Ter287Tyr) rs2129015348
NM_018972.4(GDAP1):c.674GAA[1] (p.Arg226del) rs1586806238
NM_018972.4(GDAP1):c.694+1G>A rs1183978180
NM_018975.4(TERF2IP):c.751A>G (p.Lys251Glu) rs1405253754
NM_018993.4(RIN2):c.1642G>A (p.Val548Met) rs181298473
NM_019032.6(ADAMTSL4):c.767_786del (p.Gln256fs) rs199473693
NM_019032.6(ADAMTSL4):c.950G>A (p.Trp317Ter) rs2101584216
NM_019055.6(ROBO4):c.595_599del (p.Glu198_Lys199insTer) rs1379903296
NM_019066.5(MAGEL2):c.2099dup (p.Val701fs) rs2140714298
NM_019066.5(MAGEL2):c.2199del (p.Glu734fs) rs1595332359
NM_019066.5(MAGEL2):c.2894G>A (p.Trp965Ter) rs2140713056
NM_019074.4(DLL4):c.1143C>G (p.Asn381Lys) rs1359929548
NM_019098.5(CNGB3):c.852+1G>T rs1201521544
NM_019109.5(ALG1):c.208+16_208+19dup rs35400794
NM_019109.5(ALG1):c.238A>G (p.Asn80Asp) rs755346143
NM_019109.5(ALG1):c.34_51dup (p.Cys12_Leu17dup) rs1436106795
NM_019597.5(HNRNPH2):c.616C>T (p.Arg206Trp) rs886039763
NM_019842.4(KCNQ5):c.1106C>A (p.Pro369Gln) rs1135401958
NM_019842.4(KCNQ5):c.730C>T (p.Arg244Cys) rs1314919218
NM_019844.4(SLCO1B3):c.205_209dup (p.Asp70fs) rs558592800
NM_019851.3(FGF20):c.391-1G>A rs1585100306
NM_020166.5(MCCC1):c.273+53A>C rs3732604
NM_020184.4(CNNM4):c.1547-1G>A rs1558993255
NM_020207.7(ERCC6L2):c.4241A>G (p.Lys1414Arg) rs1588056898
NM_020223.4(FAM20C):c.953_956+30dup rs771282640
NM_020247.4(ADCK3):c.[1042C>T;1651G>A]
NM_020247.5(COQ8A):c.1358del (p.Leu453fs) rs1271428051
NM_020297.4(ABCC9):c.3674A>G (p.Tyr1225Cys) rs200876028
NM_020297.4(ABCC9):c.4450-5del rs4148680
NM_020320.5(RARS2):c.-2A>G rs201150141
NM_020320.5(RARS2):c.1390C>T (p.Gln464Ter) rs753312969
NM_020320.5(RARS2):c.407T>C (p.Val136Ala) rs1057519014
NM_020320.5(RARS2):c.449T>C (p.Ile150Thr) rs1582576986
NM_020366.4(RPGRIP1):c.1949C>G (p.Pro650Arg) rs769167245
NM_020366.4(RPGRIP1):c.2367+23del rs781728563
NM_020366.4(RPGRIP1):c.2468A>G (p.Tyr823Cys) rs751521888
NM_020366.4(RPGRIP1):c.2759_2760insT (p.Gln920fs) rs61751270
NM_020366.4(RPGRIP1):c.2941C>T (p.Arg981Ter) rs780667159
NM_020401.4(NUP107):c.2544_2555del (p.Leu848_Leu852delinsPhe) rs2136056550
NM_020431.4(TMEM63C):c.343A>G (p.Thr115Ala) rs995111248
NM_020435.4(GJC2):c.1134_1144del (p.Ala379fs) rs1571908452
NM_020435.4(GJC2):c.1155del (p.Arg386fs) rs1196278287
NM_020549.5(CHAT):c.1381G>A (p.Val461Met) rs4838544
NM_020631.6(PLEKHG5):c.985-2A>G rs1553174566
NM_020632.3(ATP6V0A4):c.1755T>A (p.Cys585Ter) rs1584907924
NM_020632.3(ATP6V0A4):c.2451C>A (p.Phe817Leu) rs934266733
NM_020632.3(ATP6V0A4):c.369_373del (p.Glu123fs) rs1584934951
NM_020661.4(AICDA):c.417G>T (p.Met139Ile) rs1591744217
NM_020695.4(REXO1):c.1446_1449del (p.Lys483fs) rs2145278522
NM_020699.4(GATAD2B):c.1241G>A (p.Arg414Gln) rs1057521041
NM_020699.4(GATAD2B):c.33G>C (p.Leu11Phe) rs2101891606
NM_020699.4(GATAD2B):c.387del (p.Asp130fs) rs756062872
NM_020699.4(GATAD2B):c.574C>T (p.Gln192Ter) rs1570929904
NM_020738.4(KIDINS220):c.3415-4A>G rs1666821581
NM_020745.4(AARS2):c.1082C>T (p.Ser361Phe) rs2153355304
NM_020745.4(AARS2):c.2487+1G>C rs2153353848
NM_020745.4(AARS2):c.790G>A (p.Val264Met) rs2153356902
NM_020751.3(COG6):c.154-2A>G rs1593402927
NM_020759.3(STARD9):c.6300G>C (p.Arg2100Ser) rs1043312563
NM_020771.4(HACE1):c.1712C>A (p.Ser571Ter) rs1582418143
NM_020791.4(TAOK1):c.626G>A (p.Trp209Ter) rs2031080312
NM_020822.3(KCNT1):c.1193G>A (p.Arg398Gln) rs397515407
NM_020822.3(KCNT1):c.1225C>T (p.Pro409Ser) rs1588344733
NM_020822.3(KCNT1):c.2009-3C>T rs2131520063
NM_020822.3(KCNT1):c.2687T>A (p.Met896Lys) rs1060503696
NM_020822.3(KCNT1):c.3338C>A (p.Ala1113Asp) rs1193627908
NM_020822.3(KCNT1):c.600+71dup rs879903723
NM_020822.3(KCNT1):c.618G>T (p.Gln206His) rs958688368
NM_020822.3(KCNT1):c.841C>T (p.Leu281Phe) rs1057522914
NM_020832.3(ZNF687):c.2810C>A (p.Pro937His) rs148402804
NM_020832.3(ZNF687):c.3248C>G (p.Ser1083Cys) rs2101887552
NM_020859.4(SHROOM3):c.179G>T (p.Gly60Val) rs144435434
NM_020919.3(ALS2):c.[1911C>A;4261C>T]
NM_020919.4(ALS2):c.1911C>A (p.Tyr637Ter) rs863225294
NM_020919.4(ALS2):c.4261C>T (p.Arg1421Ter) rs863225293
NM_020928.2(ZSWIM6):c.57CGG[5] (p.Gly26del) rs565100893
NM_020937.4(FANCM):c.1571A>G (p.Glu524Gly) rs2139187033
NM_020937.4(FANCM):c.2074T>C (p.Tyr692His) rs2139226539
NM_020937.4(FANCM):c.2582T>G (p.Ile861Arg) rs901858017
NM_020937.4(FANCM):c.2586_2589del (p.Lys863fs) rs768006618
NM_020937.4(FANCM):c.3830A>G (p.Asn1277Ser) rs1594799862
NM_020937.4(FANCM):c.4007T>A (p.Val1336Asp) rs2139253003
NM_020937.4(FANCM):c.412G>A (p.Val138Ile) rs770929563
NM_020937.4(FANCM):c.4585G>A (p.Asp1529Asn) rs1245071059
NM_020937.4(FANCM):c.5353T>G (p.Leu1785Val) rs755563315
NM_020937.4(FANCM):c.5801T>C (p.Phe1934Ser) rs2139328386
NM_020937.4(FANCM):c.767A>G (p.Gln256Arg) rs2139151348
NM_020937.4(FANCM):c.857T>C (p.Val286Ala) rs2139151919
NM_020964.3(EPG5):c.1252+1G>T rs763788808
NM_020964.3(EPG5):c.3980A>G (p.Tyr1327Cys) rs1410796384
NM_020964.3(EPG5):c.5870-2A>G rs1599474108
NM_020964.3(EPG5):c.6577del (p.Val2193fs) rs1599445663
NM_020975.6(RET):c.1064-4G>T rs1837849469
NM_020975.6(RET):c.1377G>T (p.Glu459Asp) rs1564494424
NM_020975.6(RET):c.1466A>T (p.Asp489Val) rs923351888
NM_020975.6(RET):c.1467C>A (p.Asp489Glu) rs372648203
NM_020975.6(RET):c.1468C>G (p.Gln490Glu) rs1588871393
NM_020975.6(RET):c.1567A>C (p.Lys523Gln) rs766278774
NM_020975.6(RET):c.1876C>A (p.Gln626Lys) rs1255575160
NM_020975.6(RET):c.2090T>C (p.Leu697Pro) rs1293039001
NM_020975.6(RET):c.2304G>T (p.Glu768Asp) rs78014899
NM_020975.6(RET):c.2330A>G (p.Asn777Ser) rs377767415
NM_020975.6(RET):c.2342A>G (p.Gln781Arg) rs377767416
NM_020975.6(RET):c.2348A>C (p.Asn783Thr) rs587778656
NM_020975.6(RET):c.2432C>G (p.Ser811Cys) rs587778657
NM_020975.6(RET):c.2531G>A (p.Arg844Gln) rs55947360
NM_020975.6(RET):c.2592T>C (p.Tyr864=) rs1588877395
NM_020975.6(RET):c.2765C>A (p.Ser922Tyr) rs377767432
NM_020975.6(RET):c.2834T>C (p.Val945Ala) rs1408196943
NM_020975.6(RET):c.2847A>G (p.Gly949=) rs886046989
NM_020975.6(RET):c.3182T>C (p.Leu1061Pro) rs536486113
NM_020975.6(RET):c.428C>T (p.Ala143Val) rs1564490082
NM_020975.6(RET):c.44TGC[4] (p.Leu19del) rs768132465
NM_020975.6(RET):c.44TGC[8] (p.Leu19_Pro20insLeuLeuLeu) rs768132465
NM_020975.6(RET):c.74-50G>T rs766786245
NM_020975.6(RET):c.742G>A (p.Gly248Ser) rs1837733775
NM_020975.6(RET):c.938G>T (p.Arg313Leu) rs77702891
NM_020987.5(ANK3):c.1690-15_1690-14dup rs34796699
NM_020987.5(ANK3):c.1690-15dup rs34796699
NM_020987.5(ANK3):c.2659C>T (p.Gln887Ter) rs1590691724
NM_020988.3(GNAO1):c.124G>A (p.Gly42Arg) rs2143272046
NM_020988.3(GNAO1):c.143C>A (p.Thr48Asn) rs1555499800
NM_020988.3(GNAO1):c.448A>C (p.Asn150His) rs2037660713
NM_020988.3(GNAO1):c.451G>A (p.Asp151Asn) rs1596867702
NM_020988.3(GNAO1):c.517C>T (p.Gln173Ter) rs2143660643
NM_020988.3(GNAO1):c.607G>C (p.Gly203Arg) rs587777057
NM_020988.3(GNAO1):c.610G>C (p.Gly204Arg) rs2143664861
NM_020988.3(GNAO1):c.614A>C (p.Gln205Pro) rs2143664881
NM_020988.3(GNAO1):c.620C>T (p.Ser207Phe) rs1057518440
NM_020988.3(GNAO1):c.737A>T (p.Glu246Val) rs1114167431
NM_020988.3(GNAO1):c.748C>T (p.Leu250Phe) rs2143699618
NM_021008.4(DEAF1):c.1034G>C (p.Gly345Ala) rs2133380560
NM_021008.4(DEAF1):c.34_35dup (p.Leu13fs) rs1590028691
NM_021008.4(DEAF1):c.54_86del (p.Val19_Ala29del) rs982923800
NM_021008.4(DEAF1):c.682A>T (p.Ile228Phe) rs2133402700
NM_021008.4(DEAF1):c.84_98del (p.Ala29_Ala33del) rs755419607
NM_021008.4(DEAF1):c.880G>C (p.Val294Leu) rs1590008294
NM_021008.4(DEAF1):c.883A>G (p.Arg295Gly) rs2133384267
NM_021044.4(DHH):c.1004T>C (p.Leu335Pro) rs2120821285
NM_021072.4(HCN1):c.1897G>T (p.Val633Leu) rs756115935
NM_021072.4(HCN1):c.203GCG[4] (p.Gly72_Gly74del) rs747975797
NM_021072.4(HCN1):c.203GCG[6] (p.Gly74del) rs747975797
NM_021076.4(NEFH):c.2232_2249del (p.746_751SPEKAK[1]) rs59890097
NM_021120.4(DLG3):c.1879G>T (p.Ala627Ser) rs2147888795
NM_021224.6(ZNF462):c.1552del (p.Val518fs) rs1588064794
NM_021224.6(ZNF462):c.7190A>G (p.Glu2397Gly) rs1588212743
NM_021267.5(CERS1):c.248G>A (p.Arg83Gln) rs1601197103
NM_021267.5(CERS1):c.425T>A (p.Met142Lys) rs1601173083
NM_021625.5(TRPV4):c.1675_1698del (p.Leu559_Leu566del) rs1890129676
NM_021625.5(TRPV4):c.549G>C (p.Glu183Asp) rs141908793
NM_021728.4(OTX2):c.424C>A (p.Pro142Thr) rs753783256
NM_021800.3(DNAJC12):c.124C>T (p.His42Tyr) rs1055578473
NM_021830.5(TWNK):c.1309del (p.Gly436_Val437insTer) rs2133939509
NM_021871.4(FGA):c.1621G>C (p.Val541Leu) rs1578795080
NM_021922.3(FANCE):c.248+2T>C rs1581696699
NM_021939.4(FKBP10):c.831dup (p.Gly278fs) rs137853883
NM_021961.6(TEAD1):c.331-907AT[4] rs10543484
NM_021964.3(ZNF148):c.734A>G (p.His245Arg) rs2107833567
NM_021969.3(NR0B2):c.157_166del (p.His53fs) rs540387719
NM_021969.3(NR0B2):c.227del (p.Phe76fs) rs779783209
NM_022055.2(KCNK12):c.*8388G>T rs1573613933
NM_022055.2(KCNK12):c.*8538C>T
NM_022089.4(ATP13A2):c.1510G>C (p.Gly504Arg) rs121918227
NM_022089.4(ATP13A2):c.1749+2T>G rs74058364
NM_022095.4(ZNF335):c.3014_3015insG (p.Ser1007fs) rs2145359858
NM_022095.4(ZNF335):c.715GTG[3] (p.Val242del) rs759141702
NM_022124.6(CDH23):c.2761del (p.Gly920_Leu921insTer) rs2132739696
NM_022124.6(CDH23):c.6433G>A (p.Val2145Met) rs780523589
NM_022124.6(CDH23):c.9461A>T (p.Glu3154Val) rs998064994
NM_022162.3(NOD2):c.3019dup (p.Leu1007fs) rs2066847
NM_022168.4(IFIH1):c.229C>T (p.Arg77Trp) rs147278787
NM_022168.4(IFIH1):c.2336G>A (p.Arg779His) rs587777446
NM_022168.4(IFIH1):c.2402G>A (p.Cys801Tyr) rs1576222807
NM_022356.4(P3H1):c.838C>T (p.Gln280Ter) rs1652551021
NM_022455.5(NSD1):c.1237-90del rs11322143
NM_022455.5(NSD1):c.1727dup (p.Asn576fs) rs1299932363
NM_022455.5(NSD1):c.1743del (p.Glu581fs) rs794729232
NM_022455.5(NSD1):c.2099A>G (p.Gln700Arg) rs2149844607
NM_022455.5(NSD1):c.2297C>G (p.Ser766Trp) rs773591859
NM_022455.5(NSD1):c.2993T>A (p.Leu998Ter) rs2149846817
NM_022455.5(NSD1):c.3922-1G>C rs1581407682
NM_022455.5(NSD1):c.4108C>T (p.Gln1370Ter) rs1581408152
NM_022455.5(NSD1):c.4193-1G>A rs1581411423
NM_022455.5(NSD1):c.4378+15_4378+16del rs2149894868
NM_022455.5(NSD1):c.4817G>A (p.Cys1606Tyr) rs587784127
NM_022455.5(NSD1):c.4966+96dup rs373383515
NM_022455.5(NSD1):c.5303+1G>A rs587784141
NM_022455.5(NSD1):c.5812A>T (p.Lys1938Ter) rs1581527842
NM_022455.5(NSD1):c.6088_6089del (p.Gln2030fs) rs1581535570
NM_022455.5(NSD1):c.6341C>G (p.Thr2114Arg) rs914580476
NM_022455.5(NSD1):c.6366del (p.Phe2122fs) rs587784192
NM_022455.5(NSD1):c.6486T>G (p.His2162Gln) rs2127279165
NM_022455.5(NSD1):c.6553C>T (p.Gln2185Ter) rs1581563059
NM_022455.5(NSD1):c.6557A>G (p.His2186Arg) rs587784208
NM_022464.5(SIL1):c.158_159del (p.Arg53fs)
NM_022489.4(INF2):c.3712GAT[1] (p.Asp1239del) rs1236644699
NM_022552.5(DNMT3A):c.1676G>A (p.Cys559Tyr) rs1313738991
NM_022552.5(DNMT3A):c.2204A>G (p.Tyr735Cys) rs147828672
NM_022552.5(DNMT3A):c.2644C>T (p.Arg882Cys) rs377577594
NM_022552.5(DNMT3A):c.2645G>A (p.Arg882His) rs147001633
NM_022731.5(NUCKS1):c.-42_-41insCCCCCCCCCCCCCCCCCCCCCCCCCG rs2102454461
NM_022773.4(LMF1):c.1252G>A (p.Glu418Lys) rs2151699919
NM_022773.4(LMF1):c.1264C>T (p.Gln422Ter) rs887346658
NM_022893.4(BCL11A):c.1244C>G (p.Thr415Ser) rs2103848148
NM_023067.4(FOXL2):c.948_955del (p.Pro317fs) rs1576469579
NM_023110.3(FGFR1):c.1469G>T (p.Gly490Val) rs1586172462
NM_024057.4(NUP37):c.153_156+3del rs770156086
NM_024120.5(NDUFAF5):c.146G>T (p.Arg49Leu) rs1600305570
NM_024306.4(FA2H):c.[117C>A];[150_159dupGCGGGCCAGG]
NM_024306.5(FA2H):c.160_169del (p.Ala54fs) rs794729214
NM_024306.5(FA2H):c.340_363+8del rs1597556143
NM_024306.5(FA2H):c.506+1G>C rs753097023
NM_024312.5(GNPTAB):c.1208T>C (p.Ile403Thr) rs281864973
NM_024312.5(GNPTAB):c.3456C>A (p.Asp1152Glu) rs1594204203
NM_024408.4(NOTCH2):c.57C>G (p.Cys19Trp) rs11810554
NM_024408.4(NOTCH2):c.6832dup (p.Thr2278fs) rs2101142928
NM_024411.5(PDYN):c.217A>G (p.Thr73Ala) rs786205212
NM_024411.5(PDYN):c.658_659del (p.Trp220fs) rs748307861
NM_024422.6(DSC2):c.2365GGA[1] (p.Gly790del) rs377272752
NM_024426.6(WT1):c.1354+4_1354+11del rs1590332435
NM_024426.6(WT1):c.1399C>T (p.Arg467Trp) rs121907900
NM_024426.6(WT1):c.1478G>A (p.Ser493Asn) rs763551837
NM_024426.6(WT1):c.1541A>G (p.Asn514Ser) rs1554938531
NM_024426.6(WT1):c.156G>T (p.Glu52Asp) rs1565002339
NM_024426.6(WT1):c.197C>A (p.Ala66Glu) rs1341675324
NM_024426.6(WT1):c.205T>A (p.Ser69Thr) rs1565002158
NM_024426.6(WT1):c.28G>T (p.Ala10Ser) rs1351753257
NM_024426.6(WT1):c.29C>A (p.Ala10Asp) rs997104313
NM_024426.6(WT1):c.314C>A (p.Ala105Glu) rs948061247
NM_024426.6(WT1):c.391C>T (p.Pro131Ser) rs564706633
NM_024426.6(WT1):c.471C>A (p.His157Gln) rs753238865
NM_024426.6(WT1):c.472G>T (p.Glu158Ter) rs1565001383
NM_024426.6(WT1):c.480G>C (p.Gln160His) rs758900425
NM_024426.6(WT1):c.535G>A (p.Ala179Thr) rs2133102397
NM_024426.6(WT1):c.541C>A (p.Arg181Ser) rs1565001278
NM_024426.6(WT1):c.562C>T (p.Pro188Ser) rs1565001232
NM_024426.6(WT1):c.610G>T (p.Ala204Ser) rs9332973
NM_024426.6(WT1):c.649A>G (p.Ile217Val) rs1384974578
NM_024426.6(WT1):c.662-2031G>A rs1005247939
NM_024426.6(WT1):c.784+6C>T rs1455790542
NM_024496.4(IRF2BPL):c.1739C>T (p.Thr580Ile) rs1243852191
NM_024496.4(IRF2BPL):c.562C>T (p.Arg188Ter) rs1345176461
NM_024496.4(IRF2BPL):c.599_608del (p.Pro200fs) rs1594797739
NM_024503.5(HIVEP3):c.5000C>T (p.Ala1667Val) rs2149103292
NM_024528.4(NKAP):c.961A>G (p.Met321Val) rs2147845271
NM_024529.5(CDC73):c.1450C>T (p.Arg484Cys) rs1225502334
NM_024529.5(CDC73):c.220dup (p.Tyr74fs) rs1572142597
NM_024577.4(SH3TC2):c.2189del (p.Gly730fs) rs1580900473
NM_024577.4(SH3TC2):c.731+2T>G rs2127400622
NM_024577.4(SH3TC2):c.806-3C>T rs1241993356
NM_024577.4(SH3TC2):c.974del (p.Asn325fs) rs1580907885
NM_024592.5(SRD5A3):c.697+1G>C rs1719958144
NM_024649.5(BBS1):c.1243del (p.Val415fs) rs1590772920
NM_024665.7(TBL1XR1):c.1100G>T (p.Cys367Phe) rs1576993654
NM_024665.7(TBL1XR1):c.1184A>G (p.Tyr395Cys) rs1576982808
NM_024665.7(TBL1XR1):c.1340G>A (p.Ser447Asn) rs2108407962
NM_024665.7(TBL1XR1):c.226C>T (p.Arg76Ter) rs1577029680
NM_024665.7(TBL1XR1):c.703-2A>G rs1577018466
NM_024675.4(PALB2):c.-23C>T rs1597106322
NM_024675.4(PALB2):c.-66C>T rs1597106467
NM_024675.4(PALB2):c.101G>A (p.Arg34His) rs144944814
NM_024675.4(PALB2):c.1042C>T (p.Gln348Ter) rs375699023
NM_024675.4(PALB2):c.1089T>C (p.Asp363=) rs1597097155
NM_024675.4(PALB2):c.109C>T (p.Arg37Cys) rs200048921
NM_024675.4(PALB2):c.1192del (p.Val398fs) rs1555461407
NM_024675.4(PALB2):c.1217C>T (p.Ala406Val) rs1060502757
NM_024675.4(PALB2):c.1226A>G (p.Tyr409Cys) rs878855097
NM_024675.4(PALB2):c.1252A>G (p.Asn418Asp) rs786202943
NM_024675.4(PALB2):c.1424dup (p.Arg476fs) rs1555461294
NM_024675.4(PALB2):c.1432T>C (p.Ser478Pro) rs1597096071
NM_024675.4(PALB2):c.1539dup (p.Gly514fs) rs1567220784
NM_024675.4(PALB2):c.157G>A (p.Glu53Lys) rs1184603042
NM_024675.4(PALB2):c.1588C>T (p.Leu530Phe) rs876659671
NM_024675.4(PALB2):c.1671_1674del (p.Ile558fs) rs1060502734
NM_024675.4(PALB2):c.1685-28T>C rs1597091553
NM_024675.4(PALB2):c.1748T>G (p.Leu583Trp) rs587782151
NM_024675.4(PALB2):c.1848dup (p.Glu617Ter) rs1567218690
NM_024675.4(PALB2):c.1917G>T (p.Glu639Asp) rs1597090787
NM_024675.4(PALB2):c.191C>T (p.Ser64Leu) rs1567223942
NM_024675.4(PALB2):c.1982C>G (p.Pro661Arg) rs71379822
NM_024675.4(PALB2):c.2053A>G (p.Lys685Glu) rs876660397
NM_024675.4(PALB2):c.211+1G>A rs1555462026
NM_024675.4(PALB2):c.2116_2129delinsG (p.Thr706fs) rs1567218036
NM_024675.4(PALB2):c.2117_2129del (p.Thr706fs) rs1597090031
NM_024675.4(PALB2):c.212-1G>T rs1597099910
NM_024675.4(PALB2):c.212-50dup rs759760268
NM_024675.4(PALB2):c.212-8C>T rs1387711045
NM_024675.4(PALB2):c.212-9C>T rs1555461884
NM_024675.4(PALB2):c.2185_2186insA (p.Pro729fs) rs1597089845
NM_024675.4(PALB2):c.2218C>T (p.Gln740Ter) rs1555460445
NM_024675.4(PALB2):c.226del (p.Ile76fs) rs587782443
NM_024675.4(PALB2):c.2377G>A (p.Gly793Ser) rs878855109
NM_024675.4(PALB2):c.2398T>A (p.Cys800Ser) rs1567217401
NM_024675.4(PALB2):c.2425A>G (p.Thr809Ala) rs753204710
NM_024675.4(PALB2):c.2448C>G (p.Phe816Leu) rs876659879
NM_024675.4(PALB2):c.2466G>T (p.Gln822His) rs1157451265
NM_024675.4(PALB2):c.2504C>T (p.Ser835Phe) rs876660357
NM_024675.4(PALB2):c.2506G>A (p.Val836Ile) rs536644825
NM_024675.4(PALB2):c.2514+10A>G rs1032636199
NM_024675.4(PALB2):c.2566C>T (p.Gln856Ter) rs770996884
NM_024675.4(PALB2):c.2587-1G>C rs761214886
NM_024675.4(PALB2):c.2770_2773dup (p.Val925fs) rs1597082866
NM_024675.4(PALB2):c.2927G>C (p.Arg976Thr) rs1567213697
NM_024675.4(PALB2):c.2961A>G (p.Gln987=) rs1555459530
NM_024675.4(PALB2):c.2964del (p.Gln988_Val989insTer) rs587781840
NM_024675.4(PALB2):c.2996+5G>T rs879254193
NM_024675.4(PALB2):c.2996+9del rs769414858
NM_024675.4(PALB2):c.2998G>C (p.Gly1000Arg) rs1966773345
NM_024675.4(PALB2):c.3008del (p.Asn1003fs) rs1567213009
NM_024675.4(PALB2):c.3027del (p.Glu1010fs) rs876659378
NM_024675.4(PALB2):c.3085A>G (p.Thr1029Ala) rs1567212837
NM_024675.4(PALB2):c.311C>T (p.Pro104Leu) rs1555461835
NM_024675.4(PALB2):c.3130C>T (p.Gln1044Ter) rs766394024
NM_024675.4(PALB2):c.3184A>G (p.Lys1062Glu) rs1567209813
NM_024675.4(PALB2):c.3202-1G>C rs515726111
NM_024675.4(PALB2):c.3233G>C (p.Cys1078Ser) rs1567206945
NM_024675.4(PALB2):c.3271C>T (p.Gln1091Ter) rs864622138
NM_024675.4(PALB2):c.3307G>A (p.Val1103Met) rs201657283
NM_024675.4(PALB2):c.3332del (p.Pro1111fs) rs1597066595
NM_024675.4(PALB2):c.3350+4A>G rs180177136
NM_024675.4(PALB2):c.3350G>A (p.Arg1117Lys) rs876659859
NM_024675.4(PALB2):c.3351-48del rs140806991
NM_024675.4(PALB2):c.3492G>A (p.Trp1164Ter) rs587782217
NM_024675.4(PALB2):c.38A>G (p.Glu13Gly) rs876658288
NM_024675.4(PALB2):c.43G>T (p.Glu15Ter) rs730881884
NM_024675.4(PALB2):c.49-432A>G rs1597102250
NM_024675.4(PALB2):c.509_510del (p.Arg170fs) rs515726123
NM_024675.4(PALB2):c.50T>G (p.Leu17Ter) rs1567224232
NM_024675.4(PALB2):c.538G>A (p.Glu180Lys) rs750782778
NM_024675.4(PALB2):c.625del (p.Ser209fs) rs1597098739
NM_024675.4(PALB2):c.676A>G (p.Thr226Ala) rs1555461680
NM_024675.4(PALB2):c.715del (p.Arg239fs) rs1567222476
NM_024675.4(PALB2):c.7G>T (p.Glu3Ter) rs878855123
NM_024675.4(PALB2):c.874C>A (p.Gln292Lys) rs1335897946
NM_024675.4(PALB2):c.93dup (p.Leu32fs) rs864622498
NM_024675.4(PALB2):c.956C>T (p.Ser319Phe) rs200144401
NM_024685.4(BBS10):c.1315del (p.Gln439fs) rs1592491950
NM_024685.4(BBS10):c.1418T>C (p.Val473Ala) rs763473990
NM_024757.5(EHMT1):c.1292_1296del (p.Gly431fs) rs2136218711
NM_024757.5(EHMT1):c.1553C>G (p.Pro518Arg) rs1287556019
NM_024757.5(EHMT1):c.2018+1G>A rs1950997931
NM_024757.5(EHMT1):c.2976del (p.Ser992fs) rs1588854011
NM_024757.5(EHMT1):c.3252C>G (p.Tyr1084Ter) rs368087892
NM_024757.5(EHMT1):c.3310G>T (p.Glu1104Ter) rs886041093
NM_024757.5(EHMT1):c.3709C>T (p.Gln1237Ter) rs1325669112
NM_024757.5(EHMT1):c.389_397del (p.Pro130_Leu132del) rs1588328189
NM_024757.5(EHMT1):c.824-2A>T rs866090137
NM_024757.5(EHMT1):c.824-2del rs1234654104
NM_024757.5(EHMT1):c.82G>C (p.Glu28Gln) rs1342402816
NM_024818.6(UBA5):c.1A>G (p.Met1Val) rs2107921941
NM_024818.6(UBA5):c.36_37del (p.Gln13fs) rs2107922089
NM_024852.4(AGO3):c.1076A>G (p.Asp359Gly) rs2148814635
NM_024852.4(AGO3):c.1475T>C (p.Phe492Ser) rs2148833931
NM_024915.4(GRHL2):c.21-2A>G rs1811191593
NM_024989.4(PGAP1):c.1066A>T (p.Lys356Ter) rs1576164991
NM_024989.4(PGAP1):c.2274C>G (p.Tyr758Ter) rs1576086299
NM_024996.7(GFM1):c.1781G>A (p.Cys594Tyr) rs1576790457
NM_025000.4(DCAF17):c.732+70dup rs58636477
NM_025074.7(FRAS1):c.11445+68_11445+69del rs3062747
NM_025077.4(TOE1):c.52+76A>G rs547694371
NM_025081.3(NYNRIN):c.2650G>A (p.Val884Ile) rs751644731
NM_025081.3(NYNRIN):c.5600C>G (p.Pro1867Arg) rs2139356460
NM_025099.6(CTC1):c.2346del (p.Leu783fs) rs761076987
NM_025099.6(CTC1):c.248G>A (p.Ser83Asn) rs78870822
NM_025114.4(CEP290):c.14T>C (p.Ile5Thr) rs1434632102
NM_025114.4(CEP290):c.1522+1G>C rs1592639588
NM_025114.4(CEP290):c.1666del (p.Ile556fs) rs727503855
NM_025114.4(CEP290):c.1666dup (p.Ile556fs) rs727503855
NM_025114.4(CEP290):c.223A>G (p.Lys75Glu) rs779010679
NM_025114.4(CEP290):c.4704G>C (p.Glu1568Asp) rs1592836704
NM_025114.4(CEP290):c.5777G>C (p.Arg1926Pro) rs778030031
NM_025114.4(CEP290):c.6271-8T>G rs1039146791
NM_025114.4(CEP290):c.881C>G (p.Ser294Ter) rs1592668925
NM_025132.4(WDR19):c.108T>G (p.Tyr36Ter) rs1577822861
NM_025132.4(WDR19):c.2786G>C (p.Arg929Pro) rs201685269
NM_025137.4(SPG11):c.193G>A (p.Val65Met) rs999651004
NM_025137.4(SPG11):c.2013_2026dup (p.Lys676fs) rs1595898078
NM_025137.4(SPG11):c.2048G>A (p.Trp683Ter) rs1595898030
NM_025137.4(SPG11):c.2444+1G>C rs312262743
NM_025137.4(SPG11):c.334G>T (p.Glu112Ter) rs1595940058
NM_025137.4(SPG11):c.3809T>A (p.Val1270Asp) rs1555451521
NM_025137.4(SPG11):c.4434+1G>A rs1567148391
NM_025137.4(SPG11):c.529_533del (p.Ile177fs) rs312262716
NM_025137.4(SPG11):c.592C>T (p.Gln198Ter) rs863225440
NM_025137.4(SPG11):c.6632dup (p.Pro2212fs) rs863225439
NM_025137.4(SPG11):c.6715G>A (p.Ala2239Thr) rs2140916975
NM_025137.4(SPG11):c.6832_6833del (p.Ser2278fs) rs312262784
NM_025137.4(SPG11):c.7158ACA[1] (p.Gln2387del) rs376599651
NM_025150.5(TARS2):c.1401+5C>T rs1469795308
NM_025243.4(SLC19A3):c.74dup (p.Ser26fs) rs786205213
NM_025243.4(SLC19A3):c.980-4del rs11334205
NM_030632.3(ASXL3):c.1884_1885del (p.Gly629fs) rs1599564118
NM_030632.3(ASXL3):c.3330_3333dup (p.Ala1112fs) rs1599570895
NM_030632.3(ASXL3):c.3807T>G (p.Ser1269Arg) rs2145425648
NM_030665.4(RAI1):c.3778GAG[1] (p.Glu1261del) rs149716029
NM_030665.4(RAI1):c.4814del (p.Asp1605fs) rs1598093659
NM_030665.4(RAI1):c.4958C>T (p.Pro1653Leu) rs931068297
NM_030665.4(RAI1):c.5709+5G>C rs2143006568
NM_030787.4(CFHR5):c.486dup (p.Glu163fs) rs565457964
NM_030928.4(CDT1):c.248C>T (p.Pro83Leu) rs139038990
NM_030958.3(SLCO5A1):c.254C>A (p.Ala85Asp) rs966779038
NM_030962.4(SBF2):c.1892C>A (p.Ala631Asp) rs376057124
NM_030962.4(SBF2):c.4877del (p.Pro1626fs) rs1852575488
NM_030962.4(SBF2):c.5203C>T (p.Gln1735Ter) rs1590076969
NM_031220.4(PITPNM3):c.2177T>G (p.Met726Arg) rs761710050
NM_031229.4(RBCK1):c.994_999del (p.Cys332_Ser333del) rs2122282189
NM_031263.4(HNRNPK):c.1109A>G (p.Asp370Gly) rs2133020093
NM_031263.4(HNRNPK):c.1240C>T (p.Arg414Cys) rs1348162749
NM_031263.4(HNRNPK):c.214-35A>G rs1554700718
NM_031407.7(HUWE1):c.11215C>G (p.Arg3739Gly) rs2147135304
NM_031407.7(HUWE1):c.329G>A (p.Arg110Gln) rs1557036768
NM_031407.7(HUWE1):c.4546C>G (p.Gln1516Glu) rs1602910127
NM_031433.4(MFRP):c.498del (p.Asn167fs) rs587776596
NM_031433.4(MFRP):c.666del (p.Thr223fs) rs1435204327
NM_031844.3(HNRNPU):c.112C>A (p.Leu38Ile) rs2102991012
NM_031844.3(HNRNPU):c.1681dup (p.Gln561fs) rs1573330458
NM_031844.3(HNRNPU):c.1900C>T (p.Leu634Phe) rs2102985676
NM_031844.3(HNRNPU):c.1905_1906del (p.Lys635fs) rs2102985675
NM_031844.3(HNRNPU):c.223G>T (p.Glu75Ter) rs773969888
NM_031844.3(HNRNPU):c.2304_2305del (p.Gly769fs) rs794729648
NM_031844.3(HNRNPU):c.336_353del (p.Ala113_Ser118del) rs2102990769
NM_031844.3(HNRNPU):c.415C>T (p.Gln139Ter) rs1573337948
NM_031844.3(HNRNPU):c.651_660del (p.Gly218fs) rs779453109
NM_031844.3(HNRNPU):c.804-9_804-6del rs2102989400
NM_031885.5(BBS2):c.1546C>T (p.Gln516Ter) rs1597012997
NM_032043.3(BRIP1):c.-165A>G rs1603369145
NM_032043.3(BRIP1):c.1000G>T (p.Ala334Ser) rs535414791
NM_032043.3(BRIP1):c.1014A>G (p.Glu338=) rs1490732516
NM_032043.3(BRIP1):c.1066C>G (p.Arg356Gly) rs730881633
NM_032043.3(BRIP1):c.1131A>G (p.Ile377Met) rs927733243
NM_032043.3(BRIP1):c.1336A>C (p.Ile446Leu) rs786203496
NM_032043.3(BRIP1):c.1340+1G>A rs1555607022
NM_032043.3(BRIP1):c.1341-3C>G rs864622597
NM_032043.3(BRIP1):c.1355A>G (p.Asn452Ser) rs1603340413
NM_032043.3(BRIP1):c.1427C>G (p.Thr476Ser) rs1567825164
NM_032043.3(BRIP1):c.1616G>A (p.Arg539Lys) rs199616792
NM_032043.3(BRIP1):c.1838C>T (p.Thr613Ile) rs864622345
NM_032043.3(BRIP1):c.1871C>T (p.Ser624Leu) rs587781321
NM_032043.3(BRIP1):c.1919T>C (p.Ile640Thr) rs1567812341
NM_032043.3(BRIP1):c.1921A>T (p.Ile641Phe) rs1603333007
NM_032043.3(BRIP1):c.1932A>T (p.Ser644=) rs1603332998
NM_032043.3(BRIP1):c.1934A>G (p.Gln645Arg) rs876660648
NM_032043.3(BRIP1):c.1935+4A>T rs1603332968
NM_032043.3(BRIP1):c.1935+5G>A rs1209289625
NM_032043.3(BRIP1):c.1935+8G>T rs767048212
NM_032043.3(BRIP1):c.1936-2A>C rs878855143
NM_032043.3(BRIP1):c.1941G>C (p.Trp647Cys) rs786202760
NM_032043.3(BRIP1):c.205+1del rs1057517648
NM_032043.3(BRIP1):c.2078_2079del (p.Cys693fs) rs1603328466
NM_032043.3(BRIP1):c.2097+2T>A rs2077532634
NM_032043.3(BRIP1):c.2098-8C>T rs917048033
NM_032043.3(BRIP1):c.2181A>G (p.Pro727=) rs1603304559
NM_032043.3(BRIP1):c.2379+5G>C rs1567779316
NM_032043.3(BRIP1):c.2379+7C>T rs1057520464
NM_032043.3(BRIP1):c.2497A>G (p.Ile833Val) rs199831248
NM_032043.3(BRIP1):c.2575+2dup rs1555574711
NM_032043.3(BRIP1):c.266C>G (p.Ala89Gly) rs1349422972
NM_032043.3(BRIP1):c.2692G>A (p.Asp898Asn) rs2144114911
NM_032043.3(BRIP1):c.2876C>G (p.Pro959Arg) rs1567731036
NM_032043.3(BRIP1):c.2905+31T>C rs1603276473
NM_032043.3(BRIP1):c.2917T>A (p.Phe973Ile) rs1060501727
NM_032043.3(BRIP1):c.2961A>C (p.Arg987Ser) rs1567729555
NM_032043.3(BRIP1):c.2990_2993del (p.Thr997fs) rs771028677
NM_032043.3(BRIP1):c.2994G>C (p.Lys998Asn) rs757225144
NM_032043.3(BRIP1):c.30del (p.Ile10fs) rs1567878234
NM_032043.3(BRIP1):c.3148A>C (p.Thr1050Pro) rs1567728933
NM_032043.3(BRIP1):c.3260dup (p.Asn1087fs) rs771654971
NM_032043.3(BRIP1):c.3275C>A (p.Pro1092Gln) rs587780830
NM_032043.3(BRIP1):c.3412G>A (p.Asp1138Asn) rs587780249
NM_032043.3(BRIP1):c.3651G>T (p.Trp1217Cys) rs542698396
NM_032043.3(BRIP1):c.3691A>G (p.Ile1231Val) rs876659290
NM_032043.3(BRIP1):c.3731T>A (p.Met1244Lys) rs1260819959
NM_032043.3(BRIP1):c.3749A>T (p.Ter1250Leu) rs1603274602
NM_032043.3(BRIP1):c.380-6T>C rs780921390
NM_032043.3(BRIP1):c.408A>C (p.Ala136=) rs876660891
NM_032043.3(BRIP1):c.439T>C (p.Tyr147His) rs1567868580
NM_032043.3(BRIP1):c.507+9_507+10del rs747185394
NM_032043.3(BRIP1):c.588C>G (p.Asn196Lys) rs758851721
NM_032043.3(BRIP1):c.629C>A (p.Pro210His) rs140097800
NM_032043.3(BRIP1):c.671G>C (p.Gly224Ala) rs990737815
NM_032043.3(BRIP1):c.720del (p.Lys240fs) rs1567838246
NM_032043.3(BRIP1):c.93+4_93+7del rs1224034842
NM_032119.4(ADGRV1):c.14467dup (p.Val4823fs) rs1581135405
NM_032119.4(ADGRV1):c.3133del (p.Ala1045fs) rs1439933768
NM_032119.4(ADGRV1):c.5830G>A (p.Asp1944Asn) rs41302834
NM_032119.4(ADGRV1):c.9208G>T (p.Asp3070Tyr) rs1580845586
NM_032271.3(TRAF7):c.159C>A (p.Tyr53Ter) rs2141279710
NM_032271.3(TRAF7):c.1964G>A (p.Arg655Gln) rs1331463984
NM_032415.7(CARD11):c.874C>T (p.Arg292Cys) rs771790639
NM_032444.4(SLX4):c.1186C>G (p.Leu396Val) rs1596528058
NM_032444.4(SLX4):c.3607C>G (p.Pro1203Ala) rs745508761
NM_032444.4(SLX4):c.3830G>A (p.Ser1277Asn) rs1596520868
NM_032444.4(SLX4):c.4088C>A (p.Ser1363Ter) rs1596520443
NM_032444.4(SLX4):c.421G>T (p.Gly141Trp) rs137976282
NM_032444.4(SLX4):c.4391_4403del (p.Ser1464fs) rs1596519879
NM_032444.4(SLX4):c.4405del (p.Ser1469fs) rs1596519854
NM_032444.4(SLX4):c.4881del (p.Thr1628fs) rs1596515638
NM_032520.5(GNPTG):c.735C>A (p.Cys245Ter) rs2141864418
NM_032545.4(CFC1):c.433G>A (p.Ala145Thr) rs199715380
NM_032638.5(GATA2):c.1045T>C (p.Cys349Arg) rs1576745260
NM_032638.5(GATA2):c.1046G>A (p.Cys349Tyr) rs1576745256
NM_032638.5(GATA2):c.1084C>T (p.Arg362Ter) rs1553770510
NM_032638.5(GATA2):c.661A>C (p.Met221Leu) rs1252930387
NM_032638.5(GATA2):c.831del (p.Phe278fs) rs1576748378
NM_032656.4(DHX37):c.346_347del (p.Thr116fs) rs2135969716
NM_032737.4(LMNB2):c.1275G>C (p.Leu425Phe) rs1971785327
NM_032776.3(JMJD1C):c.4962A>T (p.Gln1654His) rs1846669314
NM_032776.3(JMJD1C):c.5309T>C (p.Ile1770Thr) rs1361979736
NM_032776.3(JMJD1C):c.7168C>G (p.Leu2390Val) rs767321856
NM_032806.6(POMGNT2):c.607_618del (p.Phe203_Tyr206del) rs774277094
NM_032856.5(WDR73):c.710dup (p.Gly238fs) rs1282630153
NM_032856.5(WDR73):c.926ATGGAACACGGAGCCAAG[1] (p.309DGTRSQ[1]) rs11267906
NM_032861.4(SERAC1):c.21C>G (p.Cys7Trp) rs139301835
NM_032977.4(CASP10):c.1321G>A (p.Ala441Thr) rs760580885
NM_032977.4(CASP10):c.1504del (p.Gln502fs) rs2126062115
NM_033004.4(NLRP1):c.4181C>A (p.Thr1394Lys) rs1597390369
NM_033100.4(CDHR1):c.1782+1del rs1589307705
NM_033100.4(CDHR1):c.2197G>T (p.Val733Phe) rs1589309412
NM_033100.4(CDHR1):c.348+5G>T rs1412093692
NM_033109.5(PNPT1):c.526G>A (p.Ala176Thr) rs1365308037
NM_033163.5(FGF8):c.506C>T (p.Ala169Val) rs1589809739
NM_033337.3(CAV3):c.10_17del (p.Glu4fs) rs778914298
NM_033337.3(CAV3):c.134T>A (p.Ile45Asn) rs1553614409
NM_033343.4(LHX4):c.608T>G (p.Val203Gly) rs201275928
NM_033343.4(LHX4):c.724_726del (p.Lys242del) rs771109452
NM_033360.4(KRAS):c.189G>T (p.Glu63Asp) rs1592808357
NM_033380.3(COL4A5):c.1138G>T (p.Gly380Cys) rs2066342908
NM_033380.3(COL4A5):c.1588-10C>G rs1603290097
NM_033380.3(COL4A5):c.1817G>A (p.Gly606Glu) rs2147813326
NM_033380.3(COL4A5):c.2005G>T (p.Gly669Cys) rs281874684
NM_033380.3(COL4A5):c.2395+2T>A rs1603293639
NM_033380.3(COL4A5):c.2722G>A (p.Gly908Arg) rs281874703
NM_033380.3(COL4A5):c.2999G>T (p.Gly1000Val) rs281874709
NM_033380.3(COL4A5):c.321+2T>G rs1603279005
NM_033380.3(COL4A5):c.379A>G (p.Thr127Ala) rs2147746841
NM_033380.3(COL4A5):c.412G>T (p.Gly138Cys) rs767619131
NM_033380.3(COL4A5):c.4599C>T (p.Cys1533=) rs1603326524
NM_033380.3(COL4A5):c.4822-1G>T rs1603328372
NM_033409.4(SLC52A3):c.446G>A (p.Gly149Asp) rs749668781
NM_033409.4(SLC52A3):c.639C>G (p.Tyr213Ter) rs778363575
NM_033453.4(ITPA):c.124+2T>C rs1408254396
NM_033517.1(SHANK3):c.3424_3425del (p.Leu1142fs) rs1555910143
NM_033629.6(TREX1):c.182C>A (p.Pro61Gln) rs777034646
NM_052867.4(NALCN):c.3955-50CT[11] rs34229756
NM_052874.5(STX1B):c.686_688del (p.Ile229_Asp230delinsAsn) rs1596714579
NM_052876.4(NACC1):c.979G>C (p.Ala327Pro) rs759246551
NM_052989.3(IFT122):c.1493T>C (p.Leu498Pro) rs2108328020
NM_053274.3(GLMN):c.1083del (p.Thr363fs) rs1570898051
NM_054012.4(ASS1):c.323G>T (p.Arg108Leu) rs35269064
NM_054012.4(ASS1):c.991T>C (p.Cys331Arg) rs1055308437
NM_054021.2(GPR101):c.924G>C (p.Glu308Asp) rs73637412
NM_054027.6(ANKH):c.1126TTC[1] (p.Phe377del) rs121908405
NM_057175.5(NAA15):c.569G>A (p.Ser190Asn) rs1560966806
NM_057176.3(BSND):c.784del (p.Ala262fs) rs2100209749
NM_058172.6(ANTXR2):c.1069G>C (p.Ala357Pro) rs12647691
NM_058179.4(PSAT1):c.121+5G>A rs372232840
NM_058195.4(CDKN2A):c.194-3653G>A rs1800586
NM_058195.4(CDKN2A):c.194-3653G>T rs1800586
NM_058195.4(CDKN2A):c.194-3834C>G rs917599759
NM_058195.4(CDKN2A):c.194-3853_194-3852insGCG rs1587341124
NM_058195.4(CDKN2A):c.194-3854_194-3853insGTG rs1587341128
NM_058216.3(RAD51C):c.1000del (p.Glu334fs) rs1567817415
NM_058216.3(RAD51C):c.1026+5_1026+7del rs587781410
NM_058216.3(RAD51C):c.1042G>A (p.Asp348Asn) rs1555605533
NM_058216.3(RAD51C):c.115C>T (p.Leu39=) rs759149207
NM_058216.3(RAD51C):c.127C>T (p.Pro43Ser) rs1442559963
NM_058216.3(RAD51C):c.145+15T>C rs780116924
NM_058216.3(RAD51C):c.16T>G (p.Phe6Val) rs749498443
NM_058216.3(RAD51C):c.262C>T (p.Leu88=) rs786201383
NM_058216.3(RAD51C):c.32A>G (p.Gln11Arg) rs730881937
NM_058216.3(RAD51C):c.335G>C (p.Gly112Ala) rs370212314
NM_058216.3(RAD51C):c.386T>C (p.Val129Ala) rs876660641
NM_058216.3(RAD51C):c.404G>A (p.Cys135Tyr) rs767796996
NM_058216.3(RAD51C):c.461A>G (p.Glu154Gly) rs758847241
NM_058216.3(RAD51C):c.705+3A>G rs878855179
NM_058216.3(RAD51C):c.724G>A (p.Asp242Asn) rs876659188
NM_058216.3(RAD51C):c.760G>T (p.Asp254Tyr) rs1567799662
NM_058216.3(RAD51C):c.797C>T (p.Ala266Val) rs1555599239
NM_058216.3(RAD51C):c.837+2T>C rs1567799943
NM_058216.3(RAD51C):c.853C>T (p.Gln285Ter) rs1598504016
NM_058216.3(RAD51C):c.86C>T (p.Ser29Phe) rs876659683
NM_058216.3(RAD51C):c.890_899del (p.Leu297fs) rs1555602141
NM_058216.3(RAD51C):c.904G>A (p.Gly302Arg) rs1555602158
NM_058216.3(RAD51C):c.912T>G (p.Ser304Arg) rs876659009
NM_058216.3(RAD51C):c.919C>T (p.His307Tyr) rs2049021432
NM_058246.4(DNAJB6):c.271T>A (p.Phe91Ile) rs869320701
NM_058246.4(DNAJB6):c.688A>G (p.Asn230Asp) rs1584927997
NM_078480.3(PUF60):c.208-1G>A rs1229324113
NM_078480.3(PUF60):c.219del (p.Lys72_Tyr73insTer) rs1586590135
NM_078480.3(PUF60):c.271C>T (p.Gln91Ter) rs1464053660
NM_078480.3(PUF60):c.382_383del (p.Met128fs) rs2130258214
NM_078629.4(MSL3):c.469GAA[1] (p.Glu158del) rs2147244252
NM_080425.4(GNAS):c.2069-6389CGGCG[3] rs143800311
NM_080425.4(GNAS):c.803C>G (p.Pro268Arg) rs2145566990
NM_080669.6(SLC46A1):c.981_982del (p.Tyr327_Cys328delinsTer) rs1597834560
NM_080680.3(COL11A2):c.1292del (p.Pro431fs) rs1583351636
NM_080680.3(COL11A2):c.4288G>T (p.Asp1430Tyr) rs985479138
NM_080680.3(COL11A2):c.67dup (p.Ala23fs) rs1583394539
NM_080916.3(DGUOK):c.287T>C (p.Leu96Pro) rs587780587
NM_080916.3(DGUOK):c.707+2T>G rs1573582059
NM_130466.4(UBE3B):c.2923-1G>T rs1409120511
NM_130797.4(DPP6):c.2304+2T>C rs931703283
NM_130797.4(DPP6):c.421T>C (p.Phe141Leu) rs571883604
NM_130811.4(SNAP25):c.170T>C (p.Leu57Pro) rs2123120184
NM_130811.4(SNAP25):c.553G>C (p.Ala185Pro) rs1600807788
NM_130837.3(OPA1):c.1051G>C (p.Asp351His) rs1577228080
NM_130837.3(OPA1):c.1288T>G (p.Cys430Gly) rs1313421147
NM_130837.3(OPA1):c.1454A>T (p.Asn485Ile) rs1577243012
NM_130837.3(OPA1):c.1511C>G (p.Thr504Arg) rs1577244261
NM_130837.3(OPA1):c.1511del (p.Thr504fs) rs794729196
NM_130837.3(OPA1):c.2315_2316del (p.Phe772fs) rs1577297114
NM_130837.3(OPA1):c.2983+6T>A rs1577335678
NM_130837.3(OPA1):c.52G>C (p.Val18Leu) rs2108864324
NM_130839.5(UBE3A):c.1066C>T (p.Arg356Ter) rs2080238010
NM_130839.5(UBE3A):c.1405_1408del (p.Glu469fs) rs587784512
NM_130839.5(UBE3A):c.1577G>A (p.Arg526His) rs1064795012
NM_130839.5(UBE3A):c.1976T>G (p.Leu659Ter) rs1595591164
NM_130839.5(UBE3A):c.2198G>T (p.Gly733Val) rs1595572384
NM_130839.5(UBE3A):c.2498+1G>A rs2152514807
NM_130839.5(UBE3A):c.2517_2553dup (p.Lys852delinsLeuLeuTer) rs1595362860
NM_130839.5(UBE3A):c.67C>T (p.Arg23Ter) rs1490279918
NM_130839.5(UBE3A):c.826C>T (p.Arg276Ter) rs997044541
NM_133181.4(EPS8L3):c.409G>C (p.Glu137Gln) rs1157241634
NM_133259.4(LRPPRC):c.7G>A (p.Ala3Thr) rs200686732
NM_133379.5(TTN):c.13915G>T (p.Glu4639Ter) rs1430676547
NM_133433.4(NIPBL):c.226del (p.His76fs) rs1580323151
NM_133433.4(NIPBL):c.3316C>T (p.Arg1106Ter) rs2149668942
NM_133433.4(NIPBL):c.5329-15A>G rs587783968
NM_133433.4(NIPBL):c.6275T>G (p.Leu2092Arg) rs1579557913
NM_133433.4(NIPBL):c.6763+5G>A rs2149737162
NM_133433.4(NIPBL):c.7307C>T (p.Ala2436Val) rs2149750114
NM_134261.3(RORA):c.386G>A (p.Arg129Gln) rs1595889010
NM_134261.3(RORA):c.994C>A (p.Gln332Lys) rs2141276736
NM_138425.4(C12orf57):c.182del (p.Ile61fs) rs1591674823
NM_138459.5(NUS1):c.541+10A>C rs1051471000
NM_138459.5(NUS1):c.692-1G>A rs1582477100
NM_138572.3(TAF8):c.719_720del (p.Thr240fs) rs2127459499
NM_138572.3(TAF8):c.806_809del (p.Asn269fs) rs2127464524
NM_138576.4(BCL11B):c.2448_2461dup (p.Glu821fs) rs2139753037
NM_138615.3(DHX30):c.1390A>G (p.Thr464Ala) rs1576517675
NM_138615.3(DHX30):c.2344C>T (p.Arg782Trp) rs753242774
NM_138615.3(DHX30):c.2387C>G (p.Pro796Arg) rs2037707020
NM_138691.3(TMC1):c.2163G>C (p.Lys721Asn) rs1588105861
NM_138694.4(PKHD1):c.1180G>A (p.Ala394Thr) rs1582024305
NM_138694.4(PKHD1):c.1242_1250del (p.Ala415_Ile417del) rs1554217913
NM_138694.4(PKHD1):c.1693+2T>G rs1581999471
NM_138694.4(PKHD1):c.2524A>C (p.Thr842Pro) rs1203260419
NM_138694.4(PKHD1):c.2946del (p.Cys983fs) rs1581910835
NM_138694.4(PKHD1):c.4882C>G (p.Pro1628Ala) rs267601070
NM_138694.4(PKHD1):c.7029C>A (p.Tyr2343Ter) rs202223718
NM_138694.4(PKHD1):c.8441-5A>G rs922193595
NM_138694.4(PKHD1):c.9719G>A (p.Arg3240Gln) rs146649803
NM_138711.6(PPARG):c.1181-2A>T rs2125323710
NM_138711.6(PPARG):c.1184G>A (p.Arg395His) rs2051760352
NM_138715.3(MSR1):c.877C>T (p.Arg293Ter) rs41341748
NM_138927.4(SON):c.2919dup (p.Pro974fs) rs1601263223
NM_138927.4(SON):c.384del (p.Lys128fs) rs778418096
NM_138927.4(SON):c.4151_4174del (p.Leu1384_Val1391del) rs769691894
NM_139027.6(ADAMTS13):c.2863dup (p.Trp955fs) rs1588198044
NM_139058.3(ARX):c.1105G>A (p.Glu369Lys) rs104894746
NM_139058.3(ARX):c.1369_1391del (p.Gly457fs) rs1601946502
NM_139058.3(ARX):c.1414_1428del (p.Arg472_Phe476del) rs1601946492
NM_139058.3(ARX):c.1449-8_1453del rs2147318823
NM_139058.3(ARX):c.1593_1620del (p.Ser531fs) rs1601945599
NM_139058.3(ARX):c.1612A>G (p.Lys538Glu) rs1064794843
NM_139058.3(ARX):c.2T>G (p.Met1Arg) rs2147325502
NM_139058.3(ARX):c.306GGC[11] (p.Ala115dup) rs387906492
NM_139058.3(ARX):c.578G>C (p.Gly193Ala) rs2147324028
NM_139276.3(STAT3):c.1859C>T (p.Thr620Ile) rs1567708034
NM_139276.3(STAT3):c.2132T>G (p.Ile711Ser) rs1598381121
NM_144573.4(NEXN):c.1252-1G>A rs1650708891
NM_144573.4(NEXN):c.1399dup (p.Ile467fs) rs1365488625
NM_144573.4(NEXN):c.1946GAG[1] (p.Gly650del) rs397517853
NM_144599.5(NIPA1):c.24GGC[7] (p.Ala16del) rs531550505
NM_144670.6(A2ML1):c.2360T>C (p.Phe787Ser) rs2136879278
NM_144672.4(OTOA):c.1320+2T>C rs1567381218
NM_144687.4(NLRP12):c.2072+2_2072+3insTT rs104895565
NM_144773.4(PROKR2):c.114TGAGGA[3] (p.39ED[3]) rs746909168
NM_144773.4(PROKR2):c.253C>T (p.Arg85Cys) rs141090506
NM_144991.3(TSPEAR):c.1039C>T (p.Arg347Cys) rs143814541
NM_144997.7(FLCN):c.424TTC[1] (p.Phe143del) rs764153620
NM_144997.7(FLCN):c.49dup (p.Arg17fs) rs758385503
NM_144997.7(FLCN):c.779+6G>A rs778530618
NM_145068.4(TRPV3):c.1703G>T (p.Gly568Val) rs1057517884
NM_145166.4(ZBTB47):c.407C>T (p.Pro136Leu) rs1710670079
NM_145239.3(PRRT2):c.1021T>C (p.Ter341Arg) rs1403034524
NM_145239.3(PRRT2):c.629del (p.Pro210fs) rs730882067
NM_145239.3(PRRT2):c.629dup (p.Ala211fs) rs730882067
NM_145239.3(PRRT2):c.647C>G (p.Pro216Arg) rs76335820
NM_145239.3(PRRT2):c.649del (p.Arg217fs) rs587778771
NM_145239.3(PRRT2):c.649dup (p.Arg217fs)
NM_145239.3(PRRT2):c.718C>T (p.Arg240Ter) rs387907126
NM_145239.3(PRRT2):c.748C>T (p.Gln250Ter) rs397514579
NM_145239.3(PRRT2):c.922C>T (p.Arg308Cys) rs932713001
NM_145239.3(PRRT2):c.971del (p.Gly324fs) rs796052941
NM_145239.3(PRRT2):c.971dup (p.Val325fs) rs796052941
NM_145331.3(MAP3K7):c.145GTT[1] (p.Val50del) rs886039236
NM_145861.4(EDARADD):c.161-2A>G rs1553267282
NM_145868.2(ANXA11):c.118G>T (p.Asp40Tyr) rs368751524
NM_152263.4(TPM3):c.43G>A (p.Asp15Asn) rs1553251644
NM_152263.4(TPM3):c.7G>C (p.Glu3Gln) rs1571456678
NM_152296.5(ATP1A3):c.1036T>C (p.Cys346Arg) rs1599719534
NM_152296.5(ATP1A3):c.108G>A (p.Met36Ile) rs1599725994
NM_152296.5(ATP1A3):c.1549G>C (p.Glu517Gln) rs782583311
NM_152296.5(ATP1A3):c.1806+3G>A rs2145964767
NM_152296.5(ATP1A3):c.1838C>T (p.Thr613Met)
NM_152296.5(ATP1A3):c.2195C>A (p.Ser732Tyr) rs1599712523
NM_152296.5(ATP1A3):c.2225A>T (p.Asp742Val) rs2145959393
NM_152296.5(ATP1A3):c.2252G>A (p.Gly751Glu) rs1599712456
NM_152296.5(ATP1A3):c.2767G>C (p.Asp923His) rs267606670
NM_152296.5(ATP1A3):c.2953A>G (p.Ser985Gly) rs1599702734
NM_152296.5(ATP1A3):c.910G>A (p.Gly304Arg) rs1032312899
NM_152296.5(ATP1A3):c.973G>C (p.Gly325Arg) rs2145977694
NM_152336.4(AGBL1):c.3323+1G>A rs79072327
NM_152419.3(HGSNAT):c.710C>A (p.Pro237Gln) rs727503962
NM_152424.4(AMER1):c.1384del (p.Glu462fs) rs1602067633
NM_152443.3(RDH12):c.125T>C (p.Val42Ala) rs1594865036
NM_152443.3(RDH12):c.178G>C (p.Ala60Pro) rs749038454
NM_152443.3(RDH12):c.325G>C (p.Ala109Pro) rs1594865434
NM_152443.3(RDH12):c.658+1G>A rs387906272
NM_152490.5(B3GALNT2):c.113-1376C>T rs1572560402
NM_152490.5(B3GALNT2):c.113-1439dup rs1572560624
NM_152564.5(VPS13B):c.11429_11432dup (p.Arg3812fs) rs1588810695
NM_152564.5(VPS13B):c.11750_11752dup (p.Asp3917dup) rs386834068
NM_152564.5(VPS13B):c.2047del (p.Gln683fs) rs386834074
NM_152564.5(VPS13B):c.9331-1G>T rs386834119
NM_152564.5(VPS13B):c.9331-2_9331-1del rs764288792
NM_152564.5(VPS13B):c.9337_9338del (p.Arg3113fs) rs754443525
NM_152564.5(VPS13B):c.9797A>G (p.His3266Arg) rs2130866481
NM_152594.3(SPRED1):c.1149_1152del (p.Gly385fs) rs1595763925
NM_152594.3(SPRED1):c.52C>T (p.Arg18Ter) rs750777752
NM_152641.4(ARID2):c.2254C>A (p.Gln752Lys) rs376582344
NM_152641.4(ARID2):c.5008G>A (p.Glu1670Lys) rs201419229
NM_152641.4(ARID2):c.5346T>G (p.Tyr1782Ter) rs1592145571
NM_152703.5(SAMD9L):c.2956C>T (p.Arg986Cys) rs1554341158
NM_152743.4(BRAT1):c.1857G>A (p.Trp619Ter) rs794729222
NM_152906.7(TANGO2):c.95G>A (p.Arg32Gln) rs896249235
NM_153006.3(NAGS):c.1313del (p.Gly438fs) rs1597866458
NM_153006.3(NAGS):c.424G>T (p.Glu142Ter) rs1282296585
NM_153240.5(NPHP3):c.394-89AT[7] rs10590809
NM_153252.5(BRWD3):c.1690C>T (p.Leu564Phe) rs1602352162
NM_153252.5(BRWD3):c.3865-119TA[9] rs3029738
NM_153460.4(IL17RC):c.622+115ATTC[5] rs34198416
NM_153704.6(TMEM67):c.2201_2208dup (p.Ala737fs) rs1586074742
NM_153704.6(TMEM67):c.2485C>G (p.Gln829Glu) rs1586090222
NM_153816.6(SNX14):c.1075G>T (p.Ala359Ser) rs146849758
NM_153816.6(SNX14):c.1608+1G>T rs749656742
NM_170606.3(KMT2C):c.162-1G>T rs1177551329
NM_170606.3(KMT2C):c.2532+1del rs2129163740
NM_170606.3(KMT2C):c.4507+5A>G rs2129129571
NM_170606.3(KMT2C):c.4602G>T (p.Gln1534His) rs992987667
NM_170606.3(KMT2C):c.8216A>C (p.Glu2739Ala) rs2129114460
NM_170606.3(KMT2C):c.8431T>C (p.Ser2811Pro) rs896573950
NM_170675.5(MEIS2):c.934_937del (p.Leu312fs) rs1595790647
NM_170707.4(LMNA):c.1391T>A (p.Met464Lys) rs1281896947
NM_170707.4(LMNA):c.1583C>A (p.Thr528Lys) rs57629361
NM_170707.4(LMNA):c.1744C>T (p.Arg582Cys) rs918645468
NM_170707.4(LMNA):c.1969-2A>T rs1572370360
NM_170707.4(LMNA):c.936+2T>C rs797045011
NM_172002.5(HSCB):c.-37C>T rs1269754581
NM_172107.4(KCNQ2):c.1050C>A (p.Asn350Lys) rs1371059392
NM_172107.4(KCNQ2):c.1118+1G>A rs397507449
NM_172107.4(KCNQ2):c.1149-1G>T rs1600714727
NM_172107.4(KCNQ2):c.1632-1G>T rs118192233
NM_172107.4(KCNQ2):c.1657C>T (p.Arg553Trp) rs759584387
NM_172107.4(KCNQ2):c.1956dup (p.Thr653fs) rs1601545088
NM_172107.4(KCNQ2):c.1997C>T (p.Pro666Leu) rs762130930
NM_172107.4(KCNQ2):c.3G>A (p.Met1Ile) rs866273848
NM_172107.4(KCNQ2):c.601C>T (p.Arg201Cys) rs796052623
NM_172107.4(KCNQ2):c.613A>G (p.Ile205Val) rs1057516087
NM_172107.4(KCNQ2):c.617T>C (p.Leu206Pro) rs1339542565
NM_172107.4(KCNQ2):c.637C>T (p.Arg213Trp) rs118192203
NM_172107.4(KCNQ2):c.638G>T (p.Arg213Leu) rs397514581
NM_172107.4(KCNQ2):c.649A>C (p.Thr217Pro) rs1057516089
NM_172107.4(KCNQ2):c.696_698dup (p.Val233dup) rs1600767259
NM_172107.4(KCNQ2):c.698_699insACC (p.Val233_Thr234insPro) rs794729197
NM_172107.4(KCNQ2):c.700A>G (p.Thr234Ala) rs1057516091
NM_172107.4(KCNQ2):c.716G>T (p.Gly239Val) rs796052630
NM_172107.4(KCNQ2):c.761A>C (p.Glu254Ala) rs794727739
NM_172107.4(KCNQ2):c.910TTC[1] (p.Phe305del) rs118192212
NM_172245.4(CSF2RA):c.920_921dup (p.Ser308fs) rs1196937077
NM_172250.3(MMAA):c.397C>T (p.Gln133Ter) rs754545360
NM_172349.5(NSD1):c.-151+112_-151+113del rs1581082075
NM_173630.4(RTTN):c.725_727dup (p.Gly242dup) rs58913700
NM_173660.5(DOK7):c.1124_1127dup (p.Ala378fs) rs606231128
NM_173660.5(DOK7):c.1143del (p.Glu382fs) rs606231132
NM_173660.5(DOK7):c.1263dup (p.Ser422fs) rs606231129
NM_173660.5(DOK7):c.325G>A (p.Gly109Ser) rs762952740
NM_173660.5(DOK7):c.957dup (p.Lys320fs) rs794727884
NM_174878.3(CLRN1):c.128G>T (p.Gly43Val) rs933370216
NM_174905.4(FAM98C):c.691CTC[2] (p.Leu233del) rs137896913
NM_174936.4(PCSK9):c.1484G>A (p.Arg495Gln) rs370574590
NM_174936.4(PCSK9):c.1958C>T (p.Thr653Met)
NM_174936.4(PCSK9):c.2072T>G (p.Leu691Arg) rs748956735
NM_174936.4(PCSK9):c.45GCT[10] (p.Leu21_Leu23dup) rs35574083
NM_174936.4(PCSK9):c.580C>T (p.Arg194Trp) rs200027662
NM_174936.4(PCSK9):c.593G>A (p.Gly198Asp) rs1053394659
NM_174936.4(PCSK9):c.94G>A (p.Glu32Lys)
NM_175914.5(HNF4A):c.48C>G (p.Tyr16Ter) rs2146127862
NM_175914.5(HNF4A):c.944TGC[4] (p.Leu319del) rs776489992
NM_175914.5(HNF4A):c.950T>G (p.Leu317Arg) rs2146468685
NM_176787.5(PIGN):c.1517G>A (p.Trp506Ter) rs2146506059
NM_176787.5(PIGN):c.160C>T (p.Leu54Phe) rs1599663316
NM_176787.5(PIGN):c.1694G>T (p.Arg565Leu) rs201835155
NM_176787.5(PIGN):c.283C>T (p.Arg95Trp) rs558341655
NM_176787.5(PIGN):c.491_492del (p.Glu164fs) rs748817187
NM_177400.3(NKX6-2):c.599G>A (p.Arg200Gln) rs1008088032
NM_177438.3(DICER1):c.*30C>A rs749282967
NM_177438.3(DICER1):c.*35C>A rs756294748
NM_177438.3(DICER1):c.3848T>C (p.Ile1283Thr) rs754352488
NM_177550.5(SLC13A5):c.103-1G>A rs1597677742
NM_177550.5(SLC13A5):c.1276-1G>A rs1597657030
NM_177550.5(SLC13A5):c.272T>C (p.Leu91Pro) rs1555543400
NM_177559.3(CSNK2A1):c.140G>A (p.Arg47Gln) rs869312845
NM_177559.3(CSNK2A1):c.239G>A (p.Arg80His) rs1057518092
NM_177559.3(CSNK2A1):c.530G>A (p.Gly177Asp) rs2122521881
NM_177924.5(ASAH1):c.216+46TATTT[3] rs35875004
NM_177965.4(CFAP418):c.94G>A (p.Gly32Ser) rs779716988
NM_177987.3(TUBB8):c.1045G>A (p.Val349Ile) rs572455524
NM_177987.3(TUBB8):c.938C>T (p.Ala313Val) rs199826048
NM_178011.5(LRRTM3):c.311C>T (p.Ala104Val) rs1589435465
NM_178012.5(TUBB2B):c.1138C>T (p.Arg380Cys) rs1757271243
NM_178014.4(TUBB):c.266A>C (p.Asn89Thr) rs1179402804
NM_178014.4(TUBB):c.45G>C (p.Gln15His) rs1776147010
NM_178172.6(GPIHBP1):c.182-1G>T rs2130672651
NM_178857.6(RP1L1):c.1231C>T (p.Pro411Ser) rs754785148
NM_178857.6(RP1L1):c.3956_3957insAAGAAGAGAG (p.Val1320fs) rs773894295
NM_178857.6(RP1L1):c.3970_3971insGGACTAAAGTAATAGAAGGGCTGCAAGAAGAGAGGGTGCAGTTAGAGG (p.Glu1323_Glu1324insGlyThrLysValIleGluGlyLeuGlnGluGluArgValGlnLeuGlu) rs369606728
NM_178857.6(RP1L1):c.3971A>G (p.Glu1324Gly) rs4240659
NM_178857.6(RP1L1):c.4018_4019insGGACTAAAACAGAAGAAGGGCTGCAAGAAGAGGGGGTGCAGTTAGAGG (p.Glu1339_Glu1340insGlyThrLysThrGluGluGlyLeuGlnGluGluGlyValGlnLeuGlu) rs1585963477
NM_178857.6(RP1L1):c.4018_4019insGGACTAAAGTAATAGAAGGGCTGCAAGAAGAGAGGGTGCAGTTAGAGG (p.Glu1339_Glu1340insGlyThrLysValIleGluGlyLeuGlnGluGluArgValGlnLeuGlu) rs1585963467
NM_178857.6(RP1L1):c.4018_4019insGGACTAAAGTAATAGAAGGGCTGCAAGAAGAGGGGGTGCAGTTAGAGG (p.Glu1339_Glu1340insGlyThrLysValIleGluGlyLeuGlnGluGluGlyValGlnLeuGlu) rs1585963475
NM_178863.5(KCTD13):c.790del (p.Thr263_Leu264insTer) rs1245379191
NM_181332.3(NLGN4X):c.205C>T (p.Pro69Ser) rs915922545
NM_181458.4(PAX3):c.239A>G (p.His80Arg) rs1574771535
NM_181458.4(PAX3):c.792+2T>C rs2106094950
NM_181458.4(PAX3):c.879dup (p.Phe294fs) rs1553572967
NM_181486.4(TBX5):c.538del (p.Gln180fs) rs1593876058
NM_181486.4(TBX5):c.593dup (p.Asn198fs)
NM_181523.3(PIK3R1):c.1425+1G>A rs587777709
NM_181523.3(PIK3R1):c.916+1G>A rs2112197421
NM_181672.3(OGT):c.531+6T>C rs2147672814
NM_181882.3(PRX):c.1552_1558del (p.Pro518fs) rs2079443119
NM_181882.3(PRX):c.3198del (p.Phe1066fs) rs1599651549
NM_181882.3(PRX):c.3379A>T (p.Lys1127Ter) rs964195568
NM_181882.3(PRX):c.3587del (p.Gly1196fs) rs1317590341
NM_181882.3(PRX):c.4059GGA[6] (p.Glu1361del) rs139624657
NM_181882.3(PRX):c.4172G>A (p.Arg1391Gln) rs917161355
NM_182641.4(BPTF):c.255dup (p.Ser86fs) rs1598050118
NM_182641.4(BPTF):c.2598dup (p.Glu867fs) rs753044214
NM_182641.4(BPTF):c.581T>G (p.Phe194Cys) rs1292339242
NM_182649.2(PCNA):c.443G>C (p.Cys148Ser) rs1274412848
NM_182895.5(SCARF2):c.915C>G (p.Cys305Trp) rs1241075295
NM_182914.3(SYNE2):c.1186G>T (p.Glu396Ter) rs1405666656
NM_182914.3(SYNE2):c.4768G>T (p.Val1590Phe) rs1018808319
NM_182931.3(KMT2E):c.1776_1780del (p.Lys593fs) rs1562927768
NM_182931.3(KMT2E):c.3005G>C (p.Ser1002Thr) rs780786453
NM_182931.3(KMT2E):c.3070C>T (p.Gln1024Ter) rs1562931936
NM_182931.3(KMT2E):c.3339A>C (p.Arg1113Ser) rs938243662
NM_182943.3(PLOD2):c.1406G>A (p.Gly469Glu) rs964199801
NM_182961.4(SYNE1):c.4534C>T (p.Gln1512Ter) rs988770583
NM_182978.4(GNAL):c.764C>T (p.Thr255Ile) rs1598436429
NM_183050.4(BCKDHB):c.1006G>A (p.Gly336Ser) rs398124560
NM_183050.4(BCKDHB):c.1039-2A>G rs2128020522
NM_183050.4(BCKDHB):c.478A>T (p.Ile160Phe) rs1582275277
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_183075.3(CYP2U1):c.1210_1211del (p.Glu404fs) rs767024102
NM_183357.3(ADCY5):c.-1dup (p.Met1fs) rs905351643
NM_183357.3(ADCY5):c.1579C>A (p.Pro527Thr) rs910314734
NM_183357.3(ADCY5):c.175G>A (p.Gly59Arg) rs1184128181
NM_183357.3(ADCY5):c.2072A>T (p.Lys691Met) rs1941427629
NM_183357.3(ADCY5):c.2088+1G>T rs797045002
NM_183357.3(ADCY5):c.2278C>T (p.Arg760Ter) rs1553724606
NM_183357.3(ADCY5):c.2498A>G (p.Asn833Ser) rs2108270287
NM_183357.3(ADCY5):c.3074A>C (p.Glu1025Ala) rs1576526285
NM_183357.3(ADCY5):c.3074A>G (p.Glu1025Gly) rs1576526285
NM_183357.3(ADCY5):c.3180T>G (p.Asp1060Glu) rs2108194433
NM_183357.3(ADCY5):c.3224C>T (p.Ala1075Val) rs2108194025
NM_183357.3(ADCY5):c.459_460del (p.Arg154fs) rs1576704514
NM_194248.3(OTOF):c.1236del (p.Glu413fs) rs397515581
NM_194277.3(FRMD7):c.849G>C (p.Glu283Asp) rs899378158
NM_198239.2(CCN6):c.149G>A (p.Trp50Ter) rs927750682
NM_198253.3(TERT):c.1317GGA[2] (p.Glu441del) rs377639087
NM_198253.3(TERT):c.1610G>A (p.Arg537His) rs1272053273
NM_198253.3(TERT):c.652G>A (p.Ala218Thr) rs1554043028
NM_198253.3(TERT):c.959C>T (p.Pro320Leu) rs1751178484
NM_198282.4(STING1):c.277del (p.Leu93fs) rs1372183093
NM_198334.3(GANAB):c.1593+3_1593+15del rs2134476660
NM_198407.2(GHSR):c.545T>C (p.Val182Ala) rs1043529281
NM_198428.3(BBS9):c.310del (p.Cys104fs) rs747388658
NM_198428.3(BBS9):c.702+1G>A rs2128325966
NM_198503.5(KCNT2):c.2953G>A (p.Asp985Asn) rs2147780395
NM_198503.5(KCNT2):c.725C>A (p.Thr242Asn) rs1572418357
NM_198503.5(KCNT2):c.914G>C (p.Cys305Ser) rs2148537524
NM_198576.4(AGRN):c.2457G>C (p.Gly819=) rs112039851
NM_198576.4(AGRN):c.4745-47_4753del rs1570242061
NM_198578.4(LRRK2):c.4883G>A (p.Arg1628His) rs33949390
NM_198578.4(LRRK2):c.4883G>C (p.Arg1628Pro) rs33949390
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.1147_1150del (p.Leu383fs) rs1376687924
NM_198880.3(QRICH1):c.1306C>G (p.Gln436Glu) rs1575347805
NM_198880.3(QRICH1):c.646G>A (p.Val216Met) rs76308243
NM_198880.3(QRICH1):c.64dup (p.Val22fs) rs1575373920
NM_198904.4(GABRG2):c.1A>G (p.Met1Val) rs1581275976
NM_198904.4(GABRG2):c.929C>G (p.Thr310Ser) rs2113632484
NM_198947.4(FAM111B):c.1461del (p.Cys488fs) rs2135405104
NM_198994.3(TGM6):c.1967+59AG[2] rs60388755
NM_199242.3(UNC13D):c.118-307G>A rs1019391145
NM_199242.3(UNC13D):c.2710-2A>G rs910650073
NM_199334.5(THRA):c.425G>T (p.Arg142Leu) rs1598396222
NM_201253.3(CRB1):c.1313G>A (p.Cys438Tyr) rs1571522690
NM_201253.3(CRB1):c.1455_1458dup (p.Ser487fs) rs1571523319
NM_201253.3(CRB1):c.1633T>C (p.Ser545Pro) rs1571524102
NM_201253.3(CRB1):c.1843G>A (p.Gly615Ser) rs1571525145
NM_201253.3(CRB1):c.2533_2539del (p.Gly845fs) rs745348555
NM_201253.3(CRB1):c.275_276insT (p.Arg92fs) rs1571848132
NM_201253.3(CRB1):c.281_282del (p.Phe94fs) rs1571848166
NM_201253.3(CRB1):c.2842T>C (p.Cys948Arg) rs62645747
NM_201253.3(CRB1):c.287G>A (p.Cys96Tyr) rs1571848190
NM_201253.3(CRB1):c.289_294del (p.Lys97_Cys98del) rs1571848216
NM_201253.3(CRB1):c.3299T>C (p.Ile1100Thr) rs62635659
NM_201253.3(CRB1):c.3462_3463del (p.Cys1154_Glu1155delinsTer) rs1571557864
NM_201253.3(CRB1):c.3653G>A (p.Cys1218Tyr) rs1450635782
NM_201253.3(CRB1):c.3961T>G (p.Cys1321Gly) rs62635649
NM_201253.3(CRB1):c.4142C>T (p.Pro1381Leu) rs1667264651
NM_201253.3(CRB1):c.488G>T (p.Cys163Phe) rs1571848855
NM_201253.3(CRB1):c.498_506del (p.Ile167_Gly169del) rs398124615
NM_201253.3(CRB1):c.613_619del (p.Ile205fs) rs62645752
NM_201253.3(CRB1):c.652+1G>A rs2125304900
NM_201253.3(CRB1):c.984G>A (p.Trp328Ter) rs1571878277
NM_201631.4(TGM5):c.10+2T>C rs2142390360
NM_203447.4(DOCK8):c.1680-2428G>T rs1586810354
NM_203447.4(DOCK8):c.2007+2T>G rs2131215770
NM_203486.3(DLL3):c.599_603dup (p.Pro202fs) rs786200899
NM_205768.3(ZBTB18):c.1210G>A (p.Glu404Lys) rs2148557375
NM_205768.3(ZBTB18):c.1406A>G (p.His469Arg) rs2148557675
NM_205768.3(ZBTB18):c.967_968insG (p.Leu323fs) rs1572531281
NM_205861.3(DHDDS):c.438C>G (p.Asn146Lys) rs2124426386
NM_205861.3(DHDDS):c.632G>A (p.Arg211Gln) rs1553122926
NM_206862.4(TACC2):c.3317C>G (p.Ser1106Trp) rs753194129
NM_206933.2(USH2A):c.[12100G>A];[3367T>C]
NM_206933.4(USH2A):c.10246T>G (p.Cys3416Gly) rs527236140
NM_206933.4(USH2A):c.10385C>T (p.Thr3462Ile) rs1416602859
NM_206933.4(USH2A):c.11095G>T (p.Glu3699Ter) rs755804518
NM_206933.4(USH2A):c.11389+1G>A rs368770647
NM_206933.4(USH2A):c.12712T>C (p.Tyr4238His) rs1571949388
NM_206933.4(USH2A):c.1312_1327dup (p.Asn443fs) rs1415157305
NM_206933.4(USH2A):c.15380C>T (p.Pro5127Leu) rs201513512
NM_206933.4(USH2A):c.1829A>C (p.His610Pro) rs1571668556
NM_206933.4(USH2A):c.1985G>C (p.Cys662Ser) rs1487450999
NM_206933.4(USH2A):c.2534del (p.Leu845fs) rs1572088481
NM_206933.4(USH2A):c.2809+1G>A rs759433119
NM_206933.4(USH2A):c.2810G>T (p.Gly937Val) rs1572074313
NM_206933.4(USH2A):c.401_402delinsA (p.Ser134fs)
NM_206933.4(USH2A):c.434T>A (p.Met145Lys) rs2102788303
NM_206933.4(USH2A):c.4603dup (p.His1535fs) rs1572020896
NM_206933.4(USH2A):c.5737G>T (p.Glu1913Ter) rs762837293
NM_206933.4(USH2A):c.7932G>A (p.Trp2644Ter) rs1571783742
NM_206933.4(USH2A):c.851A>G (p.Glu284Gly) rs762869685
NM_206933.4(USH2A):c.9827C>A (p.Ser3276Ter) rs863224941
NM_206933.4(USH2A):c.999_1000dup (p.Arg334fs) rs1571703770
NM_206965.2(FTCD):c.990dup (p.Pro331fs) rs398124234
NM_207034.3(EDN3):c.565dup (p.Thr189fs) rs11570344
NM_207111.4(RNF216):c.2686G>T (p.Val896Phe) rs141327139
NM_207346.3(TSEN54):c.221+3G>T rs2147005856
NM_207346.3(TSEN54):c.249G>A (p.Arg83=) rs2147006296
NM_207352.4(CYP4V2):c.1169G>T (p.Arg390Leu) rs199476201
NM_207352.4(CYP4V2):c.518T>G (p.Leu173Trp) rs199476190
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.1013+1G>A rs1335126943
NM_213599.3(ANO5):c.1494T>G (p.Asp498Glu) rs2133738349
NM_213599.3(ANO5):c.1721A>G (p.Tyr574Cys) rs2133747827
NM_213599.3(ANO5):c.191dup (p.Asn64fs) rs137854521
NM_213599.3(ANO5):c.2646C>G (p.Asn882Lys) rs34969327
NM_213720.3(CHCHD10):c.312C>T (p.Tyr104=) rs9153
UGT1A1*28 rs3064744
m.10197G>A rs267606891
m.10438A>G rs121434456
m.10450A>G rs387906731
m.10663T>C rs1556423844
m.12147G>A rs121434474
m.12207G>A rs118203889
m.12706T>C rs267606893
m.1442G>A rs28358573
m.14459G>A rs199476105
m.14487T>C rs199476109
m.14568C>T rs397515506
m.14674T>C rs387906421
m.15150G>A rs207460000
m.15572T>C rs207459996
m.15579A>G rs207460002
m.1624C>T rs199476144
m.3242G>A rs193303018
m.3251A>G rs199474662
m.3271T>C rs199474658
m.3303C>T rs199474660
m.3635G>A rs397515507
m.3697G>A rs199476122
m.3733G>A rs199476125
m.3946G>A rs199476123
m.4160T>C rs199476119
m.4171C>A rs28616230
m.4269A>G rs121434466
m.4284G>A rs121434468
m.4300A>G rs121434470
m.5521G>A rs199474673
m.5532G>A rs199474674
m.5591G>A rs121434458
m.5650G>A rs121434457
m.5703G>A rs199476130
m.5728T>C rs199476132
m.608A>G rs387906735
m.616T>C rs387906420
m.622G>A rs118203887
m.6742T>C rs199476126
m.7445A>C rs199474818
m.7497G>A rs387906419
m.7511T>C rs199474821
m.7512T>C rs199474817
m.8009G>A rs199474826
m.8342G>A rs118192103
m.8344A>G rs118192098
m.8356T>C rs118192099
m.8363G>A rs118192100
m.9997T>C rs121434475

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