NM_152296.5(ATP1A3):c.666T>G (p.Thr222=)
|
rs2217342
|
0.93139
|
NM_001308093.3(GATA4):c.617-113T>C
|
rs3735819
|
0.80128
|
NM_015046.7(SETX):c.3576T>G (p.Asp1192Glu)
|
rs1185193
|
0.76694
|
NM_015046.7(SETX):c.1077T>C (p.Tyr359=)
|
rs9411449
|
0.75774
|
NM_001358921.2(COQ2):c.744T>C (p.Asp248=)
|
rs6535454
|
0.74903
|
NM_015046.7(SETX):c.3754G>A (p.Gly1252Arg)
|
rs1183768
|
0.68476
|
NM_015046.7(SETX):c.4156A>G (p.Ile1386Val)
|
rs543573
|
0.68049
|
NM_001358921.2(COQ2):c.46G>T (p.Val16Leu)
|
rs6818847
|
0.62431
|
NM_014694.4(ADAMTSL2):c.2313A>G (p.Val771=)
|
rs1064975
|
0.61566
|
NM_000053.4(ATP7B):c.3419T>C (p.Val1140Ala)
|
rs1801249
|
0.57256
|
NM_000053.4(ATP7B):c.2855G>A (p.Arg952Lys)
|
rs732774
|
0.56484
|
NM_015046.7(SETX):c.7759A>G (p.Ile2587Val)
|
rs1056899
|
0.44536
|
NM_001202.6(BMP4):c.455T>C (p.Val152Ala)
|
rs17563
|
0.44424
|
NM_000311.5(PRNP):c.385A>G (p.Met129Val)
|
rs1799990
|
0.33516
|
NM_002693.3(POLG):c.3105-11T>C
|
rs2302084
|
0.32855
|
NM_015046.7(SETX):c.5563A>G (p.Thr1855Ala)
|
rs2296871
|
0.31596
|
NM_015046.7(SETX):c.5811T>C (p.Asp1937=)
|
rs2296869
|
0.31585
|
NM_032409.3(PINK1):c.1562A>C (p.Asn521Thr)
|
rs1043424
|
0.27338
|
NM_000302.4(PLOD1):c.295G>A (p.Ala99Thr)
|
rs7551175
|
0.26545
|
NM_001110556.2(FLNA):c.5850T>C (p.Ala1950=)
|
rs2070825
|
0.22980
|
NM_001358921.2(COQ2):c.840C>T (p.Ser280=)
|
rs1129617
|
0.22636
|
NM_025000.4(DCAF17):c.999A>G (p.Gln333=)
|
rs3731983
|
0.19825
|
NM_025000.4(DCAF17):c.1267-7C>T
|
rs3731981
|
0.19769
|
NM_006493.4(CLN5):c.956A>G (p.Lys319Arg)
|
rs1800209
|
0.19521
|
NM_053025.4(MYLK):c.62C>A (p.Pro21His)
|
rs28497577
|
0.17349
|
NM_014694.4(ADAMTSL2):c.1641C>T (p.His547=)
|
rs7868941
|
0.16167
|
NM_053025.4(MYLK):c.782T>C (p.Val261Ala)
|
rs3796164
|
0.15515
|
NM_000302.4(PLOD1):c.358G>T (p.Ala120Ser)
|
rs2273285
|
0.14145
|
NM_014694.4(ADAMTSL2):c.2022C>T (p.Pro674=)
|
rs534165083
|
0.12965
|
NM_014694.4(ADAMTSL2):c.2613G>A (p.Val871=)
|
rs62637566
|
0.12851
|
NM_006493.4(CLN5):c.-144C>T
|
rs77416795
|
0.12832
|
NM_000435.3(NOTCH3):c.5526T>C (p.Ala1842=)
|
rs16980398
|
0.12317
|
NM_001734.5(C1S):c.356G>A (p.Arg119His)
|
rs12146727
|
0.12113
|
NM_053025.4(MYLK):c.2582T>C (p.Leu861Pro)
|
rs3732486
|
0.11664
|
NM_001042432.2(CLN3):c.1211A>G (p.His404Arg)
|
rs77595156
|
0.11421
|
NM_000435.3(NOTCH3):c.3058G>C (p.Ala1020Pro)
|
rs35769976
|
0.10508
|
NM_002474.3(MYH11):c.987C>T (p.Thr329=)
|
rs4781689
|
0.08684
|
NM_001365276.2(TNXB):c.3764G>A (p.Arg1255His)
|
rs12211410
|
0.08362
|
NM_000435.3(NOTCH3):c.3547G>A (p.Val1183Met)
|
rs10408676
|
0.08167
|
NM_001110556.2(FLNA):c.4920G>A (p.Gly1640=)
|
rs61741041
|
0.08115
|
NM_006493.4(CLN5):c.-76A>G
|
rs7987664
|
0.07840
|
NM_001386393.1(PANK2):c.2T>A
|
rs71647828
|
0.06976
|
NM_001852.4(COL9A2):c.1741G>A (p.Val581Ile)
|
rs3737821
|
0.06797
|
NM_053025.4(MYLK):c.2742C>A (p.Asp914Glu)
|
rs3732487
|
0.06754
|
NM_021939.4(FKBP10):c.590A>G (p.Lys197Arg)
|
rs34764749
|
0.06739
|
NM_001909.5(CTSD):c.173C>T (p.Ala58Val)
|
rs17571
|
0.06134
|
NM_001008212.2(OPTN):c.293T>A (p.Met98Lys)
|
rs11258194
|
0.05969
|
NM_001110556.2(FLNA):c.6642G>C (p.Val2214=)
|
rs1064822
|
0.05512
|
NM_001257180.2(SLC20A2):c.910G>A (p.Gly304Ser)
|
rs73675069
|
0.05347
|
NM_003036.4(SKI):c.185C>G (p.Ala62Gly)
|
rs28384811
|
0.05253
|
NM_001844.5(COL2A1):c.1836T>C (p.Gly612=)
|
rs41317939
|
0.05124
|
NM_001853.4(COL9A3):c.280C>T (p.Pro94Ser)
|
rs35908728
|
0.04973
|
NM_015046.7(SETX):c.3455T>G (p.Phe1152Cys)
|
rs3739922
|
0.04708
|
NM_001854.4(COL11A1):c.2043+8G>A
|
rs2622875
|
0.04635
|
NM_005022.4(PFN1):c.334C>T (p.Leu112=)
|
rs13204
|
0.04611
|
NM_001114753.3(ENG):c.14C>T (p.Thr5Met)
|
rs35400405
|
0.04608
|
NM_000302.4(PLOD1):c.2124T>C (p.His708=)
|
rs879690
|
0.04545
|
NM_001851.6(COL9A1):c.2299A>G (p.Met767Val)
|
rs6910140
|
0.04394
|
NM_000310.4(PPT1):c.401T>C (p.Ile134Thr)
|
rs1800205
|
0.04289
|
NM_002775.5(HTRA1):c.753C>T (p.Ile251=)
|
rs17624021
|
0.04155
|
NM_001110556.2(FLNA):c.3035C>T (p.Ser1012Leu)
|
rs17091204
|
0.04081
|
NM_001110556.2(FLNA):c.5290G>A (p.Ala1764Thr)
|
rs57108893
|
0.04049
|
NM_018965.4(TREM2):c.632T>C (p.Leu211Pro)
|
rs2234256
|
0.04010
|
NM_007194.4(CHEK2):c.252A>G (p.Glu84=)
|
rs1805129
|
0.04009
|
NM_000043.6(FAS):c.46G>A (p.Ala16Thr)
|
rs3218619
|
0.03995
|
NM_001177693.2(ARHGEF28):c.4622C>G (p.Ala1541Gly)
|
rs78992879
|
0.03856
|
NM_021922.3(FANCE):c.611C>T (p.Ser204Leu)
|
rs7761870
|
0.03770
|
NM_018112.3(TMEM38B):c.761G>C (p.Cys254Ser)
|
rs35232724
|
0.03714
|
NM_007262.5(PARK7):c.234C>T (p.Gly78=)
|
rs11548937
|
0.03501
|
NM_001711.6(BGN):c.564C>T (p.Ile188=)
|
rs2070933
|
0.03463
|
NM_005902.4(SMAD3):c.508A>G (p.Ile170Val)
|
rs35874463
|
0.03414
|
NM_001851.6(COL9A1):c.1066-3T>C
|
rs16868869
|
0.03394
|
NM_004360.5(CDH1):c.48+5C>G
|
rs77312180
|
0.03370
|
NM_004629.2(FANCG):c.1133C>T (p.Ser378Leu)
|
rs4986939
|
0.03269
|
NM_001018115.3(FANCD2):c.2712C>T (p.Asn904=)
|
rs35594075
|
0.03203
|
NM_001235.5(SERPINH1):c.955-6C>A
|
rs7105575
|
0.03189
|
NM_000435.3(NOTCH3):c.6438G>A (p.Ala2146=)
|
rs1044008
|
0.03162
|
NM_000142.5(FGFR3):c.588C>T (p.Arg196=)
|
rs2305180
|
0.03125
|
NM_002474.3(MYH11):c.5370C>T (p.Leu1790=)
|
rs35295469
|
0.03116
|
NM_000096.4(CP):c.2991T>C (p.His997=)
|
rs34394958
|
0.03057
|
NM_002474.3(MYH11):c.792T>C (p.Tyr264=)
|
rs34341838
|
0.03006
|
NM_006129.5(BMP1):c.1766-5C>T
|
rs76809016
|
0.02982
|
NM_000051.4(ATM):c.3403-15T>A
|
rs79701258
|
0.02975
|
NM_004629.2(FANCG):c.890C>T (p.Thr297Ile)
|
rs2237857
|
0.02968
|
NM_030957.4(ADAMTS10):c.185G>A (p.Arg62Gln)
|
rs62621197
|
0.02952
|
NM_001018115.3(FANCD2):c.1367T>G (p.Leu456Arg)
|
rs35782247
|
0.02918
|
NM_000096.4(CP):c.2554+17G>A
|
rs35593818
|
0.02896
|
NM_000051.4(ATM):c.657T>C (p.Cys219=)
|
rs2235003
|
0.02841
|
NM_000053.4(ATP7B):c.3620A>G (p.His1207Arg)
|
rs7334118
|
0.02828
|
NM_002354.3(EPCAM):c.492-5T>C
|
rs78608315
|
0.02826
|
NM_001018115.3(FANCD2):c.2124T>C (p.Phe708=)
|
rs9809716
|
0.02768
|
NM_020975.6(RET):c.1264-5C>T
|
rs9282835
|
0.02749
|
NM_002693.3(POLG):c.3428A>G (p.Glu1143Gly)
|
rs2307441
|
0.02704
|
NM_052854.4(CREB3L1):c.1547T>G (p.Ile516Ser)
|
rs73464035
|
0.02699
|
NM_001018115.3(FANCD2):c.64+12G>C
|
rs9833228
|
0.02661
|
NM_000302.4(PLOD1):c.250G>A (p.Ala84Thr)
|
rs34878020
|
0.02621
|
NM_016038.4(SBDS):c.635T>C (p.Ile212Thr)
|
rs79344818
|
0.02573
|
NM_030957.4(ADAMTS10):c.1588-7C>G
|
rs11882422
|
0.02550
|
NM_001110556.2(FLNA):c.7224C>T (p.Gly2408=)
|
rs12008807
|
0.02548
|
NM_000435.3(NOTCH3):c.1140T>C (p.Pro380=)
|
rs61749020
|
0.02545
|
NM_000123.4(ERCC5):c.767A>G (p.Gln256Arg)
|
rs4150313
|
0.02531
|
NM_024675.4(PALB2):c.3300T>G (p.Thr1100=)
|
rs45516100
|
0.02529
|
NM_000135.4(FANCA):c.3859G>A (p.Val1287Ile)
|
rs17227354
|
0.02526
|
NM_000535.7(PMS2):c.1532C>T (p.Thr511Met)
|
rs74902811
|
0.02492
|
NM_000051.4(ATM):c.8786+8A>C
|
rs4986839
|
0.02488
|
NM_182895.5(SCARF2):c.1967C>T (p.Pro656Leu)
|
rs9680797
|
0.02487
|
NM_006493.4(CLN5):c.87C>G (p.Ala29=)
|
rs138037471
|
0.02484
|
NM_001018115.3(FANCD2):c.1868A>C (p.Gln623Pro)
|
rs36070315
|
0.02463
|
NM_003105.6(SORL1):c.237G>A (p.Arg79=)
|
rs114331262
|
0.02453
|
NM_001999.4(FBN2):c.4098A>C (p.Thr1366=)
|
rs28763943
|
0.02427
|
NM_000138.5(FBN1):c.6888G>A (p.Gln2296=)
|
rs363830
|
0.02418
|
NM_000136.3(FANCC):c.408A>G (p.Gln136=)
|
rs1800360
|
0.02397
|
NM_000249.4(MLH1):c.2152C>T (p.His718Tyr)
|
rs2020873
|
0.02345
|
NM_000138.5(FBN1):c.7819+8A>C
|
rs363838
|
0.02324
|
NM_000251.3(MSH2):c.380A>G (p.Asn127Ser)
|
rs17217772
|
0.02317
|
NM_000535.7(PMS2):c.1488C>T (p.His496=)
|
rs1805320
|
0.02307
|
NM_000501.4(ELN):c.2086+5G>C
|
rs111866046
|
0.02303
|
NM_002354.3(EPCAM):c.859-7C>T
|
rs72882786
|
0.02290
|
NM_001018115.3(FANCD2):c.2702G>T (p.Gly901Val)
|
rs35495399
|
0.02285
|
NM_203447.4(DOCK8):c.709G>A (p.Glu237Lys)
|
rs11789099
|
0.02275
|
NM_001379500.1(COL18A1):c.2781C>T (p.Pro927=)
|
rs11544970
|
0.02268
|
NM_000548.5(TSC2):c.4983C>T (p.Thr1661=)
|
rs35534817
|
0.02253
|
NM_000264.5(PTCH1):c.735A>G (p.Thr245=)
|
rs1805154
|
0.02243
|
NM_000135.4(FANCA):c.2151G>T (p.Met717Ile)
|
rs1131660
|
0.02234
|
NM_004260.4(RECQL4):c.1258+6A>T
|
rs34437789
|
0.02229
|
NM_000478.6(ALPL):c.1189+19G>T
|
rs61778393
|
0.02227
|
NM_000548.5(TSC2):c.3915G>A (p.Pro1305=)
|
rs11551373
|
0.02216
|
NM_001852.4(COL9A2):c.737C>T (p.Thr246Met)
|
rs2228565
|
0.02212
|
NM_207122.2(EXT2):c.-31+474G>A
|
rs112082531
|
0.02206
|
NM_020937.4(FANCM):c.3758A>G (p.Asn1253Ser)
|
rs45604036
|
0.02192
|
NM_000051.4(ATM):c.5497-8T>C
|
rs3092829
|
0.02183
|
NM_004628.5(XPC):c.142C>T (p.Leu48Phe)
|
rs2229089
|
0.02177
|
NM_000535.7(PMS2):c.1531A>G (p.Thr511Ala)
|
rs2228007
|
0.02174
|
NM_020937.4(FANCM):c.5627A>G (p.Asn1876Ser)
|
rs45557033
|
0.02173
|
NM_024675.4(PALB2):c.2014G>C (p.Glu672Gln)
|
rs45532440
|
0.02171
|
NM_000051.4(ATM):c.2639-17G>T
|
rs2234994
|
0.02161
|
NM_000051.4(ATM):c.4138C>T (p.His1380Tyr)
|
rs3092856
|
0.02156
|
NM_000096.4(CP):c.1652C>T (p.Thr551Ile)
|
rs61733458
|
0.02154
|
NM_000222.3(KIT):c.2394C>T (p.Ile798=)
|
rs55789615
|
0.02125
|
NM_015046.7(SETX):c.498+20G>A
|
rs73659013
|
0.02106
|
NM_004260.4(RECQL4):c.1565G>A (p.Arg522His)
|
rs35842750
|
0.02097
|
NM_004260.4(RECQL4):c.3393+9A>G
|
rs4251692
|
0.02095
|
NM_000142.5(FGFR3):c.1076-17C>T
|
rs17881967
|
0.02051
|
NM_001110556.2(FLNA):c.3270C>T (p.Ile1090=)
|
rs79391751
|
0.02044
|
NM_002608.4(PDGFB):c.453C>G (p.Val151=)
|
rs55634318
|
0.02038
|
NM_002485.5(NBN):c.2082T>G (p.Pro694=)
|
rs7823648
|
0.02020
|
NM_001018115.3(FANCD2):c.516A>G (p.Ile172Met)
|
rs35173688
|
0.02009
|
NM_001365276.2(TNXB):c.10673G>A (p.Arg3558His)
|
rs41267126
|
0.02004
|
NM_020937.4(FANCM):c.229A>G (p.Thr77Ala)
|
rs61746895
|
0.01981
|
NM_002609.4(PDGFRB):c.1453G>A (p.Glu485Lys)
|
rs41287110
|
0.01976
|
NM_000251.3(MSH2):c.573C>T (p.Leu191=)
|
rs1800151
|
0.01972
|
NM_001844.5(COL2A1):c.610-7G>A
|
rs7967258
|
0.01915
|
NM_032638.5(GATA2):c.1233G>A (p.Ala411=)
|
rs34172218
|
0.01909
|
NM_006059.4(LAMC3):c.2559C>T (p.Ser853=)
|
rs34652877
|
0.01902
|
NM_152281.3(GORAB):c.62-3T>C
|
rs73029138
|
0.01889
|
NM_080680.3(COL11A2):c.5165C>T (p.Pro1722Leu)
|
rs2229792
|
0.01881
|
NM_022725.4(FANCF):c.825G>A (p.Leu275=)
|
rs36045913
|
0.01879
|
NM_032444.4(SLX4):c.2824G>C (p.Glu942Gln)
|
rs114014006
|
0.01879
|
NM_017617.5(NOTCH1):c.6853G>A (p.Val2285Ile)
|
rs61751489
|
0.01849
|
NM_015046.7(SETX):c.6106+14G>A
|
rs73661157
|
0.01840
|
NM_006502.3(POLH):c.1783A>G (p.Met595Val)
|
rs9333555
|
0.01768
|
NM_000142.5(FGFR3):c.348C>T (p.Arg116=)
|
rs2305179
|
0.01752
|
NM_024675.4(PALB2):c.2993G>A (p.Gly998Glu)
|
rs45551636
|
0.01717
|
NM_000251.3(MSH2):c.965G>A (p.Gly322Asp)
|
rs4987188
|
0.01714
|
NM_001852.4(COL9A2):c.955-4C>G
|
rs118135975
|
0.01678
|
NM_025137.4(SPG11):c.1108G>A (p.Glu370Lys)
|
rs77697105
|
0.01678
|
NM_000548.5(TSC2):c.3986G>A (p.Arg1329His)
|
rs45517323
|
0.01675
|
NM_000142.5(FGFR3):c.1075+5C>T
|
rs3135885
|
0.01659
|
NM_017617.5(NOTCH1):c.3836G>A (p.Arg1279His)
|
rs61751543
|
0.01655
|
NM_000535.7(PMS2):c.1866G>A (p.Met622Ile)
|
rs1805324
|
0.01651
|
NM_000112.4(SLC26A2):c.1474C>T (p.Arg492Trp)
|
rs78676079
|
0.01642
|
NM_004360.5(CDH1):c.2634C>T (p.Gly878=)
|
rs2229044
|
0.01638
|
NM_000546.6(TP53):c.993+12T>C
|
rs1800899
|
0.01614
|
NM_020937.4(FANCM):c.4799C>T (p.Thr1600Ile)
|
rs61746943
|
0.01614
|
NM_152296.5(ATP1A3):c.994-20T>G
|
rs138485069
|
0.01603
|
NM_004304.5(ALK):c.2039C>T (p.Thr680Ile)
|
rs35228363
|
0.01598
|
NM_007194.4(CHEK2):c.1542+11T>A
|
rs17881716
|
0.01583
|
NM_021939.4(FKBP10):c.1400-4C>G
|
rs114199361
|
0.01571
|
NM_020975.6(RET):c.2944C>T (p.Arg982Cys)
|
rs17158558
|
0.01567
|
NM_000435.3(NOTCH3):c.3399C>A (p.His1133Gln)
|
rs112197217
|
0.01566
|
NM_000393.5(COL5A2):c.2498C>T (p.Pro833Leu)
|
rs116298748
|
0.01542
|
NM_000435.3(NOTCH3):c.6102C>T (p.Pro2034=)
|
rs114887570
|
0.01539
|
NM_001257180.2(SLC20A2):c.1438G>A (p.Ala480Thr)
|
rs79577461
|
0.01539
|
NM_004168.4(SDHA):c.1664-8G>A
|
rs199790689
|
0.01533
|
NM_017617.5(NOTCH1):c.4129C>T (p.Pro1377Ser)
|
rs61751542
|
0.01511
|
NM_000428.3(LTBP2):c.3262G>A (p.Gly1088Ser)
|
rs61505039
|
0.01509
|
NM_001110556.2(FLNA):c.1286C>T (p.Thr429Met)
|
rs36051194
|
0.01499
|
NM_000136.3(FANCC):c.416G>A (p.Gly139Glu)
|
rs1800362
|
0.01494
|
NM_198241.3(EIF4G1):c.4386C>T (p.Asp1462=)
|
rs112718796
|
0.01477
|
NM_013254.4(TBK1):c.1391T>C (p.Val464Ala)
|
rs35635889
|
0.01470
|
NM_000136.3(FANCC):c.843+4C>T
|
rs4647506
|
0.01468
|
NM_005902.4(SMAD3):c.870C>T (p.Ile290=)
|
rs117185005
|
0.01464
|
NM_003738.5(PTCH2):c.2127C>T (p.Asp709=)
|
rs11573587
|
0.01447
|
NM_015046.7(SETX):c.2975A>G (p.Lys992Arg)
|
rs61742937
|
0.01445
|
NM_014967.5(FAN1):c.1851C>T (p.Ser617=)
|
rs118060760
|
0.01439
|
NM_001114753.3(ENG):c.1794T>C (p.Gly598=)
|
rs41358947
|
0.01435
|
NM_000251.3(MSH2):c.1077-10T>C
|
rs17224360
|
0.01428
|
NM_003238.6(TGFB2):c.643+7A>C
|
rs7531245
|
0.01418
|
NM_198241.3(EIF4G1):c.4251C>T (p.Val1417=)
|
rs76779558
|
0.01418
|
NM_006231.4(POLE):c.6418G>A (p.Glu2140Lys)
|
rs5745066
|
0.01416
|
NM_031885.5(BBS2):c.1413A>C (p.Val471=)
|
rs35294865
|
0.01415
|
NM_000051.4(ATM):c.2685A>G (p.Leu895=)
|
rs3218687
|
0.01393
|
NM_000179.3(MSH6):c.1164C>T (p.His388=)
|
rs55708305
|
0.01384
|
NM_006493.4(CLN5):c.381T>G (p.Thr127=)
|
rs34481987
|
0.01377
|
NM_004304.5(ALK):c.952+16C>T
|
rs112736234
|
0.01371
|
NM_198253.3(TERT):c.3184G>A (p.Ala1062Thr)
|
rs35719940
|
0.01370
|
NM_001382430.1(AKT1):c.567+14G>A
|
rs3730345
|
0.01364
|
NM_000179.3(MSH6):c.2272C>T (p.Leu758=)
|
rs56371757
|
0.01363
|
NM_001844.5(COL2A1):c.1266+7G>A
|
rs41317915
|
0.01359
|
NM_000368.5(TSC1):c.1760A>G (p.Lys587Arg)
|
rs118203576
|
0.01347
|
NM_006231.4(POLE):c.91G>T (p.Ala31Ser)
|
rs34047482
|
0.01320
|
NM_004082.5(DCTN1):c.1484G>A (p.Arg495Gln)
|
rs17721059
|
0.01316
|
NM_052854.4(CREB3L1):c.454G>A (p.Ala152Thr)
|
rs199951144
|
0.01311
|
NM_001370259.2(MEN1):c.512G>A (p.Arg171Gln)
|
rs607969
|
0.01309
|
NM_025137.4(SPG11):c.2083G>A (p.Ala695Thr)
|
rs78183930
|
0.01302
|
NM_015046.7(SETX):c.6507G>A (p.Gly2169=)
|
rs34073320
|
0.01300
|
NM_000548.5(TSC2):c.3883+8C>G
|
rs45517316
|
0.01297
|
NM_025137.4(SPG11):c.1348A>G (p.Ile450Val)
|
rs3759873
|
0.01282
|
NM_025137.4(SPG11):c.6330G>A (p.Gly2110=)
|
rs35932349
|
0.01279
|
NM_001909.5(CTSD):c.1215C>A (p.Gly405=)
|
rs138733377
|
0.01277
|
NM_000546.6(TP53):c.639A>G (p.Arg213=)
|
rs1800372
|
0.01275
|
NM_000435.3(NOTCH3):c.1487C>T (p.Pro496Leu)
|
rs11670799
|
0.01273
|
NM_025137.4(SPG11):c.1347C>T (p.Thr449=)
|
rs3759874
|
0.01269
|
NM_014967.5(FAN1):c.2680C>T (p.Pro894Ser)
|
rs80120912
|
0.01243
|
NM_000096.4(CP):c.2378G>A (p.Arg793His)
|
rs115552500
|
0.01239
|
NM_006218.4(PIK3CA):c.3075C>T (p.Thr1025=)
|
rs17849079
|
0.01239
|
NM_025137.4(SPG11):c.1698T>G (p.Asp566Glu)
|
rs79708848
|
0.01235
|
NM_000051.4(ATM):c.3118A>G (p.Met1040Val)
|
rs3092857
|
0.01233
|
NM_002335.4(LRP5):c.4788C>T (p.Thr1596=)
|
rs113442867
|
0.01233
|
NM_152383.5(DIS3L2):c.1488T>C (p.His496=)
|
rs72998118
|
0.01233
|
NM_005236.3(ERCC4):c.2624A>G (p.Glu875Gly)
|
rs1800124
|
0.01216
|
NM_001844.5(COL2A1):c.2484G>C (p.Gly828=)
|
rs1793940
|
0.01213
|
NM_000548.5(TSC2):c.1100G>A (p.Arg367Gln)
|
rs1800725
|
0.01203
|
NM_152296.5(ATP1A3):c.2264-16C>T
|
rs149116776
|
0.01189
|
NM_000094.4(COL7A1):c.6696C>A (p.Pro2232=)
|
rs61729223
|
0.01181
|
NM_152383.5(DIS3L2):c.426C>T (p.Pro142=)
|
rs73001172
|
0.01166
|
NM_022725.4(FANCF):c.959C>T (p.Pro320Leu)
|
rs45451294
|
0.01158
|
NM_006129.5(BMP1):c.2450T>C (p.Val817Ala)
|
rs80019749
|
0.01155
|
NM_000051.4(ATM):c.4258C>T (p.Leu1420Phe)
|
rs1800058
|
0.01150
|
NM_006231.4(POLE):c.2174-8G>A
|
rs117409343
|
0.01137
|
NM_015294.6(TRIM37):c.861-6C>T
|
rs145324030
|
0.01135
|
NM_017617.5(NOTCH1):c.2691C>T (p.Ala897=)
|
rs11574895
|
0.01135
|
NM_001711.6(BGN):c.257A>G (p.Lys86Arg)
|
rs146073993
|
0.01131
|
NM_005591.4(MRE11):c.1994+10G>A
|
rs1805366
|
0.01130
|
NM_017763.6(RNF43):c.2280G>A (p.Pro760=)
|
rs61746279
|
0.01112
|
NM_002878.4(RAD51D):c.698A>G (p.Glu233Gly)
|
rs28363284
|
0.01102
|
NM_001048174.2(MUTYH):c.1517G>A (p.Arg506Gln)
|
rs3219497
|
0.01092
|
NM_000264.5(PTCH1):c.2199A>G (p.Ser733=)
|
rs2227970
|
0.01091
|
NM_000051.4(ATM):c.735C>T (p.Val245=)
|
rs3218674
|
0.01085
|
NM_002335.4(LRP5):c.3918G>A (p.Ala1306=)
|
rs11574425
|
0.01064
|
NM_000157.4(GBA1):c.1093G>A (p.Glu365Lys)
|
rs2230288
|
0.01061
|
NM_005633.4(SOS1):c.1203-20T>C
|
rs112906251
|
0.01058
|
NM_000271.5(NPC1):c.709C>T (p.Pro237Ser)
|
rs80358251
|
0.01055
|
NM_000138.5(FBN1):c.3294C>T (p.Asp1098=)
|
rs140587
|
0.01051
|
NM_004260.4(RECQL4):c.161A>G (p.Gln54Arg)
|
rs35198096
|
0.01041
|
NM_002834.5(PTPN11):c.525+12G>C
|
rs41304351
|
0.01035
|
NM_003072.5(SMARCA4):c.1114T>C (p.Tyr372His)
|
rs140192268
|
0.01034
|
NM_003924.4(PHOX2B):c.552C>T (p.Ser184=)
|
rs17885216
|
0.01029
|
NM_001382430.1(AKT1):c.1251C>T (p.Tyr417=)
|
rs139297659
|
0.01008
|
NM_198428.3(BBS9):c.2299-20A>C
|
rs17727583
|
0.01007
|
NM_000535.7(PMS2):c.1789A>T (p.Thr597Ser)
|
rs1805318
|
0.01006
|
NM_001114753.3(ENG):c.572G>A (p.Gly191Asp)
|
rs41322046
|
0.01000
|
NM_001048174.2(MUTYH):c.1460C>T (p.Ser487Phe)
|
rs140118273
|
0.00997
|
NM_001288705.3(CSF1R):c.1237G>A (p.Gly413Ser)
|
rs34951517
|
0.00996
|
NM_001457.4(FLNB):c.6017A>G (p.Lys2006Arg)
|
rs62621996
|
0.00994
|
NM_198241.3(EIF4G1):c.4383C>T (p.Phe1461=)
|
rs111921843
|
0.00983
|
NM_006059.4(LAMC3):c.454C>T (p.Arg152Cys)
|
rs45628035
|
0.00975
|
NM_000546.6(TP53):c.108G>A (p.Pro36=)
|
rs1800370
|
0.00974
|
NM_000093.5(COL5A1):c.2852A>G (p.Asn951Ser)
|
rs61736966
|
0.00972
|
NM_006767.4(LZTR1):c.2219+13C>T
|
rs144005025
|
0.00972
|
NM_032444.4(SLX4):c.1153C>A (p.Pro385Thr)
|
rs115694169
|
0.00968
|
NM_001367624.2(ZNF469):c.9004A>C (p.Met3002Leu)
|
rs141776185
|
0.00951
|
NM_000548.5(TSC2):c.5321G>C (p.Ser1774Thr)
|
rs9209
|
0.00948
|
NM_001972.4(ELANE):c.655G>A (p.Val219Ile)
|
rs17216656
|
0.00945
|
NM_005236.3(ERCC4):c.252C>T (p.Leu84=)
|
rs3136056
|
0.00941
|
NM_000123.4(ERCC5):c.960C>T (p.Asp320=)
|
rs4150314
|
0.00931
|
NM_014822.4(SEC24D):c.653C>G (p.Ala218Gly)
|
rs35392900
|
0.00928
|
NM_000249.4(MLH1):c.1732-19T>A
|
rs77120160
|
0.00923
|
NM_003000.3(SDHB):c.487T>C (p.Ser163Pro)
|
rs33927012
|
0.00921
|
NM_000038.6(APC):c.2608C>T (p.Pro870Ser)
|
rs33974176
|
0.00917
|
NM_000249.4(MLH1):c.1959G>T (p.Leu653=)
|
rs1800146
|
0.00913
|
NM_000245.4(MET):c.2975C>T (p.Thr992Ile)
|
rs56391007
|
0.00911
|
NM_006493.4(CLN5):c.579C>A (p.Asn193Lys)
|
rs138611001
|
0.00910
|
NM_014822.4(SEC24D):c.1576C>T (p.Leu526Phe)
|
rs141180741
|
0.00908
|
NM_001040108.2(MLH3):c.8A>G (p.Lys3Arg)
|
rs114829239
|
0.00905
|
NM_006231.4(POLE):c.5804G>A (p.Cys1935Tyr)
|
rs5744991
|
0.00898
|
NM_017617.5(NOTCH1):c.5011G>A (p.Val1671Ile)
|
rs2229968
|
0.00898
|
NM_001999.4(FBN2):c.1466-5C>T
|
rs28763952
|
0.00887
|
NM_001114753.3(ENG):c.1374A>G (p.Pro458=)
|
rs34828244
|
0.00879
|
NM_004629.2(FANCG):c.1538G>A (p.Arg513Gln)
|
rs17885240
|
0.00863
|
NM_000051.4(ATM):c.2572T>C (p.Phe858Leu)
|
rs1800056
|
0.00861
|
NM_000535.7(PMS2):c.52A>G (p.Ile18Val)
|
rs63750123
|
0.00861
|
NM_016734.3(PAX5):c.964G>A (p.Ala322Thr)
|
rs34810717
|
0.00861
|
NM_152618.3(BBS12):c.714T>G (p.Asn238Lys)
|
rs17006082
|
0.00860
|
NM_032638.5(GATA2):c.481C>G (p.Pro161Ala)
|
rs34799090
|
0.00854
|
NM_033305.3(VPS13A):c.6880-19G>C
|
rs183040221
|
0.00852
|
NM_139057.4(ADAMTS17):c.1651G>A (p.Ala551Thr)
|
rs61754841
|
0.00851
|
NM_032444.4(SLX4):c.710G>A (p.Arg237Gln)
|
rs138615800
|
0.00848
|
NM_001853.4(COL9A3):c.308G>A (p.Arg103Gln)
|
rs142639450
|
0.00847
|
NM_000088.4(COL1A1):c.1615-4C>A
|
rs41316657
|
0.00846
|
NM_025137.4(SPG11):c.808G>A (p.Val270Ile)
|
rs80338868
|
0.00845
|
NM_001853.4(COL9A3):c.520-6C>T
|
rs45476191
|
0.00844
|
NM_000435.3(NOTCH3):c.5854G>A (p.Val1952Met)
|
rs115582213
|
0.00841
|
NM_002775.5(HTRA1):c.59C>T (p.Ala20Val)
|
rs369149111
|
0.00841
|
NM_002609.4(PDGFRB):c.1033C>T (p.Pro345Ser)
|
rs2229558
|
0.00834
|
NM_020937.4(FANCM):c.5224A>G (p.Ile1742Val)
|
rs143662421
|
0.00824
|
NM_004385.5(VCAN):c.7419C>T (p.Ser2473=)
|
rs61754536
|
0.00819
|
NM_000249.4(MLH1):c.637G>A (p.Val213Met)
|
rs2308317
|
0.00818
|
NM_000478.6(ALPL):c.455G>A (p.Arg152His)
|
rs149344982
|
0.00814
|
NM_003072.5(SMARCA4):c.4768+15G>C
|
rs113131294
|
0.00813
|
NM_000428.3(LTBP2):c.1553G>T (p.Ser518Ile)
|
rs137854857
|
0.00812
|
NM_003332.4(TYROBP):c.163G>T (p.Val55Leu)
|
rs77782321
|
0.00810
|
NM_002609.4(PDGFRB):c.1149G>C (p.Leu383=)
|
rs2228439
|
0.00793
|
NM_005633.4(SOS1):c.1964C>T (p.Pro655Leu)
|
rs56219475
|
0.00787
|
NM_001999.4(FBN2):c.3166G>T (p.Ala1056Ser)
|
rs28763945
|
0.00784
|
NM_003105.6(SORL1):c.3295T>C (p.Phe1099Leu)
|
rs146903951
|
0.00784
|
NM_177438.3(DICER1):c.2370G>A (p.Arg790=)
|
rs112712209
|
0.00777
|
NM_000141.5(FGFR2):c.294G>A (p.Thr98=)
|
rs1047101
|
0.00776
|
NM_000393.5(COL5A2):c.1104+15T>C
|
rs75486409
|
0.00772
|
NM_000393.5(COL5A2):c.975C>T (p.Pro325=)
|
rs144344474
|
0.00770
|
NM_000428.3(LTBP2):c.4769T>C (p.Val1590Ala)
|
rs139932140
|
0.00769
|
NM_006218.4(PIK3CA):c.363C>T (p.Ile121=)
|
rs115746478
|
0.00769
|
NM_001367624.2(ZNF469):c.2085C>T (p.Pro695=)
|
rs74547407
|
0.00765
|
NM_002335.4(LRP5):c.3564G>A (p.Arg1188=)
|
rs117289001
|
0.00762
|
NM_000548.5(TSC2):c.3914C>T (p.Pro1305Leu)
|
rs45517320
|
0.00758
|
NM_000051.4(ATM):c.544G>C (p.Val182Leu)
|
rs3218707
|
0.00757
|
NM_017617.5(NOTCH1):c.3780G>C (p.Val1260=)
|
rs201354526
|
0.00754
|
NM_022356.4(P3H1):c.611C>A (p.Pro204His)
|
rs77208721
|
0.00751
|
NM_002474.3(MYH11):c.4158C>T (p.Thr1386=)
|
rs112377790
|
0.00746
|
NM_001288705.3(CSF1R):c.2709C>T (p.Phe903=)
|
rs41287094
|
0.00742
|
NM_001457.4(FLNB):c.6956T>C (p.Ile2319Thr)
|
rs116826041
|
0.00739
|
NM_001110556.2(FLNA):c.3690C>T (p.Thr1230=)
|
rs35015603
|
0.00732
|
NM_001844.5(COL2A1):c.213C>T (p.Asp71=)
|
rs112469769
|
0.00730
|
NM_144997.7(FLCN):c.1538+14T>G
|
rs112111994
|
0.00721
|
NM_018965.4(TREM2):c.185G>A (p.Arg62His)
|
rs143332484
|
0.00714
|
NM_001276270.2(MBD4):c.1073T>C (p.Ile358Thr)
|
rs2307298
|
0.00713
|
NM_000051.4(ATM):c.146C>G (p.Ser49Cys)
|
rs1800054
|
0.00712
|
NM_001113378.2(FANCI):c.1813C>T (p.Leu605Phe)
|
rs117125761
|
0.00708
|
NM_002691.4(POLD1):c.88C>T (p.Arg30Trp)
|
rs3218772
|
0.00706
|
NM_003002.4(SDHD):c.34G>A (p.Gly12Ser)
|
rs34677591
|
0.00706
|
NM_000038.6(APC):c.4326T>A (p.Pro1442=)
|
rs67622085
|
0.00705
|
NM_000368.5(TSC1):c.3324C>T (p.Gly1108=)
|
rs35593170
|
0.00704
|
NM_001110556.2(FLNA):c.6742C>T (p.Leu2248=)
|
rs113510895
|
0.00698
|
NM_007262.5(PARK7):c.293G>A (p.Arg98Gln)
|
rs71653619
|
0.00688
|
NM_033028.5(BBS4):c.137A>G (p.Lys46Arg)
|
rs75295839
|
0.00687
|
NM_080680.3(COL11A2):c.1782C>T (p.Asp594=)
|
rs41266697
|
0.00686
|
NM_003002.4(SDHD):c.149A>G (p.His50Arg)
|
rs11214077
|
0.00679
|
NM_032444.4(SLX4):c.2924C>T (p.Pro975Leu)
|
rs114472821
|
0.00679
|
NM_000038.6(APC):c.5265G>A (p.Ala1755=)
|
rs34506289
|
0.00675
|
NM_033305.3(VPS13A):c.8676C>T (p.Ile2892=)
|
rs117485827
|
0.00672
|
NM_004629.2(FANCG):c.988C>T (p.Pro330Ser)
|
rs4986940
|
0.00670
|
NM_000302.4(PLOD1):c.1141G>A (p.Val381Met)
|
rs2230896
|
0.00668
|
NM_024426.6(WT1):c.785-20G>T
|
rs5030168
|
0.00663
|
NM_000142.5(FGFR3):c.1076-13C>T
|
rs114754024
|
0.00661
|
NM_000791.4(DHFR):c.-259C>T
|
rs6151597
|
0.00658
|
NM_005633.4(SOS1):c.1074+5G>C
|
rs145155424
|
0.00655
|
NM_001999.4(FBN2):c.976C>T (p.Pro326Ser)
|
rs28763954
|
0.00654
|
NM_058216.3(RAD51C):c.859A>G (p.Thr287Ala)
|
rs28363317
|
0.00653
|
NM_000051.4(ATM):c.6235G>A (p.Val2079Ile)
|
rs1800060
|
0.00649
|
NM_003738.5(PTCH2):c.1080G>T (p.Val360=)
|
rs11573579
|
0.00649
|
NM_032444.4(SLX4):c.1803G>A (p.Ser601=)
|
rs144892556
|
0.00649
|
NM_016169.4(SUFU):c.1018G>T (p.Ala340Ser)
|
rs34135067
|
0.00646
|
NM_006059.4(LAMC3):c.146A>G (p.Gln49Arg)
|
rs201962705
|
0.00645
|
NM_003742.4(ABCB11):c.3330G>A (p.Ala1110=)
|
rs113099601
|
0.00643
|
NM_032444.4(SLX4):c.1755C>T (p.Pro585=)
|
rs114016359
|
0.00638
|
NM_053025.4(MYLK):c.2101G>A (p.Ala701Thr)
|
rs142835596
|
0.00637
|
NM_000455.5(STK11):c.369G>A (p.Gln123=)
|
rs140112347
|
0.00636
|
NM_003332.4(TYROBP):c.94+10G>C
|
rs55746266
|
0.00630
|
NM_000071.3(CBS):c.1145+7C>T
|
rs201158177
|
0.00620
|
NM_000071.3(CBS):c.573G>A (p.Thr191=)
|
rs73906420
|
0.00615
|
NM_033305.3(VPS13A):c.9400-15A>C
|
rs117688596
|
0.00615
|
NM_000051.4(ATM):c.5793T>C (p.Ala1931=)
|
rs3092910
|
0.00608
|
NM_001048174.2(MUTYH):c.1347G>C (p.Thr449=)
|
rs74318065
|
0.00596
|
NM_000548.5(TSC2):c.3422C>T (p.Ala1141Val)
|
rs34870424
|
0.00587
|
NM_022089.4(ATP13A2):c.1195+10G>A
|
rs55689004
|
0.00585
|
NM_000038.6(APC):c.1959G>A (p.Arg653=)
|
rs72541809
|
0.00583
|
NM_007356.3(LAMB4):c.350G>C (p.Arg117Thr)
|
rs149874137
|
0.00583
|
NM_033305.3(VPS13A):c.3645C>A (p.Ala1215=)
|
rs138687767
|
0.00582
|
NM_000088.4(COL1A1):c.4113G>A (p.Lys1371=)
|
rs41316723
|
0.00578
|
NM_001999.4(FBN2):c.3762C>T (p.Asp1254=)
|
rs2279582
|
0.00570
|
NM_003036.4(SKI):c.1446G>A (p.Ala482=)
|
rs114345135
|
0.00570
|
NM_014822.4(SEC24D):c.578C>T (p.Pro193Leu)
|
rs6844109
|
0.00569
|
NM_000051.4(ATM):c.186-7C>T
|
rs55674039
|
0.00568
|
NM_000179.3(MSH6):c.1186C>G (p.Leu396Val)
|
rs2020908
|
0.00565
|
NM_004260.4(RECQL4):c.309G>A (p.Pro103=)
|
rs4251688
|
0.00564
|
NM_000138.5(FBN1):c.5343G>A (p.Val1781=)
|
rs140649
|
0.00561
|
NM_017617.5(NOTCH1):c.5124G>T (p.Ser1708=)
|
rs35980907
|
0.00561
|
NM_001909.5(CTSD):c.1072-7G>A
|
rs149019571
|
0.00560
|
NM_012200.4(B3GAT3):c.821C>A (p.Thr274Asn)
|
rs112223093
|
0.00560
|
NM_017617.5(NOTCH1):c.6991G>A (p.Ala2331Thr)
|
rs111309246
|
0.00557
|
NM_000138.5(FBN1):c.2855-9C>T
|
rs140590
|
0.00556
|
NM_006231.4(POLE):c.6494G>A (p.Arg2165His)
|
rs5745068
|
0.00550
|
NM_006767.4(LZTR1):c.1209C>T (p.Phe403=)
|
rs145833752
|
0.00550
|
NM_003072.5(SMARCA4):c.1419+7T>C
|
rs112977340
|
0.00546
|
NM_176824.3(BBS7):c.1512-7A>T
|
rs115987385
|
0.00545
|
NM_003738.5(PTCH2):c.840T>C (p.Ser280=)
|
rs147627670
|
0.00534
|
NM_033305.3(VPS13A):c.4760A>G (p.Tyr1587Cys)
|
rs149840356
|
0.00532
|
NM_024675.4(PALB2):c.53A>G (p.Lys18Arg)
|
rs138789658
|
0.00530
|
NM_000447.3(PSEN2):c.1176C>T (p.Phe392=)
|
rs115652716
|
0.00524
|
NM_000051.4(ATM):c.6088A>G (p.Ile2030Val)
|
rs145847315
|
0.00517
|
NM_006231.4(POLE):c.6763A>T (p.Ile2255Phe)
|
rs73155056
|
0.00513
|
NM_058216.3(RAD51C):c.572-17G>T
|
rs193023469
|
0.00513
|
NM_000136.3(FANCC):c.77C>T (p.Ser26Phe)
|
rs1800361
|
0.00511
|
NM_198241.3(EIF4G1):c.4551C>T (p.Asp1517=)
|
rs11559218
|
0.00509
|
NM_003072.5(SMARCA4):c.2388C>T (p.Leu796=)
|
rs28997580
|
0.00508
|
NM_015909.4(NBAS):c.711T>C (p.His237=)
|
rs75347158
|
0.00508
|
NM_053025.4(MYLK):c.4764G>A (p.Pro1588=)
|
rs56056823
|
0.00499
|
NM_001854.4(COL11A1):c.2578T>A (p.Phe860Ile)
|
rs141548164
|
0.00498
|
NM_006231.4(POLE):c.1359+9G>A
|
rs75135381
|
0.00498
|
NM_001288705.3(CSF1R):c.282C>T (p.Ser94=)
|
rs41287102
|
0.00495
|
NM_017849.4(TMEM127):c.409+7C>T
|
rs189327749
|
0.00487
|
NM_002691.4(POLD1):c.1275C>T (p.Ala425=)
|
rs3219392
|
0.00486
|
NM_000142.5(FGFR3):c.663G>A (p.Ser221=)
|
rs114421370
|
0.00485
|
NM_004370.6(COL12A1):c.9083G>A (p.Arg3028His)
|
rs41266761
|
0.00484
|
NM_015046.7(SETX):c.4755T>G (p.Pro1585=)
|
rs151237267
|
0.00484
|
NM_018112.3(TMEM38B):c.113-7A>G
|
rs186864213
|
0.00484
|
NM_002137.4(HNRNPA2B1):c.645T>C (p.Phe215=)
|
rs117082250
|
0.00481
|
NM_003105.6(SORL1):c.5439T>A (p.His1813Gln)
|
rs62622819
|
0.00480
|
NM_203447.4(DOCK8):c.3573C>T (p.Ser1191=)
|
rs13285348
|
0.00471
|
NM_001909.5(CTSD):c.353-12C>T
|
rs141523461
|
0.00468
|
NM_001367624.2(ZNF469):c.5414C>A (p.Pro1805His)
|
rs78446958
|
0.00467
|
NM_002485.5(NBN):c.1882G>A (p.Glu628Lys)
|
rs115321485
|
0.00466
|
NM_000368.5(TSC1):c.3282G>A (p.Glu1094=)
|
rs116747861
|
0.00461
|
NM_003000.3(SDHB):c.24C>T (p.Ser8=)
|
rs148738139
|
0.00461
|
NM_012186.3(FOXE3):c.587G>C (p.Gly196Ala)
|
rs281865461
|
0.00458
|
NM_001844.5(COL2A1):c.1221C>T (p.Ser407=)
|
rs150865922
|
0.00456
|
NM_024675.4(PALB2):c.2794G>A (p.Val932Met)
|
rs45624036
|
0.00449
|
NM_001110556.2(FLNA):c.1176G>A (p.Glu392=)
|
rs201173693
|
0.00446
|
NM_000138.5(FBN1):c.6594C>T (p.Pro2198=)
|
rs111844882
|
0.00439
|
NM_006258.4(PRKG1):c.426C>T (p.Asp142=)
|
rs55754654
|
0.00439
|
NM_000138.5(FBN1):c.1746C>T (p.Cys582=)
|
rs112366266
|
0.00436
|
NM_001457.4(FLNB):c.4872C>T (p.Ile1624=)
|
rs147426569
|
0.00436
|
NM_000096.4(CP):c.2522C>G (p.Thr841Arg)
|
rs56033670
|
0.00435
|
NM_000138.5(FBN1):c.4905C>G (p.Thr1635=)
|
rs113115949
|
0.00435
|
NM_000057.4(BLM):c.410A>G (p.Lys137Arg)
|
rs28384988
|
0.00434
|
NM_000179.3(MSH6):c.457+13A>G
|
rs1800933
|
0.00434
|
NM_004656.4(BAP1):c.2057-4G>T
|
rs149499021
|
0.00433
|
NM_000088.4(COL1A1):c.4281T>C (p.Ile1427=)
|
rs41316725
|
0.00431
|
NM_015046.7(SETX):c.7640T>C (p.Ile2547Thr)
|
rs151117904
|
0.00431
|
NM_004168.4(SDHA):c.969C>T (p.Gly323=)
|
rs142849100
|
0.00430
|
NM_000179.3(MSH6):c.1345C>T (p.Leu449=)
|
rs3136333
|
0.00429
|
NM_004260.4(RECQL4):c.1090G>A (p.Val364Met)
|
rs144637135
|
0.00427
|
NM_002317.7(LOX):c.740+6G>A
|
rs41478244
|
0.00424
|
NM_031885.5(BBS2):c.805-20A>G
|
rs41280892
|
0.00423
|
NM_001999.4(FBN2):c.6615C>T (p.Asp2205=)
|
rs28763931
|
0.00422
|
NM_002608.4(PDGFB):c.635C>T (p.Thr212Met)
|
rs114786489
|
0.00422
|
NM_000245.4(MET):c.504G>T (p.Glu168Asp)
|
rs55985569
|
0.00420
|
NM_030957.4(ADAMTS10):c.217G>A (p.Glu73Lys)
|
rs61750006
|
0.00419
|
NM_003036.4(SKI):c.1834C>T (p.Leu612=)
|
rs35833638
|
0.00418
|
NM_015909.4(NBAS):c.3282T>C (p.His1094=)
|
rs139891797
|
0.00418
|
NM_001257180.2(SLC20A2):c.345G>A (p.Thr115=)
|
rs34124953
|
0.00417
|
NM_033305.3(VPS13A):c.2037+8C>A
|
rs41289961
|
0.00417
|
NM_031448.6(C19orf12):c.69G>A (p.Ala23=)
|
rs201118405
|
0.00414
|
NM_203447.4(DOCK8):c.3701-17C>T
|
rs376111035
|
0.00409
|
NM_006218.4(PIK3CA):c.2298T>G (p.Leu766=)
|
rs116164892
|
0.00404
|
NM_001367624.2(ZNF469):c.7675A>G (p.Lys2559Glu)
|
rs146789160
|
0.00403
|
NM_005235.3(ERBB4):c.882A>G (p.Pro294=)
|
rs77309171
|
0.00403
|
NM_003742.4(ABCB11):c.2134T>C (p.Leu712=)
|
rs191649793
|
0.00401
|
NM_014967.5(FAN1):c.1944-4T>C
|
rs200971774
|
0.00399
|
NM_000251.3(MSH2):c.1662-9G>A
|
rs17218356
|
0.00398
|
NM_001042492.3(NF1):c.528T>A (p.Asp176Glu)
|
rs112306990
|
0.00398
|
NM_004360.5(CDH1):c.532-18C>T
|
rs200673941
|
0.00398
|
NM_014845.6(FIG4):c.27C>T (p.Ile9=)
|
rs141040807
|
0.00398
|
NM_017617.5(NOTCH1):c.6870C>T (p.Ser2290=)
|
rs61751488
|
0.00398
|
NM_033305.3(VPS13A):c.5884C>T (p.Arg1962Cys)
|
rs149694033
|
0.00397
|
NM_004655.4(AXIN2):c.1410C>T (p.His470=)
|
rs149483825
|
0.00394
|
NM_001042492.3(NF1):c.3498C>T (p.Gly1166=)
|
rs2066733
|
0.00392
|
NM_001005498.4(RHBDF2):c.1812G>A (p.Val604=)
|
rs138683747
|
0.00390
|
NM_004168.4(SDHA):c.456+20G>C
|
rs193283468
|
0.00385
|
NM_015909.4(NBAS):c.4659+12C>G
|
rs114354862
|
0.00382
|
NM_000057.4(BLM):c.1722A>G (p.Leu574=)
|
rs28385011
|
0.00379
|
NM_017617.5(NOTCH1):c.4536C>T (p.Ala1512=)
|
rs61751540
|
0.00377
|
NM_003900.5(SQSTM1):c.984G>A (p.Ser328=)
|
rs146164139
|
0.00374
|
NM_000138.5(FBN1):c.306C>T (p.Cys102=)
|
rs25388
|
0.00372
|
NM_006206.6(PDGFRA):c.2778C>T (p.Tyr926=)
|
rs138519829
|
0.00372
|
NM_000051.4(ATM):c.5497-15G>C
|
rs3092828
|
0.00363
|
NM_000135.4(FANCA):c.4249C>G (p.His1417Asp)
|
rs17227403
|
0.00362
|
NM_001114753.3(ENG):c.120C>T (p.Gly40=)
|
rs41522944
|
0.00355
|
NM_058216.3(RAD51C):c.376G>A (p.Ala126Thr)
|
rs61758784
|
0.00349
|
NM_000455.5(STK11):c.1062C>G (p.Phe354Leu)
|
rs59912467
|
0.00348
|
NM_000484.4(APP):c.2124C>T (p.Gly708=)
|
rs148888161
|
0.00348
|
NM_000535.7(PMS2):c.1266G>A (p.Glu422=)
|
rs138049175
|
0.00348
|
NM_000057.4(BLM):c.893C>T (p.Thr298Met)
|
rs28384991
|
0.00346
|
NM_182943.3(PLOD2):c.652A>G (p.Ile218Val)
|
rs145809663
|
0.00344
|
NM_000368.5(TSC1):c.2194C>T (p.His732Tyr)
|
rs118203657
|
0.00343
|
NM_017617.5(NOTCH1):c.2207+10G>A
|
rs191892426
|
0.00343
|
NM_000093.5(COL5A1):c.2439C>T (p.Asp813=)
|
rs148648778
|
0.00340
|
NM_001854.4(COL11A1):c.3979-14A>T
|
rs186245518
|
0.00338
|
NM_000142.5(FGFR3):c.1535-8G>T
|
rs111460786
|
0.00332
|
NM_000548.5(TSC2):c.729C>G (p.Leu243=)
|
rs45473698
|
0.00332
|
NM_001288705.3(CSF1R):c.95T>G (p.Val32Gly)
|
rs56048668
|
0.00332
|
NM_000053.4(ATP7B):c.2175G>A (p.Arg725=)
|
rs61733684
|
0.00329
|
NM_001999.4(FBN2):c.4141C>A (p.His1381Asn)
|
rs78727187
|
0.00327
|
NM_153365.3(TAPT1):c.1565A>G (p.Asn522Ser)
|
rs16893137
|
0.00327
|
NM_006231.4(POLE):c.4259C>T (p.Ala1420Val)
|
rs41561818
|
0.00325
|
NM_000053.4(ATP7B):c.3557-6C>T
|
rs140708492
|
0.00314
|
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_004656.4(BAP1):c.1002A>G (p.Leu334=)
|
rs28997577
|
0.00310
|
NM_020975.6(RET):c.166C>A (p.Leu56Met)
|
rs145633958
|
0.00310
|
NM_000038.6(APC):c.3471G>A (p.Glu1157=)
|
rs143927847
|
0.00308
|
NM_000548.5(TSC2):c.4285G>T (p.Ala1429Ser)
|
rs45474795
|
0.00306
|
NM_001042492.3(NF1):c.5235G>A (p.Lys1745=)
|
rs17887014
|
0.00305
|
NM_004484.4(GPC3):c.1167-8T>C
|
rs182950534
|
0.00303
|
NM_030777.4(SLC2A10):c.674G>A (p.Arg225His)
|
rs34295241
|
0.00302
|
NM_032444.4(SLX4):c.3857C>T (p.Ala1286Val)
|
rs149011965
|
0.00302
|
NM_004655.4(AXIN2):c.1530G>A (p.Thr510=)
|
rs141014640
|
0.00299
|
NM_025077.4(TOE1):c.-45G>A
|
rs2275602
|
0.00299
|
NM_003238.6(TGFB2):c.272G>A (p.Arg91His)
|
rs10482721
|
0.00297
|
NM_000053.4(ATP7B):c.2355+13T>G
|
rs139211339
|
0.00293
|
NM_005732.4(RAD50):c.3879C>T (p.Ile1293=)
|
rs28903094
|
0.00293
|
NM_022166.4(XYLT1):c.1154C>T (p.Pro385Leu)
|
rs36098987
|
0.00293
|
NM_002691.4(POLD1):c.1977C>T (p.Ile659=)
|
rs45605236
|
0.00290
|
NM_000051.4(ATM):c.3993+5G>T
|
rs3092842
|
0.00287
|
NM_000038.6(APC):c.3165A>T (p.Ile1055=)
|
rs61734287
|
0.00286
|
NM_000501.4(ELN):c.1566T>A (p.Gly522=)
|
rs61734584
|
0.00283
|
NM_017617.5(NOTCH1):c.3294C>T (p.Ser1098=)
|
rs61751546
|
0.00283
|
NM_000088.4(COL1A1):c.4179C>T (p.Ser1393=)
|
rs1800219
|
0.00281
|
NM_000264.5(PTCH1):c.109G>C (p.Gly37Arg)
|
rs199976372
|
0.00281
|
NM_001005498.4(RHBDF2):c.1396C>T (p.Arg466Trp)
|
rs143503813
|
0.00278
|
NM_001844.5(COL2A1):c.2334C>T (p.Ala778=)
|
rs35504014
|
0.00278
|
NM_003480.4(MFAP5):c.6G>A (p.Ser2=)
|
rs4132450
|
0.00272
|
NM_000141.5(FGFR2):c.170C>T (p.Ser57Leu)
|
rs56226109
|
0.00271
|
NM_004385.5(VCAN):c.1523T>A (p.Ile508Asn)
|
rs143368552
|
0.00271
|
NM_004385.5(VCAN):c.9234G>A (p.Glu3078=)
|
rs139453864
|
0.00270
|
NM_025137.4(SPG11):c.6224A>G (p.Asn2075Ser)
|
rs140824939
|
0.00270
|
NM_020919.4(ALS2):c.4119A>G (p.Ile1373Met)
|
rs61757691
|
0.00269
|
NM_005359.6(SMAD4):c.354G>A (p.Ala118=)
|
rs145988618
|
0.00268
|
NM_000393.5(COL5A2):c.2032-7G>A
|
rs141571092
|
0.00265
|
NM_031448.6(C19orf12):c.413A>G (p.Gln138Arg)
|
rs73023451
|
0.00262
|
NM_001288705.3(CSF1R):c.2799T>C (p.Gly933=)
|
rs41287092
|
0.00258
|
NM_005157.6(ABL1):c.740A>G (p.Lys247Arg)
|
rs34549764
|
0.00257
|
NM_004360.5(CDH1):c.324A>G (p.Arg108=)
|
rs116542018
|
0.00255
|
NM_198253.3(TERT):c.1812A>G (p.Ala604=)
|
rs33959226
|
0.00255
|
NM_002691.4(POLD1):c.433G>A (p.Ala145Thr)
|
rs137953986
|
0.00253
|
NM_006502.3(POLH):c.626G>T (p.Gly209Val)
|
rs2307456
|
0.00253
|
NM_001854.4(COL11A1):c.4185C>T (p.Val1395=)
|
rs112577505
|
0.00251
|
NM_031885.5(BBS2):c.1422G>A (p.Ser474=)
|
rs117033008
|
0.00250
|
NM_000088.4(COL1A1):c.1984-5C>A
|
rs66592376
|
0.00249
|
NM_001457.4(FLNB):c.4222+8A>G
|
rs190025781
|
0.00248
|
NM_000051.4(ATM):c.2921+19dup
|
rs56112367
|
0.00245
|
NM_000393.5(COL5A2):c.2562C>T (p.Asp854=)
|
rs148430780
|
0.00245
|
NM_000090.4(COL3A1):c.1927T>C (p.Leu643=)
|
rs41263757
|
0.00244
|
NM_002474.3(MYH11):c.453G>A (p.Pro151=)
|
rs61734199
|
0.00242
|
NM_000137.4(FAH):c.1259G>A (p.Ter420=)
|
rs61747586
|
0.00241
|
NM_002335.4(LRP5):c.4431C>T (p.His1477=)
|
rs11574426
|
0.00238
|
NM_000179.3(MSH6):c.3439-16C>T
|
rs192614006
|
0.00237
|
NM_004360.5(CDH1):c.345G>A (p.Thr115=)
|
rs1801023
|
0.00236
|
NM_003073.5(SMARCB1):c.628+13C>T
|
rs184021903
|
0.00235
|
NM_017617.5(NOTCH1):c.5988G>A (p.Thr1996=)
|
rs186453356
|
0.00235
|
NM_053025.4(MYLK):c.3242A>G (p.His1081Arg)
|
rs113491038
|
0.00235
|
NM_000400.4(ERCC2):c.687C>T (p.Ala229=)
|
rs34021577
|
0.00234
|
NM_003072.5(SMARCA4):c.981A>C (p.Pro327=)
|
rs547268941
|
0.00233
|
NM_003900.5(SQSTM1):c.712A>G (p.Lys238Glu)
|
rs11548633
|
0.00229
|
NM_005359.6(SMAD4):c.1086T>C (p.Phe362=)
|
rs1801250
|
0.00228
|
NM_001382430.1(AKT1):c.1020C>T (p.Tyr340=)
|
rs144088506
|
0.00224
|
NM_017617.5(NOTCH1):c.2734C>T (p.Arg912Trp)
|
rs201620358
|
0.00223
|
NM_000089.4(COL1A2):c.594+5A>T
|
rs200744314
|
0.00220
|
NM_002474.3(MYH11):c.3652-6C>T
|
rs193922630
|
0.00219
|
NM_000435.3(NOTCH3):c.4552C>A (p.Leu1518Met)
|
rs141320511
|
0.00217
|
NM_002474.3(MYH11):c.3928G>A (p.Val1310Met)
|
rs7196804
|
0.00216
|
NM_018699.4(PRDM5):c.1283-5C>T
|
rs185134294
|
0.00213
|
NM_000484.4(APP):c.2212-11_2212-10del
|
rs112965435
|
0.00206
|
NM_080680.3(COL11A2):c.4458T>A (p.Gly1486=)
|
rs143186319
|
0.00204
|
NM_024675.4(PALB2):c.721A>G (p.Asn241Asp)
|
rs113217267
|
0.00202
|
NM_007194.4(CHEK2):c.254C>T (p.Pro85Leu)
|
rs17883862
|
0.00201
|
NM_000051.4(ATM):c.162T>C (p.Tyr54=)
|
rs3218690
|
0.00200
|
NM_001113378.2(FANCI):c.3592-8T>C
|
rs185599057
|
0.00200
|
NM_004168.4(SDHA):c.1551+16C>T
|
rs184954254
|
0.00198
|
NM_002335.4(LRP5):c.4089C>T (p.Asp1363=)
|
rs3736229
|
0.00195
|
NM_003242.6(TGFBR2):c.1062C>T (p.Leu354=)
|
rs113194608
|
0.00194
|
NM_000368.5(TSC1):c.2865C>T (p.Thr955=)
|
rs45468995
|
0.00193
|
NM_024675.4(PALB2):c.1606C>T (p.Leu536=)
|
rs151162255
|
0.00193
|
NM_024675.4(PALB2):c.2256A>G (p.Gly752=)
|
rs147120218
|
0.00193
|
NM_000093.5(COL5A1):c.378G>T (p.Gln126His)
|
rs145178917
|
0.00192
|
NM_000551.4(VHL):c.340+5G>C
|
rs61758376
|
0.00190
|
NM_000249.4(MLH1):c.790+10A>G
|
rs182733777
|
0.00188
|
NM_000251.3(MSH2):c.23C>T (p.Thr8Met)
|
rs17217716
|
0.00184
|
NM_016938.5(EFEMP2):c.1188C>T (p.Ser396=)
|
rs2234473
|
0.00178
|
NM_033305.3(VPS13A):c.7457T>C (p.Ile2486Thr)
|
rs141138349
|
0.00178
|
NM_000089.4(COL1A2):c.808G>A (p.Val270Ile)
|
rs368468
|
0.00177
|
NM_017617.5(NOTCH1):c.3315G>T (p.Ala1105=)
|
rs3812602
|
0.00175
|
NM_000314.8(PTEN):c.132C>T (p.Gly44=)
|
rs150651961
|
0.00168
|
NM_004304.5(ALK):c.3594C>T (p.Leu1198=)
|
rs56071005
|
0.00166
|
NM_000089.4(COL1A2):c.2078G>A (p.Arg693Gln)
|
rs34147460
|
0.00159
|
NM_000179.3(MSH6):c.431G>T (p.Ser144Ile)
|
rs3211299
|
0.00158
|
NM_000321.3(RB1):c.380+10C>G
|
rs187110786
|
0.00158
|
NM_001999.4(FBN2):c.2940C>T (p.Cys980=)
|
rs143255082
|
0.00158
|
NM_001999.4(FBN2):c.5448A>G (p.Pro1816=)
|
rs138022198
|
0.00158
|
NM_053025.4(MYLK):c.4620-18G>A
|
rs41305835
|
0.00153
|
NM_001042492.3(NF1):c.846G>A (p.Gln282=)
|
rs138840528
|
0.00149
|
NM_000107.3(DDB2):c.127+5T>G
|
rs199965459
|
0.00148
|
NM_000138.5(FBN1):c.3069G>A (p.Lys1023=)
|
rs199789628
|
0.00148
|
NM_000138.5(FBN1):c.8502T>C (p.Thr2834=)
|
rs363847
|
0.00148
|
NM_000393.5(COL5A2):c.1618-19C>G
|
rs189970491
|
0.00148
|
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_004004.6(GJB2):c.380G>A (p.Arg127His)
|
rs111033196
|
0.00143
|
NM_004360.5(CDH1):c.1272C>T (p.Val424=)
|
rs61756284
|
0.00143
|
NM_001711.6(BGN):c.111C>T (p.Asn37=)
|
rs145819764
|
0.00141
|
NM_001457.4(FLNB):c.4929C>T (p.Ala1643=)
|
rs149070858
|
0.00140
|
NM_003072.5(SMARCA4):c.859+7T>A
|
rs141461778
|
0.00138
|
NM_002691.4(POLD1):c.2007-4G>A
|
rs202035484
|
0.00135
|
NM_001999.4(FBN2):c.8364+7A>T
|
rs185052980
|
0.00134
|
NM_012134.3(LMOD1):c.139G>T (p.Val47Leu)
|
rs200871425
|
0.00134
|
NM_004655.4(AXIN2):c.1807G>C (p.Ala603Pro)
|
rs145353986
|
0.00128
|
NM_001110556.2(FLNA):c.6023-10C>G
|
rs72616474
|
0.00127
|
NM_005188.4(CBL):c.1858C>T (p.Leu620Phe)
|
rs2227988
|
0.00121
|
NM_001999.4(FBN2):c.8304C>T (p.Asn2768=)
|
rs28763920
|
0.00120
|
NM_017617.5(NOTCH1):c.2970-20G>A
|
rs367927174
|
0.00116
|
NM_031885.5(BBS2):c.865A>G (p.Ile289Val)
|
rs150384293
|
0.00113
|
NM_032043.3(BRIP1):c.890A>G (p.Lys297Arg)
|
rs28997570
|
0.00113
|
NM_000138.5(FBN1):c.6681A>C (p.Ser2227=)
|
rs363824
|
0.00109
|
NM_000138.5(FBN1):c.2956G>A (p.Ala986Thr)
|
rs112287730
|
0.00107
|
NM_000093.5(COL5A1):c.1383C>T (p.Ile461=)
|
rs61736827
|
0.00106
|
NM_025103.4(IFT74):c.163A>T (p.Ile55Leu)
|
rs62542664
|
0.00104
|
NM_024675.4(PALB2):c.1194G>A (p.Val398=)
|
rs61755173
|
0.00103
|
NM_024675.4(PALB2):c.909C>T (p.Leu303=)
|
rs145788619
|
0.00101
|
NM_024529.5(CDC73):c.33C>T (p.Tyr11=)
|
rs150951102
|
0.00094
|
NM_000138.5(FBN1):c.783T>C (p.Asn261=)
|
rs113721547
|
0.00091
|
NM_000142.5(FGFR3):c.1349C>T (p.Thr450Met)
|
rs56240927
|
0.00083
|
NM_001999.4(FBN2):c.2427T>A (p.Ile809=)
|
rs139686090
|
0.00081
|
NM_000138.5(FBN1):c.6700G>A (p.Val2234Met)
|
rs112084407
|
0.00078
|
NM_032043.3(BRIP1):c.918+15T>A
|
rs117820198
|
0.00078
|
NM_053025.4(MYLK):c.373+18C>T
|
rs140559450
|
0.00078
|
NM_000455.5(STK11):c.*16+10G>A
|
rs587781180
|
0.00077
|
NM_000138.5(FBN1):c.510C>T (p.Tyr170=)
|
rs111671429
|
0.00076
|
NM_000264.5(PTCH1):c.3387C>T (p.Gly1129=)
|
rs28446339
|
0.00076
|
NM_005188.4(CBL):c.2269G>A (p.Ala757Thr)
|
rs146517083
|
0.00076
|
NM_000136.3(FANCC):c.816C>T (p.Ile272=)
|
rs55719336
|
0.00074
|
NM_000051.4(ATM):c.1744T>C (p.Phe582Leu)
|
rs2235006
|
0.00071
|
NM_001367624.2(ZNF469):c.5006C>T (p.Ala1669Val)
|
rs200070902
|
0.00070
|
NM_000548.5(TSC2):c.1378G>A (p.Ala460Thr)
|
rs137854154
|
0.00068
|
NM_000179.3(MSH6):c.1526T>C (p.Val509Ala)
|
rs63751005
|
0.00067
|
NM_000393.5(COL5A2):c.3837T>C (p.Ile1279=)
|
rs148795690
|
0.00065
|
NM_007126.5(VCP):c.1584C>T (p.Ala528=)
|
rs147623367
|
0.00064
|
NM_000020.3(ACVRL1):c.207C>T (p.Cys69=)
|
rs56080682
|
0.00063
|
NM_000264.5(PTCH1):c.2913T>C (p.Tyr971=)
|
rs2229062
|
0.00063
|
NM_000088.4(COL1A1):c.1461+13G>T
|
rs371161009
|
0.00061
|
NM_006371.5(CRTAP):c.641T>C (p.Val214Ala)
|
rs146124454
|
0.00061
|
NM_017617.5(NOTCH1):c.4168C>A (p.Pro1390Thr)
|
rs191645600
|
0.00061
|
NM_000093.5(COL5A1):c.341C>A (p.Ala114Asp)
|
rs147589613
|
0.00058
|
NM_000135.4(FANCA):c.4036G>A (p.Ala1346Thr)
|
rs17227396
|
0.00056
|
NM_001110556.2(FLNA):c.3915G>A (p.Thr1305=)
|
rs201488545
|
0.00056
|
NM_003000.3(SDHB):c.21C>T (p.Leu7=)
|
rs147815442
|
0.00054
|
NM_001367624.2(ZNF469):c.9555C>G (p.Ala3185=)
|
rs273585636
|
0.00052
|
NM_080680.3(COL11A2):c.3699C>T (p.Arg1233=)
|
rs151098305
|
0.00052
|
NM_000264.5(PTCH1):c.4128C>T (p.Ser1376=)
|
rs142148876
|
0.00051
|
NM_006258.4(PRKG1):c.675C>T (p.Thr225=)
|
rs142166726
|
0.00050
|
NM_000138.5(FBN1):c.5296+14G>A
|
rs140650
|
0.00045
|
NM_000251.3(MSH2):c.1886A>G (p.Gln629Arg)
|
rs61756468
|
0.00042
|
NM_001177693.2(ARHGEF28):c.4114-15A>G
|
rs372759519
|
0.00041
|
NM_001854.4(COL11A1):c.2901A>C (p.Gly967=)
|
rs149526015
|
0.00039
|
NM_000051.4(ATM):c.6919C>T (p.Leu2307Phe)
|
rs56009889
|
0.00035
|
NM_017668.3(NDE1):c.948-2788A>G
|
rs118072250
|
0.00034
|
NM_000251.3(MSH2):c.471C>A (p.Gly157=)
|
rs61756463
|
0.00029
|
NM_004360.5(CDH1):c.892G>A (p.Ala298Thr)
|
rs142822590
|
0.00028
|
NM_000090.4(COL3A1):c.3133G>A (p.Ala1045Thr)
|
rs149722210
|
0.00027
|
NM_004360.5(CDH1):c.2413G>A (p.Asp805Asn)
|
rs200894246
|
0.00026
|
NM_000546.6(TP53):c.704A>G (p.Asn235Ser)
|
rs144340710
|
0.00025
|
NM_000138.5(FBN1):c.6705A>C (p.Gly2235=)
|
rs2229326
|
0.00019
|
NM_001114753.3(ENG):c.1686+6T>G
|
rs369766351
|
0.00019
|
NM_000535.7(PMS2):c.2253T>C (p.Phe751=)
|
rs1805325
|
0.00018
|
NM_000501.4(ELN):c.232+3G>A
|
rs377172364
|
0.00015
|
NM_213599.3(ANO5):c.2256G>A (p.Thr752=)
|
rs144048656
|
0.00013
|
NM_000548.5(TSC2):c.4215C>T (p.Ala1405=)
|
rs45517331
|
0.00010
|
NM_015884.4(MBTPS2):c.459C>T (p.Pro153=)
|
rs371946947
|
0.00009
|
NM_024426.6(WT1):c.513C>A (p.Gly171=)
|
rs536728682
|
0.00004
|
NM_001354604.2(MITF):c.1569G>A (p.Glu523=)
|
rs200830148
|
0.00003
|
NM_000051.4(ATM):c.8730C>G (p.Leu2910=)
|
rs551041839
|
0.00001
|
NM_001377265.1(MAPT):c.220+2432G>A
|
rs992572864
|
0.00001
|
NM_001854.4(COL11A1):c.990+8G>A
|
rs756299328
|
0.00001
|
NM_000038.6(APC):c.3462AGA[2] (p.Glu1157del)
|
rs386833391
|
|
NM_000038.6(APC):c.423-4dup
|
rs730881230
|
|
NM_000051.4(ATM):c.1236-3del
|
rs34325032
|
|
NM_000051.4(ATM):c.1236-3dup
|
rs34325032
|
|
NM_000051.4(ATM):c.3285-9del
|
rs1799757
|
|
NM_000051.4(ATM):c.3403-13dup
|
rs3218681
|
|
NM_000051.4(ATM):c.497-4del
|
rs768748099
|
|
NM_000051.4(ATM):c.6347+31del
|
rs58978479
|
|
NM_000088.4(COL1A1):c.1300-8C>G
|
rs41317361
|
|
NM_000088.4(COL1A1):c.1300-8C>T
|
rs41317361
|
|
NM_000088.4(COL1A1):c.3046-20CT[10]
|
rs138425306
|
|
NM_000090.4(COL3A1):c.2002C>T (p.Pro668Ser)
|
rs1801183
|
|
NM_000093.5(COL5A1):c.67CTG[5] (p.Leu28del)
|
rs773994971
|
|
NM_000096.4(CP):c.2286-14dup
|
rs561633350
|
|
NM_000264.5(PTCH1):c.4080C>T (p.Ser1360=)
|
rs62637631
|
|
NM_000271.5(NPC1):c.1947+10G>C
|
rs71534236
|
|
NM_000271.5(NPC1):c.1947+8_1947+10dup
|
rs3837910
|
|
NM_000271.5(NPC1):c.1947+8_1947+11dup
|
rs3837910
|
|
NM_000271.5(NPC1):c.1947+8_1947+9dup
|
rs3837910
|
|
NM_000271.5(NPC1):c.1947+8dup
|
rs3837910
|
|
NM_000314.8(PTEN):c.802-3del
|
rs34003473
|
|
NM_000377.3(WAS):c.273+10_273+11dup
|
rs58371799
|
|
NM_000377.3(WAS):c.273+11dup
|
rs58371799
|
|
NM_000478.6(ALPL):c.472+12del
|
rs35423948
|
|
NM_000501.4(ELN):c.1264G>A (p.Gly422Ser)
|
rs2071307
|
|
NM_000501.4(ELN):c.1741G>C (p.Gly581Arg)
|
rs17855988
|
|
NM_000535.7(PMS2):c.1437C>G (p.His479Gln)
|
rs63750685
|
|
NM_000535.7(PMS2):c.1688G>T (p.Arg563Leu)
|
rs63750668
|
|
NM_000548.5(TSC2):c.3126G>C (p.Pro1042=)
|
rs36078782
|
|
NM_000548.5(TSC2):c.3126G>T (p.Pro1042=)
|
rs36078782
|
|
NM_000553.6(WRN):c.1899-10G>T
|
rs748285435
|
|
NM_000791.4(DHFR):c.-417_-416insGCGCTGCGGCCGCTGCGG
|
rs758718643
|
|
NM_000791.4(DHFR):c.-437GGGGCGCTG[3]
|
rs60484572
|
|
NM_001018115.3(FANCD2):c.3466+36dup
|
rs371321981
|
|
NM_001042432.2(CLN3):c.1210C>A (p.His404Asn)
|
rs146610181
|
|
NM_001042492.3(NF1):c.4174-8_4174-6del
|
rs751729752
|
|
NM_001042492.3(NF1):c.730+32del
|
rs71142032
|
|
NM_001127671.2(LIFR):c.143-37GT[15]
|
rs10637374
|
|
NM_001330111.2(NAA38):c.-167+119CGG[8]
|
rs759738955
|
|
NM_001379500.1(COL18A1):c.2829CCCAGGCCC[1] (p.938PGP[3])
|
rs78227997
|
|
NM_001844.5(COL2A1):c.2673C>G (p.Gly891=)
|
rs41272029
|
|
NM_001851.6(COL9A1):c.1342-27CTTTT[3]
|
rs543377381
|
|
NM_001852.4(COL9A2):c.1604-26CTCC[7]
|
rs3831927
|
|
NM_001853.4(COL9A3):c.1816G>A (p.Ala606Thr)
|
rs142792529
|
|
NM_001853.4(COL9A3):c.685-4G>T
|
rs57739618
|
|
NM_001854.4(COL11A1):c.4303-13dup
|
rs35232764
|
|
NM_001854.4(COL11A1):c.652-18_652-16dup
|
rs36076089
|
|
NM_001854.4(COL11A1):c.652-6del
|
rs36076089
|
|
NM_001999.4(FBN2):c.7650C>G (p.Thr2550=)
|
rs140978642
|
|
NM_002087.4(GRN):c.99C>T (p.Asp33=)
|
rs63750742
|
|
NM_002693.3(POLG):c.126GCA[12] (p.Gln55dup)
|
rs41550117
|
|
NM_002775.5(HTRA1):c.108G>C (p.Gly36=)
|
rs2293870
|
|
NM_003036.4(SKI):c.1311C>T (p.Ala437=)
|
rs140889128
|
|
NM_003238.6(TGFB2):c.510+12TTG[11]
|
rs10482769
|
|
NM_003238.6(TGFB2):c.510+12TTG[12]
|
rs10482769
|
|
NM_003738.5(PTCH2):c.1864C>A (p.His622Asn)
|
rs11573586
|
|
NM_003738.5(PTCH2):c.1864C>T (p.His622Tyr)
|
rs11573586
|
|
NM_003738.5(PTCH2):c.2427G>C (p.Ser809=)
|
rs111471526
|
|
NM_004168.4(SDHA):c.1909-12_1909-11del
|
rs372662724
|
|
NM_004168.4(SDHA):c.1974G>C (p.Pro658=)
|
rs1042446
|
|
NM_004260.4(RECQL4):c.212A>G (p.Glu71Gly)
|
rs34642881
|
|
NM_004370.6(COL12A1):c.7698-19_7698-15del
|
rs141102808
|
|
NM_004525.3(LRP2):c.428-9_428-8del
|
rs370823033
|
|
NM_004612.4(TGFBR1):c.52GCG[8] (p.Ala26del)
|
rs11466445
|
|
NM_004655.4(AXIN2):c.1235A>G (p.Asn412Ser)
|
rs115931022
|
|
NM_005591.4(MRE11):c.315-4del
|
rs35062043
|
|
NM_005732.4(RAD50):c.756+7del
|
rs377720482
|
|
NM_006231.4(POLE):c.2865-4del
|
rs369732588
|
|
NM_006231.4(POLE):c.2865-4dup
|
rs369732588
|
|
NM_006231.4(POLE):c.4952+17_4952+19dup
|
rs571641918
|
|
NM_013254.4(TBK1):c.541-9del
|
rs369498196
|
|
NM_014694.4(ADAMTSL2):c.310-9G>A
|
rs147342065
|
|
NM_014915.3(ANKRD26):c.1986-3dup
|
rs113123391
|
|
NM_015046.7(SETX):c.6843-16dup
|
rs34769225
|
|
NM_015294.6(TRIM37):c.398C>T (p.Ala133Val)
|
rs61758100
|
|
NM_015294.6(TRIM37):c.810-3del
|
rs367700401
|
|
NM_017617.5(NOTCH1):c.6454G>C (p.Gly2152Arg)
|
rs116317506
|
|
NM_017633.3(TENT5A):c.72CGGCGACTTCGGCGG[5] (p.26DFGGG[5])
|
rs754008809
|
|
NM_017763.6(RNF43):c.576G>A (p.Pro192=)
|
rs76384648
|
|
NM_018965.4(TREM2):c.287C>A (p.Thr96Lys)
|
rs2234253
|
|
NM_022356.4(P3H1):c.2148= (p.Gly716=)
|
rs4660662
|
|
NM_025137.4(SPG11):c.2445-32dup
|
rs374899647
|
|
NM_025137.4(SPG11):c.6477+13del
|
rs574960359
|
|
NM_025137.4(SPG11):c.6755-17_6755-15del
|
rs143026515
|
|
NM_030957.3(ADAMTS10):c.3043-12_3043-6dup
|
rs138501563
|
|
NM_053025.4(MYLK):c.3193GAA[1] (p.Glu1066del)
|
rs75967604
|
|
NM_080680.3(COL11A2):c.3111G>T (p.Pro1037=)
|
rs146093235
|
|
NM_144596.4(TTC8):c.1464G>C (p.Ala488=)
|
rs142073418
|
|
NM_198241.3(EIF4G1):c.1395AGGAGAAGC[2] (p.466GEA[2])
|
rs111659103
|
|
NM_213599.3(ANO5):c.966A>T (p.Leu322Phe)
|
rs7481951
|
|