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
|
|