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_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_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_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_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_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_001148.6(ANK2):c.1881+8C>G
|
rs74976371
|
0.00612
|
NM_032444.4(SLX4):c.90C>T (p.Ser30=)
|
rs118089506
|
0.00612
|
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_206933.4(USH2A):c.14226G>A (p.Thr4742=)
|
rs78576418
|
0.00545
|
NM_001374353.1(GLI2):c.3539G>A (p.Gly1180Asp)
|
rs114823319
|
0.00522
|
NM_017780.4(CHD7):c.1018A>G (p.Met340Val)
|
rs41305525
|
0.00505
|
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_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_000179.3(MSH6):c.457+13A>G
|
rs1800933
|
0.00434
|
NM_000053.4(ATP7B):c.3015C>T (p.Asn1005=)
|
rs74085888
|
0.00430
|
NM_033056.4(PCDH15):c.5603C>T (p.Thr1868Met)
|
rs191736346
|
0.00423
|
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_004006.3(DMD):c.5448+148G>T
|
rs72468625
|
0.00360
|
NM_000138.5(FBN1):c.3082+8del
|
rs193922196
|
0.00359
|
NM_001042492.3(NF1):c.2252-31A>T
|
rs141082540
|
0.00355
|
NM_002769.5(PRSS1):c.592-24C>T
|
rs192452846
|
0.00354
|
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_005529.7(HSPG2):c.703+22C>T
|
rs185397994
|
0.00321
|
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_000138.5(FBN1):c.2055C>T (p.Cys685=)
|
rs140603
|
0.00304
|
NM_001110792.2(MECP2):c.413+28A>G
|
rs185036026
|
0.00301
|
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_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_001084.5(PLOD3):c.110-153T>C
|
rs184771174
|
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_021625.5(TRPV4):c.712+10C>T
|
rs115657305
|
0.00260
|
NM_001130823.3(DNMT1):c.4773+18C>T
|
rs183300496
|
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_000033.4(ABCD1):c.38A>C (p.Asn13Thr)
|
rs183021839
|
0.00235
|
NM_001035.3(RYR2):c.2204-16G>T
|
rs368648602
|
0.00235
|
NM_005359.6(SMAD4):c.1140-10T>C
|
rs186332162
|
0.00221
|
NM_001110556.2(FLNA):c.7686C>T (p.Ala2562=)
|
rs76337075
|
0.00219
|
NM_001303.4(COX10):c.1291C>T (p.Arg431Trp)
|
rs113058506
|
0.00212
|
NM_002890.3(RASA1):c.1371G>A (p.Lys457=)
|
rs140707293
|
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_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_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_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_000719.7(CACNA1C):c.1669+10G>A
|
rs576194052
|
0.00175
|
NM_001457.4(FLNB):c.6684C>T (p.Ile2228=)
|
rs138416613
|
0.00170
|
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_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_000179.3(MSH6):c.3801+17T>C
|
rs3136365
|
0.00159
|
NM_001204.7(BMPR2):c.622-35A>T
|
rs147197594
|
0.00155
|
NM_001048174.2(MUTYH):c.1501C>A (p.Leu501Met)
|
rs3219496
|
0.00154
|
NM_024577.4(SH3TC2):c.1177+10G>A
|
rs139257109
|
0.00153
|
NM_000059.4(BRCA2):c.3515C>T (p.Ser1172Leu)
|
rs80358600
|
0.00146
|
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_015046.7(SETX):c.7101A>G (p.Gly2367=)
|
rs79233884
|
0.00141
|
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_032119.4(ADGRV1):c.1776C>A (p.Val592=)
|
rs184127858
|
0.00131
|
NM_000314.8(PTEN):c.79+35C>T
|
rs190707033
|
0.00130
|
NM_206933.4(USH2A):c.2167+17A>G
|
rs181777364
|
0.00129
|
NM_001042492.3(NF1):c.1846-12A>T
|
rs188510882
|
0.00124
|
NM_000459.5(TEK):c.3090G>A (p.Glu1030=)
|
rs56133834
|
0.00121
|
NM_003322.6(TULP1):c.99+18G>A
|
rs144077749
|
0.00121
|
NM_001370259.2(MEN1):c.1296G>A (p.Leu432=)
|
rs138770431
|
0.00119
|
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_001005361.3(DNM2):c.1782-5C>T
|
rs200103145
|
0.00113
|
NM_004006.3(DMD):c.7571G>A (p.Arg2524His)
|
rs151244052
|
0.00109
|
NM_001282426.2(PIK3CG):c.1722G>A (p.Leu574=)
|
rs144082858
|
0.00106
|
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_000089.4(COL1A2):c.3712-80C>T
|
rs114796185
|
0.00095
|
NM_173495.3(PTCHD1):c.1013-12C>G
|
rs200934310
|
0.00095
|
NM_001844.5(COL2A1):c.2095-4G>A
|
rs111570218
|
0.00089
|
NM_000260.4(MYO7A):c.4620G>A (p.Ala1540=)
|
rs41298745
|
0.00087
|
NM_016203.4(PRKAG2):c.1584+7C>T
|
rs111627309
|
0.00086
|
NM_000288.4(PEX7):c.615C>T (p.Asp205=)
|
rs147298444
|
0.00085
|
NM_003073.5(SMARCB1):c.267C>T (p.Thr89=)
|
rs141275968
|
0.00082
|
NM_000435.3(NOTCH3):c.2835G>A (p.Ser945=)
|
rs141346023
|
0.00081
|
NM_001605.3(AARS1):c.1632C>T (p.Asp544=)
|
rs149425243
|
0.00081
|
NM_001009944.3(PKD1):c.8247G>A (p.Ala2749=)
|
rs143265128
|
0.00080
|
NM_004984.4(KIF5A):c.2199-4G>A
|
rs201366820
|
0.00077
|
NM_000059.4(BRCA2):c.5198C>T (p.Ser1733Phe)
|
rs55639415
|
0.00069
|
NM_000492.4(CFTR):c.2735C>T (p.Ser912Leu)
|
rs121909034
|
0.00068
|
NM_001999.4(FBN2):c.436+16G>A
|
rs372098570
|
0.00068
|
NM_001130823.3(DNMT1):c.731G>A (p.Gly244Glu)
|
rs150999369
|
0.00066
|
NM_001379180.1(ESRRB):c.*1517C>T
|
rs201726554
|
0.00066
|
NM_006158.5(NEFL):c.639C>G (p.Ile213Met)
|
rs62636522
|
0.00065
|
NM_014249.4(NR2E3):c.904G>A (p.Val302Ile)
|
rs1805025
|
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_001009944.3(PKD1):c.2655C>T (p.Cys885=)
|
rs142606648
|
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_001360016.2(G6PD):c.120+3617T>C
|
rs368857323
|
0.00058
|
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_000059.4(BRCA2):c.1964C>G (p.Pro655Arg)
|
rs28897712
|
0.00054
|
NM_002691.4(POLD1):c.1665C>T (p.Val555=)
|
rs150238541
|
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_001042492.3(NF1):c.7615+24del
|
rs754290122
|
0.00050
|
NM_000059.4(BRCA2):c.9720T>C (p.Val3240=)
|
rs80359810
|
0.00048
|
NM_000138.5(FBN1):c.5065+10A>G
|
rs375945405
|
0.00048
|
NM_000059.4(BRCA2):c.9649-19G>A
|
rs11571830
|
0.00047
|
NM_033380.3(COL4A5):c.1588-13T>G
|
rs201708502
|
0.00047
|
NM_000059.4(BRCA2):c.7976+12G>A
|
rs81002827
|
0.00045
|
NM_001142864.4(PIEZO1):c.6804G>A (p.Ala2268=)
|
rs371847339
|
0.00045
|
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_000326.5(RLBP1):c.795+15C>T
|
rs181863443
|
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_001243133.2(NLRP3):c.1032G>A (p.Leu344=)
|
rs180177471
|
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_000051.4(ATM):c.6808-22C>A
|
rs3218700
|
0.00036
|
NM_000059.4(BRCA2):c.9924C>T (p.Tyr3308=)
|
rs4987049
|
0.00035
|
NM_000455.5(STK11):c.1284G>A (p.Ser428=)
|
rs369097329
|
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_001034853.2(RPGR):c.141T>G (p.Ser47=)
|
rs62638631
|
0.00034
|
NM_000441.2(SLC26A4):c.1614+8C>T
|
rs370184422
|
0.00032
|
NM_000368.5(TSC1):c.1977G>A (p.Ala659=)
|
rs35958226
|
0.00030
|
NM_021625.5(TRPV4):c.2043C>T (p.Gly681=)
|
rs375633647
|
0.00029
|
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_004612.4(TGFBR1):c.528G>A (p.Thr176=)
|
rs190878719
|
0.00026
|
NM_000138.5(FBN1):c.2678-12T>C
|
rs200368037
|
0.00024
|
NM_001844.5(COL2A1):c.1581+16G>A
|
rs182598943
|
0.00024
|
NM_004006.3(DMD):c.9165G>A (p.Thr3055=)
|
rs137905486
|
0.00024
|
NM_020975.6(RET):c.2088G>A (p.Ser696=)
|
rs150329150
|
0.00024
|
NM_007294.4(BRCA1):c.1486C>T (p.Arg496Cys)
|
rs28897676
|
0.00023
|
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_000518.5(HBB):c.315+70G>C
|
rs373152208
|
0.00021
|
NM_001024630.4(RUNX2):c.254C>T (p.Ala85Val)
|
rs372138746
|
0.00020
|
NM_001457.4(FLNB):c.5769C>T (p.Ala1923=)
|
rs201723447
|
0.00019
|
NM_001457.4(FLNB):c.7198+20C>G
|
rs201580886
|
0.00019
|
NM_001457.4(FLNB):c.4390+8T>A
|
rs377095569
|
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_000059.4(BRCA2):c.9649-20C>T
|
rs56177715
|
0.00016
|
NM_000314.8(PTEN):c.493-42A>G
|
rs765083317
|
0.00016
|
NM_000033.4(ABCD1):c.901-5C>T
|
rs782603062
|
0.00015
|
NM_000059.4(BRCA2):c.2919G>A (p.Ser973=)
|
rs45525041
|
0.00012
|
NM_007294.4(BRCA1):c.2315T>C (p.Val772Ala)
|
rs80357467
|
0.00012
|
NM_018979.4(WNK1):c.2664A>G (p.Val888=)
|
rs769020140
|
0.00012
|
NM_000059.4(BRCA2):c.9501+9A>C
|
rs81002867
|
0.00011
|
NM_000455.5(STK11):c.825G>A (p.Pro275=)
|
rs202011521
|
0.00011
|
NM_002834.5(PTPN11):c.558G>T (p.Arg186=)
|
rs200920312
|
0.00011
|
NM_007294.4(BRCA1):c.441+18C>T
|
rs371973519
|
0.00011
|
NM_000314.8(PTEN):c.253+66A>G
|
rs377719086
|
0.00010
|
NM_000368.5(TSC1):c.3303G>A (p.Glu1101=)
|
rs118203751
|
0.00010
|
NM_001042492.3(NF1):c.2252-34T>C
|
rs200937398
|
0.00010
|
NM_001110792.2(MECP2):c.204C>T (p.Pro68=)
|
rs61754435
|
0.00010
|
NM_144596.4(TTC8):c.267C>A (p.Arg89=)
|
rs200113889
|
0.00008
|
NM_007294.4(BRCA1):c.-19-10T>C
|
rs201866997
|
0.00007
|
NM_000492.4(CFTR):c.2604A>G (p.Val868=)
|
rs1800105
|
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.7490-19C>T
|
rs767603290
|
0.00006
|
NM_001355436.2(SPTB):c.1791G>A (p.Gly597=)
|
rs200814169
|
0.00006
|
NM_002661.5(PLCG2):c.2259C>T (p.Tyr753=)
|
rs370847174
|
0.00006
|
NM_004415.4(DSP):c.7548G>A (p.Arg2516=)
|
rs756527780
|
0.00006
|
NM_000059.4(BRCA2):c.426-37T>A
|
rs81002859
|
0.00005
|
NM_000059.4(BRCA2):c.7052C>G (p.Ala2351Gly)
|
rs80358932
|
0.00005
|
NM_001267550.2(TTN):c.14935+9C>T
|
rs544241749
|
0.00005
|
NM_001267550.2(TTN):c.51739+14C>A
|
rs727505018
|
0.00005
|
NM_000179.3(MSH6):c.260+10T>G
|
rs193922342
|
0.00004
|
NM_001142864.4(PIEZO1):c.2329+11C>T
|
rs1313856152
|
0.00004
|
NM_001931.5(DLAT):c.381+5G>T
|
rs552793
|
0.00004
|
NM_004006.3(DMD):c.4275A>G (p.Glu1425=)
|
rs72468647
|
0.00004
|
NM_007294.4(BRCA1):c.4357+17A>G
|
rs80358180
|
0.00004
|
NM_000059.4(BRCA2):c.316+12A>G
|
rs186419778
|
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_000090.4(COL3A1):c.3363+21G>C
|
rs376559659
|
0.00003
|
NM_001042492.3(NF1):c.*4T>C
|
rs201044568
|
0.00003
|
NM_001360016.2(G6PD):c.486-29G>T
|
rs370403856
|
0.00003
|
NM_002474.3(MYH11):c.444C>T (p.His148=)
|
rs569925780
|
0.00003
|
NM_005529.7(HSPG2):c.2520C>T (p.Asp840=)
|
rs544565016
|
0.00003
|
NM_001009944.3(PKD1):c.1674G>A (p.Thr558=)
|
rs757658330
|
0.00002
|
NM_001110556.2(FLNA):c.2839G>A (p.Val947Ile)
|
rs782239678
|
0.00002
|
NM_001110556.2(FLNA):c.4503C>T (p.Asp1501=)
|
rs1324926264
|
0.00002
|
NM_007294.4(BRCA1):c.3699A>G (p.Lys1233=)
|
rs368690455
|
0.00002
|
NM_000059.4(BRCA2):c.8124T>G (p.Thr2708=)
|
rs587780662
|
0.00001
|
NM_000059.4(BRCA2):c.9509A>G (p.Asp3170Gly)
|
rs80359224
|
0.00001
|
NM_000371.4(TTR):c.408T>C (p.Tyr136=)
|
rs1454790119
|
0.00001
|
NM_001042492.3(NF1):c.3974+9T>A
|
rs368586596
|
0.00001
|
NM_001114753.3(ENG):c.1273-5C>T
|
rs779103881
|
0.00001
|
NM_001204.7(BMPR2):c.*621G>A
|
rs1303164094
|
0.00001
|
NM_001386125.1(OBSCN):c.8631C>T (p.Pro2877=)
|
rs781325246
|
0.00001
|
NM_002626.6(PFKL):c.1863G>A (p.Arg621=)
|
rs539532679
|
0.00001
|
NM_004006.3(DMD):c.6140A>G (p.Gln2047Arg)
|
rs773782786
|
0.00001
|
NM_194454.3(KRIT1):c.262+68A>G
|
rs1554536465
|
0.00001
|
NM_000020.3(ACVRL1):c.625+110_625+125del
|
rs1555152839
|
|
NM_000038.6(APC):c.5265_5268delinsATCG (p.Ala1755_Ser1756=)
|
rs1554086584
|
|
NM_000059.4(BRCA2):c.1909+22del
|
rs276174816
|
|
NM_000132.4(F8):c.5374-19del
|
rs782086610
|
|
NM_000138.5(FBN1):c.1415= (p.Tyr472=)
|
rs113936729
|
|
NM_000208.4(INSR):c.2842+33G>A
|
rs35169098
|
|
NM_000243.3(MEFV):c.585G>A (p.Glu195=)
|
rs200766991
|
|
NM_000245.4(MET):c.1528-39_1528-38delinsAT
|
rs1554391208
|
|
NM_000314.8(PTEN):c.165-24TTTG[2]
|
rs786204877
|
|
NM_000314.8(PTEN):c.802-3del
|
rs34003473
|
|
NM_000314.8(PTEN):c.802-51_802-14del
|
rs557364463
|
|
NM_000431.4(MVK):c.677+12del
|
rs774948892
|
|
NM_000465.4(BARD1):c.216-9A>T
|
rs759575504
|
|
NM_000492.3(CFTR):c.1210-17_1210-12del
|
rs3832534
|
|
NM_000492.4(CFTR):c.4243-35del
|
rs193922527
|
|
NM_000517.6(HBA2):c.237C>G (p.Asn79Lys)
|
rs281860607
|
|
NM_000546.6(TP53):c.96+41_97-54del
|
rs59758982
|
|
NM_000637.5(GSR):c.334-5del
|
rs74518074
|
|
NM_000637.5(GSR):c.334-6_334-5del
|
rs74518074
|
|
NM_001009944.3(PKD1):c.11713-29T>A
|
rs1555445308
|
|
NM_001009944.3(PKD1):c.11713-31C>T
|
rs1318395645
|
|
NM_001009944.3(PKD1):c.12000C>G (p.Val4000=)
|
rs1555445055
|
|
NM_001009944.3(PKD1):c.4191G>A (p.Glu1397=)
|
rs1356967038
|
|
NM_001009944.3(PKD1):c.7353G>T (p.Leu2451=)
|
rs1342647727
|
|
NM_001018.5(RPS15):c.140G>C (p.Arg47Pro)
|
rs201657403
|
|
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_001042492.3(NF1):c.1186-13del
|
rs763903212
|
|
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.7190-33TTGT[3]
|
rs149197458
|
|
NM_001042492.3(NF1):c.7190-33TTGT[5]
|
rs149197458
|
|
NM_001042492.3(NF1):c.730+32del
|
rs71142032
|
|
NM_001042492.3(NF1):c.7457+21A>G
|
rs17881641
|
|
NM_001042492.3(NF1):c.8161-34del
|
rs528599051
|
|
NM_001042492.3(NF1):c.889-25_889-21del
|
rs17881173
|
|
NM_001048174.2(MUTYH):c.606+21C>A
|
rs148552450
|
|
NM_001110792.2(MECP2):c.1241C>T (p.Pro414Leu)
|
rs61753014
|
|
NM_001142864.4(PIEZO1):c.64+12G>T
|
rs1207737714
|
|
NM_001143992.2(WRAP53):c.1565C>G (p.Ala522Gly)
|
rs7640
|
|
NM_001358263.1(HK1):c.75+23del
|
rs111682217
|
|
NM_001360016.2(G6PD):c.486-34del
|
rs3216174
|
|
NM_001614.5(ACTG1):c.124-8C>T
|
rs201279208
|
|
NM_002471.4(MYH6):c.3609C>G (p.Ala1203=)
|
rs149369904
|
|
NM_002471.4(MYH6):c.3979-9C>G
|
rs57660219
|
|
NM_002769.5(PRSS1):c.40+40del
|
rs748794481
|
|
NM_002890.3(RASA1):c.1454-7del
|
rs60835976
|
|
NM_002890.3(RASA1):c.2691-17del
|
rs368117332
|
|
NM_003001.5(SDHC):c.406-8G>T
|
rs747093483
|
|
NM_003126.4(SPTA1):c.6789-8del
|
rs5778083
|
|
NM_003242.6(TGFBR2):c.383del (p.Lys128fs)
|
rs79375991
|
|
NM_004006.3(DMD):c.2273A>C (p.Asp758Ala)
|
rs750526692
|
|
NM_004333.6(BRAF):c.2128-4G>T
|
rs956143558
|
|
NM_006231.4(POLE):c.3275+12_3275+37del
|
rs1057517627
|
|
NM_006912.6(RIT1):c.163+7C>T
|
rs1553229454
|
|
NM_007294.4(BRCA1):c.2232T>G (p.Ala744=)
|
rs4986846
|
|
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.81-14C>T
|
rs80358006
|
|
NM_014251.3(SLC25A13):c.848+28del
|
rs11335226
|
|
NM_015046.7(SETX):c.7200-11_7200-10del
|
rs531485265
|
|
NM_016038.4(SBDS):c.129-160T>G
|
rs368334049
|
|
NM_017780.4(CHD7):c.2614-14del
|
rs748282026
|
|
NM_017780.4(CHD7):c.5894+32C>G
|
rs41265252
|
|
NM_018062.4(FANCL):c.776-10dup
|
rs374236117
|
|
NM_020937.4(FANCM):c.4516-5_4516-2del
|
rs796584585
|
|
NM_021922.3(FANCE):c.387A>C (p.Pro129=)
|
rs4713867
|
|
NM_022489.4(INF2):c.1274C>T (p.Pro425Leu)
|
rs1555374270
|
|
NM_025099.6(CTC1):c.1241G>C (p.Gly414Ala)
|
rs62624978
|
|
NM_025099.6(CTC1):c.3072G>A (p.Gln1024=)
|
rs1279994496
|
|
NM_032444.4(SLX4):c.1163+10C>T
|
rs80116508
|
|
NM_033380.3(COL4A5):c.1032+17del
|
rs761615270
|
|
NR_001566.1(TERC):n.514A>G
|
rs2293607
|
|