ClinVar Miner

List of variants reported for not specified by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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ClinVar version:
Total variants: 2830
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HGVS dbSNP gnomAD frequency
NM_025099.6(CTC1):c.435+3= rs6503093 0.99999
NM_001363.5(DKC1):c.369G>T (p.Thr123=) rs2728532 0.99384
NM_000022.4(ADA):c.36G>A (p.Val12=) rs394105 0.98470
NM_001113378.2(FANCI):c.2547= (p.Lys849=) rs7183618 0.95848
NM_025099.6(CTC1):c.2458A>G (p.Ile820Val) rs3027238 0.94552
NM_001374353.1(GLI2):c.457+70G>A rs11681136 0.93205
NM_005529.7(HSPG2):c.1655-35G>A rs921847 0.92710
NM_001042492.3(NF1):c.7189+37C>G rs7405740 0.88082
NM_000517.4(HBA2):c.*136A>G rs2685121 0.86184
NM_000546.6(TP53):c.376-91G>A rs2909430 0.83528
NM_000546.6(TP53):c.672+62A>G rs1625895 0.83418
NM_000518.5(HBB):c.316-185C>T rs1609812 0.82712
NM_025099.6(CTC1):c.3013A>G (p.Ile1005Val) rs3826543 0.77529
NM_005529.7(HSPG2):c.11993-151A>G rs7518070 0.76960
NM_145861.4(EDARADD):c.61+123G>A rs966364 0.75130
NM_014874.4(MFN2):c.*58A>G rs1042842 0.71104
NM_018062.4(FANCL):c.981T>C (p.Ser327=) rs848291 0.69782
NM_001042492.3(NF1):c.5268+23T>C rs9894648 0.65316
NM_000088.4(COL1A1):c.1669-31T>C rs1007086 0.64557
NM_032444.4(SLX4):c.4500T>C (p.Asn1500=) rs3810812 0.63612
NM_002296.4(LBR):c.-14-54G>A rs1340867 0.62460
NM_001022.4(RPS19):c.-1+36= rs930102 0.57140
NM_000053.4(ATP7B):c.4021+50G>C rs9535795 0.56559
NM_001042492.3(NF1):c.288+41G>A rs2952976 0.56461
NM_000431.4(MVK):c.79-164T>G rs6606734 0.55050
NM_001018113.3(FANCB):c.1327-10T>C rs2905223 0.53797
NM_001042492.3(NF1):c.1641+39T>C rs2905880 0.52895
NM_001042492.3(NF1):c.1393-32T>C rs2905876 0.52881
NM_000135.4(FANCA):c.796A>G (p.Thr266Ala) rs7190823 0.52564
NM_000135.4(FANCA):c.1501G>A (p.Gly501Ser) rs2239359 0.51262
NM_001042492.3(NF1):c.7458-29G>A rs964288 0.49344
NM_002626.6(PFKL):c.366C>T (p.Leu122=) rs1057034 0.48477
NM_000135.4(FANCA):c.2426G>A (p.Gly809Asp) rs7195066 0.46389
NM_000243.3(MEFV):c.1610+96C>T rs224204 0.46165
NM_000243.3(MEFV):c.1588-69G>A rs224205 0.46073
NM_000251.3(MSH2):c.1759+183G>A rs3764960 0.42227
NM_000251.3(MSH2):c.1759+107A>G rs3764959 0.41882
NM_001113378.2(FANCI):c.3906T>C (p.Gly1302=) rs1138465 0.41848
NM_000243.3(MEFV):c.1764G>A (p.Pro588=) rs1231122 0.41230
NM_001042492.3(NF1):c.3496+33C>A rs2066736 0.40732
NM_000135.4(FANCA):c.2151+8T>C rs1800340 0.40536
NC_000013.11:g.52011857G>A rs9563084 0.40278
NM_000256.3(MYBPC3):c.3288G>A (p.Glu1096=) rs1052373 0.38767
NM_004629.2(FANCG):c.1636+7A>G rs587118 0.35683
NM_014251.3(SLC25A13):c.1194A>G (p.Leu398=) rs2301629 0.34968
NM_000138.5(FBN1):c.4942+570T>C rs10519177 0.34873
NM_001143992.2(WRAP53):c.202C>G (p.Arg68Gly) rs2287499 0.32078
NM_001113378.2(FANCI):c.257C>T (p.Ala86Val) rs17803620 0.31885
NM_001113378.2(FANCI):c.2225G>C (p.Cys742Ser) rs2283432 0.29667
NM_000179.3(MSH6):c.457+52T>A rs3136282 0.29585
NM_000059.4(BRCA2):c.6937+847T>G rs9567576 0.28751
NM_004006.3(DMD):c.6614+26G>T rs3761604 0.28231
NM_147127.5(EVC2):c.451-52G>A rs35705473 0.26495
NM_002626.6(PFKL):c.747+7G>A rs61750224 0.26251
NM_003126.4(SPTA1):c.5572C>G (p.Leu1858Val) rs3737515 0.25425
NM_001018115.3(FANCD2):c.4098T>G (p.Leu1366=) rs2272125 0.24889
NM_018062.4(FANCL):c.375-2014T>C rs12475594 0.22541
NM_032444.4(SLX4):c.753G>A (p.Ala251=) rs8061528 0.21914
NM_144997.7(FLCN):c.1433-38A>G rs34235236 0.21634
NM_032444.4(SLX4):c.3365C>T (p.Pro1122Leu) rs714181 0.20566
NM_020975.6(RET):c.2608-24G>A rs2472737 0.20380
NM_001018115.3(FANCD2):c.696-138C>T rs35220123 0.20233
NM_000368.5(TSC1):c.2392-35T>C rs11243931 0.20073
NM_001018115.3(FANCD2):c.1122A>G (p.Val374=) rs34046352 0.19892
NM_000548.5(TSC2):c.5260-49C>T rs13332221 0.19533
NM_000142.5(FGFR3):c.930+72C>G rs2305184 0.19439
NM_005359.6(SMAD4):c.*5131A>G rs12456284 0.19420
NM_020937.4(FANCM):c.2632G>T (p.Val878Leu) rs1367580 0.19378
NM_001018115.3(FANCD2):c.2141C>T (p.Pro714Leu) rs3864017 0.19295
NM_000053.4(ATP7B):c.1870-65G>A rs9535809 0.18440
NM_020937.4(FANCM):c.524C>T (p.Ser175Phe) rs10138997 0.16789
NM_025099.6(CTC1):c.990C>T (p.Asp330=) rs74506939 0.15238
NM_005529.7(HSPG2):c.11992+23G>A rs12023794 0.14776
NM_021922.3(FANCE):c.1504G>A (p.Ala502Thr) rs9462088 0.14730
NM_017780.4(CHD7):c.6103+8C>T rs3763592 0.14641
NM_153717.3(EVC):c.174+31G>C rs2276874 0.14512
NM_000088.4(COL1A1):c.104-441G>T rs1800012 0.13897
NM_001143992.2(WRAP53):c.450C>T (p.Phe150=) rs2287498 0.13667
NM_005529.7(HSPG2):c.11992+35A>G rs12042189 0.13391
NM_000179.3(MSH6):c.260+22C>G rs55927047 0.13136
NM_000431.4(MVK):c.78+61A>G rs61940512 0.13119
NM_000135.4(FANCA):c.3654A>G (p.Pro1218=) rs1800358 0.12784
NM_017780.4(CHD7):c.6276G>A (p.Glu2092=) rs2068096 0.12528
NM_000431.4(MVK):c.885+24G>A rs2270374 0.12332
NM_003001.5(SDHC):c.77+32A>T rs77828459 0.12254
NM_000071.3(CBS):c.829-60C>T rs12329764 0.12196
NM_000179.3(MSH6):c.628-56C>T rs1800936 0.11629
NM_007272.3(CTRC):c.356+71G>A rs3765373 0.11168
NM_000135.4(FANCA):c.3807G>C (p.Leu1269=) rs11649210 0.11105
NM_004168.4(SDHA):c.1170C>T (p.Phe390=) rs35277230 0.10356
NM_004168.4(SDHA):c.896-32G>A rs7725241 0.10356
NM_004168.4(SDHA):c.456+32G>A rs35464369 0.10345
NM_000071.3(CBS):c.829-88G>A rs55767206 0.10093
NM_000059.4(BRCA2):c.8755-272A>G rs4942485 0.09303
NM_004006.3(DMD):c.1704+51T>C rs5927082 0.09293
NM_001127511.3(APC):c.-31T>G rs78429131 0.09154
NM_020937.4(FANCM):c.5434C>G (p.Pro1812Ala) rs3736772 0.08766
NM_016038.4(SBDS):c.201A>G (p.Lys67=) rs1061695 0.08712
NM_002626.6(PFKL):c.710A>T (p.Asp237Val) rs1057037 0.08391
NM_020937.4(FANCM):c.4378A>G (p.Ile1460Val) rs78211950 0.08024
NM_032444.4(SLX4):c.2854G>A (p.Ala952Thr) rs59939128 0.07918
NM_000138.5(FBN1):c.5066-35C>T rs77105137 0.07470
NM_032444.4(SLX4):c.2012T>C (p.Leu671Ser) rs77985244 0.07388
NM_001113378.2(FANCI):c.2367G>T (p.Ala789=) rs11857960 0.07285
NM_001113378.2(FANCI):c.2629A>T (p.Ile877Leu) rs35875311 0.07245
NM_032444.4(SLX4):c.610C>T (p.Arg204Cys) rs79842542 0.07023
NM_004006.3(DMD):c.8669-75C>G rs17338583 0.06936
NM_000135.4(FANCA):c.1143G>T (p.Thr381=) rs1800331 0.06866
NM_023110.3(FGFR1):c.-699C>T rs328307 0.06862
NM_033022.4(RPS24):c.391-3C>A rs7899453 0.06807
NM_001457.4(FLNB):c.2055+274del rs35415261 0.06556
NM_004329.3(BMPR1A):c.431-26T>A rs7920259 0.06507
NM_000135.4(FANCA):c.17T>A (p.Val6Asp) rs1800282 0.06490
NM_001099274.3(TINF2):c.1140G>A (p.Pro380=) rs10141326 0.06408
NM_032444.4(SLX4):c.1371T>G (p.Asn457Lys) rs74319927 0.06397
NM_032444.4(SLX4):c.1152A>G (p.Pro384=) rs112511042 0.06386
NM_032444.4(SLX4):c.1156A>G (p.Met386Val) rs113490934 0.06384
NM_000135.4(FANCA):c.894-8A>G rs11648881 0.06110
NM_000022.4(ADA):c.239A>G (p.Lys80Arg) rs11555566 0.05947
NM_000135.4(FANCA):c.1927C>G (p.Pro643Ala) rs17232910 0.05919
NM_000135.4(FANCA):c.2779-7T>C rs17233253 0.05872
NM_000135.4(FANCA):c.2901C>T (p.Ser967=) rs17226980 0.05869
NM_000135.4(FANCA):c.3982A>G (p.Thr1328Ala) rs9282681 0.05868
NM_000135.4(FANCA):c.3067-4T>C rs17227064 0.05860
NM_000135.4(FANCA):c.1235C>T (p.Ala412Val) rs11646374 0.05837
NM_005529.7(HSPG2):c.9710-65G>A rs74060191 0.05742
NM_001018.5(RPS15):c.63C>T (p.Asp21=) rs7251165 0.05357
NM_000135.4(FANCA):c.3263C>T (p.Ser1088Phe) rs17233497 0.05303
NM_005359.6(SMAD4):c.905-52A>G rs948589 0.05280
NM_001844.5(COL2A1):c.4318-91C>T rs61048429 0.05196
NM_032444.4(SLX4):c.555C>T (p.Asp185=) rs74640850 0.04956
NM_032444.4(SLX4):c.2855C>T (p.Ala952Val) rs78637028 0.04932
NM_032444.4(SLX4):c.3662C>T (p.Ala1221Val) rs3827530 0.04930
NM_032444.4(SLX4):c.678C>T (p.His226=) rs28516461 0.04916
NM_001143992.2(WRAP53):c.1308T>C (p.Ala436=) rs34016213 0.04793
NM_000208.4(INSR):c.3033C>T (p.Tyr1011=) rs1799815 0.04745
NM_032444.4(SLX4):c.3812C>T (p.Ser1271Phe) rs3810813 0.04718
NM_000552.5(VWF):c.3539-33G>A rs148995386 0.04652
NM_001113378.2(FANCI):c.164C>T (p.Pro55Leu) rs62020347 0.04602
NM_004329.3(BMPR1A):c.435G>A (p.Pro145=) rs11818239 0.04296
NM_000022.2(ADA):c.22G>A (p.Asp8Asn) rs73598374 0.04175
NM_016038.4(SBDS):c.129-71G>A rs62466589 0.04156
NM_025099.6(CTC1):c.2160C>T (p.Thr720=) rs3027235 0.04058
NM_005529.7(HSPG2):c.7446+96G>A rs113035731 0.04046
NM_005529.7(HSPG2):c.10355+85G>T rs35423650 0.03833
NM_170707.4(LMNA):c.1968+26A>G rs80264244 0.03826
NM_000088.4(COL1A1):c.696+54G>A rs73987447 0.03766
NM_001099274.3(TINF2):c.710G>A (p.Gly237Asp) rs17102313 0.03737
NM_000020.3(ACVRL1):c.61+22A>G rs706812 0.03730
NM_000208.4(INSR):c.2231+20C>A rs6413502 0.03725
NM_016038.4(SBDS):c.651C>T (p.Phe217=) rs73151675 0.03660
NM_000402.4(G6PD):c.292G>A (p.Val98Met) rs1050828 0.03616
NM_000179.3(MSH6):c.261-36A>G rs1800931 0.03614
NM_012452.3(TNFRSF13B):c.291T>G (p.Pro97=) rs35062843 0.03423
NM_032444.4(SLX4):c.3162G>A (p.Ser1054=) rs76488917 0.03405
NM_005529.7(HSPG2):c.3744-65C>T rs34855688 0.03328
NM_001018115.3(FANCD2):c.2712C>T (p.Asn904=) rs35594075 0.03203
NM_020937.4(FANCM):c.2670T>C (p.Phe890=) rs8017226 0.03114
NM_003242.6(TGFBR2):c.1167C>T (p.Asn389=) rs2228048 0.03013
NM_020937.4(FANCM):c.6141T>C (p.Asp2047=) rs8018014 0.03012
NM_000208.4(INSR):c.1123+21G>A rs13306458 0.03006
NM_004629.2(FANCG):c.890C>T (p.Thr297Ile) rs2237857 0.02968
NM_001018115.3(FANCD2):c.1367T>G (p.Leu456Arg) rs35782247 0.02918
NM_000135.4(FANCA):c.3348+18A>G rs1800347 0.02828
NM_005359.6(SMAD4):c.*1179T>C rs10470 0.02819
NM_000208.4(INSR):c.1610+23C>T rs9676400 0.02818
NM_001018115.3(FANCD2):c.2124T>C (p.Phe708=) rs9809716 0.02768
NM_000138.5(FBN1):c.6617-21A>T rs363823 0.02754
NM_000302.4(PLOD1):c.168+79C>T rs744754 0.02651
NM_000455.5(STK11):c.816C>T (p.Tyr272=) rs9282859 0.02603
NM_016038.4(SBDS):c.635T>C (p.Ile212Thr) rs79344818 0.02573
NM_024675.4(PALB2):c.3300T>G (p.Thr1100=) rs45516100 0.02529
NM_001844.5(COL2A1):c.3597+62C>T rs73297147 0.02515
NM_001143992.2(WRAP53):c.31C>T (p.Pro11Ser) rs17880282 0.02475
NM_020366.4(RPGRIP1):c.3719G>A (p.Gly1240Glu) rs34725281 0.02464
NM_001018115.3(FANCD2):c.1868A>C (p.Gln623Pro) rs36070315 0.02463
NM_004612.4(TGFBR1):c.805+39A>G rs11568778 0.02404
NM_000249.4(MLH1):c.2152C>T (p.His718Tyr) rs2020873 0.02345
NM_001999.4(FBN2):c.2555-184T>G rs62375019 0.02297
NM_032444.4(SLX4):c.3783G>A (p.Pro1261=) rs77699867 0.02290
NM_032444.4(SLX4):c.4581G>A (p.Pro1527=) rs78635099 0.02283
NM_000136.3(FANCC):c.1345G>A (p.Val449Met) rs1800367 0.02254
NM_000969.5(RPL5):c.165G>A (p.Val55=) rs58263806 0.02253
NM_025099.6(CTC1):c.366A>G (p.Ala122=) rs73244859 0.02139
NM_000179.3(MSH6):c.2253T>C (p.Asn751=) rs2020913 0.02003
NM_000138.5(FBN1):c.1960+30G>A rs25459 0.01932
NM_001114753.3(ENG):c.991+58A>T rs12002508 0.01910
NM_000033.4(ABCD1):c.1393+31C>T rs73633774 0.01908
NM_005529.7(HSPG2):c.3794-78A>T rs60060959 0.01893
NM_001114753.3(ENG):c.360+21C>T rs41355248 0.01861
NM_004006.3(DMD):c.4072-389G>T rs16990318 0.01812
NM_000138.5(FBN1):c.443-35A>G rs116842662 0.01770
NM_001114753.3(ENG):c.1311+94A>G rs41335948 0.01761
NM_000546.6(TP53):c.993+12T>C rs1800899 0.01614
NM_003001.5(SDHC):c.-38G>A rs112556972 0.01611
NM_000518.4(HBB):c.*182G>A rs113969885 0.01596
NM_001377.3(DYNC2H1):c.10327-53A>G rs116174151 0.01569
NM_001370658.1(BTD):c.1111C>T (p.Pro371Ser) rs35034250 0.01555
NM_182961.4(SYNE1):c.8336T>G (p.Ile2779Ser) rs77121899 0.01555
NM_025099.6(CTC1):c.3153G>C (p.Arg1051=) rs3027242 0.01548
NM_004329.3(BMPR1A):c.1140C>T (p.Asp380=) rs35572415 0.01512
NM_000180.4(GUCY2D):c.1724C>T (p.Pro575Leu) rs28743021 0.01496
NM_000520.6(HEXA):c.672+30T>G rs117160567 0.01494
NM_002471.4(MYH6):c.3979-7del rs397516766 0.01401
NM_000179.3(MSH6):c.1164C>T (p.His388=) rs55708305 0.01384
NM_025099.6(CTC1):c.2162G>C (p.Gly721Ala) rs62620189 0.01383
NM_000179.3(MSH6):c.2272C>T (p.Leu758=) rs56371757 0.01363
NM_001114753.3(ENG):c.524-30G>A rs41409546 0.01314
NM_000141.5(FGFR2):c.110-54C>T rs3135732 0.01267
NM_147127.5(EVC2):c.2707-66C>T rs112863054 0.01258
NM_000038.6(APC):c.3732A>G (p.Gln1244=) rs74380081 0.01174
NM_000038.6(APC):c.1695A>G (p.Glu565=) rs77921116 0.01170
NM_000249.4(MLH1):c.1039-8T>A rs193922367 0.01153
NM_001042492.3(NF1):c.3974+38T>G rs9894862 0.01144
NM_020937.4(FANCM):c.624A>G (p.Ile208Met) rs45547534 0.01077
NM_020366.4(RPGRIP1):c.2417C>T (p.Thr806Ile) rs142796310 0.01022
NM_000133.4(F9):c.1095A>G (p.Ser365=) rs112057482 0.01021
NM_001042492.3(NF1):c.4578-39A>G rs8072417 0.01018
NM_001042492.3(NF1):c.1846-39C>T rs17885830 0.01017
NM_032444.4(SLX4):c.4338C>T (p.Thr1446=) rs77718962 0.00998
NM_032119.4(ADGRV1):c.11031C>T (p.Asn3677=) rs75480336 0.00991
NM_000546.6(TP53):c.108G>A (p.Pro36=) rs1800370 0.00974
NM_147127.5(EVC2):c.3361-89C>A rs116392680 0.00965
NM_002471.4(MYH6):c.3627C>T (p.Ile1209=) rs147871745 0.00930
NM_002471.4(MYH6):c.3480C>T (p.Ser1160=) rs373345984 0.00929
NM_003000.3(SDHB):c.487T>C (p.Ser163Pro) rs33927012 0.00921
NM_000142.5(FGFR3):c.109+26G>A rs17884282 0.00910
NM_004239.4(TRIP11):c.5160+59A>G rs117502191 0.00901
NM_002661.5(PLCG2):c.2262C>T (p.Asp754=) rs74032923 0.00884
NM_000243.3(MEFV):c.1261-11T>G rs77086855 0.00875
NM_000179.3(MSH6):c.3306T>A (p.Thr1102=) rs2020910 0.00869
NM_001018115.3(FANCD2):c.2484G>A (p.Lys828=) rs55980657 0.00869
NM_000208.4(INSR):c.3259-31C>T rs148813626 0.00848
NM_001042492.3(NF1):c.4835+36T>C rs16972128 0.00844
NM_000133.4(F9):c.1110G>A (p.Gln370=) rs34698779 0.00833
NM_005529.7(HSPG2):c.8165-93G>A rs77375768 0.00829
NM_000208.4(INSR):c.262T>C (p.Leu88=) rs61736580 0.00797
NM_153676.4(USH1C):c.2499C>T (p.Ile833=) rs34581703 0.00789
NM_002838.5(PTPRC):c.1268C>T (p.Thr423Ile) rs6696162 0.00748
NM_004006.3(DMD):c.3603+8A>G rs193249735 0.00743
NM_006446.5(SLCO1B1):c.1747+9A>G rs71577817 0.00741
NM_001370466.1(NOD2):c.337G>A (p.Ala113Thr) rs34684955 0.00726
NM_000218.3(KCNQ1):c.387-17G>A rs28730661 0.00702
NM_022356.4(P3H1):c.940+90A>G rs114545255 0.00700
NM_206933.4(USH2A):c.10552G>A (p.Val3518Ile) rs75397806 0.00696
NM_003002.4(SDHD):c.312C>T (p.His104=) rs61734352 0.00690
NM_002769.5(PRSS1):c.40+34C>T rs202051517 0.00687
NM_003002.4(SDHD):c.149A>G (p.His50Arg) rs11214077 0.00679
NM_007217.4(PDCD10):c.-116-9T>C rs146858915 0.00636
NM_017780.4(CHD7):c.6111C>T (p.Pro2037=) rs41312170 0.00625
NM_000541.5(SAG):c.1091C>T (p.Pro364Leu) rs112613526 0.00622
NM_002769.5(PRSS1):c.200+23C>T rs112426474 0.00622
NM_001148.6(ANK2):c.1881+8C>G rs74976371 0.00612
NM_032444.4(SLX4):c.90C>T (p.Ser30=) rs118089506 0.00612
NM_182961.4(SYNE1):c.15313G>A (p.Asp5105Asn) rs35493783 0.00602
NM_002180.3(IGHMBP2):c.2025C>T (p.Thr675=) rs138396245 0.00580
NM_005629.4(SLC6A8):c.1255-31C>T rs193175235 0.00580
NM_015404.4(WHRN):c.667C>T (p.Arg223Cys) rs76593842 0.00578
NM_017780.4(CHD7):c.5051-4C>T rs71640288 0.00577
NM_000179.3(MSH6):c.1186C>G (p.Leu396Val) rs2020908 0.00565
NM_001377.3(DYNC2H1):c.11726-10A>T rs185916947 0.00561
NM_206933.4(USH2A):c.14226G>A (p.Thr4742=) rs78576418 0.00545
NM_001143992.2(WRAP53):c.1223G>A (p.Gly408Asp) rs116535684 0.00539
NM_000208.4(INSR):c.1123+13G>T rs72549236 0.00526
NM_001374353.1(GLI2):c.3539G>A (p.Gly1180Asp) rs114823319 0.00522
NM_012452.3(TNFRSF13B):c.542C>A (p.Ala181Glu) rs72553883 0.00518
NM_017780.4(CHD7):c.1018A>G (p.Met340Val) rs41305525 0.00505
NM_000053.4(ATP7B):c.*15C>T rs73498144 0.00493
NM_000142.5(FGFR3):c.663G>A (p.Ser221=) rs114421370 0.00485
NR_001566.1(TERC):n.228G>A rs141686314 0.00478
NM_000251.3(MSH2):c.1666T>C (p.Leu556=) rs61756466 0.00471
NM_001364905.1(LRBA):c.3350G>T (p.Gly1117Val) rs35977354 0.00462
NM_001364905.1(LRBA):c.3826-5A>G rs114629781 0.00462
NM_000180.4(GUCY2D):c.2577G>T (p.Pro859=) rs112372281 0.00461
NM_001365536.1(SCN9A):c.2517+6C>T rs145316463 0.00460
NM_000441.2(SLC26A4):c.416-13T>C rs77553387 0.00455
NM_000059.4(BRCA2):c.9257-113T>G rs191553604 0.00449
NM_025132.4(WDR19):c.3115-47T>C rs75158432 0.00449
NM_024301.5(FKRP):c.235G>A (p.Val79Met) rs104894683 0.00435
NM_000179.3(MSH6):c.457+13A>G rs1800933 0.00434
NM_000053.4(ATP7B):c.3015C>T (p.Asn1005=) rs74085888 0.00430
NM_000053.4(ATP7B):c.3101A>G (p.His1034Arg) rs74085882 0.00430
NM_033056.4(PCDH15):c.5603C>T (p.Thr1868Met) rs191736346 0.00423
NM_032444.4(SLX4):c.1637A>G (p.Tyr546Cys) rs150547487 0.00416
NM_000088.4(COL1A1):c.2127+60T>C rs112502723 0.00414
NM_000038.6(APC):c.933+30A>G rs145211300 0.00412
NM_206933.4(USH2A):c.8937A>G (p.Val2979=) rs139100097 0.00404
NM_001369369.1(FOXN1):c.1710G>A (p.Ser570=) rs143371127 0.00399
NM_002180.3(IGHMBP2):c.1770T>C (p.Phe590=) rs138997061 0.00398
NM_002180.3(IGHMBP2):c.1294G>A (p.Ala432Thr) rs116012780 0.00392
NM_000088.4(COL1A1):c.4005+44G>A rs145008436 0.00381
NM_001042492.3(NF1):c.-22G>C rs556823296 0.00381
NM_000074.2(CD40LG):c.-189A>C rs184119101 0.00369
NM_001267550.2(TTN):c.72931A>G (p.Thr24311Ala) rs56201325 0.00364
NM_004006.3(DMD):c.5448+148G>T rs72468625 0.00360
NM_000138.5(FBN1):c.3082+8del rs193922196 0.00359
NM_182961.4(SYNE1):c.3188T>C (p.Val1063Ala) rs141464488 0.00359
NM_024753.5(TTC21B):c.724G>A (p.Asp242Asn) rs74447004 0.00356
NM_001042492.3(NF1):c.2252-31A>T rs141082540 0.00355
NM_002769.5(PRSS1):c.592-24C>T rs192452846 0.00354
NM_005529.7(HSPG2):c.4221+61G>T rs56270915 0.00350
NM_022124.6(CDH23):c.2954-14G>A rs191534381 0.00347
NM_021815.5(SLC5A7):c.826C>T (p.Leu276=) rs78245030 0.00330
NM_001377.3(DYNC2H1):c.9939T>C (p.Ala3313=) rs192003811 0.00327
NM_206933.4(USH2A):c.4543A>G (p.Thr1515Ala) rs141671082 0.00327
NM_000038.6(APC):c.4420G>A (p.Ala1474Thr) rs139387758 0.00324
NM_016038.4(SBDS):c.258+2T>C rs113993993 0.00323
NM_005529.7(HSPG2):c.703+22C>T rs185397994 0.00321
NM_001006658.3(CR2):c.2611G>T (p.Val871Leu) rs144572703 0.00319
NM_000203.5(IDUA):c.1345C>A (p.His449Asn) rs532731688 0.00315
NM_001267550.2(TTN):c.25921+20G>A rs148460010 0.00315
NM_000138.5(FBN1):c.8283A>T (p.Thr2761=) rs146120912 0.00314
NM_000251.3(MSH2):c.339G>A (p.Lys113=) rs35898375 0.00313
NM_000539.3(RHO):c.360C>T (p.Gly120=) rs79765751 0.00312
NM_003978.5(PSTPIP1):c.1206C>T (p.Asn402=) rs146035424 0.00308
NM_000243.3(MEFV):c.-15C>G rs11466015 0.00306
NM_024577.4(SH3TC2):c.3686A>T (p.Asp1229Val) rs146920285 0.00306
NM_000138.5(FBN1):c.2055C>T (p.Cys685=) rs140603 0.00304
NM_015046.7(SETX):c.7724C>T (p.Pro2575Leu) rs34000644 0.00304
NM_001110792.2(MECP2):c.413+28A>G rs185036026 0.00301
NM_005529.7(HSPG2):c.6724+50C>T rs72866974 0.00301
NM_030943.4(AMN):c.1170-6C>T rs386834164 0.00296
NM_002296.4(LBR):c.995C>T (p.Ala332Val) rs141647564 0.00293
NM_206933.4(USH2A):c.14454G>A (p.Pro4818=) rs137902779 0.00293
NM_001110792.2(MECP2):c.719C>G (p.Thr240Ser) rs61749738 0.00291
NM_000552.5(VWF):c.3109-30C>T rs535850523 0.00290
NM_001267550.2(TTN):c.94851T>A (p.Asp31617Glu) rs72648256 0.00290
NM_020529.3(NFKBIA):c.581G>C (p.Gly194Ala) rs148656104 0.00287
NM_000038.6(APC):c.3165A>T (p.Ile1055=) rs61734287 0.00286
NM_020779.4(WDR35):c.1470+131T>A rs192330354 0.00277
NM_004100.5(EYA4):c.804+16G>T rs13362743 0.00276
NM_182961.4(SYNE1):c.2177A>G (p.Glu726Gly) rs35297226 0.00276
NM_001084.5(PLOD3):c.110-153T>C rs184771174 0.00275
NM_206933.4(USH2A):c.10858A>G (p.Ile3620Val) rs145207584 0.00275
NM_000059.4(BRCA2):c.67+62T>G rs11571574 0.00274
NM_006158.5(NEFL):c.584C>T (p.Ala195Val) rs185200977 0.00274
NM_001018005.2(TPM1):c.180C>T (p.Tyr60=) rs17850194 0.00273
NM_017780.4(CHD7):c.7579A>C (p.Met2527Leu) rs192129249 0.00267
NM_021625.5(TRPV4):c.712+10C>T rs115657305 0.00260
NM_001130823.3(DNMT1):c.4773+18C>T rs183300496 0.00255
NM_014874.4(MFN2):c.1403G>A (p.Arg468His) rs138382758 0.00255
NM_001130823.3(DNMT1):c.4503C>T (p.Cys1501=) rs149271718 0.00254
NM_201253.3(CRB1):c.600A>G (p.Thr200=) rs77713666 0.00254
NM_004082.5(DCTN1):c.3594C>T (p.Thr1198=) rs115689748 0.00250
NM_005529.7(HSPG2):c.3945T>C (p.Ser1315=) rs72866991 0.00243
NM_001042492.3(NF1):c.655-29T>C rs182325576 0.00240
NM_001148.6(ANK2):c.9286A>G (p.Ser3096Gly) rs144158934 0.00238
NM_000326.5(RLBP1):c.9A>C (p.Glu3Asp) rs146844731 0.00236
NM_004239.4(TRIP11):c.3604A>C (p.Asn1202His) rs41301481 0.00236
NM_000033.4(ABCD1):c.38A>C (p.Asn13Thr) rs183021839 0.00235
NM_001035.3(RYR2):c.2204-16G>T rs368648602 0.00235
NM_000135.4(FANCA):c.1874G>C (p.Cys625Ser) rs139235751 0.00230
NM_001031834.1(RAB40AL):c.257G>A (p.Gly86Asp) rs146065311 0.00228
NM_025132.4(WDR19):c.1915A>G (p.Ser639Gly) rs150649460 0.00222
NM_005359.6(SMAD4):c.1140-10T>C rs186332162 0.00221
NM_001110556.2(FLNA):c.7686C>T (p.Ala2562=) rs76337075 0.00219
NM_001079802.2(FKTN):c.167G>A (p.Arg56His) rs146951171 0.00218
NM_000112.4(SLC26A2):c.2087A>G (p.Asn696Ser) rs34351171 0.00214
NM_001303.4(COX10):c.1291C>T (p.Arg431Trp) rs113058506 0.00212
NM_002047.4(GARS1):c.1420C>A (p.Arg474=) rs113958280 0.00210
NM_002890.3(RASA1):c.1371G>A (p.Lys457=) rs140707293 0.00208
NM_004356.4(CD81):c.414T>C (p.Asp138=) rs143644902 0.00208
NM_001148.6(ANK2):c.11860-18T>G rs138978479 0.00207
NM_206933.4(USH2A):c.5932C>T (p.Pro1978Ser) rs75698489 0.00203
NM_153717.3(EVC):c.1826G>A (p.Arg609Gln) rs41269557 0.00201
NM_000719.7(CACNA1C):c.1794C>T (p.Gly598=) rs116491041 0.00200
NM_000093.5(COL5A1):c.2700+38G>A rs373636275 0.00199
NM_001377229.1(DISP1):c.414G>A (p.Thr138=) rs143316612 0.00196
NM_005529.7(HSPG2):c.4627-3del rs368983547 0.00195
NM_032043.3(BRIP1):c.2937A>G (p.Lys979=) rs75091137 0.00194
NM_004329.3(BMPR1A):c.777G>A (p.Ala259=) rs56108371 0.00192
NM_000059.4(BRCA2):c.231T>G (p.Thr77=) rs114446594 0.00191
NM_181882.3(PRX):c.3373G>A (p.Gly1125Ser) rs148939995 0.00191
NM_024753.5(TTC21B):c.1676T>G (p.Val559Gly) rs149325238 0.00190
NM_032119.4(ADGRV1):c.11201T>C (p.Val3734Ala) rs113498662 0.00189
NM_000071.3(CBS):c.954+8G>A rs76292057 0.00188
NM_194454.3(KRIT1):c.1140G>A (p.Thr380=) rs140009885 0.00187
NM_000251.3(MSH2):c.23C>T (p.Thr8Met) rs17217716 0.00184
NM_000182.5(HADHA):c.1528G>C (p.Glu510Gln) rs137852769 0.00182
NM_000350.3(ABCA4):c.3113C>T (p.Ala1038Val) rs61751374 0.00178
NM_182961.4(SYNE1):c.5999G>A (p.Arg2000Lys) rs149146258 0.00178
NM_000719.7(CACNA1C):c.1669+10G>A rs576194052 0.00175
NM_000243.3(MEFV):c.1610+21G>A rs113925050 0.00173
NM_153717.3(EVC):c.934G>A (p.Asp312Asn) rs115275195 0.00171
NM_001457.4(FLNB):c.6684C>T (p.Ile2228=) rs138416613 0.00170
NM_001167623.2(CACNA1C):c.3883A>G (p.Ile1295Val) rs114851656 0.00169
NM_000138.5(FBN1):c.3509G>A (p.Arg1170His) rs137854475 0.00168
NM_000314.8(PTEN):c.132C>T (p.Gly44=) rs150651961 0.00168
NM_033056.4(PCDH15):c.5565C>T (p.Ala1855=) rs111033445 0.00168
NM_002693.3(POLG):c.1837C>T (p.His613Tyr) rs147407423 0.00166
NM_000051.4(ATM):c.7788+8G>T rs112775908 0.00165
NM_000168.6(GLI3):c.1243-40A>C rs77659679 0.00163
NM_004006.3(DMD):c.1483-7C>G rs112463388 0.00162
NM_001457.4(FLNB):c.6642C>T (p.Phe2214=) rs140786324 0.00161
NM_021625.5(TRPV4):c.57C>T (p.Pro19=) rs112408790 0.00161
NM_000179.3(MSH6):c.3801+17T>C rs3136365 0.00159
NM_206933.4(USH2A):c.13709G>A (p.Arg4570His) rs730254 0.00158
NM_000431.4(MVK):c.1129G>A (p.Val377Ile) rs28934897 0.00156
NM_001081.4(CUBN):c.5069C>T (p.Ala1690Val) rs141640975 0.00155
NM_001204.7(BMPR2):c.622-35A>T rs147197594 0.00155
NM_001048174.2(MUTYH):c.1501C>A (p.Leu501Met) rs3219496 0.00154
NM_001035.3(RYR2):c.4596+12G>A rs148557427 0.00153
NM_024577.4(SH3TC2):c.1177+10G>A rs139257109 0.00153
NM_001377.3(DYNC2H1):c.9749A>G (p.Gln3250Arg) rs140830294 0.00151
NM_005422.4(TECTA):c.3097C>T (p.Arg1033Trp) rs142486386 0.00149
NM_000883.4(IMPDH1):c.1489C>T (p.Arg497Trp) rs72624967 0.00147
NM_000059.4(BRCA2):c.3515C>T (p.Ser1172Leu) rs80358600 0.00146
NM_147127.5(EVC2):c.3411C>T (p.Ala1137=) rs144532809 0.00146
NM_020779.4(WDR35):c.1248T>G (p.Ile416Met) rs144701688 0.00145
NM_032119.4(ADGRV1):c.5072C>T (p.Thr1691Met) rs146954342 0.00145
NM_000038.6(APC):c.6921G>A (p.Ser2307=) rs2229993 0.00143
NM_000249.4(MLH1):c.2146G>A (p.Val716Met) rs35831931 0.00143
NM_000251.3(MSH2):c.1387-8G>T rs187525243 0.00143
NM_022489.4(INF2):c.1647A>G (p.Ala549=) rs201674759 0.00143
NM_001853.4(COL9A3):c.237G>A (p.Pro79=) rs141960487 0.00142
NM_015046.7(SETX):c.7101A>G (p.Gly2367=) rs79233884 0.00141
NM_000018.4(ACADVL):c.1606-22C>T rs370303265 0.00139
NM_000314.8(PTEN):c.-9C>G rs11202592 0.00139
NM_000251.3(MSH2):c.1737A>G (p.Lys579=) rs61756467 0.00138
NM_000257.4(MYH7):c.2358G>A (p.Thr786=) rs36211714 0.00137
NM_002439.5(MSH3):c.792+8G>A rs147777411 0.00136
NM_001009944.3(PKD1):c.11017-3C>T rs185355445 0.00135
NM_001370298.3(FGD4):c.2560G>A (p.Val854Met) rs61753359 0.00131
NM_032119.4(ADGRV1):c.1776C>A (p.Val592=) rs184127858 0.00131
NM_000314.8(PTEN):c.79+35C>T rs190707033 0.00130
NM_032578.4(MYPN):c.59A>G (p.Tyr20Cys) rs140148105 0.00130
NM_206933.4(USH2A):c.2167+17A>G rs181777364 0.00129
NM_001006658.3(CR2):c.2903-3C>A rs372214909 0.00128
NM_001110556.2(FLNA):c.1813G>A (p.Asp605Asn) rs201093148 0.00128
NM_002626.6(PFKL):c.2209C>T (p.Arg737Trp) rs118106526 0.00128
NM_024577.4(SH3TC2):c.73G>T (p.Asp25Tyr) rs10066882 0.00128
NM_001042492.3(NF1):c.1846-12A>T rs188510882 0.00124
NM_020779.4(WDR35):c.1755C>T (p.Val585=) rs146130105 0.00124
NM_001130823.3(DNMT1):c.768+12T>A rs189898346 0.00123
NM_001130823.3(DNMT1):c.768+18C>A rs200380915 0.00123
NM_000459.5(TEK):c.3090G>A (p.Glu1030=) rs56133834 0.00121
NM_003322.6(TULP1):c.99+18G>A rs144077749 0.00121
NM_004517.4(ILK):c.631C>T (p.Arg211Cys) rs140322345 0.00121
NM_001370259.2(MEN1):c.1296G>A (p.Leu432=) rs138770431 0.00119
NM_006070.6(TFG):c.1060C>G (p.Pro354Ala) rs111356679 0.00119
NM_001009944.3(PKD1):c.588C>T (p.Ser196=) rs776302294 0.00116
NM_002471.4(MYH6):c.1122G>A (p.Ala374=) rs148091079 0.00116
NM_000138.5(FBN1):c.6073G>T (p.Ala2025Ser) rs113577372 0.00115
NM_000337.6(SGCD):c.213G>A (p.Arg71=) rs74846539 0.00115
NM_000138.5(FBN1):c.4441A>G (p.Ser1481Gly) rs61730054 0.00113
NM_001005361.3(DNM2):c.1782-5C>T rs200103145 0.00113
NM_001033855.3(DCLRE1C):c.36A>C (p.Pro12=) rs148108773 0.00113
NM_004006.3(DMD):c.7571G>A (p.Arg2524His) rs151244052 0.00109
NM_000059.4(BRCA2):c.175C>G (p.Pro59Ala) rs56091799 0.00108
NM_021939.4(FKBP10):c.1256C>T (p.Ser419Leu) rs146422412 0.00107
NM_000112.4(SLC26A2):c.835C>T (p.Arg279Trp) rs104893915 0.00106
NM_001282426.2(PIK3CG):c.1722G>A (p.Leu574=) rs144082858 0.00106
NC_000016.10:g.177603A>T rs545195355 0.00105
NM_206933.4(USH2A):c.7060C>T (p.Arg2354Cys) rs111033508 0.00102
NM_000179.3(MSH6):c.984C>T (p.Ser328=) rs138143769 0.00101
NM_000552.5(VWF):c.4443G>T (p.Gly1481=) rs144796763 0.00101
NM_000059.4(BRCA2):c.7504C>T (p.Arg2502Cys) rs55716624 0.00100
NM_032578.4(MYPN):c.3792C>T (p.Tyr1264=) rs142307556 0.00100
NM_003172.4(SURF1):c.211G>C (p.Val71Leu) rs147993882 0.00099
NM_206933.4(USH2A):c.4796G>A (p.Gly1599Asp) rs148153079 0.00099
NM_015404.4(WHRN):c.1943C>A (p.Ser648Tyr) rs142653982 0.00098
NM_020779.4(WDR35):c.1471-7A>G rs376388391 0.00098
NM_021625.5(TRPV4):c.854-4G>A rs371733585 0.00098
NM_001103.4(ACTN2):c.2076C>T (p.Ile692=) rs144122893 0.00097
NM_003476.5(CSRP3):c.299G>A (p.Arg100His) rs138218523 0.00097
NM_020779.4(WDR35):c.3335A>G (p.Lys1112Arg) rs138007924 0.00097
NM_000256.3(MYBPC3):c.2914C>T (p.Arg972Trp) rs193922382 0.00096
NM_001042492.3(NF1):c.*29A>G rs139147882 0.00096
NM_000089.4(COL1A2):c.3712-80C>T rs114796185 0.00095
NM_007294.4(BRCA1):c.3022A>G (p.Met1008Val) rs56321129 0.00095
NM_020779.4(WDR35):c.770T>C (p.Val257Ala) rs142955097 0.00095
NM_173495.3(PTCHD1):c.1013-12C>G rs200934310 0.00095
NM_000552.5(VWF):c.5278G>A (p.Val1760Ile) rs61750604 0.00094
NM_000459.5(TEK):c.1900C>T (p.Leu634Phe) rs35378598 0.00093
NM_015506.3(MMACHC):c.271dup (p.Arg91fs) rs398124292 0.00093
NM_003242.6(TGFBR2):c.106A>G (p.Met36Val) rs17025864 0.00092
NM_001371389.2(FBXO41):c.1390C>T (p.Arg464Cys) rs199960192 0.00091
NM_005422.4(TECTA):c.1002C>T (p.Asp334=) rs35282525 0.00090
NM_001844.5(COL2A1):c.2095-4G>A rs111570218 0.00089
NM_002626.6(PFKL):c.1907C>A (p.Thr636Lys) rs141250471 0.00089
NM_000465.4(BARD1):c.90T>A (p.Gly30=) rs150354152 0.00088
NM_006017.3(PROM1):c.714A>G (p.Gly238=) rs201662148 0.00088
NM_000260.4(MYO7A):c.4620G>A (p.Ala1540=) rs41298745 0.00087
NM_000329.3(RPE65):c.1129-14A>G rs113329701 0.00086
NM_016203.4(PRKAG2):c.1584+7C>T rs111627309 0.00086
NM_018706.7(DHTKD1):c.721A>T (p.Met241Leu) rs149066296 0.00086
NM_000288.4(PEX7):c.615C>T (p.Asp205=) rs147298444 0.00085
NM_001148.6(ANK2):c.4373A>G (p.Glu1458Gly) rs72544141 0.00085
NM_001384140.1(PCDH15):c.949T>A (p.Ser317Thr) rs140736502 0.00085
NM_020366.4(RPGRIP1):c.808A>G (p.Ile270Val) rs372615343 0.00084
NM_147127.5(EVC2):c.913G>T (p.Ala305Ser) rs150367317 0.00083
NM_182961.4(SYNE1):c.25381G>A (p.Glu8461Lys) rs119103248 0.00083
NM_003073.5(SMARCB1):c.267C>T (p.Thr89=) rs141275968 0.00082
NM_000435.3(NOTCH3):c.1607-5C>A rs372869012 0.00081
NM_000435.3(NOTCH3):c.2835G>A (p.Ser945=) rs141346023 0.00081
NM_001048174.2(MUTYH):c.1192C>T (p.Arg398Cys) rs150792276 0.00081
NM_001374353.1(GLI2):c.4030G>T (p.Val1344Leu) rs145939921 0.00081
NM_001377.3(DYNC2H1):c.2482A>G (p.Met828Val) rs200961157 0.00081
NM_001605.3(AARS1):c.1632C>T (p.Asp544=) rs149425243 0.00081
NM_002693.3(POLG):c.2243G>C (p.Trp748Ser) rs113994097 0.00081
NM_153676.4(USH1C):c.114C>T (p.Asp38=) rs137962152 0.00081
NM_000090.4(COL3A1):c.1550C>T (p.Pro517Leu) rs142085247 0.00080
NM_001009944.3(PKD1):c.8247G>A (p.Ala2749=) rs143265128 0.00080
NM_005422.4(TECTA):c.2367+9C>T rs368080945 0.00079
NM_005529.7(HSPG2):c.13145C>A (p.Ala4382Asp) rs116316900 0.00079
NM_000283.4(PDE6B):c.1497T>G (p.Phe499Leu) rs150000610 0.00078
NM_005334.3(HCFC1):c.3492C>T (p.Ser1164=) rs376049260 0.00078
NM_005529.7(HSPG2):c.5648C>T (p.Ala1883Val) rs140954748 0.00078
NM_007294.4(BRCA1):c.5278-22C>T rs185646848 0.00078
NM_015139.3(SLC35D1):c.814G>A (p.Ala272Thr) rs143218310 0.00078
NM_000089.4(COL1A2):c.2123G>A (p.Arg708Gln) rs72658163 0.00077
NM_001927.4(DES):c.170C>T (p.Ser57Leu) rs372825868 0.00077
NM_002972.4(SBF1):c.3760C>T (p.Arg1254Cys) rs200180227 0.00077
NM_004984.4(KIF5A):c.2199-4G>A rs201366820 0.00077
NM_001282426.2(PIK3CG):c.1613C>T (p.Pro538Leu) rs142822484 0.00076
NM_020366.4(RPGRIP1):c.2555G>A (p.Arg852Gln) rs181758389 0.00076
NM_000288.4(PEX7):c.339+10A>G rs374668045 0.00075
NM_001110556.2(FLNA):c.3064C>G (p.Pro1022Ala) rs200150148 0.00075
NM_002485.5(NBN):c.1354A>C (p.Thr452Pro) rs141137543 0.00075
NM_015046.7(SETX):c.3010A>G (p.Asn1004Asp) rs77984885 0.00075
NM_022124.6(CDH23):c.4512C>G (p.Thr1504=) rs562273075 0.00075
NM_001370259.2(MEN1):c.-22C>A rs374749001 0.00073
NM_001844.5(COL2A1):c.1913C>T (p.Thr638Ile) rs41263847 0.00073
NM_025114.4(CEP290):c.341G>A (p.Arg114His) rs150296134 0.00073
NM_000038.6(APC):c.1604C>T (p.Ser535Phe) rs75870842 0.00071
NM_000059.4(BRCA2):c.5198C>T (p.Ser1733Phe) rs55639415 0.00069
NM_000180.4(GUCY2D):c.1093C>T (p.Arg365Trp) rs138836357 0.00069
NM_000637.5(GSR):c.694G>A (p.Gly232Ser) rs8190976 0.00069
NM_001035.3(RYR2):c.8162T>C (p.Ile2721Thr) rs201500134 0.00069
NM_032043.3(BRIP1):c.3459T>C (p.Asp1153=) rs4987050 0.00069
NM_000492.4(CFTR):c.2735C>T (p.Ser912Leu) rs121909034 0.00068
NM_001371279.1(REEP1):c.837G>T (p.Ser279=) rs377637314 0.00068
NM_001999.4(FBN2):c.436+16G>A rs372098570 0.00068
NM_173477.5(USH1G):c.1012G>A (p.Gly338Arg) rs151242039 0.00068
NM_000018.4(ACADVL):c.1567G>A (p.Gly523Arg) rs139425622 0.00066
NM_000179.3(MSH6):c.1665A>G (p.Ala555=) rs146785465 0.00066
NM_001130823.3(DNMT1):c.731G>A (p.Gly244Glu) rs150999369 0.00066
NM_001379180.1(ESRRB):c.*1517C>T rs201726554 0.00066
NM_004004.6(GJB2):c.503A>G (p.Lys168Arg) rs200104362 0.00066
NM_006158.5(NEFL):c.639C>G (p.Ile213Met) rs62636522 0.00065
NM_000071.3(CBS):c.296T>A (p.Phe99Tyr) rs112029370 0.00064
NM_000179.3(MSH6):c.663A>C (p.Glu221Asp) rs41557217 0.00064
NM_001377.3(DYNC2H1):c.5449A>G (p.Met1817Val) rs200208000 0.00064
NM_000719.7(CACNA1C):c.5451C>T (p.His1817=) rs113239186 0.00063
NM_014249.4(NR2E3):c.904G>A (p.Val302Ile) rs1805025 0.00063
NM_024577.4(SH3TC2):c.1483A>G (p.Thr495Ala) rs10077543 0.00063
NM_206933.4(USH2A):c.4714C>T (p.Leu1572Phe) rs111033333 0.00063
NM_000033.4(ABCD1):c.258C>T (p.Val86=) rs200660869 0.00061
NM_000552.5(VWF):c.3868G>A (p.Glu1290Lys) rs138900040 0.00061
NM_001009944.3(PKD1):c.2655C>T (p.Cys885=) rs142606648 0.00061
NM_001267550.2(TTN):c.3100G>A (p.Val1034Met) rs142951505 0.00061
NM_001368067.1(LDB3):c.780C>T (p.Asn260=) rs372789789 0.00061
NM_004006.3(DMD):c.6290+30957A>C rs759078487 0.00061
NM_206933.4(USH2A):c.6924A>G (p.Ala2308=) rs148504065 0.00061
NM_000033.4(ABCD1):c.757C>G (p.Leu253Val) rs150151955 0.00060
NM_000089.4(COL1A2):c.304C>T (p.Pro102Ser) rs189557655 0.00060
NM_001009944.3(PKD1):c.8111C>T (p.Ala2704Val) rs200509641 0.00059
NM_032119.4(ADGRV1):c.1837C>A (p.Gln613Lys) rs199587998 0.00059
NM_001360016.2(G6PD):c.120+3617T>C rs368857323 0.00058
NM_001395413.1(POR):c.1806+12G>A rs371432868 0.00058
NM_015046.7(SETX):c.2479A>G (p.Lys827Glu) rs150532677 0.00058
NM_022489.4(INF2):c.*16C>T rs199912466 0.00058
NM_001267550.2(TTN):c.103292C>T (p.Thr34431Met) rs192001910 0.00057
NM_002626.6(PFKL):c.2212G>A (p.Glu738Lys) rs140555552 0.00057
NM_005422.4(TECTA):c.4611C>T (p.Pro1537=) rs138477419 0.00057
NM_005428.4(VAV1):c.738T>C (p.Val246=) rs61761611 0.00057
NM_000342.4(SLC4A1):c.2340G>A (p.Leu780=) rs139912334 0.00056
NM_004004.6(GJB2):c.-22-2A>C rs201895089 0.00056
NM_004999.4(MYO6):c.875T>C (p.Leu292Ser) rs144038082 0.00056
NM_015340.4(LARS2):c.1989G>T (p.Arg663=) rs139111439 0.00056
NM_006371.5(CRTAP):c.289G>C (p.Ala97Pro) rs200243989 0.00055
NM_020297.4(ABCC9):c.2770-13A>G rs184123387 0.00055
NM_206933.4(USH2A):c.2299del (p.Glu767fs) rs80338903 0.00055
NM_000059.4(BRCA2):c.1964C>G (p.Pro655Arg) rs28897712 0.00054
NM_000350.3(ABCA4):c.981C>T (p.Pro327=) rs61753057 0.00054
NM_001943.5(DSG2):c.44T>A (p.Leu15Gln) rs372174546 0.00054
NM_003098.3(SNTA1):c.787G>T (p.Ala263Ser) rs150576530 0.00054
NM_021625.5(TRPV4):c.1656del (p.Tyr553fs) rs541606391 0.00054
NM_000138.5(FBN1):c.4683C>T (p.Ser1561=) rs148024160 0.00053
NM_001330.5(CTF1):c.280C>T (p.Leu94=) rs397516648 0.00053
NM_002691.4(POLD1):c.1665C>T (p.Val555=) rs150238541 0.00053
NM_005529.7(HSPG2):c.11938G>A (p.Val3980Met) rs147860819 0.00053
NM_018979.4(WNK1):c.2401A>G (p.Ile801Val) rs139449198 0.00053
NM_080680.3(COL11A2):c.3975G>A (p.Ser1325=) rs139564431 0.00053
NM_032578.4(MYPN):c.3833G>A (p.Arg1278Gln) rs142877365 0.00052
NM_000095.3(COMP):c.218-7C>G rs554031979 0.00051
NM_001243279.3(ACSF3):c.978-7C>T rs190927208 0.00051
NM_005529.7(HSPG2):c.1557G>A (p.Leu519=) rs149710901 0.00051
NM_006904.7(PRKDC):c.7204C>T (p.Leu2402Phe) rs374403400 0.00051
NM_001006658.3(CR2):c.970C>T (p.Arg324Cys) rs147393483 0.00050
NM_001042492.3(NF1):c.7615+24del rs754290122 0.00050
NM_001267550.2(TTN):c.39466C>A (p.Pro13156Thr) rs72650064 0.00049
NM_005529.7(HSPG2):c.11072C>T (p.Thr3691Ile) rs149159881 0.00049
NM_017433.5(MYO3A):c.3037C>T (p.Arg1013Cys) rs140154015 0.00049
NM_206933.4(USH2A):c.11927C>T (p.Thr3976Met) rs142381713 0.00049
NM_000059.4(BRCA2):c.9720T>C (p.Val3240=) rs80359810 0.00048
NM_000138.5(FBN1):c.5065+10A>G rs375945405 0.00048
NM_001122955.4(BSCL2):c.1100C>T (p.Pro367Leu) rs144245125 0.00048
NM_000059.4(BRCA2):c.9649-19G>A rs11571830 0.00047
NM_001999.4(FBN2):c.6841A>T (p.Ile2281Phe) rs115223340 0.00047
NM_002485.5(NBN):c.628G>T (p.Val210Phe) rs61754796 0.00047
NM_033380.3(COL4A5):c.1588-13T>G rs201708502 0.00047
NM_000052.7(ATP7A):c.2903A>G (p.Glu968Gly) rs138958687 0.00046
NM_003322.6(TULP1):c.823-4A>G rs200264819 0.00046
NM_147127.5(EVC2):c.1452G>A (p.Leu484=) rs137884710 0.00046
NM_000059.4(BRCA2):c.5879G>A (p.Cys1960Tyr) rs56157628 0.00045
NM_000059.4(BRCA2):c.7976+12G>A rs81002827 0.00045
NM_000108.5(DLD):c.100A>G (p.Thr34Ala) rs138002793 0.00045
NM_001142864.4(PIEZO1):c.6804G>A (p.Ala2268=) rs371847339 0.00045
NM_003126.4(SPTA1):c.3742C>T (p.Arg1248Trp) rs200714808 0.00045
NM_018979.4(WNK1):c.3578G>A (p.Ser1193Asn) rs72650720 0.00045
NM_020631.6(PLEKHG5):c.1236G>A (p.Thr412=) rs376823275 0.00045
NM_001029883.3(PCARE):c.1297C>T (p.Pro433Ser) rs200696965 0.00044
NM_005548.3(KARS1):c.274G>C (p.Glu92Gln) rs11557669 0.00044
NM_014208.3(DSPP):c.2455G>A (p.Asp819Asn) rs371825362 0.00044
NM_001457.4(FLNB):c.1196A>G (p.Lys399Arg) rs145673747 0.00043
NM_002890.3(RASA1):c.1583A>G (p.Tyr528Cys) rs145752649 0.00043
NM_014365.3(HSPB8):c.432-16C>T rs183447670 0.00043
NM_021625.5(TRPV4):c.152C>T (p.Pro51Leu) rs115861965 0.00043
NM_023110.3(FGFR1):c.320C>T (p.Ser107Leu) rs140382957 0.00043
NM_000138.5(FBN1):c.2148A>G (p.Gly716=) rs141039922 0.00042
NM_000891.3(KCNJ2):c.1200G>A (p.Thr400=) rs201253055 0.00042
NM_001999.4(FBN2):c.7012+7G>A rs199735209 0.00042
NR_003051.4(RMRP):n.141A>G rs578091934 0.00042
NM_000144.5(FXN):c.118C>T (p.Arg40Cys) rs145854903 0.00041
NM_000326.5(RLBP1):c.795+15C>T rs181863443 0.00041
NM_000337.6(SGCD):c.543T>G (p.Pro181=) rs200451694 0.00041
NM_001374353.1(GLI2):c.3672G>A (p.Met1224Ile) rs138191075 0.00041
NM_001999.4(FBN2):c.1435G>A (p.Gly479Arg) rs147346327 0.00041
NM_002180.3(IGHMBP2):c.2026G>A (p.Gly676Arg) rs149577588 0.00041
NM_005428.4(VAV1):c.2161A>T (p.Met721Leu) rs149330066 0.00041
NM_000038.6(APC):c.2805C>T (p.Tyr935=) rs137854575 0.00040
NM_000093.5(COL5A1):c.126C>T (p.Leu42=) rs149369116 0.00040
NM_000169.3(GLA):c.427G>A (p.Ala143Thr) rs104894845 0.00039
NM_001084.5(PLOD3):c.129T>C (p.Thr43=) rs138623639 0.00039
NM_001243133.2(NLRP3):c.1032G>A (p.Leu344=) rs180177471 0.00039
NM_003126.4(SPTA1):c.2608G>A (p.Val870Met) rs140291959 0.00039
NM_005902.4(SMAD3):c.66G>A (p.Glu22=) rs187952791 0.00039
NM_000138.5(FBN1):c.2895G>A (p.Glu965=) rs140591 0.00038
NM_006736.6(DNAJB2):c.703C>G (p.Gln235Glu) rs148615702 0.00038
NM_014249.4(NR2E3):c.119-2A>C rs2723341 0.00038
NM_000637.5(GSR):c.697C>T (p.Arg233Cys) rs145851500 0.00037
NM_001042492.3(NF1):c.731-6A>C rs369366499 0.00037
NM_001267550.2(TTN):c.16546G>T (p.Asp5516Tyr) rs72648940 0.00037
NM_032415.7(CARD11):c.3145-14C>T rs201827805 0.00037
NM_000051.4(ATM):c.6808-22C>A rs3218700 0.00036
NM_000719.7(CACNA1C):c.5639G>A (p.Arg1880Gln) rs182208896 0.00036
NM_004444.5(EPHB4):c.1384G>A (p.Gly462Arg) rs146674844 0.00036
NM_024334.3(TMEM43):c.777C>T (p.His259=) rs143958148 0.00036
NM_194248.3(OTOF):c.5292-9C>T rs372713647 0.00036
NM_000059.4(BRCA2):c.9924C>T (p.Tyr3308=) rs4987049 0.00035
NM_000243.3(MEFV):c.1260+10C>T rs104895137 0.00035
NM_000435.3(NOTCH3):c.5200-4C>A rs375036447 0.00035
NM_000455.5(STK11):c.1284G>A (p.Ser428=) rs369097329 0.00035
NM_001009944.3(PKD1):c.4810G>A (p.Val1604Met) rs191685707 0.00035
NM_022124.6(CDH23):c.3178C>T (p.Arg1060Trp) rs201536811 0.00035
NM_022124.6(CDH23):c.7468G>A (p.Glu2490Lys) rs41281336 0.00035
NM_032119.4(ADGRV1):c.5295C>G (p.Phe1765Leu) rs201388114 0.00035
NM_000093.5(COL5A1):c.4683A>C (p.Gly1561=) rs149959668 0.00034
NM_000138.5(FBN1):c.5964C>T (p.Thr1988=) rs113022801 0.00034
NM_000243.3(MEFV):c.2292G>T (p.Gly764=) rs142352887 0.00034
NM_001034853.2(RPGR):c.141T>G (p.Ser47=) rs62638631 0.00034
NM_003978.5(PSTPIP1):c.418-6C>A rs200018722 0.00034
NM_053025.4(MYLK):c.5238+22A>T rs139889311 0.00034
NM_147127.5(EVC2):c.1882G>A (p.Glu628Lys) rs186197620 0.00034
NM_001457.4(FLNB):c.3981G>A (p.Gln1327=) rs201441533 0.00033
NM_005751.5(AKAP9):c.9214-6T>C rs377532409 0.00033
NM_030777.4(SLC2A10):c.1289-6C>T rs199967429 0.00033
NM_000038.6(APC):c.2232T>G (p.Ser744=) rs145751759 0.00032
NM_000260.4(MYO7A):c.4281G>A (p.Thr1427=) rs185607254 0.00032
NM_000441.2(SLC26A4):c.1614+8C>T rs370184422 0.00032
NM_001267550.2(TTN):c.68864G>C (p.Gly22955Ala) rs201381085 0.00032
NM_005422.4(TECTA):c.5836T>C (p.Tyr1946His) rs144343770 0.00032
NM_016247.4(IMPG2):c.1223C>T (p.Thr408Met) rs148056371 0.00032
NM_000059.4(BRCA2):c.5785A>G (p.Ile1929Val) rs79538375 0.00031
NM_000350.3(ABCA4):c.5461-10T>C rs1800728 0.00031
NM_000435.3(NOTCH3):c.6632A>G (p.Tyr2211Cys) rs369813654 0.00031
NM_000520.6(HEXA):c.8G>C (p.Ser3Thr) rs374524755 0.00031
NM_001267550.2(TTN):c.78855T>C (p.Asp26285=) rs139953862 0.00031
NM_002706.6(PPM1B):c.481C>G (p.Gln161Glu) rs34745955 0.00031
NM_004086.3(COCH):c.272G>A (p.Arg91Gln) rs188283330 0.00031
NM_000368.5(TSC1):c.1977G>A (p.Ala659=) rs35958226 0.00030
NM_001377.3(DYNC2H1):c.8365T>C (p.Phe2789Leu) rs184910011 0.00030
NM_014391.3(ANKRD1):c.368C>T (p.Thr123Met) rs145387010 0.00030
NM_025132.4(WDR19):c.929A>G (p.Tyr310Cys) rs199783864 0.00030
NM_153676.4(USH1C):c.1858C>T (p.Arg620Cys) rs143160805 0.00030
NM_000155.4(GALT):c.*8G>A rs370285476 0.00029
NM_000155.4(GALT):c.498T>C (p.Pro166=) rs193922249 0.00029
NM_001040151.2(SCN3B):c.328G>A (p.Val110Ile) rs147205617 0.00029
NM_001395413.1(POR):c.1512C>T (p.Gly504=) rs370823127 0.00029
NM_001999.4(FBN2):c.6946A>T (p.Ile2316Phe) rs201220519 0.00029
NM_020297.4(ABCC9):c.1557G>A (p.Glu519=) rs143346402 0.00029
NM_021625.5(TRPV4):c.2043C>T (p.Gly681=) rs375633647 0.00029
NM_000038.6(APC):c.3511C>T (p.Arg1171Cys) rs201830995 0.00028
NM_001031834.1(RAB40AL):c.660C>G (p.Ser220Arg) rs148863690 0.00028
NM_001267550.2(TTN):c.21993T>C (p.Pro7331=) rs373223049 0.00028
NM_001267550.2(TTN):c.4359A>T (p.Arg1453Ser) rs376857956 0.00028
NM_001386125.1(OBSCN):c.10654G>A (p.Asp3552Asn) rs201332233 0.00028
NC_000016.10:g.177596T>G rs930009344 0.00027
NM_000090.4(COL3A1):c.3133G>A (p.Ala1045Thr) rs149722210 0.00027
NM_000059.4(BRCA2):c.2208A>G (p.Ala736=) rs144984153 0.00026
NM_000059.4(BRCA2):c.6853A>G (p.Ile2285Val) rs56272235 0.00026
NM_000297.4(PKD2):c.595+15C>T rs559555727 0.00026
NM_000393.5(COL5A2):c.2963C>T (p.Thr988Met) rs369072636 0.00026
NM_001235.5(SERPINH1):c.1119C>T (p.Arg373=) rs375913094 0.00026
NM_001267550.2(TTN):c.14535C>T (p.Asp4845=) rs184307461 0.00026
NM_001267550.2(TTN):c.26849A>G (p.Tyr8950Cys) rs199557654 0.00026
NM_001267550.2(TTN):c.47513G>A (p.Arg15838Gln) rs199640194 0.00026
NM_001377.3(DYNC2H1):c.4916C>A (p.Thr1639Lys) rs200239560 0.00026
NM_001999.4(FBN2):c.2249-19A>G rs193091226 0.00026
NM_004612.4(TGFBR1):c.528G>A (p.Thr176=) rs190878719 0.00026
NM_213655.5(WNK1):c.2939G>T (p.Ser980Ile) rs372091476 0.00026
NM_000256.3(MYBPC3):c.961G>A (p.Val321Met) rs200119454 0.00025
NM_000492.4(CFTR):c.846A>T (p.Glu282Asp) rs142864834 0.00025
NM_001243133.2(NLRP3):c.937A>G (p.Ile313Val) rs180177501 0.00025
NM_001852.4(COL9A2):c.1400A>G (p.Gln467Arg) rs373264436 0.00025
NM_000138.5(FBN1):c.2678-12T>C rs200368037 0.00024
NM_000387.6(SLC25A20):c.358T>C (p.Ser120Pro) rs149174359 0.00024
NM_000518.5(HBB):c.316-45G>C rs140033163 0.00024
NM_001142864.4(PIEZO1):c.6154G>A (p.Val2052Ile) rs564395221 0.00024
NM_001365951.3(KIF1B):c.1771G>A (p.Gly591Arg) rs145266399 0.00024
NM_001377.3(DYNC2H1):c.5642G>A (p.Arg1881Lys) rs199541807 0.00024
NM_001457.4(FLNB):c.3594G>A (p.Thr1198=) rs143566075 0.00024
NM_001844.5(COL2A1):c.1581+16G>A rs182598943 0.00024
NM_003126.4(SPTA1):c.7183T>C (p.Tyr2395His) rs144692310 0.00024
NM_004006.3(DMD):c.9165G>A (p.Thr3055=) rs137905486 0.00024
NM_014874.4(MFN2):c.1101G>C (p.Gln367His) rs373211062 0.00024
NM_020975.6(RET):c.2088G>A (p.Ser696=) rs150329150 0.00024
NM_000090.4(COL3A1):c.1815+5G>A rs146652498 0.00023
NM_001110556.2(FLNA):c.237G>C (p.Ala79=) rs200626788 0.00023
NM_005529.7(HSPG2):c.4971C>T (p.Tyr1657=) rs138459752 0.00023
NM_007294.4(BRCA1):c.1486C>T (p.Arg496Cys) rs28897676 0.00023
NM_000059.4(BRCA2):c.467A>G (p.Asp156Gly) rs68071147 0.00022
NM_000238.4(KCNH2):c.2941A>G (p.Ser981Gly) rs76649554 0.00022
NM_000518.5(HBB):c.246C>A (p.Leu82=) rs145669504 0.00022
NM_000518.5(HBB):c.294C>T (p.His98=) rs34515413 0.00022
NM_001114753.3(ENG):c.-120G>T rs565259710 0.00022
NM_001267550.2(TTN):c.87448A>T (p.Ile29150Leu) rs189030321 0.00022
NM_001377.3(DYNC2H1):c.12068G>A (p.Arg4023Lys) rs771264933 0.00022
NM_004006.3(DMD):c.3951G>A (p.Glu1317=) rs199643655 0.00022
NM_005529.7(HSPG2):c.283G>C (p.Glu95Gln) rs145704241 0.00022
NM_022489.4(INF2):c.3563C>T (p.Ser1188Phe) rs201715539 0.00022
NM_024422.6(DSC2):c.854T>C (p.Ile285Thr) rs199918720 0.00022
NM_032119.4(ADGRV1):c.12982G>A (p.Glu4328Lys) rs182452385 0.00022
NM_147127.5(EVC2):c.3702A>G (p.Ile1234Met) rs375566943 0.00022
NM_000059.4(BRCA2):c.5312G>A (p.Gly1771Asp) rs80358755 0.00021
NM_000059.4(BRCA2):c.8154T>C (p.Ile2718=) rs148880015 0.00021
NM_000090.4(COL3A1):c.1977+9C>T rs184223621 0.00021
NM_000138.5(FBN1):c.1027G>A (p.Gly343Arg) rs146726731 0.00021
NM_000518.5(HBB):c.315+70G>C rs373152208 0.00021
NM_001142864.4(PIEZO1):c.1051C>T (p.Arg351Trp) rs959344565 0.00021
NM_001379610.1(SPINK1):c.195-21T>A rs377350168 0.00021
NM_012452.3(TNFRSF13B):c.236A>G (p.Tyr79Cys) rs72553876 0.00021
NM_201253.3(CRB1):c.1986A>G (p.Ser662=) rs115400822 0.00021
NM_001024630.4(RUNX2):c.254C>T (p.Ala85Val) rs372138746 0.00020
NM_002769.5(PRSS1):c.621T>C (p.Asn207=) rs146995038 0.00020
NM_006017.3(PROM1):c.456C>G (p.Pro152=) rs377209685 0.00020
NM_000138.5(FBN1):c.7852G>A (p.Gly2618Arg) rs141133182 0.00019
NM_000153.4(GALC):c.956A>G (p.Tyr319Cys) rs183105855 0.00019
NM_000251.3(MSH2):c.481G>A (p.Val161Ile) rs149511545 0.00019
NM_000260.4(MYO7A):c.1846C>T (p.Arg616Trp) rs369195493 0.00019
NM_000435.3(NOTCH3):c.2738C>T (p.Pro913Leu) rs370422650 0.00019
NM_000492.4(CFTR):c.31G>A (p.Val11Ile) rs1800072 0.00019
NM_001042492.3(NF1):c.60+35G>A rs749185009 0.00019
NM_001081.4(CUBN):c.6479A>G (p.Asp2160Gly) rs144704318 0.00019
NM_001355436.2(SPTB):c.1182+3A>G rs45556435 0.00019
NM_001386125.1(OBSCN):c.20021G>A (p.Ser6674Asn) rs376194851 0.00019
NM_001457.4(FLNB):c.2644G>C (p.Val882Leu) rs139124254 0.00019
NM_001457.4(FLNB):c.5769C>T (p.Ala1923=) rs201723447 0.00019
NM_001457.4(FLNB):c.7198+20C>G rs201580886 0.00019
NM_001844.5(COL2A1):c.4289C>T (p.Thr1430Met) rs147559634 0.00019
NM_002661.5(PLCG2):c.171C>T (p.Thr57=) rs374354863 0.00019
NM_002661.5(PLCG2):c.2211C>T (p.Pro737=) rs368933697 0.00019
NM_004239.4(TRIP11):c.3380C>T (p.Ala1127Val) rs191280213 0.00019
NM_005529.7(HSPG2):c.4078A>G (p.Asn1360Asp) rs145185113 0.00019
NM_005529.7(HSPG2):c.8554G>A (p.Gly2852Arg) rs199942544 0.00019
NM_006017.3(PROM1):c.524A>G (p.Tyr175Cys) rs144688616 0.00019
NM_006231.4(POLE):c.6532-19G>T rs201114228 0.00019
NM_007294.4(BRCA1):c.1789G>A (p.Glu597Lys) rs55650082 0.00019
NM_000038.6(APC):c.3374T>C (p.Val1125Ala) rs377278397 0.00018
NM_000368.5(TSC1):c.3184C>T (p.Arg1062Trp) rs118203745 0.00018
NM_000431.4(MVK):c.803T>C (p.Ile268Thr) rs104895304 0.00018
NM_001009944.3(PKD1):c.10619G>C (p.Gly3540Ala) rs201409107 0.00018
NM_001029883.3(PCARE):c.3044C>A (p.Ser1015Tyr) rs202196567 0.00018
NM_001384140.1(PCDH15):c.2424G>C (p.Lys808Asn) rs375855445 0.00018
NM_001457.4(FLNB):c.4390+8T>A rs377095569 0.00018
NM_002769.5(PRSS1):c.453C>T (p.Gly151=) rs147765409 0.00018
NM_005428.4(VAV1):c.1536C>T (p.Thr512=) rs200254050 0.00018
NM_007294.4(BRCA1):c.5406+33A>T rs80358092 0.00018
NM_182961.4(SYNE1):c.15863G>C (p.Gly5288Ala) rs201313856 0.00018
NM_000059.4(BRCA2):c.10203G>A (p.Thr3401=) rs147854265 0.00017
NM_000138.5(FBN1):c.6342A>C (p.Gly2114=) rs374705586 0.00017
NM_000350.3(ABCA4):c.1622T>C (p.Leu541Pro) rs61751392 0.00017
NM_000441.2(SLC26A4):c.349C>T (p.Leu117Phe) rs145254330 0.00017
NM_001267550.2(TTN):c.65575+10T>C rs72646864 0.00017
NM_004004.6(GJB2):c.94C>T (p.Arg32Cys) rs371024165 0.00017
NM_153700.2(STRC):c.4466A>C (p.Glu1489Ala) rs200009157 0.00017
NM_181882.3(PRX):c.3549C>T (p.Tyr1183=) rs367876251 0.00017
NM_000038.6(APC):c.6669A>G (p.Ser2223=) rs372680843 0.00016
NM_000059.4(BRCA2):c.9649-20C>T rs56177715 0.00016
NM_000091.5(COL4A3):c.2083G>A (p.Gly695Arg) rs200287952 0.00016
NM_000243.3(MEFV):c.1016C>T (p.Ser339Phe) rs104895157 0.00016
NM_000314.8(PTEN):c.493-42A>G rs765083317 0.00016
NM_000316.3(PTH1R):c.357G>A (p.Pro119=) rs143692596 0.00016
NM_000492.4(CFTR):c.2502T>G (p.Phe834Leu) rs200735475 0.00016
NM_000492.4(CFTR):c.489+3A>G rs377729736 0.00016
NM_000548.5(TSC2):c.4493+17C>T rs45517345 0.00016
NM_001009944.3(PKD1):c.4809C>T (p.Ser1603=) rs146103326 0.00016
NM_001009944.3(PKD1):c.7993G>A (p.Ala2665Thr) rs764822533 0.00016
NM_001035.3(RYR2):c.8592A>G (p.Gly2864=) rs763801208 0.00016
NM_001040151.2(SCN3B):c.583G>A (p.Ala195Thr) rs375755770 0.00016
NM_001360016.2(G6PD):c.1152G>C (p.Gln384His) rs368832453 0.00016
NM_001370259.2(MEN1):c.1080C>T (p.Ile360=) rs147331514 0.00016
NM_001386125.1(OBSCN):c.2050T>C (p.Phe684Leu) rs371434948 0.00016
NM_002230.4(JUP):c.2178C>T (p.Ile726=) rs141295561 0.00016
NM_002769.5(PRSS1):c.40+13C>T rs368872847 0.00016
NM_002972.4(SBF1):c.4007A>G (p.Asn1336Ser) rs775736052 0.00016
NM_004004.6(GJB2):c.355G>A (p.Glu119Lys) rs150529554 0.00016
NM_004006.3(DMD):c.5701G>A (p.Ala1901Thr) rs201302282 0.00016
NM_004304.5(ALK):c.2149G>A (p.Glu717Lys) rs147858673 0.00016
NM_005591.4(MRE11):c.1726C>G (p.Arg576Gly) rs774277300 0.00016
NM_018706.7(DHTKD1):c.1364G>A (p.Arg455Gln) rs142068634 0.00016
NM_024577.4(SH3TC2):c.2954A>G (p.Glu985Gly) rs575937427 0.00016
NM_174878.3(CLRN1):c.144T>G (p.Asn48Lys) rs111033258 0.00016
NM_000033.4(ABCD1):c.901-5C>T rs782603062 0.00015
NM_000492.4(CFTR):c.360G>A (p.Ala120=) rs1800077 0.00015
NM_000548.5(TSC2):c.4809C>T (p.Asp1603=) rs147578602 0.00015
NM_001084.5(PLOD3):c.503-9C>T rs368123704 0.00015
NM_001267550.2(TTN):c.98959T>C (p.Ser32987Pro) rs758494581 0.00015
NM_001267550.2(TTN):c.98960C>T (p.Ser32987Phe) rs746380940 0.00015
NM_001358263.1(HK1):c.28-3329G>A rs192516988 0.00015
NM_001457.4(FLNB):c.2095C>T (p.Arg699Trp) rs200554477 0.00015
NM_004004.6(GJB2):c.670A>C (p.Lys224Gln) rs111033194 0.00015
NM_020631.6(PLEKHG5):c.1616C>T (p.Ala539Val) rs370515061 0.00015
NM_144997.7(FLCN):c.1332C>T (p.Ala444=) rs141283741 0.00015
NM_000138.5(FBN1):c.6288C>T (p.Cys2096=) rs144822241 0.00014
NM_000142.5(FGFR3):c.2169-13G>A rs370060233 0.00014
NM_000155.4(GALT):c.1132A>G (p.Ile378Val) rs111033819 0.00014
NM_000179.3(MSH6):c.2398G>C (p.Val800Leu) rs61748083 0.00014
NM_001042492.3(NF1):c.3708+19C>T rs371590712 0.00014
NM_001148.6(ANK2):c.5457G>A (p.Ala1819=) rs138113206 0.00014
NM_001267550.2(TTN):c.99340T>C (p.Leu33114=) rs371656672 0.00014
NM_002148.4(HOXD10):c.130G>A (p.Gly44Arg) rs145541578 0.00014
NM_003978.5(PSTPIP1):c.1115C>T (p.Ala372Val) rs200188483 0.00014
NM_004006.3(DMD):c.7151C>A (p.Ser2384Tyr) rs185706283 0.00014
NM_004415.4(DSP):c.521G>T (p.Cys174Phe) rs377507763 0.00014
NM_015046.7(SETX):c.390C>T (p.Asn130=) rs138363625 0.00014
NM_016169.4(SUFU):c.839G>A (p.Arg280Gln) rs145704867 0.00014
NM_033100.4(CDHR1):c.1445C>T (p.Pro482Leu) rs375576650 0.00014
NM_053025.4(MYLK):c.2919G>A (p.Pro973=) rs149482336 0.00014
NM_153717.3(EVC):c.1777G>A (p.Val593Met) rs150535483 0.00014
NM_000093.5(COL5A1):c.1476C>T (p.Val492=) rs141093527 0.00013
NM_000302.4(PLOD1):c.303C>T (p.Ser101=) rs147980436 0.00013
NM_000435.3(NOTCH3):c.6061G>A (p.Val2021Met) rs199620476 0.00013
NM_000558.5(HBA1):c.198G>A (p.Ala66=) rs772025927 0.00013
NM_001009944.3(PKD1):c.4835C>T (p.Thr1612Met) rs767665300 0.00013
NM_001256317.3(TMPRSS3):c.47G>A (p.Arg16Gln) rs369418733 0.00013
NM_001267550.2(TTN):c.38875+20G>T rs773913022 0.00013
NM_001365536.1(SCN9A):c.1675G>A (p.Gly559Ser) rs201569378 0.00013
NM_001386125.1(OBSCN):c.3185C>T (p.Ser1062Phe) rs200058427 0.00013
NM_002109.6(HARS1):c.679T>G (p.Ser227Ala) rs768076848 0.00013
NM_002529.4(NTRK1):c.1747C>T (p.Arg583Cys) rs371344688 0.00013
NM_004006.3(DMD):c.8255A>G (p.Tyr2752Cys) rs373832446 0.00013
NM_004281.4(BAG3):c.1029C>A (p.Arg343=) rs117972572 0.00013
NM_005529.7(HSPG2):c.10721-8C>T rs371225050 0.00013
NM_005529.7(HSPG2):c.7107T>C (p.His2369=) rs150126997 0.00013
NM_012434.5(SLC17A5):c.918T>G (p.Tyr306Ter) rs201284672 0.00013
NM_016239.4(MYO15A):c.10054G>A (p.Ala3352Thr) rs367863299 0.00013
NM_019844.4(SLCO1B3):c.404C>T (p.Ser135Leu) rs150039066 0.00013
NM_020631.6(PLEKHG5):c.1738G>A (p.Glu580Lys) rs760122001 0.00013
NM_022367.4(SEMA4A):c.1694-13C>G rs144540956 0.00013
NM_033056.4(PCDH15):c.4892C>A (p.Ala1631Glu) rs56332160 0.00013
NM_000059.4(BRCA2):c.2919G>A (p.Ser973=) rs45525041 0.00012
NM_000074.3(CD40LG):c.38C>T (p.Ala13Val) rs368003929 0.00012
NM_000093.5(COL5A1):c.850G>A (p.Glu284Lys) rs75648697 0.00012
NM_000492.4(CFTR):c.4092G>A (p.Ala1364=) rs148878126 0.00012
NM_000520.6(HEXA):c.1178G>A (p.Arg393Gln) rs370266293 0.00012
NM_000528.4(MAN2B1):c.2161G>A (p.Val721Met) rs148134639 0.00012
NM_000548.5(TSC2):c.4493+16C>G rs45491597 0.00012
NM_000883.4(IMPDH1):c.377T>C (p.Phe126Ser) rs367549284 0.00012
NM_001042492.3(NF1):c.5049C>T (p.Asn1683=) rs140994965 0.00012
NM_001159773.2(CANT1):c.632-15A>C rs186671535 0.00012
NM_001267550.2(TTN):c.1066G>C (p.Glu356Gln) rs144531477 0.00012
NM_001267550.2(TTN):c.73303C>T (p.Arg24435Cys) rs200028088 0.00012
NM_001457.4(FLNB):c.1640C>T (p.Ala547Val) rs200619215 0.00012
NM_002769.5(PRSS1):c.390C>T (p.Thr130=) rs561097415 0.00012
NM_004004.6(GJB2):c.120A>C (p.Ala40=) rs561870637 0.00012
NM_007294.4(BRCA1):c.2315T>C (p.Val772Ala) rs80357467 0.00012
NM_007294.4(BRCA1):c.670+26C>G rs368134697 0.00012
NM_012452.3(TNFRSF13B):c.512T>G (p.Leu171Arg) rs143027621 0.00012
NM_018979.4(WNK1):c.2664A>G (p.Val888=) rs769020140 0.00012
NM_182961.4(SYNE1):c.16901T>C (p.Met5634Thr) rs138509817 0.00012
NM_000033.4(ABCD1):c.50G>A (p.Arg17His) rs782693577 0.00011
NM_000059.4(BRCA2):c.9501+9A>C rs81002867 0.00011
NM_000243.3(MEFV):c.1458C>T (p.Asp486=) rs147767925 0.00011
NM_000243.3(MEFV):c.800C>T (p.Thr267Ile) rs104895081 0.00011
NM_000455.5(STK11):c.825G>A (p.Pro275=) rs202011521 0.00011
NM_000492.4(CFTR):c.3415A>G (p.Ile1139Val) rs397508556 0.00011
NM_000520.6(HEXA):c.836C>G (p.Ser279Cys) rs148199798 0.00011
NM_001003800.2(BICD2):c.1438G>A (p.Ala480Thr) rs140188204 0.00011
NM_001065.4(TNFRSF1A):c.1328G>T (p.Gly443Val) rs201062001 0.00011
NM_001110556.2(FLNA):c.1828+3A>G rs368041880 0.00011
NM_001142864.4(PIEZO1):c.5068C>T (p.Leu1690Phe) rs992621550 0.00011
NM_001145809.2(MYH14):c.266T>C (p.Leu89Pro) rs988356194 0.00011
NM_001244008.2(KIF1A):c.4498G>C (p.Glu1500Gln) rs376432305 0.00011
NM_001256317.3(TMPRSS3):c.280G>A (p.Gly94Arg) rs143762350 0.00011
NM_001267550.2(TTN):c.56693G>A (p.Arg18898His) rs572453785 0.00011
NM_001355436.2(SPTB):c.5467G>A (p.Asp1823Asn) rs200508249 0.00011
NM_001370466.1(NOD2):c.2382-9T>A rs201759367 0.00011
NM_002769.5(PRSS1):c.243G>C (p.Leu81=) rs142476093 0.00011
NM_002834.5(PTPN11):c.558G>T (p.Arg186=) rs200920312 0.00011
NM_003954.5(MAP3K14):c.1455C>T (p.Gly485=) rs549438131 0.00011
NM_007294.4(BRCA1):c.3823A>G (p.Ile1275Val) rs80357280 0.00011
NM_007294.4(BRCA1):c.441+18C>T rs371973519 0.00011
NM_014845.6(FIG4):c.1863C>A (p.Thr621=) rs201744761 0.00011
NM_018319.4(TDP1):c.1342C>T (p.Arg448Trp) rs141725364 0.00011
NM_020779.4(WDR35):c.2164C>T (p.Arg722Cys) rs374073530 0.00011
NM_080680.3(COL11A2):c.1208C>T (p.Pro403Leu) rs201179101 0.00011
NM_182961.4(SYNE1):c.8005-3C>T rs117084693 0.00011
NM_000155.4(GALT):c.864C>T (p.Asn288=) rs372134800 0.00010
NM_000243.3(MEFV):c.1043G>A (p.Arg348His) rs104895198 0.00010
NM_000256.3(MYBPC3):c.1504C>T (p.Arg502Trp) rs375882485 0.00010
NM_000314.8(PTEN):c.253+66A>G rs377719086 0.00010
NM_000335.5(SCN5A):c.4299T>C (p.Tyr1433=) rs200556220 0.00010
NM_000368.5(TSC1):c.3303G>A (p.Glu1101=) rs118203751 0.00010
NM_000371.4(TTR):c.140A>G (p.Asn47Ser) rs145551875 0.00010
NM_000441.2(SLC26A4):c.796G>A (p.Asp266Asn) rs138462416 0.00010
NM_000492.4(CFTR):c.2557A>G (p.Ile853Val) rs780187979 0.00010
NM_000517.6(HBA2):c.375C>G (p.Ser125=) rs775058691 0.00010
NM_000517.6(HBA2):c.95+36C>T rs1455019991 0.00010
NM_000535.7(PMS2):c.379G>A (p.Ala127Thr) rs114090343 0.00010
NM_001009944.3(PKD1):c.10042C>T (p.Arg3348Trp) rs769208706 0.00010
NM_001042492.3(NF1):c.2252-34T>C rs200937398 0.00010
NM_001110556.2(FLNA):c.3708C>T (p.Gly1236=) rs200363918 0.00010
NM_001110556.2(FLNA):c.6612C>T (p.Pro2204=) rs375499070 0.00010
NM_001110792.2(MECP2):c.204C>T (p.Pro68=) rs61754435 0.00010
NM_001142864.4(PIEZO1):c.6705C>T (p.Phe2235=) rs747798306 0.00010
NM_001148.6(ANK2):c.3074G>C (p.Gly1025Ala) rs773532854 0.00010
NM_001365088.1(SLC12A6):c.221C>A (p.Ala74Glu) rs373526599 0.00010
NM_001370466.1(NOD2):c.1608C>T (p.Tyr536=) rs111608429 0.00010
NM_001386125.1(OBSCN):c.12134C>T (p.Ser4045Leu) rs779979102 0.00010
NM_002878.4(RAD51D):c.137C>G (p.Ser46Cys) rs587780102 0.00010
NM_003126.4(SPTA1):c.1672G>A (p.Asp558Asn) rs200529208 0.00010
NM_003242.6(TGFBR2):c.367A>T (p.Met123Leu) rs768385200 0.00010
NM_004006.3(DMD):c.6414T>C (p.His2138=) rs753999355 0.00010
NM_005529.7(HSPG2):c.5815G>A (p.Ala1939Thr) rs145474376 0.00010
NM_007294.4(BRCA1):c.4185+30G>A rs80358139 0.00010
NM_007294.4(BRCA1):c.4185+40T>G rs781561618 0.00010
NM_053025.4(MYLK):c.4882G>A (p.Val1628Met) rs76655666 0.00010
NM_133379.5(TTN):c.16394G>A (p.Arg5465Gln) rs148147002 0.00010
NM_138691.3(TMC1):c.2230C>T (p.Arg744Ter) rs150738413 0.00010
NM_194248.3(OTOF):c.1732G>C (p.Val578Leu) rs144907002 0.00010
NM_000053.4(ATP7B):c.1829C>T (p.Pro610Leu) rs368381292 0.00009
NM_000059.4(BRCA2):c.*14C>T rs373436334 0.00009
NM_000059.4(BRCA2):c.4614T>C (p.Ser1538=) rs45520945 0.00009
NM_000059.4(BRCA2):c.4656T>C (p.Gly1552=) rs41293491 0.00009
NM_000059.4(BRCA2):c.7435+23A>G rs761412178 0.00009
NM_000090.4(COL3A1):c.2498A>G (p.Lys833Arg) rs371344739 0.00009
NM_000178.4(GSS):c.911C>T (p.Thr304Ile) rs374498290 0.00009
NM_000243.3(MEFV):c.198C>T (p.Ala66=) rs149380763 0.00009
NM_000335.5(SCN5A):c.3951G>A (p.Glu1317=) rs769473892 0.00009
NM_000335.5(SCN5A):c.4783T>A (p.Phe1595Ile) rs199473278 0.00009
NM_000492.4(CFTR):c.1000C>T (p.Arg334Trp) rs121909011 0.00009
NM_000492.4(CFTR):c.3140-33A>G rs373016758 0.00009
NM_001009944.3(PKD1):c.10872G>A (p.Pro3624=) rs201417193 0.00009
NM_001042492.3(NF1):c.4836-3T>C rs372460369 0.00009
NM_001042492.3(NF1):c.7739-33G>A rs199706010 0.00009
NM_001079802.2(FKTN):c.1172+13T>C rs768792475 0.00009
NM_001145809.2(MYH14):c.2651A>G (p.Tyr884Cys) rs373457292 0.00009
NM_001145809.2(MYH14):c.4156A>T (p.Thr1386Ser) rs377462520 0.00009
NM_001148.6(ANK2):c.1136G>T (p.Arg379Leu) rs186264035 0.00009
NM_001355436.2(SPTB):c.6313T>G (p.Ser2105Ala) rs749123042 0.00009
NM_001365536.1(SCN9A):c.5711G>A (p.Arg1904His) rs79805025 0.00009
NM_001374353.1(GLI2):c.4402C>G (p.Pro1468Ala) rs145958673 0.00009
NM_002529.4(NTRK1):c.575-16C>T rs143312136 0.00009
NM_004360.5(CDH1):c.1996A>C (p.Asn666His) rs150427791 0.00009
NM_005529.7(HSPG2):c.11206C>T (p.Arg3736Trp) rs114342311 0.00009
NM_012452.3(TNFRSF13B):c.577T>C (p.Cys193Arg) rs764125338 0.00009
NM_014365.3(HSPB8):c.512T>C (p.Val171Ala) rs878854979 0.00009
NM_016203.4(PRKAG2):c.455G>A (p.Arg152His) rs765374050 0.00009
NM_016938.5(EFEMP2):c.882C>T (p.Cys294=) rs371712739 0.00009
NM_017433.5(MYO3A):c.315del (p.Gly106fs) rs777580042 0.00009
NM_022489.4(INF2):c.1499C>T (p.Pro500Leu) rs561201601 0.00009
NM_024577.4(SH3TC2):c.549C>T (p.Ala183=) rs147013935 0.00009
NM_024675.4(PALB2):c.12T>C (p.Pro4=) rs567706422 0.00009
NM_025114.4(CEP290):c.4723A>T (p.Lys1575Ter) rs137852834 0.00009
NM_053025.4(MYLK):c.3749G>A (p.Arg1250His) rs139817477 0.00009
NM_170707.4(LMNA):c.976T>A (p.Ser326Thr) rs56851164 0.00009
NM_182961.4(SYNE1):c.20182C>T (p.Arg6728Cys) rs150063353 0.00009
NM_000038.6(APC):c.721G>A (p.Glu241Lys) rs777603154 0.00008
NM_000179.3(MSH6):c.2281A>G (p.Arg761Gly) rs199876321 0.00008
NM_000402.4(G6PD):c.770G>A (p.Arg257Gln) rs137852328 0.00008
NM_000637.5(GSR):c.878C>G (p.Ser293Cys) rs762024253 0.00008
NM_001081.4(CUBN):c.6613G>A (p.Gly2205Arg) rs140883483 0.00008
NM_001360016.2(G6PD):c.1405C>T (p.Leu469=) rs369482861 0.00008
NM_004006.3(DMD):c.1724T>C (p.Leu575Pro) rs370644567 0.00008
NM_007294.4(BRCA1):c.987T>C (p.Asn329=) rs774849810 0.00008
NM_007373.4(SHOC2):c.74A>G (p.Glu25Gly) rs730881019 0.00008
NM_014000.3(VCL):c.1621C>G (p.Leu541Val) rs370229150 0.00008
NM_015046.7(SETX):c.1221A>G (p.Thr407=) rs377618570 0.00008
NM_024422.6(DSC2):c.4G>A (p.Glu2Lys) rs762556795 0.00008
NM_030662.4(MAP2K2):c.853G>A (p.Asp285Asn) rs150369301 0.00008
NM_053025.4(MYLK):c.3832-9C>T rs200022087 0.00008
NM_144596.4(TTC8):c.267C>A (p.Arg89=) rs200113889 0.00008
NM_153717.3(EVC):c.2895-4T>C rs775049818 0.00008
NM_170707.4(LMNA):c.471G>A (p.Thr157=) rs150645079 0.00008
NM_000018.4(ACADVL):c.63-31C>T rs372982295 0.00007
NM_000152.5(GAA):c.1504A>G (p.Met502Val) rs376067362 0.00007
NM_000243.3(MEFV):c.1996A>T (p.Ile666Phe) rs387907566 0.00007
NM_000492.4(CFTR):c.1054C>T (p.Arg352Trp) rs193922497 0.00007
NM_000517.6(HBA2):c.*98T>C rs1455865276 0.00007
NM_000541.5(SAG):c.944+5G>A rs374048703 0.00007
NM_001009944.3(PKD1):c.8305C>T (p.Leu2769Phe) rs771382752 0.00007
NM_001035.3(RYR2):c.10017C>T (p.His3339=) rs376439588 0.00007
NM_001035.3(RYR2):c.11766G>A (p.Glu3922=) rs774625105 0.00007
NM_001065.4(TNFRSF1A):c.334G>A (p.Val112Met) rs201753543 0.00007
NM_001243133.2(NLRP3):c.1665C>T (p.Asp555=) rs151097783 0.00007
NM_001365536.1(SCN9A):c.3944T>C (p.Ile1315Thr) rs202235611 0.00007
NM_001375808.2(LPIN2):c.2174+10C>T rs201227858 0.00007
NM_001457.4(FLNB):c.1216G>A (p.Val406Met) rs367842487 0.00007
NM_001999.4(FBN2):c.5447C>T (p.Pro1816Leu) rs149537608 0.00007
NM_004006.3(DMD):c.1704+3G>A rs773123973 0.00007
NM_004006.3(DMD):c.4862T>C (p.Ile1621Thr) rs377412251 0.00007
NM_004006.3(DMD):c.8053G>A (p.Glu2685Lys) rs748937055 0.00007
NM_005751.5(AKAP9):c.5284A>G (p.Lys1762Glu) rs568626378 0.00007
NM_007078.3(LDB3):c.1289C>A (p.Thr430Asn) rs746183666 0.00007
NM_007294.4(BRCA1):c.-19-10T>C rs201866997 0.00007
NM_007294.4(BRCA1):c.593+3G>A rs80358013 0.00007
NM_182961.4(SYNE1):c.20200-3T>C rs770710698 0.00007
NM_000053.4(ATP7B):c.352G>A (p.Asp118Asn) rs769655497 0.00006
NM_000059.4(BRCA2):c.1021T>C (p.Cys341Arg) rs55833327 0.00006
NM_000059.4(BRCA2):c.2025A>G (p.Thr675=) rs147381487 0.00006
NM_000059.4(BRCA2):c.2320A>G (p.Thr774Ala) rs55968715 0.00006
NM_000059.4(BRCA2):c.2490C>T (p.Asn830=) rs56331088 0.00006
NM_000059.4(BRCA2):c.2957A>G (p.Asn986Ser) rs28897718 0.00006
NM_000059.4(BRCA2):c.5498A>G (p.Asn1833Ser) rs587782601 0.00006
NM_000071.3(CBS):c.612G>C (p.Val204=) rs539670390 0.00006
NM_000077.5(CDKN2A):c.146T>C (p.Ile49Thr) rs199907548 0.00006
NM_000088.4(COL1A1):c.4005+5G>A rs778417218 0.00006
NM_000090.4(COL3A1):c.3061C>A (p.Leu1021Ile) rs139619440 0.00006
NM_000138.5(FBN1):c.1316G>A (p.Arg439Gln) rs568810058 0.00006
NM_000138.5(FBN1):c.3197G>C (p.Arg1066Thr) rs376659156 0.00006
NM_000138.5(FBN1):c.6577G>A (p.Glu2193Lys) rs201361628 0.00006
NM_000142.5(FGFR3):c.272C>T (p.Pro91Leu) rs144995231 0.00006
NM_000144.5(FXN):c.447G>A (p.Thr149=) rs151193551 0.00006
NM_000243.3(MEFV):c.2049G>A (p.Ser683=) rs104895092 0.00006
NM_000251.3(MSH2):c.1321A>C (p.Thr441Pro) rs587779086 0.00006
NM_000251.3(MSH2):c.382C>G (p.Leu128Val) rs145649774 0.00006
NM_000257.4(MYH7):c.2360G>A (p.Arg787His) rs376754645 0.00006
NM_000350.3(ABCA4):c.4610C>T (p.Thr1537Met) rs62642575 0.00006
NM_000435.3(NOTCH3):c.120C>G (p.Ala40=) rs146904189 0.00006
NM_000435.3(NOTCH3):c.2070A>G (p.Pro690=) rs370780913 0.00006
NM_000441.2(SLC26A4):c.1226G>A (p.Arg409His) rs111033305 0.00006
NM_000441.2(SLC26A4):c.1541A>G (p.Gln514Arg) rs111033316 0.00006
NM_000465.4(BARD1):c.722C>G (p.Ser241Cys) rs3738885 0.00006
NM_000492.4(CFTR):c.2604A>G (p.Val868=) rs1800105 0.00006
NM_000492.4(CFTR):c.2856G>C (p.Met952Ile) rs151048781 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.571T>G (p.Phe191Val) rs141482808 0.00006
NM_000492.4(CFTR):c.715G>A (p.Gly239Arg) rs397508788 0.00006
NM_000637.5(GSR):c.1565G>A (p.Arg522His) rs758486247 0.00006
NM_001009944.3(PKD1):c.10220+33G>A rs755957931 0.00006
NM_001009944.3(PKD1):c.4905G>A (p.Leu1635=) rs748967532 0.00006
NM_001009944.3(PKD1):c.5703C>T (p.Pro1901=) rs773475991 0.00006
NM_001009944.3(PKD1):c.7490-19C>T rs767603290 0.00006
NM_001009944.3(PKD1):c.7490-38C>T rs775658891 0.00006
NM_001018115.3(FANCD2):c.356G>A (p.Arg119His) rs566769898 0.00006
NM_001029883.3(PCARE):c.1114G>A (p.Asp372Asn) rs201284350 0.00006
NM_001142864.4(PIEZO1):c.5822C>T (p.Pro1941Leu) rs761049480 0.00006
NM_001145809.2(MYH14):c.3433C>T (p.Arg1145Trp) rs773117828 0.00006
NM_001184.4(ATR):c.1624A>G (p.Lys542Glu) rs200491706 0.00006
NM_001256012.3(MYH10):c.3321G>A (p.Ala1107=) rs556463800 0.00006
NM_001267550.2(TTN):c.104261C>T (p.Ala34754Val) rs727505020 0.00006
NM_001267550.2(TTN):c.52891G>A (p.Val17631Ile) rs749503285 0.00006
NM_001267550.2(TTN):c.84436G>A (p.Val28146Ile) rs371366196 0.00006
NM_001355436.2(SPTB):c.1791G>A (p.Gly597=) rs200814169 0.00006
NM_001360016.2(G6PD):c.1021G>A (p.Val341Ile) rs782174983 0.00006
NM_001365536.1(SCN9A):c.641G>A (p.Arg214Gln) rs201741634 0.00006
NM_001375808.2(LPIN2):c.1339G>A (p.Val447Met) rs373758040 0.00006
NM_001376.5(DYNC1H1):c.13072G>A (p.Ala4358Thr) rs547205132 0.00006
NM_001379610.1(SPINK1):c.110A>G (p.Asn37Ser) rs200142833 0.00006
NM_001943.5(DSG2):c.1652-1G>A rs1382430464 0.00006
NM_001943.5(DSG2):c.1847C>T (p.Ala616Val) rs375527314 0.00006
NM_001999.4(FBN2):c.5800+5G>A rs375487064 0.00006
NM_001999.4(FBN2):c.5855T>C (p.Val1952Ala) rs372879535 0.00006
NM_002109.6(HARS1):c.52G>A (p.Val18Met) rs774632798 0.00006
NM_002626.6(PFKL):c.175G>A (p.Val59Met) rs150271960 0.00006
NM_002661.5(PLCG2):c.2259C>T (p.Tyr753=) rs370847174 0.00006
NM_002907.4(RECQL):c.1285A>G (p.Met429Val) rs368679142 0.00006
NM_003126.4(SPTA1):c.3397C>T (p.Arg1133Trp) rs768966753 0.00006
NM_004415.4(DSP):c.7548G>A (p.Arg2516=) rs756527780 0.00006
NM_005422.4(TECTA):c.1621G>A (p.Val541Met) rs370652301 0.00006
NM_005422.4(TECTA):c.5861C>T (p.Thr1954Met) rs542600464 0.00006
NM_005529.7(HSPG2):c.2896G>A (p.Glu966Lys) rs142651007 0.00006
NM_005548.3(KARS1):c.222+3G>A rs767391172 0.00006
NM_005897.3(IPP):c.1411A>G (p.Met471Val) rs572992251 0.00006
NM_007294.4(BRCA1):c.3640G>A (p.Glu1214Lys) rs80356923 0.00006
NM_012330.4(KAT6B):c.4807G>A (p.Val1603Ile) rs142688976 0.00006
NM_013296.5(GPSM2):c.1062+1G>T rs777695770 0.00006
NM_016169.4(SUFU):c.1105G>A (p.Val369Ile) rs149449923 0.00006
NM_016579.4(CD320):c.344A>G (p.Asp115Gly) rs939686446 0.00006
NM_020320.5(RARS2):c.1492A>G (p.Ile498Val) rs200632524 0.00006
NM_020975.6(RET):c.1187C>T (p.Ser396Leu) rs781646869 0.00006
NM_025114.4(CEP290):c.4754A>G (p.His1585Arg) rs199826787 0.00006
NM_025114.4(CEP290):c.6477T>A (p.Thr2159=) rs556820066 0.00006
NM_032119.4(ADGRV1):c.1684G>T (p.Ala562Ser) rs199636312 0.00006
NM_144596.4(TTC8):c.579+44G>A rs537295982 0.00006
NM_153717.3(EVC):c.1692C>T (p.Asn564=) rs138242443 0.00006
NM_153717.3(EVC):c.940-150T>C rs576076928 0.00006
NM_182925.5(FLT4):c.2648-8C>T rs752689922 0.00006
NM_000018.4(ACADVL):c.1606-40G>A rs754515750 0.00005
NM_000053.4(ATP7B):c.2123T>C (p.Leu708Pro) rs121908000 0.00005
NM_000053.4(ATP7B):c.3182G>A (p.Gly1061Glu) rs764131178 0.00005
NM_000059.4(BRCA2):c.3539A>G (p.Lys1180Arg) rs28897720 0.00005
NM_000059.4(BRCA2):c.426-37T>A rs81002859 0.00005
NM_000059.4(BRCA2):c.5503A>G (p.Asn1835Asp) rs80358771 0.00005
NM_000059.4(BRCA2):c.5552T>G (p.Ile1851Ser) rs80358776 0.00005
NM_000059.4(BRCA2):c.5741G>C (p.Ser1914Thr) rs80358801 0.00005
NM_000059.4(BRCA2):c.5985C>T (p.Asn1995=) rs374620036 0.00005
NM_000059.4(BRCA2):c.7007+18T>A rs377471435 0.00005
NM_000059.4(BRCA2):c.7052C>G (p.Ala2351Gly) rs80358932 0.00005
NM_000059.4(BRCA2):c.9275A>G (p.Tyr3092Cys) rs80359195 0.00005
NM_000138.5(FBN1):c.8149G>A (p.Glu2717Lys) rs187553035 0.00005
NM_000151.4(G6PC1):c.113A>T (p.Asp38Val) rs104894565 0.00005
NM_000218.3(KCNQ1):c.1885G>A (p.Gly629Ser) rs775608046 0.00005
NM_000316.3(PTH1R):c.1255G>A (p.Val419Ile) rs758673796 0.00005
NM_000398.7(CYB5R3):c.137G>A (p.Arg46Gln) rs781605975 0.00005
NM_000431.4(MVK):c.1051C>T (p.Pro351Ser) rs773929129 0.00005
NM_000441.2(SLC26A4):c.706C>G (p.Leu236Val) rs111033242 0.00005
NM_000492.4(CFTR):c.2475C>T (p.Asn825=) rs746961486 0.00005
NM_000532.5(PCCB):c.683C>T (p.Pro228Leu) rs374722096 0.00005
NM_000922.4(PDE3B):c.409A>G (p.Thr137Ala) rs376962336 0.00005
NM_001029883.3(PCARE):c.2890G>A (p.Gly964Ser) rs371925633 0.00005
NM_001145809.2(MYH14):c.2458C>T (p.Arg820Cys) rs767984672 0.00005
NM_001244008.2(KIF1A):c.609-8C>T rs775915390 0.00005
NM_001267550.2(TTN):c.100257T>C (p.Asp33419=) rs727505046 0.00005
NM_001267550.2(TTN):c.14935+9C>T rs544241749 0.00005
NM_001267550.2(TTN):c.16302C>T (p.Ser5434=) rs370615208 0.00005
NM_001267550.2(TTN):c.23065G>A (p.Asp7689Asn) rs727505052 0.00005
NM_001267550.2(TTN):c.51739+14C>A rs727505018 0.00005
NM_001267550.2(TTN):c.59926C>T (p.His19976Tyr) rs727503588 0.00005
NM_001267550.2(TTN):c.67104A>C (p.Lys22368Asn) rs727503577 0.00005
NM_001267550.2(TTN):c.98866A>G (p.Met32956Val) rs727503538 0.00005
NM_001355436.2(SPTB):c.5090G>A (p.Arg1697Gln) rs199551302 0.00005
NM_001360.3(DHCR7):c.964-5C>T rs767108226 0.00005
NM_001972.4(ELANE):c.373G>A (p.Gly125Arg) rs377698556 0.00005
NM_002471.4(MYH6):c.1703G>A (p.Arg568His) rs376291577 0.00005
NM_004006.3(DMD):c.145C>T (p.Arg49Cys) rs147548697 0.00005
NM_004006.3(DMD):c.5288G>T (p.Arg1763Leu) rs398123982 0.00005
NM_004006.3(DMD):c.8609G>A (p.Arg2870Gln) rs373481995 0.00005
NM_004863.4(SPTLC2):c.1628G>A (p.Arg543Gln) rs763898397 0.00005
NM_005591.4(MRE11):c.1852A>G (p.Met618Val) rs375630981 0.00005
NM_015046.7(SETX):c.4225A>T (p.Asn1409Tyr) rs373375060 0.00005
NM_020919.4(ALS2):c.4495C>T (p.Arg1499Cys) rs112869526 0.00005
NM_144997.7(FLCN):c.779+10G>A rs376357696 0.00005
NM_194248.3(OTOF):c.5610C>T (p.Thr1870=) rs141119917 0.00005
NM_206933.4(USH2A):c.11390-10C>T rs750110818 0.00005
NM_000033.4(ABCD1):c.1865+11C>T rs781956636 0.00004
NM_000038.6(APC):c.6117G>T (p.Leu2039Phe) rs372418435 0.00004
NM_000038.6(APC):c.7594C>T (p.His2532Tyr) rs375080917 0.00004
NM_000038.6(APC):c.7786T>G (p.Ser2596Ala) rs138137162 0.00004
NM_000059.4(BRCA2):c.352C>T (p.Arg118Cys) rs375125172 0.00004
NM_000059.4(BRCA2):c.5303_5304del (p.Leu1768fs) rs80359505 0.00004
NM_000059.4(BRCA2):c.5869A>G (p.Ile1957Val) rs80358817 0.00004
NM_000059.4(BRCA2):c.6143A>T (p.Asn2048Ile) rs80358853 0.00004
NM_000059.4(BRCA2):c.67+40G>A rs371493518 0.00004
NM_000059.4(BRCA2):c.7522G>A (p.Gly2508Ser) rs80358978 0.00004
NM_000090.4(COL3A1):c.3607G>A (p.Ala1203Thr) rs550665335 0.00004
NM_000093.5(COL5A1):c.1307C>T (p.Ala436Val) rs144269434 0.00004
NM_000138.5(FBN1):c.1602T>C (p.Cys534=) rs377386372 0.00004
NM_000138.5(FBN1):c.4336+7G>T rs760603409 0.00004
NM_000142.5(FGFR3):c.2417C>T (p.Thr806Met) rs374547489 0.00004
NM_000179.3(MSH6):c.260+10T>G rs193922342 0.00004
NM_000179.3(MSH6):c.3729A>G (p.Thr1243=) rs773807182 0.00004
NM_000238.4(KCNH2):c.1471G>A (p.Val491Ile) rs374376640 0.00004
NM_000243.3(MEFV):c.775A>G (p.Ile259Val) rs104895144 0.00004
NM_000271.5(NPC1):c.181-4A>C rs374571310 0.00004
NM_000271.5(NPC1):c.2692G>A (p.Asp898Asn) rs528841924 0.00004
NM_000283.4(PDE6B):c.2129+8C>T rs764138476 0.00004
NM_000297.4(PKD2):c.1555G>A (p.Val519Met) rs148920907 0.00004
NM_000298.6(PKLR):c.1075C>T (p.Arg359Cys) rs138871700 0.00004
NM_000342.4(SLC4A1):c.1937G>A (p.Arg646Gln) rs121912757 0.00004
NM_000368.5(TSC1):c.1976C>T (p.Ala659Val) rs118203609 0.00004
NM_000402.4(G6PD):c.583A>G (p.Asn195Asp) rs137852331 0.00004
NM_000435.3(NOTCH3):c.4875A>C (p.Pro1625=) rs538466132 0.00004
NM_000441.2(SLC26A4):c.279del (p.Ser93fs) rs786204421 0.00004
NM_000492.4(CFTR):c.1766+1G>A rs121908748 0.00004
NM_000492.4(CFTR):c.2354G>A (p.Arg785Gln) rs141880790 0.00004
NM_000492.4(CFTR):c.3121A>C (p.Lys1041Gln) rs769448889 0.00004
NM_000492.4(CFTR):c.490A>G (p.Thr164Ala) rs200885306 0.00004
NM_000517.6(HBA2):c.69C>T (p.Gly23=) rs63751457 0.00004
NM_000532.5(PCCB):c.163A>G (p.Ile55Val) rs561539546 0.00004
NM_000546.6(TP53):c.993+312C>T rs756952434 0.00004
NM_000642.3(AGL):c.767G>A (p.Arg256His) rs200180652 0.00004
NM_000883.4(IMPDH1):c.1654G>A (p.Gly552Ser) rs149762411 0.00004
NM_001006658.3(CR2):c.1079G>A (p.Arg360Gln) rs139617666 0.00004
NM_001009944.3(PKD1):c.3159C>T (p.Phe1053=) rs369632433 0.00004
NM_001040151.2(SCN3B):c.416G>A (p.Arg139Gln) rs770801747 0.00004
NM_001042492.3(NF1):c.6664A>G (p.Thr2222Ala) rs745945481 0.00004
NM_001084.5(PLOD3):c.2171C>T (p.Thr724Met) rs375797901 0.00004
NM_001110556.2(FLNA):c.1768G>A (p.Val590Ile) rs782776511 0.00004
NM_001110556.2(FLNA):c.63C>T (p.Val21=) rs782306951 0.00004
NM_001114753.3(ENG):c.727G>A (p.Ala243Thr) rs761827492 0.00004
NM_001142864.4(PIEZO1):c.2329+11C>T rs1313856152 0.00004
NM_001142864.4(PIEZO1):c.5615G>A (p.Arg1872His) rs1004130638 0.00004
NM_001148.6(ANK2):c.3623A>C (p.Lys1208Thr) rs375594801 0.00004
NM_001243133.2(NLRP3):c.111C>T (p.Ile37=) rs145314485 0.00004
NM_001243133.2(NLRP3):c.2835-7T>G rs747303698 0.00004
NM_001244008.2(KIF1A):c.4744-4G>A rs771679601 0.00004
NM_001267550.2(TTN):c.105719G>A (p.Arg35240Gln) rs530537991 0.00004
NM_001267550.2(TTN):c.28924A>G (p.Ser9642Gly) rs367888853 0.00004
NM_001267550.2(TTN):c.45652C>T (p.Arg15218Trp) rs371621174 0.00004
NM_001267550.2(TTN):c.99335C>A (p.Thr33112Lys) rs374883160 0.00004
NM_001365536.1(SCN9A):c.1714G>A (p.Asp572Asn) rs747040987 0.00004
NM_001370466.1(NOD2):c.1540C>T (p.Arg514Trp) rs576658764 0.00004
NM_001376.5(DYNC1H1):c.4484A>G (p.Asn1495Ser) rs566164007 0.00004
NM_001379610.1(SPINK1):c.203A>G (p.Gln68Arg) rs760077990 0.00004
NM_001382430.1(AKT1):c.1194C>T (p.Asp398=) rs151254374 0.00004
NM_001457.4(FLNB):c.1135A>G (p.Ile379Val) rs374118649 0.00004
NM_001931.5(DLAT):c.381+5G>T rs552793 0.00004
NM_001999.4(FBN2):c.4418G>A (p.Arg1473His) rs140812463 0.00004
NM_002180.3(IGHMBP2):c.222C>T (p.Ser74=) rs139237340 0.00004
NM_002471.4(MYH6):c.4999G>A (p.Asp1667Asn) rs758251388 0.00004
NM_002890.3(RASA1):c.2337C>T (p.Ser779=) rs758662266 0.00004
NM_003036.4(SKI):c.1258G>A (p.Ala420Thr) rs771862077 0.00004
NM_003242.6(TGFBR2):c.617C>T (p.Thr206Met) rs150022335 0.00004
NM_003319.4(TTN):c.37778-4C>G rs369934310 0.00004
NM_003978.5(PSTPIP1):c.847C>T (p.Pro283Ser) rs774891463 0.00004
NM_004004.6(GJB2):c.439G>A (p.Glu147Lys) rs767178508 0.00004
NM_004004.6(GJB2):c.78C>T (p.Thr26=) rs201848820 0.00004
NM_004006.3(DMD):c.4275A>G (p.Glu1425=) rs72468647 0.00004
NM_004239.4(TRIP11):c.4159G>A (p.Glu1387Lys) rs201607866 0.00004
NM_004990.4(MARS1):c.2053G>A (p.Val685Ile) rs558631075 0.00004
NM_005529.7(HSPG2):c.13096C>T (p.Pro4366Ser) rs771945509 0.00004
NM_005529.7(HSPG2):c.2966A>G (p.Tyr989Cys) rs565853695 0.00004
NM_005529.7(HSPG2):c.7738-8T>C rs753647916 0.00004
NM_005751.5(AKAP9):c.4195A>G (p.Thr1399Ala) rs757261572 0.00004
NM_005902.4(SMAD3):c.1125C>T (p.Ser375=) rs144245324 0.00004
NM_006258.4(PRKG1):c.2049T>C (p.Asp683=) rs771700923 0.00004
NM_006579.3(EBP):c.188G>A (p.Arg63Gln) rs782638360 0.00004
NM_007294.4(BRCA1):c.1470A>G (p.Pro490=) rs775032066 0.00004
NM_007294.4(BRCA1):c.3454G>A (p.Asp1152Asn) rs80357175 0.00004
NM_007294.4(BRCA1):c.427G>A (p.Glu143Lys) rs80356991 0.00004
NM_007294.4(BRCA1):c.4357+17A>G rs80358180 0.00004
NM_007294.4(BRCA1):c.5157G>T (p.Val1719=) rs28897697 0.00004
NM_007294.4(BRCA1):c.570C>T (p.Thr190=) rs201536070 0.00004
NM_015404.4(WHRN):c.958C>T (p.Leu320Phe) rs780855079 0.00004
NM_018706.7(DHTKD1):c.2239C>T (p.His747Tyr) rs539692445 0.00004
NM_018706.7(DHTKD1):c.876C>T (p.Ala292=) rs556079764 0.00004
NM_018979.4(WNK1):c.4265T>G (p.Val1422Gly) rs779654189 0.00004
NM_018979.4(WNK1):c.5462C>T (p.Ala1821Val) rs371264719 0.00004
NM_019075.4(UGT1A10):c.855+44683G>A rs373408916 0.00004
NM_021625.5(TRPV4):c.711A>G (p.Arg237=) rs927188562 0.00004
NM_021939.4(FKBP10):c.942T>C (p.Asn314=) rs376553350 0.00004
NM_022124.6(CDH23):c.6091G>A (p.Ala2031Thr) rs368381520 0.00004
NM_022489.4(INF2):c.2765G>A (p.Arg922His) rs749197190 0.00004
NM_024675.4(PALB2):c.2289G>C (p.Leu763Phe) rs373478248 0.00004
NM_133379.5(TTN):c.12973C>T (p.Arg4325Cys) rs142273664 0.00004
NM_177438.3(DICER1):c.1583T>C (p.Ile528Thr) rs143099538 0.00004
NM_194248.3(OTOF):c.3637G>A (p.Gly1213Ser) rs140023414 0.00004
NM_201253.3(CRB1):c.1014C>A (p.Ile338=) rs771549675 0.00004
NM_000038.6(APC):c.70C>T (p.Arg24Ter) rs145945630 0.00003
NM_000059.4(BRCA2):c.316+12A>G rs186419778 0.00003
NM_000059.4(BRCA2):c.7977-23T>C rs113433416 0.00003
NM_000059.4(BRCA2):c.8421G>A (p.Ser2807=) rs371278843 0.00003
NM_000059.4(BRCA2):c.8917C>T (p.Arg2973Cys) rs45469092 0.00003
NM_000059.4(BRCA2):c.9235del (p.Val3079fs) rs397507422 0.00003
NM_000059.4(BRCA2):c.9253A>C (p.Thr3085Pro) rs397507423 0.00003
NM_000071.3(CBS):c.317-22G>A rs200724824 0.00003
NM_000090.4(COL3A1):c.3363+21G>C rs376559659 0.00003
NM_000093.5(COL5A1):c.1827+11C>T rs374795810 0.00003
NM_000093.5(COL5A1):c.3257C>T (p.Ala1086Val) rs774849517 0.00003
NM_000138.5(FBN1):c.4719T>C (p.Pro1573=) rs761947423 0.00003
NM_000138.5(FBN1):c.5519G>A (p.Arg1840His) rs369482365 0.00003
NM_000143.4(FH):c.1462G>A (p.Glu488Lys) rs201115573 0.00003
NM_000155.4(GALT):c.640G>A (p.Gly214Arg) rs1413579895 0.00003
NM_000218.3(KCNQ1):c.1552C>T (p.Arg518Ter) rs17215500 0.00003
NM_000219.6(KCNE1):c.173C>T (p.Thr58Ile) rs747321794 0.00003
NM_000243.3(MEFV):c.1803T>A (p.Ile601=) rs779572391 0.00003
NM_000256.3(MYBPC3):c.1243A>C (p.Ile415Leu) rs1269517446 0.00003
NM_000260.4(MYO7A):c.4619C>T (p.Ala1540Val) rs111033511 0.00003
NM_000302.4(PLOD1):c.1255T>C (p.Trp419Arg) rs373446893 0.00003
NM_000314.8(PTEN):c.-28C>T rs764917503 0.00003
NM_000342.4(SLC4A1):c.1162C>T (p.Arg388Cys) rs765891978 0.00003
NM_000402.4(G6PD):c.1093G>A (p.Ala365Thr) rs5030869 0.00003
NM_000431.4(MVK):c.974G>A (p.Arg325His) rs374686559 0.00003
NM_000435.3(NOTCH3):c.2978C>T (p.Thr993Met) rs371278091 0.00003
NM_000478.6(ALPL):c.1540G>A (p.Ala514Thr) rs367657406 0.00003
NM_000492.4(CFTR):c.1040G>A (p.Arg347His) rs77932196 0.00003
NM_000492.4(CFTR):c.1125A>C (p.Leu375Phe) rs73215912 0.00003
NM_000492.4(CFTR):c.2374C>G (p.Arg792Gly) rs145449046 0.00003
NM_000492.4(CFTR):c.2939T>A (p.Ile980Lys) rs397508463 0.00003
NM_000492.4(CFTR):c.3177A>G (p.Leu1059=) rs1800113 0.00003
NM_000492.4(CFTR):c.3457G>A (p.Val1153Met) rs143120209 0.00003
NM_000492.4(CFTR):c.365A>G (p.Tyr122Cys) rs377295859 0.00003
NM_000492.4(CFTR):c.4003C>T (p.Leu1335Phe) rs145545286 0.00003
NM_000492.4(CFTR):c.4031G>C (p.Cys1344Ser) rs368427311 0.00003
NM_000492.4(CFTR):c.4340T>A (p.Val1447Glu) rs1397796355 0.00003
NM_000518.5(HBB):c.316-12T>C rs781604042 0.00003
NM_000518.5(HBB):c.316-28G>A rs771736852 0.00003
NM_000518.5(HBB):c.316-7C>A rs34483965 0.00003
NM_000532.5(PCCB):c.862G>C (p.Val288Leu) rs201984177 0.00003
NM_000546.6(TP53):c.105G>C (p.Leu35Phe) rs121912661 0.00003
NM_000552.5(VWF):c.3747T>C (p.Asp1249=) rs200893595 0.00003
NM_000552.5(VWF):c.4007G>A (p.Arg1336Gln) rs886049741 0.00003
NM_000558.5(HBA1):c.364G>A (p.Val122Met) rs63751008 0.00003
NM_000637.5(GSR):c.1261A>G (p.Ile421Val) rs199709765 0.00003
NM_001035.3(RYR2):c.6158A>G (p.Lys2053Arg) rs771590345 0.00003
NM_001040151.2(SCN3B):c.60T>G (p.Ser20Arg) rs771342044 0.00003
NM_001042492.3(NF1):c.*4T>C rs201044568 0.00003
NM_001042492.3(NF1):c.1296G>A (p.Val432=) rs371599283 0.00003
NM_001048174.2(MUTYH):c.1399C>T (p.Arg467Cys) rs587781668 0.00003
NM_001079802.2(FKTN):c.1249G>A (p.Glu417Lys) rs765934383 0.00003
NM_001110556.2(FLNA):c.3368C>G (p.Ser1123Cys) rs782361719 0.00003
NM_001122955.4(BSCL2):c.1168G>A (p.Glu390Lys) rs141518903 0.00003
NM_001128228.3(TPRN):c.1936G>A (p.Glu646Lys) rs370001536 0.00003
NM_001142864.4(PIEZO1):c.352G>A (p.Ala118Thr) rs752004128 0.00003
NM_001142864.4(PIEZO1):c.4234+18G>A rs778887008 0.00003
NM_001145809.2(MYH14):c.1381C>T (p.Arg461Cys) rs752732851 0.00003
NM_001243133.2(NLRP3):c.-72G>A rs200386207 0.00003
NM_001267550.2(TTN):c.45940A>G (p.Met15314Val) rs1391292606 0.00003
NM_001267550.2(TTN):c.48164G>A (p.Arg16055His) rs72677238 0.00003
NM_001267550.2(TTN):c.53100T>G (p.Pro17700=) rs373140387 0.00003
NM_001267550.2(TTN):c.73765T>C (p.Tyr24589His) rs371821218 0.00003
NM_001355436.2(SPTB):c.5668G>A (p.Asp1890Asn) rs757030587 0.00003
NM_001360016.2(G6PD):c.486-29G>T rs370403856 0.00003
NM_001364905.1(LRBA):c.1316A>G (p.Asn439Ser) rs572309256 0.00003
NM_001370466.1(NOD2):c.2658C>T (p.Asp886=) rs104895451 0.00003
NM_001370466.1(NOD2):c.907C>T (p.Pro303Ser) rs773132030 0.00003
NM_001377.3(DYNC2H1):c.10142C>T (p.Pro3381Leu) rs368631447 0.00003
NM_001377.3(DYNC2H1):c.11509A>G (p.Lys3837Glu) rs1434517868 0.00003
NM_001377.3(DYNC2H1):c.12022C>T (p.Arg4008Cys) rs765336353 0.00003
NM_001377.3(DYNC2H1):c.5180T>C (p.Ile1727Thr) rs1478814855 0.00003
NM_001377.3(DYNC2H1):c.5972T>A (p.Met1991Lys) rs1202784860 0.00003
NM_001377.3(DYNC2H1):c.6115C>T (p.Arg2039Cys) rs779111999 0.00003
NM_001377229.1(DISP1):c.559G>A (p.Asp187Asn) rs758163679 0.00003
NM_001395413.1(POR):c.1346C>T (p.Pro449Leu) rs72557935 0.00003
NM_001457.4(FLNB):c.5147C>T (p.Pro1716Leu) rs201370865 0.00003
NM_002474.3(MYH11):c.444C>T (p.His148=) rs569925780 0.00003
NM_002661.5(PLCG2):c.3657A>T (p.Thr1219=) rs201318091 0.00003
NM_002838.5(PTPRC):c.1818G>A (p.Lys606=) rs575318196 0.00003
NM_003060.4(SLC22A5):c.1053-2A>C rs777004046 0.00003
NM_003060.4(SLC22A5):c.523G>A (p.Val175Met) rs781721860 0.00003
NM_003482.4(KMT2D):c.16197G>A (p.Val5399=) rs776542344 0.00003
NM_003640.5(ELP1):c.2009T>G (p.Phe670Cys) rs139479557 0.00003
NM_004006.3(DMD):c.4421G>C (p.Ser1474Thr) rs398123956 0.00003
NM_004239.4(TRIP11):c.1587C>T (p.Ile529=) rs762961289 0.00003
NM_004984.4(KIF5A):c.1167G>A (p.Leu389=) rs758700375 0.00003
NM_005529.7(HSPG2):c.2520C>T (p.Asp840=) rs544565016 0.00003
NM_007194.4(CHEK2):c.283C>T (p.Arg95Ter) rs587781269 0.00003
NM_007272.3(CTRC):c.616G>A (p.Asp206Asn) rs780097120 0.00003
NM_007294.4(BRCA1):c.212+21G>A rs80358147 0.00003
NM_007294.4(BRCA1):c.4096+30C>T rs369055904 0.00003
NM_007294.4(BRCA1):c.4185+10G>C rs80358104 0.00003
NM_007294.4(BRCA1):c.5152+15A>G rs750905289 0.00003
NM_014249.4(NR2E3):c.768G>A (p.Ala256=) rs1448837236 0.00003
NM_014629.4(ARHGEF10):c.2728A>G (p.Ile910Val) rs1480757811 0.00003
NM_014845.6(FIG4):c.2146C>T (p.Arg716Cys) rs139235893 0.00003
NM_016239.4(MYO15A):c.3743G>A (p.Arg1248Gln) rs751800816 0.00003
NM_017780.4(CHD7):c.8610G>A (p.Ala2870=) rs375459176 0.00003
NM_020631.6(PLEKHG5):c.813G>A (p.Glu271=) rs777414805 0.00003
NM_020779.4(WDR35):c.3170A>G (p.Tyr1057Cys) rs541910371 0.00003
NM_022489.4(INF2):c.3032C>G (p.Thr1011Arg) rs551015347 0.00003
NM_024753.5(TTC21B):c.62A>G (p.His21Arg) rs757283243 0.00003
NM_032444.4(SLX4):c.3062G>C (p.Arg1021Pro) rs200842643 0.00003
NM_153717.3(EVC):c.625G>A (p.Val209Ile) rs202026284 0.00003
NM_170707.4(LMNA):c.885G>A (p.Ser295=) rs776999079 0.00003
NM_172250.3(MMAA):c.970-5G>A rs370814663 0.00003
NM_181523.3(PIK3R1):c.197G>A (p.Arg66Lys) rs761122171 0.00003
NM_182925.5(FLT4):c.2407-18C>T rs1474651988 0.00003
NM_182961.4(SYNE1):c.21815A>G (p.Lys7272Arg) rs764715827 0.00003
NM_182961.4(SYNE1):c.3404A>C (p.Glu1135Ala) rs764928878 0.00003
NM_194248.3(OTOF):c.2771A>G (p.Glu924Gly) rs1471175454 0.00003
NM_000059.4(BRCA2):c.10240A>G (p.Thr3414Ala) rs80358405 0.00002
NM_000059.4(BRCA2):c.1538A>G (p.Lys513Arg) rs28897709 0.00002
NM_000059.4(BRCA2):c.5167A>G (p.Thr1723Ala) rs80358742 0.00002
NM_000059.4(BRCA2):c.5645C>A (p.Ser1882Ter) rs80358785 0.00002
NM_000059.4(BRCA2):c.9728C>T (p.Pro3243Leu) rs80359241 0.00002
NM_000071.3(CBS):c.959T>C (p.Val320Ala) rs781567152 0.00002
NM_000090.4(COL3A1):c.3069C>A (p.Gly1023=) rs778417073 0.00002
NM_000090.4(COL3A1):c.4073G>A (p.Arg1358Gln) rs745656610 0.00002
NM_000093.5(COL5A1):c.2635C>A (p.Gln879Lys) rs758475317 0.00002
NM_000095.3(COMP):c.975+10C>T rs1451106951 0.00002
NM_000138.5(FBN1):c.2154G>A (p.Thr718=) rs377033515 0.00002
NM_000138.5(FBN1):c.4999G>A (p.Val1667Ile) rs140626 0.00002
NM_000138.5(FBN1):c.6007G>A (p.Gly2003Arg) rs1413737899 0.00002
NM_000138.5(FBN1):c.6732G>A (p.Met2244Ile) rs780960909 0.00002
NM_000243.3(MEFV):c.1611-33G>A rs557544409 0.00002
NM_000256.3(MYBPC3):c.2682G>T (p.Glu894Asp) rs369289966 0.00002
NM_000298.6(PKLR):c.1463G>A (p.Arg488Gln) rs369183199 0.00002
NM_000334.4(SCN4A):c.4216G>A (p.Ala1406Thr) rs774364108 0.00002
NM_000368.5(TSC1):c.3237C>T (p.Gly1079=) rs749995749 0.00002
NM_000393.5(COL5A2):c.906+10A>T rs776578452 0.00002
NM_000459.5(TEK):c.1909+18C>G rs41303213 0.00002
NM_000478.6(ALPL):c.1470C>T (p.Ile490=) rs771120248 0.00002
NM_000492.4(CFTR):c.127G>A (p.Val43Ile) rs370586917 0.00002
NM_000492.4(CFTR):c.3650C>T (p.Ala1217Val) rs749662161 0.00002
NM_000492.4(CFTR):c.3789T>C (p.Thr1263=) rs200921635 0.00002
NM_000492.4(CFTR):c.4426C>T (p.Gln1476Ter) rs374705585 0.00002
NM_000517.6(HBA2):c.*103G>A rs1363099908 0.00002
NM_000517.6(HBA2):c.95+1G>A rs63750158 0.00002
NM_000518.5(HBB):c.*93A>T rs901033731 0.00002
NM_000518.5(HBB):c.262A>C (p.Thr88Pro) rs35553496 0.00002
NM_000518.5(HBB):c.93-40C>T rs556727592 0.00002
NM_000520.6(HEXA):c.259C>T (p.Arg87Trp) rs573269641 0.00002
NM_000546.6(TP53):c.665C>T (p.Pro222Leu) rs146340390 0.00002
NM_001009944.3(PKD1):c.1674G>A (p.Thr558=) rs757658330 0.00002
NM_001035.3(RYR2):c.1022G>C (p.Gly341Ala) rs565413020 0.00002
NM_001110556.2(FLNA):c.2839G>A (p.Val947Ile) rs782239678 0.00002
NM_001110556.2(FLNA):c.4420G>A (p.Asp1474Asn) rs782129236 0.00002
NM_001110556.2(FLNA):c.4503C>T (p.Asp1501=) rs1324926264 0.00002
NM_001110556.2(FLNA):c.5271G>A (p.Leu1757=) rs782031542 0.00002
NM_001110556.2(FLNA):c.5661C>T (p.Thr1887=) rs782253233 0.00002
NM_001122955.4(BSCL2):c.455A>G (p.Asn152Ser) rs137852972 0.00002
NM_001136472.2(LITAF):c.100C>A (p.Pro34Thr) rs759905004 0.00002
NM_001145809.2(MYH14):c.4615C>T (p.Arg1539Cys) rs770767114 0.00002
NM_001244008.2(KIF1A):c.3271G>C (p.Ala1091Pro) rs779093187 0.00002
NM_001267550.2(TTN):c.31181T>C (p.Ile10394Thr) rs1219872673 0.00002
NM_001267550.2(TTN):c.48346G>A (p.Val16116Ile) rs367769671 0.00002
NM_001267550.2(TTN):c.64238A>G (p.Asp21413Gly) rs375659466 0.00002
NM_001267550.2(TTN):c.98806C>T (p.Arg32936Cys) rs764276622 0.00002
NM_001291303.3(FAT4):c.9800A>G (p.His3267Arg) rs773545119 0.00002
NM_001291867.2(NHS):c.249G>T (p.Pro83=) rs1240476811 0.00002
NM_001355436.2(SPTB):c.1504C>T (p.Arg502Cys) rs755636829 0.00002
NM_001374353.1(GLI2):c.2284C>T (p.Pro762Ser) rs773216992 0.00002
NM_001375808.2(LPIN2):c.1814C>T (p.Ser605Leu) rs781778980 0.00002
NM_001384140.1(PCDH15):c.4671+1559C>T rs368397508 0.00002
NM_001386125.1(OBSCN):c.5647G>A (p.Glu1883Lys) rs371852931 0.00002
NM_001395413.1(POR):c.1396C>G (p.Pro466Ala) rs558340290 0.00002
NM_001395413.1(POR):c.545A>G (p.Asn182Ser) rs782763044 0.00002
NM_001457.4(FLNB):c.1897A>G (p.Met633Val) rs937051879 0.00002
NM_001457.4(FLNB):c.246G>C (p.Val82=) rs780155723 0.00002
NM_001999.4(FBN2):c.4779C>T (p.Cys1593=) rs780191346 0.00002
NM_001999.4(FBN2):c.6881-5T>G rs772186151 0.00002
NM_002109.6(HARS1):c.220G>A (p.Glu74Lys) rs774017621 0.00002
NM_002529.4(NTRK1):c.2368G>A (p.Val790Ile) rs55948542 0.00002
NM_002769.5(PRSS1):c.200C>T (p.Ser67Phe) rs765342413 0.00002
NM_003476.5(CSRP3):c.282-16C>T rs757074408 0.00002
NM_003673.4(TCAP):c.386A>G (p.Asp129Gly) rs1324156287 0.00002
NM_004006.3(DMD):c.10677T>C (p.Ile3559=) rs765950547 0.00002
NM_004006.3(DMD):c.3498A>G (p.Leu1166=) rs767446687 0.00002
NM_004239.4(TRIP11):c.5446G>A (p.Glu1816Lys) rs1456373630 0.00002
NM_004415.4(DSP):c.2719C>T (p.Arg907Cys) rs749051278 0.00002
NM_004984.4(KIF5A):c.2734C>T (p.Arg912Trp) rs201098122 0.00002
NM_004984.4(KIF5A):c.510T>G (p.Thr170=) rs369289917 0.00002
NM_005422.4(TECTA):c.3739A>C (p.Asn1247His) rs781691033 0.00002
NM_005529.7(HSPG2):c.10460C>A (p.Pro3487His) rs144411636 0.00002
NM_005529.7(HSPG2):c.11291G>A (p.Arg3764His) rs149520064 0.00002
NM_005529.7(HSPG2):c.5598C>T (p.Pro1866=) rs768493622 0.00002
NM_005529.7(HSPG2):c.662G>A (p.Arg221Gln) rs539990898 0.00002
NM_005529.7(HSPG2):c.7307C>A (p.Thr2436Asn) rs747403733 0.00002
NM_006363.6(SEC23B):c.1512-10G>T rs770601333 0.00002
NM_007294.4(BRCA1):c.3699A>G (p.Lys1233=) rs368690455 0.00002
NM_007294.4(BRCA1):c.441G>C (p.Leu147Phe) rs748876625 0.00002
NM_007294.4(BRCA1):c.5068A>C (p.Lys1690Gln) rs397507239 0.00002
NM_007294.4(BRCA1):c.5194-34C>T rs760208409 0.00002
NM_007294.4(BRCA1):c.5576C>G (p.Pro1859Arg) rs80357322 0.00002
NM_012330.4(KAT6B):c.3293A>G (p.Glu1098Gly) rs774138994 0.00002
NM_013314.4(BLNK):c.156C>T (p.Tyr52=) rs782546596 0.00002
NM_016239.4(MYO15A):c.1672G>A (p.Gly558Ser) rs761888570 0.00002
NM_016239.4(MYO15A):c.2099A>T (p.His700Leu) rs1042721945 0.00002
NM_021939.4(FKBP10):c.587G>A (p.Ser196Asn) rs782660556 0.00002
NM_022124.6(CDH23):c.8083G>A (p.Asp2695Asn) rs369501114 0.00002
NM_022356.4(P3H1):c.1231C>T (p.Arg411Trp) rs146128481 0.00002
NM_025114.4(CEP290):c.1066-1G>A rs965522059 0.00002
NM_054012.4(ASS1):c.929A>G (p.Lys310Arg) rs199751308 0.00002
NM_080680.3(COL11A2):c.5170C>T (p.Arg1724Trp) rs762351406 0.00002
NM_133379.5(TTN):c.12462T>A (p.Thr4154=) rs1243996325 0.00002
NM_194248.3(OTOF):c.3101T>C (p.Ile1034Thr) rs779785339 0.00002
NM_206933.4(USH2A):c.15520-1G>A rs767265734 0.00002
NM_206933.4(USH2A):c.9415A>G (p.Ile3139Val) rs750899958 0.00002
NM_000016.6(ACADM):c.616C>T (p.Arg206Cys) rs373715782 0.00001
NM_000018.4(ACADVL):c.1052C>A (p.Thr351Asn) rs796051911 0.00001
NM_000018.4(ACADVL):c.1183-15A>G rs765390290 0.00001
NM_000018.4(ACADVL):c.1375C>T (p.Arg459Trp) rs766742117 0.00001
NM_000018.4(ACADVL):c.1552G>A (p.Gly518Ser) rs374507980 0.00001
NM_000018.4(ACADVL):c.907A>G (p.Lys303Glu) rs369149696 0.00001
NM_000020.3(ACVRL1):c.1450C>T (p.Arg484Trp) rs121909288 0.00001
NM_000033.4(ABCD1):c.823C>T (p.Arg275Trp) rs782083931 0.00001
NM_000038.6(APC):c.3279T>G (p.Phe1093Leu) rs199539973 0.00001
NM_000038.6(APC):c.532T>A (p.Phe178Ile) rs1060503344 0.00001
NM_000051.4(ATM):c.76G>C (p.Glu26Gln) rs730881361 0.00001
NM_000052.7(ATP7A):c.4414C>T (p.Arg1472Cys) rs782062633 0.00001
NM_000059.4(BRCA2):c.10076A>G (p.Glu3359Gly) rs80358389 0.00001
NM_000059.4(BRCA2):c.3103G>T (p.Glu1035Ter) rs80358556 0.00001
NM_000059.4(BRCA2):c.343A>G (p.Lys115Glu) rs56242644 0.00001
NM_000059.4(BRCA2):c.3661T>C (p.Ser1221Pro) rs80358611 0.00001
NM_000059.4(BRCA2):c.4258del (p.Asp1420fs) rs80359436 0.00001
NM_000059.4(BRCA2):c.4689G>A (p.Trp1563Ter) rs886038108 0.00001
NM_000059.4(BRCA2):c.5864C>A (p.Ser1955Ter) rs80358815 0.00001
NM_000059.4(BRCA2):c.6531T>A (p.Ile2177=) rs587780658 0.00001
NM_000059.4(BRCA2):c.7617+38A>G rs1555286323 0.00001
NM_000059.4(BRCA2):c.7759C>T (p.Leu2587Phe) rs56335340 0.00001
NM_000059.4(BRCA2):c.8124T>G (p.Thr2708=) rs587780662 0.00001
NM_000059.4(BRCA2):c.856T>C (p.Ser286Pro) rs80359111 0.00001
NM_000059.4(BRCA2):c.8686C>T (p.Arg2896Cys) rs373203204 0.00001
NM_000059.4(BRCA2):c.870C>T (p.Val290=) rs1177514552 0.00001
NM_000059.4(BRCA2):c.918T>C (p.Asp306=) rs184408918 0.00001
NM_000059.4(BRCA2):c.927A>G (p.Ser309=) rs80359806 0.00001
NM_000059.4(BRCA2):c.9509A>G (p.Asp3170Gly) rs80359224 0.00001
NM_000059.4(BRCA2):c.9583A>G (p.Thr3195Ala) rs80359227 0.00001
NM_000061.3(BTK):c.1791A>G (p.Pro597=) rs1340458277 0.00001
NM_000089.4(COL1A2):c.2122C>T (p.Arg708Trp) rs139199272 0.00001
NM_000090.4(COL3A1):c.13G>A (p.Val5Met) rs1461198652 0.00001
NM_000090.4(COL3A1):c.3693C>A (p.Thr1231=) rs368556405 0.00001
NM_000093.5(COL5A1):c.2646+12C>T rs751662116 0.00001
NM_000093.5(COL5A1):c.4302C>T (p.Pro1434=) rs755495352 0.00001
NM_000095.3(COMP):c.1148A>G (p.Gln383Arg) rs1221968769 0.00001
NM_000133.4(F9):c.1150C>T (p.Arg384Ter) rs137852261 0.00001
NM_000133.4(F9):c.354G>A (p.Trp118Ter) rs1234002716 0.00001
NM_000133.4(F9):c.459G>A (p.Val153=) rs144314232 0.00001
NM_000135.4(FANCA):c.1226-2A>G rs773906241 0.00001
NM_000138.5(FBN1):c.1169C>T (p.Ser390Phe) rs746385384 0.00001
NM_000138.5(FBN1):c.1693C>T (p.Arg565Ter) rs113422242 0.00001
NM_000138.5(FBN1):c.1779T>C (p.Ser593=) rs372195702 0.00001
NM_000138.5(FBN1):c.1825C>T (p.Arg609Cys) rs772574901 0.00001
NM_000138.5(FBN1):c.2228G>A (p.Arg743His) rs761942436 0.00001
NM_000138.5(FBN1):c.2253T>C (p.Asn751=) rs1566912218 0.00001
NM_000138.5(FBN1):c.3337+20A>G rs757193641 0.00001
NM_000138.5(FBN1):c.4428C>T (p.Tyr1476=) rs767462642 0.00001
NM_000138.5(FBN1):c.4444G>A (p.Gly1482Ser) rs762532435 0.00001
NM_000138.5(FBN1):c.4460-8G>A rs193922204 0.00001
NM_000138.5(FBN1):c.6187G>A (p.Ala2063Thr) rs1316593215 0.00001
NM_000142.5(FGFR3):c.1756G>A (p.Glu586Lys) rs576023546 0.00001
NM_000155.4(GALT):c.601C>T (p.Arg201Cys) rs111033739 0.00001
NM_000179.3(MSH6):c.1524G>A (p.Val508=) rs878853705 0.00001
NM_000179.3(MSH6):c.2653A>G (p.Lys885Glu) rs587782593 0.00001
NM_000179.3(MSH6):c.3084A>T (p.Ser1028=) rs786201843 0.00001
NM_000179.3(MSH6):c.3339T>G (p.Ile1113Met) rs786202044 0.00001
NM_000179.3(MSH6):c.628-2A>G rs1114167725 0.00001
NM_000179.3(MSH6):c.81C>G (p.Ala27=) rs781496151 0.00001
NM_000188.3(HK1):c.1220G>A (p.Arg407Gln) rs777108601 0.00001
NM_000218.3(KCNQ1):c.477+5G>A rs397508111 0.00001
NM_000243.3(MEFV):c.443A>T (p.Glu148Val) rs104895076 0.00001
NM_000243.3(MEFV):c.490A>C (p.Lys164Gln) rs1306636942 0.00001
NM_000249.4(MLH1):c.1517T>C (p.Val506Ala) rs63749909 0.00001
NM_000249.4(MLH1):c.244A>G (p.Thr82Ala) rs587778998 0.00001
NM_000249.4(MLH1):c.786C>G (p.Ile262Met) rs748553134 0.00001
NM_000251.3(MSH2):c.1640A>G (p.Asn547Ser) rs267607967 0.00001
NM_000251.3(MSH2):c.2131C>T (p.Arg711Ter) rs63750636 0.00001
NM_000251.3(MSH2):c.375T>G (p.Pro125=) rs1427268231 0.00001
NM_000256.3(MYBPC3):c.2573G>A (p.Ser858Asn) rs727503185 0.00001
NM_000257.4(MYH7):c.2681A>G (p.Glu894Gly) rs397516161 0.00001
NM_000298.6(PKLR):c.101-1G>A rs1448381947 0.00001
NM_000350.3(ABCA4):c.123G>A (p.Trp41Ter) rs748357067 0.00001
NM_000350.3(ABCA4):c.214G>A (p.Gly72Arg) rs61751412 0.00001
NM_000368.5(TSC1):c.1794C>T (p.Ser598=) rs766438395 0.00001
NM_000371.4(TTR):c.408T>C (p.Tyr136=) rs1454790119 0.00001
NM_000393.5(COL5A2):c.1302+9T>C rs1199559237 0.00001
NM_000393.5(COL5A2):c.283G>C (p.Val95Leu) rs1200990468 0.00001
NM_000393.5(COL5A2):c.3071C>T (p.Ala1024Val) rs763462242 0.00001
NM_000393.5(COL5A2):c.3352C>T (p.Arg1118Cys) rs1386081744 0.00001
NM_000399.5(EGR2):c.1179C>T (p.Thr393=) rs965148587 0.00001
NM_000399.5(EGR2):c.88G>A (p.Asp30Asn) rs371222708 0.00001
NM_000431.4(MVK):c.371+9G>A rs551460898 0.00001
NM_000431.4(MVK):c.519C>T (p.Cys173=) rs554487221 0.00001
NM_000431.4(MVK):c.945G>A (p.Leu315=) rs752469036 0.00001
NM_000435.3(NOTCH3):c.133G>C (p.Asp45His) rs142031490 0.00001
NM_000435.3(NOTCH3):c.1494C>T (p.Gly498=) rs142762020 0.00001
NM_000435.3(NOTCH3):c.154G>A (p.Gly52Arg) rs148166997 0.00001
NM_000435.3(NOTCH3):c.2329C>T (p.Pro777Ser) rs886054259 0.00001
NM_000435.3(NOTCH3):c.3725G>A (p.Arg1242His) rs146149484 0.00001
NM_000441.2(SLC26A4):c.886A>G (p.Ile296Val) rs761613436 0.00001
NM_000465.4(BARD1):c.1226C>G (p.Ser409Cys) rs786202226 0.00001
NM_000478.6(ALPL):c.299C>T (p.Thr100Met) rs1201942473 0.00001
NM_000492.4(CFTR):c.1013C>T (p.Thr338Ile) rs77409459 0.00001
NM_000492.4(CFTR):c.1393-13G>A rs779389972 0.00001
NM_000492.4(CFTR):c.1437G>C (p.Glu479Asp) rs754152822 0.00001
NM_000492.4(CFTR):c.1826A>G (p.His609Arg) rs397508310 0.00001
NM_000492.4(CFTR):c.2125C>T (p.Arg709Ter) rs121908760 0.00001
NM_000492.4(CFTR):c.2280G>A (p.Thr760=) rs138634146 0.00001
NM_000492.4(CFTR):c.2679G>T (p.Gly893=) rs397508419 0.00001
NM_000492.4(CFTR):c.2909G>A (p.Gly970Asp) rs386134230 0.00001
NM_000492.4(CFTR):c.293A>G (p.Gln98Arg) rs397508464 0.00001
NM_000492.4(CFTR):c.2981T>G (p.Phe994Cys) rs397508469 0.00001
NM_000492.4(CFTR):c.3107C>A (p.Thr1036Asn) rs397508498 0.00001
NM_000492.4(CFTR):c.3197G>A (p.Arg1066His) rs121909019 0.00001
NM_000492.4(CFTR):c.333G>A (p.Pro111=) rs776878618 0.00001
NM_000492.4(CFTR):c.3407C>T (p.Ala1136Val) rs1562916044 0.00001
NM_000492.4(CFTR):c.3441A>G (p.Val1147=) rs375687401 0.00001
NM_000492.4(CFTR):c.40A>G (p.Lys14Glu) rs397508673 0.00001
NM_000492.4(CFTR):c.4436G>A (p.Arg1479Lys) rs1325117166 0.00001
NM_000492.4(CFTR):c.514C>A (p.Leu172Ile) rs769606990 0.00001
NM_000492.4(CFTR):c.581G>T (p.Gly194Val) rs397508763 0.00001
NM_000492.4(CFTR):c.900C>A (p.Ala300=) rs146652541 0.00001
NM_000517.6(HBA2):c.98T>G (p.Met33Arg) rs1468615416 0.00001
NM_000518.5(HBB):c.*97G>C rs770911771 0.00001
NM_000518.5(HBB):c.114G>A (p.Trp38Ter) rs33974936 0.00001
NM_000518.5(HBB):c.131A>C (p.Glu44Ala) rs35262412 0.00001
NM_000520.6(HEXA):c.1510C>T (p.Arg504Cys) rs28942071 0.00001
NM_000520.6(HEXA):c.32T>C (p.Leu11Pro) rs141120074 0.00001
NM_000530.8(MPZ):c.418T>A (p.Ser140Thr) rs572010627 0.00001
NM_000530.8(MPZ):c.646-3C>G rs750756212 0.00001
NM_000539.3(RHO):c.50C>T (p.Thr17Met) rs104893769 0.00001
NM_000541.5(SAG):c.511A>G (p.Lys171Glu) rs552862207 0.00001
NM_000551.4(VHL):c.634G>T (p.Gly212Ter) rs1553620389 0.00001
NM_000552.5(VWF):c.4690C>T (p.Arg1564Trp) rs370854023 0.00001
NM_000719.7(CACNA1C):c.4837G>A (p.Val1613Ile) rs757629968 0.00001
NM_000719.7(CACNA1C):c.6019G>A (p.Ala2007Thr) rs750411964 0.00001
NM_001003800.2(BICD2):c.1376C>T (p.Thr459Met) rs777065935 0.00001
NM_001005361.3(DNM2):c.1110C>T (p.Phe370=) rs201700534 0.00001
NM_001009944.3(PKD1):c.9518C>T (p.Pro3173Leu) rs772608027 0.00001
NM_001009944.3(PKD1):c.9815G>A (p.Arg3272His) rs1452116333 0.00001
NM_001035.3(RYR2):c.1203T>C (p.Asp401=) rs1196750903 0.00001
NM_001035.3(RYR2):c.2941A>G (p.Met981Val) rs768893657 0.00001
NM_001035.3(RYR2):c.3808-17G>A rs374061574 0.00001
NM_001042492.3(NF1):c.1541_1542del (p.Gln514fs) rs267606600 0.00001
NM_001042492.3(NF1):c.2041C>T (p.Arg681Ter) rs768638173 0.00001
NM_001042492.3(NF1):c.3974+9T>A rs368586596 0.00001
NM_001042492.3(NF1):c.4600C>T (p.Arg1534Ter) rs760703505 0.00001
NM_001042492.3(NF1):c.5488C>T (p.Arg1830Cys) rs797045139 0.00001
NM_001042492.3(NF1):c.587-3C>T rs375188075 0.00001
NM_001065.4(TNFRSF1A):c.482A>G (p.Lys161Arg) rs578112440 0.00001
NM_001072.4(UGT1A6):c.146T>G (p.Leu49Arg) rs768130153 0.00001
NM_001081.4(CUBN):c.4268C>T (p.Thr1423Met) rs483352704 0.00001
NM_001081.4(CUBN):c.8720C>A (p.Ala2907Glu) rs758557930 0.00001
NM_001110556.2(FLNA):c.3323G>A (p.Cys1108Tyr) rs371677498 0.00001
NM_001110556.2(FLNA):c.6983C>T (p.Pro2328Leu) rs782310851 0.00001
NM_001110792.2(MECP2):c.1150C>T (p.His384Tyr) rs375477214 0.00001
NM_001114753.3(ENG):c.1273-5C>T rs779103881 0.00001
NM_001114753.3(ENG):c.1686+76G>T rs992021844 0.00001
NM_001130823.3(DNMT1):c.3456G>C (p.Leu1152=) rs897612567 0.00001
NM_001142864.4(PIEZO1):c.3556G>A (p.Gly1186Arg) rs536842871 0.00001
NM_001142864.4(PIEZO1):c.3740T>G (p.Phe1247Cys) rs907173644 0.00001
NM_001142864.4(PIEZO1):c.6421G>A (p.Asp2141Asn) rs781566440 0.00001
NM_001145809.2(MYH14):c.4307G>A (p.Arg1436Gln) rs773527189 0.00001
NM_001145809.2(MYH14):c.4921C>T (p.Arg1641Cys) rs748898201 0.00001
NM_001148.6(ANK2):c.1511C>T (p.Ala504Val) rs1303233267 0.00001
NM_001148.6(ANK2):c.3045A>T (p.Ala1015=) rs1588357219 0.00001
NM_001204.7(BMPR2):c.*621G>A rs1303164094 0.00001
NM_001235.5(SERPINH1):c.1222C>T (p.Arg408Trp) rs769154335 0.00001
NM_001243133.2(NLRP3):c.2321+12T>A rs747043119 0.00001
NM_001244008.2(KIF1A):c.203C>T (p.Ala68Val) rs550027484 0.00001
NM_001244008.2(KIF1A):c.3816+8C>T rs776328472 0.00001
NM_001267550.2(TTN):c.27994G>A (p.Val9332Met) rs367734747 0.00001
NM_001267550.2(TTN):c.31324G>A (p.Glu10442Lys) rs1039659323 0.00001
NM_001267550.2(TTN):c.36049G>A (p.Glu12017Lys) rs777140466 0.00001
NM_001267550.2(TTN):c.51527G>C (p.Gly17176Ala) rs768961892 0.00001
NM_001267550.2(TTN):c.51551T>C (p.Ile17184Thr) rs752646731 0.00001
NM_001267550.2(TTN):c.583+5G>A rs397517663 0.00001
NM_001267550.2(TTN):c.76556T>C (p.Ile25519Thr) rs376185524 0.00001
NM_001267550.2(TTN):c.79342G>A (p.Val26448Met) rs1380054566 0.00001
NM_001267550.2(TTN):c.82739C>T (p.Thr27580Met) rs748535477 0.00001
NM_001267550.2(TTN):c.84398A>G (p.Asn28133Ser) rs727505053 0.00001
NM_001267550.2(TTN):c.87600G>C (p.Met29200Ile) rs750362675 0.00001
NM_001282426.2(PIK3CG):c.1480C>T (p.Gln494Ter) rs1584318294 0.00001
NM_001322934.2(NFKB2):c.2302C>T (p.Leu768=) rs1554991897 0.00001
NM_001364905.1(LRBA):c.1043C>G (p.Ser348Ter) rs1192554889 0.00001
NM_001364905.1(LRBA):c.2479C>T (p.Arg827Ter) rs779575307 0.00001
NM_001365536.1(SCN9A):c.2521C>T (p.Arg841Ter) rs780673293 0.00001
NM_001365536.1(SCN9A):c.2566A>G (p.Ile856Val) rs1218485798 0.00001
NM_001377.3(DYNC2H1):c.2000A>G (p.Asn667Ser) rs1591291196 0.00001
NM_001377.3(DYNC2H1):c.7441C>T (p.Arg2481Ter) rs537704873 0.00001
NM_001377.3(DYNC2H1):c.899A>G (p.His300Arg) rs775561158 0.00001
NM_001379610.1(SPINK1):c.206C>T (p.Thr69Ile) rs576564400 0.00001
NM_001379610.1(SPINK1):c.224A>T (p.Lys75Ile) rs1163281900 0.00001
NM_001384140.1(PCDH15):c.4249G>A (p.Ala1417Thr) rs1284117885 0.00001
NM_001386125.1(OBSCN):c.14627C>T (p.Thr4876Ile) rs960549121 0.00001
NM_001386125.1(OBSCN):c.8631C>T (p.Pro2877=) rs781325246 0.00001
NM_001386125.1(OBSCN):c.9172G>A (p.Ala3058Thr) rs1433965473 0.00001
NM_001395413.1(POR):c.1173G>A (p.Gln391=) rs1220024534 0.00001
NM_001395413.1(POR):c.1390-9T>G rs1554559045 0.00001
NM_001395413.1(POR):c.2013C>T (p.Tyr671=) rs1554559514 0.00001
NM_001457.4(FLNB):c.4717G>A (p.Asp1573Asn) rs373528171 0.00001
NM_001783.4(CD79A):c.452T>C (p.Ile151Thr) rs1221821073 0.00001
NM_001999.4(FBN2):c.1431G>A (p.Gly477=) rs759633050 0.00001
NM_001999.4(FBN2):c.1604-5C>T rs530806742 0.00001
NM_001999.4(FBN2):c.7058G>A (p.Arg2353His) rs775905979 0.00001
NM_001999.4(FBN2):c.827-19A>G rs199559284 0.00001
NM_002180.3(IGHMBP2):c.2260G>A (p.Asp754Asn) rs200499838 0.00001
NM_002230.4(JUP):c.1333G>C (p.Ala445Pro) rs782465430 0.00001
NM_002439.5(MSH3):c.3069C>G (p.His1023Gln) rs771861205 0.00001
NM_002474.3(MYH11):c.4790A>G (p.Gln1597Arg) rs534983279 0.00001
NM_002626.6(PFKL):c.1863G>A (p.Arg621=) rs539532679 0.00001
NM_002661.5(PLCG2):c.1501G>T (p.Ala501Ser) rs772234560 0.00001
NM_002769.5(PRSS1):c.201-37G>T rs774875799 0.00001
NM_002769.5(PRSS1):c.561C>T (p.Gly187=) rs1804561 0.00001
NM_002834.5(PTPN11):c.922A>G (p.Asn308Asp) rs28933386 0.00001
NM_002890.3(RASA1):c.2307G>A (p.Leu769=) rs780065565 0.00001
NM_003036.4(SKI):c.2171C>T (p.Ala724Val) rs1553201577 0.00001
NM_003060.4(SLC22A5):c.428C>T (p.Pro143Leu) rs1178584184 0.00001
NM_003060.4(SLC22A5):c.692C>T (p.Ser231Phe) rs386134206 0.00001
NM_003060.4(SLC22A5):c.95A>G (p.Asn32Ser) rs72552725 0.00001
NM_003072.5(SMARCA4):c.254C>T (p.Ser85Leu) rs751542188 0.00001
NM_003126.4(SPTA1):c.2823T>A (p.His941Gln) rs1478000749 0.00001
NM_003126.4(SPTA1):c.6634C>T (p.Gln2212Ter) rs1571371125 0.00001
NM_003978.5(PSTPIP1):c.493G>A (p.Gly165Ser) rs762291063 0.00001
NM_004004.6(GJB2):c.227T>C (p.Leu76Pro) rs111033361 0.00001
NM_004004.6(GJB2):c.365A>T (p.Lys122Ile) rs111033295 0.00001
NM_004006.3(DMD):c.6140A>G (p.Gln2047Arg) rs773782786 0.00001
NM_004006.3(DMD):c.7543-19G>A rs398124048 0.00001
NM_004239.4(TRIP11):c.203A>T (p.Asn68Ile) rs773364224 0.00001
NM_004360.5(CDH1):c.2542C>T (p.Leu848=) rs1567517746 0.00001
NM_004360.5(CDH1):c.805G>A (p.Gly269Arg) rs750979600 0.00001
NM_004415.4(DSP):c.1065G>A (p.Gln355=) rs750289780 0.00001
NM_004415.4(DSP):c.268C>T (p.Gln90Ter) rs886039343 0.00001
NM_004444.5(EPHB4):c.1330C>T (p.Arg444Trp) rs370505170 0.00001
NM_004589.4(SCO1):c.881T>A (p.Met294Lys) rs775176412 0.00001
NM_004656.4(BAP1):c.250C>T (p.His84Tyr) rs1338231889 0.00001
NM_004990.4(MARS1):c.2693A>C (p.Lys898Thr) rs28382854 0.00001
NM_004999.4(MYO6):c.238C>T (p.Arg80Ter) rs727504567 0.00001
NM_005214.5(CTLA4):c.209G>A (p.Arg70Gln) rs1581573705 0.00001
NM_005422.4(TECTA):c.3857C>T (p.Pro1286Leu) rs770133038 0.00001
NM_005529.7(HSPG2):c.13159C>T (p.Arg4387Cys) rs767431377 0.00001
NM_005529.7(HSPG2):c.3028C>T (p.Arg1010Cys) rs377016014 0.00001
NM_005957.5(MTHFR):c.773C>G (p.Pro258Arg) rs1553186124 0.00001
NM_006017.3(PROM1):c.400C>T (p.Arg134Cys) rs768526003 0.00001
NM_006070.6(TFG):c.1198C>T (p.Arg400Ter) rs757661070 0.00001
NM_006218.4(PIK3CA):c.2651A>G (p.Lys884Arg) rs1395235750 0.00001
NM_007294.4(BRCA1):c.1704T>G (p.Pro568=) rs587780795 0.00001
NM_007294.4(BRCA1):c.212+3A>G rs80358083 0.00001
NM_007294.4(BRCA1):c.2207A>C (p.Glu736Ala) rs397507196 0.00001
NM_007294.4(BRCA1):c.2222C>G (p.Ser741Cys) rs80357051 0.00001
NM_007294.4(BRCA1):c.2475del (p.Asp825fs) rs80357970 0.00001
NM_007294.4(BRCA1):c.2551G>A (p.Glu851Lys) rs398122662 0.00001
NM_007294.4(BRCA1):c.3909G>A (p.Leu1303=) rs1597860507 0.00001
NM_007294.4(BRCA1):c.4332T>C (p.Asn1444=) rs752824502 0.00001
NM_007294.4(BRCA1):c.4358-37G>A rs546408259 0.00001
NM_007294.4(BRCA1):c.5152+10A>G rs80358114 0.00001
NM_007294.4(BRCA1):c.5363G>T (p.Gly1788Val) rs80357069 0.00001
NM_007294.4(BRCA1):c.5382G>C (p.Glu1794Asp) rs397509275 0.00001
NM_007294.4(BRCA1):c.5406+17C>T rs1057522773 0.00001
NM_007294.4(BRCA1):c.548-18T>G rs397507251 0.00001
NM_012330.4(KAT6B):c.782C>T (p.Ala261Val) rs935089030 0.00001
NM_012452.3(TNFRSF13B):c.633T>C (p.Asp211=) rs199592890 0.00001
NM_013314.4(BLNK):c.926C>T (p.Pro309Leu) rs1177361907 0.00001
NM_014000.3(VCL):c.2490G>A (p.Lys830=) rs1158015710 0.00001
NM_014365.3(HSPB8):c.140C>G (p.Ser47Cys) rs1183371665 0.00001
NM_014804.3(KIAA0753):c.1891A>T (p.Lys631Ter) rs886038200 0.00001
NM_014845.6(FIG4):c.719G>C (p.Ser240Thr) rs772586786 0.00001
NM_014874.4(MFN2):c.1537A>G (p.Ile513Val) rs755657087 0.00001
NM_015046.7(SETX):c.1505G>A (p.Arg502Gln) rs750044197 0.00001
NM_015046.7(SETX):c.7103C>G (p.Pro2368Arg) rs1420833435 0.00001
NM_015713.5(RRM2B):c.431C>T (p.Thr144Ile) rs515726189 0.00001
NM_016239.4(MYO15A):c.8644G>A (p.Asp2882Asn) rs752873001 0.00001
NM_018706.7(DHTKD1):c.2234A>G (p.Tyr745Cys) rs754487112 0.00001
NM_018706.7(DHTKD1):c.536T>C (p.Phe179Ser) rs1374451398 0.00001
NM_020366.4(RPGRIP1):c.1965C>T (p.Thr655=) rs781676562 0.00001
NM_020366.4(RPGRIP1):c.708G>A (p.Glu236=) rs770273789 0.00001
NM_020529.3(NFKBIA):c.16G>A (p.Glu6Lys) rs923187160 0.00001
NM_020631.6(PLEKHG5):c.1367A>G (p.Asn456Ser) rs759384083 0.00001
NM_020800.3(IFT80):c.2200C>T (p.Arg734Ter) rs375941259 0.00001
NM_020975.6(RET):c.1890C>T (p.Cys630=) rs781145070 0.00001
NM_021939.4(FKBP10):c.1160G>A (p.Arg387Gln) rs782107514 0.00001
NM_021939.4(FKBP10):c.781G>A (p.Val261Met) rs781821453 0.00001
NM_022041.4(GAN):c.851+1G>A rs747291494 0.00001
NM_022489.4(INF2):c.2490-15C>A rs775068618 0.00001
NM_022489.4(INF2):c.720C>T (p.Asp240=) rs1243280313 0.00001
NM_024753.5(TTC21B):c.3791C>T (p.Thr1264Ile) rs569067100 0.00001
NM_025099.6(CTC1):c.598C>T (p.Pro200Ser) rs772395506 0.00001
NM_025114.4(CEP290):c.451C>T (p.Arg151Ter) rs757641323 0.00001
NM_030777.4(SLC2A10):c.180C>T (p.Leu60=) rs371988251 0.00001
NM_030973.4(MED25):c.395G>A (p.Arg132His) rs1441155267 0.00001
NM_031443.4(CCM2):c.1290C>T (p.Ser430=) rs778959221 0.00001
NM_032043.3(BRIP1):c.2594G>A (p.Arg865Gln) rs781609846 0.00001
NM_032119.4(ADGRV1):c.15285T>C (p.Thr5095=) rs745990374 0.00001
NM_032119.4(ADGRV1):c.17276A>G (p.Asn5759Ser) rs375445058 0.00001
NM_033056.4(PCDH15):c.5839C>T (p.Gln1947Ter) rs1457208099 0.00001
NM_053025.4(MYLK):c.1413C>G (p.Tyr471Ter) rs751748077 0.00001
NM_053025.4(MYLK):c.3462C>T (p.Ser1154=) rs768346816 0.00001
NM_133379.5(TTN):c.10546T>A (p.Leu3516Ile) rs139322919 0.00001
NM_144596.4(TTC8):c.711-16A>C rs747396066 0.00001
NM_144997.7(FLCN):c.779+1G>T rs758175953 0.00001
NM_147127.5(EVC2):c.451-7del rs1290670058 0.00001
NM_153676.4(USH1C):c.1020-7G>A rs1554960567 0.00001
NM_170707.4(LMNA):c.949G>A (p.Glu317Lys) rs56816490 0.00001
NM_174934.4(SCN4B):c.62-16G>A rs772762943 0.00001
NM_182925.5(FLT4):c.3108A>T (p.Arg1036Ser) rs776009030 0.00001
NM_182961.4(SYNE1):c.12693A>G (p.Gln4231=) rs1266975368 0.00001
NM_182961.4(SYNE1):c.25246+3G>A rs765849365 0.00001
NM_182961.4(SYNE1):c.25706T>C (p.Ile8569Thr) rs760698113 0.00001
NM_194454.3(KRIT1):c.262+68A>G rs1554536465 0.00001
NM_201253.3(CRB1):c.1995T>C (p.Asn665=) rs774597710 0.00001
NM_201253.3(CRB1):c.4074C>T (p.Ile1358=) rs753097155 0.00001
NC_000010.11:g.71645832del rs1589292855
NC_000011.10:g.5225390C>A rs1589890997
NC_000016.10:g.173755A>T rs2261869
NC_000016.10:g.177536T>G rs985858191
NC_012920.1(MT-CO2):m.7637G>A rs1556423314
NC_012920.1(MT-TS2):m.12236G>A rs28359170
NC_012920.1:m.9568T>C rs1556423691
NM_000018.4(ACADVL):c.1103A>C (p.Gln368Pro) rs776063244
NM_000018.4(ACADVL):c.495G>T (p.Glu165Asp) rs370169077
NM_000018.4(ACADVL):c.753-11T>G rs1555528341
NM_000018.4(ACADVL):c.756T>A (p.Asn252Lys) rs143233413
NM_000018.4(ACADVL):c.953C>T (p.Pro318Leu) rs201676770
NM_000020.3(ACVRL1):c.1046T>G (p.Leu349Arg) rs765895870
NM_000020.3(ACVRL1):c.1055C>A (p.Ala352Asp) rs1085307415
NM_000020.3(ACVRL1):c.1270C>T (p.Pro424Ser) rs1085307419
NM_000020.3(ACVRL1):c.1451G>A (p.Arg484Gln) rs863223408
NM_000020.3(ACVRL1):c.265T>C (p.Cys89Arg) rs1555152520
NM_000020.3(ACVRL1):c.271del (p.Asp91fs) rs1555152526
NM_000020.3(ACVRL1):c.304G>C (p.Val102Leu) rs1555152538
NM_000020.3(ACVRL1):c.375C>T (p.Pro125=) rs148975811
NM_000020.3(ACVRL1):c.525+1G>A rs1555152710
NM_000020.3(ACVRL1):c.590C>A (p.Thr197Lys) rs1555152796
NM_000020.3(ACVRL1):c.625+110_625+125del rs1555152839
NM_000020.3(ACVRL1):c.626-3C>G rs1555152899
NM_000020.3(ACVRL1):c.693CTC[1] (p.Ser233del) rs387906391
NM_000020.3(ACVRL1):c.698C>T (p.Ser233Leu) rs762773076
NM_000020.3(ACVRL1):c.743_744del (p.Thr248fs) rs1555152955
NM_000033.4(ABCD1):c.1082-33C>A rs782720354
NM_000033.4(ABCD1):c.1202G>A (p.Arg401Gln) rs128624219
NM_000033.4(ABCD1):c.1440del (p.Ile481fs) rs1557054318
NM_000033.4(ABCD1):c.1463TGG[2] (p.Val490del) rs1603234766
NM_000033.4(ABCD1):c.1658T>C (p.Leu553Pro) rs1557054849
NM_000033.4(ABCD1):c.1866-10G>A rs398123108
NM_000033.4(ABCD1):c.843C>A (p.Tyr281Ter) rs1557052555
NM_000038.6(APC):c.1370C>G (p.Ser457Ter) rs1060503333
NM_000038.6(APC):c.1626+3A>G rs1060503372
NM_000038.6(APC):c.1937T>G (p.Ile646Arg) rs1554083243
NM_000038.6(APC):c.2547_2550del (p.Asp849fs) rs398123118
NM_000038.6(APC):c.2626C>T (p.Arg876Ter) rs121913333
NM_000038.6(APC):c.3117A>C (p.Gly1039=) rs1580631098
NM_000038.6(APC):c.311C>G (p.Ser104Ter) rs74953290
NM_000038.6(APC):c.3146G>A (p.Trp1049Ter) rs876658667
NM_000038.6(APC):c.3523C>T (p.Gln1175Ter) rs1554085081
NM_000038.6(APC):c.426_427del (p.Leu143fs) rs587782557
NM_000038.6(APC):c.4732T>G (p.Cys1578Gly) rs138367627
NM_000038.6(APC):c.5265_5268delinsATCG (p.Ala1755_Ser1756=) rs1554086584
NM_000038.6(APC):c.532-1G>A rs1554072547
NM_000038.6(APC):c.6281_6282del (p.Pro2094fs) rs1554087314
NM_000038.6(APC):c.643C>T (p.Gln215Ter) rs137854577
NM_000038.6(APC):c.6900T>C (p.Ser2300=) rs202012533
NM_000038.6(APC):c.834+1G>A rs1554076225
NM_000051.3(ATM):c.3666A[5] (p.Asn1223Lysfs) rs1555092425
NM_000051.4(ATM):c.2921+1G>A rs587781558
NM_000051.4(ATM):c.5357T>C (p.Phe1786Ser) rs1555106375
NM_000051.4(ATM):c.6415_6416del (p.Glu2139fs) rs863225466
NM_000052.7(ATP7A):c.3295-6del rs1557237411
NM_000052.7(ATP7A):c.3337G>A (p.Val1113Ile) rs879254006
NM_000052.7(ATP7A):c.3902A>G (p.Asp1301Gly) rs1557238588
NM_000053.4(ATP7B):c.4290del (p.Ser1431fs) rs1555282185
NM_000059.4(BRCA2):c.1329del (p.Asn444fs) rs869320781
NM_000059.4(BRCA2):c.1545T>G (p.Thr515=) rs786202158
NM_000059.4(BRCA2):c.1719T>C (p.Ala573=) rs1450934154
NM_000059.4(BRCA2):c.1825C>G (p.Gln609Glu) rs80358472
NM_000059.4(BRCA2):c.1909+22del rs276174816
NM_000059.4(BRCA2):c.2103_2106del (p.Phe701fs) rs80359324
NM_000059.4(BRCA2):c.2558A>G (p.Gln853Arg) rs56245590
NM_000059.4(BRCA2):c.2674T>C (p.Phe892Leu) rs1593897508
NM_000059.4(BRCA2):c.2803G>C (p.Asp935His) rs28897716
NM_000059.4(BRCA2):c.2820A>G (p.Gln940=) rs771061558
NM_000059.4(BRCA2):c.3556G>A (p.Val1186Ile) rs587782420
NM_000059.4(BRCA2):c.3744_3747del (p.Ser1248fs) rs80359403
NM_000059.4(BRCA2):c.3858_3860del (p.Lys1286del) rs80359406
NM_000059.4(BRCA2):c.4111C>T (p.Gln1371Ter) rs80358659
NM_000059.4(BRCA2):c.4143AGA[1] (p.Glu1382del) rs80359432
NM_000059.4(BRCA2):c.4211_4215del (p.Thr1403_Ser1404insTer) rs786203340
NM_000059.4(BRCA2):c.4325C>A (p.Ser1442Ter) rs80358670
NM_000059.4(BRCA2):c.4464_4465del (p.His1488fs) rs397507720
NM_000059.4(BRCA2):c.4513A>G (p.Thr1505Ala) rs80358682
NM_000059.4(BRCA2):c.5035del (p.Thr1679fs) rs80359477
NM_000059.4(BRCA2):c.581G>A (p.Trp194Ter) rs80358809
NM_000059.4(BRCA2):c.6037A>T (p.Lys2013Ter) rs80358840
NM_000059.4(BRCA2):c.6405_6409del (p.Asn2135fs) rs80359584
NM_000059.4(BRCA2):c.6486_6489del (p.Lys2162fs) rs80359598
NM_000059.4(BRCA2):c.6760T>C (p.Phe2254Leu) rs1555284847
NM_000059.4(BRCA2):c.6938-25_6938-19del rs762815401
NM_000059.4(BRCA2):c.7188G>T (p.Leu2396Phe) rs587780871
NM_000059.4(BRCA2):c.7331A>T (p.Asp2444Val) rs431825352
NM_000059.4(BRCA2):c.7436-30T>G rs925773518
NM_000059.4(BRCA2):c.7681C>T (p.Gln2561Ter) rs80358994
NM_000059.4(BRCA2):c.7806-30T>A rs1555286796
NM_000059.4(BRCA2):c.7977-1G>C rs81002874
NM_000059.4(BRCA2):c.7988A>T (p.Glu2663Val) rs80359031
NM_000059.4(BRCA2):c.8695C>T (p.Gln2899Ter) rs397507411
NM_000059.4(BRCA2):c.8699A>T (p.Asp2900Val) rs398122712
NM_000059.4(BRCA2):c.8824G>A (p.Ala2942Thr) rs80359139
NM_000059.4(BRCA2):c.8837T>A (p.Leu2946Ter) rs431825371
NM_000059.4(BRCA2):c.8860T>C (p.Ser2954Pro) rs886041145
NM_000059.4(BRCA2):c.9501+8T>C rs1555289625
NM_000059.4(BRCA2):c.9521A>G (p.Asn3174Ser) rs1555289773
NM_000059.4(BRCA2):c.9824G>A (p.Ser3275Asn) rs864622720
NM_000061.3(BTK):c.1103-2A>G rs1603005659
NM_000061.3(BTK):c.1780G>A (p.Gly594Arg) rs1555977339
NM_000061.3(BTK):c.484_500del (p.Ala162fs) rs1603010333
NM_000061.3(BTK):c.863G>A (p.Arg288Gln) rs1555978277
NM_000071.3(CBS):c.1500G>A (p.Ser500=) rs1057522901
NM_000074.3(CD40LG):c.256G>A (p.Glu86Lys) rs1556136676
NM_000074.3(CD40LG):c.31C>T (p.Arg11Ter) rs193922135
NM_000074.3(CD40LG):c.542G>C (p.Arg181Pro) rs11575982
NM_000088.4(COL1A1):c.1157G>A (p.Gly386Glu) rs1555574123
NM_000088.4(COL1A1):c.1249C>T (p.Pro417Ser) rs72648327
NM_000088.4(COL1A1):c.1363G>A (p.Gly455Ser) rs72648339
NM_000088.4(COL1A1):c.1715G>C (p.Gly572Ala) rs1598295066
NM_000088.4(COL1A1):c.1720del (p.Arg574fs) rs1555573621
NM_000088.4(COL1A1):c.203TGT[1] (p.Leu69del) rs1598302040
NM_000088.4(COL1A1):c.2110G>A (p.Gly704Ser) rs67368147
NM_000088.4(COL1A1):c.2128-1G>C rs67543897
NM_000088.4(COL1A1):c.2298_2299inv (p.Gly767Ser)
NM_000088.4(COL1A1):c.2769TCCCCCTGG[1] (p.925PGP[1]) rs1555572458
NM_000088.4(COL1A1):c.2829+1G>A rs72653156
NM_000088.4(COL1A1):c.4316T>C (p.Ile1439Thr) rs1555571536
NM_000089.4(COL1A2):c.1396G>A (p.Gly466Ser) rs1584321194
NM_000089.4(COL1A2):c.1665+81del rs140284827
NM_000090.4(COL3A1):c.1459G>T (p.Ala487Ser) rs1553508027
NM_000090.4(COL3A1):c.2862A>T (p.Gly954=) rs1377418572
NM_000090.4(COL3A1):c.946G>T (p.Ala316Ser) rs958176385
NM_000093.5(COL5A1):c.1496G>C (p.Gly499Ala) rs1554792005
NM_000095.3(COMP):c.1000_1014del (p.Pro334_Asn338del) rs1601055900
NM_000095.3(COMP):c.1318G>C (p.Gly440Arg) rs1601053997
NM_000095.3(COMP):c.2088-4T>C rs1601049644
NM_000095.3(COMP):c.437G>A (p.Ser146Asn) rs1311065591
NM_000116.5(TAFAZZIN):c.483del (p.Met162fs) rs1557193815
NM_000132.4(F8):c.1350C>A (p.Tyr450Ter) rs1557281954
NM_000132.4(F8):c.1589A>G (p.Tyr530Cys) rs1557281265
NM_000132.4(F8):c.1601T>C (p.Val534Ala) rs1557281261
NM_000132.4(F8):c.1778T>A (p.Ile593Asn) rs1557280964
NM_000132.4(F8):c.270del (p.Leu90_Leu91insTer) rs1557285171
NM_000132.4(F8):c.323A>C (p.Lys108Thr) rs137852384
NM_000132.4(F8):c.5374-19del rs782086610
NM_000133.4(F9):c.1078T>A (p.Phe360Ile) rs1603267386
NM_000133.4(F9):c.1106_1113del (p.Leu369fs) rs1603267391
NM_000133.4(F9):c.1113C>A (p.Tyr371Ter) rs1603267398
NM_000133.4(F9):c.1120G>T (p.Val374Phe) rs137852271
NM_000133.4(F9):c.1135C>T (p.Arg379Ter) rs137852258
NM_000133.4(F9):c.1136G>A (p.Arg379Gln) rs137852259
NM_000133.4(F9):c.1144T>A (p.Cys382Ser) rs137852260
NM_000133.4(F9):c.1173T>A (p.Tyr391Ter) rs1603267411
NM_000133.4(F9):c.1174A>G (p.Asn392Asp) rs1603267412
NM_000133.4(F9):c.1186T>A (p.Cys396Ser) rs1603267420
NM_000133.4(F9):c.1241C>T (p.Pro414Leu) rs1603267443
NM_000133.4(F9):c.1256T>G (p.Val419Gly) rs137852280
NM_000133.4(F9):c.127C>T (p.Arg43Trp) rs1603264205
NM_000133.4(F9):c.128G>A (p.Arg43Gln) rs1275708479
NM_000133.4(F9):c.1290C>A (p.Ser430Arg) rs762229532
NM_000133.4(F9):c.1304G>A (p.Cys435Tyr) rs1385141619
NM_000133.4(F9):c.1325G>A (p.Gly442Glu) rs1603267474
NM_000133.4(F9):c.1361T>C (p.Ile454Thr) rs1603267486
NM_000133.4(F9):c.189A>C (p.Glu63Asp) rs762447016
NM_000133.4(F9):c.190T>C (p.Cys64Arg) rs137852224
NM_000133.4(F9):c.226G>A (p.Glu76Lys) rs1603264236
NM_000133.4(F9):c.252+5G>A rs1266788575
NM_000133.4(F9):c.260T>G (p.Phe87Cys) rs1603264299
NM_000133.4(F9):c.304T>C (p.Cys102Arg) rs1603264719
NM_000133.4(F9):c.344A>G (p.Tyr115Cys) rs1603264727
NM_000133.4(F9):c.38del (p.Gly13fs) rs1603263376
NM_000133.4(F9):c.392-1G>C rs1603265480
NM_000133.4(F9):c.416G>A (p.Gly139Asp) rs1216516070
NM_000133.4(F9):c.422G>A (p.Cys141Tyr) rs1351675410
NM_000133.4(F9):c.427C>T (p.Gln143Ter) rs1603265487
NM_000133.4(F9):c.484C>T (p.Arg162Ter) rs137852272
NM_000133.4(F9):c.509G>A (p.Cys170Tyr) rs1603265500
NM_000133.4(F9):c.520G>A (p.Val174Met) rs1603265504
NM_000133.4(F9):c.533G>T (p.Cys178Phe) rs1603265779
NM_000133.4(F9):c.613A>G (p.Thr205Ala) rs1603265805
NM_000133.4(F9):c.719G>A (p.Trp240Ter) rs1603265827
NM_000133.4(F9):c.720G>A (p.Trp240Ter) rs1603265830
NM_000133.4(F9):c.723+1G>A rs1603265832
NM_000133.4(F9):c.731T>C (p.Leu244Ser) rs1603267171
NM_000133.4(F9):c.803G>T (p.Cys268Phe) rs1603267195
NM_000133.4(F9):c.88+1G>T rs1603263397
NM_000133.4(F9):c.88+5_88+8del rs1603263399
NM_000133.4(F9):c.880C>T (p.Arg294Ter) rs137852248
NM_000133.4(F9):c.892C>T (p.Arg298Ter) rs137852250
NM_000133.4(F9):c.947T>C (p.Ile316Thr) rs1603267344
NM_000135.4(FANCA):c.1049G>T (p.Arg350Leu) rs199967286
NM_000135.4(FANCA):c.1245G>A (p.Met415Ile) rs1555561439
NM_000138.5(FBN1):c.1090C>T (p.Arg364Ter) rs794728165
NM_000138.5(FBN1):c.1175C>T (p.Pro392Leu) rs534127494
NM_000138.5(FBN1):c.1415= (p.Tyr472=) rs113936729
NM_000138.5(FBN1):c.1426T>G (p.Cys476Gly) rs794728326
NM_000138.5(FBN1):c.1532A>G (p.Tyr511Cys) rs1555400281
NM_000138.5(FBN1):c.1546C>T (p.Arg516Ter) rs113812345
NM_000138.5(FBN1):c.1585C>T (p.Arg529Ter) rs137854476
NM_000138.5(FBN1):c.1633C>T (p.Arg545Cys) rs730880099
NM_000138.5(FBN1):c.163G>T (p.Gly55Ter) rs1566944812
NM_000138.5(FBN1):c.1948C>T (p.Arg650Cys) rs193922185
NM_000138.5(FBN1):c.1961-2A>G rs1555399779
NM_000138.5(FBN1):c.2540-13C>G rs1057522904
NM_000138.5(FBN1):c.2581C>T (p.Arg861Ter) rs140583
NM_000138.5(FBN1):c.2645C>T (p.Ala882Val) rs794728195
NM_000138.5(FBN1):c.2858del (p.Ile953fs) rs1555398836
NM_000138.5(FBN1):c.3342TGA[1] (p.Asp1115del) rs1597563323
NM_000138.5(FBN1):c.364C>T (p.Arg122Cys) rs137854467
NM_000138.5(FBN1):c.3839_3846del (p.Asp1280fs) rs113603747
NM_000138.5(FBN1):c.3856del (p.Asp1285_Leu1286insTer) rs1555398170
NM_000138.5(FBN1):c.4159T>G (p.Tyr1387Asp) rs1555397656
NM_000138.5(FBN1):c.4582+3A>T rs777845323
NM_000138.5(FBN1):c.4816+2T>C rs1597547226
NM_000138.5(FBN1):c.4C>G (p.Arg2Gly) rs1597652545
NM_000138.5(FBN1):c.503G>A (p.Cys168Tyr) rs1555404803
NM_000138.5(FBN1):c.5824T>C (p.Cys1942Arg) rs1555395762
NM_000138.5(FBN1):c.5874C>A (p.Cys1958Ter) rs1555395750
NM_000138.5(FBN1):c.6071G>A (p.Cys2024Tyr) rs1597529826
NM_000138.5(FBN1):c.6087C>A (p.Cys2029Ter) rs1555395475
NM_000138.5(FBN1):c.6219C>G (p.Pro2073=) rs771786623
NM_000138.5(FBN1):c.643C>T (p.Arg215Ter) rs111687884
NM_000138.5(FBN1):c.6658C>T (p.Arg2220Ter) rs113001196
NM_000138.5(FBN1):c.7014C>T (p.Tyr2338=) rs1555394582
NM_000138.5(FBN1):c.7032_7054del (p.Asn2346fs) rs1597518038
NM_000138.5(FBN1):c.7399C>T (p.Gln2467Ter) rs1566892727
NM_000138.5(FBN1):c.7699+5G>A rs1555394187
NM_000138.5(FBN1):c.7700-9C>G rs772261791
NM_000138.5(FBN1):c.7817_7819del (p.Val2606del) rs1555394136
NM_000138.5(FBN1):c.8080C>T (p.Arg2694Ter) rs200309328
NM_000138.5(FBN1):c.8480A>C (p.Tyr2827Ser) rs794728287
NM_000142.5(FGFR3):c.1111A>T (p.Ser371Cys) rs121913484
NM_000142.5(FGFR3):c.1657G>A (p.Val553Met) rs199544087
NM_000155.4(GALT):c.1070_1071del (p.Arg357fs) rs1554709579
NM_000155.4(GALT):c.385A>T (p.Met129Leu) rs193922248
NM_000155.4(GALT):c.452T>C (p.Val151Ala) rs111033701
NM_000155.4(GALT):c.524G>A (p.Gly175Asp) rs111033718
NM_000155.4(GALT):c.556C>A (p.His186Asn) rs111033725
NM_000155.4(GALT):c.748C>A (p.Pro250Thr) rs111033759
NM_000155.4(GALT):c.812A>G (p.Glu271Gly) rs111033765
NM_000155.4(GALT):c.904+3G>T rs1554709450
NM_000166.6(GJB1):c.52A>G (p.Thr18Ala) rs1555937012
NM_000179.3(MSH6):c.1241G>A (p.Trp414Ter) rs587779914
NM_000179.3(MSH6):c.1795G>T (p.Gly599Ter) rs756043669
NM_000179.3(MSH6):c.2161A>C (p.Arg721=) rs537604099
NM_000179.3(MSH6):c.2429del (p.Glu810fs) rs1572727176
NM_000179.3(MSH6):c.3270G>C (p.Glu1090Asp) rs876660165
NM_000179.3(MSH6):c.3478G>T (p.Val1160Phe) rs376799914
NM_000179.3(MSH6):c.3586G>T (p.Glu1196Ter) rs75095286
NM_000180.4(GUCY2D):c.2513G>C (p.Arg838Pro) rs61750173
NM_000188.3(HK1):c.495+12C>T rs557994641
NM_000208.4(INSR):c.2774T>C (p.Ile925Thr) rs1599881881
NM_000208.4(INSR):c.2842+33G>A rs35169098
NM_000208.4(INSR):c.2843-5T>G rs1555736265
NM_000208.4(INSR):c.3668G>A (p.Gly1223Asp) rs1555734564
NM_000208.4(INSR):c.421C>T (p.Arg141Trp) rs1555689823
NM_000208.4(INSR):c.728G>A (p.Cys243Tyr) rs911809758
NM_000214.3(JAG1):c.772C>G (p.Gln258Glu) rs1261155576
NM_000218.3(KCNQ1):c.1126C>G (p.Gln376Glu) rs1564825414
NM_000218.3(KCNQ1):c.642C>A (p.Cys214Ter) rs775479779
NM_000218.3(KCNQ1):c.805G>A (p.Gly269Ser) rs120074193
NM_000238.4(KCNH2):c.1418C>T (p.Thr473Ile) rs199472905
NM_000238.4(KCNH2):c.1557+1G>C rs886039043
NM_000243.3(MEFV):c.1461G>T (p.Val487=) rs1370559441
NM_000243.3(MEFV):c.1759+11C>T rs370349451
NM_000243.3(MEFV):c.2085G>C (p.Lys695Asn) rs104895208
NM_000243.3(MEFV):c.2150G>T (p.Arg717Leu) rs545517350
NM_000243.3(MEFV):c.2246C>G (p.Ser749Cys) rs104895171
NM_000243.3(MEFV):c.250G>A (p.Glu84Lys) rs150819742
NM_000243.3(MEFV):c.322A>C (p.Ser108Arg) rs104895103
NM_000243.3(MEFV):c.585G>A (p.Glu195=) rs200766991
NM_000243.3(MEFV):c.641A>C (p.Gln214Pro) rs1596358209
NM_000243.3(MEFV):c.758C>A (p.Ala253Glu) rs768336098
NM_000245.4(MET):c.1528-39_1528-38delinsAT rs1554391208
NM_000249.4(MLH1):c.1839G>T (p.Glu613Asp) rs876658919
NM_000249.4(MLH1):c.207+2T>C rs267607722
NM_000249.4(MLH1):c.790+10A>C rs182733777
NM_000251.3(MSH2):c.142G>T (p.Glu48Ter) rs63750615
NM_000251.3(MSH2):c.160G>T (p.Ala54Ser) rs749212640
NM_000251.3(MSH2):c.248T>C (p.Met83Thr) rs1573436408
NM_000251.3(MSH2):c.2633_2634del (p.Glu878fs) rs63751618
NM_000251.3(MSH2):c.2634+1G>A rs267608019
NM_000251.3(MSH2):c.263_264del (p.Phe88fs) rs267607920
NM_000251.3(MSH2):c.646-11T>C rs879254124
NM_000251.3(MSH2):c.811_814del (p.Ser271fs) rs587779185
NM_000255.4(MMUT):c.1889G>C (p.Gly630Ala) rs143023066
NM_000255.4(MMUT):c.567T>G (p.Asn189Lys) rs1561959114
NM_000256.3(MYBPC3):c.2149-1G>A rs727504334
NM_000256.3(MYBPC3):c.3764CCA[1] (p.Thr1256del) rs397516040
NM_000256.3(MYBPC3):c.3815-14C>T rs1003286810
NM_000257.4(MYH7):c.1396G>C (p.Glu466Gln) rs4981473
NM_000257.4(MYH7):c.2791G>T (p.Glu931Ter) rs1131691514
NM_000257.4(MYH7):c.740T>G (p.Phe247Cys) rs730880922
NM_000260.4(MYO7A):c.689C>T (p.Ala230Val) rs797044512
NM_000264.5(PTCH1):c.3804+28G>A rs200724772
NM_000288.4(PEX7):c.408T>G (p.Thr136=) rs776675774
NM_000297.4(PKD2):c.1766C>A (p.Thr589Asn) rs1553926904
NM_000297.4(PKD2):c.2143C>A (p.Leu715Ile) rs943891159
NM_000297.4(PKD2):c.2159del (p.Asn720fs) rs757757289
NM_000297.4(PKD2):c.2523-1G>A rs1553928728
NM_000297.4(PKD2):c.481_502del (p.Gly161fs) rs1553923513
NM_000297.4(PKD2):c.749C>G (p.Thr250Ser) rs1341016726
NM_000298.6(PKLR):c.100+407G>T rs746180822
NM_000298.6(PKLR):c.169C>T (p.Gln57Ter) rs772567442
NM_000298.6(PKLR):c.302T>C (p.Val101Ala) rs1572057758
NM_000298.6(PKLR):c.379C>G (p.His127Asp) rs1572057427
NM_000298.6(PKLR):c.380A>G (p.His127Arg) rs1572057410
NM_000298.6(PKLR):c.507+1G>A rs1572057140
NM_000314.8(PTEN):c.1027-2A>C rs1085308041
NM_000314.8(PTEN):c.165-24TTTG[2] rs786204877
NM_000314.8(PTEN):c.166T>A (p.Phe56Ile) rs1589640376
NM_000314.8(PTEN):c.254-62A>C rs1052364593
NM_000314.8(PTEN):c.49C>T (p.Gln17Ter) rs786204910
NM_000314.8(PTEN):c.634+5G>C rs138336847
NM_000314.8(PTEN):c.635-1G>T rs876661024
NM_000314.8(PTEN):c.705del (p.Asp236fs) rs1554825202
NM_000314.8(PTEN):c.721T>C (p.Phe241Leu) rs1554825207
NM_000314.8(PTEN):c.802-3del rs34003473
NM_000314.8(PTEN):c.802-51_802-14del rs557364463
NM_000314.8(PTEN):c.938del (p.Lys313fs) rs1554825571
NM_000316.3(PTH1R):c.1320G>A (p.Gln440=) rs1575526100
NM_000335.5(SCN5A):c.1126C>T (p.Arg376Cys) rs199473100
NM_000335.5(SCN5A):c.1657G>T (p.Glu553Ter) rs1207394743
NM_000342.4(SLC4A1):c.1469G>A (p.Arg490His) rs1598299485
NM_000342.4(SLC4A1):c.1490T>C (p.Leu497Pro) rs1598299453
NM_000342.4(SLC4A1):c.243G>A (p.Trp81Ter) rs1598302037
NM_000346.4(SOX9):c.1099_1100delinsG (p.Pro367fs) rs1555629374
NM_000346.4(SOX9):c.1312_1330del (p.Ser438fs) rs1598176962
NM_000350.3(ABCA4):c.1555-10CT[2] rs1280974868
NM_000350.3(ABCA4):c.2210T>A (p.Leu737Ter) rs1570387558
NM_000350.3(ABCA4):c.2912C>A (p.Thr971Asn) rs61749450
NM_000355.4(TCN2):c.766_767dup (p.Met258fs) rs1555895069
NM_000368.5(TSC1):c.-80-10T>C rs886063625
NM_000371.4(TTR):c.201-27C>A rs1315540051
NM_000371.4(TTR):c.221A>G (p.Glu74Gly) rs1598845097
NM_000371.4(TTR):c.290C>A (p.Ser97Tyr) rs121918071
NM_000371.4(TTR):c.379A>G (p.Ile127Val) rs121918089
NM_000371.4(TTR):c.47T>A (p.Phe16Tyr) rs1598843637
NM_000371.4(TTR):c.95T>C (p.Leu32Pro) rs121918094
NM_000393.5(COL5A2):c.3309+6G>T rs775681859
NM_000393.5(COL5A2):c.3309+7A>G rs1553513652
NM_000398.7(CYB5R3):c.349A>G (p.Thr117Ala) rs762291523
NM_000399.5(EGR2):c.1226G>A (p.Arg409Gln) rs864622273
NM_000402.4(G6PD):c.1268G>A (p.Arg423His) rs137852316
NM_000402.4(G6PD):c.577G>A (p.Gly193Ser) rs137852314
NM_000414.4(HSD17B4):c.1369A>T (p.Asn457Tyr) rs137853097
NM_000431.4(MVK):c.677+12del rs774948892
NM_000432.4(MYL2):c.59T>A (p.Met20Lys) rs113167834
NM_000435.3(NOTCH3):c.1364G>A (p.Cys455Tyr) rs886041513
NM_000435.3(NOTCH3):c.316T>G (p.Cys106Gly) rs1555729589
NM_000435.3(NOTCH3):c.436T>C (p.Cys146Arg) rs1555729510
NM_000435.3(NOTCH3):c.4736+23G>C rs1599374263
NM_000435.3(NOTCH3):c.601T>G (p.Cys201Gly) rs1599394654
NM_000441.2(SLC26A4):c.1382T>A (p.Met461Lys) rs1554359675
NM_000441.2(SLC26A4):c.1670G>A (p.Gly557Asp) rs939755872
NM_000441.2(SLC26A4):c.39C>A (p.Leu13=) rs1562817215
NM_000441.2(SLC26A4):c.590G>A (p.Gly197Glu) rs1554354860
NM_000441.2(SLC26A4):c.765+2T>C rs397516432
NM_000455.5(STK11):c.772del (p.Asp258fs) rs1599927589
NM_000465.4(BARD1):c.216-9A>T rs759575504
NM_000478.6(ALPL):c.978CTT[2] (p.Phe328del) rs753338851
NM_000489.6(ATRX):c.5540A>T (p.Tyr1847Phe) rs1057521987
NM_000492.3(CFTR):c.1210-17_1210-12del rs3832534
NM_000492.4(CFTR):c.1116+35T>C rs1584789546
NM_000492.4(CFTR):c.1210-2A>C rs397508179
NM_000492.4(CFTR):c.1210-6T>A rs763339686
NM_000492.4(CFTR):c.1235C>T (p.Ala412Val) rs1554382604
NM_000492.4(CFTR):c.1340del (p.Lys447fs) rs397508192
NM_000492.4(CFTR):c.1367T>C (p.Val456Ala) rs193922500
NM_000492.4(CFTR):c.1393-1G>A rs397508200
NM_000492.4(CFTR):c.1407G>A (p.Met469Ile) rs143218779
NM_000492.4(CFTR):c.1472G>T (p.Cys491Phe) rs778205742
NM_000492.4(CFTR):c.1766+1G>C rs121908748
NM_000492.4(CFTR):c.1783A>G (p.Met595Val) rs750140050
NM_000492.4(CFTR):c.1986_1989del (p.Thr663fs) rs397508325
NM_000492.4(CFTR):c.2052del (p.Lys684fs) rs121908746
NM_000492.4(CFTR):c.2252G>T (p.Arg751Leu) rs397508357
NM_000492.4(CFTR):c.2428A>T (p.Arg810Ter) rs377447726
NM_000492.4(CFTR):c.262_263del (p.Leu88fs) rs121908769
NM_000492.4(CFTR):c.2684G>A (p.Ser895Asn) rs201864483
NM_000492.4(CFTR):c.2684G>C (p.Ser895Thr) rs201864483
NM_000492.4(CFTR):c.3131A>G (p.Glu1044Gly) rs397508501
NM_000492.4(CFTR):c.3181G>C (p.Gly1061Arg) rs142394380
NM_000492.4(CFTR):c.328G>T (p.Asp110Tyr) rs113993958
NM_000492.4(CFTR):c.3302T>G (p.Met1101Arg) rs36210737
NM_000492.4(CFTR):c.3368-30G>C rs1584824127
NM_000492.4(CFTR):c.3628A>G (p.Met1210Val) rs151264397
NM_000492.4(CFTR):c.3848G>A (p.Arg1283Lys) rs77902683
NM_000492.4(CFTR):c.3896C>T (p.Thr1299Ile) rs397508634
NM_000492.4(CFTR):c.3945A>G (p.Ile1315Met) rs1554396417
NM_000492.4(CFTR):c.4243-35del rs193922527
NM_000492.4(CFTR):c.4251del (p.Glu1418fs) rs397508706
NM_000492.4(CFTR):c.4423G>T (p.Val1475Leu) rs369464175
NM_000492.4(CFTR):c.44T>C (p.Leu15Pro) rs1562876459
NM_000492.4(CFTR):c.464C>G (p.Ala155Gly) rs1554379882
NM_000492.4(CFTR):c.647G>A (p.Trp216Ter) rs397508775
NM_000492.4(CFTR):c.708del (p.Gln237fs) rs1299250440
NM_000492.4(CFTR):c.742A>G (p.Arg248Gly) rs1554380515
NM_000492.4(CFTR):c.744-33GATT[5] rs1805171
NM_000492.4(CFTR):c.744-34_744-31del rs768226435
NM_000492.4(CFTR):c.778G>A (p.Val260Met) rs1390016549
NM_000517.5(HBA2):c.-41C>G rs1188584832
NM_000517.6(HBA2):c.124A>G (p.Thr42Ala) rs281860654
NM_000517.6(HBA2):c.148A>C (p.Ser50Arg) rs1596569718
NM_000517.6(HBA2):c.180C>T (p.Gly60=) rs1596569781
NM_000517.6(HBA2):c.224A>G (p.Asp75Gly) rs281864856
NM_000517.6(HBA2):c.237C>G (p.Asn79Lys) rs281860607
NM_000517.6(HBA2):c.24G>T (p.Lys8Asn) rs281860604
NM_000517.6(HBA2):c.271A>G (p.Lys91Glu) rs63750093
NM_000517.6(HBA2):c.344C>T (p.Pro115Leu) rs267607269
NM_000518.4(HBB):c.-80T>A rs33980857
NM_000518.4(HBB):c.157G>C (p.Asp53His) rs33961886
NM_000518.4(HBB):c.238G>A (p.Asp80Asn) rs33990858
NM_000518.4(HBB):c.238G>C (p.Asp80His) rs33990858
NM_000518.4(HBB):c.275T>C (p.Leu92Pro) rs33917785
NM_000518.4(HBB):c.29C>G (p.Ser10Cys) rs33918131
NM_000518.4(HBB):c.371C>T (p.Thr124Ile) rs33935383
NM_000518.4(HBB):c.374C>T (p.Pro125Leu) rs33983276
NM_000518.4(HBB):c.422C>A (p.Ala141Asp) rs33927093
NM_000518.5(HBB):c.*78T>C rs1554917435
NM_000518.5(HBB):c.113G>A (p.Trp38Ter) rs33991059
NM_000518.5(HBB):c.180G>C (p.Lys60Asn) rs34621955
NM_000518.5(HBB):c.235del (p.Leu79fs) rs281865475
NM_000518.5(HBB):c.307A>G (p.Asn103Asp) rs33927739
NM_000518.5(HBB):c.314G>C (p.Arg105Thr) rs33911434
NM_000518.5(HBB):c.315G>T (p.Arg105Ser) rs33914944
NM_000518.5(HBB):c.371_378del (p.Thr124fs) rs1554917561
NM_000518.5(HBB):c.383A>C (p.Gln128Pro) rs33910569
NM_000518.5(HBB):c.394C>A (p.Gln132Lys) rs33910209
NM_000518.5(HBB):c.3G>A (p.Met1Ile) rs33930702
NM_000518.5(HBB):c.431A>C (p.His144Pro) rs33918338
NM_000518.5(HBB):c.59A>G (p.Asn20Ser) rs33972047
NM_000518.5(HBB):c.84C>T (p.Ala28=) rs748296717
NM_000518.5(HBB):c.92+2T>G rs33956879
NM_000520.6(HEXA):c.1168C>T (p.Gln390Ter) rs988192535
NM_000531.6(OTC):c.167T>C (p.Met56Thr) rs72554320
NM_000531.6(OTC):c.830G>A (p.Arg277Gln) rs66724222
NM_000535.7(PMS2):c.1185C>T (p.Pro395=) rs1562636721
NM_000535.7(PMS2):c.1939A>T (p.Lys647Ter) rs201451115
NM_000535.7(PMS2):c.2117del (p.Lys706fs) rs587782704
NM_000535.7(PMS2):c.2445+1G>T rs876661113
NM_000535.7(PMS2):c.827G>A (p.Cys276Tyr) rs1554300806
NM_000539.3(RHO):c.1021G>A (p.Glu341Lys) rs142322202
NM_000539.3(RHO):c.563G>A (p.Gly188Glu) rs1424131846
NM_000546.6(TP53):c.336CTT[1] (p.Phe113del) rs764486868
NM_000546.6(TP53):c.416del (p.Lys139fs) rs1597371266
NM_000546.6(TP53):c.638G>C (p.Arg213Pro) rs587778720
NM_000546.6(TP53):c.773A>C (p.Glu258Ala) rs1060501201
NM_000546.6(TP53):c.790del (p.Leu264fs) rs1060501194
NM_000546.6(TP53):c.845G>A (p.Arg282Gln) rs730882008
NM_000546.6(TP53):c.96+41_97-54del rs59758982
NM_000548.5(TSC2):c.1889G>A (p.Gly630Asp) rs1057520642
NM_000548.5(TSC2):c.2824G>T (p.Glu942Ter) rs45517270
NM_000548.5(TSC2):c.5140C>T (p.Gln1714Ter) rs45517396
NM_000548.5(TSC2):c.5303T>A (p.Val1768Glu) rs1171556696
NM_000551.4(VHL):c.477del (p.Glu160fs) rs730882020
NM_000551.4(VHL):c.500G>A (p.Arg167Gln) rs5030821
NM_000552.5(VWF):c.2098G>T (p.Asp700Tyr) rs377672051
NM_000552.5(VWF):c.2187-30G>C rs1591882446
NM_000552.5(VWF):c.3377G>A (p.Cys1126Tyr) rs1591866134
NM_000552.5(VWF):c.3917G>C (p.Arg1306Pro) rs61749385
NM_000552.5(VWF):c.3946G>A (p.Val1316Met) rs61749397
NM_000552.5(VWF):c.4382C>T (p.Ala1461Val) rs61750089
NM_000552.5(VWF):c.4496T>A (p.Val1499Glu) rs1555194979
NM_000552.5(VWF):c.4645G>A (p.Glu1549Lys) rs267607347
NM_000552.5(VWF):c.4789C>T (p.Arg1597Trp) rs61750117
NM_000558.3(HBA1):c.287C>T (p.Pro96Leu) rs33931314
NM_000558.5(HBA1):c.19_21del (p.Asp7del) rs281865565
NM_000558.5(HBA1):c.45G>A (p.Trp15Ter) rs1596573335
NM_000637.5(GSR):c.149C>A (p.Pro50Gln) rs1586077925
NM_000637.5(GSR):c.334-5del rs74518074
NM_000637.5(GSR):c.334-6_334-5del rs74518074
NM_000891.3(KCNJ2):c.199C>T (p.Arg67Trp) rs104894580
NM_000922.4(PDE3B):c.476C>T (p.Ala159Val) rs1590023524
NM_000942.5(PPIB):c.104A>G (p.Glu35Gly) rs752960312
NM_001005242.3(PKP2):c.1114G>C (p.Ala372Pro) rs200586695
NM_001005361.3(DNM2):c.2589A>C (p.Pro863=) rs1555717448
NM_001005361.3(DNM2):c.471G>T (p.Lys157Asn) rs757708760
NM_001009944.3(PKD1):c.11099G>A (p.Arg3700His) rs141668965
NM_001009944.3(PKD1):c.11274_11275del (p.Tyr3759fs) rs1555446105
NM_001009944.3(PKD1):c.11538-2del rs1555445595
NM_001009944.3(PKD1):c.11606T>C (p.Leu3869Pro) rs1555445569
NM_001009944.3(PKD1):c.11713-1G>A rs867092741
NM_001009944.3(PKD1):c.11713-29T>A rs1555445308
NM_001009944.3(PKD1):c.11713-31C>T rs1318395645
NM_001009944.3(PKD1):c.11912del (p.Pro3971fs) rs1555445123
NM_001009944.3(PKD1):c.12000C>G (p.Val4000=) rs1555445055
NM_001009944.3(PKD1):c.12643C>T (p.Leu4215Phe) rs757068311
NM_001009944.3(PKD1):c.1307_1308del (p.Cys436fs) rs1555458891
NM_001009944.3(PKD1):c.1384A>G (p.Arg462Gly) rs1555458865
NM_001009944.3(PKD1):c.2152C>T (p.Gln718Ter) rs1555458032
NM_001009944.3(PKD1):c.2870T>C (p.Val957Ala) rs1555457473
NM_001009944.3(PKD1):c.2902A>G (p.Thr968Ala) rs1555457457
NM_001009944.3(PKD1):c.2932C>T (p.Gln978Ter) rs1555457446
NM_001009944.3(PKD1):c.2933A>G (p.Gln978Arg) rs1555457445
NM_001009944.3(PKD1):c.2942T>C (p.Val981Ala) rs1555457440
NM_001009944.3(PKD1):c.3285C>A (p.Tyr1095Ter) rs558648661
NM_001009944.3(PKD1):c.4191G>A (p.Glu1397=) rs1356967038
NM_001009944.3(PKD1):c.4217C>T (p.Pro1406Leu) rs1258742494
NM_001009944.3(PKD1):c.4258G>T (p.Glu1420Ter) rs1555456139
NM_001009944.3(PKD1):c.5803C>T (p.Arg1935Cys) rs776113903
NM_001009944.3(PKD1):c.6487C>T (p.Arg2163Ter) rs1555454411
NM_001009944.3(PKD1):c.6583_6589del (p.Cys2195fs) rs1555454353
NM_001009944.3(PKD1):c.7145G>T (p.Ser2382Ile) rs1555453383
NM_001009944.3(PKD1):c.7353G>T (p.Leu2451=) rs1342647727
NM_001009944.3(PKD1):c.8777A>G (p.Tyr2926Cys) rs1229120097
NM_001009944.3(PKD1):c.8905C>T (p.Gln2969Ter) rs200520583
NM_001009944.3(PKD1):c.9924-9_9924-7del rs892390487
NM_001009944.3(PKD1):c.9994del (p.Val3332fs) rs1555449235
NM_001011.4(RPS7):c.539T>A (p.Leu180His) rs1553343210
NM_001018.5(RPS15):c.140G>C (p.Arg47Pro) rs201657403
NM_001018005.2(TPM1):c.240+3A>C rs1555403436
NM_001018005.2(TPM1):c.508G>A (p.Val170Ile) rs1555409095
NM_001018113.3(FANCB):c.1327-3del rs202067682
NM_001018115.3(FANCD2):c.1170C>T (p.Ser390=) rs112887807
NM_001018115.3(FANCD2):c.1179T>C (p.Thr393=) rs72492998
NM_001018115.3(FANCD2):c.1275C>T (p.Tyr425=) rs764447374
NM_001018115.3(FANCD2):c.1401G>A (p.Thr467=) rs12330369
NM_001018115.3(FANCD2):c.1413+3A>G rs62245508
NM_001018115.3(FANCD2):c.2022-5C>T rs4019784
NM_001024630.4(RUNX2):c.886C>T (p.Pro296Ser) rs1554397657
NM_001033081.3(MYCL):c.-419C>G rs1570189511
NM_001034850.3(RETREG1):c.1450AAG[1] (p.Lys485del) rs758081460
NM_001035.3(RYR2):c.1293-18G>A rs1572400333
NM_001035.3(RYR2):c.3565G>A (p.Glu1189Lys) rs794728732
NM_001035.3(RYR2):c.4063G>T (p.Val1355Leu) rs1572999842
NM_001035.3(RYR2):c.4361A>G (p.Asp1454Gly) rs752212017
NM_001042492.3(NF1):c.1009G>T (p.Glu337Ter) rs747241884
NM_001042492.3(NF1):c.1094C>G (p.Ser365Ter) rs864622107
NM_001042492.3(NF1):c.1178del (p.His393fs) rs1555611037
NM_001042492.3(NF1):c.1185+2T>G rs1555611043
NM_001042492.3(NF1):c.1186-13del rs763903212
NM_001042492.3(NF1):c.1261-30T>G rs1232901516
NM_001042492.3(NF1):c.1532del (p.Pro511fs) rs1597703352
NM_001042492.3(NF1):c.1783_1784del (p.Glu595fs) rs786204059
NM_001042492.3(NF1):c.1885G>A (p.Gly629Arg) rs199474738
NM_001042492.3(NF1):c.2014G>A (p.Gly672Arg) rs786202632
NM_001042492.3(NF1):c.204+1G>A rs886039548
NM_001042492.3(NF1):c.2077_2078del (p.Met693fs) rs1555613795
NM_001042492.3(NF1):c.2288T>C (p.Leu763Pro) rs199474762
NM_001042492.3(NF1):c.2325+1G>A rs1555613933
NM_001042492.3(NF1):c.2331G>A (p.Trp777Ter) rs1555613983
NM_001042492.3(NF1):c.2407C>T (p.Gln803Ter) rs1567848213
NM_001042492.3(NF1):c.2509T>C (p.Trp837Arg) rs587781747
NM_001042492.3(NF1):c.2540T>C (p.Leu847Pro) rs199474747
NM_001042492.3(NF1):c.2553C>A (p.Cys851Ter) rs2230852
NM_001042492.3(NF1):c.2674del (p.Ser892fs) rs1555614296
NM_001042492.3(NF1):c.3076A>T (p.Arg1026Ter) rs1555614529
NM_001042492.3(NF1):c.3118A>G (p.Lys1040Glu) rs1555614619
NM_001042492.3(NF1):c.334C>T (p.Gln112Ter) rs1555606061
NM_001042492.3(NF1):c.338del (p.Leu113fs) rs1597635740
NM_001042492.3(NF1):c.3467A>G (p.Asn1156Ser) rs199474764
NM_001042492.3(NF1):c.3537del (p.Phe1179fs) rs1555615026
NM_001042492.3(NF1):c.3566A>G (p.Gln1189Arg) rs752039618
NM_001042492.3(NF1):c.3665del (p.Pro1222fs) rs867391752
NM_001042492.3(NF1):c.3668T>G (p.Ile1223Arg) rs1555615091
NM_001042492.3(NF1):c.3757_3797del (p.Leu1253fs) rs1555615447
NM_001042492.3(NF1):c.3790G>T (p.Glu1264Ter) rs863224660
NM_001042492.3(NF1):c.3826C>G (p.Arg1276Gly) rs199474742
NM_001042492.3(NF1):c.3974+1G>A rs1567852849
NM_001042492.3(NF1):c.4015_4028del (p.Asn1338_Leu1339insTer) rs1597735056
NM_001042492.3(NF1):c.4195C>T (p.Gln1399Ter) rs1131691072
NM_001042492.3(NF1):c.4577+1G>A rs1279529138
NM_001042492.3(NF1):c.4669del (p.Thr1557fs) rs1597748891
NM_001042492.3(NF1):c.4700C>G (p.Ser1567Ter) rs1555619051
NM_001042492.3(NF1):c.4724+1G>A rs1555619056
NM_001042492.3(NF1):c.4892T>G (p.Leu1631Ter) rs1555533292
NM_001042492.3(NF1):c.5333_5334del (p.Phe1778fs) rs1555533566
NM_001042492.3(NF1):c.551del (p.Asn184fs) rs1555607102
NM_001042492.3(NF1):c.5609+5G>T rs1597832498
NM_001042492.3(NF1):c.5765_5766del (p.Leu1922fs) rs1555533880
NM_001042492.3(NF1):c.5780del (p.Leu1927fs) rs1135402880
NM_001042492.3(NF1):c.61-14del rs376172637
NM_001042492.3(NF1):c.61-4del rs551568608
NM_001042492.3(NF1):c.6148-28del rs398100472
NM_001042492.3(NF1):c.6246del (p.Arg2083fs) rs1597842843
NM_001042492.3(NF1):c.6373_6376del (p.Leu2125fs) rs1555534755
NM_001042492.3(NF1):c.6377T>A (p.Val2126Asp) rs1597843145
NM_001042492.3(NF1):c.654+1G>A rs1060500245
NM_001042492.3(NF1):c.6583_6586del (p.Glu2195fs) rs1131691084
NM_001042492.3(NF1):c.6852_6855del (p.Tyr2285fs) rs1555535032
NM_001042492.3(NF1):c.7040del (p.Ser2347fs) rs1597848220
NM_001042492.3(NF1):c.7117C>T (p.Gln2373Ter) rs1555535417
NM_001042492.3(NF1):c.7190-33TTGT[3] rs149197458
NM_001042492.3(NF1):c.7190-33TTGT[5] rs149197458
NM_001042492.3(NF1):c.7288G>T (p.Glu2430Ter) rs1555536035
NM_001042492.3(NF1):c.730+32del rs71142032
NM_001042492.3(NF1):c.731-1_731del rs1555608925
NM_001042492.3(NF1):c.7348C>T (p.Arg2450Ter) rs786202457
NM_001042492.3(NF1):c.7457+21A>G rs17881641
NM_001042492.3(NF1):c.7474C>T (p.Gln2492Ter) rs1555536340
NM_001042492.3(NF1):c.7549C>T (p.Arg2517Ter) rs866445127
NM_001042492.3(NF1):c.7895A>G (p.Asp2632Gly) rs1597866846
NM_001042492.3(NF1):c.7970+1G>A rs1555536773
NM_001042492.3(NF1):c.7970+7A>G rs1597867052
NM_001042492.3(NF1):c.801G>A (p.Trp267Ter) rs1064794273
NM_001042492.3(NF1):c.8161-34del rs528599051
NM_001042492.3(NF1):c.889-25_889-21del rs17881173
NM_001042492.3(NF1):c.889-2A>G rs878853922
NM_001042492.3(NF1):c.910C>T (p.Arg304Ter) rs786203950
NM_001042702.5(PJVK):c.868_870del (p.Lys290del) rs1575125659
NM_001048174.2(MUTYH):c.461G>A (p.Arg154His) rs143353451
NM_001048174.2(MUTYH):c.606+21C>A rs148552450
NM_001065.4(TNFRSF1A):c.1217C>T (p.Thr406Ile) rs1592043182
NM_001065.4(TNFRSF1A):c.212A>T (p.Asp71Val) rs1592047919
NM_001065.4(TNFRSF1A):c.251G>A (p.Cys84Tyr) rs104895224
NM_001065.4(TNFRSF1A):c.305G>A (p.Cys102Tyr) rs1555108112
NM_001065.4(TNFRSF1A):c.552-16C>A rs1592045411
NM_001065.4(TNFRSF1A):c.92T>G (p.Val31Gly) rs763940329
NM_001081.4(CUBN):c.2496dup (p.Pro833fs) rs1554816715
NM_001084.5(PLOD3):c.1006-5C>T rs1554378150
NM_001100.4(ACTA1):c.37G>A (p.Asp13Asn) rs1571894217
NM_001103.4(ACTN2):c.697+1G>A rs113669376
NM_001110556.2(FLNA):c.4475-7G>C rs1557177326
NM_001110556.2(FLNA):c.4737G>C (p.Leu1579=) rs201904661
NM_001110556.2(FLNA):c.5610C>T (p.Ala1870=) rs782040591
NM_001110556.2(FLNA):c.620C>T (p.Pro207Leu) rs28935469
NM_001110556.2(FLNA):c.6502+7G>A rs782202978
NM_001110556.2(FLNA):c.7628G>A (p.Cys2543Tyr)
NM_001110556.2(FLNA):c.7812C>T (p.Ile2604=) rs1603358271
NM_001110792.2(MECP2):c.1200_1243del (p.Pro400_Pro401insTer) rs61752992
NM_001110792.2(MECP2):c.1241C>T (p.Pro414Leu) rs61753014
NM_001110792.2(MECP2):c.1351G>A (p.Ala451Thr) rs61753973
NM_001110792.2(MECP2):c.352C>T (p.Arg118Trp) rs28934907
NM_001110792.2(MECP2):c.414-3C>G rs267608465
NM_001110792.2(MECP2):c.491C>G (p.Pro164Arg) rs61748404
NM_001110792.2(MECP2):c.746del (p.Gly249fs) rs61749743
NM_001110792.2(MECP2):c.842del (p.Gly281fs) rs61750241
NM_001114753.3(ENG):c.1273-2A>G rs373842615
NM_001114753.3(ENG):c.1501G>T (p.Gly501Ter) rs372072854
NM_001114753.3(ENG):c.1541del (p.Gly514fs) rs1554809268
NM_001114753.3(ENG):c.158G>C (p.Cys53Ser) rs187643086
NM_001114753.3(ENG):c.1686+1G>A rs1554809228
NM_001114753.3(ENG):c.1A>G (p.Met1Val) rs1060501418
NM_001114753.3(ENG):c.219G>A (p.Thr73=) rs755348996
NM_001114753.3(ENG):c.220-1G>A rs1554810936
NM_001114753.3(ENG):c.41T>C (p.Leu14Pro) rs1554813788
NM_001114753.3(ENG):c.752T>C (p.Leu251Pro) rs1554810243
NM_001114753.3(ENG):c.760C>T (p.Gln254Ter) rs1554810234
NM_001114753.3(ENG):c.765del (p.Tyr258fs) rs1554810232
NM_001114753.3(ENG):c.781T>G (p.Trp261Gly) rs1554810223
NM_001127453.2(GSDME):c.1183+5G>A rs777359423
NM_001130823.3(DNMT1):c.2092A>T (p.Ser698Cys) rs1029809799
NM_001130823.3(DNMT1):c.4608C>T (p.Asp1536=) rs761534071
NM_001142864.4(PIEZO1):c.1447G>A (p.Val483Met) rs747301309
NM_001142864.4(PIEZO1):c.2488-34_2488-3del rs747907132
NM_001142864.4(PIEZO1):c.4211G>C (p.Arg1404Pro) rs565593847
NM_001142864.4(PIEZO1):c.64+12G>T rs1207737714
NM_001143992.2(WRAP53):c.1565C>G (p.Ala522Gly) rs7640
NM_001145809.2(MYH14):c.2988C>G (p.Ser996Arg) rs368160641
NM_001145809.2(MYH14):c.5975C>T (p.Thr1992Ile) rs1555779737
NM_001148.6(ANK2):c.1326C>T (p.Gly442=) rs1586382649
NM_001204.7(BMPR2):c.1077_1078del (p.Gly360fs) rs1574493773
NM_001204.7(BMPR2):c.1506del (p.Glu503fs) rs1553512523
NM_001204.7(BMPR2):c.350G>A (p.Cys117Tyr) rs1085307215
NM_001204.7(BMPR2):c.621+37C>G rs78779412
NM_001232.4(CASQ2):c.1132GAT[5] (p.Asp383del) rs72554069
NM_001243133.2(NLRP3):c.1058T>C (p.Leu353Pro) rs28937896
NM_001243133.2(NLRP3):c.195G>A (p.Ala65=) rs201205620
NM_001243133.2(NLRP3):c.2343G>T (p.Ser781=) rs764753476
NM_001243133.2(NLRP3):c.3091G>C (p.Glu1031Gln) rs1572239975
NM_001243133.2(NLRP3):c.51T>C (p.Asp17=) rs1572151908
NM_001250.6(CD40):c.256+2T>C rs774195387
NM_001267550.2(TTN):c.101415T>G (p.Thr33805=) rs763434134
NM_001267550.2(TTN):c.21958T>A (p.Leu7320Ile) rs1578036529
NM_001267550.2(TTN):c.22163A>G (p.Asn7388Ser) rs1350328102
NM_001267550.2(TTN):c.23947G>A (p.Val7983Met) rs1060500564
NM_001267550.2(TTN):c.2601T>A (p.Ser867Arg) rs751040739
NM_001267550.2(TTN):c.26643C>T (p.Phe8881=) rs982955034
NM_001267550.2(TTN):c.29938G>A (p.Ala9980Thr) rs189286381
NM_001267550.2(TTN):c.2996G>C (p.Arg999Pro) rs371757623
NM_001267550.2(TTN):c.39089C>A (p.Ala13030Glu) rs747459623
NM_001267550.2(TTN):c.44083G>C (p.Glu14695Gln) rs1576671338
NM_001267550.2(TTN):c.45192del (p.Trp15063_Tyr15064insTer) rs1553718908
NM_001267550.2(TTN):c.4724_4728del (p.Met1575fs) rs756433029
NM_001267550.2(TTN):c.51481G>A (p.Ala17161Thr) rs1576397419
NM_001267550.2(TTN):c.70162C>T (p.Arg23388Ter) rs781540455
NM_001267550.2(TTN):c.7739T>C (p.Ile2580Thr) rs1554000030
NM_001267550.2(TTN):c.79970A>G (p.Asp26657Gly) rs1397158186
NM_001267550.2(TTN):c.85789T>C (p.Trp28597Arg) rs1575611720
NM_001267550.2(TTN):c.87616G>T (p.Glu29206Ter) rs1364550008
NM_001267550.2(TTN):c.90614T>A (p.Ile30205Asn) rs1283032526
NM_001267550.2(TTN):c.94178_94179insTCTAG (p.Lys31393fs) rs1553526134
NM_001267550.2(TTN):c.94179_94180insAG (p.Pro31394fs) rs1553526116
NM_001267550.2(TTN):c.96212T>G (p.Ile32071Arg) rs755545981
NM_001276345.2(TNNT2):c.1A>G (p.Met1Val) rs1228403814
NM_001321571.2(CAMK2D):c.914T>C (p.Leu305Ser) rs1590480879
NM_001322934.2(NFKB2):c.2557C>T (p.Arg853Ter) rs397514332
NM_001355436.2(SPTB):c.1122A>C (p.Arg374Ser) rs1594787664
NM_001355436.2(SPTB):c.155G>T (p.Arg52Leu) rs1452760098
NM_001355436.2(SPTB):c.1A>G (p.Met1Val) rs121918651
NM_001355436.2(SPTB):c.3128G>A (p.Trp1043Ter) rs1594775390
NM_001355436.2(SPTB):c.3409C>A (p.Leu1137Met) rs776879148
NM_001355436.2(SPTB):c.4058del (p.Lys1353fs) rs1594770057
NM_001355436.2(SPTB):c.4267C>T (p.Arg1423Ter) rs1594767593
NM_001355436.2(SPTB):c.4453C>T (p.Arg1485Trp) rs373557486
NM_001355436.2(SPTB):c.901_903del (p.Glu301del) rs1594790255
NM_001358263.1(HK1):c.75+23del rs111682217
NM_001360016.2(G6PD):c.1288-14TC[2] rs199586268
NM_001360016.2(G6PD):c.1318C>T (p.Leu440Phe) rs1557229599
NM_001360016.2(G6PD):c.1465C>T (p.Pro489Ser) rs1603411177
NM_001360016.2(G6PD):c.486-34del rs3216174
NM_001360016.2(G6PD):c.490T>C (p.Trp164Arg) rs1603411632
NM_001360016.2(G6PD):c.815C>T (p.Ala272Val) rs1603411458
NM_001365951.3(KIF1B):c.2115+6313G>T rs374263753
NM_001369369.1(FOXN1):c.1021C>T (p.Arg341Cys) rs141965955
NM_001370259.2(MEN1):c.1213C>T (p.Gln405Ter) rs864622615
NM_001370259.2(MEN1):c.1391del (p.Ala464fs) rs1555163858
NM_001370259.2(MEN1):c.1664G>A (p.Ser555Asn) rs863224527
NM_001370259.2(MEN1):c.1A>G (p.Met1Val) rs386134250
NM_001370259.2(MEN1):c.350del (p.Leu117fs) rs1555166387
NM_001370259.2(MEN1):c.514G>T (p.Asp172Tyr) rs1114167494
NM_001370259.2(MEN1):c.783+1G>A rs794728652
NM_001370259.2(MEN1):c.913-4C>T rs770413697
NM_001370259.2(MEN1):c.913-65_913-14del rs1555165154
NM_001370259.2(MEN1):c.939T>G (p.Tyr313Ter) rs1555165128
NM_001370298.3(FGD4):c.1509G>T (p.Leu503Phe) rs1555216969
NM_001370466.1(NOD2):c.1434G>A (p.Gly478=) rs769034739
NM_001370658.1(BTD):c.132G>C (p.Glu44Asp) rs397514436
NM_001370658.1(BTD):c.248del (p.Lys83fs) rs1553652177
NM_001374353.1(GLI2):c.1639T>G (p.Tyr547Asp) rs1015526827
NM_001377.3(DYNC2H1):c.10856A>C (p.Asp3619Ala) rs370414127
NM_001377.3(DYNC2H1):c.12812T>G (p.Val4271Gly) rs913559604
NM_001377.3(DYNC2H1):c.1720C>A (p.His574Asn) rs1045577540
NM_001377.3(DYNC2H1):c.1951A>G (p.Lys651Glu) rs1461801774
NM_001379610.1(SPINK1):c.121A>C (p.Lys41Gln) rs1554089812
NM_001379610.1(SPINK1):c.137T>A (p.Val46Asp) rs1379675813
NM_001379610.1(SPINK1):c.56G>T (p.Gly19Val) rs1411503462
NM_001386125.1(OBSCN):c.11041G>A (p.Gly3681Arg) rs200870329
NM_001386125.1(OBSCN):c.17582T>G (p.Phe5861Cys) rs936285838
NM_001395413.1(POR):c.1721T>C (p.Leu574Pro) rs56256515
NM_001399.5(EDA):c.794A>G (p.Asp265Gly) rs727504750
NM_001457.4(FLNB):c.107G>A (p.Arg36His) rs142568031
NM_001457.4(FLNB):c.2251G>C (p.Gly751Arg) rs28937587
NM_001457.4(FLNB):c.2642A>G (p.Asn881Ser) rs1199239072
NM_001457.4(FLNB):c.4402C>T (p.Pro1468Ser) rs988254831
NM_001457.4(FLNB):c.4411G>C (p.Val1471Leu) rs12632456
NM_001457.4(FLNB):c.502G>T (p.Gly168Cys) rs80356504
NM_001540.5(HSPB1):c.512del (p.Lys171fs) rs1554614680
NM_001613.4(ACTA2):c.482T>C (p.Val161Ala) rs1589394154
NM_001613.4(ACTA2):c.67T>A (p.Phe23Ile) rs1589400425
NM_001614.5(ACTG1):c.124-8C>T rs201279208
NM_001614.5(ACTG1):c.985-5dup rs782289893
NM_001770.6(CD19):c.1133A>C (p.Tyr378Ser) rs1362199823
NM_001770.6(CD19):c.1303+1G>C rs372929312
NM_001844.5(COL2A1):c.1367G>T (p.Gly456Val) rs1555167372
NM_001844.5(COL2A1):c.1453G>A (p.Ala485Thr) rs556023617
NM_001844.5(COL2A1):c.1537G>A (p.Gly513Ser) rs1555167156
NM_001844.5(COL2A1):c.1924G>A (p.Gly642Arg) rs794727472
NM_001844.5(COL2A1):c.1934G>C (p.Gly645Ala) rs1592214400
NM_001844.5(COL2A1):c.2141G>A (p.Gly714Asp) rs1555166537
NM_001844.5(COL2A1):c.3139G>A (p.Gly1047Ser) rs1555165245
NM_001844.5(COL2A1):c.3157G>A (p.Gly1053Arg) rs1555165237
NM_001845.6(COL4A1):c.1277G>C (p.Gly426Ala) rs1594572151
NM_001931.5(DLAT):c.976-2del rs781853215
NM_001972.4(ELANE):c.377C>T (p.Ser126Leu) rs137854450
NM_001972.4(ELANE):c.641G>T (p.Gly214Val) rs1555710089
NM_001972.4(ELANE):c.701C>T (p.Pro234Leu) rs760263661
NM_001999.4(FBN2):c.4222+5G>C rs1554122550
NM_002109.6(HARS1):c.811G>C (p.Val271Leu) rs149018062
NM_002148.4(HOXD10):c.429C>T (p.Asn143=) rs1222562257
NM_002180.3(IGHMBP2):c.10G>A (p.Ala4Thr) rs1333262915
NM_002230.4(JUP):c.1993T>C (p.Ser665Pro) rs1597780746
NM_002296.4(LBR):c.1423T>A (p.Leu475Ile) rs1553395780
NM_002397.5(MEF2C):c.1095G>C (p.Gln365His) rs1581321362
NM_002454.3(MTRR):c.1091_1093del (p.Cys364del) rs796052001
NM_002471.4(MYH6):c.3609C>G (p.Ala1203=) rs149369904
NM_002471.4(MYH6):c.3979-10C>T rs28730768
NM_002471.4(MYH6):c.3979-9C>G rs57660219
NM_002473.6(MYH9):c.334-17G>T rs1603483869
NM_002473.6(MYH9):c.4009G>A (p.Glu1337Lys) rs1038334022
NM_002474.3(MYH11):c.4628A>C (p.Glu1543Ala) rs1555551985
NM_002474.3(MYH11):c.5336C>A (p.Thr1779Lys) rs201960644
NM_002474.3(MYH11):c.912C>T (p.Phe304=) rs1060504022
NM_002626.6(PFKL):c.1957T>C (p.Cys653Arg) rs1602058152
NM_002693.3(POLG):c.3409dup (p.Val1137fs) rs1555452461
NM_002769.5(PRSS1):c.311T>C (p.Leu104Pro) rs1554499091
NM_002769.5(PRSS1):c.40+15C>T rs760370254
NM_002769.5(PRSS1):c.40+36C>G rs200529674
NM_002769.5(PRSS1):c.40+40C>T rs200159984
NM_002769.5(PRSS1):c.40+40del rs748794481
NM_002769.5(PRSS1):c.50C>T (p.Pro17Leu) rs776401461
NM_002769.5(PRSS1):c.592-2A>C rs1585991476
NM_002834.5(PTPN11):c.1381G>A (p.Ala461Thr) rs121918468
NM_002834.5(PTPN11):c.1530G>T (p.Gln510His)
NM_002834.5(PTPN11):c.329A>C (p.Glu110Ala) rs397507519
NM_002834.5(PTPN11):c.767A>G (p.Gln256Arg) rs397507523
NM_002834.5(PTPN11):c.774G>T (p.Glu258Asp) rs397516809
NM_002834.5(PTPN11):c.836A>G (p.Tyr279Cys) rs121918456
NM_002838.5(PTPRC):c.692A>G (p.Lys231Arg) rs1553239146
NM_002838.5(PTPRC):c.933T>C (p.Cys311=) rs766607810
NM_002890.3(RASA1):c.1103-2A>C rs1484719321
NM_002890.3(RASA1):c.1454-7del rs60835976
NM_002890.3(RASA1):c.1534C>T (p.Arg512Ter) rs1554048066
NM_002890.3(RASA1):c.1703G>A (p.Trp568Ter) rs1580375996
NM_002890.3(RASA1):c.1834A>G (p.Thr612Ala) rs1314624861
NM_002890.3(RASA1):c.2604-2A>C rs1554049882
NM_002890.3(RASA1):c.2691-17del rs368117332
NM_002890.3(RASA1):c.431_438del (p.Pro144fs) rs1580179449
NM_003000.3(SDHB):c.166_170del (p.Pro56fs) rs786202100
NM_003000.3(SDHB):c.200+5G>C rs1553178726
NM_003000.3(SDHB):c.72+1G>T rs587782703
NM_003001.5(SDHC):c.406-8G>T rs747093483
NM_003002.4(SDHD):c.342T>A (p.Tyr114Ter) rs1050032491
NM_003036.4(SKI):c.436_437insCTC (p.Glu145_Leu146insPro) rs1553189924
NM_003060.4(SLC22A5):c.1088T>C (p.Leu363Pro) rs386134214
NM_003060.4(SLC22A5):c.760C>T (p.Arg254Ter) rs121908893
NM_003072.5(SMARCA4):c.4825C>T (p.Leu1609=) rs878854232
NM_003098.3(SNTA1):c.205G>A (p.Glu69Lys) rs1555822126
NM_003126.4(SPTA1):c.101G>C (p.Arg34Pro) rs567686069
NM_003126.4(SPTA1):c.6773A>G (p.Gln2258Arg) rs1571370675
NM_003126.4(SPTA1):c.6789-8del rs5778083
NM_003126.4(SPTA1):c.813-6C>G rs1571523078
NM_003185.4(TAF4):c.3101_3102del (p.Pro1034fs) rs2123082853
NM_003238.6(TGFB2):c.821dup (p.Asn274fs) rs863223796
NM_003242.6(TGFBR2):c.1151A>G (p.Asn384Ser) rs193922660
NM_003242.6(TGFBR2):c.1561T>C (p.Trp521Arg) rs1575166666
NM_003242.6(TGFBR2):c.383del (p.Lys128fs) rs79375991
NM_003244.4(TGIF1):c.700A>G (p.Asn234Asp) rs1555651109
NM_003280.3(TNNC1):c.102C>A (p.Gly34=) rs1048914110
NM_003322.6(TULP1):c.1278T>C (p.Pro426=) rs564743170
NM_003336.4(UBE2A):c.111C>T (p.Asn37=) rs1556235602
NM_003849.4(SUCLG1):c.233A>G (p.Tyr78Cys) rs1553393784
NM_003849.4(SUCLG1):c.537A>G (p.Gly179=) rs1553393580
NM_003978.5(PSTPIP1):c.1072G>C (p.Ala358Pro) rs749462900
NM_004004.6(GJB2):c.11del (p.Gly4fs) rs1555342014
NM_004004.6(GJB2):c.176_191del (p.Gly59fs) rs750188782
NM_004004.6(GJB2):c.193T>C (p.Tyr65His) rs886037849
NM_004004.6(GJB2):c.250G>T (p.Val84Leu) rs104894409
NM_004004.6(GJB2):c.294G>C (p.Arg98=) rs1334783390
NM_004004.6(GJB2):c.38T>G (p.Val13Gly) rs1593351795
NM_004004.6(GJB2):c.551G>A (p.Arg184Gln) rs80338950
NM_004006.3(DMD):c.10661G>T (p.Arg3554Leu) rs199974153
NM_004006.3(DMD):c.1481del (p.Lys494fs) rs1556853022
NM_004006.3(DMD):c.1704+1G>A rs794727123
NM_004006.3(DMD):c.2101G>T (p.Glu701Ter) rs1556780711
NM_004006.3(DMD):c.2273A>C (p.Asp758Ala) rs750526692
NM_004006.3(DMD):c.2416G>T (p.Glu806Ter) rs1557383761
NM_004006.3(DMD):c.2485C>T (p.Gln829Ter) rs753662330
NM_004006.3(DMD):c.4060del (p.Leu1354fs) rs1557357445
NM_004006.3(DMD):c.4117C>T (p.Gln1373Ter) rs398123948
NM_004006.3(DMD):c.4240C>T (p.Gln1414Ter) rs863224997
NM_004006.3(DMD):c.4744G>A (p.Val1582Ile) rs398123965
NM_004006.3(DMD):c.4845+2T>G rs1557315881
NM_004006.3(DMD):c.5154+15A>G rs1603631739
NM_004006.3(DMD):c.5287C>T (p.Arg1763Ter) rs398123981
NM_004006.3(DMD):c.5350G>T (p.Glu1784Ter) rs777864641
NM_004006.3(DMD):c.5851C>T (p.Gln1951Ter) rs773643220
NM_004006.3(DMD):c.5922+4A>G rs1603631218
NM_004006.3(DMD):c.6128_6131del (p.Asp2043fs) rs863225006
NM_004006.3(DMD):c.6614+2T>C rs1060502641
NM_004006.3(DMD):c.686T>G (p.Leu229Ter) rs1556930769
NM_004006.3(DMD):c.7899G>A (p.Trp2633Ter) rs1556790316
NM_004006.3(DMD):c.8391-2A>G rs1556665303
NM_004006.3(DMD):c.8782A>T (p.Lys2928Ter) rs1556656298
NM_004006.3(DMD):c.8880G>A (p.Trp2960Ter) rs1556656184
NM_004006.3(DMD):c.9180del (p.Trp3061fs) rs1569526156
NM_004006.3(DMD):c.9352G>A (p.Ala3118Thr) rs200928985
NM_004333.6(BRAF):c.1406G>A (p.Gly469Glu) rs121913355
NM_004333.6(BRAF):c.2128-4G>T rs956143558
NM_004360.5(CDH1):c.2475G>A (p.Pro825=) rs755658014
NM_004360.5(CDH1):c.656del (p.Pro219fs) rs1555515284
NM_004360.5(CDH1):c.820G>A (p.Gly274Ser) rs781513008
NM_004415.4(DSP):c.2631-10T>A rs369840498
NM_004415.4(DSP):c.428T>C (p.Leu143Pro) rs746545985
NM_004444.5(EPHB4):c.1400A>G (p.Tyr467Cys) rs1584662598
NM_004444.5(EPHB4):c.2450G>A (p.Gly817Glu) rs1584653660
NM_004444.5(EPHB4):c.2484+3A>T rs1584653617
NM_004444.5(EPHB4):c.2533T>C (p.Cys845Arg) rs1584653054
NM_004444.5(EPHB4):c.2590C>T (p.Arg864Trp) rs769965440
NM_004612.4(TGFBR1):c.707C>T (p.Ser236Phe) rs863223812
NM_004984.4(KIF5A):c.2314C>T (p.Arg772Ter) rs1555178616
NM_004985.5(KRAS):c.458A>T (p.Asp153Val) rs104894360
NM_004985.5(KRAS):c.65A>G (p.Gln22Arg) rs727503110
NM_004990.4(MARS1):c.1717G>A (p.Asp573Asn) rs1594833103
NM_004999.4(MYO6):c.1837A>G (p.Arg613Gly) rs781019390
NM_005188.4(CBL):c.1111T>A (p.Tyr371Asn) rs267606706
NM_005334.3(HCFC1):c.4576G>A (p.Ala1526Thr) rs782652831
NM_005413.4(SIX3):c.339G>T (p.Trp113Cys) rs137853021
NM_005422.4(TECTA):c.1759A>G (p.Thr587Ala) rs1555123703
NM_005529.7(HSPG2):c.11863G>T (p.Val3955Leu) rs145155624
NM_005529.7(HSPG2):c.6665G>A (p.Gly2222Asp) rs200488208
NM_005529.7(HSPG2):c.6682G>C (p.Glu2228Gln) rs1572229579
NM_005529.7(HSPG2):c.7210_7233del (p.Glu2404_Gly2411del) rs761662063
NM_005529.7(HSPG2):c.744_745inv (p.Val249Met)
NM_005529.7(HSPG2):c.9040G>A (p.Gly3014Arg) rs1553160553
NM_005591.4(MRE11):c.1811G>C (p.Arg604Pro) rs148637964
NM_005629.4(SLC6A8):c.832C>T (p.Arg278Cys) rs1557044958
NM_005633.4(SOS1):c.1300G>C (p.Gly434Arg) rs397517148
NM_005633.4(SOS1):c.508A>G (p.Lys170Glu) rs397517172
NM_005751.5(AKAP9):c.1288T>A (p.Leu430Ile) rs756987149
NM_005751.5(AKAP9):c.1289T>A (p.Leu430Ter) rs778556625
NM_005902.4(SMAD3):c.539del (p.Pro180fs) rs1555412294
NM_005957.5(MTHFR):c.1685G>A (p.Gly562Asp) rs1161759917
NM_006158.5(NEFL):c.1392G>A (p.Glu464=) rs1554497334
NM_006182.4(DDR2):c.1355G>C (p.Ser452Thr) rs1571316841
NM_006231.4(POLE):c.3275+12_3275+37del rs1057517627
NM_006363.6(SEC23B):c.2153G>A (p.Arg718Gln) rs1443733304
NM_006446.5(SLCO1B1):c.1866-2A>G rs1591754361
NM_006579.3(EBP):c.-74+3G>C rs188270695
NM_006912.6(RIT1):c.163+7C>T rs1553229454
NM_006912.6(RIT1):c.242A>G (p.Glu81Gly) rs869025193
NM_007194.4(CHEK2):c.616_617del (p.Val206fs) rs1346554630
NM_007194.4(CHEK2):c.925C>T (p.Leu309=) rs786202521
NM_007272.3(CTRC):c.357-30C>A rs1224734295
NM_007272.3(CTRC):c.738_761del (p.Lys247_Arg254del) rs515726210
NM_007294.4(BRCA1):c.1082_1092del (p.Cys360_Ser361insTer) rs80359880
NM_007294.4(BRCA1):c.1110del (p.Pro371fs) rs1555592474
NM_007294.4(BRCA1):c.1127del (p.Asn376fs) rs80357821
NM_007294.4(BRCA1):c.1175_1214del (p.Leu392fs) rs80359874
NM_007294.4(BRCA1):c.1612C>T (p.Gln538Ter) rs80356893
NM_007294.4(BRCA1):c.1843TCT[1] (p.Ser616del) rs80358329
NM_007294.4(BRCA1):c.1999C>T (p.Gln667Ter) rs80356889
NM_007294.4(BRCA1):c.211A>G (p.Arg71Gly) rs80357382
NM_007294.4(BRCA1):c.213-12A>G rs80358163
NM_007294.4(BRCA1):c.2232T>G (p.Ala744=) rs4986846
NM_007294.4(BRCA1):c.2398_2401del (p.Lys800fs) rs786202684
NM_007294.4(BRCA1):c.2403T>G (p.Cys801Trp) rs80357381
NM_007294.4(BRCA1):c.2563C>A (p.Gln855Lys) rs80357131
NM_007294.4(BRCA1):c.2594del (p.Lys865fs) rs80357756
NM_007294.4(BRCA1):c.2713C>T (p.Gln905Ter) rs397509002
NM_007294.4(BRCA1):c.2940del (p.Pro981fs) rs80357876
NM_007294.4(BRCA1):c.3358G>C (p.Val1120Leu) rs748894760
NM_007294.4(BRCA1):c.3598C>T (p.Gln1200Ter) rs62625307
NM_007294.4(BRCA1):c.3700_3704del (p.Val1234fs) rs80357609
NM_007294.4(BRCA1):c.3748G>T (p.Glu1250Ter) rs28897686
NM_007294.4(BRCA1):c.3937C>T (p.Gln1313Ter) rs80357318
NM_007294.4(BRCA1):c.4097-6T>C rs1555586284
NM_007294.4(BRCA1):c.4185+24A>G rs763074389
NM_007294.4(BRCA1):c.426C>T (p.Pro142=) rs542687218
NM_007294.4(BRCA1):c.4327C>T (p.Arg1443Ter) rs41293455
NM_007294.4(BRCA1):c.441+36_441+49del rs373413425
NM_007294.4(BRCA1):c.441+36_441+50del rs1168113546
NM_007294.4(BRCA1):c.4524G>A (p.Trp1508Ter) rs80356885
NM_007294.4(BRCA1):c.4964_4982del (p.Ser1655fs) rs80359876
NM_007294.4(BRCA1):c.4987-1G>A rs730881495
NM_007294.4(BRCA1):c.5014CAC[1] (p.His1673del) rs80358343
NM_007294.4(BRCA1):c.5193+1del rs397509236
NM_007294.4(BRCA1):c.5277+1G>A rs80358150
NM_007294.4(BRCA1):c.5538G>A (p.Gln1846=) rs80356849
NM_007294.4(BRCA1):c.5580C>G (p.His1860Gln) rs1597796507
NM_007294.4(BRCA1):c.676del (p.Cys226fs) rs80357941
NM_007294.4(BRCA1):c.798_799del (p.Ser267fs) rs80357724
NM_007294.4(BRCA1):c.81-13C>A rs56328013
NM_007294.4(BRCA1):c.81-14C>T rs80358006
NM_012062.5(DNM1L):c.436G>A (p.Asp146Asn) rs1057523861
NM_012452.3(TNFRSF13B):c.431C>G (p.Ser144Ter) rs104894650
NM_013314.4(BLNK):c.1114C>T (p.Arg372Trp) rs782566012
NM_014251.3(SLC25A13):c.848+28del rs11335226
NM_014336.5(AIPL1):c.771C>T (p.Leu257=) rs781449220
NM_014804.3(KIAA0753):c.1571_1572del (p.Arg524fs) rs770256450
NM_014874.4(MFN2):c.2219G>C (p.Trp740Ser) rs28940292
NM_014874.4(MFN2):c.493C>T (p.His165Tyr) rs119103262
NM_014920.5(CILK1):c.964C>G (p.Pro322Ala) rs1183385446
NM_015046.7(SETX):c.1658C>T (p.Ser553Phe) rs1589747116
NM_015046.7(SETX):c.7200-11_7200-10del rs531485265
NM_015046.7(SETX):c.7943C>T (p.Ser2648Phe) rs1014113627
NM_015141.4(GPD1L):c.624C>G (p.Ile208Met) rs267599768
NM_015404.4(WHRN):c.2644C>A (p.Arg882Ser) rs150586098
NM_015404.4(WHRN):c.321C>G (p.Asp107Glu) rs766238813
NM_015404.4(WHRN):c.837+1del rs749910508
NM_015506.3(MMACHC):c.352del (p.Gln118fs) rs749264632
NM_016038.4(SBDS):c.129-160T>G rs368334049
NM_016156.6(MTMR2):c.184_186del (p.Arg62del) rs141498429
NM_016203.4(PRKAG2):c.375G>A (p.Gly125=) rs748041666
NM_016239.4(MYO15A):c.2065dup (p.Arg689fs) rs1332576936
NM_016239.4(MYO15A):c.7476_7477del (p.Lys2492fs) rs1305675114
NM_016239.4(MYO15A):c.8590G>C (p.Glu2864Gln) rs1555546843
NM_016239.4(MYO15A):c.8882C>T (p.Thr2961Met) rs1347316160
NM_016239.4(MYO15A):c.9785G>C (p.Arg3262Pro) rs368106470
NM_016938.5(EFEMP2):c.490+9A>T rs1465424178
NM_017433.5(MYO3A):c.731+4A>T rs1184463802
NM_017780.4(CHD7):c.2257C>T (p.Gln753Ter) rs1586350727
NM_017780.4(CHD7):c.2614-14del rs748282026
NM_017780.4(CHD7):c.4654G>T (p.Val1552Phe) rs1586426507
NM_017780.4(CHD7):c.469C>T (p.Arg157Ter) rs794727293
NM_017780.4(CHD7):c.559C>T (p.Gln187Ter) rs1586248834
NM_017780.4(CHD7):c.5894+32C>G rs41265252
NM_017780.4(CHD7):c.7252C>T (p.Arg2418Ter) rs587783455
NM_017820.5(EXD3):c.944C>T (p.Thr315Met) rs370293169
NM_018062.4(FANCL):c.776-10dup rs374236117
NM_018979.4(WNK1):c.6574G>A (p.Asp2192Asn) rs747750974
NM_019075.4(UGT1A10):c.855+44828T>C rs1575428418
NM_019844.4(SLCO1B3):c.728-4C>G rs759435706
NM_020297.4(ABCC9):c.4512+745dup rs1555176123
NM_020297.4(ABCC9):c.614C>T (p.Pro205Leu) rs1286474202
NM_020366.4(RPGRIP1):c.3553G>A (p.Glu1185Lys) rs766353935
NM_020822.3(KCNT1):c.1661G>A (p.Gly554Glu) rs1588359968
NM_020937.4(FANCM):c.4516-5_4516-2del rs796584585
NM_020975.6(RET):c.1826G>T (p.Cys609Phe) rs77939446
NM_020975.6(RET):c.1858T>G (p.Cys620Gly) rs77316810
NM_020975.6(RET):c.1859G>T (p.Cys620Phe) rs77503355
NM_020975.6(RET):c.2393-14C>T rs144269978
NM_020975.6(RET):c.2753T>C (p.Met918Thr) rs74799832
NM_021922.3(FANCE):c.387A>C (p.Pro129=) rs4713867
NM_021939.4(FKBP10):c.829C>G (p.Pro277Ala) rs138089753
NM_022041.4(GAN):c.322G>A (p.Ala108Thr) rs771660619
NM_022336.4(EDAR):c.481G>A (p.Gly161Ser) rs1553445966
NM_022356.4(P3H1):c.808+9A>T rs1553143084
NM_022489.4(INF2):c.1274C>T (p.Pro425Leu) rs1555374270
NM_022489.4(INF2):c.2875C>T (p.Pro959Ser) rs369417066
NM_022489.4(INF2):c.3342C>G (p.Leu1114=) rs777623201
NM_023110.3(FGFR1):c.1694C>T (p.Ser565Phe) rs768223019
NM_024422.6(DSC2):c.1350A>G (p.Arg450=) rs144242114
NM_024422.6(DSC2):c.2509-18T>C rs1598569530
NM_024675.4(PALB2):c.509_510del (p.Arg170fs) rs515726123
NM_024675.4(PALB2):c.9G>A (p.Glu3=) rs786202325
NM_024753.5(TTC21B):c.370_380del (p.His124fs) rs1237271536
NM_025099.6(CTC1):c.1241G>C (p.Gly414Ala) rs62624978
NM_025099.6(CTC1):c.3072G>A (p.Gln1024=) rs1279994496
NM_025114.4(CEP290):c.916G>A (p.Val306Ile) rs558949569
NM_032119.4(ADGRV1):c.1364T>G (p.Val455Gly) rs1580510493
NM_032119.4(ADGRV1):c.17683G>A (p.Val5895Ile) rs1025278736
NM_032444.4(SLX4):c.1163+10C>T rs80116508
NM_032578.4(MYPN):c.2565-17G>A rs1334366122
NM_033056.4(PCDH15):c.4368T>A (p.Ile1456=) rs140748627
NM_033056.4(PCDH15):c.5363TTCCTC[1] (p.1788LP[1]) rs779691085
NM_033100.4(CDHR1):c.1915_1923del (p.Asp639_Leu641del) rs771786130
NM_033100.4(CDHR1):c.2473C>G (p.Pro825Ala) rs201515900
NM_033380.3(COL4A5):c.1032+17del rs761615270
NM_033380.3(COL4A5):c.2821G>C (p.Gly941Arg) rs104886196
NM_033380.3(COL4A5):c.800G>T (p.Gly267Val) rs1556406775
NM_053274.3(GLMN):c.1179_1181del (p.Asn393del) rs773442562
NM_058216.3(RAD51C):c.93del (p.Phe32fs) rs730881942
NM_080680.3(COL11A2):c.2870C>T (p.Pro957Leu) rs1554217670
NM_080680.3(COL11A2):c.2928G>C (p.Gly976=) rs147004824
NM_133379.5(TTN):c.11216A>G (p.Lys3739Arg) rs775847921
NM_144997.7(FLCN):c.1177-5_1177-3del rs767671406
NM_144997.7(FLCN):c.1188del (p.Val397fs) rs1567809782
NM_144997.7(FLCN):c.1301-2A>G rs1555607296
NM_144997.7(FLCN):c.1429C>T (p.Arg477Ter) rs879255678
NM_144997.7(FLCN):c.1432+1G>A rs755959303
NM_144997.7(FLCN):c.507G>A (p.Trp169Ter) rs1555610290
NM_144997.7(FLCN):c.665T>G (p.Met222Arg) rs1555609889
NM_147127.5(EVC2):c.1110del (p.Glu371fs) rs1553846613
NM_147127.5(EVC2):c.645G>A (p.Trp215Ter) rs779857359
NM_153676.4(USH1C):c.701C>T (p.Pro234Leu) rs1554961433
NM_153717.3(EVC):c.1652C>G (p.Pro551Arg) rs371682994
NM_172107.4(KCNQ2):c.910TTC[1] (p.Phe305del) rs118192212
NM_177438.3(DICER1):c.2776G>C (p.Asp926His) rs1060503645
NM_177438.3(DICER1):c.5250A>G (p.Val1750=) rs1595330127
NM_181523.3(PIK3R1):c.1425+1G>C rs587777709
NM_182961.4(SYNE1):c.1951C>T (p.Pro651Ser) rs1455678689
NM_182961.4(SYNE1):c.9715C>G (p.Gln3239Glu) rs149901087
NM_194248.3(OTOF):c.4483C>T (p.Arg1495Ter) rs147321712
NM_194248.3(OTOF):c.5938G>T (p.Ala1980Ser) rs62640381
NM_194454.3(KRIT1):c.1315G>T (p.Gly439Ter) rs1584881660
NM_194454.3(KRIT1):c.1363C>T (p.Gln455Ter) rs267607203
NM_194454.3(KRIT1):c.1807del (p.His603fs) rs886039572
NM_194454.3(KRIT1):c.1890G>A (p.Trp630Ter) rs1554503009
NM_194454.3(KRIT1):c.1932dup (p.Phe645fs) rs1554502927
NM_198253.3(TERT):c.343T>A (p.Phe115Ile) rs1554043085
NM_198253.3(TERT):c.359G>C (p.Arg120Pro) rs1554043083
NM_206933.4(USH2A):c.10934T>A (p.Val3645Asp) rs1571678968
NM_206933.4(USH2A):c.15581G>T (p.Arg5194Leu) rs727505155
NM_206933.4(USH2A):c.4222C>T (p.Gln1408Ter) rs746551311
NM_206933.4(USH2A):c.4680A>C (p.Ala1560=) rs1233583863
NM_206933.4(USH2A):c.5255T>G (p.Leu1752Trp) rs1469348824
NM_206933.4(USH2A):c.6601C>T (p.Gln2201Ter) rs794727579
NM_206933.4(USH2A):c.9258+3T>C rs1553268427
NR_001566.1(TERC):n.514A>G rs2293607
m.3271T>C rs199474658

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